Q86WG5
PR
Gene name |
SBF2 (CMT4B2, KIAA1766, MTMR13) |
Protein name |
Myotubularin-related protein 13 |
Names |
Inactive phosphatidylinositol 3-phosphatase 13, SET-binding factor 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81846 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q86WG5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86WG5-F1 | Predicted | AlphaFoldDB |
1470 variants for Q86WG5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1964355306 RCV001242313 |
3 | R>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696854 rs1270869520 |
7 | Y>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10637269 RCV000303420 rs886047576 |
8 | F>C | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1591380986 CA379851589 RCV000794381 |
13 | Y>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1964352895 RCV001204804 |
15 | H>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213271 CA5882231 rs375560902 |
19 | G>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001217509 CA5882230 rs774844294 |
21 | G>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5882228 RCV001343371 rs749815764 |
22 | E>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000805307 rs751336040 RCV000591760 RCV001172791 CA5882222 |
29 | Q>H | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000517503 CA217871347 RCV002527522 rs759977048 |
37 | D>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379850536 rs1194397200 RCV001238876 |
40 | P>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878855130 RCV000232329 RCV002379026 RCV000992806 CA10582776 |
46 | E>Q | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001262441 rs1166873755 CA379644041 |
54 | W>* | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5882191 RCV002406791 RCV000804498 RCV001173106 rs374114606 |
64 | T>A | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1949709115 RCV001212930 |
65 | F>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949709027 RCV001208023 |
65 | F>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612945 rs1060500000 RCV000476662 |
72 | D>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001865391 CA16606132 rs745669920 RCV000442025 |
86 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745669920 CA5882181 RCV002456257 RCV000552992 |
86 | Y>F | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1949706329 RCV001173121 |
89 | E>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301172 rs1206056257 |
91 | N>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139730490 RCV000707687 CA5882152 COSM685867 |
105 | K>E | lung Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1949238558 RCV001308173 |
116 | F>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5882145 RCV001325812 rs767514383 |
117 | A>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1949238001 RCV001319270 RCV002456431 |
118 | P>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1201147678 CA379646551 RCV000702926 |
130 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs200954150 RCV001108276 |
137 | L>V | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036460 rs1949191748 |
138 | G>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002331270 RCV000654139 rs146361949 CA5882123 |
139 | L>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5882118 RCV000517088 rs142469360 RCV000654079 |
143 | V>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001108275 rs1949190497 |
147 | S>N | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1337725457 CA379646320 RCV000812661 |
149 | N>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000519383 RCV001052163 rs1214507322 CA379646180 RCV001108274 |
160 | C>F | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1949186665 RCV001294548 |
169 | G>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554990128 RCV000654194 CA379646071 |
176 | L>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10636714 rs886047534 RCV000654070 RCV001094057 |
182 | Q>H | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5882078 RCV001240398 RCV002348818 rs764000654 |
189 | H>R | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379645990 RCV001043697 rs1280211892 |
189 | H>Y | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000701383 rs201738577 CA5882077 |
190 | D>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001232889 CA5882075 rs746246566 |
194 | I>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000702079 CA5882073 rs150725040 |
196 | G>S | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002948236 CA217677691 rs141133392 |
204 | Q>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001042813 rs1949128392 |
205 | Q>P | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA334295 rs749378136 RCV000168118 |
234 | L>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001173117 rs1441387053 RCV002365773 CA379643508 RCV001068803 |
235 | S>G | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554981022 RCV000654094 CA379643359 |
245 | M>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565115957 RCV000707144 |
252 | Y>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1947932613 RCV001036367 |
254 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000823130 CA379642079 rs1259744769 |
255 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001854858 CA10584311 rs879253987 RCV000236732 |
256 | P>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5882011 rs756866661 RCV000654053 |
257 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5882008 RCV000690665 rs759932929 |
261 | Q>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1655963955 RCV001229385 |
265 | V>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379641762 RCV000696118 rs1565116051 |
266 | L>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA379641615 rs1194829190 RCV001173118 |
270 | T>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5881999 rs746749228 RCV000654168 |
278 | S>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771827174 CA5881977 RCV000820898 |
290 | V>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002372190 CA339233 RCV000200317 rs141669540 |
300 | I>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881973 RCV001320931 rs781039677 |
304 | E>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758820956 CA5881970 RCV001316193 RCV001173125 |
305 | C>R | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000654161 CA379639806 rs1300253311 |
309 | S>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001307655 rs1947799030 |
312 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379638335 rs1360970766 RCV001172802 |
339 | P>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1972713 RCV000779038 CA379638294 rs1565106242 |
342 | R>* | pancreas Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 4B2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM428259 rs954771068 CA217650705 RCV001309998 |
342 | R>Q | Charcot-Marie-Tooth disease type 4 Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA5881933 rs746685729 RCV000477433 RCV001173122 |
349 | K>E | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001217773 rs1947549366 |
350 | M>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5881917 rs761829741 RCV000462178 |
354 | E>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379638005 RCV000790191 RCV002535814 rs1032796987 |
356 | R>* | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1264894 RCV001173112 RCV001755912 RCV000546962 CA5881915 rs188588431 |
356 | R>Q | Charcot-Marie-Tooth disease type 4 oesophagus Charcot-Marie-Tooth disease [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002418848 rs1372841015 RCV001246951 CA379637983 |
358 | V>I | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002437066 rs1947510624 RCV001311738 |
368 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001173113 RCV002438225 rs770153492 CA5881909 RCV001061176 RCV000501203 |
375 | Q>R | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881907 RCV000556967 rs371432409 RCV002325097 |
377 | I>R | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881908 rs371432409 RCV000812210 RCV002325587 |
377 | I>T | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001069617 rs780071398 |
386 | H>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379636999 rs1590699984 RCV000796284 |
395 | Q>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243986 CA5881881 rs764058215 RCV002357040 |
404 | L>F | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001206621 CA379636906 rs760704483 |
406 | K>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001315128 rs1220835376 CA379636892 |
408 | L>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1220835376 CA379636894 RCV000686836 |
408 | L>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000699657 rs1183650459 CA379636885 |
409 | S>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001045409 rs1947481086 |
414 | A>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172805 CA217649613 RCV002393383 rs996602317 |
415 | G>V | Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5881877 RCV002546976 rs759009170 RCV001342997 |
426 | S>Y | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881860 RCV001349984 rs754505342 |
439 | E>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000217206 CA5881858 RCV002381756 rs765958389 RCV000545532 |
443 | V>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA379636392 RCV000695785 rs1565100821 |
445 | E>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5881857 RCV000689883 rs762615474 |
446 | N>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1441833591 RCV001202483 CA379636337 |
449 | V>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001114566 rs149967939 CA5881829 RCV001069787 |
470 | P>T | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001114565 RCV001214765 RCV002393360 CA5881824 rs769911496 CA5881825 |
471 | H>Q | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379630659 rs1590636623 RCV000806136 |
472 | M>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206478 CA350504 RCV000413369 COSM545867 RCV001172793 RCV002390547 RCV001094223 rs199894823 |
475 | Q>R | lung Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001508305 COSM1675839 RCV001218971 CA5881822 RCV002393523 rs775059182 |
479 | R>Q | Charcot-Marie-Tooth disease type 4 large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001055475 CA115868 rs120074139 RCV000003046 RCV000790190 |
487 | R>* | Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1358089 RCV000794158 CA5881812 rs759084094 |
500 | R>Q | Charcot-Marie-Tooth disease type 4 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146366305 RCV001551398 RCV001349729 RCV002486438 CA5881813 |
500 | R>W | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881810 RCV000654076 RCV001172806 RCV002392844 rs139217120 RCV001094221 |
507 | E>K | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000790186 rs1480710758 CA379629823 |
513 | Q>* | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001318358 rs1474146157 CA379629681 |
518 | A>D | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs546485749 RCV000805018 CA5881808 RCV001172795 |
520 | R>Q | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs770392081 RCV001173110 CA217630008 |
521 | I>M | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA379629537 RCV001325741 rs1207040016 |
524 | K>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001172799 rs746860317 CA379629524 RCV000654171 |
525 | C>R | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1867103004 RCV001059055 |
527 | V>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314644 rs745328047 CA5881801 |
528 | P>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA217667788 rs1001858508 RCV000654147 |
532 | P>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1590635892 RCV000795245 CA379645107 |
534 | V>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217664147 rs542028180 RCV001228321 |
535 | S>L | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA379645075 RCV000654169 rs1278738726 |
537 | M>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002402753 RCV001238835 CA5881782 rs775279773 |
539 | K>E | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881781 rs201806063 RCV002397319 RCV000992807 RCV000654093 |
540 | V>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA217664067 rs372109447 RCV002400232 RCV001288383 RCV001038849 |
541 | T>M | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002558749 RCV001173123 CA5881776 rs777289065 |
544 | F>L | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1161860280 RCV001318495 CA379644965 |
554 | R>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA379644465 rs1565064376 RCV000685823 |
590 | D>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000331868 CA5881745 RCV002402020 RCV001094194 rs185968327 |
600 | R>Q | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001207313 rs964428805 |
611 | I>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1043801815 COSM1605426 RCV001205516 CA217662290 |
616 | N>S | liver Charcot-Marie-Tooth disease type 4 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs779355592 CA5881734 RCV001035143 |
618 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001331424 CA379646343 rs1386270581 RCV000654111 |
632 | A>T | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001246950 rs775198025 COSM1188169 CA5881695 RCV001113196 |
633 | A>T | lung Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002543203 RCV001307580 rs544091616 CA5881693 |
636 | P>H | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1857475272 RCV001344198 |
644 | K>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696789 rs1564923441 CA379642484 |
651 | Q>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5881672 RCV001304621 rs777190196 |
655 | T>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000526990 RCV000763789 RCV000493165 rs138120231 CA5881669 RCV002420258 RCV000766678 RCV001173111 |
656 | C>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770839510 RCV000687162 CA5881665 |
672 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881663 RCV000816228 RCV002534891 rs375407366 |
675 | N>S | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs7102464 RCV001172811 VAR_051767 RCV000518179 RCV001094192 CA5881660 RCV001707639 RCV000371313 |
679 | E>K | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002422420 RCV000654043 RCV001816648 rs146987383 RCV002261161 CA5881658 |
684 | L>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1269738427 RCV001751617 CA379641129 RCV001321311 |
693 | H>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5881652 RCV000704908 RCV002422597 rs141368249 |
694 | A>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA379639547 RCV002415918 rs1590235062 RCV000817265 |
701 | D>G | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746473762 CA5881623 RCV001043311 |
701 | D>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA379639415 RCV001054409 rs1388585918 |
705 | D>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001213555 CA5881621 rs368259453 |
708 | Y>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223464 rs1857337701 |
717 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325989 RCV002546152 CA217621540 rs149162783 |
719 | E>K | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000994571 rs753111342 RCV002416275 CA5881617 RCV001221407 |
722 | R>C | Charcot-Marie-Tooth disease type 4 Variant assessed as Somatic; 4.62e-05 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs751653396 CA5881613 RCV001057857 |
728 | S>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881611 RCV000658587 RCV001352894 RCV001002506 RCV002429258 rs145199888 RCV000547373 |
733 | Q>E | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000654117 CA5881603 rs775455068 RCV002442359 |
752 | N>D | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1857329536 RCV001057367 |
753 | L>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690901 CA379638906 rs745452169 |
754 | M>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001220893 rs929805760 CA217621492 |
762 | D>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5881592 rs750527598 RCV001069982 |
773 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000206768 RCV001094125 RCV001173128 CA201480 RCV001293356 RCV000438792 RCV000175483 rs141330687 RCV002444702 |
775 | G>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA379638766 RCV000705798 rs1321841784 |
777 | W>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs775404093 CA5881587 RCV000525781 |
780 | G>R | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs758912920 RCV000694612 CA5881585 RCV001821408 RCV000489663 |
784 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1857121933 RCV001053925 |
794 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217774 rs1857121600 |
796 | S>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704109 RCV001111190 RCV002458302 CA5881564 rs146868794 |
808 | N>K | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000654089 rs764765082 RCV002458154 CA217620769 |
811 | I>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs982821887 CA217620766 RCV001857160 RCV000499799 |
816 | V>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5881559 rs369653070 RCV000542630 |
817 | R>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881560 RCV001338856 rs747325449 |
817 | R>W | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000702480 RCV001111189 rs746363004 CA5881557 RCV002458288 |
819 | I>M | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000341036 rs753921188 RCV002450854 RCV000518844 CA5881554 RCV001094123 |
825 | K>R | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000516626 RCV001224044 rs770201190 CA5881551 |
831 | G>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500002 RCV000466264 CA16613480 |
839 | S>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs751319241 CA5881529 RCV001039269 |
849 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1675837 rs1210393129 RCV001238907 CA379637091 |
860 | R>Q | Charcot-Marie-Tooth disease type 4 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs371380984 CA217620514 RCV001308747 |
865 | L>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000823202 CA5881523 RCV000236513 rs143887793 |
866 | P>L | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001335162 RCV001052529 rs1228676321 CA379637041 |
866 | P>T | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs370198639 RCV000342055 CA5881521 |
867 | P>L | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
rs1857042661 RCV001300429 |
867 | P>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312573 rs1856823248 |
871 | P>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310023 rs1856820562 |
885 | V>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777117399 RCV001313674 |
888 | G>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046934 CA379635704 COSM933707 rs1413469900 |
890 | R>* | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001344489 RCV000372252 CA5881478 rs755699993 |
890 | R>Q | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881477 rs552340604 RCV001206676 |
894 | D>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554924568 RCV000526547 CA379635607 |
897 | G>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1856816602 RCV001313418 |
904 | G>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002563101 CA5881469 RCV001226819 rs760903950 |
906 | L>I | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001214309 rs1856815904 RCV002429911 |
908 | G>S | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440528 rs755578344 RCV000704182 CA5881461 |
930 | T>I | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379635376 rs1554924467 RCV000541435 |
932 | H>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5881434 rs756720332 RCV000654192 RCV003163013 |
940 | T>I | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881433 RCV000654141 RCV002440377 rs753298285 |
943 | R>Q | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001070279 rs1324654662 |
943 | R>W | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001110446 RCV001246297 rs1856598871 |
955 | K>E | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10631803 RCV000281138 rs886048782 |
957 | T>K | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217618881 RCV000556006 rs901770002 |
958 | M>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000003044 rs120074137 CA115862 |
959 | Q>* | Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813420 rs768147206 CA5881423 RCV000517390 |
961 | Q>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747309148 CA5881421 RCV001302608 |
964 | Q>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1008248276 RCV001205665 RCV001285656 CA217618869 |
965 | N>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs148625171 CA5881405 RCV000701595 RCV002440513 |
980 | I>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881399 RCV000654122 rs778766567 |
988 | V>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1856494115 RCV001110445 |
1001 | M>I | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781742897 RCV002436153 RCV000387199 RCV001094098 CA5881396 |
1001 | M>L | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001094218 RCV000654142 RCV002436152 CA5881395 RCV002261042 rs572884226 |
1002 | K>N | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000802238 rs1157037356 CA379632977 |
1004 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000276115 rs886048781 RCV001205904 CA10631802 |
1006 | P>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1404127728 CA379632751 RCV000696312 |
1014 | A>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs201964421 RCV002448559 RCV000516551 RCV001474077 CA5881388 |
1019 | Q>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000235610 CA5881387 RCV002519833 rs763977351 |
1023 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379632362 rs929108873 RCV001226058 |
1028 | K>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA379632335 RCV000702334 rs1297679145 |
1029 | Q>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001048304 rs1856485648 |
1033 | N>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1856484914 RCV001038229 |
1035 | S>Y | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873608 COSM933702 RCV001173115 CA5881381 rs770723203 RCV002473211 |
1037 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA334292 RCV000168117 rs748477865 |
1037 | R>P | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001071681 rs1856252791 |
1042 | T>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204547 CA348773 RCV002321815 RCV001172809 rs147438385 RCV000767058 |
1043 | I>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881356 rs142891020 RCV001114471 RCV000544537 RCV000757736 |
1055 | I>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138612196 RCV000460400 CA5881353 |
1057 | R>Q | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002325317 CA5881354 rs536949808 RCV000654191 |
1057 | R>W | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs765970008 RCV000700853 CA217617946 |
1068 | I>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750021823 CA5881344 RCV002543230 RCV001308316 COSM180447 |
1075 | R>C | Charcot-Marie-Tooth disease type 4 large_intestine breast Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775746690 CA5881341 RCV001065002 |
1077 | G>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881342 RCV000812123 rs761048786 |
1077 | G>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001315167 rs1331366931 CA379630799 |
1084 | V>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001351145 rs762973514 RCV000992809 CA5881318 |
1093 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001296014 rs762973514 CA379629091 |
1093 | P>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5881315 RCV000228191 rs2942402 RCV001589197 |
1095 | S>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001085919 RCV001114470 CA5881312 RCV001564019 RCV001172800 RCV000416078 rs141894081 RCV002321906 |
1097 | T>N | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA293144 RCV000127864 rs117957652 RCV000625197 RCV000206760 RCV001172817 |
1098 | L>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065669 rs1855971560 |
1100 | A>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543051 rs778262784 CA5881307 |
1102 | E>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001203989 CA379628907 rs1217278816 |
1105 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001173116 RCV001350742 rs753427715 CA5881305 |
1106 | M>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1206899890 CA379628679 RCV000814500 |
1118 | Y>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000798021 CA5881300 RCV002473034 rs747669195 |
1126 | I>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001214877 CA217617348 RCV002451470 rs747669195 |
1126 | I>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001172796 rs1855965122 |
1128 | G>D | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001173109 rs187674701 CA5881295 |
1129 | S>T | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000732933 rs370742916 CA5881288 RCV002332529 RCV001868980 |
1137 | Y>C | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001591170 RCV001001099 rs145647154 RCV000517591 RCV000557884 RCV002455995 CA5881286 |
1145 | R>G | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881285 RCV000654077 rs377277274 RCV002458153 |
1146 | M>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5881284 rs766709811 RCV001338111 |
1149 | L>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs140550985 RCV000236691 CA5881283 COSM933698 RCV002450734 RCV000705501 |
1151 | R>W | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 endometrium Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1060499998 RCV000469287 CA16613721 |
1153 | Y>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698854 rs1433995523 CA379645909 |
1156 | L>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000793422 CA379645846 rs1233967178 |
1160 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM933696 rs779290368 RCV001231419 CA5881245 |
1173 | R>C | Charcot-Marie-Tooth disease type 4 endometrium Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5881244 RCV002451352 RCV001173120 rs757577170 RCV001873609 |
1173 | R>H | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774667470 CA5881240 RCV000704934 COSM170133 |
1176 | R>* | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5881239 rs185264589 RCV001325545 |
1176 | R>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001326179 CA5881237 rs751750978 |
1179 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001803748 RCV000424451 CA5881232 RCV000820276 rs761285334 RCV002451056 |
1192 | T>A | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs120074138 RCV001045497 CA115865 RCV000003045 |
1196 | R>* | Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA217634145 rs376309876 RCV000696220 |
1196 | R>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
CA5881226 rs749729139 RCV001216481 |
1200 | F>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs869312970 RCV001853377 CA358258 RCV000210731 |
1201 | H>R | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5881219 rs766573319 RCV000654134 |
1206 | V>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1855445153 RCV001235158 |
1215 | P>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001094188 CA293147 rs12574508 RCV000364874 VAR_051768 RCV001172813 RCV000127865 |
1216 | Q>E | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763594624 CA5881214 RCV001340108 |
1218 | A>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002454284 rs753811515 RCV001039838 CA5881195 |
1220 | T>A | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760210827 RCV001173114 RCV001346604 CA5881193 |
1223 | L>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs759215256 CA5881191 RCV001220124 |
1225 | S>Y | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA5881189 RCV001062927 rs368618956 |
1227 | S>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1261598853 RCV001201644 |
1227 | S>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1443759629 RCV002451417 RCV001202768 CA379645374 |
1229 | I>T | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000700570 CA379645314 rs1564890006 |
1238 | L>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753626252 RCV001344134 CA5881178 RCV002350631 RCV003151856 |
1245 | H>Y | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1855252886 RCV001240370 |
1247 | K>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379645245 RCV000546390 rs1554914278 |
1249 | R>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139967004 RCV000303226 CA5881173 RCV001820788 RCV001094187 RCV000235333 RCV002365232 |
1252 | S>C | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5881172 RCV001349533 rs368392902 |
1253 | T>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs762211340 CA5881170 RCV001094186 RCV002348042 RCV000264501 |
1254 | L>P | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5881132 RCV001113091 rs765001700 RCV001047119 |
1271 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5881129 rs201249004 RCV001756206 RCV000695660 |
1271 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs760386811 RCV001315623 CA5881128 |
1272 | S>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001201488 RCV002365900 CA5881127 rs774935915 |
1273 | S>N | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379644773 rs956737183 RCV000792115 |
1275 | R>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs150028248 RCV001818491 RCV000215903 RCV001094184 RCV002363019 RCV000196586 RCV001172794 CA336538 |
1275 | R>H | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000467056 RCV002356322 RCV000237027 RCV000713000 RCV001094183 CA5881126 rs139522696 |
1277 | I>M | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000210630 rs869312963 CA358114 |
1286 | V>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227298 RCV000658584 RCV002360681 rs757836523 CA5881119 RCV001173108 RCV002227940 |
1289 | R>Q | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001036094 CA5881120 rs145107442 RCV000416178 |
1289 | R>W | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000819811 rs1488414945 CA379644655 |
1291 | A>P | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002367960 rs200594508 CA5881115 COSM1188168 RCV000556387 |
1293 | K>E | lung Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001172792 CA5881113 rs767811228 RCV000691838 RCV001535665 |
1296 | S>L | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001065688 rs1429630644 CA379644520 |
1301 | N>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000699562 CA5881106 RCV001509402 rs200167746 |
1311 | K>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs768571931 RCV001205817 RCV002369986 COSM3723477 CA5881104 RCV000714869 |
1312 | R>Q | upper_aerodigestive_tract Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379644347 RCV000551737 rs1554909178 |
1313 | Q>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217624449 COSM933692 RCV001204525 rs369288449 |
1323 | S>L | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002374737 rs147350002 RCV000476682 RCV001764364 CA5881079 |
1330 | V>A | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000700294 rs752638300 RCV002284431 CA5881075 |
1346 | I>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202214 RCV002356871 rs750938785 CA5881074 |
1347 | R>W | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA205688 rs368839717 RCV001857701 RCV000192691 |
1359 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000557470 rs115927577 CA5881066 RCV001173804 RCV001094117 RCV001706459 RCV001660606 |
1366 | P>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000688980 CA5881064 rs144063037 |
1368 | D>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149501654 RCV000863552 RCV001759647 RCV002319963 RCV001173814 CA5881061 |
1371 | V>L | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753564262 CA5881060 RCV002322284 RCV001342794 |
1373 | F>Y | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1854248122 RCV001210910 |
1374 | L>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535636 CA5881058 rs746286799 |
1374 | L>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001352283 COSM933690 CA217622230 RCV002284483 rs922840746 |
1376 | A>V | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001240368 rs1854247198 |
1378 | G>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067760 rs1854246275 |
1382 | W>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000236772 CA5881033 rs771436343 RCV000795726 |
1386 | L>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343511 rs142029000 CA5881028 |
1394 | V>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA379642311 rs751799091 RCV001229954 |
1396 | V>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA5881022 RCV001304583 rs750353766 |
1401 | E>D | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA379642207 RCV000797864 rs1590132478 |
1402 | N>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001247746 RCV002473241 rs370601742 CA5881018 |
1416 | I>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1853958713 RCV001206144 |
1428 | S>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790187 rs1590131053 CA379640236 |
1433 | R>S | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1853955279 RCV001196478 |
1444 | K>missing | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1853955123 RCV001172807 |
1444 | K>N | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001173124 rs1853954509 |
1452 | K>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036723 CA379639706 rs1343934459 |
1458 | S>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001173119 rs1853953374 RCV002327420 |
1462 | N>Y | Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5880990 RCV001662415 RCV000462473 RCV002224966 rs762165359 |
1465 | G>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000802756 rs1590130857 CA379639294 |
1474 | Q>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001173105 RCV000821993 RCV001803993 rs1590103742 CA379636669 |
1487 | P>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622502 RCV000204341 CA348591 |
1489 | E>K | Charcot-Marie-Tooth disease type 4 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001345698 rs1853093188 |
1504 | Y>D | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5880963 RCV002328806 RCV001094116 RCV000528673 rs141108330 RCV000713001 RCV001172803 |
1508 | R>C | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141108330 RCV001228345 |
1508 | R>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654172 RCV001288386 COSM1675834 CA5880962 rs770619905 |
1508 | R>H | Charcot-Marie-Tooth disease type 4 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148988271 RCV002341156 RCV000489426 RCV001111097 CA5880957 RCV001321657 |
1521 | L>F | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1853090043 RCV001205868 |
1522 | E>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5880936 rs746575779 RCV001226207 |
1530 | K>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs546392558 RCV000654041 CA379635260 |
1535 | A>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA5880930 rs200338241 RCV000994570 RCV002549876 |
1547 | R>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338848 rs1852677610 |
1555 | F>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs189911105 CA5880928 RCV000757738 RCV000701432 |
1556 | F>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001720115 CA5880922 RCV001821171 RCV002339009 rs115345208 RCV000549069 |
1565 | I>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060679 rs371960255 |
1571 | N>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001094095 RCV000292502 CA5880905 RCV001172798 rs371960255 RCV002338884 |
1571 | N>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5880900 RCV002338883 rs775360425 RCV001222975 RCV000389514 RCV000504119 |
1578 | K>R | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379634217 rs1384571991 RCV000790188 |
1594 | Y>* | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000542058 RCV001821650 rs183468503 RCV001288387 RCV002330974 CA5880890 |
1600 | T>I | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16043837 RCV001216272 RCV000415900 rs183468503 |
1600 | T>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002473104 RCV001173107 rs147772705 RCV000686234 RCV002334254 CA5880888 RCV001331426 |
1602 | K>R | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110355 rs1852579303 |
1609 | S>A | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1852578314 RCV001246298 |
1614 | E>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770439158 CA5880879 RCV000813486 |
1618 | R>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001322420 CA5880880 rs200696363 |
1618 | R>W | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000530549 CA217608471 rs963997810 |
1630 | D>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5880873 RCV001306797 rs758932167 |
1638 | A>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000351330 rs754078134 CA5880869 |
1644 | S>N | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002334277 rs927212697 CA217607532 RCV000689920 |
1654 | N>H | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001242475 rs139634638 |
1656 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805369 CA5880852 rs771021009 |
1657 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1337750415 CA379632903 RCV001172801 |
1661 | Q>E | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001229228 RCV002339627 rs757185849 COSM248898 CA5880843 |
1669 | V>M | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 pancreas Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142672124 RCV001040879 CA5880841 RCV001051252 RCV002339201 |
1670 | D>E | Inborn genetic diseases Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000498336 rs750958357 RCV000449588 RCV000513369 RCV000540860 RCV000626094 RCV002339104 |
1672 | K>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Peripheral neuropathy Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654101 CA5880840 rs764823510 RCV002343381 |
1673 | E>K | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000236239 RCV001818492 rs572571832 RCV002336544 RCV000198474 RCV001172790 RCV001000984 |
1674 | E>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1852460091 RCV001352609 |
1675 | P>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654157 RCV001114390 RCV002345372 COSM109603 CA5880831 rs79401259 |
1679 | R>C | Charcot-Marie-Tooth disease type 4 skin Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs769919130 CA5880830 RCV000797863 |
1679 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000779085 CA379631830 rs1343702415 |
1681 | Q>* | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001331427 RCV002350086 rs148468522 RCV000490082 RCV000686233 CA5880799 |
1685 | S>W | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000206356 RCV002227459 RCV000268529 rs146230559 RCV002336565 RCV001173798 RCV001000985 CA350400 |
1686 | R>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002339214 RCV001042777 CA5880790 rs776642521 |
1692 | S>P | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs935208245 RCV001052324 |
1693 | T>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs914679014 CA217606073 RCV000689438 |
1701 | R>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs757214892 RCV001114388 CA5880783 |
1712 | G>E | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs757214892 RCV000797166 CA379631637 |
1712 | G>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750756174 CA379631543 RCV001114387 |
1727 | R>G | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001331428 rs1334739235 CA379631506 |
1733 | Y>C | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1411871638 CA379631502 RCV000799856 |
1734 | S>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1590076969 RCV000988487 CA379631494 |
1735 | Q>* | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582957 RCV000229772 rs878855131 |
1735 | Q>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703459 CA379631479 rs1564850356 |
1737 | T>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1288312315 CA379631374 RCV000654186 |
1749 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1852233208 RCV001237976 |
1750 | L>P | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001381198 rs1064793771 RCV000479283 |
1752 | K>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1852232500 RCV001063617 |
1753 | R>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA217605525 RCV001207563 rs1051248230 |
1762 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5880746 rs770839463 RCV001346985 |
1763 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10639793 RCV000321033 rs886048779 |
1766 | V>I | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217603701 RCV002473178 rs938347502 COSM933684 RCV001046672 |
1775 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000823175 rs574665066 CA5880725 RCV002345908 |
1775 | R>H | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs746542104 RCV001331429 CA5880717 RCV001288713 RCV000823876 |
1789 | I>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379630388 RCV000687355 rs1554897834 |
1792 | A>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554897834 RCV000555438 CA379630393 |
1792 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5880714 RCV001068485 rs745534248 |
1800 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000529105 CA5880712 RCV001172797 rs755264093 |
1804 | M>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001342793 rs1852006389 |
1812 | D>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1590068012 CA379630019 RCV000802341 |
1813 | K>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214766 rs1852006110 RCV002348711 |
1813 | K>T | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1852005955 RCV001340670 |
1814 | A>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369992460 RCV001071984 CA5880693 |
1823 | R>H | Charcot-Marie-Tooth disease type 4 Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001338258 rs1851934295 |
1824 | V>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692477 CA5880689 RCV002343464 rs146064484 RCV001172808 |
1828 | C>Y | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822945 CA5880683 rs763965438 |
1833 | Q>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000268409 rs886048778 CA10631790 |
1835 | A>T | Charcot-Marie-Tooth disease type 4B2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001342103 rs1293444505 |
1844 | S>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1591381054 CA379851664 |
2 | A>T | No |
ClinGen Ensembl |
|
|
CA379851658 rs1412687292 |
3 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1412687292 CA379851657 |
3 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA217926890 rs894232231 |
9 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379851600 rs1168053222 |
12 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1324706227 CA379851578 |
15 | H>N | No |
ClinGen TOPMed |
|
|
CA379851573 rs1160112588 |
15 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1461028222 CA379851568 |
16 | E>K | No |
ClinGen gnomAD |
|
|
rs867598712 COSM98356 CA217871421 |
20 | S>L | upper_aerodigestive_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs771273917 CA217871414 |
21 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771273917 CA5882229 |
21 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571646224 CA217871404 |
23 | G>C | No |
ClinGen Ensembl |
|
|
rs769963773 CA5882226 |
23 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs769963773 CA5882227 |
23 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458850617 CA379850641 |
25 | G>A | No |
ClinGen TOPMed |
|
|
rs1238261264 CA379850640 |
26 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA379850627 rs1327411651 |
27 | I>R | No |
ClinGen gnomAD |
|
|
rs1166572344 CA379850631 |
27 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393327716 CA379850618 |
29 | Q>K | No |
ClinGen gnomAD |
|
|
CA5882221 rs779915208 |
30 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379850588 rs1245547252 |
33 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 36 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759977048 CA5882219 |
37 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882218 rs765123817 |
43 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379850508 rs1307447017 |
44 | G>E | No |
ClinGen TOPMed |
|
|
rs1313831161 CA379850510 |
44 | G>R | No |
ClinGen TOPMed |
|
|
CA5882216 rs753402388 |
45 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1034500384 CA217636375 |
48 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1186619267 CA379644056 |
51 | P>L | No |
ClinGen gnomAD |
|
|
rs900191960 COSM1193311 CA217636335 |
53 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs758178246 CA5882199 |
54 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA217636327 rs866474840 |
55 | Q>* | No |
ClinGen Ensembl |
|
|
CA5882197 rs763055486 |
59 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217636319 rs763055486 |
59 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549233218 CA5882195 |
61 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763605354 CA5882194 |
62 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882192 rs752424529 |
62 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs779498056 CA5882193 |
62 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA217636296 rs779498056 |
62 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1357785855 CA379643985 |
63 | P>S | No |
ClinGen gnomAD |
|
|
CA379643958 rs1391569597 |
67 | V>L | No |
ClinGen TOPMed |
|
|
rs765774382 CA5882188 |
69 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000994576 CA379643937 rs1590822270 |
71 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5882186 rs776806762 |
73 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5882185 rs768892954 |
74 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs890667586 CA217636254 |
77 | R>* | No |
ClinGen Ensembl |
|
|
CA5882184 rs747102118 |
77 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs867527437 CA217636236 |
78 | H>Y | No |
ClinGen gnomAD |
|
|
rs202146994 CA217636234 |
80 | C>F | No |
ClinGen gnomAD |
|
|
CA379643877 rs202146994 |
80 | C>Y | No |
ClinGen gnomAD |
|
|
CA5882182 rs772236677 |
83 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs772236677 CA379643859 |
83 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA379643851 rs1235529052 |
84 | T>S | No |
ClinGen TOPMed |
|
|
rs1294354773 CA379643840 |
86 | Y>N | No |
ClinGen TOPMed |
|
|
CA379643814 rs1565165888 |
89 | E>D | No |
ClinGen Ensembl |
|
|
rs1206056257 CA379643802 |
91 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379646762 rs1455171724 |
98 | E>K | No |
ClinGen gnomAD |
|
|
rs374069325 CA5882153 |
100 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379646740 rs1382817159 |
101 | E>K | No |
ClinGen TOPMed |
|
|
RCV000235624 rs879253916 CA10584312 |
102 | G>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379646729 rs1208884081 |
102 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379646728 rs1262936102 |
103 | E>K | No |
ClinGen gnomAD |
|
|
rs779896443 CA5882151 |
106 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754308146 CA5882149 |
107 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345928305 CA379646675 |
111 | Q>* | No |
ClinGen TOPMed |
|
|
CA5882147 rs375094335 |
113 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227659714 CA379646663 |
113 | A>T | No |
ClinGen TOPMed |
|
|
rs375094335 CA5882148 |
113 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379646653 rs1352804912 |
114 | E>D | No |
ClinGen TOPMed |
|
|
rs201036502 CA5882146 |
117 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA217678972 rs201036502 |
117 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 117 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5882143 rs774524686 |
119 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA379646612 rs1359867664 |
121 | L>V | No |
ClinGen gnomAD |
|
|
CA5882142 rs370001738 |
122 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379646594 rs1377699749 |
124 | V>L | No |
ClinGen gnomAD |
|
|
rs1167955689 CA379646583 |
126 | R>G | No |
ClinGen gnomAD |
|
|
rs769715310 CA5882139 |
127 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA5882140 rs769715310 |
127 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1187508310 CA379646560 |
129 | Y>C | No |
ClinGen gnomAD |
|
|
CA379646554 rs1488184850 |
130 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5882138 rs748060451 |
131 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1213663198 CA379646539 |
132 | I>T | No |
ClinGen gnomAD |
|
|
CA379646506 rs1590794853 |
135 | A>S | No |
ClinGen Ensembl |
|
|
rs1290549092 CA379646505 |
135 | A>V | No |
ClinGen TOPMed |
|
|
rs1489750344 CA379646496 |
136 | C>* | No |
ClinGen TOPMed |
|
|
rs1341030881 CA379646497 |
136 | C>F | No |
ClinGen gnomAD |
|
|
rs375275099 CA217678411 |
138 | G>S | No |
ClinGen Ensembl |
|
|
CA5882122 rs146361949 |
139 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761711012 CA5882120 |
140 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1167617697 CA379646444 |
141 | Y>C | No |
ClinGen gnomAD |
|
|
rs1473313008 CA379646437 |
142 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5882117 rs746509560 |
144 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000499985 rs1554990623 CA379646273 |
152 | L>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1008878767 CA217678393 |
153 | E>G | No |
ClinGen Ensembl |
|
|
rs1326811159 CA379646250 |
154 | S>G | No |
ClinGen TOPMed |
|
|
rs1057524731 CA16606759 RCV000418785 |
155 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA217678385 rs998474277 |
156 | I>T | No |
ClinGen TOPMed |
|
|
CA5882115 rs771789786 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745535685 CA5882114 |
158 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1214507322 CA379646182 |
160 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA379646175 rs1266350530 |
161 | A>S | No |
ClinGen TOPMed |
|
|
CA5882112 rs756400876 |
165 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs137913031 CA217678347 |
166 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA217678345 rs890452319 |
168 | G>E | No |
ClinGen Ensembl |
|
|
rs1337461250 CA379646134 |
168 | G>R | No |
ClinGen gnomAD |
|
|
CA5882109 rs755481174 |
170 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1397728099 CA379646116 |
171 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA379646115 rs1397728099 |
171 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1191839169 CA379646096 |
172 | K>R | No |
ClinGen gnomAD |
|
|
rs200004527 CA5882083 |
174 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750578629 CA5882082 |
177 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1196534277 CA379646058 |
178 | A>G | No |
ClinGen gnomAD |
|
|
rs779002789 CA5882081 |
180 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1263571336 CA379646039 |
181 | R>I | No |
ClinGen gnomAD |
|
|
RCV000518097 CA379646027 rs1554990103 |
183 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379646009 rs1254270693 |
185 | Q>H | No |
ClinGen TOPMed |
|
|
CA217677738 rs558235332 |
187 | P>A | No |
ClinGen Ensembl |
|
|
rs757501461 CA5882080 |
187 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201738577 CA217677715 |
190 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752648471 CA5882076 |
191 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA379645960 rs1565150360 |
193 | P>S | No |
ClinGen Ensembl |
|
|
CA379645925 rs150725040 |
196 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399606984 CA379645889 |
199 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 201 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 204 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478238562 CA379645789 |
206 | L>F | No |
ClinGen gnomAD |
|
|
CA5882049 rs762408471 |
207 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1424080050 CA379645783 |
207 | G>R | No |
ClinGen gnomAD |
|
|
rs1256996587 CA379643759 |
209 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5882047 rs769490580 |
212 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1565118546 CA379643728 |
213 | S>R | No |
ClinGen Ensembl |
|
|
CA5882045 rs775833259 |
216 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs746412286 CA5882043 |
218 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1311636539 CA379643691 |
219 | L>P | No |
ClinGen gnomAD |
|
|
rs1447565741 CA379643688 |
220 | T>A | No |
ClinGen gnomAD |
|
|
rs1399584967 CA379643669 |
222 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209039793 CA379643659 |
224 | V>I | No |
ClinGen TOPMed |
|
|
CA379643651 rs1272152765 |
225 | L>F | No |
ClinGen TOPMed |
|
|
rs1463153576 CA379643628 |
226 | F>L | No |
ClinGen gnomAD |
|
|
rs527564842 CA217658018 |
228 | S>C | No |
ClinGen 1000Genomes |
|
|
rs1351409737 CA379643585 |
230 | S>G | No |
ClinGen gnomAD |
|
|
rs771014713 CA5882041 |
233 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs920661821 CA379643505 |
235 | S>N | No |
ClinGen TOPMed |
|
|
rs920661821 CA217657986 |
235 | S>T | No |
ClinGen TOPMed |
|
|
rs756472968 CA5882039 |
237 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236982889 CA379643446 |
239 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754830756 CA5882036 |
245 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751482124 CA5882035 |
251 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1208536189 CA379642167 |
252 | Y>F | No |
ClinGen TOPMed |
|
|
rs756866661 CA379642039 |
257 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379642023 rs753460066 |
258 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs753460066 CA5882010 |
258 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA379641979 rs1359813983 |
259 | P>L | No |
ClinGen gnomAD |
|
|
rs1359813983 CA379641984 |
259 | P>R | No |
ClinGen gnomAD |
|
|
CA379641910 rs1178795445 |
261 | Q>* | No |
ClinGen TOPMed |
|
|
CA379641839 rs774646461 |
263 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217656432 rs928271143 |
264 | E>G | No |
ClinGen TOPMed |
|
|
CA5882004 rs773385787 |
270 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223197381 CA379641562 |
271 | P>R | No |
ClinGen gnomAD |
|
|
CA217656398 rs1044734721 |
271 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5882002 rs748286044 |
272 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA379641506 rs1255429600 |
273 | I>V | No |
ClinGen gnomAD |
|
|
rs369222697 CA5882000 |
275 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000994575 rs778206706 CA379641399 |
276 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA217656354 rs778206706 |
276 | V>G | No |
ClinGen Ensembl |
|
|
rs1284766357 CA379641370 |
277 | H>P | No |
ClinGen TOPMed |
|
|
CA379641336 rs746749228 |
278 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881997 rs146971151 |
285 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775319050 CA5881978 |
289 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1458921072 CA379640204 |
292 | I>L | No |
ClinGen gnomAD |
|
|
rs1590716201 CA379640195 |
292 | I>T | No |
ClinGen Ensembl |
|
|
CA217654569 rs1025057775 |
295 | L>M | No |
ClinGen Ensembl |
|
|
rs368139267 CA5881976 |
297 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456142910 CA379640059 |
298 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778811954 CA5881975 |
299 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379639952 rs1420587751 |
302 | I>T | No |
ClinGen gnomAD |
|
|
CA379639967 rs1436284358 |
302 | I>V | No |
ClinGen gnomAD |
|
|
rs748766884 CA5881974 |
303 | P>A | No |
ClinGen ExAC gnomAD |
|
|
VAR_051766 rs16907355 |
303 | P>L | No |
UniProt dbSNP |
|
| TCGA novel | 303 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781039677 CA5881971 |
304 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881972 rs781039677 |
304 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758820956 CA217654524 |
305 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243615067 CA379639899 |
305 | C>Y | No |
ClinGen gnomAD |
|
|
rs1355246683 CA379639880 |
306 | I>V | No |
ClinGen gnomAD |
|
|
CA379639818 rs1309275831 |
308 | L>P | No |
ClinGen gnomAD |
|
|
rs762421132 CA5881967 |
313 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA379639734 rs1382570661 |
313 | E>K | No |
ClinGen TOPMed |
|
|
rs764107762 CA5881965 |
315 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217654471 rs1001294143 |
317 | H>R | No |
ClinGen Ensembl |
|
|
rs1381069212 CA379639551 |
320 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5881943 rs767661858 |
329 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774083800 CA5881941 |
330 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759768880 CA5881942 |
330 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762855361 CA5881939 |
336 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs762855361 CA379638382 |
336 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1019429493 CA217650744 |
337 | A>T | No |
ClinGen TOPMed |
|
|
rs149794117 CA5881938 |
339 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5881936 rs747543503 |
341 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5881934 rs573767915 |
343 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379638256 rs1424013927 |
345 | L>S | No |
ClinGen gnomAD |
|
|
rs1565106195 CA379638240 |
346 | S>F | No |
ClinGen Ensembl |
|
|
rs1590701555 CA379638009 |
355 | V>G | No |
ClinGen Ensembl |
|
|
rs1032796987 CA217650033 |
356 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs188588431 CA379638004 |
356 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1357393036 CA379637995 |
357 | A>T | No |
ClinGen gnomAD |
|
|
CA5881914 rs760315175 |
357 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA217650013 rs370621525 |
359 | F>L | No |
ClinGen gnomAD |
|
|
rs749551694 CA5881911 |
365 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1440299130 CA379637912 |
365 | Q>H | No |
ClinGen TOPMed |
|
|
CA379637899 rs1165411697 |
367 | F>C | No |
ClinGen gnomAD |
|
|
rs1240649771 CA379637857 |
373 | C>S | No |
ClinGen TOPMed |
|
|
CA379637833 rs1159918919 |
377 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379637822 rs1289973425 |
379 | I>V | No |
ClinGen TOPMed |
|
|
rs1247599264 CA379637766 RCV000761764 |
387 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA379637745 rs1397329019 |
388 | H>R | No |
ClinGen gnomAD |
|
|
CA379637728 rs1490002752 |
389 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379637045 rs1261244995 |
391 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5881886 rs758507268 |
392 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5881885 rs750623666 |
394 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs757108390 CA5881883 |
399 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1463328276 CA379636944 |
400 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM1746660 rs201970985 CA5881882 |
400 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5881880 rs760704483 |
406 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA379636883 rs1183650459 |
409 | S>N | No |
ClinGen gnomAD |
|
|
CA379636795 rs1201956778 |
422 | P>R | No |
ClinGen gnomAD |
|
|
rs767088494 CA5881878 |
423 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA379636765 rs1176677461 |
427 | C>Y | No |
ClinGen TOPMed |
|
|
CA379636525 rs1313728165 |
435 | A>D | No |
ClinGen gnomAD |
|
|
CA5881861 rs530030887 |
438 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1295817902 CA379636414 |
443 | V>A | No |
ClinGen gnomAD |
|
|
rs764407015 RCV000994574 CA5881855 |
447 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5881856 rs776937314 |
447 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA379636329 rs1590692954 |
449 | V>A | No |
ClinGen Ensembl |
|
|
CA379636325 rs1416059950 |
450 | K>Q | No |
ClinGen TOPMed |
|
|
rs760991977 CA5881854 |
451 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5881853 rs375708426 |
452 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379636244 rs1293582772 |
454 | H>R | No |
ClinGen TOPMed |
|
|
CA379636226 rs1325438512 |
455 | V>I | No |
ClinGen TOPMed |
|
|
CA217647057 rs919343419 |
463 | F>C | No |
ClinGen Ensembl |
|
|
rs142996856 CA5881849 |
463 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379636108 rs1340697376 |
463 | F>L | No |
ClinGen TOPMed |
|
|
rs749554143 CA5881848 |
464 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 465 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 466 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5881828 rs774536466 |
470 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217630163 rs774536466 |
470 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763176916 CA5881826 |
471 | H>R | No |
ClinGen ExAC |
|
|
CA5881827 rs771104991 |
471 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379630651 rs1167422217 |
472 | M>K | No |
ClinGen TOPMed |
|
|
rs1404576349 CA379630632 |
473 | A>E | No |
ClinGen gnomAD |
|
|
CA379630639 rs1399223922 COSM933726 |
473 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA240382 rs794727133 RCV000174802 |
474 | F>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5881823 rs780872200 |
479 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA379630402 rs769428964 |
484 | S>C | No |
ClinGen TOPMed |
|
|
rs944357021 CA217630110 |
484 | S>T | No |
ClinGen Ensembl |
|
|
CA217630109 rs769428964 |
484 | S>Y | No |
ClinGen TOPMed |
|
|
CA5881821 rs746915218 |
485 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5881820 rs538390886 |
487 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379630245 rs1191821732 |
490 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1191821732 CA379630242 |
490 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379630232 rs1444967360 |
491 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5881818 rs749999721 |
492 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756876385 CA379630123 |
496 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756876385 CA5881816 |
496 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017737322 CA217630085 |
498 | E>D | No |
ClinGen TOPMed |
|
|
CA379629986 rs1337655450 |
505 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379629929 rs1405170604 |
508 | N>D | No |
ClinGen gnomAD |
|
|
CA379629824 rs1480710758 |
513 | Q>E | No |
ClinGen gnomAD |
|
|
CA379629776 rs1411627374 |
514 | N>S | No |
ClinGen gnomAD |
|
|
CA379629676 rs1474146157 |
518 | A>V | No |
ClinGen gnomAD |
|
|
rs773438707 CA379629651 |
520 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5881809 rs773438707 |
520 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5881807 rs761972965 |
521 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA379629600 rs1474294434 |
522 | E>G | No |
ClinGen TOPMed |
|
|
CA217629980 rs1034644384 |
524 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs746860317 CA5881804 |
525 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA5881803 rs771998889 |
526 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881802 rs771998889 |
526 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 528 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 529 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379645117 rs1463494734 |
531 | P>L | No |
ClinGen TOPMed |
|
|
rs756897983 CA5881799 |
533 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752236581 CA217667786 |
533 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 534 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760392254 CA5881783 |
538 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379645050 rs1423486452 |
540 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5881780 rs372109447 |
541 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5881778 rs770325589 |
542 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA217664015 rs919657037 |
549 | R>K | No |
ClinGen Ensembl |
|
|
rs747327346 CA5881774 |
554 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs780595759 CA5881773 |
555 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758873920 CA5881772 |
556 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1316528242 CA379644927 |
559 | F>L | No |
ClinGen gnomAD |
|
|
rs1283360972 CA379644923 |
560 | I>L | No |
ClinGen gnomAD |
|
|
rs1226371442 CA379644905 |
562 | E>V | No |
ClinGen gnomAD |
|
|
rs1283855431 CA379644858 |
569 | E>K | No |
ClinGen gnomAD |
|
|
rs1297159068 CA379644687 |
571 | T>A | No |
ClinGen gnomAD |
|
|
CA5881759 rs748680181 |
572 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA379644633 rs1318125590 |
576 | L>F | No |
ClinGen gnomAD |
|
|
CA5881757 rs769530676 |
578 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA379644607 rs769530676 |
578 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747770554 CA5881756 |
578 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs546848579 CA5881755 |
580 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA379644573 rs1465030162 |
581 | G>R | No |
ClinGen gnomAD |
|
|
CA217662386 rs531757616 |
582 | K>N | No |
ClinGen gnomAD |
|
|
CA5881753 rs746307753 |
583 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5881754 rs772548517 |
583 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746307753 CA379644541 |
583 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757794028 CA5881751 |
584 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA379644512 rs1236686062 |
586 | Q>E | No |
ClinGen TOPMed |
|
|
CA379644487 rs1243570762 |
587 | C>Y | No |
ClinGen gnomAD |
|
|
CA5881750 rs753815752 |
588 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881748 rs138410095 |
591 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5881747 rs752899044 |
595 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1247772632 CA379644373 |
596 | V>G | No |
ClinGen gnomAD |
|
|
CA5881746 rs767784920 |
600 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA379644298 rs1394687873 |
601 | A>V | No |
ClinGen gnomAD |
|
|
CA5881744 rs751375939 RCV000236266 |
602 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5881743 rs765658939 |
604 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410184286 CA379644264 |
604 | D>H | No |
ClinGen TOPMed |
|
|
rs773062594 CA5881741 |
605 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1007994071 CA217662340 |
607 | Q>* | No |
ClinGen TOPMed |
|
|
rs370596037 CA5881739 |
609 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419579154 CA379644168 |
610 | Y>C | No |
ClinGen gnomAD |
|
|
CA217662330 rs964428805 |
611 | I>V | No |
ClinGen gnomAD |
|
|
rs1590618405 CA379644151 |
613 | R>G | No |
ClinGen Ensembl |
|
|
CA5881738 rs776414901 |
613 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs768423608 CA5881737 |
614 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA379644118 rs1252330189 |
617 | C>Y | No |
ClinGen gnomAD |
|
|
CA5881733 rs771304680 |
618 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779355592 CA379644112 |
618 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379644102 rs1313931426 |
620 | Q>* | No |
ClinGen gnomAD |
|
|
CA379644100 rs1486461683 |
620 | Q>R | No |
ClinGen gnomAD |
|
|
CA5881702 COSM4004602 rs765204789 |
621 | D>G | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA379646478 rs1265367504 |
621 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5881700 rs781028205 |
625 | L>VSNS* | No |
ClinGen ExAC |
|
|
rs753356950 CA5881699 |
626 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA379646401 rs1433023728 |
627 | E>* | No |
ClinGen gnomAD |
|
|
rs763631385 CA5881697 |
629 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1317926776 CA379646368 |
629 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217645626 rs376057124 |
631 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376057124 CA217645610 |
631 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1386270581 CA379646341 |
632 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1424401117 CA379646317 |
634 | L>S | No |
ClinGen gnomAD |
|
|
rs1457733746 CA379646311 |
635 | L>I | No |
ClinGen gnomAD |
|
|
CA217645579 rs544091616 |
636 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1170697086 CA379646301 |
636 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379646286 rs1373091395 |
637 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1475866303 CA379646276 |
638 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 639 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379646272 rs1187599830 |
639 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 640 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379646225 rs1204739991 |
642 | Y>C | No |
ClinGen gnomAD |
|
|
rs369755836 CA5881691 |
643 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531686117 CA217622305 |
645 | L>V | No |
ClinGen Ensembl |
|
|
CA379642589 rs1458832777 |
646 | A>S | No |
ClinGen TOPMed |
|
|
rs1458832777 CA379642587 |
646 | A>T | No |
ClinGen TOPMed |
|
|
rs1564923467 CA379642551 |
648 | G>R | No |
ClinGen Ensembl |
|
|
CA379642361 rs777190196 |
655 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760746974 CA5881670 |
656 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs138120231 CA379642343 |
656 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000994573 rs1590239797 |
659 | D>missing | No |
ClinVar dbSNP |
|
|
CA217622283 rs1027305940 |
659 | D>E | No |
ClinGen Ensembl |
|
|
CA379642280 rs1427267546 |
659 | D>G | No |
ClinGen gnomAD |
|
|
rs1366835506 CA379642258 |
660 | H>Y | No |
ClinGen gnomAD |
|
|
rs746054770 CA217622281 |
661 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746054770 CA379642227 |
661 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881667 rs746054770 |
661 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402967079 CA379642139 |
664 | T>K | No |
ClinGen TOPMed |
|
|
rs1404391761 CA379641941 |
669 | W>G | No |
ClinGen gnomAD |
|
|
CA379641914 rs1466440503 |
670 | E>K | No |
ClinGen TOPMed |
|
|
CA379641781 rs1180564715 |
674 | Y>H | No |
ClinGen gnomAD |
|
|
CA379641743 rs1292571534 |
675 | N>D | No |
ClinGen gnomAD |
|
|
rs375407366 CA379641723 |
675 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379641653 rs1287523312 |
677 | V>A | No |
ClinGen gnomAD |
|
|
CA379641592 rs752205856 |
678 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA379641535 rs1407911585 |
680 | Q>H | No |
ClinGen gnomAD |
|
|
rs1256059640 CA379641518 |
681 | V>I | No |
ClinGen TOPMed |
|
|
CA217622240 rs766553474 |
682 | R>C | No |
ClinGen gnomAD |
|
|
CA379641481 rs766553474 |
682 | R>G | No |
ClinGen gnomAD |
|
|
rs1293573608 CA379641451 |
682 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA379641454 rs1293573608 |
682 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 685 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 687 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031556969 CA217622232 |
688 | A>V | No |
ClinGen Ensembl |
|
|
CA217622229 rs930022510 |
690 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762095108 CA5881656 |
691 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881655 rs764612430 |
692 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5881654 rs764612430 |
692 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA217622206 rs553075066 |
693 | H>D | No |
ClinGen 1000Genomes |
|
|
rs141368249 CA379641097 |
694 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761116602 CA5881653 |
694 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5881651 rs772258194 |
695 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759749653 CA5881650 |
695 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 695 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000994572 rs759749653 CA379641083 |
695 | P>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs143314249 CA5881647 |
696 | H>R | No |
ClinGen ESP ExAC |
|
| TCGA novel | 696 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226539887 CA379640998 |
699 | Q>H | No |
ClinGen gnomAD |
|
|
rs777454581 CA5881646 |
699 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA379639558 rs746473762 |
701 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1469279320 CA379639446 |
704 | P>A | No |
ClinGen gnomAD |
|
|
CA379639411 rs1388585918 |
705 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780356737 CA217621548 |
707 | H>R | No |
ClinGen Ensembl |
|
|
CA5881622 rs779570389 |
707 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 708 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217621546 rs1011174968 |
709 | Q>* | No |
ClinGen Ensembl |
|
|
rs745485059 CA5881620 |
710 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1482217857 CA597901422 |
712 | T>* | No |
ClinGen gnomAD |
|
|
rs1199868372 CA379639237 |
712 | T>A | No |
ClinGen gnomAD |
|
|
rs1298087129 CA379639231 |
712 | T>I | No |
ClinGen TOPMed |
|
|
rs1199868372 CA379639239 |
712 | T>P | No |
ClinGen gnomAD |
|
|
rs778686587 CA5881619 |
713 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 714 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 716 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5881618 rs756431460 |
717 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272045781 CA379639161 |
718 | A>G | No |
ClinGen gnomAD |
|
|
rs1247703447 CA379639138 |
720 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5881616 rs768079951 |
722 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881614 rs755569072 |
725 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379639084 rs751653396 |
728 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379639070 rs1262382404 |
730 | S>A | No |
ClinGen TOPMed |
|
|
rs1262382404 CA379639072 |
730 | S>P | No |
ClinGen TOPMed |
|
|
rs200630878 CA5881612 |
731 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379639062 rs1368725189 |
731 | T>I | No |
ClinGen gnomAD |
|
|
rs267603259 CA217621527 |
732 | Q>* | No |
ClinGen Ensembl |
|
|
CA379639045 rs1458600209 |
734 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1262002839 CA379639036 |
735 | L>V | No |
ClinGen TOPMed |
|
|
CA379639032 rs1396400643 |
736 | V>M | No |
ClinGen TOPMed |
|
|
CA217621520 rs890907310 |
738 | H>R | No |
ClinGen gnomAD |
|
|
rs765498314 CA5881609 |
741 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA379638983 rs1182726964 |
742 | T>I | No |
ClinGen gnomAD |
|
|
CA5881608 rs552354724 |
745 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379638957 rs1434790229 |
746 | Q>R | No |
ClinGen TOPMed |
|
|
CA217621515 rs912815113 |
749 | H>D | No |
ClinGen TOPMed |
|
| TCGA novel | 750 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374047896 CA5881604 |
751 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5881601 rs745452169 |
754 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs778364907 CA5881600 |
756 | N>I | No |
ClinGen ExAC |
|
|
rs370321615 CA5881598 |
757 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305000090 CA379638874 |
759 | V>A | No |
ClinGen gnomAD |
|
|
rs1387611025 CA379638866 |
760 | P>L | No |
ClinGen gnomAD |
|
|
rs1390313538 CA379638863 |
761 | L>F | No |
ClinGen gnomAD |
|
|
CA379638854 rs1413823790 |
762 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5881596 rs755437486 |
763 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752094261 CA5881595 |
765 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs376985629 CA5881594 |
768 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs954171984 CA217621484 |
771 | T>I | No |
ClinGen TOPMed |
|
|
CA379638786 rs1269156551 |
773 | A>S | No |
ClinGen gnomAD |
|
|
CA5881590 rs762123148 |
774 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 774 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488024984 CA379638776 |
775 | G>D | No |
ClinGen TOPMed |
|
|
CA5881589 rs763852706 |
776 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1191429876 CA379638758 |
777 | W>C | No |
ClinGen TOPMed |
|
|
rs1321841784 CA379638764 |
777 | W>R | No |
ClinGen gnomAD |
|
|
rs1590234203 CA379638719 |
783 | S>C | No |
ClinGen Ensembl |
|
|
CA379638691 rs1409704482 |
787 | N>S | No |
ClinGen gnomAD |
|
|
CA16619421 rs1064796978 RCV000482016 |
788 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1414969138 CA379638640 |
793 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 797 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5881569 rs752504572 |
797 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767309728 CA5881568 |
798 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239562628 CA379638580 |
801 | S>T | No |
ClinGen gnomAD |
|
|
CA379637704 rs1412476585 |
806 | S>A | No |
ClinGen TOPMed |
|
|
rs567119709 CA5881565 |
807 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5881563 rs762612756 |
812 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1564917922 CA379637657 |
813 | N>S | No |
ClinGen Ensembl |
|
|
COSM430126 CA5881556 rs779344635 |
821 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs757323907 CA379637611 |
821 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757323907 COSM1675838 CA5881555 |
821 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1564917788 CA379637580 RCV000761763 RCV001449603 |
826 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379637561 rs1477850575 |
828 | T>I | No |
ClinGen Ensembl |
|
|
rs1182829636 CA379637551 |
830 | S>G | No |
ClinGen gnomAD |
|
|
rs770201190 CA379637541 |
831 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767317422 CA379637521 |
834 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1483458304 CA379637501 |
837 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1483458304 CA379637502 |
837 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5881549 rs754783661 |
838 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881548 rs751504575 |
841 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5881546 rs762490970 |
843 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228700161 CA379637434 |
843 | M>V | No |
ClinGen gnomAD |
|
|
CA5881530 rs754801054 |
848 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs754801054 CA379637255 |
848 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs190920887 CA5881527 |
851 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379637105 rs1590225631 |
857 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 858 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs974470934 CA217620520 |
859 | H>R | No |
ClinGen gnomAD |
|
|
rs969314981 CA217620522 |
859 | H>Y | No |
ClinGen TOPMed |
|
|
rs764814296 COSM933710 CA5881525 RCV000658586 |
860 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA379637092 rs764814296 |
860 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5881524 rs761286453 |
862 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 864 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1018709269 CA217620516 |
864 | R>S | No |
ClinGen Ensembl |
|
|
CA217620512 rs1004696608 |
865 | L>R | No |
ClinGen Ensembl |
|
|
RCV000658585 rs1554925904 |
866 | P>missing | No |
ClinVar dbSNP |
|
|
rs750641739 CA5881520 |
868 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 869 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780477645 CA5881485 |
872 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372339194 CA379635976 |
872 | K>R | No |
ClinGen gnomAD |
|
|
rs1169416696 CA379635944 |
874 | L>R | No |
ClinGen TOPMed |
|
|
CA10584395 RCV000235757 rs879254037 |
875 | R>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5881483 rs745662567 |
875 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA217619705 rs912881512 |
876 | P>L | No |
ClinGen TOPMed |
|
|
CA379635916 rs912881512 |
876 | P>R | No |
ClinGen TOPMed |
|
|
RCV000992808 CA379635895 rs1256780818 |
878 | L>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1181149597 CA379635878 |
879 | L>P | No |
ClinGen gnomAD |
|
|
CA5881482 rs778934333 |
881 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379635802 rs1205478175 |
884 | I>V | No |
ClinGen gnomAD |
|
|
CA5881481 rs757164829 |
886 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs777117399 CA5881479 |
888 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369589966 CA5881480 |
888 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552340604 CA5881476 |
894 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel CA379635637 rs1590218571 |
895 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs763238935 CA5881475 |
899 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1342382213 CA379635573 |
900 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 901 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5881473 rs376463609 |
902 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379635564 rs376463609 |
902 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5881474 rs376463609 |
902 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379635541 rs760903950 |
906 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881468 rs151086599 |
909 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772434817 CA5881467 |
912 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001090229 rs1856815119 |
913 | P>R | No |
ClinVar dbSNP |
|
| TCGA novel | 915 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540474401 CA5881465 |
915 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314403607 CA379635468 |
918 | L>S | No |
ClinGen gnomAD |
|
|
COSM933705 CA379635415 rs1193714532 |
926 | L>I | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 927 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749161174 CA5881463 |
928 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1232057123 CA379635396 |
928 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1051039667 CA217619666 |
929 | G>R | No |
ClinGen TOPMed |
|
|
rs921334010 CA217619657 |
932 | H>D | No |
ClinGen TOPMed |
|
|
CA379635362 rs1303747159 |
934 | Q>* | No |
ClinGen gnomAD |
|
|
rs1387558106 CA379635360 |
934 | Q>R | No |
ClinGen gnomAD |
|
|
rs765492801 CA5881456 |
935 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5881457 rs751248866 |
935 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881437 rs757496509 |
937 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5881436 rs754241592 COSM1159824 |
938 | E>G | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA379634121 rs1344093861 |
938 | E>K | No |
ClinGen gnomAD |
|
|
CA5881435 rs756720332 |
940 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379634020 rs1324654662 |
943 | R>G | No |
ClinGen gnomAD |
|
|
rs1396124536 CA379634006 |
944 | S>C | No |
ClinGen gnomAD |
|
|
CA5881432 rs767683060 |
944 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5881431 rs759749693 |
946 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA379633939 rs1167719463 |
947 | I>T | No |
ClinGen gnomAD |
|
|
CA5881429 rs766631000 |
947 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770720729 CA217618891 |
949 | S>F | No |
ClinGen Ensembl |
|
|
CA379633883 rs1188784396 |
951 | T>A | No |
ClinGen gnomAD |
|
|
CA379633868 rs1373401729 |
952 | K>E | No |
ClinGen TOPMed |
|
|
rs1485425342 CA379633829 |
954 | K>E | No |
ClinGen gnomAD |
|
|
rs769324671 CA217618887 |
954 | K>R | No |
ClinGen TOPMed |
|
|
CA5881426 rs769683368 |
955 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA379633747 rs1279031090 |
958 | M>I | No |
ClinGen TOPMed |
|
|
CA379633760 rs901770002 |
958 | M>L | No |
ClinGen gnomAD |
|
|
rs761712520 CA379633734 |
959 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs761712520 CA5881425 |
959 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5881424 rs776603587 |
961 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA379633648 CA379633652 rs1310515958 |
966 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1212787771 CA379633657 |
966 | M>K | No |
ClinGen TOPMed |
|
|
CA5881420 rs771777012 |
966 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs887163770 CA217618863 |
967 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 968 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199035121 CA379633587 |
971 | Q>K | No |
ClinGen TOPMed |
|
|
rs1362692538 CA379633559 |
972 | I>T | No |
ClinGen TOPMed |
|
|
CA379633535 rs1469094891 |
974 | S>P | No |
ClinGen TOPMed |
|
|
CA379633491 rs1564909729 |
976 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 976 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416407004 CA379633454 |
978 | Q>H | No |
ClinGen gnomAD |
|
|
rs761661192 CA5881406 |
979 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479115379 CA379633355 |
981 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1206611207 CA379633344 |
982 | V>A | No |
ClinGen TOPMed |
|
|
CA5881403 rs548242051 |
983 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768593018 CA5881404 |
983 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881402 rs775095719 |
984 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 984 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 985 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5881401 rs771521208 |
985 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5881400 rs143883319 |
985 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs900766041 CA217618553 |
987 | E>D | No |
ClinGen Ensembl |
|
|
CA379633300 rs1590208930 |
989 | S>G | No |
ClinGen Ensembl |
|
|
CA217618552 rs773521205 |
991 | E>K | No |
ClinGen Ensembl |
|
|
CA379633246 rs1389833511 |
992 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA217618549 rs553669324 |
997 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA379633123 rs1369325094 |
998 | K>E | No |
ClinGen gnomAD |
|
|
rs770281252 CA5881398 |
999 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1420161648 CA379633080 |
999 | Q>R | No |
ClinGen gnomAD |
|
|
CA5881397 rs748529255 |
1000 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA379633065 rs748529255 |
1000 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs551204540 CA217618544 |
1003 | F>C | No |
ClinGen gnomAD |
|
|
rs1454730909 CA379633016 |
1003 | F>L | No |
ClinGen gnomAD |
|
|
CA217618543 rs1008990516 |
1004 | R>C | No |
ClinGen TOPMed |
|
|
CA379632958 rs1416203235 |
1005 | Y>F | No |
ClinGen gnomAD |
|
|
CA379632970 rs1355106544 |
1005 | Y>H | No |
ClinGen TOPMed |
|
|
CA5881394 rs751558202 |
1007 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs758462401 CA5881392 |
1008 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5881393 rs780155360 |
1008 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1250903394 CA379632827 |
1011 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV000503186 CA379632734 rs560152920 |
1014 | A>G | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs560152920 CA5881390 |
1014 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213045894 CA379632686 |
1016 | A>P | No |
ClinGen gnomAD |
|
|
rs1411826795 CA379632670 |
1017 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1296439132 CA379632632 |
1019 | Q>K | No |
ClinGen TOPMed |
|
|
rs1300237309 CA379632455 |
1024 | I>R | No |
ClinGen gnomAD |
|
|
rs1383078178 CA379632398 |
1026 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1026 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217618531 rs929108873 |
1028 | K>Q | No |
ClinGen gnomAD |
|
|
rs577937581 CA5881383 |
1032 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379632214 RCV001288385 rs1258242566 |
1033 | N>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1590208474 CA379632170 |
1034 | T>S | No |
ClinGen Ensembl |
|
|
CA5881380 rs748477865 |
1037 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA379631178 rs1475356604 |
1040 | S>P | No |
ClinGen TOPMed |
|
|
CA379631152 rs1186639617 |
1044 | V>L | No |
ClinGen gnomAD |
|
|
rs769055792 CA5881360 |
1045 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5881359 rs747335187 |
1046 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776003865 CA5881358 |
1048 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5881357 rs772476606 |
1050 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA217617961 rs556594133 |
1052 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs778930864 CA5881355 |
1056 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5881351 rs755872658 |
1060 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881347 rs751591965 |
1068 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs765970008 CA5881346 |
1068 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881348 rs751591965 |
1068 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA217617944 rs933788288 |
1069 | V>L | No |
ClinGen gnomAD |
|
|
CA379630996 rs933788288 |
1069 | V>M | No |
ClinGen gnomAD |
|
|
rs1459465514 CA379630990 |
1070 | E>K | No |
ClinGen gnomAD |
|
|
rs1268294550 CA379630979 |
1071 | E>G | No |
ClinGen TOPMed |
|
|
rs1342154806 CA379630975 |
1072 | R>G | No |
ClinGen TOPMed |
|
|
rs762614867 CA5881345 |
1073 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762614867 CA379630967 |
1073 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs568303179 CA217617941 |
1075 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs568303179 CA5881343 |
1075 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM933700 CA217617943 rs750021823 |
1075 | R>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1273176256 CA379630879 |
1080 | E>K | No |
ClinGen gnomAD |
|
|
CA5881340 rs772526531 |
1082 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA379630794 rs1331366931 |
1084 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1088 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759960685 CA5881321 |
1090 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881319 rs771442804 |
1092 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs953467120 CA217617370 |
1093 | P>S | No |
ClinGen TOPMed |
|
|
rs769960032 CA5881316 |
1094 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5881310 rs780087203 |
1099 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379628980 rs1445416739 |
1101 | S>T | No |
ClinGen gnomAD |
|
|
CA5881309 rs758439338 |
1101 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379628948 rs1278380706 |
1102 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1111 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368513003 CA5881304 |
1112 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375814897 CA5881303 |
1113 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1008665881 CA217617353 |
1117 | D>E | No |
ClinGen Ensembl |
|
|
rs1251176111 CA379628635 |
1120 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA379628630 rs1374475303 COSM372652 |
1120 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA217617351 rs890315285 |
1122 | G>S | No |
ClinGen Ensembl |
|
|
CA5881299 rs773821974 |
1126 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5881298 rs765222085 |
1127 | S>N | No |
ClinGen ExAC |
|
|
rs1167884517 CA379628566 |
1127 | S>R | No |
ClinGen gnomAD |
|
|
CA379628559 rs1474699941 |
1128 | G>S | No |
ClinGen gnomAD |
|
|
CA5881296 rs187674701 |
1129 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379628553 rs1226572121 |
1129 | S>R | No |
ClinGen gnomAD |
|
|
rs1855964179 RCV001090228 |
1130 | S>C | No |
ClinVar dbSNP |
|
|
CA379628546 rs1474888307 |
1130 | S>P | No |
ClinGen gnomAD |
|
|
rs1400827524 CA379628538 |
1131 | S>Y | No |
ClinGen TOPMed |
|
|
COSM1605420 CA5881294 rs542885230 |
1132 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM1358056 rs775391548 CA5881293 |
1132 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775391548 CA379628532 |
1132 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881292 rs772039454 |
1133 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5881290 rs778974789 |
1134 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA379628514 rs1294984777 |
1136 | E>K | No |
ClinGen gnomAD |
|
|
CA5881287 rs777356464 |
1139 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA379628486 rs1443885822 |
1139 | R>S | No |
ClinGen gnomAD |
|
|
CA379628472 rs1333338011 |
1142 | A>S | No |
ClinGen gnomAD |
|
|
rs1333338011 CA379628470 |
1142 | A>T | No |
ClinGen gnomAD |
|
|
CA379628440 rs1408533890 |
1146 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs766709811 CA379628422 |
1149 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3383951 CA5881282 rs750893713 |
1151 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 1157 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5881254 rs201555861 |
1159 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379645856 rs1564893485 |
1160 | P>S | No |
ClinGen Ensembl |
|
|
rs1032327849 CA217634318 |
1163 | V>A | No |
ClinGen TOPMed |
|
|
CA379645816 rs1291081551 |
1163 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5881251 rs773143809 |
1166 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5881249 rs747720080 |
1169 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747720080 CA217634302 |
1169 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5881250 rs535680998 |
1169 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1009751746 CA217634260 |
1174 | C>Y | No |
ClinGen Ensembl |
|
|
COSM1746658 CA5881241 rs756250324 |
1175 | Y>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA379645694 rs1310790545 |
1178 | N>S | No |
ClinGen gnomAD |
|
|
rs759762973 CA5881238 |
1179 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379645665 rs1276410945 |
1183 | V>A | No |
ClinGen gnomAD |
|
|
rs762738168 CA5881235 |
1184 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs773125352 CA5881234 |
1187 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5881233 rs769777008 |
1189 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1233210265 CA379645625 |
1189 | R>K | No |
ClinGen gnomAD |
|
|
rs147512161 CA379645609 |
1191 | G>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs147512161 CA217634186 |
1191 | G>D | No |
ClinGen 1000Genomes TOPMed |
|
|
rs768076833 CA5881231 |
1192 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768076833 CA5881230 |
1192 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379645580 rs1590177928 |
1197 | S>C | No |
ClinGen Ensembl |
|
|
CA5881225 rs778402812 |
1201 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781282456 CA5881223 |
1204 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379645539 rs1209707574 |
1204 | G>R | No |
ClinGen gnomAD |
|
|
rs781282456 CA5881222 |
1204 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755024164 CA5881221 |
1205 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1410454526 CA379645534 |
1205 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM180445 rs1307459430 CA379645529 |
1206 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs780031979 CA217634072 |
1209 | F>L | No |
ClinGen Ensembl |
|
|
CA379645496 rs1356162033 |
1211 | S>C | No |
ClinGen gnomAD |
|
|
rs202077715 CA5881218 |
1211 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379645495 rs1356162033 |
1211 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA379645486 rs1292949007 |
1212 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA217634059 rs931271200 |
1214 | S>Y | No |
ClinGen TOPMed |
|
|
CA5881216 rs761692235 |
1216 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA379645427 rs1439541685 |
1220 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA379645422 rs1455810137 |
1221 | S>F | No |
ClinGen TOPMed |
|
|
CA5881194 rs763997218 |
1221 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA379645406 rs1469328611 |
1224 | E>A | No |
ClinGen gnomAD |
|
|
rs759215256 CA5881190 |
1225 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5881192 rs371544430 |
1225 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379645389 rs1261598853 |
1227 | S>N | No |
ClinGen gnomAD |
|
|
rs770215844 CA5881188 |
1228 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1234 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777179870 CA5881186 |
1234 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1236 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769088887 CA5881185 |
1236 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs780063404 CA5881183 |
1237 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5881184 rs747076888 |
1237 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5881180 rs779174513 |
1241 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA379645285 rs1378054660 |
1242 | V>A | No |
ClinGen gnomAD |
|
|
rs757063919 CA5881179 |
1244 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777736706 CA5881177 |
1245 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs534407041 CA5881176 |
1246 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379645247 rs1430417099 |
1248 | L>H | No |
ClinGen gnomAD |
|
|
CA5881174 rs767076046 |
1250 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1564889923 CA379645222 |
1252 | S>T | No |
ClinGen Ensembl |
|
|
CA379645217 rs1564889918 |
1253 | T>A | No |
ClinGen Ensembl |
|
|
CA5881171 rs149207066 |
1254 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5881168 rs375141782 |
1255 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5881167 rs761033065 |
1256 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs775982886 CA379645197 |
1257 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775982886 CA5881166 |
1257 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881164 rs746007277 |
1259 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5881165 rs746007277 |
1259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771098273 CA5881162 |
1262 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA217624596 rs950017837 |
1266 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1481518092 CA379644817 |
1267 | W>L | No |
ClinGen TOPMed |
|
|
rs1221684685 CA379644806 |
1269 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1221684685 CA379644807 |
1269 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5881130 rs201249004 |
1271 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201249004 CA5881131 |
1271 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1387757468 CA379644774 |
1274 | T>I | No |
ClinGen gnomAD |
|
|
CA217624566 rs956737183 |
1275 | R>C | No |
ClinGen TOPMed |
|
|
rs150028248 CA379644770 |
1275 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150028248 CA379644771 |
1275 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770101048 CA5881125 |
1280 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs770101048 CA379644741 |
1280 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1320584263 CA379644736 |
1281 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA379644726 rs1442358051 |
1282 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA217624549 rs998473289 |
1284 | I>T | No |
ClinGen TOPMed |
|
|
CA379644688 rs1157835054 |
1287 | G>A | No |
ClinGen gnomAD |
|
|
rs555239689 CA5881121 |
1288 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA217624525 rs757836523 |
1289 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369969768 CA217624517 |
1290 | L>M | No |
ClinGen ESP gnomAD |
|
|
rs1302632505 CA379644626 |
1293 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5881114 rs753512736 |
1294 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA379644601 rs1590148692 |
1295 | H>P | No |
ClinGen Ensembl |
|
|
CA217624488 rs886183649 |
1300 | S>T | No |
ClinGen Ensembl |
|
|
rs1296572528 CA379644496 |
1303 | S>R | No |
ClinGen gnomAD |
|
|
rs1417707386 CA379644478 |
1304 | Y>H | No |
ClinGen gnomAD |
|
|
CA379644410 rs1413864027 |
1308 | Q>H | No |
ClinGen gnomAD |
|
|
rs1176767492 CA379644415 |
1308 | Q>R | No |
ClinGen gnomAD |
|
|
CA379644399 rs1564879807 |
1309 | L>F | No |
ClinGen Ensembl |
|
|
rs777001436 CA379644362 |
1312 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777001436 CA5881105 |
1312 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486884297 CA379644323 |
1315 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1191018953 CA379644326 |
1315 | A>T | No |
ClinGen gnomAD |
|
|
CA5881102 rs566475447 |
1319 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379644232 rs1310958792 |
1322 | K>N | No |
ClinGen gnomAD |
|
|
CA5881099 rs539088397 |
1324 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5881080 rs748855107 |
1328 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1367580175 CA379643607 |
1329 | K>E | No |
ClinGen TOPMed |
|
|
rs1458939189 CA379643601 |
1329 | K>R | No |
ClinGen gnomAD |
|
|
CA5881078 rs769472252 |
1336 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5881077 rs747783915 |
1344 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5881076 rs780414997 |
1345 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA379643344 rs1215695892 |
1349 | V>M | No |
ClinGen gnomAD |
|
|
CA5881073 rs527347035 |
1351 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5881072 rs201951073 |
1352 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379643255 rs1242854324 |
1355 | K>N | No |
ClinGen gnomAD |
|
|
RCV000522218 rs1554907847 CA379643245 |
1357 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs545056135 CA5881071 |
1359 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760902659 CA5881070 |
1361 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5881069 rs752877786 |
1362 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767276878 CA5881068 |
1364 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1364 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217622277 rs960238401 |
1365 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379643134 rs1362020336 COSM545877 |
1367 | T>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs772666052 CA5881063 |
1369 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1266789719 CA379643043 |
1371 | V>G | No |
ClinGen gnomAD |
|
|
CA379643067 rs149501654 |
1371 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1217139040 CA379643002 |
1375 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5881056 rs757803111 |
1379 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA379642942 rs1235302192 |
1379 | D>H | No |
ClinGen gnomAD |
|
|
rs1235302192 CA379642943 |
1379 | D>N | No |
ClinGen gnomAD |
|
|
CA379642928 rs1300030348 |
1380 | S>C | No |
ClinGen gnomAD |
|
|
CA379642933 rs1564876099 |
1380 | S>T | No |
ClinGen Ensembl |
|
|
rs1270580365 CA379642916 |
1381 | E>D | No |
ClinGen gnomAD |
|
|
CA5881055 rs138028341 |
1384 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145723787 CA5881032 |
1387 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA217620793 rs756204042 |
1388 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1382512119 CA379642469 |
1389 | I>L | No |
ClinGen TOPMed |
|
|
rs748224039 CA5881029 |
1391 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5881027 rs755152304 |
1394 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA217620785 rs1017765700 |
1395 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs751799091 CA5881026 |
1396 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA5881024 rs779762945 |
1400 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758191255 CA5881023 |
1401 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5881020 rs761357466 |
1407 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379641965 rs1285573653 |
1409 | C>S | No |
ClinGen gnomAD |
|
|
rs1340217759 CA379641815 |
1413 | G>D | No |
ClinGen gnomAD |
|
|
rs1026997126 CA217620764 |
1413 | G>S | No |
ClinGen TOPMed |
|
|
rs1479754998 CA379640424 |
1421 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1421 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379640421 rs1590131095 |
1422 | S>P | No |
ClinGen Ensembl |
|
|
rs760329902 CA5880996 |
1427 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1312716983 CA379640322 |
1430 | P>S | No |
ClinGen gnomAD |
|
|
rs749114935 CA217620509 |
1431 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1432 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450691628 CA379640255 |
1433 | R>G | No |
ClinGen gnomAD |
|
|
CA379640225 rs1289073228 |
1434 | T>A | No |
ClinGen gnomAD |
|
|
rs536618256 CA217620507 |
1435 | L>F | No |
ClinGen 1000Genomes |
|
|
CA5880995 rs752386549 |
1437 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs767325525 CA5880994 |
1438 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA10584394 RCV000235454 rs879253988 |
1439 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379640086 rs1320577948 |
1440 | M>I | No |
ClinGen TOPMed |
|
|
rs763376856 CA5880993 |
1440 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763376856 CA217620498 |
1440 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1442 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1445 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346116541 CA379639957 |
1447 | L>V | No |
ClinGen TOPMed |
|
|
CA5880992 rs773408788 |
1454 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1455 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1458 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360901210 CA379639552 |
1463 | C>S | No |
ClinGen gnomAD |
|
|
rs1360901210 CA379639556 |
1463 | C>Y | No |
ClinGen gnomAD |
|
|
CA5880988 rs768715777 |
1466 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1467 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1469 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477403655 CA379639303 |
1473 | L>F | No |
ClinGen gnomAD |
|
|
rs747146155 CA5880987 |
1479 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA379636683 rs1590103748 |
1485 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1489 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5880970 rs370223105 |
1493 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1260114449 CA379636619 |
1494 | L>F | No |
ClinGen gnomAD |
|
|
CA217611959 rs1037540987 |
1495 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1496 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379636595 rs1293686902 |
1497 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1497 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212663064 CA379636592 |
1498 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1503 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5880966 rs775502481 |
1504 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA217611942 rs957139698 |
1505 | V>G | No |
ClinGen TOPMed |
|
|
rs895141835 CA217611934 |
1506 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs777819419 CA5880960 |
1513 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs906589672 CA217611912 |
1521 | L>I | No |
ClinGen Ensembl |
|
|
rs373469060 CA217611906 |
1523 | H>N | No |
ClinGen ESP |
|
|
CA379635336 rs1442416353 |
1524 | G>E | No |
ClinGen TOPMed |
|
|
rs768034301 CA5880937 |
1527 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367937710 CA379635301 |
1529 | D>G | No |
ClinGen gnomAD |
|
|
CA379635286 rs1423180682 |
1531 | G>E | No |
ClinGen gnomAD |
|
|
CA5880935 rs779463720 |
1534 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs546392558 CA5880934 |
1535 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs930093275 CA379635240 |
1537 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1268491831 CA379635235 |
1538 | G>A | No |
ClinGen gnomAD |
|
|
rs1433835944 CA379635239 |
1538 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778049558 CA5880932 |
1545 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1489365711 CA379635187 |
1545 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1546 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268246724 CA379635142 |
1551 | R>G | No |
ClinGen gnomAD |
|
|
rs1234868701 CA379635103 |
1554 | I>T | No |
ClinGen gnomAD |
|
|
rs1590090318 CA379635093 |
1555 | F>V | No |
ClinGen Ensembl |
|
|
rs1282300033 CA379635075 |
1556 | F>S | No |
ClinGen gnomAD |
|
|
rs751615833 CA5880927 |
1559 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453584782 CA379635005 |
1561 | S>A | No |
ClinGen TOPMed |
|
|
CA5880924 rs773572029 |
1562 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs763209708 CA5880925 |
1562 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1466657192 CA379634952 |
1564 | E>D | No |
ClinGen gnomAD |
|
|
rs115345208 CA379634949 |
1565 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379634940 rs1252314607 |
1565 | I>T | No |
ClinGen TOPMed |
|
|
CA379634933 rs1174317247 |
1566 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1567 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189316809 CA379634554 |
1567 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1189316809 CA379634553 |
1567 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1242394696 CA379634514 |
1570 | P>L | No |
ClinGen gnomAD |
|
|
rs1352464701 CA379634492 |
1572 | V>I | No |
ClinGen TOPMed |
|
|
rs1590087776 CA379634483 |
1573 | N>T | No |
ClinGen Ensembl |
|
|
CA379634468 rs1336997557 |
1574 | V>A | No |
ClinGen gnomAD |
|
|
CA5880902 rs186823023 |
1574 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5880901 rs760597188 |
1575 | S>P | No |
ClinGen ExAC |
|
|
rs894021091 CA217608593 |
1577 | L>F | No |
ClinGen Ensembl |
|
|
CA379634373 rs745432558 |
1581 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs773963582 CA5880897 |
1584 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA217608560 rs141187925 |
1584 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1554900597 RCV000523243 CA379634291 |
1587 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379634258 rs1408465788 |
1591 | G>C | No |
ClinGen gnomAD |
|
|
CA217608539 rs762915016 |
1592 | P>R | No |
ClinGen Ensembl |
|
|
CA5880894 rs552170470 |
1592 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379634216 rs1181265711 |
1595 | D>N | No |
ClinGen TOPMed |
|
|
rs1181653907 CA379634192 |
1596 | W>* | No |
ClinGen gnomAD |
|
|
rs1248666223 CA379634181 |
1597 | M>T | No |
ClinGen Ensembl |
|
|
CA379634166 rs1441409578 |
1598 | M>R | No |
ClinGen gnomAD |
|
|
CA5880891 rs183468503 |
1600 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5880892 rs747546558 |
1600 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA217608523 rs199670153 |
1603 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757498268 CA5880887 |
1603 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590087523 CA379634120 |
1604 | F>L | No |
ClinGen Ensembl |
|
|
CA5880885 rs763946876 |
1605 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1279041281 CA379634106 |
1606 | S>P | No |
ClinGen gnomAD |
|
|
rs775480277 CA5880883 |
1609 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1324409129 CA379634042 |
1612 | A>P | No |
ClinGen gnomAD |
|
|
CA217608508 rs370370797 |
1614 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA379633991 rs1590087429 |
1617 | P>Q | No |
ClinGen Ensembl |
|
|
rs1292392897 CA379633959 |
1621 | R>G | No |
ClinGen TOPMed |
|
|
CA379633949 rs1157545020 |
1622 | R>G | No |
ClinGen gnomAD |
|
|
CA379633935 rs1484644172 |
1623 | T>S | No |
ClinGen gnomAD |
|
|
CA379633903 rs772803513 |
1626 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs975331904 CA217608480 |
1626 | P>R | No |
ClinGen TOPMed |
|
|
rs772803513 CA5880877 |
1626 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs530306857 CA5880876 |
1629 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1421053684 CA379633846 |
1631 | V>I | No |
ClinGen TOPMed |
|
|
rs747381897 CA5880875 |
1633 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379633810 rs1267253989 |
1634 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1173593239 CA379633805 |
1634 | T>I | No |
ClinGen Ensembl |
|
|
CA379633793 rs1182836795 |
1635 | Q>H | No |
ClinGen TOPMed |
|
|
CA5880874 rs780578540 |
1637 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1284170057 CA379633744 |
1640 | T>S | No |
ClinGen gnomAD |
|
|
CA5880871 rs779071093 |
1642 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757479870 CA5880870 |
1643 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA379633720 rs757479870 |
1643 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA379633204 rs1428687384 |
1645 | E>K | No |
ClinGen gnomAD |
|
|
CA5880856 rs775945548 |
1646 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474066588 CA379633132 |
1648 | K>N | No |
ClinGen gnomAD |
|
|
CA379633143 rs1185073544 |
1648 | K>T | No |
ClinGen gnomAD |
|
|
CA379633087 rs1457622487 |
1650 | E>V | No |
ClinGen gnomAD |
|
|
rs1332609571 CA379633056 |
1652 | K>R | No |
ClinGen TOPMed |
|
|
CA5880854 rs551442652 |
1655 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5880853 rs139634638 |
1656 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5880851 rs749371792 |
1658 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA379632856 rs1299342301 |
1663 | L>M | No |
ClinGen gnomAD |
|
|
rs752980428 CA5880847 |
1664 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1590083654 CA379632782 |
1665 | E>G | No |
ClinGen Ensembl |
|
|
CA217607501 rs368827184 |
1665 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs1278437485 CA379632762 |
1666 | R>G | No |
ClinGen TOPMed |
|
|
CA5880846 rs780895916 |
1666 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA379632731 rs1590083637 |
1667 | V>G | No |
ClinGen Ensembl |
|
|
rs762493267 CA5880842 |
1670 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177790220 CA379632637 |
1671 | L>F | No |
ClinGen gnomAD |
|
|
rs761306883 CA5880838 |
1673 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs776494289 CA5880837 |
1675 | P>T | No |
ClinGen ExAC |
|
|
rs75598385 CA5880836 |
1676 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760027294 CA5880835 |
1677 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774971903 CA5880834 |
1678 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5880832 rs79401259 |
1679 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148468522 CA5880800 |
1685 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5880797 rs755772741 |
1687 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs752405074 CA5880796 |
1688 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs752405074 CA217606119 |
1688 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5880793 rs773566323 |
1689 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5880794 rs573421647 |
1689 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5880792 rs765809614 |
1690 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs935208245 CA217606089 |
1693 | T>A | No |
ClinGen TOPMed |
|
|
rs1293920384 CA379631748 |
1695 | L>P | No |
ClinGen TOPMed |
|
|
CA379631750 rs768734179 |
1695 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA379631745 rs1328602511 |
1696 | P>A | No |
ClinGen TOPMed |
|
|
rs947447768 CA217606086 |
1697 | S>F | No |
ClinGen TOPMed |
|
|
rs775840320 CA5880787 |
1698 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs747166274 CA5880788 |
1698 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1379241648 CA379631708 |
1701 | R>S | No |
ClinGen gnomAD |
|
|
rs553493779 CA5880784 |
1705 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553493779 CA379631688 |
1705 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA217606047 rs538233130 |
1709 | S>N | No |
ClinGen Ensembl |
|
|
CA379631644 rs1174517945 |
1711 | M>I | No |
ClinGen gnomAD |
|
|
rs942888639 CA217606043 |
1711 | M>L | No |
ClinGen TOPMed |
|
|
rs942888639 CA379631648 |
1711 | M>V | No |
ClinGen TOPMed |
|
|
rs757214892 CA379631638 |
1712 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1266114297 CA379631627 |
1714 | E>K | No |
ClinGen gnomAD |
|
|
rs777353842 CA5880782 |
1715 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379631616 rs1203047342 |
1715 | Q>R | No |
ClinGen TOPMed |
|
|
CA379631600 rs1428957767 |
1717 | S>F | No |
ClinGen TOPMed |
|
|
CA379631603 rs1193551082 |
1717 | S>P | No |
ClinGen gnomAD |
|
|
rs1427863632 CA379631589 |
1719 | I>F | No |
ClinGen gnomAD |
|
|
rs201287022 CA217606028 |
1719 | I>N | No |
ClinGen gnomAD |
|
|
rs1184973617 CA379631582 |
1720 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1590077175 CA379631584 |
1720 | S>P | No |
ClinGen Ensembl |
|
|
CA379631581 rs1184973617 |
1720 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA217606024 rs987108052 |
1721 | P>A | No |
ClinGen Ensembl |
|
|
CA5880780 rs755754461 |
1723 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA379631563 rs1452599195 |
1723 | N>K | No |
ClinGen TOPMed |
|
|
rs752274961 CA5880779 |
1723 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758654348 CA5880777 |
1726 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs750756174 COSM263514 CA5880776 |
1727 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs765612411 CA5880775 |
1727 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379631533 rs1175629879 |
1729 | A>T | No |
ClinGen TOPMed |
|
|
CA5880773 rs142041264 |
1731 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382153834 CA379631511 |
1732 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1734 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397409599 CA379631474 |
1737 | T>I | No |
ClinGen gnomAD |
|
|
CA379631454 rs1461292960 |
1740 | N>I | No |
ClinGen gnomAD |
|
|
rs1230579881 COSM933685 CA379631370 |
1749 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs767510523 CA5880749 |
1750 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1554898732 CA379631363 |
1751 | Y>H | No |
ClinGen Ensembl |
|
|
CA379631333 rs1351474235 |
1755 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA379631325 rs1321556017 |
1756 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA379631300 rs1290264231 |
1760 | W>* | No |
ClinGen gnomAD |
|
|
rs753449707 CA217605510 |
1763 | R>C | No |
ClinGen Ensembl |
|
|
rs1230773439 CA379631276 |
1764 | W>R | No |
ClinGen TOPMed |
|
|
CA5880745 rs762887256 |
1764 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229264860 CA379631252 |
1767 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA217605460 rs867865900 |
1769 | V>I | No |
ClinGen Ensembl |
|
|
rs1564849398 CA379631228 |
1771 | K>Q | No |
ClinGen Ensembl |
|
|
CA379631213 rs1564849389 |
1773 | Q>E | No |
ClinGen Ensembl |
|
|
rs1455157322 CA379630657 |
1776 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs905628527 CA217603697 |
1776 | Y>H | No |
ClinGen TOPMed |
|
|
CA379630655 rs1455157322 |
1776 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5880724 rs185926762 |
1777 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763294739 CA5880723 |
1778 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5880722 rs773088899 |
1779 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs764953844 CA217603663 |
1780 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379630599 rs1188609089 |
1780 | G>S | No |
ClinGen gnomAD |
|
|
rs764953844 CA5880721 |
1780 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761743495 CA5880720 |
1784 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5880719 rs776497318 |
1785 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA5880718 rs768197328 |
1787 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1788 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217603630 rs111872774 |
1789 | I>T | No |
ClinGen Ensembl |
|
|
CA5880716 rs534727061 |
1794 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379630355 rs1276273547 |
1795 | E>Q | No |
ClinGen gnomAD |
|
|
CA379630313 rs1216085056 |
1797 | V>L | No |
ClinGen gnomAD |
|
|
CA379630298 rs1296776428 |
1798 | I>L | No |
ClinGen gnomAD |
|
|
CA379630266 rs1174123344 |
1799 | P>R | No |
ClinGen TOPMed |
|
|
CA379630246 rs1564846628 |
1801 | G>S | No |
ClinGen Ensembl |
|
|
CA5880713 rs778049462 |
1802 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1803 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217603620 rs753121728 |
1803 | S>G | No |
ClinGen Ensembl |
|
|
CA217603619 rs765472480 |
1803 | S>I | No |
ClinGen gnomAD |
|
|
CA379630212 rs765472480 |
1803 | S>T | No |
ClinGen gnomAD |
|
|
CA5880711 rs748678747 |
1804 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs781601322 CA5880710 |
1807 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1809 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379630075 rs1337450194 |
1810 | T>R | No |
ClinGen TOPMed |
|
|
CA379629999 rs1362800169 |
1815 | F>L | No |
ClinGen gnomAD |
|
|
CA379629971 rs1344751054 |
1817 | D>N | No |
ClinGen TOPMed |
|
|
rs1422127668 CA379629753 |
1820 | T>I | No |
ClinGen gnomAD |
|
|
rs1410512046 CA379629736 |
1821 | S>R | No |
ClinGen gnomAD |
|
|
CA379629705 rs1404515321 |
1823 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1824 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755387643 CA5880691 |
1826 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs747527791 CA5880690 |
1826 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM292275 rs750660963 CA5880687 |
1829 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779051883 CA379629544 |
1831 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5880685 rs753527830 |
1832 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs753527830 CA5880684 |
1832 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1224025947 CA379629503 |
1833 | Q>H | No |
ClinGen gnomAD |
|
|
CA379629490 rs1349444384 |
1834 | S>N | No |
ClinGen gnomAD |
|
|
CA217602908 rs1049944235 |
1836 | Q>H | No |
ClinGen TOPMed |
|
|
rs1286899239 CA379629424 |
1838 | W>R | No |
ClinGen gnomAD |
|
|
rs760541134 CA5880682 |
1840 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs767003819 CA5880680 |
1849 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA217602888 rs1048725630 |
1849 | A>V | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q86WG5
4 regional properties for Q86WG5
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| vacuolar membrane | The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| identical protein binding | Binding to an identical protein or proteins. |
| phosphatase binding | Binding to a phosphatase. |
| phosphatase regulator activity | Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. |
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95248 | SBF1 | Myotubularin-related protein 5 | Homo sapiens (Human) | PR |
| Q13613 | MTMR1 | Myotubularin-related protein 1 | Homo sapiens (Human) | PR |
| Q13496 | MTM1 | Myotubularin | Homo sapiens (Human) | PR |
| Q13614 | MTMR2 | Myotubularin-related protein 2 | Homo sapiens (Human) | PR |
| Q96QG7 | MTMR9 | Myotubularin-related protein 9 | Homo sapiens (Human) | PR |
| Q9Y217 | MTMR6 | Myotubularin-related protein 6 | Homo sapiens (Human) | PR |
| Q9Y216 | MTMR7 | Myotubularin-related protein 7 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARLADYFIV | VGYDHEKPGS | GEGLGKIIQR | FPQKDWDDTP | FPQGIELFCQ | PGGWQLSRER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KQPTFFVVVL | TDIDSDRHYC | SCLTFYEAEI | NLQGTKKEEI | EGEAKVSGLI | QPAEVFAPKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVLVSRLYYP | EIFRACLGLI | YTVYVDSLNV | SLESLIANLC | ACLVPAAGGS | QKLFSLGAGD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RQLIQTPLHD | SLPITGTSVA | LLFQQLGIQN | VLSLFCAVLT | ENKVLFHSAS | FQRLSDACRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LESLMFPLKY | SYPYIPILPA | QLLEVLSSPT | PFIIGVHSVF | KTDVHELLDV | IIADLDGGTI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KIPECIHLSS | LPEPLLHQTQ | SALSLILHPD | LEVADHAFPP | PRTALSHSKM | LDKEVRAVFL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RLFAQLFQGY | RSCLQLIRIH | AEPVIHFHKT | AFLGQRGLVE | NDFLTKVLSG | MAFAGFVSER |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GPPYRSCDLF | DELVAFEVER | IKVEENNPVK | MIKHVRELAE | QLFKNENPNP | HMAFQKVPRP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TEGSHLRVHI | LPFPEINEAR | VQELIQENVA | KNQNAPPATR | IEKKCVVPAG | PPVVSIMDKV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TTVFNSAQRL | EVVRNCISFI | FENKILETEK | TLPAALRALK | GKAARQCLTD | ELGLHVQQNR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AILDHQQFDY | IIRMMNCTLQ | DCSSLEEYNI | AAALLPLTSA | FYRKLAPGVS | QFAYTCVQDH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PIWTNQQFWE | TTFYNAVQEQ | VRSLYLSAKE | DNHAPHLKQK | DKLPDDHYQE | KTAMDLAAEQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LRLWPTLSKS | TQQELVQHEE | STVFSQAIHF | ANLMVNLLVP | LDTSKNKLLR | TSAPGDWESG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SNSIVTNSIA | GSVAESYDTE | SGFEDSENTD | IANSVVRFIT | RFIDKVCTES | GVTQDHIKSL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| HCMIPGIVAM | HIETLEAVHR | ESRRLPPIQK | PKILRPALLP | GEEIVCEGLR | VLLDPDGREE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ATGGLLGGPQ | LLPAEGALFL | TTYRILFRGT | PHDQLVGEQT | VVRSFPIASI | TKEKKITMQN |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QLQQNMQEGL | QITSASFQLI | KVAFDEEVSP | EVVEIFKKQL | MKFRYPQSIF | STFAFAAGQT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TPQIILPKQK | EKNTSFRTFS | KTIVKGAKRA | GKMTIGRQYL | LKKKTGTIVE | ERVNRPGWNE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| DDDVSVSDES | ELPTSTTLKA | SEKSTMEQLV | EKACFRDYQR | LGLGTISGSS | SRSRPEYFRI |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TASNRMYSLC | RSYPGLLVVP | QAVQDSSLPR | VARCYRHNRL | PVVCWKNSRS | GTLLLRSGGF |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| HGKGVVGLFK | SQNSPQAAPT | SSLESSSSIE | QEKYLQALLN | AVSVHQKLRG | NSTLTVRPAF |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| ALSPGVWASL | RSSTRLISSP | TSFIDVGARL | AGKDHSASFS | NSSYLQNQLL | KRQAALYIFG |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EKSQLRNFKV | EFALNCEFVP | VEFHEIRQVK | ASFKKLMRAC | IPSTIPTDSE | VTFLKALGDS |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| EWFPQLHRIM | QLAVVVSEVL | ENGSSVLVCL | EEGWDITAQV | TSLVQLLSDP | FYRTLEGFQM |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LVEKEWLSFG | HKFSQRSSLT | LNCQGSGFAP | VFLQFLDCVH | QVHNQYPTEF | EFNLYYLKFL |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| AFHYVSNRFK | TFLLDSDYER | LEHGTLFDDK | GEKHAKKGVC | IWECIDRMHK | RSPIFFNYLY |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| SPLEIEALKP | NVNVSSLKKW | DYYIEETLST | GPSYDWMMLT | PKHFPSEDSD | LAGEAGPRSQ |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| RRTVWPCYDD | VSCTQPDALT | SLFSEIEKLE | HKLNQAPEKW | QQLWERVTVD | LKEEPRTDRS |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| QRHLSRSPGI | VSTNLPSYQK | RSLLHLPDSS | MGEEQNSSIS | PSNGVERRAA | TLYSQYTSKN |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| DENRSFEGTL | YKRGALLKGW | KPRWFVLDVT | KHQLRYYDSG | EDTSCKGHID | LAEVEMVIPA |
| 1810 | 1820 | 1830 | 1840 | ||
| GPSMGAPKHT | SDKAFFDLKT | SKRVYNFCAQ | DGQSAQQWMD | KIQSCISDA |