Q93100
PR
Gene name |
PHKB |
Protein name |
Phosphorylase b kinase regulatory subunit beta |
Names |
Phosphorylase kinase subunit beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5257 |
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 Q93100
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q93100-F1 | Predicted | AlphaFoldDB |
938 variants for Q93100
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs145047641 RCV002269337 CA8040302 RCV001121034 |
3 | G>A | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8040314 RCV001121035 rs760502380 |
10 | E>D | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002271542 RCV002292574 rs141733590 RCV000637067 CA8040316 |
13 | W>* | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002530837 RCV000585367 rs762053276 CA8040377 |
45 | L>H | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001121036 rs773528597 CA8040397 |
62 | L>P | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000625928 CA396098603 rs1555472064 |
68 | T>I | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886052020 RCV000388725 CA10648430 |
80 | Q>R | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000699958 rs754835322 CA8040410 |
82 | A>G | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs776773729 RCV002538494 RCV001297718 CA8040417 |
96 | A>G | Glycogen storage disease IXb Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_015536 RCV000014592 CA256916 rs121918022 |
118 | A>P | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) GSD9B [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1970349740 RCV001232343 |
122 | M>T | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749597903 RCV000387522 CA8040455 |
124 | G>R | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs202167409 RCV000281393 CA8040459 |
131 | R>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000675920 rs144486825 CA8040462 RCV000530542 |
134 | D>N | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762531075 RCV000397564 CA8040483 |
144 | R>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8040486 RCV002261226 RCV000816490 rs146558295 |
146 | T>A | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370363309 CA8040489 RCV001116121 RCV003106120 |
149 | L>F | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs144211929 RCV000637065 CA8040501 |
164 | Y>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001080717 CA8040504 rs151155518 RCV000435878 RCV000420480 |
167 | Y>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139738333 RCV000179287 RCV001083212 CA246558 |
173 | N>S | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1242540921 RCV000779189 |
175 | V>missing | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770841932 CA8040525 RCV001048518 |
177 | L>P | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1970580865 RCV001232344 |
182 | L>R | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000179286 RCV001117558 RCV000513729 CA203211 rs56257827 |
185 | M>I | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000662068 CA8040532 RCV000603302 RCV000675921 rs117218785 |
192 | I>V | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315979 RCV003166809 CA8040557 rs367667135 |
202 | I>V | Glycogen storage disease IXb Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1971192807 RCV001351911 |
211 | R>K | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886052021 RCV000359405 CA10637820 |
235 | H>Y | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001117560 rs748242735 CA8040590 |
238 | S>L | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8040593 rs761032231 RCV000310313 |
239 | V>A | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8040624 RCV002522850 rs137946010 RCV001048947 |
261 | S>A | Glycogen storage disease IXb Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8040632 RCV000637064 rs781197907 |
274 | R>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8040656 RCV001339516 rs558898797 |
298 | P>L | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001119157 rs143805637 CA8040655 |
298 | P>S | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs746454503 CA8040657 RCV000529597 |
305 | F>S | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000389565 RCV000675924 rs149685822 CA8040659 |
311 | V>A | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001069422 rs1197477921 |
352 | P>A | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8040689 RCV000779190 rs371296953 |
364 | E>* | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001119158 rs1972067736 |
373 | M>V | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
CA395797930 RCV001040582 rs1243574468 |
374 | I>V | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs981615352 RCV001215858 CA280224144 |
385 | V>I | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1372877925 RCV001121147 |
408 | K>Q | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
CA256914 CA395799844 rs121918021 RCV000014590 |
419 | Y>* | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141379798 RCV002543837 COSM233100 CA8040761 RCV001322070 |
429 | R>Q | skin Glycogen storage disease IXb Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM218495 rs745821795 CA8040773 RCV001121148 COSM1159128 |
451 | A>T | pancreas Glycogen storage disease IXb [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000378827 rs201217052 CA8040801 |
460 | S>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001262962 CA280235992 rs182398740 |
469 | R>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001116233 CA8040844 RCV000675927 RCV002531375 rs147021608 |
500 | I>T | Glycogen storage disease IXb Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000393619 rs758004953 RCV000778463 CA8040878 |
516 | Q>* | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs79509460 RCV002065750 CA8040884 RCV000906905 |
525 | P>H | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1973024428 RCV001116234 |
528 | I>M | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001116235 RCV003106121 CA8040911 rs139383341 RCV002556290 |
544 | N>S | Glycogen storage disease IXb Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775984009 RCV000804285 CA8040946 |
577 | P>L | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567341136 RCV000685978 CA395786085 |
583 | S>N | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000420568 rs140636792 RCV001504981 CA8040952 |
587 | M>L | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10637822 RCV000338941 rs886052022 |
587 | M>T | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1377986 RCV000347537 rs192099645 COSM1377987 COSM1377988 CA8040980 |
601 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Glycogen storage disease IXb [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001331139 CA280210655 rs530842640 |
632 | N>D | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs756158798 CA8041016 RCV001117676 |
655 | R>H | Variant assessed as Somatic; impact. Glycogen storage disease IXb [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000014588 RCV001171912 rs34667348 CA256911 |
657 | Q>* | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000675928 VAR_020857 CA8041017 rs34667348 RCV000764072 |
657 | Q>K | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1273669177 RCV002250673 CA395788445 RCV000627286 |
672 | R>* | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001082215 CA8041068 rs142381554 RCV000731361 |
692 | K>R | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8041086 RCV001117679 rs573384357 |
729 | Q>P | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201360702 RCV001048850 CA8041087 |
732 | N>S | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001119247 rs1597159344 |
749 | K>E | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8041141 rs56010117 RCV000967414 |
762 | V>I | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8041146 RCV000539195 rs16945474 VAR_006187 RCV000249169 RCV000675931 |
770 | Y>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8041147 RCV000760911 rs149244943 RCV001206878 |
776 | Q>* | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001008508 RCV002549289 rs1322527832 |
820 | E>missing | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000254147 RCV000894224 rs532057230 RCV000319718 RCV001598637 |
820 | E>missing | Glycogen phosphorylase kinase deficiency Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001086959 VAR_034056 RCV000441808 CA8041259 rs9934849 RCV000675932 |
820 | E>V | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8041278 RCV001570506 rs142281844 RCV001242958 |
865 | P>A | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM33383 VAR_036487 RCV000261198 CA8041285 rs150902092 |
877 | G>R | large_intestine Glycogen storage disease IXb a breast cancer sample; somatic mutation [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA396099890 rs1400548271 RCV000794502 |
904 | P>S | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs886052023 CA10637825 RCV000323436 |
905 | S>R | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766073838 RCV001121253 CA8041331 |
928 | R>C | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8041337 rs373243537 RCV001210416 |
931 | D>N | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8041340 RCV001307167 rs781357865 |
940 | G>A | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8041356 RCV000734473 RCV000805889 rs371541668 |
961 | K>M | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs111734407 CA034786 RCV000014591 |
975 | Y>H | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199948078 CA034971 RCV000014591 |
976 | E>* | Glycogen storage disease IXb Glycogen storage disease ixb (gsd9b) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002553069 CA8041391 RCV001040703 rs375389167 |
999 | V>I | Glycogen storage disease IXb Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1974189408 RCV001121255 |
1006 | V>I | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
rs151222947 CA396101489 RCV000802949 |
1013 | N>K | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001086758 RCV000429403 CA8041433 RCV000675933 rs12918964 |
1041 | R>W | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001121256 CA8041437 rs375008974 |
1044 | E>K | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs778012017 RCV003062800 |
1048 | Q>missing | Glycogen storage disease IXb [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746809041 CA8041481 RCV001300137 |
1059 | P>S | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764639480 CA8041494 RCV001218934 |
1087 | D>N | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8041497 rs763764574 RCV000402510 |
1089 | P>R | Glycogen storage disease IXb [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280712107 rs965005343 |
2 | A>V | No |
ClinGen TOPMed |
|
|
rs779059387 CA396102475 CA8040301 |
3 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 3 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396102481 rs1358287403 |
4 | A>E | No |
ClinGen TOPMed |
|
|
CA396102488 rs778015344 |
5 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778015344 CA8040304 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040306 rs771564861 |
6 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs747468650 CA8040305 |
6 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396102495 rs1297879413 |
7 | L>F | No |
ClinGen gnomAD |
|
|
rs748754088 CA8040308 |
8 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8040309 rs768309023 |
8 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs138071587 CA8040310 |
9 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201500282 CA8040311 |
9 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217081596 CA396102515 |
11 | V>M | No |
ClinGen gnomAD |
|
|
CA8040315 rs766281725 |
12 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA280712109 rs766281725 |
12 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396102526 rs1484706650 |
13 | W>R | No |
ClinGen gnomAD |
|
|
CA396102552 rs1182358775 |
16 | L>S | No |
ClinGen gnomAD |
|
|
rs1329038539 CA396102561 |
17 | E>D | No |
ClinGen gnomAD |
|
|
CA396102556 rs1382684907 |
17 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396102577 rs1420778214 |
20 | A>S | No |
ClinGen gnomAD |
|
|
CA396102584 rs765238295 |
21 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040318 rs765238295 |
21 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752908860 CA8040319 |
22 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA396102591 rs1222292841 |
23 | K>E | No |
ClinGen TOPMed |
|
|
CA280712110 rs774446284 |
23 | K>N | No |
ClinGen Ensembl |
|
|
CA396102594 rs1483738381 |
23 | K>R | No |
ClinGen gnomAD |
|
|
CA396097177 rs769640225 |
27 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs769640225 CA8040372 |
27 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8040371 rs745633028 |
27 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA396097221 rs1267922375 |
29 | Y>C | No |
ClinGen gnomAD |
|
|
rs1429545195 CA396097211 |
29 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs868726313 CA280720904 |
33 | K>R | No |
ClinGen Ensembl |
|
|
CA8040373 rs775255502 |
34 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3421004 COSM3421002 CA280720907 COSM3421003 rs749274158 |
34 | S>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749274158 CA8040374 |
34 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040375 rs768528505 |
36 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8040376 rs774544575 |
37 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250762046 CA396097522 |
38 | P>R | No |
ClinGen gnomAD |
|
|
CA396097577 rs1287101977 |
40 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396097596 rs1224751908 |
41 | D>A | No |
ClinGen TOPMed |
|
|
CA396097675 rs1446667592 |
43 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280720918 rs914282944 |
46 | W>C | No |
ClinGen Ensembl |
|
|
rs1239330903 CA396097864 |
47 | D>E | No |
ClinGen gnomAD |
|
|
CA396097869 rs1473166734 |
48 | K>Q | No |
ClinGen gnomAD |
|
|
rs867947452 CA280720920 |
48 | K>T | No |
ClinGen Ensembl |
|
|
rs994937007 CA280720922 |
51 | H>Y | No |
ClinGen TOPMed |
|
|
CA8040379 rs767840761 |
55 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040378 rs767840761 |
55 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396098323 rs1384551810 |
56 | V>F | No |
ClinGen gnomAD |
|
|
rs1567280651 CA396098525 |
57 | K>Q | No |
ClinGen Ensembl |
|
|
rs1430340092 CA396098545 |
59 | T>A | No |
ClinGen TOPMed |
|
|
rs748181833 CA8040395 |
60 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM557925 rs749255658 CA8040399 COSM557927 COSM557926 |
64 | Q>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA280721406 rs959026058 |
67 | T>A | No |
ClinGen TOPMed |
|
|
rs887780102 CA280721408 |
68 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8040402 rs761464946 |
69 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA396098604 rs761464946 |
69 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA396098611 rs1368868219 |
70 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA396098616 rs1346017229 |
71 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149314717 CA280721412 |
73 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753212201 CA8040403 |
73 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1202999775 CA396098642 |
75 | T>A | No |
ClinGen TOPMed |
|
|
rs761242417 CA8040404 |
76 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749953598 CA8040407 |
77 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040408 rs779641599 |
77 | G>D | No |
ClinGen ExAC |
|
|
CA8040406 rs749953598 |
77 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437102435 CA396098660 |
78 | G>D | No |
ClinGen gnomAD |
|
|
CA396098674 rs886052020 |
80 | Q>P | No |
ClinGen TOPMed |
|
|
CA396098678 rs1248197377 |
81 | K>E | No |
ClinGen gnomAD |
|
|
CA8040409 rs753655193 |
82 | A>T | No |
ClinGen ExAC |
|
|
rs1206134811 CA396098703 |
84 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1597033379 CA396098716 |
86 | D>A | No |
ClinGen Ensembl |
|
|
rs147357783 CA396098720 |
86 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396098729 rs1466722406 |
88 | L>V | No |
ClinGen gnomAD |
|
|
rs748128428 CA8040412 |
89 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA396098743 rs1461377101 |
90 | C>G | No |
ClinGen TOPMed |
|
|
rs200339326 CA8040414 |
91 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1224359588 CA396098754 |
92 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1427535646 CA396098759 |
92 | A>V | No |
ClinGen TOPMed |
|
|
CA8040415 rs747097802 |
93 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA396098772 rs1219338710 |
95 | W>R | No |
ClinGen gnomAD |
|
|
CA396098790 rs1480561527 |
97 | L>F | No |
ClinGen TOPMed |
|
|
CA396098788 rs1338701111 |
97 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396098803 rs1247254727 |
99 | L>R | No |
ClinGen gnomAD |
|
|
CA396098814 RCV001092925 rs1291816133 |
101 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs770144987 COSM1189266 COSM1189264 CA8040419 COSM1189265 |
101 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770144987 CA8040420 |
101 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759833978 CA8040418 |
101 | Y>H | No |
ClinGen ExAC |
|
|
RCV000489267 CA8040444 rs145166656 |
103 | R>* | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
COSM1719990 COSM276735 rs368975705 COSM276734 CA8040445 |
103 | R>Q | Variant assessed as Somatic; 0.0 impact. NS large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765020871 CA8040446 |
104 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148782229 CA396098942 |
107 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8040448 rs758324636 |
107 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396098940 rs758324636 |
107 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004472405 CA280722060 |
109 | G>V | No |
ClinGen Ensembl |
|
|
rs1315742130 CA396098965 |
111 | T>S | No |
ClinGen gnomAD |
|
|
rs377750531 CA8040451 CA280722063 |
112 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8040450 rs751453981 |
112 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312712270 CA396098974 |
113 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396098975 rs1312712270 |
113 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8040452 rs781150371 |
115 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA396099016 rs1243176483 |
119 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8040454 rs142404586 |
119 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 121 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280722071 rs775087696 |
122 | M>I | No |
ClinGen Ensembl |
|
|
rs1461280252 CA396099036 |
122 | M>V | No |
ClinGen gnomAD |
|
|
CA396099056 rs1382592280 |
125 | I>V | No |
ClinGen gnomAD |
|
|
rs151291928 CA8040456 |
127 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280722076 rs907182345 |
128 | C>R | No |
ClinGen TOPMed |
|
|
CA8040458 rs774882825 |
129 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs377351270 CA8040460 |
131 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA396099110 rs1451877078 |
133 | A>T | No |
ClinGen gnomAD |
|
|
CA8040463 rs764969440 |
134 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8040464 COSM3957587 COSM3957586 rs775293082 COSM3957588 |
135 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA396099298 rs745316766 |
136 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8040480 rs745316766 |
136 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA396099303 rs1204419073 |
137 | Q>* | No |
ClinGen gnomAD |
|
|
rs769430464 CA8040481 |
139 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA280724131 rs966174255 |
139 | F>L | No |
ClinGen TOPMed |
|
|
CA8040482 rs775239930 |
140 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1200492603 CA396099337 |
141 | Q>R | No |
ClinGen gnomAD |
|
|
CA8040484 rs768399607 |
144 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774015833 CA8040485 |
145 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA396099370 rs1256857045 |
147 | T>A | No |
ClinGen TOPMed |
|
|
rs1597044068 CA396099374 |
147 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 147 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396099376 rs1352609175 |
148 | C>R | No |
ClinGen gnomAD |
|
|
CA8040488 rs750368244 |
148 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040491 rs754000385 |
150 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755124053 CA8040492 |
152 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040494 rs752988297 |
154 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779261772 CA8040493 |
154 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758802762 CA8040495 |
156 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA8040496 rs758802762 |
156 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA280724154 rs759027106 |
157 | T>A | No |
ClinGen Ensembl |
|
|
CA8040497 rs141208535 |
157 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396099435 rs1291446374 |
158 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779685840 CA8040499 |
160 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs774068671 CA396099496 |
166 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040503 rs761451876 |
166 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040502 rs774068671 |
166 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446296864 CA396099523 |
168 | G>S | No |
ClinGen gnomAD |
|
|
CA396099537 rs1164006596 |
169 | H>L | No |
ClinGen gnomAD |
|
|
CA396099554 rs1597044174 |
170 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 171 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773086369 CA8040505 |
171 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1408273685 CA396100029 |
172 | I>L | No |
ClinGen gnomAD |
|
|
COSM1377966 CA8040524 COSM1377968 rs544216921 COSM1377967 |
175 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1407626626 CA396100052 |
176 | S>P | No |
ClinGen gnomAD |
|
|
rs770841932 CA8040526 |
177 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396100059 rs1567287756 |
177 | L>V | No |
ClinGen Ensembl |
|
|
CA280724806 rs932335085 |
179 | L>I | No |
ClinGen Ensembl |
|
|
rs1336646506 CA396100073 |
179 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA396100085 rs1381110962 |
181 | Y>C | No |
ClinGen gnomAD |
|
|
rs1280432847 CA396100091 |
182 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8040529 rs775523768 |
183 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1434597094 CA396100097 |
183 | V>L | No |
ClinGen TOPMed |
|
|
CA396100108 rs1187800503 |
184 | E>K | No |
ClinGen gnomAD |
|
|
CA396100116 rs1265126249 |
184 | E>V | No |
ClinGen gnomAD |
|
|
rs1236475106 CA396100124 |
185 | M>V | No |
ClinGen gnomAD |
|
|
rs201773315 CA280724816 |
189 | G>E | No |
ClinGen 1000Genomes |
|
|
rs1156464859 CA396100252 |
194 | Y>C | No |
ClinGen gnomAD |
|
|
rs757713533 CA8040533 |
197 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767949904 CA8040556 |
200 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767949904 CA8040555 |
200 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764531985 CA280191687 CA8040558 |
204 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA395787286 rs1299349498 |
209 | V>M | No |
ClinGen gnomAD |
|
|
CA395787313 rs1200464308 |
210 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000497816 rs1229604720 CA395787364 |
214 | R>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA280191738 rs148238775 |
215 | V>E | No |
ClinGen ESP gnomAD |
|
|
CA395787398 rs1202767073 |
216 | P>L | No |
ClinGen gnomAD |
|
|
CA8040560 rs371523617 |
216 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395787434 rs1293620662 |
219 | G>S | No |
ClinGen gnomAD |
|
|
rs1490417658 CA395787445 |
220 | V>I | No |
ClinGen gnomAD |
|
|
CA8040561 rs777339972 |
221 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA280191760 rs866677615 |
222 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA395787475 rs866677615 |
222 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA395787490 rs1186316633 |
223 | R>G | No |
ClinGen gnomAD |
|
|
rs967630526 CA280191765 |
225 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA280191771 rs762504730 |
226 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1193202835 CA395787555 |
227 | Y>C | No |
ClinGen gnomAD |
|
|
CA8040565 rs745688044 |
229 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA395787617 rs1424305795 |
231 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1291993207 CA395787630 |
232 | T>A | No |
ClinGen gnomAD |
|
|
CA395787638 rs1182102906 |
232 | T>I | No |
ClinGen gnomAD |
|
|
rs1317647341 CA395787666 |
234 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017912876 CA280191794 |
235 | H>P | No |
ClinGen TOPMed |
|
|
rs1017912876 CA395787680 |
235 | H>R | No |
ClinGen TOPMed |
|
| rs768892939 | 236 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201829990 COSM1377970 CA8040568 COSM1377971 COSM1377969 |
236 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395787687 rs1412489515 |
236 | S>T | No |
ClinGen TOPMed |
|
|
CA395793336 rs748242735 |
238 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395793343 rs1177160117 |
239 | V>I | No |
ClinGen gnomAD |
|
|
rs777073939 CA8040595 |
240 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM970853 COSM970854 rs777073939 COSM970855 CA395793360 |
240 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs147426858 CA8040594 |
240 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8040596 rs190737988 |
243 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8040597 rs190737988 |
243 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8040598 rs773845023 |
245 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395793433 rs1204830713 |
247 | E>K | No |
ClinGen gnomAD |
|
|
rs1249060365 CA395793456 |
248 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8040601 rs373920188 |
252 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8040602 rs755893390 |
253 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA395793589 rs1208610771 |
258 | Q>R | No |
ClinGen gnomAD |
|
|
CA395794995 rs1211584169 |
261 | S>W | No |
ClinGen TOPMed |
|
|
CA395795013 rs1277579547 |
262 | W>* | No |
ClinGen TOPMed |
|
|
rs758454890 CA8040626 |
262 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8040627 rs777691543 |
268 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8040629 rs757461192 |
270 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040631 rs147127433 |
273 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280219602 COSM970861 rs776018181 COSM970859 COSM970860 |
274 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776018181 CA8040633 |
274 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs45514591 CA280219619 |
277 | Q>K | No |
ClinGen Ensembl |
|
|
CA395795397 rs1363296808 |
279 | L>* | No |
ClinGen gnomAD |
|
|
rs1363296808 CA395795399 |
279 | L>S | No |
ClinGen gnomAD |
|
|
CA8040635 rs769249736 |
280 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA395795447 rs1415936620 |
281 | S>L | No |
ClinGen TOPMed |
|
|
CA395795459 rs1567316648 |
282 | L>P | No |
ClinGen Ensembl |
|
|
rs139519773 CA8040636 |
283 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760319542 CA8040637 |
284 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8040638 rs770651486 |
288 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8040639 rs776429209 |
290 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1456264804 CA395795699 |
293 | D>A | No |
ClinGen gnomAD |
|
|
rs1156238752 CA395795714 |
294 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA395795721 rs1432322452 |
295 | A>P | No |
ClinGen TOPMed |
|
|
CA280220313 rs767495541 |
297 | L>F | No |
ClinGen Ensembl |
|
|
rs558898797 CA395795742 |
298 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1444719125 COSM3361773 CA395795746 COSM3361775 COSM3361774 |
299 | C>Y | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1019001691 CA280220354 |
300 | I>T | No |
ClinGen Ensembl |
|
|
CA395795752 rs1449068341 |
300 | I>V | No |
ClinGen gnomAD |
|
|
rs1280344347 CA395795760 |
301 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1280344347 CA395795761 |
301 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1350039791 CA395795774 |
303 | P>A | No |
ClinGen gnomAD |
|
|
CA280220359 rs867659461 |
306 | A>S | No |
ClinGen gnomAD |
|
|
CA395795802 rs1188008563 |
306 | A>V | No |
ClinGen TOPMed |
|
|
rs942136474 CA280220390 |
308 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1200933342 CA395795850 |
309 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769525884 CA8040661 |
314 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040662 rs775139159 CA8040663 |
314 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395795932 rs769525884 |
314 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395795940 rs1230727136 |
315 | Q>* | No |
ClinGen TOPMed |
|
|
CA395795950 rs1472035734 |
315 | Q>R | No |
ClinGen gnomAD |
|
|
CA395795963 rs144802484 |
316 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395795966 rs1430757166 |
316 | T>K | No |
ClinGen gnomAD |
|
|
rs144802484 CA8040664 |
316 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395795976 rs1478664293 |
317 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1172500051 CA395796016 |
319 | K>R | No |
ClinGen gnomAD |
|
|
CA8040665 rs544580152 |
320 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372411605 CA8040666 |
321 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs919372100 CA280220460 |
329 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8040667 rs767565970 |
332 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8040668 rs201074312 |
332 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395796176 rs201074312 |
332 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395796207 rs1305078135 |
336 | D>E | No |
ClinGen gnomAD |
|
|
rs780382218 CA8040670 |
341 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs375710008 CA8040672 |
344 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482549781 CA395796265 |
345 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395796272 rs1455480871 |
346 | N>S | No |
ClinGen TOPMed |
|
|
CA395796281 rs1597106451 |
347 | R>S | No |
ClinGen Ensembl |
|
|
CA395796290 rs1165641214 |
348 | C>W | No |
ClinGen TOPMed |
|
|
rs748684773 CA8040674 |
350 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1451660850 CA395796321 |
351 | K>R | No |
ClinGen gnomAD |
|
|
CA395796335 rs1197477921 |
352 | P>S | No |
ClinGen gnomAD |
|
|
CA395796380 rs1597106471 |
355 | I>V | No |
ClinGen Ensembl |
|
|
rs1476647478 CA395796410 |
356 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280223559 rs954127087 |
360 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8040687 rs572522941 |
361 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766445814 CA8040688 |
362 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1457554672 CA395797690 |
363 | C>R | No |
ClinGen gnomAD |
|
|
CA395797717 rs371296953 |
364 | E>K | Variant assessed as Somatic; impact. Glycogen storage disease ixb (gsd9b) [NCI-TCGA, Ensembl] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755250926 CA8040690 |
366 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs765672351 CA8040691 |
367 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395797846 rs1432639799 |
370 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs541515150 CA8040692 |
371 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1265403334 CA395797890 |
372 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758968989 CA8040693 |
372 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745316281 CA8040695 |
374 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs78667243 CA8040694 |
374 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395797963 rs1223036335 |
376 | G>* | No |
ClinGen TOPMed |
|
| TCGA novel | 378 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395798209 rs1473018146 |
379 | R>K | No |
ClinGen gnomAD |
|
|
rs1181578076 CA395798233 |
380 | G>S | No |
ClinGen gnomAD |
|
|
rs1471607814 CA395798304 |
382 | P>L | No |
ClinGen gnomAD |
|
|
rs148556721 CA8040718 |
383 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8040719 rs148556721 |
383 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378077788 CA395798422 |
387 | E>K | No |
ClinGen gnomAD |
|
|
rs755527443 CA8040721 |
393 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs377612083 CA8040722 |
393 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1400814314 CA395798633 |
394 | P>A | No |
ClinGen TOPMed |
|
|
CA395798649 rs1410036268 |
394 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 395 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748819123 CA8040723 |
396 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA8040724 rs555742738 |
397 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs908672735 CA280224172 |
399 | T>A | No |
ClinGen Ensembl |
|
|
CA8040725 rs778554476 |
399 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs778554476 CA8040726 |
399 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs372083810 CA8040727 |
400 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753006574 CA8040750 |
402 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395799641 rs1191661371 |
404 | P>L | No |
ClinGen gnomAD |
|
|
rs777591693 CA8040751 |
405 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA280225956 rs934401270 |
406 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395799682 rs1372877925 |
408 | K>E | Glycogen storage disease ixb (gsd9b) [Ensembl] | No |
ClinGen TOPMed |
|
CA8040753 rs376369267 |
408 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746844592 CA8040752 |
408 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs781005251 CA8040754 |
414 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs745889094 CA8040755 |
415 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA280226007 rs1052587430 |
417 | V>I | No |
ClinGen Ensembl |
|
|
CA8040756 rs770021026 |
418 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8040757 rs775802488 |
419 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA395799847 rs1172904708 |
420 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 421 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8040758 rs769068970 |
423 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295800142 CA395799876 |
424 | P>T | No |
ClinGen gnomAD |
|
|
rs774768331 CA8040759 |
425 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395799890 rs1257805287 |
426 | S>N | No |
ClinGen TOPMed |
|
|
CA280226054 rs376806625 |
427 | Q>K | No |
ClinGen ESP |
|
|
rs563345848 CA8040760 |
429 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141379798 CA395799912 |
429 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395799944 rs1567320588 |
434 | C>R | No |
ClinGen Ensembl |
|
|
rs750928495 CA8040762 |
436 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143602657 CA8040763 |
436 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143602657 CA395799960 |
436 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750928495 CA395799957 |
436 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040766 rs140509147 |
440 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8040767 rs758039678 |
441 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA280226131 rs962121907 |
442 | L>F | No |
ClinGen Ensembl |
|
|
rs373548084 CA8040770 |
445 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395800057 rs1160689975 |
446 | A>T | No |
ClinGen gnomAD |
|
|
CA395800066 rs1390054075 |
446 | A>V | No |
ClinGen gnomAD |
|
|
CA395800081 rs1457158565 |
448 | Y>H | No |
ClinGen gnomAD |
|
|
CA395800096 rs1319015817 |
449 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757003045 CA8040771 |
450 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA395800128 rs1377162432 |
451 | A>V | No |
ClinGen gnomAD |
|
|
rs1312113282 CA395800149 |
453 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 453 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8040799 rs780154582 |
457 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918762902 CA280235980 |
459 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1402292054 CA395802560 |
459 | I>V | No |
ClinGen TOPMed |
|
|
rs1048627089 CA395802602 |
460 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA280235984 rs1048627089 |
460 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs150683838 CA8040802 |
463 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395802645 rs150683838 |
463 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8040803 rs748299785 |
463 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1567326518 CA395802672 |
464 | I>N | No |
ClinGen Ensembl |
|
|
CA395802716 rs1567326525 |
467 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 468 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182398740 CA8040805 |
469 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747429835 CA8040806 |
469 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182398740 CA395802744 |
469 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8040807 rs771367256 |
470 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395802794 rs1438020253 |
471 | V>I | No |
ClinGen TOPMed |
|
|
CA8040808 rs777123350 |
472 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8040810 rs763533891 |
474 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA280236014 rs139904234 |
475 | D>G | No |
ClinGen 1000Genomes |
|
|
rs773959240 CA8040811 |
477 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761339361 CA8040812 COSM1640484 COSM1640486 COSM1640485 |
477 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs570800497 CA8040814 |
479 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA280236050 rs973554433 |
481 | M>T | No |
ClinGen TOPMed |
|
|
CA8040818 rs754996242 |
484 | S>F | No |
ClinGen ExAC |
|
|
rs778830883 CA8040819 |
485 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435899360 CA395803135 |
486 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395803138 rs1193599125 |
486 | Q>R | No |
ClinGen gnomAD |
|
|
CA395784241 rs1567337868 |
487 | G>D | No |
ClinGen Ensembl |
|
|
rs753206786 CA280204482 |
487 | G>S | No |
ClinGen Ensembl |
|
|
rs752659134 CA8040836 |
488 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA8040837 rs758506128 |
489 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8040838 rs777928534 |
489 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8040839 rs751798952 |
490 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1305765069 CA395784282 |
494 | V>I | No |
ClinGen gnomAD |
|
|
rs1223659521 CA395784292 |
495 | V>A | No |
ClinGen gnomAD |
|
|
CA280204499 rs907610082 |
498 | A>T | No |
ClinGen TOPMed |
|
|
CA8040841 rs367653680 |
498 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395784319 rs1597143563 |
500 | I>L | No |
ClinGen Ensembl |
|
|
rs1321028146 CA395784325 |
501 | A>T | No |
ClinGen gnomAD |
|
|
rs111301209 CA395784360 |
504 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8040845 rs111301209 |
504 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8040872 rs138204583 |
507 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395784477 rs1315607819 |
508 | V>A | No |
ClinGen gnomAD |
|
|
CA395784471 rs1257551855 |
508 | V>F | No |
ClinGen TOPMed |
|
|
CA622195337 rs1235924097 |
512 | T>* | No |
ClinGen gnomAD |
|
|
rs1330299538 CA395784532 |
512 | T>I | No |
ClinGen TOPMed |
|
|
rs143884635 CA8040875 |
513 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395784541 rs143884635 |
513 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141224055 CA8040877 |
515 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996846426 CA280204984 |
516 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8040879 rs144159196 |
519 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395784632 rs1249772080 |
520 | P>S | No |
ClinGen gnomAD |
|
|
CA8040880 rs775194158 |
521 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1028416936 CA280204994 |
521 | Q>R | No |
ClinGen Ensembl |
|
|
CA8040883 rs774398701 |
523 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8040882 rs764085408 |
523 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA280204997 rs1008081391 |
524 | E>G | No |
ClinGen Ensembl |
|
|
rs767596341 CA8040885 |
529 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473832602 CA395784731 |
531 | Q>* | No |
ClinGen TOPMed |
|
|
CA395784740 rs1409932848 |
532 | Q>E | No |
ClinGen gnomAD |
|
|
rs750680637 CA8040886 |
533 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA280205018 rs1012235008 |
534 | L>F | No |
ClinGen TOPMed |
|
|
rs1302496903 CA395784759 |
535 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1232478820 CA395784770 |
536 | K>I | No |
ClinGen gnomAD |
|
|
rs1281078344 CA395784765 |
536 | K>Q | No |
ClinGen TOPMed |
|
|
rs1273765929 CA395785114 |
537 | A>T | No |
ClinGen gnomAD |
|
|
rs1467935587 CA395785122 |
538 | Y>H | No |
ClinGen gnomAD |
|
|
CA8040910 rs765796760 |
539 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395785149 rs1377820011 |
540 | Q>P | No |
ClinGen TOPMed |
|
|
CA395785181 rs1185561392 |
542 | G>V | No |
ClinGen gnomAD |
|
|
CA8040912 rs758873075 |
546 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415206474 CA395785234 |
546 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 547 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280208863 rs890608375 |
548 | G>E | No |
ClinGen Ensembl |
|
|
rs1461357901 CA395785298 |
551 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395785329 rs1460309537 |
554 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1460309537 CA395785331 |
554 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8040916 rs755777778 |
556 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA395785350 rs1430382591 |
556 | P>S | No |
ClinGen gnomAD |
|
|
RCV000513624 rs1411474273 CA395785354 |
557 | I>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1597149459 CA395785373 |
559 | C>W | No |
ClinGen Ensembl |
|
|
rs1597149465 CA395785379 |
560 | L>P | No |
ClinGen Ensembl |
|
|
rs561190961 CA8040917 CA395785381 |
561 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395785395 rs1292721679 |
563 | S>* | No |
ClinGen gnomAD |
|
|
rs375108693 CA280208921 |
564 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 565 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1377985 CA8040939 rs771991962 COSM1377984 COSM1377983 |
567 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs574200588 CA8040940 |
567 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 568 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904750078 CA280209281 |
568 | I>V | No |
ClinGen gnomAD |
|
|
CA395785805 rs1354810618 |
569 | L>P | No |
ClinGen gnomAD |
|
|
rs747074902 CA8040941 |
569 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs34456828 CA280209293 |
570 | G>E | No |
ClinGen Ensembl |
|
|
CA8040942 rs770934710 |
571 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA8040943 rs776897386 |
572 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs775984009 CA395785962 |
577 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395785985 rs1224596525 |
578 | I>T | No |
ClinGen TOPMed |
|
|
CA8040948 rs202127217 |
581 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8040949 rs774750600 |
581 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA8040951 rs765843664 |
583 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1597149876 CA395786140 |
585 | F>L | No |
ClinGen Ensembl |
|
|
CA8040953 rs140636792 |
587 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764887245 CA395786194 |
588 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs764887245 CA8040954 |
588 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA395786322 rs1193354719 |
595 | I>M | No |
ClinGen gnomAD |
|
|
rs911309723 CA280209347 |
596 | D>H | No |
ClinGen TOPMed |
|
|
rs1451535875 CA395786349 |
598 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395786438 rs1362623632 |
600 | N>D | No |
ClinGen TOPMed |
|
|
rs192099645 CA8040981 |
601 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371708094 CA280210435 |
603 | Q>L | No |
ClinGen ESP TOPMed |
|
|
rs183496853 CA8040985 |
608 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749441143 CA8040984 |
608 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs748562398 CA8040987 |
612 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1189750988 CA395786618 |
612 | H>R | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8040988 rs369109156 |
614 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8040990 rs140190371 |
614 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369109156 CA8040989 |
614 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs890991790 CA280210482 |
615 | P>L | No |
ClinGen gnomAD |
|
|
CA8040992 rs775101803 |
616 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269246470 CA395786669 |
617 | F>L | No |
ClinGen TOPMed |
|
|
rs1207819185 CA395786699 |
619 | V>F | No |
ClinGen TOPMed |
|
|
CA395786708 rs1383853697 |
620 | L>V | No |
ClinGen gnomAD |
|
|
CA8040994 rs143871324 |
621 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1679067 COSM1679065 COSM1679066 rs1042750036 CA280210509 |
621 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8040996 rs369997789 |
622 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs543402649 CA8040995 |
622 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319200090 CA395786751 |
624 | D>N | No |
ClinGen gnomAD |
|
|
rs1233602044 CA395786782 |
626 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 627 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771531628 CA8041008 |
630 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8041007 rs747479623 |
630 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762534351 CA8041010 |
634 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041009 rs145723243 |
634 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768125861 CA8041011 |
636 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 639 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395786961 rs1202707665 |
639 | A>S | No |
ClinGen TOPMed |
|
|
rs1279081023 CA395786971 |
640 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA280210675 rs978947332 |
642 | K>R | No |
ClinGen TOPMed |
|
|
CA395787009 rs1349199129 |
643 | K>N | No |
ClinGen TOPMed |
|
| rs35494330 | 644 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395787027 rs1279413322 |
646 | I>T | No |
ClinGen TOPMed |
|
|
rs761650842 CA8041013 |
647 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM140093 CA8041015 COSM140094 rs750311549 |
655 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395787086 rs750311549 |
655 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 657 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394191359 CA395788302 |
658 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 658 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395788313 rs1284786647 |
660 | I>V | No |
ClinGen TOPMed |
|
|
rs764311039 CA8041041 |
661 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 663 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757671292 CA8041043 |
666 | E>D | No |
ClinGen ExAC |
|
|
rs781500982 CA8041044 |
667 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs376951504 CA8041045 |
668 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756619242 CA8041046 |
668 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 670 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280216539 rs539291833 |
672 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs755903969 CA280216543 |
673 | I>M | No |
ClinGen gnomAD |
|
|
CA395788506 rs1168478594 |
676 | T>I | No |
ClinGen TOPMed |
|
|
CA395788532 rs1597158344 |
678 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 680 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041058 rs763022548 |
681 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1486370110 CA395788623 |
682 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 683 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041063 rs151061605 |
683 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA395788664 rs1567345529 |
685 | F>L | No |
ClinGen Ensembl |
|
|
CA8041065 rs749576749 |
686 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1179387958 CA395788740 |
690 | P>L | No |
ClinGen gnomAD |
|
|
CA280216639 rs1012724142 |
690 | P>T | No |
ClinGen TOPMed |
|
|
rs756587939 CA8041067 |
691 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs939437583 CA280216658 |
693 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA395788775 rs1340771051 |
696 | V>I | No |
ClinGen gnomAD |
|
|
CA280216663 rs759216965 |
698 | R>Q | No |
ClinGen gnomAD |
|
|
CA8041070 rs374998590 |
698 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395788807 rs1445732246 |
700 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs146985588 CA8041072 |
705 | A>V | No |
ClinGen ESP ExAC |
|
|
CA395788843 rs1240745537 |
706 | P>S | No |
ClinGen Ensembl |
|
|
CA8041073 rs770560517 |
707 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781024049 CA8041074 |
708 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1306672795 CA395788855 |
708 | L>V | No |
ClinGen gnomAD |
|
|
rs745659494 CA8041075 |
709 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769649012 CA8041076 |
711 | Q>E | No |
ClinGen ExAC |
|
|
rs775434978 CA8041077 |
712 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233892507 CA395788901 |
715 | N>S | No |
ClinGen gnomAD |
|
|
CA395788900 rs1233892507 |
715 | N>T | No |
ClinGen gnomAD |
|
|
CA395788906 rs1469972512 |
716 | I>V | No |
ClinGen gnomAD |
|
|
rs1015757800 CA280216684 |
717 | S>R | No |
ClinGen TOPMed |
|
|
rs1177104908 CA395788928 |
719 | W>R | No |
ClinGen gnomAD |
|
|
CA395788937 rs1170319567 |
720 | K>E | No |
ClinGen gnomAD |
|
|
CA280216686 rs965077672 |
720 | K>M | No |
ClinGen TOPMed |
|
|
CA8041080 rs774334485 CA395788941 |
720 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041081 rs368503018 |
721 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs923531715 CA280216689 |
723 | P>H | No |
ClinGen TOPMed |
|
|
CA8041084 CA8041083 rs17853186 |
725 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1173170958 CA395788973 |
725 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375361185 CA8041085 |
726 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280216727 rs56179184 |
728 | L>V | No |
ClinGen Ensembl |
|
|
CA395789007 rs1455152952 |
730 | K>N | No |
ClinGen TOPMed |
|
|
CA280216749 rs929260641 |
731 | L>P | No |
ClinGen Ensembl |
|
|
rs749138549 CA8041112 |
733 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8041111 rs779818494 |
733 | D>N | No |
ClinGen ExAC |
|
|
rs369776235 CA8041114 |
735 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8041115 rs766015094 |
736 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs200500255 CA280217230 |
736 | C>R | No |
ClinGen Ensembl |
|
|
rs1044322686 CA280217255 |
740 | Q>* | No |
ClinGen Ensembl |
|
|
CA395789242 rs1335923768 |
740 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs904013226 CA280217265 |
746 | I>V | No |
ClinGen Ensembl |
|
|
CA8041117 rs773384573 |
748 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA395789292 rs1597159344 |
749 | K>Q | No |
ClinGen Ensembl |
|
|
CA395789324 rs1476847006 |
753 | P>R | No |
ClinGen gnomAD |
|
|
CA8041119 rs771342037 |
753 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395789328 rs777073299 |
754 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8041120 rs777073299 |
754 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA395789340 rs1272612708 |
756 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1419889793 CA395789348 |
757 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1419889793 CA395789347 |
757 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 758 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461787148 CA395789365 |
759 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8041138 rs566479402 |
760 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395789370 rs1388179531 |
760 | G>R | No |
ClinGen gnomAD |
|
|
CA395789371 rs1388179531 |
760 | G>S | No |
ClinGen gnomAD |
|
|
CA8041139 rs770030450 |
761 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311130630 CA395789390 |
761 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1311130630 CA395789389 |
761 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395789392 rs56010117 |
762 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395789397 rs1280265316 |
763 | S>P | No |
ClinGen TOPMed |
|
|
rs764719579 CA8041142 |
764 | D>H | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 767 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041144 rs760210108 |
768 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8041145 rs765968570 |
769 | V>D | No |
ClinGen ExAC |
|
|
rs1281119325 CA395789452 |
771 | R>K | No |
ClinGen gnomAD |
|
|
rs1485993083 CA395789464 |
773 | A>S | No |
ClinGen gnomAD |
|
|
rs376460568 CA280218354 |
774 | G>R | No |
ClinGen ESP |
|
|
CA395789483 rs149244943 |
776 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395789490 COSM1609352 COSM1609351 rs1420687967 COSM1609353 |
777 | K>Q | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 778 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395789498 rs1379357043 |
778 | L>V | No |
ClinGen gnomAD |
|
|
rs991546703 CA280219144 |
781 | A>T | No |
ClinGen gnomAD |
|
|
CA8041168 rs759094998 |
781 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041171 rs762841465 |
782 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA280219152 rs143421326 |
783 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA8041173 rs199709286 |
783 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257269407 CA8041174 |
784 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs781419588 CA8041177 |
785 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8041178 rs781419588 |
785 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1487936774 CA395789564 |
786 | A>T | No |
ClinGen gnomAD |
|
|
CA395789576 rs1485645875 |
787 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs780329020 CA8041180 |
789 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041181 rs749566044 |
789 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768985499 CA8041182 |
790 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs779288751 CA8041183 |
790 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 793 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041185 rs772623205 |
794 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8041186 rs776058296 |
796 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280219173 rs770258511 |
797 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 798 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041187 rs759086628 |
800 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395789743 rs1349561017 |
800 | I>V | No |
ClinGen gnomAD |
|
|
rs539385114 CA8041188 |
802 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395789770 rs1362752938 |
802 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs775234540 CA8041189 |
806 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763953566 CA8041192 |
809 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1295497860 CA395790629 |
810 | V>L | No |
ClinGen gnomAD |
|
|
rs1348701299 CA395790644 |
811 | T>I | No |
ClinGen TOPMed |
|
|
CA395790648 rs1209487220 |
812 | L>V | No |
ClinGen gnomAD |
|
|
CA8041256 rs777565101 |
813 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770859279 CA395790693 |
817 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280221396 rs987026344 |
817 | H>R | No |
ClinGen TOPMed |
|
|
CA8041257 rs770859279 |
817 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395790718 rs1191304771 |
819 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs9934849 CA395790736 |
820 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs945657281 CA280221428 |
822 | I>F | No |
ClinGen Ensembl |
|
|
rs759515147 CA8041260 |
825 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395790810 rs1177339471 |
827 | S>F | No |
ClinGen gnomAD |
|
|
CA395790803 rs1388068539 |
827 | S>P | No |
ClinGen gnomAD |
|
|
rs1421044446 CA395790814 |
828 | P>A | No |
ClinGen gnomAD |
|
|
rs775618622 CA8041262 |
830 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 833 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041263 rs763225615 |
834 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1015205118 CA280221471 |
836 | Y>C | No |
ClinGen TOPMed |
|
|
rs764238620 CA8041264 |
837 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1341452744 CA395790960 |
840 | N>D | No |
ClinGen gnomAD |
|
|
rs1244473872 CA395790988 |
841 | T>I | No |
ClinGen gnomAD |
|
|
CA8041266 rs762116229 |
845 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041267 rs768021122 |
846 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041269 COSM970899 COSM970900 rs374731360 COSM970898 |
847 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1186551956 CA395791183 |
852 | E>* | No |
ClinGen gnomAD |
|
|
rs757998722 CA8041272 |
852 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA395791199 rs1372720683 |
853 | L>V | No |
ClinGen gnomAD |
|
|
rs200492495 CA280221591 |
854 | V>A | No |
ClinGen 1000Genomes |
|
|
CA395791219 rs200492495 |
854 | V>D | No |
ClinGen 1000Genomes |
|
|
rs1567349168 CA395791231 |
855 | I>T | No |
ClinGen Ensembl |
|
|
CA8041273 rs777319918 |
856 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA395791275 rs1305148205 |
858 | G>A | No |
ClinGen gnomAD |
|
|
CA395791269 rs1417249185 |
858 | G>C | No |
ClinGen gnomAD |
|
|
CA395791300 rs1403478006 |
859 | W>C | No |
ClinGen gnomAD |
|
|
CA280221597 rs770607249 |
860 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA395791309 rs1332599193 |
860 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8041275 rs770607249 |
860 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781008493 CA8041276 |
861 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 862 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395791341 rs1303721620 |
862 | S>P | No |
ClinGen gnomAD |
|
|
rs1308714279 CA395791361 |
863 | N>K | No |
ClinGen gnomAD |
|
|
rs745805941 CA8041277 |
863 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280221622 rs142281844 |
865 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8041279 rs142281844 |
865 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395791403 rs1235451520 |
866 | E>K | No |
ClinGen gnomAD |
|
|
rs1323672608 CA395791428 |
867 | L>* | No |
ClinGen TOPMed |
|
|
rs1323672608 CA395791427 |
867 | L>S | No |
ClinGen TOPMed |
|
| VAR_036486 | 867 | L>V | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA395791503 rs1257739396 |
872 | L>M | No |
ClinGen gnomAD |
|
|
CA8041280 rs749334039 |
874 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8041281 rs768885733 |
875 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8041282 rs774459319 |
875 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8041283 rs545345880 |
876 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA280738726 rs1000274245 |
878 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA396099720 rs1294282853 |
878 | W>R | No |
ClinGen gnomAD |
|
|
CA8041303 rs772434850 |
880 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA396099750 rs761149812 |
882 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8041304 rs773643337 |
882 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8041305 rs761149812 |
882 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396099755 rs1281849439 |
883 | M>T | No |
ClinGen TOPMed |
|
|
rs1054889722 CA280738727 |
883 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs945030281 CA280738728 |
884 | E>K | No |
ClinGen Ensembl |
|
|
CA396099771 rs1219056913 |
885 | Y>C | No |
ClinGen gnomAD |
|
|
rs1277313847 CA396099782 |
886 | E>D | No |
ClinGen gnomAD |
|
|
rs891812862 CA280738729 |
887 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1010165219 CA280738730 |
888 | Q>P | No |
ClinGen TOPMed |
|
|
rs555108367 CA8041306 |
890 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8041307 rs139277922 |
890 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396099804 rs139277922 |
890 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139277922 CA8041308 |
890 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396099808 rs1297018928 |
891 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 892 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149983469 CA8041310 |
892 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8041313 rs750180335 |
893 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs767165222 CA8041312 |
893 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755927182 CA8041314 |
895 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749150991 CA8041316 |
898 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA396099860 rs1456502797 |
899 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA396099863 rs755000456 |
900 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA396099866 rs1597183681 |
900 | Y>F | No |
ClinGen Ensembl |
|
|
rs755000456 CA8041317 |
900 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA8041319 RCV000760570 rs748262135 |
909 | Q>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA396099933 rs1405537952 |
910 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 914 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396099956 rs1359641039 |
914 | I>V | No |
ClinGen gnomAD |
|
|
rs1229768751 CA396099978 |
917 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1313048258 CA396099994 |
919 | Q>H | No |
ClinGen gnomAD |
|
|
rs1597183714 CA396099988 |
919 | Q>K | No |
ClinGen Ensembl |
|
|
rs772377764 CA396100003 |
920 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1320707563 CA396099998 |
920 | N>Y | No |
ClinGen gnomAD |
|
|
rs1378068034 CA396100376 |
924 | W>S | No |
ClinGen gnomAD |
|
|
CA280739150 rs1057156373 |
925 | L>P | No |
ClinGen Ensembl |
|
|
CA8041332 rs556303193 |
928 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556303193 CA8041333 |
928 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556303193 CA396100402 |
928 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201377441 CA8041335 |
930 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778939727 CA8041334 |
930 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1211352790 CA396100422 |
931 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8041338 rs373243537 |
931 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202819284 CA396100428 |
932 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 935 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280739152 rs1036116339 |
935 | N>Y | No |
ClinGen TOPMed |
|
|
CA396100515 rs1460203480 |
939 | T>A | No |
ClinGen gnomAD |
|
|
rs929325638 CA280739153 |
940 | G>R | No |
ClinGen gnomAD |
|
|
rs929325638 CA396100529 |
940 | G>W | No |
ClinGen gnomAD |
|
|
CA280739154 rs897577350 |
941 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396100555 rs1405785504 |
942 | Y>C | No |
ClinGen gnomAD |
|
|
rs1555500428 CA396100570 |
943 | D>E | No |
ClinGen Ensembl |
|
|
CA8041341 rs746250673 |
943 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1176631078 CA396100574 |
944 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8041342 rs770163832 |
944 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8041343 rs140830761 |
945 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763501714 CA8041344 |
947 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA396100617 rs1377157730 |
948 | I>V | No |
ClinGen gnomAD |
|
|
rs1445457393 CA396100647 |
951 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM176820 COSM176819 rs144689991 COSM3691022 CA280739155 |
951 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144689991 CA8041345 |
951 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396100653 rs144689991 |
951 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8041349 rs200836150 |
953 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8041348 rs200836150 |
953 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200836150 CA8041350 |
953 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1164468458 RCV000513026 CA396100672 |
954 | N>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs147624679 CA280739156 |
954 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147624679 CA8041351 |
954 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752648365 CA8041352 |
955 | G>R | No |
ClinGen ExAC |
|
|
CA280739157 rs1017665248 |
956 | I>F | No |
ClinGen Ensembl |
|
|
rs1359848423 CA396100706 |
957 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1597187153 CA396100715 |
958 | V>F | No |
ClinGen Ensembl |
|
|
CA8041354 rs764252270 |
959 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041353 rs758472394 |
959 | A>P | No |
ClinGen ExAC |
|
|
rs764252270 CA396100729 |
959 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751706566 CA8041355 |
960 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8041357 rs781510356 |
963 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA396100768 rs1248542534 |
963 | L>W | No |
ClinGen gnomAD |
|
|
rs1243767818 CA396100785 |
964 | P>H | No |
ClinGen TOPMed |
|
|
rs199657117 CA8041358 |
965 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA280739423 rs909823103 |
967 | P>Q | No |
ClinGen Ensembl |
|
|
rs962637652 CA280739424 |
968 | T>I | No |
ClinGen gnomAD |
|
|
rs962637652 CA396101003 |
968 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 972 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396101034 rs1567360978 |
973 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs757384673 CA8041376 |
974 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs111734407 CA8041377 |
975 | Y>N | Glycogen storage disease ixb (gsd9b) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1364327234 CA396101058 |
976 | E>D | No |
ClinGen gnomAD |
|
|
rs199948078 CA396101053 |
976 | E>K | Glycogen storage disease ixb (gsd9b) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1402403198 CA396101077 |
979 | F>I | No |
ClinGen gnomAD |
|
|
rs780384990 CA8041378 |
979 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 979 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749656778 CA8041379 |
980 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755436316 CA8041380 |
983 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1001701964 CA280739426 |
983 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 985 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041381 rs779418998 |
986 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370623353 CA8041383 |
987 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776067420 CA8041384 |
988 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396101132 rs1379295648 |
988 | G>R | No |
ClinGen TOPMed |
|
|
CA396101136 rs776067420 |
988 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446256651 CA396101148 |
990 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745518758 CA8041385 |
990 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8041386 rs769342137 |
991 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA396101175 rs1238905095 |
994 | Q>P | No |
ClinGen gnomAD |
|
|
rs142163694 CA8041389 |
995 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774411928 CA8041390 |
996 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA280739427 rs748073795 |
998 | I>T | No |
ClinGen Ensembl |
|
|
CA8041393 rs750528508 |
1001 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8041392 rs143211850 |
1001 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1368101511 CA396101417 |
1002 | L>I | No |
ClinGen TOPMed |
|
|
CA8041413 rs760691785 |
1003 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1003 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766494905 CA8041414 |
1004 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759817679 CA8041416 |
1005 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8041415 rs754028401 |
1005 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765569354 CA8041417 |
1008 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1281631237 CA396101454 |
1008 | I>V | No |
ClinGen gnomAD |
|
|
rs1174717229 CA396101469 |
1010 | L>R | No |
ClinGen gnomAD |
|
|
CA280739840 rs903354008 |
1011 | E>G | No |
ClinGen TOPMed |
|
|
CA396101479 rs1460727369 |
1012 | R>K | No |
ClinGen TOPMed |
|
|
CA280739843 rs961500580 |
1013 | N>S | No |
ClinGen Ensembl |
|
|
rs374397380 CA8041420 |
1015 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1394450119 CA396101497 |
1015 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749903045 CA8041421 |
1016 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8041422 rs755668179 |
1021 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1485618492 CA396101543 |
1021 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396101548 rs1198482717 |
1022 | V>L | No |
ClinGen TOPMed |
|
|
rs1222729478 CA396101557 |
1023 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1023 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372805949 CA280739855 |
1025 | D>G | No |
ClinGen ESP gnomAD |
|
|
CA8041423 rs779755206 |
1025 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8041425 rs375157149 |
1027 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199558394 CA8041426 |
1029 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747925145 CA8041427 |
1030 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396101606 rs771995602 |
1031 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280739860 rs912541354 |
1031 | A>T | No |
ClinGen gnomAD |
|
|
rs771995602 CA8041428 |
1031 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280739863 rs894560511 |
1033 | N>S | No |
ClinGen TOPMed |
|
|
rs773001290 CA8041429 |
1034 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs574048196 CA8041430 |
1036 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396101659 rs1337169196 |
1038 | D>E | No |
ClinGen TOPMed |
|
|
rs1478325401 CA396101657 |
1038 | D>V | No |
ClinGen gnomAD |
|
|
CA8041432 rs776744807 |
1039 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs202110938 CA280739869 |
1040 | S>G | No |
ClinGen 1000Genomes |
|
|
rs372327608 CA8041434 |
1041 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280739876 rs936504726 |
1042 | L>P | No |
ClinGen Ensembl |
|
|
rs1383726 CA280739874 |
1042 | L>V | No |
ClinGen Ensembl |
|
|
rs1294177728 CA396101680 |
1043 | K>E | No |
ClinGen gnomAD |
|
|
CA8041438 rs763252427 |
1044 | E>G | No |
ClinGen ExAC TOPMed |
|
|
CA8041439 rs200896827 |
1045 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA396101695 rs1597191201 |
1045 | I>V | No |
ClinGen Ensembl |
|
|
rs1172059384 CA396101701 |
1046 | E>K | No |
ClinGen TOPMed |
|
|
rs751982615 CA8041442 |
1048 | Q>K | No |
ClinGen ExAC |
|
|
CA396101741 rs1449905549 |
1049 | D>V | No |
ClinGen gnomAD |
|
|
CA8041478 rs752287271 |
1050 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs777370806 CA8041480 |
1051 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8041479 rs758123397 |
1051 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA396101763 rs1597191912 |
1052 | T>I | No |
ClinGen Ensembl |
|
|
CA280740032 rs889928704 |
1055 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs570916053 CA280740035 |
1056 | N>D | No |
ClinGen Ensembl |
|
|
CA280740042 rs989193292 |
1058 | P>L | No |
ClinGen TOPMed |
|
|
rs1019860879 CA280740040 |
1058 | P>T | No |
ClinGen TOPMed |
|
|
rs746809041 COSM125347 CA396101802 |
1059 | P>A | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA396101806 rs1287901585 |
1059 | P>L | No |
ClinGen TOPMed |
|
|
CA8041482 rs757144520 |
1061 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA396101821 rs1194104476 |
1062 | K>R | No |
ClinGen gnomAD |
|
|
rs1262822212 CA396101828 |
1063 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1065 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8041483 rs374634942 |
1068 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8041485 rs769735460 |
1072 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775709533 COSM970917 COSM970915 COSM970916 CA8041486 |
1072 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1074 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405663204 CA396101911 COSM3957596 COSM3957595 COSM3957594 |
1075 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768937097 CA396101920 |
1077 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1330403719 CA396101946 |
1081 | E>A | No |
ClinGen gnomAD |
|
|
rs772612156 CA8041491 |
1081 | E>K | No |
ClinGen ExAC gnomAD |
|
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CA8041492 rs773823086 |
1085 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
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CA280740056 rs12447441 |
1085 | N>T | No |
ClinGen Ensembl |
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rs144657506 CA8041493 |
1086 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
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rs752261025 CA8041495 |
1087 | D>A | No |
ClinGen ExAC gnomAD |
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rs752261025 CA8041496 |
1087 | D>G | No |
ClinGen ExAC gnomAD |
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CA8041498 rs763764574 |
1089 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q93100
[MIM: 261750]: Glycogen storage disease 9B (GSD9B)
A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. {ECO:0000269|PubMed:9402963}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. {ECO:0000269|PubMed:9402963}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| phosphorylase kinase complex | An enzyme complex that catalyzes the phosphorylation of phosphorylase b to form phosphorylase a. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| generation of precursor metabolites and energy | The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. |
| glycogen metabolic process | The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7TSH2 | Phkb | Phosphorylase b kinase regulatory subunit beta | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGAAGLTAE | VSWKVLERRA | RTKRSGSVYE | PLKSINLPRP | DNETLWDKLD | HYYRIVKSTL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLYQSPTTGL | FPTKTCGGDQ | KAKIQDSLYC | AAGAWALALA | YRRIDDDKGR | THELEHSAIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CMRGILYCYM | RQADKVQQFK | QDPRPTTCLH | SVFNVHTGDE | LLSYEEYGHL | QINAVSLYLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YLVEMISSGL | QIIYNTDEVS | FIQNLVFCVE | RVYRVPDFGV | WERGSKYNNG | STELHSSSVG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LAKAALEAIN | GFNLFGNQGC | SWSVIFVDLD | AHNRNRQTLC | SLLPRESRSH | NTDAALLPCI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SYPAFALDDE | VLFSQTLDKV | VRKLKGKYGF | KRFLRDGYRT | SLEDPNRCYY | KPAEIKLFDG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IECEFPIFFL | YMMIDGVFRG | NPKQVQEYQD | LLTPVLHHTT | EGYPVVPKYY | YVPADFVEYE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KNNPGSQKRF | PSNCGRDGKL | FLWGQALYII | AKLLADELIS | PKDIDPVQRY | VPLKDQRNVS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MRFSNQGPLE | NDLVVHVALI | AESQRLQVFL | NTYGIQTQTP | QQVEPIQIWP | QQELVKAYLQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LGINEKLGLS | GRPDRPIGCL | GTSKIYRILG | KTVVCYPIIF | DLSDFYMSQD | VFLLIDDIKN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ALQFIKQYWK | MHGRPLFLVL | IREDNIRGSR | FNPILDMLAA | LKKGIIGGVK | VHVDRLQTLI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SGAVVEQLDF | LRISDTEELP | EFKSFEELEP | PKHSKVKRQS | STPSAPELGQ | QPDVNISEWK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DKPTHEILQK | LNDCSCLASQ | AILLGILLKR | EGPNFITKEG | TVSDHIERVY | RRAGSQKLWL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AVRYGAAFTQ | KFSSSIAPHI | TTFLVHGKQV | TLGAFGHEEE | VISNPLSPRV | IQNIIYYKCN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| THDEREAVIQ | QELVIHIGWI | ISNNPELFSG | MLKIRIGWII | HAMEYELQIR | GGDKPALDLY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QLSPSEVKQL | LLDILQPQQN | GRCWLNRRQI | DGSLNRTPTG | FYDRVWQILE | RTPNGIIVAG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KHLPQQPTLS | DMTMYEMNFS | LLVEDTLGNI | DQPQYRQIVV | ELLMVVSIVL | ERNPELEFQD |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KVDLDRLVKE | AFNEFQKDQS | RLKEIEKQDD | MTSFYNTPPL | GKRGTCSYLT | KAVMNLLLEG |
| 1090 | |||||
| EVKPNNDDPC | LIS |