Q5JTV8
PR
Gene name |
TOR1AIP1 (LAP1) |
Protein name |
Torsin-1A-interacting protein 1 |
Names |
Lamin-associated protein 1B, LAP1B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26092 |
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
2 structures for Q5JTV8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4TVS | X-ray | 160 A | A/B | 356-583 | PDB |
| AF-Q5JTV8-F1 | Predicted | AlphaFoldDB |
573 variants for Q5JTV8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001232336 rs1647734130 |
4 | D>missing | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069929 rs1647735292 |
7 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343577514 rs1304415641 RCV001245898 |
10 | A>E | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001313528 CA1268624 rs780125585 |
12 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749592068 CA1268625 RCV000560627 RCV001541470 |
13 | E>K | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748263394 CA1268630 RCV001205135 |
15 | W>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1647739818 TCGA novel RCV001044122 |
22 | R>G | Autosomal recessive limb-girdle muscular dystrophy type 2Y Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
RCV001547641 RCV000550453 CA1268639 rs146976883 |
24 | P>A | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000526574 rs1553240696 CA343577590 |
24 | P>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1647741420 RCV001247412 |
27 | E>V | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048160 rs779312410 CA1268646 |
30 | G>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1268653 RCV001232645 rs777102321 |
38 | G>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1268657 RCV001298594 rs548996424 |
41 | D>Y | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1268658 RCV001245576 rs376697448 RCV003166542 |
42 | A>V | Autosomal recessive limb-girdle muscular dystrophy type 2Y Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1268667 rs765495241 RCV000653383 |
48 | P>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1268674 RCV000653384 rs139690983 RCV001556446 |
52 | Q>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1248211584 RCV000810458 CA343577751 |
55 | R>G | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs770204192 RCV001312869 CA1268675 |
55 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1647752093 RCV001299485 |
58 | R>K | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343577780 RCV000653382 rs1553240735 |
59 | F>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000239525 rs879255612 |
62 | E>missing | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804138 rs148576898 CA33712292 |
63 | P>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1571719035 CA343577945 RCV000819012 |
88 | E>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653380 rs769686590 CA1268701 |
91 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1268702 rs775375281 RCV000560149 |
92 | S>T | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1268704 RCV000531793 rs780616161 |
94 | S>C | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001320252 rs761950048 CA1268706 |
97 | E>K | Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2Y [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA343578018 rs1571719094 RCV000805098 |
99 | V>A | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376720897 CA1268711 RCV000543530 |
101 | E>K | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223468 rs375448136 CA33712440 |
102 | S>N | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs777465166 RCV001342657 CA1268713 |
103 | A>V | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA343578076 rs1347375251 RCV001314835 |
108 | S>F | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001231057 CA1268716 rs770530581 |
109 | R>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000707137 rs199933063 CA1268727 |
121 | E>K | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001312653 rs766817911 CA1268728 |
122 | M>I | Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2Y [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs377375784 CA1268731 RCV001051270 |
124 | T>M | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1268732 rs201023108 RCV001044272 |
125 | R>G | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000686670 rs200812894 CA1268735 |
127 | T>I | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001072037 rs1647773232 |
128 | T>I | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1268748 rs199709287 RCV001071610 |
142 | P>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1268750 RCV001692206 rs141391430 RCV000536526 |
143 | S>F | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1268753 RCV000242478 rs1281378 RCV001610614 VAR_025717 RCV001513690 |
146 | M>T | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1376862055 RCV002546143 RCV001325824 CA343578367 |
148 | R>T | Autosomal recessive limb-girdle muscular dystrophy type 2Y Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001838118 rs373049289 RCV000705411 CA1268758 |
151 | L>P | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773422033 RCV001308668 |
152 | R>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773422033 CA1268760 RCV001246974 |
152 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1268759 RCV001069513 rs771916953 |
152 | R>W | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1647780800 RCV001773675 RCV001338648 |
153 | D>N | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771016825 CA343578425 RCV001305597 |
154 | S>T | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs540366779 RCV000653381 CA1268763 |
155 | H>Y | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000797935 RCV002537064 CA1268764 rs759689850 RCV001766651 |
156 | S>F | Autosomal recessive limb-girdle muscular dystrophy type 2Y Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001440764 rs142574917 CA1268811 RCV000876065 |
165 | Q>E | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1571720874 CA343579305 RCV000802632 |
172 | I>V | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001561359 rs145521179 RCV000549178 |
177 | V>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225018 rs1647864922 |
183 | A>G | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538112 CA1268844 rs534816625 |
194 | R>C | Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2Y [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1268845 rs761858266 RCV001064299 |
194 | R>H | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001299327 rs1647995889 |
198 | L>I | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
CA33679297 RCV001056114 RCV001564898 rs200495464 |
213 | N>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs778326858 RCV000817819 CA1268881 |
216 | E>* | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs377110579 RCV001216368 CA1268912 |
221 | E>K | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1648457474 RCV001222816 |
222 | E>missing | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201514 rs758018677 |
222 | E>missing | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1198939008 CA343566580 RCV001257229 |
252 | S>L | Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2Y [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001069849 rs1648544786 |
255 | Q>* | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1648545614 RCV001322829 |
264 | S>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227433 rs768807943 CA1268946 |
265 | Q>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA1268962 RCV001052129 rs780046037 |
270 | T>A | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs609521 CA1268967 RCV001513691 RCV000247762 RCV001683016 VAR_025718 |
276 | P>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1648699740 RCV001320400 |
276 | P>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044554 rs775959429 |
284 | Q>H | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002534371 RCV000699251 rs1558045449 CA343569123 |
285 | K>N | Autosomal recessive limb-girdle muscular dystrophy type 2Y Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1269019 RCV000252522 VAR_034566 RCV001722301 RCV001510938 rs17279712 |
293 | Q>H | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147648930 CA33684326 RCV001041559 |
295 | A>V | Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2Y [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770895707 RCV001055688 CA1269023 |
303 | N>D | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1269051 RCV001297850 rs201979642 |
315 | S>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1571738652 RCV000812073 |
318 | T>missing | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1269054 RCV000991359 rs11581962 |
321 | R>* | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA33687048 rs1045988718 RCV000690902 |
321 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs748527858 CA1269074 RCV001318385 |
328 | Q>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1269079 rs769461759 RCV001048244 |
338 | W>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1269096 RCV001235238 rs139364730 |
380 | Q>H | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000554239 CA1269099 rs149690630 RCV001532083 |
383 | D>N | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228151 rs541059100 CA1269107 |
404 | R>W | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1649063848 RCV001061562 |
409 | I>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201975339 CA1269122 RCV001241163 |
433 | Y>C | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
rs1649066648 RCV001228060 |
437 | R>C | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239631 rs1649066917 |
438 | S>N | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001592975 rs145065164 RCV003166134 RCV000796224 CA1269126 |
440 | R>H | Autosomal recessive limb-girdle muscular dystrophy type 2Y Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1571740939 RCV000802662 CA343574307 |
444 | I>V | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001242716 rs374418323 RCV001751482 CA1269133 |
452 | Q>R | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368563369 CA1269139 RCV001050687 |
461 | V>L | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201518227 RCV000626055 CA1269145 |
476 | A>V | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814926 CA1269151 RCV002282377 rs138345857 |
486 | A>T | Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2Y [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000699901 CA1269153 rs375127929 |
489 | T>A | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs375127929 RCV001318798 |
489 | T>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343575463 RCV000794803 rs1571741085 |
493 | Y>C | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1571741081 CA343575453 RCV000817569 |
493 | Y>H | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797223 rs201388189 CA1269161 |
523 | L>Q | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1649081168 RCV001061026 |
535 | F>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690346 CA343576435 rs1558048637 |
537 | K>E | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762657793 RCV001218944 |
549 | Y>C | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1269173 rs567959058 RCV001219147 |
550 | N>S | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001755909 RCV000530725 rs756853004 CA1269174 |
551 | H>D | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1649088273 RCV001230034 |
584 | L>K | Autosomal recessive limb-girdle muscular dystrophy type 2Y [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762432523 CA1268617 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199779410 CA33711981 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs763660412 CA1268618 |
3 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268619 rs751467256 |
4 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916736921 CA33711988 |
4 | D>N | No |
ClinGen gnomAD |
|
|
CA343577480 rs1571718497 |
5 | G>W | No |
ClinGen Ensembl |
|
|
CA33711992 rs867916276 |
6 | R>W | No |
ClinGen gnomAD |
|
|
rs1271882866 CA343577510 |
10 | A>P | No |
ClinGen TOPMed |
|
|
CA343577512 rs1304415641 |
10 | A>V | No |
ClinGen gnomAD |
|
|
CA343577518 rs755952140 |
11 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1268623 rs755952140 |
11 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1268622 rs750120353 |
11 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs768829514 CA1268626 |
13 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA343577532 rs905492127 |
14 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA33712041 rs905492127 |
14 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772669531 CA343577536 |
15 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268631 rs772669531 |
15 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773770986 CA1268632 |
16 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA343577545 rs773770986 |
16 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1189600415 CA343577563 |
19 | V>D | No |
ClinGen gnomAD |
|
|
rs760887402 CA33712072 |
19 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268633 rs760887402 |
19 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343577569 rs1433733726 |
20 | T>I | No |
ClinGen gnomAD |
|
|
rs1571718581 CA343577564 |
20 | T>P | No |
ClinGen Ensembl |
|
|
CA1268635 rs774997818 |
21 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343577572 rs1177908378 |
21 | P>S | No |
ClinGen gnomAD |
|
|
rs963791878 CA33712080 |
22 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751018958 CA1268638 |
23 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1422964083 CA343577597 |
25 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA343577595 rs1387870868 |
25 | I>T | No |
ClinGen gnomAD |
|
|
CA343577598 rs1334141032 |
26 | R>G | No |
ClinGen TOPMed |
|
|
CA1268642 rs755857967 |
27 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750432849 CA1268641 |
27 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1008146553 CA33712095 |
28 | G>E | No |
ClinGen gnomAD |
|
|
rs754095420 CA1268644 |
28 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA343577615 rs755204601 |
29 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1571718646 CA343577617 |
29 | R>S | No |
ClinGen Ensembl |
|
|
CA1268645 rs755204601 |
29 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33712103 rs779312410 |
30 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs560265006 CA33712104 |
30 | G>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1268648 rs772204342 |
31 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA343577628 rs1571718676 |
32 | L>F | No |
ClinGen Ensembl |
|
|
rs778125681 CA1268649 |
33 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1194168041 CA343577634 |
33 | A>V | No |
ClinGen gnomAD |
|
|
rs771167764 CA1268651 |
34 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747615830 CA1268650 |
34 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349961321 CA343577660 |
37 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343577663 rs777102321 |
38 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268654 rs200098735 |
39 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1268655 rs768257163 |
40 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343577682 rs548996424 |
41 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1268656 rs548996424 |
41 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1268659 rs376697448 |
42 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279272440 CA343577690 |
42 | A>S | No |
ClinGen gnomAD |
|
|
rs760718959 CA1268661 |
43 | P>A | No |
ClinGen ExAC |
|
|
rs1022821595 CA33712158 |
44 | A>P | No |
ClinGen Ensembl |
|
|
CA1268662 rs778308061 |
44 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343577706 rs1322402103 |
45 | Y>S | No |
ClinGen gnomAD |
|
|
rs968132851 CA33712161 |
46 | R>G | No |
ClinGen Ensembl |
|
|
CA1268663 rs753648390 |
46 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA1268666 rs754827433 |
47 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1268664 rs1553240716 |
47 | T>P | No |
ClinGen Ensembl |
|
|
CA1268668 rs753024261 |
48 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765495241 CA343577718 |
48 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs926969093 CA33712196 |
49 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs374232191 CA33712211 |
50 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374232191 CA1268672 |
50 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1268671 rs747451251 |
50 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781685157 CA1268673 |
51 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA343577735 rs1030944685 |
52 | Q>* | No |
ClinGen gnomAD |
|
|
CA343577739 rs1299122146 |
52 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA33712223 rs1030944685 |
52 | Q>K | No |
ClinGen gnomAD |
|
|
CA343577743 rs1446370798 |
53 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA33712228 rs940544997 |
53 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1344989599 CA343577750 |
54 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1268677 rs747838934 |
56 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1571718855 CA343577766 |
57 | V>G | No |
ClinGen Ensembl |
|
|
CA1268678 rs771464078 |
57 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1440466625 CA343577784 |
60 | S>A | No |
ClinGen gnomAD |
|
|
rs1037543478 CA33712253 |
60 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1268679 rs772733249 |
61 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs992375616 CA33712262 |
61 | D>N | No |
ClinGen Ensembl |
|
|
CA33712279 rs867881766 |
62 | E>G | No |
ClinGen Ensembl |
|
|
CA343577793 rs1176186504 |
62 | E>K | No |
ClinGen gnomAD |
|
|
rs148576898 CA343577803 |
63 | P>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA343577802 rs148576898 |
63 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs916790698 CA33712287 |
63 | P>S | No |
ClinGen Ensembl |
|
|
rs1235118706 CA343577806 |
64 | P>S | No |
ClinGen gnomAD |
|
|
CA1268681 rs766275401 |
65 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268683 rs759389044 |
66 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33712318 rs759389044 |
66 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776720850 CA1268682 |
66 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs752932511 CA343577830 |
68 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs752932511 CA1268685 |
68 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1268684 rs531506914 |
68 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537204281 CA33712325 |
69 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA33712326 rs919698002 |
70 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1571718952 CA343577857 |
72 | P>L | No |
ClinGen Ensembl |
|
|
CA1268686 rs758694595 |
72 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271534392 CA343577867 |
74 | V>E | No |
ClinGen Ensembl |
|
|
rs1241031948 CA343577865 |
74 | V>L | No |
ClinGen gnomAD |
|
|
CA343577875 rs1233062296 |
75 | A>V | No |
ClinGen TOPMed |
|
|
CA343577877 rs1342839150 |
76 | K>E | No |
ClinGen gnomAD |
|
|
CA343577876 rs1342839150 |
76 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279097987 CA343577886 |
77 | E>G | No |
ClinGen gnomAD |
|
|
CA1268688 rs751615733 |
77 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1207824517 CA343577891 |
78 | R>G | No |
ClinGen gnomAD |
|
|
rs757287238 CA343577894 |
78 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757287238 CA1268689 |
78 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268691 rs781656421 |
79 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268690 rs781656421 |
79 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268692 rs376847458 |
81 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1268694 rs749640352 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1235063002 CA343577923 |
83 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1268696 rs200024298 |
85 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746473367 CA1268697 |
86 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA343577940 rs1471197492 |
87 | L>I | No |
ClinGen gnomAD |
|
|
rs369572685 CA1268699 |
89 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1571719042 CA343577953 |
89 | E>Q | No |
ClinGen Ensembl |
|
|
rs1331015462 CA343577959 |
90 | F>I | No |
ClinGen gnomAD |
|
|
CA1268700 rs759583089 |
91 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA343577985 rs1476875760 |
94 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1268705 rs751742803 |
95 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1268707 rs374172035 |
97 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750908766 CA1268708 |
98 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756568611 CA1268709 |
100 | R>K | No |
ClinGen ExAC |
|
|
CA343578031 rs1481609361 |
101 | E>D | No |
ClinGen gnomAD |
|
|
CA343578026 rs376720897 |
101 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375448136 CA33712438 |
102 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1466360635 CA343578040 |
103 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388679551 CA343578045 |
104 | Y>H | No |
ClinGen gnomAD |
|
|
CA343578057 rs1224663338 |
105 | Y>F | No |
ClinGen TOPMed |
|
|
rs1224663338 CA343578055 |
105 | Y>S | No |
ClinGen TOPMed |
|
|
rs1558037063 CA343578079 |
109 | R>K | No |
ClinGen Ensembl |
|
|
rs1558037069 CA343578084 |
110 | Q>* | No |
ClinGen Ensembl |
|
|
rs1021447566 CA343578087 |
110 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1021447566 CA33712459 |
110 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343578086 rs1021447566 |
110 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1268718 rs745393053 |
111 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343578091 rs1229161512 |
111 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA33712475 rs769814347 |
112 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769814347 CA1268719 |
112 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33712468 rs969558059 |
112 | R>W | No |
ClinGen TOPMed |
|
|
CA343578105 rs1209961111 |
113 | Q>H | No |
ClinGen gnomAD |
|
|
CA33712481 rs1031009039 |
114 | P>L | No |
ClinGen gnomAD |
|
|
rs537187619 CA1268720 |
114 | P>S | No |
ClinGen ExAC |
|
|
rs369281904 CA1268721 |
115 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1268722 rs533632977 |
116 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1268723 rs558835122 |
117 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 117 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1268725 rs767750085 |
118 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA33712503 rs2297425 |
119 | T>I | No |
ClinGen Ensembl |
|
|
rs1472497370 CA343578140 |
120 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs567144425 CA1268726 |
120 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343578138 rs1472497370 |
120 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1417800815 CA343578156 |
122 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1360924471 CA343578164 |
123 | K>R | No |
ClinGen gnomAD |
|
|
CA1268730 rs755362251 |
124 | T>A | No |
ClinGen ExAC |
|
|
rs756916997 CA1268733 |
125 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs756916997 CA343578173 |
125 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1316565602 CA343578175 |
126 | R>G | No |
ClinGen gnomAD |
|
|
CA33712543 rs201972728 |
126 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201972728 CA1268734 |
126 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343578182 rs1286012704 |
127 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343578186 rs769442684 |
128 | T>A | No |
ClinGen ExAC |
|
|
rs769442684 CA343578185 |
128 | T>P | No |
ClinGen ExAC |
|
|
CA1268736 rs769442684 |
128 | T>S | No |
ClinGen ExAC |
|
|
rs1254304316 CA343578192 |
129 | R>C | No |
ClinGen gnomAD |
|
|
CA1268738 rs749223862 |
129 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749223862 CA33712564 |
129 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs920103194 CA343578201 |
131 | Q>* | No |
ClinGen Ensembl |
|
|
rs920103194 CA33712575 |
131 | Q>E | No |
ClinGen Ensembl |
|
|
rs773970711 CA1268740 |
131 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1437975371 CA343578203 |
131 | Q>R | No |
ClinGen gnomAD |
|
|
CA343578208 rs1364360813 |
132 | Q>E | No |
ClinGen gnomAD |
|
|
rs145473759 CA1268741 |
132 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1268742 rs772217777 |
133 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1234333783 CA343578227 |
134 | H>Q | No |
ClinGen TOPMed |
|
|
CA1268743 rs773440511 |
135 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1268744 rs760733600 |
135 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929749059 CA33712603 |
137 | Q>K | No |
ClinGen gnomAD |
|
|
CA343578264 rs1374010658 |
138 | P>L | No |
ClinGen gnomAD |
|
|
CA343578256 rs1327144275 |
138 | P>S | No |
ClinGen TOPMed |
|
|
rs777161352 CA1268746 |
139 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777161352 CA343578274 |
139 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343578272 rs777161352 |
139 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268747 rs199709287 |
142 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204537307 CA343578324 |
144 | P>A | No |
ClinGen gnomAD |
|
|
CA343578328 rs1164103423 |
144 | P>L | No |
ClinGen TOPMed |
|
|
rs767221093 CA343578333 |
145 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1268751 rs767221093 |
145 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343578349 rs1251101542 |
146 | M>I | No |
ClinGen gnomAD |
|
|
rs1281378 CA1268754 |
146 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1268752 rs750158104 |
146 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs748854700 CA1268755 |
148 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343578372 rs1470187256 |
148 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs370080133 CA1268756 |
149 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1268757 rs148333948 |
149 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs903021934 CA33712662 |
153 | D>G | No |
ClinGen Ensembl |
|
|
CA343578432 rs1224561461 |
154 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs771016825 CA1268762 |
154 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA343578467 rs1251981351 |
157 | S>F | No |
ClinGen gnomAD |
|
|
rs1027636331 CA33713877 |
160 | D>A | No |
ClinGen TOPMed |
|
|
CA343579157 rs887727270 |
160 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA33713875 rs887727270 |
160 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769729774 CA1268809 |
161 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs373411869 CA1268808 |
161 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377560218 CA1268810 |
163 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1268812 rs370669564 |
166 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343579232 rs1392954653 |
166 | T>S | No |
ClinGen TOPMed |
|
|
rs953014754 CA33713888 |
168 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs536849986 CA1268813 |
169 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150816990 CA1268814 |
171 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1268816 rs776120444 |
177 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 178 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759278954 CA1268818 |
179 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1191285522 CA343579400 |
180 | I>L | No |
ClinGen gnomAD |
|
|
CA343580763 rs1452792883 |
187 | E>Q | No |
ClinGen gnomAD |
|
|
rs886901097 CA33715185 |
188 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762434599 CA1268842 |
190 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1268841 VAR_035818 rs775134055 |
190 | V>I | a breast cancer sample; somatic mutation [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA343580860 rs146164995 CA343580863 |
192 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA33715190 rs138148778 |
192 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs907592735 CA33715198 |
195 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1571723198 CA343580898 |
195 | R>L | No |
ClinGen Ensembl |
|
|
rs750166903 CA1268847 |
196 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755987722 CA1268848 |
197 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1268849 rs575390430 |
200 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755081714 CA1268852 |
203 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755081714 CA1268851 |
203 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1318942147 CA343581046 |
204 | E>* | No |
ClinGen TOPMed |
|
|
rs759786680 CA1268876 |
207 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1268878 rs752751720 |
209 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343565962 rs1226835931 |
213 | N>D | No |
ClinGen gnomAD |
|
|
rs1219906935 COSM1689322 CA343565976 |
215 | S>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1170530772 CA343566159 |
218 | G>E | No |
ClinGen TOPMed |
|
|
rs1281135944 CA343565997 |
218 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756494668 CA1268913 |
222 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1450607304 CA343566210 |
222 | E>K | No |
ClinGen gnomAD |
|
|
rs778625047 CA1268914 |
223 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778625047 CA343566220 |
223 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747798408 CA343566247 |
226 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343566244 rs1229757938 |
226 | D>G | No |
ClinGen gnomAD |
|
|
CA343566260 rs1571730636 |
228 | S>C | No |
ClinGen Ensembl |
|
|
CA343566268 rs1316189620 |
229 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs771591376 CA1268916 |
231 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343566296 rs1411061927 |
233 | T>I | No |
ClinGen Ensembl |
|
|
CA343566293 rs1459566034 |
233 | T>S | No |
ClinGen gnomAD |
|
|
rs746552781 CA1268918 |
234 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1268919 rs770921282 |
235 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776719227 CA1268920 |
236 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs868139084 CA33679966 |
237 | A>D | No |
ClinGen Ensembl |
|
|
rs1400553379 CA343566360 |
239 | S>F | No |
ClinGen gnomAD |
|
|
RCV001009288 rs1366427526 |
241 | D>missing | No |
ClinVar dbSNP |
|
|
rs1558043075 CA343566441 |
244 | E>D | No |
ClinGen Ensembl |
|
|
rs868291218 CA33679979 |
245 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA343566460 rs1206637363 |
246 | G>R | No |
ClinGen TOPMed |
|
|
rs1391163643 CA343566468 |
246 | G>V | No |
ClinGen gnomAD |
|
|
rs1309206124 CA343566472 |
247 | D>N | No |
ClinGen TOPMed |
|
|
CA343566551 rs1437787065 |
248 | K>E | No |
ClinGen gnomAD |
|
|
CA1268940 rs781268849 |
250 | T>A | No |
ClinGen ExAC |
|
|
CA1268941 rs745835251 |
251 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1268944 rs749139843 |
257 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1268943 rs775100134 |
257 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281110705 CA343566662 |
260 | F>Y | No |
ClinGen TOPMed |
|
|
CA343566688 rs1410468926 |
261 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1571732280 CA343566676 |
261 | W>R | No |
ClinGen Ensembl |
|
|
rs1300390617 CA343568304 |
266 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343568307 rs1300390617 |
266 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745407070 CA1268960 |
267 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1571734769 CA343568354 |
268 | N>D | No |
ClinGen Ensembl |
|
|
rs755966637 CA1268961 |
269 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1266408949 CA343568391 |
269 | F>L | No |
ClinGen gnomAD |
|
|
CA1268963 rs749023194 |
270 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956420216 CA33683705 |
272 | H>R | No |
ClinGen Ensembl |
|
|
rs1206110390 CA343568459 |
273 | D>A | No |
ClinGen TOPMed |
|
|
rs1190631258 CA343568469 |
273 | D>E | No |
ClinGen gnomAD |
|
|
rs774524573 CA1268965 |
274 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs760875856 CA33683719 |
275 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1268968 rs609521 |
276 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs609521 CA343568519 |
276 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1268966 rs535285280 |
276 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343568511 rs535285280 |
276 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322893835 CA343569101 |
282 | G>A | No |
ClinGen gnomAD |
|
|
CA1269008 rs760172344 |
282 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770448982 CA1269009 |
283 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767019881 CA1269012 |
286 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1269011 rs763416108 |
286 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA343569133 rs1381128906 |
287 | P>L | No |
ClinGen gnomAD |
|
|
CA1269014 rs760072486 |
287 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343569137 rs1433212332 |
288 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1269016 rs753367660 |
289 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1269018 rs778824138 |
291 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1269017 rs754867276 |
291 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343569167 rs1371549457 |
292 | P>L | No |
ClinGen gnomAD |
|
|
rs758244087 CA1269020 |
297 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1264549176 CA343569211 |
299 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 300 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1269021 rs777857210 |
301 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1269022 rs747299498 |
302 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA33686998 rs111260571 |
304 | D>N | No |
ClinGen Ensembl |
|
|
rs939710453 CA33687001 |
305 | S>N | No |
ClinGen TOPMed |
|
|
rs1229847787 CA343571789 |
306 | I>T | No |
ClinGen gnomAD |
|
|
rs780675731 CA1269049 |
306 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1304368146 CA343571811 |
307 | L>P | No |
ClinGen gnomAD |
|
|
rs1269467517 CA343571930 |
312 | G>R | No |
ClinGen gnomAD |
|
|
CA343571952 rs1571738635 |
313 | N>T | No |
ClinGen Ensembl |
|
|
rs1571738661 CA343571997 |
318 | T>P | No |
ClinGen Ensembl |
|
|
rs748463445 CA1269053 |
319 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33687054 rs867591661 |
322 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343572939 rs1425717250 |
327 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343572969 rs1456272969 |
331 | S>C | No |
ClinGen gnomAD |
|
|
rs1168322185 CA343572978 |
332 | F>L | No |
ClinGen gnomAD |
|
|
rs1369684939 CA343572989 |
334 | K>R | No |
ClinGen gnomAD |
|
|
CA343573009 rs576474780 |
337 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1269078 rs576474780 |
337 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780795730 CA1269077 |
337 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA343573013 rs1190713344 |
338 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1382333102 CA343573039 |
342 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1269083 rs774213967 |
346 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs768583219 CA1269082 |
346 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761664196 CA1269084 |
347 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343573083 rs1174930200 |
349 | S>F | No |
ClinGen TOPMed |
|
|
CA343573086 rs1469730588 |
350 | G>R | No |
ClinGen TOPMed |
|
|
CA343573097 rs1571740669 |
351 | S>R | No |
ClinGen Ensembl |
|
|
CA1269085 rs767468401 |
355 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1269086 rs750264700 |
355 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343573129 rs1479072096 |
356 | S>G | No |
ClinGen gnomAD |
|
|
CA1269089 rs752818462 |
356 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs755068825 CA1269090 |
356 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1269088 rs752818462 |
356 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1269091 rs565252677 |
358 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343573155 rs1363266878 |
360 | V>I | No |
ClinGen gnomAD |
|
|
rs758744392 CA1269093 |
363 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778066271 CA1269094 |
365 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs747407669 CA343573190 |
366 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747407669 CA1269095 |
366 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031484588 CA33688646 |
369 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA343573229 rs1448828033 |
371 | Q>* | No |
ClinGen TOPMed |
|
|
CA343573255 rs1365138221 |
374 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247266380 CA343573386 |
386 | L>P | No |
ClinGen gnomAD |
|
|
CA1269102 rs367617812 |
388 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 389 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343573453 rs1190495052 |
390 | S>R | No |
ClinGen gnomAD |
|
|
CA343573511 rs1472365018 |
393 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760556703 CA1269104 |
394 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1392452658 CA343573541 |
396 | K>E | No |
ClinGen gnomAD |
|
|
rs1558048411 CA343573571 |
397 | H>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 397 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398409808 CA343573600 |
399 | N>S | No |
ClinGen gnomAD |
|
|
CA343573598 rs1398409808 |
399 | N>T | No |
ClinGen gnomAD |
|
|
rs1011531647 CA33688689 |
400 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1339055773 CA343573648 |
401 | S>C | No |
ClinGen gnomAD |
|
|
rs754070588 CA1269106 |
401 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1219244726 CA343573657 |
402 | H>Y | No |
ClinGen gnomAD |
|
|
rs541059100 CA33688702 |
404 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343573688 rs200052778 |
404 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1269108 rs200052778 |
404 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752847821 CA1269110 |
409 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752847821 CA1269109 |
409 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778260166 CA1269111 |
412 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757678339 CA1269113 |
414 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1269114 rs779753660 |
416 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754680744 CA1269116 |
417 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1269118 rs747664520 |
419 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471399916 CA343573955 |
422 | L>V | No |
ClinGen gnomAD |
|
|
CA343574019 rs1451554165 |
426 | S>N | No |
ClinGen TOPMed |
|
|
rs772076024 CA1269119 |
428 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773336965 CA1269120 |
428 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458404277 CA343574094 |
431 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770886308 CA1269123 |
436 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs776887472 CA1269124 |
437 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343574225 rs759631433 |
438 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408228143 CA343574247 |
440 | R>C | No |
ClinGen gnomAD |
|
|
rs928316779 CA33688752 |
441 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 441 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148871236 CA1269129 |
443 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763037095 CA1269128 |
443 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343574348 rs1312394789 |
446 | G>E | No |
ClinGen TOPMed |
|
|
CA33688756 rs974380908 |
448 | D>E | No |
ClinGen Ensembl |
|
|
rs1258010529 CA343574406 |
450 | A>P | No |
ClinGen gnomAD |
|
|
CA1269131 rs370060674 |
450 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1269132 rs151184765 |
451 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs930010677 CA343574462 |
453 | D>A | No |
ClinGen gnomAD |
|
|
CA1269134 rs754518158 |
453 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930010677 CA33688766 |
453 | D>G | No |
ClinGen gnomAD |
|
|
rs778639424 CA1269135 |
454 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs747644318 CA1269136 |
455 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA33688784 rs1039647533 |
456 | T>A | No |
ClinGen TOPMed |
|
|
rs777817380 CA1269138 |
460 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs891216249 CA33688804 |
462 | D>A | No |
ClinGen Ensembl |
|
|
rs770926907 CA1269140 |
463 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA343574720 rs1431915521 |
465 | L>P | No |
ClinGen TOPMed |
|
|
rs943832647 CA33688810 |
467 | N>S | No |
ClinGen gnomAD |
|
|
CA343574865 rs1330669600 |
470 | K>N | No |
ClinGen gnomAD |
|
|
CA1269142 rs745682480 |
470 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769854035 CA1269143 |
474 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1445322693 CA343575061 |
477 | V>G | No |
ClinGen TOPMed |
|
|
CA343575104 rs1274832609 |
479 | H>R | No |
ClinGen gnomAD |
|
|
rs201525122 CA1269146 |
480 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1269147 rs745350340 |
480 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1269148 rs762266968 |
481 | F>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000239575 CA10586176 rs886037845 |
482 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768072582 CA1269149 |
482 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1200170472 CA343575170 |
482 | E>K | No |
ClinGen gnomAD |
|
|
rs764790208 CA1269152 |
487 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA343575352 rs375127929 |
489 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343575384 rs1182281113 |
490 | L>S | No |
ClinGen TOPMed |
|
|
CA343575402 rs1483889396 |
491 | I>F | No |
ClinGen TOPMed |
|
|
rs1390084641 CA343575596 |
498 | H>N | No |
ClinGen gnomAD |
|
|
CA343575602 rs1289144369 |
498 | H>P | No |
ClinGen TOPMed |
|
|
rs1390084641 CA343575588 |
498 | H>Y | No |
ClinGen gnomAD |
|
|
CA1269156 rs751149864 |
500 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757078578 CA1269158 |
501 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs757078578 CA1269157 |
501 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1218884503 CA343575848 |
506 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343575829 rs1344130187 |
506 | V>I | No |
ClinGen gnomAD |
|
|
CA343575960 rs1280599638 |
511 | T>A | No |
ClinGen TOPMed |
|
|
CA33688861 rs1035400676 |
519 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 522 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228027649 CA343576193 |
522 | S>R | No |
ClinGen gnomAD |
|
|
rs369453075 CA1269160 |
523 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749562938 CA1269162 |
524 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343576284 rs1558048612 |
527 | E>* | No |
ClinGen Ensembl |
|
|
rs969971863 CA343576305 |
528 | V>A | No |
ClinGen TOPMed |
|
|
rs969971863 CA33688874 |
528 | V>D | No |
ClinGen TOPMed |
|
|
rs1188545890 CA343576299 |
528 | V>L | No |
ClinGen gnomAD |
|
|
rs779620530 CA33688884 |
536 | L>V | No |
ClinGen Ensembl |
|
|
CA1269164 rs774345665 |
538 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA1269166 rs772444440 |
539 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141962133 CA1269168 |
541 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343576524 rs1434274115 |
542 | N>S | No |
ClinGen gnomAD |
|
|
rs1321182764 CA343576546 |
544 | N>H | No |
ClinGen gnomAD |
|
|
rs1407200979 CA343576583 |
546 | P>R | No |
ClinGen TOPMed |
|
|
CA1269170 rs376071213 |
549 | Y>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762657793 CA1269171 |
549 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA33688977 rs1035282388 |
550 | N>H | No |
ClinGen TOPMed |
|
|
CA343576697 rs1571741237 |
553 | D>A | No |
ClinGen Ensembl |
|
|
CA33688982 rs950397463 |
554 | P>S | No |
ClinGen TOPMed |
|
|
CA1269177 rs755843526 |
558 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1571741261 CA343576753 |
559 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 560 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343576767 rs1571741268 |
561 | W>R | No |
ClinGen Ensembl |
|
|
CA1269178 rs779777266 |
563 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs748833315 CA1269179 |
563 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748833315 CA33689014 |
563 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1269180 rs768805915 |
567 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 569 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 571 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908965605 CA33689019 |
571 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1167459113 CA343576838 |
572 | Q>R | No |
ClinGen gnomAD |
|
|
CA343576847 rs1558048697 |
573 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA343576857 rs1285584458 |
575 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 580 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748171054 CA1269182 |
582 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q5JTV8
[MIM: 617072]: Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC)
An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. {ECO:0000269|PubMed:24856141}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. {ECO:0000269|PubMed:24856141}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase activator activity | Binds to and increases the activity of an ATP hydrolysis activity. |
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| lamin binding | Binding to lamin; any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| membrane organization | A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. |
| nuclear membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear inner or outer membrane. |
| positive regulation of ATP-dependent activity | Any process that activates or increases the rate of an ATP-dependent activity. |
| protein localization to nuclear envelope | A process in which a protein is transported to, or maintained at, a location within a nuclear envelope. |
| protein localization to nucleus | A process in which a protein transports or maintains the localization of another protein to the nucleus. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGDGRRAEA | VREGWGVYVT | PRAPIREGRG | RLAPQNGGSS | DAPAYRTPPS | RQGRREVRFS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEPPEVYGDF | EPLVAKERSP | VGKRTRLEEF | RSDSAKEEVR | ESAYYLRSRQ | RRQPRPQETE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EMKTRRTTRL | QQQHSEQPPL | QPSPVMTRRG | LRDSHSSEED | EASSQTDLSQ | TISKKTVRSI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QEAPVSEDLV | IRLRRPPLRY | PRYEATSVQQ | KVNFSEEGET | EEDDQDSSHS | SVTTVKARSR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DSDESGDKTT | RSSSQYIESF | WQSSQSQNFT | AHDKQPSVLS | SGYQKTPQEW | APQTARIRTR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MQNDSILKSE | LGNQSPSTSS | RQVTGQPQNA | SFVKRNRWWL | LPLIAALASG | SFWFFSTPEV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ETTAVQEFQN | QMNQLKNKYQ | GQDEKLWKRS | QTFLEKHLNS | SHPRSQPAIL | LLTAARDAEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALRCLSEQIA | DAYSSFRSVR | AIRIDGTDKA | TQDSDTVKLE | VDQELSNGFK | NGQNAAVVHR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FESFPAGSTL | IFYKYCDHEN | AAFKDVALVL | TVLLEEETLG | TSLGLKEVEE | KVRDFLKVKF |
| 550 | 560 | 570 | 580 | ||
| TNSNTPNSYN | HMDPDKLNGL | WSRISHLVLP | VQPENALKRG | ICL |