Q9UJS0
PR
Gene name |
SLC25A13 |
Protein name |
Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial |
Names |
Calcium-binding mitochondrial carrier protein Aralar2, ARALAR-related gene 2, ARALAR2, Citrin, Mitochondrial aspartate glutamate carrier 2, Solute carrier family 25 member 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10165 |
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 Q9UJS0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4P5W | X-ray | 240 A | PDB | ||
| AF-Q9UJS0-F1 | Predicted | AlphaFoldDB |
590 variants for Q9UJS0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003155104 RCV000724177 rs541276426 RCV001272105 RCV000536292 RCV002470789 RCV001163311 RCV001331839 RCV000987931 |
1 | M>T | Late-onset citrullinemia Citrullinemia type I Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1798494534 RCV001220580 |
27 | I>V | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319385 CA368406666 rs1447976736 |
36 | S>C | Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001832490 rs1798490375 RCV002508285 RCV001053667 |
45 | L>F | Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001272333 rs753950441 RCV000705713 RCV000730178 CA4353375 |
53 | P>L | Late-onset citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000732446 rs577901657 RCV002536480 RCV001578818 RCV001578817 CA4353368 |
62 | S>N | Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs747592860 CA4353367 RCV002536424 RCV000729188 |
65 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766809778 RCV001834041 RCV001235171 CA4353284 |
111 | D>G | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1795574966 RCV001279375 |
118 | Q>P | Late-onset citrullinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001833772 rs1269555090 CA368406888 RCV001202155 |
139 | G>R | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1131697 VAR_050126 CA4353275 RCV000316803 RCV000259312 RCV002523606 |
141 | E>K | Citrullinemia type I Citrullinemia type II Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000732959 rs146131228 CA4353269 RCV001244769 RCV001825477 |
152 | T>A | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA368263522 rs1562831765 RCV000721964 |
165 | Q>* | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000239388 rs879255504 |
166 | A>missing | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs111674765 RCV001161793 CA4353241 |
170 | R>W | Citrullinemia type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000815004 COSM1093392 rs80338716 RCV000020705 CA342159 RCV002496428 RCV001546734 RCV001831590 |
184 | R>* | endometrium Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1482630982 RCV001040084 |
191 | R>missing | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000597163 COSM1193500 rs199744651 RCV001161792 CA4353226 |
191 | R>C | lung Variant assessed as Somatic; 0.0 impact. Citrullinemia type II [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1794918929 RCV001220237 |
204 | V>* | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707394 rs1562831497 CA368263261 |
205 | A>V | Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137944390 CA4353204 RCV000733897 RCV001161790 |
212 | S>F | Variant assessed as Somatic; 0.0 impact. Citrullinemia type II [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001247797 RCV001826423 RCV000006372 CA340498 rs80338719 RCV001004531 |
225 | S>* | Citrullinemia type II Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004530 rs1584433525 |
234 | R>missing | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA162995645 RCV001161788 rs986941373 COSM453617 |
234 | R>T | Citrullinemia type II breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs746155190 CA10586126 RCV000239387 RCV001854929 |
259 | Q>* | Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000730946 RCV002233738 CA4353156 RCV001158571 RCV001497957 rs531991442 |
264 | V>I | Citrullinemia type II Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000822312 rs544756381 CA4353149 RCV001825664 |
283 | G>E | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000239614 RCV001272102 RCV000006368 RCV000344746 rs80338720 RCV002259321 RCV002503835 RCV000724667 |
285 | M>missing | Late-onset citrullinemia Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535391 rs375472754 CA162994085 RCV000734738 |
292 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000730338 rs142308242 COSM453616 CA4353113 RCV001830607 RCV001244437 |
292 | R>W | Variant assessed as Somatic; 0.0 impact. Citrullinemia breast Citrin deficiency [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA368262071 RCV001868986 RCV000733364 rs1365501165 |
306 | A>T | Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA162994062 RCV001827396 RCV001062379 rs922613966 |
308 | A>T | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16042703 RCV000556924 RCV001828382 RCV000412829 rs763191789 |
319 | R>* | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000796684 rs764401478 |
327 | E>missing | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA162991771 RCV002535180 rs1001025380 RCV000730942 |
330 | Y>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001061179 rs1312396424 RCV001832548 CA368260334 |
350 | D>N | Variant assessed as Somatic; 0.0 impact. Citrullinemia Citrin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000806593 RCV001834681 RCV000779547 rs758827458 RCV000523426 CA4353042 |
355 | R>* | Variant assessed as Somatic; 0.0 impact. Citrullinemia type II Citrullinemia Citrin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA266749 RCV000077782 rs398122839 RCV000404137 RCV000292034 RCV001854367 |
355 | R>Q | Variant assessed as Somatic; 0.0 impact. Citrullinemia type II Citrullinemia type I Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001058684 CA342148 RCV001262833 rs80338721 RCV001272101 RCV002259307 |
360 | R>* | Late-onset citrullinemia Citrullinemia type II Citrullinemia, type II, adult-onset Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4353038 RCV001272331 RCV000292722 RCV000350029 RCV002519511 rs35996658 RCV001095144 |
363 | G>V | Late-onset citrullinemia Citrullinemia type I Citrullinemia type II Inborn genetic diseases Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1584422832 RCV001004529 |
374 | S>missing | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342333 rs983514448 RCV000729053 RCV001825451 CA16622027 |
383 | R>C | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001348248 rs1197228945 |
384 | Y>F | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279374 CA4353030 rs574856683 |
390 | L>Q | Late-onset citrullinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001067356 CA162986038 rs1004549438 |
399 | L>* | Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001004528 CA4352983 rs768922690 |
411 | V>M | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs553863381 RCV000714831 RCV000735189 CA4352976 RCV001862007 RCV000714832 |
423 | D>N | Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000314735 rs886062526 RCV000348596 CA10629696 |
438 | A>V | Citrullinemia type II Citrullinemia type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4352955 rs200237622 RCV001004527 |
446 | T>P | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4352952 rs143877538 RCV001277321 RCV001084376 COSM1453051 RCV000731811 RCV001526420 RCV000791115 |
452 | V>I | Late-onset citrullinemia large_intestine Citrullinemia type II Citrullinemia, type II, adult-onset Citrin deficiency [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000791562 rs1178306013 |
459 | A>missing | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000404811 RCV000335940 rs372216502 CA4352941 |
465 | G>C | Variant assessed as Somatic; 0.0 impact. Citrullinemia type II Citrullinemia type I [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002508296 RCV001833833 RCV001208433 RCV001312129 rs540149539 CA4352940 |
467 | R>* | Variant assessed as Somatic; 0.0 impact. Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001578820 RCV001241944 CA4352929 RCV002246229 rs554809009 RCV001835116 RCV001578819 |
474 | V>M | Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV001232042 rs1792801432 |
483 | Y>* | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001163201 rs139149160 CA4352889 RCV000239389 RCV000595565 RCV002057271 |
502 | P>L | Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs763244253 CA368259480 RCV001825871 RCV001341638 |
516 | G>E | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs80338724 RCV000020699 CA342150 RCV001826486 RCV001378585 |
531 | G>D | Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001829680 CA4352843 rs75622628 RCV000799559 RCV000593343 |
540 | P>S | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003165748 RCV000271654 CA4352841 rs754054414 RCV002519259 |
544 | I>T | Inborn genetic diseases Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001833784 CA4352837 rs548769905 RCV003155369 RCV001203153 |
546 | T>M | Citrullinemia Citrullinemia type II Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781077173 RCV001244771 RCV001829937 |
552 | A>missing | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201283753 RCV002535315 RCV000733184 RCV001163200 CA4352831 |
553 | R>Q | Citrullinemia type II Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002259302 RCV001004526 rs80338725 RCV000006371 RCV000726889 RCV000822371 |
554 | A>missing | Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001832476 CA162992548 rs774907889 RCV001051939 |
554 | A>T | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1562774655 RCV000721963 |
556 | Q>missing | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000592650 CA4352819 rs142801864 RCV002532472 |
561 | G>R | Variant assessed as Somatic; 0.0 impact. Citrin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554335461 RCV000543573 |
571 | R>missing | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4352787 RCV001316092 RCV000596178 rs367770143 RCV001834902 |
585 | R>H | Citrullinemia Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1261058897 CA368257912 RCV000823111 |
588 | R>* | Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA253676 RCV000006376 RCV001267011 RCV002508184 RCV001831517 RCV000728351 rs121908532 |
588 | R>Q | Variant assessed as Somatic; 0.0 impact. Citrullinemia Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000006374 RCV001060497 RCV000006375 RCV001831516 rs80338726 |
600 | Y>* | Citrullinemia type II Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342155 rs80338727 RCV001217432 RCV000020703 |
601 | E>* | Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA342154 RCV001067856 RCV000020702 rs80338727 VAR_016601 |
601 | E>K | Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency NICCD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000020704 RCV002513147 RCV002496427 rs80338729 CA342157 RCV000254826 |
605 | R>* | Variant assessed as Somatic; 0.0 impact. Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002532428 RCV002497259 rs548194276 RCV000591483 CA4352776 |
605 | R>Q | Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4352775 rs754713031 RCV001163198 |
608 | Y>C | Citrullinemia type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001322624 rs1791512056 |
611 | F>missing | Citrin deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000764738 CA312978 RCV000381101 RCV000726730 RCV000270533 RCV001277319 rs148962110 RCV001095246 |
637 | V>A | Late-onset citrullinemia Citrullinemia type II Citrullinemia type I Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000779546 rs1562773708 |
639 | G>missing | Citrullinemia type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000271327 RCV000328760 RCV000593765 rs757317844 RCV001277318 CA4352738 RCV003168565 RCV001095212 |
649 | G>R | Late-onset citrullinemia Citrullinemia type II Citrullinemia type I Inborn genetic diseases Citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10586124 rs879255501 RCV000239382 |
653 | K>R | Neonatal intrahepatic cholestasis due to citrin deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000729106 rs541276426 |
1 | M>K | No |
ClinVar dbSNP |
|
|
CA368408153 rs919111709 |
2 | A>P | No |
ClinGen gnomAD |
|
|
CA163524565 rs919111709 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs1186505567 CA368408138 |
4 | A>D | No |
ClinGen gnomAD |
|
|
CA368407970 rs1223102191 |
9 | T>A | No |
ClinGen TOPMed |
|
|
CA4353419 rs766641322 |
10 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755872035 CA163521937 |
11 | R>K | No |
ClinGen Ensembl |
|
|
CA4353418 rs762899051 |
12 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773343761 CA4353417 |
14 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4353416 rs768418425 |
14 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368407909 rs768418425 |
14 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771894421 CA368407874 |
17 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771894421 CA4353413 |
17 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4353412 rs745497684 |
20 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368407837 rs1251109528 |
20 | I>V | No |
ClinGen TOPMed |
|
|
CA368406752 rs1311945646 |
24 | Y>* | No |
ClinGen gnomAD |
|
|
rs772019460 CA4353391 |
24 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190338678 CA368406755 |
24 | Y>S | No |
ClinGen Ensembl |
|
|
rs1363947528 CA368406748 |
25 | A>E | No |
ClinGen gnomAD |
|
|
rs759288496 CA4353390 |
25 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774203119 CA4353389 |
27 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4353387 rs749030455 |
29 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 29 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1562897434 | 30 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458486694 CA368406711 |
30 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368406704 rs1162734848 |
31 | G>D | No |
ClinGen gnomAD |
|
|
rs1367925406 CA368406706 |
31 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368406707 rs1367925406 |
31 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4353383 rs781747984 |
35 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA163519725 rs534452813 |
35 | M>V | No |
ClinGen Ensembl |
|
|
CA4353382 rs755544504 |
37 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751912314 CA4353381 |
38 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA163519723 rs1034307418 |
38 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1218711814 CA368406635 |
41 | V>F | No |
ClinGen gnomAD |
|
|
rs780525233 CA4353380 |
43 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368406622 rs1298239580 |
43 | R>L | No |
ClinGen gnomAD |
|
|
rs866181710 CA163519722 |
45 | L>S | No |
ClinGen Ensembl |
|
|
rs1227402010 CA368406611 |
45 | L>V | No |
ClinGen gnomAD |
|
|
rs934356075 CA163519721 |
46 | N>S | No |
ClinGen Ensembl |
|
|
rs368174754 CA4353379 |
48 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4353378 rs750698657 |
49 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs142803277 CA4353377 |
52 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753950441 CA4353376 |
53 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759484573 CA4353373 |
54 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168438073 CA368406537 |
56 | K>R | No |
ClinGen gnomAD |
|
|
CA368406524 rs1397231627 |
58 | V>A | No |
ClinGen gnomAD |
|
|
rs774007506 CA4353372 |
58 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762486181 CA4353370 |
59 | E>G | No |
ClinGen ExAC |
|
|
rs543029000 CA4353371 |
59 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs111822068 CA163519719 |
62 | S>G | No |
ClinGen Ensembl |
|
|
CA368406474 rs1275280896 |
66 | D>G | No |
ClinGen gnomAD |
|
|
rs1204291892 CA368406468 |
67 | Q>* | No |
ClinGen gnomAD |
|
|
rs148573021 CA4353366 |
68 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163519718 rs567369040 |
69 | K>E | No |
ClinGen Ensembl |
|
|
CA163519717 rs984553488 |
69 | K>T | No |
ClinGen Ensembl |
|
|
CA368406451 rs1203960771 |
70 | D>N | No |
ClinGen TOPMed |
|
|
rs769271204 CA4353365 |
71 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA163515240 rs982544955 |
75 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1093394 CA368408384 rs1254503252 |
77 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs949620020 CA163515239 |
77 | E>A | No |
ClinGen TOPMed |
|
|
CA368408372 rs1330055233 |
78 | F>C | No |
ClinGen gnomAD |
|
|
rs1241397849 CA368408376 |
78 | F>L | No |
ClinGen gnomAD |
|
|
CA4353353 rs754907957 |
79 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs754907957 CA4353354 RCV000322079 |
79 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA368408369 rs754907957 |
79 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs971195484 CA163515238 |
80 | A>V | No |
ClinGen gnomAD |
|
|
CA4353352 rs751559996 |
84 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368408332 rs1468238505 |
85 | L>P | No |
ClinGen TOPMed |
|
|
rs1395822995 CA368408325 |
86 | C>Y | No |
ClinGen gnomAD |
|
|
rs543960516 CA4353350 |
87 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4353349 rs764922613 |
88 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764922613 CA4353348 |
88 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4353347 rs761613642 |
90 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255457734 CA368408277 |
93 | M>I | No |
ClinGen gnomAD |
|
|
CA368408283 rs1562865955 |
93 | M>V | No |
ClinGen Ensembl |
|
|
rs144837288 CA4353346 |
94 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163515236 rs202010157 |
95 | A>D | No |
ClinGen 1000Genomes |
|
|
CA4353345 rs768319437 |
95 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs202010157 CA163515235 |
95 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1408470924 CA368408263 |
96 | F>S | No |
ClinGen TOPMed |
|
|
CA4353344 rs747451386 |
101 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1188104960 CA368408217 |
103 | G>S | No |
ClinGen gnomAD |
|
|
CA368407081 rs1349801909 |
111 | D>E | No |
ClinGen gnomAD |
|
|
rs1484791948 CA368407068 |
113 | K>N | No |
ClinGen TOPMed |
|
|
rs763505667 CA4353283 |
113 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163512373 rs944044304 |
115 | V>A | No |
ClinGen TOPMed |
|
|
CA368407056 rs1449979787 |
115 | V>I | No |
ClinGen gnomAD |
|
|
rs370370192 CA4353282 |
117 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4353281 rs180944633 |
119 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368407028 rs1415071995 |
119 | T>I | No |
ClinGen Ensembl |
|
|
CA368407027 RCV000728485 rs1242971055 |
120 | T>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1414446682 CA368407020 |
121 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149862016 CA4353280 |
123 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368406995 rs1472269685 |
124 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1286033175 CA368406977 |
126 | P>L | No |
ClinGen TOPMed |
|
|
CA368406972 rs1410422014 |
127 | F>C | No |
ClinGen gnomAD |
|
|
CA4353279 rs776667392 |
130 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483802203 CA368406920 |
134 | V>L | No |
ClinGen gnomAD |
|
|
rs768953296 CA4353278 |
135 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368406900 rs1445542904 |
137 | H>P | No |
ClinGen gnomAD |
|
|
rs1212931650 CA368406867 |
142 | R>G | No |
ClinGen TOPMed |
|
|
CA4353274 COSM109900 rs148329449 |
142 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4353273 rs534989975 |
143 | K>I | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA368406841 rs1283437336 |
145 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs748000430 CA4353271 |
145 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368406825 rs1562844227 |
148 | Y>C | No |
ClinGen Ensembl |
|
|
rs766541414 CA163512371 |
149 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751052385 CA4353268 |
152 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368406787 rs1161532634 |
154 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368263565 rs1457898764 |
158 | I>L | No |
ClinGen TOPMed |
|
|
CA4353248 rs185718615 |
159 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA162997018 rs1046890184 |
161 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368263548 rs1046890184 |
161 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4353245 rs757853711 |
163 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA162996996 rs554663995 |
163 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4353246 RCV000732860 rs554663995 |
163 | A>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1488490423 CA368263504 |
167 | F>S | No |
ClinGen gnomAD |
|
|
CA4353244 rs749978956 |
168 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4353243 rs779220022 |
169 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1335300195 CA368263492 |
169 | Q>R | No |
ClinGen TOPMed |
|
|
CA4353238 rs373362761 |
170 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373362761 CA4353239 |
170 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4353237 rs767877590 |
171 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227362615 CA368263482 |
171 | D>V | No |
ClinGen TOPMed |
|
|
CA368263469 rs1387446179 |
173 | A>S | No |
ClinGen gnomAD |
|
|
CA368263452 rs1584436096 |
176 | G>R | No |
ClinGen Ensembl |
|
|
rs768500587 CA4353231 |
179 | T>A | No |
ClinGen ExAC |
|
|
rs1371696093 CA368263426 |
180 | A>S | No |
ClinGen gnomAD |
|
|
rs1371696093 CA368263427 |
180 | A>T | No |
ClinGen gnomAD |
|
|
rs982465273 CA162996910 |
181 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779617287 CA4353229 |
182 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142427515 CA4353228 |
184 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA162996880 rs1023832555 |
186 | I>V | No |
ClinGen Ensembl |
|
|
CA368263359 rs1301130297 |
190 | I>T | No |
ClinGen gnomAD |
|
|
rs376257669 CA4353225 COSM453618 |
191 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1204184163 CA368263348 |
192 | P>L | No |
ClinGen gnomAD |
|
|
rs778267843 CA4353224 |
192 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA368263342 rs1562831553 |
193 | H>L | No |
ClinGen Ensembl |
|
|
CA368263344 rs1562831553 |
193 | H>P | No |
ClinGen Ensembl |
|
|
CA368263340 rs1562831551 |
193 | H>Q | No |
ClinGen Ensembl |
|
|
CA368263343 rs1562831553 |
193 | H>R | No |
ClinGen Ensembl |
|
|
CA368263345 rs1258015318 |
193 | H>Y | No |
ClinGen gnomAD |
|
|
rs369939105 CA4353221 |
194 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376378314 CA368263274 |
203 | L>P | No |
ClinGen TOPMed |
|
|
CA368263269 rs1303970601 |
204 | V>E | No |
ClinGen TOPMed |
|
|
rs1230292890 CA368263272 |
204 | V>I | No |
ClinGen gnomAD |
|
|
CA368263233 rs1313959905 |
208 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | T>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368263216 rs1404908764 |
211 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368263190 rs1458386100 |
215 | V>I | No |
ClinGen gnomAD |
|
|
rs756716537 CA4353203 |
216 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1468590679 CA368263174 COSM168497 |
217 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1021270782 CA162995719 |
217 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368263169 rs1187998958 |
218 | S>C | No |
ClinGen gnomAD |
|
|
rs748471758 CA4353202 |
218 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781721358 CA4353201 |
219 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs755154931 CA4353200 |
220 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4353199 rs751869317 |
222 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901769469 CA162995681 |
224 | N>S | No |
ClinGen TOPMed |
|
|
COSM1093390 CA4353197 rs80338719 |
225 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4353194 rs775234166 |
228 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368263101 rs1344515450 |
229 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4353192 rs767411822 |
230 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773995033 CA4353191 CA4353190 |
231 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_050127 CA162995654 rs10255762 |
232 | L>I | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 233 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770492749 CA4353189 |
236 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs932337576 CA162995629 |
236 | I>T | No |
ClinGen TOPMed |
|
|
rs748764269 CA4353188 |
237 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4353187 rs772867693 |
238 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA368263006 rs1317486094 |
244 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749488819 CA162995573 |
244 | R>S | No |
ClinGen Ensembl |
|
|
rs748735749 CA4353185 |
245 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs781400809 CA4353184 |
248 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4353183 rs755315210 |
251 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA162995545 rs973986984 |
252 | E>K | No |
ClinGen Ensembl |
|
|
rs1262935827 CA368262927 |
253 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA368262917 rs1562828859 |
255 | V>F | No |
ClinGen Ensembl |
|
|
CA368262911 rs1374265963 |
256 | L>V | No |
ClinGen TOPMed |
|
|
CA368262902 rs1346663327 |
257 | A>E | No |
ClinGen gnomAD |
|
|
rs1040738959 CA162994544 |
258 | A>D | No |
ClinGen TOPMed |
|
|
CA368262900 rs1283437896 |
258 | A>P | No |
ClinGen gnomAD |
|
|
CA4353159 rs746155190 |
259 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs778949203 CA4353158 |
259 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343571487 CA368262895 |
259 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1343571487 CA368262894 |
259 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 260 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368262891 rs1306797079 |
260 | K>Q | No |
ClinGen TOPMed |
|
|
CA162994520 rs201756776 |
260 | K>R | No |
ClinGen 1000Genomes |
|
|
rs187852403 CA4353157 |
263 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781140919 CA4353155 |
267 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1416436295 RCV000591360 CA368262804 |
267 | M>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA368262811 rs1257616897 |
267 | M>V | No |
ClinGen gnomAD |
|
|
CA4353154 rs754890303 |
269 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751343245 CA4353153 |
270 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866862786 CA162994491 |
272 | L>F | No |
ClinGen Ensembl |
|
|
rs1554349496 RCV000597078 CA368262707 |
273 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1437726460 CA368262648 |
276 | A>G | No |
ClinGen TOPMed |
|
|
CA368262655 rs1562828692 |
276 | A>T | No |
ClinGen Ensembl |
|
|
rs750041862 CA4353150 |
277 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368262586 rs1470043854 |
280 | E>K | No |
ClinGen gnomAD |
|
|
rs774717064 CA4353117 |
284 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM198822 RCV000733095 rs771117913 CA4353116 |
284 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA368262417 rs771117913 |
284 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442466379 CA368262412 |
285 | M>V | No |
ClinGen gnomAD |
|
|
rs1186605949 CA368262366 |
287 | L>S | No |
ClinGen gnomAD |
|
|
rs148206472 CA4353115 |
288 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA162994092 rs148206472 |
288 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143181462 CA4353114 COSM3781337 |
290 | I>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4353112 rs748268201 |
293 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4353111 rs780101587 |
294 | A>V | No |
ClinGen ExAC |
|
|
CA4353108 rs778893487 |
295 | P>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000595570 CA162994071 rs934057158 |
295 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA4353109 rs778893487 |
295 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763820287 CA4353105 |
299 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA368262129 rs1222814269 |
302 | P>L | No |
ClinGen TOPMed |
|
|
CA368262021 rs1431951130 |
309 | Q>* | No |
ClinGen gnomAD |
|
|
rs755512817 CA4353104 |
310 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs752281398 CA4353103 |
311 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs755469215 CA4353084 |
313 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1479782034 CA368260796 |
314 | S>L | No |
ClinGen gnomAD |
|
|
rs1195001372 CA368260802 |
314 | S>P | No |
ClinGen gnomAD |
|
|
rs766917149 CA4353082 |
316 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4353081 rs763191789 |
319 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA162991797 COSM381612 rs771449632 |
319 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4353080 COSM1187366 rs771449632 |
319 | R>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA368260745 rs771449632 |
319 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313302489 CA368260744 |
320 | P>S | No |
ClinGen TOPMed |
|
|
rs1245168311 CA368260725 |
321 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1269863258 CA368260723 |
322 | L>I | No |
ClinGen TOPMed |
|
|
rs1012084121 CA162991788 |
324 | Q>* | No |
ClinGen TOPMed |
|
|
rs768915439 CA4353076 |
327 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484296612 COSM1093388 CA368260635 |
328 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA368260631 rs1251699185 |
329 | A>T | No |
ClinGen TOPMed |
|
|
CA4353073 rs534585904 |
330 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA368260615 rs1173609446 |
330 | Y>C | No |
ClinGen gnomAD |
|
|
CA4353072 rs770931172 |
333 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4353069 rs769297213 |
334 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4353070 rs769297213 |
334 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747861059 CA4353068 |
336 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4353050 rs769683303 |
341 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1181103496 CA368260391 |
345 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368260386 rs1409498730 |
345 | A>V | No |
ClinGen TOPMed |
|
|
rs1293035262 CA368260384 |
346 | V>M | No |
ClinGen gnomAD |
|
|
CA368260347 rs780785774 |
349 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4353048 rs780785774 |
349 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746502556 CA4353046 |
351 | L>I | No |
ClinGen ExAC |
|
| TCGA novel | 351 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554348063 CA4353044 |
352 | V>L | No |
ClinGen Ensembl |
|
|
CA162991477 rs932315701 |
354 | T>S | No |
ClinGen gnomAD |
|
|
rs758827458 CA368260298 |
355 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs398122839 CA4353041 |
355 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1367363461 CA368260275 |
358 | N>S | No |
ClinGen gnomAD |
|
|
CA162991456 rs918547530 |
360 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs576650917 CA4353039 |
362 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1240257910 CA368260230 |
366 | V>M | No |
ClinGen TOPMed |
|
|
rs767699888 CA4353036 |
370 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4353037 rs142386709 |
370 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368260169 rs1270149011 |
374 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1198225307 CA368260148 |
377 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 378 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA162991427 rs941194099 |
378 | F>Y | No |
ClinGen Ensembl |
|
|
rs200427603 CA162991421 |
379 | K>M | No |
ClinGen 1000Genomes TOPMed |
|
|
rs200427603 CA162991424 |
379 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA368260120 rs1204373018 |
381 | V>M | No |
ClinGen TOPMed |
|
|
CA162991415 rs949468946 COSM1093386 |
383 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA368260107 rs949468946 |
383 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368260101 rs1197228945 |
384 | Y>C | No |
ClinGen gnomAD |
|
|
rs776461118 CA368260087 |
386 | G>A | No |
ClinGen ExAC TOPMed |
|
|
CA4353033 rs761550839 |
386 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs761550839 CA4353032 |
386 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776461118 CA4353031 COSM351681 |
386 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA4353027 rs762925301 |
391 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4353028 rs774850623 |
391 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368260047 RCV000727669 rs1562823061 |
393 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs760401530 CA4353012 |
396 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368259137 rs1178150756 |
397 | Q>R | No |
ClinGen gnomAD |
|
|
CA4353011 rs2301629 |
398 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1004549438 CA368259125 |
399 | L>S | No |
ClinGen gnomAD |
|
|
rs1462361448 CA368259116 |
400 | G>A | No |
ClinGen gnomAD |
|
|
rs1462361448 CA368259117 |
400 | G>E | No |
ClinGen gnomAD |
|
|
rs1243282367 CA368259115 |
401 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369195484 CA4353007 |
407 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768922690 CA368258916 |
411 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352981 rs780268583 |
413 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA4352980 rs758406317 |
415 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368258780 rs1421663575 |
418 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750535328 CA4352979 |
420 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA162985497 rs140440047 |
421 | H>P | No |
ClinGen ESP TOPMed |
|
|
rs1562811865 CA368258736 |
421 | H>Y | No |
ClinGen Ensembl |
|
|
rs1584404286 CA368258687 |
423 | D>G | No |
ClinGen Ensembl |
|
|
rs553863381 CA4352977 |
423 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866770831 CA162985483 |
424 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1403481477 COSM167933 CA368258646 |
425 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs891287563 CA162985477 |
427 | P>S | No |
ClinGen TOPMed |
|
|
CA4352974 rs759211846 |
428 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751195180 CA4352973 |
428 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1389667048 CA368258568 |
429 | A>T | No |
ClinGen TOPMed |
|
|
rs766130485 CA4352972 |
432 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368258451 rs1299281015 |
434 | A>P | No |
ClinGen gnomAD |
|
|
CA368258404 rs1309471492 |
436 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA368258379 rs151256859 |
437 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4352971 rs151256859 |
437 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1224721746 CA368256184 |
439 | G>R | No |
ClinGen gnomAD |
|
|
rs781202495 CA4352957 RCV000598190 |
441 | S>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1163667385 CA368256174 |
441 | S>T | No |
ClinGen TOPMed |
|
|
CA368256161 rs1485527456 |
443 | V>M | No |
ClinGen gnomAD |
|
|
rs1240410598 CA368256136 |
446 | T>I | No |
ClinGen gnomAD |
|
|
CA4352954 rs766077420 |
447 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352953 rs758167270 |
450 | E>* | No |
ClinGen ExAC |
|
|
rs764716490 CA4352951 |
453 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA368256087 rs1470301449 |
454 | I>F | No |
ClinGen gnomAD |
|
|
rs1470301449 CA368256088 |
454 | I>V | No |
ClinGen gnomAD |
|
|
rs761402505 CA4352950 |
455 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000354470 rs764693182 CA4352948 |
455 | R>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs764693182 CA368256080 |
455 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs764693182 CA4352949 |
455 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA368256071 rs1246720248 |
457 | Q>E | No |
ClinGen TOPMed |
|
|
CA368256044 rs1218598501 |
461 | E>* | No |
ClinGen TOPMed |
|
|
rs746153244 CA4352944 |
463 | T>N | No |
ClinGen ExAC |
|
|
rs774476574 CA4352943 |
464 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs540149539 CA368256010 |
467 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM748402 rs754985592 CA4352939 |
467 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA368256009 rs754985592 |
467 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352937 rs746775592 |
470 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1183612224 CA368255989 |
470 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs749990010 CA4352935 |
472 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs749990010 CA4352934 |
472 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA368255970 rs1584370761 |
474 | V>G | No |
ClinGen Ensembl |
|
|
CA4352930 rs554809009 |
474 | V>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs764488086 CA4352927 |
475 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000731952 CA4352928 rs753411740 |
475 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA368255962 rs1584370709 |
476 | D>G | No |
ClinGen Ensembl |
|
|
CA368255966 rs1382123303 |
476 | D>H | No |
ClinGen gnomAD |
|
|
rs1584370695 CA368255945 |
479 | F>V | No |
ClinGen Ensembl |
|
|
CA4352924 rs759905821 |
480 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 481 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879014162 CA162968738 |
482 | I>F | No |
ClinGen Ensembl |
|
|
CA4352923 rs774369510 |
482 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771211154 CA162968705 |
484 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000734948 rs367988218 CA162968725 |
484 | K>R | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs1205021954 CA368260009 |
488 | A>T | No |
ClinGen Ensembl |
|
|
CA4352899 rs766485284 |
489 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4352896 rs769939259 |
492 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769939259 CA4352897 RCV000732895 |
492 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4352898 rs763272772 |
492 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 493 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398034425 CA368259972 |
494 | I>V | No |
ClinGen gnomAD |
|
|
rs761992118 CA4352895 |
495 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761992118 CA368259966 |
495 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368259950 rs1487481217 |
497 | S>L | No |
ClinGen TOPMed |
|
|
CA4352892 rs772157920 |
499 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA368259940 rs1388764303 |
499 | I>V | No |
ClinGen gnomAD |
|
|
rs186863471 CA4352890 |
502 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs186863471 CA368259918 |
502 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs777414201 CA4352887 |
504 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 505 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 505 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366153075 CA368259586 |
506 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 506 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11558671 CA162999943 |
507 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4352886 rs11558671 |
507 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs963663111 CA162999928 |
509 | A>S | No |
ClinGen gnomAD |
|
|
rs963663111 CA368259559 |
509 | A>T | No |
ClinGen gnomAD |
|
|
CA4352885 rs752235032 |
512 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751836823 CA4352882 |
513 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352883 rs369962634 |
513 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766827198 CA4352881 |
515 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763244253 CA4352880 |
516 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352878 rs765591535 |
517 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs139455686 CA4352876 |
523 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs961627223 CA162999879 |
527 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 527 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368259355 rs1168611497 |
528 | A>T | No |
ClinGen gnomAD |
|
|
rs375405382 CA4352874 |
529 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772104865 CA4352875 |
529 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005040991 CA162999847 |
530 | A>T | No |
ClinGen Ensembl |
|
|
CA368259322 rs1172380150 |
531 | G>S | No |
ClinGen gnomAD |
|
|
rs202144038 CA162992656 |
532 | M>I | No |
ClinGen Ensembl |
|
|
rs1299204427 CA368258638 |
533 | P>S | No |
ClinGen gnomAD |
|
|
rs1166815730 CA368258604 |
535 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4352846 rs780566134 |
538 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA368258563 rs746535755 CA4352847 |
538 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4352845 rs746205031 |
539 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4352844 rs746205031 |
539 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA368258531 rs1490786240 |
540 | P>R | No |
ClinGen TOPMed |
|
|
rs1223013904 CA368258500 |
542 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 542 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562774778 RCV000729060 |
544 | I>missing | No |
ClinVar dbSNP |
|
|
CA4352840 rs544174452 |
544 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4352838 rs548769905 |
546 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364726997 CA368258369 |
549 | Q>* | No |
ClinGen gnomAD |
|
|
CA368258346 rs1279345818 |
550 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367948961 CA4352835 |
552 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1093384 CA162992579 rs911394585 |
552 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA368258312 rs761602352 |
553 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201283753 CA4352830 |
553 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4352832 rs761602352 |
553 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774907889 CA4352828 |
554 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772632837 CA4352827 |
555 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4352825 rs779579089 |
556 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251459939 CA368258274 RCV000730745 |
556 | Q>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs771352563 CA4352824 |
557 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4352822 rs777999410 |
558 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201168119 CA4352821 |
559 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1039282208 CA162992505 |
560 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs150082469 CA368258222 |
560 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758317710 CA4352818 |
562 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs750300786 CA4352817 |
565 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs200236841 CA4352815 |
569 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753626243 CA4352814 |
571 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352813 rs187260240 |
571 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187260240 CA368258086 COSM1725883 |
571 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA368258062 rs1309009873 |
573 | E>G | No |
ClinGen Ensembl |
|
|
CA162992471 rs1035327831 |
577 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 579 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 579 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771652951 CA4352810 |
580 | K>R | No |
ClinGen ExAC |
|
|
rs759119965 CA4352809 |
582 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368257988 rs759119965 |
582 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370997026 COSM1093383 CA4352788 |
585 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1258297177 CA368257936 |
586 | V>I | No |
ClinGen gnomAD |
|
|
rs1258297177 CA368257933 |
586 | V>L | No |
ClinGen gnomAD |
|
|
rs1562774326 CA368257927 |
587 | F>I | No |
ClinGen Ensembl |
|
|
CA162992369 rs1022837267 |
589 | S>Y | No |
ClinGen Ensembl |
|
|
CA368257886 rs1323174734 |
590 | S>L | No |
ClinGen TOPMed |
|
|
CA4352785 rs748548237 |
591 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368257852 rs1309491033 |
593 | F>C | No |
ClinGen gnomAD |
|
|
CA368257848 RCV000734001 rs1562774276 |
593 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776787438 CA4352784 |
593 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs373632138 CA4352783 |
594 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4352782 rs747060193 |
596 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314171694 CA368257804 |
598 | L>M | No |
ClinGen gnomAD |
|
|
CA368257798 rs1396539922 |
598 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368257792 rs1421374232 |
599 | T>A | No |
ClinGen TOPMed |
|
|
rs780179331 CA4352781 |
599 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4352779 rs765919667 |
600 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
rs1421260641 CA368257739 |
603 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA162992317 rs893906065 |
606 | W>C | No |
ClinGen Ensembl |
|
| TCGA novel | 606 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751109329 CA4352774 |
610 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1012861731 CA162992296 |
612 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA368257611 rs1423805662 |
613 | G>A | No |
ClinGen gnomAD |
|
|
rs1209952337 CA368257542 |
616 | P>L | No |
ClinGen gnomAD |
|
|
rs779855647 CA4352754 |
617 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1031896978 CA162992076 |
617 | M>V | No |
ClinGen TOPMed |
|
|
rs757805685 CA4352753 |
618 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA368257526 rs1220401209 |
619 | S>* | No |
ClinGen gnomAD |
|
|
CA368257500 rs1277395174 |
623 | P>L | No |
ClinGen gnomAD |
|
|
rs200001052 CA162992054 |
626 | R>G | No |
ClinGen 1000Genomes |
|
|
CA4352751 rs765632410 |
628 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA368257455 rs765632410 |
628 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1562773780 CA368257419 |
631 | A>V | No |
ClinGen Ensembl |
|
|
CA4352749 rs573420716 |
632 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1384070171 CA368257382 |
634 | P>H | No |
ClinGen TOPMed |
|
|
CA368257389 rs1188685330 |
634 | P>T | No |
ClinGen TOPMed |
|
|
CA368257371 rs1466662887 |
635 | D>G | No |
ClinGen gnomAD |
|
|
rs761035791 CA4352747 |
635 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151330313 CA4352745 |
637 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148962110 CA4352744 |
637 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151330313 CA4352746 |
637 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368257348 RCV000730425 rs151330313 |
637 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1562773708 | 639 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000597439 rs1554335351 CA368257319 |
639 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368257270 rs1344639277 |
643 | A>V | No |
ClinGen gnomAD |
|
|
CA368257256 rs1450621307 |
645 | A>T | No |
ClinGen gnomAD |
|
|
rs748153245 CA4352741 |
646 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA368257242 rs1157228706 COSM1093382 |
646 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs781292740 CA162992023 |
648 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs781292740 CA4352740 |
648 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768497028 CA4352739 RCV000729711 |
648 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA368257209 rs1346889630 |
650 | I>M | No |
ClinGen gnomAD |
|
|
CA4352737 rs779551695 |
654 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1232814327 CA368257141 |
656 | L>I | No |
ClinGen gnomAD |
|
|
CA368257128 rs1584332792 |
657 | Y>H | No |
ClinGen Ensembl |
|
|
rs758111197 CA4352736 |
657 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA4352735 rs749897928 |
659 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs756776797 CA4352733 |
664 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754280216 CA4352732 |
665 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA368257037 rs1451754466 |
665 | V>I | No |
ClinGen gnomAD |
|
|
CA368257035 rs1451754466 |
665 | V>L | No |
ClinGen gnomAD |
|
|
rs1403367487 CA368257016 |
667 | T>A | No |
ClinGen gnomAD |
|
|
CA162991982 rs868731868 |
668 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 669 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA162991977 rs764619502 |
670 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352731 rs764619502 |
670 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368256983 rs764619502 |
670 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760982579 CA4352730 |
671 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA368256962 rs1439809349 |
672 | G>S | No |
ClinGen gnomAD |
|
|
CA162991967 rs753105901 |
674 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4352729 rs753105901 |
674 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1562773541 CA368256924 |
675 | P>R | No |
ClinGen Ensembl |
|
|
CA4352727 rs759865234 |
676 | P>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA162991953 rs759865234 |
676 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with Q9UJS0
[MIM: 603471]: Citrullinemia 2 (CTLN2)
A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:10610724}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 605814]: Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD)
A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. {ECO:0000269|PubMed:11793471}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:10610724}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. {ECO:0000269|PubMed:11793471}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9UJS0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EF-hand domain | 87 - 122 | IPR002048 |
| repeat | Mitochondrial substrate/solute carrier | 326 - 422 | IPR018108-1 |
| repeat | Mitochondrial substrate/solute carrier | 426 - 513 | IPR018108-2 |
| repeat | Mitochondrial substrate/solute carrier | 518 - 608 | IPR018108-3 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma 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. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3-sulfino-L-alanine: proton, glutamate antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: 3-sulfino-L-alanine (cysteinesulfinate) (out) + H(+)(in) + L-glutamate(in) = 3-sulfino-L-alanine(in) + H(+)(out) + L-glutamate(out). |
| acidic amino acid transmembrane transporter activity | Enables the transfer of acidic amino acids from one side of a membrane to the other. Acidic amino acids have side chains with a negative charge at pH 7.3. |
| aspartate:glutamate, proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: H(+)(out) + L-aspartate(in) + L-glutamate(out) = H(+)(in) + L-aspartate(out) + L-glutamate(in). |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| identical protein binding | Binding to an identical protein or proteins. |
| L-aspartate transmembrane transporter activity | Enables the transfer of L-aspartate from one side of a membrane to the other. L-aspartate is the anion derived from aspartic acid. |
| L-glutamate transmembrane transporter activity | Enables the transfer of L-glutamate from one side of a membrane to the other. L-glutamate is the anion of 2-aminopentanedioic acid. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| aspartate family amino acid metabolic process | The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. |
| aspartate transmembrane transport | The process in which aspartate is transported across a lipid bilayer, from one side of a membrane to the other. |
| ATP biosynthetic process | The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cellular respiration | The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). |
| gluconeogenesis | The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. |
| L-glutamate transmembrane transport | The directed movement of L-glutamate across a membrane. |
| malate-aspartate shuttle | The process of transferring reducing equivalents from the cytosol into the mitochondria; NADH is used to synthesise malate in the cytosol; this compound is then transported into the mitochondria where it is converted to oxaloacetate using NADH, the oxaloacetate reacts with gluamate to form aspartate, and the aspartate then returns to the cytosol to complete the cycle. |
| mitochondrial transport | Transport of substances into, out of or within a mitochondrion. |
| response to calcium ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAKVALTK | RADPAELRTI | FLKYASIEKN | GEFFMSPNDF | VTRYLNIFGE | SQPNPKTVEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSGVVDQTKD | GLISFQEFVA | FESVLCAPDA | LFMVAFQLFD | KAGKGEVTFE | DVKQVFGQTT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IHQHIPFNWD | SEFVQLHFGK | ERKRHLTYAE | FTQFLLEIQL | EHAKQAFVQR | DNARTGRVTA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDFRDIMVTI | RPHVLTPFVE | ECLVAAAGGT | TSHQVSFSYF | NGFNSLLNNM | ELIRKIYSTL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AGTRKDVEVT | KEEFVLAAQK | FGQVTPMEVD | ILFQLADLYE | PRGRMTLADI | ERIAPLEEGT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LPFNLAEAQR | QKASGDSARP | VLLQVAESAY | RFGLGSVAGA | VGATAVYPID | LVKTRMQNQR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STGSFVGELM | YKNSFDCFKK | VLRYEGFFGL | YRGLLPQLLG | VAPEKAIKLT | VNDFVRDKFM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HKDGSVPLAA | EILAGGCAGG | SQVIFTNPLE | IVKIRLQVAG | EITTGPRVSA | LSVVRDLGFF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GIYKGAKACF | LRDIPFSAIY | FPCYAHVKAS | FANEDGQVSP | GSLLLAGAIA | GMPAASLVTP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ADVIKTRLQV | AARAGQTTYS | GVIDCFRKIL | REEGPKALWK | GAGARVFRSS | PQFGVTLLTY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ELLQRWFYID | FGGVKPMGSE | PVPKSRINLP | APNPDHVGGY | KLAVATFAGI | ENKFGLYLPL |
| 670 | |||||
| FKPSVSTSKA | IGGGP |