WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355288C>A | CA387549007 | SACS | c.1324G>T (p.Gly442Ter) n.1462G>T c.1315G>T (p.Gly439Ter) n.3681G>T c.-927G>T (n.-927G>T) c.196G>T (p.Gly66Ter) c.1022G>T c.883G>T (p.Gly295Ter) c.1348G>T (p.Gly450Ter) | |
| 13 | g.23355288C>G | CA387549008 | SACS | c.1324G>C (p.Gly442Arg) n.1462G>C c.1315G>C (p.Gly439Arg) n.3681G>C c.-927G>C (n.-927G>C) c.196G>C (p.Gly66Arg) c.1022G>C c.883G>C (p.Gly295Arg) c.1348G>C (p.Gly450Arg) | |
| 13 | g.23355288C>T | CA387549011 | SACS | c.1324G>A (p.Gly442Arg) n.1462G>A c.1315G>A (p.Gly439Arg) n.3681G>A c.-927G>A (n.-927G>A) c.196G>A (p.Gly66Arg) c.1022G>A c.883G>A (p.Gly295Arg) c.1348G>A (p.Gly450Arg) | |
| 13 | g.23355289T>A | CA483164393 | SACS | c.1323A>T (p.Ser441=) n.1461A>T c.1314A>T (p.Ser438=) n.3680A>T c.-928A>T (n.-928A>T) c.195A>T (p.Ser65=) c.1021A>T c.882A>T (p.Ser294=) c.1347A>T (p.Ser449=) | |
| 13 | g.23355289T>C | CA483164395 | SACS | c.1323A>G (p.Ser441=) n.1461A>G c.1314A>G (p.Ser438=) n.3680A>G c.-928A>G (n.-928A>G) c.195A>G (p.Ser65=) c.1021A>G c.882A>G (p.Ser294=) c.1347A>G (p.Ser449=) | |
| 13 | g.23355289T>G | CA483164394 | SACS | c.1323A>C (p.Ser441=) n.1461A>C c.1314A>C (p.Ser438=) n.3680A>C c.-928A>C (n.-928A>C) c.195A>C (p.Ser65=) c.1021A>C c.882A>C (p.Ser294=) c.1347A>C (p.Ser449=) | |
| 13 | g.23355290G>A | CA6911926 | SACS | c.1322C>T (p.Ser441Leu) n.1460C>T c.1313C>T (p.Ser438Leu) n.3679C>T c.-929C>T (n.-929C>T) c.194C>T (p.Ser65Leu) c.1020C>T c.881C>T (p.Ser294Leu) c.1346C>T (p.Ser449Leu) | dbSNP ExAC gnomAD v2 |
| 13 | g.23355290G>C | CA387549013 | SACS | c.1322C>G (p.Ser441Ter) n.1460C>G c.1313C>G (p.Ser438Ter) n.3679C>G c.-929C>G (n.-929C>G) c.194C>G (p.Ser65Ter) c.1020C>G c.881C>G (p.Ser294Ter) c.1346C>G (p.Ser449Ter) | |
| 13 | g.23355290G= | CA2078658465 | SACS | c.1322C= (p.Ser441=) n.1460C= c.1313C= (p.Ser438=) n.3679C= c.-929C= (n.-929C=) c.194C= (p.Ser65=) c.1020C= c.881C= (p.Ser294=) c.1346C= (p.Ser449=) | |
| 13 | g.23355290G>T | CA387549014 | SACS | c.1322C>A (p.Ser441Ter) n.1460C>A c.1313C>A (p.Ser438Ter) n.3679C>A c.-929C>A (n.-929C>A) c.194C>A (p.Ser65Ter) c.1020C>A c.881C>A (p.Ser294Ter) c.1346C>A (p.Ser449Ter) | |
| 13 | g.23355291A= | CA2078658467 | SACS | c.1321T= (p.Ser441=) n.1459T= c.1312T= (p.Ser438=) n.3678T= c.-930T= (n.-930T=) c.193T= (p.Ser65=) c.1019T= c.880T= (p.Ser294=) c.1345T= (p.Ser449=) | |
| 13 | g.23355291A>C | CA387549027 | SACS | c.1321T>G (p.Ser441Ala) n.1459T>G c.1312T>G (p.Ser438Ala) n.3678T>G c.-930T>G (n.-930T>G) c.193T>G (p.Ser65Ala) c.1019T>G c.880T>G (p.Ser294Ala) c.1345T>G (p.Ser449Ala) | |
| 13 | g.23355291A>G | CA387549018 | SACS | c.1321T>C (p.Ser441Pro) n.1459T>C c.1312T>C (p.Ser438Pro) n.3678T>C c.-930T>C (n.-930T>C) c.193T>C (p.Ser65Pro) c.1019T>C c.880T>C (p.Ser294Pro) c.1345T>C (p.Ser449Pro) | dbSNP |
| 13 | g.23355291A>T | CA387549015 | SACS | c.1321T>A (p.Ser441Thr) n.1459T>A c.1312T>A (p.Ser438Thr) n.3678T>A c.-930T>A (n.-930T>A) c.193T>A (p.Ser65Thr) c.1019T>A c.880T>A (p.Ser294Thr) c.1345T>A (p.Ser449Thr) | |
| 13 | g.23355292G>A | CA6911927 | SACS | c.1320C>T (p.Phe440=) n.1458C>T c.1311C>T (p.Phe437=) n.3677C>T c.-931C>T (n.-931C>T) c.192C>T (p.Phe64=) c.1018C>T c.879C>T (p.Phe293=) c.1344C>T (p.Phe448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355292G>C | CA387549028 | SACS | c.1320C>G (p.Phe440Leu) n.1458C>G c.1311C>G (p.Phe437Leu) n.3677C>G c.-931C>G (n.-931C>G) c.192C>G (p.Phe64Leu) c.1018C>G c.879C>G (p.Phe293Leu) c.1344C>G (p.Phe448Leu) | |
| 13 | g.23355292G= | CA2078658470 | SACS | c.1320C= (p.Phe440=) n.1458C= c.1311C= (p.Phe437=) n.3677C= c.-931C= (n.-931C=) c.192C= (p.Phe64=) c.1018C= c.879C= (p.Phe293=) c.1344C= (p.Phe448=) | |
| 13 | g.23355292G>T | CA387549029 | SACS | c.1320C>A (p.Phe440Leu) n.1458C>A c.1311C>A (p.Phe437Leu) n.3677C>A c.-931C>A (n.-931C>A) c.192C>A (p.Phe64Leu) c.1018C>A c.879C>A (p.Phe293Leu) c.1344C>A (p.Phe448Leu) | COSMIC |
| 13 | g.23355293A= | CA2078658471 | SACS | c.1319T= (p.Phe440=) n.1457T= c.1310T= (p.Phe437=) n.3676T= c.-932T= (n.-932T=) c.191T= (p.Phe64=) c.1017T= c.878T= (p.Phe293=) c.1343T= (p.Phe448=) | |
| 13 | g.23355293A>C | CA387549032 | SACS | c.1319T>G (p.Phe440Cys) n.1457T>G c.1310T>G (p.Phe437Cys) n.3676T>G c.-932T>G (n.-932T>G) c.191T>G (p.Phe64Cys) c.1017T>G c.878T>G (p.Phe293Cys) c.1343T>G (p.Phe448Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355293A>G | CA387549033 | SACS | c.1319T>C (p.Phe440Ser) n.1457T>C c.1310T>C (p.Phe437Ser) n.3676T>C c.-932T>C (n.-932T>C) c.191T>C (p.Phe64Ser) c.1017T>C c.878T>C (p.Phe293Ser) c.1343T>C (p.Phe448Ser) | |
| 13 | g.23355293A>T | CA387549036 | SACS | c.1319T>A (p.Phe440Tyr) n.1457T>A c.1310T>A (p.Phe437Tyr) n.3676T>A c.-932T>A (n.-932T>A) c.191T>A (p.Phe64Tyr) c.1017T>A c.878T>A (p.Phe293Tyr) c.1343T>A (p.Phe448Tyr) | |
| 13 | g.23355294A>C | CA387549040 | SACS | c.1318T>G (p.Phe440Val) n.1456T>G c.1309T>G (p.Phe437Val) n.3675T>G c.-933T>G (n.-933T>G) c.190T>G (p.Phe64Val) c.1016T>G c.877T>G (p.Phe293Val) c.1342T>G (p.Phe448Val) | |
| 13 | g.23355294A>G | CA387549045 | SACS | c.1318T>C (p.Phe440Leu) n.1456T>C c.1309T>C (p.Phe437Leu) n.3675T>C c.-933T>C (n.-933T>C) c.190T>C (p.Phe64Leu) c.1016T>C c.877T>C (p.Phe293Leu) c.1342T>C (p.Phe448Leu) | |
| 13 | g.23355294A>T | CA387549041 | SACS | c.1318T>A (p.Phe440Ile) n.1456T>A c.1309T>A (p.Phe437Ile) n.3675T>A c.-933T>A (n.-933T>A) c.190T>A (p.Phe64Ile) c.1016T>A c.877T>A (p.Phe293Ile) c.1342T>A (p.Phe448Ile) | |
| 13 | g.23355295A>C | CA387549047 | SACS | c.1317T>G (p.Asp439Glu) n.1455T>G c.1308T>G (p.Asp436Glu) n.3674T>G c.-934T>G (n.-934T>G) c.189T>G (p.Asp63Glu) c.1015T>G c.876T>G (p.Asp292Glu) c.1341T>G (p.Asp447Glu) | |
| 13 | g.23355295A>G | CA483164407 | SACS | c.1317T>C (p.Asp439=) n.1455T>C c.1308T>C (p.Asp436=) n.3674T>C c.-934T>C (n.-934T>C) c.189T>C (p.Asp63=) c.1015T>C c.876T>C (p.Asp292=) c.1341T>C (p.Asp447=) | |
| 13 | g.23355295A>T | CA387549049 | SACS | c.1317T>A (p.Asp439Glu) n.1455T>A c.1308T>A (p.Asp436Glu) n.3674T>A c.-934T>A (n.-934T>A) c.189T>A (p.Asp63Glu) c.1015T>A c.876T>A (p.Asp292Glu) c.1341T>A (p.Asp447Glu) | |
| 13 | g.23355296T>A | CA387549053 | SACS | c.1316A>T (p.Asp439Val) n.1454A>T c.1307A>T (p.Asp436Val) n.3673A>T c.-935A>T (n.-935A>T) c.188A>T (p.Asp63Val) c.1014A>T c.875A>T (p.Asp292Val) c.1340A>T (p.Asp447Val) | |
| 13 | g.23355296T>C | CA387549055 | SACS | c.1316A>G (p.Asp439Gly) n.1454A>G c.1307A>G (p.Asp436Gly) n.3673A>G c.-935A>G (n.-935A>G) c.188A>G (p.Asp63Gly) c.1014A>G c.875A>G (p.Asp292Gly) c.1340A>G (p.Asp447Gly) | dbSNP |
| 13 | g.23355296T>G | CA387549058 | SACS | c.1316A>C (p.Asp439Ala) n.1454A>C c.1307A>C (p.Asp436Ala) n.3673A>C c.-935A>C (n.-935A>C) c.188A>C (p.Asp63Ala) c.1014A>C c.875A>C (p.Asp292Ala) c.1340A>C (p.Asp447Ala) | |
| 13 | g.23355296T= | CA2078658474 | SACS | c.1316A= (p.Asp439=) n.1454A= c.1307A= (p.Asp436=) n.3673A= c.-935A= (n.-935A=) c.188A= (p.Asp63=) c.1014A= c.875A= (p.Asp292=) c.1340A= (p.Asp447=) | |
| 13 | g.23355297C>A | CA6911928 | SACS | c.1315G>T (p.Asp439Tyr) n.1453G>T c.1306G>T (p.Asp436Tyr) n.3672G>T c.-936G>T (n.-936G>T) c.187G>T (p.Asp63Tyr) c.1013G>T c.874G>T (p.Asp292Tyr) c.1339G>T (p.Asp447Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355297C= | CA2078658477 | SACS | c.1315G= (p.Asp439=) n.1453G= c.1306G= (p.Asp436=) n.3672G= c.-936G= (n.-936G=) c.187G= (p.Asp63=) c.1013G= c.874G= (p.Asp292=) c.1339G= (p.Asp447=) | |
| 13 | g.23355297C>G | CA387549063 | SACS | c.1315G>C (p.Asp439His) n.1453G>C c.1306G>C (p.Asp436His) n.3672G>C c.-936G>C (n.-936G>C) c.187G>C (p.Asp63His) c.1013G>C c.874G>C (p.Asp292His) c.1339G>C (p.Asp447His) | gnomAD v4 |
| 13 | g.23355297C>T | CA387549067 | SACS | c.1315G>A (p.Asp439Asn) n.1453G>A c.1306G>A (p.Asp436Asn) n.3672G>A c.-936G>A (n.-936G>A) c.187G>A (p.Asp63Asn) c.1013G>A c.874G>A (p.Asp292Asn) c.1339G>A (p.Asp447Asn) | gnomAD v4 |
| 13 | g.23355298A>C | CA483164416 | SACS | c.1314T>G (p.Ser438=) n.1452T>G c.1305T>G (p.Ser435=) n.3671T>G c.-937T>G (n.-937T>G) c.186T>G (p.Ser62=) c.1012T>G c.873T>G (p.Ser291=) c.1338T>G (p.Ser446=) | |
| 13 | g.23355298A>G | CA483164415 | SACS | c.1314T>C (p.Ser438=) n.1452T>C c.1305T>C (p.Ser435=) n.3671T>C c.-937T>C (n.-937T>C) c.186T>C (p.Ser62=) c.1012T>C c.873T>C (p.Ser291=) c.1338T>C (p.Ser446=) | |
| 13 | g.23355298A>T | CA483164414 | SACS | c.1314T>A (p.Ser438=) n.1452T>A c.1305T>A (p.Ser435=) n.3671T>A c.-937T>A (n.-937T>A) c.186T>A (p.Ser62=) c.1012T>A c.873T>A (p.Ser291=) c.1338T>A (p.Ser446=) | |
| 13 | g.23355299G>A | CA387549071 | SACS | c.1313C>T (p.Ser438Phe) n.1451C>T c.1304C>T (p.Ser435Phe) n.3670C>T c.-938C>T (n.-938C>T) c.185C>T (p.Ser62Phe) c.1011C>T c.872C>T (p.Ser291Phe) c.1337C>T (p.Ser446Phe) | |
| 13 | g.23355299G>C | CA387549073 | SACS | c.1313C>G (p.Ser438Cys) n.1451C>G c.1304C>G (p.Ser435Cys) n.3670C>G c.-938C>G (n.-938C>G) c.185C>G (p.Ser62Cys) c.1011C>G c.872C>G (p.Ser291Cys) c.1337C>G (p.Ser446Cys) | |
| 13 | g.23355299G>T | CA387549076 | SACS | c.1313C>A (p.Ser438Tyr) n.1451C>A c.1304C>A (p.Ser435Tyr) n.3670C>A c.-938C>A (n.-938C>A) c.185C>A (p.Ser62Tyr) c.1011C>A c.872C>A (p.Ser291Tyr) c.1337C>A (p.Ser446Tyr) | |
| 13 | g.23355300A>C | CA387549078 | SACS | c.1312T>G (p.Ser438Ala) n.1450T>G c.1303T>G (p.Ser435Ala) n.3669T>G c.-939T>G (n.-939T>G) c.184T>G (p.Ser62Ala) c.1010T>G c.871T>G (p.Ser291Ala) c.1336T>G (p.Ser446Ala) | |
| 13 | g.23355300A>G | CA387549084 | SACS | c.1312T>C (p.Ser438Pro) n.1450T>C c.1303T>C (p.Ser435Pro) n.3669T>C c.-939T>C (n.-939T>C) c.184T>C (p.Ser62Pro) c.1010T>C c.871T>C (p.Ser291Pro) c.1336T>C (p.Ser446Pro) | |
| 13 | g.23355300A>T | CA387549081 | SACS | c.1312T>A (p.Ser438Thr) n.1450T>A c.1303T>A (p.Ser435Thr) n.3669T>A c.-939T>A (n.-939T>A) c.184T>A (p.Ser62Thr) c.1010T>A c.871T>A (p.Ser291Thr) c.1336T>A (p.Ser446Thr) | gnomAD v4 |
| 13 | g.23355301C>A | CA6911930 | SACS | c.1311G>T (p.Thr437=) n.1449G>T c.1302G>T (p.Thr434=) n.3668G>T c.-940G>T (n.-940G>T) c.183G>T (p.Thr61=) c.1009G>T c.870G>T (p.Thr290=) c.1335G>T (p.Thr445=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355301C= | CA2078658481 | SACS | c.1311G= (p.Thr437=) n.1449G= c.1302G= (p.Thr434=) n.3668G= c.-940G= (n.-940G=) c.183G= (p.Thr61=) c.1009G= c.870G= (p.Thr290=) c.1335G= (p.Thr445=) | |
| 13 | g.23355301C>G | CA483164421 | SACS | c.1311G>C (p.Thr437=) n.1449G>C c.1302G>C (p.Thr434=) n.3668G>C c.-940G>C (n.-940G>C) c.183G>C (p.Thr61=) c.1009G>C c.870G>C (p.Thr290=) c.1335G>C (p.Thr445=) | |
| 13 | g.23355301C>T | CA6911929 | SACS | c.1311G>A (p.Thr437=) n.1449G>A c.1302G>A (p.Thr434=) n.3668G>A c.-940G>A (n.-940G>A) c.183G>A (p.Thr61=) c.1009G>A c.870G>A (p.Thr290=) c.1335G>A (p.Thr445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355302G>A | CA6911931 | SACS | c.1310C>T (p.Thr437Met) n.1448C>T c.1301C>T (p.Thr434Met) n.3667C>T c.-941C>T (n.-941C>T) c.182C>T (p.Thr61Met) c.1008C>T c.869C>T (p.Thr290Met) c.1334C>T (p.Thr445Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |