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.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 |
| 13 | g.23355302G>C | CA6911932 | SACS | c.1310C>G (p.Thr437Arg) n.1448C>G c.1301C>G (p.Thr434Arg) n.3667C>G c.-941C>G (n.-941C>G) c.182C>G (p.Thr61Arg) c.1008C>G c.869C>G (p.Thr290Arg) c.1334C>G (p.Thr445Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355302G= | CA2078658494 | SACS | c.1310C= (p.Thr437=) n.1448C= c.1301C= (p.Thr434=) n.3667C= c.-941C= (n.-941C=) c.182C= (p.Thr61=) c.1008C= c.869C= (p.Thr290=) c.1334C= (p.Thr445=) | |
| 13 | g.23355302G>T | CA387549099 | SACS | c.1310C>A (p.Thr437Lys) n.1448C>A c.1301C>A (p.Thr434Lys) n.3667C>A c.-941C>A (n.-941C>A) c.182C>A (p.Thr61Lys) c.1008C>A c.869C>A (p.Thr290Lys) c.1334C>A (p.Thr445Lys) | |
| 13 | g.23355303T>A | CA387549104 | SACS | c.1309A>T (p.Thr437Ser) n.1447A>T c.1300A>T (p.Thr434Ser) n.3666A>T c.-942A>T (n.-942A>T) c.181A>T (p.Thr61Ser) c.1007A>T c.868A>T (p.Thr290Ser) c.1333A>T (p.Thr445Ser) | |
| 13 | g.23355303T>C | CA387549106 | SACS | c.1309A>G (p.Thr437Ala) n.1447A>G c.1300A>G (p.Thr434Ala) n.3666A>G c.-942A>G (n.-942A>G) c.181A>G (p.Thr61Ala) c.1007A>G c.868A>G (p.Thr290Ala) c.1333A>G (p.Thr445Ala) | |
| 13 | g.23355303T>G | CA387549108 | SACS | c.1309A>C (p.Thr437Pro) n.1447A>C c.1300A>C (p.Thr434Pro) n.3666A>C c.-942A>C (n.-942A>C) c.181A>C (p.Thr61Pro) c.1007A>C c.868A>C (p.Thr290Pro) c.1333A>C (p.Thr445Pro) | |
| 13 | g.23355304T>A | CA483164425 | SACS | c.1308A>T (p.Ala436=) n.1446A>T c.1299A>T (p.Ala433=) n.3665A>T c.-943A>T (n.-943A>T) c.180A>T (p.Ala60=) c.1006A>T c.867A>T (p.Ala289=) c.1332A>T (p.Ala444=) | |
| 13 | g.23355304T>C | CA483164426 | SACS | c.1308A>G (p.Ala436=) n.1446A>G c.1299A>G (p.Ala433=) n.3665A>G c.-943A>G (n.-943A>G) c.180A>G (p.Ala60=) c.1006A>G c.867A>G (p.Ala289=) c.1332A>G (p.Ala444=) | |
| 13 | g.23355304T>G | CA483164427 | SACS | c.1308A>C (p.Ala436=) n.1446A>C c.1299A>C (p.Ala433=) n.3665A>C c.-943A>C (n.-943A>C) c.180A>C (p.Ala60=) c.1006A>C c.867A>C (p.Ala289=) c.1332A>C (p.Ala444=) | |
| 13 | g.23355305G>A | CA387549111 | SACS | c.1307C>T (p.Ala436Val) n.1445C>T c.1298C>T (p.Ala433Val) n.3664C>T c.-944C>T (n.-944C>T) c.179C>T (p.Ala60Val) c.1005C>T c.866C>T (p.Ala289Val) c.1331C>T (p.Ala444Val) | |
| 13 | g.23355305G>C | CA387549113 | SACS | c.1307C>G (p.Ala436Gly) n.1445C>G c.1298C>G (p.Ala433Gly) n.3664C>G c.-944C>G (n.-944C>G) c.179C>G (p.Ala60Gly) c.1005C>G c.866C>G (p.Ala289Gly) c.1331C>G (p.Ala444Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355305G= | CA2078658501 | SACS | c.1307C= (p.Ala436=) n.1445C= c.1298C= (p.Ala433=) n.3664C= c.-944C= (n.-944C=) c.179C= (p.Ala60=) c.1005C= c.866C= (p.Ala289=) c.1331C= (p.Ala444=) | |
| 13 | g.23355305G>T | CA387549118 | SACS | c.1307C>A (p.Ala436Glu) n.1445C>A c.1298C>A (p.Ala433Glu) n.3664C>A c.-944C>A (n.-944C>A) c.179C>A (p.Ala60Glu) c.1005C>A c.866C>A (p.Ala289Glu) c.1331C>A (p.Ala444Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355306C>A | CA387549123 | SACS | c.1306G>T (p.Ala436Ser) n.1444G>T c.1297G>T (p.Ala433Ser) n.3663G>T c.-945G>T (n.-945G>T) c.178G>T (p.Ala60Ser) c.1004G>T c.865G>T (p.Ala289Ser) c.1330G>T (p.Ala444Ser) | |
| 13 | g.23355306C= | CA2078658504 | SACS | c.1306G= (p.Ala436=) n.1444G= c.1297G= (p.Ala433=) n.3663G= c.-945G= (n.-945G=) c.178G= (p.Ala60=) c.1004G= c.865G= (p.Ala289=) c.1330G= (p.Ala444=) | |
| 13 | g.23355306C>G | CA387549125 | SACS | c.1306G>C (p.Ala436Pro) n.1444G>C c.1297G>C (p.Ala433Pro) n.3663G>C c.-945G>C (n.-945G>C) c.178G>C (p.Ala60Pro) c.1004G>C c.865G>C (p.Ala289Pro) c.1330G>C (p.Ala444Pro) | |
| 13 | g.23355306C>T | CA387549127 | SACS | c.1306G>A (p.Ala436Thr) n.1444G>A c.1297G>A (p.Ala433Thr) n.3663G>A c.-945G>A (n.-945G>A) c.178G>A (p.Ala60Thr) c.1004G>A c.865G>A (p.Ala289Thr) c.1330G>A (p.Ala444Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355307T>A | CA483164431 | SACS | c.1305A>T (p.Gly435=) n.1443A>T c.1296A>T (p.Gly432=) n.3662A>T c.-946A>T (n.-946A>T) c.177A>T (p.Gly59=) c.1003A>T c.864A>T (p.Gly288=) c.1329A>T (p.Gly443=) | gnomAD v4 |