UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70766175_70767024del | CA2697557293 | AUTS2 | c.1530_1689+690del c.-136_24+690del c.156_315+690del c.1527_1686+690del c.374_554+669del c.155_314+690del n.137_296+690del c.786_945+690del c.156_336+669del c.1530_1710+669del c.1527_1707+669del c.1239_1419+669del c.1056_1236+669del c.1029_1209+669del | ClinVar |
| 7 | g.70766233_70766256del | CA2573052912 | AUTS2 | c.1588_1611del (p.Gln530_His537del) c.-78_-55del (n.-78_-55del) c.214_237del (p.Gln72_His79del) c.1585_1608del (p.Gln529_His536del) c.432_455del c.213_236del n.195_218del c.844_867del (p.Gln282_His289del) c.1297_1320del (p.Gln433_His440del) c.1114_1137del (p.Gln372_His379del) c.1087_1110del (p.Gln363_His370del) | ClinVar dbSNP gnomAD v4 |
| 7 | g.70766228_70766258delinsAGCACCAGCACCAGCACACCCACCAGCACAC | CA1716166113 | AUTS2 | c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC (p.Gln528=) c.-83_-53delinsAGCACCAGCACCAGCACACCCACCAGCACAC (n.-83_-53delinsAGCACCAGCACCAGCACACCCACCAGCACAC) c.209_239delinsAGCACCAGCACCAGCACACCCACCAGCACAC (p.Gln70=) c.1580_1610delinsAGCACCAGCACCAGCACACCCACCAGCACAC (p.Gln527=) c.427_457delinsAGCACCAGCACCAGCACACCCACCAGCACAC c.208_238delinsAGCACCAGCACCAGCACACCCACCAGCACAC n.190_220delinsAGCACCAGCACCAGCACACCCACCAGCACAC c.839_869delinsAGCACCAGCACCAGCACACCCACCAGCACAC (p.Gln280=) c.1292_1322delinsAGCACCAGCACCAGCACACCCACCAGCACAC (p.Gln431=) c.1109_1139delinsAGCACCAGCACCAGCACACCCACCAGCACAC (p.Gln370=) c.1082_1112delinsAGCACCAGCACCAGCACACCCACCAGCACAC (p.Gln361=) | |
| 7 | g.70766239_70766268del | CA658796937 | AUTS2 | c.1594_1623del (p.Gln532_His541del) c.-72_-43del (n.-72_-43del) c.220_249del (p.Gln74_His83del) c.1591_1620del (p.Gln531_His540del) c.438_467del c.219_248del n.201_230del c.850_879del (p.Gln284_His293del) c.1303_1332del (p.Gln435_His444del) c.1120_1149del (p.Gln374_His383del) c.1093_1122del (p.Gln365_His374del) | ClinVar dbSNP |
| 7 | g.70766239_70766256dup | CA2683160782 | AUTS2 | c.1594_1611dup (p.His537_Thr538insGlnHisThrHisGlnHis) c.-72_-55dup (n.-72_-55dup) c.220_237dup (p.His79_Thr80insGlnHisThrHisGlnHis) c.1591_1608dup (p.His536_Thr537insGlnHisThrHisGlnHis) c.438_455dup c.219_236dup n.201_218dup c.850_867dup (p.His289_Thr290insGlnHisThrHisGlnHis) c.1303_1320dup (p.His440_Thr441insGlnHisThrHisGlnHis) c.1120_1137dup (p.His379_Thr380insGlnHisThrHisGlnHis) c.1093_1110dup (p.His370_Thr371insGlnHisThrHisGlnHis) | gnomAD v4 |
| 7 | g.70766234_70766258delinsAGCACCAGCACACCCACCAGCACAC | CA1716166127 | AUTS2 | c.1589_1613delinsAGCACCAGCACACCCACCAGCACAC (p.Gln530=) c.-77_-53delinsAGCACCAGCACACCCACCAGCACAC (n.-77_-53delinsAGCACCAGCACACCCACCAGCACAC) c.215_239delinsAGCACCAGCACACCCACCAGCACAC (p.Gln72=) c.1586_1610delinsAGCACCAGCACACCCACCAGCACAC (p.Gln529=) c.1_25delinsAGCACCAGCACACCCACCAGCACAC c.433_457delinsAGCACCAGCACACCCACCAGCACAC c.214_238delinsAGCACCAGCACACCCACCAGCACAC n.196_220delinsAGCACCAGCACACCCACCAGCACAC c.845_869delinsAGCACCAGCACACCCACCAGCACAC (p.Gln282=) c.1298_1322delinsAGCACCAGCACACCCACCAGCACAC (p.Gln433=) c.1115_1139delinsAGCACCAGCACACCCACCAGCACAC (p.Gln372=) c.1088_1112delinsAGCACCAGCACACCCACCAGCACAC (p.Gln363=) | |
| 7 | g.70766248_70766271del | CA1102748067 | AUTS2 | c.1603_1626del (p.His535_Thr542del) c.-63_-40del (n.-63_-40del) c.229_252del (p.His77_Thr84del) c.1600_1623del (p.His534_Thr541del) c.15_38del c.447_470del c.228_251del n.210_233del c.859_882del (p.His287_Thr294del) c.1312_1335del (p.His438_Thr445del) c.1129_1152del (p.His377_Thr384del) c.1102_1125del (p.His368_Thr375del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.70766247_70766258dup | CA2578902191 | AUTS2 | c.1602_1613dup (p.Thr538_His539insHisGlnHisThr) c.-64_-53dup (n.-64_-53dup) c.228_239dup (p.Thr80_His81insHisGlnHisThr) c.1599_1610dup (p.Thr537_His538insHisGlnHisThr) c.14_25dup c.446_457dup c.227_238dup n.209_220dup c.858_869dup (p.Thr290_His291insHisGlnHisThr) c.1311_1322dup (p.Thr441_His442insHisGlnHisThr) c.1128_1139dup (p.Thr380_His381insHisGlnHisThr) c.1101_1112dup (p.Thr371_His372insHisGlnHisThr) | gnomAD v4 |
| 7 | g.70766247_70766258del | CA1716166134 | AUTS2 | c.1602_1613del (p.His535_Thr538del) c.-64_-53del (n.-64_-53del) c.228_239del (p.His77_Thr80del) c.1599_1610del (p.His534_Thr537del) c.14_25del c.446_457del c.227_238del n.209_220del c.858_869del (p.His287_Thr290del) c.1311_1322del (p.His438_Thr441del) c.1128_1139del (p.His377_Thr380del) c.1101_1112del (p.His368_Thr371del) | dbSNP gnomAD v4 |
| 7 | g.70766259_70766270dup | CA2683160783 | AUTS2 | c.1614_1625dup (p.Thr542_Phe543insHisGlnHisThr) c.-52_-41dup (n.-52_-41dup) c.240_251dup (p.Thr84_Phe85insHisGlnHisThr) c.1611_1622dup (p.Thr541_Phe542insHisGlnHisThr) c.26_37dup c.458_469dup c.239_250dup n.221_232dup c.870_881dup (p.Thr294_Phe295insHisGlnHisThr) c.1323_1334dup (p.Thr445_Phe446insHisGlnHisThr) c.1140_1151dup (p.Thr384_Phe385insHisGlnHisThr) c.1113_1124dup (p.Thr375_Phe376insHisGlnHisThr) | gnomAD v4 |
| 7 | g.70766259_70766270del | CA2580077348 | AUTS2 | c.1614_1625del (p.His539_Thr542del) c.-52_-41del (n.-52_-41del) c.240_251del (p.His81_Thr84del) c.1611_1622del (p.His538_Thr541del) c.26_37del c.458_469del c.239_250del n.221_232del c.870_881del (p.His291_Thr294del) c.1323_1334del (p.His442_Thr445del) c.1140_1151del (p.His381_Thr384del) c.1113_1124del (p.His372_Thr375del) | ClinVar gnomAD v4 |
| 7 | g.70766250C>A | CA367668942 | AUTS2 | c.1605C>A (p.His535Gln) c.-61C>A (n.-61C>A) c.231C>A (p.His77Gln) c.1602C>A (p.His534Gln) c.17C>A c.449C>A c.230C>A n.212C>A c.861C>A (p.His287Gln) c.1314C>A (p.His438Gln) c.1131C>A (p.His377Gln) c.1104C>A (p.His368Gln) | |
| 7 | g.70766250C= | CA1716166160 | AUTS2 | c.1605C= (p.His535=) c.-61C= (n.-61C=) c.231C= (p.His77=) c.1602C= (p.His534=) c.17C= c.449C= c.230C= n.212C= c.861C= (p.His287=) c.1314C= (p.His438=) c.1131C= (p.His377=) c.1104C= (p.His368=) | |
| 7 | g.70766250C>G | CA16043617 | AUTS2 | c.1605C>G (p.His535Gln) c.-61C>G (n.-61C>G) c.231C>G (p.His77Gln) c.1602C>G (p.His534Gln) c.17C>G c.449C>G c.230C>G n.212C>G c.861C>G (p.His287Gln) c.1314C>G (p.His438Gln) c.1131C>G (p.His377Gln) c.1104C>G (p.His368Gln) | ClinVar dbSNP |
| 7 | g.70766250C>T | CA455802351 | AUTS2 | c.1605C>T (p.His535=) c.-61C>T (n.-61C>T) c.231C>T (p.His77=) c.1602C>T (p.His534=) c.17C>T c.449C>T c.230C>T n.212C>T c.861C>T (p.His287=) c.1314C>T (p.His438=) c.1131C>T (p.His377=) c.1104C>T (p.His368=) | gnomAD v4 |
| 7 | g.70766251C>A | CA367668943 | AUTS2 | c.1606C>A (p.Gln536Lys) c.-60C>A (n.-60C>A) c.232C>A (p.Gln78Lys) c.1603C>A (p.Gln535Lys) c.18C>A c.450C>A c.231C>A n.213C>A c.862C>A (p.Gln288Lys) c.1315C>A (p.Gln439Lys) c.1132C>A (p.Gln378Lys) c.1105C>A (p.Gln369Lys) | COSMIC |
| 7 | g.70766251C>G | CA367668945 | AUTS2 | c.1606C>G (p.Gln536Glu) c.-60C>G (n.-60C>G) c.232C>G (p.Gln78Glu) c.1603C>G (p.Gln535Glu) c.18C>G c.450C>G c.231C>G n.213C>G c.862C>G (p.Gln288Glu) c.1315C>G (p.Gln439Glu) c.1132C>G (p.Gln378Glu) c.1105C>G (p.Gln369Glu) | |
| 7 | g.70766251C>T | CA367668944 | AUTS2 | c.1606C>T (p.Gln536Ter) c.-60C>T (n.-60C>T) c.232C>T (p.Gln78Ter) c.1603C>T (p.Gln535Ter) c.18C>T c.450C>T c.231C>T n.213C>T c.862C>T (p.Gln288Ter) c.1315C>T (p.Gln439Ter) c.1132C>T (p.Gln378Ter) c.1105C>T (p.Gln369Ter) | |
| 7 | g.70766252A>C | CA367668946 | AUTS2 | c.1607A>C (p.Gln536Pro) c.-59A>C (n.-59A>C) c.233A>C (p.Gln78Pro) c.1604A>C (p.Gln535Pro) c.19A>C c.451A>C c.232A>C n.214A>C c.863A>C (p.Gln288Pro) c.1316A>C (p.Gln439Pro) c.1133A>C (p.Gln378Pro) c.1106A>C (p.Gln369Pro) | |
| 7 | g.70766252A>G | CA367668947 | AUTS2 | c.1607A>G (p.Gln536Arg) c.-59A>G (n.-59A>G) c.233A>G (p.Gln78Arg) c.1604A>G (p.Gln535Arg) c.19A>G c.451A>G c.232A>G n.214A>G c.863A>G (p.Gln288Arg) c.1316A>G (p.Gln439Arg) c.1133A>G (p.Gln378Arg) c.1106A>G (p.Gln369Arg) | |
| 7 | g.70766252A>T | CA367668948 | AUTS2 | c.1607A>T (p.Gln536Leu) c.-59A>T (n.-59A>T) c.233A>T (p.Gln78Leu) c.1604A>T (p.Gln535Leu) c.19A>T c.451A>T c.232A>T n.214A>T c.863A>T (p.Gln288Leu) c.1316A>T (p.Gln439Leu) c.1133A>T (p.Gln378Leu) c.1106A>T (p.Gln369Leu) | |
| 7 | g.70766253G>A | CA455802361 | AUTS2 | c.1608G>A (p.Gln536=) c.-58G>A (n.-58G>A) c.234G>A (p.Gln78=) c.1605G>A (p.Gln535=) c.20G>A c.452G>A c.233G>A n.215G>A c.864G>A (p.Gln288=) c.1317G>A (p.Gln439=) c.1134G>A (p.Gln378=) c.1107G>A (p.Gln369=) | dbSNP |
| 7 | g.70766253G>C | CA367668949 | AUTS2 | c.1608G>C (p.Gln536His) c.-58G>C (n.-58G>C) c.234G>C (p.Gln78His) c.1605G>C (p.Gln535His) c.20G>C c.452G>C c.233G>C n.215G>C c.864G>C (p.Gln288His) c.1317G>C (p.Gln439His) c.1134G>C (p.Gln378His) c.1107G>C (p.Gln369His) | |
| 7 | g.70766253G= | CA1716166162 | AUTS2 | c.1608G= (p.Gln536=) c.-58G= (n.-58G=) c.234G= (p.Gln78=) c.1605G= (p.Gln535=) c.20G= c.452G= c.233G= n.215G= c.864G= (p.Gln288=) c.1317G= (p.Gln439=) c.1134G= (p.Gln378=) c.1107G= (p.Gln369=) | |
| 7 | g.70766253G>T | CA367668950 | AUTS2 | c.1608G>T (p.Gln536His) c.-58G>T (n.-58G>T) c.234G>T (p.Gln78His) c.1605G>T (p.Gln535His) c.20G>T c.452G>T c.233G>T n.215G>T c.864G>T (p.Gln288His) c.1317G>T (p.Gln439His) c.1134G>T (p.Gln378His) c.1107G>T (p.Gln369His) | |
| 7 | g.70766254C>A | CA367668951 | AUTS2 | c.1609C>A (p.His537Asn) c.-57C>A (n.-57C>A) c.235C>A (p.His79Asn) c.1606C>A (p.His536Asn) c.21C>A c.453C>A c.234C>A n.216C>A c.865C>A (p.His289Asn) c.1318C>A (p.His440Asn) c.1135C>A (p.His379Asn) c.1108C>A (p.His370Asn) | |
| 7 | g.70766254C>G | CA367668952 | AUTS2 | c.1609C>G (p.His537Asp) c.-57C>G (n.-57C>G) c.235C>G (p.His79Asp) c.1606C>G (p.His536Asp) c.21C>G c.453C>G c.234C>G n.216C>G c.865C>G (p.His289Asp) c.1318C>G (p.His440Asp) c.1135C>G (p.His379Asp) c.1108C>G (p.His370Asp) | |
| 7 | g.70766254C>T | CA367668953 | AUTS2 | c.1609C>T (p.His537Tyr) c.-57C>T (n.-57C>T) c.235C>T (p.His79Tyr) c.1606C>T (p.His536Tyr) c.21C>T c.453C>T c.234C>T n.216C>T c.865C>T (p.His289Tyr) c.1318C>T (p.His440Tyr) c.1135C>T (p.His379Tyr) c.1108C>T (p.His370Tyr) | |
| 7 | g.70766255A>C | CA367668954 | AUTS2 | c.1610A>C (p.His537Pro) c.-56A>C (n.-56A>C) c.236A>C (p.His79Pro) c.1607A>C (p.His536Pro) c.22A>C c.454A>C c.235A>C n.217A>C c.866A>C (p.His289Pro) c.1319A>C (p.His440Pro) c.1136A>C (p.His379Pro) c.1109A>C (p.His370Pro) | ClinVar dbSNP |
| 7 | g.70766255A>G | CA367668955 | AUTS2 | c.1610A>G (p.His537Arg) c.-56A>G (n.-56A>G) c.236A>G (p.His79Arg) c.1607A>G (p.His536Arg) c.22A>G c.454A>G c.235A>G n.217A>G c.866A>G (p.His289Arg) c.1319A>G (p.His440Arg) c.1136A>G (p.His379Arg) c.1109A>G (p.His370Arg) | |
| 7 | g.70766255A>T | CA367668956 | AUTS2 | c.1610A>T (p.His537Leu) c.-56A>T (n.-56A>T) c.236A>T (p.His79Leu) c.1607A>T (p.His536Leu) c.22A>T c.454A>T c.235A>T n.217A>T c.866A>T (p.His289Leu) c.1319A>T (p.His440Leu) c.1136A>T (p.His379Leu) c.1109A>T (p.His370Leu) | |
| 7 | g.70766256C>A | CA367668957 | AUTS2 | c.1611C>A (p.His537Gln) c.-55C>A (n.-55C>A) c.237C>A (p.His79Gln) c.1608C>A (p.His536Gln) c.23C>A c.455C>A c.236C>A n.218C>A c.867C>A (p.His289Gln) c.1320C>A (p.His440Gln) c.1137C>A (p.His379Gln) c.1110C>A (p.His370Gln) | ClinVar dbSNP |
| 7 | g.70766256C= | CA1716166165 | AUTS2 | c.1611C= (p.His537=) c.-55C= (n.-55C=) c.237C= (p.His79=) c.1608C= (p.His536=) c.23C= c.455C= c.236C= n.218C= c.867C= (p.His289=) c.1320C= (p.His440=) c.1137C= (p.His379=) c.1110C= (p.His370=) | |
| 7 | g.70766256C>G | CA367668958 | AUTS2 | c.1611C>G (p.His537Gln) c.-55C>G (n.-55C>G) c.237C>G (p.His79Gln) c.1608C>G (p.His536Gln) c.23C>G c.455C>G c.236C>G n.218C>G c.867C>G (p.His289Gln) c.1320C>G (p.His440Gln) c.1137C>G (p.His379Gln) c.1110C>G (p.His370Gln) | |
| 7 | g.70766256C>T | CA455802373 | AUTS2 | c.1611C>T (p.His537=) c.-55C>T (n.-55C>T) c.237C>T (p.His79=) c.1608C>T (p.His536=) c.23C>T c.455C>T c.236C>T n.218C>T c.867C>T (p.His289=) c.1320C>T (p.His440=) c.1137C>T (p.His379=) c.1110C>T (p.His370=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.70766256dup | CA645562314 | AUTS2 | c.1611dup (p.Thr538HisfsTer28) c.-55dup (n.-55dup) c.237dup (p.Thr80HisfsTer?) c.237dup (p.Thr80HisfsTer28) c.1608dup (p.Thr537HisfsTer28) c.23dup c.455dup c.236dup n.218dup c.867dup (p.Thr290HisfsTer28) c.1611dup (p.Thr538HisfsTer?) c.1608dup (p.Thr537HisfsTer?) c.1320dup (p.Thr441HisfsTer?) c.1137dup (p.Thr380HisfsTer?) c.1110dup (p.Thr371HisfsTer?) | COSMIC |
| 7 | g.70766257A>C | CA367668959 | AUTS2 | c.1612A>C (p.Thr538Pro) c.-54A>C (n.-54A>C) c.238A>C (p.Thr80Pro) c.1609A>C (p.Thr537Pro) c.24A>C c.456A>C c.237A>C n.219A>C c.868A>C (p.Thr290Pro) c.1321A>C (p.Thr441Pro) c.1138A>C (p.Thr380Pro) c.1111A>C (p.Thr371Pro) | |
| 7 | g.70766257A>G | CA367668961 | AUTS2 | c.1612A>G (p.Thr538Ala) c.-54A>G (n.-54A>G) c.238A>G (p.Thr80Ala) c.1609A>G (p.Thr537Ala) c.24A>G c.456A>G c.237A>G n.219A>G c.868A>G (p.Thr290Ala) c.1321A>G (p.Thr441Ala) c.1138A>G (p.Thr380Ala) c.1111A>G (p.Thr371Ala) | |
| 7 | g.70766257A>T | CA367668960 | AUTS2 | c.1612A>T (p.Thr538Ser) c.-54A>T (n.-54A>T) c.238A>T (p.Thr80Ser) c.1609A>T (p.Thr537Ser) c.24A>T c.456A>T c.237A>T n.219A>T c.868A>T (p.Thr290Ser) c.1321A>T (p.Thr441Ser) c.1138A>T (p.Thr380Ser) c.1111A>T (p.Thr371Ser) | |
| 7 | g.70766258C>A | CA367668962 | AUTS2 | c.1613C>A (p.Thr538Lys) c.-53C>A (n.-53C>A) c.239C>A (p.Thr80Lys) c.1610C>A (p.Thr537Lys) c.25C>A c.457C>A c.238C>A n.220C>A c.869C>A (p.Thr290Lys) c.1322C>A (p.Thr441Lys) c.1139C>A (p.Thr380Lys) c.1112C>A (p.Thr371Lys) | |
| 7 | g.70766258C= | CA1716166166 | AUTS2 | c.1613C= (p.Thr538=) c.-53C= (n.-53C=) c.239C= (p.Thr80=) c.1610C= (p.Thr537=) c.25C= c.457C= c.238C= n.220C= c.869C= (p.Thr290=) c.1322C= (p.Thr441=) c.1139C= (p.Thr380=) c.1112C= (p.Thr371=) | |
| 7 | g.70766258C>G | CA367668963 | AUTS2 | c.1613C>G (p.Thr538Arg) c.-53C>G (n.-53C>G) c.239C>G (p.Thr80Arg) c.1610C>G (p.Thr537Arg) c.25C>G c.457C>G c.238C>G n.220C>G c.869C>G (p.Thr290Arg) c.1322C>G (p.Thr441Arg) c.1139C>G (p.Thr380Arg) c.1112C>G (p.Thr371Arg) | |
| 7 | g.70766258C>T | CA367668964 | AUTS2 | c.1613C>T (p.Thr538Met) c.-53C>T (n.-53C>T) c.239C>T (p.Thr80Met) c.1610C>T (p.Thr537Met) c.25C>T c.457C>T c.238C>T n.220C>T c.869C>T (p.Thr290Met) c.1322C>T (p.Thr441Met) c.1139C>T (p.Thr380Met) c.1112C>T (p.Thr371Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.70766259G>A | CA455802380 | AUTS2 | c.1614G>A (p.Thr538=) c.-52G>A (n.-52G>A) c.240G>A (p.Thr80=) c.1611G>A (p.Thr537=) c.26G>A c.458G>A c.239G>A n.221G>A c.870G>A (p.Thr290=) c.1323G>A (p.Thr441=) c.1140G>A (p.Thr380=) c.1113G>A (p.Thr371=) | gnomAD v4 COSMIC |
| 7 | g.70766259G>C | CA455802382 | AUTS2 | c.1614G>C (p.Thr538=) c.-52G>C (n.-52G>C) c.240G>C (p.Thr80=) c.1611G>C (p.Thr537=) c.26G>C c.458G>C c.239G>C n.221G>C c.870G>C (p.Thr290=) c.1323G>C (p.Thr441=) c.1140G>C (p.Thr380=) c.1113G>C (p.Thr371=) | |
| 7 | g.70766259G>T | CA455802384 | AUTS2 | c.1614G>T (p.Thr538=) c.-52G>T (n.-52G>T) c.240G>T (p.Thr80=) c.1611G>T (p.Thr537=) c.26G>T c.458G>T c.239G>T n.221G>T c.870G>T (p.Thr290=) c.1323G>T (p.Thr441=) c.1140G>T (p.Thr380=) c.1113G>T (p.Thr371=) | |
| 7 | g.70766260C>A | CA367668965 | AUTS2 | c.1615C>A (p.His539Asn) c.-51C>A (n.-51C>A) c.241C>A (p.His81Asn) c.1612C>A (p.His538Asn) c.27C>A c.459C>A c.240C>A n.222C>A c.871C>A (p.His291Asn) c.1324C>A (p.His442Asn) c.1141C>A (p.His381Asn) c.1114C>A (p.His372Asn) | |
| 7 | g.70766260C= | CA1716166167 | AUTS2 | c.1615C= (p.His539=) c.-51C= (n.-51C=) c.241C= (p.His81=) c.1612C= (p.His538=) c.27C= c.459C= c.240C= n.222C= c.871C= (p.His291=) c.1324C= (p.His442=) c.1141C= (p.His381=) c.1114C= (p.His372=) | |
| 7 | g.70766260C>G | CA367668966 | AUTS2 | c.1615C>G (p.His539Asp) c.-51C>G (n.-51C>G) c.241C>G (p.His81Asp) c.1612C>G (p.His538Asp) c.27C>G c.459C>G c.240C>G n.222C>G c.871C>G (p.His291Asp) c.1324C>G (p.His442Asp) c.1141C>G (p.His381Asp) c.1114C>G (p.His372Asp) | |
| 7 | g.70766260C>T | CA367668967 | AUTS2 | c.1615C>T (p.His539Tyr) c.-51C>T (n.-51C>T) c.241C>T (p.His81Tyr) c.1612C>T (p.His538Tyr) c.27C>T c.459C>T c.240C>T n.222C>T c.871C>T (p.His291Tyr) c.1324C>T (p.His442Tyr) c.1141C>T (p.His381Tyr) c.1114C>T (p.His372Tyr) | dbSNP gnomAD v3 gnomAD v4 |