Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237371911A>CCA351196982COL6A3c.3488T>G (p.Ile1163Ser)
c.4106T>G (p.Ile1369Ser)
c.2285T>G (p.Ile762Ser)
c.2885T>G (p.Ile962Ser)
c.3506T>G (p.Ile1169Ser)
c.1700T>G (p.Ile567Ser)
2g.237371911A>GCA351196986COL6A3c.3488T>C (p.Ile1163Thr)
c.4106T>C (p.Ile1369Thr)
c.2285T>C (p.Ile762Thr)
c.2885T>C (p.Ile962Thr)
c.3506T>C (p.Ile1169Thr)
c.1700T>C (p.Ile567Thr)
2g.237371911A>TCA351196984COL6A3c.3488T>A (p.Ile1163Asn)
c.4106T>A (p.Ile1369Asn)
c.2285T>A (p.Ile762Asn)
c.2885T>A (p.Ile962Asn)
c.3506T>A (p.Ile1169Asn)
c.1700T>A (p.Ile567Asn)
2g.237371912T>ACA351196987COL6A3c.3487A>T (p.Ile1163Phe)
c.4105A>T (p.Ile1369Phe)
c.2284A>T (p.Ile762Phe)
c.2884A>T (p.Ile962Phe)
c.3505A>T (p.Ile1169Phe)
c.1699A>T (p.Ile567Phe)
2g.237371912T>CCA351196988COL6A3c.3487A>G (p.Ile1163Val)
c.4105A>G (p.Ile1369Val)
c.2284A>G (p.Ile762Val)
c.2884A>G (p.Ile962Val)
c.3505A>G (p.Ile1169Val)
c.1699A>G (p.Ile567Val)
2g.237371912T>GCA351196989COL6A3c.3487A>C (p.Ile1163Leu)
c.4105A>C (p.Ile1369Leu)
c.2284A>C (p.Ile762Leu)
c.2884A>C (p.Ile962Leu)
c.3505A>C (p.Ile1169Leu)
c.1699A>C (p.Ile567Leu)
2g.237371913C>ACA431711280COL6A3c.3486G>T (p.Thr1162=)
c.4104G>T (p.Thr1368=)
c.2283G>T (p.Thr761=)
c.2883G>T (p.Thr961=)
c.3504G>T (p.Thr1168=)
c.1698G>T (p.Thr566=)
 dbSNP
2g.237371913C=CA1337623222COL6A3c.3486G= (p.Thr1162=)
c.4104G= (p.Thr1368=)
c.2283G= (p.Thr761=)
c.2883G= (p.Thr961=)
c.3504G= (p.Thr1168=)
c.1698G= (p.Thr566=)
2g.237371913C>GCA431711281COL6A3c.3486G>C (p.Thr1162=)
c.4104G>C (p.Thr1368=)
c.2283G>C (p.Thr761=)
c.2883G>C (p.Thr961=)
c.3504G>C (p.Thr1168=)
c.1698G>C (p.Thr566=)
 dbSNP
2g.237371913C>TCA2188993COL6A3c.3486G>A (p.Thr1162=)
c.4104G>A (p.Thr1368=)
c.2283G>A (p.Thr761=)
c.2883G>A (p.Thr961=)
c.3504G>A (p.Thr1168=)
c.1698G>A (p.Thr566=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371914G>ACA248090COL6A3c.3485C>T (p.Thr1162Met)
c.4103C>T (p.Thr1368Met)
c.2282C>T (p.Thr761Met)
c.2882C>T (p.Thr961Met)
c.3503C>T (p.Thr1168Met)
c.1697C>T (p.Thr566Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371914G>CCA351196996COL6A3c.3485C>G (p.Thr1162Arg)
c.4103C>G (p.Thr1368Arg)
c.2282C>G (p.Thr761Arg)
c.2882C>G (p.Thr961Arg)
c.3503C>G (p.Thr1168Arg)
c.1697C>G (p.Thr566Arg)
2g.237371914G=CA1337623223COL6A3c.3485C= (p.Thr1162=)
c.4103C= (p.Thr1368=)
c.2282C= (p.Thr761=)
c.2882C= (p.Thr961=)
c.3503C= (p.Thr1168=)
c.1697C= (p.Thr566=)
2g.237371914G>TCA351196998COL6A3c.3485C>A (p.Thr1162Lys)
c.4103C>A (p.Thr1368Lys)
c.2282C>A (p.Thr761Lys)
c.2882C>A (p.Thr961Lys)
c.3503C>A (p.Thr1168Lys)
c.1697C>A (p.Thr566Lys)
 gnomAD v4
2g.237371915T>ACA351197000COL6A3c.3484A>T (p.Thr1162Ser)
c.4102A>T (p.Thr1368Ser)
c.2281A>T (p.Thr761Ser)
c.2881A>T (p.Thr961Ser)
c.3502A>T (p.Thr1168Ser)
c.1696A>T (p.Thr566Ser)
2g.237371915T>CCA351197002COL6A3c.3484A>G (p.Thr1162Ala)
c.4102A>G (p.Thr1368Ala)
c.2281A>G (p.Thr761Ala)
c.2881A>G (p.Thr961Ala)
c.3502A>G (p.Thr1168Ala)
c.1696A>G (p.Thr566Ala)
2g.237371915T>GCA351197003COL6A3c.3484A>C (p.Thr1162Pro)
c.4102A>C (p.Thr1368Pro)
c.2281A>C (p.Thr761Pro)
c.2881A>C (p.Thr961Pro)
c.3502A>C (p.Thr1168Pro)
c.1696A>C (p.Thr566Pro)
2g.237371916G>ACA431711282COL6A3c.3483C>T (p.Phe1161=)
c.4101C>T (p.Phe1367=)
c.2280C>T (p.Phe760=)
c.2880C>T (p.Phe960=)
c.3501C>T (p.Phe1167=)
c.1695C>T (p.Phe565=)
 dbSNP gnomAD v3 gnomAD v4
2g.237371916G>CCA351197011COL6A3c.3483C>G (p.Phe1161Leu)
c.4101C>G (p.Phe1367Leu)
c.2280C>G (p.Phe760Leu)
c.2880C>G (p.Phe960Leu)
c.3501C>G (p.Phe1167Leu)
c.1695C>G (p.Phe565Leu)
2g.237371916G=CA1337623224COL6A3c.3483C= (p.Phe1161=)
c.4101C= (p.Phe1367=)
c.2280C= (p.Phe760=)
c.2880C= (p.Phe960=)
c.3501C= (p.Phe1167=)
c.1695C= (p.Phe565=)
2g.237371916G>TCA351197016COL6A3c.3483C>A (p.Phe1161Leu)
c.4101C>A (p.Phe1367Leu)
c.2280C>A (p.Phe760Leu)
c.2880C>A (p.Phe960Leu)
c.3501C>A (p.Phe1167Leu)
c.1695C>A (p.Phe565Leu)
 gnomAD v4
2g.237371917A>CCA351197021COL6A3c.3482T>G (p.Phe1161Cys)
c.4100T>G (p.Phe1367Cys)
c.2279T>G (p.Phe760Cys)
c.2879T>G (p.Phe960Cys)
c.3500T>G (p.Phe1167Cys)
c.1694T>G (p.Phe565Cys)
2g.237371917A>GCA351197020COL6A3c.3482T>C (p.Phe1161Ser)
c.4100T>C (p.Phe1367Ser)
c.2279T>C (p.Phe760Ser)
c.2879T>C (p.Phe960Ser)
c.3500T>C (p.Phe1167Ser)
c.1694T>C (p.Phe565Ser)
2g.237371917A>TCA351197018COL6A3c.3482T>A (p.Phe1161Tyr)
c.4100T>A (p.Phe1367Tyr)
c.2279T>A (p.Phe760Tyr)
c.2879T>A (p.Phe960Tyr)
c.3500T>A (p.Phe1167Tyr)
c.1694T>A (p.Phe565Tyr)
2g.237371918A>CCA351197023COL6A3c.3481T>G (p.Phe1161Val)
c.4099T>G (p.Phe1367Val)
c.2278T>G (p.Phe760Val)
c.2878T>G (p.Phe960Val)
c.3499T>G (p.Phe1167Val)
c.1693T>G (p.Phe565Val)
2g.237371918A>GCA351197025COL6A3c.3481T>C (p.Phe1161Leu)
c.4099T>C (p.Phe1367Leu)
c.2278T>C (p.Phe760Leu)
c.2878T>C (p.Phe960Leu)
c.3499T>C (p.Phe1167Leu)
c.1693T>C (p.Phe565Leu)
2g.237371918A>TCA351197024COL6A3c.3481T>A (p.Phe1161Ile)
c.4099T>A (p.Phe1367Ile)
c.2278T>A (p.Phe760Ile)
c.2878T>A (p.Phe960Ile)
c.3499T>A (p.Phe1167Ile)
c.1693T>A (p.Phe565Ile)
2g.237371919A>CCA431711286COL6A3c.3480T>G (p.Pro1160=)
c.4098T>G (p.Pro1366=)
c.2277T>G (p.Pro759=)
c.2877T>G (p.Pro959=)
c.3498T>G (p.Pro1166=)
c.1692T>G (p.Pro564=)
2g.237371919A>GCA431711287COL6A3c.3480T>C (p.Pro1160=)
c.4098T>C (p.Pro1366=)
c.2277T>C (p.Pro759=)
c.2877T>C (p.Pro959=)
c.3498T>C (p.Pro1166=)
c.1692T>C (p.Pro564=)
2g.237371919A>TCA431711288COL6A3c.3480T>A (p.Pro1160=)
c.4098T>A (p.Pro1366=)
c.2277T>A (p.Pro759=)
c.2877T>A (p.Pro959=)
c.3498T>A (p.Pro1166=)
c.1692T>A (p.Pro564=)
2g.237371920G>ACA351197027COL6A3c.3479C>T (p.Pro1160Leu)
c.4097C>T (p.Pro1366Leu)
c.2276C>T (p.Pro759Leu)
c.2876C>T (p.Pro959Leu)
c.3497C>T (p.Pro1166Leu)
c.1691C>T (p.Pro564Leu)
2g.237371920G>CCA2188994COL6A3c.3479C>G (p.Pro1160Arg)
c.4097C>G (p.Pro1366Arg)
c.2276C>G (p.Pro759Arg)
c.2876C>G (p.Pro959Arg)
c.3497C>G (p.Pro1166Arg)
c.1691C>G (p.Pro564Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371920G=CA1337623225COL6A3c.3479C= (p.Pro1160=)
c.4097C= (p.Pro1366=)
c.2276C= (p.Pro759=)
c.2876C= (p.Pro959=)
c.3497C= (p.Pro1166=)
c.1691C= (p.Pro564=)
2g.237371920G>TCA351197028COL6A3c.3479C>A (p.Pro1160His)
c.4097C>A (p.Pro1366His)
c.2276C>A (p.Pro759His)
c.2876C>A (p.Pro959His)
c.3497C>A (p.Pro1166His)
c.1691C>A (p.Pro564His)
2g.237371921G>ACA351197032COL6A3c.3478C>T (p.Pro1160Ser)
c.4096C>T (p.Pro1366Ser)
c.2275C>T (p.Pro759Ser)
c.2875C>T (p.Pro959Ser)
c.3496C>T (p.Pro1166Ser)
c.1690C>T (p.Pro564Ser)
2g.237371921G>CCA351197034COL6A3c.3478C>G (p.Pro1160Ala)
c.4096C>G (p.Pro1366Ala)
c.2275C>G (p.Pro759Ala)
c.2875C>G (p.Pro959Ala)
c.3496C>G (p.Pro1166Ala)
c.1690C>G (p.Pro564Ala)
2g.237371921G>TCA351197035COL6A3c.3478C>A (p.Pro1160Thr)
c.4096C>A (p.Pro1366Thr)
c.2275C>A (p.Pro759Thr)
c.2875C>A (p.Pro959Thr)
c.3496C>A (p.Pro1166Thr)
c.1690C>A (p.Pro564Thr)
2g.237371922G>ACA431711292COL6A3c.3477C>T (p.Ala1159=)
c.4095C>T (p.Ala1365=)
c.2274C>T (p.Ala758=)
c.2874C>T (p.Ala958=)
c.3495C>T (p.Ala1165=)
c.1689C>T (p.Ala563=)
 gnomAD v4
2g.237371922G>CCA431711290COL6A3c.3477C>G (p.Ala1159=)
c.4095C>G (p.Ala1365=)
c.2274C>G (p.Ala758=)
c.2874C>G (p.Ala958=)
c.3495C>G (p.Ala1165=)
c.1689C>G (p.Ala563=)
 ClinVar dbSNP gnomAD v4
2g.237371922G>TCA431711291COL6A3c.3477C>A (p.Ala1159=)
c.4095C>A (p.Ala1365=)
c.2274C>A (p.Ala758=)
c.2874C>A (p.Ala958=)
c.3495C>A (p.Ala1165=)
c.1689C>A (p.Ala563=)
2g.237371923G>ACA351197039COL6A3c.3476C>T (p.Ala1159Val)
c.4094C>T (p.Ala1365Val)
c.2273C>T (p.Ala758Val)
c.2873C>T (p.Ala958Val)
c.3494C>T (p.Ala1165Val)
c.1688C>T (p.Ala563Val)
 ClinVar
2g.237371923G>CCA351197040COL6A3c.3476C>G (p.Ala1159Gly)
c.4094C>G (p.Ala1365Gly)
c.2273C>G (p.Ala758Gly)
c.2873C>G (p.Ala958Gly)
c.3494C>G (p.Ala1165Gly)
c.1688C>G (p.Ala563Gly)
2g.237371923G>TCA351197042COL6A3c.3476C>A (p.Ala1159Asp)
c.4094C>A (p.Ala1365Asp)
c.2273C>A (p.Ala758Asp)
c.2873C>A (p.Ala958Asp)
c.3494C>A (p.Ala1165Asp)
c.1688C>A (p.Ala563Asp)
2g.237371924C>ACA351197049COL6A3c.3475G>T (p.Ala1159Ser)
c.4093G>T (p.Ala1365Ser)
c.2272G>T (p.Ala758Ser)
c.2872G>T (p.Ala958Ser)
c.3493G>T (p.Ala1165Ser)
c.1687G>T (p.Ala563Ser)
 gnomAD v4
2g.237371924C=CA1337623226COL6A3c.3475G= (p.Ala1159=)
c.4093G= (p.Ala1365=)
c.2272G= (p.Ala758=)
c.2872G= (p.Ala958=)
c.3493G= (p.Ala1165=)
c.1687G= (p.Ala563=)
2g.237371924C>GCA351197047COL6A3c.3475G>C (p.Ala1159Pro)
c.4093G>C (p.Ala1365Pro)
c.2272G>C (p.Ala758Pro)
c.2872G>C (p.Ala958Pro)
c.3493G>C (p.Ala1165Pro)
c.1687G>C (p.Ala563Pro)
2g.237371924C>TCA351197045COL6A3c.3475G>A (p.Ala1159Thr)
c.4093G>A (p.Ala1365Thr)
c.2272G>A (p.Ala758Thr)
c.2872G>A (p.Ala958Thr)
c.3493G>A (p.Ala1165Thr)
c.1687G>A (p.Ala563Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371925C>ACA431711294COL6A3c.3474G>T (p.Val1158=)
c.4092G>T (p.Val1364=)
c.2271G>T (p.Val757=)
c.2871G>T (p.Val957=)
c.3492G>T (p.Val1164=)
c.1686G>T (p.Val562=)
2g.237371925C=CA1337623227COL6A3c.3474G= (p.Val1158=)
c.4092G= (p.Val1364=)
c.2271G= (p.Val757=)
c.2871G= (p.Val957=)
c.3492G= (p.Val1164=)
c.1686G= (p.Val562=)
2g.237371925C>GCA431711295COL6A3c.3474G>C (p.Val1158=)
c.4092G>C (p.Val1364=)
c.2271G>C (p.Val757=)
c.2871G>C (p.Val957=)
c.3492G>C (p.Val1164=)
c.1686G>C (p.Val562=)
2g.237371925C>TCA431711297COL6A3c.3474G>A (p.Val1158=)
c.4092G>A (p.Val1364=)
c.2271G>A (p.Val757=)
c.2871G>A (p.Val957=)
c.3492G>A (p.Val1164=)
c.1686G>A (p.Val562=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371926A>CCA351197051COL6A3c.3473T>G (p.Val1158Gly)
c.4091T>G (p.Val1364Gly)
c.2270T>G (p.Val757Gly)
c.2870T>G (p.Val957Gly)
c.3491T>G (p.Val1164Gly)
c.1685T>G (p.Val562Gly)
2g.237371926A>GCA351197053COL6A3c.3473T>C (p.Val1158Ala)
c.4091T>C (p.Val1364Ala)
c.2270T>C (p.Val757Ala)
c.2870T>C (p.Val957Ala)
c.3491T>C (p.Val1164Ala)
c.1685T>C (p.Val562Ala)
 ClinVar gnomAD v4
2g.237371926A>TCA351197055COL6A3c.3473T>A (p.Val1158Glu)
c.4091T>A (p.Val1364Glu)
c.2270T>A (p.Val757Glu)
c.2870T>A (p.Val957Glu)
c.3491T>A (p.Val1164Glu)
c.1685T>A (p.Val562Glu)
2g.237371927C>ACA351197057COL6A3c.3472G>T (p.Val1158Leu)
c.4090G>T (p.Val1364Leu)
c.2269G>T (p.Val757Leu)
c.2869G>T (p.Val957Leu)
c.3490G>T (p.Val1164Leu)
c.1684G>T (p.Val562Leu)
2g.237371927C=CA1337623228COL6A3c.3472G= (p.Val1158=)
c.4090G= (p.Val1364=)
c.2269G= (p.Val757=)
c.2869G= (p.Val957=)
c.3490G= (p.Val1164=)
c.1684G= (p.Val562=)
2g.237371927C>GCA351197059COL6A3c.3472G>C (p.Val1158Leu)
c.4090G>C (p.Val1364Leu)
c.2269G>C (p.Val757Leu)
c.2869G>C (p.Val957Leu)
c.3490G>C (p.Val1164Leu)
c.1684G>C (p.Val562Leu)
 dbSNP
2g.237371927C>TCA147953COL6A3c.3472G>A (p.Val1158Met)
c.4090G>A (p.Val1364Met)
c.2269G>A (p.Val757Met)
c.2869G>A (p.Val957Met)
c.3490G>A (p.Val1164Met)
c.1684G>A (p.Val562Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371928G>ACA67818861COL6A3c.3471C>T (p.Gly1157=)
c.4089C>T (p.Gly1363=)
c.2268C>T (p.Gly756=)
c.2868C>T (p.Gly956=)
c.3489C>T (p.Gly1163=)
c.1683C>T (p.Gly561=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237371928G>CCA431711300COL6A3c.3471C>G (p.Gly1157=)
c.4089C>G (p.Gly1363=)
c.2268C>G (p.Gly756=)
c.2868C>G (p.Gly956=)
c.3489C>G (p.Gly1163=)
c.1683C>G (p.Gly561=)
2g.237371928G=CA1337623229COL6A3c.3471C= (p.Gly1157=)
c.4089C= (p.Gly1363=)
c.2268C= (p.Gly756=)
c.2868C= (p.Gly956=)
c.3489C= (p.Gly1163=)
c.1683C= (p.Gly561=)
2g.237371928G>TCA431711301COL6A3c.3471C>A (p.Gly1157=)
c.4089C>A (p.Gly1363=)
c.2268C>A (p.Gly756=)
c.2868C>A (p.Gly956=)
c.3489C>A (p.Gly1163=)
c.1683C>A (p.Gly561=)
 dbSNP
2g.237371929C>ACA351197066COL6A3c.3470G>T (p.Gly1157Val)
c.4088G>T (p.Gly1363Val)
c.2267G>T (p.Gly756Val)
c.2867G>T (p.Gly956Val)
c.3488G>T (p.Gly1163Val)
c.1682G>T (p.Gly561Val)
2g.237371929C>GCA351197062COL6A3c.3470G>C (p.Gly1157Ala)
c.4088G>C (p.Gly1363Ala)
c.2267G>C (p.Gly756Ala)
c.2867G>C (p.Gly956Ala)
c.3488G>C (p.Gly1163Ala)
c.1682G>C (p.Gly561Ala)
 gnomAD v4
2g.237371929C>TCA351197064COL6A3c.3470G>A (p.Gly1157Asp)
c.4088G>A (p.Gly1363Asp)
c.2267G>A (p.Gly756Asp)
c.2867G>A (p.Gly956Asp)
c.3488G>A (p.Gly1163Asp)
c.1682G>A (p.Gly561Asp)
2g.237371930C>ACA351197068COL6A3c.3469G>T (p.Gly1157Cys)
c.4087G>T (p.Gly1363Cys)
c.2266G>T (p.Gly756Cys)
c.2866G>T (p.Gly956Cys)
c.3487G>T (p.Gly1163Cys)
c.1681G>T (p.Gly561Cys)
 gnomAD v4
2g.237371930C=CA1337623230COL6A3c.3469G= (p.Gly1157=)
c.4087G= (p.Gly1363=)
c.2266G= (p.Gly756=)
c.2866G= (p.Gly956=)
c.3487G= (p.Gly1163=)
c.1681G= (p.Gly561=)
2g.237371930C>GCA351197070COL6A3c.3469G>C (p.Gly1157Arg)
c.4087G>C (p.Gly1363Arg)
c.2266G>C (p.Gly756Arg)
c.2866G>C (p.Gly956Arg)
c.3487G>C (p.Gly1163Arg)
c.1681G>C (p.Gly561Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.237371930C>TCA351197072COL6A3c.3469G>A (p.Gly1157Ser)
c.4087G>A (p.Gly1363Ser)
c.2266G>A (p.Gly756Ser)
c.2866G>A (p.Gly956Ser)
c.3487G>A (p.Gly1163Ser)
c.1681G>A (p.Gly561Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.237371931A>CCA351197073COL6A3c.3468T>G (p.Phe1156Leu)
c.4086T>G (p.Phe1362Leu)
c.2265T>G (p.Phe755Leu)
c.2865T>G (p.Phe955Leu)
c.3486T>G (p.Phe1162Leu)
c.1680T>G (p.Phe560Leu)
2g.237371931A>GCA431711305COL6A3c.3468T>C (p.Phe1156=)
c.4086T>C (p.Phe1362=)
c.2265T>C (p.Phe755=)
c.2865T>C (p.Phe955=)
c.3486T>C (p.Phe1162=)
c.1680T>C (p.Phe560=)
2g.237371931A>TCA351197074COL6A3c.3468T>A (p.Phe1156Leu)
c.4086T>A (p.Phe1362Leu)
c.2265T>A (p.Phe755Leu)
c.2865T>A (p.Phe955Leu)
c.3486T>A (p.Phe1162Leu)
c.1680T>A (p.Phe560Leu)
2g.237371932A=CA1337623231COL6A3c.3467T= (p.Phe1156=)
c.4085T= (p.Phe1362=)
c.2264T= (p.Phe755=)
c.2864T= (p.Phe955=)
c.3485T= (p.Phe1162=)
c.1679T= (p.Phe560=)
2g.237371932A>CCA351197076COL6A3c.3467T>G (p.Phe1156Cys)
c.4085T>G (p.Phe1362Cys)
c.2264T>G (p.Phe755Cys)
c.2864T>G (p.Phe955Cys)
c.3485T>G (p.Phe1162Cys)
c.1679T>G (p.Phe560Cys)
2g.237371932A>GCA351197078COL6A3c.3467T>C (p.Phe1156Ser)
c.4085T>C (p.Phe1362Ser)
c.2264T>C (p.Phe755Ser)
c.2864T>C (p.Phe955Ser)
c.3485T>C (p.Phe1162Ser)
c.1679T>C (p.Phe560Ser)
 ClinVar dbSNP
2g.237371932A>TCA2188995COL6A3c.3467T>A (p.Phe1156Tyr)
c.4085T>A (p.Phe1362Tyr)
c.2264T>A (p.Phe755Tyr)
c.2864T>A (p.Phe955Tyr)
c.3485T>A (p.Phe1162Tyr)
c.1679T>A (p.Phe560Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371933A>CCA351197081COL6A3c.3466T>G (p.Phe1156Val)
c.4084T>G (p.Phe1362Val)
c.2263T>G (p.Phe755Val)
c.2863T>G (p.Phe955Val)
c.3484T>G (p.Phe1162Val)
c.1678T>G (p.Phe560Val)
2g.237371933A>GCA351197082COL6A3c.3466T>C (p.Phe1156Leu)
c.4084T>C (p.Phe1362Leu)
c.2263T>C (p.Phe755Leu)
c.2863T>C (p.Phe955Leu)
c.3484T>C (p.Phe1162Leu)
c.1678T>C (p.Phe560Leu)
2g.237371933A>TCA351197084COL6A3c.3466T>A (p.Phe1156Ile)
c.4084T>A (p.Phe1362Ile)
c.2263T>A (p.Phe755Ile)
c.2863T>A (p.Phe955Ile)
c.3484T>A (p.Phe1162Ile)
c.1678T>A (p.Phe560Ile)
2g.237371934C>ACA351197086COL6A3c.3465G>T (p.Gln1155His)
c.4083G>T (p.Gln1361His)
c.2262G>T (p.Gln754His)
c.2862G>T (p.Gln954His)
c.3483G>T (p.Gln1161His)
c.1677G>T (p.Gln559His)
 ClinVar dbSNP gnomAD v4
2g.237371934C>GCA351197088COL6A3c.3465G>C (p.Gln1155His)
c.4083G>C (p.Gln1361His)
c.2262G>C (p.Gln754His)
c.2862G>C (p.Gln954His)
c.3483G>C (p.Gln1161His)
c.1677G>C (p.Gln559His)
2g.237371934C>TCA431711306COL6A3c.3465G>A (p.Gln1155=)
c.4083G>A (p.Gln1361=)
c.2262G>A (p.Gln754=)
c.2862G>A (p.Gln954=)
c.3483G>A (p.Gln1161=)
c.1677G>A (p.Gln559=)
2g.237371935T>ACA351197090COL6A3c.3464A>T (p.Gln1155Leu)
c.4082A>T (p.Gln1361Leu)
c.2261A>T (p.Gln754Leu)
c.2861A>T (p.Gln954Leu)
c.3482A>T (p.Gln1161Leu)
c.1676A>T (p.Gln559Leu)
2g.237371935T>CCA351197093COL6A3c.3464A>G (p.Gln1155Arg)
c.4082A>G (p.Gln1361Arg)
c.2261A>G (p.Gln754Arg)
c.2861A>G (p.Gln954Arg)
c.3482A>G (p.Gln1161Arg)
c.1676A>G (p.Gln559Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371935T>GCA2188996COL6A3c.3464A>C (p.Gln1155Pro)
c.4082A>C (p.Gln1361Pro)
c.2261A>C (p.Gln754Pro)
c.2861A>C (p.Gln954Pro)
c.3482A>C (p.Gln1161Pro)
c.1676A>C (p.Gln559Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371935T=CA1337623232COL6A3c.3464A= (p.Gln1155=)
c.4082A= (p.Gln1361=)
c.2261A= (p.Gln754=)
c.2861A= (p.Gln954=)
c.3482A= (p.Gln1161=)
c.1676A= (p.Gln559=)
2g.237371936G>ACA351197094COL6A3c.3463C>T (p.Gln1155Ter)
c.4081C>T (p.Gln1361Ter)
c.2260C>T (p.Gln754Ter)
c.2860C>T (p.Gln954Ter)
c.3481C>T (p.Gln1161Ter)
c.1675C>T (p.Gln559Ter)
 COSMIC COSMIC
2g.237371936G>CCA351197096COL6A3c.3463C>G (p.Gln1155Glu)
c.4081C>G (p.Gln1361Glu)
c.2260C>G (p.Gln754Glu)
c.2860C>G (p.Gln954Glu)
c.3481C>G (p.Gln1161Glu)
c.1675C>G (p.Gln559Glu)
2g.237371936G>TCA351197098COL6A3c.3463C>A (p.Gln1155Lys)
c.4081C>A (p.Gln1361Lys)
c.2260C>A (p.Gln754Lys)
c.2860C>A (p.Gln954Lys)
c.3481C>A (p.Gln1161Lys)
c.1675C>A (p.Gln559Lys)
 gnomAD v4
2g.237371937C>ACA2188997COL6A3c.3462G>T (p.Lys1154Asn)
c.4080G>T (p.Lys1360Asn)
c.2259G>T (p.Lys753Asn)
c.2859G>T (p.Lys953Asn)
c.3480G>T (p.Lys1160Asn)
c.1674G>T (p.Lys558Asn)
 dbSNP ExAC gnomAD v2
2g.237371937C=CA1337623233COL6A3c.3462G= (p.Lys1154=)
c.4080G= (p.Lys1360=)
c.2259G= (p.Lys753=)
c.2859G= (p.Lys953=)
c.3480G= (p.Lys1160=)
c.1674G= (p.Lys558=)
2g.237371937C>GCA351197101COL6A3c.3462G>C (p.Lys1154Asn)
c.4080G>C (p.Lys1360Asn)
c.2259G>C (p.Lys753Asn)
c.2859G>C (p.Lys953Asn)
c.3480G>C (p.Lys1160Asn)
c.1674G>C (p.Lys558Asn)
2g.237371937C>TCA431711308COL6A3c.3462G>A (p.Lys1154=)
c.4080G>A (p.Lys1360=)
c.2259G>A (p.Lys753=)
c.2859G>A (p.Lys953=)
c.3480G>A (p.Lys1160=)
c.1674G>A (p.Lys558=)
 dbSNP
2g.237371937_237371938delinsCTCA1337623234COL6A3c.3461_3462delinsAG (p.Lys1154=)
c.4079_4080delinsAG (p.Lys1360=)
c.2258_2259delinsAG (p.Lys753=)
c.2858_2859delinsAG (p.Lys953=)
c.3479_3480delinsAG (p.Lys1160=)
c.1673_1674delinsAG (p.Lys558=)
2g.237371938T>ACA351197108COL6A3c.3461A>T (p.Lys1154Met)
c.4079A>T (p.Lys1360Met)
c.2258A>T (p.Lys753Met)
c.2858A>T (p.Lys953Met)
c.3479A>T (p.Lys1160Met)
c.1673A>T (p.Lys558Met)
2g.237371938T>CCA351197105COL6A3c.3461A>G (p.Lys1154Arg)
c.4079A>G (p.Lys1360Arg)
c.2258A>G (p.Lys753Arg)
c.2858A>G (p.Lys953Arg)
c.3479A>G (p.Lys1160Arg)
c.1673A>G (p.Lys558Arg)
 gnomAD v4
2g.237371938T>GCA351197104COL6A3c.3461A>C (p.Lys1154Thr)
c.4079A>C (p.Lys1360Thr)
c.2258A>C (p.Lys753Thr)
c.2858A>C (p.Lys953Thr)
c.3479A>C (p.Lys1160Thr)
c.1673A>C (p.Lys558Thr)
2g.237371939delCA1337623235COL6A3c.3461del (p.Lys1154SerfsTer20)
c.4079del (p.Lys1360SerfsTer20)
c.2258del (p.Lys753SerfsTer20)
c.2858del (p.Lys953SerfsTer20)
c.3479del (p.Lys1160SerfsTer20)
c.1673del (p.Lys558SerfsTer20)
 dbSNP
2g.237371939T>ACA351197110COL6A3c.3460A>T (p.Lys1154Ter)
c.4078A>T (p.Lys1360Ter)
c.2257A>T (p.Lys753Ter)
c.2857A>T (p.Lys953Ter)
c.3478A>T (p.Lys1160Ter)
c.1672A>T (p.Lys558Ter)
2g.237371939T>CCA351197112COL6A3c.3460A>G (p.Lys1154Glu)
c.4078A>G (p.Lys1360Glu)
c.2257A>G (p.Lys753Glu)
c.2857A>G (p.Lys953Glu)
c.3478A>G (p.Lys1160Glu)
c.1672A>G (p.Lys558Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371939T>GCA351197114COL6A3c.3460A>C (p.Lys1154Gln)
c.4078A>C (p.Lys1360Gln)
c.2257A>C (p.Lys753Gln)
c.2857A>C (p.Lys953Gln)
c.3478A>C (p.Lys1160Gln)
c.1672A>C (p.Lys558Gln)
2g.237371939T=CA1337623236COL6A3c.3460A= (p.Lys1154=)
c.4078A= (p.Lys1360=)
c.2257A= (p.Lys753=)
c.2857A= (p.Lys953=)
c.3478A= (p.Lys1160=)
c.1672A= (p.Lys558=)
2g.237371940G>ACA431711311COL6A3c.3459C>T (p.Leu1153=)
c.4077C>T (p.Leu1359=)
c.2256C>T (p.Leu752=)
c.2856C>T (p.Leu952=)
c.3477C>T (p.Leu1159=)
c.1671C>T (p.Leu557=)
 gnomAD v4
2g.237371940G>CCA431711313COL6A3c.3459C>G (p.Leu1153=)
c.4077C>G (p.Leu1359=)
c.2256C>G (p.Leu752=)
c.2856C>G (p.Leu952=)
c.3477C>G (p.Leu1159=)
c.1671C>G (p.Leu557=)
 COSMIC COSMIC
2g.237371940G>TCA431711314COL6A3c.3459C>A (p.Leu1153=)
c.4077C>A (p.Leu1359=)
c.2256C>A (p.Leu752=)
c.2856C>A (p.Leu952=)
c.3477C>A (p.Leu1159=)
c.1671C>A (p.Leu557=)
2g.237371941A>CCA351197118COL6A3c.3458T>G (p.Leu1153Arg)
c.4076T>G (p.Leu1359Arg)
c.2255T>G (p.Leu752Arg)
c.2855T>G (p.Leu952Arg)
c.3476T>G (p.Leu1159Arg)
c.1670T>G (p.Leu557Arg)
2g.237371941A>GCA351197119COL6A3c.3458T>C (p.Leu1153Pro)
c.4076T>C (p.Leu1359Pro)
c.2255T>C (p.Leu752Pro)
c.2855T>C (p.Leu952Pro)
c.3476T>C (p.Leu1159Pro)
c.1670T>C (p.Leu557Pro)
2g.237371941A>TCA351197122COL6A3c.3458T>A (p.Leu1153His)
c.4076T>A (p.Leu1359His)
c.2255T>A (p.Leu752His)
c.2855T>A (p.Leu952His)
c.3476T>A (p.Leu1159His)
c.1670T>A (p.Leu557His)
2g.237371942G>ACA351197123COL6A3c.3457C>T (p.Leu1153Phe)
c.4075C>T (p.Leu1359Phe)
c.2254C>T (p.Leu752Phe)
c.2854C>T (p.Leu952Phe)
c.3475C>T (p.Leu1159Phe)
c.1669C>T (p.Leu557Phe)
 gnomAD v4
2g.237371942G>CCA351197127COL6A3c.3457C>G (p.Leu1153Val)
c.4075C>G (p.Leu1359Val)
c.2254C>G (p.Leu752Val)
c.2854C>G (p.Leu952Val)
c.3475C>G (p.Leu1159Val)
c.1669C>G (p.Leu557Val)
2g.237371942G=CA1337623237COL6A3c.3457C= (p.Leu1153=)
c.4075C= (p.Leu1359=)
c.2254C= (p.Leu752=)
c.2854C= (p.Leu952=)
c.3475C= (p.Leu1159=)
c.1669C= (p.Leu557=)
2g.237371942G>TCA351197125COL6A3c.3457C>A (p.Leu1153Ile)
c.4075C>A (p.Leu1359Ile)
c.2254C>A (p.Leu752Ile)
c.2854C>A (p.Leu952Ile)
c.3475C>A (p.Leu1159Ile)
c.1669C>A (p.Leu557Ile)
 ClinVar dbSNP gnomAD v4
2g.237371943C>ACA351197128COL6A3c.3456G>T (p.Glu1152Asp)
c.4074G>T (p.Glu1358Asp)
c.2253G>T (p.Glu751Asp)
c.2853G>T (p.Glu951Asp)
c.3474G>T (p.Glu1158Asp)
c.1668G>T (p.Glu556Asp)
2g.237371943C>GCA351197130COL6A3c.3456G>C (p.Glu1152Asp)
c.4074G>C (p.Glu1358Asp)
c.2253G>C (p.Glu751Asp)
c.2853G>C (p.Glu951Asp)
c.3474G>C (p.Glu1158Asp)
c.1668G>C (p.Glu556Asp)
2g.237371943C>TCA431711315COL6A3c.3456G>A (p.Glu1152=)
c.4074G>A (p.Glu1358=)
c.2253G>A (p.Glu751=)
c.2853G>A (p.Glu951=)
c.3474G>A (p.Glu1158=)
c.1668G>A (p.Glu556=)
2g.237371944T>ACA351197132COL6A3c.3455A>T (p.Glu1152Val)
c.4073A>T (p.Glu1358Val)
c.2252A>T (p.Glu751Val)
c.2852A>T (p.Glu951Val)
c.3473A>T (p.Glu1158Val)
c.1667A>T (p.Glu556Val)
2g.237371944T>CCA351197135COL6A3c.3455A>G (p.Glu1152Gly)
c.4073A>G (p.Glu1358Gly)
c.2252A>G (p.Glu751Gly)
c.2852A>G (p.Glu951Gly)
c.3473A>G (p.Glu1158Gly)
c.1667A>G (p.Glu556Gly)
2g.237371944T>GCA351197136COL6A3c.3455A>C (p.Glu1152Ala)
c.4073A>C (p.Glu1358Ala)
c.2252A>C (p.Glu751Ala)
c.2852A>C (p.Glu951Ala)
c.3473A>C (p.Glu1158Ala)
c.1667A>C (p.Glu556Ala)
2g.237371945C>ACA351197140COL6A3c.3454G>T (p.Glu1152Ter)
c.4072G>T (p.Glu1358Ter)
c.2251G>T (p.Glu751Ter)
c.2851G>T (p.Glu951Ter)
c.3472G>T (p.Glu1158Ter)
c.1666G>T (p.Glu556Ter)
2g.237371945C=CA1337623238COL6A3c.3454G= (p.Glu1152=)
c.4072G= (p.Glu1358=)
c.2251G= (p.Glu751=)
c.2851G= (p.Glu951=)
c.3472G= (p.Glu1158=)
c.1666G= (p.Glu556=)
2g.237371945C>GCA351197141COL6A3c.3454G>C (p.Glu1152Gln)
c.4072G>C (p.Glu1358Gln)
c.2251G>C (p.Glu751Gln)
c.2851G>C (p.Glu951Gln)
c.3472G>C (p.Glu1158Gln)
c.1666G>C (p.Glu556Gln)
2g.237371945C>TCA2188998COL6A3c.3454G>A (p.Glu1152Lys)
c.4072G>A (p.Glu1358Lys)
c.2251G>A (p.Glu751Lys)
c.2851G>A (p.Glu951Lys)
c.3472G>A (p.Glu1158Lys)
c.1666G>A (p.Glu556Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371946C>ACA431711317COL6A3c.3453G>T (p.Val1151=)
c.4071G>T (p.Val1357=)
c.2250G>T (p.Val750=)
c.2850G>T (p.Val950=)
c.3471G>T (p.Val1157=)
c.1665G>T (p.Val555=)
2g.237371946C>GCA431711318COL6A3c.3453G>C (p.Val1151=)
c.4071G>C (p.Val1357=)
c.2250G>C (p.Val750=)
c.2850G>C (p.Val950=)
c.3471G>C (p.Val1157=)
c.1665G>C (p.Val555=)
2g.237371946C>TCA431711319COL6A3c.3453G>A (p.Val1151=)
c.4071G>A (p.Val1357=)
c.2250G>A (p.Val750=)
c.2850G>A (p.Val950=)
c.3471G>A (p.Val1157=)
c.1665G>A (p.Val555=)
 COSMIC COSMIC
2g.237371947A=CA1337623239COL6A3c.3452T= (p.Val1151=)
c.4070T= (p.Val1357=)
c.2249T= (p.Val750=)
c.2849T= (p.Val950=)
c.3470T= (p.Val1157=)
c.1664T= (p.Val555=)
2g.237371947A>CCA351197144COL6A3c.3452T>G (p.Val1151Gly)
c.4070T>G (p.Val1357Gly)
c.2249T>G (p.Val750Gly)
c.2849T>G (p.Val950Gly)
c.3470T>G (p.Val1157Gly)
c.1664T>G (p.Val555Gly)
 ClinVar dbSNP
2g.237371947A>GCA351197146COL6A3c.3452T>C (p.Val1151Ala)
c.4070T>C (p.Val1357Ala)
c.2249T>C (p.Val750Ala)
c.2849T>C (p.Val950Ala)
c.3470T>C (p.Val1157Ala)
c.1664T>C (p.Val555Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371947A>TCA351197148COL6A3c.3452T>A (p.Val1151Glu)
c.4070T>A (p.Val1357Glu)
c.2249T>A (p.Val750Glu)
c.2849T>A (p.Val950Glu)
c.3470T>A (p.Val1157Glu)
c.1664T>A (p.Val555Glu)
2g.237371948C>ACA351197150COL6A3c.3451G>T (p.Val1151Leu)
c.4069G>T (p.Val1357Leu)
c.2248G>T (p.Val750Leu)
c.2848G>T (p.Val950Leu)
c.3469G>T (p.Val1157Leu)
c.1663G>T (p.Val555Leu)
 COSMIC
2g.237371948C>GCA351197155COL6A3c.3451G>C (p.Val1151Leu)
c.4069G>C (p.Val1357Leu)
c.2248G>C (p.Val750Leu)
c.2848G>C (p.Val950Leu)
c.3469G>C (p.Val1157Leu)
c.1663G>C (p.Val555Leu)
2g.237371948C>TCA351197153COL6A3c.3451G>A (p.Val1151Met)
c.4069G>A (p.Val1357Met)
c.2248G>A (p.Val750Met)
c.2848G>A (p.Val950Met)
c.3469G>A (p.Val1157Met)
c.1663G>A (p.Val555Met)
2g.237371949C>ACA431711321COL6A3c.3450G>T (p.Ala1150=)
c.4068G>T (p.Ala1356=)
c.2247G>T (p.Ala749=)
c.2847G>T (p.Ala949=)
c.3468G>T (p.Ala1156=)
c.1662G>T (p.Ala554=)
2g.237371949C=CA1337623240COL6A3c.3450G= (p.Ala1150=)
c.4068G= (p.Ala1356=)
c.2247G= (p.Ala749=)
c.2847G= (p.Ala949=)
c.3468G= (p.Ala1156=)
c.1662G= (p.Ala554=)
2g.237371949C>GCA431711322COL6A3c.3450G>C (p.Ala1150=)
c.4068G>C (p.Ala1356=)
c.2247G>C (p.Ala749=)
c.2847G>C (p.Ala949=)
c.3468G>C (p.Ala1156=)
c.1662G>C (p.Ala554=)
2g.237371949C>TCA2188999COL6A3c.3450G>A (p.Ala1150=)
c.4068G>A (p.Ala1356=)
c.2247G>A (p.Ala749=)
c.2847G>A (p.Ala949=)
c.3468G>A (p.Ala1156=)
c.1662G>A (p.Ala554=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371950G>ACA2189000COL6A3c.3449C>T (p.Ala1150Val)
c.4067C>T (p.Ala1356Val)
c.2246C>T (p.Ala749Val)
c.2846C>T (p.Ala949Val)
c.3467C>T (p.Ala1156Val)
c.1661C>T (p.Ala554Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371950G>CCA351197159COL6A3c.3449C>G (p.Ala1150Gly)
c.4067C>G (p.Ala1356Gly)
c.2246C>G (p.Ala749Gly)
c.2846C>G (p.Ala949Gly)
c.3467C>G (p.Ala1156Gly)
c.1661C>G (p.Ala554Gly)
2g.237371950G=CA1337623241COL6A3c.3449C= (p.Ala1150=)
c.4067C= (p.Ala1356=)
c.2246C= (p.Ala749=)
c.2846C= (p.Ala949=)
c.3467C= (p.Ala1156=)
c.1661C= (p.Ala554=)
2g.237371950G>TCA351197161COL6A3c.3449C>A (p.Ala1150Glu)
c.4067C>A (p.Ala1356Glu)
c.2246C>A (p.Ala749Glu)
c.2846C>A (p.Ala949Glu)
c.3467C>A (p.Ala1156Glu)
c.1661C>A (p.Ala554Glu)
 gnomAD v4
2g.237371951C>ACA351197164COL6A3c.3448G>T (p.Ala1150Ser)
c.4066G>T (p.Ala1356Ser)
c.2245G>T (p.Ala749Ser)
c.2845G>T (p.Ala949Ser)
c.3466G>T (p.Ala1156Ser)
c.1660G>T (p.Ala554Ser)
2g.237371951C=CA1337623242COL6A3c.3448G= (p.Ala1150=)
c.4066G= (p.Ala1356=)
c.2245G= (p.Ala749=)
c.2845G= (p.Ala949=)
c.3466G= (p.Ala1156=)
c.1660G= (p.Ala554=)
2g.237371951C>GCA351197166COL6A3c.3448G>C (p.Ala1150Pro)
c.4066G>C (p.Ala1356Pro)
c.2245G>C (p.Ala749Pro)
c.2845G>C (p.Ala949Pro)
c.3466G>C (p.Ala1156Pro)
c.1660G>C (p.Ala554Pro)
 dbSNP
2g.237371951C>TCA2189001COL6A3c.3448G>A (p.Ala1150Thr)
c.4066G>A (p.Ala1356Thr)
c.2245G>A (p.Ala749Thr)
c.2845G>A (p.Ala949Thr)
c.3466G>A (p.Ala1156Thr)
c.1660G>A (p.Ala554Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371952C>ACA431711323COL6A3c.3447G>T (p.Pro1149=)
c.4065G>T (p.Pro1355=)
c.2244G>T (p.Pro748=)
c.2844G>T (p.Pro948=)
c.3465G>T (p.Pro1155=)
c.1659G>T (p.Pro553=)
 COSMIC COSMIC
2g.237371952C=CA1337623243COL6A3c.3447G= (p.Pro1149=)
c.4065G= (p.Pro1355=)
c.2244G= (p.Pro748=)
c.2844G= (p.Pro948=)
c.3465G= (p.Pro1155=)
c.1659G= (p.Pro553=)
2g.237371952C>GCA431711324COL6A3c.3447G>C (p.Pro1149=)
c.4065G>C (p.Pro1355=)
c.2244G>C (p.Pro748=)
c.2844G>C (p.Pro948=)
c.3465G>C (p.Pro1155=)
c.1659G>C (p.Pro553=)
 dbSNP gnomAD v3 gnomAD v4
2g.237371952C>TCA2189002COL6A3c.3447G>A (p.Pro1149=)
c.4065G>A (p.Pro1355=)
c.2244G>A (p.Pro748=)
c.2844G>A (p.Pro948=)
c.3465G>A (p.Pro1155=)
c.1659G>A (p.Pro553=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371953G>ACA2189003COL6A3c.3446C>T (p.Pro1149Leu)
c.4064C>T (p.Pro1355Leu)
c.2243C>T (p.Pro748Leu)
c.2843C>T (p.Pro948Leu)
c.3464C>T (p.Pro1155Leu)
c.1658C>T (p.Pro553Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371953G>CCA351197172COL6A3c.3446C>G (p.Pro1149Arg)
c.4064C>G (p.Pro1355Arg)
c.2243C>G (p.Pro748Arg)
c.2843C>G (p.Pro948Arg)
c.3464C>G (p.Pro1155Arg)
c.1658C>G (p.Pro553Arg)
2g.237371953G=CA1337623244COL6A3c.3446C= (p.Pro1149=)
c.4064C= (p.Pro1355=)
c.2243C= (p.Pro748=)
c.2843C= (p.Pro948=)
c.3464C= (p.Pro1155=)
c.1658C= (p.Pro553=)
2g.237371953G>TCA351197174COL6A3c.3446C>A (p.Pro1149Gln)
c.4064C>A (p.Pro1355Gln)
c.2243C>A (p.Pro748Gln)
c.2843C>A (p.Pro948Gln)
c.3464C>A (p.Pro1155Gln)
c.1658C>A (p.Pro553Gln)
2g.237371954G>ACA351197179COL6A3c.3445C>T (p.Pro1149Ser)
c.4063C>T (p.Pro1355Ser)
c.2242C>T (p.Pro748Ser)
c.2842C>T (p.Pro948Ser)
c.3463C>T (p.Pro1155Ser)
c.1657C>T (p.Pro553Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.237371954G>CCA351197181COL6A3c.3445C>G (p.Pro1149Ala)
c.4063C>G (p.Pro1355Ala)
c.2242C>G (p.Pro748Ala)
c.2842C>G (p.Pro948Ala)
c.3463C>G (p.Pro1155Ala)
c.1657C>G (p.Pro553Ala)
2g.237371954G=CA1337623245COL6A3c.3445C= (p.Pro1149=)
c.4063C= (p.Pro1355=)
c.2242C= (p.Pro748=)
c.2842C= (p.Pro948=)
c.3463C= (p.Pro1155=)
c.1657C= (p.Pro553=)
2g.237371954G>TCA351197183COL6A3c.3445C>A (p.Pro1149Thr)
c.4063C>A (p.Pro1355Thr)
c.2242C>A (p.Pro748Thr)
c.2842C>A (p.Pro948Thr)
c.3463C>A (p.Pro1155Thr)
c.1657C>A (p.Pro553Thr)
 dbSNP
2g.237371955G>ACA431711326COL6A3c.3444C>T (p.Asp1148=)
c.4062C>T (p.Asp1354=)
c.2241C>T (p.Asp747=)
c.2841C>T (p.Asp947=)
c.3462C>T (p.Asp1154=)
c.1656C>T (p.Asp552=)
2g.237371955G>CCA351197187COL6A3c.3444C>G (p.Asp1148Glu)
c.4062C>G (p.Asp1354Glu)
c.2241C>G (p.Asp747Glu)
c.2841C>G (p.Asp947Glu)
c.3462C>G (p.Asp1154Glu)
c.1656C>G (p.Asp552Glu)
2g.237371955G>TCA351197185COL6A3c.3444C>A (p.Asp1148Glu)
c.4062C>A (p.Asp1354Glu)
c.2241C>A (p.Asp747Glu)
c.2841C>A (p.Asp947Glu)
c.3462C>A (p.Asp1154Glu)
c.1656C>A (p.Asp552Glu)
 gnomAD v4
2g.237371956T>ACA351197190COL6A3c.3443A>T (p.Asp1148Val)
c.4061A>T (p.Asp1354Val)
c.2240A>T (p.Asp747Val)
c.2840A>T (p.Asp947Val)
c.3461A>T (p.Asp1154Val)
c.1655A>T (p.Asp552Val)
2g.237371956T>CCA351197192COL6A3c.3443A>G (p.Asp1148Gly)
c.4061A>G (p.Asp1354Gly)
c.2240A>G (p.Asp747Gly)
c.2840A>G (p.Asp947Gly)
c.3461A>G (p.Asp1154Gly)
c.1655A>G (p.Asp552Gly)
 dbSNP
2g.237371956T>GCA351197194COL6A3c.3443A>C (p.Asp1148Ala)
c.4061A>C (p.Asp1354Ala)
c.2240A>C (p.Asp747Ala)
c.2840A>C (p.Asp947Ala)
c.3461A>C (p.Asp1154Ala)
c.1655A>C (p.Asp552Ala)
2g.237371956T=CA1337623246COL6A3c.3443A= (p.Asp1148=)
c.4061A= (p.Asp1354=)
c.2240A= (p.Asp747=)
c.2840A= (p.Asp947=)
c.3461A= (p.Asp1154=)
c.1655A= (p.Asp552=)
2g.237371957C>ACA351197196COL6A3c.3442G>T (p.Asp1148Tyr)
c.4060G>T (p.Asp1354Tyr)
c.2239G>T (p.Asp747Tyr)
c.2839G>T (p.Asp947Tyr)
c.3460G>T (p.Asp1154Tyr)
c.1654G>T (p.Asp552Tyr)
2g.237371957C=CA1337623247COL6A3c.3442G= (p.Asp1148=)
c.4060G= (p.Asp1354=)
c.2239G= (p.Asp747=)
c.2839G= (p.Asp947=)
c.3460G= (p.Asp1154=)
c.1654G= (p.Asp552=)
2g.237371957C>GCA2189004COL6A3c.3442G>C (p.Asp1148His)
c.4060G>C (p.Asp1354His)
c.2239G>C (p.Asp747His)
c.2839G>C (p.Asp947His)
c.3460G>C (p.Asp1154His)
c.1654G>C (p.Asp552His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371957C>TCA67818905COL6A3c.3442G>A (p.Asp1148Asn)
c.4060G>A (p.Asp1354Asn)
c.2239G>A (p.Asp747Asn)
c.2839G>A (p.Asp947Asn)
c.3460G>A (p.Asp1154Asn)
c.1654G>A (p.Asp552Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.237371958G>ACA2189005COL6A3c.3441C>T (p.Asp1147=)
c.4059C>T (p.Asp1353=)
c.2238C>T (p.Asp746=)
c.2838C>T (p.Asp946=)
c.3459C>T (p.Asp1153=)
c.1653C>T (p.Asp551=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371958G>CCA351197201COL6A3c.3441C>G (p.Asp1147Glu)
c.4059C>G (p.Asp1353Glu)
c.2238C>G (p.Asp746Glu)
c.2838C>G (p.Asp946Glu)
c.3459C>G (p.Asp1153Glu)
c.1653C>G (p.Asp551Glu)
2g.237371958G=CA1337623248COL6A3c.3441C= (p.Asp1147=)
c.4059C= (p.Asp1353=)
c.2238C= (p.Asp746=)
c.2838C= (p.Asp946=)
c.3459C= (p.Asp1153=)
c.1653C= (p.Asp551=)
2g.237371958G>TCA351197203COL6A3c.3441C>A (p.Asp1147Glu)
c.4059C>A (p.Asp1353Glu)
c.2238C>A (p.Asp746Glu)
c.2838C>A (p.Asp946Glu)
c.3459C>A (p.Asp1153Glu)
c.1653C>A (p.Asp551Glu)
 gnomAD v4
2g.237371959T>ACA351197204COL6A3c.3440A>T (p.Asp1147Val)
c.4058A>T (p.Asp1353Val)
c.2237A>T (p.Asp746Val)
c.2837A>T (p.Asp946Val)
c.3458A>T (p.Asp1153Val)
c.1652A>T (p.Asp551Val)
2g.237371959T>CCA351197206COL6A3c.3440A>G (p.Asp1147Gly)
c.4058A>G (p.Asp1353Gly)
c.2237A>G (p.Asp746Gly)
c.2837A>G (p.Asp946Gly)
c.3458A>G (p.Asp1153Gly)
c.1652A>G (p.Asp551Gly)
2g.237371959T>GCA351197207COL6A3c.3440A>C (p.Asp1147Ala)
c.4058A>C (p.Asp1353Ala)
c.2237A>C (p.Asp746Ala)
c.2837A>C (p.Asp946Ala)
c.3458A>C (p.Asp1153Ala)
c.1652A>C (p.Asp551Ala)
 gnomAD v4
2g.237371960C>ACA351197210COL6A3c.3439G>T (p.Asp1147Tyr)
c.4057G>T (p.Asp1353Tyr)
c.2236G>T (p.Asp746Tyr)
c.2836G>T (p.Asp946Tyr)
c.3457G>T (p.Asp1153Tyr)
c.1651G>T (p.Asp551Tyr)
2g.237371960C>GCA351197211COL6A3c.3439G>C (p.Asp1147His)
c.4057G>C (p.Asp1353His)
c.2236G>C (p.Asp746His)
c.2836G>C (p.Asp946His)
c.3457G>C (p.Asp1153His)
c.1651G>C (p.Asp551His)
2g.237371960C>TCA351197208COL6A3c.3439G>A (p.Asp1147Asn)
c.4057G>A (p.Asp1353Asn)
c.2236G>A (p.Asp746Asn)
c.2836G>A (p.Asp946Asn)
c.3457G>A (p.Asp1153Asn)
c.1651G>A (p.Asp551Asn)
2g.237371961C>ACA431711330COL6A3c.3438G>T (p.Val1146=)
c.4056G>T (p.Val1352=)
c.2235G>T (p.Val745=)
c.2835G>T (p.Val945=)
c.3456G>T (p.Val1152=)
c.1650G>T (p.Val550=)
2g.237371961C>GCA431711331COL6A3c.3438G>C (p.Val1146=)
c.4056G>C (p.Val1352=)
c.2235G>C (p.Val745=)
c.2835G>C (p.Val945=)
c.3456G>C (p.Val1152=)
c.1650G>C (p.Val550=)
2g.237371961C>TCA431711333COL6A3c.3438G>A (p.Val1146=)
c.4056G>A (p.Val1352=)
c.2235G>A (p.Val745=)
c.2835G>A (p.Val945=)
c.3456G>A (p.Val1152=)
c.1650G>A (p.Val550=)
 ClinVar gnomAD v4
2g.237371962A>CCA351197212COL6A3c.3437T>G (p.Val1146Gly)
c.4055T>G (p.Val1352Gly)
c.2234T>G (p.Val745Gly)
c.2834T>G (p.Val945Gly)
c.3455T>G (p.Val1152Gly)
c.1649T>G (p.Val550Gly)
 COSMIC COSMIC
2g.237371962A>GCA351197213COL6A3c.3437T>C (p.Val1146Ala)
c.4055T>C (p.Val1352Ala)
c.2234T>C (p.Val745Ala)
c.2834T>C (p.Val945Ala)
c.3455T>C (p.Val1152Ala)
c.1649T>C (p.Val550Ala)
2g.237371962A>TCA351197215COL6A3c.3437T>A (p.Val1146Glu)
c.4055T>A (p.Val1352Glu)
c.2234T>A (p.Val745Glu)
c.2834T>A (p.Val945Glu)
c.3455T>A (p.Val1152Glu)
c.1649T>A (p.Val550Glu)
2g.237371963C>ACA351197217COL6A3c.3436G>T (p.Val1146Leu)
c.4054G>T (p.Val1352Leu)
c.2233G>T (p.Val745Leu)
c.2833G>T (p.Val945Leu)
c.3454G>T (p.Val1152Leu)
c.1648G>T (p.Val550Leu)
 gnomAD v4
2g.237371963C>GCA351197219COL6A3c.3436G>C (p.Val1146Leu)
c.4054G>C (p.Val1352Leu)
c.2233G>C (p.Val745Leu)
c.2833G>C (p.Val945Leu)
c.3454G>C (p.Val1152Leu)
c.1648G>C (p.Val550Leu)
2g.237371963C>TCA351197221COL6A3c.3436G>A (p.Val1146Met)
c.4054G>A (p.Val1352Met)
c.2233G>A (p.Val745Met)
c.2833G>A (p.Val945Met)
c.3454G>A (p.Val1152Met)
c.1648G>A (p.Val550Met)
2g.237371964C>ACA351197223COL6A3c.3435G>T (p.Glu1145Asp)
c.4053G>T (p.Glu1351Asp)
c.2232G>T (p.Glu744Asp)
c.2832G>T (p.Glu944Asp)
c.3453G>T (p.Glu1151Asp)
c.1647G>T (p.Glu549Asp)
2g.237371964C>GCA351197225COL6A3c.3435G>C (p.Glu1145Asp)
c.4053G>C (p.Glu1351Asp)
c.2232G>C (p.Glu744Asp)
c.2832G>C (p.Glu944Asp)
c.3453G>C (p.Glu1151Asp)
c.1647G>C (p.Glu549Asp)
2g.237371964C>TCA431711335COL6A3c.3435G>A (p.Glu1145=)
c.4053G>A (p.Glu1351=)
c.2232G>A (p.Glu744=)
c.2832G>A (p.Glu944=)
c.3453G>A (p.Glu1151=)
c.1647G>A (p.Glu549=)
 gnomAD v4
2g.237371965T>ACA351197227COL6A3c.3434A>T (p.Glu1145Val)
c.4052A>T (p.Glu1351Val)
c.2231A>T (p.Glu744Val)
c.2831A>T (p.Glu944Val)
c.3452A>T (p.Glu1151Val)
c.1646A>T (p.Glu549Val)
2g.237371965T>CCA351197228COL6A3c.3434A>G (p.Glu1145Gly)
c.4052A>G (p.Glu1351Gly)
c.2231A>G (p.Glu744Gly)
c.2831A>G (p.Glu944Gly)
c.3452A>G (p.Glu1151Gly)
c.1646A>G (p.Glu549Gly)
2g.237371965T>GCA351197229COL6A3c.3434A>C (p.Glu1145Ala)
c.4052A>C (p.Glu1351Ala)
c.2231A>C (p.Glu744Ala)
c.2831A>C (p.Glu944Ala)
c.3452A>C (p.Glu1151Ala)
c.1646A>C (p.Glu549Ala)
2g.237371967_237371969delCA2663799097COL6A3c.3432_3434del (p.Asp1144del)
c.4050_4052del (p.Asp1350del)
c.2229_2231del (p.Asp743del)
c.2829_2831del (p.Asp943del)
c.3450_3452del (p.Asp1150del)
c.1644_1646del (p.Asp548del)
 gnomAD v4
2g.237371966C>ACA351197230COL6A3c.3433G>T (p.Glu1145Ter)
c.4051G>T (p.Glu1351Ter)
c.2230G>T (p.Glu744Ter)
c.2830G>T (p.Glu944Ter)
c.3451G>T (p.Glu1151Ter)
c.1645G>T (p.Glu549Ter)
2g.237371966C>GCA351197232COL6A3c.3433G>C (p.Glu1145Gln)
c.4051G>C (p.Glu1351Gln)
c.2230G>C (p.Glu744Gln)
c.2830G>C (p.Glu944Gln)
c.3451G>C (p.Glu1151Gln)
c.1645G>C (p.Glu549Gln)
2g.237371966C>TCA351197234COL6A3c.3433G>A (p.Glu1145Lys)
c.4051G>A (p.Glu1351Lys)
c.2230G>A (p.Glu744Lys)
c.2830G>A (p.Glu944Lys)
c.3451G>A (p.Glu1151Lys)
c.1645G>A (p.Glu549Lys)
2g.237371967A>CCA351197236COL6A3c.3432T>G (p.Asp1144Glu)
c.4050T>G (p.Asp1350Glu)
c.2229T>G (p.Asp743Glu)
c.2829T>G (p.Asp943Glu)
c.3450T>G (p.Asp1150Glu)
c.1644T>G (p.Asp548Glu)
 gnomAD v4
2g.237371967A>GCA431711336COL6A3c.3432T>C (p.Asp1144=)
c.4050T>C (p.Asp1350=)
c.2229T>C (p.Asp743=)
c.2829T>C (p.Asp943=)
c.3450T>C (p.Asp1150=)
c.1644T>C (p.Asp548=)
2g.237371967A>TCA351197238COL6A3c.3432T>A (p.Asp1144Glu)
c.4050T>A (p.Asp1350Glu)
c.2229T>A (p.Asp743Glu)
c.2829T>A (p.Asp943Glu)
c.3450T>A (p.Asp1150Glu)
c.1644T>A (p.Asp548Glu)
2g.237371968T>ACA351197240COL6A3c.3431A>T (p.Asp1144Val)
c.4049A>T (p.Asp1350Val)
c.2228A>T (p.Asp743Val)
c.2828A>T (p.Asp943Val)
c.3449A>T (p.Asp1150Val)
c.1643A>T (p.Asp548Val)
2g.237371968T>CCA351197242COL6A3c.3431A>G (p.Asp1144Gly)
c.4049A>G (p.Asp1350Gly)
c.2228A>G (p.Asp743Gly)
c.2828A>G (p.Asp943Gly)
c.3449A>G (p.Asp1150Gly)
c.1643A>G (p.Asp548Gly)
 ClinVar
2g.237371968T>GCA351197244COL6A3c.3431A>C (p.Asp1144Ala)
c.4049A>C (p.Asp1350Ala)
c.2228A>C (p.Asp743Ala)
c.2828A>C (p.Asp943Ala)
c.3449A>C (p.Asp1150Ala)
c.1643A>C (p.Asp548Ala)
2g.237371969C>ACA351197246COL6A3c.3430G>T (p.Asp1144Tyr)
c.4048G>T (p.Asp1350Tyr)
c.2227G>T (p.Asp743Tyr)
c.2827G>T (p.Asp943Tyr)
c.3448G>T (p.Asp1150Tyr)
c.1642G>T (p.Asp548Tyr)
2g.237371969C=CA1337623249COL6A3c.3430G= (p.Asp1144=)
c.4048G= (p.Asp1350=)
c.2227G= (p.Asp743=)
c.2827G= (p.Asp943=)
c.3448G= (p.Asp1150=)
c.1642G= (p.Asp548=)
2g.237371969C>GCA2189006COL6A3c.3430G>C (p.Asp1144His)
c.4048G>C (p.Asp1350His)
c.2227G>C (p.Asp743His)
c.2827G>C (p.Asp943His)
c.3448G>C (p.Asp1150His)
c.1642G>C (p.Asp548His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371969C>TCA2189007COL6A3c.3430G>A (p.Asp1144Asn)
c.4048G>A (p.Asp1350Asn)
c.2227G>A (p.Asp743Asn)
c.2827G>A (p.Asp943Asn)
c.3448G>A (p.Asp1150Asn)
c.1642G>A (p.Asp548Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371970G>ACA2189008COL6A3c.3429C>T (p.Asp1143=)
c.4047C>T (p.Asp1349=)
c.2226C>T (p.Asp742=)
c.2826C>T (p.Asp942=)
c.3447C>T (p.Asp1149=)
c.1641C>T (p.Asp547=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371970G>CCA351197251COL6A3c.3429C>G (p.Asp1143Glu)
c.4047C>G (p.Asp1349Glu)
c.2226C>G (p.Asp742Glu)
c.2826C>G (p.Asp942Glu)
c.3447C>G (p.Asp1149Glu)
c.1641C>G (p.Asp547Glu)
2g.237371970G=CA1337623250COL6A3c.3429C= (p.Asp1143=)
c.4047C= (p.Asp1349=)
c.2226C= (p.Asp742=)
c.2826C= (p.Asp942=)
c.3447C= (p.Asp1149=)
c.1641C= (p.Asp547=)
2g.237371970G>TCA2189009COL6A3c.3429C>A (p.Asp1143Glu)
c.4047C>A (p.Asp1349Glu)
c.2226C>A (p.Asp742Glu)
c.2826C>A (p.Asp942Glu)
c.3447C>A (p.Asp1149Glu)
c.1641C>A (p.Asp547Glu)
 dbSNP ExAC gnomAD v2
2g.237371971T>ACA351197254COL6A3c.3428A>T (p.Asp1143Val)
c.4046A>T (p.Asp1349Val)
c.2225A>T (p.Asp742Val)
c.2825A>T (p.Asp942Val)
c.3446A>T (p.Asp1149Val)
c.1640A>T (p.Asp547Val)
2g.237371971T>CCA351197256COL6A3c.3428A>G (p.Asp1143Gly)
c.4046A>G (p.Asp1349Gly)
c.2225A>G (p.Asp742Gly)
c.2825A>G (p.Asp942Gly)
c.3446A>G (p.Asp1149Gly)
c.1640A>G (p.Asp547Gly)
 gnomAD v4
2g.237371971T>GCA351197258COL6A3c.3428A>C (p.Asp1143Ala)
c.4046A>C (p.Asp1349Ala)
c.2225A>C (p.Asp742Ala)
c.2825A>C (p.Asp942Ala)
c.3446A>C (p.Asp1149Ala)
c.1640A>C (p.Asp547Ala)
2g.237371972C>ACA2189010COL6A3c.3427G>T (p.Asp1143Tyr)
c.4045G>T (p.Asp1349Tyr)
c.2224G>T (p.Asp742Tyr)
c.2824G>T (p.Asp942Tyr)
c.3445G>T (p.Asp1149Tyr)
c.1639G>T (p.Asp547Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371972C=CA1337623251COL6A3c.3427G= (p.Asp1143=)
c.4045G= (p.Asp1349=)
c.2224G= (p.Asp742=)
c.2824G= (p.Asp942=)
c.3445G= (p.Asp1149=)
c.1639G= (p.Asp547=)
2g.237371972C>GCA351197262COL6A3c.3427G>C (p.Asp1143His)
c.4045G>C (p.Asp1349His)
c.2224G>C (p.Asp742His)
c.2824G>C (p.Asp942His)
c.3445G>C (p.Asp1149His)
c.1639G>C (p.Asp547His)
2g.237371972C>TCA351197260COL6A3c.3427G>A (p.Asp1143Asn)
c.4045G>A (p.Asp1349Asn)
c.2224G>A (p.Asp742Asn)
c.2824G>A (p.Asp942Asn)
c.3445G>A (p.Asp1149Asn)
c.1639G>A (p.Asp547Asn)
2g.237371973delCA2663799107COL6A3c.3426del (p.Asp1143ThrfsTer?)
c.4044del (p.Asp1349ThrfsTer?)
c.2223del (p.Asp742ThrfsTer?)
c.2823del (p.Asp942ThrfsTer?)
c.3444del (p.Asp1149ThrfsTer?)
c.1638del (p.Asp547ThrfsTer?)
 gnomAD v4
2g.237371973A>CCA431711341COL6A3c.3426T>G (p.Ser1142=)
c.4044T>G (p.Ser1348=)
c.2223T>G (p.Ser741=)
c.2823T>G (p.Ser941=)
c.3444T>G (p.Ser1148=)
c.1638T>G (p.Ser546=)
2g.237371973A>GCA431711342COL6A3c.3426T>C (p.Ser1142=)
c.4044T>C (p.Ser1348=)
c.2223T>C (p.Ser741=)
c.2823T>C (p.Ser941=)
c.3444T>C (p.Ser1148=)
c.1638T>C (p.Ser546=)
2g.237371973A>TCA431711343COL6A3c.3426T>A (p.Ser1142=)
c.4044T>A (p.Ser1348=)
c.2223T>A (p.Ser741=)
c.2823T>A (p.Ser941=)
c.3444T>A (p.Ser1148=)
c.1638T>A (p.Ser546=)
2g.237371974G>ACA351197265COL6A3c.3425C>T (p.Ser1142Phe)
c.4043C>T (p.Ser1348Phe)
c.2222C>T (p.Ser741Phe)
c.2822C>T (p.Ser941Phe)
c.3443C>T (p.Ser1148Phe)
c.1637C>T (p.Ser546Phe)
2g.237371974G>CCA351197269COL6A3c.3425C>G (p.Ser1142Cys)
c.4043C>G (p.Ser1348Cys)
c.2222C>G (p.Ser741Cys)
c.2822C>G (p.Ser941Cys)
c.3443C>G (p.Ser1148Cys)
c.1637C>G (p.Ser546Cys)
 gnomAD v4
2g.237371974G>TCA351197267COL6A3c.3425C>A (p.Ser1142Tyr)
c.4043C>A (p.Ser1348Tyr)
c.2222C>A (p.Ser741Tyr)
c.2822C>A (p.Ser941Tyr)
c.3443C>A (p.Ser1148Tyr)
c.1637C>A (p.Ser546Tyr)
2g.237371975A=CA1337623252COL6A3c.3424T= (p.Ser1142=)
c.4042T= (p.Ser1348=)
c.2221T= (p.Ser741=)
c.2821T= (p.Ser941=)
c.3442T= (p.Ser1148=)
c.1636T= (p.Ser546=)
2g.237371975A>CCA351197271COL6A3c.3424T>G (p.Ser1142Ala)
c.4042T>G (p.Ser1348Ala)
c.2221T>G (p.Ser741Ala)
c.2821T>G (p.Ser941Ala)
c.3442T>G (p.Ser1148Ala)
c.1636T>G (p.Ser546Ala)
2g.237371975A>GCA351197272COL6A3c.3424T>C (p.Ser1142Pro)
c.4042T>C (p.Ser1348Pro)
c.2221T>C (p.Ser741Pro)
c.2821T>C (p.Ser941Pro)
c.3442T>C (p.Ser1148Pro)
c.1636T>C (p.Ser546Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237371975A>TCA351197274COL6A3c.3424T>A (p.Ser1142Thr)
c.4042T>A (p.Ser1348Thr)
c.2221T>A (p.Ser741Thr)
c.2821T>A (p.Ser941Thr)
c.3442T>A (p.Ser1148Thr)
c.1636T>A (p.Ser546Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.237371976C>ACA2189012COL6A3c.3423G>T (p.Lys1141Asn)
c.4041G>T (p.Lys1347Asn)
c.2220G>T (p.Lys740Asn)
c.2820G>T (p.Lys940Asn)
c.3441G>T (p.Lys1147Asn)
c.1635G>T (p.Lys545Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371976C=CA1337623253COL6A3c.3423G= (p.Lys1141=)
c.4041G= (p.Lys1347=)
c.2220G= (p.Lys740=)
c.2820G= (p.Lys940=)
c.3441G= (p.Lys1147=)
c.1635G= (p.Lys545=)
2g.237371976C>GCA351197277COL6A3c.3423G>C (p.Lys1141Asn)
c.4041G>C (p.Lys1347Asn)
c.2220G>C (p.Lys740Asn)
c.2820G>C (p.Lys940Asn)
c.3441G>C (p.Lys1147Asn)
c.1635G>C (p.Lys545Asn)
2g.237371976C>TCA2189011COL6A3c.3423G>A (p.Lys1141=)
c.4041G>A (p.Lys1347=)
c.2220G>A (p.Lys740=)
c.2820G>A (p.Lys940=)
c.3441G>A (p.Lys1147=)
c.1635G>A (p.Lys545=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237371977T>ACA351197280COL6A3c.3422A>T (p.Lys1141Met)
c.4040A>T (p.Lys1347Met)
c.2219A>T (p.Lys740Met)
c.2819A>T (p.Lys940Met)
c.3440A>T (p.Lys1147Met)
c.1634A>T (p.Lys545Met)
2g.237371977T>CCA351197282COL6A3c.3422A>G (p.Lys1141Arg)
c.4040A>G (p.Lys1347Arg)
c.2219A>G (p.Lys740Arg)
c.2819A>G (p.Lys940Arg)
c.3440A>G (p.Lys1147Arg)
c.1634A>G (p.Lys545Arg)
2g.237371977T>GCA351197285COL6A3c.3422A>C (p.Lys1141Thr)
c.4040A>C (p.Lys1347Thr)
c.2219A>C (p.Lys740Thr)
c.2819A>C (p.Lys940Thr)
c.3440A>C (p.Lys1147Thr)
c.1634A>C (p.Lys545Thr)
2g.237371978T>ACA351197286COL6A3c.3421A>T (p.Lys1141Ter)
c.4039A>T (p.Lys1347Ter)
c.2218A>T (p.Lys740Ter)
c.2818A>T (p.Lys940Ter)
c.3439A>T (p.Lys1147Ter)
c.1633A>T (p.Lys545Ter)
2g.237371978T>CCA351197288COL6A3c.3421A>G (p.Lys1141Glu)
c.4039A>G (p.Lys1347Glu)
c.2218A>G (p.Lys740Glu)
c.2818A>G (p.Lys940Glu)
c.3439A>G (p.Lys1147Glu)
c.1633A>G (p.Lys545Glu)
2g.237371978T>GCA351197289COL6A3c.3421A>C (p.Lys1141Gln)
c.4039A>C (p.Lys1347Gln)
c.2218A>C (p.Lys740Gln)
c.2818A>C (p.Lys940Gln)
c.3439A>C (p.Lys1147Gln)
c.1633A>C (p.Lys545Gln)
2g.237371979T>ACA431711345COL6A3c.3420A>T (p.Gly1140=)
c.4038A>T (p.Gly1346=)
c.2217A>T (p.Gly739=)
c.2817A>T (p.Gly939=)
c.3438A>T (p.Gly1146=)
c.1632A>T (p.Gly544=)
 gnomAD v4
2g.237371979T>CCA431711348COL6A3c.3420A>G (p.Gly1140=)
c.4038A>G (p.Gly1346=)
c.2217A>G (p.Gly739=)
c.2817A>G (p.Gly939=)
c.3438A>G (p.Gly1146=)
c.1632A>G (p.Gly544=)
 dbSNP gnomAD v2 gnomAD v4
2g.237371979T>GCA2189013COL6A3c.3420A>C (p.Gly1140=)
c.4038A>C (p.Gly1346=)
c.2217A>C (p.Gly739=)
c.2817A>C (p.Gly939=)
c.3438A>C (p.Gly1146=)
c.1632A>C (p.Gly544=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371979T=CA1337623254COL6A3c.3420A= (p.Gly1140=)
c.4038A= (p.Gly1346=)
c.2217A= (p.Gly739=)
c.2817A= (p.Gly939=)
c.3438A= (p.Gly1146=)
c.1632A= (p.Gly544=)
2g.237371980C>ACA351197296COL6A3c.3419G>T (p.Gly1140Val)
c.4037G>T (p.Gly1346Val)
c.2216G>T (p.Gly739Val)
c.2816G>T (p.Gly939Val)
c.3437G>T (p.Gly1146Val)
c.1631G>T (p.Gly544Val)
2g.237371980C>GCA351197293COL6A3c.3419G>C (p.Gly1140Ala)
c.4037G>C (p.Gly1346Ala)
c.2216G>C (p.Gly739Ala)
c.2816G>C (p.Gly939Ala)
c.3437G>C (p.Gly1146Ala)
c.1631G>C (p.Gly544Ala)
2g.237371980C>TCA351197292COL6A3c.3419G>A (p.Gly1140Glu)
c.4037G>A (p.Gly1346Glu)
c.2216G>A (p.Gly739Glu)
c.2816G>A (p.Gly939Glu)
c.3437G>A (p.Gly1146Glu)
c.1631G>A (p.Gly544Glu)
2g.237371981C>ACA351197298COL6A3c.3418G>T (p.Gly1140Ter)
c.4036G>T (p.Gly1346Ter)
c.2215G>T (p.Gly739Ter)
c.2815G>T (p.Gly939Ter)
c.3436G>T (p.Gly1146Ter)
c.1630G>T (p.Gly544Ter)
2g.237371981C>GCA351197300COL6A3c.3418G>C (p.Gly1140Arg)
c.4036G>C (p.Gly1346Arg)
c.2215G>C (p.Gly739Arg)
c.2815G>C (p.Gly939Arg)
c.3436G>C (p.Gly1146Arg)
c.1630G>C (p.Gly544Arg)
2g.237371981C>TCA351197301COL6A3c.3418G>A (p.Gly1140Arg)
c.4036G>A (p.Gly1346Arg)
c.2215G>A (p.Gly739Arg)
c.2815G>A (p.Gly939Arg)
c.3436G>A (p.Gly1146Arg)
c.1630G>A (p.Gly544Arg)
 COSMIC COSMIC
2g.237371982A>CCA431711354COL6A3c.3417T>G (p.Ser1139=)
c.4035T>G (p.Ser1345=)
c.2214T>G (p.Ser738=)
c.2814T>G (p.Ser938=)
c.3435T>G (p.Ser1145=)
c.1629T>G (p.Ser543=)
2g.237371982A>GCA431711350COL6A3c.3417T>C (p.Ser1139=)
c.4035T>C (p.Ser1345=)
c.2214T>C (p.Ser738=)
c.2814T>C (p.Ser938=)
c.3435T>C (p.Ser1145=)
c.1629T>C (p.Ser543=)
 dbSNP
2g.237371982A>TCA431711352COL6A3c.3417T>A (p.Ser1139=)
c.4035T>A (p.Ser1345=)
c.2214T>A (p.Ser738=)
c.2814T>A (p.Ser938=)
c.3435T>A (p.Ser1145=)
c.1629T>A (p.Ser543=)
2g.237371983G>ACA351197303COL6A3c.3416C>T (p.Ser1139Phe)
c.4034C>T (p.Ser1345Phe)
c.2213C>T (p.Ser738Phe)
c.2813C>T (p.Ser938Phe)
c.3434C>T (p.Ser1145Phe)
c.1628C>T (p.Ser543Phe)
2g.237371983G>CCA351197305COL6A3c.3416C>G (p.Ser1139Cys)
c.4034C>G (p.Ser1345Cys)
c.2213C>G (p.Ser738Cys)
c.2813C>G (p.Ser938Cys)
c.3434C>G (p.Ser1145Cys)
c.1628C>G (p.Ser543Cys)
2g.237371983G>TCA351197306COL6A3c.3416C>A (p.Ser1139Tyr)
c.4034C>A (p.Ser1345Tyr)
c.2213C>A (p.Ser738Tyr)
c.2813C>A (p.Ser938Tyr)
c.3434C>A (p.Ser1145Tyr)
c.1628C>A (p.Ser543Tyr)
2g.237371984A>CCA351197308COL6A3c.3415T>G (p.Ser1139Ala)
c.4033T>G (p.Ser1345Ala)
c.2212T>G (p.Ser738Ala)
c.2812T>G (p.Ser938Ala)
c.3433T>G (p.Ser1145Ala)
c.1627T>G (p.Ser543Ala)
2g.237371984A>GCA351197310COL6A3c.3415T>C (p.Ser1139Pro)
c.4033T>C (p.Ser1345Pro)
c.2212T>C (p.Ser738Pro)
c.2812T>C (p.Ser938Pro)
c.3433T>C (p.Ser1145Pro)
c.1627T>C (p.Ser543Pro)
2g.237371984A>TCA351197312COL6A3c.3415T>A (p.Ser1139Thr)
c.4033T>A (p.Ser1345Thr)
c.2212T>A (p.Ser738Thr)
c.2812T>A (p.Ser938Thr)
c.3433T>A (p.Ser1145Thr)
c.1627T>A (p.Ser543Thr)
2g.237371985C>ACA431711355COL6A3c.3414G>T (p.Ser1138=)
c.4032G>T (p.Ser1344=)
c.2211G>T (p.Ser737=)
c.2811G>T (p.Ser937=)
c.3432G>T (p.Ser1144=)
c.1626G>T (p.Ser542=)
2g.237371985C=CA1337623255COL6A3c.3414G= (p.Ser1138=)
c.4032G= (p.Ser1344=)
c.2211G= (p.Ser737=)
c.2811G= (p.Ser937=)
c.3432G= (p.Ser1144=)
c.1626G= (p.Ser542=)
2g.237371985C>GCA431711356COL6A3c.3414G>C (p.Ser1138=)
c.4032G>C (p.Ser1344=)
c.2211G>C (p.Ser737=)
c.2811G>C (p.Ser937=)
c.3432G>C (p.Ser1144=)
c.1626G>C (p.Ser542=)
2g.237371985C>TCA2189014COL6A3c.3414G>A (p.Ser1138=)
c.4032G>A (p.Ser1344=)
c.2211G>A (p.Ser737=)
c.2811G>A (p.Ser937=)
c.3432G>A (p.Ser1144=)
c.1626G>A (p.Ser542=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371986G>ACA67818973COL6A3c.3413C>T (p.Ser1138Leu)
c.4031C>T (p.Ser1344Leu)
c.2210C>T (p.Ser737Leu)
c.2810C>T (p.Ser937Leu)
c.3431C>T (p.Ser1144Leu)
c.1625C>T (p.Ser542Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237371986G>CCA351197315COL6A3c.3413C>G (p.Ser1138Trp)
c.4031C>G (p.Ser1344Trp)
c.2210C>G (p.Ser737Trp)
c.2810C>G (p.Ser937Trp)
c.3431C>G (p.Ser1144Trp)
c.1625C>G (p.Ser542Trp)
 dbSNP
2g.237371986G=CA1337623256COL6A3c.3413C= (p.Ser1138=)
c.4031C= (p.Ser1344=)
c.2210C= (p.Ser737=)
c.2810C= (p.Ser937=)
c.3431C= (p.Ser1144=)
c.1625C= (p.Ser542=)
2g.237371986G>TCA351197317COL6A3c.3413C>A (p.Ser1138Ter)
c.4031C>A (p.Ser1344Ter)
c.2210C>A (p.Ser737Ter)
c.2810C>A (p.Ser937Ter)
c.3431C>A (p.Ser1144Ter)
c.1625C>A (p.Ser542Ter)
2g.237371987A>CCA351197320COL6A3c.3412T>G (p.Ser1138Ala)
c.4030T>G (p.Ser1344Ala)
c.2209T>G (p.Ser737Ala)
c.2809T>G (p.Ser937Ala)
c.3430T>G (p.Ser1144Ala)
c.1624T>G (p.Ser542Ala)
2g.237371987A>GCA351197321COL6A3c.3412T>C (p.Ser1138Pro)
c.4030T>C (p.Ser1344Pro)
c.2209T>C (p.Ser737Pro)
c.2809T>C (p.Ser937Pro)
c.3430T>C (p.Ser1144Pro)
c.1624T>C (p.Ser542Pro)
 gnomAD v4
2g.237371987A>TCA351197319COL6A3c.3412T>A (p.Ser1138Thr)
c.4030T>A (p.Ser1344Thr)
c.2209T>A (p.Ser737Thr)
c.2809T>A (p.Ser937Thr)
c.3430T>A (p.Ser1144Thr)
c.1624T>A (p.Ser542Thr)
2g.237371988G>ACA431711357COL6A3c.3411C>T (p.Ile1137=)
c.4029C>T (p.Ile1343=)
c.2208C>T (p.Ile736=)
c.2808C>T (p.Ile936=)
c.3429C>T (p.Ile1143=)
c.1623C>T (p.Ile541=)
2g.237371988G>CCA351197322COL6A3c.3411C>G (p.Ile1137Met)
c.4029C>G (p.Ile1343Met)
c.2208C>G (p.Ile736Met)
c.2808C>G (p.Ile936Met)
c.3429C>G (p.Ile1143Met)
c.1623C>G (p.Ile541Met)
2g.237371988G>TCA431711358COL6A3c.3411C>A (p.Ile1137=)
c.4029C>A (p.Ile1343=)
c.2208C>A (p.Ile736=)
c.2808C>A (p.Ile936=)
c.3429C>A (p.Ile1143=)
c.1623C>A (p.Ile541=)
2g.237371989A>CCA351197325COL6A3c.3410T>G (p.Ile1137Ser)
c.4028T>G (p.Ile1343Ser)
c.2207T>G (p.Ile736Ser)
c.2807T>G (p.Ile936Ser)
c.3428T>G (p.Ile1143Ser)
c.1622T>G (p.Ile541Ser)
2g.237371989A>GCA351197330COL6A3c.3410T>C (p.Ile1137Thr)
c.4028T>C (p.Ile1343Thr)
c.2207T>C (p.Ile736Thr)
c.2807T>C (p.Ile936Thr)
c.3428T>C (p.Ile1143Thr)
c.1622T>C (p.Ile541Thr)
2g.237371989A>TCA351197332COL6A3c.3410T>A (p.Ile1137Asn)
c.4028T>A (p.Ile1343Asn)
c.2207T>A (p.Ile736Asn)
c.2807T>A (p.Ile936Asn)
c.3428T>A (p.Ile1143Asn)
c.1622T>A (p.Ile541Asn)
2g.237371990T>ACA351197333COL6A3c.3409A>T (p.Ile1137Phe)
c.4027A>T (p.Ile1343Phe)
c.2206A>T (p.Ile736Phe)
c.2806A>T (p.Ile936Phe)
c.3427A>T (p.Ile1143Phe)
c.1621A>T (p.Ile541Phe)
2g.237371990T>CCA351197334COL6A3c.3409A>G (p.Ile1137Val)
c.4027A>G (p.Ile1343Val)
c.2206A>G (p.Ile736Val)
c.2806A>G (p.Ile936Val)
c.3427A>G (p.Ile1143Val)
c.1621A>G (p.Ile541Val)
2g.237371990T>GCA351197341COL6A3c.3409A>C (p.Ile1137Leu)
c.4027A>C (p.Ile1343Leu)
c.2206A>C (p.Ile736Leu)
c.2806A>C (p.Ile936Leu)
c.3427A>C (p.Ile1143Leu)
c.1621A>C (p.Ile541Leu)
 dbSNP gnomAD v4
2g.237371990T=CA1337623257COL6A3c.3409A= (p.Ile1137=)
c.4027A= (p.Ile1343=)
c.2206A= (p.Ile736=)
c.2806A= (p.Ile936=)
c.3427A= (p.Ile1143=)
c.1621A= (p.Ile541=)
2g.237371991G>ACA431711360COL6A3c.3408C>T (p.Leu1136=)
c.4026C>T (p.Leu1342=)
c.2205C>T (p.Leu735=)
c.2805C>T (p.Leu935=)
c.3426C>T (p.Leu1142=)
c.1620C>T (p.Leu540=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371991G>CCA431711362COL6A3c.3408C>G (p.Leu1136=)
c.4026C>G (p.Leu1342=)
c.2205C>G (p.Leu735=)
c.2805C>G (p.Leu935=)
c.3426C>G (p.Leu1142=)
c.1620C>G (p.Leu540=)
2g.237371991G=CA1337623258COL6A3c.3408C= (p.Leu1136=)
c.4026C= (p.Leu1342=)
c.2205C= (p.Leu735=)
c.2805C= (p.Leu935=)
c.3426C= (p.Leu1142=)
c.1620C= (p.Leu540=)
2g.237371991G>TCA431711361COL6A3c.3408C>A (p.Leu1136=)
c.4026C>A (p.Leu1342=)
c.2205C>A (p.Leu735=)
c.2805C>A (p.Leu935=)
c.3426C>A (p.Leu1142=)
c.1620C>A (p.Leu540=)
2g.237371992A>CCA351197342COL6A3c.3407T>G (p.Leu1136Arg)
c.4025T>G (p.Leu1342Arg)
c.2204T>G (p.Leu735Arg)
c.2804T>G (p.Leu935Arg)
c.3425T>G (p.Leu1142Arg)
c.1619T>G (p.Leu540Arg)
 COSMIC
2g.237371992A>GCA351197343COL6A3c.3407T>C (p.Leu1136Pro)
c.4025T>C (p.Leu1342Pro)
c.2204T>C (p.Leu735Pro)
c.2804T>C (p.Leu935Pro)
c.3425T>C (p.Leu1142Pro)
c.1619T>C (p.Leu540Pro)
2g.237371992A>TCA351197344COL6A3c.3407T>A (p.Leu1136His)
c.4025T>A (p.Leu1342His)
c.2204T>A (p.Leu735His)
c.2804T>A (p.Leu935His)
c.3425T>A (p.Leu1142His)
c.1619T>A (p.Leu540His)
2g.237371993G>ACA2189015COL6A3c.3406C>T (p.Leu1136Phe)
c.4024C>T (p.Leu1342Phe)
c.2203C>T (p.Leu735Phe)
c.2803C>T (p.Leu935Phe)
c.3424C>T (p.Leu1142Phe)
c.1618C>T (p.Leu540Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371993G>CCA351197345COL6A3c.3406C>G (p.Leu1136Val)
c.4024C>G (p.Leu1342Val)
c.2203C>G (p.Leu735Val)
c.2803C>G (p.Leu935Val)
c.3424C>G (p.Leu1142Val)
c.1618C>G (p.Leu540Val)
2g.237371993G=CA1337623259COL6A3c.3406C= (p.Leu1136=)
c.4024C= (p.Leu1342=)
c.2203C= (p.Leu735=)
c.2803C= (p.Leu935=)
c.3424C= (p.Leu1142=)
c.1618C= (p.Leu540=)
2g.237371993G>TCA351197346COL6A3c.3406C>A (p.Leu1136Ile)
c.4024C>A (p.Leu1342Ile)
c.2203C>A (p.Leu735Ile)
c.2803C>A (p.Leu935Ile)
c.3424C>A (p.Leu1142Ile)
c.1618C>A (p.Leu540Ile)
2g.237371994G>ACA431711363COL6A3c.3405C>T (p.Val1135=)
c.4023C>T (p.Val1341=)
c.2202C>T (p.Val734=)
c.2802C>T (p.Val934=)
c.3423C>T (p.Val1141=)
c.1617C>T (p.Val539=)
 dbSNP gnomAD v4
2g.237371994G>CCA431711364COL6A3c.3405C>G (p.Val1135=)
c.4023C>G (p.Val1341=)
c.2202C>G (p.Val734=)
c.2802C>G (p.Val934=)
c.3423C>G (p.Val1141=)
c.1617C>G (p.Val539=)
2g.237371994G=CA1337623260COL6A3c.3405C= (p.Val1135=)
c.4023C= (p.Val1341=)
c.2202C= (p.Val734=)
c.2802C= (p.Val934=)
c.3423C= (p.Val1141=)
c.1617C= (p.Val539=)
2g.237371994G>TCA431711365COL6A3c.3405C>A (p.Val1135=)
c.4023C>A (p.Val1341=)
c.2202C>A (p.Val734=)
c.2802C>A (p.Val934=)
c.3423C>A (p.Val1141=)
c.1617C>A (p.Val539=)
2g.237371995A>CCA351197347COL6A3c.3404T>G (p.Val1135Gly)
c.4022T>G (p.Val1341Gly)
c.2201T>G (p.Val734Gly)
c.2801T>G (p.Val934Gly)
c.3422T>G (p.Val1141Gly)
c.1616T>G (p.Val539Gly)
2g.237371995A>GCA351197354COL6A3c.3404T>C (p.Val1135Ala)
c.4022T>C (p.Val1341Ala)
c.2201T>C (p.Val734Ala)
c.2801T>C (p.Val934Ala)
c.3422T>C (p.Val1141Ala)
c.1616T>C (p.Val539Ala)
2g.237371995A>TCA351197350COL6A3c.3404T>A (p.Val1135Asp)
c.4022T>A (p.Val1341Asp)
c.2201T>A (p.Val734Asp)
c.2801T>A (p.Val934Asp)
c.3422T>A (p.Val1141Asp)
c.1616T>A (p.Val539Asp)
 dbSNP
2g.237371996C>ACA351197358COL6A3c.3403G>T (p.Val1135Phe)
c.4021G>T (p.Val1341Phe)
c.2200G>T (p.Val734Phe)
c.2800G>T (p.Val934Phe)
c.3421G>T (p.Val1141Phe)
c.1615G>T (p.Val539Phe)
2g.237371996C=CA1337623261COL6A3c.3403G= (p.Val1135=)
c.4021G= (p.Val1341=)
c.2200G= (p.Val734=)
c.2800G= (p.Val934=)
c.3421G= (p.Val1141=)
c.1615G= (p.Val539=)
2g.237371996C>GCA351197362COL6A3c.3403G>C (p.Val1135Leu)
c.4021G>C (p.Val1341Leu)
c.2200G>C (p.Val734Leu)
c.2800G>C (p.Val934Leu)
c.3421G>C (p.Val1141Leu)
c.1615G>C (p.Val539Leu)
2g.237371996C>TCA351197366COL6A3c.3403G>A (p.Val1135Ile)
c.4021G>A (p.Val1341Ile)
c.2200G>A (p.Val734Ile)
c.2800G>A (p.Val934Ile)
c.3421G>A (p.Val1141Ile)
c.1615G>A (p.Val539Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237371997C>ACA431711369COL6A3c.3402G>T (p.Leu1134=)
c.4020G>T (p.Leu1340=)
c.2199G>T (p.Leu733=)
c.2799G>T (p.Leu933=)
c.3420G>T (p.Leu1140=)
c.1614G>T (p.Leu538=)
 gnomAD v4
2g.237371997C>GCA431711370COL6A3c.3402G>C (p.Leu1134=)
c.4020G>C (p.Leu1340=)
c.2199G>C (p.Leu733=)
c.2799G>C (p.Leu933=)
c.3420G>C (p.Leu1140=)
c.1614G>C (p.Leu538=)
 gnomAD v4
2g.237371997C>TCA431711371COL6A3c.3402G>A (p.Leu1134=)
c.4020G>A (p.Leu1340=)
c.2199G>A (p.Leu733=)
c.2799G>A (p.Leu933=)
c.3420G>A (p.Leu1140=)
c.1614G>A (p.Leu538=)
2g.237371998A>CCA351197368COL6A3c.3401T>G (p.Leu1134Arg)
c.4019T>G (p.Leu1340Arg)
c.2198T>G (p.Leu733Arg)
c.2798T>G (p.Leu933Arg)
c.3419T>G (p.Leu1140Arg)
c.1613T>G (p.Leu538Arg)
2g.237371998A>GCA351197369COL6A3c.3401T>C (p.Leu1134Pro)
c.4019T>C (p.Leu1340Pro)
c.2198T>C (p.Leu733Pro)
c.2798T>C (p.Leu933Pro)
c.3419T>C (p.Leu1140Pro)
c.1613T>C (p.Leu538Pro)
 ClinVar
2g.237371998A>TCA351197371COL6A3c.3401T>A (p.Leu1134Gln)
c.4019T>A (p.Leu1340Gln)
c.2198T>A (p.Leu733Gln)
c.2798T>A (p.Leu933Gln)
c.3419T>A (p.Leu1140Gln)
c.1613T>A (p.Leu538Gln)
2g.237371999G>ACA2189016COL6A3c.3400C>T (p.Leu1134=)
c.4018C>T (p.Leu1340=)
c.2197C>T (p.Leu733=)
c.2797C>T (p.Leu933=)
c.3418C>T (p.Leu1140=)
c.1612C>T (p.Leu538=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237371999G>CCA351197375COL6A3c.3400C>G (p.Leu1134Val)
c.4018C>G (p.Leu1340Val)
c.2197C>G (p.Leu733Val)
c.2797C>G (p.Leu933Val)
c.3418C>G (p.Leu1140Val)
c.1612C>G (p.Leu538Val)
2g.237371999G=CA1337623262COL6A3c.3400C= (p.Leu1134=)
c.4018C= (p.Leu1340=)
c.2197C= (p.Leu733=)
c.2797C= (p.Leu933=)
c.3418C= (p.Leu1140=)
c.1612C= (p.Leu538=)
2g.237371999G>TCA351197378COL6A3c.3400C>A (p.Leu1134Met)
c.4018C>A (p.Leu1340Met)
c.2197C>A (p.Leu733Met)
c.2797C>A (p.Leu933Met)
c.3418C>A (p.Leu1140Met)
c.1612C>A (p.Leu538Met)
2g.237372000G>ACA2189017COL6A3c.3399C>T (p.Phe1133=)
c.4017C>T (p.Phe1339=)
c.2196C>T (p.Phe732=)
c.2796C>T (p.Phe932=)
c.3417C>T (p.Phe1139=)
c.1611C>T (p.Phe537=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.237372000G>CCA351197394COL6A3c.3399C>G (p.Phe1133Leu)
c.4017C>G (p.Phe1339Leu)
c.2196C>G (p.Phe732Leu)
c.2796C>G (p.Phe932Leu)
c.3417C>G (p.Phe1139Leu)
c.1611C>G (p.Phe537Leu)
2g.237372000G=CA1337623263COL6A3c.3399C= (p.Phe1133=)
c.4017C= (p.Phe1339=)
c.2196C= (p.Phe732=)
c.2796C= (p.Phe932=)
c.3417C= (p.Phe1139=)
c.1611C= (p.Phe537=)
2g.237372000G>TCA351197392COL6A3c.3399C>A (p.Phe1133Leu)
c.4017C>A (p.Phe1339Leu)
c.2196C>A (p.Phe732Leu)
c.2796C>A (p.Phe932Leu)
c.3417C>A (p.Phe1139Leu)
c.1611C>A (p.Phe537Leu)
 dbSNP
2g.237372001A=CA1337623264COL6A3c.3398T= (p.Phe1133=)
c.4016T= (p.Phe1339=)
c.2195T= (p.Phe732=)
c.2795T= (p.Phe932=)
c.3416T= (p.Phe1139=)
c.1610T= (p.Phe537=)
2g.237372001A>CCA351197398COL6A3c.3398T>G (p.Phe1133Cys)
c.4016T>G (p.Phe1339Cys)
c.2195T>G (p.Phe732Cys)
c.2795T>G (p.Phe932Cys)
c.3416T>G (p.Phe1139Cys)
c.1610T>G (p.Phe537Cys)
2g.237372001A>GCA351197401COL6A3c.3398T>C (p.Phe1133Ser)
c.4016T>C (p.Phe1339Ser)
c.2195T>C (p.Phe732Ser)
c.2795T>C (p.Phe932Ser)
c.3416T>C (p.Phe1139Ser)
c.1610T>C (p.Phe537Ser)
2g.237372001A>TCA351197402COL6A3c.3398T>A (p.Phe1133Tyr)
c.4016T>A (p.Phe1339Tyr)
c.2195T>A (p.Phe732Tyr)
c.2795T>A (p.Phe932Tyr)
c.3416T>A (p.Phe1139Tyr)
c.1610T>A (p.Phe537Tyr)
 dbSNP
2g.237372002A>CCA351197403COL6A3c.3397T>G (p.Phe1133Val)
c.4015T>G (p.Phe1339Val)
c.2194T>G (p.Phe732Val)
c.2794T>G (p.Phe932Val)
c.3415T>G (p.Phe1139Val)
c.1609T>G (p.Phe537Val)
2g.237372002A>GCA351197406COL6A3c.3397T>C (p.Phe1133Leu)
c.4015T>C (p.Phe1339Leu)
c.2194T>C (p.Phe732Leu)
c.2794T>C (p.Phe932Leu)
c.3415T>C (p.Phe1139Leu)
c.1609T>C (p.Phe537Leu)
2g.237372002A>TCA351197410COL6A3c.3397T>A (p.Phe1133Ile)
c.4015T>A (p.Phe1339Ile)
c.2194T>A (p.Phe732Ile)
c.2794T>A (p.Phe932Ile)
c.3415T>A (p.Phe1139Ile)
c.1609T>A (p.Phe537Ile)
2g.237372003C>ACA351197411COL6A3c.3396G>T (p.Gln1132His)
c.4014G>T (p.Gln1338His)
c.2193G>T (p.Gln731His)
c.2793G>T (p.Gln931His)
c.3414G>T (p.Gln1138His)
c.1608G>T (p.Gln536His)
2g.237372003C>GCA351197412COL6A3c.3396G>C (p.Gln1132His)
c.4014G>C (p.Gln1338His)
c.2193G>C (p.Gln731His)
c.2793G>C (p.Gln931His)
c.3414G>C (p.Gln1138His)
c.1608G>C (p.Gln536His)
2g.237372003C>TCA431711375COL6A3c.3396G>A (p.Gln1132=)
c.4014G>A (p.Gln1338=)
c.2193G>A (p.Gln731=)
c.2793G>A (p.Gln931=)
c.3414G>A (p.Gln1138=)
c.1608G>A (p.Gln536=)
 gnomAD v4
2g.237372004T>ACA351197418COL6A3c.3395A>T (p.Gln1132Leu)
c.4013A>T (p.Gln1338Leu)
c.2192A>T (p.Gln731Leu)
c.2792A>T (p.Gln931Leu)
c.3413A>T (p.Gln1138Leu)
c.1607A>T (p.Gln536Leu)
2g.237372004T>CCA351197421COL6A3c.3395A>G (p.Gln1132Arg)
c.4013A>G (p.Gln1338Arg)
c.2192A>G (p.Gln731Arg)
c.2792A>G (p.Gln931Arg)
c.3413A>G (p.Gln1138Arg)
c.1607A>G (p.Gln536Arg)
2g.237372004T>GCA351197423COL6A3c.3395A>C (p.Gln1132Pro)
c.4013A>C (p.Gln1338Pro)
c.2192A>C (p.Gln731Pro)
c.2792A>C (p.Gln931Pro)
c.3413A>C (p.Gln1138Pro)
c.1607A>C (p.Gln536Pro)
2g.237372009_237372027delCA2663799118COL6A3c.3377_3395del (p.Ile1126SerfsTer?)
c.3995_4013del (p.Ile1332SerfsTer?)
c.2174_2192del (p.Ile725SerfsTer?)
c.2774_2792del (p.Ile925SerfsTer?)
c.3395_3413del (p.Ile1132SerfsTer?)
c.1589_1607del (p.Ile530SerfsTer?)
 gnomAD v4
2g.237372005G>ACA351197429COL6A3c.3394C>T (p.Gln1132Ter)
c.4012C>T (p.Gln1338Ter)
c.2191C>T (p.Gln731Ter)
c.2791C>T (p.Gln931Ter)
c.3412C>T (p.Gln1138Ter)
c.1606C>T (p.Gln536Ter)
2g.237372005G>CCA351197430COL6A3c.3394C>G (p.Gln1132Glu)
c.4012C>G (p.Gln1338Glu)
c.2191C>G (p.Gln731Glu)
c.2791C>G (p.Gln931Glu)
c.3412C>G (p.Gln1138Glu)
c.1606C>G (p.Gln536Glu)
2g.237372005G>TCA351197431COL6A3c.3394C>A (p.Gln1132Lys)
c.4012C>A (p.Gln1338Lys)
c.2191C>A (p.Gln731Lys)
c.2791C>A (p.Gln931Lys)
c.3412C>A (p.Gln1138Lys)
c.1606C>A (p.Gln536Lys)
2g.237372006C>ACA2189019COL6A3c.3393G>T (p.Pro1131=)
c.4011G>T (p.Pro1337=)
c.2190G>T (p.Pro730=)
c.2790G>T (p.Pro930=)
c.3411G>T (p.Pro1137=)
c.1605G>T (p.Pro535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237372006C=CA1337623265COL6A3c.3393G= (p.Pro1131=)
c.4011G= (p.Pro1337=)
c.2190G= (p.Pro730=)
c.2790G= (p.Pro930=)
c.3411G= (p.Pro1137=)
c.1605G= (p.Pro535=)
2g.237372006C>GCA431711376COL6A3c.3393G>C (p.Pro1131=)
c.4011G>C (p.Pro1337=)
c.2190G>C (p.Pro730=)
c.2790G>C (p.Pro930=)
c.3411G>C (p.Pro1137=)
c.1605G>C (p.Pro535=)
2g.237372006C>TCA2189018COL6A3c.3393G>A (p.Pro1131=)
c.4011G>A (p.Pro1337=)
c.2190G>A (p.Pro730=)
c.2790G>A (p.Pro930=)
c.3411G>A (p.Pro1137=)
c.1605G>A (p.Pro535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237372007G>ACA2189020COL6A3c.3392C>T (p.Pro1131Leu)
c.4010C>T (p.Pro1337Leu)
c.2189C>T (p.Pro730Leu)
c.2789C>T (p.Pro930Leu)
c.3410C>T (p.Pro1137Leu)
c.1604C>T (p.Pro535Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237372007G>CCA351197456COL6A3c.3392C>G (p.Pro1131Arg)
c.4010C>G (p.Pro1337Arg)
c.2189C>G (p.Pro730Arg)
c.2789C>G (p.Pro930Arg)
c.3410C>G (p.Pro1137Arg)
c.1604C>G (p.Pro535Arg)
 ClinVar gnomAD v4
2g.237372007G=CA1337623266COL6A3c.3392C= (p.Pro1131=)
c.4010C= (p.Pro1337=)
c.2189C= (p.Pro730=)
c.2789C= (p.Pro930=)
c.3410C= (p.Pro1137=)
c.1604C= (p.Pro535=)
2g.237372007G>TCA351197458COL6A3c.3392C>A (p.Pro1131Gln)
c.4010C>A (p.Pro1337Gln)
c.2189C>A (p.Pro730Gln)
c.2789C>A (p.Pro930Gln)
c.3410C>A (p.Pro1137Gln)
c.1604C>A (p.Pro535Gln)
2g.237372008G>ACA351197467COL6A3c.3391C>T (p.Pro1131Ser)
c.4009C>T (p.Pro1337Ser)
c.2188C>T (p.Pro730Ser)
c.2788C>T (p.Pro930Ser)
c.3409C>T (p.Pro1137Ser)
c.1603C>T (p.Pro535Ser)
2g.237372008G>CCA351197468COL6A3c.3391C>G (p.Pro1131Ala)
c.4009C>G (p.Pro1337Ala)
c.2188C>G (p.Pro730Ala)
c.2788C>G (p.Pro930Ala)
c.3409C>G (p.Pro1137Ala)
c.1603C>G (p.Pro535Ala)
2g.237372008G>TCA351197469COL6A3c.3391C>A (p.Pro1131Thr)
c.4009C>A (p.Pro1337Thr)
c.2188C>A (p.Pro730Thr)
c.2788C>A (p.Pro930Thr)
c.3409C>A (p.Pro1137Thr)
c.1603C>A (p.Pro535Thr)
2g.237372009G>ACA431711377COL6A3c.3390C>T (p.Val1130=)
c.4008C>T (p.Val1336=)
c.2187C>T (p.Val729=)
c.2787C>T (p.Val929=)
c.3408C>T (p.Val1136=)
c.1602C>T (p.Val534=)
 dbSNP gnomAD v3 gnomAD v4
2g.237372009G>CCA431711378COL6A3c.3390C>G (p.Val1130=)
c.4008C>G (p.Val1336=)
c.2187C>G (p.Val729=)
c.2787C>G (p.Val929=)
c.3408C>G (p.Val1136=)
c.1602C>G (p.Val534=)
2g.237372009G=CA1337623267COL6A3c.3390C= (p.Val1130=)
c.4008C= (p.Val1336=)
c.2187C= (p.Val729=)
c.2787C= (p.Val929=)
c.3408C= (p.Val1136=)
c.1602C= (p.Val534=)
2g.237372009G>TCA431711379COL6A3c.3390C>A (p.Val1130=)
c.4008C>A (p.Val1336=)
c.2187C>A (p.Val729=)
c.2787C>A (p.Val929=)
c.3408C>A (p.Val1136=)
c.1602C>A (p.Val534=)
2g.237372010A=CA1337623268COL6A3c.3389T= (p.Val1130=)
c.4007T= (p.Val1336=)
c.2186T= (p.Val729=)
c.2786T= (p.Val929=)
c.3407T= (p.Val1136=)
c.1601T= (p.Val534=)
2g.237372010A>CCA351197470COL6A3c.3389T>G (p.Val1130Gly)
c.4007T>G (p.Val1336Gly)
c.2186T>G (p.Val729Gly)
c.2786T>G (p.Val929Gly)
c.3407T>G (p.Val1136Gly)
c.1601T>G (p.Val534Gly)
2g.237372010A>GCA2189021COL6A3c.3389T>C (p.Val1130Ala)
c.4007T>C (p.Val1336Ala)
c.2186T>C (p.Val729Ala)
c.2786T>C (p.Val929Ala)
c.3407T>C (p.Val1136Ala)
c.1601T>C (p.Val534Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237372010A>TCA351197480COL6A3c.3389T>A (p.Val1130Asp)
c.4007T>A (p.Val1336Asp)
c.2186T>A (p.Val729Asp)
c.2786T>A (p.Val929Asp)
c.3407T>A (p.Val1136Asp)
c.1601T>A (p.Val534Asp)
2g.237372011C>ACA351197483COL6A3c.3388G>T (p.Val1130Phe)
c.4006G>T (p.Val1336Phe)
c.2185G>T (p.Val729Phe)
c.2785G>T (p.Val929Phe)
c.3406G>T (p.Val1136Phe)
c.1600G>T (p.Val534Phe)
2g.237372011C=CA1337623269COL6A3c.3388G= (p.Val1130=)
c.4006G= (p.Val1336=)
c.2185G= (p.Val729=)
c.2785G= (p.Val929=)
c.3406G= (p.Val1136=)
c.1600G= (p.Val534=)
2g.237372011C>GCA351197485COL6A3c.3388G>C (p.Val1130Leu)
c.4006G>C (p.Val1336Leu)
c.2185G>C (p.Val729Leu)
c.2785G>C (p.Val929Leu)
c.3406G>C (p.Val1136Leu)
c.1600G>C (p.Val534Leu)
2g.237372011C>TCA248984COL6A3c.3388G>A (p.Val1130Ile)
c.4006G>A (p.Val1336Ile)
c.2185G>A (p.Val729Ile)
c.2785G>A (p.Val929Ile)
c.3406G>A (p.Val1136Ile)
c.1600G>A (p.Val534Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched