Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237371915T>A | CA351197000 | COL6A3 | c.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) | |
2 | g.237371915T>C | CA351197002 | COL6A3 | c.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) | |
2 | g.237371915T>G | CA351197003 | COL6A3 | c.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) | |
2 | g.237371916G>A | CA431711282 | COL6A3 | c.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 |
2 | g.237371916G>C | CA351197011 | COL6A3 | c.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) | |
2 | g.237371916G= | CA1337623224 | COL6A3 | c.3483C= (p.Phe1161=) c.4101C= (p.Phe1367=) c.2280C= (p.Phe760=) c.2880C= (p.Phe960=) c.3501C= (p.Phe1167=) c.1695C= (p.Phe565=) | |
2 | g.237371916G>T | CA351197016 | COL6A3 | c.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 |
2 | g.237371917A>C | CA351197021 | COL6A3 | c.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) | |
2 | g.237371917A>G | CA351197020 | COL6A3 | c.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) | |
2 | g.237371917A>T | CA351197018 | COL6A3 | c.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) | |
2 | g.237371918A>C | CA351197023 | COL6A3 | c.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) | |
2 | g.237371918A>G | CA351197025 | COL6A3 | c.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) | |
2 | g.237371918A>T | CA351197024 | COL6A3 | c.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) | |
2 | g.237371919A>C | CA431711286 | COL6A3 | c.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=) | |
2 | g.237371919A>G | CA431711287 | COL6A3 | c.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=) | |
2 | g.237371919A>T | CA431711288 | COL6A3 | c.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=) | |
2 | g.237371920G>A | CA351197027 | COL6A3 | c.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) | |
2 | g.237371920G>C | CA2188994 | COL6A3 | c.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 |
2 | g.237371920G= | CA1337623225 | COL6A3 | c.3479C= (p.Pro1160=) c.4097C= (p.Pro1366=) c.2276C= (p.Pro759=) c.2876C= (p.Pro959=) c.3497C= (p.Pro1166=) c.1691C= (p.Pro564=) | |
2 | g.237371920G>T | CA351197028 | COL6A3 | c.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) | |
2 | g.237371921G>A | CA351197032 | COL6A3 | c.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) | |
2 | g.237371921G>C | CA351197034 | COL6A3 | c.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) | |
2 | g.237371921G>T | CA351197035 | COL6A3 | c.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) | |
2 | g.237371922G>A | CA431711292 | COL6A3 | c.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 |
2 | g.237371922G>C | CA431711290 | COL6A3 | c.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 |
2 | g.237371922G>T | CA431711291 | COL6A3 | c.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=) | |
2 | g.237371923G>A | CA351197039 | COL6A3 | c.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 |
2 | g.237371923G>C | CA351197040 | COL6A3 | c.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) | |
2 | g.237371923G>T | CA351197042 | COL6A3 | c.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) | |
2 | g.237371924C>A | CA351197049 | COL6A3 | c.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 |
2 | g.237371924C= | CA1337623226 | COL6A3 | c.3475G= (p.Ala1159=) c.4093G= (p.Ala1365=) c.2272G= (p.Ala758=) c.2872G= (p.Ala958=) c.3493G= (p.Ala1165=) c.1687G= (p.Ala563=) | |
2 | g.237371924C>G | CA351197047 | COL6A3 | c.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) | |
2 | g.237371924C>T | CA351197045 | COL6A3 | c.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 |
2 | g.237371925C>A | CA431711294 | COL6A3 | c.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=) | |
2 | g.237371925C= | CA1337623227 | COL6A3 | c.3474G= (p.Val1158=) c.4092G= (p.Val1364=) c.2271G= (p.Val757=) c.2871G= (p.Val957=) c.3492G= (p.Val1164=) c.1686G= (p.Val562=) | |
2 | g.237371925C>G | CA431711295 | COL6A3 | c.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=) | |
2 | g.237371925C>T | CA431711297 | COL6A3 | c.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 |
2 | g.237371926A>C | CA351197051 | COL6A3 | c.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) | |
2 | g.237371926A>G | CA351197053 | COL6A3 | c.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 |
2 | g.237371926A>T | CA351197055 | COL6A3 | c.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) | |
2 | g.237371927C>A | CA351197057 | COL6A3 | c.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) | |
2 | g.237371927C= | CA1337623228 | COL6A3 | c.3472G= (p.Val1158=) c.4090G= (p.Val1364=) c.2269G= (p.Val757=) c.2869G= (p.Val957=) c.3490G= (p.Val1164=) c.1684G= (p.Val562=) | |
2 | g.237371927C>G | CA351197059 | COL6A3 | c.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 |
2 | g.237371927C>T | CA147953 | COL6A3 | c.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 |
2 | g.237371928G>A | CA67818861 | COL6A3 | c.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 |
2 | g.237371928G>C | CA431711300 | COL6A3 | c.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=) | |
2 | g.237371928G= | CA1337623229 | COL6A3 | c.3471C= (p.Gly1157=) c.4089C= (p.Gly1363=) c.2268C= (p.Gly756=) c.2868C= (p.Gly956=) c.3489C= (p.Gly1163=) c.1683C= (p.Gly561=) | |
2 | g.237371928G>T | CA431711301 | COL6A3 | c.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 |
2 | g.237371929C>A | CA351197066 | COL6A3 | c.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) | |
2 | g.237371929C>G | CA351197062 | COL6A3 | c.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 |
2 | g.237371929C>T | CA351197064 | COL6A3 | c.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) | |
2 | g.237371930C>A | CA351197068 | COL6A3 | c.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 |
2 | g.237371930C= | CA1337623230 | COL6A3 | c.3469G= (p.Gly1157=) c.4087G= (p.Gly1363=) c.2266G= (p.Gly756=) c.2866G= (p.Gly956=) c.3487G= (p.Gly1163=) c.1681G= (p.Gly561=) | |
2 | g.237371930C>G | CA351197070 | COL6A3 | c.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 |
2 | g.237371930C>T | CA351197072 | COL6A3 | c.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 |
2 | g.237371931A>C | CA351197073 | COL6A3 | c.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) | |
2 | g.237371931A>G | CA431711305 | COL6A3 | c.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=) | |
2 | g.237371931A>T | CA351197074 | COL6A3 | c.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) | |
2 | g.237371932A= | CA1337623231 | COL6A3 | c.3467T= (p.Phe1156=) c.4085T= (p.Phe1362=) c.2264T= (p.Phe755=) c.2864T= (p.Phe955=) c.3485T= (p.Phe1162=) c.1679T= (p.Phe560=) | |
2 | g.237371932A>C | CA351197076 | COL6A3 | c.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) | |
2 | g.237371932A>G | CA351197078 | COL6A3 | c.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 |
2 | g.237371932A>T | CA2188995 | COL6A3 | c.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 |
2 | g.237371933A>C | CA351197081 | COL6A3 | c.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) | |
2 | g.237371933A>G | CA351197082 | COL6A3 | c.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) | |
2 | g.237371933A>T | CA351197084 | COL6A3 | c.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) | |
2 | g.237371934C>A | CA351197086 | COL6A3 | c.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 |
2 | g.237371934C>G | CA351197088 | COL6A3 | c.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) | |
2 | g.237371934C>T | CA431711306 | COL6A3 | c.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=) | |
2 | g.237371935T>A | CA351197090 | COL6A3 | c.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) | |
2 | g.237371935T>C | CA351197093 | COL6A3 | c.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 |
2 | g.237371935T>G | CA2188996 | COL6A3 | c.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 |
2 | g.237371935T= | CA1337623232 | COL6A3 | c.3464A= (p.Gln1155=) c.4082A= (p.Gln1361=) c.2261A= (p.Gln754=) c.2861A= (p.Gln954=) c.3482A= (p.Gln1161=) c.1676A= (p.Gln559=) | |
2 | g.237371936G>A | CA351197094 | COL6A3 | c.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 |
2 | g.237371936G>C | CA351197096 | COL6A3 | c.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) | |
2 | g.237371936G>T | CA351197098 | COL6A3 | c.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 |
2 | g.237371937C>A | CA2188997 | COL6A3 | c.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 |
2 | g.237371937C= | CA1337623233 | COL6A3 | c.3462G= (p.Lys1154=) c.4080G= (p.Lys1360=) c.2259G= (p.Lys753=) c.2859G= (p.Lys953=) c.3480G= (p.Lys1160=) c.1674G= (p.Lys558=) | |
2 | g.237371937C>G | CA351197101 | COL6A3 | c.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) | |
2 | g.237371937C>T | CA431711308 | COL6A3 | c.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 |
2 | g.237371937_237371938delinsCT | CA1337623234 | COL6A3 | c.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=) | |
2 | g.237371938T>A | CA351197108 | COL6A3 | c.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) | |
2 | g.237371938T>C | CA351197105 | COL6A3 | c.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 |
2 | g.237371938T>G | CA351197104 | COL6A3 | c.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) | |
2 | g.237371939del | CA1337623235 | COL6A3 | c.3461del (p.Lys1154SerfsTer20) c.4079del (p.Lys1360SerfsTer20) c.2258del (p.Lys753SerfsTer20) c.2858del (p.Lys953SerfsTer20) c.3479del (p.Lys1160SerfsTer20) c.1673del (p.Lys558SerfsTer20) | dbSNP |
2 | g.237371939T>A | CA351197110 | COL6A3 | c.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) | |
2 | g.237371939T>C | CA351197112 | COL6A3 | c.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 |
2 | g.237371939T>G | CA351197114 | COL6A3 | c.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) | |
2 | g.237371939T= | CA1337623236 | COL6A3 | c.3460A= (p.Lys1154=) c.4078A= (p.Lys1360=) c.2257A= (p.Lys753=) c.2857A= (p.Lys953=) c.3478A= (p.Lys1160=) c.1672A= (p.Lys558=) | |
2 | g.237371940G>A | CA431711311 | COL6A3 | c.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 |
2 | g.237371940G>C | CA431711313 | COL6A3 | c.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 |
2 | g.237371940G>T | CA431711314 | COL6A3 | c.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=) | |
2 | g.237371941A>C | CA351197118 | COL6A3 | c.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) | |
2 | g.237371941A>G | CA351197119 | COL6A3 | c.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) | |
2 | g.237371941A>T | CA351197122 | COL6A3 | c.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) | |
2 | g.237371942G>A | CA351197123 | COL6A3 | c.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 |
2 | g.237371942G>C | CA351197127 | COL6A3 | c.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) | |
2 | g.237371942G= | CA1337623237 | COL6A3 | c.3457C= (p.Leu1153=) c.4075C= (p.Leu1359=) c.2254C= (p.Leu752=) c.2854C= (p.Leu952=) c.3475C= (p.Leu1159=) c.1669C= (p.Leu557=) | |
2 | g.237371942G>T | CA351197125 | COL6A3 | c.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 |
2 | g.237371943C>A | CA351197128 | COL6A3 | c.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) | |
2 | g.237371943C>G | CA351197130 | COL6A3 | c.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) | |
2 | g.237371943C>T | CA431711315 | COL6A3 | c.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=) | |
2 | g.237371944T>A | CA351197132 | COL6A3 | c.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) | |
2 | g.237371944T>C | CA351197135 | COL6A3 | c.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) | |
2 | g.237371944T>G | CA351197136 | COL6A3 | c.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) | |
2 | g.237371945C>A | CA351197140 | COL6A3 | c.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) | |
2 | g.237371945C= | CA1337623238 | COL6A3 | c.3454G= (p.Glu1152=) c.4072G= (p.Glu1358=) c.2251G= (p.Glu751=) c.2851G= (p.Glu951=) c.3472G= (p.Glu1158=) c.1666G= (p.Glu556=) | |
2 | g.237371945C>G | CA351197141 | COL6A3 | c.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) | |
2 | g.237371945C>T | CA2188998 | COL6A3 | c.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 |
2 | g.237371946C>A | CA431711317 | COL6A3 | c.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=) | |
2 | g.237371946C>G | CA431711318 | COL6A3 | c.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=) | |
2 | g.237371946C>T | CA431711319 | COL6A3 | c.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 |
2 | g.237371947A= | CA1337623239 | COL6A3 | c.3452T= (p.Val1151=) c.4070T= (p.Val1357=) c.2249T= (p.Val750=) c.2849T= (p.Val950=) c.3470T= (p.Val1157=) c.1664T= (p.Val555=) | |
2 | g.237371947A>C | CA351197144 | COL6A3 | c.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 |
2 | g.237371947A>G | CA351197146 | COL6A3 | c.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 |
2 | g.237371947A>T | CA351197148 | COL6A3 | c.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) | |
2 | g.237371948C>A | CA351197150 | COL6A3 | c.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 |
2 | g.237371948C>G | CA351197155 | COL6A3 | c.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) | |
2 | g.237371948C>T | CA351197153 | COL6A3 | c.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) | |
2 | g.237371949C>A | CA431711321 | COL6A3 | c.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=) | |
2 | g.237371949C= | CA1337623240 | COL6A3 | c.3450G= (p.Ala1150=) c.4068G= (p.Ala1356=) c.2247G= (p.Ala749=) c.2847G= (p.Ala949=) c.3468G= (p.Ala1156=) c.1662G= (p.Ala554=) | |
2 | g.237371949C>G | CA431711322 | COL6A3 | c.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=) | |
2 | g.237371949C>T | CA2188999 | COL6A3 | c.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 |
2 | g.237371950G>A | CA2189000 | COL6A3 | c.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 |
2 | g.237371950G>C | CA351197159 | COL6A3 | c.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) | |
2 | g.237371950G= | CA1337623241 | COL6A3 | c.3449C= (p.Ala1150=) c.4067C= (p.Ala1356=) c.2246C= (p.Ala749=) c.2846C= (p.Ala949=) c.3467C= (p.Ala1156=) c.1661C= (p.Ala554=) | |
2 | g.237371950G>T | CA351197161 | COL6A3 | c.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 |
2 | g.237371951C>A | CA351197164 | COL6A3 | c.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) | |
2 | g.237371951C= | CA1337623242 | COL6A3 | c.3448G= (p.Ala1150=) c.4066G= (p.Ala1356=) c.2245G= (p.Ala749=) c.2845G= (p.Ala949=) c.3466G= (p.Ala1156=) c.1660G= (p.Ala554=) | |
2 | g.237371951C>G | CA351197166 | COL6A3 | c.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 |
2 | g.237371951C>T | CA2189001 | COL6A3 | c.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 |
2 | g.237371952C>A | CA431711323 | COL6A3 | c.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 |
2 | g.237371952C= | CA1337623243 | COL6A3 | c.3447G= (p.Pro1149=) c.4065G= (p.Pro1355=) c.2244G= (p.Pro748=) c.2844G= (p.Pro948=) c.3465G= (p.Pro1155=) c.1659G= (p.Pro553=) | |
2 | g.237371952C>G | CA431711324 | COL6A3 | c.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 |
2 | g.237371952C>T | CA2189002 | COL6A3 | c.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 |
2 | g.237371953G>A | CA2189003 | COL6A3 | c.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 |
2 | g.237371953G>C | CA351197172 | COL6A3 | c.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) | |
2 | g.237371953G= | CA1337623244 | COL6A3 | c.3446C= (p.Pro1149=) c.4064C= (p.Pro1355=) c.2243C= (p.Pro748=) c.2843C= (p.Pro948=) c.3464C= (p.Pro1155=) c.1658C= (p.Pro553=) | |
2 | g.237371953G>T | CA351197174 | COL6A3 | c.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) | |
2 | g.237371954G>A | CA351197179 | COL6A3 | c.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 |
2 | g.237371954G>C | CA351197181 | COL6A3 | c.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) | |
2 | g.237371954G= | CA1337623245 | COL6A3 | c.3445C= (p.Pro1149=) c.4063C= (p.Pro1355=) c.2242C= (p.Pro748=) c.2842C= (p.Pro948=) c.3463C= (p.Pro1155=) c.1657C= (p.Pro553=) | |
2 | g.237371954G>T | CA351197183 | COL6A3 | c.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 |
2 | g.237371955G>A | CA431711326 | COL6A3 | c.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=) | |
2 | g.237371955G>C | CA351197187 | COL6A3 | c.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) | |
2 | g.237371955G>T | CA351197185 | COL6A3 | c.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 |
2 | g.237371956T>A | CA351197190 | COL6A3 | c.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) | |
2 | g.237371956T>C | CA351197192 | COL6A3 | c.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 |
2 | g.237371956T>G | CA351197194 | COL6A3 | c.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) | |
2 | g.237371956T= | CA1337623246 | COL6A3 | c.3443A= (p.Asp1148=) c.4061A= (p.Asp1354=) c.2240A= (p.Asp747=) c.2840A= (p.Asp947=) c.3461A= (p.Asp1154=) c.1655A= (p.Asp552=) | |
2 | g.237371957C>A | CA351197196 | COL6A3 | c.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) | |
2 | g.237371957C= | CA1337623247 | COL6A3 | c.3442G= (p.Asp1148=) c.4060G= (p.Asp1354=) c.2239G= (p.Asp747=) c.2839G= (p.Asp947=) c.3460G= (p.Asp1154=) c.1654G= (p.Asp552=) | |
2 | g.237371957C>G | CA2189004 | COL6A3 | c.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 |
2 | g.237371957C>T | CA67818905 | COL6A3 | c.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 |
2 | g.237371958G>A | CA2189005 | COL6A3 | c.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 |
2 | g.237371958G>C | CA351197201 | COL6A3 | c.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) | |
2 | g.237371958G= | CA1337623248 | COL6A3 | c.3441C= (p.Asp1147=) c.4059C= (p.Asp1353=) c.2238C= (p.Asp746=) c.2838C= (p.Asp946=) c.3459C= (p.Asp1153=) c.1653C= (p.Asp551=) | |
2 | g.237371958G>T | CA351197203 | COL6A3 | c.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 |
2 | g.237371959T>A | CA351197204 | COL6A3 | c.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) | |
2 | g.237371959T>C | CA351197206 | COL6A3 | c.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) | |
2 | g.237371959T>G | CA351197207 | COL6A3 | c.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 |
2 | g.237371960C>A | CA351197210 | COL6A3 | c.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) | |
2 | g.237371960C>G | CA351197211 | COL6A3 | c.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) | |
2 | g.237371960C>T | CA351197208 | COL6A3 | c.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) | |
2 | g.237371961C>A | CA431711330 | COL6A3 | c.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=) | |
2 | g.237371961C>G | CA431711331 | COL6A3 | c.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=) | |
2 | g.237371961C>T | CA431711333 | COL6A3 | c.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 |
2 | g.237371962A>C | CA351197212 | COL6A3 | c.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 |
2 | g.237371962A>G | CA351197213 | COL6A3 | c.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) | |
2 | g.237371962A>T | CA351197215 | COL6A3 | c.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) | |
2 | g.237371963C>A | CA351197217 | COL6A3 | c.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 |
2 | g.237371963C>G | CA351197219 | COL6A3 | c.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) | |
2 | g.237371963C>T | CA351197221 | COL6A3 | c.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) | |
2 | g.237371964C>A | CA351197223 | COL6A3 | c.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) | |
2 | g.237371964C>G | CA351197225 | COL6A3 | c.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) | |
2 | g.237371964C>T | CA431711335 | COL6A3 | c.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 |
2 | g.237371965T>A | CA351197227 | COL6A3 | c.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) | |
2 | g.237371965T>C | CA351197228 | COL6A3 | c.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) | |
2 | g.237371965T>G | CA351197229 | COL6A3 | c.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) | |
2 | g.237371967_237371969del | CA2663799097 | COL6A3 | c.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 |
2 | g.237371966C>A | CA351197230 | COL6A3 | c.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) | |
2 | g.237371966C>G | CA351197232 | COL6A3 | c.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) | |
2 | g.237371966C>T | CA351197234 | COL6A3 | c.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) | |
2 | g.237371967A>C | CA351197236 | COL6A3 | c.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 |
2 | g.237371967A>G | CA431711336 | COL6A3 | c.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=) | |
2 | g.237371967A>T | CA351197238 | COL6A3 | c.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) | |
2 | g.237371968T>A | CA351197240 | COL6A3 | c.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) | |
2 | g.237371968T>C | CA351197242 | COL6A3 | c.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 |
2 | g.237371968T>G | CA351197244 | COL6A3 | c.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) | |
2 | g.237371969C>A | CA351197246 | COL6A3 | c.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) | |
2 | g.237371969C= | CA1337623249 | COL6A3 | c.3430G= (p.Asp1144=) c.4048G= (p.Asp1350=) c.2227G= (p.Asp743=) c.2827G= (p.Asp943=) c.3448G= (p.Asp1150=) c.1642G= (p.Asp548=) | |
2 | g.237371969C>G | CA2189006 | COL6A3 | c.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 |
2 | g.237371969C>T | CA2189007 | COL6A3 | c.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 |
2 | g.237371970G>A | CA2189008 | COL6A3 | c.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 |
2 | g.237371970G>C | CA351197251 | COL6A3 | c.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) | |
2 | g.237371970G= | CA1337623250 | COL6A3 | c.3429C= (p.Asp1143=) c.4047C= (p.Asp1349=) c.2226C= (p.Asp742=) c.2826C= (p.Asp942=) c.3447C= (p.Asp1149=) c.1641C= (p.Asp547=) | |
2 | g.237371970G>T | CA2189009 | COL6A3 | c.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 |
2 | g.237371971T>A | CA351197254 | COL6A3 | c.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) | |
2 | g.237371971T>C | CA351197256 | COL6A3 | c.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 |
2 | g.237371971T>G | CA351197258 | COL6A3 | c.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) | |
2 | g.237371972C>A | CA2189010 | COL6A3 | c.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 |
2 | g.237371972C= | CA1337623251 | COL6A3 | c.3427G= (p.Asp1143=) c.4045G= (p.Asp1349=) c.2224G= (p.Asp742=) c.2824G= (p.Asp942=) c.3445G= (p.Asp1149=) c.1639G= (p.Asp547=) | |
2 | g.237371972C>G | CA351197262 | COL6A3 | c.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) | |
2 | g.237371972C>T | CA351197260 | COL6A3 | c.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) | |
2 | g.237371973del | CA2663799107 | COL6A3 | c.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 |
2 | g.237371973A>C | CA431711341 | COL6A3 | c.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=) | |
2 | g.237371973A>G | CA431711342 | COL6A3 | c.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=) | |
2 | g.237371973A>T | CA431711343 | COL6A3 | c.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=) | |
2 | g.237371974G>A | CA351197265 | COL6A3 | c.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) | |
2 | g.237371974G>C | CA351197269 | COL6A3 | c.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 |
2 | g.237371974G>T | CA351197267 | COL6A3 | c.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) | |
2 | g.237371975A= | CA1337623252 | COL6A3 | c.3424T= (p.Ser1142=) c.4042T= (p.Ser1348=) c.2221T= (p.Ser741=) c.2821T= (p.Ser941=) c.3442T= (p.Ser1148=) c.1636T= (p.Ser546=) | |
2 | g.237371975A>C | CA351197271 | COL6A3 | c.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) | |
2 | g.237371975A>G | CA351197272 | COL6A3 | c.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 |
2 | g.237371975A>T | CA351197274 | COL6A3 | c.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 |
2 | g.237371976C>A | CA2189012 | COL6A3 | c.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 |
2 | g.237371976C= | CA1337623253 | COL6A3 | c.3423G= (p.Lys1141=) c.4041G= (p.Lys1347=) c.2220G= (p.Lys740=) c.2820G= (p.Lys940=) c.3441G= (p.Lys1147=) c.1635G= (p.Lys545=) | |
2 | g.237371976C>G | CA351197277 | COL6A3 | c.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) | |
2 | g.237371976C>T | CA2189011 | COL6A3 | c.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 |
2 | g.237371977T>A | CA351197280 | COL6A3 | c.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) | |
2 | g.237371977T>C | CA351197282 | COL6A3 | c.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) | |
2 | g.237371977T>G | CA351197285 | COL6A3 | c.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) | |
2 | g.237371978T>A | CA351197286 | COL6A3 | c.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) | |
2 | g.237371978T>C | CA351197288 | COL6A3 | c.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) | |
2 | g.237371978T>G | CA351197289 | COL6A3 | c.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) | |
2 | g.237371979T>A | CA431711345 | COL6A3 | c.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 |
2 | g.237371979T>C | CA431711348 | COL6A3 | c.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 |
2 | g.237371979T>G | CA2189013 | COL6A3 | c.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 |
2 | g.237371979T= | CA1337623254 | COL6A3 | c.3420A= (p.Gly1140=) c.4038A= (p.Gly1346=) c.2217A= (p.Gly739=) c.2817A= (p.Gly939=) c.3438A= (p.Gly1146=) c.1632A= (p.Gly544=) | |
2 | g.237371980C>A | CA351197296 | COL6A3 | c.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) | |
2 | g.237371980C>G | CA351197293 | COL6A3 | c.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) | |
2 | g.237371980C>T | CA351197292 | COL6A3 | c.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) | |
2 | g.237371981C>A | CA351197298 | COL6A3 | c.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) | |
2 | g.237371981C>G | CA351197300 | COL6A3 | c.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) | |
2 | g.237371981C>T | CA351197301 | COL6A3 | c.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 |
2 | g.237371982A>C | CA431711354 | COL6A3 | c.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=) | |
2 | g.237371982A>G | CA431711350 | COL6A3 | c.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 |
2 | g.237371982A>T | CA431711352 | COL6A3 | c.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=) | |
2 | g.237371983G>A | CA351197303 | COL6A3 | c.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) | |
2 | g.237371983G>C | CA351197305 | COL6A3 | c.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) | |
2 | g.237371983G>T | CA351197306 | COL6A3 | c.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) | |
2 | g.237371984A>C | CA351197308 | COL6A3 | c.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) | |
2 | g.237371984A>G | CA351197310 | COL6A3 | c.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) | |
2 | g.237371984A>T | CA351197312 | COL6A3 | c.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) | |
2 | g.237371985C>A | CA431711355 | COL6A3 | c.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=) | |
2 | g.237371985C= | CA1337623255 | COL6A3 | c.3414G= (p.Ser1138=) c.4032G= (p.Ser1344=) c.2211G= (p.Ser737=) c.2811G= (p.Ser937=) c.3432G= (p.Ser1144=) c.1626G= (p.Ser542=) | |
2 | g.237371985C>G | CA431711356 | COL6A3 | c.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=) | |
2 | g.237371985C>T | CA2189014 | COL6A3 | c.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 |
2 | g.237371986G>A | CA67818973 | COL6A3 | c.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 |
2 | g.237371986G>C | CA351197315 | COL6A3 | c.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 |
2 | g.237371986G= | CA1337623256 | COL6A3 | c.3413C= (p.Ser1138=) c.4031C= (p.Ser1344=) c.2210C= (p.Ser737=) c.2810C= (p.Ser937=) c.3431C= (p.Ser1144=) c.1625C= (p.Ser542=) | |
2 | g.237371986G>T | CA351197317 | COL6A3 | c.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) | |
2 | g.237371987A>C | CA351197320 | COL6A3 | c.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) | |
2 | g.237371987A>G | CA351197321 | COL6A3 | c.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 |
2 | g.237371987A>T | CA351197319 | COL6A3 | c.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) | |
2 | g.237371988G>A | CA431711357 | COL6A3 | c.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=) | |
2 | g.237371988G>C | CA351197322 | COL6A3 | c.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) | |
2 | g.237371988G>T | CA431711358 | COL6A3 | c.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=) | |
2 | g.237371989A>C | CA351197325 | COL6A3 | c.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) | |
2 | g.237371989A>G | CA351197330 | COL6A3 | c.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) | |
2 | g.237371989A>T | CA351197332 | COL6A3 | c.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) | |
2 | g.237371990T>A | CA351197333 | COL6A3 | c.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) | |
2 | g.237371990T>C | CA351197334 | COL6A3 | c.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) | |
2 | g.237371990T>G | CA351197341 | COL6A3 | c.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 |
2 | g.237371990T= | CA1337623257 | COL6A3 | c.3409A= (p.Ile1137=) c.4027A= (p.Ile1343=) c.2206A= (p.Ile736=) c.2806A= (p.Ile936=) c.3427A= (p.Ile1143=) c.1621A= (p.Ile541=) | |
2 | g.237371991G>A | CA431711360 | COL6A3 | c.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 |
2 | g.237371991G>C | CA431711362 | COL6A3 | c.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=) | |
2 | g.237371991G= | CA1337623258 | COL6A3 | c.3408C= (p.Leu1136=) c.4026C= (p.Leu1342=) c.2205C= (p.Leu735=) c.2805C= (p.Leu935=) c.3426C= (p.Leu1142=) c.1620C= (p.Leu540=) | |
2 | g.237371991G>T | CA431711361 | COL6A3 | c.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=) | |
2 | g.237371992A>C | CA351197342 | COL6A3 | c.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 |
2 | g.237371992A>G | CA351197343 | COL6A3 | c.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) | |
2 | g.237371992A>T | CA351197344 | COL6A3 | c.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) | |
2 | g.237371993G>A | CA2189015 | COL6A3 | c.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 |
2 | g.237371993G>C | CA351197345 | COL6A3 | c.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) | |
2 | g.237371993G= | CA1337623259 | COL6A3 | c.3406C= (p.Leu1136=) c.4024C= (p.Leu1342=) c.2203C= (p.Leu735=) c.2803C= (p.Leu935=) c.3424C= (p.Leu1142=) c.1618C= (p.Leu540=) | |
2 | g.237371993G>T | CA351197346 | COL6A3 | c.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) | |
2 | g.237371994G>A | CA431711363 | COL6A3 | c.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 |
2 | g.237371994G>C | CA431711364 | COL6A3 | c.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=) | |
2 | g.237371994G= | CA1337623260 | COL6A3 | c.3405C= (p.Val1135=) c.4023C= (p.Val1341=) c.2202C= (p.Val734=) c.2802C= (p.Val934=) c.3423C= (p.Val1141=) c.1617C= (p.Val539=) | |
2 | g.237371994G>T | CA431711365 | COL6A3 | c.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=) | |
2 | g.237371995A>C | CA351197347 | COL6A3 | c.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) | |
2 | g.237371995A>G | CA351197354 | COL6A3 | c.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) | |
2 | g.237371995A>T | CA351197350 | COL6A3 | c.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 |
2 | g.237371996C>A | CA351197358 | COL6A3 | c.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) | |
2 | g.237371996C= | CA1337623261 | COL6A3 | c.3403G= (p.Val1135=) c.4021G= (p.Val1341=) c.2200G= (p.Val734=) c.2800G= (p.Val934=) c.3421G= (p.Val1141=) c.1615G= (p.Val539=) | |
2 | g.237371996C>G | CA351197362 | COL6A3 | c.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) | |
2 | g.237371996C>T | CA351197366 | COL6A3 | c.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 |
2 | g.237371997C>A | CA431711369 | COL6A3 | c.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 |
2 | g.237371997C>G | CA431711370 | COL6A3 | c.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 |
2 | g.237371997C>T | CA431711371 | COL6A3 | c.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=) | |
2 | g.237371998A>C | CA351197368 | COL6A3 | c.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) | |
2 | g.237371998A>G | CA351197369 | COL6A3 | c.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 |
2 | g.237371998A>T | CA351197371 | COL6A3 | c.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) | |
2 | g.237371999G>A | CA2189016 | COL6A3 | c.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 |
2 | g.237371999G>C | CA351197375 | COL6A3 | c.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) | |
2 | g.237371999G= | CA1337623262 | COL6A3 | c.3400C= (p.Leu1134=) c.4018C= (p.Leu1340=) c.2197C= (p.Leu733=) c.2797C= (p.Leu933=) c.3418C= (p.Leu1140=) c.1612C= (p.Leu538=) | |
2 | g.237371999G>T | CA351197378 | COL6A3 | c.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) | |
2 | g.237372000G>A | CA2189017 | COL6A3 | c.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 |
2 | g.237372000G>C | CA351197394 | COL6A3 | c.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) | |
2 | g.237372000G= | CA1337623263 | COL6A3 | c.3399C= (p.Phe1133=) c.4017C= (p.Phe1339=) c.2196C= (p.Phe732=) c.2796C= (p.Phe932=) c.3417C= (p.Phe1139=) c.1611C= (p.Phe537=) | |
2 | g.237372000G>T | CA351197392 | COL6A3 | c.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 |
2 | g.237372001A= | CA1337623264 | COL6A3 | c.3398T= (p.Phe1133=) c.4016T= (p.Phe1339=) c.2195T= (p.Phe732=) c.2795T= (p.Phe932=) c.3416T= (p.Phe1139=) c.1610T= (p.Phe537=) | |
2 | g.237372001A>C | CA351197398 | COL6A3 | c.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) | |
2 | g.237372001A>G | CA351197401 | COL6A3 | c.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) | |
2 | g.237372001A>T | CA351197402 | COL6A3 | c.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 |
2 | g.237372002A>C | CA351197403 | COL6A3 | c.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) | |
2 | g.237372002A>G | CA351197406 | COL6A3 | c.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) | |
2 | g.237372002A>T | CA351197410 | COL6A3 | c.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) | |
2 | g.237372003C>A | CA351197411 | COL6A3 | c.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) | |
2 | g.237372003C>G | CA351197412 | COL6A3 | c.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) | |
2 | g.237372003C>T | CA431711375 | COL6A3 | c.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 |
2 | g.237372004T>A | CA351197418 | COL6A3 | c.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) | |
2 | g.237372004T>C | CA351197421 | COL6A3 | c.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) | |
2 | g.237372004T>G | CA351197423 | COL6A3 | c.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) | |
2 | g.237372009_237372027del | CA2663799118 | COL6A3 | c.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 |
2 | g.237372005G>A | CA351197429 | COL6A3 | c.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) | |
2 | g.237372005G>C | CA351197430 | COL6A3 | c.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) | |
2 | g.237372005G>T | CA351197431 | COL6A3 | c.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) | |
2 | g.237372006C>A | CA2189019 | COL6A3 | c.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 |
2 | g.237372006C= | CA1337623265 | COL6A3 | c.3393G= (p.Pro1131=) c.4011G= (p.Pro1337=) c.2190G= (p.Pro730=) c.2790G= (p.Pro930=) c.3411G= (p.Pro1137=) c.1605G= (p.Pro535=) | |
2 | g.237372006C>G | CA431711376 | COL6A3 | c.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=) | |
2 | g.237372006C>T | CA2189018 | COL6A3 | c.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 |
2 | g.237372007G>A | CA2189020 | COL6A3 | c.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 |
2 | g.237372007G>C | CA351197456 | COL6A3 | c.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 |
2 | g.237372007G= | CA1337623266 | COL6A3 | c.3392C= (p.Pro1131=) c.4010C= (p.Pro1337=) c.2189C= (p.Pro730=) c.2789C= (p.Pro930=) c.3410C= (p.Pro1137=) c.1604C= (p.Pro535=) | |
2 | g.237372007G>T | CA351197458 | COL6A3 | c.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) | |
2 | g.237372008G>A | CA351197467 | COL6A3 | c.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) | |
2 | g.237372008G>C | CA351197468 | COL6A3 | c.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) | |
2 | g.237372008G>T | CA351197469 | COL6A3 | c.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) | |
2 | g.237372009G>A | CA431711377 | COL6A3 | c.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 |
2 | g.237372009G>C | CA431711378 | COL6A3 | c.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=) | |
2 | g.237372009G= | CA1337623267 | COL6A3 | c.3390C= (p.Val1130=) c.4008C= (p.Val1336=) c.2187C= (p.Val729=) c.2787C= (p.Val929=) c.3408C= (p.Val1136=) c.1602C= (p.Val534=) | |
2 | g.237372009G>T | CA431711379 | COL6A3 | c.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=) | |
2 | g.237372010A= | CA1337623268 | COL6A3 | c.3389T= (p.Val1130=) c.4007T= (p.Val1336=) c.2186T= (p.Val729=) c.2786T= (p.Val929=) c.3407T= (p.Val1136=) c.1601T= (p.Val534=) | |
2 | g.237372010A>C | CA351197470 | COL6A3 | c.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) | |
2 | g.237372010A>G | CA2189021 | COL6A3 | c.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 |
2 | g.237372010A>T | CA351197480 | COL6A3 | c.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) | |
2 | g.237372011C>A | CA351197483 | COL6A3 | c.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) | |
2 | g.237372011C= | CA1337623269 | COL6A3 | c.3388G= (p.Val1130=) c.4006G= (p.Val1336=) c.2185G= (p.Val729=) c.2785G= (p.Val929=) c.3406G= (p.Val1136=) c.1600G= (p.Val534=) | |
2 | g.237372011C>G | CA351197485 | COL6A3 | c.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) | |
2 | g.237372011C>T | CA248984 | COL6A3 | c.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 |
2 | g.237372012G>A | CA152466 | COL6A3 | c.3387C>T (p.Gly1129=) c.4005C>T (p.Gly1335=) c.2184C>T (p.Gly728=) c.2784C>T (p.Gly928=) c.3405C>T (p.Gly1135=) c.1599C>T (p.Gly533=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237372012G>C | CA431711380 | COL6A3 | c.3387C>G (p.Gly1129=) c.4005C>G (p.Gly1335=) c.2184C>G (p.Gly728=) c.2784C>G (p.Gly928=) c.3405C>G (p.Gly1135=) c.1599C>G (p.Gly533=) | |
2 | g.237372012G= | CA1337623270 | COL6A3 | c.3387C= (p.Gly1129=) c.4005C= (p.Gly1335=) c.2184C= (p.Gly728=) c.2784C= (p.Gly928=) c.3405C= (p.Gly1135=) c.1599C= (p.Gly533=) | |
2 | g.237372012G>T | CA431711381 | COL6A3 | c.3387C>A (p.Gly1129=) c.4005C>A (p.Gly1335=) c.2184C>A (p.Gly728=) c.2784C>A (p.Gly928=) c.3405C>A (p.Gly1135=) c.1599C>A (p.Gly533=) | |
2 | g.237372013C>A | CA351197493 | COL6A3 | c.3386G>T (p.Gly1129Val) c.4004G>T (p.Gly1335Val) c.2183G>T (p.Gly728Val) c.2783G>T (p.Gly928Val) c.3404G>T (p.Gly1135Val) c.1598G>T (p.Gly533Val) | COSMIC COSMIC |
2 | g.237372013C= | CA1337623271 | COL6A3 | c.3386G= (p.Gly1129=) c.4004G= (p.Gly1335=) c.2183G= (p.Gly728=) c.2783G= (p.Gly928=) c.3404G= (p.Gly1135=) c.1598G= (p.Gly533=) | |
2 | g.237372013C>G | CA351197501 | COL6A3 | c.3386G>C (p.Gly1129Ala) c.4004G>C (p.Gly1335Ala) c.2183G>C (p.Gly728Ala) c.2783G>C (p.Gly928Ala) c.3404G>C (p.Gly1135Ala) c.1598G>C (p.Gly533Ala) | ClinVar gnomAD v4 |
2 | g.237372013C>T | CA2189022 | COL6A3 | c.3386G>A (p.Gly1129Asp) c.4004G>A (p.Gly1335Asp) c.2183G>A (p.Gly728Asp) c.2783G>A (p.Gly928Asp) c.3404G>A (p.Gly1135Asp) c.1598G>A (p.Gly533Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237372014C>A | CA351197502 | COL6A3 | c.3385G>T (p.Gly1129Cys) c.4003G>T (p.Gly1335Cys) c.2182G>T (p.Gly728Cys) c.2782G>T (p.Gly928Cys) c.3403G>T (p.Gly1135Cys) c.1597G>T (p.Gly533Cys) | |
2 | g.237372014C= | CA1337623272 | COL6A3 | c.3385G= (p.Gly1129=) c.4003G= (p.Gly1335=) c.2182G= (p.Gly728=) c.2782G= (p.Gly928=) c.3403G= (p.Gly1135=) c.1597G= (p.Gly533=) | |
2 | g.237372014C>G | CA351197503 | COL6A3 | c.3385G>C (p.Gly1129Arg) c.4003G>C (p.Gly1335Arg) c.2182G>C (p.Gly728Arg) c.2782G>C (p.Gly928Arg) c.3403G>C (p.Gly1135Arg) c.1597G>C (p.Gly533Arg) | |
2 | g.237372014C>T | CA351197504 | COL6A3 | c.3385G>A (p.Gly1129Ser) c.4003G>A (p.Gly1335Ser) c.2182G>A (p.Gly728Ser) c.2782G>A (p.Gly928Ser) c.3403G>A (p.Gly1135Ser) c.1597G>A (p.Gly533Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237372015C>A | CA351197506 | COL6A3 | c.3384G>T (p.Glu1128Asp) c.4002G>T (p.Glu1334Asp) c.2181G>T (p.Glu727Asp) c.2781G>T (p.Glu927Asp) c.3402G>T (p.Glu1134Asp) c.1596G>T (p.Glu532Asp) | |
2 | g.237372015C>G | CA351197509 | COL6A3 | c.3384G>C (p.Glu1128Asp) c.4002G>C (p.Glu1334Asp) c.2181G>C (p.Glu727Asp) c.2781G>C (p.Glu927Asp) c.3402G>C (p.Glu1134Asp) c.1596G>C (p.Glu532Asp) | |
2 | g.237372015C>T | CA431711382 | COL6A3 | c.3384G>A (p.Glu1128=) c.4002G>A (p.Glu1334=) c.2181G>A (p.Glu727=) c.2781G>A (p.Glu927=) c.3402G>A (p.Glu1134=) c.1596G>A (p.Glu532=) |