Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237371813_237371815del | CA1043809489 | COL6A3 | c.3586_3588del (p.Gln1196del) c.35_37del c.4204_4206del (p.Gln1402del) c.2383_2385del (p.Gln795del) c.2983_2985del (p.Gln995del) c.3604_3606del (p.Gln1202del) c.1798_1800del (p.Gln600del) | dbSNP gnomAD v4 |
2 | g.237371815T>A | CA351196545 | COL6A3 | c.3584A>T (p.Glu1195Val) c.33A>T c.4202A>T (p.Glu1401Val) c.2381A>T (p.Glu794Val) c.2981A>T (p.Glu994Val) c.3602A>T (p.Glu1201Val) c.1796A>T (p.Glu599Val) | gnomAD v4 |
2 | g.237371815T>C | CA351196548 | COL6A3 | c.3584A>G (p.Glu1195Gly) c.33A>G c.4202A>G (p.Glu1401Gly) c.2381A>G (p.Glu794Gly) c.2981A>G (p.Glu994Gly) c.3602A>G (p.Glu1201Gly) c.1796A>G (p.Glu599Gly) | |
2 | g.237371815T>G | CA351196550 | COL6A3 | c.3584A>C (p.Glu1195Ala) c.33A>C c.4202A>C (p.Glu1401Ala) c.2381A>C (p.Glu794Ala) c.2981A>C (p.Glu994Ala) c.3602A>C (p.Glu1201Ala) c.1796A>C (p.Glu599Ala) | |
2 | g.237371816C>A | CA351196551 | COL6A3 | c.3583G>T (p.Glu1195Ter) c.32G>T c.4201G>T (p.Glu1401Ter) c.2380G>T (p.Glu794Ter) c.2980G>T (p.Glu994Ter) c.3601G>T (p.Glu1201Ter) c.1795G>T (p.Glu599Ter) | |
2 | g.237371816C>G | CA351196553 | COL6A3 | c.3583G>C (p.Glu1195Gln) c.32G>C c.4201G>C (p.Glu1401Gln) c.2380G>C (p.Glu794Gln) c.2980G>C (p.Glu994Gln) c.3601G>C (p.Glu1201Gln) c.1795G>C (p.Glu599Gln) | |
2 | g.237371816C>T | CA351196554 | COL6A3 | c.3583G>A (p.Glu1195Lys) c.32G>A c.4201G>A (p.Glu1401Lys) c.2380G>A (p.Glu794Lys) c.2980G>A (p.Glu994Lys) c.3601G>A (p.Glu1201Lys) c.1795G>A (p.Glu599Lys) | |
2 | g.237371817C>A | CA431711179 | COL6A3 | c.3582G>T (p.Leu1194=) c.31G>T c.4200G>T (p.Leu1400=) c.2379G>T (p.Leu793=) c.2979G>T (p.Leu993=) c.3600G>T (p.Leu1200=) c.1794G>T (p.Leu598=) | |
2 | g.237371817C>G | CA431711177 | COL6A3 | c.3582G>C (p.Leu1194=) c.31G>C c.4200G>C (p.Leu1400=) c.2379G>C (p.Leu793=) c.2979G>C (p.Leu993=) c.3600G>C (p.Leu1200=) c.1794G>C (p.Leu598=) | |
2 | g.237371817C>T | CA431711178 | COL6A3 | c.3582G>A (p.Leu1194=) c.31G>A c.4200G>A (p.Leu1400=) c.2379G>A (p.Leu793=) c.2979G>A (p.Leu993=) c.3600G>A (p.Leu1200=) c.1794G>A (p.Leu598=) | |
2 | g.237371818A= | CA1337623161 | COL6A3 | c.3581T= (p.Leu1194=) c.30T= c.4199T= (p.Leu1400=) c.2378T= (p.Leu793=) c.2978T= (p.Leu993=) c.3599T= (p.Leu1200=) c.1793T= (p.Leu598=) | |
2 | g.237371818A>C | CA351196558 | COL6A3 | c.3581T>G (p.Leu1194Arg) c.30T>G c.4199T>G (p.Leu1400Arg) c.2378T>G (p.Leu793Arg) c.2978T>G (p.Leu993Arg) c.3599T>G (p.Leu1200Arg) c.1793T>G (p.Leu598Arg) | |
2 | g.237371818A>G | CA351196556 | COL6A3 | c.3581T>C (p.Leu1194Pro) c.30T>C c.4199T>C (p.Leu1400Pro) c.2378T>C (p.Leu793Pro) c.2978T>C (p.Leu993Pro) c.3599T>C (p.Leu1200Pro) c.1793T>C (p.Leu598Pro) | |
2 | g.237371818A>T | CA351196557 | COL6A3 | c.3581T>A (p.Leu1194Gln) c.30T>A c.4199T>A (p.Leu1400Gln) c.2378T>A (p.Leu793Gln) c.2978T>A (p.Leu993Gln) c.3599T>A (p.Leu1200Gln) c.1793T>A (p.Leu598Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371819G>A | CA2188975 | COL6A3 | c.3580C>T (p.Leu1194=) c.29C>T c.4198C>T (p.Leu1400=) c.2377C>T (p.Leu793=) c.2977C>T (p.Leu993=) c.3598C>T (p.Leu1200=) c.1792C>T (p.Leu598=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371819G>C | CA351196561 | COL6A3 | c.3580C>G (p.Leu1194Val) c.29C>G c.4198C>G (p.Leu1400Val) c.2377C>G (p.Leu793Val) c.2977C>G (p.Leu993Val) c.3598C>G (p.Leu1200Val) c.1792C>G (p.Leu598Val) | |
2 | g.237371819G= | CA1337623162 | COL6A3 | c.3580C= (p.Leu1194=) c.29C= c.4198C= (p.Leu1400=) c.2377C= (p.Leu793=) c.2977C= (p.Leu993=) c.3598C= (p.Leu1200=) c.1792C= (p.Leu598=) | |
2 | g.237371819G>T | CA351196563 | COL6A3 | c.3580C>A (p.Leu1194Met) c.29C>A c.4198C>A (p.Leu1400Met) c.2377C>A (p.Leu793Met) c.2977C>A (p.Leu993Met) c.3598C>A (p.Leu1200Met) c.1792C>A (p.Leu598Met) | |
2 | g.237371821_237371824del | CA2838408441 | COL6A3 | c.3577_3580del (p.Ser1193TrpfsTer6) c.26_29del c.4195_4198del (p.Ser1399TrpfsTer6) c.2374_2377del (p.Ser792TrpfsTer6) c.2974_2977del (p.Ser992TrpfsTer6) c.3595_3598del (p.Ser1199TrpfsTer6) c.1789_1792del (p.Ser597TrpfsTer6) | |
2 | g.237371820G>A | CA2188976 | COL6A3 | c.3579C>T (p.Ser1193=) c.28C>T c.4197C>T (p.Ser1399=) c.2376C>T (p.Ser792=) c.2976C>T (p.Ser992=) c.3597C>T (p.Ser1199=) c.1791C>T (p.Ser597=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237371820G>C | CA351196565 | COL6A3 | c.3579C>G (p.Ser1193Arg) c.28C>G c.4197C>G (p.Ser1399Arg) c.2376C>G (p.Ser792Arg) c.2976C>G (p.Ser992Arg) c.3597C>G (p.Ser1199Arg) c.1791C>G (p.Ser597Arg) | |
2 | g.237371820G= | CA1337623163 | COL6A3 | c.3579C= (p.Ser1193=) c.28C= c.4197C= (p.Ser1399=) c.2376C= (p.Ser792=) c.2976C= (p.Ser992=) c.3597C= (p.Ser1199=) c.1791C= (p.Ser597=) | |
2 | g.237371820G>T | CA2188977 | COL6A3 | c.3579C>A (p.Ser1193Arg) c.28C>A c.4197C>A (p.Ser1399Arg) c.2376C>A (p.Ser792Arg) c.2976C>A (p.Ser992Arg) c.3597C>A (p.Ser1199Arg) c.1791C>A (p.Ser597Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371821C>A | CA351196569 | COL6A3 | c.3578G>T (p.Ser1193Ile) c.27G>T c.4196G>T (p.Ser1399Ile) c.2375G>T (p.Ser792Ile) c.2975G>T (p.Ser992Ile) c.3596G>T (p.Ser1199Ile) c.1790G>T (p.Ser597Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.237371821C= | CA1337623164 | COL6A3 | c.3578G= (p.Ser1193=) c.27G= c.4196G= (p.Ser1399=) c.2375G= (p.Ser792=) c.2975G= (p.Ser992=) c.3596G= (p.Ser1199=) c.1790G= (p.Ser597=) | |
2 | g.237371821C>G | CA351196571 | COL6A3 | c.3578G>C (p.Ser1193Thr) c.27G>C c.4196G>C (p.Ser1399Thr) c.2375G>C (p.Ser792Thr) c.2975G>C (p.Ser992Thr) c.3596G>C (p.Ser1199Thr) c.1790G>C (p.Ser597Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371821C>T | CA351196573 | COL6A3 | c.3578G>A (p.Ser1193Asn) c.27G>A c.4196G>A (p.Ser1399Asn) c.2375G>A (p.Ser792Asn) c.2975G>A (p.Ser992Asn) c.3596G>A (p.Ser1199Asn) c.1790G>A (p.Ser597Asn) | gnomAD v4 |
2 | g.237371822T>A | CA351196576 | COL6A3 | c.3577A>T (p.Ser1193Cys) c.26A>T c.4195A>T (p.Ser1399Cys) c.2374A>T (p.Ser792Cys) c.2974A>T (p.Ser992Cys) c.3595A>T (p.Ser1199Cys) c.1789A>T (p.Ser597Cys) | |
2 | g.237371822T>C | CA351196579 | COL6A3 | c.3577A>G (p.Ser1193Gly) c.26A>G c.4195A>G (p.Ser1399Gly) c.2374A>G (p.Ser792Gly) c.2974A>G (p.Ser992Gly) c.3595A>G (p.Ser1199Gly) c.1789A>G (p.Ser597Gly) | gnomAD v4 |
2 | g.237371822T>G | CA351196581 | COL6A3 | c.3577A>C (p.Ser1193Arg) c.26A>C c.4195A>C (p.Ser1399Arg) c.2374A>C (p.Ser792Arg) c.2974A>C (p.Ser992Arg) c.3595A>C (p.Ser1199Arg) c.1789A>C (p.Ser597Arg) | |
2 | g.237371822_237371823delinsTG | CA1337623165 | COL6A3 | c.3576_3577delinsCA (p.Pro1192=) c.25_26delinsCA c.4194_4195delinsCA (p.Pro1398=) c.2373_2374delinsCA (p.Pro791=) c.2973_2974delinsCA (p.Pro991=) c.3594_3595delinsCA (p.Pro1198=) c.1788_1789delinsCA (p.Pro596=) | |
2 | g.237371823G>A | CA431711183 | COL6A3 | c.3576C>T (p.Pro1192=) c.25C>T c.4194C>T (p.Pro1398=) c.2373C>T (p.Pro791=) c.2973C>T (p.Pro991=) c.3594C>T (p.Pro1198=) c.1788C>T (p.Pro596=) | |
2 | g.237371823G>C | CA431711184 | COL6A3 | c.3576C>G (p.Pro1192=) c.25C>G c.4194C>G (p.Pro1398=) c.2373C>G (p.Pro791=) c.2973C>G (p.Pro991=) c.3594C>G (p.Pro1198=) c.1788C>G (p.Pro596=) | |
2 | g.237371823G>T | CA431711185 | COL6A3 | c.3576C>A (p.Pro1192=) c.25C>A c.4194C>A (p.Pro1398=) c.2373C>A (p.Pro791=) c.2973C>A (p.Pro991=) c.3594C>A (p.Pro1198=) c.1788C>A (p.Pro596=) | |
2 | g.237371825del | CA766586999 | COL6A3 | c.3576del (p.Ser1193AlafsTer7) c.25del c.4194del (p.Ser1399AlafsTer7) c.2373del (p.Ser792AlafsTer7) c.2973del (p.Ser992AlafsTer7) c.3594del (p.Ser1199AlafsTer7) c.1788del (p.Ser597AlafsTer7) | dbSNP |
2 | g.237371824G>A | CA351196582 | COL6A3 | c.3575C>T (p.Pro1192Leu) c.24C>T c.4193C>T (p.Pro1398Leu) c.2372C>T (p.Pro791Leu) c.2972C>T (p.Pro991Leu) c.3593C>T (p.Pro1198Leu) c.1787C>T (p.Pro596Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237371824G>C | CA351196586 | COL6A3 | c.3575C>G (p.Pro1192Arg) c.24C>G c.4193C>G (p.Pro1398Arg) c.2372C>G (p.Pro791Arg) c.2972C>G (p.Pro991Arg) c.3593C>G (p.Pro1198Arg) c.1787C>G (p.Pro596Arg) | |
2 | g.237371824G= | CA1337623166 | COL6A3 | c.3575C= (p.Pro1192=) c.24C= c.4193C= (p.Pro1398=) c.2372C= (p.Pro791=) c.2972C= (p.Pro991=) c.3593C= (p.Pro1198=) c.1787C= (p.Pro596=) | |
2 | g.237371824G>T | CA351196584 | COL6A3 | c.3575C>A (p.Pro1192His) c.24C>A c.4193C>A (p.Pro1398His) c.2372C>A (p.Pro791His) c.2972C>A (p.Pro991His) c.3593C>A (p.Pro1198His) c.1787C>A (p.Pro596His) | |
2 | g.237371825G>A | CA351196588 | COL6A3 | c.3574C>T (p.Pro1192Ser) c.23C>T c.4192C>T (p.Pro1398Ser) c.2371C>T (p.Pro791Ser) c.2971C>T (p.Pro991Ser) c.3592C>T (p.Pro1198Ser) c.1786C>T (p.Pro596Ser) | COSMIC COSMIC |
2 | g.237371825G>C | CA351196590 | COL6A3 | c.3574C>G (p.Pro1192Ala) c.23C>G c.4192C>G (p.Pro1398Ala) c.2371C>G (p.Pro791Ala) c.2971C>G (p.Pro991Ala) c.3592C>G (p.Pro1198Ala) c.1786C>G (p.Pro596Ala) | |
2 | g.237371825G>T | CA351196593 | COL6A3 | c.3574C>A (p.Pro1192Thr) c.23C>A c.4192C>A (p.Pro1398Thr) c.2371C>A (p.Pro791Thr) c.2971C>A (p.Pro991Thr) c.3592C>A (p.Pro1198Thr) c.1786C>A (p.Pro596Thr) | |
2 | g.237371826C>A | CA431711189 | COL6A3 | c.3573G>T (p.Leu1191=) c.22G>T c.4191G>T (p.Leu1397=) c.2370G>T (p.Leu790=) c.2970G>T (p.Leu990=) c.3591G>T (p.Leu1197=) c.1785G>T (p.Leu595=) | |
2 | g.237371826C>G | CA431711191 | COL6A3 | c.3573G>C (p.Leu1191=) c.22G>C c.4191G>C (p.Leu1397=) c.2370G>C (p.Leu790=) c.2970G>C (p.Leu990=) c.3591G>C (p.Leu1197=) c.1785G>C (p.Leu595=) | gnomAD v4 |
2 | g.237371826C>T | CA431711190 | COL6A3 | c.3573G>A (p.Leu1191=) c.22G>A c.4191G>A (p.Leu1397=) c.2370G>A (p.Leu790=) c.2970G>A (p.Leu990=) c.3591G>A (p.Leu1197=) c.1785G>A (p.Leu595=) | gnomAD v4 |
2 | g.237371826dup | CA2838408442 | COL6A3 | c.3573dup (p.Pro1192AlafsTer?) c.22dup c.4191dup (p.Pro1398AlafsTer?) c.2370dup (p.Pro791AlafsTer?) c.2970dup (p.Pro991AlafsTer?) c.3591dup (p.Pro1198AlafsTer?) c.1785dup (p.Pro596AlafsTer?) | |
2 | g.237371827A= | CA1337623167 | COL6A3 | c.3572T= (p.Leu1191=) c.21T= c.4190T= (p.Leu1397=) c.2369T= (p.Leu790=) c.2969T= (p.Leu990=) c.3590T= (p.Leu1197=) c.1784T= (p.Leu595=) | |
2 | g.237371827A>C | CA351196595 | COL6A3 | c.3572T>G (p.Leu1191Arg) c.21T>G c.4190T>G (p.Leu1397Arg) c.2369T>G (p.Leu790Arg) c.2969T>G (p.Leu990Arg) c.3590T>G (p.Leu1197Arg) c.1784T>G (p.Leu595Arg) | gnomAD v4 |
2 | g.237371827A>G | CA2188978 | COL6A3 | c.3572T>C (p.Leu1191Pro) c.21T>C c.4190T>C (p.Leu1397Pro) c.2369T>C (p.Leu790Pro) c.2969T>C (p.Leu990Pro) c.3590T>C (p.Leu1197Pro) c.1784T>C (p.Leu595Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237371827A>T | CA351196597 | COL6A3 | c.3572T>A (p.Leu1191Gln) c.21T>A c.4190T>A (p.Leu1397Gln) c.2369T>A (p.Leu790Gln) c.2969T>A (p.Leu990Gln) c.3590T>A (p.Leu1197Gln) c.1784T>A (p.Leu595Gln) | |
2 | g.237371828G>A | CA431711192 | COL6A3 | c.3571C>T (p.Leu1191=) c.20C>T c.4189C>T (p.Leu1397=) c.2368C>T (p.Leu790=) c.2968C>T (p.Leu990=) c.3589C>T (p.Leu1197=) c.1783C>T (p.Leu595=) | gnomAD v4 |
2 | g.237371828G>C | CA351196599 | COL6A3 | c.3571C>G (p.Leu1191Val) c.20C>G c.4189C>G (p.Leu1397Val) c.2368C>G (p.Leu790Val) c.2968C>G (p.Leu990Val) c.3589C>G (p.Leu1197Val) c.1783C>G (p.Leu595Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371828G= | CA1337623168 | COL6A3 | c.3571C= (p.Leu1191=) c.20C= c.4189C= (p.Leu1397=) c.2368C= (p.Leu790=) c.2968C= (p.Leu990=) c.3589C= (p.Leu1197=) c.1783C= (p.Leu595=) | |
2 | g.237371828G>T | CA351196601 | COL6A3 | c.3571C>A (p.Leu1191Met) c.20C>A c.4189C>A (p.Leu1397Met) c.2368C>A (p.Leu790Met) c.2968C>A (p.Leu990Met) c.3589C>A (p.Leu1197Met) c.1783C>A (p.Leu595Met) | |
2 | g.237371829C>A | CA351196604 | COL6A3 | c.3570G>T (p.Glu1190Asp) c.19G>T c.4188G>T (p.Glu1396Asp) c.2367G>T (p.Glu789Asp) c.2967G>T (p.Glu989Asp) c.3588G>T (p.Glu1196Asp) c.1782G>T (p.Glu594Asp) | |
2 | g.237371829C= | CA1337623169 | COL6A3 | c.3570G= (p.Glu1190=) c.19G= c.4188G= (p.Glu1396=) c.2367G= (p.Glu789=) c.2967G= (p.Glu989=) c.3588G= (p.Glu1196=) c.1782G= (p.Glu594=) | |
2 | g.237371829C>G | CA351196606 | COL6A3 | c.3570G>C (p.Glu1190Asp) c.19G>C c.4188G>C (p.Glu1396Asp) c.2367G>C (p.Glu789Asp) c.2967G>C (p.Glu989Asp) c.3588G>C (p.Glu1196Asp) c.1782G>C (p.Glu594Asp) | |
2 | g.237371829C>T | CA431711194 | COL6A3 | c.3570G>A (p.Glu1190=) c.19G>A c.4188G>A (p.Glu1396=) c.2367G>A (p.Glu789=) c.2967G>A (p.Glu989=) c.3588G>A (p.Glu1196=) c.1782G>A (p.Glu594=) | ClinVar dbSNP |
2 | g.237371830T>A | CA351196608 | COL6A3 | c.3569A>T (p.Glu1190Val) c.18A>T c.4187A>T (p.Glu1396Val) c.2366A>T (p.Glu789Val) c.2966A>T (p.Glu989Val) c.3587A>T (p.Glu1196Val) c.1781A>T (p.Glu594Val) | |
2 | g.237371830T>C | CA351196610 | COL6A3 | c.3569A>G (p.Glu1190Gly) c.18A>G c.4187A>G (p.Glu1396Gly) c.2366A>G (p.Glu789Gly) c.2966A>G (p.Glu989Gly) c.3587A>G (p.Glu1196Gly) c.1781A>G (p.Glu594Gly) | |
2 | g.237371830T>G | CA351196612 | COL6A3 | c.3569A>C (p.Glu1190Ala) c.18A>C c.4187A>C (p.Glu1396Ala) c.2366A>C (p.Glu789Ala) c.2966A>C (p.Glu989Ala) c.3587A>C (p.Glu1196Ala) c.1781A>C (p.Glu594Ala) | |
2 | g.237371831C>A | CA351196614 | COL6A3 | c.3568G>T (p.Glu1190Ter) c.17G>T c.4186G>T (p.Glu1396Ter) c.2365G>T (p.Glu789Ter) c.2965G>T (p.Glu989Ter) c.3586G>T (p.Glu1196Ter) c.1780G>T (p.Glu594Ter) | |
2 | g.237371831C>G | CA351196618 | COL6A3 | c.3568G>C (p.Glu1190Gln) c.17G>C c.4186G>C (p.Glu1396Gln) c.2365G>C (p.Glu789Gln) c.2965G>C (p.Glu989Gln) c.3586G>C (p.Glu1196Gln) c.1780G>C (p.Glu594Gln) | |
2 | g.237371831C>T | CA351196616 | COL6A3 | c.3568G>A (p.Glu1190Lys) c.17G>A c.4186G>A (p.Glu1396Lys) c.2365G>A (p.Glu789Lys) c.2965G>A (p.Glu989Lys) c.3586G>A (p.Glu1196Lys) c.1780G>A (p.Glu594Lys) | |
2 | g.237371833dup | CA2577289968 | COL6A3 | c.3568dup (p.Glu1190GlyfsTer?) c.17dup c.4186dup (p.Glu1396GlyfsTer?) c.2365dup (p.Glu789GlyfsTer?) c.2965dup (p.Glu989GlyfsTer?) c.3586dup (p.Glu1196GlyfsTer?) c.1780dup (p.Glu594GlyfsTer?) | |
2 | g.237371832C>A | CA431711195 | COL6A3 | c.3567G>T (p.Arg1189=) c.16G>T c.4185G>T (p.Arg1395=) c.2364G>T (p.Arg788=) c.2964G>T (p.Arg988=) c.3585G>T (p.Arg1195=) c.1779G>T (p.Arg593=) | |
2 | g.237371832C>G | CA431711196 | COL6A3 | c.3567G>C (p.Arg1189=) c.16G>C c.4185G>C (p.Arg1395=) c.2364G>C (p.Arg788=) c.2964G>C (p.Arg988=) c.3585G>C (p.Arg1195=) c.1779G>C (p.Arg593=) | |
2 | g.237371832C>T | CA431711197 | COL6A3 | c.3567G>A (p.Arg1189=) c.16G>A c.4185G>A (p.Arg1395=) c.2364G>A (p.Arg788=) c.2964G>A (p.Arg988=) c.3585G>A (p.Arg1195=) c.1779G>A (p.Arg593=) | |
2 | g.237371833C>A | CA351196620 | COL6A3 | c.3566G>T (p.Arg1189Leu) c.15G>T c.4184G>T (p.Arg1395Leu) c.2363G>T (p.Arg788Leu) c.2963G>T (p.Arg988Leu) c.3584G>T (p.Arg1195Leu) c.1778G>T (p.Arg593Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371833C= | CA1337623170 | COL6A3 | c.3566G= (p.Arg1189=) c.15G= c.4184G= (p.Arg1395=) c.2363G= (p.Arg788=) c.2963G= (p.Arg988=) c.3584G= (p.Arg1195=) c.1778G= (p.Arg593=) | |
2 | g.237371833C>G | CA351196622 | COL6A3 | c.3566G>C (p.Arg1189Pro) c.15G>C c.4184G>C (p.Arg1395Pro) c.2363G>C (p.Arg788Pro) c.2963G>C (p.Arg988Pro) c.3584G>C (p.Arg1195Pro) c.1778G>C (p.Arg593Pro) | |
2 | g.237371833C>T | CA147959 | COL6A3 | c.3566G>A (p.Arg1189Gln) c.15G>A c.4184G>A (p.Arg1395Gln) c.2363G>A (p.Arg788Gln) c.2963G>A (p.Arg988Gln) c.3584G>A (p.Arg1195Gln) c.1778G>A (p.Arg593Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371834G>A | CA2188979 | COL6A3 | c.3565C>T (p.Arg1189Trp) c.14C>T c.4183C>T (p.Arg1395Trp) c.2362C>T (p.Arg788Trp) c.2962C>T (p.Arg988Trp) c.3583C>T (p.Arg1195Trp) c.1777C>T (p.Arg593Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237371834G>C | CA351196626 | COL6A3 | c.3565C>G (p.Arg1189Gly) c.14C>G c.4183C>G (p.Arg1395Gly) c.2362C>G (p.Arg788Gly) c.2962C>G (p.Arg988Gly) c.3583C>G (p.Arg1195Gly) c.1777C>G (p.Arg593Gly) | |
2 | g.237371834G= | CA1337623171 | COL6A3 | c.3565C= (p.Arg1189=) c.14C= c.4183C= (p.Arg1395=) c.2362C= (p.Arg788=) c.2962C= (p.Arg988=) c.3583C= (p.Arg1195=) c.1777C= (p.Arg593=) | |
2 | g.237371834G>T | CA431711198 | COL6A3 | c.3565C>A (p.Arg1189=) c.14C>A c.4183C>A (p.Arg1395=) c.2362C>A (p.Arg788=) c.2962C>A (p.Arg988=) c.3583C>A (p.Arg1195=) c.1777C>A (p.Arg593=) | |
2 | g.237371835G>A | CA431711199 | COL6A3 | c.3564C>T (p.Phe1188=) c.13C>T c.4182C>T (p.Phe1394=) c.2361C>T (p.Phe787=) c.2961C>T (p.Phe987=) c.3582C>T (p.Phe1194=) c.1776C>T (p.Phe592=) | |
2 | g.237371835G>C | CA351196628 | COL6A3 | c.3564C>G (p.Phe1188Leu) c.13C>G c.4182C>G (p.Phe1394Leu) c.2361C>G (p.Phe787Leu) c.2961C>G (p.Phe987Leu) c.3582C>G (p.Phe1194Leu) c.1776C>G (p.Phe592Leu) | |
2 | g.237371835G>T | CA351196630 | COL6A3 | c.3564C>A (p.Phe1188Leu) c.13C>A c.4182C>A (p.Phe1394Leu) c.2361C>A (p.Phe787Leu) c.2961C>A (p.Phe987Leu) c.3582C>A (p.Phe1194Leu) c.1776C>A (p.Phe592Leu) | |
2 | g.237371836A>C | CA351196632 | COL6A3 | c.3563T>G (p.Phe1188Cys) c.12T>G c.4181T>G (p.Phe1394Cys) c.2360T>G (p.Phe787Cys) c.2960T>G (p.Phe987Cys) c.3581T>G (p.Phe1194Cys) c.1775T>G (p.Phe592Cys) | |
2 | g.237371836A>G | CA351196634 | COL6A3 | c.3563T>C (p.Phe1188Ser) c.12T>C c.4181T>C (p.Phe1394Ser) c.2360T>C (p.Phe787Ser) c.2960T>C (p.Phe987Ser) c.3581T>C (p.Phe1194Ser) c.1775T>C (p.Phe592Ser) | |
2 | g.237371836A>T | CA351196637 | COL6A3 | c.3563T>A (p.Phe1188Tyr) c.12T>A c.4181T>A (p.Phe1394Tyr) c.2360T>A (p.Phe787Tyr) c.2960T>A (p.Phe987Tyr) c.3581T>A (p.Phe1194Tyr) c.1775T>A (p.Phe592Tyr) | |
2 | g.237371837del | CA2663798954 | COL6A3 | c.3563del (p.Phe1188SerfsTer12) c.12del c.4181del (p.Phe1394SerfsTer12) c.2360del (p.Phe787SerfsTer12) c.2960del (p.Phe987SerfsTer12) c.3581del (p.Phe1194SerfsTer12) c.1775del (p.Phe592SerfsTer12) | gnomAD v4 |
2 | g.237371837A= | CA1337623172 | COL6A3 | c.3562T= (p.Phe1188=) c.11T= c.4180T= (p.Phe1394=) c.2359T= (p.Phe787=) c.2959T= (p.Phe987=) c.3580T= (p.Phe1194=) c.1774T= (p.Phe592=) | |
2 | g.237371837A>C | CA351196642 | COL6A3 | c.3562T>G (p.Phe1188Val) c.11T>G c.4180T>G (p.Phe1394Val) c.2359T>G (p.Phe787Val) c.2959T>G (p.Phe987Val) c.3580T>G (p.Phe1194Val) c.1774T>G (p.Phe592Val) | |
2 | g.237371837A>G | CA2188980 | COL6A3 | c.3562T>C (p.Phe1188Leu) c.11T>C c.4180T>C (p.Phe1394Leu) c.2359T>C (p.Phe787Leu) c.2959T>C (p.Phe987Leu) c.3580T>C (p.Phe1194Leu) c.1774T>C (p.Phe592Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371837A>T | CA351196640 | COL6A3 | c.3562T>A (p.Phe1188Ile) c.11T>A c.4180T>A (p.Phe1394Ile) c.2359T>A (p.Phe787Ile) c.2959T>A (p.Phe987Ile) c.3580T>A (p.Phe1194Ile) c.1774T>A (p.Phe592Ile) | |
2 | g.237371838G>A | CA431711200 | COL6A3 | c.3561C>T (p.Thr1187=) c.10C>T c.4179C>T (p.Thr1393=) c.2358C>T (p.Thr786=) c.2958C>T (p.Thr986=) c.3579C>T (p.Thr1193=) c.1773C>T (p.Thr591=) | |
2 | g.237371838G>C | CA431711202 | COL6A3 | c.3561C>G (p.Thr1187=) c.10C>G c.4179C>G (p.Thr1393=) c.2358C>G (p.Thr786=) c.2958C>G (p.Thr986=) c.3579C>G (p.Thr1193=) c.1773C>G (p.Thr591=) | |
2 | g.237371838G>T | CA431711201 | COL6A3 | c.3561C>A (p.Thr1187=) c.10C>A c.4179C>A (p.Thr1393=) c.2358C>A (p.Thr786=) c.2958C>A (p.Thr986=) c.3579C>A (p.Thr1193=) c.1773C>A (p.Thr591=) | gnomAD v4 |
2 | g.237371839G>A | CA351196649 | COL6A3 | c.3560C>T (p.Thr1187Ile) c.9C>T c.4178C>T (p.Thr1393Ile) c.2357C>T (p.Thr786Ile) c.2957C>T (p.Thr986Ile) c.3578C>T (p.Thr1193Ile) c.1772C>T (p.Thr591Ile) | |
2 | g.237371839G>C | CA351196646 | COL6A3 | c.3560C>G (p.Thr1187Ser) c.9C>G c.4178C>G (p.Thr1393Ser) c.2357C>G (p.Thr786Ser) c.2957C>G (p.Thr986Ser) c.3578C>G (p.Thr1193Ser) c.1772C>G (p.Thr591Ser) | ClinVar dbSNP |
2 | g.237371839G= | CA1337623173 | COL6A3 | c.3560C= (p.Thr1187=) c.9C= c.4178C= (p.Thr1393=) c.2357C= (p.Thr786=) c.2957C= (p.Thr986=) c.3578C= (p.Thr1193=) c.1772C= (p.Thr591=) | |
2 | g.237371839G>T | CA351196647 | COL6A3 | c.3560C>A (p.Thr1187Asn) c.9C>A c.4178C>A (p.Thr1393Asn) c.2357C>A (p.Thr786Asn) c.2957C>A (p.Thr986Asn) c.3578C>A (p.Thr1193Asn) c.1772C>A (p.Thr591Asn) | |
2 | g.237371840T>A | CA351196651 | COL6A3 | c.3559A>T (p.Thr1187Ser) c.8A>T c.4177A>T (p.Thr1393Ser) c.2356A>T (p.Thr786Ser) c.2956A>T (p.Thr986Ser) c.3577A>T (p.Thr1193Ser) c.1771A>T (p.Thr591Ser) | |
2 | g.237371840T>C | CA351196652 | COL6A3 | c.3559A>G (p.Thr1187Ala) c.8A>G c.4177A>G (p.Thr1393Ala) c.2356A>G (p.Thr786Ala) c.2956A>G (p.Thr986Ala) c.3577A>G (p.Thr1193Ala) c.1771A>G (p.Thr591Ala) | |
2 | g.237371840T>G | CA351196655 | COL6A3 | c.3559A>C (p.Thr1187Pro) c.8A>C c.4177A>C (p.Thr1393Pro) c.2356A>C (p.Thr786Pro) c.2956A>C (p.Thr986Pro) c.3577A>C (p.Thr1193Pro) c.1771A>C (p.Thr591Pro) | dbSNP |
2 | g.237371840T= | CA1337623174 | COL6A3 | c.3559A= (p.Thr1187=) c.8A= c.4177A= (p.Thr1393=) c.2356A= (p.Thr786=) c.2956A= (p.Thr986=) c.3577A= (p.Thr1193=) c.1771A= (p.Thr591=) | |
2 | g.237371841G>A | CA431711206 | COL6A3 | c.3558C>T (p.Ser1186=) c.7C>T c.4176C>T (p.Ser1392=) c.2355C>T (p.Ser785=) c.2955C>T (p.Ser985=) c.3576C>T (p.Ser1192=) c.1770C>T (p.Ser590=) | |
2 | g.237371841G>C | CA351196656 | COL6A3 | c.3558C>G (p.Ser1186Arg) c.7C>G c.4176C>G (p.Ser1392Arg) c.2355C>G (p.Ser785Arg) c.2955C>G (p.Ser985Arg) c.3576C>G (p.Ser1192Arg) c.1770C>G (p.Ser590Arg) | |
2 | g.237371841G>T | CA351196658 | COL6A3 | c.3558C>A (p.Ser1186Arg) c.7C>A c.4176C>A (p.Ser1392Arg) c.2355C>A (p.Ser785Arg) c.2955C>A (p.Ser985Arg) c.3576C>A (p.Ser1192Arg) c.1770C>A (p.Ser590Arg) | gnomAD v4 |
2 | g.237371842C>A | CA351196659 | COL6A3 | c.3557G>T (p.Ser1186Ile) c.6G>T c.4175G>T (p.Ser1392Ile) c.2354G>T (p.Ser785Ile) c.2954G>T (p.Ser985Ile) c.3575G>T (p.Ser1192Ile) c.1769G>T (p.Ser590Ile) | |
2 | g.237371842C= | CA1337623175 | COL6A3 | c.3557G= (p.Ser1186=) c.6G= c.4175G= (p.Ser1392=) c.2354G= (p.Ser785=) c.2954G= (p.Ser985=) c.3575G= (p.Ser1192=) c.1769G= (p.Ser590=) | |
2 | g.237371842C>G | CA351196662 | COL6A3 | c.3557G>C (p.Ser1186Thr) c.6G>C c.4175G>C (p.Ser1392Thr) c.2354G>C (p.Ser785Thr) c.2954G>C (p.Ser985Thr) c.3575G>C (p.Ser1192Thr) c.1769G>C (p.Ser590Thr) | |
2 | g.237371842C>T | CA351196664 | COL6A3 | c.3557G>A (p.Ser1186Asn) c.6G>A c.4175G>A (p.Ser1392Asn) c.2354G>A (p.Ser785Asn) c.2954G>A (p.Ser985Asn) c.3575G>A (p.Ser1192Asn) c.1769G>A (p.Ser590Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371843T>A | CA351196667 | COL6A3 | c.3556A>T (p.Ser1186Cys) c.5A>T c.4174A>T (p.Ser1392Cys) c.2353A>T (p.Ser785Cys) c.2953A>T (p.Ser985Cys) c.3574A>T (p.Ser1192Cys) c.1768A>T (p.Ser590Cys) | |
2 | g.237371843T>C | CA351196669 | COL6A3 | c.3556A>G (p.Ser1186Gly) c.5A>G c.4174A>G (p.Ser1392Gly) c.2353A>G (p.Ser785Gly) c.2953A>G (p.Ser985Gly) c.3574A>G (p.Ser1192Gly) c.1768A>G (p.Ser590Gly) | |
2 | g.237371843T>G | CA351196671 | COL6A3 | c.3556A>C (p.Ser1186Arg) c.5A>C c.4174A>C (p.Ser1392Arg) c.2353A>C (p.Ser785Arg) c.2953A>C (p.Ser985Arg) c.3574A>C (p.Ser1192Arg) c.1768A>C (p.Ser590Arg) | |
2 | g.237371844C>A | CA431711208 | COL6A3 | c.3555G>T (p.Val1185=) c.4G>T c.4173G>T (p.Val1391=) c.2352G>T (p.Val784=) c.2952G>T (p.Val984=) c.3573G>T (p.Val1191=) c.1767G>T (p.Val589=) | |
2 | g.237371844C= | CA1337623176 | COL6A3 | c.3555G= (p.Val1185=) c.4G= c.4173G= (p.Val1391=) c.2352G= (p.Val784=) c.2952G= (p.Val984=) c.3573G= (p.Val1191=) c.1767G= (p.Val589=) | |
2 | g.237371844C>G | CA431711209 | COL6A3 | c.3555G>C (p.Val1185=) c.4G>C c.4173G>C (p.Val1391=) c.2352G>C (p.Val784=) c.2952G>C (p.Val984=) c.3573G>C (p.Val1191=) c.1767G>C (p.Val589=) | |
2 | g.237371844C>T | CA431711210 | COL6A3 | c.3555G>A (p.Val1185=) c.4G>A c.4173G>A (p.Val1391=) c.2352G>A (p.Val784=) c.2952G>A (p.Val984=) c.3573G>A (p.Val1191=) c.1767G>A (p.Val589=) | ClinVar dbSNP |
2 | g.237371845A>C | CA351196678 | COL6A3 | c.3554T>G (p.Val1185Gly) c.3T>G c.4172T>G (p.Val1391Gly) c.2351T>G (p.Val784Gly) c.2951T>G (p.Val984Gly) c.3572T>G (p.Val1191Gly) c.1766T>G (p.Val589Gly) | |
2 | g.237371845A>G | CA351196674 | COL6A3 | c.3554T>C (p.Val1185Ala) c.3T>C c.4172T>C (p.Val1391Ala) c.2351T>C (p.Val784Ala) c.2951T>C (p.Val984Ala) c.3572T>C (p.Val1191Ala) c.1766T>C (p.Val589Ala) | |
2 | g.237371845A>T | CA351196675 | COL6A3 | c.3554T>A (p.Val1185Glu) c.3T>A c.4172T>A (p.Val1391Glu) c.2351T>A (p.Val784Glu) c.2951T>A (p.Val984Glu) c.3572T>A (p.Val1191Glu) c.1766T>A (p.Val589Glu) | |
2 | g.237371846C>A | CA351196680 | COL6A3 | c.3553G>T (p.Val1185Leu) c.2G>T c.4171G>T (p.Val1391Leu) c.2350G>T (p.Val784Leu) c.2950G>T (p.Val984Leu) c.3571G>T (p.Val1191Leu) c.1765G>T (p.Val589Leu) | |
2 | g.237371846C= | CA1337623177 | COL6A3 | c.3553G= (p.Val1185=) c.2G= c.4171G= (p.Val1391=) c.2350G= (p.Val784=) c.2950G= (p.Val984=) c.3571G= (p.Val1191=) c.1765G= (p.Val589=) | |
2 | g.237371846C>G | CA351196682 | COL6A3 | c.3553G>C (p.Val1185Leu) c.2G>C c.4171G>C (p.Val1391Leu) c.2350G>C (p.Val784Leu) c.2950G>C (p.Val984Leu) c.3571G>C (p.Val1191Leu) c.1765G>C (p.Val589Leu) | |
2 | g.237371846C>T | CA351196684 | COL6A3 | c.3553G>A (p.Val1185Met) c.2G>A c.4171G>A (p.Val1391Met) c.2350G>A (p.Val784Met) c.2950G>A (p.Val984Met) c.3571G>A (p.Val1191Met) c.1765G>A (p.Val589Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371847C>A | CA431711211 | COL6A3 | c.3552G>T (p.Ser1184=) c.1G>T c.4170G>T (p.Ser1390=) c.2349G>T (p.Ser783=) c.2949G>T (p.Ser983=) c.3570G>T (p.Ser1190=) c.1764G>T (p.Ser588=) | |
2 | g.237371847C= | CA1337623178 | COL6A3 | c.3552G= (p.Ser1184=) c.1G= c.4170G= (p.Ser1390=) c.2349G= (p.Ser783=) c.2949G= (p.Ser983=) c.3570G= (p.Ser1190=) c.1764G= (p.Ser588=) | |
2 | g.237371847C>G | CA431711212 | COL6A3 | c.3552G>C (p.Ser1184=) c.1G>C c.4170G>C (p.Ser1390=) c.2349G>C (p.Ser783=) c.2949G>C (p.Ser983=) c.3570G>C (p.Ser1190=) c.1764G>C (p.Ser588=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371847C>T | CA2188981 | COL6A3 | c.3552G>A (p.Ser1184=) c.1G>A c.4170G>A (p.Ser1390=) c.2349G>A (p.Ser783=) c.2949G>A (p.Ser983=) c.3570G>A (p.Ser1190=) c.1764G>A (p.Ser588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237371847_237371848insTTTTT | CA1043809532 | COL6A3 | c.3551_3552insAAAAA (p.Val1185LysfsTer3) c.4169_4170insAAAAA (p.Val1391LysfsTer3) c.2348_2349insAAAAA (p.Val784LysfsTer3) c.2948_2949insAAAAA (p.Val984LysfsTer3) c.3569_3570insAAAAA (p.Val1191LysfsTer3) c.1763_1764insAAAAA (p.Val589LysfsTer3) | gnomAD v3 gnomAD v4 |
2 | g.237371847_237371848insTTTTTTAAT | CA540749832 | COL6A3 | c.3551_3552insATTAAAAAA (p.Ser1184_Val1185insLeuLysLys) c.4169_4170insATTAAAAAA (p.Ser1390_Val1391insLeuLysLys) c.2348_2349insATTAAAAAA (p.Ser783_Val784insLeuLysLys) c.2948_2949insATTAAAAAA (p.Ser983_Val984insLeuLysLys) c.3569_3570insATTAAAAAA (p.Ser1190_Val1191insLeuLysLys) c.1763_1764insATTAAAAAA (p.Ser588_Val589insLeuLysLys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371847_237371848insTTTTTTACT | CA1043809528 | COL6A3 | c.3551_3552insAGTAAAAAA (p.Ser1184_Val1185insValLysLys) c.4169_4170insAGTAAAAAA (p.Ser1390_Val1391insValLysLys) c.2348_2349insAGTAAAAAA (p.Ser783_Val784insValLysLys) c.2948_2949insAGTAAAAAA (p.Ser983_Val984insValLysLys) c.3569_3570insAGTAAAAAA (p.Ser1190_Val1191insValLysLys) c.1763_1764insAGTAAAAAA (p.Ser588_Val589insValLysLys) | gnomAD v3 gnomAD v4 |
2 | g.237371848G>A | CA2188982 | COL6A3 | c.3551C>T (p.Ser1184Leu) c.4169C>T (p.Ser1390Leu) c.2348C>T (p.Ser783Leu) c.2948C>T (p.Ser983Leu) c.3569C>T (p.Ser1190Leu) c.1763C>T (p.Ser588Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371848G>C | CA351196687 | COL6A3 | c.3551C>G (p.Ser1184Trp) c.4169C>G (p.Ser1390Trp) c.2348C>G (p.Ser783Trp) c.2948C>G (p.Ser983Trp) c.3569C>G (p.Ser1190Trp) c.1763C>G (p.Ser588Trp) | |
2 | g.237371848G= | CA1337623179 | COL6A3 | c.3551C= (p.Ser1184=) c.4169C= (p.Ser1390=) c.2348C= (p.Ser783=) c.2948C= (p.Ser983=) c.3569C= (p.Ser1190=) c.1763C= (p.Ser588=) | |
2 | g.237371848G>T | CA351196688 | COL6A3 | c.3551C>A (p.Ser1184Ter) c.4169C>A (p.Ser1390Ter) c.2348C>A (p.Ser783Ter) c.2948C>A (p.Ser983Ter) c.3569C>A (p.Ser1190Ter) c.1763C>A (p.Ser588Ter) | gnomAD v3 gnomAD v4 |
2 | g.237371848_237371855delinsGAGAACAC | CA1337623180 | COL6A3 | c.3544_3551delinsGTGTTCTC (p.Val1182=) c.4162_4169delinsGTGTTCTC (p.Val1388=) c.2341_2348delinsGTGTTCTC (p.Val781=) c.2941_2948delinsGTGTTCTC (p.Val981=) c.3562_3569delinsGTGTTCTC (p.Val1188=) c.1756_1763delinsGTGTTCTC (p.Val586=) | |
2 | g.237371848_237371856del | CA1043809530 | COL6A3 | c.3543_3551del (p.Tyr1181Ter) c.4161_4169del (p.Tyr1387Ter) c.2340_2348del (p.Tyr780Ter) c.2940_2948del (p.Tyr980Ter) c.3561_3569del (p.Tyr1187Ter) c.1755_1763del (p.Tyr585Ter) | gnomAD v3 gnomAD v4 |
2 | g.237371849A>C | CA351196692 | COL6A3 | c.3550T>G (p.Ser1184Ala) c.4168T>G (p.Ser1390Ala) c.2347T>G (p.Ser783Ala) c.2947T>G (p.Ser983Ala) c.3568T>G (p.Ser1190Ala) c.1762T>G (p.Ser588Ala) | |
2 | g.237371849A>G | CA351196694 | COL6A3 | c.3550T>C (p.Ser1184Pro) c.4168T>C (p.Ser1390Pro) c.2347T>C (p.Ser783Pro) c.2947T>C (p.Ser983Pro) c.3568T>C (p.Ser1190Pro) c.1762T>C (p.Ser588Pro) | |
2 | g.237371849A>T | CA351196696 | COL6A3 | c.3550T>A (p.Ser1184Thr) c.4168T>A (p.Ser1390Thr) c.2347T>A (p.Ser783Thr) c.2947T>A (p.Ser983Thr) c.3568T>A (p.Ser1190Thr) c.1762T>A (p.Ser588Thr) | |
2 | g.237371850_237371856del | CA540749833 | COL6A3 | c.3544_3550del (p.Val1182ArgfsTer2) c.4162_4168del (p.Val1388ArgfsTer2) c.2341_2347del (p.Val781ArgfsTer2) c.2941_2947del (p.Val981ArgfsTer2) c.3562_3568del (p.Val1188ArgfsTer2) c.1756_1762del (p.Val586ArgfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371850G>A | CA431711217 | COL6A3 | c.3549C>T (p.Phe1183=) c.4167C>T (p.Phe1389=) c.2346C>T (p.Phe782=) c.2946C>T (p.Phe982=) c.3567C>T (p.Phe1189=) c.1761C>T (p.Phe587=) | |
2 | g.237371850G>C | CA351196698 | COL6A3 | c.3549C>G (p.Phe1183Leu) c.4167C>G (p.Phe1389Leu) c.2346C>G (p.Phe782Leu) c.2946C>G (p.Phe982Leu) c.3567C>G (p.Phe1189Leu) c.1761C>G (p.Phe587Leu) | |
2 | g.237371850G>T | CA351196701 | COL6A3 | c.3549C>A (p.Phe1183Leu) c.4167C>A (p.Phe1389Leu) c.2346C>A (p.Phe782Leu) c.2946C>A (p.Phe982Leu) c.3567C>A (p.Phe1189Leu) c.1761C>A (p.Phe587Leu) | gnomAD v4 |
2 | g.237371850_237371855del | CA1043809537 | COL6A3 | c.3544_3549del (p.Val1182_Phe1183del) c.4162_4167del (p.Val1388_Phe1389del) c.2341_2346del (p.Val781_Phe782del) c.2941_2946del (p.Val981_Phe982del) c.3562_3567del (p.Val1188_Phe1189del) c.1756_1761del (p.Val586_Phe587del) | gnomAD v3 gnomAD v4 |
2 | g.237371851A>C | CA351196707 | COL6A3 | c.3548T>G (p.Phe1183Cys) c.4166T>G (p.Phe1389Cys) c.2345T>G (p.Phe782Cys) c.2945T>G (p.Phe982Cys) c.3566T>G (p.Phe1189Cys) c.1760T>G (p.Phe587Cys) | |
2 | g.237371851A>G | CA351196705 | COL6A3 | c.3548T>C (p.Phe1183Ser) c.4166T>C (p.Phe1389Ser) c.2345T>C (p.Phe782Ser) c.2945T>C (p.Phe982Ser) c.3566T>C (p.Phe1189Ser) c.1760T>C (p.Phe587Ser) | |
2 | g.237371851A>T | CA351196703 | COL6A3 | c.3548T>A (p.Phe1183Tyr) c.4166T>A (p.Phe1389Tyr) c.2345T>A (p.Phe782Tyr) c.2945T>A (p.Phe982Tyr) c.3566T>A (p.Phe1189Tyr) c.1760T>A (p.Phe587Tyr) | |
2 | g.237371852A>C | CA351196709 | COL6A3 | c.3547T>G (p.Phe1183Val) c.4165T>G (p.Phe1389Val) c.2344T>G (p.Phe782Val) c.2944T>G (p.Phe982Val) c.3565T>G (p.Phe1189Val) c.1759T>G (p.Phe587Val) | |
2 | g.237371852A>G | CA351196711 | COL6A3 | c.3547T>C (p.Phe1183Leu) c.4165T>C (p.Phe1389Leu) c.2344T>C (p.Phe782Leu) c.2944T>C (p.Phe982Leu) c.3565T>C (p.Phe1189Leu) c.1759T>C (p.Phe587Leu) | |
2 | g.237371852A>T | CA351196713 | COL6A3 | c.3547T>A (p.Phe1183Ile) c.4165T>A (p.Phe1389Ile) c.2344T>A (p.Phe782Ile) c.2944T>A (p.Phe982Ile) c.3565T>A (p.Phe1189Ile) c.1759T>A (p.Phe587Ile) | gnomAD v3 gnomAD v4 |
2 | g.237371853C>A | CA431711222 | COL6A3 | c.3546G>T (p.Val1182=) c.4164G>T (p.Val1388=) c.2343G>T (p.Val781=) c.2943G>T (p.Val981=) c.3564G>T (p.Val1188=) c.1758G>T (p.Val586=) | |
2 | g.237371853C>G | CA431711219 | COL6A3 | c.3546G>C (p.Val1182=) c.4164G>C (p.Val1388=) c.2343G>C (p.Val781=) c.2943G>C (p.Val981=) c.3564G>C (p.Val1188=) c.1758G>C (p.Val586=) | |
2 | g.237371853C>T | CA431711220 | COL6A3 | c.3546G>A (p.Val1182=) c.4164G>A (p.Val1388=) c.2343G>A (p.Val781=) c.2943G>A (p.Val981=) c.3564G>A (p.Val1188=) c.1758G>A (p.Val586=) | ClinVar gnomAD v4 |
2 | g.237371854A= | CA1337623181 | COL6A3 | c.3545T= (p.Val1182=) c.4163T= (p.Val1388=) c.2342T= (p.Val781=) c.2942T= (p.Val981=) c.3563T= (p.Val1188=) c.1757T= (p.Val586=) | |
2 | g.237371854A>C | CA351196716 | COL6A3 | c.3545T>G (p.Val1182Gly) c.4163T>G (p.Val1388Gly) c.2342T>G (p.Val781Gly) c.2942T>G (p.Val981Gly) c.3563T>G (p.Val1188Gly) c.1757T>G (p.Val586Gly) | |
2 | g.237371854A>G | CA67818729 | COL6A3 | c.3545T>C (p.Val1182Ala) c.4163T>C (p.Val1388Ala) c.2342T>C (p.Val781Ala) c.2942T>C (p.Val981Ala) c.3563T>C (p.Val1188Ala) c.1757T>C (p.Val586Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371854A>T | CA351196718 | COL6A3 | c.3545T>A (p.Val1182Glu) c.4163T>A (p.Val1388Glu) c.2342T>A (p.Val781Glu) c.2942T>A (p.Val981Glu) c.3563T>A (p.Val1188Glu) c.1757T>A (p.Val586Glu) | |
2 | g.237371855C>A | CA351196726 | COL6A3 | c.3544G>T (p.Val1182Leu) c.4162G>T (p.Val1388Leu) c.2341G>T (p.Val781Leu) c.2941G>T (p.Val981Leu) c.3562G>T (p.Val1188Leu) c.1756G>T (p.Val586Leu) | |
2 | g.237371855C= | CA1337623182 | COL6A3 | c.3544G= (p.Val1182=) c.4162G= (p.Val1388=) c.2341G= (p.Val781=) c.2941G= (p.Val981=) c.3562G= (p.Val1188=) c.1756G= (p.Val586=) | |
2 | g.237371855C>G | CA351196721 | COL6A3 | c.3544G>C (p.Val1182Leu) c.4162G>C (p.Val1388Leu) c.2341G>C (p.Val781Leu) c.2941G>C (p.Val981Leu) c.3562G>C (p.Val1188Leu) c.1756G>C (p.Val586Leu) | |
2 | g.237371855C>T | CA351196724 | COL6A3 | c.3544G>A (p.Val1182Met) c.4162G>A (p.Val1388Met) c.2341G>A (p.Val781Met) c.2941G>A (p.Val981Met) c.3562G>A (p.Val1188Met) c.1756G>A (p.Val586Met) | ClinVar dbSNP gnomAD v4 |
2 | g.237371856A>C | CA351196728 | COL6A3 | c.3543T>G (p.Tyr1181Ter) c.4161T>G (p.Tyr1387Ter) c.2340T>G (p.Tyr780Ter) c.2940T>G (p.Tyr980Ter) c.3561T>G (p.Tyr1187Ter) c.1755T>G (p.Tyr585Ter) | |
2 | g.237371856A>G | CA431711225 | COL6A3 | c.3543T>C (p.Tyr1181=) c.4161T>C (p.Tyr1387=) c.2340T>C (p.Tyr780=) c.2940T>C (p.Tyr980=) c.3561T>C (p.Tyr1187=) c.1755T>C (p.Tyr585=) | gnomAD v4 |
2 | g.237371856A>T | CA351196730 | COL6A3 | c.3543T>A (p.Tyr1181Ter) c.4161T>A (p.Tyr1387Ter) c.2340T>A (p.Tyr780Ter) c.2940T>A (p.Tyr980Ter) c.3561T>A (p.Tyr1187Ter) c.1755T>A (p.Tyr585Ter) | gnomAD v3 gnomAD v4 |
2 | g.237371857T>A | CA351196732 | COL6A3 | c.3542A>T (p.Tyr1181Phe) c.4160A>T (p.Tyr1387Phe) c.2339A>T (p.Tyr780Phe) c.2939A>T (p.Tyr980Phe) c.3560A>T (p.Tyr1187Phe) c.1754A>T (p.Tyr585Phe) | |
2 | g.237371857T>C | CA2188983 | COL6A3 | c.3542A>G (p.Tyr1181Cys) c.4160A>G (p.Tyr1387Cys) c.2339A>G (p.Tyr780Cys) c.2939A>G (p.Tyr980Cys) c.3560A>G (p.Tyr1187Cys) c.1754A>G (p.Tyr585Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237371857T>G | CA351196735 | COL6A3 | c.3542A>C (p.Tyr1181Ser) c.4160A>C (p.Tyr1387Ser) c.2339A>C (p.Tyr780Ser) c.2939A>C (p.Tyr980Ser) c.3560A>C (p.Tyr1187Ser) c.1754A>C (p.Tyr585Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371857T= | CA1337623183 | COL6A3 | c.3542A= (p.Tyr1181=) c.4160A= (p.Tyr1387=) c.2339A= (p.Tyr780=) c.2939A= (p.Tyr980=) c.3560A= (p.Tyr1187=) c.1754A= (p.Tyr585=) | |
2 | g.237371857_237371858insG | CA1043809547 | COL6A3 | c.3541_3542insC (p.Tyr1181SerfsTer?) c.4159_4160insC (p.Tyr1387SerfsTer?) c.2338_2339insC (p.Tyr780SerfsTer?) c.2938_2939insC (p.Tyr980SerfsTer?) c.3559_3560insC (p.Tyr1187SerfsTer?) c.1753_1754insC (p.Tyr585SerfsTer?) | gnomAD v3 gnomAD v4 |
2 | g.237371858A>C | CA351196738 | COL6A3 | c.3541T>G (p.Tyr1181Asp) c.4159T>G (p.Tyr1387Asp) c.2338T>G (p.Tyr780Asp) c.2938T>G (p.Tyr980Asp) c.3559T>G (p.Tyr1187Asp) c.1753T>G (p.Tyr585Asp) | |
2 | g.237371858A>G | CA351196742 | COL6A3 | c.3541T>C (p.Tyr1181His) c.4159T>C (p.Tyr1387His) c.2338T>C (p.Tyr780His) c.2938T>C (p.Tyr980His) c.3559T>C (p.Tyr1187His) c.1753T>C (p.Tyr585His) | |
2 | g.237371858A>T | CA351196740 | COL6A3 | c.3541T>A (p.Tyr1181Asn) c.4159T>A (p.Tyr1387Asn) c.2338T>A (p.Tyr780Asn) c.2938T>A (p.Tyr980Asn) c.3559T>A (p.Tyr1187Asn) c.1753T>A (p.Tyr585Asn) | |
2 | g.237371858_237371860delinsATT | CA1337623184 | COL6A3 | c.3539_3541delinsAAT (p.Glu1180=) c.4157_4159delinsAAT (p.Glu1386=) c.2336_2338delinsAAT (p.Glu779=) c.2936_2938delinsAAT (p.Glu979=) c.3557_3559delinsAAT (p.Glu1186=) c.1751_1753delinsAAT (p.Glu584=) | |
2 | g.237371859T>A | CA351196745 | COL6A3 | c.3540A>T (p.Glu1180Asp) c.4158A>T (p.Glu1386Asp) c.2337A>T (p.Glu779Asp) c.2937A>T (p.Glu979Asp) c.3558A>T (p.Glu1186Asp) c.1752A>T (p.Glu584Asp) | |
2 | g.237371859T>C | CA431711228 | COL6A3 | c.3540A>G (p.Glu1180=) c.4158A>G (p.Glu1386=) c.2337A>G (p.Glu779=) c.2937A>G (p.Glu979=) c.3558A>G (p.Glu1186=) c.1752A>G (p.Glu584=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371859T>G | CA351196747 | COL6A3 | c.3540A>C (p.Glu1180Asp) c.4158A>C (p.Glu1386Asp) c.2337A>C (p.Glu779Asp) c.2937A>C (p.Glu979Asp) c.3558A>C (p.Glu1186Asp) c.1752A>C (p.Glu584Asp) | |
2 | g.237371859T= | CA1337623185 | COL6A3 | c.3540A= (p.Glu1180=) c.4158A= (p.Glu1386=) c.2337A= (p.Glu779=) c.2937A= (p.Glu979=) c.3558A= (p.Glu1186=) c.1752A= (p.Glu584=) | |
2 | g.237371859_237371860del | CA540749834 | COL6A3 | c.3539_3540del (p.Glu1180ValfsTer?) c.4157_4158del (p.Glu1386ValfsTer?) c.2336_2337del (p.Glu779ValfsTer?) c.2936_2937del (p.Glu979ValfsTer?) c.3557_3558del (p.Glu1186ValfsTer?) c.1751_1752del (p.Glu584ValfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371860T>A | CA351196749 | COL6A3 | c.3539A>T (p.Glu1180Val) c.4157A>T (p.Glu1386Val) c.2336A>T (p.Glu779Val) c.2936A>T (p.Glu979Val) c.3557A>T (p.Glu1186Val) c.1751A>T (p.Glu584Val) | |
2 | g.237371860T>C | CA351196750 | COL6A3 | c.3539A>G (p.Glu1180Gly) c.4157A>G (p.Glu1386Gly) c.2336A>G (p.Glu779Gly) c.2936A>G (p.Glu979Gly) c.3557A>G (p.Glu1186Gly) c.1751A>G (p.Glu584Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371860T>G | CA351196752 | COL6A3 | c.3539A>C (p.Glu1180Ala) c.4157A>C (p.Glu1386Ala) c.2336A>C (p.Glu779Ala) c.2936A>C (p.Glu979Ala) c.3557A>C (p.Glu1186Ala) c.1751A>C (p.Glu584Ala) | gnomAD v4 |
2 | g.237371860T= | CA1337623186 | COL6A3 | c.3539A= (p.Glu1180=) c.4157A= (p.Glu1386=) c.2336A= (p.Glu779=) c.2936A= (p.Glu979=) c.3557A= (p.Glu1186=) c.1751A= (p.Glu584=) | |
2 | g.237371861C>A | CA351196755 | COL6A3 | c.3538G>T (p.Glu1180Ter) c.4156G>T (p.Glu1386Ter) c.2335G>T (p.Glu779Ter) c.2935G>T (p.Glu979Ter) c.3556G>T (p.Glu1186Ter) c.1750G>T (p.Glu584Ter) | |
2 | g.237371861C= | CA1337623187 | COL6A3 | c.3538G= (p.Glu1180=) c.4156G= (p.Glu1386=) c.2335G= (p.Glu779=) c.2935G= (p.Glu979=) c.3556G= (p.Glu1186=) c.1750G= (p.Glu584=) | |
2 | g.237371861C>G | CA351196756 | COL6A3 | c.3538G>C (p.Glu1180Gln) c.4156G>C (p.Glu1386Gln) c.2335G>C (p.Glu779Gln) c.2935G>C (p.Glu979Gln) c.3556G>C (p.Glu1186Gln) c.1750G>C (p.Glu584Gln) | |
2 | g.237371861C>T | CA203744 | COL6A3 | c.3538G>A (p.Glu1180Lys) c.4156G>A (p.Glu1386Lys) c.2335G>A (p.Glu779Lys) c.2935G>A (p.Glu979Lys) c.3556G>A (p.Glu1186Lys) c.1750G>A (p.Glu584Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371862G>A | CA2188984 | COL6A3 | c.3537C>T (p.Pro1179=) c.4155C>T (p.Pro1385=) c.2334C>T (p.Pro778=) c.2934C>T (p.Pro978=) c.3555C>T (p.Pro1185=) c.1749C>T (p.Pro583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237371862G>C | CA431711230 | COL6A3 | c.3537C>G (p.Pro1179=) c.4155C>G (p.Pro1385=) c.2334C>G (p.Pro778=) c.2934C>G (p.Pro978=) c.3555C>G (p.Pro1185=) c.1749C>G (p.Pro583=) | |
2 | g.237371862G= | CA1337623188 | COL6A3 | c.3537C= (p.Pro1179=) c.4155C= (p.Pro1385=) c.2334C= (p.Pro778=) c.2934C= (p.Pro978=) c.3555C= (p.Pro1185=) c.1749C= (p.Pro583=) | |
2 | g.237371862G>T | CA431711229 | COL6A3 | c.3537C>A (p.Pro1179=) c.4155C>A (p.Pro1385=) c.2334C>A (p.Pro778=) c.2934C>A (p.Pro978=) c.3555C>A (p.Pro1185=) c.1749C>A (p.Pro583=) | |
2 | g.237371865dup | CA2840562926 | COL6A3 | c.3537dup (p.Glu1180ArgfsTer?) c.4155dup (p.Glu1386ArgfsTer?) c.2334dup (p.Glu779ArgfsTer?) c.2934dup (p.Glu979ArgfsTer?) c.3555dup (p.Glu1186ArgfsTer?) c.1749dup (p.Glu584ArgfsTer?) | |
2 | g.237371865del | CA2663798957 | COL6A3 | c.3537del (p.Glu1180AsnfsTer6) c.4155del (p.Glu1386AsnfsTer6) c.2334del (p.Glu779AsnfsTer6) c.2934del (p.Glu979AsnfsTer6) c.3555del (p.Glu1186AsnfsTer6) c.1749del (p.Glu584AsnfsTer6) | gnomAD v4 |
2 | g.237371863G>A | CA351196761 | COL6A3 | c.3536C>T (p.Pro1179Leu) c.4154C>T (p.Pro1385Leu) c.2333C>T (p.Pro778Leu) c.2933C>T (p.Pro978Leu) c.3554C>T (p.Pro1185Leu) c.1748C>T (p.Pro583Leu) | COSMIC COSMIC |
2 | g.237371863G>C | CA351196762 | COL6A3 | c.3536C>G (p.Pro1179Arg) c.4154C>G (p.Pro1385Arg) c.2333C>G (p.Pro778Arg) c.2933C>G (p.Pro978Arg) c.3554C>G (p.Pro1185Arg) c.1748C>G (p.Pro583Arg) | |
2 | g.237371863G>T | CA351196763 | COL6A3 | c.3536C>A (p.Pro1179His) c.4154C>A (p.Pro1385His) c.2333C>A (p.Pro778His) c.2933C>A (p.Pro978His) c.3554C>A (p.Pro1185His) c.1748C>A (p.Pro583His) | |
2 | g.237371864G>A | CA351196768 | COL6A3 | c.3535C>T (p.Pro1179Ser) c.4153C>T (p.Pro1385Ser) c.2332C>T (p.Pro778Ser) c.2932C>T (p.Pro978Ser) c.3553C>T (p.Pro1185Ser) c.1747C>T (p.Pro583Ser) | dbSNP gnomAD v4 |
2 | g.237371864G>C | CA351196770 | COL6A3 | c.3535C>G (p.Pro1179Ala) c.4153C>G (p.Pro1385Ala) c.2332C>G (p.Pro778Ala) c.2932C>G (p.Pro978Ala) c.3553C>G (p.Pro1185Ala) c.1747C>G (p.Pro583Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371864G= | CA1337623189 | COL6A3 | c.3535C= (p.Pro1179=) c.4153C= (p.Pro1385=) c.2332C= (p.Pro778=) c.2932C= (p.Pro978=) c.3553C= (p.Pro1185=) c.1747C= (p.Pro583=) | |
2 | g.237371864G>T | CA351196767 | COL6A3 | c.3535C>A (p.Pro1179Thr) c.4153C>A (p.Pro1385Thr) c.2332C>A (p.Pro778Thr) c.2932C>A (p.Pro978Thr) c.3553C>A (p.Pro1185Thr) c.1747C>A (p.Pro583Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371865G>A | CA431711231 | COL6A3 | c.3534C>T (p.Ser1178=) c.4152C>T (p.Ser1384=) c.2331C>T (p.Ser777=) c.2931C>T (p.Ser977=) c.3552C>T (p.Ser1184=) c.1746C>T (p.Ser582=) | ClinVar dbSNP |
2 | g.237371865G>C | CA351196774 | COL6A3 | c.3534C>G (p.Ser1178Arg) c.4152C>G (p.Ser1384Arg) c.2331C>G (p.Ser777Arg) c.2931C>G (p.Ser977Arg) c.3552C>G (p.Ser1184Arg) c.1746C>G (p.Ser582Arg) | |
2 | g.237371865G= | CA1337623190 | COL6A3 | c.3534C= (p.Ser1178=) c.4152C= (p.Ser1384=) c.2331C= (p.Ser777=) c.2931C= (p.Ser977=) c.3552C= (p.Ser1184=) c.1746C= (p.Ser582=) | |
2 | g.237371865G>T | CA351196773 | COL6A3 | c.3534C>A (p.Ser1178Arg) c.4152C>A (p.Ser1384Arg) c.2331C>A (p.Ser777Arg) c.2931C>A (p.Ser977Arg) c.3552C>A (p.Ser1184Arg) c.1746C>A (p.Ser582Arg) | |
2 | g.237371866C>A | CA351196781 | COL6A3 | c.3533G>T (p.Ser1178Ile) c.4151G>T (p.Ser1384Ile) c.2330G>T (p.Ser777Ile) c.2930G>T (p.Ser977Ile) c.3551G>T (p.Ser1184Ile) c.1745G>T (p.Ser582Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371866C= | CA1337623191 | COL6A3 | c.3533G= (p.Ser1178=) c.4151G= (p.Ser1384=) c.2330G= (p.Ser777=) c.2930G= (p.Ser977=) c.3551G= (p.Ser1184=) c.1745G= (p.Ser582=) | |
2 | g.237371866C>G | CA351196777 | COL6A3 | c.3533G>C (p.Ser1178Thr) c.4151G>C (p.Ser1384Thr) c.2330G>C (p.Ser777Thr) c.2930G>C (p.Ser977Thr) c.3551G>C (p.Ser1184Thr) c.1745G>C (p.Ser582Thr) | |
2 | g.237371866C>T | CA351196779 | COL6A3 | c.3533G>A (p.Ser1178Asn) c.4151G>A (p.Ser1384Asn) c.2330G>A (p.Ser777Asn) c.2930G>A (p.Ser977Asn) c.3551G>A (p.Ser1184Asn) c.1745G>A (p.Ser582Asn) | |
2 | g.237371867T>A | CA351196784 | COL6A3 | c.3532A>T (p.Ser1178Cys) c.4150A>T (p.Ser1384Cys) c.2329A>T (p.Ser777Cys) c.2929A>T (p.Ser977Cys) c.3550A>T (p.Ser1184Cys) c.1744A>T (p.Ser582Cys) | |
2 | g.237371867T>C | CA351196786 | COL6A3 | c.3532A>G (p.Ser1178Gly) c.4150A>G (p.Ser1384Gly) c.2329A>G (p.Ser777Gly) c.2929A>G (p.Ser977Gly) c.3550A>G (p.Ser1184Gly) c.1744A>G (p.Ser582Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371867T>G | CA351196788 | COL6A3 | c.3532A>C (p.Ser1178Arg) c.4150A>C (p.Ser1384Arg) c.2329A>C (p.Ser777Arg) c.2929A>C (p.Ser977Arg) c.3550A>C (p.Ser1184Arg) c.1744A>C (p.Ser582Arg) | |
2 | g.237371867T= | CA1337623192 | COL6A3 | c.3532A= (p.Ser1178=) c.4150A= (p.Ser1384=) c.2329A= (p.Ser777=) c.2929A= (p.Ser977=) c.3550A= (p.Ser1184=) c.1744A= (p.Ser582=) | |
2 | g.237371868C>A | CA431711234 | COL6A3 | c.3531G>T (p.Leu1177=) c.4149G>T (p.Leu1383=) c.2328G>T (p.Leu776=) c.2928G>T (p.Leu976=) c.3549G>T (p.Leu1183=) c.1743G>T (p.Leu581=) | |
2 | g.237371868C= | CA1337623193 | COL6A3 | c.3531G= (p.Leu1177=) c.4149G= (p.Leu1383=) c.2328G= (p.Leu776=) c.2928G= (p.Leu976=) c.3549G= (p.Leu1183=) c.1743G= (p.Leu581=) | |
2 | g.237371868C>G | CA431711235 | COL6A3 | c.3531G>C (p.Leu1177=) c.4149G>C (p.Leu1383=) c.2328G>C (p.Leu776=) c.2928G>C (p.Leu976=) c.3549G>C (p.Leu1183=) c.1743G>C (p.Leu581=) | |
2 | g.237371868C>T | CA431711236 | COL6A3 | c.3531G>A (p.Leu1177=) c.4149G>A (p.Leu1383=) c.2328G>A (p.Leu776=) c.2928G>A (p.Leu976=) c.3549G>A (p.Leu1183=) c.1743G>A (p.Leu581=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371869A>C | CA351196791 | COL6A3 | c.3530T>G (p.Leu1177Arg) c.4148T>G (p.Leu1383Arg) c.2327T>G (p.Leu776Arg) c.2927T>G (p.Leu976Arg) c.3548T>G (p.Leu1183Arg) c.1742T>G (p.Leu581Arg) | |
2 | g.237371869A>G | CA351196793 | COL6A3 | c.3530T>C (p.Leu1177Pro) c.4148T>C (p.Leu1383Pro) c.2327T>C (p.Leu776Pro) c.2927T>C (p.Leu976Pro) c.3548T>C (p.Leu1183Pro) c.1742T>C (p.Leu581Pro) | |
2 | g.237371869A>T | CA351196794 | COL6A3 | c.3530T>A (p.Leu1177Gln) c.4148T>A (p.Leu1383Gln) c.2327T>A (p.Leu776Gln) c.2927T>A (p.Leu976Gln) c.3548T>A (p.Leu1183Gln) c.1742T>A (p.Leu581Gln) | |
2 | g.237371870G>A | CA431711237 | COL6A3 | c.3529C>T (p.Leu1177=) c.4147C>T (p.Leu1383=) c.2326C>T (p.Leu776=) c.2926C>T (p.Leu976=) c.3547C>T (p.Leu1183=) c.1741C>T (p.Leu581=) | |
2 | g.237371870G>C | CA351196796 | COL6A3 | c.3529C>G (p.Leu1177Val) c.4147C>G (p.Leu1383Val) c.2326C>G (p.Leu776Val) c.2926C>G (p.Leu976Val) c.3547C>G (p.Leu1183Val) c.1741C>G (p.Leu581Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371870G= | CA1337623194 | COL6A3 | c.3529C= (p.Leu1177=) c.4147C= (p.Leu1383=) c.2326C= (p.Leu776=) c.2926C= (p.Leu976=) c.3547C= (p.Leu1183=) c.1741C= (p.Leu581=) | |
2 | g.237371870G>T | CA351196797 | COL6A3 | c.3529C>A (p.Leu1177Met) c.4147C>A (p.Leu1383Met) c.2326C>A (p.Leu776Met) c.2926C>A (p.Leu976Met) c.3547C>A (p.Leu1183Met) c.1741C>A (p.Leu581Met) | |
2 | g.237371871C>A | CA431711238 | COL6A3 | c.3528G>T (p.Ser1176=) c.4146G>T (p.Ser1382=) c.2325G>T (p.Ser775=) c.2925G>T (p.Ser975=) c.3546G>T (p.Ser1182=) c.1740G>T (p.Ser580=) | ClinVar dbSNP gnomAD v4 |
2 | g.237371871C= | CA1337623195 | COL6A3 | c.3528G= (p.Ser1176=) c.4146G= (p.Ser1382=) c.2325G= (p.Ser775=) c.2925G= (p.Ser975=) c.3546G= (p.Ser1182=) c.1740G= (p.Ser580=) | |
2 | g.237371871C>G | CA431711239 | COL6A3 | c.3528G>C (p.Ser1176=) c.4146G>C (p.Ser1382=) c.2325G>C (p.Ser775=) c.2925G>C (p.Ser975=) c.3546G>C (p.Ser1182=) c.1740G>C (p.Ser580=) | |
2 | g.237371871C>T | CA2188985 | COL6A3 | c.3528G>A (p.Ser1176=) c.4146G>A (p.Ser1382=) c.2325G>A (p.Ser775=) c.2925G>A (p.Ser975=) c.3546G>A (p.Ser1182=) c.1740G>A (p.Ser580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371872G>A | CA2188986 | COL6A3 | c.3527C>T (p.Ser1176Leu) c.4145C>T (p.Ser1382Leu) c.2324C>T (p.Ser775Leu) c.2924C>T (p.Ser975Leu) c.3545C>T (p.Ser1182Leu) c.1739C>T (p.Ser580Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371872G>C | CA351196802 | COL6A3 | c.3527C>G (p.Ser1176Trp) c.4145C>G (p.Ser1382Trp) c.2324C>G (p.Ser775Trp) c.2924C>G (p.Ser975Trp) c.3545C>G (p.Ser1182Trp) c.1739C>G (p.Ser580Trp) | |
2 | g.237371872G= | CA1337623196 | COL6A3 | c.3527C= (p.Ser1176=) c.4145C= (p.Ser1382=) c.2324C= (p.Ser775=) c.2924C= (p.Ser975=) c.3545C= (p.Ser1182=) c.1739C= (p.Ser580=) | |
2 | g.237371872G>T | CA351196800 | COL6A3 | c.3527C>A (p.Ser1176Ter) c.4145C>A (p.Ser1382Ter) c.2324C>A (p.Ser775Ter) c.2924C>A (p.Ser975Ter) c.3545C>A (p.Ser1182Ter) c.1739C>A (p.Ser580Ter) | |
2 | g.237371873A>C | CA351196805 | COL6A3 | c.3526T>G (p.Ser1176Ala) c.4144T>G (p.Ser1382Ala) c.2323T>G (p.Ser775Ala) c.2923T>G (p.Ser975Ala) c.3544T>G (p.Ser1182Ala) c.1738T>G (p.Ser580Ala) | |
2 | g.237371873A>G | CA351196807 | COL6A3 | c.3526T>C (p.Ser1176Pro) c.4144T>C (p.Ser1382Pro) c.2323T>C (p.Ser775Pro) c.2923T>C (p.Ser975Pro) c.3544T>C (p.Ser1182Pro) c.1738T>C (p.Ser580Pro) | |
2 | g.237371873A>T | CA351196810 | COL6A3 | c.3526T>A (p.Ser1176Thr) c.4144T>A (p.Ser1382Thr) c.2323T>A (p.Ser775Thr) c.2923T>A (p.Ser975Thr) c.3544T>A (p.Ser1182Thr) c.1738T>A (p.Ser580Thr) | |
2 | g.237371874G>A | CA67818765 | COL6A3 | c.3525C>T (p.Ile1175=) c.4143C>T (p.Ile1381=) c.2322C>T (p.Ile774=) c.2922C>T (p.Ile974=) c.3543C>T (p.Ile1181=) c.1737C>T (p.Ile579=) | dbSNP |
2 | g.237371874G>C | CA351196812 | COL6A3 | c.3525C>G (p.Ile1175Met) c.4143C>G (p.Ile1381Met) c.2322C>G (p.Ile774Met) c.2922C>G (p.Ile974Met) c.3543C>G (p.Ile1181Met) c.1737C>G (p.Ile579Met) | |
2 | g.237371874G= | CA1337623197 | COL6A3 | c.3525C= (p.Ile1175=) c.4143C= (p.Ile1381=) c.2322C= (p.Ile774=) c.2922C= (p.Ile974=) c.3543C= (p.Ile1181=) c.1737C= (p.Ile579=) | |
2 | g.237371874G>T | CA431711243 | COL6A3 | c.3525C>A (p.Ile1175=) c.4143C>A (p.Ile1381=) c.2322C>A (p.Ile774=) c.2922C>A (p.Ile974=) c.3543C>A (p.Ile1181=) c.1737C>A (p.Ile579=) | |
2 | g.237371875A>C | CA351196814 | COL6A3 | c.3524T>G (p.Ile1175Ser) c.4142T>G (p.Ile1381Ser) c.2321T>G (p.Ile774Ser) c.2921T>G (p.Ile974Ser) c.3542T>G (p.Ile1181Ser) c.1736T>G (p.Ile579Ser) | |
2 | g.237371875A>G | CA351196816 | COL6A3 | c.3524T>C (p.Ile1175Thr) c.4142T>C (p.Ile1381Thr) c.2321T>C (p.Ile774Thr) c.2921T>C (p.Ile974Thr) c.3542T>C (p.Ile1181Thr) c.1736T>C (p.Ile579Thr) | |
2 | g.237371875A>T | CA351196818 | COL6A3 | c.3524T>A (p.Ile1175Asn) c.4142T>A (p.Ile1381Asn) c.2321T>A (p.Ile774Asn) c.2921T>A (p.Ile974Asn) c.3542T>A (p.Ile1181Asn) c.1736T>A (p.Ile579Asn) | |
2 | g.237371876T>A | CA2188987 | COL6A3 | c.3523A>T (p.Ile1175Phe) c.4141A>T (p.Ile1381Phe) c.2320A>T (p.Ile774Phe) c.2920A>T (p.Ile974Phe) c.3541A>T (p.Ile1181Phe) c.1735A>T (p.Ile579Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371876T>C | CA351196820 | COL6A3 | c.3523A>G (p.Ile1175Val) c.4141A>G (p.Ile1381Val) c.2320A>G (p.Ile774Val) c.2920A>G (p.Ile974Val) c.3541A>G (p.Ile1181Val) c.1735A>G (p.Ile579Val) | |
2 | g.237371876T>G | CA351196822 | COL6A3 | c.3523A>C (p.Ile1175Leu) c.4141A>C (p.Ile1381Leu) c.2320A>C (p.Ile774Leu) c.2920A>C (p.Ile974Leu) c.3541A>C (p.Ile1181Leu) c.1735A>C (p.Ile579Leu) | |
2 | g.237371876T= | CA1337623198 | COL6A3 | c.3523A= (p.Ile1175=) c.4141A= (p.Ile1381=) c.2320A= (p.Ile774=) c.2920A= (p.Ile974=) c.3541A= (p.Ile1181=) c.1735A= (p.Ile579=) | |
2 | g.237371877C>A | CA351196826 | COL6A3 | c.3522G>T (p.Lys1174Asn) c.4140G>T (p.Lys1380Asn) c.2319G>T (p.Lys773Asn) c.2919G>T (p.Lys973Asn) c.3540G>T (p.Lys1180Asn) c.1734G>T (p.Lys578Asn) | |
2 | g.237371877C>G | CA351196827 | COL6A3 | c.3522G>C (p.Lys1174Asn) c.4140G>C (p.Lys1380Asn) c.2319G>C (p.Lys773Asn) c.2919G>C (p.Lys973Asn) c.3540G>C (p.Lys1180Asn) c.1734G>C (p.Lys578Asn) | |
2 | g.237371877C>T | CA431711245 | COL6A3 | c.3522G>A (p.Lys1174=) c.4140G>A (p.Lys1380=) c.2319G>A (p.Lys773=) c.2919G>A (p.Lys973=) c.3540G>A (p.Lys1180=) c.1734G>A (p.Lys578=) | |
2 | g.237371878T>A | CA351196834 | COL6A3 | c.3521A>T (p.Lys1174Met) c.4139A>T (p.Lys1380Met) c.2318A>T (p.Lys773Met) c.2918A>T (p.Lys973Met) c.3539A>T (p.Lys1180Met) c.1733A>T (p.Lys578Met) | |
2 | g.237371878T>C | CA351196832 | COL6A3 | c.3521A>G (p.Lys1174Arg) c.4139A>G (p.Lys1380Arg) c.2318A>G (p.Lys773Arg) c.2918A>G (p.Lys973Arg) c.3539A>G (p.Lys1180Arg) c.1733A>G (p.Lys578Arg) | |
2 | g.237371878T>G | CA351196830 | COL6A3 | c.3521A>C (p.Lys1174Thr) c.4139A>C (p.Lys1380Thr) c.2318A>C (p.Lys773Thr) c.2918A>C (p.Lys973Thr) c.3539A>C (p.Lys1180Thr) c.1733A>C (p.Lys578Thr) | |
2 | g.237371879T>A | CA351196836 | COL6A3 | c.3520A>T (p.Lys1174Ter) c.4138A>T (p.Lys1380Ter) c.2317A>T (p.Lys773Ter) c.2917A>T (p.Lys973Ter) c.3538A>T (p.Lys1180Ter) c.1732A>T (p.Lys578Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371879T>C | CA351196838 | COL6A3 | c.3520A>G (p.Lys1174Glu) c.4138A>G (p.Lys1380Glu) c.2317A>G (p.Lys773Glu) c.2917A>G (p.Lys973Glu) c.3538A>G (p.Lys1180Glu) c.1732A>G (p.Lys578Glu) | gnomAD v4 |
2 | g.237371879T>G | CA351196841 | COL6A3 | c.3520A>C (p.Lys1174Gln) c.4138A>C (p.Lys1380Gln) c.2317A>C (p.Lys773Gln) c.2917A>C (p.Lys973Gln) c.3538A>C (p.Lys1180Gln) c.1732A>C (p.Lys578Gln) | |
2 | g.237371879T= | CA1337623199 | COL6A3 | c.3520A= (p.Lys1174=) c.4138A= (p.Lys1380=) c.2317A= (p.Lys773=) c.2917A= (p.Lys973=) c.3538A= (p.Lys1180=) c.1732A= (p.Lys578=) | |
2 | g.237371880C>A | CA431711246 | COL6A3 | c.3519G>T (p.Val1173=) c.4137G>T (p.Val1379=) c.2316G>T (p.Val772=) c.2916G>T (p.Val972=) c.3537G>T (p.Val1179=) c.1731G>T (p.Val577=) | |
2 | g.237371880C= | CA1337623200 | COL6A3 | c.3519G= (p.Val1173=) c.4137G= (p.Val1379=) c.2316G= (p.Val772=) c.2916G= (p.Val972=) c.3537G= (p.Val1179=) c.1731G= (p.Val577=) | |
2 | g.237371880C>G | CA431711247 | COL6A3 | c.3519G>C (p.Val1173=) c.4137G>C (p.Val1379=) c.2316G>C (p.Val772=) c.2916G>C (p.Val972=) c.3537G>C (p.Val1179=) c.1731G>C (p.Val577=) | |
2 | g.237371880C>T | CA431711248 | COL6A3 | c.3519G>A (p.Val1173=) c.4137G>A (p.Val1379=) c.2316G>A (p.Val772=) c.2916G>A (p.Val972=) c.3537G>A (p.Val1179=) c.1731G>A (p.Val577=) | dbSNP gnomAD v4 |
2 | g.237371881A>C | CA351196843 | COL6A3 | c.3518T>G (p.Val1173Gly) c.4136T>G (p.Val1379Gly) c.2315T>G (p.Val772Gly) c.2915T>G (p.Val972Gly) c.3536T>G (p.Val1179Gly) c.1730T>G (p.Val577Gly) | |
2 | g.237371881A>G | CA351196845 | COL6A3 | c.3518T>C (p.Val1173Ala) c.4136T>C (p.Val1379Ala) c.2315T>C (p.Val772Ala) c.2915T>C (p.Val972Ala) c.3536T>C (p.Val1179Ala) c.1730T>C (p.Val577Ala) | |
2 | g.237371881A>T | CA351196847 | COL6A3 | c.3518T>A (p.Val1173Glu) c.4136T>A (p.Val1379Glu) c.2315T>A (p.Val772Glu) c.2915T>A (p.Val972Glu) c.3536T>A (p.Val1179Glu) c.1730T>A (p.Val577Glu) | |
2 | g.237371882C>A | CA351196849 | COL6A3 | c.3517G>T (p.Val1173Leu) c.4135G>T (p.Val1379Leu) c.2314G>T (p.Val772Leu) c.2914G>T (p.Val972Leu) c.3535G>T (p.Val1179Leu) c.1729G>T (p.Val577Leu) | |
2 | g.237371882C= | CA1337623201 | COL6A3 | c.3517G= (p.Val1173=) c.4135G= (p.Val1379=) c.2314G= (p.Val772=) c.2914G= (p.Val972=) c.3535G= (p.Val1179=) c.1729G= (p.Val577=) | |
2 | g.237371882C>G | CA351196851 | COL6A3 | c.3517G>C (p.Val1173Leu) c.4135G>C (p.Val1379Leu) c.2314G>C (p.Val772Leu) c.2914G>C (p.Val972Leu) c.3535G>C (p.Val1179Leu) c.1729G>C (p.Val577Leu) | |
2 | g.237371882C>T | CA351196852 | COL6A3 | c.3517G>A (p.Val1173Met) c.4135G>A (p.Val1379Met) c.2314G>A (p.Val772Met) c.2914G>A (p.Val972Met) c.3535G>A (p.Val1179Met) c.1729G>A (p.Val577Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371883dup | CA2840562927 | COL6A3 | c.3517dup (p.Val1173GlyfsTer?) c.4135dup (p.Val1379GlyfsTer?) c.2314dup (p.Val772GlyfsTer?) c.2914dup (p.Val972GlyfsTer?) c.3535dup (p.Val1179GlyfsTer?) c.1729dup (p.Val577GlyfsTer?) | |
2 | g.237371883C>A | CA2188988 | COL6A3 | c.3516G>T (p.Leu1172=) c.4134G>T (p.Leu1378=) c.2313G>T (p.Leu771=) c.2913G>T (p.Leu971=) c.3534G>T (p.Leu1178=) c.1728G>T (p.Leu576=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237371883C= | CA1337623202 | COL6A3 | c.3516G= (p.Leu1172=) c.4134G= (p.Leu1378=) c.2313G= (p.Leu771=) c.2913G= (p.Leu971=) c.3534G= (p.Leu1178=) c.1728G= (p.Leu576=) | |
2 | g.237371883C>G | CA431711250 | COL6A3 | c.3516G>C (p.Leu1172=) c.4134G>C (p.Leu1378=) c.2313G>C (p.Leu771=) c.2913G>C (p.Leu971=) c.3534G>C (p.Leu1178=) c.1728G>C (p.Leu576=) | |
2 | g.237371883C>T | CA431711251 | COL6A3 | c.3516G>A (p.Leu1172=) c.4134G>A (p.Leu1378=) c.2313G>A (p.Leu771=) c.2913G>A (p.Leu971=) c.3534G>A (p.Leu1178=) c.1728G>A (p.Leu576=) | |
2 | g.237371884A>C | CA351196854 | COL6A3 | c.3515T>G (p.Leu1172Arg) c.4133T>G (p.Leu1378Arg) c.2312T>G (p.Leu771Arg) c.2912T>G (p.Leu971Arg) c.3533T>G (p.Leu1178Arg) c.1727T>G (p.Leu576Arg) | |
2 | g.237371884A>G | CA351196856 | COL6A3 | c.3515T>C (p.Leu1172Pro) c.4133T>C (p.Leu1378Pro) c.2312T>C (p.Leu771Pro) c.2912T>C (p.Leu971Pro) c.3533T>C (p.Leu1178Pro) c.1727T>C (p.Leu576Pro) | |
2 | g.237371884A>T | CA351196858 | COL6A3 | c.3515T>A (p.Leu1172Gln) c.4133T>A (p.Leu1378Gln) c.2312T>A (p.Leu771Gln) c.2912T>A (p.Leu971Gln) c.3533T>A (p.Leu1178Gln) c.1727T>A (p.Leu576Gln) | |
2 | g.237371885G>A | CA431711252 | COL6A3 | c.3514C>T (p.Leu1172=) c.4132C>T (p.Leu1378=) c.2311C>T (p.Leu771=) c.2911C>T (p.Leu971=) c.3532C>T (p.Leu1178=) c.1726C>T (p.Leu576=) | gnomAD v4 COSMIC COSMIC |
2 | g.237371885G>C | CA351196865 | COL6A3 | c.3514C>G (p.Leu1172Val) c.4132C>G (p.Leu1378Val) c.2311C>G (p.Leu771Val) c.2911C>G (p.Leu971Val) c.3532C>G (p.Leu1178Val) c.1726C>G (p.Leu576Val) | |
2 | g.237371885G>T | CA351196861 | COL6A3 | c.3514C>A (p.Leu1172Met) c.4132C>A (p.Leu1378Met) c.2311C>A (p.Leu771Met) c.2911C>A (p.Leu971Met) c.3532C>A (p.Leu1178Met) c.1726C>A (p.Leu576Met) | |
2 | g.237371886C>A | CA351196868 | COL6A3 | c.3513G>T (p.Glu1171Asp) c.4131G>T (p.Glu1377Asp) c.2310G>T (p.Glu770Asp) c.2910G>T (p.Glu970Asp) c.3531G>T (p.Glu1177Asp) c.1725G>T (p.Glu575Asp) | |
2 | g.237371886C= | CA1337623203 | COL6A3 | c.3513G= (p.Glu1171=) c.4131G= (p.Glu1377=) c.2310G= (p.Glu770=) c.2910G= (p.Glu970=) c.3531G= (p.Glu1177=) c.1725G= (p.Glu575=) | |
2 | g.237371886C>G | CA351196870 | COL6A3 | c.3513G>C (p.Glu1171Asp) c.4131G>C (p.Glu1377Asp) c.2310G>C (p.Glu770Asp) c.2910G>C (p.Glu970Asp) c.3531G>C (p.Glu1177Asp) c.1725G>C (p.Glu575Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371886C>T | CA431711254 | COL6A3 | c.3513G>A (p.Glu1171=) c.4131G>A (p.Glu1377=) c.2310G>A (p.Glu770=) c.2910G>A (p.Glu970=) c.3531G>A (p.Glu1177=) c.1725G>A (p.Glu575=) | |
2 | g.237371887T>A | CA351196873 | COL6A3 | c.3512A>T (p.Glu1171Val) c.4130A>T (p.Glu1377Val) c.2309A>T (p.Glu770Val) c.2909A>T (p.Glu970Val) c.3530A>T (p.Glu1177Val) c.1724A>T (p.Glu575Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371887T>C | CA351196874 | COL6A3 | c.3512A>G (p.Glu1171Gly) c.4130A>G (p.Glu1377Gly) c.2309A>G (p.Glu770Gly) c.2909A>G (p.Glu970Gly) c.3530A>G (p.Glu1177Gly) c.1724A>G (p.Glu575Gly) | |
2 | g.237371887T>G | CA351196876 | COL6A3 | c.3512A>C (p.Glu1171Ala) c.4130A>C (p.Glu1377Ala) c.2309A>C (p.Glu770Ala) c.2909A>C (p.Glu970Ala) c.3530A>C (p.Glu1177Ala) c.1724A>C (p.Glu575Ala) | |
2 | g.237371887T= | CA1337623204 | COL6A3 | c.3512A= (p.Glu1171=) c.4130A= (p.Glu1377=) c.2309A= (p.Glu770=) c.2909A= (p.Glu970=) c.3530A= (p.Glu1177=) c.1724A= (p.Glu575=) | |
2 | g.237371888C>A | CA351196879 | COL6A3 | c.3511G>T (p.Glu1171Ter) c.4129G>T (p.Glu1377Ter) c.2308G>T (p.Glu770Ter) c.2908G>T (p.Glu970Ter) c.3529G>T (p.Glu1177Ter) c.1723G>T (p.Glu575Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371888C= | CA1337623205 | COL6A3 | c.3511G= (p.Glu1171=) c.4129G= (p.Glu1377=) c.2308G= (p.Glu770=) c.2908G= (p.Glu970=) c.3529G= (p.Glu1177=) c.1723G= (p.Glu575=) | |
2 | g.237371888C>G | CA351196881 | COL6A3 | c.3511G>C (p.Glu1171Gln) c.4129G>C (p.Glu1377Gln) c.2308G>C (p.Glu770Gln) c.2908G>C (p.Glu970Gln) c.3529G>C (p.Glu1177Gln) c.1723G>C (p.Glu575Gln) | |
2 | g.237371888C>T | CA351196883 | COL6A3 | c.3511G>A (p.Glu1171Lys) c.4129G>A (p.Glu1377Lys) c.2308G>A (p.Glu770Lys) c.2908G>A (p.Glu970Lys) c.3529G>A (p.Glu1177Lys) c.1723G>A (p.Glu575Lys) | COSMIC COSMIC |
2 | g.237371889C>A | CA351196886 | COL6A3 | c.3510G>T (p.Glu1170Asp) c.4128G>T (p.Glu1376Asp) c.2307G>T (p.Glu769Asp) c.2907G>T (p.Glu969Asp) c.3528G>T (p.Glu1176Asp) c.1722G>T (p.Glu574Asp) | |
2 | g.237371889C= | CA1337623206 | COL6A3 | c.3510G= (p.Glu1170=) c.4128G= (p.Glu1376=) c.2307G= (p.Glu769=) c.2907G= (p.Glu969=) c.3528G= (p.Glu1176=) c.1722G= (p.Glu574=) | |
2 | g.237371889C>G | CA351196888 | COL6A3 | c.3510G>C (p.Glu1170Asp) c.4128G>C (p.Glu1376Asp) c.2307G>C (p.Glu769Asp) c.2907G>C (p.Glu969Asp) c.3528G>C (p.Glu1176Asp) c.1722G>C (p.Glu574Asp) | |
2 | g.237371889C>T | CA431711257 | COL6A3 | c.3510G>A (p.Glu1170=) c.4128G>A (p.Glu1376=) c.2307G>A (p.Glu769=) c.2907G>A (p.Glu969=) c.3528G>A (p.Glu1176=) c.1722G>A (p.Glu574=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371890T>A | CA351196889 | COL6A3 | c.3509A>T (p.Glu1170Val) c.4127A>T (p.Glu1376Val) c.2306A>T (p.Glu769Val) c.2906A>T (p.Glu969Val) c.3527A>T (p.Glu1176Val) c.1721A>T (p.Glu574Val) | gnomAD v4 |
2 | g.237371890T>C | CA351196890 | COL6A3 | c.3509A>G (p.Glu1170Gly) c.4127A>G (p.Glu1376Gly) c.2306A>G (p.Glu769Gly) c.2906A>G (p.Glu969Gly) c.3527A>G (p.Glu1176Gly) c.1721A>G (p.Glu574Gly) | |
2 | g.237371890T>G | CA351196891 | COL6A3 | c.3509A>C (p.Glu1170Ala) c.4127A>C (p.Glu1376Ala) c.2306A>C (p.Glu769Ala) c.2906A>C (p.Glu969Ala) c.3527A>C (p.Glu1176Ala) c.1721A>C (p.Glu574Ala) | |
2 | g.237371891C>A | CA351196895 | COL6A3 | c.3508G>T (p.Glu1170Ter) c.4126G>T (p.Glu1376Ter) c.2305G>T (p.Glu769Ter) c.2905G>T (p.Glu969Ter) c.3526G>T (p.Glu1176Ter) c.1720G>T (p.Glu574Ter) | |
2 | g.237371891C>G | CA351196897 | COL6A3 | c.3508G>C (p.Glu1170Gln) c.4126G>C (p.Glu1376Gln) c.2305G>C (p.Glu769Gln) c.2905G>C (p.Glu969Gln) c.3526G>C (p.Glu1176Gln) c.1720G>C (p.Glu574Gln) | |
2 | g.237371891C>T | CA351196894 | COL6A3 | c.3508G>A (p.Glu1170Lys) c.4126G>A (p.Glu1376Lys) c.2305G>A (p.Glu769Lys) c.2905G>A (p.Glu969Lys) c.3526G>A (p.Glu1176Lys) c.1720G>A (p.Glu574Lys) | gnomAD v4 |
2 | g.237371892C>A | CA351196899 | COL6A3 | c.3507G>T (p.Gln1169His) c.4125G>T (p.Gln1375His) c.2304G>T (p.Gln768His) c.2904G>T (p.Gln968His) c.3525G>T (p.Gln1175His) c.1719G>T (p.Gln573His) | dbSNP |
2 | g.237371892C= | CA1337623207 | COL6A3 | c.3507G= (p.Gln1169=) c.4125G= (p.Gln1375=) c.2304G= (p.Gln768=) c.2904G= (p.Gln968=) c.3525G= (p.Gln1175=) c.1719G= (p.Gln573=) | |
2 | g.237371892C>G | CA351196898 | COL6A3 | c.3507G>C (p.Gln1169His) c.4125G>C (p.Gln1375His) c.2304G>C (p.Gln768His) c.2904G>C (p.Gln968His) c.3525G>C (p.Gln1175His) c.1719G>C (p.Gln573His) | |
2 | g.237371892C>T | CA431711261 | COL6A3 | c.3507G>A (p.Gln1169=) c.4125G>A (p.Gln1375=) c.2304G>A (p.Gln768=) c.2904G>A (p.Gln968=) c.3525G>A (p.Gln1175=) c.1719G>A (p.Gln573=) | |
2 | g.237371892_237371893delinsCT | CA1337623208 | COL6A3 | c.3506_3507delinsAG (p.Gln1169=) c.4124_4125delinsAG (p.Gln1375=) c.2303_2304delinsAG (p.Gln768=) c.2903_2904delinsAG (p.Gln968=) c.3524_3525delinsAG (p.Gln1175=) c.1718_1719delinsAG (p.Gln573=) | |
2 | g.237371893del | CA10604256 | COL6A3 | c.3506del (p.Gln1169ArgfsTer5) c.4124del (p.Gln1375ArgfsTer5) c.2303del (p.Gln768ArgfsTer5) c.2903del (p.Gln968ArgfsTer5) c.3524del (p.Gln1175ArgfsTer5) c.1718del (p.Gln573ArgfsTer5) | ClinVar dbSNP |
2 | g.237371893T>A | CA351196902 | COL6A3 | c.3506A>T (p.Gln1169Leu) c.4124A>T (p.Gln1375Leu) c.2303A>T (p.Gln768Leu) c.2903A>T (p.Gln968Leu) c.3524A>T (p.Gln1175Leu) c.1718A>T (p.Gln573Leu) | |
2 | g.237371893T>C | CA351196904 | COL6A3 | c.3506A>G (p.Gln1169Arg) c.4124A>G (p.Gln1375Arg) c.2303A>G (p.Gln768Arg) c.2903A>G (p.Gln968Arg) c.3524A>G (p.Gln1175Arg) c.1718A>G (p.Gln573Arg) | dbSNP |
2 | g.237371893T>G | CA351196905 | COL6A3 | c.3506A>C (p.Gln1169Pro) c.4124A>C (p.Gln1375Pro) c.2303A>C (p.Gln768Pro) c.2903A>C (p.Gln968Pro) c.3524A>C (p.Gln1175Pro) c.1718A>C (p.Gln573Pro) | |
2 | g.237371893T= | CA1337623209 | COL6A3 | c.3506A= (p.Gln1169=) c.4124A= (p.Gln1375=) c.2303A= (p.Gln768=) c.2903A= (p.Gln968=) c.3524A= (p.Gln1175=) c.1718A= (p.Gln573=) | |
2 | g.237371894G>A | CA351196907 | COL6A3 | c.3505C>T (p.Gln1169Ter) c.4123C>T (p.Gln1375Ter) c.2302C>T (p.Gln768Ter) c.2902C>T (p.Gln968Ter) c.3523C>T (p.Gln1175Ter) c.1717C>T (p.Gln573Ter) | |
2 | g.237371894G>C | CA351196910 | COL6A3 | c.3505C>G (p.Gln1169Glu) c.4123C>G (p.Gln1375Glu) c.2302C>G (p.Gln768Glu) c.2902C>G (p.Gln968Glu) c.3523C>G (p.Gln1175Glu) c.1717C>G (p.Gln573Glu) | |
2 | g.237371894G>T | CA351196914 | COL6A3 | c.3505C>A (p.Gln1169Lys) c.4123C>A (p.Gln1375Lys) c.2302C>A (p.Gln768Lys) c.2902C>A (p.Gln968Lys) c.3523C>A (p.Gln1175Lys) c.1717C>A (p.Gln573Lys) | |
2 | g.237371895G>A | CA431711263 | COL6A3 | c.3504C>T (p.Asp1168=) c.4122C>T (p.Asp1374=) c.2301C>T (p.Asp767=) c.2901C>T (p.Asp967=) c.3522C>T (p.Asp1174=) c.1716C>T (p.Asp572=) | ClinVar dbSNP |
2 | g.237371895G>C | CA351196916 | COL6A3 | c.3504C>G (p.Asp1168Glu) c.4122C>G (p.Asp1374Glu) c.2301C>G (p.Asp767Glu) c.2901C>G (p.Asp967Glu) c.3522C>G (p.Asp1174Glu) c.1716C>G (p.Asp572Glu) | |
2 | g.237371895G>T | CA351196918 | COL6A3 | c.3504C>A (p.Asp1168Glu) c.4122C>A (p.Asp1374Glu) c.2301C>A (p.Asp767Glu) c.2901C>A (p.Asp967Glu) c.3522C>A (p.Asp1174Glu) c.1716C>A (p.Asp572Glu) | |
2 | g.237371896T>A | CA2188989 | COL6A3 | c.3503A>T (p.Asp1168Val) c.4121A>T (p.Asp1374Val) c.2300A>T (p.Asp767Val) c.2900A>T (p.Asp967Val) c.3521A>T (p.Asp1174Val) c.1715A>T (p.Asp572Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371896T>C | CA351196920 | COL6A3 | c.3503A>G (p.Asp1168Gly) c.4121A>G (p.Asp1374Gly) c.2300A>G (p.Asp767Gly) c.2900A>G (p.Asp967Gly) c.3521A>G (p.Asp1174Gly) c.1715A>G (p.Asp572Gly) | |
2 | g.237371896T>G | CA351196921 | COL6A3 | c.3503A>C (p.Asp1168Ala) c.4121A>C (p.Asp1374Ala) c.2300A>C (p.Asp767Ala) c.2900A>C (p.Asp967Ala) c.3521A>C (p.Asp1174Ala) c.1715A>C (p.Asp572Ala) | |
2 | g.237371896T= | CA1337623210 | COL6A3 | c.3503A= (p.Asp1168=) c.4121A= (p.Asp1374=) c.2300A= (p.Asp767=) c.2900A= (p.Asp967=) c.3521A= (p.Asp1174=) c.1715A= (p.Asp572=) | |
2 | g.237371897C>A | CA351196927 | COL6A3 | c.3502G>T (p.Asp1168Tyr) c.4120G>T (p.Asp1374Tyr) c.2299G>T (p.Asp767Tyr) c.2899G>T (p.Asp967Tyr) c.3520G>T (p.Asp1174Tyr) c.1714G>T (p.Asp572Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371897C= | CA1337623211 | COL6A3 | c.3502G= (p.Asp1168=) c.4120G= (p.Asp1374=) c.2299G= (p.Asp767=) c.2899G= (p.Asp967=) c.3520G= (p.Asp1174=) c.1714G= (p.Asp572=) | |
2 | g.237371897C>G | CA351196923 | COL6A3 | c.3502G>C (p.Asp1168His) c.4120G>C (p.Asp1374His) c.2299G>C (p.Asp767His) c.2899G>C (p.Asp967His) c.3520G>C (p.Asp1174His) c.1714G>C (p.Asp572His) | |
2 | g.237371897C>T | CA351196925 | COL6A3 | c.3502G>A (p.Asp1168Asn) c.4120G>A (p.Asp1374Asn) c.2299G>A (p.Asp767Asn) c.2899G>A (p.Asp967Asn) c.3520G>A (p.Asp1174Asn) c.1714G>A (p.Asp572Asn) | |
2 | g.237371898T>A | CA431711264 | COL6A3 | c.3501A>T (p.Ala1167=) c.4119A>T (p.Ala1373=) c.2298A>T (p.Ala766=) c.2898A>T (p.Ala966=) c.3519A>T (p.Ala1173=) c.1713A>T (p.Ala571=) | |
2 | g.237371898T>C | CA431711266 | COL6A3 | c.3501A>G (p.Ala1167=) c.4119A>G (p.Ala1373=) c.2298A>G (p.Ala766=) c.2898A>G (p.Ala966=) c.3519A>G (p.Ala1173=) c.1713A>G (p.Ala571=) | |
2 | g.237371898T>G | CA431711268 | COL6A3 | c.3501A>C (p.Ala1167=) c.4119A>C (p.Ala1373=) c.2298A>C (p.Ala766=) c.2898A>C (p.Ala966=) c.3519A>C (p.Ala1173=) c.1713A>C (p.Ala571=) | |
2 | g.237371899G>A | CA351196928 | COL6A3 | c.3500C>T (p.Ala1167Val) c.4118C>T (p.Ala1373Val) c.2297C>T (p.Ala766Val) c.2897C>T (p.Ala966Val) c.3518C>T (p.Ala1173Val) c.1712C>T (p.Ala571Val) | |
2 | g.237371899G>C | CA351196929 | COL6A3 | c.3500C>G (p.Ala1167Gly) c.4118C>G (p.Ala1373Gly) c.2297C>G (p.Ala766Gly) c.2897C>G (p.Ala966Gly) c.3518C>G (p.Ala1173Gly) c.1712C>G (p.Ala571Gly) | dbSNP |
2 | g.237371899G= | CA1337623212 | COL6A3 | c.3500C= (p.Ala1167=) c.4118C= (p.Ala1373=) c.2297C= (p.Ala766=) c.2897C= (p.Ala966=) c.3518C= (p.Ala1173=) c.1712C= (p.Ala571=) | |
2 | g.237371899G>T | CA351196930 | COL6A3 | c.3500C>A (p.Ala1167Glu) c.4118C>A (p.Ala1373Glu) c.2297C>A (p.Ala766Glu) c.2897C>A (p.Ala966Glu) c.3518C>A (p.Ala1173Glu) c.1712C>A (p.Ala571Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371899dup | CA2839076181 | COL6A3 | c.3500dup (p.Asp1168ArgfsTer?) c.4118dup (p.Asp1374ArgfsTer?) c.2297dup (p.Asp767ArgfsTer?) c.2897dup (p.Asp967ArgfsTer?) c.3518dup (p.Asp1174ArgfsTer?) c.1712dup (p.Asp572ArgfsTer?) | |
2 | g.237371900C>A | CA351196934 | COL6A3 | c.3499G>T (p.Ala1167Ser) c.4117G>T (p.Ala1373Ser) c.2296G>T (p.Ala766Ser) c.2896G>T (p.Ala966Ser) c.3517G>T (p.Ala1173Ser) c.1711G>T (p.Ala571Ser) | |
2 | g.237371900C= | CA1337623213 | COL6A3 | c.3499G= (p.Ala1167=) c.4117G= (p.Ala1373=) c.2296G= (p.Ala766=) c.2896G= (p.Ala966=) c.3517G= (p.Ala1173=) c.1711G= (p.Ala571=) | |
2 | g.237371900C>G | CA351196935 | COL6A3 | c.3499G>C (p.Ala1167Pro) c.4117G>C (p.Ala1373Pro) c.2296G>C (p.Ala766Pro) c.2896G>C (p.Ala966Pro) c.3517G>C (p.Ala1173Pro) c.1711G>C (p.Ala571Pro) | gnomAD v4 |
2 | g.237371900C>T | CA248096 | COL6A3 | c.3499G>A (p.Ala1167Thr) c.4117G>A (p.Ala1373Thr) c.2296G>A (p.Ala766Thr) c.2896G>A (p.Ala966Thr) c.3517G>A (p.Ala1173Thr) c.1711G>A (p.Ala571Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371901G>A | CA16604419 | COL6A3 | c.3498C>T (p.Asn1166=) c.4116C>T (p.Asn1372=) c.2295C>T (p.Asn765=) c.2895C>T (p.Asn965=) c.3516C>T (p.Asn1172=) c.1710C>T (p.Asn570=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371901G>C | CA351196937 | COL6A3 | c.3498C>G (p.Asn1166Lys) c.4116C>G (p.Asn1372Lys) c.2295C>G (p.Asn765Lys) c.2895C>G (p.Asn965Lys) c.3516C>G (p.Asn1172Lys) c.1710C>G (p.Asn570Lys) | |
2 | g.237371901G= | CA1337623214 | COL6A3 | c.3498C= (p.Asn1166=) c.4116C= (p.Asn1372=) c.2295C= (p.Asn765=) c.2895C= (p.Asn965=) c.3516C= (p.Asn1172=) c.1710C= (p.Asn570=) | |
2 | g.237371901G>T | CA351196939 | COL6A3 | c.3498C>A (p.Asn1166Lys) c.4116C>A (p.Asn1372Lys) c.2295C>A (p.Asn765Lys) c.2895C>A (p.Asn965Lys) c.3516C>A (p.Asn1172Lys) c.1710C>A (p.Asn570Lys) | |
2 | g.237371902T>A | CA351196941 | COL6A3 | c.3497A>T (p.Asn1166Ile) c.4115A>T (p.Asn1372Ile) c.2294A>T (p.Asn765Ile) c.2894A>T (p.Asn965Ile) c.3515A>T (p.Asn1172Ile) c.1709A>T (p.Asn570Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371902T>C | CA351196943 | COL6A3 | c.3497A>G (p.Asn1166Ser) c.4115A>G (p.Asn1372Ser) c.2294A>G (p.Asn765Ser) c.2894A>G (p.Asn965Ser) c.3515A>G (p.Asn1172Ser) c.1709A>G (p.Asn570Ser) | gnomAD v4 |
2 | g.237371902T>G | CA351196944 | COL6A3 | c.3497A>C (p.Asn1166Thr) c.4115A>C (p.Asn1372Thr) c.2294A>C (p.Asn765Thr) c.2894A>C (p.Asn965Thr) c.3515A>C (p.Asn1172Thr) c.1709A>C (p.Asn570Thr) | |
2 | g.237371902T= | CA1337623215 | COL6A3 | c.3497A= (p.Asn1166=) c.4115A= (p.Asn1372=) c.2294A= (p.Asn765=) c.2894A= (p.Asn965=) c.3515A= (p.Asn1172=) c.1709A= (p.Asn570=) | |
2 | g.237371903T>A | CA351196948 | COL6A3 | c.3496A>T (p.Asn1166Tyr) c.4114A>T (p.Asn1372Tyr) c.2293A>T (p.Asn765Tyr) c.2893A>T (p.Asn965Tyr) c.3514A>T (p.Asn1172Tyr) c.1708A>T (p.Asn570Tyr) | |
2 | g.237371903T>C | CA351196949 | COL6A3 | c.3496A>G (p.Asn1166Asp) c.4114A>G (p.Asn1372Asp) c.2293A>G (p.Asn765Asp) c.2893A>G (p.Asn965Asp) c.3514A>G (p.Asn1172Asp) c.1708A>G (p.Asn570Asp) | gnomAD v4 |
2 | g.237371903T>G | CA351196947 | COL6A3 | c.3496A>C (p.Asn1166His) c.4114A>C (p.Asn1372His) c.2293A>C (p.Asn765His) c.2893A>C (p.Asn965His) c.3514A>C (p.Asn1172His) c.1708A>C (p.Asn570His) | |
2 | g.237371904C>A | CA351196951 | COL6A3 | c.3495G>T (p.Arg1165Ser) c.4113G>T (p.Arg1371Ser) c.2292G>T (p.Arg764Ser) c.2892G>T (p.Arg964Ser) c.3513G>T (p.Arg1171Ser) c.1707G>T (p.Arg569Ser) | |
2 | g.237371904C= | CA1337623216 | COL6A3 | c.3495G= (p.Arg1165=) c.4113G= (p.Arg1371=) c.2292G= (p.Arg764=) c.2892G= (p.Arg964=) c.3513G= (p.Arg1171=) c.1707G= (p.Arg569=) | |
2 | g.237371904C>G | CA351196953 | COL6A3 | c.3495G>C (p.Arg1165Ser) c.4113G>C (p.Arg1371Ser) c.2292G>C (p.Arg764Ser) c.2892G>C (p.Arg964Ser) c.3513G>C (p.Arg1171Ser) c.1707G>C (p.Arg569Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237371904C>T | CA431711271 | COL6A3 | c.3495G>A (p.Arg1165=) c.4113G>A (p.Arg1371=) c.2292G>A (p.Arg764=) c.2892G>A (p.Arg964=) c.3513G>A (p.Arg1171=) c.1707G>A (p.Arg569=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237371905C>A | CA351196955 | COL6A3 | c.3494G>T (p.Arg1165Met) c.4112G>T (p.Arg1371Met) c.2291G>T (p.Arg764Met) c.2891G>T (p.Arg964Met) c.3512G>T (p.Arg1171Met) c.1706G>T (p.Arg569Met) | |
2 | g.237371905C= | CA1337623217 | COL6A3 | c.3494G= (p.Arg1165=) c.4112G= (p.Arg1371=) c.2291G= (p.Arg764=) c.2891G= (p.Arg964=) c.3512G= (p.Arg1171=) c.1706G= (p.Arg569=) | |
2 | g.237371905C>G | CA351196957 | COL6A3 | c.3494G>C (p.Arg1165Thr) c.4112G>C (p.Arg1371Thr) c.2291G>C (p.Arg764Thr) c.2891G>C (p.Arg964Thr) c.3512G>C (p.Arg1171Thr) c.1706G>C (p.Arg569Thr) | |
2 | g.237371905C>T | CA351196958 | COL6A3 | c.3494G>A (p.Arg1165Lys) c.4112G>A (p.Arg1371Lys) c.2291G>A (p.Arg764Lys) c.2891G>A (p.Arg964Lys) c.3512G>A (p.Arg1171Lys) c.1706G>A (p.Arg569Lys) | dbSNP gnomAD v4 |
2 | g.237371906T>A | CA351196959 | COL6A3 | c.3493A>T (p.Arg1165Trp) c.4111A>T (p.Arg1371Trp) c.2290A>T (p.Arg764Trp) c.2890A>T (p.Arg964Trp) c.3511A>T (p.Arg1171Trp) c.1705A>T (p.Arg569Trp) | |
2 | g.237371906T>C | CA351196961 | COL6A3 | c.3493A>G (p.Arg1165Gly) c.4111A>G (p.Arg1371Gly) c.2290A>G (p.Arg764Gly) c.2890A>G (p.Arg964Gly) c.3511A>G (p.Arg1171Gly) c.1705A>G (p.Arg569Gly) | |
2 | g.237371906T>G | CA431711272 | COL6A3 | c.3493A>C (p.Arg1165=) c.4111A>C (p.Arg1371=) c.2290A>C (p.Arg764=) c.2890A>C (p.Arg964=) c.3511A>C (p.Arg1171=) c.1705A>C (p.Arg569=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371906T= | CA1337623218 | COL6A3 | c.3493A= (p.Arg1165=) c.4111A= (p.Arg1371=) c.2290A= (p.Arg764=) c.2890A= (p.Arg964=) c.3511A= (p.Arg1171=) c.1705A= (p.Arg569=) | |
2 | g.237371907G>A | CA431711274 | COL6A3 | c.3492C>T (p.Ala1164=) c.4110C>T (p.Ala1370=) c.2289C>T (p.Ala763=) c.2889C>T (p.Ala963=) c.3510C>T (p.Ala1170=) c.1704C>T (p.Ala568=) | ClinVar dbSNP gnomAD v4 |
2 | g.237371907G>C | CA431711276 | COL6A3 | c.3492C>G (p.Ala1164=) c.4110C>G (p.Ala1370=) c.2289C>G (p.Ala763=) c.2889C>G (p.Ala963=) c.3510C>G (p.Ala1170=) c.1704C>G (p.Ala568=) | |
2 | g.237371907G= | CA1337623219 | COL6A3 | c.3492C= (p.Ala1164=) c.4110C= (p.Ala1370=) c.2289C= (p.Ala763=) c.2889C= (p.Ala963=) c.3510C= (p.Ala1170=) c.1704C= (p.Ala568=) | |
2 | g.237371907G>T | CA431711277 | COL6A3 | c.3492C>A (p.Ala1164=) c.4110C>A (p.Ala1370=) c.2289C>A (p.Ala763=) c.2889C>A (p.Ala963=) c.3510C>A (p.Ala1170=) c.1704C>A (p.Ala568=) | |
2 | g.237371908G>A | CA351196962 | COL6A3 | c.3491C>T (p.Ala1164Val) c.4109C>T (p.Ala1370Val) c.2288C>T (p.Ala763Val) c.2888C>T (p.Ala963Val) c.3509C>T (p.Ala1170Val) c.1703C>T (p.Ala568Val) | gnomAD v4 |
2 | g.237371908G>C | CA351196972 | COL6A3 | c.3491C>G (p.Ala1164Gly) c.4109C>G (p.Ala1370Gly) c.2288C>G (p.Ala763Gly) c.2888C>G (p.Ala963Gly) c.3509C>G (p.Ala1170Gly) c.1703C>G (p.Ala568Gly) | |
2 | g.237371908G>T | CA351196964 | COL6A3 | c.3491C>A (p.Ala1164Asp) c.4109C>A (p.Ala1370Asp) c.2288C>A (p.Ala763Asp) c.2888C>A (p.Ala963Asp) c.3509C>A (p.Ala1170Asp) c.1703C>A (p.Ala568Asp) | |
2 | g.237371909C>A | CA2188990 | COL6A3 | c.3490G>T (p.Ala1164Ser) c.4108G>T (p.Ala1370Ser) c.2287G>T (p.Ala763Ser) c.2887G>T (p.Ala963Ser) c.3508G>T (p.Ala1170Ser) c.1702G>T (p.Ala568Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237371909C= | CA1337623220 | COL6A3 | c.3490G= (p.Ala1164=) c.4108G= (p.Ala1370=) c.2287G= (p.Ala763=) c.2887G= (p.Ala963=) c.3508G= (p.Ala1170=) c.1702G= (p.Ala568=) | |
2 | g.237371909C>G | CA351196976 | COL6A3 | c.3490G>C (p.Ala1164Pro) c.4108G>C (p.Ala1370Pro) c.2287G>C (p.Ala763Pro) c.2887G>C (p.Ala963Pro) c.3508G>C (p.Ala1170Pro) c.1702G>C (p.Ala568Pro) | |
2 | g.237371909C>T | CA2188991 | COL6A3 | c.3490G>A (p.Ala1164Thr) c.4108G>A (p.Ala1370Thr) c.2287G>A (p.Ala763Thr) c.2887G>A (p.Ala963Thr) c.3508G>A (p.Ala1170Thr) c.1702G>A (p.Ala568Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.237371910G>A | CA147956 | COL6A3 | c.3489C>T (p.Ile1163=) c.4107C>T (p.Ile1369=) c.2286C>T (p.Ile762=) c.2886C>T (p.Ile962=) c.3507C>T (p.Ile1169=) c.1701C>T (p.Ile567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237371910G>C | CA2188992 | COL6A3 | c.3489C>G (p.Ile1163Met) c.4107C>G (p.Ile1369Met) c.2286C>G (p.Ile762Met) c.2886C>G (p.Ile962Met) c.3507C>G (p.Ile1169Met) c.1701C>G (p.Ile567Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237371910G= | CA1337623221 | COL6A3 | c.3489C= (p.Ile1163=) c.4107C= (p.Ile1369=) c.2286C= (p.Ile762=) c.2886C= (p.Ile962=) c.3507C= (p.Ile1169=) c.1701C= (p.Ile567=) | |
2 | g.237371910G>T | CA431711278 | COL6A3 | c.3489C>A (p.Ile1163=) c.4107C>A (p.Ile1369=) c.2286C>A (p.Ile762=) c.2886C>A (p.Ile962=) c.3507C>A (p.Ile1169=) c.1701C>A (p.Ile567=) | |
2 | g.237371911A>C | CA351196982 | COL6A3 | c.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) | |
2 | g.237371911A>G | CA351196986 | COL6A3 | c.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) | |
2 | g.237371911A>T | CA351196984 | COL6A3 | c.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) | |
2 | g.237371912T>A | CA351196987 | COL6A3 | c.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) | |
2 | g.237371912T>C | CA351196988 | COL6A3 | c.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) | |
2 | g.237371912T>G | CA351196989 | COL6A3 | c.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) | |
2 | g.237371913C>A | CA431711280 | COL6A3 | c.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 |
2 | g.237371913C= | CA1337623222 | COL6A3 | c.3486G= (p.Thr1162=) c.4104G= (p.Thr1368=) c.2283G= (p.Thr761=) c.2883G= (p.Thr961=) c.3504G= (p.Thr1168=) c.1698G= (p.Thr566=) | |
2 | g.237371913C>G | CA431711281 | COL6A3 | c.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 |
2 | g.237371913C>T | CA2188993 | COL6A3 | c.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 |
2 | g.237371914G>A | CA248090 | COL6A3 | c.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 |
2 | g.237371914G>C | CA351196996 | COL6A3 | c.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) | |
2 | g.237371914G= | CA1337623223 | COL6A3 | c.3485C= (p.Thr1162=) c.4103C= (p.Thr1368=) c.2282C= (p.Thr761=) c.2882C= (p.Thr961=) c.3503C= (p.Thr1168=) c.1697C= (p.Thr566=) | |
2 | g.237371914G>T | CA351196998 | COL6A3 | c.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 |
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) |