Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237336496G>A | CA431674920 | COL6A3 | c.1249C>T c.7986C>T (p.Ser2662=) c.731C>T n.871C>T c.8604C>T (p.Ser2868=) c.6780C>T (p.Ser2260=) c.6783C>T (p.Ser2261=) n.5046C>T c.8004C>T (p.Ser2668=) c.7383C>T (p.Ser2461=) c.8103C>T (p.Ser2701=) c.8601C>T (p.Ser2867=) c.6198C>T (p.Ser2066=) | ClinVar |
2 | g.237336496G>C | CA431674921 | COL6A3 | c.1249C>G c.7986C>G (p.Ser2662=) c.731C>G n.871C>G c.8604C>G (p.Ser2868=) c.6780C>G (p.Ser2260=) c.6783C>G (p.Ser2261=) n.5046C>G c.8004C>G (p.Ser2668=) c.7383C>G (p.Ser2461=) c.8103C>G (p.Ser2701=) c.8601C>G (p.Ser2867=) c.6198C>G (p.Ser2066=) | |
2 | g.237336496G>T | CA431674922 | COL6A3 | c.1249C>A c.7986C>A (p.Ser2662=) c.731C>A n.871C>A c.8604C>A (p.Ser2868=) c.6780C>A (p.Ser2260=) c.6783C>A (p.Ser2261=) n.5046C>A c.8004C>A (p.Ser2668=) c.7383C>A (p.Ser2461=) c.8103C>A (p.Ser2701=) c.8601C>A (p.Ser2867=) c.6198C>A (p.Ser2066=) | |
2 | g.237336497G>A | CA351192004 | COL6A3 | c.1248C>T c.7985C>T (p.Ser2662Phe) c.730C>T n.870C>T c.8603C>T (p.Ser2868Phe) c.6779C>T (p.Ser2260Phe) c.6782C>T (p.Ser2261Phe) n.5045C>T c.8003C>T (p.Ser2668Phe) c.7382C>T (p.Ser2461Phe) c.8102C>T (p.Ser2701Phe) c.8600C>T (p.Ser2867Phe) c.6197C>T (p.Ser2066Phe) | |
2 | g.237336497G>C | CA351192005 | COL6A3 | c.1248C>G c.7985C>G (p.Ser2662Cys) c.730C>G n.870C>G c.8603C>G (p.Ser2868Cys) c.6779C>G (p.Ser2260Cys) c.6782C>G (p.Ser2261Cys) n.5045C>G c.8003C>G (p.Ser2668Cys) c.7382C>G (p.Ser2461Cys) c.8102C>G (p.Ser2701Cys) c.8600C>G (p.Ser2867Cys) c.6197C>G (p.Ser2066Cys) | |
2 | g.237336497G>T | CA351192006 | COL6A3 | c.1248C>A c.7985C>A (p.Ser2662Tyr) c.730C>A n.870C>A c.8603C>A (p.Ser2868Tyr) c.6779C>A (p.Ser2260Tyr) c.6782C>A (p.Ser2261Tyr) n.5045C>A c.8003C>A (p.Ser2668Tyr) c.7382C>A (p.Ser2461Tyr) c.8102C>A (p.Ser2701Tyr) c.8600C>A (p.Ser2867Tyr) c.6197C>A (p.Ser2066Tyr) | |
2 | g.237336498A>C | CA351192007 | COL6A3 | c.1247T>G c.7984T>G (p.Ser2662Ala) c.729T>G n.869T>G c.8602T>G (p.Ser2868Ala) c.6778T>G (p.Ser2260Ala) c.6781T>G (p.Ser2261Ala) n.5044T>G c.8002T>G (p.Ser2668Ala) c.7381T>G (p.Ser2461Ala) c.8101T>G (p.Ser2701Ala) c.8599T>G (p.Ser2867Ala) c.6196T>G (p.Ser2066Ala) | |
2 | g.237336498A>G | CA351192008 | COL6A3 | c.1247T>C c.7984T>C (p.Ser2662Pro) c.729T>C n.869T>C c.8602T>C (p.Ser2868Pro) c.6778T>C (p.Ser2260Pro) c.6781T>C (p.Ser2261Pro) n.5044T>C c.8002T>C (p.Ser2668Pro) c.7381T>C (p.Ser2461Pro) c.8101T>C (p.Ser2701Pro) c.8599T>C (p.Ser2867Pro) c.6196T>C (p.Ser2066Pro) | |
2 | g.237336498A>T | CA351192009 | COL6A3 | c.1247T>A c.7984T>A (p.Ser2662Thr) c.729T>A n.869T>A c.8602T>A (p.Ser2868Thr) c.6778T>A (p.Ser2260Thr) c.6781T>A (p.Ser2261Thr) n.5044T>A c.8002T>A (p.Ser2668Thr) c.7381T>A (p.Ser2461Thr) c.8101T>A (p.Ser2701Thr) c.8599T>A (p.Ser2867Thr) c.6196T>A (p.Ser2066Thr) | |
2 | g.237336499T>A | CA431674923 | COL6A3 | c.1246A>T c.7983A>T (p.Thr2661=) c.728A>T n.868A>T c.8601A>T (p.Thr2867=) c.6777A>T (p.Thr2259=) c.6780A>T (p.Thr2260=) n.5043A>T c.8001A>T (p.Thr2667=) c.7380A>T (p.Thr2460=) c.8100A>T (p.Thr2700=) c.8598A>T (p.Thr2866=) c.6195A>T (p.Thr2065=) | |
2 | g.237336499T>C | CA431674924 | COL6A3 | c.1246A>G c.7983A>G (p.Thr2661=) c.728A>G n.868A>G c.8601A>G (p.Thr2867=) c.6777A>G (p.Thr2259=) c.6780A>G (p.Thr2260=) n.5043A>G c.8001A>G (p.Thr2667=) c.7380A>G (p.Thr2460=) c.8100A>G (p.Thr2700=) c.8598A>G (p.Thr2866=) c.6195A>G (p.Thr2065=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336499T>G | CA431674925 | COL6A3 | c.1246A>C c.7983A>C (p.Thr2661=) c.728A>C n.868A>C c.8601A>C (p.Thr2867=) c.6777A>C (p.Thr2259=) c.6780A>C (p.Thr2260=) n.5043A>C c.8001A>C (p.Thr2667=) c.7380A>C (p.Thr2460=) c.8100A>C (p.Thr2700=) c.8598A>C (p.Thr2866=) c.6195A>C (p.Thr2065=) | |
2 | g.237336499T= | CA1337607230 | COL6A3 | c.1246A= c.7983A= (p.Thr2661=) c.728A= n.868A= c.8601A= (p.Thr2867=) c.6777A= (p.Thr2259=) c.6780A= (p.Thr2260=) n.5043A= c.8001A= (p.Thr2667=) c.7380A= (p.Thr2460=) c.8100A= (p.Thr2700=) c.8598A= (p.Thr2866=) c.6195A= (p.Thr2065=) | |
2 | g.237336500G>A | CA351192010 | COL6A3 | c.1245C>T c.7982C>T (p.Thr2661Ile) c.727C>T n.867C>T c.8600C>T (p.Thr2867Ile) c.6776C>T (p.Thr2259Ile) c.6779C>T (p.Thr2260Ile) n.5042C>T c.8000C>T (p.Thr2667Ile) c.7379C>T (p.Thr2460Ile) c.8099C>T (p.Thr2700Ile) c.8597C>T (p.Thr2866Ile) c.6194C>T (p.Thr2065Ile) | |
2 | g.237336500G>C | CA351192011 | COL6A3 | c.1245C>G c.7982C>G (p.Thr2661Arg) c.727C>G n.867C>G c.8600C>G (p.Thr2867Arg) c.6776C>G (p.Thr2259Arg) c.6779C>G (p.Thr2260Arg) n.5042C>G c.8000C>G (p.Thr2667Arg) c.7379C>G (p.Thr2460Arg) c.8099C>G (p.Thr2700Arg) c.8597C>G (p.Thr2866Arg) c.6194C>G (p.Thr2065Arg) | |
2 | g.237336500G>T | CA351192012 | COL6A3 | c.1245C>A c.7982C>A (p.Thr2661Lys) c.727C>A n.867C>A c.8600C>A (p.Thr2867Lys) c.6776C>A (p.Thr2259Lys) c.6779C>A (p.Thr2260Lys) n.5042C>A c.8000C>A (p.Thr2667Lys) c.7379C>A (p.Thr2460Lys) c.8099C>A (p.Thr2700Lys) c.8597C>A (p.Thr2866Lys) c.6194C>A (p.Thr2065Lys) | |
2 | g.237336501T>A | CA351192013 | COL6A3 | c.1244A>T c.7981A>T (p.Thr2661Ser) c.726A>T n.866A>T c.8599A>T (p.Thr2867Ser) c.6775A>T (p.Thr2259Ser) c.6778A>T (p.Thr2260Ser) n.5041A>T c.7999A>T (p.Thr2667Ser) c.7378A>T (p.Thr2460Ser) c.8098A>T (p.Thr2700Ser) c.8596A>T (p.Thr2866Ser) c.6193A>T (p.Thr2065Ser) | |
2 | g.237336501T>C | CA67830761 | COL6A3 | c.1244A>G c.7981A>G (p.Thr2661Ala) c.726A>G n.866A>G c.8599A>G (p.Thr2867Ala) c.6775A>G (p.Thr2259Ala) c.6778A>G (p.Thr2260Ala) n.5041A>G c.7999A>G (p.Thr2667Ala) c.7378A>G (p.Thr2460Ala) c.8098A>G (p.Thr2700Ala) c.8596A>G (p.Thr2866Ala) c.6193A>G (p.Thr2065Ala) | dbSNP |
2 | g.237336501T>G | CA351192014 | COL6A3 | c.1244A>C c.7981A>C (p.Thr2661Pro) c.726A>C n.866A>C c.8599A>C (p.Thr2867Pro) c.6775A>C (p.Thr2259Pro) c.6778A>C (p.Thr2260Pro) n.5041A>C c.7999A>C (p.Thr2667Pro) c.7378A>C (p.Thr2460Pro) c.8098A>C (p.Thr2700Pro) c.8596A>C (p.Thr2866Pro) c.6193A>C (p.Thr2065Pro) | |
2 | g.237336501T= | CA1337607231 | COL6A3 | c.1244A= c.7981A= (p.Thr2661=) c.726A= n.866A= c.8599A= (p.Thr2867=) c.6775A= (p.Thr2259=) c.6778A= (p.Thr2260=) n.5041A= c.7999A= (p.Thr2667=) c.7378A= (p.Thr2460=) c.8098A= (p.Thr2700=) c.8596A= (p.Thr2866=) c.6193A= (p.Thr2065=) | |
2 | g.237336502A= | CA1337607232 | COL6A3 | c.1243T= c.7980T= (p.Pro2660=) c.725T= n.865T= c.8598T= (p.Pro2866=) c.6774T= (p.Pro2258=) c.6777T= (p.Pro2259=) n.5040T= c.7998T= (p.Pro2666=) c.7377T= (p.Pro2459=) c.8097T= (p.Pro2699=) c.8595T= (p.Pro2865=) c.6192T= (p.Pro2064=) | |
2 | g.237336502A>C | CA431674926 | COL6A3 | c.1243T>G c.7980T>G (p.Pro2660=) c.725T>G n.865T>G c.8598T>G (p.Pro2866=) c.6774T>G (p.Pro2258=) c.6777T>G (p.Pro2259=) n.5040T>G c.7998T>G (p.Pro2666=) c.7377T>G (p.Pro2459=) c.8097T>G (p.Pro2699=) c.8595T>G (p.Pro2865=) c.6192T>G (p.Pro2064=) | |
2 | g.237336502A>G | CA431674927 | COL6A3 | c.1243T>C c.7980T>C (p.Pro2660=) c.725T>C n.865T>C c.8598T>C (p.Pro2866=) c.6774T>C (p.Pro2258=) c.6777T>C (p.Pro2259=) n.5040T>C c.7998T>C (p.Pro2666=) c.7377T>C (p.Pro2459=) c.8097T>C (p.Pro2699=) c.8595T>C (p.Pro2865=) c.6192T>C (p.Pro2064=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336502A>T | CA431674928 | COL6A3 | c.1243T>A c.7980T>A (p.Pro2660=) c.725T>A n.865T>A c.8598T>A (p.Pro2866=) c.6774T>A (p.Pro2258=) c.6777T>A (p.Pro2259=) n.5040T>A c.7998T>A (p.Pro2666=) c.7377T>A (p.Pro2459=) c.8097T>A (p.Pro2699=) c.8595T>A (p.Pro2865=) c.6192T>A (p.Pro2064=) | |
2 | g.237336503G>A | CA351192016 | COL6A3 | c.1242C>T c.7979C>T (p.Pro2660Leu) c.724C>T n.864C>T c.8597C>T (p.Pro2866Leu) c.6773C>T (p.Pro2258Leu) c.6776C>T (p.Pro2259Leu) n.5039C>T c.7997C>T (p.Pro2666Leu) c.7376C>T (p.Pro2459Leu) c.8096C>T (p.Pro2699Leu) c.8594C>T (p.Pro2865Leu) c.6191C>T (p.Pro2064Leu) | |
2 | g.237336503G>C | CA351192017 | COL6A3 | c.1242C>G c.7979C>G (p.Pro2660Arg) c.724C>G n.864C>G c.8597C>G (p.Pro2866Arg) c.6773C>G (p.Pro2258Arg) c.6776C>G (p.Pro2259Arg) n.5039C>G c.7997C>G (p.Pro2666Arg) c.7376C>G (p.Pro2459Arg) c.8096C>G (p.Pro2699Arg) c.8594C>G (p.Pro2865Arg) c.6191C>G (p.Pro2064Arg) | |
2 | g.237336503G>T | CA351192015 | COL6A3 | c.1242C>A c.7979C>A (p.Pro2660His) c.724C>A n.864C>A c.8597C>A (p.Pro2866His) c.6773C>A (p.Pro2258His) c.6776C>A (p.Pro2259His) n.5039C>A c.7997C>A (p.Pro2666His) c.7376C>A (p.Pro2459His) c.8096C>A (p.Pro2699His) c.8594C>A (p.Pro2865His) c.6191C>A (p.Pro2064His) | |
2 | g.237336504G>A | CA2187493 | COL6A3 | c.1241C>T c.7978C>T (p.Pro2660Ser) c.723C>T n.863C>T c.8596C>T (p.Pro2866Ser) c.6772C>T (p.Pro2258Ser) c.6775C>T (p.Pro2259Ser) n.5038C>T c.7996C>T (p.Pro2666Ser) c.7375C>T (p.Pro2459Ser) c.8095C>T (p.Pro2699Ser) c.8593C>T (p.Pro2865Ser) c.6190C>T (p.Pro2064Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336504G>C | CA351192019 | COL6A3 | c.1241C>G c.7978C>G (p.Pro2660Ala) c.723C>G n.863C>G c.8596C>G (p.Pro2866Ala) c.6772C>G (p.Pro2258Ala) c.6775C>G (p.Pro2259Ala) n.5038C>G c.7996C>G (p.Pro2666Ala) c.7375C>G (p.Pro2459Ala) c.8095C>G (p.Pro2699Ala) c.8593C>G (p.Pro2865Ala) c.6190C>G (p.Pro2064Ala) | |
2 | g.237336504G= | CA1337607233 | COL6A3 | c.1241C= c.7978C= (p.Pro2660=) c.723C= n.863C= c.8596C= (p.Pro2866=) c.6772C= (p.Pro2258=) c.6775C= (p.Pro2259=) n.5038C= c.7996C= (p.Pro2666=) c.7375C= (p.Pro2459=) c.8095C= (p.Pro2699=) c.8593C= (p.Pro2865=) c.6190C= (p.Pro2064=) | |
2 | g.237336504G>T | CA351192018 | COL6A3 | c.1241C>A c.7978C>A (p.Pro2660Thr) c.723C>A n.863C>A c.8596C>A (p.Pro2866Thr) c.6772C>A (p.Pro2258Thr) c.6775C>A (p.Pro2259Thr) n.5038C>A c.7996C>A (p.Pro2666Thr) c.7375C>A (p.Pro2459Thr) c.8095C>A (p.Pro2699Thr) c.8593C>A (p.Pro2865Thr) c.6190C>A (p.Pro2064Thr) | |
2 | g.237336505A>C | CA351192020 | COL6A3 | c.1240T>G c.7977T>G (p.Ser2659Arg) c.722T>G n.862T>G c.8595T>G (p.Ser2865Arg) c.6771T>G (p.Ser2257Arg) c.6774T>G (p.Ser2258Arg) n.5037T>G c.7995T>G (p.Ser2665Arg) c.7374T>G (p.Ser2458Arg) c.8094T>G (p.Ser2698Arg) c.8592T>G (p.Ser2864Arg) c.6189T>G (p.Ser2063Arg) | |
2 | g.237336505A>G | CA431674929 | COL6A3 | c.1240T>C c.7977T>C (p.Ser2659=) c.722T>C n.862T>C c.8595T>C (p.Ser2865=) c.6771T>C (p.Ser2257=) c.6774T>C (p.Ser2258=) n.5037T>C c.7995T>C (p.Ser2665=) c.7374T>C (p.Ser2458=) c.8094T>C (p.Ser2698=) c.8592T>C (p.Ser2864=) c.6189T>C (p.Ser2063=) | gnomAD v4 |
2 | g.237336505A>T | CA351192021 | COL6A3 | c.1240T>A c.7977T>A (p.Ser2659Arg) c.722T>A n.862T>A c.8595T>A (p.Ser2865Arg) c.6771T>A (p.Ser2257Arg) c.6774T>A (p.Ser2258Arg) n.5037T>A c.7995T>A (p.Ser2665Arg) c.7374T>A (p.Ser2458Arg) c.8094T>A (p.Ser2698Arg) c.8592T>A (p.Ser2864Arg) c.6189T>A (p.Ser2063Arg) | |
2 | g.237336506C>A | CA351192022 | COL6A3 | c.1239G>T c.7976G>T (p.Ser2659Ile) c.721G>T n.861G>T c.8594G>T (p.Ser2865Ile) c.6770G>T (p.Ser2257Ile) c.6773G>T (p.Ser2258Ile) n.5036G>T c.7994G>T (p.Ser2665Ile) c.7373G>T (p.Ser2458Ile) c.8093G>T (p.Ser2698Ile) c.8591G>T (p.Ser2864Ile) c.6188G>T (p.Ser2063Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336506C= | CA1337607234 | COL6A3 | c.1239G= c.7976G= (p.Ser2659=) c.721G= n.861G= c.8594G= (p.Ser2865=) c.6770G= (p.Ser2257=) c.6773G= (p.Ser2258=) n.5036G= c.7994G= (p.Ser2665=) c.7373G= (p.Ser2458=) c.8093G= (p.Ser2698=) c.8591G= (p.Ser2864=) c.6188G= (p.Ser2063=) | |
2 | g.237336506C>G | CA351192023 | COL6A3 | c.1239G>C c.7976G>C (p.Ser2659Thr) c.721G>C n.861G>C c.8594G>C (p.Ser2865Thr) c.6770G>C (p.Ser2257Thr) c.6773G>C (p.Ser2258Thr) n.5036G>C c.7994G>C (p.Ser2665Thr) c.7373G>C (p.Ser2458Thr) c.8093G>C (p.Ser2698Thr) c.8591G>C (p.Ser2864Thr) c.6188G>C (p.Ser2063Thr) | |
2 | g.237336506C>T | CA351192024 | COL6A3 | c.1239G>A c.7976G>A (p.Ser2659Asn) c.721G>A n.861G>A c.8594G>A (p.Ser2865Asn) c.6770G>A (p.Ser2257Asn) c.6773G>A (p.Ser2258Asn) n.5036G>A c.7994G>A (p.Ser2665Asn) c.7373G>A (p.Ser2458Asn) c.8093G>A (p.Ser2698Asn) c.8591G>A (p.Ser2864Asn) c.6188G>A (p.Ser2063Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336507T>A | CA351192027 | COL6A3 | c.1238A>T c.7975A>T (p.Ser2659Cys) c.720A>T n.860A>T c.8593A>T (p.Ser2865Cys) c.6769A>T (p.Ser2257Cys) c.6772A>T (p.Ser2258Cys) n.5035A>T c.7993A>T (p.Ser2665Cys) c.7372A>T (p.Ser2458Cys) c.8092A>T (p.Ser2698Cys) c.8590A>T (p.Ser2864Cys) c.6187A>T (p.Ser2063Cys) | gnomAD v4 |
2 | g.237336507T>C | CA351192026 | COL6A3 | c.1238A>G c.7975A>G (p.Ser2659Gly) c.720A>G n.860A>G c.8593A>G (p.Ser2865Gly) c.6769A>G (p.Ser2257Gly) c.6772A>G (p.Ser2258Gly) n.5035A>G c.7993A>G (p.Ser2665Gly) c.7372A>G (p.Ser2458Gly) c.8092A>G (p.Ser2698Gly) c.8590A>G (p.Ser2864Gly) c.6187A>G (p.Ser2063Gly) | |
2 | g.237336507T>G | CA351192025 | COL6A3 | c.1238A>C c.7975A>C (p.Ser2659Arg) c.720A>C n.860A>C c.8593A>C (p.Ser2865Arg) c.6769A>C (p.Ser2257Arg) c.6772A>C (p.Ser2258Arg) n.5035A>C c.7993A>C (p.Ser2665Arg) c.7372A>C (p.Ser2458Arg) c.8092A>C (p.Ser2698Arg) c.8590A>C (p.Ser2864Arg) c.6187A>C (p.Ser2063Arg) | |
2 | g.237336508T>A | CA431674930 | COL6A3 | c.1237A>T c.7974A>T (p.Ser2658=) c.719A>T n.859A>T c.8592A>T (p.Ser2864=) c.6768A>T (p.Ser2256=) c.6771A>T (p.Ser2257=) n.5034A>T c.7992A>T (p.Ser2664=) c.7371A>T (p.Ser2457=) c.8091A>T (p.Ser2697=) c.8589A>T (p.Ser2863=) c.6186A>T (p.Ser2062=) | |
2 | g.237336508T>C | CA67830771 | COL6A3 | c.1237A>G c.7974A>G (p.Ser2658=) c.719A>G n.859A>G c.8592A>G (p.Ser2864=) c.6768A>G (p.Ser2256=) c.6771A>G (p.Ser2257=) n.5034A>G c.7992A>G (p.Ser2664=) c.7371A>G (p.Ser2457=) c.8091A>G (p.Ser2697=) c.8589A>G (p.Ser2863=) c.6186A>G (p.Ser2062=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336508T>G | CA431674931 | COL6A3 | c.1237A>C c.7974A>C (p.Ser2658=) c.719A>C n.859A>C c.8592A>C (p.Ser2864=) c.6768A>C (p.Ser2256=) c.6771A>C (p.Ser2257=) n.5034A>C c.7992A>C (p.Ser2664=) c.7371A>C (p.Ser2457=) c.8091A>C (p.Ser2697=) c.8589A>C (p.Ser2863=) c.6186A>C (p.Ser2062=) | |
2 | g.237336508T= | CA1337607235 | COL6A3 | c.1237A= c.7974A= (p.Ser2658=) c.719A= n.859A= c.8592A= (p.Ser2864=) c.6768A= (p.Ser2256=) c.6771A= (p.Ser2257=) n.5034A= c.7992A= (p.Ser2664=) c.7371A= (p.Ser2457=) c.8091A= (p.Ser2697=) c.8589A= (p.Ser2863=) c.6186A= (p.Ser2062=) | |
2 | g.237336509G>A | CA351192028 | COL6A3 | c.1236C>T c.7973C>T (p.Ser2658Leu) c.718C>T n.858C>T c.8591C>T (p.Ser2864Leu) c.6767C>T (p.Ser2256Leu) c.6770C>T (p.Ser2257Leu) n.5033C>T c.7991C>T (p.Ser2664Leu) c.7370C>T (p.Ser2457Leu) c.8090C>T (p.Ser2697Leu) c.8588C>T (p.Ser2863Leu) c.6185C>T (p.Ser2062Leu) | |
2 | g.237336509G>C | CA351192029 | COL6A3 | c.1236C>G c.7973C>G (p.Ser2658Ter) c.718C>G n.858C>G c.8591C>G (p.Ser2864Ter) c.6767C>G (p.Ser2256Ter) c.6770C>G (p.Ser2257Ter) n.5033C>G c.7991C>G (p.Ser2664Ter) c.7370C>G (p.Ser2457Ter) c.8090C>G (p.Ser2697Ter) c.8588C>G (p.Ser2863Ter) c.6185C>G (p.Ser2062Ter) | |
2 | g.237336509G>T | CA351192030 | COL6A3 | c.1236C>A c.7973C>A (p.Ser2658Ter) c.718C>A n.858C>A c.8591C>A (p.Ser2864Ter) c.6767C>A (p.Ser2256Ter) c.6770C>A (p.Ser2257Ter) n.5033C>A c.7991C>A (p.Ser2664Ter) c.7370C>A (p.Ser2457Ter) c.8090C>A (p.Ser2697Ter) c.8588C>A (p.Ser2863Ter) c.6185C>A (p.Ser2062Ter) | |
2 | g.237336510A>C | CA351192031 | COL6A3 | c.1235T>G c.7972T>G (p.Ser2658Ala) c.717T>G n.857T>G c.8590T>G (p.Ser2864Ala) c.6766T>G (p.Ser2256Ala) c.6769T>G (p.Ser2257Ala) n.5032T>G c.7990T>G (p.Ser2664Ala) c.7369T>G (p.Ser2457Ala) c.8089T>G (p.Ser2697Ala) c.8587T>G (p.Ser2863Ala) c.6184T>G (p.Ser2062Ala) | gnomAD v4 |
2 | g.237336510A>G | CA351192032 | COL6A3 | c.1235T>C c.7972T>C (p.Ser2658Pro) c.717T>C n.857T>C c.8590T>C (p.Ser2864Pro) c.6766T>C (p.Ser2256Pro) c.6769T>C (p.Ser2257Pro) n.5032T>C c.7990T>C (p.Ser2664Pro) c.7369T>C (p.Ser2457Pro) c.8089T>C (p.Ser2697Pro) c.8587T>C (p.Ser2863Pro) c.6184T>C (p.Ser2062Pro) | |
2 | g.237336510A>T | CA351192033 | COL6A3 | c.1235T>A c.7972T>A (p.Ser2658Thr) c.717T>A n.857T>A c.8590T>A (p.Ser2864Thr) c.6766T>A (p.Ser2256Thr) c.6769T>A (p.Ser2257Thr) n.5032T>A c.7990T>A (p.Ser2664Thr) c.7369T>A (p.Ser2457Thr) c.8089T>A (p.Ser2697Thr) c.8587T>A (p.Ser2863Thr) c.6184T>A (p.Ser2062Thr) | |
2 | g.237336511A>C | CA431674932 | COL6A3 | c.1234T>G c.7971T>G (p.Thr2657=) c.716T>G n.856T>G c.8589T>G (p.Thr2863=) c.6765T>G (p.Thr2255=) c.6768T>G (p.Thr2256=) n.5031T>G c.7989T>G (p.Thr2663=) c.7368T>G (p.Thr2456=) c.8088T>G (p.Thr2696=) c.8586T>G (p.Thr2862=) c.6183T>G (p.Thr2061=) | |
2 | g.237336511A>G | CA431674933 | COL6A3 | c.1234T>C c.7971T>C (p.Thr2657=) c.716T>C n.856T>C c.8589T>C (p.Thr2863=) c.6765T>C (p.Thr2255=) c.6768T>C (p.Thr2256=) n.5031T>C c.7989T>C (p.Thr2663=) c.7368T>C (p.Thr2456=) c.8088T>C (p.Thr2696=) c.8586T>C (p.Thr2862=) c.6183T>C (p.Thr2061=) | |
2 | g.237336511A>T | CA431674934 | COL6A3 | c.1234T>A c.7971T>A (p.Thr2657=) c.716T>A n.856T>A c.8589T>A (p.Thr2863=) c.6765T>A (p.Thr2255=) c.6768T>A (p.Thr2256=) n.5031T>A c.7989T>A (p.Thr2663=) c.7368T>A (p.Thr2456=) c.8088T>A (p.Thr2696=) c.8586T>A (p.Thr2862=) c.6183T>A (p.Thr2061=) | |
2 | g.237336512G>A | CA351192036 | COL6A3 | c.1233C>T c.7970C>T (p.Thr2657Ile) c.715C>T n.855C>T c.8588C>T (p.Thr2863Ile) c.6764C>T (p.Thr2255Ile) c.6767C>T (p.Thr2256Ile) n.5030C>T c.7988C>T (p.Thr2663Ile) c.7367C>T (p.Thr2456Ile) c.8087C>T (p.Thr2696Ile) c.8585C>T (p.Thr2862Ile) c.6182C>T (p.Thr2061Ile) | ClinVar |
2 | g.237336512G>C | CA351192034 | COL6A3 | c.1233C>G c.7970C>G (p.Thr2657Ser) c.715C>G n.855C>G c.8588C>G (p.Thr2863Ser) c.6764C>G (p.Thr2255Ser) c.6767C>G (p.Thr2256Ser) n.5030C>G c.7988C>G (p.Thr2663Ser) c.7367C>G (p.Thr2456Ser) c.8087C>G (p.Thr2696Ser) c.8585C>G (p.Thr2862Ser) c.6182C>G (p.Thr2061Ser) | |
2 | g.237336512G= | CA1337607236 | COL6A3 | c.1233C= c.7970C= (p.Thr2657=) c.715C= n.855C= c.8588C= (p.Thr2863=) c.6764C= (p.Thr2255=) c.6767C= (p.Thr2256=) n.5030C= c.7988C= (p.Thr2663=) c.7367C= (p.Thr2456=) c.8087C= (p.Thr2696=) c.8585C= (p.Thr2862=) c.6182C= (p.Thr2061=) | |
2 | g.237336512G>T | CA351192035 | COL6A3 | c.1233C>A c.7970C>A (p.Thr2657Asn) c.715C>A n.855C>A c.8588C>A (p.Thr2863Asn) c.6764C>A (p.Thr2255Asn) c.6767C>A (p.Thr2256Asn) n.5030C>A c.7988C>A (p.Thr2663Asn) c.7367C>A (p.Thr2456Asn) c.8087C>A (p.Thr2696Asn) c.8585C>A (p.Thr2862Asn) c.6182C>A (p.Thr2061Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336513T>A | CA351192037 | COL6A3 | c.1232A>T c.7969A>T (p.Thr2657Ser) c.714A>T n.854A>T c.8587A>T (p.Thr2863Ser) c.6763A>T (p.Thr2255Ser) c.6766A>T (p.Thr2256Ser) n.5029A>T c.7987A>T (p.Thr2663Ser) c.7366A>T (p.Thr2456Ser) c.8086A>T (p.Thr2696Ser) c.8584A>T (p.Thr2862Ser) c.6181A>T (p.Thr2061Ser) | |
2 | g.237336513T>C | CA351192038 | COL6A3 | c.1232A>G c.7969A>G (p.Thr2657Ala) c.714A>G n.854A>G c.8587A>G (p.Thr2863Ala) c.6763A>G (p.Thr2255Ala) c.6766A>G (p.Thr2256Ala) n.5029A>G c.7987A>G (p.Thr2663Ala) c.7366A>G (p.Thr2456Ala) c.8086A>G (p.Thr2696Ala) c.8584A>G (p.Thr2862Ala) c.6181A>G (p.Thr2061Ala) | |
2 | g.237336513T>G | CA351192039 | COL6A3 | c.1232A>C c.7969A>C (p.Thr2657Pro) c.714A>C n.854A>C c.8587A>C (p.Thr2863Pro) c.6763A>C (p.Thr2255Pro) c.6766A>C (p.Thr2256Pro) n.5029A>C c.7987A>C (p.Thr2663Pro) c.7366A>C (p.Thr2456Pro) c.8086A>C (p.Thr2696Pro) c.8584A>C (p.Thr2862Pro) c.6181A>C (p.Thr2061Pro) | |
2 | g.237336514A>C | CA431674935 | COL6A3 | c.1231T>G c.7968T>G (p.Val2656=) c.713T>G n.853T>G c.8586T>G (p.Val2862=) c.6762T>G (p.Val2254=) c.6765T>G (p.Val2255=) n.5028T>G c.7986T>G (p.Val2662=) c.7365T>G (p.Val2455=) c.8085T>G (p.Val2695=) c.8583T>G (p.Val2861=) c.6180T>G (p.Val2060=) | |
2 | g.237336514A>G | CA431674937 | COL6A3 | c.1231T>C c.7968T>C (p.Val2656=) c.713T>C n.853T>C c.8586T>C (p.Val2862=) c.6762T>C (p.Val2254=) c.6765T>C (p.Val2255=) n.5028T>C c.7986T>C (p.Val2662=) c.7365T>C (p.Val2455=) c.8085T>C (p.Val2695=) c.8583T>C (p.Val2861=) c.6180T>C (p.Val2060=) | COSMIC |
2 | g.237336514A>T | CA431674936 | COL6A3 | c.1231T>A c.7968T>A (p.Val2656=) c.713T>A n.853T>A c.8586T>A (p.Val2862=) c.6762T>A (p.Val2254=) c.6765T>A (p.Val2255=) n.5028T>A c.7986T>A (p.Val2662=) c.7365T>A (p.Val2455=) c.8085T>A (p.Val2695=) c.8583T>A (p.Val2861=) c.6180T>A (p.Val2060=) | |
2 | g.237336515A>C | CA351192040 | COL6A3 | c.1230T>G c.7967T>G (p.Val2656Gly) c.712T>G n.852T>G c.8585T>G (p.Val2862Gly) c.6761T>G (p.Val2254Gly) c.6764T>G (p.Val2255Gly) n.5027T>G c.7985T>G (p.Val2662Gly) c.7364T>G (p.Val2455Gly) c.8084T>G (p.Val2695Gly) c.8582T>G (p.Val2861Gly) c.6179T>G (p.Val2060Gly) | |
2 | g.237336515A>G | CA351192041 | COL6A3 | c.1230T>C c.7967T>C (p.Val2656Ala) c.712T>C n.852T>C c.8585T>C (p.Val2862Ala) c.6761T>C (p.Val2254Ala) c.6764T>C (p.Val2255Ala) n.5027T>C c.7985T>C (p.Val2662Ala) c.7364T>C (p.Val2455Ala) c.8084T>C (p.Val2695Ala) c.8582T>C (p.Val2861Ala) c.6179T>C (p.Val2060Ala) | |
2 | g.237336515A>T | CA351192042 | COL6A3 | c.1230T>A c.7967T>A (p.Val2656Asp) c.712T>A n.852T>A c.8585T>A (p.Val2862Asp) c.6761T>A (p.Val2254Asp) c.6764T>A (p.Val2255Asp) n.5027T>A c.7985T>A (p.Val2662Asp) c.7364T>A (p.Val2455Asp) c.8084T>A (p.Val2695Asp) c.8582T>A (p.Val2861Asp) c.6179T>A (p.Val2060Asp) | |
2 | g.237336516C>A | CA351192043 | COL6A3 | c.1229G>T c.7966G>T (p.Val2656Phe) c.711G>T n.851G>T c.8584G>T (p.Val2862Phe) c.6760G>T (p.Val2254Phe) c.6763G>T (p.Val2255Phe) n.5026G>T c.7984G>T (p.Val2662Phe) c.7363G>T (p.Val2455Phe) c.8083G>T (p.Val2695Phe) c.8581G>T (p.Val2861Phe) c.6178G>T (p.Val2060Phe) | gnomAD v4 |
2 | g.237336516C= | CA1337607237 | COL6A3 | c.1229G= c.7966G= (p.Val2656=) c.711G= n.851G= c.8584G= (p.Val2862=) c.6760G= (p.Val2254=) c.6763G= (p.Val2255=) n.5026G= c.7984G= (p.Val2662=) c.7363G= (p.Val2455=) c.8083G= (p.Val2695=) c.8581G= (p.Val2861=) c.6178G= (p.Val2060=) | |
2 | g.237336516C>G | CA351192044 | COL6A3 | c.1229G>C c.7966G>C (p.Val2656Leu) c.711G>C n.851G>C c.8584G>C (p.Val2862Leu) c.6760G>C (p.Val2254Leu) c.6763G>C (p.Val2255Leu) n.5026G>C c.7984G>C (p.Val2662Leu) c.7363G>C (p.Val2455Leu) c.8083G>C (p.Val2695Leu) c.8581G>C (p.Val2861Leu) c.6178G>C (p.Val2060Leu) | |
2 | g.237336516C>T | CA2187494 | COL6A3 | c.1229G>A c.7966G>A (p.Val2656Ile) c.711G>A n.851G>A c.8584G>A (p.Val2862Ile) c.6760G>A (p.Val2254Ile) c.6763G>A (p.Val2255Ile) n.5026G>A c.7984G>A (p.Val2662Ile) c.7363G>A (p.Val2455Ile) c.8083G>A (p.Val2695Ile) c.8581G>A (p.Val2861Ile) c.6178G>A (p.Val2060Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336517G>A | CA2187495 | COL6A3 | c.1228C>T c.7965C>T (p.Asn2655=) c.710C>T n.850C>T c.8583C>T (p.Asn2861=) c.6759C>T (p.Asn2253=) c.6762C>T (p.Asn2254=) n.5025C>T c.7983C>T (p.Asn2661=) c.7362C>T (p.Asn2454=) c.8082C>T (p.Asn2694=) c.8580C>T (p.Asn2860=) c.6177C>T (p.Asn2059=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237336517G>C | CA351192045 | COL6A3 | c.1228C>G c.7965C>G (p.Asn2655Lys) c.710C>G n.850C>G c.8583C>G (p.Asn2861Lys) c.6759C>G (p.Asn2253Lys) c.6762C>G (p.Asn2254Lys) n.5025C>G c.7983C>G (p.Asn2661Lys) c.7362C>G (p.Asn2454Lys) c.8082C>G (p.Asn2694Lys) c.8580C>G (p.Asn2860Lys) c.6177C>G (p.Asn2059Lys) | |
2 | g.237336517G= | CA1337607238 | COL6A3 | c.1228C= c.7965C= (p.Asn2655=) c.710C= n.850C= c.8583C= (p.Asn2861=) c.6759C= (p.Asn2253=) c.6762C= (p.Asn2254=) n.5025C= c.7983C= (p.Asn2661=) c.7362C= (p.Asn2454=) c.8082C= (p.Asn2694=) c.8580C= (p.Asn2860=) c.6177C= (p.Asn2059=) | |
2 | g.237336517G>T | CA351192046 | COL6A3 | c.1228C>A c.7965C>A (p.Asn2655Lys) c.710C>A n.850C>A c.8583C>A (p.Asn2861Lys) c.6759C>A (p.Asn2253Lys) c.6762C>A (p.Asn2254Lys) n.5025C>A c.7983C>A (p.Asn2661Lys) c.7362C>A (p.Asn2454Lys) c.8082C>A (p.Asn2694Lys) c.8580C>A (p.Asn2860Lys) c.6177C>A (p.Asn2059Lys) | gnomAD v4 |
2 | g.237336518T>A | CA351192047 | COL6A3 | c.1227A>T c.7964A>T (p.Asn2655Ile) c.709A>T n.849A>T c.8582A>T (p.Asn2861Ile) c.6758A>T (p.Asn2253Ile) c.6761A>T (p.Asn2254Ile) n.5024A>T c.7982A>T (p.Asn2661Ile) c.7361A>T (p.Asn2454Ile) c.8081A>T (p.Asn2694Ile) c.8579A>T (p.Asn2860Ile) c.6176A>T (p.Asn2059Ile) | dbSNP |
2 | g.237336518T>C | CA351192049 | COL6A3 | c.1227A>G c.7964A>G (p.Asn2655Ser) c.709A>G n.849A>G c.8582A>G (p.Asn2861Ser) c.6758A>G (p.Asn2253Ser) c.6761A>G (p.Asn2254Ser) n.5024A>G c.7982A>G (p.Asn2661Ser) c.7361A>G (p.Asn2454Ser) c.8081A>G (p.Asn2694Ser) c.8579A>G (p.Asn2860Ser) c.6176A>G (p.Asn2059Ser) | |
2 | g.237336518T>G | CA351192048 | COL6A3 | c.1227A>C c.7964A>C (p.Asn2655Thr) c.709A>C n.849A>C c.8582A>C (p.Asn2861Thr) c.6758A>C (p.Asn2253Thr) c.6761A>C (p.Asn2254Thr) n.5024A>C c.7982A>C (p.Asn2661Thr) c.7361A>C (p.Asn2454Thr) c.8081A>C (p.Asn2694Thr) c.8579A>C (p.Asn2860Thr) c.6176A>C (p.Asn2059Thr) | |
2 | g.237336518T= | CA1337607239 | COL6A3 | c.1227A= c.7964A= (p.Asn2655=) c.709A= n.849A= c.8582A= (p.Asn2861=) c.6758A= (p.Asn2253=) c.6761A= (p.Asn2254=) n.5024A= c.7982A= (p.Asn2661=) c.7361A= (p.Asn2454=) c.8081A= (p.Asn2694=) c.8579A= (p.Asn2860=) c.6176A= (p.Asn2059=) | |
2 | g.237336519T>A | CA351192050 | COL6A3 | c.1226A>T c.7963A>T (p.Asn2655Tyr) c.708A>T n.848A>T c.8581A>T (p.Asn2861Tyr) c.6757A>T (p.Asn2253Tyr) c.6760A>T (p.Asn2254Tyr) n.5023A>T c.7981A>T (p.Asn2661Tyr) c.7360A>T (p.Asn2454Tyr) c.8080A>T (p.Asn2694Tyr) c.8578A>T (p.Asn2860Tyr) c.6175A>T (p.Asn2059Tyr) | |
2 | g.237336519T>C | CA351192051 | COL6A3 | c.1226A>G c.7963A>G (p.Asn2655Asp) c.708A>G n.848A>G c.8581A>G (p.Asn2861Asp) c.6757A>G (p.Asn2253Asp) c.6760A>G (p.Asn2254Asp) n.5023A>G c.7981A>G (p.Asn2661Asp) c.7360A>G (p.Asn2454Asp) c.8080A>G (p.Asn2694Asp) c.8578A>G (p.Asn2860Asp) c.6175A>G (p.Asn2059Asp) | gnomAD v4 |
2 | g.237336519T>G | CA351192052 | COL6A3 | c.1226A>C c.7963A>C (p.Asn2655His) c.708A>C n.848A>C c.8581A>C (p.Asn2861His) c.6757A>C (p.Asn2253His) c.6760A>C (p.Asn2254His) n.5023A>C c.7981A>C (p.Asn2661His) c.7360A>C (p.Asn2454His) c.8080A>C (p.Asn2694His) c.8578A>C (p.Asn2860His) c.6175A>C (p.Asn2059His) | |
2 | g.237336520A>C | CA351192053 | COL6A3 | c.1225T>G c.7962T>G (p.Asn2654Lys) c.707T>G n.847T>G c.8580T>G (p.Asn2860Lys) c.6756T>G (p.Asn2252Lys) c.6759T>G (p.Asn2253Lys) n.5022T>G c.7980T>G (p.Asn2660Lys) c.7359T>G (p.Asn2453Lys) c.8079T>G (p.Asn2693Lys) c.8577T>G (p.Asn2859Lys) c.6174T>G (p.Asn2058Lys) | |
2 | g.237336520A>G | CA431674938 | COL6A3 | c.1225T>C c.7962T>C (p.Asn2654=) c.707T>C n.847T>C c.8580T>C (p.Asn2860=) c.6756T>C (p.Asn2252=) c.6759T>C (p.Asn2253=) n.5022T>C c.7980T>C (p.Asn2660=) c.7359T>C (p.Asn2453=) c.8079T>C (p.Asn2693=) c.8577T>C (p.Asn2859=) c.6174T>C (p.Asn2058=) | COSMIC |
2 | g.237336520A>T | CA351192054 | COL6A3 | c.1225T>A c.7962T>A (p.Asn2654Lys) c.707T>A n.847T>A c.8580T>A (p.Asn2860Lys) c.6756T>A (p.Asn2252Lys) c.6759T>A (p.Asn2253Lys) n.5022T>A c.7980T>A (p.Asn2660Lys) c.7359T>A (p.Asn2453Lys) c.8079T>A (p.Asn2693Lys) c.8577T>A (p.Asn2859Lys) c.6174T>A (p.Asn2058Lys) | |
2 | g.237336521T>A | CA351192055 | COL6A3 | c.1224A>T c.7961A>T (p.Asn2654Ile) c.706A>T n.846A>T c.8579A>T (p.Asn2860Ile) c.6755A>T (p.Asn2252Ile) c.6758A>T (p.Asn2253Ile) n.5021A>T c.7979A>T (p.Asn2660Ile) c.7358A>T (p.Asn2453Ile) c.8078A>T (p.Asn2693Ile) c.8576A>T (p.Asn2859Ile) c.6173A>T (p.Asn2058Ile) | |
2 | g.237336521T>C | CA67830779 | COL6A3 | c.1224A>G c.7961A>G (p.Asn2654Ser) c.706A>G n.846A>G c.8579A>G (p.Asn2860Ser) c.6755A>G (p.Asn2252Ser) c.6758A>G (p.Asn2253Ser) n.5021A>G c.7979A>G (p.Asn2660Ser) c.7358A>G (p.Asn2453Ser) c.8078A>G (p.Asn2693Ser) c.8576A>G (p.Asn2859Ser) c.6173A>G (p.Asn2058Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336521T>G | CA351192056 | COL6A3 | c.1224A>C c.7961A>C (p.Asn2654Thr) c.706A>C n.846A>C c.8579A>C (p.Asn2860Thr) c.6755A>C (p.Asn2252Thr) c.6758A>C (p.Asn2253Thr) n.5021A>C c.7979A>C (p.Asn2660Thr) c.7358A>C (p.Asn2453Thr) c.8078A>C (p.Asn2693Thr) c.8576A>C (p.Asn2859Thr) c.6173A>C (p.Asn2058Thr) | |
2 | g.237336521T= | CA1337607240 | COL6A3 | c.1224A= c.7961A= (p.Asn2654=) c.706A= n.846A= c.8579A= (p.Asn2860=) c.6755A= (p.Asn2252=) c.6758A= (p.Asn2253=) n.5021A= c.7979A= (p.Asn2660=) c.7358A= (p.Asn2453=) c.8078A= (p.Asn2693=) c.8576A= (p.Asn2859=) c.6173A= (p.Asn2058=) | |
2 | g.237336522T>A | CA351192057 | COL6A3 | c.1223A>T c.7960A>T (p.Asn2654Tyr) c.705A>T n.845A>T c.8578A>T (p.Asn2860Tyr) c.6754A>T (p.Asn2252Tyr) c.6757A>T (p.Asn2253Tyr) n.5020A>T c.7978A>T (p.Asn2660Tyr) c.7357A>T (p.Asn2453Tyr) c.8077A>T (p.Asn2693Tyr) c.8575A>T (p.Asn2859Tyr) c.6172A>T (p.Asn2058Tyr) | |
2 | g.237336522T>C | CA351192058 | COL6A3 | c.1223A>G c.7960A>G (p.Asn2654Asp) c.705A>G n.845A>G c.8578A>G (p.Asn2860Asp) c.6754A>G (p.Asn2252Asp) c.6757A>G (p.Asn2253Asp) n.5020A>G c.7978A>G (p.Asn2660Asp) c.7357A>G (p.Asn2453Asp) c.8077A>G (p.Asn2693Asp) c.8575A>G (p.Asn2859Asp) c.6172A>G (p.Asn2058Asp) | dbSNP gnomAD v2 |
2 | g.237336522T>G | CA351192059 | COL6A3 | c.1223A>C c.7960A>C (p.Asn2654His) c.705A>C n.845A>C c.8578A>C (p.Asn2860His) c.6754A>C (p.Asn2252His) c.6757A>C (p.Asn2253His) n.5020A>C c.7978A>C (p.Asn2660His) c.7357A>C (p.Asn2453His) c.8077A>C (p.Asn2693His) c.8575A>C (p.Asn2859His) c.6172A>C (p.Asn2058His) | |
2 | g.237336522T= | CA1337607241 | COL6A3 | c.1223A= c.7960A= (p.Asn2654=) c.705A= n.845A= c.8578A= (p.Asn2860=) c.6754A= (p.Asn2252=) c.6757A= (p.Asn2253=) n.5020A= c.7978A= (p.Asn2660=) c.7357A= (p.Asn2453=) c.8077A= (p.Asn2693=) c.8575A= (p.Asn2859=) c.6172A= (p.Asn2058=) | |
2 | g.237336523C>A | CA431674939 | COL6A3 | c.1222G>T c.7959G>T (p.Pro2653=) c.704G>T n.844G>T c.8577G>T (p.Pro2859=) c.6753G>T (p.Pro2251=) c.6756G>T (p.Pro2252=) n.5019G>T c.7977G>T (p.Pro2659=) c.7356G>T (p.Pro2452=) c.8076G>T (p.Pro2692=) c.8574G>T (p.Pro2858=) c.6171G>T (p.Pro2057=) | |
2 | g.237336523C= | CA1337607242 | COL6A3 | c.1222G= c.7959G= (p.Pro2653=) c.704G= n.844G= c.8577G= (p.Pro2859=) c.6753G= (p.Pro2251=) c.6756G= (p.Pro2252=) n.5019G= c.7977G= (p.Pro2659=) c.7356G= (p.Pro2452=) c.8076G= (p.Pro2692=) c.8574G= (p.Pro2858=) c.6171G= (p.Pro2057=) | |
2 | g.237336523C>G | CA431674940 | COL6A3 | c.1222G>C c.7959G>C (p.Pro2653=) c.704G>C n.844G>C c.8577G>C (p.Pro2859=) c.6753G>C (p.Pro2251=) c.6756G>C (p.Pro2252=) n.5019G>C c.7977G>C (p.Pro2659=) c.7356G>C (p.Pro2452=) c.8076G>C (p.Pro2692=) c.8574G>C (p.Pro2858=) c.6171G>C (p.Pro2057=) | |
2 | g.237336523C>T | CA431674941 | COL6A3 | c.1222G>A c.7959G>A (p.Pro2653=) c.704G>A n.844G>A c.8577G>A (p.Pro2859=) c.6753G>A (p.Pro2251=) c.6756G>A (p.Pro2252=) n.5019G>A c.7977G>A (p.Pro2659=) c.7356G>A (p.Pro2452=) c.8076G>A (p.Pro2692=) c.8574G>A (p.Pro2858=) c.6171G>A (p.Pro2057=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336524G>A | CA67830780 | COL6A3 | c.1221C>T c.7958C>T (p.Pro2653Leu) c.703C>T n.843C>T c.8576C>T (p.Pro2859Leu) c.6752C>T (p.Pro2251Leu) c.6755C>T (p.Pro2252Leu) n.5018C>T c.7976C>T (p.Pro2659Leu) c.7355C>T (p.Pro2452Leu) c.8075C>T (p.Pro2692Leu) c.8573C>T (p.Pro2858Leu) c.6170C>T (p.Pro2057Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336524G>C | CA351192061 | COL6A3 | c.1221C>G c.7958C>G (p.Pro2653Arg) c.703C>G n.843C>G c.8576C>G (p.Pro2859Arg) c.6752C>G (p.Pro2251Arg) c.6755C>G (p.Pro2252Arg) n.5018C>G c.7976C>G (p.Pro2659Arg) c.7355C>G (p.Pro2452Arg) c.8075C>G (p.Pro2692Arg) c.8573C>G (p.Pro2858Arg) c.6170C>G (p.Pro2057Arg) | |
2 | g.237336524G= | CA1337607243 | COL6A3 | c.1221C= c.7958C= (p.Pro2653=) c.703C= n.843C= c.8576C= (p.Pro2859=) c.6752C= (p.Pro2251=) c.6755C= (p.Pro2252=) n.5018C= c.7976C= (p.Pro2659=) c.7355C= (p.Pro2452=) c.8075C= (p.Pro2692=) c.8573C= (p.Pro2858=) c.6170C= (p.Pro2057=) | |
2 | g.237336524G>T | CA351192060 | COL6A3 | c.1221C>A c.7958C>A (p.Pro2653Gln) c.703C>A n.843C>A c.8576C>A (p.Pro2859Gln) c.6752C>A (p.Pro2251Gln) c.6755C>A (p.Pro2252Gln) n.5018C>A c.7976C>A (p.Pro2659Gln) c.7355C>A (p.Pro2452Gln) c.8075C>A (p.Pro2692Gln) c.8573C>A (p.Pro2858Gln) c.6170C>A (p.Pro2057Gln) | |
2 | g.237336525G>A | CA351192062 | COL6A3 | c.1220C>T c.7957C>T (p.Pro2653Ser) c.702C>T n.842C>T c.8575C>T (p.Pro2859Ser) c.6751C>T (p.Pro2251Ser) c.6754C>T (p.Pro2252Ser) n.5017C>T c.7975C>T (p.Pro2659Ser) c.7354C>T (p.Pro2452Ser) c.8074C>T (p.Pro2692Ser) c.8572C>T (p.Pro2858Ser) c.6169C>T (p.Pro2057Ser) | COSMIC |
2 | g.237336525G>C | CA351192063 | COL6A3 | c.1220C>G c.7957C>G (p.Pro2653Ala) c.702C>G n.842C>G c.8575C>G (p.Pro2859Ala) c.6751C>G (p.Pro2251Ala) c.6754C>G (p.Pro2252Ala) n.5017C>G c.7975C>G (p.Pro2659Ala) c.7354C>G (p.Pro2452Ala) c.8074C>G (p.Pro2692Ala) c.8572C>G (p.Pro2858Ala) c.6169C>G (p.Pro2057Ala) | |
2 | g.237336525G= | CA1337607245 | COL6A3 | c.1220C= c.7957C= (p.Pro2653=) c.702C= n.842C= c.8575C= (p.Pro2859=) c.6751C= (p.Pro2251=) c.6754C= (p.Pro2252=) n.5017C= c.7975C= (p.Pro2659=) c.7354C= (p.Pro2452=) c.8074C= (p.Pro2692=) c.8572C= (p.Pro2858=) c.6169C= (p.Pro2057=) | |
2 | g.237336525G>T | CA10604425 | COL6A3 | c.1220C>A c.7957C>A (p.Pro2653Thr) c.702C>A n.842C>A c.8575C>A (p.Pro2859Thr) c.6751C>A (p.Pro2251Thr) c.6754C>A (p.Pro2252Thr) n.5017C>A c.7975C>A (p.Pro2659Thr) c.7354C>A (p.Pro2452Thr) c.8074C>A (p.Pro2692Thr) c.8572C>A (p.Pro2858Thr) c.6169C>A (p.Pro2057Thr) | ClinVar dbSNP |
2 | g.237336526A= | CA1337607250 | COL6A3 | c.1219T= c.7956T= (p.Val2652=) c.701T= n.841T= c.8574T= (p.Val2858=) c.6750T= (p.Val2250=) c.6753T= (p.Val2251=) n.5016T= c.7974T= (p.Val2658=) c.7353T= (p.Val2451=) c.8073T= (p.Val2691=) c.8571T= (p.Val2857=) c.6168T= (p.Val2056=) | |
2 | g.237336526A>C | CA431674942 | COL6A3 | c.1219T>G c.7956T>G (p.Val2652=) c.701T>G n.841T>G c.8574T>G (p.Val2858=) c.6750T>G (p.Val2250=) c.6753T>G (p.Val2251=) n.5016T>G c.7974T>G (p.Val2658=) c.7353T>G (p.Val2451=) c.8073T>G (p.Val2691=) c.8571T>G (p.Val2857=) c.6168T>G (p.Val2056=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336526A>G | CA431674944 | COL6A3 | c.1219T>C c.7956T>C (p.Val2652=) c.701T>C n.841T>C c.8574T>C (p.Val2858=) c.6750T>C (p.Val2250=) c.6753T>C (p.Val2251=) n.5016T>C c.7974T>C (p.Val2658=) c.7353T>C (p.Val2451=) c.8073T>C (p.Val2691=) c.8571T>C (p.Val2857=) c.6168T>C (p.Val2056=) | |
2 | g.237336526A>T | CA431674943 | COL6A3 | c.1219T>A c.7956T>A (p.Val2652=) c.701T>A n.841T>A c.8574T>A (p.Val2858=) c.6750T>A (p.Val2250=) c.6753T>A (p.Val2251=) n.5016T>A c.7974T>A (p.Val2658=) c.7353T>A (p.Val2451=) c.8073T>A (p.Val2691=) c.8571T>A (p.Val2857=) c.6168T>A (p.Val2056=) | gnomAD v4 |
2 | g.237336527A>C | CA351192064 | COL6A3 | c.1218T>G c.7955T>G (p.Val2652Gly) c.700T>G n.840T>G c.8573T>G (p.Val2858Gly) c.6749T>G (p.Val2250Gly) c.6752T>G (p.Val2251Gly) n.5015T>G c.7973T>G (p.Val2658Gly) c.7352T>G (p.Val2451Gly) c.8072T>G (p.Val2691Gly) c.8570T>G (p.Val2857Gly) c.6167T>G (p.Val2056Gly) | |
2 | g.237336527A>G | CA351192065 | COL6A3 | c.1218T>C c.7955T>C (p.Val2652Ala) c.700T>C n.840T>C c.8573T>C (p.Val2858Ala) c.6749T>C (p.Val2250Ala) c.6752T>C (p.Val2251Ala) n.5015T>C c.7973T>C (p.Val2658Ala) c.7352T>C (p.Val2451Ala) c.8072T>C (p.Val2691Ala) c.8570T>C (p.Val2857Ala) c.6167T>C (p.Val2056Ala) | |
2 | g.237336527A>T | CA351192066 | COL6A3 | c.1218T>A c.7955T>A (p.Val2652Asp) c.700T>A n.840T>A c.8573T>A (p.Val2858Asp) c.6749T>A (p.Val2250Asp) c.6752T>A (p.Val2251Asp) n.5015T>A c.7973T>A (p.Val2658Asp) c.7352T>A (p.Val2451Asp) c.8072T>A (p.Val2691Asp) c.8570T>A (p.Val2857Asp) c.6167T>A (p.Val2056Asp) | |
2 | g.237336528C>A | CA351192067 | COL6A3 | c.1217G>T c.7954G>T (p.Val2652Phe) c.699G>T n.839G>T c.8572G>T (p.Val2858Phe) c.6748G>T (p.Val2250Phe) c.6751G>T (p.Val2251Phe) n.5014G>T c.7972G>T (p.Val2658Phe) c.7351G>T (p.Val2451Phe) c.8071G>T (p.Val2691Phe) c.8569G>T (p.Val2857Phe) c.6166G>T (p.Val2056Phe) | |
2 | g.237336528C= | CA1337607254 | COL6A3 | c.1217G= c.7954G= (p.Val2652=) c.699G= n.839G= c.8572G= (p.Val2858=) c.6748G= (p.Val2250=) c.6751G= (p.Val2251=) n.5014G= c.7972G= (p.Val2658=) c.7351G= (p.Val2451=) c.8071G= (p.Val2691=) c.8569G= (p.Val2857=) c.6166G= (p.Val2056=) | |
2 | g.237336528C>G | CA351192068 | COL6A3 | c.1217G>C c.7954G>C (p.Val2652Leu) c.699G>C n.839G>C c.8572G>C (p.Val2858Leu) c.6748G>C (p.Val2250Leu) c.6751G>C (p.Val2251Leu) n.5014G>C c.7972G>C (p.Val2658Leu) c.7351G>C (p.Val2451Leu) c.8071G>C (p.Val2691Leu) c.8569G>C (p.Val2857Leu) c.6166G>C (p.Val2056Leu) | |
2 | g.237336528C>T | CA202881 | COL6A3 | c.1217G>A c.7954G>A (p.Val2652Ile) c.699G>A n.839G>A c.8572G>A (p.Val2858Ile) c.6748G>A (p.Val2250Ile) c.6751G>A (p.Val2251Ile) n.5014G>A c.7972G>A (p.Val2658Ile) c.7351G>A (p.Val2451Ile) c.8071G>A (p.Val2691Ile) c.8569G>A (p.Val2857Ile) c.6166G>A (p.Val2056Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336529A= | CA1337607256 | COL6A3 | c.1216T= c.7953T= (p.Asn2651=) c.698T= n.838T= c.8571T= (p.Asn2857=) c.6747T= (p.Asn2249=) c.6750T= (p.Asn2250=) n.5013T= c.7971T= (p.Asn2657=) c.7350T= (p.Asn2450=) c.8070T= (p.Asn2690=) c.8568T= (p.Asn2856=) c.6165T= (p.Asn2055=) | |
2 | g.237336529A>C | CA351192069 | COL6A3 | c.1216T>G c.7953T>G (p.Asn2651Lys) c.698T>G n.838T>G c.8571T>G (p.Asn2857Lys) c.6747T>G (p.Asn2249Lys) c.6750T>G (p.Asn2250Lys) n.5013T>G c.7971T>G (p.Asn2657Lys) c.7350T>G (p.Asn2450Lys) c.8070T>G (p.Asn2690Lys) c.8568T>G (p.Asn2856Lys) c.6165T>G (p.Asn2055Lys) | |
2 | g.237336529A>G | CA431674947 | COL6A3 | c.1216T>C c.7953T>C (p.Asn2651=) c.698T>C n.838T>C c.8571T>C (p.Asn2857=) c.6747T>C (p.Asn2249=) c.6750T>C (p.Asn2250=) n.5013T>C c.7971T>C (p.Asn2657=) c.7350T>C (p.Asn2450=) c.8070T>C (p.Asn2690=) c.8568T>C (p.Asn2856=) c.6165T>C (p.Asn2055=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336529A>T | CA351192070 | COL6A3 | c.1216T>A c.7953T>A (p.Asn2651Lys) c.698T>A n.838T>A c.8571T>A (p.Asn2857Lys) c.6747T>A (p.Asn2249Lys) c.6750T>A (p.Asn2250Lys) n.5013T>A c.7971T>A (p.Asn2657Lys) c.7350T>A (p.Asn2450Lys) c.8070T>A (p.Asn2690Lys) c.8568T>A (p.Asn2856Lys) c.6165T>A (p.Asn2055Lys) | dbSNP |
2 | g.237336530T>A | CA351192073 | COL6A3 | c.1215A>T c.7952A>T (p.Asn2651Ile) c.697A>T n.837A>T c.8570A>T (p.Asn2857Ile) c.6746A>T (p.Asn2249Ile) c.6749A>T (p.Asn2250Ile) n.5012A>T c.7970A>T (p.Asn2657Ile) c.7349A>T (p.Asn2450Ile) c.8069A>T (p.Asn2690Ile) c.8567A>T (p.Asn2856Ile) c.6164A>T (p.Asn2055Ile) | |
2 | g.237336530T>C | CA351192072 | COL6A3 | c.1215A>G c.7952A>G (p.Asn2651Ser) c.697A>G n.837A>G c.8570A>G (p.Asn2857Ser) c.6746A>G (p.Asn2249Ser) c.6749A>G (p.Asn2250Ser) n.5012A>G c.7970A>G (p.Asn2657Ser) c.7349A>G (p.Asn2450Ser) c.8069A>G (p.Asn2690Ser) c.8567A>G (p.Asn2856Ser) c.6164A>G (p.Asn2055Ser) | gnomAD v4 |
2 | g.237336530T>G | CA351192071 | COL6A3 | c.1215A>C c.7952A>C (p.Asn2651Thr) c.697A>C n.837A>C c.8570A>C (p.Asn2857Thr) c.6746A>C (p.Asn2249Thr) c.6749A>C (p.Asn2250Thr) n.5012A>C c.7970A>C (p.Asn2657Thr) c.7349A>C (p.Asn2450Thr) c.8069A>C (p.Asn2690Thr) c.8567A>C (p.Asn2856Thr) c.6164A>C (p.Asn2055Thr) | |
2 | g.237336531T>A | CA351192075 | COL6A3 | c.1214A>T c.7951A>T (p.Asn2651Tyr) c.696A>T n.836A>T c.8569A>T (p.Asn2857Tyr) c.6745A>T (p.Asn2249Tyr) c.6748A>T (p.Asn2250Tyr) n.5011A>T c.7969A>T (p.Asn2657Tyr) c.7348A>T (p.Asn2450Tyr) c.8068A>T (p.Asn2690Tyr) c.8566A>T (p.Asn2856Tyr) c.6163A>T (p.Asn2055Tyr) | |
2 | g.237336531T>C | CA351192079 | COL6A3 | c.1214A>G c.7951A>G (p.Asn2651Asp) c.696A>G n.836A>G c.8569A>G (p.Asn2857Asp) c.6745A>G (p.Asn2249Asp) c.6748A>G (p.Asn2250Asp) n.5011A>G c.7969A>G (p.Asn2657Asp) c.7348A>G (p.Asn2450Asp) c.8068A>G (p.Asn2690Asp) c.8566A>G (p.Asn2856Asp) c.6163A>G (p.Asn2055Asp) | |
2 | g.237336531T>G | CA351192077 | COL6A3 | c.1214A>C c.7951A>C (p.Asn2651His) c.696A>C n.836A>C c.8569A>C (p.Asn2857His) c.6745A>C (p.Asn2249His) c.6748A>C (p.Asn2250His) n.5011A>C c.7969A>C (p.Asn2657His) c.7348A>C (p.Asn2450His) c.8068A>C (p.Asn2690His) c.8566A>C (p.Asn2856His) c.6163A>C (p.Asn2055His) | |
2 | g.237336532T>A | CA431674948 | COL6A3 | c.1213A>T c.7950A>T (p.Val2650=) c.695A>T n.835A>T c.8568A>T (p.Val2856=) c.6744A>T (p.Val2248=) c.6747A>T (p.Val2249=) n.5010A>T c.7968A>T (p.Val2656=) c.7347A>T (p.Val2449=) c.8067A>T (p.Val2689=) c.8565A>T (p.Val2855=) c.6162A>T (p.Val2054=) | |
2 | g.237336532T>C | CA431674949 | COL6A3 | c.1213A>G c.7950A>G (p.Val2650=) c.695A>G n.835A>G c.8568A>G (p.Val2856=) c.6744A>G (p.Val2248=) c.6747A>G (p.Val2249=) n.5010A>G c.7968A>G (p.Val2656=) c.7347A>G (p.Val2449=) c.8067A>G (p.Val2689=) c.8565A>G (p.Val2855=) c.6162A>G (p.Val2054=) | |
2 | g.237336532T>G | CA431674950 | COL6A3 | c.1213A>C c.7950A>C (p.Val2650=) c.695A>C n.835A>C c.8568A>C (p.Val2856=) c.6744A>C (p.Val2248=) c.6747A>C (p.Val2249=) n.5010A>C c.7968A>C (p.Val2656=) c.7347A>C (p.Val2449=) c.8067A>C (p.Val2689=) c.8565A>C (p.Val2855=) c.6162A>C (p.Val2054=) | |
2 | g.237336533C>A | CA351192083 | COL6A3 | c.1213-1G>T c.7950-1G>T (n.7950-1G>T) c.695-1G>T n.835-1G>T c.8568-1G>T (n.8568-1G>T) c.6744-1G>T (n.6744-1G>T) c.6747-1G>T (n.6747-1G>T) n.5010-1G>T c.7968-1G>T (n.7968-1G>T) c.7347-1G>T (n.7347-1G>T) c.8067-1G>T (n.8067-1G>T) c.8565-1G>T (n.8565-1G>T) c.6162-1G>T (n.6162-1G>T) | |
2 | g.237336533C>G | CA351192085 | COL6A3 | c.1213-1G>C c.7950-1G>C (n.7950-1G>C) c.695-1G>C n.835-1G>C c.8568-1G>C (n.8568-1G>C) c.6744-1G>C (n.6744-1G>C) c.6747-1G>C (n.6747-1G>C) n.5010-1G>C c.7968-1G>C (n.7968-1G>C) c.7347-1G>C (n.7347-1G>C) c.8067-1G>C (n.8067-1G>C) c.8565-1G>C (n.8565-1G>C) c.6162-1G>C (n.6162-1G>C) | |
2 | g.237336533C>T | CA351192086 | COL6A3 | c.1213-1G>A c.7950-1G>A (n.7950-1G>A) c.695-1G>A n.835-1G>A c.8568-1G>A (n.8568-1G>A) c.6744-1G>A (n.6744-1G>A) c.6747-1G>A (n.6747-1G>A) n.5010-1G>A c.7968-1G>A (n.7968-1G>A) c.7347-1G>A (n.7347-1G>A) c.8067-1G>A (n.8067-1G>A) c.8565-1G>A (n.8565-1G>A) c.6162-1G>A (n.6162-1G>A) | COSMIC |
2 | g.237336534T>A | CA351192087 | COL6A3 | c.1213-2A>T c.7950-2A>T (n.7950-2A>T) c.695-2A>T n.835-2A>T c.8568-2A>T (n.8568-2A>T) c.6744-2A>T (n.6744-2A>T) c.6747-2A>T (n.6747-2A>T) n.5010-2A>T c.7968-2A>T (n.7968-2A>T) c.7347-2A>T (n.7347-2A>T) c.8067-2A>T (n.8067-2A>T) c.8565-2A>T (n.8565-2A>T) c.6162-2A>T (n.6162-2A>T) | |
2 | g.237336534T>C | CA351192089 | COL6A3 | c.1213-2A>G c.7950-2A>G (n.7950-2A>G) c.695-2A>G n.835-2A>G c.8568-2A>G (n.8568-2A>G) c.6744-2A>G (n.6744-2A>G) c.6747-2A>G (n.6747-2A>G) n.5010-2A>G c.7968-2A>G (n.7968-2A>G) c.7347-2A>G (n.7347-2A>G) c.8067-2A>G (n.8067-2A>G) c.8565-2A>G (n.8565-2A>G) c.6162-2A>G (n.6162-2A>G) | |
2 | g.237336534T>G | CA351192090 | COL6A3 | c.1213-2A>C c.7950-2A>C (n.7950-2A>C) c.695-2A>C n.835-2A>C c.8568-2A>C (n.8568-2A>C) c.6744-2A>C (n.6744-2A>C) c.6747-2A>C (n.6747-2A>C) n.5010-2A>C c.7968-2A>C (n.7968-2A>C) c.7347-2A>C (n.7347-2A>C) c.8067-2A>C (n.8067-2A>C) c.8565-2A>C (n.8565-2A>C) c.6162-2A>C (n.6162-2A>C) | gnomAD v4 |
2 | g.237336535G= | CA1337607257 | COL6A3 | c.1213-3C= c.7950-3C= (n.7950-3C=) c.695-3C= n.835-3C= c.8568-3C= (n.8568-3C=) c.6744-3C= (n.6744-3C=) c.6747-3C= (n.6747-3C=) n.5010-3C= c.7968-3C= (n.7968-3C=) c.7347-3C= (n.7347-3C=) c.8067-3C= (n.8067-3C=) c.8565-3C= (n.8565-3C=) c.6162-3C= (n.6162-3C=) | |
2 | g.237336535G>T | CA1337607258 | COL6A3 | c.1213-3C>A c.7950-3C>A (n.7950-3C>A) c.695-3C>A n.835-3C>A c.8568-3C>A (n.8568-3C>A) c.6744-3C>A (n.6744-3C>A) c.6747-3C>A (n.6747-3C>A) n.5010-3C>A c.7968-3C>A (n.7968-3C>A) c.7347-3C>A (n.7347-3C>A) c.8067-3C>A (n.8067-3C>A) c.8565-3C>A (n.8565-3C>A) c.6162-3C>A (n.6162-3C>A) | dbSNP |
2 | g.237336540G>A | CA1043806677 | COL6A3 | c.1213-8C>T c.7950-8C>T (n.7950-8C>T) c.695-8C>T n.835-8C>T c.8568-8C>T (n.8568-8C>T) c.6744-8C>T (n.6744-8C>T) c.6747-8C>T (n.6747-8C>T) n.5010-8C>T c.7968-8C>T (n.7968-8C>T) c.7347-8C>T (n.7347-8C>T) c.8067-8C>T (n.8067-8C>T) c.8565-8C>T (n.8565-8C>T) c.6162-8C>T (n.6162-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336540G= | CA1337607259 | COL6A3 | c.1213-8C= c.7950-8C= (n.7950-8C=) c.695-8C= n.835-8C= c.8568-8C= (n.8568-8C=) c.6744-8C= (n.6744-8C=) c.6747-8C= (n.6747-8C=) n.5010-8C= c.7968-8C= (n.7968-8C=) c.7347-8C= (n.7347-8C=) c.8067-8C= (n.8067-8C=) c.8565-8C= (n.8565-8C=) c.6162-8C= (n.6162-8C=) | |
2 | g.237336541A= | CA1337607261 | COL6A3 | c.1213-9T= c.7950-9T= (n.7950-9T=) c.695-9T= n.835-9T= c.8568-9T= (n.8568-9T=) c.6744-9T= (n.6744-9T=) c.6747-9T= (n.6747-9T=) n.5010-9T= c.7968-9T= (n.7968-9T=) c.7347-9T= (n.7347-9T=) c.8067-9T= (n.8067-9T=) c.8565-9T= (n.8565-9T=) c.6162-9T= (n.6162-9T=) | |
2 | g.237336541A>G | CA766623632 | COL6A3 | c.1213-9T>C c.7950-9T>C (n.7950-9T>C) c.695-9T>C n.835-9T>C c.8568-9T>C (n.8568-9T>C) c.6744-9T>C (n.6744-9T>C) c.6747-9T>C (n.6747-9T>C) n.5010-9T>C c.7968-9T>C (n.7968-9T>C) c.7347-9T>C (n.7347-9T>C) c.8067-9T>C (n.8067-9T>C) c.8565-9T>C (n.8565-9T>C) c.6162-9T>C (n.6162-9T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336542C>A | CA1337607265 | COL6A3 | c.1213-10G>T c.7950-10G>T (n.7950-10G>T) c.695-10G>T n.835-10G>T c.8568-10G>T (n.8568-10G>T) c.6744-10G>T (n.6744-10G>T) c.6747-10G>T (n.6747-10G>T) n.5010-10G>T c.7968-10G>T (n.7968-10G>T) c.7347-10G>T (n.7347-10G>T) c.8067-10G>T (n.8067-10G>T) c.8565-10G>T (n.8565-10G>T) c.6162-10G>T (n.6162-10G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.237336542C= | CA1337607264 | COL6A3 | c.1213-10G= c.7950-10G= (n.7950-10G=) c.695-10G= n.835-10G= c.8568-10G= (n.8568-10G=) c.6744-10G= (n.6744-10G=) c.6747-10G= (n.6747-10G=) n.5010-10G= c.7968-10G= (n.7968-10G=) c.7347-10G= (n.7347-10G=) c.8067-10G= (n.8067-10G=) c.8565-10G= (n.8565-10G=) c.6162-10G= (n.6162-10G=) | |
2 | g.237336542C>G | CA2663791461 | COL6A3 | c.1213-10G>C c.7950-10G>C (n.7950-10G>C) c.695-10G>C n.835-10G>C c.8568-10G>C (n.8568-10G>C) c.6744-10G>C (n.6744-10G>C) c.6747-10G>C (n.6747-10G>C) n.5010-10G>C c.7968-10G>C (n.7968-10G>C) c.7347-10G>C (n.7347-10G>C) c.8067-10G>C (n.8067-10G>C) c.8565-10G>C (n.8565-10G>C) c.6162-10G>C (n.6162-10G>C) | ClinVar gnomAD v4 |
2 | g.237336542C>T | CA67830787 | COL6A3 | c.1213-10G>A c.7950-10G>A (n.7950-10G>A) c.695-10G>A n.835-10G>A c.8568-10G>A (n.8568-10G>A) c.6744-10G>A (n.6744-10G>A) c.6747-10G>A (n.6747-10G>A) n.5010-10G>A c.7968-10G>A (n.7968-10G>A) c.7347-10G>A (n.7347-10G>A) c.8067-10G>A (n.8067-10G>A) c.8565-10G>A (n.8565-10G>A) c.6162-10G>A (n.6162-10G>A) | dbSNP |
2 | g.237336544A= | CA1337607267 | COL6A3 | c.1213-12T= c.7950-12T= (n.7950-12T=) c.695-12T= n.835-12T= c.8568-12T= (n.8568-12T=) c.6744-12T= (n.6744-12T=) c.6747-12T= (n.6747-12T=) n.5010-12T= c.7968-12T= (n.7968-12T=) c.7347-12T= (n.7347-12T=) c.8067-12T= (n.8067-12T=) c.8565-12T= (n.8565-12T=) c.6162-12T= (n.6162-12T=) | |
2 | g.237336544A>G | CA540461130 | COL6A3 | c.1213-12T>C c.7950-12T>C (n.7950-12T>C) c.695-12T>C n.835-12T>C c.8568-12T>C (n.8568-12T>C) c.6744-12T>C (n.6744-12T>C) c.6747-12T>C (n.6747-12T>C) n.5010-12T>C c.7968-12T>C (n.7968-12T>C) c.7347-12T>C (n.7347-12T>C) c.8067-12T>C (n.8067-12T>C) c.8565-12T>C (n.8565-12T>C) c.6162-12T>C (n.6162-12T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336544A>T | CA67830789 | COL6A3 | c.1213-12T>A c.7950-12T>A (n.7950-12T>A) c.695-12T>A n.835-12T>A c.8568-12T>A (n.8568-12T>A) c.6744-12T>A (n.6744-12T>A) c.6747-12T>A (n.6747-12T>A) n.5010-12T>A c.7968-12T>A (n.7968-12T>A) c.7347-12T>A (n.7347-12T>A) c.8067-12T>A (n.8067-12T>A) c.8565-12T>A (n.8565-12T>A) c.6162-12T>A (n.6162-12T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336546T>C | CA540461131 | COL6A3 | c.1213-14A>G c.7950-14A>G (n.7950-14A>G) c.695-14A>G n.835-14A>G c.8568-14A>G (n.8568-14A>G) c.6744-14A>G (n.6744-14A>G) c.6747-14A>G (n.6747-14A>G) n.5010-14A>G c.7968-14A>G (n.7968-14A>G) c.7347-14A>G (n.7347-14A>G) c.8067-14A>G (n.8067-14A>G) c.8565-14A>G (n.8565-14A>G) c.6162-14A>G (n.6162-14A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336546T= | CA1337607270 | COL6A3 | c.1213-14A= c.7950-14A= (n.7950-14A=) c.695-14A= n.835-14A= c.8568-14A= (n.8568-14A=) c.6744-14A= (n.6744-14A=) c.6747-14A= (n.6747-14A=) n.5010-14A= c.7968-14A= (n.7968-14A=) c.7347-14A= (n.7347-14A=) c.8067-14A= (n.8067-14A=) c.8565-14A= (n.8565-14A=) c.6162-14A= (n.6162-14A=) | |
2 | g.237336547T>G | CA2577289275 | COL6A3 | c.1213-15A>C c.7950-15A>C (n.7950-15A>C) c.695-15A>C n.835-15A>C c.8568-15A>C (n.8568-15A>C) c.6744-15A>C (n.6744-15A>C) c.6747-15A>C (n.6747-15A>C) n.5010-15A>C c.7968-15A>C (n.7968-15A>C) c.7347-15A>C (n.7347-15A>C) c.8067-15A>C (n.8067-15A>C) c.8565-15A>C (n.8565-15A>C) c.6162-15A>C (n.6162-15A>C) | |
2 | g.237336548A>C | CA2701806150 | COL6A3 | c.1213-16T>G c.7950-16T>G (n.7950-16T>G) c.695-16T>G n.835-16T>G c.8568-16T>G (n.8568-16T>G) c.6744-16T>G (n.6744-16T>G) c.6747-16T>G (n.6747-16T>G) n.5010-16T>G c.7968-16T>G (n.7968-16T>G) c.7347-16T>G (n.7347-16T>G) c.8067-16T>G (n.8067-16T>G) c.8565-16T>G (n.8565-16T>G) c.6162-16T>G (n.6162-16T>G) | dbSNP |
2 | g.237336549A= | CA1337607271 | COL6A3 | c.1213-17T= c.7950-17T= (n.7950-17T=) c.695-17T= n.835-17T= c.8568-17T= (n.8568-17T=) c.6744-17T= (n.6744-17T=) c.6747-17T= (n.6747-17T=) n.5010-17T= c.7968-17T= (n.7968-17T=) c.7347-17T= (n.7347-17T=) c.8067-17T= (n.8067-17T=) c.8565-17T= (n.8565-17T=) c.6162-17T= (n.6162-17T=) | |
2 | g.237336549A>C | CA1337607273 | COL6A3 | c.1213-17T>G c.7950-17T>G (n.7950-17T>G) c.695-17T>G n.835-17T>G c.8568-17T>G (n.8568-17T>G) c.6744-17T>G (n.6744-17T>G) c.6747-17T>G (n.6747-17T>G) n.5010-17T>G c.7968-17T>G (n.7968-17T>G) c.7347-17T>G (n.7347-17T>G) c.8067-17T>G (n.8067-17T>G) c.8565-17T>G (n.8565-17T>G) c.6162-17T>G (n.6162-17T>G) | dbSNP |
2 | g.237336549A>T | CA2663791462 | COL6A3 | c.1213-17T>A c.7950-17T>A (n.7950-17T>A) c.695-17T>A n.835-17T>A c.8568-17T>A (n.8568-17T>A) c.6744-17T>A (n.6744-17T>A) c.6747-17T>A (n.6747-17T>A) n.5010-17T>A c.7968-17T>A (n.7968-17T>A) c.7347-17T>A (n.7347-17T>A) c.8067-17T>A (n.8067-17T>A) c.8565-17T>A (n.8565-17T>A) c.6162-17T>A (n.6162-17T>A) | gnomAD v4 |
2 | g.237336551T>C | CA10586820 | COL6A3 | c.1213-19A>G c.7950-19A>G (n.7950-19A>G) c.695-19A>G n.835-19A>G c.8568-19A>G (n.8568-19A>G) c.6744-19A>G (n.6744-19A>G) c.6747-19A>G (n.6747-19A>G) n.5010-19A>G c.7968-19A>G (n.7968-19A>G) c.7347-19A>G (n.7347-19A>G) c.8067-19A>G (n.8067-19A>G) c.8565-19A>G (n.8565-19A>G) c.6162-19A>G (n.6162-19A>G) | ClinVar dbSNP |
2 | g.237336551T= | CA1337607275 | COL6A3 | c.1213-19A= c.7950-19A= (n.7950-19A=) c.695-19A= n.835-19A= c.8568-19A= (n.8568-19A=) c.6744-19A= (n.6744-19A=) c.6747-19A= (n.6747-19A=) n.5010-19A= c.7968-19A= (n.7968-19A=) c.7347-19A= (n.7347-19A=) c.8067-19A= (n.8067-19A=) c.8565-19A= (n.8565-19A=) c.6162-19A= (n.6162-19A=) | |
2 | g.237336555A= | CA1337607276 | COL6A3 | c.1213-23T= c.7950-23T= (n.7950-23T=) c.695-23T= n.835-23T= c.8568-23T= (n.8568-23T=) c.6744-23T= (n.6744-23T=) c.6747-23T= (n.6747-23T=) n.5010-23T= c.7968-23T= (n.7968-23T=) c.7347-23T= (n.7347-23T=) c.8067-23T= (n.8067-23T=) c.8565-23T= (n.8565-23T=) c.6162-23T= (n.6162-23T=) | |
2 | g.237336555A>G | CA67830791 | COL6A3 | c.1213-23T>C c.7950-23T>C (n.7950-23T>C) c.695-23T>C n.835-23T>C c.8568-23T>C (n.8568-23T>C) c.6744-23T>C (n.6744-23T>C) c.6747-23T>C (n.6747-23T>C) n.5010-23T>C c.7968-23T>C (n.7968-23T>C) c.7347-23T>C (n.7347-23T>C) c.8067-23T>C (n.8067-23T>C) c.8565-23T>C (n.8565-23T>C) c.6162-23T>C (n.6162-23T>C) | dbSNP |
2 | g.237336556C>T | CA2663791464 | COL6A3 | c.1213-24G>A c.7950-24G>A (n.7950-24G>A) c.695-24G>A n.835-24G>A c.8568-24G>A (n.8568-24G>A) c.6744-24G>A (n.6744-24G>A) c.6747-24G>A (n.6747-24G>A) n.5010-24G>A c.7968-24G>A (n.7968-24G>A) c.7347-24G>A (n.7347-24G>A) c.8067-24G>A (n.8067-24G>A) c.8565-24G>A (n.8565-24G>A) c.6162-24G>A (n.6162-24G>A) | gnomAD v4 |
2 | g.237336557C>A | CA2187496 | COL6A3 | c.1213-25G>T c.7950-25G>T (n.7950-25G>T) c.695-25G>T n.835-25G>T c.8568-25G>T (n.8568-25G>T) c.6744-25G>T (n.6744-25G>T) c.6747-25G>T (n.6747-25G>T) n.5010-25G>T c.7968-25G>T (n.7968-25G>T) c.7347-25G>T (n.7347-25G>T) c.8067-25G>T (n.8067-25G>T) c.8565-25G>T (n.8565-25G>T) c.6162-25G>T (n.6162-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336557C= | CA1337607278 | COL6A3 | c.1213-25G= c.7950-25G= (n.7950-25G=) c.695-25G= n.835-25G= c.8568-25G= (n.8568-25G=) c.6744-25G= (n.6744-25G=) c.6747-25G= (n.6747-25G=) n.5010-25G= c.7968-25G= (n.7968-25G=) c.7347-25G= (n.7347-25G=) c.8067-25G= (n.8067-25G=) c.8565-25G= (n.8565-25G=) c.6162-25G= (n.6162-25G=) | |
2 | g.237336567A= | CA1337607279 | COL6A3 | c.1213-35T= c.7950-35T= (n.7950-35T=) c.695-35T= n.835-35T= c.8568-35T= (n.8568-35T=) c.6744-35T= (n.6744-35T=) c.6747-35T= (n.6747-35T=) n.5010-35T= c.7968-35T= (n.7968-35T=) c.7347-35T= (n.7347-35T=) c.8067-35T= (n.8067-35T=) c.8565-35T= (n.8565-35T=) c.6162-35T= (n.6162-35T=) | |
2 | g.237336567A>G | CA2187497 | COL6A3 | c.1213-35T>C c.7950-35T>C (n.7950-35T>C) c.695-35T>C n.835-35T>C c.8568-35T>C (n.8568-35T>C) c.6744-35T>C (n.6744-35T>C) c.6747-35T>C (n.6747-35T>C) n.5010-35T>C c.7968-35T>C (n.7968-35T>C) c.7347-35T>C (n.7347-35T>C) c.8067-35T>C (n.8067-35T>C) c.8565-35T>C (n.8565-35T>C) c.6162-35T>C (n.6162-35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336568C= | CA1337607280 | COL6A3 | c.1213-36G= c.7950-36G= (n.7950-36G=) c.695-36G= n.835-36G= c.8568-36G= (n.8568-36G=) c.6744-36G= (n.6744-36G=) c.6747-36G= (n.6747-36G=) n.5010-36G= c.7968-36G= (n.7968-36G=) c.7347-36G= (n.7347-36G=) c.8067-36G= (n.8067-36G=) c.8565-36G= (n.8565-36G=) c.6162-36G= (n.6162-36G=) | |
2 | g.237336568C>T | CA1337607281 | COL6A3 | c.1213-36G>A c.7950-36G>A (n.7950-36G>A) c.695-36G>A n.835-36G>A c.8568-36G>A (n.8568-36G>A) c.6744-36G>A (n.6744-36G>A) c.6747-36G>A (n.6747-36G>A) n.5010-36G>A c.7968-36G>A (n.7968-36G>A) c.7347-36G>A (n.7347-36G>A) c.8067-36G>A (n.8067-36G>A) c.8565-36G>A (n.8565-36G>A) c.6162-36G>A (n.6162-36G>A) | dbSNP |
2 | g.237336569C= | CA1337607283 | COL6A3 | c.1213-37G= c.7950-37G= (n.7950-37G=) c.695-37G= n.835-37G= c.8568-37G= (n.8568-37G=) c.6744-37G= (n.6744-37G=) c.6747-37G= (n.6747-37G=) n.5010-37G= c.7968-37G= (n.7968-37G=) c.7347-37G= (n.7347-37G=) c.8067-37G= (n.8067-37G=) c.8565-37G= (n.8565-37G=) c.6162-37G= (n.6162-37G=) | |
2 | g.237336569C>G | CA2187499 | COL6A3 | c.1213-37G>C c.7950-37G>C (n.7950-37G>C) c.695-37G>C n.835-37G>C c.8568-37G>C (n.8568-37G>C) c.6744-37G>C (n.6744-37G>C) c.6747-37G>C (n.6747-37G>C) n.5010-37G>C c.7968-37G>C (n.7968-37G>C) c.7347-37G>C (n.7347-37G>C) c.8067-37G>C (n.8067-37G>C) c.8565-37G>C (n.8565-37G>C) c.6162-37G>C (n.6162-37G>C) | dbSNP ExAC gnomAD v2 |
2 | g.237336569C>T | CA2187498 | COL6A3 | c.1213-37G>A c.7950-37G>A (n.7950-37G>A) c.695-37G>A n.835-37G>A c.8568-37G>A (n.8568-37G>A) c.6744-37G>A (n.6744-37G>A) c.6747-37G>A (n.6747-37G>A) n.5010-37G>A c.7968-37G>A (n.7968-37G>A) c.7347-37G>A (n.7347-37G>A) c.8067-37G>A (n.8067-37G>A) c.8565-37G>A (n.8565-37G>A) c.6162-37G>A (n.6162-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336570T>A | CA2523457365 | COL6A3 | c.1213-38A>T c.7950-38A>T (n.7950-38A>T) c.695-38A>T n.835-38A>T c.8568-38A>T (n.8568-38A>T) c.6744-38A>T (n.6744-38A>T) c.6747-38A>T (n.6747-38A>T) n.5010-38A>T c.7968-38A>T (n.7968-38A>T) c.7347-38A>T (n.7347-38A>T) c.8067-38A>T (n.8067-38A>T) c.8565-38A>T (n.8565-38A>T) c.6162-38A>T (n.6162-38A>T) | gnomAD v4 |
2 | g.237336571G>A | CA2663791465 | COL6A3 | c.1213-39C>T c.7950-39C>T (n.7950-39C>T) c.695-39C>T n.835-39C>T c.8568-39C>T (n.8568-39C>T) c.6744-39C>T (n.6744-39C>T) c.6747-39C>T (n.6747-39C>T) n.5010-39C>T c.7968-39C>T (n.7968-39C>T) c.7347-39C>T (n.7347-39C>T) c.8067-39C>T (n.8067-39C>T) c.8565-39C>T (n.8565-39C>T) c.6162-39C>T (n.6162-39C>T) | gnomAD v4 |
2 | g.237336572C>G | CA2663791466 | COL6A3 | c.1213-40G>C c.7950-40G>C (n.7950-40G>C) c.695-40G>C n.835-40G>C c.8568-40G>C (n.8568-40G>C) c.6744-40G>C (n.6744-40G>C) c.6747-40G>C (n.6747-40G>C) n.5010-40G>C c.7968-40G>C (n.7968-40G>C) c.7347-40G>C (n.7347-40G>C) c.8067-40G>C (n.8067-40G>C) c.8565-40G>C (n.8565-40G>C) c.6162-40G>C (n.6162-40G>C) | gnomAD v4 |
2 | g.237336572C>T | CA2663791467 | COL6A3 | c.1213-40G>A c.7950-40G>A (n.7950-40G>A) c.695-40G>A n.835-40G>A c.8568-40G>A (n.8568-40G>A) c.6744-40G>A (n.6744-40G>A) c.6747-40G>A (n.6747-40G>A) n.5010-40G>A c.7968-40G>A (n.7968-40G>A) c.7347-40G>A (n.7347-40G>A) c.8067-40G>A (n.8067-40G>A) c.8565-40G>A (n.8565-40G>A) c.6162-40G>A (n.6162-40G>A) | gnomAD v4 |
2 | g.237336574A= | CA1337607285 | COL6A3 | c.1213-42T= c.7950-42T= (n.7950-42T=) c.695-42T= n.835-42T= c.8568-42T= (n.8568-42T=) c.6744-42T= (n.6744-42T=) c.6747-42T= (n.6747-42T=) n.5010-42T= c.7968-42T= (n.7968-42T=) c.7347-42T= (n.7347-42T=) c.8067-42T= (n.8067-42T=) c.8565-42T= (n.8565-42T=) c.6162-42T= (n.6162-42T=) | |
2 | g.237336574A>T | CA540461132 | COL6A3 | c.1213-42T>A c.7950-42T>A (n.7950-42T>A) c.695-42T>A n.835-42T>A c.8568-42T>A (n.8568-42T>A) c.6744-42T>A (n.6744-42T>A) c.6747-42T>A (n.6747-42T>A) n.5010-42T>A c.7968-42T>A (n.7968-42T>A) c.7347-42T>A (n.7347-42T>A) c.8067-42T>A (n.8067-42T>A) c.8565-42T>A (n.8565-42T>A) c.6162-42T>A (n.6162-42T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336577T>C | CA2663791468 | COL6A3 | c.1213-45A>G c.7950-45A>G (n.7950-45A>G) c.695-45A>G n.835-45A>G c.8568-45A>G (n.8568-45A>G) c.6744-45A>G (n.6744-45A>G) c.6747-45A>G (n.6747-45A>G) n.5010-45A>G c.7968-45A>G (n.7968-45A>G) c.7347-45A>G (n.7347-45A>G) c.8067-45A>G (n.8067-45A>G) c.8565-45A>G (n.8565-45A>G) c.6162-45A>G (n.6162-45A>G) | gnomAD v4 |
2 | g.237336578_237336582delinsAAAAT | CA1337607287 | COL6A3 | c.1213-50_1213-46delinsATTTT c.7950-50_7950-46delinsATTTT (n.7950-50_7950-46delinsATTTT) c.695-50_695-46delinsATTTT n.835-50_835-46delinsATTTT c.8568-50_8568-46delinsATTTT (n.8568-50_8568-46delinsATTTT) c.6744-50_6744-46delinsATTTT (n.6744-50_6744-46delinsATTTT) c.6747-50_6747-46delinsATTTT (n.6747-50_6747-46delinsATTTT) n.5010-50_5010-46delinsATTTT c.7968-50_7968-46delinsATTTT (n.7968-50_7968-46delinsATTTT) c.7347-50_7347-46delinsATTTT (n.7347-50_7347-46delinsATTTT) c.8067-50_8067-46delinsATTTT (n.8067-50_8067-46delinsATTTT) c.8565-50_8565-46delinsATTTT (n.8565-50_8565-46delinsATTTT) c.6162-50_6162-46delinsATTTT (n.6162-50_6162-46delinsATTTT) | |
2 | g.237336586_237336589del | CA2187500 | COL6A3 | c.1213-50_1213-47del c.7950-50_7950-47del (n.7950-50_7950-47del) c.695-50_695-47del n.835-50_835-47del c.8568-50_8568-47del (n.8568-50_8568-47del) c.6744-50_6744-47del (n.6744-50_6744-47del) c.6747-50_6747-47del (n.6747-50_6747-47del) n.5010-50_5010-47del c.7968-50_7968-47del (n.7968-50_7968-47del) c.7347-50_7347-47del (n.7347-50_7347-47del) c.8067-50_8067-47del (n.8067-50_8067-47del) c.8565-50_8565-47del (n.8565-50_8565-47del) c.6162-50_6162-47del (n.6162-50_6162-47del) | dbSNP ExAC gnomAD v2 |
2 | g.237336582T>A | CA2754786774 | COL6A3 | c.1213-50A>T c.7950-50A>T (n.7950-50A>T) c.695-50A>T n.835-50A>T c.8568-50A>T (n.8568-50A>T) c.6744-50A>T (n.6744-50A>T) c.6747-50A>T (n.6747-50A>T) n.5010-50A>T c.7968-50A>T (n.7968-50A>T) c.7347-50A>T (n.7347-50A>T) c.8067-50A>T (n.8067-50A>T) c.8565-50A>T (n.8565-50A>T) c.6162-50A>T (n.6162-50A>T) | |
2 | g.237336583A>G | CA2663791469 | COL6A3 | c.1213-51T>C c.7950-51T>C (n.7950-51T>C) c.695-51T>C n.835-51T>C c.8568-51T>C (n.8568-51T>C) c.6744-51T>C (n.6744-51T>C) c.6747-51T>C (n.6747-51T>C) n.5010-51T>C c.7968-51T>C (n.7968-51T>C) c.7347-51T>C (n.7347-51T>C) c.8067-51T>C (n.8067-51T>C) c.8565-51T>C (n.8565-51T>C) c.6162-51T>C (n.6162-51T>C) | gnomAD v4 |
2 | g.237336585_237336589del | CA2663791470 | COL6A3 | c.1213-55_1213-51del c.7950-55_7950-51del (n.7950-55_7950-51del) c.695-55_695-51del n.835-55_835-51del c.8568-55_8568-51del (n.8568-55_8568-51del) c.6744-55_6744-51del (n.6744-55_6744-51del) c.6747-55_6747-51del (n.6747-55_6747-51del) n.5010-55_5010-51del c.7968-55_7968-51del (n.7968-55_7968-51del) c.7347-55_7347-51del (n.7347-55_7347-51del) c.8067-55_8067-51del (n.8067-55_8067-51del) c.8565-55_8565-51del (n.8565-55_8565-51del) c.6162-55_6162-51del (n.6162-55_6162-51del) | gnomAD v4 |
2 | g.237336584A= | CA1337607289 | COL6A3 | c.1213-52T= c.7950-52T= (n.7950-52T=) c.695-52T= n.835-52T= c.8568-52T= (n.8568-52T=) c.6744-52T= (n.6744-52T=) c.6747-52T= (n.6747-52T=) n.5010-52T= c.7968-52T= (n.7968-52T=) c.7347-52T= (n.7347-52T=) c.8067-52T= (n.8067-52T=) c.8565-52T= (n.8565-52T=) c.6162-52T= (n.6162-52T=) | |
2 | g.237336584A>C | CA1043806693 | COL6A3 | c.1213-52T>G c.7950-52T>G (n.7950-52T>G) c.695-52T>G n.835-52T>G c.8568-52T>G (n.8568-52T>G) c.6744-52T>G (n.6744-52T>G) c.6747-52T>G (n.6747-52T>G) n.5010-52T>G c.7968-52T>G (n.7968-52T>G) c.7347-52T>G (n.7347-52T>G) c.8067-52T>G (n.8067-52T>G) c.8565-52T>G (n.8565-52T>G) c.6162-52T>G (n.6162-52T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336584A>G | CA2663791471 | COL6A3 | c.1213-52T>C c.7950-52T>C (n.7950-52T>C) c.695-52T>C n.835-52T>C c.8568-52T>C (n.8568-52T>C) c.6744-52T>C (n.6744-52T>C) c.6747-52T>C (n.6747-52T>C) n.5010-52T>C c.7968-52T>C (n.7968-52T>C) c.7347-52T>C (n.7347-52T>C) c.8067-52T>C (n.8067-52T>C) c.8565-52T>C (n.8565-52T>C) c.6162-52T>C (n.6162-52T>C) | gnomAD v4 |
2 | g.237336585A>C | CA2663791472 | COL6A3 | c.1213-53T>G c.7950-53T>G (n.7950-53T>G) c.695-53T>G n.835-53T>G c.8568-53T>G (n.8568-53T>G) c.6744-53T>G (n.6744-53T>G) c.6747-53T>G (n.6747-53T>G) n.5010-53T>G c.7968-53T>G (n.7968-53T>G) c.7347-53T>G (n.7347-53T>G) c.8067-53T>G (n.8067-53T>G) c.8565-53T>G (n.8565-53T>G) c.6162-53T>G (n.6162-53T>G) | gnomAD v4 |
2 | g.237336585A>T | CA2663791473 | COL6A3 | c.1213-53T>A c.7950-53T>A (n.7950-53T>A) c.695-53T>A n.835-53T>A c.8568-53T>A (n.8568-53T>A) c.6744-53T>A (n.6744-53T>A) c.6747-53T>A (n.6747-53T>A) n.5010-53T>A c.7968-53T>A (n.7968-53T>A) c.7347-53T>A (n.7347-53T>A) c.8067-53T>A (n.8067-53T>A) c.8565-53T>A (n.8565-53T>A) c.6162-53T>A (n.6162-53T>A) | gnomAD v4 |
2 | g.237336585_237336586delinsAT | CA1337607291 | COL6A3 | c.1213-54_1213-53delinsAT c.7950-54_7950-53delinsAT (n.7950-54_7950-53delinsAT) c.695-54_695-53delinsAT n.835-54_835-53delinsAT c.8568-54_8568-53delinsAT (n.8568-54_8568-53delinsAT) c.6744-54_6744-53delinsAT (n.6744-54_6744-53delinsAT) c.6747-54_6747-53delinsAT (n.6747-54_6747-53delinsAT) n.5010-54_5010-53delinsAT c.7968-54_7968-53delinsAT (n.7968-54_7968-53delinsAT) c.7347-54_7347-53delinsAT (n.7347-54_7347-53delinsAT) c.8067-54_8067-53delinsAT (n.8067-54_8067-53delinsAT) c.8565-54_8565-53delinsAT (n.8565-54_8565-53delinsAT) c.6162-54_6162-53delinsAT (n.6162-54_6162-53delinsAT) | |
2 | g.237336586del | CA1043806766 | COL6A3 | c.1213-54del c.7950-54del (n.7950-54del) c.695-54del n.835-54del c.8568-54del (n.8568-54del) c.6744-54del (n.6744-54del) c.6747-54del (n.6747-54del) n.5010-54del c.7968-54del (n.7968-54del) c.7347-54del (n.7347-54del) c.8067-54del (n.8067-54del) c.8565-54del (n.8565-54del) c.6162-54del (n.6162-54del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336586T>A | CA2754786775 | COL6A3 | c.1213-54A>T c.7950-54A>T (n.7950-54A>T) c.695-54A>T n.835-54A>T c.8568-54A>T (n.8568-54A>T) c.6744-54A>T (n.6744-54A>T) c.6747-54A>T (n.6747-54A>T) n.5010-54A>T c.7968-54A>T (n.7968-54A>T) c.7347-54A>T (n.7347-54A>T) c.8067-54A>T (n.8067-54A>T) c.8565-54A>T (n.8565-54A>T) c.6162-54A>T (n.6162-54A>T) | |
2 | g.237336586T>C | CA2754786776 | COL6A3 | c.1213-54A>G c.7950-54A>G (n.7950-54A>G) c.695-54A>G n.835-54A>G c.8568-54A>G (n.8568-54A>G) c.6744-54A>G (n.6744-54A>G) c.6747-54A>G (n.6747-54A>G) n.5010-54A>G c.7968-54A>G (n.7968-54A>G) c.7347-54A>G (n.7347-54A>G) c.8067-54A>G (n.8067-54A>G) c.8565-54A>G (n.8565-54A>G) c.6162-54A>G (n.6162-54A>G) | |
2 | g.237336587A>G | CA2577289276 | COL6A3 | c.1213-55T>C c.7950-55T>C (n.7950-55T>C) c.695-55T>C n.835-55T>C c.8568-55T>C (n.8568-55T>C) c.6744-55T>C (n.6744-55T>C) c.6747-55T>C (n.6747-55T>C) n.5010-55T>C c.7968-55T>C (n.7968-55T>C) c.7347-55T>C (n.7347-55T>C) c.8067-55T>C (n.8067-55T>C) c.8565-55T>C (n.8565-55T>C) c.6162-55T>C (n.6162-55T>C) | gnomAD v4 |
2 | g.237336587_237336588insCCAAACACACCC | CA2754786777 | COL6A3 | c.1213-56_1213-55insGGGTGTGTTTGG c.7950-56_7950-55insGGGTGTGTTTGG (n.7950-56_7950-55insGGGTGTGTTTGG) c.695-56_695-55insGGGTGTGTTTGG n.835-56_835-55insGGGTGTGTTTGG c.8568-56_8568-55insGGGTGTGTTTGG (n.8568-56_8568-55insGGGTGTGTTTGG) c.6744-56_6744-55insGGGTGTGTTTGG (n.6744-56_6744-55insGGGTGTGTTTGG) c.6747-56_6747-55insGGGTGTGTTTGG (n.6747-56_6747-55insGGGTGTGTTTGG) n.5010-56_5010-55insGGGTGTGTTTGG c.7968-56_7968-55insGGGTGTGTTTGG (n.7968-56_7968-55insGGGTGTGTTTGG) c.7347-56_7347-55insGGGTGTGTTTGG (n.7347-56_7347-55insGGGTGTGTTTGG) c.8067-56_8067-55insGGGTGTGTTTGG (n.8067-56_8067-55insGGGTGTGTTTGG) c.8565-56_8565-55insGGGTGTGTTTGG (n.8565-56_8565-55insGGGTGTGTTTGG) c.6162-56_6162-55insGGGTGTGTTTGG (n.6162-56_6162-55insGGGTGTGTTTGG) | |
2 | g.237336588A= | CA1337607292 | COL6A3 | c.1213-56T= c.7950-56T= (n.7950-56T=) c.695-56T= n.835-56T= c.8568-56T= (n.8568-56T=) c.6744-56T= (n.6744-56T=) c.6747-56T= (n.6747-56T=) n.5010-56T= c.7968-56T= (n.7968-56T=) c.7347-56T= (n.7347-56T=) c.8067-56T= (n.8067-56T=) c.8565-56T= (n.8565-56T=) c.6162-56T= (n.6162-56T=) | |
2 | g.237336588A>G | CA1337607293 | COL6A3 | c.1213-56T>C c.7950-56T>C (n.7950-56T>C) c.695-56T>C n.835-56T>C c.8568-56T>C (n.8568-56T>C) c.6744-56T>C (n.6744-56T>C) c.6747-56T>C (n.6747-56T>C) n.5010-56T>C c.7968-56T>C (n.7968-56T>C) c.7347-56T>C (n.7347-56T>C) c.8067-56T>C (n.8067-56T>C) c.8565-56T>C (n.8565-56T>C) c.6162-56T>C (n.6162-56T>C) | dbSNP |
2 | g.237336590G>C | CA2754786778 | COL6A3 | c.1213-58C>G c.7950-58C>G (n.7950-58C>G) c.695-58C>G n.835-58C>G c.8568-58C>G (n.8568-58C>G) c.6744-58C>G (n.6744-58C>G) c.6747-58C>G (n.6747-58C>G) n.5010-58C>G c.7968-58C>G (n.7968-58C>G) c.7347-58C>G (n.7347-58C>G) c.8067-58C>G (n.8067-58C>G) c.8565-58C>G (n.8565-58C>G) c.6162-58C>G (n.6162-58C>G) | |
2 | g.237336590G= | CA1337607295 | COL6A3 | c.1213-58C= c.7950-58C= (n.7950-58C=) c.695-58C= n.835-58C= c.8568-58C= (n.8568-58C=) c.6744-58C= (n.6744-58C=) c.6747-58C= (n.6747-58C=) n.5010-58C= c.7968-58C= (n.7968-58C=) c.7347-58C= (n.7347-58C=) c.8067-58C= (n.8067-58C=) c.8565-58C= (n.8565-58C=) c.6162-58C= (n.6162-58C=) | |
2 | g.237336590G>T | CA67830807 | COL6A3 | c.1213-58C>A c.7950-58C>A (n.7950-58C>A) c.695-58C>A n.835-58C>A c.8568-58C>A (n.8568-58C>A) c.6744-58C>A (n.6744-58C>A) c.6747-58C>A (n.6747-58C>A) n.5010-58C>A c.7968-58C>A (n.7968-58C>A) c.7347-58C>A (n.7347-58C>A) c.8067-58C>A (n.8067-58C>A) c.8565-58C>A (n.8565-58C>A) c.6162-58C>A (n.6162-58C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336591A>G | CA2577289277 | COL6A3 | c.1213-59T>C c.7950-59T>C (n.7950-59T>C) c.695-59T>C n.835-59T>C c.8568-59T>C (n.8568-59T>C) c.6744-59T>C (n.6744-59T>C) c.6747-59T>C (n.6747-59T>C) n.5010-59T>C c.7968-59T>C (n.7968-59T>C) c.7347-59T>C (n.7347-59T>C) c.8067-59T>C (n.8067-59T>C) c.8565-59T>C (n.8565-59T>C) c.6162-59T>C (n.6162-59T>C) | gnomAD v4 |
2 | g.237336592C>A | CA2663791474 | COL6A3 | c.1213-60G>T c.7950-60G>T (n.7950-60G>T) c.695-60G>T n.835-60G>T c.8568-60G>T (n.8568-60G>T) c.6744-60G>T (n.6744-60G>T) c.6747-60G>T (n.6747-60G>T) n.5010-60G>T c.7968-60G>T (n.7968-60G>T) c.7347-60G>T (n.7347-60G>T) c.8067-60G>T (n.8067-60G>T) c.8565-60G>T (n.8565-60G>T) c.6162-60G>T (n.6162-60G>T) | gnomAD v4 |
2 | g.237336593A= | CA1337607296 | COL6A3 | c.1213-61T= c.7950-61T= (n.7950-61T=) c.695-61T= n.835-61T= c.8568-61T= (n.8568-61T=) c.6744-61T= (n.6744-61T=) c.6747-61T= (n.6747-61T=) n.5010-61T= c.7968-61T= (n.7968-61T=) c.7347-61T= (n.7347-61T=) c.8067-61T= (n.8067-61T=) c.8565-61T= (n.8565-61T=) c.6162-61T= (n.6162-61T=) | |
2 | g.237336593A>G | CA67830829 | COL6A3 | c.1213-61T>C c.7950-61T>C (n.7950-61T>C) c.695-61T>C n.835-61T>C c.8568-61T>C (n.8568-61T>C) c.6744-61T>C (n.6744-61T>C) c.6747-61T>C (n.6747-61T>C) n.5010-61T>C c.7968-61T>C (n.7968-61T>C) c.7347-61T>C (n.7347-61T>C) c.8067-61T>C (n.8067-61T>C) c.8565-61T>C (n.8565-61T>C) c.6162-61T>C (n.6162-61T>C) | dbSNP gnomAD v4 |
2 | g.237336594_237336596dup | CA2663791475 | COL6A3 | c.1213-63_1213-61dup c.7950-63_7950-61dup (n.7950-63_7950-61dup) c.695-63_695-61dup n.835-63_835-61dup c.8568-63_8568-61dup (n.8568-63_8568-61dup) c.6744-63_6744-61dup (n.6744-63_6744-61dup) c.6747-63_6747-61dup (n.6747-63_6747-61dup) n.5010-63_5010-61dup c.7968-63_7968-61dup (n.7968-63_7968-61dup) c.7347-63_7347-61dup (n.7347-63_7347-61dup) c.8067-63_8067-61dup (n.8067-63_8067-61dup) c.8565-63_8565-61dup (n.8565-63_8565-61dup) c.6162-63_6162-61dup (n.6162-63_6162-61dup) | gnomAD v4 |
2 | g.237336594T>C | CA1043806770 | COL6A3 | c.1213-62A>G c.7950-62A>G (n.7950-62A>G) c.695-62A>G n.835-62A>G c.8568-62A>G (n.8568-62A>G) c.6744-62A>G (n.6744-62A>G) c.6747-62A>G (n.6747-62A>G) n.5010-62A>G c.7968-62A>G (n.7968-62A>G) c.7347-62A>G (n.7347-62A>G) c.8067-62A>G (n.8067-62A>G) c.8565-62A>G (n.8565-62A>G) c.6162-62A>G (n.6162-62A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336594T= | CA1337607298 | COL6A3 | c.1213-62A= c.7950-62A= (n.7950-62A=) c.695-62A= n.835-62A= c.8568-62A= (n.8568-62A=) c.6744-62A= (n.6744-62A=) c.6747-62A= (n.6747-62A=) n.5010-62A= c.7968-62A= (n.7968-62A=) c.7347-62A= (n.7347-62A=) c.8067-62A= (n.8067-62A=) c.8565-62A= (n.8565-62A=) c.6162-62A= (n.6162-62A=) | |
2 | g.237336595A>C | CA2577289278 | COL6A3 | c.1213-63T>G c.7950-63T>G (n.7950-63T>G) c.695-63T>G n.835-63T>G c.8568-63T>G (n.8568-63T>G) c.6744-63T>G (n.6744-63T>G) c.6747-63T>G (n.6747-63T>G) n.5010-63T>G c.7968-63T>G (n.7968-63T>G) c.7347-63T>G (n.7347-63T>G) c.8067-63T>G (n.8067-63T>G) c.8565-63T>G (n.8565-63T>G) c.6162-63T>G (n.6162-63T>G) | |
2 | g.237336596_237336597delinsAC | CA1337607299 | COL6A3 | c.1213-65_1213-64delinsGT c.7950-65_7950-64delinsGT (n.7950-65_7950-64delinsGT) c.695-65_695-64delinsGT n.835-65_835-64delinsGT c.8568-65_8568-64delinsGT (n.8568-65_8568-64delinsGT) c.6744-65_6744-64delinsGT (n.6744-65_6744-64delinsGT) c.6747-65_6747-64delinsGT (n.6747-65_6747-64delinsGT) n.5010-65_5010-64delinsGT c.7968-65_7968-64delinsGT (n.7968-65_7968-64delinsGT) c.7347-65_7347-64delinsGT (n.7347-65_7347-64delinsGT) c.8067-65_8067-64delinsGT (n.8067-65_8067-64delinsGT) c.8565-65_8565-64delinsGT (n.8565-65_8565-64delinsGT) c.6162-65_6162-64delinsGT (n.6162-65_6162-64delinsGT) |