21 | g.45984352_45984387delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA | CA2392430036 | COL6A1 | c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA (p.Thr104=)
| |
21 | g.45984356_45984390del | CA10605169 | COL6A1 | c.315_349del (p.Met106GlyfsTer?)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984372_45984376del | CA2654956322 | COL6A1 | c.331_335del (p.Asp111ThrfsTer?)
| gnomAD v4 |
21 | g.45984371_45984377delinsCGACGCA | CA2392430050 | COL6A1 | c.330_336delinsCGACGCA (p.Arg110=)
| |
21 | g.45984371_45984380del | CA2577628304 | COL6A1 | c.330_339del (p.Asp111LysfsTer?)
| |
21 | g.45984372_45984377del | CA2392430051 | COL6A1 | c.331_336del (p.Asp111_Ala112del)
| dbSNP |
21 | g.45984373A>C | CA410516060 | COL6A1 | c.332A>C (p.Asp111Ala)
| |
21 | g.45984373A>G | CA410516062 | COL6A1 | c.332A>G (p.Asp111Gly)
| |
21 | g.45984373A>T | CA410516064 | COL6A1 | c.332A>T (p.Asp111Val)
| |
21 | g.45984374C>A | CA410516066 | COL6A1 | c.333C>A (p.Asp111Glu)
| |
21 | g.45984374C= | CA2392430053 | COL6A1 | c.333C= (p.Asp111=)
| |
21 | g.45984374C>G | CA410516067 | COL6A1 | c.333C>G (p.Asp111Glu)
| |
21 | g.45984374C>T | CA513169078 | COL6A1 | c.333C>T (p.Asp111=)
| dbSNP gnomAD v4 |
21 | g.45984375G>A | CA10069531 | COL6A1 | c.334G>A (p.Ala112Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984375G>C | CA410516069 | COL6A1 | c.334G>C (p.Ala112Pro)
| dbSNP |
21 | g.45984375G= | CA2392430054 | COL6A1 | c.334G= (p.Ala112=)
| |
21 | g.45984375G>T | CA10069530 | COL6A1 | c.334G>T (p.Ala112Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984376C>A | CA410516072 | COL6A1 | c.335C>A (p.Ala112Glu)
| |
21 | g.45984376C= | CA2392430055 | COL6A1 | c.335C= (p.Ala112=)
| |
21 | g.45984376C>G | CA410516073 | COL6A1 | c.335C>G (p.Ala112Gly)
| |
21 | g.45984376C>T | CA10069532 | COL6A1 | c.335C>T (p.Ala112Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984377A= | CA2392430056 | COL6A1 | c.336A= (p.Ala112=)
| |
21 | g.45984377A>C | CA10069533 | COL6A1 | c.336A>C (p.Ala112=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984377A>G | CA513169080 | COL6A1 | c.336A>G (p.Ala112=)
| |
21 | g.45984377A>T | CA10069534 | COL6A1 | c.336A>T (p.Ala112=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984378C>A | CA410516082 | COL6A1 | c.337C>A (p.Leu113Ile)
| |
21 | g.45984378C>G | CA410516080 | COL6A1 | c.337C>G (p.Leu113Val)
| gnomAD v4 |
21 | g.45984378C>T | CA410516078 | COL6A1 | c.337C>T (p.Leu113Phe)
| |
21 | g.45984379T>A | CA410516084 | COL6A1 | c.338T>A (p.Leu113His)
| |
21 | g.45984379T>C | CA410516086 | COL6A1 | c.338T>C (p.Leu113Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984379T>G | CA410516088 | COL6A1 | c.338T>G (p.Leu113Arg)
| |
21 | g.45984379T= | CA2392430057 | COL6A1 | c.338T= (p.Leu113=)
| |
21 | g.45984380C>A | CA513169082 | COL6A1 | c.339C>A (p.Leu113=)
| gnomAD v4 |
21 | g.45984380C>G | CA513169084 | COL6A1 | c.339C>G (p.Leu113=)
| |
21 | g.45984380C>T | CA513169086 | COL6A1 | c.339C>T (p.Leu113=)
| |
21 | g.45984381A= | CA2392430058 | COL6A1 | c.340A= (p.Lys114=)
| |
21 | g.45984381A>C | CA410516090 | COL6A1 | c.340A>C (p.Lys114Gln)
| ClinVar gnomAD v4 |
21 | g.45984381A>G | CA10069535 | COL6A1 | c.340A>G (p.Lys114Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984381A>T | CA410516093 | COL6A1 | c.340A>T (p.Lys114Ter)
| gnomAD v4 |
21 | g.45984383_45984384del | CA2557315542 | COL6A1 | c.342_343del (p.Ser115GlnfsTer?)
| |
21 | g.45984382A>C | CA410516095 | COL6A1 | c.341A>C (p.Lys114Thr)
| |
21 | g.45984382A>G | CA410516098 | COL6A1 | c.341A>G (p.Lys114Arg)
| |
21 | g.45984382A>T | CA410516096 | COL6A1 | c.341A>T (p.Lys114Ile)
| |
21 | g.45984383A>C | CA410516100 | COL6A1 | c.342A>C (p.Lys114Asn)
| |
21 | g.45984383A>G | CA513169089 | COL6A1 | c.342A>G (p.Lys114=)
| |
21 | g.45984383A>T | CA410516102 | COL6A1 | c.342A>T (p.Lys114Asn)
| |
21 | g.45984384A= | CA2392430060 | COL6A1 | c.343A= (p.Ser115=)
| |
21 | g.45984384A>C | CA410516104 | COL6A1 | c.343A>C (p.Ser115Arg)
| dbSNP gnomAD v4 |
21 | g.45984384A>G | CA410516106 | COL6A1 | c.343A>G (p.Ser115Gly)
| |
21 | g.45984384A>T | CA410516108 | COL6A1 | c.343A>T (p.Ser115Cys)
| |
21 | g.45984384_45984385delinsAG | CA2392430059 | COL6A1 | c.343_344delinsAG (p.Ser115=)
| |
21 | g.45984385del | CA10069536 | COL6A1 | c.344del (p.Ser115ThrfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984385G>A | CA10069539 | COL6A1 | c.344G>A (p.Ser115Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984385G>C | CA10069538 | COL6A1 | c.344G>C (p.Ser115Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984385G= | CA2392430061 | COL6A1 | c.344G= (p.Ser115=)
| |
21 | g.45984385G>T | CA10069537 | COL6A1 | c.344G>T (p.Ser115Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984385_45984386insGC | CA2818096503 | COL6A1 | c.344_345insGC (p.Ser115ArgfsTer?)
| |
21 | g.45984386C>A | CA410516115 | COL6A1 | c.345C>A (p.Ser115Arg)
| gnomAD v4 |
21 | g.45984386C>G | CA410516116 | COL6A1 | c.345C>G (p.Ser115Arg)
| |
21 | g.45984386C>T | CA513169092 | COL6A1 | c.345C>T (p.Ser115=)
| gnomAD v4 |
21 | g.45984387A>C | CA410516119 | COL6A1 | c.346A>C (p.Ser116Arg)
| gnomAD v4 |
21 | g.45984387A>G | CA410516121 | COL6A1 | c.346A>G (p.Ser116Gly)
| |
21 | g.45984387A>T | CA410516118 | COL6A1 | c.346A>T (p.Ser116Cys)
| |
21 | g.45984388G>A | CA147404 | COL6A1 | c.347G>A (p.Ser116Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984388G>C | CA10069540 | COL6A1 | c.347G>C (p.Ser116Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984388G= | CA2392430062 | COL6A1 | c.347G= (p.Ser116=)
| |
21 | g.45984388G>T | CA410516124 | COL6A1 | c.347G>T (p.Ser116Ile)
| |
21 | g.45984389C>A | CA410516127 | COL6A1 | c.348C>A (p.Ser116Arg)
| gnomAD v4 |
21 | g.45984389C= | CA2392430063 | COL6A1 | c.348C= (p.Ser116=)
| |
21 | g.45984389C>G | CA410516129 | COL6A1 | c.348C>G (p.Ser116Arg)
| |
21 | g.45984389C>T | CA10069541 | COL6A1 | c.348C>T (p.Ser116=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984389_45984391delinsCGT | CA2392430064 | COL6A1 | c.348_350delinsCGT (p.Ser116=)
| |
21 | g.45984390G>A | CA231047 | COL6A1 | c.349G>A (p.Val117Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984390G>C | CA410516132 | COL6A1 | c.349G>C (p.Val117Leu)
| |
21 | g.45984390G= | CA2392430065 | COL6A1 | c.349G= (p.Val117=)
| |
21 | g.45984390G>T | CA410516134 | COL6A1 | c.349G>T (p.Val117Leu)
| |
21 | g.45984391_45984392del | CA10069542 | COL6A1 | c.350_351del (p.Val117GlyfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984391T>A | CA410516137 | COL6A1 | c.350T>A (p.Val117Glu)
| |
21 | g.45984391T>C | CA215981 | COL6A1 | c.350T>C (p.Val117Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984391T>G | CA410516140 | COL6A1 | c.350T>G (p.Val117Gly)
| |
21 | g.45984391T= | CA2392430066 | COL6A1 | c.350T= (p.Val117=)
| |
21 | g.45984392G>A | CA513169095 | COL6A1 | c.351G>A (p.Val117=)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984392G>C | CA513169096 | COL6A1 | c.351G>C (p.Val117=)
| |
21 | g.45984392G= | CA2392430067 | COL6A1 | c.351G= (p.Val117=)
| |
21 | g.45984392G>T | CA513169097 | COL6A1 | c.351G>T (p.Val117=)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984393G>A | CA10069543 | COL6A1 | c.352G>A (p.Asp118Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984393G>C | CA410516144 | COL6A1 | c.352G>C (p.Asp118His)
| |
21 | g.45984393G= | CA2392430068 | COL6A1 | c.352G= (p.Asp118=)
| |
21 | g.45984393G>T | CA410516145 | COL6A1 | c.352G>T (p.Asp118Tyr)
| |
21 | g.45984394A>C | CA410516151 | COL6A1 | c.353A>C (p.Asp118Ala)
| |
21 | g.45984394A>G | CA410516147 | COL6A1 | c.353A>G (p.Asp118Gly)
| |
21 | g.45984394A>T | CA410516149 | COL6A1 | c.353A>T (p.Asp118Val)
| |
21 | g.45984395C>A | CA410516153 | COL6A1 | c.354C>A (p.Asp118Glu)
| gnomAD v4 |
21 | g.45984395C= | CA2392430069 | COL6A1 | c.354C= (p.Asp118=)
| |
21 | g.45984395C>G | CA410516155 | COL6A1 | c.354C>G (p.Asp118Glu)
| |
21 | g.45984395C>T | CA513169101 | COL6A1 | c.354C>T (p.Asp118=)
| ClinVar dbSNP gnomAD v4 COSMIC |
21 | g.45984396G>A | CA10069544 | COL6A1 | c.355G>A (p.Ala119Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984396G>C | CA410516158 | COL6A1 | c.355G>C (p.Ala119Pro)
| |
21 | g.45984396G= | CA2392430070 | COL6A1 | c.355G= (p.Ala119=)
| |
21 | g.45984396G>T | CA410516160 | COL6A1 | c.355G>T (p.Ala119Ser)
| |
21 | g.45984397C>A | CA410516162 | COL6A1 | c.356C>A (p.Ala119Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984397C= | CA2392430071 | COL6A1 | c.356C= (p.Ala119=)
| |
21 | g.45984397C>G | CA410516164 | COL6A1 | c.356C>G (p.Ala119Gly)
| |
21 | g.45984397C>T | CA10069545 | COL6A1 | c.356C>T (p.Ala119Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984398G>A | CA10069546 | COL6A1 | c.357G>A (p.Ala119=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984398G>C | CA513169108 | COL6A1 | c.357G>C (p.Ala119=)
| |
21 | g.45984398G= | CA2392430072 | COL6A1 | c.357G= (p.Ala119=)
| |
21 | g.45984398G>T | CA513169109 | COL6A1 | c.357G>T (p.Ala119=)
| gnomAD v4 COSMIC |
21 | g.45984399G>A | CA410516168 | COL6A1 | c.358G>A (p.Val120Ile)
| |
21 | g.45984399G>C | CA410516170 | COL6A1 | c.358G>C (p.Val120Leu)
| |
21 | g.45984399G>T | CA410516171 | COL6A1 | c.358G>T (p.Val120Phe)
| |
21 | g.45984400T>A | CA410516174 | COL6A1 | c.359T>A (p.Val120Asp)
| |
21 | g.45984400T>C | CA410516176 | COL6A1 | c.359T>C (p.Val120Ala)
| gnomAD v4 |
21 | g.45984400T>G | CA410516175 | COL6A1 | c.359T>G (p.Val120Gly)
| |
21 | g.45984401C>A | CA513169113 | COL6A1 | c.360C>A (p.Val120=)
| gnomAD v4 |
21 | g.45984401C= | CA2392430073 | COL6A1 | c.360C= (p.Val120=)
| |
21 | g.45984401C>G | CA513169115 | COL6A1 | c.360C>G (p.Val120=)
| |
21 | g.45984401C>T | CA513169116 | COL6A1 | c.360C>T (p.Val120=)
| dbSNP gnomAD v4 |
21 | g.45984402A= | CA2392430074 | COL6A1 | c.361A= (p.Lys121=)
| |
21 | g.45984402A>C | CA410516179 | COL6A1 | c.361A>C (p.Lys121Gln)
| |
21 | g.45984402A>G | CA410516181 | COL6A1 | c.361A>G (p.Lys121Glu)
| dbSNP gnomAD v4 COSMIC |
21 | g.45984402A>T | CA410516184 | COL6A1 | c.361A>T (p.Lys121Ter)
| |
21 | g.45984403A= | CA2392430075 | COL6A1 | c.362A= (p.Lys121=)
| |
21 | g.45984403A>C | CA410516186 | COL6A1 | c.362A>C (p.Lys121Thr)
| |
21 | g.45984403A>G | CA221786 | COL6A1 | c.362A>G (p.Lys121Arg)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984403A>T | CA410516188 | COL6A1 | c.362A>T (p.Lys121Met)
| |
21 | g.45984404G>A | CA513169118 | COL6A1 | c.363G>A (p.Lys121=)
| gnomAD v4 |
21 | g.45984404G>C | CA410516191 | COL6A1 | c.363G>C (p.Lys121Asn)
| |
21 | g.45984404G>T | CA410516192 | COL6A1 | c.363G>T (p.Lys121Asn)
| |
21 | g.45984405T>A | CA410516193 | COL6A1 | c.364T>A (p.Tyr122Asn)
| gnomAD v4 |
21 | g.45984405T>C | CA410516195 | COL6A1 | c.364T>C (p.Tyr122His)
| |
21 | g.45984405T>G | CA410516196 | COL6A1 | c.364T>G (p.Tyr122Asp)
| |
21 | g.45984406A= | CA2392430076 | COL6A1 | c.365A= (p.Tyr122=)
| |
21 | g.45984406A>C | CA410516202 | COL6A1 | c.365A>C (p.Tyr122Ser)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984406A>G | CA410516198 | COL6A1 | c.365A>G (p.Tyr122Cys)
| |
21 | g.45984406A>T | CA410516200 | COL6A1 | c.365A>T (p.Tyr122Phe)
| |
21 | g.45984407C>A | CA410516204 | COL6A1 | c.366C>A (p.Tyr122Ter)
| |
21 | g.45984407C= | CA2392430077 | COL6A1 | c.366C= (p.Tyr122=)
| |
21 | g.45984407C>G | CA410516206 | COL6A1 | c.366C>G (p.Tyr122Ter)
| gnomAD v4 |
21 | g.45984407C>T | CA10069547 | COL6A1 | c.366C>T (p.Tyr122=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984408T>A | CA410516210 | COL6A1 | c.367T>A (p.Phe123Ile)
| gnomAD v4 |
21 | g.45984408T>C | CA410516211 | COL6A1 | c.367T>C (p.Phe123Leu)
| |
21 | g.45984408T>G | CA410516213 | COL6A1 | c.367T>G (p.Phe123Val)
| |
21 | g.45984409T>A | CA410516215 | COL6A1 | c.368T>A (p.Phe123Tyr)
| |
21 | g.45984409T>C | CA410516217 | COL6A1 | c.368T>C (p.Phe123Ser)
| |
21 | g.45984409T>G | CA410516220 | COL6A1 | c.368T>G (p.Phe123Cys)
| |
21 | g.45984410T>A | CA410516222 | COL6A1 | c.369T>A (p.Phe123Leu)
| |
21 | g.45984410T>C | CA513169124 | COL6A1 | c.369T>C (p.Phe123=)
| |
21 | g.45984410T>G | CA410516224 | COL6A1 | c.369T>G (p.Phe123Leu)
| |
21 | g.45984411G>A | CA410516228 | COL6A1 | c.370G>A (p.Gly124Arg)
| |
21 | g.45984411G>C | CA410516229 | COL6A1 | c.370G>C (p.Gly124Arg)
| gnomAD v4 |
21 | g.45984411G>T | CA410516227 | COL6A1 | c.370G>T (p.Gly124Trp)
| |
21 | g.45984412G>A | CA410516232 | COL6A1 | c.371G>A (p.Gly124Glu)
| dbSNP gnomAD v4 |
21 | g.45984412G>C | CA410516230 | COL6A1 | c.371G>C (p.Gly124Ala)
| |
21 | g.45984412G= | CA2392430078 | COL6A1 | c.371G= (p.Gly124=)
| |
21 | g.45984412G>T | CA410516231 | COL6A1 | c.371G>T (p.Gly124Val)
| |
21 | g.45984413G>A | CA513169125 | COL6A1 | c.372G>A (p.Gly124=)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984413G>C | CA513169126 | COL6A1 | c.372G>C (p.Gly124=)
| |
21 | g.45984413G= | CA2392430079 | COL6A1 | c.372G= (p.Gly124=)
| |
21 | g.45984413G>T | CA513169128 | COL6A1 | c.372G>T (p.Gly124=)
| |
21 | g.45984414A>C | CA410516234 | COL6A1 | c.373A>C (p.Lys125Gln)
| |
21 | g.45984414A>G | CA410516236 | COL6A1 | c.373A>G (p.Lys125Glu)
| |
21 | g.45984414A>T | CA410516238 | COL6A1 | c.373A>T (p.Lys125Ter)
| |
21 | g.45984415A>C | CA410516239 | COL6A1 | c.374A>C (p.Lys125Thr)
| |
21 | g.45984415A>G | CA410516240 | COL6A1 | c.374A>G (p.Lys125Arg)
| gnomAD v4 |
21 | g.45984415A>T | CA410516242 | COL6A1 | c.374A>T (p.Lys125Met)
| |
21 | g.45984416G>A | CA513169133 | COL6A1 | c.375G>A (p.Lys125=)
| |
21 | g.45984416G>C | CA410516244 | COL6A1 | c.375G>C (p.Lys125Asn)
| ClinVar dbSNP |
21 | g.45984416G= | CA2392430080 | COL6A1 | c.375G= (p.Lys125=)
| |
21 | g.45984416G>T | CA410516245 | COL6A1 | c.375G>T (p.Lys125Asn)
| |
21 | g.45984417G>A | CA10605884 | COL6A1 | c.376G>A (p.Gly126Ser)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984417G>C | CA410516247 | COL6A1 | c.376G>C (p.Gly126Arg)
| |
21 | g.45984417G= | CA2392430081 | COL6A1 | c.376G= (p.Gly126=)
| |
21 | g.45984417G>T | CA410516249 | COL6A1 | c.376G>T (p.Gly126Cys)
| |
21 | g.45984418G>A | CA410516251 | COL6A1 | c.377G>A (p.Gly126Asp)
| |
21 | g.45984418G>C | CA410516253 | COL6A1 | c.377G>C (p.Gly126Ala)
| |
21 | g.45984418G= | CA2392430082 | COL6A1 | c.377G= (p.Gly126=)
| |
21 | g.45984418G>T | CA410516252 | COL6A1 | c.377G>T (p.Gly126Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984419C>A | CA513169136 | COL6A1 | c.378C>A (p.Gly126=)
| |
21 | g.45984419C= | CA2392430083 | COL6A1 | c.378C= (p.Gly126=)
| |
21 | g.45984419C>G | CA513169138 | COL6A1 | c.378C>G (p.Gly126=)
| |
21 | g.45984419C>T | CA10069548 | COL6A1 | c.378C>T (p.Gly126=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984420A= | CA2392430084 | COL6A1 | c.379A= (p.Thr127=)
| |
21 | g.45984420A>C | CA410516254 | COL6A1 | c.379A>C (p.Thr127Pro)
| |
21 | g.45984420A>G | CA10606028 | COL6A1 | c.379A>G (p.Thr127Ala)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984420A>T | CA410516256 | COL6A1 | c.379A>T (p.Thr127Ser)
| |
21 | g.45984421C>A | CA410516259 | COL6A1 | c.380C>A (p.Thr127Asn)
| |
21 | g.45984421C>G | CA410516260 | COL6A1 | c.380C>G (p.Thr127Ser)
| |
21 | g.45984421C>T | CA410516261 | COL6A1 | c.380C>T (p.Thr127Ile)
| |
21 | g.45984421_45984430delinsCCTACACCGA | CA2392430085 | COL6A1 | c.380_389delinsCCTACACCGA (p.Thr127=)
| |
21 | g.45984422C>A | CA513169140 | COL6A1 | c.381C>A (p.Thr127=)
| |
21 | g.45984422C= | CA2392430087 | COL6A1 | c.381C= (p.Thr127=)
| |
21 | g.45984422C>G | CA513169141 | COL6A1 | c.381C>G (p.Thr127=)
| |
21 | g.45984422C>T | CA10069549 | COL6A1 | c.381C>T (p.Thr127=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984424_45984432del | CA2392430086 | COL6A1 | c.383_391del (p.Tyr128_Asp130del)
| dbSNP |
21 | g.45984423T>A | CA410516262 | COL6A1 | c.382T>A (p.Tyr128Asn)
| |
21 | g.45984423T>C | CA410516264 | COL6A1 | c.382T>C (p.Tyr128His)
| |
21 | g.45984423T>G | CA410516266 | COL6A1 | c.382T>G (p.Tyr128Asp)
| |
21 | g.45984424A>C | CA410516269 | COL6A1 | c.383A>C (p.Tyr128Ser)
| |
21 | g.45984424A>G | CA410516271 | COL6A1 | c.383A>G (p.Tyr128Cys)
| gnomAD v4 |
21 | g.45984424A>T | CA410516267 | COL6A1 | c.383A>T (p.Tyr128Phe)
| |
21 | g.45984425C>A | CA410516273 | COL6A1 | c.384C>A (p.Tyr128Ter)
| |
21 | g.45984425C>G | CA410516274 | COL6A1 | c.384C>G (p.Tyr128Ter)
| |
21 | g.45984425C>T | CA513169147 | COL6A1 | c.384C>T (p.Tyr128=)
| |
21 | g.45984426A= | CA2392430088 | COL6A1 | c.385A= (p.Thr129=)
| |
21 | g.45984426A>C | CA410516277 | COL6A1 | c.385A>C (p.Thr129Pro)
| |
21 | g.45984426A>G | CA410516278 | COL6A1 | c.385A>G (p.Thr129Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984426A>T | CA410516280 | COL6A1 | c.385A>T (p.Thr129Ser)
| |
21 | g.45984427C>A | CA410516282 | COL6A1 | c.386C>A (p.Thr129Asn)
| |
21 | g.45984427C>G | CA410516284 | COL6A1 | c.386C>G (p.Thr129Ser)
| |
21 | g.45984427C>T | CA410516285 | COL6A1 | c.386C>T (p.Thr129Ile)
| gnomAD v4 |
21 | g.45984428C>A | CA10069550 | COL6A1 | c.387C>A (p.Thr129=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984428C= | CA2392430089 | COL6A1 | c.387C= (p.Thr129=)
| |
21 | g.45984428C>G | CA513169152 | COL6A1 | c.387C>G (p.Thr129=)
| |
21 | g.45984428C>T | CA10069551 | COL6A1 | c.387C>T (p.Thr129=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984429_45984440del | CA2580098898 | COL6A1 | c.388_399del (p.Asp130_Ile133del)
| ClinVar |
21 | g.45984429G>A | CA410516292 | COL6A1 | c.388G>A (p.Asp130Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984429G>C | CA410516293 | COL6A1 | c.388G>C (p.Asp130His)
| |
21 | g.45984429G= | CA2392430090 | COL6A1 | c.388G= (p.Asp130=)
| |
21 | g.45984429G>T | CA410516295 | COL6A1 | c.388G>T (p.Asp130Tyr)
| |
21 | g.45984430A>C | CA410516299 | COL6A1 | c.389A>C (p.Asp130Ala)
| |
21 | g.45984430A>G | CA410516298 | COL6A1 | c.389A>G (p.Asp130Gly)
| |
21 | g.45984430A>T | CA410516297 | COL6A1 | c.389A>T (p.Asp130Val)
| |
21 | g.45984431C>A | CA410516300 | COL6A1 | c.390C>A (p.Asp130Glu)
| gnomAD v4 |
21 | g.45984431C>G | CA410516301 | COL6A1 | c.390C>G (p.Asp130Glu)
| |
21 | g.45984431C>T | CA513169154 | COL6A1 | c.390C>T (p.Asp130=)
| |
21 | g.45984432T>A | CA410516303 | COL6A1 | c.391T>A (p.Cys131Ser)
| |
21 | g.45984432T>C | CA410516304 | COL6A1 | c.391T>C (p.Cys131Arg)
| |
21 | g.45984432T>G | CA410516305 | COL6A1 | c.391T>G (p.Cys131Gly)
| |
21 | g.45984433G>A | CA410516306 | COL6A1 | c.392G>A (p.Cys131Tyr)
| |
21 | g.45984433G>C | CA410516307 | COL6A1 | c.392G>C (p.Cys131Ser)
| |
21 | g.45984433G>T | CA410516309 | COL6A1 | c.392G>T (p.Cys131Phe)
| |
21 | g.45984434C>A | CA410516310 | COL6A1 | c.393C>A (p.Cys131Ter)
| |
21 | g.45984434C= | CA2392430091 | COL6A1 | c.393C= (p.Cys131=)
| |
21 | g.45984434C>G | CA410516311 | COL6A1 | c.393C>G (p.Cys131Trp)
| |
21 | g.45984434C>T | CA321954915 | COL6A1 | c.393C>T (p.Cys131=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984435G>A | CA410516312 | COL6A1 | c.394G>A (p.Ala132Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984435G>C | CA410516313 | COL6A1 | c.394G>C (p.Ala132Pro)
| |
21 | g.45984435G= | CA2392430092 | COL6A1 | c.394G= (p.Ala132=)
| |
21 | g.45984435G>T | CA410516314 | COL6A1 | c.394G>T (p.Ala132Ser)
| gnomAD v4 |
21 | g.45984436C>A | CA410516316 | COL6A1 | c.395C>A (p.Ala132Asp)
| |
21 | g.45984436C>G | CA410516321 | COL6A1 | c.395C>G (p.Ala132Gly)
| |
21 | g.45984436C>T | CA410516319 | COL6A1 | c.395C>T (p.Ala132Val)
| |
21 | g.45984437T>A | CA513169162 | COL6A1 | c.396T>A (p.Ala132=)
| |
21 | g.45984437T>C | CA10069552 | COL6A1 | c.396T>C (p.Ala132=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984437T>G | CA513169163 | COL6A1 | c.396T>G (p.Ala132=)
| |
21 | g.45984437T= | CA2392430093 | COL6A1 | c.396T= (p.Ala132=)
| |
21 | g.45984438A>C | CA410516324 | COL6A1 | c.397A>C (p.Ile133Leu)
| |
21 | g.45984438A>G | CA410516323 | COL6A1 | c.397A>G (p.Ile133Val)
| |
21 | g.45984438A>T | CA410516325 | COL6A1 | c.397A>T (p.Ile133Phe)
| |
21 | g.45984439T>A | CA410516327 | COL6A1 | c.398T>A (p.Ile133Asn)
| |
21 | g.45984439T>C | CA410516330 | COL6A1 | c.398T>C (p.Ile133Thr)
| |
21 | g.45984439T>G | CA410516336 | COL6A1 | c.398T>G (p.Ile133Ser)
| |
21 | g.45984440C>A | CA513169167 | COL6A1 | c.399C>A (p.Ile133=)
| |
21 | g.45984440C= | CA2392430094 | COL6A1 | c.399C= (p.Ile133=)
| |
21 | g.45984440C>G | CA410516337 | COL6A1 | c.399C>G (p.Ile133Met)
| gnomAD v4 |
21 | g.45984440C>T | CA10069553 | COL6A1 | c.399C>T (p.Ile133=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984441A>C | CA410516338 | COL6A1 | c.400A>C (p.Lys134Gln)
| |
21 | g.45984441A>G | CA410516339 | COL6A1 | c.400A>G (p.Lys134Glu)
| |
21 | g.45984441A>T | CA410516340 | COL6A1 | c.400A>T (p.Lys134Ter)
| |
21 | g.45984442A>C | CA410516342 | COL6A1 | c.401A>C (p.Lys134Thr)
| |
21 | g.45984442A>G | CA410516344 | COL6A1 | c.401A>G (p.Lys134Arg)
| |
21 | g.45984442A>T | CA410516346 | COL6A1 | c.401A>T (p.Lys134Met)
| |
21 | g.45984443G>A | CA513169172 | COL6A1 | c.402G>A (p.Lys134=)
| |
21 | g.45984443G>C | CA410516347 | COL6A1 | c.402G>C (p.Lys134Asn)
| ClinVar |
21 | g.45984443G>T | CA410516348 | COL6A1 | c.402G>T (p.Lys134Asn)
| |
21 | g.45984444A= | CA2392430095 | COL6A1 | c.403A= (p.Lys135=)
| |
21 | g.45984444A>C | CA10069554 | COL6A1 | c.403A>C (p.Lys135Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984444A>G | CA410516351 | COL6A1 | c.403A>G (p.Lys135Glu)
| |
21 | g.45984444A>T | CA410516350 | COL6A1 | c.403A>T (p.Lys135Ter)
| |
21 | g.45984445A>C | CA410516352 | COL6A1 | c.404A>C (p.Lys135Thr)
| |
21 | g.45984445A>G | CA410516354 | COL6A1 | c.404A>G (p.Lys135Arg)
| |
21 | g.45984445A>T | CA410516355 | COL6A1 | c.404A>T (p.Lys135Met)
| |
21 | g.45984446G>A | CA10069555 | COL6A1 | c.405G>A (p.Lys135=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984446G>C | CA410516358 | COL6A1 | c.405G>C (p.Lys135Asn)
| |
21 | g.45984446G= | CA2392430096 | COL6A1 | c.405G= (p.Lys135=)
| |
21 | g.45984446G>T | CA410516363 | COL6A1 | c.405G>T (p.Lys135Asn)
| COSMIC |
21 | g.45984447G>A | CA410516366 | COL6A1 | c.406G>A (p.Gly136Arg)
| |
21 | g.45984447G>C | CA410516368 | COL6A1 | c.406G>C (p.Gly136Arg)
| |
21 | g.45984447G>T | CA410516371 | COL6A1 | c.406G>T (p.Gly136Trp)
| gnomAD v4 |
21 | g.45984448G>A | CA410516372 | COL6A1 | c.407G>A (p.Gly136Glu)
| |
21 | g.45984448G>C | CA410516374 | COL6A1 | c.407G>C (p.Gly136Ala)
| |
21 | g.45984448G>T | CA410516375 | COL6A1 | c.407G>T (p.Gly136Val)
| gnomAD v4 |
21 | g.45984449G>A | CA513169177 | COL6A1 | c.408G>A (p.Gly136=)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984449G>C | CA513169179 | COL6A1 | c.408G>C (p.Gly136=)
| gnomAD v4 |
21 | g.45984449G= | CA2392430097 | COL6A1 | c.408G= (p.Gly136=)
| |
21 | g.45984449G>T | CA513169181 | COL6A1 | c.408G>T (p.Gly136=)
| gnomAD v4 |
21 | g.45984450C>A | CA410516377 | COL6A1 | c.409C>A (p.Leu137Met)
| |
21 | g.45984450C= | CA2392430098 | COL6A1 | c.409C= (p.Leu137=)
| |
21 | g.45984450C>G | CA10069556 | COL6A1 | c.409C>G (p.Leu137Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984450C>T | CA513169183 | COL6A1 | c.409C>T (p.Leu137=)
| |
21 | g.45984451T>A | CA410516382 | COL6A1 | c.410T>A (p.Leu137Gln)
| |
21 | g.45984451T>C | CA410516381 | COL6A1 | c.410T>C (p.Leu137Pro)
| |
21 | g.45984451T>G | CA410516380 | COL6A1 | c.410T>G (p.Leu137Arg)
| |
21 | g.45984452G>A | CA10069557 | COL6A1 | c.411G>A (p.Leu137=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984452G>C | CA513169187 | COL6A1 | c.411G>C (p.Leu137=)
| |
21 | g.45984452G= | CA2392430099 | COL6A1 | c.411G= (p.Leu137=)
| |
21 | g.45984452G>T | CA513169189 | COL6A1 | c.411G>T (p.Leu137=)
| |
21 | g.45984453G>A | CA410516386 | COL6A1 | c.412G>A (p.Glu138Lys)
| |
21 | g.45984453G>C | CA410516387 | COL6A1 | c.412G>C (p.Glu138Gln)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984453G= | CA2392430101 | COL6A1 | c.412G= (p.Glu138=)
| |
21 | g.45984453G>T | CA410516389 | COL6A1 | c.412G>T (p.Glu138Ter)
| gnomAD v4 |
21 | g.45984453_45984456delinsGAGC | CA2392430100 | COL6A1 | c.412_415delinsGAGC (p.Glu138=)
| |
21 | g.45984454A>C | CA410516391 | COL6A1 | c.413A>C (p.Glu138Ala)
| |
21 | g.45984454A>G | CA410516393 | COL6A1 | c.413A>G (p.Glu138Gly)
| |
21 | g.45984454A>T | CA410516395 | COL6A1 | c.413A>T (p.Glu138Val)
| |
21 | g.45984457_45984459del | CA2392430102 | COL6A1 | c.416_418del (p.Gln139del)
| dbSNP |
21 | g.45984455G>A | CA513169197 | COL6A1 | c.414G>A (p.Glu138=)
| ClinVar dbSNP |
21 | g.45984455G>C | CA410516397 | COL6A1 | c.414G>C (p.Glu138Asp)
| |
21 | g.45984455G= | CA2392430103 | COL6A1 | c.414G= (p.Glu138=)
| |
21 | g.45984455G>T | CA410516398 | COL6A1 | c.414G>T (p.Glu138Asp)
| |
21 | g.45984456C>A | CA410516401 | COL6A1 | c.415C>A (p.Gln139Lys)
| |
21 | g.45984456C>G | CA410516403 | COL6A1 | c.415C>G (p.Gln139Glu)
| |
21 | g.45984456C>T | CA410516404 | COL6A1 | c.415C>T (p.Gln139Ter)
| gnomAD v4 |
21 | g.45984457A>C | CA410516410 | COL6A1 | c.416A>C (p.Gln139Pro)
| |
21 | g.45984457A>G | CA410516408 | COL6A1 | c.416A>G (p.Gln139Arg)
| |
21 | g.45984457A>T | CA410516406 | COL6A1 | c.416A>T (p.Gln139Leu)
| |
21 | g.45984458G>A | CA10069558 | COL6A1 | c.417G>A (p.Gln139=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984458G>C | CA410516414 | COL6A1 | c.417G>C (p.Gln139His)
| |
21 | g.45984458G= | CA2392430104 | COL6A1 | c.417G= (p.Gln139=)
| |
21 | g.45984458G>T | CA410516415 | COL6A1 | c.417G>T (p.Gln139His)
| gnomAD v4 |
21 | g.45984459C>A | CA410516418 | COL6A1 | c.418C>A (p.Leu140Ile)
| |
21 | g.45984459C= | CA2392430105 | COL6A1 | c.418C= (p.Leu140=)
| |
21 | g.45984459C>G | CA410516420 | COL6A1 | c.418C>G (p.Leu140Val)
| |
21 | g.45984459C>T | CA10069559 | COL6A1 | c.418C>T (p.Leu140Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984460T>A | CA410516423 | COL6A1 | c.419T>A (p.Leu140His)
| |
21 | g.45984460T>C | CA410516424 | COL6A1 | c.419T>C (p.Leu140Pro)
| |
21 | g.45984460T>G | CA410516426 | COL6A1 | c.419T>G (p.Leu140Arg)
| |
21 | g.45984461C>A | CA513169204 | COL6A1 | c.420C>A (p.Leu140=)
| gnomAD v4 |
21 | g.45984461C= | CA2392430106 | COL6A1 | c.420C= (p.Leu140=)
| |
21 | g.45984461C>G | CA513169205 | COL6A1 | c.420C>G (p.Leu140=)
| |
21 | g.45984461C>T | CA10069560 | COL6A1 | c.420C>T (p.Leu140=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
21 | g.45984462C>A | CA410516430 | COL6A1 | c.421C>A (p.Leu141Ile)
| gnomAD v4 |
21 | g.45984462C>G | CA410516432 | COL6A1 | c.421C>G (p.Leu141Val)
| |
21 | g.45984462C>T | CA410516433 | COL6A1 | c.421C>T (p.Leu141Phe)
| gnomAD v4 |
21 | g.45984463T>A | CA410516438 | COL6A1 | c.422T>A (p.Leu141His)
| |
21 | g.45984463T>C | CA410516439 | COL6A1 | c.422T>C (p.Leu141Pro)
| |
21 | g.45984463T>G | CA410516436 | COL6A1 | c.422T>G (p.Leu141Arg)
| |
21 | g.45984464C>A | CA513169215 | COL6A1 | c.423C>A (p.Leu141=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984464C= | CA2392430107 | COL6A1 | c.423C= (p.Leu141=)
| |
21 | g.45984464C>G | CA513169216 | COL6A1 | c.423C>G (p.Leu141=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984464C>T | CA10069561 | COL6A1 | c.423C>T (p.Leu141=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984465G>A | CA321954926 | COL6A1 | c.424G>A (p.Val142Met)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984465G>C | CA10069562 | COL6A1 | c.424G>C (p.Val142Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984465G= | CA2392430108 | COL6A1 | c.424G= (p.Val142=)
| |
21 | g.45984465G>T | CA410516444 | COL6A1 | c.424G>T (p.Val142Leu)
| gnomAD v4 |
21 | g.45984466T>A | CA410516447 | COL6A1 | c.425T>A (p.Val142Glu)
| |
21 | g.45984466T>C | CA410516449 | COL6A1 | c.425T>C (p.Val142Ala)
| |
21 | g.45984466T>G | CA410516451 | COL6A1 | c.425T>G (p.Val142Gly)
| |
21 | g.45984466_45984467delinsTG | CA2392430109 | COL6A1 | c.425_426delinsTG (p.Val142=)
| |
21 | g.45984467G>A | CA513169221 | COL6A1 | c.426G>A (p.Val142=)
| gnomAD v4 |
21 | g.45984467G>C | CA513169222 | COL6A1 | c.426G>C (p.Val142=)
| gnomAD v4 |
21 | g.45984467G= | CA2392430110 | COL6A1 | c.426G= (p.Val142=)
| |
21 | g.45984467G>T | CA513169225 | COL6A1 | c.426G>T (p.Val142=)
| dbSNP gnomAD v4 |
21 | g.45984470del | CA10069563 | COL6A1 | c.428+1del
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984468G>A | CA10069564 | COL6A1 | c.427G>A (p.Gly143Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984468G>C | CA410516455 | COL6A1 | c.427G>C (p.Gly143Arg)
| gnomAD v4 |
21 | g.45984468G= | CA2392430111 | COL6A1 | c.427G= (p.Gly143=)
| |
21 | g.45984468G>T | CA410516457 | COL6A1 | c.427G>T (p.Gly143Trp)
| gnomAD v4 |
21 | g.45984469G>A | CA410516458 | COL6A1 | c.428G>A (p.Gly143Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984469G>C | CA410516465 | COL6A1 | c.428G>C (p.Gly143Ala)
| |
21 | g.45984469G= | CA2392430112 | COL6A1 | c.428G= (p.Gly143=)
| |
21 | g.45984469G>T | CA410516467 | COL6A1 | c.428G>T (p.Gly143Val)
| gnomAD v4 |
21 | g.45984470G>A | CA410516473 | COL6A1 | c.428+1G>A (n.428+1G>A)
| ClinVar dbSNP |
21 | g.45984470G>C | CA410516469 | COL6A1 | c.428+1G>C (n.428+1G>C)
| |
21 | g.45984470G= | CA2392430113 | COL6A1 | c.428+1G= (n.428+1G=)
| |
21 | g.45984470G>T | CA410516471 | COL6A1 | c.428+1G>T (n.428+1G>T)
| |
21 | g.45984470_45984471insGGCTCCCACC | CA513169237 | COL6A1 | c.428+1_428+2insGGCTCCCACC (n.428+1_428+2insGGCTCCCACC)
| |
21 | g.45984471T>A | CA410516476 | COL6A1 | c.428+2T>A (n.428+2T>A)
| |
21 | g.45984471T>C | CA410516477 | COL6A1 | c.428+2T>C (n.428+2T>C)
| |
21 | g.45984471T>G | CA410516479 | COL6A1 | c.428+2T>G (n.428+2T>G)
| dbSNP |
21 | g.45984471T= | CA2392430114 | COL6A1 | c.428+2T= (n.428+2T=)
| |
21 | g.45984472G>T | CA2654956334 | COL6A1 | c.428+3G>T (n.428+3G>T)
| gnomAD v4 |
21 | g.45984473A= | CA2392430115 | COL6A1 | c.428+4A= (n.428+4A=)
| |
21 | g.45984473A>G | CA10069565 | COL6A1 | c.428+4A>G (n.428+4A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |