Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23422189_23422200del | CA2580088199 | MYH7 | c.3229_3240del (p.Asp1077_Leu1080del) n.3335_3346del | ClinVar |
14 | g.23422191del | CA2573149852 | MYH7 | c.3234del (p.Glu1078AspfsTer3) n.3340del | dbSNP |
14 | g.23422191C>A | CA389045088 | MYH7 | c.3234G>T (p.Glu1078Asp) n.3340G>T | gnomAD v4 |
14 | g.23422191C= | CA2123450504 | MYH7 | c.3234G= (p.Glu1078=) n.3340G= | |
14 | g.23422191C>G | CA389045089 | MYH7 | c.3234G>C (p.Glu1078Asp) n.3340G>C | |
14 | g.23422191C>T | CA485621753 | MYH7 | c.3234G>A (p.Glu1078=) n.3340G>A | dbSNP |
14 | g.23422192T>A | CA389045095 | MYH7 | c.3233A>T (p.Glu1078Val) n.3339A>T | |
14 | g.23422192T>C | CA389045093 | MYH7 | c.3233A>G (p.Glu1078Gly) n.3339A>G | |
14 | g.23422192T>G | CA389045092 | MYH7 | c.3233A>C (p.Glu1078Ala) n.3339A>C | gnomAD v4 |
14 | g.23422193C>A | CA389045097 | MYH7 | c.3232G>T (p.Glu1078Ter) n.3338G>T | |
14 | g.23422193C>G | CA389045099 | MYH7 | c.3232G>C (p.Glu1078Gln) n.3338G>C | COSMIC |
14 | g.23422193C>T | CA389045100 | MYH7 | c.3232G>A (p.Glu1078Lys) n.3338G>A | |
14 | g.23422194A= | CA2123450506 | MYH7 | c.3231T= (p.Asp1077=) n.3337T= | |
14 | g.23422194A>C | CA389045101 | MYH7 | c.3231T>G (p.Asp1077Glu) n.3337T>G | dbSNP |
14 | g.23422194A>G | CA485621755 | MYH7 | c.3231T>C (p.Asp1077=) n.3337T>C | |
14 | g.23422194A>T | CA389045103 | MYH7 | c.3231T>A (p.Asp1077Glu) n.3337T>A | dbSNP gnomAD v2 |
14 | g.23422195T>A | CA389045104 | MYH7 | c.3230A>T (p.Asp1077Val) n.3336A>T | |
14 | g.23422195T>C | CA389045106 | MYH7 | c.3230A>G (p.Asp1077Gly) n.3336A>G | |
14 | g.23422195T>G | CA389045107 | MYH7 | c.3230A>C (p.Asp1077Ala) n.3336A>C | |
14 | g.23422196C>A | CA036217 | MYH7 | c.3229G>T (p.Asp1077Tyr) n.3335G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23422196C= | CA2123450511 | MYH7 | c.3229G= (p.Asp1077=) n.3335G= | |
14 | g.23422196C>G | CA389045108 | MYH7 | c.3229G>C (p.Asp1077His) n.3335G>C | |
14 | g.23422196C>T | CA389045109 | MYH7 | c.3229G>A (p.Asp1077Asn) n.3335G>A | |
14 | g.23422197C>A | CA485621758 | MYH7 | c.3228G>T (p.Leu1076=) n.3334G>T | |
14 | g.23422197C>G | CA485621760 | MYH7 | c.3228G>C (p.Leu1076=) n.3334G>C | |
14 | g.23422197C>T | CA485621762 | MYH7 | c.3228G>A (p.Leu1076=) n.3334G>A | |
14 | g.23422197_23422212del | CA2624234253 | MYH7 | c.3213_3228del (p.Asn1071LysfsTer5) n.3319_3334del | gnomAD v4 |
14 | g.23422198A>C | CA389045111 | MYH7 | c.3227T>G (p.Leu1076Arg) n.3333T>G | |
14 | g.23422198A>G | CA389045112 | MYH7 | c.3227T>C (p.Leu1076Pro) n.3333T>C | |
14 | g.23422198A>T | CA389045114 | MYH7 | c.3227T>A (p.Leu1076Gln) n.3333T>A | |
14 | g.23422199G>A | CA485621764 | MYH7 | c.3226C>T (p.Leu1076=) n.3332C>T | dbSNP gnomAD v4 |
14 | g.23422199G>C | CA389045116 | MYH7 | c.3226C>G (p.Leu1076Val) n.3332C>G | |
14 | g.23422199G= | CA2123450517 | MYH7 | c.3226C= (p.Leu1076=) n.3332C= | |
14 | g.23422199G>T | CA389045117 | MYH7 | c.3226C>A (p.Leu1076Met) n.3332C>A | |
14 | g.23422200C>A | CA389045119 | MYH7 | c.3225G>T (p.Gln1075His) n.3331G>T | |
14 | g.23422200C= | CA2123450522 | MYH7 | c.3225G= (p.Gln1075=) n.3331G= | |
14 | g.23422200C>G | CA389045120 | MYH7 | c.3225G>C (p.Gln1075His) n.3331G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23422200C>T | CA036190 | MYH7 | c.3225G>A (p.Gln1075=) n.3331G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23422201T>A | CA389045122 | MYH7 | c.3224A>T (p.Gln1075Leu) n.3330A>T | |
14 | g.23422201T>C | CA389045123 | MYH7 | c.3224A>G (p.Gln1075Arg) n.3330A>G | |
14 | g.23422201T>G | CA389045125 | MYH7 | c.3224A>C (p.Gln1075Pro) n.3330A>C | |
14 | g.23422202G>A | CA389045127 | MYH7 | c.3223C>T (p.Gln1075Ter) n.3329C>T | gnomAD v4 |
14 | g.23422202G>C | CA257817897 | MYH7 | c.3223C>G (p.Gln1075Glu) n.3329C>G | ClinVar dbSNP gnomAD v4 |
14 | g.23422202G= | CA2123450526 | MYH7 | c.3223C= (p.Gln1075=) n.3329C= | |
14 | g.23422202G>T | CA389045129 | MYH7 | c.3223C>A (p.Gln1075Lys) n.3329C>A | |
14 | g.23422203C>A | CA389045131 | MYH7 | c.3222G>T (p.Gln1074His) n.3328G>T | |
14 | g.23422203C= | CA2123450529 | MYH7 | c.3222G= (p.Gln1074=) n.3328G= | |
14 | g.23422203C>G | CA389045133 | MYH7 | c.3222G>C (p.Gln1074His) n.3328G>C | |
14 | g.23422203C>T | CA485621769 | MYH7 | c.3222G>A (p.Gln1074=) n.3328G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23422204T>A | CA389045138 | MYH7 | c.3221A>T (p.Gln1074Leu) n.3327A>T |