Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23422184T>A | CA389045071 | MYH7 | c.3241A>T (p.Lys1081Ter) n.3347A>T | |
14 | g.23422184T>C | CA013486 | MYH7 | c.3241A>G (p.Lys1081Glu) n.3347A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23422184T>G | CA389045073 | MYH7 | c.3241A>C (p.Lys1081Gln) n.3347A>C | |
14 | g.23422184T= | CA2123450463 | MYH7 | c.3241A= (p.Lys1081=) n.3347A= | |
14 | g.23422185C>A | CA485621742 | MYH7 | c.3240G>T (p.Leu1080=) n.3346G>T | |
14 | g.23422185C= | CA2123450479 | MYH7 | c.3240G= (p.Leu1080=) n.3346G= | |
14 | g.23422185C>G | CA485621743 | MYH7 | c.3240G>C (p.Leu1080=) n.3346G>C | dbSNP gnomAD v4 |
14 | g.23422185C>T | CA036275 | MYH7 | c.3240G>A (p.Leu1080=) n.3346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23422189_23422200del | CA2580088199 | MYH7 | c.3229_3240del (p.Asp1077_Leu1080del) n.3335_3346del | ClinVar |
14 | g.23422186A>C | CA389045079 | MYH7 | c.3239T>G (p.Leu1080Arg) n.3345T>G | |
14 | g.23422186A>G | CA389045075 | MYH7 | c.3239T>C (p.Leu1080Pro) n.3345T>C | |
14 | g.23422186A>T | CA389045077 | MYH7 | c.3239T>A (p.Leu1080Gln) n.3345T>A | |
14 | g.23422187G>A | CA485621746 | MYH7 | c.3238C>T (p.Leu1080=) n.3344C>T | |
14 | g.23422187G>C | CA389045080 | MYH7 | c.3238C>G (p.Leu1080Val) n.3344C>G | |
14 | g.23422187G>T | CA389045082 | MYH7 | c.3238C>A (p.Leu1080Met) n.3344C>A | COSMIC |
14 | g.23422188C>A | CA485621747 | MYH7 | c.3237G>T (p.Arg1079=) n.3343G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23422188C= | CA2123450485 | MYH7 | c.3237G= (p.Arg1079=) n.3343G= | |
14 | g.23422188C>G | CA485621748 | MYH7 | c.3237G>C (p.Arg1079=) n.3343G>C | ClinVar dbSNP |
14 | g.23422188C>T | CA485621749 | MYH7 | c.3237G>A (p.Arg1079=) n.3343G>A | |
14 | g.23422189C>A | CA389045083 | MYH7 | c.3236G>T (p.Arg1079Leu) n.3342G>T | |
14 | g.23422189C= | CA2123450492 | MYH7 | c.3236G= (p.Arg1079=) n.3342G= | |
14 | g.23422189C>G | CA389045084 | MYH7 | c.3236G>C (p.Arg1079Pro) n.3342G>C | |
14 | g.23422189C>T | CA013473 | MYH7 | c.3236G>A (p.Arg1079Gln) n.3342G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422190G>A | CA013466 | MYH7 | c.3235C>T (p.Arg1079Trp) n.3341C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422190G>C | CA013459 | MYH7 | c.3235C>G (p.Arg1079Gly) n.3341C>G | ClinVar dbSNP |
14 | g.23422190G= | CA2123450500 | MYH7 | c.3235C= (p.Arg1079=) n.3341C= | |
14 | g.23422190G>T | CA036231 | MYH7 | c.3235C>A (p.Arg1079=) n.3341C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
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 |