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.23422197_23422212del | CA2624234253 | MYH7 | c.3213_3228del (p.Asn1071LysfsTer5) n.3319_3334del | gnomAD v4 |
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 | |
14 | g.23422204T>C | CA389045136 | MYH7 | c.3221A>G (p.Gln1074Arg) n.3327A>G | |
14 | g.23422204T>G | CA389045135 | MYH7 | c.3221A>C (p.Gln1074Pro) n.3327A>C | |
14 | g.23422205G>A | CA389045139 | MYH7 | c.3220C>T (p.Gln1074Ter) n.3326C>T | ClinVar |
14 | g.23422205G>C | CA389045141 | MYH7 | c.3220C>G (p.Gln1074Glu) n.3326C>G | |
14 | g.23422205G>T | CA389045143 | MYH7 | c.3220C>A (p.Gln1074Lys) n.3326C>A | |
14 | g.23422206C>A | CA389045144 | MYH7 | c.3219G>T (p.Lys1073Asn) n.3325G>T | COSMIC |
14 | g.23422206C>G | CA389045145 | MYH7 | c.3219G>C (p.Lys1073Asn) n.3325G>C | |
14 | g.23422206C>T | CA485621773 | MYH7 | c.3219G>A (p.Lys1073=) n.3325G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23422207T>A | CA389045149 | MYH7 | c.3218A>T (p.Lys1073Met) n.3324A>T | |
14 | g.23422207T>C | CA389045147 | MYH7 | c.3218A>G (p.Lys1073Arg) n.3324A>G | gnomAD v4 |
14 | g.23422207T>G | CA389045146 | MYH7 | c.3218A>C (p.Lys1073Thr) n.3324A>C | |
14 | g.23422208T>A | CA389045151 | MYH7 | c.3217A>T (p.Lys1073Ter) n.3323A>T | |
14 | g.23422208T>C | CA389045152 | MYH7 | c.3217A>G (p.Lys1073Glu) n.3323A>G | |
14 | g.23422208T>G | CA389045154 | MYH7 | c.3217A>C (p.Lys1073Gln) n.3323A>C | gnomAD v4 |
14 | g.23422209G>A | CA036170 | MYH7 | c.3216C>T (p.Asp1072=) n.3322C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422209G>C | CA389045159 | MYH7 | c.3216C>G (p.Asp1072Glu) n.3322C>G | |
14 | g.23422209G= | CA2123450537 | MYH7 | c.3216C= (p.Asp1072=) n.3322C= | |
14 | g.23422209G>T | CA389045161 | MYH7 | c.3216C>A (p.Asp1072Glu) n.3322C>A | |
14 | g.23422210T>A | CA389045167 | MYH7 | c.3215A>T (p.Asp1072Val) n.3321A>T | |
14 | g.23422210T>C | CA389045164 | MYH7 | c.3215A>G (p.Asp1072Gly) n.3321A>G | |
14 | g.23422210T>G | CA389045166 | MYH7 | c.3215A>C (p.Asp1072Ala) n.3321A>C | |
14 | g.23422211C>A | CA389045169 | MYH7 | c.3214G>T (p.Asp1072Tyr) n.3320G>T | |
14 | g.23422211C>G | CA389045170 | MYH7 | c.3214G>C (p.Asp1072His) n.3320G>C | |
14 | g.23422211C>T | CA389045171 | MYH7 | c.3214G>A (p.Asp1072Asn) n.3320G>A | |
14 | g.23422212A= | CA2123450551 | MYH7 | c.3213T= (p.Asn1071=) n.3319T= | |
14 | g.23422212A>C | CA389045173 | MYH7 | c.3213T>G (p.Asn1071Lys) n.3319T>G | |
14 | g.23422212A>G | CA485621777 | MYH7 | c.3213T>C (p.Asn1071=) n.3319T>C | ClinVar dbSNP |
14 | g.23422212A>T | CA389045175 | MYH7 | c.3213T>A (p.Asn1071Lys) n.3319T>A | gnomAD v4 |