Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.171652539A= | CA1207023265 | MYOC | c.73T= (p.Cys25=) | |
1 | g.171652539A>C | CA343719902 | MYOC | c.73T>G (p.Cys25Gly) | |
1 | g.171652539A>G | CA1244332 | MYOC | c.73T>C (p.Cys25Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.171652539A>T | CA343719904 | MYOC | c.73T>A (p.Cys25Ser) | |
1 | g.171652540G>A | CA421939231 | MYOC | c.72C>T (p.Ala24=) | |
1 | g.171652540G>C | CA421939229 | MYOC | c.72C>G (p.Ala24=) | |
1 | g.171652540G>T | CA421939230 | MYOC | c.72C>A (p.Ala24=) | |
1 | g.171652542_171652558dup | CA1244333 | MYOC | c.56_72dup (p.Cys25SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171652541G>A | CA343719910 | MYOC | c.71C>T (p.Ala24Val) | |
1 | g.171652541G>C | CA343719912 | MYOC | c.71C>G (p.Ala24Gly) | |
1 | g.171652541G= | CA1207023266 | MYOC | c.71C= (p.Ala24=) | |
1 | g.171652541G>T | CA32666885 | MYOC | c.71C>A (p.Ala24Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.171652542C>A | CA343719915 | MYOC | c.70G>T (p.Ala24Ser) | |
1 | g.171652542C>G | CA343719916 | MYOC | c.70G>C (p.Ala24Pro) | |
1 | g.171652542C>T | CA343719919 | MYOC | c.70G>A (p.Ala24Thr) | |
1 | g.171652543C>A | CA421939233 | MYOC | c.69G>T (p.Leu23=) | |
1 | g.171652543C>G | CA421939234 | MYOC | c.69G>C (p.Leu23=) | |
1 | g.171652543C>T | CA421939236 | MYOC | c.69G>A (p.Leu23=) | |
1 | g.171652544A>C | CA343719921 | MYOC | c.68T>G (p.Leu23Arg) | |
1 | g.171652544A>G | CA343719924 | MYOC | c.68T>C (p.Leu23Pro) | |
1 | g.171652544A>T | CA343719926 | MYOC | c.68T>A (p.Leu23Gln) | |
1 | g.171652545G>A | CA421939243 | MYOC | c.67C>T (p.Leu23=) | |
1 | g.171652545G>C | CA343719929 | MYOC | c.67C>G (p.Leu23Val) | |
1 | g.171652545G>T | CA343719931 | MYOC | c.67C>A (p.Leu23Met) | |
1 | g.171652545_171652546delinsGA | CA1207023267 | MYOC | c.66_67delinsTC (p.Leu22=) | |
1 | g.171652546A>C | CA421939250 | MYOC | c.66T>G (p.Leu22=) | |
1 | g.171652546A>G | CA421939251 | MYOC | c.66T>C (p.Leu22=) | |
1 | g.171652546A>T | CA421939252 | MYOC | c.66T>A (p.Leu22=) | |
1 | g.171652546_171652547delinsAA | CA1148420620 | MYOC | c.65_66delinsTT (p.Leu22=) | |
1 | g.171652547del | CA1244334 | MYOC | c.66del (p.Leu23TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171652547A>C | CA343719935 | MYOC | c.65T>G (p.Leu22Arg) | |
1 | g.171652547A>G | CA343719939 | MYOC | c.65T>C (p.Leu22Pro) | |
1 | g.171652547A>T | CA343719937 | MYOC | c.65T>A (p.Leu22His) | |
1 | g.171652548G>A | CA343719941 | MYOC | c.64C>T (p.Leu22Phe) | |
1 | g.171652548G>C | CA343719943 | MYOC | c.64C>G (p.Leu22Val) | |
1 | g.171652548G>T | CA343719945 | MYOC | c.64C>A (p.Leu22Ile) | |
1 | g.171652549C>A | CA421939261 | MYOC | c.63G>T (p.Leu21=) | |
1 | g.171652549C>G | CA421939262 | MYOC | c.63G>C (p.Leu21=) | |
1 | g.171652549C>T | CA421939263 | MYOC | c.63G>A (p.Leu21=) | |
1 | g.171652550A>C | CA343719947 | MYOC | c.62T>G (p.Leu21Arg) | |
1 | g.171652550A>G | CA343719949 | MYOC | c.62T>C (p.Leu21Pro) | |
1 | g.171652550A>T | CA343719950 | MYOC | c.62T>A (p.Leu21Gln) | |
1 | g.171652551G>A | CA1244335 | MYOC | c.61C>T (p.Leu21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171652551G>C | CA343719955 | MYOC | c.61C>G (p.Leu21Val) | |
1 | g.171652551G= | CA1207023268 | MYOC | c.61C= (p.Leu21=) | |
1 | g.171652551G>T | CA343719957 | MYOC | c.61C>A (p.Leu21Met) | |
1 | g.171652552C>A | CA421939266 | MYOC | c.60G>T (p.Leu20=) | |
1 | g.171652552C>G | CA421939268 | MYOC | c.60G>C (p.Leu20=) | |
1 | g.171652552C>T | CA421939269 | MYOC | c.60G>A (p.Leu20=) | |
1 | g.171652553A>C | CA343719966 | MYOC | c.59T>G (p.Leu20Arg) |