Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.121447328T>A | CA365559104 | GJA1 | c.481T>A (p.Phe161Ile) | |
6 | g.121447328T>C | CA365559105 | GJA1 | c.481T>C (p.Phe161Leu) | |
6 | g.121447328T>G | CA365559106 | GJA1 | c.481T>G (p.Phe161Val) | |
6 | g.121447329T>A | CA365559107 | GJA1 | c.482T>A (p.Phe161Tyr) | |
6 | g.121447329T>C | CA365559108 | GJA1 | c.482T>C (p.Phe161Ser) | |
6 | g.121447329T>G | CA365559109 | GJA1 | c.482T>G (p.Phe161Cys) | |
6 | g.121447330C>A | CA365559110 | GJA1 | c.483C>A (p.Phe161Leu) | |
6 | g.121447330C= | CA1659501614 | GJA1 | c.483C= (p.Phe161=) | |
6 | g.121447330C>G | CA3981694 | GJA1 | c.483C>G (p.Phe161Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447330C>T | CA452134119 | GJA1 | c.483C>T (p.Phe161=) | |
6 | g.121447331A>C | CA365559111 | GJA1 | c.484A>C (p.Lys162Gln) | |
6 | g.121447331A>G | CA365559112 | GJA1 | c.484A>G (p.Lys162Glu) | |
6 | g.121447331A>T | CA365559113 | GJA1 | c.484A>T (p.Lys162Ter) | |
6 | g.121447332A>C | CA365559114 | GJA1 | c.485A>C (p.Lys162Thr) | |
6 | g.121447332A>G | CA365559115 | GJA1 | c.485A>G (p.Lys162Arg) | |
6 | g.121447332A>T | CA365559116 | GJA1 | c.485A>T (p.Lys162Met) | |
6 | g.121447333G>A | CA452134123 | GJA1 | c.486G>A (p.Lys162=) | gnomAD v4 |
6 | g.121447333G>C | CA16043411 | GJA1 | c.486G>C (p.Lys162Asn) | ClinVar dbSNP |
6 | g.121447333G= | CA1659501615 | GJA1 | c.486G= (p.Lys162=) | |
6 | g.121447333G>T | CA365559117 | GJA1 | c.486G>T (p.Lys162Asn) | |
6 | g.121447334T>A | CA365559118 | GJA1 | c.487T>A (p.Ser163Thr) | |
6 | g.121447334T>C | CA365559119 | GJA1 | c.487T>C (p.Ser163Pro) | |
6 | g.121447334T>G | CA365559120 | GJA1 | c.487T>G (p.Ser163Ala) | |
6 | g.121447335C>A | CA365559121 | GJA1 | c.488C>A (p.Ser163Tyr) | |
6 | g.121447335C= | CA1659501616 | GJA1 | c.488C= (p.Ser163=) | |
6 | g.121447335C>G | CA365559123 | GJA1 | c.488C>G (p.Ser163Cys) | |
6 | g.121447335C>T | CA365559122 | GJA1 | c.488C>T (p.Ser163Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447336T>A | CA452134126 | GJA1 | c.489T>A (p.Ser163=) | ClinVar |
6 | g.121447336T>C | CA452134127 | GJA1 | c.489T>C (p.Ser163=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447336T>G | CA452134129 | GJA1 | c.489T>G (p.Ser163=) | |
6 | g.121447336T= | CA1659501617 | GJA1 | c.489T= (p.Ser163=) | |
6 | g.121447337A= | CA1659501618 | GJA1 | c.490A= (p.Ile164=) | |
6 | g.121447337A>C | CA365559124 | GJA1 | c.490A>C (p.Ile164Leu) | |
6 | g.121447337A>G | CA365559126 | GJA1 | c.490A>G (p.Ile164Val) | dbSNP gnomAD v4 |
6 | g.121447337A>T | CA365559125 | GJA1 | c.490A>T (p.Ile164Phe) | |
6 | g.121447338T>A | CA365559127 | GJA1 | c.491T>A (p.Ile164Asn) | |
6 | g.121447338T>C | CA365559128 | GJA1 | c.491T>C (p.Ile164Thr) | gnomAD v4 |
6 | g.121447338T>G | CA365559129 | GJA1 | c.491T>G (p.Ile164Ser) | |
6 | g.121447339C>A | CA452134135 | GJA1 | c.492C>A (p.Ile164=) | |
6 | g.121447339C= | CA1659501619 | GJA1 | c.492C= (p.Ile164=) | |
6 | g.121447339C>G | CA365559130 | GJA1 | c.492C>G (p.Ile164Met) | |
6 | g.121447339C>T | CA452134136 | GJA1 | c.492C>T (p.Ile164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447340T>A | CA365559131 | GJA1 | c.493T>A (p.Phe165Ile) | dbSNP gnomAD v2 |
6 | g.121447340T>C | CA365559132 | GJA1 | c.493T>C (p.Phe165Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447340T>G | CA365559133 | GJA1 | c.493T>G (p.Phe165Val) | |
6 | g.121447340T= | CA1659501620 | GJA1 | c.493T= (p.Phe165=) | |
6 | g.121447341T>A | CA365559134 | GJA1 | c.494T>A (p.Phe165Tyr) | |
6 | g.121447341T>C | CA365559135 | GJA1 | c.494T>C (p.Phe165Ser) | gnomAD v4 |
6 | g.121447341T>G | CA365559136 | GJA1 | c.494T>G (p.Phe165Cys) | |
6 | g.121447342T>A | CA365559137 | GJA1 | c.495T>A (p.Phe165Leu) |