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)
| |
6 | g.121447342T>C | CA452134140 | GJA1 | c.495T>C (p.Phe165=)
| |
6 | g.121447342T>G | CA365559138 | GJA1 | c.495T>G (p.Phe165Leu)
| |
6 | g.121447343G>A | CA365559141 | GJA1 | c.496G>A (p.Glu166Lys)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447343G>C | CA365559139 | GJA1 | c.496G>C (p.Glu166Gln)
| |
6 | g.121447343G= | CA1659501621 | GJA1 | c.496G= (p.Glu166=)
| |
6 | g.121447343G>T | CA365559140 | GJA1 | c.496G>T (p.Glu166Ter)
| |
6 | g.121447344A>C | CA365559142 | GJA1 | c.497A>C (p.Glu166Ala)
| |
6 | g.121447344A>G | CA365559143 | GJA1 | c.497A>G (p.Glu166Gly)
| |
6 | g.121447344A>T | CA365559144 | GJA1 | c.497A>T (p.Glu166Val)
| |
6 | g.121447345G>A | CA452134146 | GJA1 | c.498G>A (p.Glu166=)
| |
6 | g.121447345G>C | CA365559145 | GJA1 | c.498G>C (p.Glu166Asp)
| dbSNP gnomAD v2 |
6 | g.121447345G= | CA1659501622 | GJA1 | c.498G= (p.Glu166=)
| |
6 | g.121447345G>T | CA365559146 | GJA1 | c.498G>T (p.Glu166Asp)
| |
6 | g.121447346G>A | CA365559147 | GJA1 | c.499G>A (p.Val167Met)
| |
6 | g.121447346G>C | CA365559148 | GJA1 | c.499G>C (p.Val167Leu)
| |
6 | g.121447346G>T | CA365559149 | GJA1 | c.499G>T (p.Val167Leu)
| |
6 | g.121447347T>A | CA365559150 | GJA1 | c.500T>A (p.Val167Glu)
| |
6 | g.121447347T>C | CA365559151 | GJA1 | c.500T>C (p.Val167Ala)
| |
6 | g.121447347T>G | CA365559152 | GJA1 | c.500T>G (p.Val167Gly)
| |
6 | g.121447348G>A | CA146810028 | GJA1 | c.501G>A (p.Val167=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447348G>C | CA452134153 | GJA1 | c.501G>C (p.Val167=)
| |
6 | g.121447348G= | CA1659501623 | GJA1 | c.501G= (p.Val167=)
| |
6 | g.121447348G>T | CA452134151 | GJA1 | c.501G>T (p.Val167=)
| gnomAD v4 |
6 | g.121447349G>A | CA146810029 | GJA1 | c.502G>A (p.Ala168Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.121447349G>C | CA365559153 | GJA1 | c.502G>C (p.Ala168Pro)
| |
6 | g.121447349G= | CA1659501624 | GJA1 | c.502G= (p.Ala168=)
| |
6 | g.121447349G>T | CA365559154 | GJA1 | c.502G>T (p.Ala168Ser)
| |
6 | g.121447350C>A | CA365559155 | GJA1 | c.503C>A (p.Ala168Asp)
| |
6 | g.121447350C= | CA1659501625 | GJA1 | c.503C= (p.Ala168=)
| |
6 | g.121447350C>G | CA365559156 | GJA1 | c.503C>G (p.Ala168Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447350C>T | CA365559157 | GJA1 | c.503C>T (p.Ala168Val)
| gnomAD v4 |
6 | g.121447351C>A | CA452134168 | GJA1 | c.504C>A (p.Ala168=)
| |
6 | g.121447351C= | CA1659501626 | GJA1 | c.504C= (p.Ala168=)
| |
6 | g.121447351C>G | CA452134171 | GJA1 | c.504C>G (p.Ala168=)
| |
6 | g.121447351C>T | CA452134169 | GJA1 | c.504C>T (p.Ala168=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447354_121447356del | CA2695206911 | GJA1 | c.507_509del (p.Phe169del)
| |
6 | g.121447352T>A | CA365559158 | GJA1 | c.505T>A (p.Phe169Ile)
| |
6 | g.121447352T>C | CA365559159 | GJA1 | c.505T>C (p.Phe169Leu)
| |
6 | g.121447352T>G | CA365559160 | GJA1 | c.505T>G (p.Phe169Val)
| |
6 | g.121447353T>A | CA365559161 | GJA1 | c.506T>A (p.Phe169Tyr)
| |
6 | g.121447353T>C | CA365559162 | GJA1 | c.506T>C (p.Phe169Ser)
| |
6 | g.121447353T>G | CA365559163 | GJA1 | c.506T>G (p.Phe169Cys)
| |
6 | g.121447354C>A | CA365559165 | GJA1 | c.507C>A (p.Phe169Leu)
| gnomAD v4 |
6 | g.121447354C= | CA1659501627 | GJA1 | c.507C= (p.Phe169=)
| |
6 | g.121447354C>G | CA365559164 | GJA1 | c.507C>G (p.Phe169Leu)
| |
6 | g.121447354C>T | CA3981695 | GJA1 | c.507C>T (p.Phe169=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447355T>A | CA365559166 | GJA1 | c.508T>A (p.Leu170Met)
| |
6 | g.121447355T>C | CA452134180 | GJA1 | c.508T>C (p.Leu170=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447355T>G | CA3981696 | GJA1 | c.508T>G (p.Leu170Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447355T= | CA1659501628 | GJA1 | c.508T= (p.Leu170=)
| |
6 | g.121447356T>A | CA365559167 | GJA1 | c.509T>A (p.Leu170Ter)
| |
6 | g.121447356T>C | CA365559168 | GJA1 | c.509T>C (p.Leu170Ser)
| |
6 | g.121447356T>G | CA365559169 | GJA1 | c.509T>G (p.Leu170Trp)
| |
6 | g.121447357G>A | CA452134189 | GJA1 | c.510G>A (p.Leu170=)
| |
6 | g.121447357G>C | CA365559170 | GJA1 | c.510G>C (p.Leu170Phe)
| COSMIC |
6 | g.121447357G= | CA1659501629 | GJA1 | c.510G= (p.Leu170=)
| |
6 | g.121447357G>T | CA3981697 | GJA1 | c.510G>T (p.Leu170Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447358C>A | CA365559171 | GJA1 | c.511C>A (p.Leu171Met)
| |
6 | g.121447358C>G | CA365559172 | GJA1 | c.511C>G (p.Leu171Val)
| |
6 | g.121447358C>T | CA452134195 | GJA1 | c.511C>T (p.Leu171=)
| |
6 | g.121447359T>A | CA365559173 | GJA1 | c.512T>A (p.Leu171Gln)
| |
6 | g.121447359T>C | CA365559174 | GJA1 | c.512T>C (p.Leu171Pro)
| |
6 | g.121447359T>G | CA365559175 | GJA1 | c.512T>G (p.Leu171Arg)
| |
6 | g.121447360G>A | CA452134197 | GJA1 | c.513G>A (p.Leu171=)
| |
6 | g.121447360G>C | CA452134198 | GJA1 | c.513G>C (p.Leu171=)
| |
6 | g.121447360G>T | CA452134200 | GJA1 | c.513G>T (p.Leu171=)
| |
6 | g.121447361A>C | CA365559178 | GJA1 | c.514A>C (p.Ile172Leu)
| |
6 | g.121447361A>G | CA365559177 | GJA1 | c.514A>G (p.Ile172Val)
| |
6 | g.121447361A>T | CA365559176 | GJA1 | c.514A>T (p.Ile172Phe)
| |
6 | g.121447361_121447362delinsAT | CA1659501630 | GJA1 | c.514_515delinsAT (p.Ile172=)
| |
6 | g.121447362del | CA3981698 | GJA1 | c.515del (p.Ile172ThrfsTer10)
| dbSNP ExAC |
6 | g.121447362T>A | CA365559179 | GJA1 | c.515T>A (p.Ile172Asn)
| |
6 | g.121447362T>C | CA365559180 | GJA1 | c.515T>C (p.Ile172Thr)
| |
6 | g.121447362T>G | CA365559181 | GJA1 | c.515T>G (p.Ile172Ser)
| |
6 | g.121447363C>A | CA452134208 | GJA1 | c.516C>A (p.Ile172=)
| |
6 | g.121447363C>G | CA365559182 | GJA1 | c.516C>G (p.Ile172Met)
| |
6 | g.121447363C>T | CA452134210 | GJA1 | c.516C>T (p.Ile172=)
| |
6 | g.121447364C>A | CA365559183 | GJA1 | c.517C>A (p.Gln173Lys)
| |
6 | g.121447364C>G | CA365559184 | GJA1 | c.517C>G (p.Gln173Glu)
| |
6 | g.121447364C>T | CA365559185 | GJA1 | c.517C>T (p.Gln173Ter)
| |
6 | g.121447365A>C | CA365559186 | GJA1 | c.518A>C (p.Gln173Pro)
| |
6 | g.121447365A>G | CA365559187 | GJA1 | c.518A>G (p.Gln173Arg)
| |
6 | g.121447365A>T | CA365559188 | GJA1 | c.518A>T (p.Gln173Leu)
| gnomAD v4 |
6 | g.121447366G>A | CA452134217 | GJA1 | c.519G>A (p.Gln173=)
| |
6 | g.121447366G>C | CA365559189 | GJA1 | c.519G>C (p.Gln173His)
| |
6 | g.121447366G>T | CA365559190 | GJA1 | c.519G>T (p.Gln173His)
| |
6 | g.121447367T>A | CA365559193 | GJA1 | c.520T>A (p.Trp174Arg)
| |
6 | g.121447367T>C | CA365559192 | GJA1 | c.520T>C (p.Trp174Arg)
| |
6 | g.121447367T>G | CA365559191 | GJA1 | c.520T>G (p.Trp174Gly)
| gnomAD v4 |
6 | g.121447368G>A | CA365559194 | GJA1 | c.521G>A (p.Trp174Ter)
| |
6 | g.121447368G>C | CA365559195 | GJA1 | c.521G>C (p.Trp174Ser)
| |
6 | g.121447368G= | CA1659501631 | GJA1 | c.521G= (p.Trp174=)
| |
6 | g.121447368G>T | CA3981699 | GJA1 | c.521G>T (p.Trp174Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.121447369G>A | CA365559196 | GJA1 | c.522G>A (p.Trp174Ter)
| gnomAD v4 |
6 | g.121447369G>C | CA365559197 | GJA1 | c.522G>C (p.Trp174Cys)
| |
6 | g.121447369G>T | CA365559198 | GJA1 | c.522G>T (p.Trp174Cys)
| |
6 | g.121447370T>A | CA365559199 | GJA1 | c.523T>A (p.Tyr175Asn)
| |
6 | g.121447370T>C | CA365559200 | GJA1 | c.523T>C (p.Tyr175His)
| |
6 | g.121447370T>G | CA365559201 | GJA1 | c.523T>G (p.Tyr175Asp)
| gnomAD v4 |
6 | g.121447371A>C | CA365559202 | GJA1 | c.524A>C (p.Tyr175Ser)
| |
6 | g.121447371A>G | CA365559203 | GJA1 | c.524A>G (p.Tyr175Cys)
| |
6 | g.121447371A>T | CA365559204 | GJA1 | c.524A>T (p.Tyr175Phe)
| |
6 | g.121447372C>A | CA365559205 | GJA1 | c.525C>A (p.Tyr175Ter)
| gnomAD v4 |
6 | g.121447372C= | CA1659501632 | GJA1 | c.525C= (p.Tyr175=)
| |
6 | g.121447372C>G | CA365559206 | GJA1 | c.525C>G (p.Tyr175Ter)
| |
6 | g.121447372C>T | CA452133858 | GJA1 | c.525C>T (p.Tyr175=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447373A= | CA1659501633 | GJA1 | c.526A= (p.Ile176=)
| |
6 | g.121447373A>C | CA365559208 | GJA1 | c.526A>C (p.Ile176Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447373A>G | CA10582442 | GJA1 | c.526A>G (p.Ile176Val)
| ClinVar dbSNP |
6 | g.121447373A>T | CA365559207 | GJA1 | c.526A>T (p.Ile176Phe)
| |
6 | g.121447374T>A | CA365559209 | GJA1 | c.527T>A (p.Ile176Asn)
| ClinVar dbSNP |
6 | g.121447374T>C | CA3981700 | GJA1 | c.527T>C (p.Ile176Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.121447374T>G | CA365559210 | GJA1 | c.527T>G (p.Ile176Ser)
| |
6 | g.121447374T= | CA1659501634 | GJA1 | c.527T= (p.Ile176=)
| |
6 | g.121447375C>A | CA3981701 | GJA1 | c.528C>A (p.Ile176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447375C= | CA1659501635 | GJA1 | c.528C= (p.Ile176=)
| |
6 | g.121447375C>G | CA3981702 | GJA1 | c.528C>G (p.Ile176Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.121447375C>T | CA452133862 | GJA1 | c.528C>T (p.Ile176=)
| |
6 | g.121447376T>A | CA365559213 | GJA1 | c.529T>A (p.Tyr177Asn)
| |
6 | g.121447376T>C | CA365559212 | GJA1 | c.529T>C (p.Tyr177His)
| |
6 | g.121447376T>G | CA365559211 | GJA1 | c.529T>G (p.Tyr177Asp)
| |
6 | g.121447377A>C | CA365559214 | GJA1 | c.530A>C (p.Tyr177Ser)
| |
6 | g.121447377A>G | CA365559215 | GJA1 | c.530A>G (p.Tyr177Cys)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.121447377A>T | CA365559216 | GJA1 | c.530A>T (p.Tyr177Phe)
| |
6 | g.121447378T>A | CA365559217 | GJA1 | c.531T>A (p.Tyr177Ter)
| |
6 | g.121447378T>C | CA3981703 | GJA1 | c.531T>C (p.Tyr177=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447378T>G | CA365559218 | GJA1 | c.531T>G (p.Tyr177Ter)
| |
6 | g.121447378T= | CA1659501636 | GJA1 | c.531T= (p.Tyr177=)
| |
6 | g.121447379G>A | CA365559219 | GJA1 | c.532G>A (p.Gly178Arg)
| |
6 | g.121447379G>C | CA365559221 | GJA1 | c.532G>C (p.Gly178Arg)
| |
6 | g.121447379G>T | CA365559220 | GJA1 | c.532G>T (p.Gly178Ter)
| |
6 | g.121447380G>A | CA365559222 | GJA1 | c.533G>A (p.Gly178Glu)
| COSMIC |
6 | g.121447380G>C | CA365559223 | GJA1 | c.533G>C (p.Gly178Ala)
| |
6 | g.121447380G>T | CA365559224 | GJA1 | c.533G>T (p.Gly178Val)
| |
6 | g.121447381A>C | CA452133866 | GJA1 | c.534A>C (p.Gly178=)
| |
6 | g.121447381A>G | CA452133867 | GJA1 | c.534A>G (p.Gly178=)
| |
6 | g.121447381A>T | CA452133868 | GJA1 | c.534A>T (p.Gly178=)
| |
6 | g.121447382T>A | CA365559225 | GJA1 | c.535T>A (p.Phe179Ile)
| |
6 | g.121447382T>C | CA365559226 | GJA1 | c.535T>C (p.Phe179Leu)
| |
6 | g.121447382T>G | CA365559227 | GJA1 | c.535T>G (p.Phe179Val)
| |
6 | g.121447383T>A | CA365559228 | GJA1 | c.536T>A (p.Phe179Tyr)
| gnomAD v4 |
6 | g.121447383T>C | CA365559229 | GJA1 | c.536T>C (p.Phe179Ser)
| |
6 | g.121447383T>G | CA365559230 | GJA1 | c.536T>G (p.Phe179Cys)
| |
6 | g.121447384C>A | CA365559231 | GJA1 | c.537C>A (p.Phe179Leu)
| |
6 | g.121447384C>G | CA365559232 | GJA1 | c.537C>G (p.Phe179Leu)
| |
6 | g.121447384C>T | CA452133875 | GJA1 | c.537C>T (p.Phe179=)
| |
6 | g.121447385A>C | CA365559233 | GJA1 | c.538A>C (p.Ser180Arg)
| |
6 | g.121447385A>G | CA365559235 | GJA1 | c.538A>G (p.Ser180Gly)
| |
6 | g.121447385A>T | CA365559234 | GJA1 | c.538A>T (p.Ser180Cys)
| |
6 | g.121447386G>A | CA365559236 | GJA1 | c.539G>A (p.Ser180Asn)
| |
6 | g.121447386G>C | CA365559237 | GJA1 | c.539G>C (p.Ser180Thr)
| |
6 | g.121447386G>T | CA365559238 | GJA1 | c.539G>T (p.Ser180Ile)
| ClinVar |
6 | g.121447387C>A | CA365559239 | GJA1 | c.540C>A (p.Ser180Arg)
| gnomAD v4 |
6 | g.121447387C>G | CA365559240 | GJA1 | c.540C>G (p.Ser180Arg)
| |
6 | g.121447387C>T | CA452133880 | GJA1 | c.540C>T (p.Ser180=)
| gnomAD v4 |
6 | g.121447388T>A | CA365559241 | GJA1 | c.541T>A (p.Leu181Met)
| |
6 | g.121447388T>C | CA452133882 | GJA1 | c.541T>C (p.Leu181=)
| |
6 | g.121447388T>G | CA365559242 | GJA1 | c.541T>G (p.Leu181Val)
| |
6 | g.121447389T>A | CA365559245 | GJA1 | c.542T>A (p.Leu181Ter)
| |
6 | g.121447389T>C | CA365559243 | GJA1 | c.542T>C (p.Leu181Ser)
| |
6 | g.121447389T>G | CA365559244 | GJA1 | c.542T>G (p.Leu181Trp)
| |
6 | g.121447390G>A | CA452133884 | GJA1 | c.543G>A (p.Leu181=)
| |
6 | g.121447390G>C | CA365559246 | GJA1 | c.543G>C (p.Leu181Phe)
| |
6 | g.121447390G>T | CA365559247 | GJA1 | c.543G>T (p.Leu181Phe)
| |
6 | g.121447391A>C | CA365559248 | GJA1 | c.544A>C (p.Ser182Arg)
| |
6 | g.121447391A>G | CA365559249 | GJA1 | c.544A>G (p.Ser182Gly)
| gnomAD v4 |
6 | g.121447391A>T | CA365559250 | GJA1 | c.544A>T (p.Ser182Cys)
| |
6 | g.121447392G>A | CA365559251 | GJA1 | c.545G>A (p.Ser182Asn)
| ClinVar gnomAD v4 |
6 | g.121447392G>C | CA365559253 | GJA1 | c.545G>C (p.Ser182Thr)
| |
6 | g.121447392G>T | CA365559252 | GJA1 | c.545G>T (p.Ser182Ile)
| |
6 | g.121447393T>A | CA365559254 | GJA1 | c.546T>A (p.Ser182Arg)
| |
6 | g.121447393T>C | CA452133890 | GJA1 | c.546T>C (p.Ser182=)
| gnomAD v4 |
6 | g.121447393T>G | CA365559255 | GJA1 | c.546T>G (p.Ser182Arg)
| gnomAD v4 |
6 | g.121447394G>A | CA365559256 | GJA1 | c.547G>A (p.Ala183Thr)
| dbSNP |
6 | g.121447394G>C | CA365559257 | GJA1 | c.547G>C (p.Ala183Pro)
| |
6 | g.121447394G= | CA1659501637 | GJA1 | c.547G= (p.Ala183=)
| |
6 | g.121447394G>T | CA365559258 | GJA1 | c.547G>T (p.Ala183Ser)
| |
6 | g.121447395C>A | CA365559259 | GJA1 | c.548C>A (p.Ala183Asp)
| COSMIC |
6 | g.121447395C>G | CA365559260 | GJA1 | c.548C>G (p.Ala183Gly)
| |
6 | g.121447395C>T | CA365559261 | GJA1 | c.548C>T (p.Ala183Val)
| |
6 | g.121447396T>A | CA452133892 | GJA1 | c.549T>A (p.Ala183=)
| COSMIC |
6 | g.121447396T>C | CA452133893 | GJA1 | c.549T>C (p.Ala183=)
| gnomAD v4 |
6 | g.121447396T>G | CA452133894 | GJA1 | c.549T>G (p.Ala183=)
| |
6 | g.121447397G>A | CA365559262 | GJA1 | c.550G>A (p.Val184Ile)
| gnomAD v4 |
6 | g.121447397G>C | CA365559263 | GJA1 | c.550G>C (p.Val184Leu)
| |
6 | g.121447397G>T | CA365559264 | GJA1 | c.550G>T (p.Val184Phe)
| |
6 | g.121447398T>A | CA365559265 | GJA1 | c.551T>A (p.Val184Asp)
| |
6 | g.121447398T>C | CA365559267 | GJA1 | c.551T>C (p.Val184Ala)
| |
6 | g.121447398T>G | CA365559266 | GJA1 | c.551T>G (p.Val184Gly)
| |
6 | g.121447399T>A | CA452133898 | GJA1 | c.552T>A (p.Val184=)
| |
6 | g.121447399T>C | CA452133900 | GJA1 | c.552T>C (p.Val184=)
| |
6 | g.121447399T>G | CA3981704 | GJA1 | c.552T>G (p.Val184=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.121447399T= | CA1659501638 | GJA1 | c.552T= (p.Val184=)
| |
6 | g.121447400T>A | CA365559268 | GJA1 | c.553T>A (p.Tyr185Asn)
| |
6 | g.121447400T>C | CA365559269 | GJA1 | c.553T>C (p.Tyr185His)
| |
6 | g.121447400T>G | CA365559270 | GJA1 | c.553T>G (p.Tyr185Asp)
| |
6 | g.121447401A>C | CA365559271 | GJA1 | c.554A>C (p.Tyr185Ser)
| |
6 | g.121447401A>G | CA365559272 | GJA1 | c.554A>G (p.Tyr185Cys)
| |
6 | g.121447401A>T | CA365559273 | GJA1 | c.554A>T (p.Tyr185Phe)
| |
6 | g.121447402C>A | CA365559274 | GJA1 | c.555C>A (p.Tyr185Ter)
| |
6 | g.121447402C= | CA1659501639 | GJA1 | c.555C= (p.Tyr185=)
| |
6 | g.121447402C>G | CA365559275 | GJA1 | c.555C>G (p.Tyr185Ter)
| |
6 | g.121447402C>T | CA3981705 | GJA1 | c.555C>T (p.Tyr185=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447403A= | CA1659501640 | GJA1 | c.556A= (p.Thr186=)
| |
6 | g.121447403A>C | CA365559276 | GJA1 | c.556A>C (p.Thr186Pro)
| |
6 | g.121447403A>G | CA365559277 | GJA1 | c.556A>G (p.Thr186Ala)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447403A>T | CA365559278 | GJA1 | c.556A>T (p.Thr186Ser)
| |
6 | g.121447404C>A | CA365559279 | GJA1 | c.557C>A (p.Thr186Asn)
| |
6 | g.121447404C>G | CA365559281 | GJA1 | c.557C>G (p.Thr186Ser)
| |
6 | g.121447404C>T | CA365559280 | GJA1 | c.557C>T (p.Thr186Ile)
| |
6 | g.121447405T>A | CA452133907 | GJA1 | c.558T>A (p.Thr186=)
| |
6 | g.121447405T>C | CA452133908 | GJA1 | c.558T>C (p.Thr186=)
| gnomAD v4 |
6 | g.121447405T>G | CA452133911 | GJA1 | c.558T>G (p.Thr186=)
| |
6 | g.121447406T>A | CA365559282 | GJA1 | c.559T>A (p.Cys187Ser)
| |
6 | g.121447406T>C | CA365559283 | GJA1 | c.559T>C (p.Cys187Arg)
| |
6 | g.121447406T>G | CA365559284 | GJA1 | c.559T>G (p.Cys187Gly)
| |
6 | g.121447407G>A | CA365559285 | GJA1 | c.560G>A (p.Cys187Tyr)
| gnomAD v4 |
6 | g.121447407G>C | CA365559286 | GJA1 | c.560G>C (p.Cys187Ser)
| |
6 | g.121447407G>T | CA365559287 | GJA1 | c.560G>T (p.Cys187Phe)
| |
6 | g.121447408C>A | CA365559288 | GJA1 | c.561C>A (p.Cys187Ter)
| |
6 | g.121447408C= | CA1659501641 | GJA1 | c.561C= (p.Cys187=)
| |
6 | g.121447408C>G | CA365559289 | GJA1 | c.561C>G (p.Cys187Trp)
| |
6 | g.121447408C>T | CA452133914 | GJA1 | c.561C>T (p.Cys187=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447408_121447409delinsCA | CA1659501642 | GJA1 | c.561_562delinsCA (p.Cys187=)
| |
6 | g.121447409A= | CA1659501643 | GJA1 | c.562A= (p.Lys188=)
| |
6 | g.121447409A>C | CA365559290 | GJA1 | c.562A>C (p.Lys188Gln)
| |
6 | g.121447409A>G | CA365559291 | GJA1 | c.562A>G (p.Lys188Glu)
| dbSNP gnomAD v4 |
6 | g.121447409A>T | CA365559292 | GJA1 | c.562A>T (p.Lys188Ter)
| |
6 | g.121447412del | CA915942777 | GJA1 | c.565del (p.Arg189GlufsTer?)
| ClinVar dbSNP |
6 | g.121447410A= | CA1659501644 | GJA1 | c.563A= (p.Lys188=)
| |
6 | g.121447410A>C | CA365559294 | GJA1 | c.563A>C (p.Lys188Thr)
| |
6 | g.121447410A>G | CA3981706 | GJA1 | c.563A>G (p.Lys188Arg)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.121447410A>T | CA365559293 | GJA1 | c.563A>T (p.Lys188Ile)
| |
6 | g.121447411A>C | CA365559295 | GJA1 | c.564A>C (p.Lys188Asn)
| |
6 | g.121447411A>G | CA452133918 | GJA1 | c.564A>G (p.Lys188=)
| |
6 | g.121447411A>T | CA365559296 | GJA1 | c.564A>T (p.Lys188Asn)
| |
6 | g.121447412A>C | CA452133919 | GJA1 | c.565A>C (p.Arg189=)
| |
6 | g.121447412A>G | CA365559297 | GJA1 | c.565A>G (p.Arg189Gly)
| |
6 | g.121447412A>T | CA365559298 | GJA1 | c.565A>T (p.Arg189Ter)
| |
6 | g.121447413G>A | CA365559299 | GJA1 | c.566G>A (p.Arg189Lys)
| COSMIC |
6 | g.121447413G>C | CA365559300 | GJA1 | c.566G>C (p.Arg189Thr)
| |
6 | g.121447413G>T | CA365559301 | GJA1 | c.566G>T (p.Arg189Ile)
| |
6 | g.121447414A>C | CA365559302 | GJA1 | c.567A>C (p.Arg189Ser)
| |
6 | g.121447414A>G | CA452133922 | GJA1 | c.567A>G (p.Arg189=)
| |
6 | g.121447414A>T | CA365559303 | GJA1 | c.567A>T (p.Arg189Ser)
| |
6 | g.121447415G>A | CA365559304 | GJA1 | c.568G>A (p.Asp190Asn)
| |
6 | g.121447415G>C | CA3981707 | GJA1 | c.568G>C (p.Asp190His)
| dbSNP ExAC gnomAD v2 |
6 | g.121447415G= | CA1659501645 | GJA1 | c.568G= (p.Asp190=)
| |
6 | g.121447415G>T | CA365559305 | GJA1 | c.568G>T (p.Asp190Tyr)
| |
6 | g.121447416A= | CA1659501646 | GJA1 | c.569A= (p.Asp190=)
| |
6 | g.121447416A>C | CA365559306 | GJA1 | c.569A>C (p.Asp190Ala)
| |
6 | g.121447416A>G | CA365559307 | GJA1 | c.569A>G (p.Asp190Gly)
| dbSNP |
6 | g.121447416A>T | CA3981708 | GJA1 | c.569A>T (p.Asp190Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447417T>A | CA365559308 | GJA1 | c.570T>A (p.Asp190Glu)
| gnomAD v4 |
6 | g.121447417T>C | CA452133926 | GJA1 | c.570T>C (p.Asp190=)
| |
6 | g.121447417T>G | CA365559309 | GJA1 | c.570T>G (p.Asp190Glu)
| |
6 | g.121447418C>A | CA365559310 | GJA1 | c.571C>A (p.Pro191Thr)
| |
6 | g.121447418C>G | CA365559311 | GJA1 | c.571C>G (p.Pro191Ala)
| |
6 | g.121447418C>T | CA365559312 | GJA1 | c.571C>T (p.Pro191Ser)
| |
6 | g.121447419C>A | CA365559313 | GJA1 | c.572C>A (p.Pro191His)
| |
6 | g.121447419C>G | CA365559314 | GJA1 | c.572C>G (p.Pro191Arg)
| |
6 | g.121447419C>T | CA365559315 | GJA1 | c.572C>T (p.Pro191Leu)
| |
6 | g.121447420C>A | CA452133928 | GJA1 | c.573C>A (p.Pro191=)
| |
6 | g.121447420C>G | CA452133929 | GJA1 | c.573C>G (p.Pro191=)
| |
6 | g.121447420C>T | CA452133930 | GJA1 | c.573C>T (p.Pro191=)
| |
6 | g.121447421T>A | CA365559318 | GJA1 | c.574T>A (p.Cys192Ser)
| |
6 | g.121447421T>C | CA365559316 | GJA1 | c.574T>C (p.Cys192Arg)
| |
6 | g.121447421T>G | CA365559317 | GJA1 | c.574T>G (p.Cys192Gly)
| |
6 | g.121447422G>A | CA365559319 | GJA1 | c.575G>A (p.Cys192Tyr)
| |
6 | g.121447422G>C | CA365559320 | GJA1 | c.575G>C (p.Cys192Ser)
| |
6 | g.121447422G>T | CA365559321 | GJA1 | c.575G>T (p.Cys192Phe)
| |
6 | g.121447423C>A | CA365559322 | GJA1 | c.576C>A (p.Cys192Ter)
| |
6 | g.121447423C>G | CA365559323 | GJA1 | c.576C>G (p.Cys192Trp)
| |
6 | g.121447423C>T | CA452133932 | GJA1 | c.576C>T (p.Cys192=)
| |
6 | g.121447424C>A | CA365559324 | GJA1 | c.577C>A (p.Pro193Thr)
| |
6 | g.121447424C= | CA1659501647 | GJA1 | c.577C= (p.Pro193=)
| |
6 | g.121447424C>G | CA365559326 | GJA1 | c.577C>G (p.Pro193Ala)
| ClinVar dbSNP |
6 | g.121447424C>T | CA365559325 | GJA1 | c.577C>T (p.Pro193Ser)
| |
6 | g.121447425C>A | CA365559327 | GJA1 | c.578C>A (p.Pro193Gln)
| |
6 | g.121447425C>G | CA365559328 | GJA1 | c.578C>G (p.Pro193Arg)
| |
6 | g.121447425C>T | CA365559329 | GJA1 | c.578C>T (p.Pro193Leu)
| |
6 | g.121447426A>C | CA452133937 | GJA1 | c.579A>C (p.Pro193=)
| |
6 | g.121447426A>G | CA452133938 | GJA1 | c.579A>G (p.Pro193=)
| gnomAD v4 |
6 | g.121447426A>T | CA452133939 | GJA1 | c.579A>T (p.Pro193=)
| |
6 | g.121447427C>A | CA365559330 | GJA1 | c.580C>A (p.His194Asn)
| |
6 | g.121447427C>G | CA365559331 | GJA1 | c.580C>G (p.His194Asp)
| |
6 | g.121447427C>T | CA365559332 | GJA1 | c.580C>T (p.His194Tyr)
| |
6 | g.121447428A= | CA1659501648 | GJA1 | c.581A= (p.His194=)
| |
6 | g.121447428A>C | CA127015 | GJA1 | c.581A>C (p.His194Pro)
| ClinVar dbSNP |
6 | g.121447428A>G | CA365559333 | GJA1 | c.581A>G (p.His194Arg)
| |
6 | g.121447428A>T | CA365559334 | GJA1 | c.581A>T (p.His194Leu)
| COSMIC |