Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.121446844C>ACA2578728862GJA1c.-4C>A (n.-4C>A)
gnomAD v4
6g.121446844C=CA1659501455GJA1c.-4C= (n.-4C=)
6g.121446844C>TCA570268895GJA1c.-4C>T (n.-4C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.121446848A=CA1659501456GJA1c.1A= (p.Met1=)
6g.121446848A>CCA365557697GJA1c.1A>C (p.Met1Leu)
6g.121446848A>GCA365557698GJA1c.1A>G (p.Met1Val)
dbSNP gnomAD v4
6g.121446848A>TCA365557699GJA1c.1A>T (p.Met1Leu)
6g.121446849T>ACA365557700GJA1c.2T>A (p.Met1Lys)
gnomAD v4 COSMIC
6g.121446849T>CCA365557701GJA1c.2T>C (p.Met1Thr)
6g.121446849T>GCA365557702GJA1c.2T>G (p.Met1Arg)
gnomAD v4
6g.121446850G>ACA365557703GJA1c.3G>A (p.Met1Ile)
dbSNP
6g.121446850G>CCA365557704GJA1c.3G>C (p.Met1Ile)
6g.121446850G=CA1659501457GJA1c.3G= (p.Met1=)
6g.121446850G>TCA365557705GJA1c.3G>T (p.Met1Ile)
6g.121446852dupCA658820847GJA1c.5dup (p.Asp3Ter)
6g.121446852delCA2578728863GJA1c.5del (p.Gly2ValfsTer6)
6g.121446851G>ACA365557706GJA1c.4G>A (p.Gly2Ser)
6g.121446851G>CCA365557707GJA1c.4G>C (p.Gly2Arg)
6g.121446851G>TCA365557708GJA1c.4G>T (p.Gly2Cys)
6g.121446852G>ACA365557710GJA1c.5G>A (p.Gly2Asp)
6g.121446852G>CCA365557711GJA1c.5G>C (p.Gly2Ala)
6g.121446852G>TCA365557709GJA1c.5G>T (p.Gly2Val)
6g.121446853delCA2695206907GJA1c.6del (p.Asp3ThrfsTer5)
6g.121446853T>ACA452033585GJA1c.6T>A (p.Gly2=)
6g.121446853T>CCA3981650GJA1c.6T>C (p.Gly2=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.121446853T>GCA452033584GJA1c.6T>G (p.Gly2=)
6g.121446853T=CA1659501458GJA1c.6T= (p.Gly2=)
6g.121446854G>ACA365557712GJA1c.7G>A (p.Asp3Asn)
6g.121446854G>CCA365557713GJA1c.7G>C (p.Asp3His)
6g.121446854G>TCA365557714GJA1c.7G>T (p.Asp3Tyr)
gnomAD v4
6g.121446855A>CCA365557715GJA1c.8A>C (p.Asp3Ala)
6g.121446855A>GCA365557716GJA1c.8A>G (p.Asp3Gly)
6g.121446855A>TCA365557717GJA1c.8A>T (p.Asp3Val)
6g.121446856C>ACA365557718GJA1c.9C>A (p.Asp3Glu)
6g.121446856C>GCA365557719GJA1c.9C>G (p.Asp3Glu)
6g.121446856C>TCA452033586GJA1c.9C>T (p.Asp3=)
6g.121446857T>ACA365557720GJA1c.10T>A (p.Trp4Arg)
6g.121446857T>CCA365557721GJA1c.10T>C (p.Trp4Arg)
6g.121446857T>GCA365557722GJA1c.10T>G (p.Trp4Gly)
6g.121446858G>ACA365557723GJA1c.11G>A (p.Trp4Ter)
gnomAD v4
6g.121446858G>CCA365557724GJA1c.11G>C (p.Trp4Ser)
6g.121446858G>TCA365557725GJA1c.11G>T (p.Trp4Leu)
6g.121446859G>ACA365557726GJA1c.12G>A (p.Trp4Ter)
6g.121446859G>CCA365557728GJA1c.12G>C (p.Trp4Cys)
6g.121446859G>TCA365557727GJA1c.12G>T (p.Trp4Cys)
6g.121446860A>CCA365557729GJA1c.13A>C (p.Ser5Arg)
6g.121446860A>GCA365557730GJA1c.13A>G (p.Ser5Gly)
6g.121446860A>TCA365557731GJA1c.13A>T (p.Ser5Cys)
6g.121446861G>ACA365557732GJA1c.14G>A (p.Ser5Asn)
6g.121446861G>CCA365557733GJA1c.14G>C (p.Ser5Thr)

Number of alleles fetched