Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.121446906C>A | CA365557829 | GJA1 | c.59C>A (p.Ala20Asp) | |
6 | g.121446906C= | CA1659501472 | GJA1 | c.59C= (p.Ala20=) | |
6 | g.121446906C>G | CA365557830 | GJA1 | c.59C>G (p.Ala20Gly) | |
6 | g.121446906C>T | CA365557831 | GJA1 | c.59C>T (p.Ala20Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.121446907T>A | CA452133944 | GJA1 | c.60T>A (p.Ala20=) | |
6 | g.121446907T>C | CA452133946 | GJA1 | c.60T>C (p.Ala20=) | |
6 | g.121446907T>G | CA452133945 | GJA1 | c.60T>G (p.Ala20=) | |
6 | g.121446908G>A | CA127012 | GJA1 | c.61G>A (p.Gly21Arg) | ClinVar dbSNP |
6 | g.121446908G>C | CA365557833 | GJA1 | c.61G>C (p.Gly21Arg) | |
6 | g.121446908G= | CA1659501473 | GJA1 | c.61G= (p.Gly21=) | |
6 | g.121446908G>T | CA365557832 | GJA1 | c.61G>T (p.Gly21Ter) | |
6 | g.121446909G>A | CA365557834 | GJA1 | c.62G>A (p.Gly21Glu) | |
6 | g.121446909G>C | CA365557835 | GJA1 | c.62G>C (p.Gly21Ala) | |
6 | g.121446909G>T | CA365557836 | GJA1 | c.62G>T (p.Gly21Val) | |
6 | g.121446910A>C | CA452133951 | GJA1 | c.63A>C (p.Gly21=) | |
6 | g.121446910A>G | CA452133952 | GJA1 | c.63A>G (p.Gly21=) | |
6 | g.121446910A>T | CA452133953 | GJA1 | c.63A>T (p.Gly21=) | |
6 | g.121446911G>A | CA365557837 | GJA1 | c.64G>A (p.Gly22Arg) | ClinVar dbSNP |
6 | g.121446911G>C | CA365557838 | GJA1 | c.64G>C (p.Gly22Arg) | |
6 | g.121446911G= | CA1659501474 | GJA1 | c.64G= (p.Gly22=) | |
6 | g.121446911G>T | CA365557839 | GJA1 | c.64G>T (p.Gly22Trp) | |
6 | g.121446912G>A | CA127013 | GJA1 | c.65G>A (p.Gly22Glu) | ClinVar dbSNP |
6 | g.121446912G>C | CA365557840 | GJA1 | c.65G>C (p.Gly22Ala) | |
6 | g.121446912G= | CA1659501475 | GJA1 | c.65G= (p.Gly22=) | |
6 | g.121446912G>T | CA365557841 | GJA1 | c.65G>T (p.Gly22Val) | |
6 | g.121446913G>A | CA3981654 | GJA1 | c.66G>A (p.Gly22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121446913G>C | CA452133956 | GJA1 | c.66G>C (p.Gly22=) | |
6 | g.121446913G= | CA1659501476 | GJA1 | c.66G= (p.Gly22=) | |
6 | g.121446913G>T | CA452133957 | GJA1 | c.66G>T (p.Gly22=) | |
6 | g.121446914A>C | CA365557842 | GJA1 | c.67A>C (p.Lys23Gln) | |
6 | g.121446914A>G | CA365557843 | GJA1 | c.67A>G (p.Lys23Glu) | |
6 | g.121446914A>T | CA365557844 | GJA1 | c.67A>T (p.Lys23Ter) | |
6 | g.121446915A>C | CA365557847 | GJA1 | c.68A>C (p.Lys23Thr) | |
6 | g.121446915A>G | CA365557846 | GJA1 | c.68A>G (p.Lys23Arg) | |
6 | g.121446915A>T | CA365557845 | GJA1 | c.68A>T (p.Lys23Met) | |
6 | g.121446916G>A | CA452133961 | GJA1 | c.69G>A (p.Lys23=) | |
6 | g.121446916G>C | CA365557848 | GJA1 | c.69G>C (p.Lys23Asn) | |
6 | g.121446916G>T | CA365557849 | GJA1 | c.69G>T (p.Lys23Asn) | |
6 | g.121446917G>A | CA365557850 | GJA1 | c.70G>A (p.Val24Met) | gnomAD v4 |
6 | g.121446917G>C | CA365557851 | GJA1 | c.70G>C (p.Val24Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.121446917G= | CA1659501477 | GJA1 | c.70G= (p.Val24=) | |
6 | g.121446917G>T | CA365557852 | GJA1 | c.70G>T (p.Val24Leu) | |
6 | g.121446918T>A | CA365557853 | GJA1 | c.71T>A (p.Val24Glu) | |
6 | g.121446918T>C | CA365557854 | GJA1 | c.71T>C (p.Val24Ala) | |
6 | g.121446918T>G | CA365557855 | GJA1 | c.71T>G (p.Val24Gly) | |
6 | g.121446919G>A | CA452133965 | GJA1 | c.72G>A (p.Val24=) | |
6 | g.121446919G>C | CA452133968 | GJA1 | c.72G>C (p.Val24=) | |
6 | g.121446919G>T | CA452133966 | GJA1 | c.72G>T (p.Val24=) | |
6 | g.121446920T>A | CA365557856 | GJA1 | c.73T>A (p.Trp25Arg) | |
6 | g.121446920T>C | CA365557857 | GJA1 | c.73T>C (p.Trp25Arg) |