| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.121446897A= | CA1659501467 | GJA1 | c.50A= (p.Tyr17=) | |
| 6 | g.121446897A>C | CA127011 | GJA1 | c.50A>C (p.Tyr17Ser) | ClinVar dbSNP |
| 6 | g.121446897A>G | CA365557812 | GJA1 | c.50A>G (p.Tyr17Cys) | COSMIC |
| 6 | g.121446897A>T | CA365557813 | GJA1 | c.50A>T (p.Tyr17Phe) | |
| 6 | g.121446898C>A | CA365557814 | GJA1 | c.51C>A (p.Tyr17Ter) | |
| 6 | g.121446898C= | CA1659501468 | GJA1 | c.51C= (p.Tyr17=) | |
| 6 | g.121446898C>G | CA3981652 | GJA1 | c.51C>G (p.Tyr17Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.121446898C>T | CA452133927 | GJA1 | c.51C>T (p.Tyr17=) | gnomAD v4 COSMIC |
| 6 | g.121446899T>A | CA365557815 | GJA1 | c.52T>A (p.Ser18Thr) | |
| 6 | g.121446899T>C | CA215133 | GJA1 | c.52T>C (p.Ser18Pro) | ClinVar dbSNP |
| 6 | g.121446899T>G | CA365557816 | GJA1 | c.52T>G (p.Ser18Ala) | |
| 6 | g.121446899T= | CA1659501469 | GJA1 | c.52T= (p.Ser18=) | |
| 6 | g.121446900C>A | CA365557819 | GJA1 | c.53C>A (p.Ser18Ter) | ClinVar dbSNP |
| 6 | g.121446900C= | CA1659501470 | GJA1 | c.53C= (p.Ser18=) | |
| 6 | g.121446900C>G | CA365557817 | GJA1 | c.53C>G (p.Ser18Ter) | |
| 6 | g.121446900C>T | CA365557818 | GJA1 | c.53C>T (p.Ser18Leu) | |
| 6 | g.121446901A>C | CA452133933 | GJA1 | c.54A>C (p.Ser18=) | |
| 6 | g.121446901A>G | CA452133935 | GJA1 | c.54A>G (p.Ser18=) | |
| 6 | g.121446901A>T | CA452133936 | GJA1 | c.54A>T (p.Ser18=) | gnomAD v4 COSMIC |
| 6 | g.121446902A>C | CA365557820 | GJA1 | c.55A>C (p.Thr19Pro) | |
| 6 | g.121446902A>G | CA365557821 | GJA1 | c.55A>G (p.Thr19Ala) | gnomAD v4 |
| 6 | g.121446902A>T | CA365557822 | GJA1 | c.55A>T (p.Thr19Ser) | |
| 6 | g.121446903del | CA2680195050 | GJA1 | c.56del (p.Thr19MetfsTer?) | gnomAD v4 |
| 6 | g.121446903C>A | CA365557823 | GJA1 | c.56C>A (p.Thr19Asn) | |
| 6 | g.121446903C>G | CA365557824 | GJA1 | c.56C>G (p.Thr19Ser) | gnomAD v4 |
| 6 | g.121446903C>T | CA365557825 | GJA1 | c.56C>T (p.Thr19Ile) | |
| 6 | g.121446904T>A | CA3981653 | GJA1 | c.57T>A (p.Thr19=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.121446904T>C | CA452133940 | GJA1 | c.57T>C (p.Thr19=) | |
| 6 | g.121446904T>G | CA452133941 | GJA1 | c.57T>G (p.Thr19=) | |
| 6 | g.121446904T= | CA1659501471 | GJA1 | c.57T= (p.Thr19=) | |
| 6 | g.121446905G>A | CA365557826 | GJA1 | c.58G>A (p.Ala20Thr) | |
| 6 | g.121446905G>C | CA365557827 | GJA1 | c.58G>C (p.Ala20Pro) | |
| 6 | g.121446905G>T | CA365557828 | GJA1 | c.58G>T (p.Ala20Ser) | |
| 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=) |