Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.228157801_228157803del | CA2650853529 | GJC2 | c.43_45del (p.Glu15del) | gnomAD v4 |
1 | g.228157801G>A | CA345096775 | GJC2 | c.43G>A (p.Glu15Lys) | dbSNP |
1 | g.228157801G>C | CA345096774 | GJC2 | c.43G>C (p.Glu15Gln) | |
1 | g.228157801G= | CA1225628040 | GJC2 | c.43G= (p.Glu15=) | |
1 | g.228157801G>T | CA345096776 | GJC2 | c.43G>T (p.Glu15Ter) | |
1 | g.228157802A>C | CA345096777 | GJC2 | c.44A>C (p.Glu15Ala) | |
1 | g.228157802A>G | CA345096779 | GJC2 | c.44A>G (p.Glu15Gly) | |
1 | g.228157802A>T | CA345096778 | GJC2 | c.44A>T (p.Glu15Val) | |
1 | g.228157803G>A | CA423546315 | GJC2 | c.45G>A (p.Glu15=) | gnomAD v4 |
1 | g.228157803G>C | CA345096780 | GJC2 | c.45G>C (p.Glu15Asp) | dbSNP gnomAD v2 COSMIC |
1 | g.228157803G= | CA1225628042 | GJC2 | c.45G= (p.Glu15=) | |
1 | g.228157803G>T | CA345096781 | GJC2 | c.45G>T (p.Glu15Asp) | |
1 | g.228157804A>C | CA345096782 | GJC2 | c.46A>C (p.Ile16Leu) | |
1 | g.228157804A>G | CA345096783 | GJC2 | c.46A>G (p.Ile16Val) | |
1 | g.228157804A>T | CA345096784 | GJC2 | c.46A>T (p.Ile16Phe) | |
1 | g.228157805T>A | CA345096785 | GJC2 | c.47T>A (p.Ile16Asn) | |
1 | g.228157805T>C | CA345096786 | GJC2 | c.47T>C (p.Ile16Thr) | |
1 | g.228157805T>G | CA345096787 | GJC2 | c.47T>G (p.Ile16Ser) | |
1 | g.228157805T= | CA1225628045 | GJC2 | c.47T= (p.Ile16=) | |
1 | g.228157806C>A | CA423546316 | GJC2 | c.48C>A (p.Ile16=) | gnomAD v4 |
1 | g.228157806C>G | CA345096788 | GJC2 | c.48C>G (p.Ile16Met) | |
1 | g.228157806C>T | CA423546317 | GJC2 | c.48C>T (p.Ile16=) | |
1 | g.228157807dup | CA1139656616 | GJC2 | c.49dup (p.His17ProfsTer?) | ClinVar dbSNP |
1 | g.228157807C>A | CA345096789 | GJC2 | c.49C>A (p.His17Asn) | gnomAD v4 |
1 | g.228157807C>G | CA345096790 | GJC2 | c.49C>G (p.His17Asp) | |
1 | g.228157807C>T | CA345096791 | GJC2 | c.49C>T (p.His17Tyr) | |
1 | g.228157808A= | CA1225628048 | GJC2 | c.50A= (p.His17=) | |
1 | g.228157808A>C | CA345096792 | GJC2 | c.50A>C (p.His17Pro) | dbSNP |
1 | g.228157808A>G | CA345096794 | GJC2 | c.50A>G (p.His17Arg) | |
1 | g.228157808A>T | CA345096793 | GJC2 | c.50A>T (p.His17Leu) | |
1 | g.228157809C>A | CA345096795 | GJC2 | c.51C>A (p.His17Gln) | |
1 | g.228157809C= | CA1141613138 | GJC2 | c.51C= (p.His17=) | |
1 | g.228157809C>G | CA345096796 | GJC2 | c.51C>G (p.His17Gln) | |
1 | g.228157809C>T | CA1430791 | GJC2 | c.51C>T (p.His17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157810A= | CA1225628053 | GJC2 | c.52A= (p.Asn18=) | |
1 | g.228157810A>C | CA345096797 | GJC2 | c.52A>C (p.Asn18His) | dbSNP gnomAD v2 |
1 | g.228157810A>G | CA345096798 | GJC2 | c.52A>G (p.Asn18Asp) | |
1 | g.228157810A>T | CA345096799 | GJC2 | c.52A>T (p.Asn18Tyr) | |
1 | g.228157811A>C | CA345096800 | GJC2 | c.53A>C (p.Asn18Thr) | |
1 | g.228157811A>G | CA345096801 | GJC2 | c.53A>G (p.Asn18Ser) | |
1 | g.228157811A>T | CA345096802 | GJC2 | c.53A>T (p.Asn18Ile) | |
1 | g.228157812C>A | CA345096804 | GJC2 | c.54C>A (p.Asn18Lys) | |
1 | g.228157812C>G | CA345096803 | GJC2 | c.54C>G (p.Asn18Lys) | |
1 | g.228157812C>T | CA423546318 | GJC2 | c.54C>T (p.Asn18=) | gnomAD v4 |
1 | g.228157813C>A | CA345096805 | GJC2 | c.55C>A (p.His19Asn) | gnomAD v4 |
1 | g.228157813C= | CA1225628057 | GJC2 | c.55C= (p.His19=) | |
1 | g.228157813C>G | CA345096806 | GJC2 | c.55C>G (p.His19Asp) | |
1 | g.228157813C>T | CA345096807 | GJC2 | c.55C>T (p.His19Tyr) | dbSNP gnomAD v2 |
1 | g.228157814A= | CA1142311773 | GJC2 | c.56A= (p.His19=) | |
1 | g.228157814A>C | CA345096808 | GJC2 | c.56A>C (p.His19Pro) | dbSNP |