Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20188931A= | CA2077138634 | GJB2 | c.651T= (p.Tyr217=) | |
13 | g.20188931A>C | CA387460716 | GJB2 | c.651T>G (p.Tyr217Ter) | |
13 | g.20188931A>G | CA6904217 | GJB2 | c.651T>C (p.Tyr217=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188931A>T | CA387460717 | GJB2 | c.651T>A (p.Tyr217Ter) | |
13 | g.20188931_20188935delinsATATC | CA2077138633 | GJB2 | c.647_651delinsGATAT (p.Arg216=) | |
13 | g.20188932T>A | CA387460718 | GJB2 | c.650A>T (p.Tyr217Phe) | |
13 | g.20188932T>C | CA246459675 | GJB2 | c.650A>G (p.Tyr217Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188932T>G | CA387460719 | GJB2 | c.650A>C (p.Tyr217Ser) | |
13 | g.20188932T= | CA2077138640 | GJB2 | c.650A= (p.Tyr217=) | |
13 | g.20188934_20188937del | CA172239 | GJB2 | c.647_650del (p.Arg216IlefsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188933A= | CA2077138647 | GJB2 | c.649T= (p.Tyr217=) | |
13 | g.20188933A>C | CA6904218 | GJB2 | c.649T>G (p.Tyr217Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188933A>G | CA387460721 | GJB2 | c.649T>C (p.Tyr217His) | |
13 | g.20188933A>T | CA387460720 | GJB2 | c.649T>A (p.Tyr217Asn) | |
13 | g.20188934T>A | CA387460722 | GJB2 | c.648A>T (p.Arg216Ser) | |
13 | g.20188934T>C | CA483154235 | GJB2 | c.648A>G (p.Arg216=) | dbSNP gnomAD v2 |
13 | g.20188934T>G | CA387460723 | GJB2 | c.648A>C (p.Arg216Ser) | dbSNP |
13 | g.20188934T= | CA2077138651 | GJB2 | c.648A= (p.Arg216=) | |
13 | g.20188935C>A | CA6904219 | GJB2 | c.647G>T (p.Arg216Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188935C= | CA2077138654 | GJB2 | c.647G= (p.Arg216=) | |
13 | g.20188935C>G | CA387460725 | GJB2 | c.647G>C (p.Arg216Thr) | |
13 | g.20188935C>T | CA387460724 | GJB2 | c.647G>A (p.Arg216Lys) | gnomAD v4 |
13 | g.20188936T>A | CA387460726 | GJB2 | c.646A>T (p.Arg216Ter) | gnomAD v4 |
13 | g.20188936T>C | CA387460727 | GJB2 | c.646A>G (p.Arg216Gly) | dbSNP gnomAD v4 |
13 | g.20188936T>G | CA483154236 | GJB2 | c.646A>C (p.Arg216=) | ClinVar dbSNP |
13 | g.20188936T= | CA2077138658 | GJB2 | c.646A= (p.Arg216=) | |
13 | g.20188936_20188937delinsTA | CA2077138661 | GJB2 | c.645_646delinsTA (p.Ile215=) | |
13 | g.20188937A= | CA2077138666 | GJB2 | c.645T= (p.Ile215=) | |
13 | g.20188937A>C | CA387460728 | GJB2 | c.645T>G (p.Ile215Met) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188937A>G | CA6904220 | GJB2 | c.645T>C (p.Ile215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188937A>T | CA483154237 | GJB2 | c.645T>A (p.Ile215=) | |
13 | g.20188938del | CA658656317 | GJB2 | c.645del (p.Arg216AspfsTer18) | ClinVar dbSNP |
13 | g.20188938A>C | CA387460729 | GJB2 | c.644T>G (p.Ile215Ser) | |
13 | g.20188938A>G | CA387460730 | GJB2 | c.644T>C (p.Ile215Thr) | |
13 | g.20188938A>T | CA387460731 | GJB2 | c.644T>A (p.Ile215Asn) | |
13 | g.20188939T>A | CA387460732 | GJB2 | c.643A>T (p.Ile215Phe) | |
13 | g.20188939T>C | CA387460733 | GJB2 | c.643A>G (p.Ile215Val) | |
13 | g.20188939T>G | CA387460734 | GJB2 | c.643A>C (p.Ile215Leu) | |
13 | g.20188940T>A | CA483154241 | GJB2 | c.642A>T (p.Leu214=) | |
13 | g.20188940T>C | CA6904221 | GJB2 | c.642A>G (p.Leu214=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188940T>G | CA483154244 | GJB2 | c.642A>C (p.Leu214=) | |
13 | g.20188940T= | CA2077138668 | GJB2 | c.642A= (p.Leu214=) | |
13 | g.20188941A>C | CA387460735 | GJB2 | c.641T>G (p.Leu214Arg) | ClinVar |
13 | g.20188941A>G | CA387460736 | GJB2 | c.641T>C (p.Leu214Pro) | |
13 | g.20188941A>T | CA387460737 | GJB2 | c.641T>A (p.Leu214Gln) | |
13 | g.20188942G>A | CA483154245 | GJB2 | c.640C>T (p.Leu214=) | gnomAD v4 |
13 | g.20188942G>C | CA387460738 | GJB2 | c.640C>G (p.Leu214Val) | dbSNP gnomAD v2 |
13 | g.20188942G= | CA2077138672 | GJB2 | c.640C= (p.Leu214=) | |
13 | g.20188942G>T | CA387460739 | GJB2 | c.640C>A (p.Leu214Ile) | |
13 | g.20188943C>A | CA387460740 | GJB2 | c.639G>T (p.Leu213Phe) |