Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20188934_20188937del | CA172239 | GJB2 | c.647_650del (p.Arg216IlefsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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) | |
13 | g.20188943C>G | CA387460741 | GJB2 | c.639G>C (p.Leu213Phe) | |
13 | g.20188943C>T | CA483154247 | GJB2 | c.639G>A (p.Leu213=) | |
13 | g.20188944A>C | CA387460742 | GJB2 | c.638T>G (p.Leu213Trp) | |
13 | g.20188944A>G | CA387460743 | GJB2 | c.638T>C (p.Leu213Ser) | |
13 | g.20188944A>T | CA387460744 | GJB2 | c.638T>A (p.Leu213Ter) | |
13 | g.20188945A= | CA2077138675 | GJB2 | c.637T= (p.Leu213=) | |
13 | g.20188945A>C | CA387460745 | GJB2 | c.637T>G (p.Leu213Val) | |
13 | g.20188945A>G | CA483154249 | GJB2 | c.637T>C (p.Leu213=) | |
13 | g.20188945A>T | CA387460746 | GJB2 | c.637T>A (p.Leu213Met) | dbSNP gnomAD v4 |
13 | g.20188946A>C | CA387460747 | GJB2 | c.636T>G (p.Tyr212Ter) | |
13 | g.20188946A>G | CA483154250 | GJB2 | c.636T>C (p.Tyr212=) | |
13 | g.20188946A>T | CA387460748 | GJB2 | c.636T>A (p.Tyr212Ter) | |
13 | g.20188947T>A | CA387460749 | GJB2 | c.635A>T (p.Tyr212Phe) | |
13 | g.20188947T>C | CA387460750 | GJB2 | c.635A>G (p.Tyr212Cys) | COSMIC |
13 | g.20188947T>G | CA387460751 | GJB2 | c.635A>C (p.Tyr212Ser) | |
13 | g.20188947_20188952delinsTAACAC | CA2077138679 | GJB2 | c.630_635delinsGTGTTA (p.Leu210=) | |
13 | g.20188948A>C | CA387460752 | GJB2 | c.634T>G (p.Tyr212Asp) | |
13 | g.20188948A>G | CA387460754 | GJB2 | c.634T>C (p.Tyr212His) | |
13 | g.20188948A>T | CA387460753 | GJB2 | c.634T>A (p.Tyr212Asn) | |
13 | g.20188948_20188950delinsAAC | CA2077138684 | GJB2 | c.632_634delinsGTT (p.Cys211=) | |
13 | g.20188950_20188954del | CA608984139 | GJB2 | c.630_634del (p.Cys211PhefsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 |