Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224215_71224258dup | CA1139667646 | GJB1 | c.508_551dup (p.Thr185SerfsTer26) | ClinVar dbSNP |
X | g.71224217C>A | CA516821070 | GJB1 | c.510C>A (p.Val170=) | |
X | g.71224217C= | CA2436388420 | GJB1 | c.510C= (p.Val170=) | |
X | g.71224217C>G | CA10445311 | GJB1 | c.510C>G (p.Val170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224217C>T | CA516821072 | GJB1 | c.510C>T (p.Val170=) | |
X | g.71224218T>A | CA413502881 | GJB1 | c.511T>A (p.Tyr171Asn) | |
X | g.71224218T>C | CA413502884 | GJB1 | c.511T>C (p.Tyr171His) | |
X | g.71224218T>G | CA413502887 | GJB1 | c.511T>G (p.Tyr171Asp) | |
X | g.71224219A= | CA2436388421 | GJB1 | c.512A= (p.Tyr171=) | |
X | g.71224219A>C | CA413502891 | GJB1 | c.512A>C (p.Tyr171Ser) | |
X | g.71224219A>G | CA10445312 | GJB1 | c.512A>G (p.Tyr171Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224219A>T | CA413502894 | GJB1 | c.512A>T (p.Tyr171Phe) | dbSNP |
X | g.71224220C>A | CA413502896 | GJB1 | c.513C>A (p.Tyr171Ter) | gnomAD v4 |
X | g.71224220C= | CA2436388422 | GJB1 | c.513C= (p.Tyr171=) | |
X | g.71224220C>G | CA413502899 | GJB1 | c.513C>G (p.Tyr171Ter) | ClinVar dbSNP |
X | g.71224220C>T | CA516821077 | GJB1 | c.513C>T (p.Tyr171=) | |
X | g.71224221C>A | CA413502902 | GJB1 | c.514C>A (p.Pro172Thr) | |
X | g.71224221C= | CA2436388423 | GJB1 | c.514C= (p.Pro172=) | |
X | g.71224221C>G | CA413502905 | GJB1 | c.514C>G (p.Pro172Ala) | ClinVar dbSNP |
X | g.71224221C>T | CA255232 | GJB1 | c.514C>T (p.Pro172Ser) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.71224222C>A | CA413502909 | GJB1 | c.515C>A (p.Pro172His) | |
X | g.71224222C= | CA2436388424 | GJB1 | c.515C= (p.Pro172=) | |
X | g.71224222C>G | CA413502912 | GJB1 | c.515C>G (p.Pro172Arg) | ClinVar dbSNP |
X | g.71224222C>T | CA413502914 | GJB1 | c.515C>T (p.Pro172Leu) | ClinVar dbSNP |
X | g.71224223C>A | CA516821081 | GJB1 | c.516C>A (p.Pro172=) | |
X | g.71224223C>G | CA516821083 | GJB1 | c.516C>G (p.Pro172=) | |
X | g.71224223C>T | CA516821085 | GJB1 | c.516C>T (p.Pro172=) | |
X | g.71224224T>A | CA413502918 | GJB1 | c.517T>A (p.Cys173Ser) | |
X | g.71224224T>C | CA413502920 | GJB1 | c.517T>C (p.Cys173Arg) | ClinVar dbSNP gnomAD v4 |
X | g.71224224T>G | CA413502922 | GJB1 | c.517T>G (p.Cys173Gly) | |
X | g.71224224T= | CA2436388425 | GJB1 | c.517T= (p.Cys173=) | |
X | g.71224225G>A | CA413502925 | GJB1 | c.518G>A (p.Cys173Tyr) | |
X | g.71224225G>C | CA413502926 | GJB1 | c.518G>C (p.Cys173Ser) | |
X | g.71224225G= | CA2436388426 | GJB1 | c.518G= (p.Cys173=) | |
X | g.71224225G>T | CA413502928 | GJB1 | c.518G>T (p.Cys173Phe) | ClinVar dbSNP |
X | g.71224226C>A | CA413502931 | GJB1 | c.519C>A (p.Cys173Ter) | ClinVar dbSNP |
X | g.71224226C= | CA2436388427 | GJB1 | c.519C= (p.Cys173=) | |
X | g.71224226C>G | CA413502934 | GJB1 | c.519C>G (p.Cys173Trp) | |
X | g.71224226C>T | CA516821091 | GJB1 | c.519C>T (p.Cys173=) | ClinVar dbSNP |
X | g.71224227C>A | CA413502938 | GJB1 | c.520C>A (p.Pro174Thr) | |
X | g.71224227C>G | CA413502943 | GJB1 | c.520C>G (p.Pro174Ala) | ClinVar dbSNP |
X | g.71224227C>T | CA413502940 | GJB1 | c.520C>T (p.Pro174Ser) | |
X | g.71224228C>A | CA413502947 | GJB1 | c.521C>A (p.Pro174His) | |
X | g.71224228C= | CA2436388428 | GJB1 | c.521C= (p.Pro174=) | |
X | g.71224228C>G | CA413502950 | GJB1 | c.521C>G (p.Pro174Arg) | ClinVar dbSNP |
X | g.71224228C>T | CA413502952 | GJB1 | c.521C>T (p.Pro174Leu) | ClinVar dbSNP |
X | g.71224229C>A | CA516821095 | GJB1 | c.522C>A (p.Pro174=) | |
X | g.71224229C= | CA2436388429 | GJB1 | c.522C= (p.Pro174=) | |
X | g.71224229C>G | CA516821099 | GJB1 | c.522C>G (p.Pro174=) | |
X | g.71224229C>T | CA516821096 | GJB1 | c.522C>T (p.Pro174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |