Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223939T>A | CA413501599 | GJB1 | c.232T>A (p.Ser78Thr) | |
X | g.71223939T>C | CA413501600 | GJB1 | c.232T>C (p.Ser78Pro) | |
X | g.71223939T>G | CA413501602 | GJB1 | c.232T>G (p.Ser78Ala) | ClinVar dbSNP |
X | g.71223939T= | CA2436388239 | GJB1 | c.232T= (p.Ser78=) | |
X | g.71223940C>A | CA413501604 | GJB1 | c.233C>A (p.Ser78Tyr) | |
X | g.71223940C= | CA2436388240 | GJB1 | c.233C= (p.Ser78=) | |
X | g.71223940C>G | CA413501605 | GJB1 | c.233C>G (p.Ser78Cys) | |
X | g.71223940C>T | CA413501606 | GJB1 | c.233C>T (p.Ser78Phe) | ClinVar dbSNP |
X | g.71223942del | CA2499226843 | GJB1 | c.235del (p.Leu79CysfsTer5) | ClinVar dbSNP |
X | g.71223941C>A | CA516821327 | GJB1 | c.234C>A (p.Ser78=) | |
X | g.71223941C= | CA2436388241 | GJB1 | c.234C= (p.Ser78=) | |
X | g.71223941C>G | CA516821329 | GJB1 | c.234C>G (p.Ser78=) | |
X | g.71223941C>T | CA516821328 | GJB1 | c.234C>T (p.Ser78=) | ClinVar dbSNP |
X | g.71223942C>A | CA413501607 | GJB1 | c.235C>A (p.Leu79Met) | |
X | g.71223942C= | CA2436388242 | GJB1 | c.235C= (p.Leu79=) | |
X | g.71223942C>G | CA413501609 | GJB1 | c.235C>G (p.Leu79Val) | |
X | g.71223942C>T | CA350694 | GJB1 | c.235C>T (p.Leu79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71223943T>A | CA413501611 | GJB1 | c.236T>A (p.Leu79Gln) | |
X | g.71223943T>C | CA413501613 | GJB1 | c.236T>C (p.Leu79Pro) | gnomAD v4 |
X | g.71223943T>G | CA413501614 | GJB1 | c.236T>G (p.Leu79Arg) | |
X | g.71223944G>A | CA516821330 | GJB1 | c.237G>A (p.Leu79=) | gnomAD v4 |
X | g.71223944G>C | CA516821331 | GJB1 | c.237G>C (p.Leu79=) | |
X | g.71223944G>T | CA516821332 | GJB1 | c.237G>T (p.Leu79=) | |
X | g.71223945C>A | CA413501616 | GJB1 | c.238C>A (p.Gln80Lys) | ClinVar dbSNP |
X | g.71223945C= | CA2436388243 | GJB1 | c.238C= (p.Gln80=) | |
X | g.71223945C>G | CA413501618 | GJB1 | c.238C>G (p.Gln80Glu) | |
X | g.71223945C>T | CA413501620 | GJB1 | c.238C>T (p.Gln80Ter) | ClinVar dbSNP |
X | g.71223946A= | CA2436388244 | GJB1 | c.239A= (p.Gln80=) | |
X | g.71223946A>C | CA413501623 | GJB1 | c.239A>C (p.Gln80Pro) | |
X | g.71223946A>G | CA10584637 | GJB1 | c.239A>G (p.Gln80Arg) | ClinVar dbSNP |
X | g.71223946A>T | CA413501621 | GJB1 | c.239A>T (p.Gln80Leu) | |
X | g.71223947G>A | CA516821333 | GJB1 | c.240G>A (p.Gln80=) | |
X | g.71223947G>C | CA413501625 | GJB1 | c.240G>C (p.Gln80His) | |
X | g.71223947G>T | CA413501626 | GJB1 | c.240G>T (p.Gln80His) | ClinVar |
X | g.71223948C>A | CA413501628 | GJB1 | c.241C>A (p.Leu81Ile) | |
X | g.71223948C= | CA2436388245 | GJB1 | c.241C= (p.Leu81=) | |
X | g.71223948C>G | CA10577655 | GJB1 | c.241C>G (p.Leu81Val) | ClinVar dbSNP |
X | g.71223948C>T | CA413501630 | GJB1 | c.241C>T (p.Leu81Phe) | ClinVar dbSNP |
X | g.71223949T>A | CA413501632 | GJB1 | c.242T>A (p.Leu81His) | ClinVar dbSNP |
X | g.71223949T>C | CA413501635 | GJB1 | c.242T>C (p.Leu81Pro) | |
X | g.71223949T>G | CA413501633 | GJB1 | c.242T>G (p.Leu81Arg) | |
X | g.71223949T= | CA2436388246 | GJB1 | c.242T= (p.Leu81=) | |
X | g.71223950C>A | CA516821334 | GJB1 | c.243C>A (p.Leu81=) | |
X | g.71223950C= | CA2436388247 | GJB1 | c.243C= (p.Leu81=) | |
X | g.71223950C>G | CA516821335 | GJB1 | c.243C>G (p.Leu81=) | |
X | g.71223950C>T | CA10445285 | GJB1 | c.243C>T (p.Leu81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71223951A= | CA2436388248 | GJB1 | c.244A= (p.Ile82=) | |
X | g.71223951A>C | CA413501638 | GJB1 | c.244A>C (p.Ile82Leu) | ClinVar |
X | g.71223951A>G | CA413501639 | GJB1 | c.244A>G (p.Ile82Val) | ClinVar dbSNP |