Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223909T>A | CA413501428 | GJB1 | c.202T>A (p.Phe68Ile) | |
X | g.71223909T>C | CA413501433 | GJB1 | c.202T>C (p.Phe68Leu) | |
X | g.71223909T>G | CA413501430 | GJB1 | c.202T>G (p.Phe68Val) | |
X | g.71223910T>A | CA413501437 | GJB1 | c.203T>A (p.Phe68Tyr) | |
X | g.71223910T>C | CA413501440 | GJB1 | c.203T>C (p.Phe68Ser) | |
X | g.71223910T>G | CA413501441 | GJB1 | c.203T>G (p.Phe68Cys) | |
X | g.71223911C>A | CA413501450 | GJB1 | c.204C>A (p.Phe68Leu) | gnomAD v4 |
X | g.71223911C= | CA2436388216 | GJB1 | c.204C= (p.Phe68=) | |
X | g.71223911C>G | CA413501452 | GJB1 | c.204C>G (p.Phe68Leu) | |
X | g.71223911C>T | CA516821283 | GJB1 | c.204C>T (p.Phe68=) | dbSNP gnomAD v4 |
X | g.71223912T>A | CA413501454 | GJB1 | c.205T>A (p.Phe69Ile) | |
X | g.71223912T>C | CA413501457 | GJB1 | c.205T>C (p.Phe69Leu) | ClinVar dbSNP |
X | g.71223912T>G | CA413501460 | GJB1 | c.205T>G (p.Phe69Val) | |
X | g.71223912T= | CA2436388217 | GJB1 | c.205T= (p.Phe69=) | |
X | g.71223913T>A | CA413501462 | GJB1 | c.206T>A (p.Phe69Tyr) | |
X | g.71223913T>C | CA413501464 | GJB1 | c.206T>C (p.Phe69Ser) | |
X | g.71223913T>G | CA413501467 | GJB1 | c.206T>G (p.Phe69Cys) | ClinVar |
X | g.71223913T= | CA2436388218 | GJB1 | c.206T= (p.Phe69=) | |
X | g.71223914C>A | CA413501470 | GJB1 | c.207C>A (p.Phe69Leu) | |
X | g.71223914C>G | CA413501472 | GJB1 | c.207C>G (p.Phe69Leu) | |
X | g.71223914C>T | CA516821285 | GJB1 | c.207C>T (p.Phe69=) | |
X | g.71223917dup | CA915951184 | GJB1 | c.210dup (p.Ile71HisfsTer?) | ClinVar dbSNP |
X | g.71223915C>A | CA413501474 | GJB1 | c.208C>A (p.Pro70Thr) | |
X | g.71223915C= | CA2436388219 | GJB1 | c.208C= (p.Pro70=) | |
X | g.71223915C>G | CA10583953 | GJB1 | c.208C>G (p.Pro70Ala) | ClinVar dbSNP |
X | g.71223915C>T | CA413501479 | GJB1 | c.208C>T (p.Pro70Ser) | ClinVar dbSNP |
X | g.71223915_71223916delinsCC | CA2436388220 | GJB1 | c.208_209delinsCC (p.Pro70=) | |
X | g.71223915_71223916delinsTT | CA915951185 | GJB1 | c.208_209delinsTT (p.Pro70Phe) | ClinVar dbSNP |
X | g.71223916C>A | CA413501483 | GJB1 | c.209C>A (p.Pro70His) | |
X | g.71223916C>G | CA413501485 | GJB1 | c.209C>G (p.Pro70Arg) | |
X | g.71223916C>T | CA413501488 | GJB1 | c.209C>T (p.Pro70Leu) | |
X | g.71223917C>A | CA516821288 | GJB1 | c.210C>A (p.Pro70=) | |
X | g.71223917C>G | CA516821290 | GJB1 | c.210C>G (p.Pro70=) | |
X | g.71223917C>T | CA516821291 | GJB1 | c.210C>T (p.Pro70=) | |
X | g.71223918A= | CA2436388221 | GJB1 | c.211A= (p.Ile71=) | |
X | g.71223918A>C | CA413501491 | GJB1 | c.211A>C (p.Ile71Leu) | |
X | g.71223918A>G | CA413501493 | GJB1 | c.211A>G (p.Ile71Val) | ClinVar dbSNP |
X | g.71223918A>T | CA413501496 | GJB1 | c.211A>T (p.Ile71Phe) | |
X | g.71223919T>A | CA413501499 | GJB1 | c.212T>A (p.Ile71Asn) | ClinVar dbSNP |
X | g.71223919T>C | CA413501501 | GJB1 | c.212T>C (p.Ile71Thr) | ClinVar |
X | g.71223919T>G | CA413501504 | GJB1 | c.212T>G (p.Ile71Ser) | ClinVar dbSNP |
X | g.71223919T= | CA2436388222 | GJB1 | c.212T= (p.Ile71=) | |
X | g.71223920C>A | CA516821292 | GJB1 | c.213C>A (p.Ile71=) | |
X | g.71223920C= | CA2436388223 | GJB1 | c.213C= (p.Ile71=) | |
X | g.71223920C>G | CA413501507 | GJB1 | c.213C>G (p.Ile71Met) | |
X | g.71223920C>T | CA516821294 | GJB1 | c.213C>T (p.Ile71=) | dbSNP |
X | g.71223921T>A | CA413501515 | GJB1 | c.214T>A (p.Ser72Thr) | |
X | g.71223921T>C | CA413501511 | GJB1 | c.214T>C (p.Ser72Pro) | |
X | g.71223921T>G | CA413501512 | GJB1 | c.214T>G (p.Ser72Ala) |