Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223996C>A | CA413501784 | GJB1 | c.289C>A (p.His97Asn) | |
X | g.71223996C>G | CA413501786 | GJB1 | c.289C>G (p.His97Asp) | |
X | g.71223996C>T | CA413501788 | GJB1 | c.289C>T (p.His97Tyr) | |
X | g.71223997A>C | CA413501790 | GJB1 | c.290A>C (p.His97Pro) | |
X | g.71223997A>G | CA413501793 | GJB1 | c.290A>G (p.His97Arg) | ClinVar dbSNP |
X | g.71223997A>T | CA413501791 | GJB1 | c.290A>T (p.His97Leu) | |
X | g.71223998C>A | CA413501794 | GJB1 | c.291C>A (p.His97Gln) | |
X | g.71223998C>G | CA413501796 | GJB1 | c.291C>G (p.His97Gln) | |
X | g.71223998C>T | CA516821371 | GJB1 | c.291C>T (p.His97=) | |
X | g.71223999C>A | CA413501798 | GJB1 | c.292C>A (p.Gln98Lys) | |
X | g.71223999C= | CA2436388283 | GJB1 | c.292C= (p.Gln98=) | |
X | g.71223999C>G | CA413501799 | GJB1 | c.292C>G (p.Gln98Glu) | |
X | g.71223999C>T | CA413501801 | GJB1 | c.292C>T (p.Gln98Ter) | ClinVar dbSNP |
X | g.71224000A>C | CA413501803 | GJB1 | c.293A>C (p.Gln98Pro) | |
X | g.71224000A>G | CA413501804 | GJB1 | c.293A>G (p.Gln98Arg) | |
X | g.71224000A>T | CA413501806 | GJB1 | c.293A>T (p.Gln98Leu) | |
X | g.71224001G>A | CA516821372 | GJB1 | c.294G>A (p.Gln98=) | ClinVar dbSNP |
X | g.71224001G>C | CA413501807 | GJB1 | c.294G>C (p.Gln98His) | gnomAD v4 |
X | g.71224001G= | CA2436388284 | GJB1 | c.294G= (p.Gln98=) | |
X | g.71224001G>T | CA413501809 | GJB1 | c.294G>T (p.Gln98His) | gnomAD v4 |
X | g.71224002C>A | CA413501810 | GJB1 | c.295C>A (p.Gln99Lys) | |
X | g.71224002C= | CA2436388285 | GJB1 | c.295C= (p.Gln99=) | |
X | g.71224002C>G | CA413501812 | GJB1 | c.295C>G (p.Gln99Glu) | |
X | g.71224002C>T | CA413501814 | GJB1 | c.295C>T (p.Gln99Ter) | ClinVar dbSNP |
X | g.71224004_71224006dup | CA891844219 | GJB1 | c.297_299dup (p.Gln99_His100insGln) | ClinVar dbSNP |
X | g.71224003A>C | CA413501815 | GJB1 | c.296A>C (p.Gln99Pro) | |
X | g.71224003A>G | CA413501818 | GJB1 | c.296A>G (p.Gln99Arg) | |
X | g.71224003A>T | CA413501816 | GJB1 | c.296A>T (p.Gln99Leu) | |
X | g.71224004A= | CA2436388286 | GJB1 | c.297A= (p.Gln99=) | |
X | g.71224004A>C | CA413501820 | GJB1 | c.297A>C (p.Gln99His) | |
X | g.71224004A>G | CA516821373 | GJB1 | c.297A>G (p.Gln99=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224004A>T | CA413501821 | GJB1 | c.297A>T (p.Gln99His) | |
X | g.71224007_71224008del | CA2579640066 | GJB1 | c.300_301del (p.Ile101ArgfsTer8) | |
X | g.71224005C>A | CA413501823 | GJB1 | c.298C>A (p.His100Asn) | |
X | g.71224005C= | CA2436388287 | GJB1 | c.298C= (p.His100=) | |
X | g.71224005C>G | CA413501825 | GJB1 | c.298C>G (p.His100Asp) | |
X | g.71224005C>T | CA413501826 | GJB1 | c.298C>T (p.His100Tyr) | ClinVar dbSNP |
X | g.71224006A= | CA2436388288 | GJB1 | c.299A= (p.His100=) | |
X | g.71224006A>C | CA413501828 | GJB1 | c.299A>C (p.His100Pro) | COSMIC |
X | g.71224006A>G | CA413501829 | GJB1 | c.299A>G (p.His100Arg) | COSMIC |
X | g.71224006A>T | CA413501831 | GJB1 | c.299A>T (p.His100Leu) | ClinVar dbSNP |
X | g.71224006_71224007insT | CA2550433948 | GJB1 | c.299_300insT (p.Ile101HisfsTer9) | |
X | g.71224007C>A | CA413501833 | GJB1 | c.300C>A (p.His100Gln) | gnomAD v4 |
X | g.71224007C= | CA2436388289 | GJB1 | c.300C= (p.His100=) | |
X | g.71224007C>G | CA413501835 | GJB1 | c.300C>G (p.His100Gln) | ClinVar dbSNP |
X | g.71224007C>T | CA516821374 | GJB1 | c.300C>T (p.His100=) | ClinVar gnomAD v4 |
X | g.71224008A>C | CA413501838 | GJB1 | c.301A>C (p.Ile101Leu) | ClinVar |
X | g.71224008A>G | CA413501840 | GJB1 | c.301A>G (p.Ile101Val) | gnomAD v4 |
X | g.71224008A>T | CA413501836 | GJB1 | c.301A>T (p.Ile101Leu) | |
X | g.71224009_71224010del | CA2695234562 | GJB1 | c.302_303del (p.Ile101ArgfsTer8) |