Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
X | g.71224009T>A | CA413501844 | GJB1 | c.302T>A (p.Ile101Lys) | |
X | g.71224009T>C | CA413501841 | GJB1 | c.302T>C (p.Ile101Thr) | ClinVar gnomAD v4 |
X | g.71224009T>G | CA413501842 | GJB1 | c.302T>G (p.Ile101Arg) | |
X | g.71224010A>C | CA516821375 | GJB1 | c.303A>C (p.Ile101=) | |
X | g.71224010A>G | CA413501846 | GJB1 | c.303A>G (p.Ile101Met) | |
X | g.71224010A>T | CA516821376 | GJB1 | c.303A>T (p.Ile101=) | |
X | g.71224010_71224013delinsAGAG | CA2436388290 | GJB1 | c.303_306delinsAGAG (p.Ile101=) | |
X | g.71224011G>A | CA413501848 | GJB1 | c.304G>A (p.Glu102Lys) | gnomAD v4 |
X | g.71224011G>C | CA413501849 | GJB1 | c.304G>C (p.Glu102Gln) | |
X | g.71224011G= | CA2436388291 | GJB1 | c.304G= (p.Glu102=) | |
X | g.71224011G>T | CA413501850 | GJB1 | c.304G>T (p.Glu102Ter) | ClinVar dbSNP |
X | g.71224011_71224013del | CA658659010 | GJB1 | c.304_306del (p.Glu102del) | ClinVar dbSNP |
X | g.71224012A= | CA2436388292 | GJB1 | c.305A= (p.Glu102=) | |
X | g.71224012A>C | CA413501852 | GJB1 | c.305A>C (p.Glu102Ala) | |
X | g.71224012A>G | CA339218 | GJB1 | c.305A>G (p.Glu102Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224012A>T | CA413501854 | GJB1 | c.305A>T (p.Glu102Val) | |
X | g.71224012dup | CA2695234563 | GJB1 | c.305dup (p.Lys103GlufsTer7) | |
X | g.71224013G>A | CA516821377 | GJB1 | c.306G>A (p.Glu102=) | dbSNP gnomAD v4 |
X | g.71224013G>C | CA413501856 | GJB1 | c.306G>C (p.Glu102Asp) | |
X | g.71224013G= | CA2436388293 | GJB1 | c.306G= (p.Glu102=) |