Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224007_71224008del | CA2579640066 | GJB1 | c.300_301del (p.Ile101ArgfsTer8) | |
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=) | |
X | g.71224013G>T | CA413501857 | GJB1 | c.306G>T (p.Glu102Asp) | |
X | g.71224014A= | CA2436388294 | GJB1 | c.307A= (p.Lys103=) | |
X | g.71224014A>C | CA413501863 | GJB1 | c.307A>C (p.Lys103Gln) | |
X | g.71224014A>G | CA413501861 | GJB1 | c.307A>G (p.Lys103Glu) | ClinVar dbSNP gnomAD v4 |
X | g.71224014A>T | CA413501859 | GJB1 | c.307A>T (p.Lys103Ter) | |
X | g.71224015dup | CA915951191 | GJB1 | c.308dup (p.Lys104GlufsTer6) | ClinVar dbSNP |
X | g.71224015A>C | CA413501864 | GJB1 | c.308A>C (p.Lys103Thr) | |
X | g.71224015A>G | CA413501865 | GJB1 | c.308A>G (p.Lys103Arg) | |
X | g.71224015A>T | CA413501867 | GJB1 | c.308A>T (p.Lys103Met) | |
X | g.71224016G>A | CA516820842 | GJB1 | c.309G>A (p.Lys103=) | ClinVar dbSNP gnomAD v4 |
X | g.71224016G>C | CA413501869 | GJB1 | c.309G>C (p.Lys103Asn) | |
X | g.71224016G= | CA2436388296 | GJB1 | c.309G= (p.Lys103=) | |
X | g.71224016G>T | CA413501870 | GJB1 | c.309G>T (p.Lys103Asn) | |
X | g.71224016_71224017delinsGA | CA2436388295 | GJB1 | c.309_310delinsGA (p.Lys103=) | |
X | g.71224017A>C | CA413501872 | GJB1 | c.310A>C (p.Lys104Gln) | |
X | g.71224017A>G | CA413501874 | GJB1 | c.310A>G (p.Lys104Glu) | |
X | g.71224017A>T | CA413501875 | GJB1 | c.310A>T (p.Lys104Ter) | ClinVar |
X | g.71224020del | CA915951192 | GJB1 | c.313del (p.Met105CysfsTer16) | ClinVar dbSNP |
X | g.71224018A= | CA2436388297 | GJB1 | c.311A= (p.Lys104=) | |
X | g.71224018A>C | CA413501877 | GJB1 | c.311A>C (p.Lys104Thr) | ClinVar dbSNP |
X | g.71224018A>G | CA413501879 | GJB1 | c.311A>G (p.Lys104Arg) |