Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189390_20189406delinsGCACACGTTCTTGCAGC | CA2077140040 | GJB2 | c.176_192delinsGCTGCAAGAACGTGTGC (p.Gly59=) | |
13 | g.20189392_20189407del | CA6904305 | GJB2 | c.176_191del (p.Gly59AlafsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189396G>A | CA134949 | GJB2 | c.186C>T (p.Asn62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189396G>C | CA387461665 | GJB2 | c.186C>G (p.Asn62Lys) | |
13 | g.20189396G= | CA2077140061 | GJB2 | c.186C= (p.Asn62=) | |
13 | g.20189396G>T | CA387461666 | GJB2 | c.186C>A (p.Asn62Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189397T>A | CA387461667 | GJB2 | c.185A>T (p.Asn62Ile) | |
13 | g.20189397T>C | CA387461668 | GJB2 | c.185A>G (p.Asn62Ser) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189397T>G | CA387461669 | GJB2 | c.185A>C (p.Asn62Thr) | |
13 | g.20189397T= | CA2077140069 | GJB2 | c.185A= (p.Asn62=) | |
13 | g.20189397_20189398insA | CA2695217717 | GJB2 | c.184_185insT (p.Asn62IlefsTer?) | |
13 | g.20189398T>A | CA387461671 | GJB2 | c.184A>T (p.Asn62Tyr) | |
13 | g.20189398T>C | CA387461672 | GJB2 | c.184A>G (p.Asn62Asp) | |
13 | g.20189398T>G | CA387461670 | GJB2 | c.184A>C (p.Asn62His) | |
13 | g.20189399C>A | CA387461673 | GJB2 | c.183G>T (p.Lys61Asn) | |
13 | g.20189399C= | CA2077140073 | GJB2 | c.183G= (p.Lys61=) | |
13 | g.20189399C>G | CA387461675 | GJB2 | c.183G>C (p.Lys61Asn) | |
13 | g.20189399C>T | CA6904307 | GJB2 | c.183G>A (p.Lys61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189400T>A | CA387461677 | GJB2 | c.182A>T (p.Lys61Met) | |
13 | g.20189400T>C | CA387461679 | GJB2 | c.182A>G (p.Lys61Arg) | |
13 | g.20189400T>G | CA387461680 | GJB2 | c.182A>C (p.Lys61Thr) | |
13 | g.20189401T>A | CA387461681 | GJB2 | c.181A>T (p.Lys61Ter) | |
13 | g.20189401T>C | CA387461683 | GJB2 | c.181A>G (p.Lys61Glu) | |
13 | g.20189401T>G | CA387461685 | GJB2 | c.181A>C (p.Lys61Gln) | |
13 | g.20189402G>A | CA483153833 | GJB2 | c.180C>T (p.Cys60=) | |
13 | g.20189402G>C | CA387461687 | GJB2 | c.180C>G (p.Cys60Trp) | |
13 | g.20189402G>T | CA387461688 | GJB2 | c.180C>A (p.Cys60Ter) | |
13 | g.20189403C>A | CA387461690 | GJB2 | c.179G>T (p.Cys60Phe) | dbSNP |
13 | g.20189403C= | CA2077140077 | GJB2 | c.179G= (p.Cys60=) | |
13 | g.20189403C>G | CA387461692 | GJB2 | c.179G>C (p.Cys60Ser) | |
13 | g.20189403C>T | CA387461694 | GJB2 | c.179G>A (p.Cys60Tyr) | gnomAD v4 COSMIC |
13 | g.20189404A= | CA2077140079 | GJB2 | c.178T= (p.Cys60=) | |
13 | g.20189404A>C | CA387461695 | GJB2 | c.178T>G (p.Cys60Gly) | ClinVar |
13 | g.20189404A>G | CA246460715 | GJB2 | c.178T>C (p.Cys60Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189404A>T | CA387461696 | GJB2 | c.178T>A (p.Cys60Ser) | |
13 | g.20189405G>A | CA6904308 | GJB2 | c.177C>T (p.Gly59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189405G>C | CA483153835 | GJB2 | c.177C>G (p.Gly59=) | |
13 | g.20189405G= | CA2077140084 | GJB2 | c.177C= (p.Gly59=) | |
13 | g.20189405G>T | CA483153836 | GJB2 | c.177C>A (p.Gly59=) | |
13 | g.20189406C>A | CA387461699 | GJB2 | c.176G>T (p.Gly59Val) | ClinVar dbSNP |
13 | g.20189406C= | CA2077140093 | GJB2 | c.176G= (p.Gly59=) | |
13 | g.20189406C>G | CA127026 | GJB2 | c.176G>C (p.Gly59Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.20189406C>T | CA273153 | GJB2 | c.176G>A (p.Gly59Asp) | ClinVar dbSNP |
13 | g.20189407del | CA2695217718 | GJB2 | c.176del (p.Gly59AlafsTer23) | |
13 | g.20189407C>A | CA387461702 | GJB2 | c.175G>T (p.Gly59Cys) | |
13 | g.20189407C= | CA2077140098 | GJB2 | c.175G= (p.Gly59=) | |
13 | g.20189407C>G | CA387461703 | GJB2 | c.175G>C (p.Gly59Arg) | ClinVar dbSNP |
13 | g.20189407C>T | CA127035 | GJB2 | c.175G>A (p.Gly59Ser) | ClinVar dbSNP |
13 | g.20189408T>A | CA483153838 | GJB2 | c.174A>T (p.Pro58=) | |
13 | g.20189408T>C | CA6904309 | GJB2 | c.174A>G (p.Pro58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |