| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189438del | CA2575364823 | GJB2 | c.145del (p.Ala49ProfsTer?) | ClinVar |
| 13 | g.20189438C>A | CA387461813 | GJB2 | c.144G>T (p.Gln48His) | |
| 13 | g.20189438C>G | CA387461815 | GJB2 | c.144G>C (p.Gln48His) | gnomAD v4 |
| 13 | g.20189438C>T | CA483153872 | GJB2 | c.144G>A (p.Gln48=) | |
| 13 | g.20189439T>A | CA387461816 | GJB2 | c.143A>T (p.Gln48Leu) | |
| 13 | g.20189439T>C | CA387461817 | GJB2 | c.143A>G (p.Gln48Arg) | |
| 13 | g.20189439T>G | CA387461819 | GJB2 | c.143A>C (p.Gln48Pro) | |
| 13 | g.20189440_20189445del | CA2695217722 | GJB2 | c.138_143del (p.Asp46_Gln48delinsGlu) | |
| 13 | g.20189440G>A | CA387461820 | GJB2 | c.142C>T (p.Gln48Ter) | |
| 13 | g.20189440G>C | CA387461821 | GJB2 | c.142C>G (p.Gln48Glu) | |
| 13 | g.20189440G>T | CA387461823 | GJB2 | c.142C>A (p.Gln48Lys) | |
| 13 | g.20189440_20189445delinsGCTCAT | CA2077140204 | GJB2 | c.137_142delinsATGAGC (p.Asp46=) | |
| 13 | g.20189441C>A | CA387461825 | GJB2 | c.141G>T (p.Glu47Asp) | |
| 13 | g.20189441C= | CA2077140210 | GJB2 | c.141G= (p.Glu47=) | |
| 13 | g.20189441C>G | CA387461826 | GJB2 | c.141G>C (p.Glu47Asp) | |
| 13 | g.20189441C>T | CA246460808 | GJB2 | c.141G>A (p.Glu47=) | dbSNP gnomAD v4 |
| 13 | g.20189444_20189448del | CA1139663002 | GJB2 | c.137_141del (p.Asp46AlafsTer?) | ClinVar dbSNP |
| 13 | g.20189442T>A | CA387461831 | GJB2 | c.140A>T (p.Glu47Val) | |
| 13 | g.20189442T>C | CA387461830 | GJB2 | c.140A>G (p.Glu47Gly) | |
| 13 | g.20189442T>G | CA387461829 | GJB2 | c.140A>C (p.Glu47Ala) | |
| 13 | g.20189443C>A | CA172213 | GJB2 | c.139G>T (p.Glu47Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189443C= | CA2077140219 | GJB2 | c.139G= (p.Glu47=) | |
| 13 | g.20189443C>G | CA387461834 | GJB2 | c.139G>C (p.Glu47Gln) | |
| 13 | g.20189443C>T | CA387461835 | GJB2 | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189444A>C | CA387461837 | GJB2 | c.138T>G (p.Asp46Glu) | |
| 13 | g.20189444A>G | CA483153874 | GJB2 | c.138T>C (p.Asp46=) | |
| 13 | g.20189444A>T | CA387461839 | GJB2 | c.138T>A (p.Asp46Glu) | |
| 13 | g.20189445T>A | CA387461841 | GJB2 | c.137A>T (p.Asp46Val) | |
| 13 | g.20189445T>C | CA387461843 | GJB2 | c.137A>G (p.Asp46Gly) | |
| 13 | g.20189445T>G | CA387461844 | GJB2 | c.137A>C (p.Asp46Ala) | |
| 13 | g.20189446C>A | CA387461846 | GJB2 | c.136G>T (p.Asp46Tyr) | |
| 13 | g.20189446C= | CA2077140225 | GJB2 | c.136G= (p.Asp46=) | |
| 13 | g.20189446C>G | CA387461847 | GJB2 | c.136G>C (p.Asp46His) | ClinVar dbSNP |
| 13 | g.20189446C>T | CA16621541 | GJB2 | c.136G>A (p.Asp46Asn) | ClinVar dbSNP |
| 13 | g.20189447T>A | CA6904312 | GJB2 | c.135A>T (p.Gly45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189447T>C | CA483153877 | GJB2 | c.135A>G (p.Gly45=) | dbSNP |
| 13 | g.20189447T>G | CA483153878 | GJB2 | c.135A>C (p.Gly45=) | |
| 13 | g.20189447T= | CA2077140233 | GJB2 | c.135A= (p.Gly45=) | |
| 13 | g.20189447_20189448delinsTC | CA2077140234 | GJB2 | c.134_135delinsGA (p.Gly45=) | |
| 13 | g.20189448C>A | CA387461852 | GJB2 | c.134G>T (p.Gly45Val) | |
| 13 | g.20189448C= | CA2077140245 | GJB2 | c.134G= (p.Gly45=) | |
| 13 | g.20189448C>G | CA387461853 | GJB2 | c.134G>C (p.Gly45Ala) | |
| 13 | g.20189448C>T | CA127033 | GJB2 | c.134G>A (p.Gly45Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189451del | CA16041594 | GJB2 | c.134del (p.Gly45GlufsTer?) | ClinVar dbSNP |
| 13 | g.20189449C>A | CA387461857 | GJB2 | c.133G>T (p.Gly45Ter) | gnomAD v4 |
| 13 | g.20189449C= | CA2077140251 | GJB2 | c.133G= (p.Gly45=) | |
| 13 | g.20189449C>G | CA387461855 | GJB2 | c.133G>C (p.Gly45Arg) | |
| 13 | g.20189449C>T | CA387461860 | GJB2 | c.133G>A (p.Gly45Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189450C>A | CA387461862 | GJB2 | c.132G>T (p.Trp44Cys) | |
| 13 | g.20189450C= | CA2077140259 | GJB2 | c.132G= (p.Trp44=) |