Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189426_20189429del | CA2695217720 | GJB2 | c.155_158del (p.Val52AlafsTer29) | ClinVar |
13 | g.20189428_20189430delinsCAA | CA2077140172 | GJB2 | c.152_154delinsTTG (p.Phe51=) | |
13 | g.20189429A>C | CA387461778 | GJB2 | c.153T>G (p.Phe51Leu) | |
13 | g.20189429A>G | CA483153861 | GJB2 | c.153T>C (p.Phe51=) | |
13 | g.20189429A>T | CA387461779 | GJB2 | c.153T>A (p.Phe51Leu) | |
13 | g.20189431del | CA2622252304 | GJB2 | c.153del (p.Phe51LeufsTer?) | gnomAD v4 |
13 | g.20189430_20189431del | CA6904311 | GJB2 | c.152_153del (p.Phe51CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189430A>C | CA387461782 | GJB2 | c.152T>G (p.Phe51Cys) | |
13 | g.20189430A>G | CA387461784 | GJB2 | c.152T>C (p.Phe51Ser) | |
13 | g.20189430A>T | CA387461785 | GJB2 | c.152T>A (p.Phe51Tyr) | |
13 | g.20189431A>C | CA387461787 | GJB2 | c.151T>G (p.Phe51Val) | |
13 | g.20189431A>G | CA387461790 | GJB2 | c.151T>C (p.Phe51Leu) | gnomAD v4 |
13 | g.20189431A>T | CA387461788 | GJB2 | c.151T>A (p.Phe51Ile) | |
13 | g.20189432G>A | CA483153865 | GJB2 | c.150C>T (p.Asp50=) | |
13 | g.20189432G>C | CA387461792 | GJB2 | c.150C>G (p.Asp50Glu) | |
13 | g.20189432G>T | CA387461793 | GJB2 | c.150C>A (p.Asp50Glu) | |
13 | g.20189433T>A | CA387461795 | GJB2 | c.149A>T (p.Asp50Val) | |
13 | g.20189433T>C | CA387461797 | GJB2 | c.149A>G (p.Asp50Gly) | |
13 | g.20189433T>G | CA387461799 | GJB2 | c.149A>C (p.Asp50Ala) | |
13 | g.20189434C>A | CA127031 | GJB2 | c.148G>T (p.Asp50Tyr) | ClinVar dbSNP |
13 | g.20189434C= | CA2077140187 | GJB2 | c.148G= (p.Asp50=) | |
13 | g.20189434C>G | CA387461801 | GJB2 | c.148G>C (p.Asp50His) | |
13 | g.20189434C>T | CA127027 | GJB2 | c.148G>A (p.Asp50Asn) | ClinVar dbSNP |
13 | g.20189435G>A | CA483153866 | GJB2 | c.147C>T (p.Ala49=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189435G>C | CA483153867 | GJB2 | c.147C>G (p.Ala49=) | |
13 | g.20189435G= | CA2077140195 | GJB2 | c.147C= (p.Ala49=) | |
13 | g.20189435G>T | CA483153868 | GJB2 | c.147C>A (p.Ala49=) | |
13 | g.20189436del | CA2695217721 | GJB2 | c.147del (p.Asp50ThrfsTer?) | |
13 | g.20189436G>A | CA16042821 | GJB2 | c.146C>T (p.Ala49Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189436G>C | CA387461804 | GJB2 | c.146C>G (p.Ala49Gly) | |
13 | g.20189436G= | CA2077140200 | GJB2 | c.146C= (p.Ala49=) | |
13 | g.20189436G>T | CA387461805 | GJB2 | c.146C>A (p.Ala49Asp) | |
13 | g.20189437C>A | CA387461807 | GJB2 | c.145G>T (p.Ala49Ser) | |
13 | g.20189437C>G | CA387461811 | GJB2 | c.145G>C (p.Ala49Pro) | |
13 | g.20189437C>T | CA387461809 | GJB2 | c.145G>A (p.Ala49Thr) | |
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) |