Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189349dup | CA912980098 | GJB2 | c.235dup (p.Leu79ProfsTer23) | |
13 | g.20189349del | CA127025 | GJB2 | c.235del (p.Leu79CysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189348G>A | CA483153792 | GJB2 | c.234C>T (p.Ala78=) | gnomAD v4 |
13 | g.20189348G>C | CA483153790 | GJB2 | c.234C>G (p.Ala78=) | |
13 | g.20189348G>T | CA483153791 | GJB2 | c.234C>A (p.Ala78=) | |
13 | g.20189349G>A | CA387461569 | GJB2 | c.233C>T (p.Ala78Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189349G>C | CA387461570 | GJB2 | c.233C>G (p.Ala78Gly) | |
13 | g.20189349G= | CA2077139917 | GJB2 | c.233C= (p.Ala78=) | |
13 | g.20189349G>T | CA387461571 | GJB2 | c.233C>A (p.Ala78Asp) | ClinVar dbSNP |
13 | g.20189350C>A | CA387461572 | GJB2 | c.232G>T (p.Ala78Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.20189350C= | CA2077139924 | GJB2 | c.232G= (p.Ala78=) | |
13 | g.20189350C>G | CA387461573 | GJB2 | c.232G>C (p.Ala78Pro) | |
13 | g.20189350C>T | CA387461574 | GJB2 | c.232G>A (p.Ala78Thr) | ClinVar dbSNP |
13 | g.20189352dup | CA658823475 | GJB2 | c.232dup (p.Ala78GlyfsTer24) | ClinVar dbSNP |
13 | g.20189351C>A | CA387461575 | GJB2 | c.231G>T (p.Trp77Cys) | |
13 | g.20189351C= | CA2077139933 | GJB2 | c.231G= (p.Trp77=) | |
13 | g.20189351C>G | CA387461576 | GJB2 | c.231G>C (p.Trp77Cys) | |
13 | g.20189351C>T | CA341437 | GJB2 | c.231G>A (p.Trp77Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189352C>A | CA387461577 | GJB2 | c.230G>T (p.Trp77Leu) | |
13 | g.20189352C= | CA2077139937 | GJB2 | c.230G= (p.Trp77=) | |
13 | g.20189352C>G | CA387461578 | GJB2 | c.230G>C (p.Trp77Ser) | |
13 | g.20189352C>T | CA274460 | GJB2 | c.230G>A (p.Trp77Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189353A= | CA2077139941 | GJB2 | c.229T= (p.Trp77=) | |
13 | g.20189353A>C | CA387461580 | GJB2 | c.229T>G (p.Trp77Gly) | |
13 | g.20189353A>G | CA222246 | GJB2 | c.229T>C (p.Trp77Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189353A>T | CA387461579 | GJB2 | c.229T>A (p.Trp77Arg) | |
13 | g.20189354T>A | CA483153793 | GJB2 | c.228A>T (p.Leu76=) | |
13 | g.20189354T>C | CA483153794 | GJB2 | c.228A>G (p.Leu76=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189354T>G | CA483153795 | GJB2 | c.228A>C (p.Leu76=) | |
13 | g.20189354T= | CA2077139944 | GJB2 | c.228A= (p.Leu76=) | |
13 | g.20189355A= | CA2077139948 | GJB2 | c.227T= (p.Leu76=) | |
13 | g.20189355A>C | CA387461581 | GJB2 | c.227T>G (p.Leu76Arg) | |
13 | g.20189355A>G | CA134953 | GJB2 | c.227T>C (p.Leu76Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189355A>T | CA387461582 | GJB2 | c.227T>A (p.Leu76Gln) | |
13 | g.20189356G>A | CA483153796 | GJB2 | c.226C>T (p.Leu76=) | |
13 | g.20189356G>C | CA387461583 | GJB2 | c.226C>G (p.Leu76Val) | ClinVar dbSNP |
13 | g.20189356G= | CA2077139952 | GJB2 | c.226C= (p.Leu76=) | |
13 | g.20189356G>T | CA387461584 | GJB2 | c.226C>A (p.Leu76Ile) | gnomAD v4 |
13 | g.20189357C>A | CA6904301 | GJB2 | c.225G>T (p.Arg75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189357C= | CA2077139954 | GJB2 | c.225G= (p.Arg75=) | |
13 | g.20189357C>G | CA483153798 | GJB2 | c.225G>C (p.Arg75=) | |
13 | g.20189357C>T | CA483153797 | GJB2 | c.225G>A (p.Arg75=) | |
13 | g.20189358C>A | CA387461585 | GJB2 | c.224G>T (p.Arg75Leu) | |
13 | g.20189358C= | CA2077139956 | GJB2 | c.224G= (p.Arg75=) | |
13 | g.20189358C>G | CA387461586 | GJB2 | c.224G>C (p.Arg75Pro) | |
13 | g.20189358C>T | CA127030 | GJB2 | c.224G>A (p.Arg75Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189359G>A | CA257676 | GJB2 | c.223C>T (p.Arg75Trp) | ClinVar dbSNP |
13 | g.20189359G>C | CA387461587 | GJB2 | c.223C>G (p.Arg75Gly) | ClinVar dbSNP |
13 | g.20189359G= | CA2077139961 | GJB2 | c.223C= (p.Arg75=) | |
13 | g.20189359G>T | CA483153799 | GJB2 | c.223C>A (p.Arg75=) |