Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20223121G>A | CA483154298 | GJB6 | c.360C>T (p.Asp120=) | |
13 | g.20223121G>C | CA387468283 | GJB6 | c.360C>G (p.Asp120Glu) | |
13 | g.20223121G>T | CA387468284 | GJB6 | c.360C>A (p.Asp120Glu) | |
13 | g.20223122T>A | CA387468285 | GJB6 | c.359A>T (p.Asp120Val) | |
13 | g.20223122T>C | CA6904453 | GJB6 | c.359A>G (p.Asp120Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223122T>G | CA387468286 | GJB6 | c.359A>C (p.Asp120Ala) | |
13 | g.20223122T= | CA2077159888 | GJB6 | c.359A= (p.Asp120=) | |
13 | g.20223123C>A | CA387468287 | GJB6 | c.358G>T (p.Asp120Tyr) | |
13 | g.20223123C= | CA2077159895 | GJB6 | c.358G= (p.Asp120=) | |
13 | g.20223123C>G | CA387468288 | GJB6 | c.358G>C (p.Asp120His) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20223123C>T | CA6904454 | GJB6 | c.358G>A (p.Asp120Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223124C>A | CA387468289 | GJB6 | c.357G>T (p.Glu119Asp) | |
13 | g.20223124C= | CA2077159897 | GJB6 | c.357G= (p.Glu119=) | |
13 | g.20223124C>G | CA387468290 | GJB6 | c.357G>C (p.Glu119Asp) | |
13 | g.20223124C>T | CA483154299 | GJB6 | c.357G>A (p.Glu119=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20223125T>A | CA387468291 | GJB6 | c.356A>T (p.Glu119Val) | |
13 | g.20223125T>C | CA387468292 | GJB6 | c.356A>G (p.Glu119Gly) | |
13 | g.20223125T>G | CA387468293 | GJB6 | c.356A>C (p.Glu119Ala) | |
13 | g.20223126C>A | CA387468294 | GJB6 | c.355G>T (p.Glu119Ter) | |
13 | g.20223126C>G | CA387468296 | GJB6 | c.355G>C (p.Glu119Gln) | gnomAD v4 |
13 | g.20223126C>T | CA387468295 | GJB6 | c.355G>A (p.Glu119Lys) | |
13 | g.20223127T>A | CA483154300 | GJB6 | c.354A>T (p.Ile118=) | |
13 | g.20223127T>C | CA387468297 | GJB6 | c.354A>G (p.Ile118Met) | |
13 | g.20223127T>G | CA483154301 | GJB6 | c.354A>C (p.Ile118=) | ClinVar dbSNP |
13 | g.20223127T= | CA2077159901 | GJB6 | c.354A= (p.Ile118=) | |
13 | g.20223128A= | CA2077159906 | GJB6 | c.353T= (p.Ile118=) | |
13 | g.20223128A>C | CA387468298 | GJB6 | c.353T>G (p.Ile118Arg) | gnomAD v4 |
13 | g.20223128A>G | CA6904455 | GJB6 | c.353T>C (p.Ile118Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223128A>T | CA6904456 | GJB6 | c.353T>A (p.Ile118Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223129T>A | CA387468299 | GJB6 | c.352A>T (p.Ile118Leu) | |
13 | g.20223129T>C | CA387468300 | GJB6 | c.352A>G (p.Ile118Val) | ClinVar dbSNP |
13 | g.20223129T>G | CA387468301 | GJB6 | c.352A>C (p.Ile118Leu) | |
13 | g.20223129T= | CA2077159909 | GJB6 | c.352A= (p.Ile118=) | |
13 | g.20223131_20223136dup | CA696357510 | GJB6 | c.347_352dup (p.Asp117_Ile118insLysAsp) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20223130G>A | CA6904457 | GJB6 | c.351C>T (p.Asp117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20223130G>C | CA387468302 | GJB6 | c.351C>G (p.Asp117Glu) | |
13 | g.20223130G= | CA2077159912 | GJB6 | c.351C= (p.Asp117=) | |
13 | g.20223130G>T | CA387468303 | GJB6 | c.351C>A (p.Asp117Glu) | |
13 | g.20223131T>A | CA387468306 | GJB6 | c.350A>T (p.Asp117Val) | |
13 | g.20223131T>C | CA387468305 | GJB6 | c.350A>G (p.Asp117Gly) | |
13 | g.20223131T>G | CA387468304 | GJB6 | c.350A>C (p.Asp117Ala) | |
13 | g.20223132C>A | CA387468307 | GJB6 | c.349G>T (p.Asp117Tyr) | |
13 | g.20223132C= | CA2077159916 | GJB6 | c.349G= (p.Asp117=) | |
13 | g.20223132C>G | CA6904458 | GJB6 | c.349G>C (p.Asp117His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223132C>T | CA387468308 | GJB6 | c.349G>A (p.Asp117Asn) | |
13 | g.20223133T>A | CA387468309 | GJB6 | c.348A>T (p.Lys116Asn) | |
13 | g.20223133T>C | CA483154302 | GJB6 | c.348A>G (p.Lys116=) | |
13 | g.20223133T>G | CA387468310 | GJB6 | c.348A>C (p.Lys116Asn) | |
13 | g.20223134T>A | CA387468311 | GJB6 | c.347A>T (p.Lys116Ile) | |
13 | g.20223134T>C | CA387468312 | GJB6 | c.347A>G (p.Lys116Arg) | gnomAD v4 |