Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20223142A= | CA2077159937 | GJB6 | c.339T= (p.Asn113=) | |
13 | g.20223142A>C | CA387468330 | GJB6 | c.339T>G (p.Asn113Lys) | gnomAD v4 |
13 | g.20223142A>G | CA483154305 | GJB6 | c.339T>C (p.Asn113=) | gnomAD v4 |
13 | g.20223142A>T | CA198811 | GJB6 | c.339T>A (p.Asn113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223143T>A | CA387468331 | GJB6 | c.338A>T (p.Asn113Ile) | |
13 | g.20223143T>C | CA387468333 | GJB6 | c.338A>G (p.Asn113Ser) | ClinVar |
13 | g.20223143T>G | CA387468332 | GJB6 | c.338A>C (p.Asn113Thr) | |
13 | g.20223144T>A | CA387468334 | GJB6 | c.337A>T (p.Asn113Tyr) | |
13 | g.20223144T>C | CA387468336 | GJB6 | c.337A>G (p.Asn113Asp) | gnomAD v4 |
13 | g.20223144T>G | CA387468335 | GJB6 | c.337A>C (p.Asn113His) | |
13 | g.20223145C>A | CA387468337 | GJB6 | c.336G>T (p.Arg112Ser) | |
13 | g.20223145C>G | CA387468338 | GJB6 | c.336G>C (p.Arg112Ser) | |
13 | g.20223145C>T | CA483154306 | GJB6 | c.336G>A (p.Arg112=) | gnomAD v4 |
13 | g.20223146del | CA2575364835 | GJB6 | c.336del (p.Asn113MetfsTer6) | |
13 | g.20223146C>A | CA387468339 | GJB6 | c.335G>T (p.Arg112Met) | |
13 | g.20223146C>G | CA387468340 | GJB6 | c.335G>C (p.Arg112Thr) | |
13 | g.20223146C>T | CA387468341 | GJB6 | c.335G>A (p.Arg112Lys) | |
13 | g.20223147T>A | CA387468342 | GJB6 | c.334A>T (p.Arg112Trp) | |
13 | g.20223147T>C | CA387468343 | GJB6 | c.334A>G (p.Arg112Gly) | |
13 | g.20223147T>G | CA483154307 | GJB6 | c.334A>C (p.Arg112=) | |
13 | g.20223148C>A | CA387468344 | GJB6 | c.333G>T (p.Lys111Asn) | |
13 | g.20223148C>G | CA387468345 | GJB6 | c.333G>C (p.Lys111Asn) | |
13 | g.20223148C>T | CA483154308 | GJB6 | c.333G>A (p.Lys111=) | |
13 | g.20223149T>A | CA387468348 | GJB6 | c.332A>T (p.Lys111Met) | |
13 | g.20223149T>C | CA387468347 | GJB6 | c.332A>G (p.Lys111Arg) | |
13 | g.20223149T>G | CA387468346 | GJB6 | c.332A>C (p.Lys111Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223149T= | CA2077159941 | GJB6 | c.332A= (p.Lys111=) | |
13 | g.20223150T>A | CA387468349 | GJB6 | c.331A>T (p.Lys111Ter) | |
13 | g.20223150T>C | CA387468350 | GJB6 | c.331A>G (p.Lys111Glu) | gnomAD v4 |
13 | g.20223150T>G | CA387468351 | GJB6 | c.331A>C (p.Lys111Gln) | |
13 | g.20223151C>A | CA387468352 | GJB6 | c.330G>T (p.Glu110Asp) | |
13 | g.20223151C>G | CA387468353 | GJB6 | c.330G>C (p.Glu110Asp) | |
13 | g.20223151C>T | CA483154309 | GJB6 | c.330G>A (p.Glu110=) | gnomAD v4 |
13 | g.20223151_20223153del | CA2798416991 | GJB6 | c.328_330del (p.Glu110del) | |
13 | g.20223152T>A | CA387468354 | GJB6 | c.329A>T (p.Glu110Val) | |
13 | g.20223152T>C | CA387468355 | GJB6 | c.329A>G (p.Glu110Gly) | |
13 | g.20223152T>G | CA387468356 | GJB6 | c.329A>C (p.Glu110Ala) | |
13 | g.20223153C>A | CA387468357 | GJB6 | c.328G>T (p.Glu110Ter) | |
13 | g.20223153C= | CA2077159944 | GJB6 | c.328G= (p.Glu110=) | |
13 | g.20223153C>G | CA387468358 | GJB6 | c.328G>C (p.Glu110Gln) | |
13 | g.20223153C>T | CA246490904 | GJB6 | c.328G>A (p.Glu110Lys) | dbSNP gnomAD v4 |
13 | g.20223154T>A | CA483154310 | GJB6 | c.327A>T (p.Gly109=) | |
13 | g.20223154T>C | CA483154311 | GJB6 | c.327A>G (p.Gly109=) | gnomAD v4 |
13 | g.20223154T>G | CA483154312 | GJB6 | c.327A>C (p.Gly109=) | |
13 | g.20223155C>A | CA387468359 | GJB6 | c.326G>T (p.Gly109Val) | |
13 | g.20223155C= | CA2077159947 | GJB6 | c.326G= (p.Gly109=) | |
13 | g.20223155C>G | CA387468360 | GJB6 | c.326G>C (p.Gly109Ala) | |
13 | g.20223155C>T | CA198808 | GJB6 | c.326G>A (p.Gly109Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223156C>A | CA387468361 | GJB6 | c.325G>T (p.Gly109Ter) | |
13 | g.20223156C= | CA2077159950 | GJB6 | c.325G= (p.Gly109=) |