Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20188916dup | CA645587643 | GJB2 | c.671dup (p.Pro225AlafsTer?) | gnomAD v4 COSMIC |
13 | g.20188916del | CA2622252099 | GJB2 | c.671del (p.Lys224SerfsTer10) | gnomAD v4 |
13 | g.20188913_20188916del | CA658823443 | GJB2 | c.668_671del (p.Lys223SerfsTer10) | ClinVar dbSNP |
13 | g.20188916T>A | CA483154214 | GJB2 | c.666A>T (p.Ser222=) | |
13 | g.20188916T>C | CA483154215 | GJB2 | c.666A>G (p.Ser222=) | |
13 | g.20188916T>G | CA483154217 | GJB2 | c.666A>C (p.Ser222=) | |
13 | g.20188917G>A | CA387460687 | GJB2 | c.665C>T (p.Ser222Leu) | |
13 | g.20188917G>C | CA387460688 | GJB2 | c.665C>G (p.Ser222Ter) | gnomAD v4 |
13 | g.20188917G= | CA2077138608 | GJB2 | c.665C= (p.Ser222=) | |
13 | g.20188917G>T | CA6904213 | GJB2 | c.665C>A (p.Ser222Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188918A= | CA2077138612 | GJB2 | c.664T= (p.Ser222=) | |
13 | g.20188918A>C | CA387460689 | GJB2 | c.664T>G (p.Ser222Ala) | |
13 | g.20188918A>G | CA387460690 | GJB2 | c.664T>C (p.Ser222Pro) | |
13 | g.20188918A>T | CA6904214 | GJB2 | c.664T>A (p.Ser222Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188919C>A | CA387460691 | GJB2 | c.663G>T (p.Lys221Asn) | |
13 | g.20188919C= | CA2077138615 | GJB2 | c.663G= (p.Lys221=) | |
13 | g.20188919C>G | CA134993 | GJB2 | c.663G>C (p.Lys221Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188919C>T | CA483154220 | GJB2 | c.663G>A (p.Lys221=) | |
13 | g.20188920T>A | CA387460693 | GJB2 | c.662A>T (p.Lys221Met) | |
13 | g.20188920T>C | CA387460694 | GJB2 | c.662A>G (p.Lys221Arg) | |
13 | g.20188920T>G | CA387460692 | GJB2 | c.662A>C (p.Lys221Thr) | |
13 | g.20188921T>A | CA387460695 | GJB2 | c.661A>T (p.Lys221Ter) | |
13 | g.20188921T>C | CA387460696 | GJB2 | c.661A>G (p.Lys221Glu) | gnomAD v4 |
13 | g.20188921T>G | CA387460697 | GJB2 | c.661A>C (p.Lys221Gln) | |
13 | g.20188922C>A | CA483154224 | GJB2 | c.660G>T (p.Gly220=) | |
13 | g.20188922C= | CA2077138618 | GJB2 | c.660G= (p.Gly220=) | |
13 | g.20188922C>G | CA483154223 | GJB2 | c.660G>C (p.Gly220=) | |
13 | g.20188922C>T | CA483154221 | GJB2 | c.660G>A (p.Gly220=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188923C>A | CA387460698 | GJB2 | c.659G>T (p.Gly220Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188923C= | CA2077138620 | GJB2 | c.659G= (p.Gly220=) | |
13 | g.20188923C>G | CA387460699 | GJB2 | c.659G>C (p.Gly220Ala) | |
13 | g.20188923C>T | CA387460700 | GJB2 | c.659G>A (p.Gly220Glu) | dbSNP gnomAD v4 |
13 | g.20188924C>A | CA387460701 | GJB2 | c.658G>T (p.Gly220Trp) | |
13 | g.20188924C>G | CA387460702 | GJB2 | c.658G>C (p.Gly220Arg) | |
13 | g.20188924C>T | CA387460703 | GJB2 | c.658G>A (p.Gly220Arg) | |
13 | g.20188925A>C | CA483154226 | GJB2 | c.657T>G (p.Ser219=) | gnomAD v4 |
13 | g.20188925A>G | CA483154228 | GJB2 | c.657T>C (p.Ser219=) | |
13 | g.20188925A>T | CA483154230 | GJB2 | c.657T>A (p.Ser219=) | |
13 | g.20188926G>A | CA6904215 | GJB2 | c.656C>T (p.Ser219Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188926G>C | CA387460704 | GJB2 | c.656C>G (p.Ser219Cys) | |
13 | g.20188926G= | CA2077138623 | GJB2 | c.656C= (p.Ser219=) | |
13 | g.20188926G>T | CA387460705 | GJB2 | c.656C>A (p.Ser219Tyr) | |
13 | g.20188927A>C | CA387460707 | GJB2 | c.655T>G (p.Ser219Ala) | |
13 | g.20188927A>G | CA387460708 | GJB2 | c.655T>C (p.Ser219Pro) | |
13 | g.20188927A>T | CA387460706 | GJB2 | c.655T>A (p.Ser219Thr) | gnomAD v4 |
13 | g.20188928A>C | CA387460709 | GJB2 | c.654T>G (p.Cys218Trp) | |
13 | g.20188928A>G | CA483154232 | GJB2 | c.654T>C (p.Cys218=) | |
13 | g.20188928A>T | CA387460710 | GJB2 | c.654T>A (p.Cys218Ter) | |
13 | g.20188929C>A | CA387460711 | GJB2 | c.653G>T (p.Cys218Phe) | |
13 | g.20188929C= | CA2077138627 | GJB2 | c.653G= (p.Cys218=) |