Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20188910_20188914del | CA912980092 | GJB2 | c.668_672del (p.Lys223ThrfsTer?) | |
13 | g.20188910_20188914delinsCTTTT | CA2077138596 | GJB2 | c.668_672delinsAAAAG (p.Lys223=) | |
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.20188912T>A | CA387460677 | GJB2 | c.670A>T (p.Lys224Ter) | gnomAD v4 |
13 | g.20188912T>C | CA387460678 | GJB2 | c.670A>G (p.Lys224Glu) | |
13 | g.20188912T>G | CA134995 | GJB2 | c.670A>C (p.Lys224Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188912T= | CA2077138603 | GJB2 | c.670A= (p.Lys224=) | |
13 | g.20188913T>A | CA387460679 | GJB2 | c.669A>T (p.Lys223Asn) | |
13 | g.20188913T>C | CA483154212 | GJB2 | c.669A>G (p.Lys223=) | |
13 | g.20188913T>G | CA387460680 | GJB2 | c.669A>C (p.Lys223Asn) | |
13 | g.20188914T>A | CA387460681 | GJB2 | c.668A>T (p.Lys223Ile) | |
13 | g.20188914T>C | CA387460683 | GJB2 | c.668A>G (p.Lys223Arg) | |
13 | g.20188914T>G | CA387460682 | GJB2 | c.668A>C (p.Lys223Thr) | |
13 | g.20188915T>A | CA387460684 | GJB2 | c.667A>T (p.Lys223Ter) | |
13 | g.20188915T>C | CA387460685 | GJB2 | c.667A>G (p.Lys223Glu) | |
13 | g.20188915T>G | CA387460686 | GJB2 | c.667A>C (p.Lys223Gln) | |
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) |