| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20188908G>A | CA387460667 | GJB2 | c.674C>T (p.Pro225Leu) | ClinVar dbSNP |
| 13 | g.20188908G>C | CA387460668 | GJB2 | c.674C>G (p.Pro225Arg) | |
| 13 | g.20188908G= | CA2077138588 | GJB2 | c.674C= (p.Pro225=) | |
| 13 | g.20188908G>T | CA387460666 | GJB2 | c.674C>A (p.Pro225Gln) | |
| 13 | g.20188909G>A | CA387460671 | GJB2 | c.673C>T (p.Pro225Ser) | COSMIC |
| 13 | g.20188909G>C | CA387460669 | GJB2 | c.673C>G (p.Pro225Ala) | |
| 13 | g.20188909G>T | CA387460670 | GJB2 | c.673C>A (p.Pro225Thr) | |
| 13 | g.20188910C>A | CA387460672 | GJB2 | c.672G>T (p.Lys224Asn) | |
| 13 | g.20188910C= | CA2077138594 | GJB2 | c.672G= (p.Lys224=) | |
| 13 | g.20188910C>G | CA387460673 | GJB2 | c.672G>C (p.Lys224Asn) | |
| 13 | g.20188910C>T | CA6904212 | GJB2 | c.672G>A (p.Lys224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20188910_20188914del | CA912980092 | GJB2 | c.668_672del (p.Lys223ThrfsTer?) | |
| 13 | g.20188910_20188914delinsCTTTT | CA2077138596 | GJB2 | c.668_672delinsAAAAG (p.Lys223=) | |
| 13 | g.20188911T>A | CA387460674 | GJB2 | c.671A>T (p.Lys224Met) | |
| 13 | g.20188911T>C | CA387460675 | GJB2 | c.671A>G (p.Lys224Arg) | |
| 13 | g.20188911T>G | CA387460676 | GJB2 | c.671A>C (p.Lys224Thr) | |
| 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.20188911_20188912insA | CA483154211 | GJB2 | c.670_671insT (p.Lys224IlefsTer?) | |
| 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) |