| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189095_20189137del | CA912980093 | GJB2 | c.445_487del (p.Ala149CysfsTer5) | |
| 13 | g.20189095_20189137delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC | CA2077139077 | GJB2 | c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA (p.Ala149=) | |
| 13 | g.20189098_20189139del | CA658823446 | GJB2 | c.445_486del (p.Ala149_Ser162del) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189106T>A | CA257680 | GJB2 | c.476A>T (p.Asp159Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189106T>C | CA387461066 | GJB2 | c.476A>G (p.Asp159Gly) | |
| 13 | g.20189106T>G | CA387461065 | GJB2 | c.476A>C (p.Asp159Ala) | |
| 13 | g.20189106T= | CA2077139110 | GJB2 | c.476A= (p.Asp159=) | |
| 13 | g.20189107C>A | CA6904260 | GJB2 | c.475G>T (p.Asp159Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20189107C= | CA2077139117 | GJB2 | c.475G= (p.Asp159=) | |
| 13 | g.20189107C>G | CA387461067 | GJB2 | c.475G>C (p.Asp159His) | |
| 13 | g.20189107C>T | CA6904259 | GJB2 | c.475G>A (p.Asp159Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189116_20189133dup | CA2077139122 | GJB2 | c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr) | ClinVar dbSNP |
| 13 | g.20189108G>A | CA6904261 | GJB2 | c.474C>T (p.Tyr158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189108G>C | CA387461068 | GJB2 | c.474C>G (p.Tyr158Ter) | ClinVar dbSNP |
| 13 | g.20189108G= | CA2077139129 | GJB2 | c.474C= (p.Tyr158=) | |
| 13 | g.20189108G>T | CA387461069 | GJB2 | c.474C>A (p.Tyr158Ter) | |
| 13 | g.20189109T>A | CA387461070 | GJB2 | c.473A>T (p.Tyr158Phe) | |
| 13 | g.20189109T>C | CA387461071 | GJB2 | c.473A>G (p.Tyr158Cys) | |
| 13 | g.20189109T>G | CA387461072 | GJB2 | c.473A>C (p.Tyr158Ser) | |
| 13 | g.20189110A>C | CA387461073 | GJB2 | c.472T>G (p.Tyr158Asp) | |
| 13 | g.20189110A>G | CA387461074 | GJB2 | c.472T>C (p.Tyr158His) | |
| 13 | g.20189110A>T | CA387461075 | GJB2 | c.472T>A (p.Tyr158Asn) | |
| 13 | g.20189111C>A | CA387461077 | GJB2 | c.471G>T (p.Met157Ile) | |
| 13 | g.20189111C= | CA2077139136 | GJB2 | c.471G= (p.Met157=) | |
| 13 | g.20189111C>G | CA387461076 | GJB2 | c.471G>C (p.Met157Ile) | gnomAD v4 |
| 13 | g.20189111C>T | CA6904262 | GJB2 | c.471G>A (p.Met157Ile) | dbSNP ExAC gnomAD v2 |
| 13 | g.20189112A= | CA2077139141 | GJB2 | c.470T= (p.Met157=) | |
| 13 | g.20189112A>C | CA387461078 | GJB2 | c.470T>G (p.Met157Arg) | |
| 13 | g.20189112A>G | CA184190 | GJB2 | c.470T>C (p.Met157Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189112A>T | CA387461079 | GJB2 | c.470T>A (p.Met157Lys) | |
| 13 | g.20189113T>A | CA387461080 | GJB2 | c.469A>T (p.Met157Leu) | |
| 13 | g.20189113T>C | CA387461081 | GJB2 | c.469A>G (p.Met157Val) | |
| 13 | g.20189113T>G | CA387461082 | GJB2 | c.469A>C (p.Met157Leu) | |
| 13 | g.20189114G>A | CA483153942 | GJB2 | c.468C>T (p.Val156=) | ClinVar dbSNP |
| 13 | g.20189114G>C | CA483153943 | GJB2 | c.468C>G (p.Val156=) | |
| 13 | g.20189114G>T | CA483153944 | GJB2 | c.468C>A (p.Val156=) | |
| 13 | g.20189115A>C | CA387461083 | GJB2 | c.467T>G (p.Val156Gly) | gnomAD v4 |
| 13 | g.20189115A>G | CA387461084 | GJB2 | c.467T>C (p.Val156Ala) | |
| 13 | g.20189115A>T | CA387461085 | GJB2 | c.467T>A (p.Val156Asp) | |
| 13 | g.20189116C>A | CA387461086 | GJB2 | c.466G>T (p.Val156Phe) | |
| 13 | g.20189116C= | CA2077139146 | GJB2 | c.466G= (p.Val156=) | |
| 13 | g.20189116C>G | CA387461087 | GJB2 | c.466G>C (p.Val156Leu) | |
| 13 | g.20189116C>T | CA387461088 | GJB2 | c.466G>A (p.Val156Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189117A= | CA2077139152 | GJB2 | c.465T= (p.Tyr155=) | |
| 13 | g.20189117A>C | CA387461089 | GJB2 | c.465T>G (p.Tyr155Ter) | |
| 13 | g.20189117A>G | CA483153945 | GJB2 | c.465T>C (p.Tyr155=) | |
| 13 | g.20189117A>T | CA275075 | GJB2 | c.465T>A (p.Tyr155Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189118_20189119del | CA2695217663 | GJB2 | c.464_465del (p.Tyr155CysfsTer?) | |
| 13 | g.20189118T>A | CA387461090 | GJB2 | c.464A>T (p.Tyr155Phe) | |
| 13 | g.20189118T>C | CA6904263 | GJB2 | c.464A>G (p.Tyr155Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |