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.20189099_20189103dup | CA608984148 | GJB2 | c.479_483dup (p.Ser162AlafsTer8) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189103C>A | CA387461059 | GJB2 | c.479G>T (p.Gly160Val) | |
13 | g.20189103C= | CA2077139095 | GJB2 | c.479G= (p.Gly160=) | |
13 | g.20189103C>G | CA387461060 | GJB2 | c.479G>C (p.Gly160Ala) | |
13 | g.20189103C>T | CA246460068 | GJB2 | c.479G>A (p.Gly160Asp) | dbSNP gnomAD v4 |
13 | g.20189104C>A | CA387461061 | GJB2 | c.478G>T (p.Gly160Cys) | |
13 | g.20189104C= | CA2077139101 | GJB2 | c.478G= (p.Gly160=) | |
13 | g.20189104C>G | CA387461062 | GJB2 | c.478G>C (p.Gly160Arg) | |
13 | g.20189104C>T | CA134977 | GJB2 | c.478G>A (p.Gly160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189105_20189106insGCG | CA2622252282 | GJB2 | c.478_479insCCG (p.Asp159_Gly160insAla) | gnomAD v4 |
13 | g.20189105G>A | CA246460077 | GJB2 | c.477C>T (p.Asp159=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189105G>C | CA387461063 | GJB2 | c.477C>G (p.Asp159Glu) | |
13 | g.20189105G= | CA2077139105 | GJB2 | c.477C= (p.Asp159=) | |
13 | g.20189105G>T | CA387461064 | GJB2 | c.477C>A (p.Asp159Glu) | |
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=) |