Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224109del | CA2695234564 | GJB1 | c.402del (p.Tyr135MetfsTer?) | |
X | g.71224109C>A | CA516820902 | GJB1 | c.402C>A (p.Thr134=) | gnomAD v4 |
X | g.71224109C= | CA2436388350 | GJB1 | c.402C= (p.Thr134=) | |
X | g.71224109C>G | CA516820903 | GJB1 | c.402C>G (p.Thr134=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224109C>T | CA516820904 | GJB1 | c.402C>T (p.Thr134=) | |
X | g.71224110T>A | CA413502220 | GJB1 | c.403T>A (p.Tyr135Asn) | |
X | g.71224110T>C | CA413502223 | GJB1 | c.403T>C (p.Tyr135His) | |
X | g.71224110T>G | CA413502226 | GJB1 | c.403T>G (p.Tyr135Asp) | |
X | g.71224110dup | CA2695234566 | GJB1 | c.403dup (p.Tyr135LeufsTer12) | |
X | g.71224111_71224112del | CA2695234565 | GJB1 | c.404_405del (p.Tyr135CysfsTer11) | |
X | g.71224111A= | CA2436388351 | GJB1 | c.404A= (p.Tyr135=) | |
X | g.71224111A>C | CA413502233 | GJB1 | c.404A>C (p.Tyr135Ser) | |
X | g.71224111A>G | CA413502229 | GJB1 | c.404A>G (p.Tyr135Cys) | ClinVar dbSNP |
X | g.71224111A>T | CA413502231 | GJB1 | c.404A>T (p.Tyr135Phe) | |
X | g.71224112T>A | CA413502237 | GJB1 | c.405T>A (p.Tyr135Ter) | |
X | g.71224112T>C | CA516820905 | GJB1 | c.405T>C (p.Tyr135=) | ClinVar |
X | g.71224112T>G | CA413502239 | GJB1 | c.405T>G (p.Tyr135Ter) | |
X | g.71224113_71224114dup | CA2580612285 | GJB1 | c.406_407dup (p.Ile137SerfsTer?) | ClinVar |
X | g.71224113G>A | CA413502242 | GJB1 | c.406G>A (p.Val136Ile) | |
X | g.71224113G>C | CA413502245 | GJB1 | c.406G>C (p.Val136Leu) | |
X | g.71224113G>T | CA413502247 | GJB1 | c.406G>T (p.Val136Phe) | COSMIC |
X | g.71224114T>A | CA413502249 | GJB1 | c.407T>A (p.Val136Asp) | |
X | g.71224114T>C | CA121071 | GJB1 | c.407T>C (p.Val136Ala) | ClinVar dbSNP |
X | g.71224114T>G | CA413502257 | GJB1 | c.407T>G (p.Val136Gly) | |
X | g.71224114T= | CA2436388352 | GJB1 | c.407T= (p.Val136=) | |
X | g.71224115C>A | CA516820906 | GJB1 | c.408C>A (p.Val136=) | |
X | g.71224115C>G | CA516820907 | GJB1 | c.408C>G (p.Val136=) | |
X | g.71224115C>T | CA516820908 | GJB1 | c.408C>T (p.Val136=) | gnomAD v4 |
X | g.71224116A>C | CA413502260 | GJB1 | c.409A>C (p.Ile137Leu) | |
X | g.71224116A>G | CA413502262 | GJB1 | c.409A>G (p.Ile137Val) | ClinVar |
X | g.71224116A>T | CA413502268 | GJB1 | c.409A>T (p.Ile137Phe) | |
X | g.71224116_71224117delinsAT | CA2436388353 | GJB1 | c.409_410delinsAT (p.Ile137=) | |
X | g.71224117del | CA915951198 | GJB1 | c.410del (p.Ile137ThrfsTer?) | ClinVar dbSNP |
X | g.71224117T>A | CA413502277 | GJB1 | c.410T>A (p.Ile137Asn) | |
X | g.71224117T>C | CA413502279 | GJB1 | c.410T>C (p.Ile137Thr) | |
X | g.71224117T>G | CA413502276 | GJB1 | c.410T>G (p.Ile137Ser) | |
X | g.71224118C>A | CA516820909 | GJB1 | c.411C>A (p.Ile137=) | |
X | g.71224118C>G | CA413502282 | GJB1 | c.411C>G (p.Ile137Met) | |
X | g.71224118C>T | CA516820910 | GJB1 | c.411C>T (p.Ile137=) | |
X | g.71224119A>C | CA413502284 | GJB1 | c.412A>C (p.Ser138Arg) | |
X | g.71224119A>G | CA413502285 | GJB1 | c.412A>G (p.Ser138Gly) | ClinVar |
X | g.71224119A>T | CA413502288 | GJB1 | c.412A>T (p.Ser138Cys) | |
X | g.71224120G>A | CA413502291 | GJB1 | c.413G>A (p.Ser138Asn) | ClinVar dbSNP |
X | g.71224120G>C | CA413502293 | GJB1 | c.413G>C (p.Ser138Thr) | ClinVar |
X | g.71224120G= | CA2436388354 | GJB1 | c.413G= (p.Ser138=) | |
X | g.71224120G>T | CA413502294 | GJB1 | c.413G>T (p.Ser138Ile) | dbSNP |
X | g.71224121C>A | CA413502297 | GJB1 | c.414C>A (p.Ser138Arg) | |
X | g.71224121C= | CA2436388355 | GJB1 | c.414C= (p.Ser138=) | |
X | g.71224121C>G | CA413502296 | GJB1 | c.414C>G (p.Ser138Arg) | |
X | g.71224121C>T | CA516820911 | GJB1 | c.414C>T (p.Ser138=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |