Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20223467G>A | CA267609 | GJB6 | c.14C>T (p.Thr5Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20223467G>C | CA387469032 | GJB6 | c.14C>G (p.Thr5Arg) | |
13 | g.20223467G= | CA2077160650 | GJB6 | c.14C= (p.Thr5=) | |
13 | g.20223467G>T | CA387469033 | GJB6 | c.14C>A (p.Thr5Lys) | |
13 | g.20223468T>A | CA387469036 | GJB6 | c.13A>T (p.Thr5Ser) | gnomAD v4 |
13 | g.20223468T>C | CA387469034 | GJB6 | c.13A>G (p.Thr5Ala) | |
13 | g.20223468T>G | CA387469035 | GJB6 | c.13A>C (p.Thr5Pro) | |
13 | g.20223469C>A | CA483154665 | GJB6 | c.12G>T (p.Gly4=) | COSMIC |
13 | g.20223469C= | CA2077160653 | GJB6 | c.12G= (p.Gly4=) | |
13 | g.20223469C>G | CA483154664 | GJB6 | c.12G>C (p.Gly4=) | |
13 | g.20223469C>T | CA483154662 | GJB6 | c.12G>A (p.Gly4=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223470C>A | CA387469037 | GJB6 | c.11G>T (p.Gly4Val) | |
13 | g.20223470C>G | CA387469038 | GJB6 | c.11G>C (p.Gly4Ala) | |
13 | g.20223470C>T | CA387469039 | GJB6 | c.11G>A (p.Gly4Glu) | |
13 | g.20223471C>A | CA387469040 | GJB6 | c.10G>T (p.Gly4Trp) | |
13 | g.20223471C>G | CA387469041 | GJB6 | c.10G>C (p.Gly4Arg) | |
13 | g.20223471C>T | CA387469042 | GJB6 | c.10G>A (p.Gly4Arg) | gnomAD v4 |
13 | g.20223472C>A | CA387469045 | GJB6 | c.9G>T (p.Trp3Cys) | |
13 | g.20223472C>G | CA387469044 | GJB6 | c.9G>C (p.Trp3Cys) | |
13 | g.20223472C>T | CA387469043 | GJB6 | c.9G>A (p.Trp3Ter) | gnomAD v4 |
13 | g.20223473C>A | CA387469046 | GJB6 | c.8G>T (p.Trp3Leu) | |
13 | g.20223473C>G | CA387469047 | GJB6 | c.8G>C (p.Trp3Ser) | |
13 | g.20223473C>T | CA387469048 | GJB6 | c.8G>A (p.Trp3Ter) | |
13 | g.20223474A>C | CA387469049 | GJB6 | c.7T>G (p.Trp3Gly) | |
13 | g.20223474A>G | CA387469050 | GJB6 | c.7T>C (p.Trp3Arg) | |
13 | g.20223474A>T | CA387469051 | GJB6 | c.7T>A (p.Trp3Arg) | |
13 | g.20223474_20223475insGGGCTCCTCTTTGTGATCTGAGAAGCAATAGCAACATTTAGTTAGGTCTTTTACTAGTTTAATACAATTATTTGTCTAAAAAAGGATAGGAATAATACTTTGATATGTAGT | CA2622252492 | GJB6 | c.6_7insACTACATATCAAAGTATTATTCCTATCCTTTTTTAGACAAATAATTGTATTAAACTAGTAAAAGACCTAACTAAATGTTGCTATTGCTTCTCAGATCACAAAGAGGAGCCC | gnomAD v4 |
13 | g.20223475A= | CA2077160659 | GJB6 | c.6T= (p.Asp2=) | |
13 | g.20223475A>C | CA387469052 | GJB6 | c.6T>G (p.Asp2Glu) | |
13 | g.20223475A>G | CA6904529 | GJB6 | c.6T>C (p.Asp2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223475A>T | CA387469053 | GJB6 | c.6T>A (p.Asp2Glu) | |
13 | g.20223476T>A | CA387469054 | GJB6 | c.5A>T (p.Asp2Val) | |
13 | g.20223476T>C | CA387469055 | GJB6 | c.5A>G (p.Asp2Gly) | |
13 | g.20223476T>G | CA387469056 | GJB6 | c.5A>C (p.Asp2Ala) | gnomAD v4 |
13 | g.20223477C>A | CA387469057 | GJB6 | c.4G>T (p.Asp2Tyr) | |
13 | g.20223477C>G | CA387469058 | GJB6 | c.4G>C (p.Asp2His) | |
13 | g.20223477C>T | CA387469059 | GJB6 | c.4G>A (p.Asp2Asn) | COSMIC |
13 | g.20223478C>A | CA387469060 | GJB6 | c.3G>T (p.Met1Ile) | |
13 | g.20223478C= | CA2077160663 | GJB6 | c.3G= (p.Met1=) | |
13 | g.20223478C>G | CA387469061 | GJB6 | c.3G>C (p.Met1Ile) | |
13 | g.20223478C>T | CA387469062 | GJB6 | c.3G>A (p.Met1Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.20223479A>C | CA387469063 | GJB6 | c.2T>G (p.Met1Arg) | |
13 | g.20223479A>G | CA387469064 | GJB6 | c.2T>C (p.Met1Thr) | |
13 | g.20223479A>T | CA387469065 | GJB6 | c.2T>A (p.Met1Lys) | gnomAD v4 |
13 | g.20223480T>A | CA387469066 | GJB6 | c.1A>T (p.Met1Leu) | gnomAD v4 |
13 | g.20223480T>C | CA6904530 | GJB6 | c.1A>G (p.Met1Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20223480T>G | CA387469067 | GJB6 | c.1A>C (p.Met1Leu) | |
13 | g.20223480T= | CA2077160671 | GJB6 | c.1A= (p.Met1=) | |
13 | g.20223482G>A | CA2575364838 | GJB6 | c.-2C>T (n.-2C>T) | gnomAD v4 |
13 | g.20223482G= | CA2077160675 | GJB6 | c.-2C= (n.-2C=) |