Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189036C>A | CA483153850 | GJB2 | c.546G>T (p.Val182=) | ClinVar |
13 | g.20189036C= | CA2077138912 | GJB2 | c.546G= (p.Val182=) | |
13 | g.20189036C>G | CA483153851 | GJB2 | c.546G>C (p.Val182=) | |
13 | g.20189036C>T | CA6904240 | GJB2 | c.546G>A (p.Val182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189037A>C | CA387460924 | GJB2 | c.545T>G (p.Val182Gly) | |
13 | g.20189037A>G | CA387460925 | GJB2 | c.545T>C (p.Val182Ala) | |
13 | g.20189037A>T | CA387460926 | GJB2 | c.545T>A (p.Val182Glu) | |
13 | g.20189038C>A | CA387460927 | GJB2 | c.544G>T (p.Val182Leu) | |
13 | g.20189038C>G | CA387460928 | GJB2 | c.544G>C (p.Val182Leu) | |
13 | g.20189038C>T | CA387460929 | GJB2 | c.544G>A (p.Val182Met) | |
13 | g.20189039A= | CA2077138917 | GJB2 | c.543T= (p.Phe181=) | |
13 | g.20189039A>C | CA387460930 | GJB2 | c.543T>G (p.Phe181Leu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189039A>G | CA483153856 | GJB2 | c.543T>C (p.Phe181=) | |
13 | g.20189039A>T | CA387460931 | GJB2 | c.543T>A (p.Phe181Leu) | |
13 | g.20189040A>C | CA387460932 | GJB2 | c.542T>G (p.Phe181Cys) | |
13 | g.20189040A>G | CA387460934 | GJB2 | c.542T>C (p.Phe181Ser) | |
13 | g.20189040A>T | CA387460933 | GJB2 | c.542T>A (p.Phe181Tyr) | |
13 | g.20189041A= | CA2077138919 | GJB2 | c.541T= (p.Phe181=) | |
13 | g.20189041A>C | CA387460935 | GJB2 | c.541T>G (p.Phe181Val) | |
13 | g.20189041A>G | CA387460937 | GJB2 | c.541T>C (p.Phe181Leu) | |
13 | g.20189041A>T | CA387460936 | GJB2 | c.541T>A (p.Phe181Ile) | dbSNP |
13 | g.20189042G>A | CA483153857 | GJB2 | c.540C>T (p.Cys180=) | gnomAD v4 |
13 | g.20189042G>C | CA387460938 | GJB2 | c.540C>G (p.Cys180Trp) | |
13 | g.20189042G>T | CA387460939 | GJB2 | c.540C>A (p.Cys180Ter) | |
13 | g.20189043C>A | CA387460940 | GJB2 | c.539G>T (p.Cys180Phe) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189043C= | CA2077138922 | GJB2 | c.539G= (p.Cys180=) | |
13 | g.20189043C>G | CA387460942 | GJB2 | c.539G>C (p.Cys180Ser) | |
13 | g.20189043C>T | CA387460941 | GJB2 | c.539G>A (p.Cys180Tyr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189044A>C | CA387460943 | GJB2 | c.538T>G (p.Cys180Gly) | |
13 | g.20189044A>G | CA387460945 | GJB2 | c.538T>C (p.Cys180Arg) | |
13 | g.20189044A>T | CA387460944 | GJB2 | c.538T>A (p.Cys180Ser) | |
13 | g.20189045G>A | CA6904241 | GJB2 | c.537C>T (p.Asp179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189045G>C | CA387460946 | GJB2 | c.537C>G (p.Asp179Glu) | |
13 | g.20189045G= | CA2077138927 | GJB2 | c.537C= (p.Asp179=) | |
13 | g.20189045G>T | CA387460947 | GJB2 | c.537C>A (p.Asp179Glu) | |
13 | g.20189046T>A | CA387460948 | GJB2 | c.536A>T (p.Asp179Val) | |
13 | g.20189046T>C | CA387460949 | GJB2 | c.536A>G (p.Asp179Gly) | |
13 | g.20189046T>G | CA387460950 | GJB2 | c.536A>C (p.Asp179Ala) | |
13 | g.20189047C>A | CA6904242 | GJB2 | c.535G>T (p.Asp179Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189047C= | CA2077138930 | GJB2 | c.535G= (p.Asp179=) | |
13 | g.20189047C>G | CA387460951 | GJB2 | c.535G>C (p.Asp179His) | ClinVar dbSNP gnomAD v4 |
13 | g.20189047C>T | CA257681 | GJB2 | c.535G>A (p.Asp179Asn) | ClinVar dbSNP |
13 | g.20189048del | CA2622252279 | GJB2 | c.535del (p.Asp179ThrfsTer17) | gnomAD v4 |
13 | g.20189048C>A | CA483153862 | GJB2 | c.534G>T (p.Val178=) | |
13 | g.20189048C= | CA2077138936 | GJB2 | c.534G= (p.Val178=) | |
13 | g.20189048C>G | CA483153863 | GJB2 | c.534G>C (p.Val178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189048C>T | CA483153864 | GJB2 | c.534G>A (p.Val178=) | |
13 | g.20189048_20189059delinsCACAGTGTTGGG | CA2077138937 | GJB2 | c.523_534delinsCCCAACACTGTG (p.Pro175=) | |
13 | g.20189049A= | CA2077138941 | GJB2 | c.533T= (p.Val178=) | |
13 | g.20189049A>C | CA387460953 | GJB2 | c.533T>G (p.Val178Gly) |