| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6877830T>A | CA370230903 | DEFB1 | c.28A>T (p.Thr10Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877830T>C | CA370230906 | DEFB1 | c.28A>G (p.Thr10Ala) | gnomAD v4 |
| 8 | g.6877830T>G | CA171486222 | DEFB1 | c.28A>C (p.Thr10Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877830T= | CA1761188618 | DEFB1 | c.28A= (p.Thr10=) | |
| 8 | g.6877831A>C | CA370230908 | DEFB1 | c.27T>G (p.Phe9Leu) | |
| 8 | g.6877831A>G | CA459186393 | DEFB1 | c.27T>C (p.Phe9=) | |
| 8 | g.6877831A>T | CA370230909 | DEFB1 | c.27T>A (p.Phe9Leu) | |
| 8 | g.6877832A>C | CA370230910 | DEFB1 | c.26T>G (p.Phe9Cys) | gnomAD v4 |
| 8 | g.6877832A>G | CA370230912 | DEFB1 | c.26T>C (p.Phe9Ser) | |
| 8 | g.6877832A>T | CA370230914 | DEFB1 | c.26T>A (p.Phe9Tyr) | |
| 8 | g.6877833A>C | CA370230917 | DEFB1 | c.25T>G (p.Phe9Val) | |
| 8 | g.6877833A>G | CA370230918 | DEFB1 | c.25T>C (p.Phe9Leu) | |
| 8 | g.6877833A>T | CA370230916 | DEFB1 | c.25T>A (p.Phe9Ile) | |
| 8 | g.6877834C>A | CA459186424 | DEFB1 | c.24G>T (p.Leu8=) | |
| 8 | g.6877834C= | CA1761188619 | DEFB1 | c.24G= (p.Leu8=) | |
| 8 | g.6877834C>G | CA459186428 | DEFB1 | c.24G>C (p.Leu8=) | gnomAD v4 |
| 8 | g.6877834C>T | CA459186432 | DEFB1 | c.24G>A (p.Leu8=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877835A>C | CA370230922 | DEFB1 | c.23T>G (p.Leu8Arg) | |
| 8 | g.6877835A>G | CA370230920 | DEFB1 | c.23T>C (p.Leu8Pro) | |
| 8 | g.6877835A>T | CA370230923 | DEFB1 | c.23T>A (p.Leu8Gln) | |
| 8 | g.6877836G>A | CA459186445 | DEFB1 | c.22C>T (p.Leu8=) | |
| 8 | g.6877836G>C | CA370230924 | DEFB1 | c.22C>G (p.Leu8Val) | dbSNP |
| 8 | g.6877836G= | CA1761188620 | DEFB1 | c.22C= (p.Leu8=) | |
| 8 | g.6877836G>T | CA370230925 | DEFB1 | c.22C>A (p.Leu8Met) | |
| 8 | g.6877837C>A | CA459186455 | DEFB1 | c.21G>T (p.Leu7=) | |
| 8 | g.6877837C= | CA1761188621 | DEFB1 | c.21G= (p.Leu7=) | |
| 8 | g.6877837C>G | CA459186458 | DEFB1 | c.21G>C (p.Leu7=) | |
| 8 | g.6877837C>T | CA459186461 | DEFB1 | c.21G>A (p.Leu7=) | dbSNP gnomAD v4 |
| 8 | g.6877838A= | CA1761188622 | DEFB1 | c.20T= (p.Leu7=) | |
| 8 | g.6877838A>C | CA370230926 | DEFB1 | c.20T>G (p.Leu7Arg) | |
| 8 | g.6877838A>G | CA4612883 | DEFB1 | c.20T>C (p.Leu7Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877838A>T | CA370230928 | DEFB1 | c.20T>A (p.Leu7Gln) | |
| 8 | g.6877839G>A | CA459186468 | DEFB1 | c.19C>T (p.Leu7=) | dbSNP |
| 8 | g.6877839G>C | CA370230930 | DEFB1 | c.19C>G (p.Leu7Val) | gnomAD v4 |
| 8 | g.6877839G= | CA1761188623 | DEFB1 | c.19C= (p.Leu7=) | |
| 8 | g.6877839G>T | CA370230931 | DEFB1 | c.19C>A (p.Leu7Met) | gnomAD v4 |
| 8 | g.6877840A>C | CA459186479 | DEFB1 | c.18T>G (p.Leu6=) | |
| 8 | g.6877840A>G | CA459186481 | DEFB1 | c.18T>C (p.Leu6=) | gnomAD v4 |
| 8 | g.6877840A>T | CA459186483 | DEFB1 | c.18T>A (p.Leu6=) | |
| 8 | g.6877841A>C | CA370230935 | DEFB1 | c.17T>G (p.Leu6Arg) | |
| 8 | g.6877841A>G | CA370230933 | DEFB1 | c.17T>C (p.Leu6Pro) | |
| 8 | g.6877841A>T | CA370230932 | DEFB1 | c.17T>A (p.Leu6His) | |
| 8 | g.6877842G>A | CA4612885 | DEFB1 | c.16C>T (p.Leu6Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877842G>C | CA4612884 | DEFB1 | c.16C>G (p.Leu6Val) | dbSNP ExAC gnomAD v2 |
| 8 | g.6877842G= | CA1761188624 | DEFB1 | c.16C= (p.Leu6=) | |
| 8 | g.6877842G>T | CA370230937 | DEFB1 | c.16C>A (p.Leu6Ile) | gnomAD v4 |
| 8 | g.6877843G>A | CA4612886 | DEFB1 | c.15C>T (p.Tyr5=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877843G>C | CA4612887 | DEFB1 | c.15C>G (p.Tyr5Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877843G= | CA1761188625 | DEFB1 | c.15C= (p.Tyr5=) | |
| 8 | g.6877843G>T | CA370230939 | DEFB1 | c.15C>A (p.Tyr5Ter) | gnomAD v4 |