| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 8 | g.6877844T>A | CA370230945 | DEFB1 | c.14A>T (p.Tyr5Phe) | |
| 8 | g.6877844T>C | CA370230942 | DEFB1 | c.14A>G (p.Tyr5Cys) | COSMIC |
| 8 | g.6877844T>G | CA370230944 | DEFB1 | c.14A>C (p.Tyr5Ser) | |
| 8 | g.6877845A= | CA1761188626 | DEFB1 | c.13T= (p.Tyr5=) | |
| 8 | g.6877845A>C | CA370230947 | DEFB1 | c.13T>G (p.Tyr5Asp) | |
| 8 | g.6877845A>G | CA370230949 | DEFB1 | c.13T>C (p.Tyr5His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877845A>T | CA370230951 | DEFB1 | c.13T>A (p.Tyr5Asn) | gnomAD v4 |
| 8 | g.6877846G>A | CA4612888 | DEFB1 | c.12C>T (p.Ser4=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877846G>C | CA459186535 | DEFB1 | c.12C>G (p.Ser4=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877846G= | CA1761188627 | DEFB1 | c.12C= (p.Ser4=) | |
| 8 | g.6877846G>T | CA459186540 | DEFB1 | c.12C>A (p.Ser4=) | |
| 8 | g.6877847G>A | CA370230954 | DEFB1 | c.11C>T (p.Ser4Phe) | gnomAD v4 |
| 8 | g.6877847G>C | CA370230955 | DEFB1 | c.11C>G (p.Ser4Cys) | |
| 8 | g.6877847G>T | CA370230957 | DEFB1 | c.11C>A (p.Ser4Tyr) | |
| 8 | g.6877848A>C | CA370230959 | DEFB1 | c.10T>G (p.Ser4Ala) | |
| 8 | g.6877848A>G | CA370230961 | DEFB1 | c.10T>C (p.Ser4Pro) | |
| 8 | g.6877848A>T | CA370230962 | DEFB1 | c.10T>A (p.Ser4Thr) | |
| 8 | g.6877849A= | CA1761188628 | DEFB1 | c.9T= (p.Thr3=) | |
| 8 | g.6877849A>C | CA459186559 | DEFB1 | c.9T>G (p.Thr3=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877849A>G | CA459186566 | DEFB1 | c.9T>C (p.Thr3=) | gnomAD v4 |
| 8 | g.6877849A>T | CA459186563 | DEFB1 | c.9T>A (p.Thr3=) | |
| 8 | g.6877850G>A | CA4612889 | DEFB1 | c.8C>T (p.Thr3Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877850G>C | CA370230964 | DEFB1 | c.8C>G (p.Thr3Ser) | |
| 8 | g.6877850G= | CA1761188629 | DEFB1 | c.8C= (p.Thr3=) | |
| 8 | g.6877850G>T | CA370230966 | DEFB1 | c.8C>A (p.Thr3Asn) | COSMIC |
| 8 | g.6877851T>A | CA370230968 | DEFB1 | c.7A>T (p.Thr3Ser) | |
| 8 | g.6877851T>C | CA370230970 | DEFB1 | c.7A>G (p.Thr3Ala) | |
| 8 | g.6877851T>G | CA370230969 | DEFB1 | c.7A>C (p.Thr3Pro) |