| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6877818G>A | CA370230861 | DEFB1 | c.40C>T (p.Leu14Phe) | |
| 8 | g.6877818G>C | CA370230862 | DEFB1 | c.40C>G (p.Leu14Val) | |
| 8 | g.6877818G>T | CA370230864 | DEFB1 | c.40C>A (p.Leu14Ile) | |
| 8 | g.6877819T>A | CA370230866 | DEFB1 | c.39A>T (p.Leu13Phe) | |
| 8 | g.6877819T>C | CA459186284 | DEFB1 | c.39A>G (p.Leu13=) | |
| 8 | g.6877819T>G | CA370230867 | DEFB1 | c.39A>C (p.Leu13Phe) | |
| 8 | g.6877820A>C | CA370230872 | DEFB1 | c.38T>G (p.Leu13Ter) | |
| 8 | g.6877820A>G | CA370230871 | DEFB1 | c.38T>C (p.Leu13Ser) | |
| 8 | g.6877820A>T | CA370230869 | DEFB1 | c.38T>A (p.Leu13Ter) | gnomAD v4 |
| 8 | g.6877821A>C | CA370230874 | DEFB1 | c.37T>G (p.Leu13Val) | |
| 8 | g.6877821A>G | CA459186295 | DEFB1 | c.37T>C (p.Leu13=) | |
| 8 | g.6877821A>T | CA370230876 | DEFB1 | c.37T>A (p.Leu13Ile) | |
| 8 | g.6877822G>A | CA4612878 | DEFB1 | c.36C>T (p.Cys12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877822G>C | CA370230878 | DEFB1 | c.36C>G (p.Cys12Trp) | |
| 8 | g.6877822G= | CA1761188610 | DEFB1 | c.36C= (p.Cys12=) | |
| 8 | g.6877822G>T | CA370230880 | DEFB1 | c.36C>A (p.Cys12Ter) | |
| 8 | g.6877823C>A | CA370230882 | DEFB1 | c.35G>T (p.Cys12Phe) | |
| 8 | g.6877823C= | CA1761188612 | DEFB1 | c.35G= (p.Cys12=) | |
| 8 | g.6877823C>G | CA370230884 | DEFB1 | c.35G>C (p.Cys12Ser) | |
| 8 | g.6877823C>T | CA4612879 | DEFB1 | c.35G>A (p.Cys12Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877823_6877824delinsCA | CA1761188611 | DEFB1 | c.34_35delinsTG (p.Cys12=) | |
| 8 | g.6877824del | CA4612880 | DEFB1 | c.34del (p.Cys12AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877824A>C | CA370230885 | DEFB1 | c.34T>G (p.Cys12Gly) | |
| 8 | g.6877824A>G | CA370230887 | DEFB1 | c.34T>C (p.Cys12Arg) | gnomAD v4 |
| 8 | g.6877824A>T | CA370230888 | DEFB1 | c.34T>A (p.Cys12Ser) | |
| 8 | g.6877825G>A | CA459186335 | DEFB1 | c.33C>T (p.Leu11=) | gnomAD v4 |
| 8 | g.6877825G>C | CA171486188 | DEFB1 | c.33C>G (p.Leu11=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.6877825G= | CA1761188613 | DEFB1 | c.33C= (p.Leu11=) | |
| 8 | g.6877825G>T | CA459186340 | DEFB1 | c.33C>A (p.Leu11=) | |
| 8 | g.6877826A= | CA1761188614 | DEFB1 | c.32T= (p.Leu11=) | |
| 8 | g.6877826A>C | CA370230893 | DEFB1 | c.32T>G (p.Leu11Arg) | |
| 8 | g.6877826A>G | CA370230894 | DEFB1 | c.32T>C (p.Leu11Pro) | dbSNP |
| 8 | g.6877826A>T | CA370230891 | DEFB1 | c.32T>A (p.Leu11His) | |
| 8 | g.6877827G>A | CA370230895 | DEFB1 | c.31C>T (p.Leu11Phe) | |
| 8 | g.6877827G>C | CA4612881 | DEFB1 | c.31C>G (p.Leu11Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877827G= | CA1761188615 | DEFB1 | c.31C= (p.Leu11=) | |
| 8 | g.6877827G>T | CA370230897 | DEFB1 | c.31C>A (p.Leu11Ile) | gnomAD v4 |
| 8 | g.6877828A= | CA1761188616 | DEFB1 | c.30T= (p.Thr10=) | |
| 8 | g.6877828A>C | CA459186361 | DEFB1 | c.30T>G (p.Thr10=) | |
| 8 | g.6877828A>G | CA459186364 | DEFB1 | c.30T>C (p.Thr10=) | dbSNP |
| 8 | g.6877828A>T | CA459186367 | DEFB1 | c.30T>A (p.Thr10=) | |
| 8 | g.6877829G>A | CA370230899 | DEFB1 | c.29C>T (p.Thr10Ile) | |
| 8 | g.6877829G>C | CA4612882 | DEFB1 | c.29C>G (p.Thr10Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877829G= | CA1761188617 | DEFB1 | c.29C= (p.Thr10=) | |
| 8 | g.6877829G>T | CA370230901 | DEFB1 | c.29C>A (p.Thr10Asn) | |
| 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) |