| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6877799G>A | CA370230792 | DEFB1 | c.59C>T (p.Ser20Leu) | |
| 8 | g.6877799G>C | CA370230793 | DEFB1 | c.59C>G (p.Ser20Ter) | gnomAD v4 |
| 8 | g.6877799G>T | CA370230794 | DEFB1 | c.59C>A (p.Ser20Ter) | |
| 8 | g.6877800A>C | CA370230799 | DEFB1 | c.58T>G (p.Ser20Ala) | |
| 8 | g.6877800A>G | CA370230796 | DEFB1 | c.58T>C (p.Ser20Pro) | |
| 8 | g.6877800A>T | CA370230797 | DEFB1 | c.58T>A (p.Ser20Thr) | |
| 8 | g.6877801G>A | CA459186122 | DEFB1 | c.57C>T (p.Ala19=) | |
| 8 | g.6877801G>C | CA459186119 | DEFB1 | c.57C>G (p.Ala19=) | |
| 8 | g.6877801G= | CA1761188603 | DEFB1 | c.57C= (p.Ala19=) | |
| 8 | g.6877801G>T | CA459186116 | DEFB1 | c.57C>A (p.Ala19=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877802G>A | CA370230801 | DEFB1 | c.56C>T (p.Ala19Val) | gnomAD v4 |
| 8 | g.6877802G>C | CA370230803 | DEFB1 | c.56C>G (p.Ala19Gly) | gnomAD v4 |
| 8 | g.6877802G= | CA1761188604 | DEFB1 | c.56C= (p.Ala19=) | |
| 8 | g.6877802G>T | CA370230804 | DEFB1 | c.56C>A (p.Ala19Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877803C>A | CA370230806 | DEFB1 | c.55G>T (p.Ala19Ser) | gnomAD v4 |
| 8 | g.6877803C= | CA1761188605 | DEFB1 | c.55G= (p.Ala19=) | |
| 8 | g.6877803C>G | CA370230808 | DEFB1 | c.55G>C (p.Ala19Pro) | gnomAD v4 |
| 8 | g.6877803C>T | CA4612875 | DEFB1 | c.55G>A (p.Ala19Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877804C>A | CA370230811 | DEFB1 | c.54G>T (p.Met18Ile) | gnomAD v4 |
| 8 | g.6877804C= | CA1761188606 | DEFB1 | c.54G= (p.Met18=) | |
| 8 | g.6877804C>G | CA370230813 | DEFB1 | c.54G>C (p.Met18Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877804C>T | CA370230814 | DEFB1 | c.54G>A (p.Met18Ile) | dbSNP gnomAD v4 |
| 8 | g.6877805A>C | CA370230816 | DEFB1 | c.53T>G (p.Met18Arg) | gnomAD v4 |
| 8 | g.6877805A>G | CA370230818 | DEFB1 | c.53T>C (p.Met18Thr) | gnomAD v4 |
| 8 | g.6877805A>T | CA370230819 | DEFB1 | c.53T>A (p.Met18Lys) | |
| 8 | g.6877806T>A | CA370230822 | DEFB1 | c.52A>T (p.Met18Leu) | gnomAD v4 |
| 8 | g.6877806T>C | CA370230824 | DEFB1 | c.52A>G (p.Met18Val) | |
| 8 | g.6877806T>G | CA370230821 | DEFB1 | c.52A>C (p.Met18Leu) | |
| 8 | g.6877807C>A | CA370230827 | DEFB1 | c.51G>T (p.Glu17Asp) | |
| 8 | g.6877807C>G | CA370230826 | DEFB1 | c.51G>C (p.Glu17Asp) | |
| 8 | g.6877807C>T | CA459186176 | DEFB1 | c.51G>A (p.Glu17=) | |
| 8 | g.6877808T>A | CA370230830 | DEFB1 | c.50A>T (p.Glu17Val) | |
| 8 | g.6877808T>C | CA370230831 | DEFB1 | c.50A>G (p.Glu17Gly) | |
| 8 | g.6877808T>G | CA370230833 | DEFB1 | c.50A>C (p.Glu17Ala) | |
| 8 | g.6877809C>A | CA370230834 | DEFB1 | c.49G>T (p.Glu17Ter) | |
| 8 | g.6877809C= | CA1761188607 | DEFB1 | c.49G= (p.Glu17=) | |
| 8 | g.6877809C>G | CA4612876 | DEFB1 | c.49G>C (p.Glu17Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877809C>T | CA370230836 | DEFB1 | c.49G>A (p.Glu17Lys) | |
| 8 | g.6877810A>C | CA459186197 | DEFB1 | c.48T>G (p.Ser16=) | |
| 8 | g.6877810A>G | CA459186200 | DEFB1 | c.48T>C (p.Ser16=) | |
| 8 | g.6877810A>T | CA459186203 | DEFB1 | c.48T>A (p.Ser16=) | |
| 8 | g.6877811G>A | CA370230837 | DEFB1 | c.47C>T (p.Ser16Phe) | |
| 8 | g.6877811G>C | CA370230838 | DEFB1 | c.47C>G (p.Ser16Cys) | |
| 8 | g.6877811G>T | CA370230840 | DEFB1 | c.47C>A (p.Ser16Tyr) | gnomAD v4 |
| 8 | g.6877812A>C | CA370230842 | DEFB1 | c.46T>G (p.Ser16Ala) | |
| 8 | g.6877812A>G | CA370230844 | DEFB1 | c.46T>C (p.Ser16Pro) | |
| 8 | g.6877812A>T | CA370230845 | DEFB1 | c.46T>A (p.Ser16Thr) | |
| 8 | g.6877813C>A | CA370230847 | DEFB1 | c.45G>T (p.Leu15Phe) | |
| 8 | g.6877813C= | CA1761188608 | DEFB1 | c.45G= (p.Leu15=) | |
| 8 | g.6877813C>G | CA4612877 | DEFB1 | c.45G>C (p.Leu15Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |