| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6877789G>C | CA459186050 | DEFB1 | c.61+8C>G (n.61+8C>G) | dbSNP |
| 8 | g.6877789G= | CA1761188597 | DEFB1 | c.61+8C= (n.61+8C=) | |
| 8 | g.6877789G>T | CA4612869 | DEFB1 | c.61+8C>A (n.61+8C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877790A= | CA1761188598 | DEFB1 | c.61+7T= (n.61+7T=) | |
| 8 | g.6877790A>C | CA4612870 | DEFB1 | c.61+7T>G (n.61+7T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877790A>T | CA2579088546 | DEFB1 | c.61+7T>A (n.61+7T>A) | |
| 8 | g.6877791G>A | CA4612871 | DEFB1 | c.61+6C>T (n.61+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877791G>C | CA579664770 | DEFB1 | c.61+6C>G (n.61+6C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877791G= | CA1761188599 | DEFB1 | c.61+6C= (n.61+6C=) | |
| 8 | g.6877792C= | CA1761188600 | DEFB1 | c.61+5G= (n.61+5G=) | |
| 8 | g.6877792C>G | CA854609038 | DEFB1 | c.61+5G>C (n.61+5G>C) | dbSNP |
| 8 | g.6877792C>T | CA4612872 | DEFB1 | c.61+5G>A (n.61+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877793T>C | CA2686023161 | DEFB1 | c.61+4A>G (n.61+4A>G) | gnomAD v4 |
| 8 | g.6877793T>G | CA2686023162 | DEFB1 | c.61+4A>C (n.61+4A>C) | gnomAD v4 |
| 8 | g.6877795A>C | CA370230781 | DEFB1 | c.61+2T>G (n.61+2T>G) | |
| 8 | g.6877795A>G | CA370230782 | DEFB1 | c.61+2T>C (n.61+2T>C) | |
| 8 | g.6877795A>T | CA370230783 | DEFB1 | c.61+2T>A (n.61+2T>A) | |
| 8 | g.6877796C>A | CA370230785 | DEFB1 | c.61+1G>T (n.61+1G>T) | |
| 8 | g.6877796C= | CA1761188601 | DEFB1 | c.61+1G= (n.61+1G=) | |
| 8 | g.6877796C>G | CA4612873 | DEFB1 | c.61+1G>C (n.61+1G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877796C>T | CA370230787 | DEFB1 | c.61+1G>A (n.61+1G>A) | gnomAD v4 |
| 8 | g.6877797del | CA2579088547 | DEFB1 | c.61+1del | |
| 8 | g.6877797C>A | CA171486173 | DEFB1 | c.61G>T (p.Gly21Cys) | dbSNP gnomAD v4 |
| 8 | g.6877797C= | CA1761188602 | DEFB1 | c.61G= (p.Gly21=) | |
| 8 | g.6877797C>G | CA4612874 | DEFB1 | c.61G>C (p.Gly21Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877797C>T | CA171486174 | DEFB1 | c.61G>A (p.Gly21Ser) | dbSNP gnomAD v4 |
| 8 | g.6877798T>A | CA459186101 | DEFB1 | c.60A>T (p.Ser20=) | |
| 8 | g.6877798T>C | CA459186103 | DEFB1 | c.60A>G (p.Ser20=) | |
| 8 | g.6877798T>G | CA459186107 | DEFB1 | c.60A>C (p.Ser20=) | |
| 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 |