Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.6877784T>C | CA1761188591 | DEFB1 | c.61+13A>G (n.61+13A>G) | dbSNP gnomAD v4 |
8 | g.6877784T= | CA1761188590 | DEFB1 | c.61+13A= (n.61+13A=) | |
8 | g.6877785A= | CA1761188592 | DEFB1 | c.61+12T= (n.61+12T=) | |
8 | g.6877785A>G | CA4612866 | DEFB1 | c.61+12T>C (n.61+12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877785A>T | CA2686023157 | DEFB1 | c.61+12T>A (n.61+12T>A) | gnomAD v4 |
8 | g.6877786C>A | CA2686023159 | DEFB1 | c.61+11G>T (n.61+11G>T) | gnomAD v4 |
8 | g.6877786C= | CA1761188593 | DEFB1 | c.61+11G= (n.61+11G=) | |
8 | g.6877786C>G | CA4612867 | DEFB1 | c.61+11G>C (n.61+11G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877786C>T | CA2686023160 | DEFB1 | c.61+11G>A (n.61+11G>A) | gnomAD v4 |
8 | g.6877787del | CA2686023158 | DEFB1 | c.61+11del (n.61+11del) | gnomAD v4 |
8 | g.6877786_6877787insT | CA918194043 | DEFB1 | c.61+10_61+11insA (n.61+10_61+11insA) | dbSNP |
8 | g.6877787C= | CA1761188594 | DEFB1 | c.61+10G= (n.61+10G=) | |
8 | g.6877787C>T | CA4612868 | DEFB1 | c.61+10G>A (n.61+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877788A= | CA1761188595 | DEFB1 | c.61+9T= (n.61+9T=) | |
8 | g.6877788A>G | CA1761188596 | DEFB1 | c.61+9T>C (n.61+9T>C) | dbSNP gnomAD v4 |
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) |