Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.6877776_6877778del | CA2686023146 | DEFB1 | c.61+20_61+22del (n.61+20_61+22del) | gnomAD v4 |
8 | g.6877778T>A | CA4612865 | DEFB1 | c.61+19A>T (n.61+19A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877778T>C | CA1761188583 | DEFB1 | c.61+19A>G (n.61+19A>G) | dbSNP |
8 | g.6877778T>G | CA1761188582 | DEFB1 | c.61+19A>C (n.61+19A>C) | dbSNP gnomAD v4 |
8 | g.6877778T= | CA1761188584 | DEFB1 | c.61+19A= (n.61+19A=) | |
8 | g.6877778_6877779insA | CA652031397 | DEFB1 | c.61+18_61+19insT (n.61+18_61+19insT) | |
8 | g.6877779G>T | CA2686023150 | DEFB1 | c.61+18C>A (n.61+18C>A) | gnomAD v4 |
8 | g.6877779_6877780del | CA2686023149 | DEFB1 | c.61+17_61+18del (n.61+17_61+18del) | gnomAD v4 |
8 | g.6877780del | CA2686023151 | DEFB1 | c.61+17del (n.61+17del) | gnomAD v4 |
8 | g.6877780C= | CA1761188585 | DEFB1 | c.61+17G= (n.61+17G=) | |
8 | g.6877780C>G | CA1761188586 | DEFB1 | c.61+17G>C (n.61+17G>C) | dbSNP |
8 | g.6877780C>T | CA2686023152 | DEFB1 | c.61+17G>A (n.61+17G>A) | gnomAD v4 |
8 | g.6877781A>G | CA2686023153 | DEFB1 | c.61+16T>C (n.61+16T>C) | gnomAD v4 |
8 | g.6877782G>A | CA1761188588 | DEFB1 | c.61+15C>T (n.61+15C>T) | dbSNP gnomAD v4 |
8 | g.6877782G>C | CA2686023155 | DEFB1 | c.61+15C>G (n.61+15C>G) | gnomAD v4 |
8 | g.6877782G= | CA1761188587 | DEFB1 | c.61+15C= (n.61+15C=) | |
8 | g.6877782G>T | CA2686023154 | DEFB1 | c.61+15C>A (n.61+15C>A) | gnomAD v4 |
8 | g.6877783G>A | CA579664758 | DEFB1 | c.61+14C>T (n.61+14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877783G>C | CA171486123 | DEFB1 | c.61+14C>G (n.61+14C>G) | dbSNP gnomAD v4 |
8 | g.6877783G= | CA1761188589 | DEFB1 | c.61+14C= (n.61+14C=) | |
8 | g.6877783G>T | CA2686023156 | DEFB1 | c.61+14C>A (n.61+14C>A) | gnomAD v4 |
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 |