8 | g.6877752C>A | CA1761188566 | DEFB1 | c.61+45G>T (n.61+45G>T)
| dbSNP gnomAD v4 |
8 | g.6877752C= | CA1761188565 | DEFB1 | c.61+45G= (n.61+45G=)
| |
8 | g.6877755del | CA2686023128 | DEFB1 | c.61+45del (n.61+45del)
| gnomAD v4 |
8 | g.6877753C>A | CA2686023129 | DEFB1 | c.61+44G>T (n.61+44G>T)
| gnomAD v4 |
8 | g.6877754C>A | CA2686023130 | DEFB1 | c.61+43G>T (n.61+43G>T)
| gnomAD v4 |
8 | g.6877754C= | CA1761188567 | DEFB1 | c.61+43G= (n.61+43G=)
| |
8 | g.6877754C>G | CA2686023131 | DEFB1 | c.61+43G>C (n.61+43G>C)
| dbSNP gnomAD v4 |
8 | g.6877754C>T | CA854608969 | DEFB1 | c.61+43G>A (n.61+43G>A)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877755C>A | CA4612857 | DEFB1 | c.61+42G>T (n.61+42G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877755C= | CA1761188568 | DEFB1 | c.61+42G= (n.61+42G=)
| |
8 | g.6877755C>T | CA2686023132 | DEFB1 | c.61+42G>A (n.61+42G>A)
| gnomAD v4 |
8 | g.6877756A>G | CA2686023133 | DEFB1 | c.61+41T>C (n.61+41T>C)
| gnomAD v4 |
8 | g.6877757G= | CA1761188569 | DEFB1 | c.61+40C= (n.61+40C=)
| |
8 | g.6877757G>T | CA579664745 | DEFB1 | c.61+40C>A (n.61+40C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877758C>G | CA2579088543 | DEFB1 | c.61+39G>C (n.61+39G>C)
| gnomAD v4 |
8 | g.6877759C>A | CA2686023134 | DEFB1 | c.61+38G>T (n.61+38G>T)
| gnomAD v4 |
8 | g.6877759C= | CA1761188570 | DEFB1 | c.61+38G= (n.61+38G=)
| |
8 | g.6877759C>G | CA1761188571 | DEFB1 | c.61+38G>C (n.61+38G>C)
| dbSNP gnomAD v4 |
8 | g.6877760C>A | CA2686023135 | DEFB1 | c.61+37G>T (n.61+37G>T)
| gnomAD v4 |
8 | g.6877760C= | CA1761188572 | DEFB1 | c.61+37G= (n.61+37G=)
| |
8 | g.6877760C>G | CA854608977 | DEFB1 | c.61+37G>C (n.61+37G>C)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877760C>T | CA2686023136 | DEFB1 | c.61+37G>A (n.61+37G>A)
| gnomAD v4 |
8 | g.6877760_6877763dup | CA854608978 | DEFB1 | c.61+34_61+37dup (n.61+34_61+37dup)
| dbSNP |
8 | g.6877762G>T | CA2579088544 | DEFB1 | c.61+35C>A (n.61+35C>A)
| gnomAD v4 |
8 | g.6877765del | CA2686023137 | DEFB1 | c.61+35del (n.61+35del)
| gnomAD v4 |
8 | g.6877763G>A | CA1761188574 | DEFB1 | c.61+34C>T (n.61+34C>T)
| dbSNP gnomAD v4 |
8 | g.6877763G= | CA1761188573 | DEFB1 | c.61+34C= (n.61+34C=)
| |
8 | g.6877763G>T | CA4612858 | DEFB1 | c.61+34C>A (n.61+34C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877764G>A | CA2686023138 | DEFB1 | c.61+33C>T (n.61+33C>T)
| gnomAD v4 |
8 | g.6877764G>C | CA579664746 | DEFB1 | c.61+33C>G (n.61+33C>G)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877764G= | CA1761188575 | DEFB1 | c.61+33C= (n.61+33C=)
| |
8 | g.6877764G>T | CA4612859 | DEFB1 | c.61+33C>A (n.61+33C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877765G>A | CA171486087 | DEFB1 | c.61+32C>T (n.61+32C>T)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877765G= | CA1761188576 | DEFB1 | c.61+32C= (n.61+32C=)
| |
8 | g.6877765G>T | CA2686023139 | DEFB1 | c.61+32C>A (n.61+32C>A)
| gnomAD v4 |
8 | g.6877766A= | CA1761188577 | DEFB1 | c.61+31T= (n.61+31T=)
| |
8 | g.6877766A>C | CA1110233962 | DEFB1 | c.61+31T>G (n.61+31T>G)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877766A>G | CA579664750 | DEFB1 | c.61+31T>C (n.61+31T>C)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877766A>T | CA2778897135 | DEFB1 | c.61+31T>A (n.61+31T>A)
| |
8 | g.6877767T>C | CA4612860 | DEFB1 | c.61+30A>G (n.61+30A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877767T>G | CA171486094 | DEFB1 | c.61+30A>C (n.61+30A>C)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877767T= | CA1761188578 | DEFB1 | c.61+30A= (n.61+30A=)
| |
8 | g.6877768G>A | CA2778897136 | DEFB1 | c.61+29C>T (n.61+29C>T)
| |
8 | g.6877768G>T | CA2686023140 | DEFB1 | c.61+29C>A (n.61+29C>A)
| gnomAD v4 |
8 | g.6877769G>A | CA2686023141 | DEFB1 | c.61+28C>T (n.61+28C>T)
| gnomAD v4 |
8 | g.6877770G>A | CA4612861 | DEFB1 | c.61+27C>T (n.61+27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877770G>C | CA2686023142 | DEFB1 | c.61+27C>G (n.61+27C>G)
| gnomAD v4 |
8 | g.6877770G= | CA1761188579 | DEFB1 | c.61+27C= (n.61+27C=)
| |
8 | g.6877770G>T | CA2686023143 | DEFB1 | c.61+27C>A (n.61+27C>A)
| gnomAD v4 |
8 | g.6877771A>T | CA2686023144 | DEFB1 | c.61+26T>A (n.61+26T>A)
| gnomAD v4 |
8 | g.6877773A>C | CA2686023145 | DEFB1 | c.61+24T>G (n.61+24T>G)
| gnomAD v4 |
8 | g.6877774C>A | CA4612862 | DEFB1 | c.61+23G>T (n.61+23G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877774C= | CA1761188580 | DEFB1 | c.61+23G= (n.61+23G=)
| |
8 | g.6877774C>G | CA2579088545 | DEFB1 | c.61+23G>C (n.61+23G>C)
| gnomAD v4 |
8 | g.6877774C>T | CA4612863 | DEFB1 | c.61+23G>A (n.61+23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877776_6877777del | CA2778897137 | DEFB1 | c.61+22_61+23del (n.61+22_61+23del)
| |
8 | g.6877775T>C | CA2686023147 | DEFB1 | c.61+22A>G (n.61+22A>G)
| gnomAD v4 |
8 | g.6877776_6877778del | CA2686023146 | DEFB1 | c.61+20_61+22del (n.61+20_61+22del)
| gnomAD v4 |
8 | g.6877776C= | CA1761188581 | DEFB1 | c.61+21G= (n.61+21G=)
| |
8 | g.6877776C>G | CA4612864 | DEFB1 | c.61+21G>C (n.61+21G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877776C>T | CA2686023148 | DEFB1 | c.61+21G>A (n.61+21G>A)
| 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 |
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.6877804del | CA2778897141 | DEFB1 | c.55del (p.Ala19ProfsTer?)
| |
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 |
8 | g.6877813C>T | CA459186229 | DEFB1 | c.45G>A (p.Leu15=)
| |
8 | g.6877814A>C | CA370230848 | DEFB1 | c.44T>G (p.Leu15Trp)
| |
8 | g.6877814A>G | CA370230850 | DEFB1 | c.44T>C (p.Leu15Ser)
| |
8 | g.6877814A>T | CA370230852 | DEFB1 | c.44T>A (p.Leu15Ter)
| |
8 | g.6877817del | CA579664783 | DEFB1 | c.44del (p.Leu15CysfsTer?)
| gnomAD v2 gnomAD v4 |
8 | g.6877815A>C | CA370230853 | DEFB1 | c.43T>G (p.Leu15Val)
| |
8 | g.6877815A>G | CA459186246 | DEFB1 | c.43T>C (p.Leu15=)
| |
8 | g.6877815A>T | CA370230855 | DEFB1 | c.43T>A (p.Leu15Met)
| |
8 | g.6877816A= | CA1761188609 | DEFB1 | c.42T= (p.Leu14=)
| |
8 | g.6877816A>C | CA459186253 | DEFB1 | c.42T>G (p.Leu14=)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877816A>G | CA459186258 | DEFB1 | c.42T>C (p.Leu14=)
| |
8 | g.6877816A>T | CA459186262 | DEFB1 | c.42T>A (p.Leu14=)
| |
8 | g.6877817A>C | CA370230857 | DEFB1 | c.41T>G (p.Leu14Arg)
| |
8 | g.6877817A>G | CA370230858 | DEFB1 | c.41T>C (p.Leu14Pro)
| |
8 | g.6877817A>T | CA370230859 | DEFB1 | c.41T>A (p.Leu14His)
| |
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)
| |
8 | g.6877831A>G | CA459186393 | DEFB1 | c.27T>C (p.Phe9=)
| |
8 | g.6877831A>T | CA370230909 | DEFB1 | c.27T>A (p.Phe9Leu)
| |
8 | g.6877832A>C | CA370230910 | DEFB1 | c.26T>G (p.Phe9Cys)
| gnomAD v4 |
8 | g.6877832A>G | CA370230912 | DEFB1 | c.26T>C (p.Phe9Ser)
| |
8 | g.6877832A>T | CA370230914 | DEFB1 | c.26T>A (p.Phe9Tyr)
| |
8 | g.6877833A>C | CA370230917 | DEFB1 | c.25T>G (p.Phe9Val)
| |
8 | g.6877833A>G | CA370230918 | DEFB1 | c.25T>C (p.Phe9Leu)
| |
8 | g.6877833A>T | CA370230916 | DEFB1 | c.25T>A (p.Phe9Ile)
| |
8 | g.6877834C>A | CA459186424 | DEFB1 | c.24G>T (p.Leu8=)
| |
8 | g.6877834C= | CA1761188619 | DEFB1 | c.24G= (p.Leu8=)
| |
8 | g.6877834C>G | CA459186428 | DEFB1 | c.24G>C (p.Leu8=)
| gnomAD v4 |
8 | g.6877834C>T | CA459186432 | DEFB1 | c.24G>A (p.Leu8=)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877835A>C | CA370230922 | DEFB1 | c.23T>G (p.Leu8Arg)
| |
8 | g.6877835A>G | CA370230920 | DEFB1 | c.23T>C (p.Leu8Pro)
| |
8 | g.6877835A>T | CA370230923 | DEFB1 | c.23T>A (p.Leu8Gln)
| |
8 | g.6877836G>A | CA459186445 | DEFB1 | c.22C>T (p.Leu8=)
| |
8 | g.6877836G>C | CA370230924 | DEFB1 | c.22C>G (p.Leu8Val)
| dbSNP |
8 | g.6877836G= | CA1761188620 | DEFB1 | c.22C= (p.Leu8=)
| |
8 | g.6877836G>T | CA370230925 | DEFB1 | c.22C>A (p.Leu8Met)
| |
8 | g.6877837C>A | CA459186455 | DEFB1 | c.21G>T (p.Leu7=)
| |
8 | g.6877837C= | CA1761188621 | DEFB1 | c.21G= (p.Leu7=)
| |
8 | g.6877837C>G | CA459186458 | DEFB1 | c.21G>C (p.Leu7=)
| |
8 | g.6877837C>T | CA459186461 | DEFB1 | c.21G>A (p.Leu7=)
| dbSNP gnomAD v4 |
8 | g.6877838A= | CA1761188622 | DEFB1 | c.20T= (p.Leu7=)
| |
8 | g.6877838A>C | CA370230926 | DEFB1 | c.20T>G (p.Leu7Arg)
| |
8 | g.6877838A>G | CA4612883 | DEFB1 | c.20T>C (p.Leu7Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877838A>T | CA370230928 | DEFB1 | c.20T>A (p.Leu7Gln)
| |
8 | g.6877839G>A | CA459186468 | DEFB1 | c.19C>T (p.Leu7=)
| dbSNP |
8 | g.6877839G>C | CA370230930 | DEFB1 | c.19C>G (p.Leu7Val)
| gnomAD v4 |
8 | g.6877839G= | CA1761188623 | DEFB1 | c.19C= (p.Leu7=)
| |
8 | g.6877839G>T | CA370230931 | DEFB1 | c.19C>A (p.Leu7Met)
| gnomAD v4 |
8 | g.6877840A>C | CA459186479 | DEFB1 | c.18T>G (p.Leu6=)
| |
8 | g.6877840A>G | CA459186481 | DEFB1 | c.18T>C (p.Leu6=)
| gnomAD v4 |
8 | g.6877840A>T | CA459186483 | DEFB1 | c.18T>A (p.Leu6=)
| |
8 | g.6877841A>C | CA370230935 | DEFB1 | c.17T>G (p.Leu6Arg)
| |
8 | g.6877841A>G | CA370230933 | DEFB1 | c.17T>C (p.Leu6Pro)
| |
8 | g.6877841A>T | CA370230932 | DEFB1 | c.17T>A (p.Leu6His)
| |
8 | g.6877842G>A | CA4612885 | DEFB1 | c.16C>T (p.Leu6Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877842G>C | CA4612884 | DEFB1 | c.16C>G (p.Leu6Val)
| dbSNP ExAC gnomAD v2 |
8 | g.6877842G= | CA1761188624 | DEFB1 | c.16C= (p.Leu6=)
| |
8 | g.6877842G>T | CA370230937 | DEFB1 | c.16C>A (p.Leu6Ile)
| gnomAD v4 |
8 | g.6877843G>A | CA4612886 | DEFB1 | c.15C>T (p.Tyr5=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877843G>C | CA4612887 | DEFB1 | c.15C>G (p.Tyr5Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877843G= | CA1761188625 | DEFB1 | c.15C= (p.Tyr5=)
| |
8 | g.6877843G>T | CA370230939 | DEFB1 | c.15C>A (p.Tyr5Ter)
| gnomAD v4 |
8 | g.6877844T>A | CA370230945 | DEFB1 | c.14A>T (p.Tyr5Phe)
| |
8 | g.6877844T>C | CA370230942 | DEFB1 | c.14A>G (p.Tyr5Cys)
| COSMIC |
8 | g.6877844T>G | CA370230944 | DEFB1 | c.14A>C (p.Tyr5Ser)
| |
8 | g.6877845A= | CA1761188626 | DEFB1 | c.13T= (p.Tyr5=)
| |
8 | g.6877845A>C | CA370230947 | DEFB1 | c.13T>G (p.Tyr5Asp)
| |
8 | g.6877845A>G | CA370230949 | DEFB1 | c.13T>C (p.Tyr5His)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877845A>T | CA370230951 | DEFB1 | c.13T>A (p.Tyr5Asn)
| gnomAD v4 |
8 | g.6877846G>A | CA4612888 | DEFB1 | c.12C>T (p.Ser4=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877846G>C | CA459186535 | DEFB1 | c.12C>G (p.Ser4=)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877846G= | CA1761188627 | DEFB1 | c.12C= (p.Ser4=)
| |
8 | g.6877846G>T | CA459186540 | DEFB1 | c.12C>A (p.Ser4=)
| |
8 | g.6877847G>A | CA370230954 | DEFB1 | c.11C>T (p.Ser4Phe)
| gnomAD v4 |
8 | g.6877847G>C | CA370230955 | DEFB1 | c.11C>G (p.Ser4Cys)
| |
8 | g.6877847G>T | CA370230957 | DEFB1 | c.11C>A (p.Ser4Tyr)
| |
8 | g.6877848A>C | CA370230959 | DEFB1 | c.10T>G (p.Ser4Ala)
| |
8 | g.6877848A>G | CA370230961 | DEFB1 | c.10T>C (p.Ser4Pro)
| |
8 | g.6877848A>T | CA370230962 | DEFB1 | c.10T>A (p.Ser4Thr)
| |
8 | g.6877849A= | CA1761188628 | DEFB1 | c.9T= (p.Thr3=)
| |
8 | g.6877849A>C | CA459186559 | DEFB1 | c.9T>G (p.Thr3=)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877849A>G | CA459186566 | DEFB1 | c.9T>C (p.Thr3=)
| gnomAD v4 |
8 | g.6877849A>T | CA459186563 | DEFB1 | c.9T>A (p.Thr3=)
| |
8 | g.6877850G>A | CA4612889 | DEFB1 | c.8C>T (p.Thr3Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877850G>C | CA370230964 | DEFB1 | c.8C>G (p.Thr3Ser)
| |
8 | g.6877850G= | CA1761188629 | DEFB1 | c.8C= (p.Thr3=)
| |
8 | g.6877850G>T | CA370230966 | DEFB1 | c.8C>A (p.Thr3Asn)
| COSMIC |
8 | g.6877851T>A | CA370230968 | DEFB1 | c.7A>T (p.Thr3Ser)
| |
8 | g.6877851T>C | CA370230970 | DEFB1 | c.7A>G (p.Thr3Ala)
| |
8 | g.6877851T>G | CA370230969 | DEFB1 | c.7A>C (p.Thr3Pro)
| |
8 | g.6877852T>A | CA370230972 | DEFB1 | c.6A>T (p.Arg2Ser)
| |
8 | g.6877852T>C | CA459186593 | DEFB1 | c.6A>G (p.Arg2=)
| |
8 | g.6877852T>G | CA370230973 | DEFB1 | c.6A>C (p.Arg2Ser)
| |