Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99428423_99428424delCA2762806363ADH7c.259+73_259+74del (n.259+73_259+74del)
c.295+73_295+74del (n.295+73_295+74del)
c.88+73_88+74del (n.88+73_88+74del)
c.319+73_319+74del (n.319+73_319+74del)
4g.99428420G>TCA2671525458ADH7c.259+72C>A (n.259+72C>A)
c.295+72C>A (n.295+72C>A)
c.88+72C>A (n.88+72C>A)
c.319+72C>A (n.319+72C>A)
 gnomAD v4
4g.99428422G>ACA553108832ADH7c.259+70C>T (n.259+70C>T)
c.295+70C>T (n.295+70C>T)
c.88+70C>T (n.88+70C>T)
c.319+70C>T (n.319+70C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428422G=CA1480005175ADH7c.259+70C= (n.259+70C=)
c.295+70C= (n.295+70C=)
c.88+70C= (n.88+70C=)
c.319+70C= (n.319+70C=)
4g.99428422G>TCA2671525459ADH7c.259+70C>A (n.259+70C>A)
c.295+70C>A (n.295+70C>A)
c.88+70C>A (n.88+70C>A)
c.319+70C>A (n.319+70C>A)
 gnomAD v4
4g.99428423T>CCA2578151679ADH7c.259+69A>G (n.259+69A>G)
c.295+69A>G (n.295+69A>G)
c.88+69A>G (n.88+69A>G)
c.319+69A>G (n.319+69A>G)
4g.99428424G>ACA2578151680ADH7c.259+68C>T (n.259+68C>T)
c.295+68C>T (n.295+68C>T)
c.88+68C>T (n.88+68C>T)
c.319+68C>T (n.319+68C>T)
 gnomAD v4
4g.99428424G>CCA102654030ADH7c.259+68C>G (n.259+68C>G)
c.295+68C>G (n.295+68C>G)
c.88+68C>G (n.88+68C>G)
c.319+68C>G (n.319+68C>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99428424G=CA1480005178ADH7c.259+68C= (n.259+68C=)
c.295+68C= (n.295+68C=)
c.88+68C= (n.88+68C=)
c.319+68C= (n.319+68C=)
4g.99428424G>TCA2671525460ADH7c.259+68C>A (n.259+68C>A)
c.295+68C>A (n.295+68C>A)
c.88+68C>A (n.88+68C>A)
c.319+68C>A (n.319+68C>A)
 gnomAD v4
4g.99428425C>TCA2671525461ADH7c.259+67G>A (n.259+67G>A)
c.295+67G>A (n.295+67G>A)
c.88+67G>A (n.88+67G>A)
c.319+67G>A (n.319+67G>A)
 gnomAD v4
4g.99428426T>CCA2578151681ADH7c.259+66A>G (n.259+66A>G)
c.295+66A>G (n.295+66A>G)
c.88+66A>G (n.88+66A>G)
c.319+66A>G (n.319+66A>G)
4g.99428427A=CA1480005180ADH7c.259+65T= (n.259+65T=)
c.295+65T= (n.295+65T=)
c.88+65T= (n.88+65T=)
c.319+65T= (n.319+65T=)
4g.99428427A>CCA1065920879ADH7c.259+65T>G (n.259+65T>G)
c.295+65T>G (n.295+65T>G)
c.88+65T>G (n.88+65T>G)
c.319+65T>G (n.319+65T>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99428427A>GCA2671525462ADH7c.259+65T>C (n.259+65T>C)
c.295+65T>C (n.295+65T>C)
c.88+65T>C (n.88+65T>C)
c.319+65T>C (n.319+65T>C)
 gnomAD v4
4g.99428428T>ACA1480005183ADH7c.259+64A>T (n.259+64A>T)
c.295+64A>T (n.295+64A>T)
c.88+64A>T (n.88+64A>T)
c.319+64A>T (n.319+64A>T)
 dbSNP
4g.99428428T>CCA2578151682ADH7c.259+64A>G (n.259+64A>G)
c.295+64A>G (n.295+64A>G)
c.88+64A>G (n.88+64A>G)
c.319+64A>G (n.319+64A>G)
4g.99428428T=CA1480005181ADH7c.259+64A= (n.259+64A=)
c.295+64A= (n.295+64A=)
c.88+64A= (n.88+64A=)
c.319+64A= (n.319+64A=)
4g.99428430T>CCA2671525463ADH7c.259+62A>G (n.259+62A>G)
c.295+62A>G (n.295+62A>G)
c.88+62A>G (n.88+62A>G)
c.319+62A>G (n.319+62A>G)
 gnomAD v4
4g.99428432C>GCA2762806364ADH7c.259+60G>C (n.259+60G>C)
c.295+60G>C (n.295+60G>C)
c.88+60G>C (n.88+60G>C)
c.319+60G>C (n.319+60G>C)
4g.99428432C>TCA2671525464ADH7c.259+60G>A (n.259+60G>A)
c.295+60G>A (n.295+60G>A)
c.88+60G>A (n.88+60G>A)
c.319+60G>A (n.319+60G>A)
 gnomAD v4
4g.99428436G>TCA2671525465ADH7c.259+56C>A (n.259+56C>A)
c.295+56C>A (n.295+56C>A)
c.88+56C>A (n.88+56C>A)
c.319+56C>A (n.319+56C>A)
 gnomAD v4
4g.99428439A>GCA2671525466ADH7c.259+53T>C (n.259+53T>C)
c.295+53T>C (n.295+53T>C)
c.88+53T>C (n.88+53T>C)
c.319+53T>C (n.319+53T>C)
 gnomAD v4
4g.99428440G>TCA2671525467ADH7c.259+52C>A (n.259+52C>A)
c.295+52C>A (n.295+52C>A)
c.88+52C>A (n.88+52C>A)
c.319+52C>A (n.319+52C>A)
 gnomAD v4
4g.99428441G>ACA3020890ADH7c.259+51C>T (n.259+51C>T)
c.295+51C>T (n.295+51C>T)
c.88+51C>T (n.88+51C>T)
c.319+51C>T (n.319+51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428441G=CA1480005184ADH7c.259+51C= (n.259+51C=)
c.295+51C= (n.295+51C=)
c.88+51C= (n.88+51C=)
c.319+51C= (n.319+51C=)
4g.99428441G>TCA2671525468ADH7c.259+51C>A (n.259+51C>A)
c.295+51C>A (n.295+51C>A)
c.88+51C>A (n.88+51C>A)
c.319+51C>A (n.319+51C>A)
 gnomAD v4
4g.99428442C>ACA2671525469ADH7c.259+50G>T (n.259+50G>T)
c.295+50G>T (n.295+50G>T)
c.88+50G>T (n.88+50G>T)
c.319+50G>T (n.319+50G>T)
 gnomAD v4
4g.99428442C=CA1480005187ADH7c.259+50G= (n.259+50G=)
c.295+50G= (n.295+50G=)
c.88+50G= (n.88+50G=)
c.319+50G= (n.319+50G=)
4g.99428442C>GCA553108834ADH7c.259+50G>C (n.259+50G>C)
c.295+50G>C (n.295+50G>C)
c.88+50G>C (n.88+50G>C)
c.319+50G>C (n.319+50G>C)
 dbSNP gnomAD v2 gnomAD v4
4g.99428442C>TCA2671525470ADH7c.259+50G>A (n.259+50G>A)
c.295+50G>A (n.295+50G>A)
c.88+50G>A (n.88+50G>A)
c.319+50G>A (n.319+50G>A)
 gnomAD v4
4g.99428443T>CCA553108836ADH7c.259+49A>G (n.259+49A>G)
c.295+49A>G (n.295+49A>G)
c.88+49A>G (n.88+49A>G)
c.319+49A>G (n.319+49A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.99428443T=CA1480005190ADH7c.259+49A= (n.259+49A=)
c.295+49A= (n.295+49A=)
c.88+49A= (n.88+49A=)
c.319+49A= (n.319+49A=)
4g.99428444_99428446dupCA2671525471ADH7c.259+47_259+49dup (n.259+47_259+49dup)
c.295+47_295+49dup (n.295+47_295+49dup)
c.88+47_88+49dup (n.88+47_88+49dup)
c.319+47_319+49dup (n.319+47_319+49dup)
 gnomAD v4
4g.99428445A=CA1480005193ADH7c.259+47T= (n.259+47T=)
c.295+47T= (n.295+47T=)
c.88+47T= (n.88+47T=)
c.319+47T= (n.319+47T=)
4g.99428445A>GCA553108837ADH7c.259+47T>C (n.259+47T>C)
c.295+47T>C (n.295+47T>C)
c.88+47T>C (n.88+47T>C)
c.319+47T>C (n.319+47T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.99428445A>TCA553108838ADH7c.259+47T>A (n.259+47T>A)
c.295+47T>A (n.295+47T>A)
c.88+47T>A (n.88+47T>A)
c.319+47T>A (n.319+47T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428448A>CCA2671525472ADH7c.259+44T>G (n.259+44T>G)
c.295+44T>G (n.295+44T>G)
c.88+44T>G (n.88+44T>G)
c.319+44T>G (n.319+44T>G)
 gnomAD v4
4g.99428449A>CCA2671525473ADH7c.259+43T>G (n.259+43T>G)
c.295+43T>G (n.295+43T>G)
c.88+43T>G (n.88+43T>G)
c.319+43T>G (n.319+43T>G)
 gnomAD v4
4g.99428451G>TCA2671525474ADH7c.259+41C>A (n.259+41C>A)
c.295+41C>A (n.295+41C>A)
c.88+41C>A (n.88+41C>A)
c.319+41C>A (n.319+41C>A)
 gnomAD v4
4g.99428452C>ACA2671525475ADH7c.259+40G>T (n.259+40G>T)
c.295+40G>T (n.295+40G>T)
c.88+40G>T (n.88+40G>T)
c.319+40G>T (n.319+40G>T)
 gnomAD v4
4g.99428452C=CA1480005196ADH7c.259+40G= (n.259+40G=)
c.295+40G= (n.295+40G=)
c.88+40G= (n.88+40G=)
c.319+40G= (n.319+40G=)
4g.99428452C>GCA1065920885ADH7c.259+40G>C (n.259+40G>C)
c.295+40G>C (n.295+40G>C)
c.88+40G>C (n.88+40G>C)
c.319+40G>C (n.319+40G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.99428453C>ACA553108840ADH7c.259+39G>T (n.259+39G>T)
c.295+39G>T (n.295+39G>T)
c.88+39G>T (n.88+39G>T)
c.319+39G>T (n.319+39G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99428453C=CA1480005198ADH7c.259+39G= (n.259+39G=)
c.295+39G= (n.295+39G=)
c.88+39G= (n.88+39G=)
c.319+39G= (n.319+39G=)
4g.99428453C>TCA2671525476ADH7c.259+39G>A (n.259+39G>A)
c.295+39G>A (n.295+39G>A)
c.88+39G>A (n.88+39G>A)
c.319+39G>A (n.319+39G>A)
 gnomAD v4
4g.99428454T>CCA3020891ADH7c.259+38A>G (n.259+38A>G)
c.295+38A>G (n.295+38A>G)
c.88+38A>G (n.88+38A>G)
c.319+38A>G (n.319+38A>G)
 dbSNP ExAC gnomAD v2
4g.99428454T=CA1480005200ADH7c.259+38A= (n.259+38A=)
c.295+38A= (n.295+38A=)
c.88+38A= (n.88+38A=)
c.319+38A= (n.319+38A=)
4g.99428455A=CA1480005201ADH7c.259+37T= (n.259+37T=)
c.295+37T= (n.295+37T=)
c.88+37T= (n.88+37T=)
c.319+37T= (n.319+37T=)
4g.99428455A>GCA553108841ADH7c.259+37T>C (n.259+37T>C)
c.295+37T>C (n.295+37T>C)
c.88+37T>C (n.88+37T>C)
c.319+37T>C (n.319+37T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428457T>GCA102654058ADH7c.259+35A>C (n.259+35A>C)
c.295+35A>C (n.295+35A>C)
c.88+35A>C (n.88+35A>C)
c.319+35A>C (n.319+35A>C)
 dbSNP gnomAD v4
4g.99428457T=CA1480005203ADH7c.259+35A= (n.259+35A=)
c.295+35A= (n.295+35A=)
c.88+35A= (n.88+35A=)
c.319+35A= (n.319+35A=)
4g.99428460T>CCA2671525477ADH7c.259+32A>G (n.259+32A>G)
c.295+32A>G (n.295+32A>G)
c.88+32A>G (n.88+32A>G)
c.319+32A>G (n.319+32A>G)
 gnomAD v4
4g.99428463C=CA1480005208ADH7c.259+29G= (n.259+29G=)
c.295+29G= (n.295+29G=)
c.88+29G= (n.88+29G=)
c.319+29G= (n.319+29G=)
4g.99428463C>GCA3020892ADH7c.259+29G>C (n.259+29G>C)
c.295+29G>C (n.295+29G>C)
c.88+29G>C (n.88+29G>C)
c.319+29G>C (n.319+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428467C=CA1480005210ADH7c.259+25G= (n.259+25G=)
c.295+25G= (n.295+25G=)
c.88+25G= (n.88+25G=)
c.319+25G= (n.319+25G=)
4g.99428467C>TCA102654075ADH7c.259+25G>A (n.259+25G>A)
c.295+25G>A (n.295+25G>A)
c.88+25G>A (n.88+25G>A)
c.319+25G>A (n.319+25G>A)
 dbSNP gnomAD v4
4g.99428468T>CCA553108842ADH7c.259+24A>G (n.259+24A>G)
c.295+24A>G (n.295+24A>G)
c.88+24A>G (n.88+24A>G)
c.319+24A>G (n.319+24A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428468T>GCA2578151683ADH7c.259+24A>C (n.259+24A>C)
c.295+24A>C (n.295+24A>C)
c.88+24A>C (n.88+24A>C)
c.319+24A>C (n.319+24A>C)
4g.99428468T=CA1480005212ADH7c.259+24A= (n.259+24A=)
c.295+24A= (n.295+24A=)
c.88+24A= (n.88+24A=)
c.319+24A= (n.319+24A=)
4g.99428469T>CCA553108844ADH7c.259+23A>G (n.259+23A>G)
c.295+23A>G (n.295+23A>G)
c.88+23A>G (n.88+23A>G)
c.319+23A>G (n.319+23A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.99428469T=CA1480005214ADH7c.259+23A= (n.259+23A=)
c.295+23A= (n.295+23A=)
c.88+23A= (n.88+23A=)
c.319+23A= (n.319+23A=)
4g.99428470G=CA1480005216ADH7c.259+22C= (n.259+22C=)
c.295+22C= (n.295+22C=)
c.88+22C= (n.88+22C=)
c.319+22C= (n.319+22C=)
4g.99428470G>TCA3020893ADH7c.259+22C>A (n.259+22C>A)
c.295+22C>A (n.295+22C>A)
c.88+22C>A (n.88+22C>A)
c.319+22C>A (n.319+22C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428471T>CCA800749030ADH7c.259+21A>G (n.259+21A>G)
c.295+21A>G (n.295+21A>G)
c.88+21A>G (n.88+21A>G)
c.319+21A>G (n.319+21A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99428471T=CA1480005219ADH7c.259+21A= (n.259+21A=)
c.295+21A= (n.295+21A=)
c.88+21A= (n.88+21A=)
c.319+21A= (n.319+21A=)
4g.99428475T>CCA2762806365ADH7c.259+17A>G (n.259+17A>G)
c.295+17A>G (n.295+17A>G)
c.88+17A>G (n.88+17A>G)
c.319+17A>G (n.319+17A>G)
4g.99428475T>GCA2671525478ADH7c.259+17A>C (n.259+17A>C)
c.295+17A>C (n.295+17A>C)
c.88+17A>C (n.88+17A>C)
c.319+17A>C (n.319+17A>C)
 gnomAD v4
4g.99428477G>TCA2671525479ADH7c.259+15C>A (n.259+15C>A)
c.295+15C>A (n.295+15C>A)
c.88+15C>A (n.88+15C>A)
c.319+15C>A (n.319+15C>A)
 gnomAD v4
4g.99428479C>TCA2671525480ADH7c.259+13G>A (n.259+13G>A)
c.295+13G>A (n.295+13G>A)
c.88+13G>A (n.88+13G>A)
c.319+13G>A (n.319+13G>A)
 gnomAD v4
4g.99428480A=CA1480005220ADH7c.259+12T= (n.259+12T=)
c.295+12T= (n.295+12T=)
c.88+12T= (n.88+12T=)
c.319+12T= (n.319+12T=)
4g.99428480A>GCA3020894ADH7c.259+12T>C (n.259+12T>C)
c.295+12T>C (n.295+12T>C)
c.88+12T>C (n.88+12T>C)
c.319+12T>C (n.319+12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428480A>TCA2539196985ADH7c.259+12T>A (n.259+12T>A)
c.295+12T>A (n.295+12T>A)
c.88+12T>A (n.88+12T>A)
c.319+12T>A (n.319+12T>A)
4g.99428481C>ACA553108948ADH7c.259+11G>T (n.259+11G>T)
c.295+11G>T (n.295+11G>T)
c.88+11G>T (n.88+11G>T)
c.319+11G>T (n.319+11G>T)
 dbSNP gnomAD v2
4g.99428481C=CA1480005222ADH7c.259+11G= (n.259+11G=)
c.295+11G= (n.295+11G=)
c.88+11G= (n.88+11G=)
c.319+11G= (n.319+11G=)
4g.99428481C>TCA2671525481ADH7c.259+11G>A (n.259+11G>A)
c.295+11G>A (n.295+11G>A)
c.88+11G>A (n.88+11G>A)
c.319+11G>A (n.319+11G>A)
 gnomAD v4
4g.99428483T>GCA102654078ADH7c.259+9A>C (n.259+9A>C)
c.295+9A>C (n.295+9A>C)
c.88+9A>C (n.88+9A>C)
c.319+9A>C (n.319+9A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428483T=CA1480005226ADH7c.259+9A= (n.259+9A=)
c.295+9A= (n.295+9A=)
c.88+9A= (n.88+9A=)
c.319+9A= (n.319+9A=)
4g.99428484G>ACA2671525482ADH7c.259+8C>T (n.259+8C>T)
c.295+8C>T (n.295+8C>T)
c.88+8C>T (n.88+8C>T)
c.319+8C>T (n.319+8C>T)
 gnomAD v4
4g.99428486A>GCA2671525483ADH7c.259+6T>C (n.259+6T>C)
c.295+6T>C (n.295+6T>C)
c.88+6T>C (n.88+6T>C)
c.319+6T>C (n.319+6T>C)
 gnomAD v4
4g.99428488A>CCA2671525484ADH7c.259+4T>G (n.259+4T>G)
c.295+4T>G (n.295+4T>G)
c.88+4T>G (n.88+4T>G)
c.319+4T>G (n.319+4T>G)
 gnomAD v4
4g.99428488A>GCA2671525485ADH7c.259+4T>C (n.259+4T>C)
c.295+4T>C (n.295+4T>C)
c.88+4T>C (n.88+4T>C)
c.319+4T>C (n.319+4T>C)
 gnomAD v4
4g.99428490A>CCA357498554ADH7c.259+2T>G (n.259+2T>G)
c.295+2T>G (n.295+2T>G)
c.88+2T>G (n.88+2T>G)
c.319+2T>G (n.319+2T>G)
4g.99428490A>GCA357498555ADH7c.259+2T>C (n.259+2T>C)
c.295+2T>C (n.295+2T>C)
c.88+2T>C (n.88+2T>C)
c.319+2T>C (n.319+2T>C)
4g.99428490A>TCA357498556ADH7c.259+2T>A (n.259+2T>A)
c.295+2T>A (n.295+2T>A)
c.88+2T>A (n.88+2T>A)
c.319+2T>A (n.319+2T>A)
4g.99428491C>ACA357498557ADH7c.259+1G>T (n.259+1G>T)
c.295+1G>T (n.295+1G>T)
c.88+1G>T (n.88+1G>T)
c.319+1G>T (n.319+1G>T)
4g.99428491C=CA1480005228ADH7c.259+1G= (n.259+1G=)
c.295+1G= (n.295+1G=)
c.88+1G= (n.88+1G=)
c.319+1G= (n.319+1G=)
4g.99428491C>GCA357498558ADH7c.259+1G>C (n.259+1G>C)
c.295+1G>C (n.295+1G>C)
c.88+1G>C (n.88+1G>C)
c.319+1G>C (n.319+1G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.99428491C>TCA3020895ADH7c.259+1G>A (n.259+1G>A)
c.295+1G>A (n.295+1G>A)
c.88+1G>A (n.88+1G>A)
c.319+1G>A (n.319+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428492C>ACA357498559ADH7c.259G>T (p.Gly87Cys)
c.295G>T (p.Gly99Cys)
c.88G>T (p.Gly30Cys)
c.319G>T (p.Gly107Cys)
4g.99428492C=CA1480005230ADH7c.259G= (p.Gly87=)
c.295G= (p.Gly99=)
c.88G= (p.Gly30=)
c.319G= (p.Gly107=)
4g.99428492C>GCA3020896ADH7c.259G>C (p.Gly87Arg)
c.295G>C (p.Gly99Arg)
c.88G>C (p.Gly30Arg)
c.319G>C (p.Gly107Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428492C>TCA357498560ADH7c.259G>A (p.Gly87Ser)
c.295G>A (p.Gly99Ser)
c.88G>A (p.Gly30Ser)
c.319G>A (p.Gly107Ser)
 dbSNP
4g.99428493T>ACA440318479ADH7c.258A>T (p.Pro86=)
c.294A>T (p.Pro98=)
c.87A>T (p.Pro29=)
c.318A>T (p.Pro106=)
4g.99428493T>CCA440318482ADH7c.258A>G (p.Pro86=)
c.294A>G (p.Pro98=)
c.87A>G (p.Pro29=)
c.318A>G (p.Pro106=)
4g.99428493T>GCA440318484ADH7c.258A>C (p.Pro86=)
c.294A>C (p.Pro98=)
c.87A>C (p.Pro29=)
c.318A>C (p.Pro106=)
4g.99428494G>ACA357498561ADH7c.257C>T (p.Pro86Leu)
c.293C>T (p.Pro98Leu)
c.86C>T (p.Pro29Leu)
c.317C>T (p.Pro106Leu)
4g.99428494G>CCA357498562ADH7c.257C>G (p.Pro86Arg)
c.293C>G (p.Pro98Arg)
c.86C>G (p.Pro29Arg)
c.317C>G (p.Pro106Arg)
4g.99428494G=CA1480005234ADH7c.257C= (p.Pro86=)
c.293C= (p.Pro98=)
c.86C= (p.Pro29=)
c.317C= (p.Pro106=)
4g.99428494G>TCA357498563ADH7c.257C>A (p.Pro86Gln)
c.293C>A (p.Pro98Gln)
c.86C>A (p.Pro29Gln)
c.317C>A (p.Pro106Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428495G>ACA102654114ADH7c.256C>T (p.Pro86Ser)
c.292C>T (p.Pro98Ser)
c.85C>T (p.Pro29Ser)
c.316C>T (p.Pro106Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.99428495G>CCA357498565ADH7c.256C>G (p.Pro86Ala)
c.292C>G (p.Pro98Ala)
c.85C>G (p.Pro29Ala)
c.316C>G (p.Pro106Ala)
4g.99428495G=CA1480005236ADH7c.256C= (p.Pro86=)
c.292C= (p.Pro98=)
c.85C= (p.Pro29=)
c.316C= (p.Pro106=)
4g.99428495G>TCA357498564ADH7c.256C>A (p.Pro86Thr)
c.292C>A (p.Pro98Thr)
c.85C>A (p.Pro29Thr)
c.316C>A (p.Pro106Thr)
 COSMIC COSMIC
4g.99428496T>ACA357498566ADH7c.255A>T (p.Lys85Asn)
c.291A>T (p.Lys97Asn)
c.84A>T (p.Lys28Asn)
c.315A>T (p.Lys105Asn)
4g.99428496T>CCA440318500ADH7c.255A>G (p.Lys85=)
c.291A>G (p.Lys97=)
c.84A>G (p.Lys28=)
c.315A>G (p.Lys105=)
4g.99428496T>GCA357498567ADH7c.255A>C (p.Lys85Asn)
c.291A>C (p.Lys97Asn)
c.84A>C (p.Lys28Asn)
c.315A>C (p.Lys105Asn)
4g.99428497T>ACA357498568ADH7c.254A>T (p.Lys85Ile)
c.290A>T (p.Lys97Ile)
c.83A>T (p.Lys28Ile)
c.314A>T (p.Lys105Ile)
4g.99428497T>CCA357498570ADH7c.254A>G (p.Lys85Arg)
c.290A>G (p.Lys97Arg)
c.83A>G (p.Lys28Arg)
c.314A>G (p.Lys105Arg)
4g.99428497T>GCA357498569ADH7c.254A>C (p.Lys85Thr)
c.290A>C (p.Lys97Thr)
c.83A>C (p.Lys28Thr)
c.314A>C (p.Lys105Thr)
4g.99428498T>ACA357498571ADH7c.253A>T (p.Lys85Ter)
c.289A>T (p.Lys97Ter)
c.82A>T (p.Lys28Ter)
c.313A>T (p.Lys105Ter)
4g.99428498T>CCA357498572ADH7c.253A>G (p.Lys85Glu)
c.289A>G (p.Lys97Glu)
c.82A>G (p.Lys28Glu)
c.313A>G (p.Lys105Glu)
4g.99428498T>GCA357498573ADH7c.253A>C (p.Lys85Gln)
c.289A>C (p.Lys97Gln)
c.82A>C (p.Lys28Gln)
c.313A>C (p.Lys105Gln)
4g.99428499C>ACA440318513ADH7c.252G>T (p.Val84=)
c.288G>T (p.Val96=)
c.81G>T (p.Val27=)
c.312G>T (p.Val104=)
 gnomAD v4
4g.99428499C=CA1480005239ADH7c.252G= (p.Val84=)
c.288G= (p.Val96=)
c.81G= (p.Val27=)
c.312G= (p.Val104=)
4g.99428499C>GCA3020897ADH7c.252G>C (p.Val84=)
c.288G>C (p.Val96=)
c.81G>C (p.Val27=)
c.312G>C (p.Val104=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428499C>TCA440318517ADH7c.252G>A (p.Val84=)
c.288G>A (p.Val96=)
c.81G>A (p.Val27=)
c.312G>A (p.Val104=)
 dbSNP
4g.99428500A>CCA357498574ADH7c.251T>G (p.Val84Gly)
c.287T>G (p.Val96Gly)
c.80T>G (p.Val27Gly)
c.311T>G (p.Val104Gly)
4g.99428500A>GCA357498575ADH7c.251T>C (p.Val84Ala)
c.287T>C (p.Val96Ala)
c.80T>C (p.Val27Ala)
c.311T>C (p.Val104Ala)
 gnomAD v4
4g.99428500A>TCA357498576ADH7c.251T>A (p.Val84Glu)
c.287T>A (p.Val96Glu)
c.80T>A (p.Val27Glu)
c.311T>A (p.Val104Glu)
4g.99428501C>ACA357498577ADH7c.250G>T (p.Val84Leu)
c.286G>T (p.Val96Leu)
c.79G>T (p.Val27Leu)
c.310G>T (p.Val104Leu)
4g.99428501C=CA1480005244ADH7c.250G= (p.Val84=)
c.286G= (p.Val96=)
c.79G= (p.Val27=)
c.310G= (p.Val104=)
4g.99428501C>GCA357498578ADH7c.250G>C (p.Val84Leu)
c.286G>C (p.Val96Leu)
c.79G>C (p.Val27Leu)
c.310G>C (p.Val104Leu)
4g.99428501C>TCA357498579ADH7c.250G>A (p.Val84Met)
c.286G>A (p.Val96Met)
c.79G>A (p.Val27Met)
c.310G>A (p.Val104Met)
 dbSNP gnomAD v4
4g.99428502T>ACA440318530ADH7c.249A>T (p.Thr83=)
c.285A>T (p.Thr95=)
c.78A>T (p.Thr26=)
c.309A>T (p.Thr103=)
4g.99428502T>CCA440318532ADH7c.249A>G (p.Thr83=)
c.285A>G (p.Thr95=)
c.78A>G (p.Thr26=)
c.309A>G (p.Thr103=)
 gnomAD v4
4g.99428502T>GCA440318534ADH7c.249A>C (p.Thr83=)
c.285A>C (p.Thr95=)
c.78A>C (p.Thr26=)
c.309A>C (p.Thr103=)
4g.99428503G>ACA357498582ADH7c.248C>T (p.Thr83Ile)
c.284C>T (p.Thr95Ile)
c.77C>T (p.Thr26Ile)
c.308C>T (p.Thr103Ile)
4g.99428503G>CCA357498581ADH7c.248C>G (p.Thr83Arg)
c.284C>G (p.Thr95Arg)
c.77C>G (p.Thr26Arg)
c.308C>G (p.Thr103Arg)
4g.99428503G>TCA357498580ADH7c.248C>A (p.Thr83Lys)
c.284C>A (p.Thr95Lys)
c.77C>A (p.Thr26Lys)
c.308C>A (p.Thr103Lys)
4g.99428504T>ACA357498583ADH7c.247A>T (p.Thr83Ser)
c.283A>T (p.Thr95Ser)
c.76A>T (p.Thr26Ser)
c.307A>T (p.Thr103Ser)
4g.99428504T>CCA3020898ADH7c.247A>G (p.Thr83Ala)
c.283A>G (p.Thr95Ala)
c.76A>G (p.Thr26Ala)
c.307A>G (p.Thr103Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428504T>GCA357498584ADH7c.247A>C (p.Thr83Pro)
c.283A>C (p.Thr95Pro)
c.76A>C (p.Thr26Pro)
c.307A>C (p.Thr103Pro)
4g.99428504T=CA1480005247ADH7c.247A= (p.Thr83=)
c.283A= (p.Thr95=)
c.76A= (p.Thr26=)
c.307A= (p.Thr103=)
4g.99428505A>CCA440318547ADH7c.246T>G (p.Thr82=)
c.282T>G (p.Thr94=)
c.75T>G (p.Thr25=)
c.306T>G (p.Thr102=)
4g.99428505A>GCA440318548ADH7c.246T>C (p.Thr82=)
c.282T>C (p.Thr94=)
c.75T>C (p.Thr25=)
c.306T>C (p.Thr102=)
4g.99428505A>TCA440318551ADH7c.246T>A (p.Thr82=)
c.282T>A (p.Thr94=)
c.75T>A (p.Thr25=)
c.306T>A (p.Thr102=)
4g.99428506G>ACA357498585ADH7c.245C>T (p.Thr82Ile)
c.281C>T (p.Thr94Ile)
c.74C>T (p.Thr25Ile)
c.305C>T (p.Thr102Ile)
4g.99428506G>CCA357498586ADH7c.245C>G (p.Thr82Ser)
c.281C>G (p.Thr94Ser)
c.74C>G (p.Thr25Ser)
c.305C>G (p.Thr102Ser)
4g.99428506G>TCA357498587ADH7c.245C>A (p.Thr82Asn)
c.281C>A (p.Thr94Asn)
c.74C>A (p.Thr25Asn)
c.305C>A (p.Thr102Asn)
4g.99428507T>ACA357498588ADH7c.244A>T (p.Thr82Ser)
c.280A>T (p.Thr94Ser)
c.73A>T (p.Thr25Ser)
c.304A>T (p.Thr102Ser)
4g.99428507T>CCA357498589ADH7c.244A>G (p.Thr82Ala)
c.280A>G (p.Thr94Ala)
c.73A>G (p.Thr25Ala)
c.304A>G (p.Thr102Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.99428507T>GCA357498590ADH7c.244A>C (p.Thr82Pro)
c.280A>C (p.Thr94Pro)
c.73A>C (p.Thr25Pro)
c.304A>C (p.Thr102Pro)
4g.99428507T=CA1480005250ADH7c.244A= (p.Thr82=)
c.280A= (p.Thr94=)
c.73A= (p.Thr25=)
c.304A= (p.Thr102=)
4g.99428508C>ACA440318565ADH7c.243G>T (p.Val81=)
c.279G>T (p.Val93=)
c.72G>T (p.Val24=)
c.303G>T (p.Val101=)
4g.99428508C>GCA440318570ADH7c.243G>C (p.Val81=)
c.279G>C (p.Val93=)
c.72G>C (p.Val24=)
c.303G>C (p.Val101=)
4g.99428508C>TCA440318567ADH7c.243G>A (p.Val81=)
c.279G>A (p.Val93=)
c.72G>A (p.Val24=)
c.303G>A (p.Val101=)
4g.99428509A>CCA357498591ADH7c.242T>G (p.Val81Gly)
c.278T>G (p.Val93Gly)
c.71T>G (p.Val24Gly)
c.302T>G (p.Val101Gly)
 gnomAD v4
4g.99428509A>GCA357498592ADH7c.242T>C (p.Val81Ala)
c.278T>C (p.Val93Ala)
c.71T>C (p.Val24Ala)
c.302T>C (p.Val101Ala)
4g.99428509A>TCA357498593ADH7c.242T>A (p.Val81Glu)
c.278T>A (p.Val93Glu)
c.71T>A (p.Val24Glu)
c.302T>A (p.Val101Glu)
4g.99428510C>ACA357498594ADH7c.241G>T (p.Val81Leu)
c.277G>T (p.Val93Leu)
c.70G>T (p.Val24Leu)
c.301G>T (p.Val101Leu)
 gnomAD v4
4g.99428510C=CA1480005253ADH7c.241G= (p.Val81=)
c.277G= (p.Val93=)
c.70G= (p.Val24=)
c.301G= (p.Val101=)
4g.99428510C>GCA357498595ADH7c.241G>C (p.Val81Leu)
c.277G>C (p.Val93Leu)
c.70G>C (p.Val24Leu)
c.301G>C (p.Val101Leu)
4g.99428510C>TCA3020899ADH7c.241G>A (p.Val81Met)
c.277G>A (p.Val93Met)
c.70G>A (p.Val24Met)
c.301G>A (p.Val101Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428511T>ACA440318583ADH7c.240A>T (p.Gly80=)
c.276A>T (p.Gly92=)
c.69A>T (p.Gly23=)
c.300A>T (p.Gly100=)
4g.99428511T>CCA440318585ADH7c.240A>G (p.Gly80=)
c.276A>G (p.Gly92=)
c.69A>G (p.Gly23=)
c.300A>G (p.Gly100=)
4g.99428511T>GCA440318588ADH7c.240A>C (p.Gly80=)
c.276A>C (p.Gly92=)
c.69A>C (p.Gly23=)
c.300A>C (p.Gly100=)
4g.99428512C>ACA357498596ADH7c.239G>T (p.Gly80Val)
c.275G>T (p.Gly92Val)
c.68G>T (p.Gly23Val)
c.299G>T (p.Gly100Val)
 gnomAD v4
4g.99428512C=CA1480005262ADH7c.239G= (p.Gly80=)
c.275G= (p.Gly92=)
c.68G= (p.Gly23=)
c.299G= (p.Gly100=)
4g.99428512C>GCA3020900ADH7c.239G>C (p.Gly80Ala)
c.275G>C (p.Gly92Ala)
c.68G>C (p.Gly23Ala)
c.299G>C (p.Gly100Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428512C>TCA357498597ADH7c.239G>A (p.Gly80Glu)
c.275G>A (p.Gly92Glu)
c.68G>A (p.Gly23Glu)
c.299G>A (p.Gly100Glu)
4g.99428512_99428515delinsCCTTCA1480005260ADH7c.236_239delinsAAGG (p.Glu79=)
c.272_275delinsAAGG (p.Glu91=)
c.65_68delinsAAGG (p.Glu22=)
c.296_299delinsAAGG (p.Glu99=)
4g.99428513C>ACA357498598ADH7c.238G>T (p.Gly80Ter)
c.274G>T (p.Gly92Ter)
c.67G>T (p.Gly23Ter)
c.298G>T (p.Gly100Ter)
4g.99428513C=CA1480005270ADH7c.238G= (p.Gly80=)
c.274G= (p.Gly92=)
c.67G= (p.Gly23=)
c.298G= (p.Gly100=)
4g.99428513C>GCA357498599ADH7c.238G>C (p.Gly80Arg)
c.274G>C (p.Gly92Arg)
c.67G>C (p.Gly23Arg)
c.298G>C (p.Gly100Arg)
4g.99428513C>TCA102654159ADH7c.238G>A (p.Gly80Arg)
c.274G>A (p.Gly92Arg)
c.67G>A (p.Gly23Arg)
c.298G>A (p.Gly100Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.99428513_99428515delinsGCA917262550ADH7c.236_238delinsC (p.Glu79AlafsTer9)
c.272_274delinsC (p.Glu91AlafsTer9)
c.65_67delinsC (p.Glu22AlafsTer9)
c.296_298delinsC (p.Glu99AlafsTer9)
 dbSNP
4g.99428515_99428517delCA3020901ADH7c.236_238del (p.Glu79del)
c.272_274del (p.Glu91del)
c.65_67del (p.Glu22del)
c.296_298del (p.Glu99del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428514T>ACA357498600ADH7c.237A>T (p.Glu79Asp)
c.273A>T (p.Glu91Asp)
c.66A>T (p.Glu22Asp)
c.297A>T (p.Glu99Asp)
4g.99428514T>CCA440318611ADH7c.237A>G (p.Glu79=)
c.273A>G (p.Glu91=)
c.66A>G (p.Glu22=)
c.297A>G (p.Glu99=)
4g.99428514T>GCA357498601ADH7c.237A>C (p.Glu79Asp)
c.273A>C (p.Glu91Asp)
c.66A>C (p.Glu22Asp)
c.297A>C (p.Glu99Asp)
4g.99428515T>ACA357498602ADH7c.236A>T (p.Glu79Val)
c.272A>T (p.Glu91Val)
c.65A>T (p.Glu22Val)
c.296A>T (p.Glu99Val)
4g.99428515T>CCA357498603ADH7c.236A>G (p.Glu79Gly)
c.272A>G (p.Glu91Gly)
c.65A>G (p.Glu22Gly)
c.296A>G (p.Glu99Gly)
4g.99428515T>GCA357498604ADH7c.236A>C (p.Glu79Ala)
c.272A>C (p.Glu91Ala)
c.65A>C (p.Glu22Ala)
c.296A>C (p.Glu99Ala)
4g.99428516C>ACA357498607ADH7c.235G>T (p.Glu79Ter)
c.271G>T (p.Glu91Ter)
c.64G>T (p.Glu22Ter)
c.295G>T (p.Glu99Ter)
4g.99428516C>GCA357498606ADH7c.235G>C (p.Glu79Gln)
c.271G>C (p.Glu91Gln)
c.64G>C (p.Glu22Gln)
c.295G>C (p.Glu99Gln)
4g.99428516C>TCA357498605ADH7c.235G>A (p.Glu79Lys)
c.271G>A (p.Glu91Lys)
c.64G>A (p.Glu22Lys)
c.295G>A (p.Glu99Lys)
 gnomAD v4
4g.99428517T>ACA440318626ADH7c.234A>T (p.Gly78=)
c.270A>T (p.Gly90=)
c.63A>T (p.Gly21=)
c.294A>T (p.Gly98=)
4g.99428517T>CCA440318630ADH7c.234A>G (p.Gly78=)
c.270A>G (p.Gly90=)
c.63A>G (p.Gly21=)
c.294A>G (p.Gly98=)
 dbSNP gnomAD v3 gnomAD v4
4g.99428517T>GCA440318627ADH7c.234A>C (p.Gly78=)
c.270A>C (p.Gly90=)
c.63A>C (p.Gly21=)
c.294A>C (p.Gly98=)
4g.99428517T=CA1480005272ADH7c.234A= (p.Gly78=)
c.270A= (p.Gly90=)
c.63A= (p.Gly21=)
c.294A= (p.Gly98=)
4g.99428518C>ACA357498608ADH7c.233G>T (p.Gly78Val)
c.269G>T (p.Gly90Val)
c.62G>T (p.Gly21Val)
c.293G>T (p.Gly98Val)
4g.99428518C>GCA357498609ADH7c.233G>C (p.Gly78Ala)
c.269G>C (p.Gly90Ala)
c.62G>C (p.Gly21Ala)
c.293G>C (p.Gly98Ala)
4g.99428518C>TCA357498610ADH7c.233G>A (p.Gly78Glu)
c.269G>A (p.Gly90Glu)
c.62G>A (p.Gly21Glu)
c.293G>A (p.Gly98Glu)
4g.99428519C>ACA357498611ADH7c.232G>T (p.Gly78Ter)
c.268G>T (p.Gly90Ter)
c.61G>T (p.Gly21Ter)
c.292G>T (p.Gly98Ter)
4g.99428519C>GCA357498612ADH7c.232G>C (p.Gly78Arg)
c.268G>C (p.Gly90Arg)
c.61G>C (p.Gly21Arg)
c.292G>C (p.Gly98Arg)
4g.99428519C>TCA357498613ADH7c.232G>A (p.Gly78Arg)
c.268G>A (p.Gly90Arg)
c.61G>A (p.Gly21Arg)
c.292G>A (p.Gly98Arg)
 gnomAD v4
4g.99428520A=CA1480005276ADH7c.231T= (p.Ile77=)
c.267T= (p.Ile89=)
c.60T= (p.Ile20=)
c.291T= (p.Ile97=)
4g.99428520A>CCA357498614ADH7c.231T>G (p.Ile77Met)
c.267T>G (p.Ile89Met)
c.60T>G (p.Ile20Met)
c.291T>G (p.Ile97Met)
4g.99428520A>GCA440318645ADH7c.231T>C (p.Ile77=)
c.267T>C (p.Ile89=)
c.60T>C (p.Ile20=)
c.291T>C (p.Ile97=)
 dbSNP
4g.99428520A>TCA440318647ADH7c.231T>A (p.Ile77=)
c.267T>A (p.Ile89=)
c.60T>A (p.Ile20=)
c.291T>A (p.Ile97=)
 gnomAD v4

Number of alleles fetched