Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
4g.99428521A=CA1480005280ADH7c.230T= (p.Ile77=)
c.266T= (p.Ile89=)
c.59T= (p.Ile20=)
c.290T= (p.Ile97=)
4g.99428521A>CCA357498615ADH7c.230T>G (p.Ile77Ser)
c.266T>G (p.Ile89Ser)
c.59T>G (p.Ile20Ser)
c.290T>G (p.Ile97Ser)
4g.99428521A>GCA3020902ADH7c.230T>C (p.Ile77Thr)
c.266T>C (p.Ile89Thr)
c.59T>C (p.Ile20Thr)
c.290T>C (p.Ile97Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428521A>TCA357498616ADH7c.230T>A (p.Ile77Asn)
c.266T>A (p.Ile89Asn)
c.59T>A (p.Ile20Asn)
c.290T>A (p.Ile97Asn)
4g.99428522T>ACA357498617ADH7c.229A>T (p.Ile77Phe)
c.265A>T (p.Ile89Phe)
c.58A>T (p.Ile20Phe)
c.289A>T (p.Ile97Phe)
 gnomAD v4
4g.99428522T>CCA357498618ADH7c.229A>G (p.Ile77Val)
c.265A>G (p.Ile89Val)
c.58A>G (p.Ile20Val)
c.289A>G (p.Ile97Val)
 COSMIC COSMIC
4g.99428522T>GCA357498619ADH7c.229A>C (p.Ile77Leu)
c.265A>C (p.Ile89Leu)
c.58A>C (p.Ile20Leu)
c.289A>C (p.Ile97Leu)
4g.99428523G>ACA440318662ADH7c.228C>T (p.Ser76=)
c.264C>T (p.Ser88=)
c.57C>T (p.Ser19=)
c.288C>T (p.Ser96=)
 dbSNP gnomAD v3 gnomAD v4
4g.99428523G>CCA357498621ADH7c.228C>G (p.Ser76Arg)
c.264C>G (p.Ser88Arg)
c.57C>G (p.Ser19Arg)
c.288C>G (p.Ser96Arg)
4g.99428523G=CA1480005282ADH7c.228C= (p.Ser76=)
c.264C= (p.Ser88=)
c.57C= (p.Ser19=)
c.288C= (p.Ser96=)
4g.99428523G>TCA357498620ADH7c.228C>A (p.Ser76Arg)
c.264C>A (p.Ser88Arg)
c.57C>A (p.Ser19Arg)
c.288C>A (p.Ser96Arg)
4g.99428524C>ACA357498622ADH7c.227G>T (p.Ser76Ile)
c.263G>T (p.Ser88Ile)
c.56G>T (p.Ser19Ile)
c.287G>T (p.Ser96Ile)
4g.99428524C=CA1480005284ADH7c.227G= (p.Ser76=)
c.263G= (p.Ser88=)
c.56G= (p.Ser19=)
c.287G= (p.Ser96=)
4g.99428524C>GCA357498623ADH7c.227G>C (p.Ser76Thr)
c.263G>C (p.Ser88Thr)
c.56G>C (p.Ser19Thr)
c.287G>C (p.Ser96Thr)
4g.99428524C>TCA357498624ADH7c.227G>A (p.Ser76Asn)
c.263G>A (p.Ser88Asn)
c.56G>A (p.Ser19Asn)
c.287G>A (p.Ser96Asn)
 dbSNP gnomAD v4
4g.99428525T>ACA357498625ADH7c.226A>T (p.Ser76Cys)
c.262A>T (p.Ser88Cys)
c.55A>T (p.Ser19Cys)
c.286A>T (p.Ser96Cys)
4g.99428525T>CCA357498626ADH7c.226A>G (p.Ser76Gly)
c.262A>G (p.Ser88Gly)
c.55A>G (p.Ser19Gly)
c.286A>G (p.Ser96Gly)
4g.99428525T>GCA357498627ADH7c.226A>C (p.Ser76Arg)
c.262A>C (p.Ser88Arg)
c.55A>C (p.Ser19Arg)
c.286A>C (p.Ser96Arg)
4g.99428526C>ACA357498629ADH7c.225G>T (p.Glu75Asp)
c.261G>T (p.Glu87Asp)
c.54G>T (p.Glu18Asp)
c.285G>T (p.Glu95Asp)
4g.99428526C>GCA357498628ADH7c.225G>C (p.Glu75Asp)
c.261G>C (p.Glu87Asp)
c.54G>C (p.Glu18Asp)
c.285G>C (p.Glu95Asp)
 gnomAD v4
4g.99428526C>TCA440318681ADH7c.225G>A (p.Glu75=)
c.261G>A (p.Glu87=)
c.54G>A (p.Glu18=)
c.285G>A (p.Glu95=)
 gnomAD v4
4g.99428527T>ACA357498630ADH7c.224A>T (p.Glu75Val)
c.260A>T (p.Glu87Val)
c.53A>T (p.Glu18Val)
c.284A>T (p.Glu95Val)
4g.99428527T>CCA357498631ADH7c.224A>G (p.Glu75Gly)
c.260A>G (p.Glu87Gly)
c.53A>G (p.Glu18Gly)
c.284A>G (p.Glu95Gly)
4g.99428527T>GCA357498632ADH7c.224A>C (p.Glu75Ala)
c.260A>C (p.Glu87Ala)
c.53A>C (p.Glu18Ala)
c.284A>C (p.Glu95Ala)
4g.99428528C>ACA357498633ADH7c.223G>T (p.Glu75Ter)
c.259G>T (p.Glu87Ter)
c.52G>T (p.Glu18Ter)
c.283G>T (p.Glu95Ter)
4g.99428528C>GCA357498634ADH7c.223G>C (p.Glu75Gln)
c.259G>C (p.Glu87Gln)
c.52G>C (p.Glu18Gln)
c.283G>C (p.Glu95Gln)
 gnomAD v4
4g.99428528C>TCA357498635ADH7c.223G>A (p.Glu75Lys)
c.259G>A (p.Glu87Lys)
c.52G>A (p.Glu18Lys)
c.283G>A (p.Glu95Lys)
 gnomAD v4
4g.99428529T>ACA440318696ADH7c.222A>T (p.Val74=)
c.258A>T (p.Val86=)
c.51A>T (p.Val17=)
c.282A>T (p.Val94=)
4g.99428529T>CCA440318698ADH7c.222A>G (p.Val74=)
c.258A>G (p.Val86=)
c.51A>G (p.Val17=)
c.282A>G (p.Val94=)
4g.99428529T>GCA440318701ADH7c.222A>C (p.Val74=)
c.258A>C (p.Val86=)
c.51A>C (p.Val17=)
c.282A>C (p.Val94=)
 gnomAD v4
4g.99428530A>CCA357498638ADH7c.221T>G (p.Val74Gly)
c.257T>G (p.Val86Gly)
c.50T>G (p.Val17Gly)
c.281T>G (p.Val94Gly)
4g.99428530A>GCA357498636ADH7c.221T>C (p.Val74Ala)
c.257T>C (p.Val86Ala)
c.50T>C (p.Val17Ala)
c.281T>C (p.Val94Ala)
4g.99428530A>TCA357498637ADH7c.221T>A (p.Val74Glu)
c.257T>A (p.Val86Glu)
c.50T>A (p.Val17Glu)
c.281T>A (p.Val94Glu)
 ClinVar
4g.99428531C>ACA357498639ADH7c.220G>T (p.Val74Leu)
c.256G>T (p.Val86Leu)
c.49G>T (p.Val17Leu)
c.280G>T (p.Val94Leu)
4g.99428531C>GCA357498640ADH7c.220G>C (p.Val74Leu)
c.256G>C (p.Val86Leu)
c.49G>C (p.Val17Leu)
c.280G>C (p.Val94Leu)
4g.99428531C>TCA357498641ADH7c.220G>A (p.Val74Ile)
c.256G>A (p.Val86Ile)
c.49G>A (p.Val17Ile)
c.280G>A (p.Val94Ile)
 gnomAD v4
4g.99428532A>CCA357498642ADH7c.219T>G (p.Ile73Met)
c.255T>G (p.Ile85Met)
c.48T>G (p.Ile16Met)
c.279T>G (p.Ile93Met)
4g.99428532A>GCA440318714ADH7c.219T>C (p.Ile73=)
c.255T>C (p.Ile85=)
c.48T>C (p.Ile16=)
c.279T>C (p.Ile93=)
4g.99428532A>TCA440318717ADH7c.219T>A (p.Ile73=)
c.255T>A (p.Ile85=)
c.48T>A (p.Ile16=)
c.279T>A (p.Ile93=)
4g.99428533A=CA1480005287ADH7c.218T= (p.Ile73=)
c.254T= (p.Ile85=)
c.47T= (p.Ile16=)
c.278T= (p.Ile93=)
4g.99428533A>CCA357498643ADH7c.218T>G (p.Ile73Ser)
c.254T>G (p.Ile85Ser)
c.47T>G (p.Ile16Ser)
c.278T>G (p.Ile93Ser)
4g.99428533A>GCA3020903ADH7c.218T>C (p.Ile73Thr)
c.254T>C (p.Ile85Thr)
c.47T>C (p.Ile16Thr)
c.278T>C (p.Ile93Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428533A>TCA357498644ADH7c.218T>A (p.Ile73Asn)
c.254T>A (p.Ile85Asn)
c.47T>A (p.Ile16Asn)
c.278T>A (p.Ile93Asn)
4g.99428534T>ACA357498645ADH7c.217A>T (p.Ile73Phe)
c.253A>T (p.Ile85Phe)
c.46A>T (p.Ile16Phe)
c.277A>T (p.Ile93Phe)
4g.99428534T>CCA357498646ADH7c.217A>G (p.Ile73Val)
c.253A>G (p.Ile85Val)
c.46A>G (p.Ile16Val)
c.277A>G (p.Ile93Val)
4g.99428534T>GCA357498647ADH7c.217A>C (p.Ile73Leu)
c.253A>C (p.Ile85Leu)
c.46A>C (p.Ile16Leu)
c.277A>C (p.Ile93Leu)
4g.99428535C>ACA440318735ADH7c.216G>T (p.Gly72=)
c.252G>T (p.Gly84=)
c.45G>T (p.Gly15=)
c.276G>T (p.Gly92=)
4g.99428535C>GCA440318733ADH7c.216G>C (p.Gly72=)
c.252G>C (p.Gly84=)
c.45G>C (p.Gly15=)
c.276G>C (p.Gly92=)
 gnomAD v4
4g.99428535C>TCA440318730ADH7c.216G>A (p.Gly72=)
c.252G>A (p.Gly84=)
c.45G>A (p.Gly15=)
c.276G>A (p.Gly92=)
4g.99428536C>ACA357498648ADH7c.215G>T (p.Gly72Val)
c.251G>T (p.Gly84Val)
c.44G>T (p.Gly15Val)
c.275G>T (p.Gly92Val)
4g.99428536C>GCA357498649ADH7c.215G>C (p.Gly72Ala)
c.251G>C (p.Gly84Ala)
c.44G>C (p.Gly15Ala)
c.275G>C (p.Gly92Ala)
4g.99428536C>TCA357498650ADH7c.215G>A (p.Gly72Glu)
c.251G>A (p.Gly84Glu)
c.44G>A (p.Gly15Glu)
c.275G>A (p.Gly92Glu)
4g.99428537C>ACA357498653ADH7c.214G>T (p.Gly72Trp)
c.250G>T (p.Gly84Trp)
c.43G>T (p.Gly15Trp)
c.274G>T (p.Gly92Trp)
4g.99428537C=CA1480005289ADH7c.214G= (p.Gly72=)
c.250G= (p.Gly84=)
c.43G= (p.Gly15=)
c.274G= (p.Gly92=)
4g.99428537C>GCA357498651ADH7c.214G>C (p.Gly72Arg)
c.250G>C (p.Gly84Arg)
c.43G>C (p.Gly15Arg)
c.274G>C (p.Gly92Arg)
4g.99428537C>TCA357498652ADH7c.214G>A (p.Gly72Arg)
c.250G>A (p.Gly84Arg)
c.43G>A (p.Gly15Arg)
c.274G>A (p.Gly92Arg)
4g.99428538A=CA1480005293ADH7c.213T= (p.Thr71=)
c.249T= (p.Thr83=)
c.42T= (p.Thr14=)
c.273T= (p.Thr91=)
4g.99428538A>CCA440318747ADH7c.213T>G (p.Thr71=)
c.249T>G (p.Thr83=)
c.42T>G (p.Thr14=)
c.273T>G (p.Thr91=)
4g.99428538A>GCA440318749ADH7c.213T>C (p.Thr71=)
c.249T>C (p.Thr83=)
c.42T>C (p.Thr14=)
c.273T>C (p.Thr91=)
4g.99428538A>TCA102654174ADH7c.213T>A (p.Thr71=)
c.249T>A (p.Thr83=)
c.42T>A (p.Thr14=)
c.273T>A (p.Thr91=)
 dbSNP gnomAD v3 gnomAD v4
4g.99428538dupCA1065920908ADH7c.213dup (p.Gly72TrpfsTer17)
c.249dup (p.Gly84TrpfsTer17)
c.42dup (p.Gly15TrpfsTer17)
c.273dup (p.Gly92TrpfsTer17)
 dbSNP gnomAD v3 gnomAD v4
4g.99428539G>ACA357498654ADH7c.212C>T (p.Thr71Ile)
c.248C>T (p.Thr83Ile)
c.41C>T (p.Thr14Ile)
c.272C>T (p.Thr91Ile)
 gnomAD v4
4g.99428539G>CCA357498655ADH7c.212C>G (p.Thr71Ser)
c.248C>G (p.Thr83Ser)
c.41C>G (p.Thr14Ser)
c.272C>G (p.Thr91Ser)
 gnomAD v4
4g.99428539G>TCA357498656ADH7c.212C>A (p.Thr71Asn)
c.248C>A (p.Thr83Asn)
c.41C>A (p.Thr14Asn)
c.272C>A (p.Thr91Asn)
4g.99428540T>ACA357498657ADH7c.211A>T (p.Thr71Ser)
c.247A>T (p.Thr83Ser)
c.40A>T (p.Thr14Ser)
c.271A>T (p.Thr91Ser)
4g.99428540T>CCA357498658ADH7c.211A>G (p.Thr71Ala)
c.247A>G (p.Thr83Ala)
c.40A>G (p.Thr14Ala)
c.271A>G (p.Thr91Ala)
4g.99428540T>GCA357498659ADH7c.211A>C (p.Thr71Pro)
c.247A>C (p.Thr83Pro)
c.40A>C (p.Thr14Pro)
c.271A>C (p.Thr91Pro)

Number of alleles fetched