Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99420609A=CA1479994114ADH7c.749T= (p.Ile250=)
c.785T= (p.Ile262=)
c.809T= (p.Ile270=)
c.578T= (p.Ile193=)
4g.99420609A>CCA357497508ADH7c.749T>G (p.Ile250Ser)
c.785T>G (p.Ile262Ser)
c.809T>G (p.Ile270Ser)
c.578T>G (p.Ile193Ser)
4g.99420609A>GCA3020735ADH7c.749T>C (p.Ile250Thr)
c.785T>C (p.Ile262Thr)
c.809T>C (p.Ile270Thr)
c.578T>C (p.Ile193Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420609A>TCA357497509ADH7c.749T>A (p.Ile250Asn)
c.785T>A (p.Ile262Asn)
c.809T>A (p.Ile270Asn)
c.578T>A (p.Ile193Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.99420610T>ACA357497510ADH7c.748A>T (p.Ile250Phe)
c.784A>T (p.Ile262Phe)
c.808A>T (p.Ile270Phe)
c.577A>T (p.Ile193Phe)
4g.99420610T>CCA357497511ADH7c.748A>G (p.Ile250Val)
c.784A>G (p.Ile262Val)
c.808A>G (p.Ile270Val)
c.577A>G (p.Ile193Val)
 gnomAD v4
4g.99420610T>GCA357497512ADH7c.748A>C (p.Ile250Leu)
c.784A>C (p.Ile262Leu)
c.808A>C (p.Ile270Leu)
c.577A>C (p.Ile193Leu)
4g.99420611G>ACA440506400ADH7c.747C>T (p.Pro249=)
c.783C>T (p.Pro261=)
c.807C>T (p.Pro269=)
c.576C>T (p.Pro192=)
4g.99420611G>CCA440506401ADH7c.747C>G (p.Pro249=)
c.783C>G (p.Pro261=)
c.807C>G (p.Pro269=)
c.576C>G (p.Pro192=)
4g.99420611G>TCA440506402ADH7c.747C>A (p.Pro249=)
c.783C>A (p.Pro261=)
c.807C>A (p.Pro269=)
c.576C>A (p.Pro192=)
4g.99420612G>ACA357497515ADH7c.746C>T (p.Pro249Leu)
c.782C>T (p.Pro261Leu)
c.806C>T (p.Pro269Leu)
c.575C>T (p.Pro192Leu)
4g.99420612G>CCA357497514ADH7c.746C>G (p.Pro249Arg)
c.782C>G (p.Pro261Arg)
c.806C>G (p.Pro269Arg)
c.575C>G (p.Pro192Arg)
4g.99420612G>TCA357497513ADH7c.746C>A (p.Pro249His)
c.782C>A (p.Pro261His)
c.806C>A (p.Pro269His)
c.575C>A (p.Pro192His)
4g.99420613G>ACA357497516ADH7c.745C>T (p.Pro249Ser)
c.781C>T (p.Pro261Ser)
c.805C>T (p.Pro269Ser)
c.574C>T (p.Pro192Ser)
 dbSNP gnomAD v4
4g.99420613G>CCA357497518ADH7c.745C>G (p.Pro249Ala)
c.781C>G (p.Pro261Ala)
c.805C>G (p.Pro269Ala)
c.574C>G (p.Pro192Ala)
4g.99420613G=CA1479994118ADH7c.745C= (p.Pro249=)
c.781C= (p.Pro261=)
c.805C= (p.Pro269=)
c.574C= (p.Pro192=)
4g.99420613G>TCA357497517ADH7c.745C>A (p.Pro249Thr)
c.781C>A (p.Pro261Thr)
c.805C>A (p.Pro269Thr)
c.574C>A (p.Pro192Thr)
4g.99420614T>ACA357497519ADH7c.744A>T (p.Lys248Asn)
c.780A>T (p.Lys260Asn)
c.804A>T (p.Lys268Asn)
c.573A>T (p.Lys191Asn)
4g.99420614T>CCA440506403ADH7c.744A>G (p.Lys248=)
c.780A>G (p.Lys260=)
c.804A>G (p.Lys268=)
c.573A>G (p.Lys191=)
4g.99420614T>GCA357497520ADH7c.744A>C (p.Lys248Asn)
c.780A>C (p.Lys260Asn)
c.804A>C (p.Lys268Asn)
c.573A>C (p.Lys191Asn)
4g.99420615T>ACA357497521ADH7c.743A>T (p.Lys248Ile)
c.779A>T (p.Lys260Ile)
c.803A>T (p.Lys268Ile)
c.572A>T (p.Lys191Ile)
4g.99420615T>CCA357497522ADH7c.743A>G (p.Lys248Arg)
c.779A>G (p.Lys260Arg)
c.803A>G (p.Lys268Arg)
c.572A>G (p.Lys191Arg)
4g.99420615T>GCA357497523ADH7c.743A>C (p.Lys248Thr)
c.779A>C (p.Lys260Thr)
c.803A>C (p.Lys268Thr)
c.572A>C (p.Lys191Thr)
4g.99420619_99420630delCA2671525111ADH7c.732_743del (p.Asp245_Lys248del)
c.768_779del (p.Asp257_Lys260del)
c.792_803del (p.Asp265_Lys268del)
c.561_572del (p.Asp188_Lys191del)
 gnomAD v4
4g.99420616T>ACA357497524ADH7c.742A>T (p.Lys248Ter)
c.778A>T (p.Lys260Ter)
c.802A>T (p.Lys268Ter)
c.571A>T (p.Lys191Ter)
4g.99420616T>CCA357497525ADH7c.742A>G (p.Lys248Glu)
c.778A>G (p.Lys260Glu)
c.802A>G (p.Lys268Glu)
c.571A>G (p.Lys191Glu)
4g.99420616T>GCA357497526ADH7c.742A>C (p.Lys248Gln)
c.778A>C (p.Lys260Gln)
c.802A>C (p.Lys268Gln)
c.571A>C (p.Lys191Gln)
4g.99420617G>ACA440506404ADH7c.741C>T (p.Thr247=)
c.777C>T (p.Thr259=)
c.801C>T (p.Thr267=)
c.570C>T (p.Thr190=)
4g.99420617G>CCA440506405ADH7c.741C>G (p.Thr247=)
c.777C>G (p.Thr259=)
c.801C>G (p.Thr267=)
c.570C>G (p.Thr190=)
4g.99420617G=CA1479994123ADH7c.741C= (p.Thr247=)
c.777C= (p.Thr259=)
c.801C= (p.Thr267=)
c.570C= (p.Thr190=)
4g.99420617G>TCA440506406ADH7c.741C>A (p.Thr247=)
c.777C>A (p.Thr259=)
c.801C>A (p.Thr267=)
c.570C>A (p.Thr190=)
 dbSNP gnomAD v4
4g.99420618G>ACA357497527ADH7c.740C>T (p.Thr247Ile)
c.776C>T (p.Thr259Ile)
c.800C>T (p.Thr267Ile)
c.569C>T (p.Thr190Ile)
 gnomAD v4
4g.99420618G>CCA357497528ADH7c.740C>G (p.Thr247Ser)
c.776C>G (p.Thr259Ser)
c.800C>G (p.Thr267Ser)
c.569C>G (p.Thr190Ser)
4g.99420618G=CA1479994127ADH7c.740C= (p.Thr247=)
c.776C= (p.Thr259=)
c.800C= (p.Thr267=)
c.569C= (p.Thr190=)
4g.99420618G>TCA357497529ADH7c.740C>A (p.Thr247Asn)
c.776C>A (p.Thr259Asn)
c.800C>A (p.Thr267Asn)
c.569C>A (p.Thr190Asn)
 dbSNP
4g.99420619T>ACA357497532ADH7c.739A>T (p.Thr247Ser)
c.775A>T (p.Thr259Ser)
c.799A>T (p.Thr267Ser)
c.568A>T (p.Thr190Ser)
4g.99420619T>CCA357497531ADH7c.739A>G (p.Thr247Ala)
c.775A>G (p.Thr259Ala)
c.799A>G (p.Thr267Ala)
c.568A>G (p.Thr190Ala)
4g.99420619T>GCA357497530ADH7c.739A>C (p.Thr247Pro)
c.775A>C (p.Thr259Pro)
c.799A>C (p.Thr267Pro)
c.568A>C (p.Thr190Pro)
4g.99420620A=CA1479994132ADH7c.738T= (p.Ser246=)
c.774T= (p.Ser258=)
c.798T= (p.Ser266=)
c.567T= (p.Ser189=)
4g.99420620A>CCA440506407ADH7c.738T>G (p.Ser246=)
c.774T>G (p.Ser258=)
c.798T>G (p.Ser266=)
c.567T>G (p.Ser189=)
4g.99420620A>GCA3020736ADH7c.738T>C (p.Ser246=)
c.774T>C (p.Ser258=)
c.798T>C (p.Ser266=)
c.567T>C (p.Ser189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420620A>TCA440506408ADH7c.738T>A (p.Ser246=)
c.774T>A (p.Ser258=)
c.798T>A (p.Ser266=)
c.567T>A (p.Ser189=)
4g.99420621G>ACA102645860ADH7c.737C>T (p.Ser246Phe)
c.773C>T (p.Ser258Phe)
c.797C>T (p.Ser266Phe)
c.566C>T (p.Ser189Phe)
 dbSNP gnomAD v3 gnomAD v4
4g.99420621G>CCA357497533ADH7c.737C>G (p.Ser246Cys)
c.773C>G (p.Ser258Cys)
c.797C>G (p.Ser266Cys)
c.566C>G (p.Ser189Cys)
 gnomAD v4
4g.99420621G=CA1479994135ADH7c.737C= (p.Ser246=)
c.773C= (p.Ser258=)
c.797C= (p.Ser266=)
c.566C= (p.Ser189=)
4g.99420621G>TCA357497534ADH7c.737C>A (p.Ser246Tyr)
c.773C>A (p.Ser258Tyr)
c.797C>A (p.Ser266Tyr)
c.566C>A (p.Ser189Tyr)
4g.99420622A>CCA357497535ADH7c.736T>G (p.Ser246Ala)
c.772T>G (p.Ser258Ala)
c.796T>G (p.Ser266Ala)
c.565T>G (p.Ser189Ala)
4g.99420622A>GCA357497536ADH7c.736T>C (p.Ser246Pro)
c.772T>C (p.Ser258Pro)
c.796T>C (p.Ser266Pro)
c.565T>C (p.Ser189Pro)
 gnomAD v4
4g.99420622A>TCA357497537ADH7c.736T>A (p.Ser246Thr)
c.772T>A (p.Ser258Thr)
c.796T>A (p.Ser266Thr)
c.565T>A (p.Ser189Thr)
4g.99420623G>ACA440506409ADH7c.735C>T (p.Asp245=)
c.771C>T (p.Asp257=)
c.795C>T (p.Asp265=)
c.564C>T (p.Asp188=)
4g.99420623G>CCA357497538ADH7c.735C>G (p.Asp245Glu)
c.771C>G (p.Asp257Glu)
c.795C>G (p.Asp265Glu)
c.564C>G (p.Asp188Glu)
4g.99420623G=CA1479994138ADH7c.735C= (p.Asp245=)
c.771C= (p.Asp257=)
c.795C= (p.Asp265=)
c.564C= (p.Asp188=)
4g.99420623G>TCA3020737ADH7c.735C>A (p.Asp245Glu)
c.771C>A (p.Asp257Glu)
c.795C>A (p.Asp265Glu)
c.564C>A (p.Asp188Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420624T>ACA357497539ADH7c.734A>T (p.Asp245Val)
c.770A>T (p.Asp257Val)
c.794A>T (p.Asp265Val)
c.563A>T (p.Asp188Val)
4g.99420624T>CCA357497540ADH7c.734A>G (p.Asp245Gly)
c.770A>G (p.Asp257Gly)
c.794A>G (p.Asp265Gly)
c.563A>G (p.Asp188Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.99420624T>GCA357497541ADH7c.734A>C (p.Asp245Ala)
c.770A>C (p.Asp257Ala)
c.794A>C (p.Asp265Ala)
c.563A>C (p.Asp188Ala)
4g.99420624T=CA1479994142ADH7c.734A= (p.Asp245=)
c.770A= (p.Asp257=)
c.794A= (p.Asp265=)
c.563A= (p.Asp188=)
4g.99420625C>ACA357497543ADH7c.733G>T (p.Asp245Tyr)
c.769G>T (p.Asp257Tyr)
c.793G>T (p.Asp265Tyr)
c.562G>T (p.Asp188Tyr)
 gnomAD v4
4g.99420625C=CA1479994146ADH7c.733G= (p.Asp245=)
c.769G= (p.Asp257=)
c.793G= (p.Asp265=)
c.562G= (p.Asp188=)
4g.99420625C>GCA357497542ADH7c.733G>C (p.Asp245His)
c.769G>C (p.Asp257His)
c.793G>C (p.Asp265His)
c.562G>C (p.Asp188His)
4g.99420625C>TCA3020738ADH7c.733G>A (p.Asp245Asn)
c.769G>A (p.Asp257Asn)
c.793G>A (p.Asp265Asn)
c.562G>A (p.Asp188Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420626C>ACA357497544ADH7c.732G>T (p.Lys244Asn)
c.768G>T (p.Lys256Asn)
c.792G>T (p.Lys264Asn)
c.561G>T (p.Lys187Asn)
4g.99420626C=CA1479994148ADH7c.732G= (p.Lys244=)
c.768G= (p.Lys256=)
c.792G= (p.Lys264=)
c.561G= (p.Lys187=)
4g.99420626C>GCA357497545ADH7c.732G>C (p.Lys244Asn)
c.768G>C (p.Lys256Asn)
c.792G>C (p.Lys264Asn)
c.561G>C (p.Lys187Asn)
4g.99420626C>TCA102645891ADH7c.732G>A (p.Lys244=)
c.768G>A (p.Lys256=)
c.792G>A (p.Lys264=)
c.561G>A (p.Lys187=)
 dbSNP COSMIC COSMIC
4g.99420627T>ACA357497546ADH7c.731A>T (p.Lys244Met)
c.767A>T (p.Lys256Met)
c.791A>T (p.Lys264Met)
c.560A>T (p.Lys187Met)
4g.99420627T>CCA357497547ADH7c.731A>G (p.Lys244Arg)
c.767A>G (p.Lys256Arg)
c.791A>G (p.Lys264Arg)
c.560A>G (p.Lys187Arg)
 dbSNP gnomAD v4
4g.99420627T>GCA357497548ADH7c.731A>C (p.Lys244Thr)
c.767A>C (p.Lys256Thr)
c.791A>C (p.Lys264Thr)
c.560A>C (p.Lys187Thr)
4g.99420627T=CA1479994152ADH7c.731A= (p.Lys244=)
c.767A= (p.Lys256=)
c.791A= (p.Lys264=)
c.560A= (p.Lys187=)
4g.99420628T>ACA357497549ADH7c.730A>T (p.Lys244Ter)
c.766A>T (p.Lys256Ter)
c.790A>T (p.Lys264Ter)
c.559A>T (p.Lys187Ter)
 gnomAD v4
4g.99420628T>CCA357497550ADH7c.730A>G (p.Lys244Glu)
c.766A>G (p.Lys256Glu)
c.790A>G (p.Lys264Glu)
c.559A>G (p.Lys187Glu)
4g.99420628T>GCA357497551ADH7c.730A>C (p.Lys244Gln)
c.766A>C (p.Lys256Gln)
c.790A>C (p.Lys264Gln)
c.559A>C (p.Lys187Gln)
4g.99420628T=CA1479994154ADH7c.730A= (p.Lys244=)
c.766A= (p.Lys256=)
c.790A= (p.Lys264=)
c.559A= (p.Lys187=)
4g.99420629G>ACA440506410ADH7c.729C>T (p.Pro243=)
c.765C>T (p.Pro255=)
c.789C>T (p.Pro263=)
c.558C>T (p.Pro186=)
4g.99420629G>CCA440506411ADH7c.729C>G (p.Pro243=)
c.765C>G (p.Pro255=)
c.789C>G (p.Pro263=)
c.558C>G (p.Pro186=)
4g.99420629G>TCA440506412ADH7c.729C>A (p.Pro243=)
c.765C>A (p.Pro255=)
c.789C>A (p.Pro263=)
c.558C>A (p.Pro186=)
 COSMIC COSMIC
4g.99420629_99420664dupCA553568164ADH7c.694_729dup (p.Pro243_Lys244insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
c.730_765dup (p.Pro255_Lys256insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
c.754_789dup (p.Pro263_Lys264insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
c.523_558dup (p.Pro186_Lys187insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
 dbSNP gnomAD v2 gnomAD v4
4g.99420630G>ACA3020739ADH7c.728C>T (p.Pro243Leu)
c.764C>T (p.Pro255Leu)
c.788C>T (p.Pro263Leu)
c.557C>T (p.Pro186Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420630G>CCA3020740ADH7c.728C>G (p.Pro243Arg)
c.764C>G (p.Pro255Arg)
c.788C>G (p.Pro263Arg)
c.557C>G (p.Pro186Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420630G=CA1479994160ADH7c.728C= (p.Pro243=)
c.764C= (p.Pro255=)
c.788C= (p.Pro263=)
c.557C= (p.Pro186=)
4g.99420630G>TCA357497552ADH7c.728C>A (p.Pro243His)
c.764C>A (p.Pro255His)
c.788C>A (p.Pro263His)
c.557C>A (p.Pro186His)
4g.99420631G>ACA3020741ADH7c.727C>T (p.Pro243Ser)
c.763C>T (p.Pro255Ser)
c.787C>T (p.Pro263Ser)
c.556C>T (p.Pro186Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.99420631G>CCA357497554ADH7c.727C>G (p.Pro243Ala)
c.763C>G (p.Pro255Ala)
c.787C>G (p.Pro263Ala)
c.556C>G (p.Pro186Ala)
4g.99420631G=CA1479994167ADH7c.727C= (p.Pro243=)
c.763C= (p.Pro255=)
c.787C= (p.Pro263=)
c.556C= (p.Pro186=)
4g.99420631G>TCA357497553ADH7c.727C>A (p.Pro243Thr)
c.763C>A (p.Pro255Thr)
c.787C>A (p.Pro263Thr)
c.556C>A (p.Pro186Thr)
4g.99420632A>CCA357497555ADH7c.726T>G (p.Ser242Arg)
c.762T>G (p.Ser254Arg)
c.786T>G (p.Ser262Arg)
c.555T>G (p.Ser185Arg)
4g.99420632A>GCA440506413ADH7c.726T>C (p.Ser242=)
c.762T>C (p.Ser254=)
c.786T>C (p.Ser262=)
c.555T>C (p.Ser185=)
4g.99420632A>TCA357497556ADH7c.726T>A (p.Ser242Arg)
c.762T>A (p.Ser254Arg)
c.786T>A (p.Ser262Arg)
c.555T>A (p.Ser185Arg)
4g.99420633C>ACA357497557ADH7c.725G>T (p.Ser242Ile)
c.761G>T (p.Ser254Ile)
c.785G>T (p.Ser262Ile)
c.554G>T (p.Ser185Ile)
 COSMIC COSMIC
4g.99420633C>GCA357497558ADH7c.725G>C (p.Ser242Thr)
c.761G>C (p.Ser254Thr)
c.785G>C (p.Ser262Thr)
c.554G>C (p.Ser185Thr)
 gnomAD v4
4g.99420633C>TCA357497559ADH7c.725G>A (p.Ser242Asn)
c.761G>A (p.Ser254Asn)
c.785G>A (p.Ser262Asn)
c.554G>A (p.Ser185Asn)
4g.99420634T>ACA357497560ADH7c.724A>T (p.Ser242Cys)
c.760A>T (p.Ser254Cys)
c.784A>T (p.Ser262Cys)
c.553A>T (p.Ser185Cys)
4g.99420634T>CCA357497561ADH7c.724A>G (p.Ser242Gly)
c.760A>G (p.Ser254Gly)
c.784A>G (p.Ser262Gly)
c.553A>G (p.Ser185Gly)
 dbSNP gnomAD v2
4g.99420634T>GCA357497562ADH7c.724A>C (p.Ser242Arg)
c.760A>C (p.Ser254Arg)
c.784A>C (p.Ser262Arg)
c.553A>C (p.Ser185Arg)
4g.99420634T=CA1479994170ADH7c.724A= (p.Ser242=)
c.760A= (p.Ser254=)
c.784A= (p.Ser262=)
c.553A= (p.Ser185=)
4g.99420635G>ACA440506414ADH7c.723C>T (p.Ile241=)
c.759C>T (p.Ile253=)
c.783C>T (p.Ile261=)
c.552C>T (p.Ile184=)
4g.99420635G>CCA357497563ADH7c.723C>G (p.Ile241Met)
c.759C>G (p.Ile253Met)
c.783C>G (p.Ile261Met)
c.552C>G (p.Ile184Met)
4g.99420635G>TCA440506415ADH7c.723C>A (p.Ile241=)
c.759C>A (p.Ile253=)
c.783C>A (p.Ile261=)
c.552C>A (p.Ile184=)
4g.99420636A=CA1479994175ADH7c.722T= (p.Ile241=)
c.758T= (p.Ile253=)
c.782T= (p.Ile261=)
c.551T= (p.Ile184=)
4g.99420636A>CCA3020742ADH7c.722T>G (p.Ile241Ser)
c.758T>G (p.Ile253Ser)
c.782T>G (p.Ile261Ser)
c.551T>G (p.Ile184Ser)
 dbSNP ExAC gnomAD v2
4g.99420636A>GCA357497564ADH7c.722T>C (p.Ile241Thr)
c.758T>C (p.Ile253Thr)
c.782T>C (p.Ile261Thr)
c.551T>C (p.Ile184Thr)
4g.99420636A>TCA357497565ADH7c.722T>A (p.Ile241Asn)
c.758T>A (p.Ile253Asn)
c.782T>A (p.Ile261Asn)
c.551T>A (p.Ile184Asn)
4g.99420637T>ACA357497568ADH7c.721A>T (p.Ile241Phe)
c.757A>T (p.Ile253Phe)
c.781A>T (p.Ile261Phe)
c.550A>T (p.Ile184Phe)
4g.99420637T>CCA357497567ADH7c.721A>G (p.Ile241Val)
c.757A>G (p.Ile253Val)
c.781A>G (p.Ile261Val)
c.550A>G (p.Ile184Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420637T>GCA357497566ADH7c.721A>C (p.Ile241Leu)
c.757A>C (p.Ile253Leu)
c.781A>C (p.Ile261Leu)
c.550A>C (p.Ile184Leu)
4g.99420637T=CA1479994181ADH7c.721A= (p.Ile241=)
c.757A= (p.Ile253=)
c.781A= (p.Ile261=)
c.550A= (p.Ile184=)
4g.99420638A=CA1479994184ADH7c.720T= (p.Cys240=)
c.756T= (p.Cys252=)
c.780T= (p.Cys260=)
c.549T= (p.Cys183=)
4g.99420638A>CCA357497569ADH7c.720T>G (p.Cys240Trp)
c.756T>G (p.Cys252Trp)
c.780T>G (p.Cys260Trp)
c.549T>G (p.Cys183Trp)
4g.99420638A>GCA440506416ADH7c.720T>C (p.Cys240=)
c.756T>C (p.Cys252=)
c.780T>C (p.Cys260=)
c.549T>C (p.Cys183=)
 dbSNP gnomAD v3 gnomAD v4
4g.99420638A>TCA357497570ADH7c.720T>A (p.Cys240Ter)
c.756T>A (p.Cys252Ter)
c.780T>A (p.Cys260Ter)
c.549T>A (p.Cys183Ter)
4g.99420639C>ACA357497571ADH7c.719G>T (p.Cys240Phe)
c.755G>T (p.Cys252Phe)
c.779G>T (p.Cys260Phe)
c.548G>T (p.Cys183Phe)
 gnomAD v4
4g.99420639C>GCA357497572ADH7c.719G>C (p.Cys240Ser)
c.755G>C (p.Cys252Ser)
c.779G>C (p.Cys260Ser)
c.548G>C (p.Cys183Ser)
4g.99420639C>TCA357497573ADH7c.719G>A (p.Cys240Tyr)
c.755G>A (p.Cys252Tyr)
c.779G>A (p.Cys260Tyr)
c.548G>A (p.Cys183Tyr)
 gnomAD v4
4g.99420640A>CCA357497574ADH7c.718T>G (p.Cys240Gly)
c.754T>G (p.Cys252Gly)
c.778T>G (p.Cys260Gly)
c.547T>G (p.Cys183Gly)
4g.99420640A>GCA357497575ADH7c.718T>C (p.Cys240Arg)
c.754T>C (p.Cys252Arg)
c.778T>C (p.Cys260Arg)
c.547T>C (p.Cys183Arg)
4g.99420640A>TCA357497576ADH7c.718T>A (p.Cys240Ser)
c.754T>A (p.Cys252Ser)
c.778T>A (p.Cys260Ser)
c.547T>A (p.Cys183Ser)
4g.99420641C>ACA102645937ADH7c.717G>T (p.Glu239Asp)
c.753G>T (p.Glu251Asp)
c.777G>T (p.Glu259Asp)
c.546G>T (p.Glu182Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.99420641C=CA1479994189ADH7c.717G= (p.Glu239=)
c.753G= (p.Glu251=)
c.777G= (p.Glu259=)
c.546G= (p.Glu182=)
4g.99420641C>GCA357497577ADH7c.717G>C (p.Glu239Asp)
c.753G>C (p.Glu251Asp)
c.777G>C (p.Glu259Asp)
c.546G>C (p.Glu182Asp)
4g.99420641C>TCA3020743ADH7c.717G>A (p.Glu239=)
c.753G>A (p.Glu251=)
c.777G>A (p.Glu259=)
c.546G>A (p.Glu182=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420642T>ACA3020744ADH7c.716A>T (p.Glu239Val)
c.752A>T (p.Glu251Val)
c.776A>T (p.Glu259Val)
c.545A>T (p.Glu182Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420642T>CCA357497578ADH7c.716A>G (p.Glu239Gly)
c.752A>G (p.Glu251Gly)
c.776A>G (p.Glu259Gly)
c.545A>G (p.Glu182Gly)
4g.99420642T>GCA357497579ADH7c.716A>C (p.Glu239Ala)
c.752A>C (p.Glu251Ala)
c.776A>C (p.Glu259Ala)
c.545A>C (p.Glu182Ala)
4g.99420642T=CA1479994192ADH7c.716A= (p.Glu239=)
c.752A= (p.Glu251=)
c.776A= (p.Glu259=)
c.545A= (p.Glu182=)
4g.99420643C>ACA357497582ADH7c.715G>T (p.Glu239Ter)
c.751G>T (p.Glu251Ter)
c.775G>T (p.Glu259Ter)
c.544G>T (p.Glu182Ter)
4g.99420643C>GCA357497580ADH7c.715G>C (p.Glu239Gln)
c.751G>C (p.Glu251Gln)
c.775G>C (p.Glu259Gln)
c.544G>C (p.Glu182Gln)
4g.99420643C>TCA357497581ADH7c.715G>A (p.Glu239Lys)
c.751G>A (p.Glu251Lys)
c.775G>A (p.Glu259Lys)
c.544G>A (p.Glu182Lys)
4g.99420644A=CA1479994195ADH7c.714T= (p.Thr238=)
c.750T= (p.Thr250=)
c.774T= (p.Thr258=)
c.543T= (p.Thr181=)
4g.99420644A>CCA440506417ADH7c.714T>G (p.Thr238=)
c.750T>G (p.Thr250=)
c.774T>G (p.Thr258=)
c.543T>G (p.Thr181=)
4g.99420644A>GCA440506418ADH7c.714T>C (p.Thr238=)
c.750T>C (p.Thr250=)
c.774T>C (p.Thr258=)
c.543T>C (p.Thr181=)
 dbSNP gnomAD v4
4g.99420644A>TCA440506419ADH7c.714T>A (p.Thr238=)
c.750T>A (p.Thr250=)
c.774T>A (p.Thr258=)
c.543T>A (p.Thr181=)
4g.99420645G>ACA3020745ADH7c.713C>T (p.Thr238Ile)
c.749C>T (p.Thr250Ile)
c.773C>T (p.Thr258Ile)
c.542C>T (p.Thr181Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420645G>CCA357497583ADH7c.713C>G (p.Thr238Ser)
c.749C>G (p.Thr250Ser)
c.773C>G (p.Thr258Ser)
c.542C>G (p.Thr181Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.99420645G=CA1479994197ADH7c.713C= (p.Thr238=)
c.749C= (p.Thr250=)
c.773C= (p.Thr258=)
c.542C= (p.Thr181=)
4g.99420645G>TCA357497584ADH7c.713C>A (p.Thr238Asn)
c.749C>A (p.Thr250Asn)
c.773C>A (p.Thr258Asn)
c.542C>A (p.Thr181Asn)
 gnomAD v4
4g.99420646T>ACA357497585ADH7c.712A>T (p.Thr238Ser)
c.748A>T (p.Thr250Ser)
c.772A>T (p.Thr258Ser)
c.541A>T (p.Thr181Ser)
 gnomAD v4
4g.99420646T>CCA357497586ADH7c.712A>G (p.Thr238Ala)
c.748A>G (p.Thr250Ala)
c.772A>G (p.Thr258Ala)
c.541A>G (p.Thr181Ala)
 gnomAD v4
4g.99420646T>GCA357497587ADH7c.712A>C (p.Thr238Pro)
c.748A>C (p.Thr250Pro)
c.772A>C (p.Thr258Pro)
c.541A>C (p.Thr181Pro)
4g.99420647G>ACA440506422ADH7c.711C>T (p.Ala237=)
c.747C>T (p.Ala249=)
c.771C>T (p.Ala257=)
c.540C>T (p.Ala180=)
4g.99420647G>CCA440506421ADH7c.711C>G (p.Ala237=)
c.747C>G (p.Ala249=)
c.771C>G (p.Ala257=)
c.540C>G (p.Ala180=)
4g.99420647G>TCA440506420ADH7c.711C>A (p.Ala237=)
c.747C>A (p.Ala249=)
c.771C>A (p.Ala257=)
c.540C>A (p.Ala180=)
4g.99420648G>ACA357497588ADH7c.710C>T (p.Ala237Val)
c.746C>T (p.Ala249Val)
c.770C>T (p.Ala257Val)
c.539C>T (p.Ala180Val)
 dbSNP gnomAD v2 gnomAD v4
4g.99420648G>CCA3020746ADH7c.710C>G (p.Ala237Gly)
c.746C>G (p.Ala249Gly)
c.770C>G (p.Ala257Gly)
c.539C>G (p.Ala180Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420648G=CA1479994201ADH7c.710C= (p.Ala237=)
c.746C= (p.Ala249=)
c.770C= (p.Ala257=)
c.539C= (p.Ala180=)
4g.99420648G>TCA357497589ADH7c.710C>A (p.Ala237Asp)
c.746C>A (p.Ala249Asp)
c.770C>A (p.Ala257Asp)
c.539C>A (p.Ala180Asp)
4g.99420649C>ACA357497590ADH7c.709G>T (p.Ala237Ser)
c.745G>T (p.Ala249Ser)
c.769G>T (p.Ala257Ser)
c.538G>T (p.Ala180Ser)
 dbSNP
4g.99420649C=CA1479994203ADH7c.709G= (p.Ala237=)
c.745G= (p.Ala249=)
c.769G= (p.Ala257=)
c.538G= (p.Ala180=)
4g.99420649C>GCA357497591ADH7c.709G>C (p.Ala237Pro)
c.745G>C (p.Ala249Pro)
c.769G>C (p.Ala257Pro)
c.538G>C (p.Ala180Pro)
4g.99420649C>TCA357497592ADH7c.709G>A (p.Ala237Thr)
c.745G>A (p.Ala249Thr)
c.769G>A (p.Ala257Thr)
c.538G>A (p.Ala180Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.99420650A>CCA440506423ADH7c.708T>G (p.Gly236=)
c.744T>G (p.Gly248=)
c.768T>G (p.Gly256=)
c.537T>G (p.Gly179=)
4g.99420650A>GCA440506424ADH7c.708T>C (p.Gly236=)
c.744T>C (p.Gly248=)
c.768T>C (p.Gly256=)
c.537T>C (p.Gly179=)
4g.99420650A>TCA440506425ADH7c.708T>A (p.Gly236=)
c.744T>A (p.Gly248=)
c.768T>A (p.Gly256=)
c.537T>A (p.Gly179=)
4g.99420651C>ACA102645993ADH7c.707G>T (p.Gly236Val)
c.743G>T (p.Gly248Val)
c.767G>T (p.Gly256Val)
c.536G>T (p.Gly179Val)
 dbSNP gnomAD v3 gnomAD v4
4g.99420651C=CA1479994208ADH7c.707G= (p.Gly236=)
c.743G= (p.Gly248=)
c.767G= (p.Gly256=)
c.536G= (p.Gly179=)
4g.99420651C>GCA357497594ADH7c.707G>C (p.Gly236Ala)
c.743G>C (p.Gly248Ala)
c.767G>C (p.Gly256Ala)
c.536G>C (p.Gly179Ala)
4g.99420651C>TCA357497593ADH7c.707G>A (p.Gly236Asp)
c.743G>A (p.Gly248Asp)
c.767G>A (p.Gly256Asp)
c.536G>A (p.Gly179Asp)
 dbSNP
4g.99420652C>ACA357497596ADH7c.706G>T (p.Gly236Cys)
c.742G>T (p.Gly248Cys)
c.766G>T (p.Gly256Cys)
c.535G>T (p.Gly179Cys)
4g.99420652C=CA1479994212ADH7c.706G= (p.Gly236=)
c.742G= (p.Gly248=)
c.766G= (p.Gly256=)
c.535G= (p.Gly179=)
4g.99420652C>GCA357497595ADH7c.706G>C (p.Gly236Arg)
c.742G>C (p.Gly248Arg)
c.766G>C (p.Gly256Arg)
c.535G>C (p.Gly179Arg)
4g.99420652C>TCA102646020ADH7c.706G>A (p.Gly236Ser)
c.742G>A (p.Gly248Ser)
c.766G>A (p.Gly256Ser)
c.535G>A (p.Gly179Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420653T>ACA440506426ADH7c.705A>T (p.Val235=)
c.741A>T (p.Val247=)
c.765A>T (p.Val255=)
c.534A>T (p.Val178=)
4g.99420653T>CCA440506427ADH7c.705A>G (p.Val235=)
c.741A>G (p.Val247=)
c.765A>G (p.Val255=)
c.534A>G (p.Val178=)
 dbSNP gnomAD v3 gnomAD v4
4g.99420653T>GCA440506428ADH7c.705A>C (p.Val235=)
c.741A>C (p.Val247=)
c.765A>C (p.Val255=)
c.534A>C (p.Val178=)
4g.99420653T=CA1479994216ADH7c.705A= (p.Val235=)
c.741A= (p.Val247=)
c.765A= (p.Val255=)
c.534A= (p.Val178=)
4g.99420653dupCA2671525112ADH7c.705dup (p.Gly236ArgfsTer4)
c.741dup (p.Gly248ArgfsTer4)
c.765dup (p.Gly256ArgfsTer4)
c.534dup (p.Gly179ArgfsTer4)
 gnomAD v4
4g.99420654A>CCA357497597ADH7c.704T>G (p.Val235Gly)
c.740T>G (p.Val247Gly)
c.764T>G (p.Val255Gly)
c.533T>G (p.Val178Gly)
4g.99420654A>GCA357497598ADH7c.704T>C (p.Val235Ala)
c.740T>C (p.Val247Ala)
c.764T>C (p.Val255Ala)
c.533T>C (p.Val178Ala)
 gnomAD v4
4g.99420654A>TCA357497599ADH7c.704T>A (p.Val235Glu)
c.740T>A (p.Val247Glu)
c.764T>A (p.Val255Glu)
c.533T>A (p.Val178Glu)
 COSMIC COSMIC
4g.99420654_99420658dupCA1479994219ADH7c.700_704dup (p.Gly236LeufsTer2)
c.736_740dup (p.Gly248LeufsTer2)
c.760_764dup (p.Gly256LeufsTer2)
c.529_533dup (p.Gly179LeufsTer2)
 dbSNP
4g.99420655C>ACA357497602ADH7c.703G>T (p.Val235Leu)
c.739G>T (p.Val247Leu)
c.763G>T (p.Val255Leu)
c.532G>T (p.Val178Leu)
4g.99420655C=CA1479994222ADH7c.703G= (p.Val235=)
c.739G= (p.Val247=)
c.763G= (p.Val255=)
c.532G= (p.Val178=)
4g.99420655C>GCA357497601ADH7c.703G>C (p.Val235Leu)
c.739G>C (p.Val247Leu)
c.763G>C (p.Val255Leu)
c.532G>C (p.Val178Leu)
 dbSNP
4g.99420655C>TCA357497600ADH7c.703G>A (p.Val235Ile)
c.739G>A (p.Val247Ile)
c.763G>A (p.Val255Ile)
c.532G>A (p.Val178Ile)
 gnomAD v4
4g.99420656A=CA1479994226ADH7c.702T= (p.Ala234=)
c.738T= (p.Ala246=)
c.762T= (p.Ala254=)
c.531T= (p.Ala177=)
4g.99420656A>CCA440506429ADH7c.702T>G (p.Ala234=)
c.738T>G (p.Ala246=)
c.762T>G (p.Ala254=)
c.531T>G (p.Ala177=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420656A>GCA440506430ADH7c.702T>C (p.Ala234=)
c.738T>C (p.Ala246=)
c.762T>C (p.Ala254=)
c.531T>C (p.Ala177=)
4g.99420656A>TCA440506431ADH7c.702T>A (p.Ala234=)
c.738T>A (p.Ala246=)
c.762T>A (p.Ala254=)
c.531T>A (p.Ala177=)
4g.99420657G>ACA3020747ADH7c.701C>T (p.Ala234Val)
c.737C>T (p.Ala246Val)
c.761C>T (p.Ala254Val)
c.530C>T (p.Ala177Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420657G>CCA357497603ADH7c.701C>G (p.Ala234Gly)
c.737C>G (p.Ala246Gly)
c.761C>G (p.Ala254Gly)
c.530C>G (p.Ala177Gly)
4g.99420657G=CA1479994231ADH7c.701C= (p.Ala234=)
c.737C= (p.Ala246=)
c.761C= (p.Ala254=)
c.530C= (p.Ala177=)
4g.99420657G>TCA357497604ADH7c.701C>A (p.Ala234Asp)
c.737C>A (p.Ala246Asp)
c.761C>A (p.Ala254Asp)
c.530C>A (p.Ala177Asp)
 dbSNP
4g.99420658C>ACA357497605ADH7c.700G>T (p.Ala234Ser)
c.736G>T (p.Ala246Ser)
c.760G>T (p.Ala254Ser)
c.529G>T (p.Ala177Ser)
 gnomAD v4
4g.99420658C>GCA357497606ADH7c.700G>C (p.Ala234Pro)
c.736G>C (p.Ala246Pro)
c.760G>C (p.Ala254Pro)
c.529G>C (p.Ala177Pro)
4g.99420658C>TCA357497607ADH7c.700G>A (p.Ala234Thr)
c.736G>A (p.Ala246Thr)
c.760G>A (p.Ala254Thr)
c.529G>A (p.Ala177Thr)
 gnomAD v4
4g.99420659C>ACA357497608ADH7c.699G>T (p.Met233Ile)
c.735G>T (p.Met245Ile)
c.759G>T (p.Met253Ile)
c.528G>T (p.Met176Ile)
 gnomAD v4
4g.99420659C=CA1479994234ADH7c.699G= (p.Met233=)
c.735G= (p.Met245=)
c.759G= (p.Met253=)
c.528G= (p.Met176=)
4g.99420659C>GCA357497610ADH7c.699G>C (p.Met233Ile)
c.735G>C (p.Met245Ile)
c.759G>C (p.Met253Ile)
c.528G>C (p.Met176Ile)
4g.99420659C>TCA357497609ADH7c.699G>A (p.Met233Ile)
c.735G>A (p.Met245Ile)
c.759G>A (p.Met253Ile)
c.528G>A (p.Met176Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420660A>CCA357497611ADH7c.698T>G (p.Met233Arg)
c.734T>G (p.Met245Arg)
c.758T>G (p.Met253Arg)
c.527T>G (p.Met176Arg)
4g.99420660A>GCA357497612ADH7c.698T>C (p.Met233Thr)
c.734T>C (p.Met245Thr)
c.758T>C (p.Met253Thr)
c.527T>C (p.Met176Thr)
4g.99420660A>TCA357497613ADH7c.698T>A (p.Met233Lys)
c.734T>A (p.Met245Lys)
c.758T>A (p.Met253Lys)
c.527T>A (p.Met176Lys)
4g.99420661T>ACA357497614ADH7c.697A>T (p.Met233Leu)
c.733A>T (p.Met245Leu)
c.757A>T (p.Met253Leu)
c.526A>T (p.Met176Leu)
4g.99420661T>CCA3020748ADH7c.697A>G (p.Met233Val)
c.733A>G (p.Met245Val)
c.757A>G (p.Met253Val)
c.526A>G (p.Met176Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420661T>GCA357497615ADH7c.697A>C (p.Met233Leu)
c.733A>C (p.Met245Leu)
c.757A>C (p.Met253Leu)
c.526A>C (p.Met176Leu)
4g.99420661T=CA1479994238ADH7c.697A= (p.Met233=)
c.733A= (p.Met245=)
c.757A= (p.Met253=)
c.526A= (p.Met176=)
4g.99420662G>ACA440506432ADH7c.696C>T (p.Ala232=)
c.732C>T (p.Ala244=)
c.756C>T (p.Ala252=)
c.525C>T (p.Ala175=)
4g.99420662G>CCA440506433ADH7c.696C>G (p.Ala232=)
c.732C>G (p.Ala244=)
c.756C>G (p.Ala252=)
c.525C>G (p.Ala175=)
4g.99420662G>TCA440506434ADH7c.696C>A (p.Ala232=)
c.732C>A (p.Ala244=)
c.756C>A (p.Ala252=)
c.525C>A (p.Ala175=)
4g.99420663delCA2671525113ADH7c.696del (p.Met233TrpfsTer3)
c.732del (p.Met245TrpfsTer3)
c.756del (p.Met253TrpfsTer3)
c.525del (p.Met176TrpfsTer3)
 gnomAD v4
4g.99420663G>ACA3020749ADH7c.695C>T (p.Ala232Val)
c.731C>T (p.Ala244Val)
c.755C>T (p.Ala252Val)
c.524C>T (p.Ala175Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420663G>CCA357497616ADH7c.695C>G (p.Ala232Gly)
c.731C>G (p.Ala244Gly)
c.755C>G (p.Ala252Gly)
c.524C>G (p.Ala175Gly)
4g.99420663G=CA1479994241ADH7c.695C= (p.Ala232=)
c.731C= (p.Ala244=)
c.755C= (p.Ala252=)
c.524C= (p.Ala175=)
4g.99420663G>TCA357497617ADH7c.695C>A (p.Ala232Asp)
c.731C>A (p.Ala244Asp)
c.755C>A (p.Ala252Asp)
c.524C>A (p.Ala175Asp)
4g.99420664C>ACA357497618ADH7c.694G>T (p.Ala232Ser)
c.730G>T (p.Ala244Ser)
c.754G>T (p.Ala252Ser)
c.523G>T (p.Ala175Ser)
 COSMIC COSMIC
4g.99420664C=CA1479994247ADH7c.694G= (p.Ala232=)
c.730G= (p.Ala244=)
c.754G= (p.Ala252=)
c.523G= (p.Ala175=)
4g.99420664C>GCA357497619ADH7c.694G>C (p.Ala232Pro)
c.730G>C (p.Ala244Pro)
c.754G>C (p.Ala252Pro)
c.523G>C (p.Ala175Pro)
4g.99420664C>TCA3020750ADH7c.694G>A (p.Ala232Thr)
c.730G>A (p.Ala244Thr)
c.754G>A (p.Ala252Thr)
c.523G>A (p.Ala175Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420665C>ACA357497621ADH7c.693G>T (p.Lys231Asn)
c.729G>T (p.Lys243Asn)
c.753G>T (p.Lys251Asn)
c.522G>T (p.Lys174Asn)
4g.99420665C=CA1479994249ADH7c.693G= (p.Lys231=)
c.729G= (p.Lys243=)
c.753G= (p.Lys251=)
c.522G= (p.Lys174=)
4g.99420665C>GCA357497620ADH7c.693G>C (p.Lys231Asn)
c.729G>C (p.Lys243Asn)
c.753G>C (p.Lys251Asn)
c.522G>C (p.Lys174Asn)
4g.99420665C>TCA3020751ADH7c.693G>A (p.Lys231=)
c.729G>A (p.Lys243=)
c.753G>A (p.Lys251=)
c.522G>A (p.Lys174=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420666T>ACA357497622ADH7c.692A>T (p.Lys231Met)
c.728A>T (p.Lys243Met)
c.752A>T (p.Lys251Met)
c.521A>T (p.Lys174Met)
 dbSNP gnomAD v3 gnomAD v4
4g.99420666T>CCA357497624ADH7c.692A>G (p.Lys231Arg)
c.728A>G (p.Lys243Arg)
c.752A>G (p.Lys251Arg)
c.521A>G (p.Lys174Arg)
4g.99420666T>GCA357497623ADH7c.692A>C (p.Lys231Thr)
c.728A>C (p.Lys243Thr)
c.752A>C (p.Lys251Thr)
c.521A>C (p.Lys174Thr)
4g.99420666T=CA1479994251ADH7c.692A= (p.Lys231=)
c.728A= (p.Lys243=)
c.752A= (p.Lys251=)
c.521A= (p.Lys174=)
4g.99420667T>ACA357497625ADH7c.691A>T (p.Lys231Ter)
c.727A>T (p.Lys243Ter)
c.751A>T (p.Lys251Ter)
c.520A>T (p.Lys174Ter)
4g.99420667T>CCA357497626ADH7c.691A>G (p.Lys231Glu)
c.727A>G (p.Lys243Glu)
c.751A>G (p.Lys251Glu)
c.520A>G (p.Lys174Glu)
4g.99420667T>GCA357497627ADH7c.691A>C (p.Lys231Gln)
c.727A>C (p.Lys243Gln)
c.751A>C (p.Lys251Gln)
c.520A>C (p.Lys174Gln)
4g.99420668C>ACA357497628ADH7c.690G>T (p.Glu230Asp)
c.726G>T (p.Glu242Asp)
c.750G>T (p.Glu250Asp)
c.519G>T (p.Glu173Asp)
4g.99420668C=CA1479994255ADH7c.690G= (p.Glu230=)
c.726G= (p.Glu242=)
c.750G= (p.Glu250=)
c.519G= (p.Glu173=)
4g.99420668C>GCA357497629ADH7c.690G>C (p.Glu230Asp)
c.726G>C (p.Glu242Asp)
c.750G>C (p.Glu250Asp)
c.519G>C (p.Glu173Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.99420668C>TCA440506435ADH7c.690G>A (p.Glu230=)
c.726G>A (p.Glu242=)
c.750G>A (p.Glu250=)
c.519G>A (p.Glu173=)
 gnomAD v4
4g.99420669T>ACA357497630ADH7c.689A>T (p.Glu230Val)
c.725A>T (p.Glu242Val)
c.749A>T (p.Glu250Val)
c.518A>T (p.Glu173Val)
4g.99420669T>CCA357497631ADH7c.689A>G (p.Glu230Gly)
c.725A>G (p.Glu242Gly)
c.749A>G (p.Glu250Gly)
c.518A>G (p.Glu173Gly)
 gnomAD v4
4g.99420669T>GCA357497632ADH7c.689A>C (p.Glu230Ala)
c.725A>C (p.Glu242Ala)
c.749A>C (p.Glu250Ala)
c.518A>C (p.Glu173Ala)
4g.99420670C>ACA357497633ADH7c.688G>T (p.Glu230Ter)
c.724G>T (p.Glu242Ter)
c.748G>T (p.Glu250Ter)
c.517G>T (p.Glu173Ter)
4g.99420670C>GCA357497634ADH7c.688G>C (p.Glu230Gln)
c.724G>C (p.Glu242Gln)
c.748G>C (p.Glu250Gln)
c.517G>C (p.Glu173Gln)
4g.99420670C>TCA357497635ADH7c.688G>A (p.Glu230Lys)
c.724G>A (p.Glu242Lys)
c.748G>A (p.Glu250Lys)
c.517G>A (p.Glu173Lys)
4g.99420671A>CCA357497636ADH7c.687T>G (p.Phe229Leu)
c.723T>G (p.Phe241Leu)
c.747T>G (p.Phe249Leu)
c.516T>G (p.Phe172Leu)
4g.99420671A>GCA440506436ADH7c.687T>C (p.Phe229=)
c.723T>C (p.Phe241=)
c.747T>C (p.Phe249=)
c.516T>C (p.Phe172=)
4g.99420671A>TCA357497637ADH7c.687T>A (p.Phe229Leu)
c.723T>A (p.Phe241Leu)
c.747T>A (p.Phe249Leu)
c.516T>A (p.Phe172Leu)
4g.99420672A>CCA357497640ADH7c.686T>G (p.Phe229Cys)
c.722T>G (p.Phe241Cys)
c.746T>G (p.Phe249Cys)
c.515T>G (p.Phe172Cys)
4g.99420672A>GCA357497638ADH7c.686T>C (p.Phe229Ser)
c.722T>C (p.Phe241Ser)
c.746T>C (p.Phe249Ser)
c.515T>C (p.Phe172Ser)
4g.99420672A>TCA357497639ADH7c.686T>A (p.Phe229Tyr)
c.722T>A (p.Phe241Tyr)
c.746T>A (p.Phe249Tyr)
c.515T>A (p.Phe172Tyr)
4g.99420673A=CA1479994261ADH7c.685T= (p.Phe229=)
c.721T= (p.Phe241=)
c.745T= (p.Phe249=)
c.514T= (p.Phe172=)
4g.99420673A>CCA357497641ADH7c.685T>G (p.Phe229Val)
c.721T>G (p.Phe241Val)
c.745T>G (p.Phe249Val)
c.514T>G (p.Phe172Val)
4g.99420673A>GCA357497642ADH7c.685T>C (p.Phe229Leu)
c.721T>C (p.Phe241Leu)
c.745T>C (p.Phe249Leu)
c.514T>C (p.Phe172Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420673A>TCA357497643ADH7c.685T>A (p.Phe229Ile)
c.721T>A (p.Phe241Ile)
c.745T>A (p.Phe249Ile)
c.514T>A (p.Phe172Ile)
4g.99420674T>ACA357497644ADH7c.684A>T (p.Lys228Asn)
c.720A>T (p.Lys240Asn)
c.744A>T (p.Lys248Asn)
c.513A>T (p.Lys171Asn)
 COSMIC COSMIC
4g.99420674T>CCA3020752ADH7c.684A>G (p.Lys228=)
c.720A>G (p.Lys240=)
c.744A>G (p.Lys248=)
c.513A>G (p.Lys171=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420674T>GCA357497645ADH7c.684A>C (p.Lys228Asn)
c.720A>C (p.Lys240Asn)
c.744A>C (p.Lys248Asn)
c.513A>C (p.Lys171Asn)
4g.99420674T=CA1479994265ADH7c.684A= (p.Lys228=)
c.720A= (p.Lys240=)
c.744A= (p.Lys248=)
c.513A= (p.Lys171=)
4g.99420676delCA2671525114ADH7c.684del (p.Lys228AsnfsTer8)
c.720del (p.Lys240AsnfsTer8)
c.744del (p.Lys248AsnfsTer8)
c.513del (p.Lys171AsnfsTer8)
 gnomAD v4
4g.99420675T>ACA357497646ADH7c.683A>T (p.Lys228Ile)
c.719A>T (p.Lys240Ile)
c.743A>T (p.Lys248Ile)
c.512A>T (p.Lys171Ile)
4g.99420675T>CCA357497647ADH7c.683A>G (p.Lys228Arg)
c.719A>G (p.Lys240Arg)
c.743A>G (p.Lys248Arg)
c.512A>G (p.Lys171Arg)
4g.99420675T>GCA357497648ADH7c.683A>C (p.Lys228Thr)
c.719A>C (p.Lys240Thr)
c.743A>C (p.Lys248Thr)
c.512A>C (p.Lys171Thr)
4g.99420676T>ACA357497649ADH7c.682A>T (p.Lys228Ter)
c.718A>T (p.Lys240Ter)
c.742A>T (p.Lys248Ter)
c.511A>T (p.Lys171Ter)
 dbSNP gnomAD v3 gnomAD v4
4g.99420676T>CCA357497650ADH7c.682A>G (p.Lys228Glu)
c.718A>G (p.Lys240Glu)
c.742A>G (p.Lys248Glu)
c.511A>G (p.Lys171Glu)
4g.99420676T>GCA3020753ADH7c.682A>C (p.Lys228Gln)
c.718A>C (p.Lys240Gln)
c.742A>C (p.Lys248Gln)
c.511A>C (p.Lys171Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420676T=CA1479994269ADH7c.682A= (p.Lys228=)
c.718A= (p.Lys240=)
c.742A= (p.Lys248=)
c.511A= (p.Lys171=)
4g.99420677G>ACA440506437ADH7c.681C>T (p.Asp227=)
c.717C>T (p.Asp239=)
c.741C>T (p.Asp247=)
c.510C>T (p.Asp170=)
4g.99420677G>CCA357497651ADH7c.681C>G (p.Asp227Glu)
c.717C>G (p.Asp239Glu)
c.741C>G (p.Asp247Glu)
c.510C>G (p.Asp170Glu)
4g.99420677G>TCA357497652ADH7c.681C>A (p.Asp227Glu)
c.717C>A (p.Asp239Glu)
c.741C>A (p.Asp247Glu)
c.510C>A (p.Asp170Glu)
4g.99420677_99420682delinsGTCTTTCA1479994272ADH7c.676_681delinsAAAGAC (p.Lys226=)
c.712_717delinsAAAGAC (p.Lys238=)
c.736_741delinsAAAGAC (p.Lys246=)
c.505_510delinsAAAGAC (p.Lys169=)
4g.99420678T>ACA357497653ADH7c.680A>T (p.Asp227Val)
c.716A>T (p.Asp239Val)
c.740A>T (p.Asp247Val)
c.509A>T (p.Asp170Val)
4g.99420678T>CCA357497654ADH7c.680A>G (p.Asp227Gly)
c.716A>G (p.Asp239Gly)
c.740A>G (p.Asp247Gly)
c.509A>G (p.Asp170Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.99420678T>GCA357497655ADH7c.680A>C (p.Asp227Ala)
c.716A>C (p.Asp239Ala)
c.740A>C (p.Asp247Ala)
c.509A>C (p.Asp170Ala)
4g.99420678T=CA1479994278ADH7c.680A= (p.Asp227=)
c.716A= (p.Asp239=)
c.740A= (p.Asp247=)
c.509A= (p.Asp170=)
4g.99420678_99420682delCA3020754ADH7c.676_680del (p.Lys226GlnfsTer3)
c.712_716del (p.Lys238GlnfsTer3)
c.736_740del (p.Lys246GlnfsTer3)
c.505_509del (p.Lys169GlnfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420679C>ACA357497656ADH7c.679G>T (p.Asp227Tyr)
c.715G>T (p.Asp239Tyr)
c.739G>T (p.Asp247Tyr)
c.508G>T (p.Asp170Tyr)
4g.99420679C>GCA357497657ADH7c.679G>C (p.Asp227His)
c.715G>C (p.Asp239His)
c.739G>C (p.Asp247His)
c.508G>C (p.Asp170His)
4g.99420679C>TCA357497658ADH7c.679G>A (p.Asp227Asn)
c.715G>A (p.Asp239Asn)
c.739G>A (p.Asp247Asn)
c.508G>A (p.Asp170Asn)
4g.99420680T>ACA357497659ADH7c.678A>T (p.Lys226Asn)
c.714A>T (p.Lys238Asn)
c.738A>T (p.Lys246Asn)
c.507A>T (p.Lys169Asn)
4g.99420680T>CCA440506438ADH7c.678A>G (p.Lys226=)
c.714A>G (p.Lys238=)
c.738A>G (p.Lys246=)
c.507A>G (p.Lys169=)
 COSMIC COSMIC
4g.99420680T>GCA357497660ADH7c.678A>C (p.Lys226Asn)
c.714A>C (p.Lys238Asn)
c.738A>C (p.Lys246Asn)
c.507A>C (p.Lys169Asn)
4g.99420681T>ACA357497661ADH7c.677A>T (p.Lys226Ile)
c.713A>T (p.Lys238Ile)
c.737A>T (p.Lys246Ile)
c.506A>T (p.Lys169Ile)
4g.99420681T>CCA102646045ADH7c.677A>G (p.Lys226Arg)
c.713A>G (p.Lys238Arg)
c.737A>G (p.Lys246Arg)
c.506A>G (p.Lys169Arg)
 dbSNP
4g.99420681T>GCA357497662ADH7c.677A>C (p.Lys226Thr)
c.713A>C (p.Lys238Thr)
c.737A>C (p.Lys246Thr)
c.506A>C (p.Lys169Thr)
4g.99420681T=CA1479994280ADH7c.677A= (p.Lys226=)
c.713A= (p.Lys238=)
c.737A= (p.Lys246=)
c.506A= (p.Lys169=)
4g.99420682T>ACA357497664ADH7c.676A>T (p.Lys226Ter)
c.712A>T (p.Lys238Ter)
c.736A>T (p.Lys246Ter)
c.505A>T (p.Lys169Ter)
4g.99420682T>CCA3020755ADH7c.676A>G (p.Lys226Glu)
c.712A>G (p.Lys238Glu)
c.736A>G (p.Lys246Glu)
c.505A>G (p.Lys169Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420682T>GCA357497663ADH7c.676A>C (p.Lys226Gln)
c.712A>C (p.Lys238Gln)
c.736A>C (p.Lys246Gln)
c.505A>C (p.Lys169Gln)
4g.99420682T=CA1479994288ADH7c.676A= (p.Lys226=)
c.712A= (p.Lys238=)
c.736A= (p.Lys246=)
c.505A= (p.Lys169=)
4g.99420683G>ACA440506439ADH7c.675C>T (p.Asn225=)
c.711C>T (p.Asn237=)
c.735C>T (p.Asn245=)
c.504C>T (p.Asn168=)
 gnomAD v4
4g.99420683G>CCA357497665ADH7c.675C>G (p.Asn225Lys)
c.711C>G (p.Asn237Lys)
c.735C>G (p.Asn245Lys)
c.504C>G (p.Asn168Lys)
 gnomAD v4
4g.99420683G=CA1479994292ADH7c.675C= (p.Asn225=)
c.711C= (p.Asn237=)
c.735C= (p.Asn245=)
c.504C= (p.Asn168=)
4g.99420683G>TCA357497666ADH7c.675C>A (p.Asn225Lys)
c.711C>A (p.Asn237Lys)
c.735C>A (p.Asn245Lys)
c.504C>A (p.Asn168Lys)
4g.99420683_99420684insACA3020756ADH7c.674_675insT (p.Lys226GlnfsTer5)
c.710_711insT (p.Lys238GlnfsTer5)
c.734_735insT (p.Lys246GlnfsTer5)
c.503_504insT (p.Lys169GlnfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420684T>ACA357497667ADH7c.674A>T (p.Asn225Ile)
c.710A>T (p.Asn237Ile)
c.734A>T (p.Asn245Ile)
c.503A>T (p.Asn168Ile)
4g.99420684T>CCA3020757ADH7c.674A>G (p.Asn225Ser)
c.710A>G (p.Asn237Ser)
c.734A>G (p.Asn245Ser)
c.503A>G (p.Asn168Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420684T>GCA357497668ADH7c.674A>C (p.Asn225Thr)
c.710A>C (p.Asn237Thr)
c.734A>C (p.Asn245Thr)
c.503A>C (p.Asn168Thr)
4g.99420684T=CA1479994295ADH7c.674A= (p.Asn225=)
c.710A= (p.Asn237=)
c.734A= (p.Asn245=)
c.503A= (p.Asn168=)
4g.99420685T>ACA357497669ADH7c.673A>T (p.Asn225Tyr)
c.709A>T (p.Asn237Tyr)
c.733A>T (p.Asn245Tyr)
c.502A>T (p.Asn168Tyr)
4g.99420685T>CCA357497671ADH7c.673A>G (p.Asn225Asp)
c.709A>G (p.Asn237Asp)
c.733A>G (p.Asn245Asp)
c.502A>G (p.Asn168Asp)
4g.99420685T>GCA357497670ADH7c.673A>C (p.Asn225His)
c.709A>C (p.Asn237His)
c.733A>C (p.Asn245His)
c.502A>C (p.Asn168His)
4g.99420686G>ACA3020758ADH7c.672C>T (p.Leu224=)
c.708C>T (p.Leu236=)
c.732C>T (p.Leu244=)
c.501C>T (p.Leu167=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420686G>CCA440506440ADH7c.672C>G (p.Leu224=)
c.708C>G (p.Leu236=)
c.732C>G (p.Leu244=)
c.501C>G (p.Leu167=)
4g.99420686G=CA1479994300ADH7c.672C= (p.Leu224=)
c.708C= (p.Leu236=)
c.732C= (p.Leu244=)
c.501C= (p.Leu167=)
4g.99420686G>TCA440506441ADH7c.672C>A (p.Leu224=)
c.708C>A (p.Leu236=)
c.732C>A (p.Leu244=)
c.501C>A (p.Leu167=)
4g.99420687A=CA1479994304ADH7c.671T= (p.Leu224=)
c.707T= (p.Leu236=)
c.731T= (p.Leu244=)
c.500T= (p.Leu167=)
4g.99420687A>CCA357497672ADH7c.671T>G (p.Leu224Arg)
c.707T>G (p.Leu236Arg)
c.731T>G (p.Leu244Arg)
c.500T>G (p.Leu167Arg)
 dbSNP
4g.99420687A>GCA357497673ADH7c.671T>C (p.Leu224Pro)
c.707T>C (p.Leu236Pro)
c.731T>C (p.Leu244Pro)
c.500T>C (p.Leu167Pro)
4g.99420687A>TCA357497674ADH7c.671T>A (p.Leu224His)
c.707T>A (p.Leu236His)
c.731T>A (p.Leu244His)
c.500T>A (p.Leu167His)
4g.99420688G>ACA102646078ADH7c.670C>T (p.Leu224Phe)
c.706C>T (p.Leu236Phe)
c.730C>T (p.Leu244Phe)
c.499C>T (p.Leu167Phe)
 dbSNP gnomAD v4
4g.99420688G>CCA357497676ADH7c.670C>G (p.Leu224Val)
c.706C>G (p.Leu236Val)
c.730C>G (p.Leu244Val)
c.499C>G (p.Leu167Val)
4g.99420688G=CA1479994307ADH7c.670C= (p.Leu224=)
c.706C= (p.Leu236=)
c.730C= (p.Leu244=)
c.499C= (p.Leu167=)
4g.99420688G>TCA357497675ADH7c.670C>A (p.Leu224Ile)
c.706C>A (p.Leu236Ile)
c.730C>A (p.Leu244Ile)
c.499C>A (p.Leu167Ile)
4g.99420689G>ACA440506442ADH7c.669C>T (p.Asp223=)
c.705C>T (p.Asp235=)
c.729C>T (p.Asp243=)
c.498C>T (p.Asp166=)
4g.99420689G>CCA357497677ADH7c.669C>G (p.Asp223Glu)
c.705C>G (p.Asp235Glu)
c.729C>G (p.Asp243Glu)
c.498C>G (p.Asp166Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.99420689G=CA1479994310ADH7c.669C= (p.Asp223=)
c.705C= (p.Asp235=)
c.729C= (p.Asp243=)
c.498C= (p.Asp166=)
4g.99420689G>TCA102646133ADH7c.669C>A (p.Asp223Glu)
c.705C>A (p.Asp235Glu)
c.729C>A (p.Asp243Glu)
c.498C>A (p.Asp166Glu)
 dbSNP gnomAD v4
4g.99420690T>ACA357497678ADH7c.668A>T (p.Asp223Val)
c.704A>T (p.Asp235Val)
c.728A>T (p.Asp243Val)
c.497A>T (p.Asp166Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420690T>CCA357497679ADH7c.668A>G (p.Asp223Gly)
c.704A>G (p.Asp235Gly)
c.728A>G (p.Asp243Gly)
c.497A>G (p.Asp166Gly)
4g.99420690T>GCA357497680ADH7c.668A>C (p.Asp223Ala)
c.704A>C (p.Asp235Ala)
c.728A>C (p.Asp243Ala)
c.497A>C (p.Asp166Ala)
4g.99420690T=CA1479994314ADH7c.668A= (p.Asp223=)
c.704A= (p.Asp235=)
c.728A= (p.Asp243=)
c.497A= (p.Asp166=)
4g.99420691C>ACA357497681ADH7c.667G>T (p.Asp223Tyr)
c.703G>T (p.Asp235Tyr)
c.727G>T (p.Asp243Tyr)
c.496G>T (p.Asp166Tyr)
 gnomAD v4
4g.99420691C>GCA357497682ADH7c.667G>C (p.Asp223His)
c.703G>C (p.Asp235His)
c.727G>C (p.Asp243His)
c.496G>C (p.Asp166His)
 gnomAD v4
4g.99420691C>TCA357497683ADH7c.667G>A (p.Asp223Asn)
c.703G>A (p.Asp235Asn)
c.727G>A (p.Asp243Asn)
c.496G>A (p.Asp166Asn)
4g.99420692A=CA1479994316ADH7c.666T= (p.Ile222=)
c.702T= (p.Ile234=)
c.726T= (p.Ile242=)
c.495T= (p.Ile165=)
4g.99420692A>CCA357497684ADH7c.666T>G (p.Ile222Met)
c.702T>G (p.Ile234Met)
c.726T>G (p.Ile242Met)
c.495T>G (p.Ile165Met)
4g.99420692A>GCA440506443ADH7c.666T>C (p.Ile222=)
c.702T>C (p.Ile234=)
c.726T>C (p.Ile242=)
c.495T>C (p.Ile165=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420692A>TCA3020759ADH7c.666T>A (p.Ile222=)
c.702T>A (p.Ile234=)
c.726T>A (p.Ile242=)
c.495T>A (p.Ile165=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420693A>CCA357497685ADH7c.665T>G (p.Ile222Ser)
c.701T>G (p.Ile234Ser)
c.725T>G (p.Ile242Ser)
c.494T>G (p.Ile165Ser)
4g.99420693A>GCA357497687ADH7c.665T>C (p.Ile222Thr)
c.701T>C (p.Ile234Thr)
c.725T>C (p.Ile242Thr)
c.494T>C (p.Ile165Thr)
4g.99420693A>TCA357497686ADH7c.665T>A (p.Ile222Asn)
c.701T>A (p.Ile234Asn)
c.725T>A (p.Ile242Asn)
c.494T>A (p.Ile165Asn)
4g.99420694T>ACA357497688ADH7c.664A>T (p.Ile222Phe)
c.700A>T (p.Ile234Phe)
c.724A>T (p.Ile242Phe)
c.493A>T (p.Ile165Phe)
4g.99420694T>CCA357497689ADH7c.664A>G (p.Ile222Val)
c.700A>G (p.Ile234Val)
c.724A>G (p.Ile242Val)
c.493A>G (p.Ile165Val)
4g.99420694T>GCA357497690ADH7c.664A>C (p.Ile222Leu)
c.700A>C (p.Ile234Leu)
c.724A>C (p.Ile242Leu)
c.493A>C (p.Ile165Leu)
4g.99420695C>ACA440506444ADH7c.663G>T (p.Gly221=)
c.699G>T (p.Gly233=)
c.723G>T (p.Gly241=)
c.492G>T (p.Gly164=)
4g.99420695C=CA1479994322ADH7c.663G= (p.Gly221=)
c.699G= (p.Gly233=)
c.723G= (p.Gly241=)
c.492G= (p.Gly164=)
4g.99420695C>GCA440506445ADH7c.663G>C (p.Gly221=)
c.699G>C (p.Gly233=)
c.723G>C (p.Gly241=)
c.492G>C (p.Gly164=)
4g.99420695C>TCA102646151ADH7c.663G>A (p.Gly221=)
c.699G>A (p.Gly233=)
c.723G>A (p.Gly241=)
c.492G>A (p.Gly164=)
 dbSNP gnomAD v4
4g.99420696C>ACA357497691ADH7c.662G>T (p.Gly221Val)
c.698G>T (p.Gly233Val)
c.722G>T (p.Gly241Val)
c.491G>T (p.Gly164Val)
4g.99420696C=CA1479994331ADH7c.662G= (p.Gly221=)
c.698G= (p.Gly233=)
c.722G= (p.Gly241=)
c.491G= (p.Gly164=)
4g.99420696C>GCA357497693ADH7c.662G>C (p.Gly221Ala)
c.698G>C (p.Gly233Ala)
c.722G>C (p.Gly241Ala)
c.491G>C (p.Gly164Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.99420696C>TCA357497692ADH7c.662G>A (p.Gly221Glu)
c.698G>A (p.Gly233Glu)
c.722G>A (p.Gly241Glu)
c.491G>A (p.Gly164Glu)
4g.99420697C>ACA102646152ADH7c.661G>T (p.Gly221Trp)
c.697G>T (p.Gly233Trp)
c.721G>T (p.Gly241Trp)
c.490G>T (p.Gly164Trp)
 dbSNP
4g.99420697C=CA1479994336ADH7c.661G= (p.Gly221=)
c.697G= (p.Gly233=)
c.721G= (p.Gly241=)
c.490G= (p.Gly164=)
4g.99420697C>GCA357497694ADH7c.661G>C (p.Gly221Arg)
c.697G>C (p.Gly233Arg)
c.721G>C (p.Gly241Arg)
c.490G>C (p.Gly164Arg)
4g.99420697C>TCA357497695ADH7c.661G>A (p.Gly221Arg)
c.697G>A (p.Gly233Arg)
c.721G>A (p.Gly241Arg)
c.490G>A (p.Gly164Arg)
4g.99420698A>CCA357497696ADH7c.660T>G (p.Ile220Met)
c.696T>G (p.Ile232Met)
c.720T>G (p.Ile240Met)
c.489T>G (p.Ile163Met)
4g.99420698A>GCA440506446ADH7c.660T>C (p.Ile220=)
c.696T>C (p.Ile232=)
c.720T>C (p.Ile240=)
c.489T>C (p.Ile163=)
4g.99420698A>TCA440506447ADH7c.660T>A (p.Ile220=)
c.696T>A (p.Ile232=)
c.720T>A (p.Ile240=)
c.489T>A (p.Ile163=)
4g.99420699A=CA1479994339ADH7c.659T= (p.Ile220=)
c.695T= (p.Ile232=)
c.719T= (p.Ile240=)
c.488T= (p.Ile163=)
4g.99420699A>CCA357497697ADH7c.659T>G (p.Ile220Ser)
c.695T>G (p.Ile232Ser)
c.719T>G (p.Ile240Ser)
c.488T>G (p.Ile163Ser)
4g.99420699A>GCA3020760ADH7c.659T>C (p.Ile220Thr)
c.695T>C (p.Ile232Thr)
c.719T>C (p.Ile240Thr)
c.488T>C (p.Ile163Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420699A>TCA357497698ADH7c.659T>A (p.Ile220Asn)
c.695T>A (p.Ile232Asn)
c.719T>A (p.Ile240Asn)
c.488T>A (p.Ile163Asn)
4g.99420700T>ACA357497699ADH7c.658A>T (p.Ile220Phe)
c.694A>T (p.Ile232Phe)
c.718A>T (p.Ile240Phe)
c.487A>T (p.Ile163Phe)
4g.99420700T>CCA357497700ADH7c.658A>G (p.Ile220Val)
c.694A>G (p.Ile232Val)
c.718A>G (p.Ile240Val)
c.487A>G (p.Ile163Val)
4g.99420700T>GCA357497701ADH7c.658A>C (p.Ile220Leu)
c.694A>C (p.Ile232Leu)
c.718A>C (p.Ile240Leu)
c.487A>C (p.Ile163Leu)
4g.99420701G>ACA440506448ADH7c.657C>T (p.Ile219=)
c.693C>T (p.Ile231=)
c.717C>T (p.Ile239=)
c.486C>T (p.Ile162=)
 COSMIC COSMIC
4g.99420701G>CCA357497702ADH7c.657C>G (p.Ile219Met)
c.693C>G (p.Ile231Met)
c.717C>G (p.Ile239Met)
c.486C>G (p.Ile162Met)
4g.99420701G>TCA440506449ADH7c.657C>A (p.Ile219=)
c.693C>A (p.Ile231=)
c.717C>A (p.Ile239=)
c.486C>A (p.Ile162=)
4g.99420702A=CA1479994344ADH7c.656T= (p.Ile219=)
c.692T= (p.Ile231=)
c.716T= (p.Ile239=)
c.485T= (p.Ile162=)
4g.99420702A>CCA357497703ADH7c.656T>G (p.Ile219Ser)
c.692T>G (p.Ile231Ser)
c.716T>G (p.Ile239Ser)
c.485T>G (p.Ile162Ser)
4g.99420702A>GCA357497704ADH7c.656T>C (p.Ile219Thr)
c.692T>C (p.Ile231Thr)
c.716T>C (p.Ile239Thr)
c.485T>C (p.Ile162Thr)
4g.99420702A>TCA102646165ADH7c.656T>A (p.Ile219Asn)
c.692T>A (p.Ile231Asn)
c.716T>A (p.Ile239Asn)
c.485T>A (p.Ile162Asn)
 dbSNP gnomAD v4
4g.99420703T>ACA357497705ADH7c.655A>T (p.Ile219Phe)
c.691A>T (p.Ile231Phe)
c.715A>T (p.Ile239Phe)
c.484A>T (p.Ile162Phe)
4g.99420703T>CCA357497706ADH7c.655A>G (p.Ile219Val)
c.691A>G (p.Ile231Val)
c.715A>G (p.Ile239Val)
c.484A>G (p.Ile162Val)
 gnomAD v4
4g.99420703T>GCA357497707ADH7c.655A>C (p.Ile219Leu)
c.691A>C (p.Ile231Leu)
c.715A>C (p.Ile239Leu)
c.484A>C (p.Ile162Leu)
4g.99420704C>ACA357497708ADH7c.654G>T (p.Arg218Ser)
c.690G>T (p.Arg230Ser)
c.714G>T (p.Arg238Ser)
c.483G>T (p.Arg161Ser)
4g.99420704C=CA1479994348ADH7c.654G= (p.Arg218=)
c.690G= (p.Arg230=)
c.714G= (p.Arg238=)
c.483G= (p.Arg161=)
4g.99420704C>GCA357497709ADH7c.654G>C (p.Arg218Ser)
c.690G>C (p.Arg230Ser)
c.714G>C (p.Arg238Ser)
c.483G>C (p.Arg161Ser)
 gnomAD v4
4g.99420704C>TCA3020761ADH7c.654G>A (p.Arg218=)
c.690G>A (p.Arg230=)
c.714G>A (p.Arg238=)
c.483G>A (p.Arg161=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420705C>ACA357497710ADH7c.653G>T (p.Arg218Met)
c.689G>T (p.Arg230Met)
c.713G>T (p.Arg238Met)
c.482G>T (p.Arg161Met)
4g.99420705C=CA1479994352ADH7c.653G= (p.Arg218=)
c.689G= (p.Arg230=)
c.713G= (p.Arg238=)
c.482G= (p.Arg161=)
4g.99420705C>GCA357497711ADH7c.653G>C (p.Arg218Thr)
c.689G>C (p.Arg230Thr)
c.713G>C (p.Arg238Thr)
c.482G>C (p.Arg161Thr)
4g.99420705C>TCA357497712ADH7c.653G>A (p.Arg218Lys)
c.689G>A (p.Arg230Lys)
c.713G>A (p.Arg238Lys)
c.482G>A (p.Arg161Lys)
 dbSNP gnomAD v4
4g.99420706T>ACA357497713ADH7c.652A>T (p.Arg218Trp)
c.688A>T (p.Arg230Trp)
c.712A>T (p.Arg238Trp)
c.481A>T (p.Arg161Trp)
4g.99420706T>CCA357497714ADH7c.652A>G (p.Arg218Gly)
c.688A>G (p.Arg230Gly)
c.712A>G (p.Arg238Gly)
c.481A>G (p.Arg161Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.99420706T>GCA440506450ADH7c.652A>C (p.Arg218=)
c.688A>C (p.Arg230=)
c.712A>C (p.Arg238=)
c.481A>C (p.Arg161=)
4g.99420706T=CA1479994355ADH7c.652A= (p.Arg218=)
c.688A= (p.Arg230=)
c.712A= (p.Arg238=)
c.481A= (p.Arg161=)
4g.99420707A=CA1479994357ADH7c.651T= (p.Ser217=)
c.687T= (p.Ser229=)
c.711T= (p.Ser237=)
c.480T= (p.Ser160=)
4g.99420707A>CCA440506451ADH7c.651T>G (p.Ser217=)
c.687T>G (p.Ser229=)
c.711T>G (p.Ser237=)
c.480T>G (p.Ser160=)
4g.99420707A>GCA440506452ADH7c.651T>C (p.Ser217=)
c.687T>C (p.Ser229=)
c.711T>C (p.Ser237=)
c.480T>C (p.Ser160=)
 dbSNP
4g.99420707A>TCA440506453ADH7c.651T>A (p.Ser217=)
c.687T>A (p.Ser229=)
c.711T>A (p.Ser237=)
c.480T>A (p.Ser160=)
 dbSNP
4g.99420708G>ACA357497717ADH7c.650C>T (p.Ser217Phe)
c.686C>T (p.Ser229Phe)
c.710C>T (p.Ser237Phe)
c.479C>T (p.Ser160Phe)
4g.99420708G>CCA357497716ADH7c.650C>G (p.Ser217Cys)
c.686C>G (p.Ser229Cys)
c.710C>G (p.Ser237Cys)
c.479C>G (p.Ser160Cys)
 gnomAD v4
4g.99420708G>TCA357497715ADH7c.650C>A (p.Ser217Tyr)
c.686C>A (p.Ser229Tyr)
c.710C>A (p.Ser237Tyr)
c.479C>A (p.Ser160Tyr)
4g.99420709A=CA1479994360ADH7c.649T= (p.Ser217=)
c.685T= (p.Ser229=)
c.709T= (p.Ser237=)
c.478T= (p.Ser160=)
4g.99420709A>CCA357497718ADH7c.649T>G (p.Ser217Ala)
c.685T>G (p.Ser229Ala)
c.709T>G (p.Ser237Ala)
c.478T>G (p.Ser160Ala)
4g.99420709A>GCA357497719ADH7c.649T>C (p.Ser217Pro)
c.685T>C (p.Ser229Pro)
c.709T>C (p.Ser237Pro)
c.478T>C (p.Ser160Pro)
4g.99420709A>TCA357497720ADH7c.649T>A (p.Ser217Thr)
c.685T>A (p.Ser229Thr)
c.709T>A (p.Ser237Thr)
c.478T>A (p.Ser160Thr)
 dbSNP

Number of alleles fetched