Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018206G>ACA1053968HJVc.1152C>T (p.Ala384=)
c.474C>T (p.Ala158=)
c.813C>T (p.Ala271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018206G>CCA29823028HJVc.1152C>G (p.Ala384=)
c.474C>G (p.Ala158=)
c.813C>G (p.Ala271=)
1g.146018206G=CA1198820880HJVc.1152C= (p.Ala384=)
c.474C= (p.Ala158=)
c.813C= (p.Ala271=)
1g.146018206G>TCA29823037HJVc.1152C>A (p.Ala384=)
c.474C>A (p.Ala158=)
c.813C>A (p.Ala271=)
1g.146018207G>ACA342132394HJVc.1151C>T (p.Ala384Val)
c.473C>T (p.Ala158Val)
c.812C>T (p.Ala271Val)
 dbSNP gnomAD v4
1g.146018207G>CCA342132397HJVc.1151C>G (p.Ala384Gly)
c.473C>G (p.Ala158Gly)
c.812C>G (p.Ala271Gly)
1g.146018207G=CA1198820881HJVc.1151C= (p.Ala384=)
c.473C= (p.Ala158=)
c.812C= (p.Ala271=)
1g.146018207G>TCA342132399HJVc.1151C>A (p.Ala384Asp)
c.473C>A (p.Ala158Asp)
c.812C>A (p.Ala271Asp)
1g.146018208C>ACA342132407HJVc.1150G>T (p.Ala384Ser)
c.472G>T (p.Ala158Ser)
c.811G>T (p.Ala271Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.146018208C=CA1198820882HJVc.1150G= (p.Ala384=)
c.472G= (p.Ala158=)
c.811G= (p.Ala271=)
1g.146018208C>GCA342132401HJVc.1150G>C (p.Ala384Pro)
c.472G>C (p.Ala158Pro)
c.811G>C (p.Ala271Pro)
1g.146018208C>TCA342132404HJVc.1150G>A (p.Ala384Thr)
c.472G>A (p.Ala158Thr)
c.811G>A (p.Ala271Thr)
1g.146018209A=CA1198820883HJVc.1149T= (p.Asp383=)
c.471T= (p.Asp157=)
c.810T= (p.Asp270=)
1g.146018209A>CCA342132413HJVc.1149T>G (p.Asp383Glu)
c.471T>G (p.Asp157Glu)
c.810T>G (p.Asp270Glu)
1g.146018209A>GCA29823044HJVc.1149T>C (p.Asp383=)
c.471T>C (p.Asp157=)
c.810T>C (p.Asp270=)
 ClinVar dbSNP COSMIC
1g.146018209A>TCA342132414HJVc.1149T>A (p.Asp383Glu)
c.471T>A (p.Asp157Glu)
c.810T>A (p.Asp270Glu)
1g.146018210T>ACA342132417HJVc.1148A>T (p.Asp383Val)
c.470A>T (p.Asp157Val)
c.809A>T (p.Asp270Val)
1g.146018210T>CCA342132422HJVc.1148A>G (p.Asp383Gly)
c.470A>G (p.Asp157Gly)
c.809A>G (p.Asp270Gly)
1g.146018210T>GCA342132426HJVc.1148A>C (p.Asp383Ala)
c.470A>C (p.Asp157Ala)
c.809A>C (p.Asp270Ala)
1g.146018211C>ACA342132432HJVc.1147G>T (p.Asp383Tyr)
c.469G>T (p.Asp157Tyr)
c.808G>T (p.Asp270Tyr)
1g.146018211C>GCA342132434HJVc.1147G>C (p.Asp383His)
c.469G>C (p.Asp157His)
c.808G>C (p.Asp270His)
1g.146018211C>TCA342132435HJVc.1147G>A (p.Asp383Asn)
c.469G>A (p.Asp157Asn)
c.808G>A (p.Asp270Asn)
1g.146018212C>ACA342132436HJVc.1146G>T (p.Glu382Asp)
c.468G>T (p.Glu156Asp)
c.807G>T (p.Glu269Asp)
1g.146018212C>GCA342132437HJVc.1146G>C (p.Glu382Asp)
c.468G>C (p.Glu156Asp)
c.807G>C (p.Glu269Asp)
1g.146018212C>TCA420250160HJVc.1146G>A (p.Glu382=)
c.468G>A (p.Glu156=)
c.807G>A (p.Glu269=)
1g.146018213T>ACA29823056HJVc.1145A>T (p.Glu382Val)
c.467A>T (p.Glu156Val)
c.806A>T (p.Glu269Val)
1g.146018213T>CCA29823067HJVc.1145A>G (p.Glu382Gly)
c.467A>G (p.Glu156Gly)
c.806A>G (p.Glu269Gly)
1g.146018213T>GCA1053967HJVc.1145A>C (p.Glu382Ala)
c.467A>C (p.Glu156Ala)
c.806A>C (p.Glu269Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018213T=CA1142042613HJVc.1145A= (p.Glu382=)
c.467A= (p.Glu156=)
c.806A= (p.Glu269=)
1g.146018214C>ACA342132461HJVc.1144G>T (p.Glu382Ter)
c.466G>T (p.Glu156Ter)
c.805G>T (p.Glu269Ter)
1g.146018214C=CA1198820884HJVc.1144G= (p.Glu382=)
c.466G= (p.Glu156=)
c.805G= (p.Glu269=)
1g.146018214C>GCA342132463HJVc.1144G>C (p.Glu382Gln)
c.466G>C (p.Glu156Gln)
c.805G>C (p.Glu269Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.146018214C>TCA342132456HJVc.1144G>A (p.Glu382Lys)
c.466G>A (p.Glu156Lys)
c.805G>A (p.Glu269Lys)
 dbSNP gnomAD v4
1g.146018215C>ACA420250162HJVc.1143G>T (p.Leu381=)
c.465G>T (p.Leu155=)
c.804G>T (p.Leu268=)
1g.146018215C>GCA420250161HJVc.1143G>C (p.Leu381=)
c.465G>C (p.Leu155=)
c.804G>C (p.Leu268=)
1g.146018215C>TCA420250163HJVc.1143G>A (p.Leu381=)
c.465G>A (p.Leu155=)
c.804G>A (p.Leu268=)
 ClinVar gnomAD v4
1g.146018216A>CCA342132474HJVc.1142T>G (p.Leu381Arg)
c.464T>G (p.Leu155Arg)
c.803T>G (p.Leu268Arg)
 ClinVar gnomAD v4
1g.146018216A>GCA342132487HJVc.1142T>C (p.Leu381Pro)
c.464T>C (p.Leu155Pro)
c.803T>C (p.Leu268Pro)
1g.146018216A>TCA342132484HJVc.1142T>A (p.Leu381Gln)
c.464T>A (p.Leu155Gln)
c.803T>A (p.Leu268Gln)
1g.146018217G>ACA420250164HJVc.1141C>T (p.Leu381=)
c.463C>T (p.Leu155=)
c.802C>T (p.Leu268=)
1g.146018217G>CCA342132491HJVc.1141C>G (p.Leu381Val)
c.463C>G (p.Leu155Val)
c.802C>G (p.Leu268Val)
 dbSNP
1g.146018217G=CA1198820885HJVc.1141C= (p.Leu381=)
c.463C= (p.Leu155=)
c.802C= (p.Leu268=)
1g.146018217G>TCA342132495HJVc.1141C>A (p.Leu381Met)
c.463C>A (p.Leu155Met)
c.802C>A (p.Leu268Met)
 ClinVar dbSNP
1g.146018218T>ACA420250166HJVc.1140A>T (p.Ala380=)
c.462A>T (p.Ala154=)
c.801A>T (p.Ala267=)
1g.146018218T>CCA420250167HJVc.1140A>G (p.Ala380=)
c.462A>G (p.Ala154=)
c.801A>G (p.Ala267=)
1g.146018218T>GCA420250165HJVc.1140A>C (p.Ala380=)
c.462A>C (p.Ala154=)
c.801A>C (p.Ala267=)
1g.146018219G>ACA342132501HJVc.1139C>T (p.Ala380Val)
c.461C>T (p.Ala154Val)
c.800C>T (p.Ala267Val)
1g.146018219G>CCA342132510HJVc.1139C>G (p.Ala380Gly)
c.461C>G (p.Ala154Gly)
c.800C>G (p.Ala267Gly)
1g.146018219G>TCA342132512HJVc.1139C>A (p.Ala380Glu)
c.461C>A (p.Ala154Glu)
c.800C>A (p.Ala267Glu)
1g.146018220C>ACA342132523HJVc.1138G>T (p.Ala380Ser)
c.460G>T (p.Ala154Ser)
c.799G>T (p.Ala267Ser)
1g.146018220C>GCA342132531HJVc.1138G>C (p.Ala380Pro)
c.460G>C (p.Ala154Pro)
c.799G>C (p.Ala267Pro)
1g.146018220C>TCA342132534HJVc.1138G>A (p.Ala380Thr)
c.460G>A (p.Ala154Thr)
c.799G>A (p.Ala267Thr)
1g.146018221T>ACA420250170HJVc.1137A>T (p.Ala379=)
c.459A>T (p.Ala153=)
c.798A>T (p.Ala266=)
1g.146018221T>CCA420250169HJVc.1137A>G (p.Ala379=)
c.459A>G (p.Ala153=)
c.798A>G (p.Ala266=)
1g.146018221T>GCA420250168HJVc.1137A>C (p.Ala379=)
c.459A>C (p.Ala153=)
c.798A>C (p.Ala266=)
1g.146018222G>ACA29823087HJVc.1136C>T (p.Ala379Val)
c.458C>T (p.Ala153Val)
c.797C>T (p.Ala266Val)
 gnomAD v4
1g.146018222G>CCA29823101HJVc.1136C>G (p.Ala379Gly)
c.458C>G (p.Ala153Gly)
c.797C>G (p.Ala266Gly)
1g.146018222G=CA1198820886HJVc.1136C= (p.Ala379=)
c.458C= (p.Ala153=)
c.797C= (p.Ala266=)
1g.146018222G>TCA1053966HJVc.1136C>A (p.Ala379Glu)
c.458C>A (p.Ala153Glu)
c.797C>A (p.Ala266Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018223C>ACA342132576HJVc.1135G>T (p.Ala379Ser)
c.457G>T (p.Ala153Ser)
c.796G>T (p.Ala266Ser)
1g.146018223C>GCA342132554HJVc.1135G>C (p.Ala379Pro)
c.457G>C (p.Ala153Pro)
c.796G>C (p.Ala266Pro)
1g.146018223C>TCA342132558HJVc.1135G>A (p.Ala379Thr)
c.457G>A (p.Ala153Thr)
c.796G>A (p.Ala266Thr)
1g.146018224C>ACA342132582HJVc.1134G>T (p.Gln378His)
c.456G>T (p.Gln152His)
c.795G>T (p.Gln265His)
1g.146018224C>GCA342132586HJVc.1134G>C (p.Gln378His)
c.456G>C (p.Gln152His)
c.795G>C (p.Gln265His)
1g.146018224C>TCA420250171HJVc.1134G>A (p.Gln378=)
c.456G>A (p.Gln152=)
c.795G>A (p.Gln265=)
 ClinVar dbSNP
1g.146018225T>ACA342132589HJVc.1133A>T (p.Gln378Leu)
c.455A>T (p.Gln152Leu)
c.794A>T (p.Gln265Leu)
1g.146018225T>CCA342132591HJVc.1133A>G (p.Gln378Arg)
c.455A>G (p.Gln152Arg)
c.794A>G (p.Gln265Arg)
 gnomAD v4
1g.146018225T>GCA342132593HJVc.1133A>C (p.Gln378Pro)
c.455A>C (p.Gln152Pro)
c.794A>C (p.Gln265Pro)
1g.146018226G>ACA342132599HJVc.1132C>T (p.Gln378Ter)
c.454C>T (p.Gln152Ter)
c.793C>T (p.Gln265Ter)
1g.146018226G>CCA342132604HJVc.1132C>G (p.Gln378Glu)
c.454C>G (p.Gln152Glu)
c.793C>G (p.Gln265Glu)
1g.146018226G>TCA342132606HJVc.1132C>A (p.Gln378Lys)
c.454C>A (p.Gln152Lys)
c.793C>A (p.Gln265Lys)
1g.146018227A>CCA420250173HJVc.1131T>G (p.Ala377=)
c.453T>G (p.Ala151=)
c.792T>G (p.Ala264=)
1g.146018227A>GCA420250172HJVc.1131T>C (p.Ala377=)
c.453T>C (p.Ala151=)
c.792T>C (p.Ala264=)
1g.146018227A>TCA420250174HJVc.1131T>A (p.Ala377=)
c.453T>A (p.Ala151=)
c.792T>A (p.Ala264=)
1g.146018228G>ACA342132613HJVc.1130C>T (p.Ala377Val)
c.452C>T (p.Ala151Val)
c.791C>T (p.Ala264Val)
1g.146018228G>CCA342132615HJVc.1130C>G (p.Ala377Gly)
c.452C>G (p.Ala151Gly)
c.791C>G (p.Ala264Gly)
1g.146018228G>TCA342132626HJVc.1130C>A (p.Ala377Asp)
c.452C>A (p.Ala151Asp)
c.791C>A (p.Ala264Asp)
1g.146018229C>ACA342132676HJVc.1129G>T (p.Ala377Ser)
c.451G>T (p.Ala151Ser)
c.790G>T (p.Ala264Ser)
1g.146018229C=CA1198820887HJVc.1129G= (p.Ala377=)
c.451G= (p.Ala151=)
c.790G= (p.Ala264=)
1g.146018229C>GCA342132679HJVc.1129G>C (p.Ala377Pro)
c.451G>C (p.Ala151Pro)
c.790G>C (p.Ala264Pro)
1g.146018229C>TCA342132669HJVc.1129G>A (p.Ala377Thr)
c.451G>A (p.Ala151Thr)
c.790G>A (p.Ala264Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018230T>ACA420250177HJVc.1128A>T (p.Ala376=)
c.450A>T (p.Ala150=)
c.789A>T (p.Ala263=)
1g.146018230T>CCA420250175HJVc.1128A>G (p.Ala376=)
c.450A>G (p.Ala150=)
c.789A>G (p.Ala263=)
1g.146018230T>GCA420250176HJVc.1128A>C (p.Ala376=)
c.450A>C (p.Ala150=)
c.789A>C (p.Ala263=)
 dbSNP
1g.146018230T=CA1198820888HJVc.1128A= (p.Ala376=)
c.450A= (p.Ala150=)
c.789A= (p.Ala263=)
1g.146018231G>ACA342132685HJVc.1127C>T (p.Ala376Val)
c.449C>T (p.Ala150Val)
c.788C>T (p.Ala263Val)
1g.146018231G>CCA342132693HJVc.1127C>G (p.Ala376Gly)
c.449C>G (p.Ala150Gly)
c.788C>G (p.Ala263Gly)
1g.146018231G>TCA342132696HJVc.1127C>A (p.Ala376Glu)
c.449C>A (p.Ala150Glu)
c.788C>A (p.Ala263Glu)
 COSMIC
1g.146018232C>ACA342132699HJVc.1126G>T (p.Ala376Ser)
c.448G>T (p.Ala150Ser)
c.787G>T (p.Ala263Ser)
1g.146018232C>GCA342132702HJVc.1126G>C (p.Ala376Pro)
c.448G>C (p.Ala150Pro)
c.787G>C (p.Ala263Pro)
1g.146018232C>TCA342132704HJVc.1126G>A (p.Ala376Thr)
c.448G>A (p.Ala150Thr)
c.787G>A (p.Ala263Thr)
 gnomAD v4
1g.146018233C>ACA420250180HJVc.1125G>T (p.Val375=)
c.447G>T (p.Val149=)
c.786G>T (p.Val262=)
1g.146018233C>GCA420250179HJVc.1125G>C (p.Val375=)
c.447G>C (p.Val149=)
c.786G>C (p.Val262=)
1g.146018233C>TCA420250178HJVc.1125G>A (p.Val375=)
c.447G>A (p.Val149=)
c.786G>A (p.Val262=)
1g.146018234A>CCA342132722HJVc.1124T>G (p.Val375Gly)
c.446T>G (p.Val149Gly)
c.785T>G (p.Val262Gly)
1g.146018234A>GCA342132714HJVc.1124T>C (p.Val375Ala)
c.446T>C (p.Val149Ala)
c.785T>C (p.Val262Ala)
 dbSNP
1g.146018234A>TCA342132719HJVc.1124T>A (p.Val375Glu)
c.446T>A (p.Val149Glu)
c.785T>A (p.Val262Glu)
1g.146018235C>ACA342132725HJVc.1123G>T (p.Val375Leu)
c.445G>T (p.Val149Leu)
c.784G>T (p.Val262Leu)
1g.146018235C=CA1198820889HJVc.1123G= (p.Val375=)
c.445G= (p.Val149=)
c.784G= (p.Val262=)
1g.146018235C>GCA342132728HJVc.1123G>C (p.Val375Leu)
c.445G>C (p.Val149Leu)
c.784G>C (p.Val262Leu)
1g.146018235C>TCA1053965HJVc.1123G>A (p.Val375Met)
c.445G>A (p.Val149Met)
c.784G>A (p.Val262Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018236G>ACA1053964HJVc.1122C>T (p.Thr374=)
c.444C>T (p.Thr148=)
c.783C>T (p.Thr261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018236G>CCA29823109HJVc.1122C>G (p.Thr374=)
c.444C>G (p.Thr148=)
c.783C>G (p.Thr261=)
1g.146018236G=CA1198820890HJVc.1122C= (p.Thr374=)
c.444C= (p.Thr148=)
c.783C= (p.Thr261=)
1g.146018236G>TCA29823132HJVc.1122C>A (p.Thr374=)
c.444C>A (p.Thr148=)
c.783C>A (p.Thr261=)
1g.146018237G>ACA342132743HJVc.1121C>T (p.Thr374Ile)
c.443C>T (p.Thr148Ile)
c.782C>T (p.Thr261Ile)
 gnomAD v4
1g.146018237G>CCA342132745HJVc.1121C>G (p.Thr374Ser)
c.443C>G (p.Thr148Ser)
c.782C>G (p.Thr261Ser)
1g.146018237G>TCA342132744HJVc.1121C>A (p.Thr374Asn)
c.443C>A (p.Thr148Asn)
c.782C>A (p.Thr261Asn)
1g.146018238T>ACA342132747HJVc.1120A>T (p.Thr374Ser)
c.442A>T (p.Thr148Ser)
c.781A>T (p.Thr261Ser)
1g.146018238T>CCA342132751HJVc.1120A>G (p.Thr374Ala)
c.442A>G (p.Thr148Ala)
c.781A>G (p.Thr261Ala)
 dbSNP gnomAD v4
1g.146018238T>GCA342132756HJVc.1120A>C (p.Thr374Pro)
c.442A>C (p.Thr148Pro)
c.781A>C (p.Thr261Pro)
1g.146018239A>CCA342132760HJVc.1119T>G (p.Phe373Leu)
c.441T>G (p.Phe147Leu)
c.780T>G (p.Phe260Leu)
1g.146018239A>GCA420250181HJVc.1119T>C (p.Phe373=)
c.441T>C (p.Phe147=)
c.780T>C (p.Phe260=)
1g.146018239A>TCA342132764HJVc.1119T>A (p.Phe373Leu)
c.441T>A (p.Phe147Leu)
c.780T>A (p.Phe260Leu)
1g.146018240A>CCA342132771HJVc.1118T>G (p.Phe373Cys)
c.440T>G (p.Phe147Cys)
c.779T>G (p.Phe260Cys)
 COSMIC
1g.146018240A>GCA342132777HJVc.1118T>C (p.Phe373Ser)
c.440T>C (p.Phe147Ser)
c.779T>C (p.Phe260Ser)
 gnomAD v4
1g.146018240A>TCA342132780HJVc.1118T>A (p.Phe373Tyr)
c.440T>A (p.Phe147Tyr)
c.779T>A (p.Phe260Tyr)
1g.146018241A>CCA342132785HJVc.1117T>G (p.Phe373Val)
c.439T>G (p.Phe147Val)
c.778T>G (p.Phe260Val)
1g.146018241A>GCA342132788HJVc.1117T>C (p.Phe373Leu)
c.439T>C (p.Phe147Leu)
c.778T>C (p.Phe260Leu)
1g.146018241A>TCA342132793HJVc.1117T>A (p.Phe373Ile)
c.439T>A (p.Phe147Ile)
c.778T>A (p.Phe260Ile)
1g.146018242G>ACA420250182HJVc.1116C>T (p.Asn372=)
c.438C>T (p.Asn146=)
c.777C>T (p.Asn259=)
 gnomAD v4
1g.146018242G>CCA342132807HJVc.1116C>G (p.Asn372Lys)
c.438C>G (p.Asn146Lys)
c.777C>G (p.Asn259Lys)
1g.146018242G=CA1198820891HJVc.1116C= (p.Asn372=)
c.438C= (p.Asn146=)
c.777C= (p.Asn259=)
1g.146018242G>TCA342132811HJVc.1116C>A (p.Asn372Lys)
c.438C>A (p.Asn146Lys)
c.777C>A (p.Asn259Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.146018243T>ACA29823152HJVc.1115A>T (p.Asn372Ile)
c.437A>T (p.Asn146Ile)
c.776A>T (p.Asn259Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018243T>CCA342132829HJVc.1115A>G (p.Asn372Ser)
c.437A>G (p.Asn146Ser)
c.776A>G (p.Asn259Ser)
1g.146018243T>GCA342132816HJVc.1115A>C (p.Asn372Thr)
c.437A>C (p.Asn146Thr)
c.776A>C (p.Asn259Thr)
1g.146018243T=CA1142408288HJVc.1115A= (p.Asn372=)
c.437A= (p.Asn146=)
c.776A= (p.Asn259=)
1g.146018244T>ACA29823180HJVc.1114A>T (p.Asn372Tyr)
c.436A>T (p.Asn146Tyr)
c.775A>T (p.Asn259Tyr)
1g.146018244T>CCA1053962HJVc.1114A>G (p.Asn372Asp)
c.436A>G (p.Asn146Asp)
c.775A>G (p.Asn259Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018244T>GCA1053963HJVc.1114A>C (p.Asn372His)
c.436A>C (p.Asn146His)
c.775A>C (p.Asn259His)
 dbSNP ExAC
1g.146018244T=CA1198820892HJVc.1114A= (p.Asn372=)
c.436A= (p.Asn146=)
c.775A= (p.Asn259=)
1g.146018245G>ACA10608057HJVc.1113C>T (p.Pro371=)
c.435C>T (p.Pro145=)
c.774C>T (p.Pro258=)
 ClinVar dbSNP
1g.146018245G>CCA420250184HJVc.1113C>G (p.Pro371=)
c.435C>G (p.Pro145=)
c.774C>G (p.Pro258=)
1g.146018245G=CA1198820893HJVc.1113C= (p.Pro371=)
c.435C= (p.Pro145=)
c.774C= (p.Pro258=)
1g.146018245G>TCA420250183HJVc.1113C>A (p.Pro371=)
c.435C>A (p.Pro145=)
c.774C>A (p.Pro258=)
 COSMIC
1g.146018246G>ACA1053961HJVc.1112C>T (p.Pro371Leu)
c.434C>T (p.Pro145Leu)
c.773C>T (p.Pro258Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018246G>CCA29823194HJVc.1112C>G (p.Pro371Arg)
c.434C>G (p.Pro145Arg)
c.773C>G (p.Pro258Arg)
1g.146018246G=CA1198820894HJVc.1112C= (p.Pro371=)
c.434C= (p.Pro145=)
c.773C= (p.Pro258=)
1g.146018246G>TCA29823198HJVc.1112C>A (p.Pro371His)
c.434C>A (p.Pro145His)
c.773C>A (p.Pro258His)
1g.146018247G>ACA342132868HJVc.1111C>T (p.Pro371Ser)
c.433C>T (p.Pro145Ser)
c.772C>T (p.Pro258Ser)
 gnomAD v4 COSMIC
1g.146018247G>CCA342132872HJVc.1111C>G (p.Pro371Ala)
c.433C>G (p.Pro145Ala)
c.772C>G (p.Pro258Ala)
1g.146018247G>TCA342132874HJVc.1111C>A (p.Pro371Thr)
c.433C>A (p.Pro145Thr)
c.772C>A (p.Pro258Thr)
1g.146018248A=CA1143819761HJVc.1110T= (p.Asp370=)
c.432T= (p.Asp144=)
c.771T= (p.Asp257=)
1g.146018248A>CCA29823206HJVc.1110T>G (p.Asp370Glu)
c.432T>G (p.Asp144Glu)
c.771T>G (p.Asp257Glu)
1g.146018248A>GCA1053960HJVc.1110T>C (p.Asp370=)
c.432T>C (p.Asp144=)
c.771T>C (p.Asp257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018248A>TCA29823223HJVc.1110T>A (p.Asp370Glu)
c.432T>A (p.Asp144Glu)
c.771T>A (p.Asp257Glu)
1g.146018249T>ACA342132879HJVc.1109A>T (p.Asp370Val)
c.431A>T (p.Asp144Val)
c.770A>T (p.Asp257Val)
 gnomAD v4
1g.146018249T>CCA342132880HJVc.1109A>G (p.Asp370Gly)
c.431A>G (p.Asp144Gly)
c.770A>G (p.Asp257Gly)
1g.146018249T>GCA342132886HJVc.1109A>C (p.Asp370Ala)
c.431A>C (p.Asp144Ala)
c.770A>C (p.Asp257Ala)
1g.146018250C>ACA29823231HJVc.1108G>T (p.Asp370Tyr)
c.430G>T (p.Asp144Tyr)
c.769G>T (p.Asp257Tyr)
1g.146018250C=CA1198820895HJVc.1108G= (p.Asp370=)
c.430G= (p.Asp144=)
c.769G= (p.Asp257=)
1g.146018250C>GCA29823235HJVc.1108G>C (p.Asp370His)
c.430G>C (p.Asp144His)
c.769G>C (p.Asp257His)
1g.146018250C>TCA1053959HJVc.1108G>A (p.Asp370Asn)
c.430G>A (p.Asp144Asn)
c.769G>A (p.Asp257Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018251A=CA1198820896HJVc.1107T= (p.Gly369=)
c.429T= (p.Gly143=)
c.768T= (p.Gly256=)
1g.146018251A>CCA420250186HJVc.1107T>G (p.Gly369=)
c.429T>G (p.Gly143=)
c.768T>G (p.Gly256=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018251A>GCA420250185HJVc.1107T>C (p.Gly369=)
c.429T>C (p.Gly143=)
c.768T>C (p.Gly256=)
1g.146018251A>TCA420250187HJVc.1107T>A (p.Gly369=)
c.429T>A (p.Gly143=)
c.768T>A (p.Gly256=)
1g.146018252C>ACA342132897HJVc.1106G>T (p.Gly369Val)
c.428G>T (p.Gly143Val)
c.767G>T (p.Gly256Val)
1g.146018252C>GCA342132895HJVc.1106G>C (p.Gly369Ala)
c.428G>C (p.Gly143Ala)
c.767G>C (p.Gly256Ala)
1g.146018252C>TCA342132896HJVc.1106G>A (p.Gly369Asp)
c.428G>A (p.Gly143Asp)
c.767G>A (p.Gly256Asp)
1g.146018253C>ACA342132898HJVc.1105G>T (p.Gly369Cys)
c.427G>T (p.Gly143Cys)
c.766G>T (p.Gly256Cys)
1g.146018253C>GCA342132899HJVc.1105G>C (p.Gly369Arg)
c.427G>C (p.Gly143Arg)
c.766G>C (p.Gly256Arg)
1g.146018253C>TCA342132901HJVc.1105G>A (p.Gly369Ser)
c.427G>A (p.Gly143Ser)
c.766G>A (p.Gly256Ser)
1g.146018254A>CCA420250188HJVc.1104T>G (p.Ser368=)
c.426T>G (p.Ser142=)
c.765T>G (p.Ser255=)
1g.146018254A>GCA420250189HJVc.1104T>C (p.Ser368=)
c.426T>C (p.Ser142=)
c.765T>C (p.Ser255=)
1g.146018254A>TCA420250190HJVc.1104T>A (p.Ser368=)
c.426T>A (p.Ser142=)
c.765T>A (p.Ser255=)
1g.146018255G>ACA342132905HJVc.1103C>T (p.Ser368Phe)
c.425C>T (p.Ser142Phe)
c.764C>T (p.Ser255Phe)
1g.146018255G>CCA342132913HJVc.1103C>G (p.Ser368Cys)
c.425C>G (p.Ser142Cys)
c.764C>G (p.Ser255Cys)
1g.146018255G>TCA342132916HJVc.1103C>A (p.Ser368Tyr)
c.425C>A (p.Ser142Tyr)
c.764C>A (p.Ser255Tyr)
1g.146018256A=CA1198820897HJVc.1102T= (p.Ser368=)
c.424T= (p.Ser142=)
c.763T= (p.Ser255=)
1g.146018256A>CCA342132919HJVc.1102T>G (p.Ser368Ala)
c.424T>G (p.Ser142Ala)
c.763T>G (p.Ser255Ala)
1g.146018256A>GCA342132921HJVc.1102T>C (p.Ser368Pro)
c.424T>C (p.Ser142Pro)
c.763T>C (p.Ser255Pro)
 dbSNP
1g.146018256A>TCA342132923HJVc.1102T>A (p.Ser368Thr)
c.424T>A (p.Ser142Thr)
c.763T>A (p.Ser255Thr)
1g.146018257A>CCA342132934HJVc.1101T>G (p.Ile367Met)
c.423T>G (p.Ile141Met)
c.762T>G (p.Ile254Met)
1g.146018257A>GCA420250198HJVc.1101T>C (p.Ile367=)
c.423T>C (p.Ile141=)
c.762T>C (p.Ile254=)
1g.146018257A>TCA420250199HJVc.1101T>A (p.Ile367=)
c.423T>A (p.Ile141=)
c.762T>A (p.Ile254=)
 ClinVar gnomAD v4
1g.146018258A=CA1198820898HJVc.1100T= (p.Ile367=)
c.422T= (p.Ile141=)
c.761T= (p.Ile254=)
1g.146018258A>CCA342132940HJVc.1100T>G (p.Ile367Ser)
c.422T>G (p.Ile141Ser)
c.761T>G (p.Ile254Ser)
1g.146018258A>GCA29823241HJVc.1100T>C (p.Ile367Thr)
c.422T>C (p.Ile141Thr)
c.761T>C (p.Ile254Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018258A>TCA342132947HJVc.1100T>A (p.Ile367Asn)
c.422T>A (p.Ile141Asn)
c.761T>A (p.Ile254Asn)
1g.146018259T>ACA342132961HJVc.1099A>T (p.Ile367Phe)
c.421A>T (p.Ile141Phe)
c.760A>T (p.Ile254Phe)
1g.146018259T>CCA342132959HJVc.1099A>G (p.Ile367Val)
c.421A>G (p.Ile141Val)
c.760A>G (p.Ile254Val)
1g.146018259T>GCA342132960HJVc.1099A>C (p.Ile367Leu)
c.421A>C (p.Ile141Leu)
c.760A>C (p.Ile254Leu)
1g.146018260T>ACA342132962HJVc.1098A>T (p.Leu366Phe)
c.420A>T (p.Leu140Phe)
c.759A>T (p.Leu253Phe)
1g.146018260T>CCA420250207HJVc.1098A>G (p.Leu366=)
c.420A>G (p.Leu140=)
c.759A>G (p.Leu253=)
 COSMIC
1g.146018260T>GCA342132964HJVc.1098A>C (p.Leu366Phe)
c.420A>C (p.Leu140Phe)
c.759A>C (p.Leu253Phe)
1g.146018261A=CA1198820899HJVc.1097T= (p.Leu366=)
c.419T= (p.Leu140=)
c.758T= (p.Leu253=)
1g.146018261A>CCA342132966HJVc.1097T>G (p.Leu366Ter)
c.419T>G (p.Leu140Ter)
c.758T>G (p.Leu253Ter)
1g.146018261A>GCA342132967HJVc.1097T>C (p.Leu366Ser)
c.419T>C (p.Leu140Ser)
c.758T>C (p.Leu253Ser)
1g.146018261A>TCA342132968HJVc.1097T>A (p.Leu366Ter)
c.419T>A (p.Leu140Ter)
c.758T>A (p.Leu253Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018262A>CCA342132969HJVc.1096T>G (p.Leu366Val)
c.418T>G (p.Leu140Val)
c.757T>G (p.Leu253Val)
1g.146018262A>GCA420250216HJVc.1096T>C (p.Leu366=)
c.418T>C (p.Leu140=)
c.757T>C (p.Leu253=)
1g.146018262A>TCA342132970HJVc.1096T>A (p.Leu366Ile)
c.418T>A (p.Leu140Ile)
c.757T>A (p.Leu253Ile)
1g.146018263A>CCA420250221HJVc.1095T>G (p.Val365=)
c.417T>G (p.Val139=)
c.756T>G (p.Val252=)
1g.146018263A>GCA420250219HJVc.1095T>C (p.Val365=)
c.417T>C (p.Val139=)
c.756T>C (p.Val252=)
1g.146018263A>TCA420250222HJVc.1095T>A (p.Val365=)
c.417T>A (p.Val139=)
c.756T>A (p.Val252=)
1g.146018264A>CCA342132990HJVc.1094T>G (p.Val365Gly)
c.416T>G (p.Val139Gly)
c.755T>G (p.Val252Gly)
1g.146018264A>GCA342132974HJVc.1094T>C (p.Val365Ala)
c.416T>C (p.Val139Ala)
c.755T>C (p.Val252Ala)
1g.146018264A>TCA342132985HJVc.1094T>A (p.Val365Asp)
c.416T>A (p.Val139Asp)
c.755T>A (p.Val252Asp)
1g.146018264_146018265delinsACCA1198820900HJVc.1093_1094delinsGT (p.Val365=)
c.415_416delinsGT (p.Val139=)
c.754_755delinsGT (p.Val252=)
1g.146018265delCA888578683HJVc.1093del (p.Val365PhefsTer2)
c.415del (p.Val139PhefsTer2)
c.754del (p.Val252PhefsTer2)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018265C>ACA342132995HJVc.1093G>T (p.Val365Phe)
c.415G>T (p.Val139Phe)
c.754G>T (p.Val252Phe)
1g.146018265C>GCA342133006HJVc.1093G>C (p.Val365Leu)
c.415G>C (p.Val139Leu)
c.754G>C (p.Val252Leu)
1g.146018265C>TCA342133010HJVc.1093G>A (p.Val365Ile)
c.415G>A (p.Val139Ile)
c.754G>A (p.Val252Ile)
 gnomAD v4
1g.146018266A>CCA342133012HJVc.1092T>G (p.Asp364Glu)
c.414T>G (p.Asp138Glu)
c.753T>G (p.Asp251Glu)
1g.146018266A>GCA420250229HJVc.1092T>C (p.Asp364=)
c.414T>C (p.Asp138=)
c.753T>C (p.Asp251=)
 COSMIC
1g.146018266A>TCA342133018HJVc.1092T>A (p.Asp364Glu)
c.414T>A (p.Asp138Glu)
c.753T>A (p.Asp251Glu)
1g.146018267T>ACA342133021HJVc.1091A>T (p.Asp364Val)
c.413A>T (p.Asp138Val)
c.752A>T (p.Asp251Val)
1g.146018267T>CCA342133025HJVc.1091A>G (p.Asp364Gly)
c.413A>G (p.Asp138Gly)
c.752A>G (p.Asp251Gly)
1g.146018267T>GCA342133024HJVc.1091A>C (p.Asp364Ala)
c.413A>C (p.Asp138Ala)
c.752A>C (p.Asp251Ala)
1g.146018268C>ACA342133032HJVc.1090G>T (p.Asp364Tyr)
c.412G>T (p.Asp138Tyr)
c.751G>T (p.Asp251Tyr)
1g.146018268C>GCA342133042HJVc.1090G>C (p.Asp364His)
c.412G>C (p.Asp138His)
c.751G>C (p.Asp251His)
1g.146018268C>TCA342133044HJVc.1090G>A (p.Asp364Asn)
c.412G>A (p.Asp138Asn)
c.751G>A (p.Asp251Asn)
 gnomAD v4
1g.146018269A>CCA342133052HJVc.1089T>G (p.Phe363Leu)
c.411T>G (p.Phe137Leu)
c.750T>G (p.Phe250Leu)
1g.146018269A>GCA420250236HJVc.1089T>C (p.Phe363=)
c.411T>C (p.Phe137=)
c.750T>C (p.Phe250=)
1g.146018269A>TCA342133057HJVc.1089T>A (p.Phe363Leu)
c.411T>A (p.Phe137Leu)
c.750T>A (p.Phe250Leu)
1g.146018270A>CCA342133060HJVc.1088T>G (p.Phe363Cys)
c.410T>G (p.Phe137Cys)
c.749T>G (p.Phe250Cys)
1g.146018270A>GCA342133061HJVc.1088T>C (p.Phe363Ser)
c.410T>C (p.Phe137Ser)
c.749T>C (p.Phe250Ser)
1g.146018270A>TCA342133064HJVc.1088T>A (p.Phe363Tyr)
c.410T>A (p.Phe137Tyr)
c.749T>A (p.Phe250Tyr)
1g.146018271A>CCA342133072HJVc.1087T>G (p.Phe363Val)
c.409T>G (p.Phe137Val)
c.748T>G (p.Phe250Val)
1g.146018271A>GCA342133079HJVc.1087T>C (p.Phe363Leu)
c.409T>C (p.Phe137Leu)
c.748T>C (p.Phe250Leu)
1g.146018271A>TCA342133081HJVc.1087T>A (p.Phe363Ile)
c.409T>A (p.Phe137Ile)
c.748T>A (p.Phe250Ile)
1g.146018272G>ACA420250237HJVc.1086C>T (p.Val362=)
c.408C>T (p.Val136=)
c.747C>T (p.Val249=)
 dbSNP gnomAD v2 gnomAD v4
1g.146018272G>CCA420250239HJVc.1086C>G (p.Val362=)
c.408C>G (p.Val136=)
c.747C>G (p.Val249=)
1g.146018272G=CA1198820901HJVc.1086C= (p.Val362=)
c.408C= (p.Val136=)
c.747C= (p.Val249=)
1g.146018272G>TCA420250238HJVc.1086C>A (p.Val362=)
c.408C>A (p.Val136=)
c.747C>A (p.Val249=)
1g.146018273A>CCA342133082HJVc.1085T>G (p.Val362Gly)
c.407T>G (p.Val136Gly)
c.746T>G (p.Val249Gly)
1g.146018273A>GCA342133084HJVc.1085T>C (p.Val362Ala)
c.407T>C (p.Val136Ala)
c.746T>C (p.Val249Ala)
1g.146018273A>TCA342133083HJVc.1085T>A (p.Val362Asp)
c.407T>A (p.Val136Asp)
c.746T>A (p.Val249Asp)
1g.146018274C>ACA342133085HJVc.1084G>T (p.Val362Phe)
c.406G>T (p.Val136Phe)
c.745G>T (p.Val249Phe)
1g.146018274C=CA1198820902HJVc.1084G= (p.Val362=)
c.406G= (p.Val136=)
c.745G= (p.Val249=)
1g.146018274C>GCA342133086HJVc.1084G>C (p.Val362Leu)
c.406G>C (p.Val136Leu)
c.745G>C (p.Val249Leu)
1g.146018274C>TCA342133087HJVc.1084G>A (p.Val362Ile)
c.406G>A (p.Val136Ile)
c.745G>A (p.Val249Ile)
 ClinVar dbSNP gnomAD v4
1g.146018275A>CCA342133089HJVc.1083T>G (p.Cys361Trp)
c.405T>G (p.Cys135Trp)
c.744T>G (p.Cys248Trp)
 gnomAD v4
1g.146018275A>GCA420250240HJVc.1083T>C (p.Cys361=)
c.405T>C (p.Cys135=)
c.744T>C (p.Cys248=)
1g.146018275A>TCA342133096HJVc.1083T>A (p.Cys361Ter)
c.405T>A (p.Cys135Ter)
c.744T>A (p.Cys248Ter)
1g.146018276C>ACA342133113HJVc.1082G>T (p.Cys361Phe)
c.404G>T (p.Cys135Phe)
c.743G>T (p.Cys248Phe)
1g.146018276C>GCA342133109HJVc.1082G>C (p.Cys361Ser)
c.404G>C (p.Cys135Ser)
c.743G>C (p.Cys248Ser)
1g.146018276C>TCA342133105HJVc.1082G>A (p.Cys361Tyr)
c.404G>A (p.Cys135Tyr)
c.743G>A (p.Cys248Tyr)
1g.146018277A>CCA342133114HJVc.1081T>G (p.Cys361Gly)
c.403T>G (p.Cys135Gly)
c.742T>G (p.Cys248Gly)
1g.146018277A>GCA342133116HJVc.1081T>C (p.Cys361Arg)
c.403T>C (p.Cys135Arg)
c.742T>C (p.Cys248Arg)
 gnomAD v4
1g.146018277A>TCA342133118HJVc.1081T>A (p.Cys361Ser)
c.403T>A (p.Cys135Ser)
c.742T>A (p.Cys248Ser)
1g.146018277_146018278delinsAGCA1198820903HJVc.1080_1081delinsCT (p.Ser360=)
c.402_403delinsCT (p.Ser134=)
c.741_742delinsCT (p.Ser247=)
1g.146018278G>ACA420250241HJVc.1080C>T (p.Ser360=)
c.402C>T (p.Ser134=)
c.741C>T (p.Ser247=)
1g.146018278G>CCA420250242HJVc.1080C>G (p.Ser360=)
c.402C>G (p.Ser134=)
c.741C>G (p.Ser247=)
1g.146018278G>TCA420250243HJVc.1080C>A (p.Ser360=)
c.402C>A (p.Ser134=)
c.741C>A (p.Ser247=)
1g.146018279delCA526254236HJVc.1080del (p.Cys361ValfsTer6)
c.402del (p.Cys135ValfsTer6)
c.741del (p.Cys248ValfsTer6)
 dbSNP gnomAD v2 gnomAD v4
1g.146018279G>ACA342133122HJVc.1079C>T (p.Ser360Phe)
c.401C>T (p.Ser134Phe)
c.740C>T (p.Ser247Phe)
 gnomAD v4 COSMIC
1g.146018279G>CCA342133125HJVc.1079C>G (p.Ser360Cys)
c.401C>G (p.Ser134Cys)
c.740C>G (p.Ser247Cys)
1g.146018279G>TCA342133127HJVc.1079C>A (p.Ser360Tyr)
c.401C>A (p.Ser134Tyr)
c.740C>A (p.Ser247Tyr)
 dbSNP
1g.146018280A>CCA342133136HJVc.1078T>G (p.Ser360Ala)
c.400T>G (p.Ser134Ala)
c.739T>G (p.Ser247Ala)
1g.146018280A>GCA342133134HJVc.1078T>C (p.Ser360Pro)
c.400T>C (p.Ser134Pro)
c.739T>C (p.Ser247Pro)
1g.146018280A>TCA342133135HJVc.1078T>A (p.Ser360Thr)
c.400T>A (p.Ser134Thr)
c.739T>A (p.Ser247Thr)
1g.146018281A>CCA342133137HJVc.1077T>G (p.His359Gln)
c.399T>G (p.His133Gln)
c.738T>G (p.His246Gln)
1g.146018281A>GCA420250244HJVc.1077T>C (p.His359=)
c.399T>C (p.His133=)
c.738T>C (p.His246=)
1g.146018281A>TCA342133139HJVc.1077T>A (p.His359Gln)
c.399T>A (p.His133Gln)
c.738T>A (p.His246Gln)
1g.146018282T>ACA342133151HJVc.1076A>T (p.His359Leu)
c.398A>T (p.His133Leu)
c.737A>T (p.His246Leu)
1g.146018282T>CCA342133152HJVc.1076A>G (p.His359Arg)
c.398A>G (p.His133Arg)
c.737A>G (p.His246Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018282T>GCA342133153HJVc.1076A>C (p.His359Pro)
c.398A>C (p.His133Pro)
c.737A>C (p.His246Pro)
1g.146018282T=CA1198820904HJVc.1076A= (p.His359=)
c.398A= (p.His133=)
c.737A= (p.His246=)
1g.146018283G>ACA342133154HJVc.1075C>T (p.His359Tyr)
c.397C>T (p.His133Tyr)
c.736C>T (p.His246Tyr)
1g.146018283G>CCA342133158HJVc.1075C>G (p.His359Asp)
c.397C>G (p.His133Asp)
c.736C>G (p.His246Asp)
1g.146018283G>TCA342133161HJVc.1075C>A (p.His359Asn)
c.397C>A (p.His133Asn)
c.736C>A (p.His246Asn)
1g.146018284G>ACA420250245HJVc.1074C>T (p.Phe358=)
c.396C>T (p.Phe132=)
c.735C>T (p.Phe245=)
 ClinVar dbSNP
1g.146018284G>CCA342133164HJVc.1074C>G (p.Phe358Leu)
c.396C>G (p.Phe132Leu)
c.735C>G (p.Phe245Leu)
1g.146018284G>TCA342133165HJVc.1074C>A (p.Phe358Leu)
c.396C>A (p.Phe132Leu)
c.735C>A (p.Phe245Leu)
1g.146018285A>CCA342133167HJVc.1073T>G (p.Phe358Cys)
c.395T>G (p.Phe132Cys)
c.734T>G (p.Phe245Cys)
1g.146018285A>GCA342133180HJVc.1073T>C (p.Phe358Ser)
c.395T>C (p.Phe132Ser)
c.734T>C (p.Phe245Ser)
1g.146018285A>TCA342133188HJVc.1073T>A (p.Phe358Tyr)
c.395T>A (p.Phe132Tyr)
c.734T>A (p.Phe245Tyr)
1g.146018286A>CCA342133192HJVc.1072T>G (p.Phe358Val)
c.394T>G (p.Phe132Val)
c.733T>G (p.Phe245Val)
1g.146018286A>GCA342133199HJVc.1072T>C (p.Phe358Leu)
c.394T>C (p.Phe132Leu)
c.733T>C (p.Phe245Leu)
1g.146018286A>TCA342133195HJVc.1072T>A (p.Phe358Ile)
c.394T>A (p.Phe132Ile)
c.733T>A (p.Phe245Ile)
1g.146018287G>ACA420250246HJVc.1071C>T (p.Tyr357=)
c.393C>T (p.Tyr131=)
c.732C>T (p.Tyr244=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018287G>CCA342133210HJVc.1071C>G (p.Tyr357Ter)
c.393C>G (p.Tyr131Ter)
c.732C>G (p.Tyr244Ter)
1g.146018287G=CA1198820905HJVc.1071C= (p.Tyr357=)
c.393C= (p.Tyr131=)
c.732C= (p.Tyr244=)
1g.146018287G>TCA342133218HJVc.1071C>A (p.Tyr357Ter)
c.393C>A (p.Tyr131Ter)
c.732C>A (p.Tyr244Ter)
1g.146018288T>ACA342133222HJVc.1070A>T (p.Tyr357Phe)
c.392A>T (p.Tyr131Phe)
c.731A>T (p.Tyr244Phe)
1g.146018288T>CCA342133224HJVc.1070A>G (p.Tyr357Cys)
c.392A>G (p.Tyr131Cys)
c.731A>G (p.Tyr244Cys)
1g.146018288T>GCA342133229HJVc.1070A>C (p.Tyr357Ser)
c.392A>C (p.Tyr131Ser)
c.731A>C (p.Tyr244Ser)
1g.146018289A>CCA342133235HJVc.1069T>G (p.Tyr357Asp)
c.391T>G (p.Tyr131Asp)
c.730T>G (p.Tyr244Asp)
1g.146018289A>GCA342133237HJVc.1069T>C (p.Tyr357His)
c.391T>C (p.Tyr131His)
c.730T>C (p.Tyr244His)
 gnomAD v4
1g.146018289A>TCA342133240HJVc.1069T>A (p.Tyr357Asn)
c.391T>A (p.Tyr131Asn)
c.730T>A (p.Tyr244Asn)
1g.146018289_146018308dupCA2647575248HJVc.1050_1069dup (p.Tyr357CysfsTer17)
c.372_391dup (p.Tyr131CysfsTer17)
c.711_730dup (p.Tyr244CysfsTer17)
 gnomAD v4
1g.146018290A=CA1142275298HJVc.1068T= (p.Ala356=)
c.390T= (p.Ala130=)
c.729T= (p.Ala243=)
1g.146018290A>CCA342133243HJVc.1068T>G (p.Ala356=)
c.390T>G (p.Ala130=)
c.729T>G (p.Ala243=)
 dbSNP
1g.146018290A>GCA1053958HJVc.1068T>C (p.Ala356=)
c.390T>C (p.Ala130=)
c.729T>C (p.Ala243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018290A>TCA342133246HJVc.1068T>A (p.Ala356=)
c.390T>A (p.Ala130=)
c.729T>A (p.Ala243=)
1g.146018291G>ACA342133251HJVc.1067C>T (p.Ala356Val)
c.389C>T (p.Ala130Val)
c.728C>T (p.Ala243Val)
1g.146018291G>CCA342133254HJVc.1067C>G (p.Ala356Gly)
c.389C>G (p.Ala130Gly)
c.728C>G (p.Ala243Gly)
1g.146018291G=CA1198820906HJVc.1067C= (p.Ala356=)
c.389C= (p.Ala130=)
c.728C= (p.Ala243=)
1g.146018291G>TCA342133255HJVc.1067C>A (p.Ala356Asp)
c.389C>A (p.Ala130Asp)
c.728C>A (p.Ala243Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.146018292C>ACA342133257HJVc.1066G>T (p.Ala356Ser)
c.388G>T (p.Ala130Ser)
c.727G>T (p.Ala243Ser)
1g.146018292C>GCA342133260HJVc.1066G>C (p.Ala356Pro)
c.388G>C (p.Ala130Pro)
c.727G>C (p.Ala243Pro)
1g.146018292C>TCA342133259HJVc.1066G>A (p.Ala356Thr)
c.388G>A (p.Ala130Thr)
c.727G>A (p.Ala243Thr)
 dbSNP
1g.146018293A=CA1198820907HJVc.1065T= (p.Asp355=)
c.387T= (p.Asp129=)
c.726T= (p.Asp242=)
1g.146018293A>CCA342133262HJVc.1065T>G (p.Asp355Glu)
c.387T>G (p.Asp129Glu)
c.726T>G (p.Asp242Glu)
1g.146018293A>GCA420250247HJVc.1065T>C (p.Asp355=)
c.387T>C (p.Asp129=)
c.726T>C (p.Asp242=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.146018293A>TCA342133266HJVc.1065T>A (p.Asp355Glu)
c.387T>A (p.Asp129Glu)
c.726T>A (p.Asp242Glu)
1g.146018294T>ACA342133276HJVc.1064A>T (p.Asp355Val)
c.386A>T (p.Asp129Val)
c.725A>T (p.Asp242Val)
 dbSNP
1g.146018294T>CCA342133280HJVc.1064A>G (p.Asp355Gly)
c.386A>G (p.Asp129Gly)
c.725A>G (p.Asp242Gly)
1g.146018294T>GCA342133282HJVc.1064A>C (p.Asp355Ala)
c.386A>C (p.Asp129Ala)
c.725A>C (p.Asp242Ala)
 gnomAD v4
1g.146018294T=CA1198820908HJVc.1064A= (p.Asp355=)
c.386A= (p.Asp129=)
c.725A= (p.Asp242=)
1g.146018295C>ACA1053957HJVc.1063G>T (p.Asp355Tyr)
c.385G>T (p.Asp129Tyr)
c.724G>T (p.Asp242Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018295C=CA1198820909HJVc.1063G= (p.Asp355=)
c.385G= (p.Asp129=)
c.724G= (p.Asp242=)
1g.146018295C>GCA29823257HJVc.1063G>C (p.Asp355His)
c.385G>C (p.Asp129His)
c.724G>C (p.Asp242His)
1g.146018295C>TCA29823248HJVc.1063G>A (p.Asp355Asn)
c.385G>A (p.Asp129Asn)
c.724G>A (p.Asp242Asn)
 dbSNP gnomAD v2
1g.146018296T>ACA342133291HJVc.1062A>T (p.Glu354Asp)
c.384A>T (p.Glu128Asp)
c.723A>T (p.Glu241Asp)
1g.146018296T>CCA420250248HJVc.1062A>G (p.Glu354=)
c.384A>G (p.Glu128=)
c.723A>G (p.Glu241=)
1g.146018296T>GCA342133292HJVc.1062A>C (p.Glu354Asp)
c.384A>C (p.Glu128Asp)
c.723A>C (p.Glu241Asp)
1g.146018297T>ACA342133293HJVc.1061A>T (p.Glu354Val)
c.383A>T (p.Glu128Val)
c.722A>T (p.Glu241Val)
1g.146018297T>CCA342133300HJVc.1061A>G (p.Glu354Gly)
c.383A>G (p.Glu128Gly)
c.722A>G (p.Glu241Gly)
1g.146018297T>GCA342133295HJVc.1061A>C (p.Glu354Ala)
c.383A>C (p.Glu128Ala)
c.722A>C (p.Glu241Ala)
1g.146018298C>ACA342133303HJVc.1060G>T (p.Glu354Ter)
c.382G>T (p.Glu128Ter)
c.721G>T (p.Glu241Ter)
1g.146018298C>GCA342133311HJVc.1060G>C (p.Glu354Gln)
c.382G>C (p.Glu128Gln)
c.721G>C (p.Glu241Gln)
1g.146018298C>TCA342133309HJVc.1060G>A (p.Glu354Lys)
c.382G>A (p.Glu128Lys)
c.721G>A (p.Glu241Lys)
1g.146018299C>ACA420250251HJVc.1059G>T (p.Val353=)
c.381G>T (p.Val127=)
c.720G>T (p.Val240=)
1g.146018299C>GCA420250252HJVc.1059G>C (p.Val353=)
c.381G>C (p.Val127=)
c.720G>C (p.Val240=)
1g.146018299C>TCA420250250HJVc.1059G>A (p.Val353=)
c.381G>A (p.Val127=)
c.720G>A (p.Val240=)
1g.146018300A>CCA342133312HJVc.1058T>G (p.Val353Gly)
c.380T>G (p.Val127Gly)
c.719T>G (p.Val240Gly)
1g.146018300A>GCA342133314HJVc.1058T>C (p.Val353Ala)
c.380T>C (p.Val127Ala)
c.719T>C (p.Val240Ala)
1g.146018300A>TCA342133313HJVc.1058T>A (p.Val353Glu)
c.380T>A (p.Val127Glu)
c.719T>A (p.Val240Glu)
1g.146018301C>ACA342133320HJVc.1057G>T (p.Val353Leu)
c.379G>T (p.Val127Leu)
c.718G>T (p.Val240Leu)
1g.146018301C>GCA342133325HJVc.1057G>C (p.Val353Leu)
c.379G>C (p.Val127Leu)
c.718G>C (p.Val240Leu)
1g.146018301C>TCA342133328HJVc.1057G>A (p.Val353Met)
c.379G>A (p.Val127Met)
c.718G>A (p.Val240Met)
1g.146018302T>ACA420250256HJVc.1056A>T (p.Pro352=)
c.378A>T (p.Pro126=)
c.717A>T (p.Pro239=)
1g.146018302T>CCA420250255HJVc.1056A>G (p.Pro352=)
c.378A>G (p.Pro126=)
c.717A>G (p.Pro239=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018302T>GCA420250254HJVc.1056A>C (p.Pro352=)
c.378A>C (p.Pro126=)
c.717A>C (p.Pro239=)
1g.146018302T=CA1198820910HJVc.1056A= (p.Pro352=)
c.378A= (p.Pro126=)
c.717A= (p.Pro239=)
1g.146018303G>ACA1053956HJVc.1055C>T (p.Pro352Leu)
c.377C>T (p.Pro126Leu)
c.716C>T (p.Pro239Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018303G>CCA29823263HJVc.1055C>G (p.Pro352Arg)
c.377C>G (p.Pro126Arg)
c.716C>G (p.Pro239Arg)
1g.146018303G=CA1143670587HJVc.1055C= (p.Pro352=)
c.377C= (p.Pro126=)
c.716C= (p.Pro239=)
1g.146018303G>TCA29823270HJVc.1055C>A (p.Pro352Gln)
c.377C>A (p.Pro126Gln)
c.716C>A (p.Pro239Gln)
1g.146018304G>ACA342133346HJVc.1054C>T (p.Pro352Ser)
c.376C>T (p.Pro126Ser)
c.715C>T (p.Pro239Ser)
1g.146018304G>CCA342133348HJVc.1054C>G (p.Pro352Ala)
c.376C>G (p.Pro126Ala)
c.715C>G (p.Pro239Ala)
1g.146018304G>TCA342133351HJVc.1054C>A (p.Pro352Thr)
c.376C>A (p.Pro126Thr)
c.715C>A (p.Pro239Thr)
1g.146018305A>CCA420603226HJVc.1053T>G (p.Leu351=)
c.375T>G (p.Leu125=)
c.714T>G (p.Leu238=)
1g.146018305A>GCA420603225HJVc.1053T>C (p.Leu351=)
c.375T>C (p.Leu125=)
c.714T>C (p.Leu238=)
 gnomAD v4
1g.146018305A>TCA420603227HJVc.1053T>A (p.Leu351=)
c.375T>A (p.Leu125=)
c.714T>A (p.Leu238=)
1g.146018306A>CCA342134070HJVc.1052T>G (p.Leu351Arg)
c.374T>G (p.Leu125Arg)
c.713T>G (p.Leu238Arg)
1g.146018306A>GCA342134064HJVc.1052T>C (p.Leu351Pro)
c.374T>C (p.Leu125Pro)
c.713T>C (p.Leu238Pro)
1g.146018306A>TCA342134062HJVc.1052T>A (p.Leu351His)
c.374T>A (p.Leu125His)
c.713T>A (p.Leu238His)

Number of alleles fetched