Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197055729G>ACA344000916F13Bc.1340C>T (p.Pro447Leu)
c.95C>T (p.Pro32Leu)
c.1337C>T (p.Pro446Leu)
c.1244C>T (p.Pro415Leu)
c.1196C>T (p.Pro399Leu)
 gnomAD v4 COSMIC
1g.197055729G>CCA344000918F13Bc.1340C>G (p.Pro447Arg)
c.95C>G (p.Pro32Arg)
c.1337C>G (p.Pro446Arg)
c.1244C>G (p.Pro415Arg)
c.1196C>G (p.Pro399Arg)
1g.197055729G>TCA344000919F13Bc.1340C>A (p.Pro447Gln)
c.95C>A (p.Pro32Gln)
c.1337C>A (p.Pro446Gln)
c.1244C>A (p.Pro415Gln)
c.1196C>A (p.Pro399Gln)
1g.197055729_197055732delinsGGGGCA1140532807F13Bc.1337_1340delinsCCCC (p.Ser446=)
c.92_95delinsCCCC (p.Ser31=)
c.1334_1337delinsCCCC (p.Ser445=)
c.1241_1244delinsCCCC (p.Ser414=)
c.1193_1196delinsCCCC (p.Ser398=)
1g.197055732dupCA35873302F13Bc.1340dup (p.Pro448ThrfsTer10)
c.95dup (p.Pro33ThrfsTer10)
c.1337dup (p.Pro447ThrfsTer10)
c.1244dup (p.Pro416ThrfsTer10)
c.1196dup (p.Pro400ThrfsTer10)
 dbSNP
1g.197055730G>ACA344000921F13Bc.1339C>T (p.Pro447Ser)
c.94C>T (p.Pro32Ser)
c.1336C>T (p.Pro446Ser)
c.1243C>T (p.Pro415Ser)
c.1195C>T (p.Pro399Ser)
 gnomAD v4
1g.197055730G>CCA344000923F13Bc.1339C>G (p.Pro447Ala)
c.94C>G (p.Pro32Ala)
c.1336C>G (p.Pro446Ala)
c.1243C>G (p.Pro415Ala)
c.1195C>G (p.Pro399Ala)
1g.197055730G>TCA344000924F13Bc.1339C>A (p.Pro447Thr)
c.94C>A (p.Pro32Thr)
c.1336C>A (p.Pro446Thr)
c.1243C>A (p.Pro415Thr)
c.1195C>A (p.Pro399Thr)
 gnomAD v4
1g.197055731G>ACA422667771F13Bc.1338C>T (p.Ser446=)
c.93C>T (p.Ser31=)
c.1335C>T (p.Ser445=)
c.1242C>T (p.Ser414=)
c.1194C>T (p.Ser398=)
1g.197055731G>CCA422667772F13Bc.1338C>G (p.Ser446=)
c.93C>G (p.Ser31=)
c.1335C>G (p.Ser445=)
c.1242C>G (p.Ser414=)
c.1194C>G (p.Ser398=)
 dbSNP
1g.197055731G=CA1217911206F13Bc.1338C= (p.Ser446=)
c.93C= (p.Ser31=)
c.1335C= (p.Ser445=)
c.1242C= (p.Ser414=)
c.1194C= (p.Ser398=)
1g.197055731G>TCA422667773F13Bc.1338C>A (p.Ser446=)
c.93C>A (p.Ser31=)
c.1335C>A (p.Ser445=)
c.1242C>A (p.Ser414=)
c.1194C>A (p.Ser398=)
 gnomAD v4
1g.197055732G>ACA344000927F13Bc.1337C>T (p.Ser446Phe)
c.92C>T (p.Ser31Phe)
c.1334C>T (p.Ser445Phe)
c.1241C>T (p.Ser414Phe)
c.1193C>T (p.Ser398Phe)
 COSMIC
1g.197055732G>CCA344000930F13Bc.1337C>G (p.Ser446Cys)
c.92C>G (p.Ser31Cys)
c.1334C>G (p.Ser445Cys)
c.1241C>G (p.Ser414Cys)
c.1193C>G (p.Ser398Cys)
1g.197055732G=CA1217911207F13Bc.1337C= (p.Ser446=)
c.92C= (p.Ser31=)
c.1334C= (p.Ser445=)
c.1241C= (p.Ser414=)
c.1193C= (p.Ser398=)
1g.197055732G>TCA344000931F13Bc.1337C>A (p.Ser446Tyr)
c.92C>A (p.Ser31Tyr)
c.1334C>A (p.Ser445Tyr)
c.1241C>A (p.Ser414Tyr)
c.1193C>A (p.Ser398Tyr)
 dbSNP gnomAD v4
1g.197055732_197055733delinsGACA1217911208F13Bc.1336_1337delinsTC (p.Ser446=)
c.91_92delinsTC (p.Ser31=)
c.1333_1334delinsTC (p.Ser445=)
c.1240_1241delinsTC (p.Ser414=)
c.1192_1193delinsTC (p.Ser398=)
1g.197055733delCA916374591F13Bc.1336del (p.Ser446ProfsTer16)
c.91del (p.Ser31ProfsTer16)
c.1333del (p.Ser445ProfsTer16)
c.1240del (p.Ser414ProfsTer16)
c.1192del (p.Ser398ProfsTer16)
 dbSNP gnomAD v4
1g.197055733A>CCA344000933F13Bc.1336T>G (p.Ser446Ala)
c.91T>G (p.Ser31Ala)
c.1333T>G (p.Ser445Ala)
c.1240T>G (p.Ser414Ala)
c.1192T>G (p.Ser398Ala)
1g.197055733A>GCA344000937F13Bc.1336T>C (p.Ser446Pro)
c.91T>C (p.Ser31Pro)
c.1333T>C (p.Ser445Pro)
c.1240T>C (p.Ser414Pro)
c.1192T>C (p.Ser398Pro)
 gnomAD v4
1g.197055733A>TCA344000935F13Bc.1336T>A (p.Ser446Thr)
c.91T>A (p.Ser31Thr)
c.1333T>A (p.Ser445Thr)
c.1240T>A (p.Ser414Thr)
c.1192T>A (p.Ser398Thr)
1g.197055734T>ACA422667774F13Bc.1335A>T (p.Ser445=)
c.90A>T (p.Ser30=)
c.1332A>T (p.Ser444=)
c.1239A>T (p.Ser413=)
c.1191A>T (p.Ser397=)
1g.197055734T>CCA422667776F13Bc.1335A>G (p.Ser445=)
c.90A>G (p.Ser30=)
c.1332A>G (p.Ser444=)
c.1239A>G (p.Ser413=)
c.1191A>G (p.Ser397=)
1g.197055734T>GCA422667775F13Bc.1335A>C (p.Ser445=)
c.90A>C (p.Ser30=)
c.1332A>C (p.Ser444=)
c.1239A>C (p.Ser413=)
c.1191A>C (p.Ser397=)
1g.197055735G>ACA344000938F13Bc.1334C>T (p.Ser445Leu)
c.89C>T (p.Ser30Leu)
c.1331C>T (p.Ser444Leu)
c.1238C>T (p.Ser413Leu)
c.1190C>T (p.Ser397Leu)
1g.197055735G>CCA344000940F13Bc.1334C>G (p.Ser445Ter)
c.89C>G (p.Ser30Ter)
c.1331C>G (p.Ser444Ter)
c.1238C>G (p.Ser413Ter)
c.1190C>G (p.Ser397Ter)
1g.197055735G>TCA344000941F13Bc.1334C>A (p.Ser445Ter)
c.89C>A (p.Ser30Ter)
c.1331C>A (p.Ser444Ter)
c.1238C>A (p.Ser413Ter)
c.1190C>A (p.Ser397Ter)
 gnomAD v4
1g.197055736A=CA1217911209F13Bc.1333T= (p.Ser445=)
c.88T= (p.Ser30=)
c.1330T= (p.Ser444=)
c.1237T= (p.Ser413=)
c.1189T= (p.Ser397=)
1g.197055736A>CCA344000945F13Bc.1333T>G (p.Ser445Ala)
c.88T>G (p.Ser30Ala)
c.1330T>G (p.Ser444Ala)
c.1237T>G (p.Ser413Ala)
c.1189T>G (p.Ser397Ala)
 dbSNP gnomAD v4
1g.197055736A>GCA344000948F13Bc.1333T>C (p.Ser445Pro)
c.88T>C (p.Ser30Pro)
c.1330T>C (p.Ser444Pro)
c.1237T>C (p.Ser413Pro)
c.1189T>C (p.Ser397Pro)
1g.197055736A>TCA344000949F13Bc.1333T>A (p.Ser445Thr)
c.88T>A (p.Ser30Thr)
c.1330T>A (p.Ser444Thr)
c.1237T>A (p.Ser413Thr)
c.1189T>A (p.Ser397Thr)
1g.197055737_197055739delCA2574105144F13Bc.1331_1333del (p.Trp444del)
c.86_88del (p.Trp29del)
c.1328_1330del (p.Trp443del)
c.1235_1237del (p.Trp412del)
c.1187_1189del (p.Trp396del)
1g.197055737C>ACA344000950F13Bc.1332G>T (p.Trp444Cys)
c.87G>T (p.Trp29Cys)
c.1329G>T (p.Trp443Cys)
c.1236G>T (p.Trp412Cys)
c.1188G>T (p.Trp396Cys)
1g.197055737C>GCA344000951F13Bc.1332G>C (p.Trp444Cys)
c.87G>C (p.Trp29Cys)
c.1329G>C (p.Trp443Cys)
c.1236G>C (p.Trp412Cys)
c.1188G>C (p.Trp396Cys)
1g.197055737C>TCA344000952F13Bc.1332G>A (p.Trp444Ter)
c.87G>A (p.Trp29Ter)
c.1329G>A (p.Trp443Ter)
c.1236G>A (p.Trp412Ter)
c.1188G>A (p.Trp396Ter)
1g.197055738C>ACA344000955F13Bc.1331G>T (p.Trp444Leu)
c.86G>T (p.Trp29Leu)
c.1328G>T (p.Trp443Leu)
c.1235G>T (p.Trp412Leu)
c.1187G>T (p.Trp396Leu)
1g.197055738C>GCA344000957F13Bc.1331G>C (p.Trp444Ser)
c.86G>C (p.Trp29Ser)
c.1328G>C (p.Trp443Ser)
c.1235G>C (p.Trp412Ser)
c.1187G>C (p.Trp396Ser)
1g.197055738C>TCA344000954F13Bc.1331G>A (p.Trp444Ter)
c.86G>A (p.Trp29Ter)
c.1328G>A (p.Trp443Ter)
c.1235G>A (p.Trp412Ter)
c.1187G>A (p.Trp396Ter)
1g.197055739A>CCA344000958F13Bc.1330T>G (p.Trp444Gly)
c.85T>G (p.Trp29Gly)
c.1327T>G (p.Trp443Gly)
c.1234T>G (p.Trp412Gly)
c.1186T>G (p.Trp396Gly)
1g.197055739A>GCA344000961F13Bc.1330T>C (p.Trp444Arg)
c.85T>C (p.Trp29Arg)
c.1327T>C (p.Trp443Arg)
c.1234T>C (p.Trp412Arg)
c.1186T>C (p.Trp396Arg)
1g.197055739A>TCA344000962F13Bc.1330T>A (p.Trp444Arg)
c.85T>A (p.Trp29Arg)
c.1327T>A (p.Trp443Arg)
c.1234T>A (p.Trp412Arg)
c.1186T>A (p.Trp396Arg)
1g.197055740T>ACA344000963F13Bc.1329A>T (p.Lys443Asn)
c.84A>T (p.Lys28Asn)
c.1326A>T (p.Lys442Asn)
c.1233A>T (p.Lys411Asn)
c.1185A>T (p.Lys395Asn)
1g.197055740T>CCA35873304F13Bc.1329A>G (p.Lys443=)
c.84A>G (p.Lys28=)
c.1326A>G (p.Lys442=)
c.1233A>G (p.Lys411=)
c.1185A>G (p.Lys395=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197055740T>GCA344000967F13Bc.1329A>C (p.Lys443Asn)
c.84A>C (p.Lys28Asn)
c.1326A>C (p.Lys442Asn)
c.1233A>C (p.Lys411Asn)
c.1185A>C (p.Lys395Asn)
1g.197055740T=CA1140604397F13Bc.1329A= (p.Lys443=)
c.84A= (p.Lys28=)
c.1326A= (p.Lys442=)
c.1233A= (p.Lys411=)
c.1185A= (p.Lys395=)
1g.197055743delCA2571202990F13Bc.1329del (p.Lys443AsnfsTer19)
c.84del (p.Lys28AsnfsTer19)
c.1326del (p.Lys442AsnfsTer19)
c.1233del (p.Lys411AsnfsTer19)
c.1185del (p.Lys395AsnfsTer19)
1g.197055741T>ACA35873306F13Bc.1328A>T (p.Lys443Ile)
c.83A>T (p.Lys28Ile)
c.1325A>T (p.Lys442Ile)
c.1232A>T (p.Lys411Ile)
c.1184A>T (p.Lys395Ile)
 dbSNP
1g.197055741T>CCA344000980F13Bc.1328A>G (p.Lys443Arg)
c.83A>G (p.Lys28Arg)
c.1325A>G (p.Lys442Arg)
c.1232A>G (p.Lys411Arg)
c.1184A>G (p.Lys395Arg)
1g.197055741T>GCA344000982F13Bc.1328A>C (p.Lys443Thr)
c.83A>C (p.Lys28Thr)
c.1325A>C (p.Lys442Thr)
c.1232A>C (p.Lys411Thr)
c.1184A>C (p.Lys395Thr)
1g.197055741T=CA1217911210F13Bc.1328A= (p.Lys443=)
c.83A= (p.Lys28=)
c.1325A= (p.Lys442=)
c.1232A= (p.Lys411=)
c.1184A= (p.Lys395=)
1g.197055742T>ACA344000985F13Bc.1327A>T (p.Lys443Ter)
c.82A>T (p.Lys28Ter)
c.1324A>T (p.Lys442Ter)
c.1231A>T (p.Lys411Ter)
c.1183A>T (p.Lys395Ter)
1g.197055742T>CCA344000986F13Bc.1327A>G (p.Lys443Glu)
c.82A>G (p.Lys28Glu)
c.1324A>G (p.Lys442Glu)
c.1231A>G (p.Lys411Glu)
c.1183A>G (p.Lys395Glu)
1g.197055742T>GCA344000988F13Bc.1327A>C (p.Lys443Gln)
c.82A>C (p.Lys28Gln)
c.1324A>C (p.Lys442Gln)
c.1231A>C (p.Lys411Gln)
c.1183A>C (p.Lys395Gln)
1g.197055743T>ACA422667780F13Bc.1326A>T (p.Gly442=)
c.81A>T (p.Gly27=)
c.1323A>T (p.Gly441=)
c.1230A>T (p.Gly410=)
c.1182A>T (p.Gly394=)
1g.197055743T>CCA422667782F13Bc.1326A>G (p.Gly442=)
c.81A>G (p.Gly27=)
c.1323A>G (p.Gly441=)
c.1230A>G (p.Gly410=)
c.1182A>G (p.Gly394=)
1g.197055743T>GCA422667783F13Bc.1326A>C (p.Gly442=)
c.81A>C (p.Gly27=)
c.1323A>C (p.Gly441=)
c.1230A>C (p.Gly410=)
c.1182A>C (p.Gly394=)
1g.197055744C>ACA344000995F13Bc.1325G>T (p.Gly442Val)
c.80G>T (p.Gly27Val)
c.1322G>T (p.Gly441Val)
c.1229G>T (p.Gly410Val)
c.1181G>T (p.Gly394Val)
1g.197055744C=CA1217911211F13Bc.1325G= (p.Gly442=)
c.80G= (p.Gly27=)
c.1322G= (p.Gly441=)
c.1229G= (p.Gly410=)
c.1181G= (p.Gly394=)
1g.197055744C>GCA344000990F13Bc.1325G>C (p.Gly442Ala)
c.80G>C (p.Gly27Ala)
c.1322G>C (p.Gly441Ala)
c.1229G>C (p.Gly410Ala)
c.1181G>C (p.Gly394Ala)
1g.197055744C>TCA1308352F13Bc.1325G>A (p.Gly442Glu)
c.80G>A (p.Gly27Glu)
c.1322G>A (p.Gly441Glu)
c.1229G>A (p.Gly410Glu)
c.1181G>A (p.Gly394Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055745C>ACA344000997F13Bc.1324G>T (p.Gly442Ter)
c.79G>T (p.Gly27Ter)
c.1321G>T (p.Gly441Ter)
c.1228G>T (p.Gly410Ter)
c.1180G>T (p.Gly394Ter)
1g.197055745C>GCA344000998F13Bc.1324G>C (p.Gly442Arg)
c.79G>C (p.Gly27Arg)
c.1321G>C (p.Gly441Arg)
c.1228G>C (p.Gly410Arg)
c.1180G>C (p.Gly394Arg)
1g.197055745C>TCA344001000F13Bc.1324G>A (p.Gly442Arg)
c.79G>A (p.Gly27Arg)
c.1321G>A (p.Gly441Arg)
c.1228G>A (p.Gly410Arg)
c.1180G>A (p.Gly394Arg)
1g.197055745_197055746delinsCTCA1217911212F13Bc.1323_1324delinsAG (p.Gln441=)
c.78_79delinsAG (p.Gln26=)
c.1320_1321delinsAG (p.Gln440=)
c.1227_1228delinsAG (p.Gln409=)
c.1179_1180delinsAG (p.Gln393=)
1g.197055746T>ACA344001003F13Bc.1323A>T (p.Gln441His)
c.78A>T (p.Gln26His)
c.1320A>T (p.Gln440His)
c.1227A>T (p.Gln409His)
c.1179A>T (p.Gln393His)
1g.197055746T>CCA1308354F13Bc.1323A>G (p.Gln441=)
c.78A>G (p.Gln26=)
c.1320A>G (p.Gln440=)
c.1227A>G (p.Gln409=)
c.1179A>G (p.Gln393=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055746T>GCA344001006F13Bc.1323A>C (p.Gln441His)
c.78A>C (p.Gln26His)
c.1320A>C (p.Gln440His)
c.1227A>C (p.Gln409His)
c.1179A>C (p.Gln393His)
1g.197055746T=CA1217911213F13Bc.1323A= (p.Gln441=)
c.78A= (p.Gln26=)
c.1320A= (p.Gln440=)
c.1227A= (p.Gln409=)
c.1179A= (p.Gln393=)
1g.197055747delCA1308353F13Bc.1323del (p.Gly442GlufsTer20)
c.78del (p.Gly27GlufsTer20)
c.1320del (p.Gly441GlufsTer20)
c.1227del (p.Gly410GlufsTer20)
c.1179del (p.Gly394GlufsTer20)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055747T>ACA344001010F13Bc.1322A>T (p.Gln441Leu)
c.77A>T (p.Gln26Leu)
c.1319A>T (p.Gln440Leu)
c.1226A>T (p.Gln409Leu)
c.1178A>T (p.Gln393Leu)
1g.197055747T>CCA1308355F13Bc.1322A>G (p.Gln441Arg)
c.77A>G (p.Gln26Arg)
c.1319A>G (p.Gln440Arg)
c.1226A>G (p.Gln409Arg)
c.1178A>G (p.Gln393Arg)
 dbSNP ExAC
1g.197055747T>GCA344001013F13Bc.1322A>C (p.Gln441Pro)
c.77A>C (p.Gln26Pro)
c.1319A>C (p.Gln440Pro)
c.1226A>C (p.Gln409Pro)
c.1178A>C (p.Gln393Pro)
1g.197055747T=CA1217911214F13Bc.1322A= (p.Gln441=)
c.77A= (p.Gln26=)
c.1319A= (p.Gln440=)
c.1226A= (p.Gln409=)
c.1178A= (p.Gln393=)
1g.197055748G>ACA1308356F13Bc.1321C>T (p.Gln441Ter)
c.76C>T (p.Gln26Ter)
c.1318C>T (p.Gln440Ter)
c.1225C>T (p.Gln409Ter)
c.1177C>T (p.Gln393Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055748G>CCA344001015F13Bc.1321C>G (p.Gln441Glu)
c.76C>G (p.Gln26Glu)
c.1318C>G (p.Gln440Glu)
c.1225C>G (p.Gln409Glu)
c.1177C>G (p.Gln393Glu)
1g.197055748G=CA1217911215F13Bc.1321C= (p.Gln441=)
c.76C= (p.Gln26=)
c.1318C= (p.Gln440=)
c.1225C= (p.Gln409=)
c.1177C= (p.Gln393=)
1g.197055748G>TCA344001016F13Bc.1321C>A (p.Gln441Lys)
c.76C>A (p.Gln26Lys)
c.1318C>A (p.Gln440Lys)
c.1225C>A (p.Gln409Lys)
c.1177C>A (p.Gln393Lys)
1g.197055749T>ACA344001023F13Bc.1320A>T (p.Glu440Asp)
c.75A>T (p.Glu25Asp)
c.1317A>T (p.Glu439Asp)
c.1224A>T (p.Glu408Asp)
c.1176A>T (p.Glu392Asp)
1g.197055749T>CCA1308357F13Bc.1320A>G (p.Glu440=)
c.75A>G (p.Glu25=)
c.1317A>G (p.Glu439=)
c.1224A>G (p.Glu408=)
c.1176A>G (p.Glu392=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197055749T>GCA344001019F13Bc.1320A>C (p.Glu440Asp)
c.75A>C (p.Glu25Asp)
c.1317A>C (p.Glu439Asp)
c.1224A>C (p.Glu408Asp)
c.1176A>C (p.Glu392Asp)
1g.197055749T=CA1142174717F13Bc.1320A= (p.Glu440=)
c.75A= (p.Glu25=)
c.1317A= (p.Glu439=)
c.1224A= (p.Glu408=)
c.1176A= (p.Glu392=)
1g.197055750T>ACA344001028F13Bc.1319A>T (p.Glu440Val)
c.74A>T (p.Glu25Val)
c.1316A>T (p.Glu439Val)
c.1223A>T (p.Glu408Val)
c.1175A>T (p.Glu392Val)
1g.197055750T>CCA344001026F13Bc.1319A>G (p.Glu440Gly)
c.74A>G (p.Glu25Gly)
c.1316A>G (p.Glu439Gly)
c.1223A>G (p.Glu408Gly)
c.1175A>G (p.Glu392Gly)
1g.197055750T>GCA344001027F13Bc.1319A>C (p.Glu440Ala)
c.74A>C (p.Glu25Ala)
c.1316A>C (p.Glu439Ala)
c.1223A>C (p.Glu408Ala)
c.1175A>C (p.Glu392Ala)
1g.197055751C>ACA344001029F13Bc.1318G>T (p.Glu440Ter)
c.73G>T (p.Glu25Ter)
c.1315G>T (p.Glu439Ter)
c.1222G>T (p.Glu408Ter)
c.1174G>T (p.Glu392Ter)
1g.197055751C=CA1217911216F13Bc.1318G= (p.Glu440=)
c.73G= (p.Glu25=)
c.1315G= (p.Glu439=)
c.1222G= (p.Glu408=)
c.1174G= (p.Glu392=)
1g.197055751C>GCA344001040F13Bc.1318G>C (p.Glu440Gln)
c.73G>C (p.Glu25Gln)
c.1315G>C (p.Glu439Gln)
c.1222G>C (p.Glu408Gln)
c.1174G>C (p.Glu392Gln)
 dbSNP
1g.197055751C>TCA1308358F13Bc.1318G>A (p.Glu440Lys)
c.73G>A (p.Glu25Lys)
c.1315G>A (p.Glu439Lys)
c.1222G>A (p.Glu408Lys)
c.1174G>A (p.Glu392Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.197055752G>ACA1308359F13Bc.1317C>T (p.Cys439=)
c.72C>T (p.Cys24=)
c.1314C>T (p.Cys438=)
c.1221C>T (p.Cys407=)
c.1173C>T (p.Cys391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197055752G>CCA1308360F13Bc.1317C>G (p.Cys439Trp)
c.72C>G (p.Cys24Trp)
c.1314C>G (p.Cys438Trp)
c.1221C>G (p.Cys407Trp)
c.1173C>G (p.Cys391Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055752G=CA1142305140F13Bc.1317C= (p.Cys439=)
c.72C= (p.Cys24=)
c.1314C= (p.Cys438=)
c.1221C= (p.Cys407=)
c.1173C= (p.Cys391=)
1g.197055752G>TCA344001047F13Bc.1317C>A (p.Cys439Ter)
c.72C>A (p.Cys24Ter)
c.1314C>A (p.Cys438Ter)
c.1221C>A (p.Cys407Ter)
c.1173C>A (p.Cys391Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.197055753C>ACA344001052F13Bc.1316G>T (p.Cys439Phe)
c.71G>T (p.Cys24Phe)
c.1313G>T (p.Cys438Phe)
c.1220G>T (p.Cys407Phe)
c.1172G>T (p.Cys391Phe)
1g.197055753C>GCA344001054F13Bc.1316G>C (p.Cys439Ser)
c.71G>C (p.Cys24Ser)
c.1313G>C (p.Cys438Ser)
c.1220G>C (p.Cys407Ser)
c.1172G>C (p.Cys391Ser)
1g.197055753C>TCA344001055F13Bc.1316G>A (p.Cys439Tyr)
c.71G>A (p.Cys24Tyr)
c.1313G>A (p.Cys438Tyr)
c.1220G>A (p.Cys407Tyr)
c.1172G>A (p.Cys391Tyr)
 gnomAD v4
1g.197055754A>CCA344001056F13Bc.1315T>G (p.Cys439Gly)
c.70T>G (p.Cys24Gly)
c.1312T>G (p.Cys438Gly)
c.1219T>G (p.Cys407Gly)
c.1171T>G (p.Cys391Gly)
1g.197055754A>GCA344001057F13Bc.1315T>C (p.Cys439Arg)
c.70T>C (p.Cys24Arg)
c.1312T>C (p.Cys438Arg)
c.1219T>C (p.Cys407Arg)
c.1171T>C (p.Cys391Arg)
1g.197055754A>TCA344001058F13Bc.1315T>A (p.Cys439Ser)
c.70T>A (p.Cys24Ser)
c.1312T>A (p.Cys438Ser)
c.1219T>A (p.Cys407Ser)
c.1171T>A (p.Cys391Ser)
1g.197055755A>CCA422667786F13Bc.1314T>G (p.Arg438=)
c.69T>G (p.Arg23=)
c.1311T>G (p.Arg437=)
c.1218T>G (p.Arg406=)
c.1170T>G (p.Arg390=)
1g.197055755A>GCA422667788F13Bc.1314T>C (p.Arg438=)
c.69T>C (p.Arg23=)
c.1311T>C (p.Arg437=)
c.1218T>C (p.Arg406=)
c.1170T>C (p.Arg390=)
1g.197055755A>TCA422667787F13Bc.1314T>A (p.Arg438=)
c.69T>A (p.Arg23=)
c.1311T>A (p.Arg437=)
c.1218T>A (p.Arg406=)
c.1170T>A (p.Arg390=)
1g.197055756C>ACA344001060F13Bc.1313G>T (p.Arg438Leu)
c.68G>T (p.Arg23Leu)
c.1310G>T (p.Arg437Leu)
c.1217G>T (p.Arg406Leu)
c.1169G>T (p.Arg390Leu)
 gnomAD v4
1g.197055756C=CA1143275632F13Bc.1313G= (p.Arg438=)
c.68G= (p.Arg23=)
c.1310G= (p.Arg437=)
c.1217G= (p.Arg406=)
c.1169G= (p.Arg390=)
1g.197055756C>GCA344001066F13Bc.1313G>C (p.Arg438Pro)
c.68G>C (p.Arg23Pro)
c.1310G>C (p.Arg437Pro)
c.1217G>C (p.Arg406Pro)
c.1169G>C (p.Arg390Pro)
1g.197055756C>TCA1308361F13Bc.1313G>A (p.Arg438His)
c.68G>A (p.Arg23His)
c.1310G>A (p.Arg437His)
c.1217G>A (p.Arg406His)
c.1169G>A (p.Arg390His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197055757G>ACA344001068F13Bc.1312C>T (p.Arg438Cys)
c.67C>T (p.Arg23Cys)
c.1309C>T (p.Arg437Cys)
c.1216C>T (p.Arg406Cys)
c.1168C>T (p.Arg390Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197055757G>CCA344001076F13Bc.1312C>G (p.Arg438Gly)
c.67C>G (p.Arg23Gly)
c.1309C>G (p.Arg437Gly)
c.1216C>G (p.Arg406Gly)
c.1168C>G (p.Arg390Gly)
1g.197055757G=CA1148876340F13Bc.1312C= (p.Arg438=)
c.67C= (p.Arg23=)
c.1309C= (p.Arg437=)
c.1216C= (p.Arg406=)
c.1168C= (p.Arg390=)
1g.197055757G>TCA1308362F13Bc.1312C>A (p.Arg438Ser)
c.67C>A (p.Arg23Ser)
c.1309C>A (p.Arg437Ser)
c.1216C>A (p.Arg406Ser)
c.1168C>A (p.Arg390Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055758A=CA1217911217F13Bc.1311T= (p.Ser437=)
c.66T= (p.Ser22=)
c.1308T= (p.Ser436=)
c.1215T= (p.Ser405=)
c.1167T= (p.Ser389=)
1g.197055758A>CCA1308363F13Bc.1311T>G (p.Ser437=)
c.66T>G (p.Ser22=)
c.1308T>G (p.Ser436=)
c.1215T>G (p.Ser405=)
c.1167T>G (p.Ser389=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055758A>GCA422667789F13Bc.1311T>C (p.Ser437=)
c.66T>C (p.Ser22=)
c.1308T>C (p.Ser436=)
c.1215T>C (p.Ser405=)
c.1167T>C (p.Ser389=)
1g.197055758A>TCA422667790F13Bc.1311T>A (p.Ser437=)
c.66T>A (p.Ser22=)
c.1308T>A (p.Ser436=)
c.1215T>A (p.Ser405=)
c.1167T>A (p.Ser389=)
1g.197055759G>ACA1308364F13Bc.1310C>T (p.Ser437Phe)
c.65C>T (p.Ser22Phe)
c.1307C>T (p.Ser436Phe)
c.1214C>T (p.Ser405Phe)
c.1166C>T (p.Ser389Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055759G>CCA344001085F13Bc.1310C>G (p.Ser437Cys)
c.65C>G (p.Ser22Cys)
c.1307C>G (p.Ser436Cys)
c.1214C>G (p.Ser405Cys)
c.1166C>G (p.Ser389Cys)
1g.197055759G=CA1217911218F13Bc.1310C= (p.Ser437=)
c.65C= (p.Ser22=)
c.1307C= (p.Ser436=)
c.1214C= (p.Ser405=)
c.1166C= (p.Ser389=)
1g.197055759G>TCA344001087F13Bc.1310C>A (p.Ser437Tyr)
c.65C>A (p.Ser22Tyr)
c.1307C>A (p.Ser436Tyr)
c.1214C>A (p.Ser405Tyr)
c.1166C>A (p.Ser389Tyr)
1g.197055760A>CCA344001090F13Bc.1309T>G (p.Ser437Ala)
c.64T>G (p.Ser22Ala)
c.1306T>G (p.Ser436Ala)
c.1213T>G (p.Ser405Ala)
c.1165T>G (p.Ser389Ala)
 gnomAD v4
1g.197055760A>GCA344001092F13Bc.1309T>C (p.Ser437Pro)
c.64T>C (p.Ser22Pro)
c.1306T>C (p.Ser436Pro)
c.1213T>C (p.Ser405Pro)
c.1165T>C (p.Ser389Pro)
1g.197055760A>TCA344001094F13Bc.1309T>A (p.Ser437Thr)
c.64T>A (p.Ser22Thr)
c.1306T>A (p.Ser436Thr)
c.1213T>A (p.Ser405Thr)
c.1165T>A (p.Ser389Thr)
1g.197055761T>ACA422667792F13Bc.1308A>T (p.Ile436=)
c.63A>T (p.Ile21=)
c.1305A>T (p.Ile435=)
c.1212A>T (p.Ile404=)
c.1164A>T (p.Ile388=)
1g.197055761T>CCA344001097F13Bc.1308A>G (p.Ile436Met)
c.63A>G (p.Ile21Met)
c.1305A>G (p.Ile435Met)
c.1212A>G (p.Ile404Met)
c.1164A>G (p.Ile388Met)
1g.197055761T>GCA422667793F13Bc.1308A>C (p.Ile436=)
c.63A>C (p.Ile21=)
c.1305A>C (p.Ile435=)
c.1212A>C (p.Ile404=)
c.1164A>C (p.Ile388=)
1g.197055761dupCA2649658729F13Bc.1308dup (p.Ser437IlefsTer21)
c.63dup (p.Ser22IlefsTer21)
c.1305dup (p.Ser436IlefsTer21)
c.1212dup (p.Ser405IlefsTer21)
c.1164dup (p.Ser389IlefsTer21)
 gnomAD v4
1g.197055762A>CCA344001101F13Bc.1307T>G (p.Ile436Arg)
c.62T>G (p.Ile21Arg)
c.1304T>G (p.Ile435Arg)
c.1211T>G (p.Ile404Arg)
c.1163T>G (p.Ile388Arg)
1g.197055762A>GCA344001100F13Bc.1307T>C (p.Ile436Thr)
c.62T>C (p.Ile21Thr)
c.1304T>C (p.Ile435Thr)
c.1211T>C (p.Ile404Thr)
c.1163T>C (p.Ile388Thr)
1g.197055762A>TCA344001099F13Bc.1307T>A (p.Ile436Lys)
c.62T>A (p.Ile21Lys)
c.1304T>A (p.Ile435Lys)
c.1211T>A (p.Ile404Lys)
c.1163T>A (p.Ile388Lys)
 gnomAD v4
1g.197055762_197055763delinsATCA1217911219F13Bc.1306_1307delinsAT (p.Ile436=)
c.61_62delinsAT (p.Ile21=)
c.1303_1304delinsAT (p.Ile435=)
c.1210_1211delinsAT (p.Ile404=)
c.1162_1163delinsAT (p.Ile388=)
1g.197055763T>ACA344001102F13Bc.1306A>T (p.Ile436Leu)
c.61A>T (p.Ile21Leu)
c.1303A>T (p.Ile435Leu)
c.1210A>T (p.Ile404Leu)
c.1162A>T (p.Ile388Leu)
1g.197055763T>CCA344001103F13Bc.1306A>G (p.Ile436Val)
c.61A>G (p.Ile21Val)
c.1303A>G (p.Ile435Val)
c.1210A>G (p.Ile404Val)
c.1162A>G (p.Ile388Val)
1g.197055763T>GCA344001104F13Bc.1306A>C (p.Ile436Leu)
c.61A>C (p.Ile21Leu)
c.1303A>C (p.Ile435Leu)
c.1210A>C (p.Ile404Leu)
c.1162A>C (p.Ile388Leu)
1g.197055767delCA1308365F13Bc.1306del (p.Ile436TyrfsTer26)
c.61del (p.Ile21TyrfsTer26)
c.1303del (p.Ile435TyrfsTer26)
c.1210del (p.Ile404TyrfsTer26)
c.1162del (p.Ile388TyrfsTer26)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055764T>ACA344001107F13Bc.1305A>T (p.Lys435Asn)
c.60A>T (p.Lys20Asn)
c.1302A>T (p.Lys434Asn)
c.1209A>T (p.Lys403Asn)
c.1161A>T (p.Lys387Asn)
1g.197055764T>CCA422667794F13Bc.1305A>G (p.Lys435=)
c.60A>G (p.Lys20=)
c.1302A>G (p.Lys434=)
c.1209A>G (p.Lys403=)
c.1161A>G (p.Lys387=)
 gnomAD v4
1g.197055764T>GCA344001109F13Bc.1305A>C (p.Lys435Asn)
c.60A>C (p.Lys20Asn)
c.1302A>C (p.Lys434Asn)
c.1209A>C (p.Lys403Asn)
c.1161A>C (p.Lys387Asn)
1g.197055765T>ACA344001113F13Bc.1304A>T (p.Lys435Ile)
c.59A>T (p.Lys20Ile)
c.1301A>T (p.Lys434Ile)
c.1208A>T (p.Lys403Ile)
c.1160A>T (p.Lys387Ile)
1g.197055765T>CCA344001114F13Bc.1304A>G (p.Lys435Arg)
c.59A>G (p.Lys20Arg)
c.1301A>G (p.Lys434Arg)
c.1208A>G (p.Lys403Arg)
c.1160A>G (p.Lys387Arg)
1g.197055765T>GCA344001116F13Bc.1304A>C (p.Lys435Thr)
c.59A>C (p.Lys20Thr)
c.1301A>C (p.Lys434Thr)
c.1208A>C (p.Lys403Thr)
c.1160A>C (p.Lys387Thr)
1g.197055766T>ACA344001119F13Bc.1303A>T (p.Lys435Ter)
c.58A>T (p.Lys20Ter)
c.1300A>T (p.Lys434Ter)
c.1207A>T (p.Lys403Ter)
c.1159A>T (p.Lys387Ter)
1g.197055766T>CCA1308366F13Bc.1303A>G (p.Lys435Glu)
c.58A>G (p.Lys20Glu)
c.1300A>G (p.Lys434Glu)
c.1207A>G (p.Lys403Glu)
c.1159A>G (p.Lys387Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055766T>GCA344001120F13Bc.1303A>C (p.Lys435Gln)
c.58A>C (p.Lys20Gln)
c.1300A>C (p.Lys434Gln)
c.1207A>C (p.Lys403Gln)
c.1159A>C (p.Lys387Gln)
1g.197055766T=CA1148265652F13Bc.1303A= (p.Lys435=)
c.58A= (p.Lys20=)
c.1300A= (p.Lys434=)
c.1207A= (p.Lys403=)
c.1159A= (p.Lys387=)
1g.197055767T>ACA422667795F13Bc.1302A>T (p.Ser434=)
c.57A>T (p.Ser19=)
c.1299A>T (p.Ser433=)
c.1206A>T (p.Ser402=)
c.1158A>T (p.Ser386=)
1g.197055767T>CCA422667796F13Bc.1302A>G (p.Ser434=)
c.57A>G (p.Ser19=)
c.1299A>G (p.Ser433=)
c.1206A>G (p.Ser402=)
c.1158A>G (p.Ser386=)
1g.197055767T>GCA422667797F13Bc.1302A>C (p.Ser434=)
c.57A>C (p.Ser19=)
c.1299A>C (p.Ser433=)
c.1206A>C (p.Ser402=)
c.1158A>C (p.Ser386=)
1g.197055768G>ACA344001122F13Bc.1301C>T (p.Ser434Leu)
c.56C>T (p.Ser19Leu)
c.1298C>T (p.Ser433Leu)
c.1205C>T (p.Ser402Leu)
c.1157C>T (p.Ser386Leu)
1g.197055768G>CCA344001124F13Bc.1301C>G (p.Ser434Ter)
c.56C>G (p.Ser19Ter)
c.1298C>G (p.Ser433Ter)
c.1205C>G (p.Ser402Ter)
c.1157C>G (p.Ser386Ter)
1g.197055768G=CA1217911220F13Bc.1301C= (p.Ser434=)
c.56C= (p.Ser19=)
c.1298C= (p.Ser433=)
c.1205C= (p.Ser402=)
c.1157C= (p.Ser386=)
1g.197055768G>TCA35873317F13Bc.1301C>A (p.Ser434Ter)
c.56C>A (p.Ser19Ter)
c.1298C>A (p.Ser433Ter)
c.1205C>A (p.Ser402Ter)
c.1157C>A (p.Ser386Ter)
 dbSNP
1g.197055769A>CCA344001137F13Bc.1300T>G (p.Ser434Ala)
c.55T>G (p.Ser19Ala)
c.1297T>G (p.Ser433Ala)
c.1204T>G (p.Ser402Ala)
c.1156T>G (p.Ser386Ala)
1g.197055769A>GCA344001139F13Bc.1300T>C (p.Ser434Pro)
c.55T>C (p.Ser19Pro)
c.1297T>C (p.Ser433Pro)
c.1204T>C (p.Ser402Pro)
c.1156T>C (p.Ser386Pro)
1g.197055769A>TCA344001141F13Bc.1300T>A (p.Ser434Thr)
c.55T>A (p.Ser19Thr)
c.1297T>A (p.Ser433Thr)
c.1204T>A (p.Ser402Thr)
c.1156T>A (p.Ser386Thr)
1g.197055770T>ACA422667798F13Bc.1299A>T (p.Gly433=)
c.54A>T (p.Gly18=)
c.1296A>T (p.Gly432=)
c.1203A>T (p.Gly401=)
c.1155A>T (p.Gly385=)
1g.197055770T>CCA422667799F13Bc.1299A>G (p.Gly433=)
c.54A>G (p.Gly18=)
c.1296A>G (p.Gly432=)
c.1203A>G (p.Gly401=)
c.1155A>G (p.Gly385=)
1g.197055770T>GCA422667800F13Bc.1299A>C (p.Gly433=)
c.54A>C (p.Gly18=)
c.1296A>C (p.Gly432=)
c.1203A>C (p.Gly401=)
c.1155A>C (p.Gly385=)
1g.197055771C>ACA344001142F13Bc.1298G>T (p.Gly433Val)
c.53G>T (p.Gly18Val)
c.1295G>T (p.Gly432Val)
c.1202G>T (p.Gly401Val)
c.1154G>T (p.Gly385Val)
 dbSNP gnomAD v2 gnomAD v4
1g.197055771C=CA1143467551F13Bc.1298G= (p.Gly433=)
c.53G= (p.Gly18=)
c.1295G= (p.Gly432=)
c.1202G= (p.Gly401=)
c.1154G= (p.Gly385=)
1g.197055771C>GCA344001143F13Bc.1298G>C (p.Gly433Ala)
c.53G>C (p.Gly18Ala)
c.1295G>C (p.Gly432Ala)
c.1202G>C (p.Gly401Ala)
c.1154G>C (p.Gly385Ala)
1g.197055771C>TCA1308367F13Bc.1298G>A (p.Gly433Glu)
c.53G>A (p.Gly18Glu)
c.1295G>A (p.Gly432Glu)
c.1202G>A (p.Gly401Glu)
c.1154G>A (p.Gly385Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197055772C>ACA344001144F13Bc.1297G>T (p.Gly433Ter)
c.52G>T (p.Gly18Ter)
c.1294G>T (p.Gly432Ter)
c.1201G>T (p.Gly401Ter)
c.1153G>T (p.Gly385Ter)
 gnomAD v4
1g.197055772C>GCA344001147F13Bc.1297G>C (p.Gly433Arg)
c.52G>C (p.Gly18Arg)
c.1294G>C (p.Gly432Arg)
c.1201G>C (p.Gly401Arg)
c.1153G>C (p.Gly385Arg)
 COSMIC
1g.197055772C>TCA344001146F13Bc.1297G>A (p.Gly433Arg)
c.52G>A (p.Gly18Arg)
c.1294G>A (p.Gly432Arg)
c.1201G>A (p.Gly401Arg)
c.1153G>A (p.Gly385Arg)
 gnomAD v4
1g.197055773C>ACA344001149F13Bc.1296G>T (p.Arg432Ser)
c.51G>T (p.Arg17Ser)
c.1293G>T (p.Arg431Ser)
c.1200G>T (p.Arg400Ser)
c.1152G>T (p.Arg384Ser)
 gnomAD v4
1g.197055773C>GCA344001150F13Bc.1296G>C (p.Arg432Ser)
c.51G>C (p.Arg17Ser)
c.1293G>C (p.Arg431Ser)
c.1200G>C (p.Arg400Ser)
c.1152G>C (p.Arg384Ser)
1g.197055773C>TCA422667801F13Bc.1296G>A (p.Arg432=)
c.51G>A (p.Arg17=)
c.1293G>A (p.Arg431=)
c.1200G>A (p.Arg400=)
c.1152G>A (p.Arg384=)
1g.197055774C>ACA344001152F13Bc.1295G>T (p.Arg432Met)
c.50G>T (p.Arg17Met)
c.1292G>T (p.Arg431Met)
c.1199G>T (p.Arg400Met)
c.1151G>T (p.Arg384Met)
1g.197055774C=CA1217911221F13Bc.1295G= (p.Arg432=)
c.50G= (p.Arg17=)
c.1292G= (p.Arg431=)
c.1199G= (p.Arg400=)
c.1151G= (p.Arg384=)
1g.197055774C>GCA1308368F13Bc.1295G>C (p.Arg432Thr)
c.50G>C (p.Arg17Thr)
c.1292G>C (p.Arg431Thr)
c.1199G>C (p.Arg400Thr)
c.1151G>C (p.Arg384Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055774C>TCA344001153F13Bc.1295G>A (p.Arg432Lys)
c.50G>A (p.Arg17Lys)
c.1292G>A (p.Arg431Lys)
c.1199G>A (p.Arg400Lys)
c.1151G>A (p.Arg384Lys)
 gnomAD v4
1g.197055775T>ACA344001155F13Bc.1294A>T (p.Arg432Trp)
c.49A>T (p.Arg17Trp)
c.1291A>T (p.Arg431Trp)
c.1198A>T (p.Arg400Trp)
c.1150A>T (p.Arg384Trp)
1g.197055775T>CCA344001156F13Bc.1294A>G (p.Arg432Gly)
c.49A>G (p.Arg17Gly)
c.1291A>G (p.Arg431Gly)
c.1198A>G (p.Arg400Gly)
c.1150A>G (p.Arg384Gly)
 gnomAD v4
1g.197055775T>GCA422667803F13Bc.1294A>C (p.Arg432=)
c.49A>C (p.Arg17=)
c.1291A>C (p.Arg431=)
c.1198A>C (p.Arg400=)
c.1150A>C (p.Arg384=)
1g.197055776C>ACA422667804F13Bc.1293G>T (p.Leu431=)
c.48G>T (p.Leu16=)
c.1290G>T (p.Leu430=)
c.1197G>T (p.Leu399=)
c.1149G>T (p.Leu383=)
1g.197055776C>GCA422667805F13Bc.1293G>C (p.Leu431=)
c.48G>C (p.Leu16=)
c.1290G>C (p.Leu430=)
c.1197G>C (p.Leu399=)
c.1149G>C (p.Leu383=)
1g.197055776C>TCA422667806F13Bc.1293G>A (p.Leu431=)
c.48G>A (p.Leu16=)
c.1290G>A (p.Leu430=)
c.1197G>A (p.Leu399=)
c.1149G>A (p.Leu383=)
1g.197055776_197055780delinsCAGTACA1217911222F13Bc.1289_1293delinsTACTG (p.Leu430=)
c.44_48delinsTACTG (p.Leu15=)
c.1286_1290delinsTACTG (p.Leu429=)
c.1193_1197delinsTACTG (p.Leu398=)
c.1145_1149delinsTACTG (p.Leu382=)
1g.197055777A>CCA344001159F13Bc.1292T>G (p.Leu431Arg)
c.47T>G (p.Leu16Arg)
c.1289T>G (p.Leu430Arg)
c.1196T>G (p.Leu399Arg)
c.1148T>G (p.Leu383Arg)
1g.197055777A>GCA344001160F13Bc.1292T>C (p.Leu431Pro)
c.47T>C (p.Leu16Pro)
c.1289T>C (p.Leu430Pro)
c.1196T>C (p.Leu399Pro)
c.1148T>C (p.Leu383Pro)
1g.197055777A>TCA344001163F13Bc.1292T>A (p.Leu431Gln)
c.47T>A (p.Leu16Gln)
c.1289T>A (p.Leu430Gln)
c.1196T>A (p.Leu399Gln)
c.1148T>A (p.Leu383Gln)
1g.197055782_197055785delCA1308369F13Bc.1289_1292del (p.Leu430Ter)
c.44_47del (p.Leu15Ter)
c.1286_1289del (p.Leu429Ter)
c.1193_1196del (p.Leu398Ter)
c.1145_1148del (p.Leu382Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055778G>ACA422667807F13Bc.1291C>T (p.Leu431=)
c.46C>T (p.Leu16=)
c.1288C>T (p.Leu430=)
c.1195C>T (p.Leu399=)
c.1147C>T (p.Leu383=)
1g.197055778G>CCA344001167F13Bc.1291C>G (p.Leu431Val)
c.46C>G (p.Leu16Val)
c.1288C>G (p.Leu430Val)
c.1195C>G (p.Leu399Val)
c.1147C>G (p.Leu383Val)
1g.197055778G=CA1217911223F13Bc.1291C= (p.Leu431=)
c.46C= (p.Leu16=)
c.1288C= (p.Leu430=)
c.1195C= (p.Leu399=)
c.1147C= (p.Leu383=)
1g.197055778G>TCA344001165F13Bc.1291C>A (p.Leu431Met)
c.46C>A (p.Leu16Met)
c.1288C>A (p.Leu430Met)
c.1195C>A (p.Leu399Met)
c.1147C>A (p.Leu383Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197055779T>ACA344001170F13Bc.1290A>T (p.Leu430Phe)
c.45A>T (p.Leu15Phe)
c.1287A>T (p.Leu429Phe)
c.1194A>T (p.Leu398Phe)
c.1146A>T (p.Leu382Phe)
1g.197055779T>CCA422667809F13Bc.1290A>G (p.Leu430=)
c.45A>G (p.Leu15=)
c.1287A>G (p.Leu429=)
c.1194A>G (p.Leu398=)
c.1146A>G (p.Leu382=)
 dbSNP gnomAD v4
1g.197055779T>GCA344001168F13Bc.1290A>C (p.Leu430Phe)
c.45A>C (p.Leu15Phe)
c.1287A>C (p.Leu429Phe)
c.1194A>C (p.Leu398Phe)
c.1146A>C (p.Leu382Phe)
1g.197055779T=CA1217911224F13Bc.1290A= (p.Leu430=)
c.45A= (p.Leu15=)
c.1287A= (p.Leu429=)
c.1194A= (p.Leu398=)
c.1146A= (p.Leu382=)
1g.197055780A>CCA344001173F13Bc.1289T>G (p.Leu430Ter)
c.44T>G (p.Leu15Ter)
c.1286T>G (p.Leu429Ter)
c.1193T>G (p.Leu398Ter)
c.1145T>G (p.Leu382Ter)
1g.197055780A>GCA344001175F13Bc.1289T>C (p.Leu430Ser)
c.44T>C (p.Leu15Ser)
c.1286T>C (p.Leu429Ser)
c.1193T>C (p.Leu398Ser)
c.1145T>C (p.Leu382Ser)
1g.197055780A>TCA344001176F13Bc.1289T>A (p.Leu430Ter)
c.44T>A (p.Leu15Ter)
c.1286T>A (p.Leu429Ter)
c.1193T>A (p.Leu398Ter)
c.1145T>A (p.Leu382Ter)
1g.197055781A>CCA344001178F13Bc.1288T>G (p.Leu430Val)
c.43T>G (p.Leu15Val)
c.1285T>G (p.Leu429Val)
c.1192T>G (p.Leu398Val)
c.1144T>G (p.Leu382Val)
1g.197055781A>GCA422667812F13Bc.1288T>C (p.Leu430=)
c.43T>C (p.Leu15=)
c.1285T>C (p.Leu429=)
c.1192T>C (p.Leu398=)
c.1144T>C (p.Leu382=)
1g.197055781A>TCA344001180F13Bc.1288T>A (p.Leu430Ile)
c.43T>A (p.Leu15Ile)
c.1285T>A (p.Leu429Ile)
c.1192T>A (p.Leu398Ile)
c.1144T>A (p.Leu382Ile)
1g.197055782G>ACA1308370F13Bc.1287C>T (p.Tyr429=)
c.42C>T (p.Tyr14=)
c.1284C>T (p.Tyr428=)
c.1191C>T (p.Tyr397=)
c.1143C>T (p.Tyr381=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055782G>CCA344001184F13Bc.1287C>G (p.Tyr429Ter)
c.42C>G (p.Tyr14Ter)
c.1284C>G (p.Tyr428Ter)
c.1191C>G (p.Tyr397Ter)
c.1143C>G (p.Tyr381Ter)
1g.197055782G=CA1149043491F13Bc.1287C= (p.Tyr429=)
c.42C= (p.Tyr14=)
c.1284C= (p.Tyr428=)
c.1191C= (p.Tyr397=)
c.1143C= (p.Tyr381=)
1g.197055782G>TCA344001186F13Bc.1287C>A (p.Tyr429Ter)
c.42C>A (p.Tyr14Ter)
c.1284C>A (p.Tyr428Ter)
c.1191C>A (p.Tyr397Ter)
c.1143C>A (p.Tyr381Ter)
 COSMIC
1g.197055783T>ACA344001188F13Bc.1286A>T (p.Tyr429Phe)
c.41A>T (p.Tyr14Phe)
c.1283A>T (p.Tyr428Phe)
c.1190A>T (p.Tyr397Phe)
c.1142A>T (p.Tyr381Phe)
1g.197055783T>CCA344001190F13Bc.1286A>G (p.Tyr429Cys)
c.41A>G (p.Tyr14Cys)
c.1283A>G (p.Tyr428Cys)
c.1190A>G (p.Tyr397Cys)
c.1142A>G (p.Tyr381Cys)
 gnomAD v4
1g.197055783T>GCA344001193F13Bc.1286A>C (p.Tyr429Ser)
c.41A>C (p.Tyr14Ser)
c.1283A>C (p.Tyr428Ser)
c.1190A>C (p.Tyr397Ser)
c.1142A>C (p.Tyr381Ser)
1g.197055784A=CA1143482318F13Bc.1285T= (p.Tyr429=)
c.40T= (p.Tyr14=)
c.1282T= (p.Tyr428=)
c.1189T= (p.Tyr397=)
c.1141T= (p.Tyr381=)
1g.197055784A>CCA344001199F13Bc.1285T>G (p.Tyr429Asp)
c.40T>G (p.Tyr14Asp)
c.1282T>G (p.Tyr428Asp)
c.1189T>G (p.Tyr397Asp)
c.1141T>G (p.Tyr381Asp)
1g.197055784A>GCA1308371F13Bc.1285T>C (p.Tyr429His)
c.40T>C (p.Tyr14His)
c.1282T>C (p.Tyr428His)
c.1189T>C (p.Tyr397His)
c.1141T>C (p.Tyr381His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055784A>TCA344001196F13Bc.1285T>A (p.Tyr429Asn)
c.40T>A (p.Tyr14Asn)
c.1282T>A (p.Tyr428Asn)
c.1189T>A (p.Tyr397Asn)
c.1141T>A (p.Tyr381Asn)
1g.197055785A>CCA344001202F13Bc.1284T>G (p.Tyr428Ter)
c.39T>G (p.Tyr13Ter)
c.1281T>G (p.Tyr427Ter)
c.1188T>G (p.Tyr396Ter)
c.1140T>G (p.Tyr380Ter)
1g.197055785A>GCA422667813F13Bc.1284T>C (p.Tyr428=)
c.39T>C (p.Tyr13=)
c.1281T>C (p.Tyr427=)
c.1188T>C (p.Tyr396=)
c.1140T>C (p.Tyr380=)
 gnomAD v4
1g.197055785A>TCA344001204F13Bc.1284T>A (p.Tyr428Ter)
c.39T>A (p.Tyr13Ter)
c.1281T>A (p.Tyr427Ter)
c.1188T>A (p.Tyr396Ter)
c.1140T>A (p.Tyr380Ter)
1g.197055786T>ACA344001207F13Bc.1283A>T (p.Tyr428Phe)
c.38A>T (p.Tyr13Phe)
c.1280A>T (p.Tyr427Phe)
c.1187A>T (p.Tyr396Phe)
c.1139A>T (p.Tyr380Phe)
 COSMIC
1g.197055786T>CCA344001208F13Bc.1283A>G (p.Tyr428Cys)
c.38A>G (p.Tyr13Cys)
c.1280A>G (p.Tyr427Cys)
c.1187A>G (p.Tyr396Cys)
c.1139A>G (p.Tyr380Cys)
 dbSNP
1g.197055786T>GCA344001210F13Bc.1283A>C (p.Tyr428Ser)
c.38A>C (p.Tyr13Ser)
c.1280A>C (p.Tyr427Ser)
c.1187A>C (p.Tyr396Ser)
c.1139A>C (p.Tyr380Ser)
1g.197055786T=CA1217911225F13Bc.1283A= (p.Tyr428=)
c.38A= (p.Tyr13=)
c.1280A= (p.Tyr427=)
c.1187A= (p.Tyr396=)
c.1139A= (p.Tyr380=)
1g.197055787A>CCA344001213F13Bc.1282T>G (p.Tyr428Asp)
c.37T>G (p.Tyr13Asp)
c.1279T>G (p.Tyr427Asp)
c.1186T>G (p.Tyr396Asp)
c.1138T>G (p.Tyr380Asp)
1g.197055787A>GCA344001215F13Bc.1282T>C (p.Tyr428His)
c.37T>C (p.Tyr13His)
c.1279T>C (p.Tyr427His)
c.1186T>C (p.Tyr396His)
c.1138T>C (p.Tyr380His)
1g.197055787A>TCA344001218F13Bc.1282T>A (p.Tyr428Asn)
c.37T>A (p.Tyr13Asn)
c.1279T>A (p.Tyr427Asn)
c.1186T>A (p.Tyr396Asn)
c.1138T>A (p.Tyr380Asn)
1g.197055788T>ACA344001219F13Bc.1281A>T (p.Glu427Asp)
c.36A>T (p.Glu12Asp)
c.1278A>T (p.Glu426Asp)
c.1185A>T (p.Glu395Asp)
c.1137A>T (p.Glu379Asp)
1g.197055788T>CCA422667814F13Bc.1281A>G (p.Glu427=)
c.36A>G (p.Glu12=)
c.1278A>G (p.Glu426=)
c.1185A>G (p.Glu395=)
c.1137A>G (p.Glu379=)
1g.197055788T>GCA344001221F13Bc.1281A>C (p.Glu427Asp)
c.36A>C (p.Glu12Asp)
c.1278A>C (p.Glu426Asp)
c.1185A>C (p.Glu395Asp)
c.1137A>C (p.Glu379Asp)
1g.197055789T>ACA344001223F13Bc.1280A>T (p.Glu427Val)
c.35A>T (p.Glu12Val)
c.1277A>T (p.Glu426Val)
c.1184A>T (p.Glu395Val)
c.1136A>T (p.Glu379Val)
1g.197055789T>CCA344001226F13Bc.1280A>G (p.Glu427Gly)
c.35A>G (p.Glu12Gly)
c.1277A>G (p.Glu426Gly)
c.1184A>G (p.Glu395Gly)
c.1136A>G (p.Glu379Gly)
1g.197055789T>GCA344001228F13Bc.1280A>C (p.Glu427Ala)
c.35A>C (p.Glu12Ala)
c.1277A>C (p.Glu426Ala)
c.1184A>C (p.Glu395Ala)
c.1136A>C (p.Glu379Ala)
 gnomAD v4
1g.197055790C>ACA344001231F13Bc.1279G>T (p.Glu427Ter)
c.34G>T (p.Glu12Ter)
c.1276G>T (p.Glu426Ter)
c.1183G>T (p.Glu395Ter)
c.1135G>T (p.Glu379Ter)
 gnomAD v4
1g.197055790C>GCA344001234F13Bc.1279G>C (p.Glu427Gln)
c.34G>C (p.Glu12Gln)
c.1276G>C (p.Glu426Gln)
c.1183G>C (p.Glu395Gln)
c.1135G>C (p.Glu379Gln)
1g.197055790C>TCA344001230F13Bc.1279G>A (p.Glu427Lys)
c.34G>A (p.Glu12Lys)
c.1276G>A (p.Glu426Lys)
c.1183G>A (p.Glu395Lys)
c.1135G>A (p.Glu379Lys)
1g.197055791A=CA1217911226F13Bc.1278T= (p.Asn426=)
c.33T= (p.Asn11=)
c.1275T= (p.Asn425=)
c.1182T= (p.Asn394=)
c.1134T= (p.Asn378=)
1g.197055791A>CCA344001236F13Bc.1278T>G (p.Asn426Lys)
c.33T>G (p.Asn11Lys)
c.1275T>G (p.Asn425Lys)
c.1182T>G (p.Asn394Lys)
c.1134T>G (p.Asn378Lys)
1g.197055791A>GCA422667816F13Bc.1278T>C (p.Asn426=)
c.33T>C (p.Asn11=)
c.1275T>C (p.Asn425=)
c.1182T>C (p.Asn394=)
c.1134T>C (p.Asn378=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197055791A>TCA344001237F13Bc.1278T>A (p.Asn426Lys)
c.33T>A (p.Asn11Lys)
c.1275T>A (p.Asn425Lys)
c.1182T>A (p.Asn394Lys)
c.1134T>A (p.Asn378Lys)
1g.197055792T>ACA344001239F13Bc.1277A>T (p.Asn426Ile)
c.32A>T (p.Asn11Ile)
c.1274A>T (p.Asn425Ile)
c.1181A>T (p.Asn394Ile)
c.1133A>T (p.Asn378Ile)
1g.197055792T>CCA344001241F13Bc.1277A>G (p.Asn426Ser)
c.32A>G (p.Asn11Ser)
c.1274A>G (p.Asn425Ser)
c.1181A>G (p.Asn394Ser)
c.1133A>G (p.Asn378Ser)
1g.197055792T>GCA344001243F13Bc.1277A>C (p.Asn426Thr)
c.32A>C (p.Asn11Thr)
c.1274A>C (p.Asn425Thr)
c.1181A>C (p.Asn394Thr)
c.1133A>C (p.Asn378Thr)
1g.197055793T>ACA344001247F13Bc.1276A>T (p.Asn426Tyr)
c.31A>T (p.Asn11Tyr)
c.1273A>T (p.Asn425Tyr)
c.1180A>T (p.Asn394Tyr)
c.1132A>T (p.Asn378Tyr)
1g.197055793T>CCA344001249F13Bc.1276A>G (p.Asn426Asp)
c.31A>G (p.Asn11Asp)
c.1273A>G (p.Asn425Asp)
c.1180A>G (p.Asn394Asp)
c.1132A>G (p.Asn378Asp)
 dbSNP
1g.197055793T>GCA344001252F13Bc.1276A>C (p.Asn426His)
c.31A>C (p.Asn11His)
c.1273A>C (p.Asn425His)
c.1180A>C (p.Asn394His)
c.1132A>C (p.Asn378His)
 gnomAD v4
1g.197055793T=CA1217911227F13Bc.1276A= (p.Asn426=)
c.31A= (p.Asn11=)
c.1273A= (p.Asn425=)
c.1180A= (p.Asn394=)
c.1132A= (p.Asn378=)
1g.197055794G>ACA422667818F13Bc.1275C>T (p.Cys425=)
c.30C>T (p.Cys10=)
c.1272C>T (p.Cys424=)
c.1179C>T (p.Cys393=)
c.1131C>T (p.Cys377=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197055794G>CCA344001253F13Bc.1275C>G (p.Cys425Trp)
c.30C>G (p.Cys10Trp)
c.1272C>G (p.Cys424Trp)
c.1179C>G (p.Cys393Trp)
c.1131C>G (p.Cys377Trp)
1g.197055794G=CA1217911228F13Bc.1275C= (p.Cys425=)
c.30C= (p.Cys10=)
c.1272C= (p.Cys424=)
c.1179C= (p.Cys393=)
c.1131C= (p.Cys377=)
1g.197055794G>TCA344001254F13Bc.1275C>A (p.Cys425Ter)
c.30C>A (p.Cys10Ter)
c.1272C>A (p.Cys424Ter)
c.1179C>A (p.Cys393Ter)
c.1131C>A (p.Cys377Ter)
1g.197055795C>ACA344001260F13Bc.1274G>T (p.Cys425Phe)
c.29G>T (p.Cys10Phe)
c.1271G>T (p.Cys424Phe)
c.1178G>T (p.Cys393Phe)
c.1130G>T (p.Cys377Phe)
 gnomAD v4
1g.197055795C>GCA344001258F13Bc.1274G>C (p.Cys425Ser)
c.29G>C (p.Cys10Ser)
c.1271G>C (p.Cys424Ser)
c.1178G>C (p.Cys393Ser)
c.1130G>C (p.Cys377Ser)
1g.197055795C>TCA344001256F13Bc.1274G>A (p.Cys425Tyr)
c.29G>A (p.Cys10Tyr)
c.1271G>A (p.Cys424Tyr)
c.1178G>A (p.Cys393Tyr)
c.1130G>A (p.Cys377Tyr)
1g.197055796A=CA1217911229F13Bc.1273T= (p.Cys425=)
c.28T= (p.Cys10=)
c.1270T= (p.Cys424=)
c.1177T= (p.Cys393=)
c.1129T= (p.Cys377=)
1g.197055796A>CCA344001262F13Bc.1273T>G (p.Cys425Gly)
c.28T>G (p.Cys10Gly)
c.1270T>G (p.Cys424Gly)
c.1177T>G (p.Cys393Gly)
c.1129T>G (p.Cys377Gly)
1g.197055796A>GCA344001265F13Bc.1273T>C (p.Cys425Arg)
c.28T>C (p.Cys10Arg)
c.1270T>C (p.Cys424Arg)
c.1177T>C (p.Cys393Arg)
c.1129T>C (p.Cys377Arg)
 dbSNP gnomAD v4
1g.197055796A>TCA344001266F13Bc.1273T>A (p.Cys425Ser)
c.28T>A (p.Cys10Ser)
c.1270T>A (p.Cys424Ser)
c.1177T>A (p.Cys393Ser)
c.1129T>A (p.Cys377Ser)
1g.197055797T>ACA344001269F13Bc.1272A>T (p.Arg424Ser)
c.27A>T (p.Arg9Ser)
c.1269A>T (p.Arg423Ser)
c.1176A>T (p.Arg392Ser)
c.1128A>T (p.Arg376Ser)
 dbSNP gnomAD v4
1g.197055797T>CCA422667820F13Bc.1272A>G (p.Arg424=)
c.27A>G (p.Arg9=)
c.1269A>G (p.Arg423=)
c.1176A>G (p.Arg392=)
c.1128A>G (p.Arg376=)
 dbSNP
1g.197055797T>GCA344001270F13Bc.1272A>C (p.Arg424Ser)
c.27A>C (p.Arg9Ser)
c.1269A>C (p.Arg423Ser)
c.1176A>C (p.Arg392Ser)
c.1128A>C (p.Arg376Ser)
1g.197055797T=CA1217911230F13Bc.1272A= (p.Arg424=)
c.27A= (p.Arg9=)
c.1269A= (p.Arg423=)
c.1176A= (p.Arg392=)
c.1128A= (p.Arg376=)
1g.197055798C>ACA344001272F13Bc.1271G>T (p.Arg424Ile)
c.26G>T (p.Arg9Ile)
c.1268G>T (p.Arg423Ile)
c.1175G>T (p.Arg392Ile)
c.1127G>T (p.Arg376Ile)
1g.197055798C>GCA344001275F13Bc.1271G>C (p.Arg424Thr)
c.26G>C (p.Arg9Thr)
c.1268G>C (p.Arg423Thr)
c.1175G>C (p.Arg392Thr)
c.1127G>C (p.Arg376Thr)
1g.197055798C>TCA344001276F13Bc.1271G>A (p.Arg424Lys)
c.26G>A (p.Arg9Lys)
c.1268G>A (p.Arg423Lys)
c.1175G>A (p.Arg392Lys)
c.1127G>A (p.Arg376Lys)
1g.197055798dupCA1010902816F13Bc.1271dup (p.Cys425MetfsTer3)
c.26dup (p.Cys10MetfsTer3)
c.1268dup (p.Cys424MetfsTer3)
c.1175dup (p.Cys393MetfsTer3)
c.1127dup (p.Cys377MetfsTer3)
 dbSNP gnomAD v3 gnomAD v4
1g.197055799T>ACA344001279F13Bc.1270A>T (p.Arg424Ter)
c.25A>T (p.Arg9Ter)
c.1267A>T (p.Arg423Ter)
c.1174A>T (p.Arg392Ter)
c.1126A>T (p.Arg376Ter)
1g.197055799T>CCA35873321F13Bc.1270A>G (p.Arg424Gly)
c.25A>G (p.Arg9Gly)
c.1267A>G (p.Arg423Gly)
c.1174A>G (p.Arg392Gly)
c.1126A>G (p.Arg376Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.197055799T>GCA422667822F13Bc.1270A>C (p.Arg424=)
c.25A>C (p.Arg9=)
c.1267A>C (p.Arg423=)
c.1174A>C (p.Arg392=)
c.1126A>C (p.Arg376=)
1g.197055799T=CA1217911231F13Bc.1270A= (p.Arg424=)
c.25A= (p.Arg9=)
c.1267A= (p.Arg423=)
c.1174A= (p.Arg392=)
c.1126A= (p.Arg376=)
1g.197055800A=CA1217911232F13Bc.1269T= (p.Tyr423=)
c.24T= (p.Tyr8=)
c.1266T= (p.Tyr422=)
c.1173T= (p.Tyr391=)
c.1125T= (p.Tyr375=)
1g.197055800A>CCA344001282F13Bc.1269T>G (p.Tyr423Ter)
c.24T>G (p.Tyr8Ter)
c.1266T>G (p.Tyr422Ter)
c.1173T>G (p.Tyr391Ter)
c.1125T>G (p.Tyr375Ter)
1g.197055800A>GCA35873323F13Bc.1269T>C (p.Tyr423=)
c.24T>C (p.Tyr8=)
c.1266T>C (p.Tyr422=)
c.1173T>C (p.Tyr391=)
c.1125T>C (p.Tyr375=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197055800A>TCA344001284F13Bc.1269T>A (p.Tyr423Ter)
c.24T>A (p.Tyr8Ter)
c.1266T>A (p.Tyr422Ter)
c.1173T>A (p.Tyr391Ter)
c.1125T>A (p.Tyr375Ter)
1g.197055801T>ACA344001289F13Bc.1268A>T (p.Tyr423Phe)
c.23A>T (p.Tyr8Phe)
c.1265A>T (p.Tyr422Phe)
c.1172A>T (p.Tyr391Phe)
c.1124A>T (p.Tyr375Phe)
1g.197055801T>CCA344001292F13Bc.1268A>G (p.Tyr423Cys)
c.23A>G (p.Tyr8Cys)
c.1265A>G (p.Tyr422Cys)
c.1172A>G (p.Tyr391Cys)
c.1124A>G (p.Tyr375Cys)
1g.197055801T>GCA344001287F13Bc.1268A>C (p.Tyr423Ser)
c.23A>C (p.Tyr8Ser)
c.1265A>C (p.Tyr422Ser)
c.1172A>C (p.Tyr391Ser)
c.1124A>C (p.Tyr375Ser)
1g.197055802A>CCA344001299F13Bc.1267T>G (p.Tyr423Asp)
c.22T>G (p.Tyr8Asp)
c.1264T>G (p.Tyr422Asp)
c.1171T>G (p.Tyr391Asp)
c.1123T>G (p.Tyr375Asp)
1g.197055802A>GCA344001295F13Bc.1267T>C (p.Tyr423His)
c.22T>C (p.Tyr8His)
c.1264T>C (p.Tyr422His)
c.1171T>C (p.Tyr391His)
c.1123T>C (p.Tyr375His)
1g.197055802A>TCA344001297F13Bc.1267T>A (p.Tyr423Asn)
c.22T>A (p.Tyr8Asn)
c.1264T>A (p.Tyr422Asn)
c.1171T>A (p.Tyr391Asn)
c.1123T>A (p.Tyr375Asn)
1g.197055803T>ACA344001300F13Bc.1266A>T (p.Glu422Asp)
c.21A>T (p.Glu7Asp)
c.1263A>T (p.Glu421Asp)
c.1170A>T (p.Glu390Asp)
c.1122A>T (p.Glu374Asp)
1g.197055803T>CCA422667824F13Bc.1266A>G (p.Glu422=)
c.21A>G (p.Glu7=)
c.1263A>G (p.Glu421=)
c.1170A>G (p.Glu390=)
c.1122A>G (p.Glu374=)
 gnomAD v4
1g.197055803T>GCA344001302F13Bc.1266A>C (p.Glu422Asp)
c.21A>C (p.Glu7Asp)
c.1263A>C (p.Glu421Asp)
c.1170A>C (p.Glu390Asp)
c.1122A>C (p.Glu374Asp)
1g.197055804T>ACA344001305F13Bc.1265A>T (p.Glu422Val)
c.20A>T (p.Glu7Val)
c.1262A>T (p.Glu421Val)
c.1169A>T (p.Glu390Val)
c.1121A>T (p.Glu374Val)
1g.197055804T>CCA344001306F13Bc.1265A>G (p.Glu422Gly)
c.20A>G (p.Glu7Gly)
c.1262A>G (p.Glu421Gly)
c.1169A>G (p.Glu390Gly)
c.1121A>G (p.Glu374Gly)
 gnomAD v4
1g.197055804T>GCA344001308F13Bc.1265A>C (p.Glu422Ala)
c.20A>C (p.Glu7Ala)
c.1262A>C (p.Glu421Ala)
c.1169A>C (p.Glu390Ala)
c.1121A>C (p.Glu374Ala)
1g.197055805C>ACA344001311F13Bc.1264G>T (p.Glu422Ter)
c.19G>T (p.Glu7Ter)
c.1261G>T (p.Glu421Ter)
c.1168G>T (p.Glu390Ter)
c.1120G>T (p.Glu374Ter)
1g.197055805C>GCA344001312F13Bc.1264G>C (p.Glu422Gln)
c.19G>C (p.Glu7Gln)
c.1261G>C (p.Glu421Gln)
c.1168G>C (p.Glu390Gln)
c.1120G>C (p.Glu374Gln)
1g.197055805C>TCA344001316F13Bc.1264G>A (p.Glu422Lys)
c.19G>A (p.Glu7Lys)
c.1261G>A (p.Glu421Lys)
c.1168G>A (p.Glu390Lys)
c.1120G>A (p.Glu374Lys)
1g.197055806C>ACA422667825F13Bc.1263G>T (p.Val421=)
c.18G>T (p.Val6=)
c.1260G>T (p.Val420=)
c.1167G>T (p.Val389=)
c.1119G>T (p.Val373=)
1g.197055806C>GCA422667826F13Bc.1263G>C (p.Val421=)
c.18G>C (p.Val6=)
c.1260G>C (p.Val420=)
c.1167G>C (p.Val389=)
c.1119G>C (p.Val373=)
1g.197055806C>TCA422667827F13Bc.1263G>A (p.Val421=)
c.18G>A (p.Val6=)
c.1260G>A (p.Val420=)
c.1167G>A (p.Val389=)
c.1119G>A (p.Val373=)
 gnomAD v4 COSMIC
1g.197055807A=CA1217911233F13Bc.1262T= (p.Val421=)
c.17T= (p.Val6=)
c.1259T= (p.Val420=)
c.1166T= (p.Val389=)
c.1118T= (p.Val373=)
1g.197055807A>CCA344001319F13Bc.1262T>G (p.Val421Gly)
c.17T>G (p.Val6Gly)
c.1259T>G (p.Val420Gly)
c.1166T>G (p.Val389Gly)
c.1118T>G (p.Val373Gly)
1g.197055807A>GCA344001321F13Bc.1262T>C (p.Val421Ala)
c.17T>C (p.Val6Ala)
c.1259T>C (p.Val420Ala)
c.1166T>C (p.Val389Ala)
c.1118T>C (p.Val373Ala)
1g.197055807A>TCA344001323F13Bc.1262T>A (p.Val421Glu)
c.17T>A (p.Val6Glu)
c.1259T>A (p.Val420Glu)
c.1166T>A (p.Val389Glu)
c.1118T>A (p.Val373Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.197055808C>ACA344001330F13Bc.1261G>T (p.Val421Leu)
c.16G>T (p.Val6Leu)
c.1258G>T (p.Val420Leu)
c.1165G>T (p.Val389Leu)
c.1117G>T (p.Val373Leu)
1g.197055808C>GCA344001325F13Bc.1261G>C (p.Val421Leu)
c.16G>C (p.Val6Leu)
c.1258G>C (p.Val420Leu)
c.1165G>C (p.Val389Leu)
c.1117G>C (p.Val373Leu)
1g.197055808C>TCA344001327F13Bc.1261G>A (p.Val421Met)
c.16G>A (p.Val6Met)
c.1258G>A (p.Val420Met)
c.1165G>A (p.Val389Met)
c.1117G>A (p.Val373Met)
1g.197055809T>ACA1308372F13Bc.1260A>T (p.Ser420=)
c.15A>T (p.Ser5=)
c.1257A>T (p.Ser419=)
c.1164A>T (p.Ser388=)
c.1116A>T (p.Ser372=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197055809T>CCA422667831F13Bc.1260A>G (p.Ser420=)
c.15A>G (p.Ser5=)
c.1257A>G (p.Ser419=)
c.1164A>G (p.Ser388=)
c.1116A>G (p.Ser372=)
 gnomAD v4
1g.197055809T>GCA422667830F13Bc.1260A>C (p.Ser420=)
c.15A>C (p.Ser5=)
c.1257A>C (p.Ser419=)
c.1164A>C (p.Ser388=)
c.1116A>C (p.Ser372=)
 dbSNP gnomAD v2
1g.197055809T=CA1217911234F13Bc.1260A= (p.Ser420=)
c.15A= (p.Ser5=)
c.1257A= (p.Ser419=)
c.1164A= (p.Ser388=)
c.1116A= (p.Ser372=)
1g.197055810G>ACA344001333F13Bc.1259C>T (p.Ser420Leu)
c.14C>T (p.Ser5Leu)
c.1256C>T (p.Ser419Leu)
c.1163C>T (p.Ser388Leu)
c.1115C>T (p.Ser372Leu)
1g.197055810G>CCA344001335F13Bc.1259C>G (p.Ser420Ter)
c.14C>G (p.Ser5Ter)
c.1256C>G (p.Ser419Ter)
c.1163C>G (p.Ser388Ter)
c.1115C>G (p.Ser372Ter)
1g.197055810G>TCA344001338F13Bc.1259C>A (p.Ser420Ter)
c.14C>A (p.Ser5Ter)
c.1256C>A (p.Ser419Ter)
c.1163C>A (p.Ser388Ter)
c.1115C>A (p.Ser372Ter)
1g.197055811A=CA1217911235F13Bc.1258T= (p.Ser420=)
c.13T= (p.Ser5=)
c.1255T= (p.Ser419=)
c.1162T= (p.Ser388=)
c.1114T= (p.Ser372=)
1g.197055811A>CCA344001340F13Bc.1258T>G (p.Ser420Ala)
c.13T>G (p.Ser5Ala)
c.1255T>G (p.Ser419Ala)
c.1162T>G (p.Ser388Ala)
c.1114T>G (p.Ser372Ala)
 dbSNP
1g.197055811A>GCA344001341F13Bc.1258T>C (p.Ser420Pro)
c.13T>C (p.Ser5Pro)
c.1255T>C (p.Ser419Pro)
c.1162T>C (p.Ser388Pro)
c.1114T>C (p.Ser372Pro)
1g.197055811A>TCA344001343F13Bc.1258T>A (p.Ser420Thr)
c.13T>A (p.Ser5Thr)
c.1255T>A (p.Ser419Thr)
c.1162T>A (p.Ser388Thr)
c.1114T>A (p.Ser372Thr)
1g.197055812G>ACA422667832F13Bc.1257C>T (p.Ser419=)
c.12C>T (p.Ser4=)
c.1254C>T (p.Ser418=)
c.1161C>T (p.Ser387=)
c.1113C>T (p.Ser371=)
 gnomAD v4
1g.197055812G>CCA422667833F13Bc.1257C>G (p.Ser419=)
c.12C>G (p.Ser4=)
c.1254C>G (p.Ser418=)
c.1161C>G (p.Ser387=)
c.1113C>G (p.Ser371=)
1g.197055812G=CA1217911236F13Bc.1257C= (p.Ser419=)
c.12C= (p.Ser4=)
c.1254C= (p.Ser418=)
c.1161C= (p.Ser387=)
c.1113C= (p.Ser371=)
1g.197055812G>TCA1308373F13Bc.1257C>A (p.Ser419=)
c.12C>A (p.Ser4=)
c.1254C>A (p.Ser418=)
c.1161C>A (p.Ser387=)
c.1113C>A (p.Ser371=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055813G>ACA35873326F13Bc.1256C>T (p.Ser419Phe)
c.11C>T (p.Ser4Phe)
c.1253C>T (p.Ser418Phe)
c.1160C>T (p.Ser387Phe)
c.1112C>T (p.Ser371Phe)
 dbSNP gnomAD v4 COSMIC
1g.197055813G>CCA344001347F13Bc.1256C>G (p.Ser419Cys)
c.11C>G (p.Ser4Cys)
c.1253C>G (p.Ser418Cys)
c.1160C>G (p.Ser387Cys)
c.1112C>G (p.Ser371Cys)
1g.197055813G=CA1217911237F13Bc.1256C= (p.Ser419=)
c.11C= (p.Ser4=)
c.1253C= (p.Ser418=)
c.1160C= (p.Ser387=)
c.1112C= (p.Ser371=)
1g.197055813G>TCA344001349F13Bc.1256C>A (p.Ser419Tyr)
c.11C>A (p.Ser4Tyr)
c.1253C>A (p.Ser418Tyr)
c.1160C>A (p.Ser387Tyr)
c.1112C>A (p.Ser371Tyr)
1g.197055814A>CCA344001355F13Bc.1255T>G (p.Ser419Ala)
c.10T>G (p.Ser4Ala)
c.1252T>G (p.Ser418Ala)
c.1159T>G (p.Ser387Ala)
c.1111T>G (p.Ser371Ala)
1g.197055814A>GCA344001353F13Bc.1255T>C (p.Ser419Pro)
c.10T>C (p.Ser4Pro)
c.1252T>C (p.Ser418Pro)
c.1159T>C (p.Ser387Pro)
c.1111T>C (p.Ser371Pro)
 gnomAD v4
1g.197055814A>TCA344001351F13Bc.1255T>A (p.Ser419Thr)
c.10T>A (p.Ser4Thr)
c.1252T>A (p.Ser418Thr)
c.1159T>A (p.Ser387Thr)
c.1111T>A (p.Ser371Thr)
1g.197055815T>ACA422667835F13Bc.1254A>T (p.Gly418=)
c.9A>T (p.Gly3=)
c.1251A>T (p.Gly417=)
c.1158A>T (p.Gly386=)
c.1110A>T (p.Gly370=)
1g.197055815T>CCA422667836F13Bc.1254A>G (p.Gly418=)
c.9A>G (p.Gly3=)
c.1251A>G (p.Gly417=)
c.1158A>G (p.Gly386=)
c.1110A>G (p.Gly370=)
1g.197055815T>GCA422667837F13Bc.1254A>C (p.Gly418=)
c.9A>C (p.Gly3=)
c.1251A>C (p.Gly417=)
c.1158A>C (p.Gly386=)
c.1110A>C (p.Gly370=)
1g.197055816C>ACA344001357F13Bc.1253G>T (p.Gly418Val)
c.8G>T (p.Gly3Val)
c.1250G>T (p.Gly417Val)
c.1157G>T (p.Gly386Val)
c.1109G>T (p.Gly370Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197055816C=CA1217911238F13Bc.1253G= (p.Gly418=)
c.8G= (p.Gly3=)
c.1250G= (p.Gly417=)
c.1157G= (p.Gly386=)
c.1109G= (p.Gly370=)
1g.197055816C>GCA344001359F13Bc.1253G>C (p.Gly418Ala)
c.8G>C (p.Gly3Ala)
c.1250G>C (p.Gly417Ala)
c.1157G>C (p.Gly386Ala)
c.1109G>C (p.Gly370Ala)
1g.197055816C>TCA344001362F13Bc.1253G>A (p.Gly418Glu)
c.8G>A (p.Gly3Glu)
c.1250G>A (p.Gly417Glu)
c.1157G>A (p.Gly386Glu)
c.1109G>A (p.Gly370Glu)
 COSMIC
1g.197055817C>ACA344001363F13Bc.1252G>T (p.Gly418Ter)
c.7G>T (p.Gly3Ter)
c.1249G>T (p.Gly417Ter)
c.1156G>T (p.Gly386Ter)
c.1108G>T (p.Gly370Ter)
1g.197055817C=CA1217911239F13Bc.1252G= (p.Gly418=)
c.7G= (p.Gly3=)
c.1249G= (p.Gly417=)
c.1156G= (p.Gly386=)
c.1108G= (p.Gly370=)
1g.197055817C>GCA344001366F13Bc.1252G>C (p.Gly418Arg)
c.7G>C (p.Gly3Arg)
c.1249G>C (p.Gly417Arg)
c.1156G>C (p.Gly386Arg)
c.1108G>C (p.Gly370Arg)
 dbSNP
1g.197055817C>TCA344001367F13Bc.1252G>A (p.Gly418Arg)
c.7G>A (p.Gly3Arg)
c.1249G>A (p.Gly417Arg)
c.1156G>A (p.Gly386Arg)
c.1108G>A (p.Gly370Arg)
1g.197055818T>ACA422667841F13Bc.1251A>T (p.Thr417=)
c.6A>T (p.Thr2=)
c.1248A>T (p.Thr416=)
c.1155A>T (p.Thr385=)
c.1107A>T (p.Thr369=)
1g.197055818T>CCA1308374F13Bc.1251A>G (p.Thr417=)
c.6A>G (p.Thr2=)
c.1248A>G (p.Thr416=)
c.1155A>G (p.Thr385=)
c.1107A>G (p.Thr369=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055818T>GCA422667842F13Bc.1251A>C (p.Thr417=)
c.6A>C (p.Thr2=)
c.1248A>C (p.Thr416=)
c.1155A>C (p.Thr385=)
c.1107A>C (p.Thr369=)
1g.197055818T=CA1217911240F13Bc.1251A= (p.Thr417=)
c.6A= (p.Thr2=)
c.1248A= (p.Thr416=)
c.1155A= (p.Thr385=)
c.1107A= (p.Thr369=)
1g.197055819G>ACA344001370F13Bc.1250C>T (p.Thr417Ile)
c.5C>T (p.Thr2Ile)
c.1247C>T (p.Thr416Ile)
c.1154C>T (p.Thr385Ile)
c.1106C>T (p.Thr369Ile)
 gnomAD v4
1g.197055819G>CCA344001379F13Bc.1250C>G (p.Thr417Arg)
c.5C>G (p.Thr2Arg)
c.1247C>G (p.Thr416Arg)
c.1154C>G (p.Thr385Arg)
c.1106C>G (p.Thr369Arg)
1g.197055819G=CA1217911241F13Bc.1250C= (p.Thr417=)
c.5C= (p.Thr2=)
c.1247C= (p.Thr416=)
c.1154C= (p.Thr385=)
c.1106C= (p.Thr369=)
1g.197055819G>TCA344001381F13Bc.1250C>A (p.Thr417Lys)
c.5C>A (p.Thr2Lys)
c.1247C>A (p.Thr416Lys)
c.1154C>A (p.Thr385Lys)
c.1106C>A (p.Thr369Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.197055820T>ACA344001385F13Bc.1249A>T (p.Thr417Ser)
c.4A>T (p.Thr2Ser)
c.1246A>T (p.Thr416Ser)
c.1153A>T (p.Thr385Ser)
c.1105A>T (p.Thr369Ser)
1g.197055820T>CCA344001387F13Bc.1249A>G (p.Thr417Ala)
c.4A>G (p.Thr2Ala)
c.1246A>G (p.Thr416Ala)
c.1153A>G (p.Thr385Ala)
c.1105A>G (p.Thr369Ala)
 dbSNP gnomAD v4
1g.197055820T>GCA344001390F13Bc.1249A>C (p.Thr417Pro)
c.4A>C (p.Thr2Pro)
c.1246A>C (p.Thr416Pro)
c.1153A>C (p.Thr385Pro)
c.1105A>C (p.Thr369Pro)
1g.197055820T=CA1217911242F13Bc.1249A= (p.Thr417=)
c.4A= (p.Thr2=)
c.1246A= (p.Thr416=)
c.1153A= (p.Thr385=)
c.1105A= (p.Thr369=)
1g.197055821T>ACA422667843F13Bc.1248A>T (p.Ala416=)
c.3A>T (p.Ala1=)
c.1245A>T (p.Ala415=)
c.1152A>T (p.Ala384=)
c.1104A>T (p.Ala368=)
1g.197055821T>CCA422667844F13Bc.1248A>G (p.Ala416=)
c.3A>G (p.Ala1=)
c.1245A>G (p.Ala415=)
c.1152A>G (p.Ala384=)
c.1104A>G (p.Ala368=)
1g.197055821T>GCA422667845F13Bc.1248A>C (p.Ala416=)
c.3A>C (p.Ala1=)
c.1245A>C (p.Ala415=)
c.1152A>C (p.Ala384=)
c.1104A>C (p.Ala368=)
1g.197055822G>ACA344001394F13Bc.1247C>T (p.Ala416Val)
c.2C>T (p.Ala1Val)
c.1244C>T (p.Ala415Val)
c.1151C>T (p.Ala384Val)
c.1103C>T (p.Ala368Val)
 gnomAD v4
1g.197055822G>CCA344001391F13Bc.1247C>G (p.Ala416Gly)
c.2C>G (p.Ala1Gly)
c.1244C>G (p.Ala415Gly)
c.1151C>G (p.Ala384Gly)
c.1103C>G (p.Ala368Gly)
1g.197055822G=CA1217911243F13Bc.1247C= (p.Ala416=)
c.2C= (p.Ala1=)
c.1244C= (p.Ala415=)
c.1151C= (p.Ala384=)
c.1103C= (p.Ala368=)
1g.197055822G>TCA1308375F13Bc.1247C>A (p.Ala416Glu)
c.2C>A (p.Ala1Glu)
c.1244C>A (p.Ala415Glu)
c.1151C>A (p.Ala384Glu)
c.1103C>A (p.Ala368Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197055823C>ACA344001397F13Bc.1246G>T (p.Ala416Ser)
c.1G>T (p.Ala1Ser)
c.1243G>T (p.Ala415Ser)
c.1150G>T (p.Ala384Ser)
c.1102G>T (p.Ala368Ser)
1g.197055823C>GCA344001400F13Bc.1246G>C (p.Ala416Pro)
c.1G>C (p.Ala1Pro)
c.1243G>C (p.Ala415Pro)
c.1150G>C (p.Ala384Pro)
c.1102G>C (p.Ala368Pro)
1g.197055823C>TCA344001401F13Bc.1246G>A (p.Ala416Thr)
c.1G>A (p.Ala1Thr)
c.1243G>A (p.Ala415Thr)
c.1150G>A (p.Ala384Thr)
c.1102G>A (p.Ala368Thr)
1g.197055824A>CCA344001404F13Bc.1245T>G (p.Tyr415Ter)
c.1242T>G (p.Tyr414Ter)
c.1149T>G (p.Tyr383Ter)
c.1101T>G (p.Tyr367Ter)
1g.197055824A>GCA422667849F13Bc.1245T>C (p.Tyr415=)
c.1242T>C (p.Tyr414=)
c.1149T>C (p.Tyr383=)
c.1101T>C (p.Tyr367=)
1g.197055824A>TCA344001405F13Bc.1245T>A (p.Tyr415Ter)
c.1242T>A (p.Tyr414Ter)
c.1149T>A (p.Tyr383Ter)
c.1101T>A (p.Tyr367Ter)
1g.197055825T>ACA344001407F13Bc.1244A>T (p.Tyr415Phe)
c.1241A>T (p.Tyr414Phe)
c.1148A>T (p.Tyr383Phe)
c.1100A>T (p.Tyr367Phe)
1g.197055825T>CCA344001409F13Bc.1244A>G (p.Tyr415Cys)
c.1241A>G (p.Tyr414Cys)
c.1148A>G (p.Tyr383Cys)
c.1100A>G (p.Tyr367Cys)
1g.197055825T>GCA1308376F13Bc.1244A>C (p.Tyr415Ser)
c.1241A>C (p.Tyr414Ser)
c.1148A>C (p.Tyr383Ser)
c.1100A>C (p.Tyr367Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197055825T=CA1217911244F13Bc.1244A= (p.Tyr415=)
c.1241A= (p.Tyr414=)
c.1148A= (p.Tyr383=)
c.1100A= (p.Tyr367=)
1g.197055826A>CCA344001411F13Bc.1243T>G (p.Tyr415Asp)
c.1240T>G (p.Tyr414Asp)
c.1147T>G (p.Tyr383Asp)
c.1099T>G (p.Tyr367Asp)
1g.197055826A>GCA344001413F13Bc.1243T>C (p.Tyr415His)
c.1240T>C (p.Tyr414His)
c.1147T>C (p.Tyr383His)
c.1099T>C (p.Tyr367His)
1g.197055826A>TCA344001414F13Bc.1243T>A (p.Tyr415Asn)
c.1240T>A (p.Tyr414Asn)
c.1147T>A (p.Tyr383Asn)
c.1099T>A (p.Tyr367Asn)
1g.197055827G>ACA422667850F13Bc.1242C>T (p.Ser414=)
c.1239C>T (p.Ser413=)
c.1146C>T (p.Ser382=)
c.1098C>T (p.Ser366=)
1g.197055827G>CCA344001416F13Bc.1242C>G (p.Ser414Arg)
c.1239C>G (p.Ser413Arg)
c.1146C>G (p.Ser382Arg)
c.1098C>G (p.Ser366Arg)
1g.197055827G=CA1217911245F13Bc.1242C= (p.Ser414=)
c.1239C= (p.Ser413=)
c.1146C= (p.Ser382=)
c.1098C= (p.Ser366=)
1g.197055827G>TCA1308377F13Bc.1242C>A (p.Ser414Arg)
c.1239C>A (p.Ser413Arg)
c.1146C>A (p.Ser382Arg)
c.1098C>A (p.Ser366Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197055828C>ACA344001421F13Bc.1241G>T (p.Ser414Ile)
c.1238G>T (p.Ser413Ile)
c.1145G>T (p.Ser382Ile)
c.1097G>T (p.Ser366Ile)
1g.197055828C=CA1217911246F13Bc.1241G= (p.Ser414=)
c.1238G= (p.Ser413=)
c.1145G= (p.Ser382=)
c.1097G= (p.Ser366=)
1g.197055828C>GCA344001422F13Bc.1241G>C (p.Ser414Thr)
c.1238G>C (p.Ser413Thr)
c.1145G>C (p.Ser382Thr)
c.1097G>C (p.Ser366Thr)
1g.197055828C>TCA344001419F13Bc.1241G>A (p.Ser414Asn)
c.1238G>A (p.Ser413Asn)
c.1145G>A (p.Ser382Asn)
c.1097G>A (p.Ser366Asn)
 dbSNP gnomAD v4
1g.197055829T>ACA344001425F13Bc.1240A>T (p.Ser414Cys)
c.1237A>T (p.Ser413Cys)
c.1144A>T (p.Ser382Cys)
c.1096A>T (p.Ser366Cys)
1g.197055829T>CCA344001423F13Bc.1240A>G (p.Ser414Gly)
c.1237A>G (p.Ser413Gly)
c.1144A>G (p.Ser382Gly)
c.1096A>G (p.Ser366Gly)
1g.197055829T>GCA344001426F13Bc.1240A>C (p.Ser414Arg)
c.1237A>C (p.Ser413Arg)
c.1144A>C (p.Ser382Arg)
c.1096A>C (p.Ser366Arg)

Number of alleles fetched