Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.30307936_30311263delCA658653869 ClinVar
Xg.30308224G>ACA515717408NR0B1c.1140C>T (p.Tyr380=)
c.255C>T (p.Tyr85=)
dbSNP COSMIC COSMIC
Xg.30308224G>CCA412546301NR0B1c.1140C>G (p.Tyr380Ter)
c.255C>G (p.Tyr85Ter)
Xg.30308224G=CA2422040375NR0B1c.1140C= (p.Tyr380=)
c.255C= (p.Tyr85=)
Xg.30308224G>TCA412546302NR0B1c.1140C>A (p.Tyr380Ter)
c.255C>A (p.Tyr85Ter)
Xg.30308225T>ACA412546306NR0B1c.1139A>T (p.Tyr380Phe)
c.254A>T (p.Tyr85Phe)
Xg.30308225T>CCA412546307NR0B1c.1139A>G (p.Tyr380Cys)
c.254A>G (p.Tyr85Cys)
dbSNP gnomAD v2
Xg.30308225T>GCA412546310NR0B1c.1139A>C (p.Tyr380Ser)
c.254A>C (p.Tyr85Ser)
Xg.30308225T=CA2422040376NR0B1c.1139A= (p.Tyr380=)
c.254A= (p.Tyr85=)
Xg.30308226A=CA2422040377NR0B1c.1138T= (p.Tyr380=)
c.253T= (p.Tyr85=)
Xg.30308226A>CCA255639NR0B1c.1138T>G (p.Tyr380Asp)
c.253T>G (p.Tyr85Asp)
ClinVar dbSNP
Xg.30308226A>GCA412546313NR0B1c.1138T>C (p.Tyr380His)
c.253T>C (p.Tyr85His)
Xg.30308226A>TCA412546312NR0B1c.1138T>A (p.Tyr380Asn)
c.253T>A (p.Tyr85Asn)
Xg.30308226_30308227insTCA2695232160NR0B1c.1137_1138insA (p.Tyr380IlefsTer9)
c.252_253insA (p.Tyr85IlefsTer9)
Xg.30308227G>ACA515717409NR0B1c.1137C>T (p.Ala379=)
c.252C>T (p.Ala84=)
gnomAD v4
Xg.30308227G>CCA515717410NR0B1c.1137C>G (p.Ala379=)
c.252C>G (p.Ala84=)
Xg.30308227G>TCA515717411NR0B1c.1137C>A (p.Ala379=)
c.252C>A (p.Ala84=)
Xg.30308228G>ACA412546316NR0B1c.1136C>T (p.Ala379Val)
c.251C>T (p.Ala84Val)
dbSNP gnomAD v3 gnomAD v4
Xg.30308228G>CCA412546319NR0B1c.1136C>G (p.Ala379Gly)
c.251C>G (p.Ala84Gly)
Xg.30308228G>TCA412546321NR0B1c.1136C>A (p.Ala379Asp)
c.251C>A (p.Ala84Asp)
COSMIC COSMIC
Xg.30308229C>ACA412546323NR0B1c.1135G>T (p.Ala379Ser)
c.250G>T (p.Ala84Ser)
Xg.30308229C>GCA412546326NR0B1c.1135G>C (p.Ala379Pro)
c.250G>C (p.Ala84Pro)
Xg.30308229C>TCA412546328NR0B1c.1135G>A (p.Ala379Thr)
c.250G>A (p.Ala84Thr)
COSMIC COSMIC
Xg.30308230G>ACA515717412NR0B1c.1134C>T (p.Tyr378=)
c.249C>T (p.Tyr83=)
dbSNP gnomAD v2 gnomAD v4
Xg.30308230G>CCA412546329NR0B1c.1134C>G (p.Tyr378Ter)
c.249C>G (p.Tyr83Ter)
Xg.30308230G=CA2422040378NR0B1c.1134C= (p.Tyr378=)
c.249C= (p.Tyr83=)
Xg.30308230G>TCA412546331NR0B1c.1134C>A (p.Tyr378Ter)
c.249C>A (p.Tyr83Ter)
Xg.30308231T>ACA412546332NR0B1c.1133A>T (p.Tyr378Phe)
c.248A>T (p.Tyr83Phe)
Xg.30308231T>CCA412546333NR0B1c.1133A>G (p.Tyr378Cys)
c.248A>G (p.Tyr83Cys)
Xg.30308231T>GCA412546335NR0B1c.1133A>C (p.Tyr378Ser)
c.248A>C (p.Tyr83Ser)
Xg.30308232delCA2695232161NR0B1c.1132del (p.Tyr378ThrfsTer20)
c.247del (p.Tyr83ThrfsTer27)
Xg.30308232A>CCA412546341NR0B1c.1132T>G (p.Tyr378Asp)
c.247T>G (p.Tyr83Asp)
Xg.30308232A>GCA412546339NR0B1c.1132T>C (p.Tyr378His)
c.247T>C (p.Tyr83His)
Xg.30308232A>TCA412546337NR0B1c.1132T>A (p.Tyr378Asn)
c.247T>A (p.Tyr83Asn)
Xg.30308233C>ACA412546344NR0B1c.1131G>T (p.Glu377Asp)
c.246G>T (p.Glu82Asp)
Xg.30308233C>GCA412546346NR0B1c.1131G>C (p.Glu377Asp)
c.246G>C (p.Glu82Asp)
Xg.30308233C>TCA515717413NR0B1c.1131G>A (p.Glu377=)
c.246G>A (p.Glu82=)
gnomAD v4
Xg.30308234delCA2695232163NR0B1c.1130del (p.Glu377GlyfsTer21)
c.245del (p.Glu82GlyfsTer28)
Xg.30308234T>ACA412546349NR0B1c.1130A>T (p.Glu377Val)
c.245A>T (p.Glu82Val)
Xg.30308234T>CCA412546351NR0B1c.1130A>G (p.Glu377Gly)
c.245A>G (p.Glu82Gly)
Xg.30308234T>GCA412546353NR0B1c.1130A>C (p.Glu377Ala)
c.245A>C (p.Glu82Ala)
Xg.30308234delinsACCA2695232162NR0B1c.1130delinsGT (p.Glu377GlyfsTer12)
c.245delinsGT (p.Glu82GlyfsTer12)
Xg.30308235C>ACA412546356NR0B1c.1129G>T (p.Glu377Ter)
c.244G>T (p.Glu82Ter)
Xg.30308235C>GCA412546358NR0B1c.1129G>C (p.Glu377Gln)
c.244G>C (p.Glu82Gln)
Xg.30308235C>TCA412546360NR0B1c.1129G>A (p.Glu377Lys)
c.244G>A (p.Glu82Lys)
Xg.30308236C>ACA412546363NR0B1c.1128G>T (p.Lys376Asn)
c.243G>T (p.Lys81Asn)
Xg.30308236C>GCA412546365NR0B1c.1128G>C (p.Lys376Asn)
c.243G>C (p.Lys81Asn)
Xg.30308236C>TCA515717414NR0B1c.1128G>A (p.Lys376=)
c.243G>A (p.Lys81=)
Xg.30308237T>ACA412546368NR0B1c.1127A>T (p.Lys376Met)
c.242A>T (p.Lys81Met)
Xg.30308237T>CCA412546369NR0B1c.1127A>G (p.Lys376Arg)
c.242A>G (p.Lys81Arg)
Xg.30308237T>GCA412546372NR0B1c.1127A>C (p.Lys376Thr)
c.242A>C (p.Lys81Thr)
Xg.30308238T>ACA412546378NR0B1c.1126A>T (p.Lys376Ter)
c.241A>T (p.Lys81Ter)
Xg.30308238T>CCA412546375NR0B1c.1126A>G (p.Lys376Glu)
c.241A>G (p.Lys81Glu)
gnomAD v4
Xg.30308238T>GCA412546377NR0B1c.1126A>C (p.Lys376Gln)
c.241A>C (p.Lys81Gln)
Xg.30308239G>ACA515717415NR0B1c.1125C>T (p.Thr375=)
c.240C>T (p.Thr80=)
ClinVar dbSNP
Xg.30308239G>CCA515717416NR0B1c.1125C>G (p.Thr375=)
c.240C>G (p.Thr80=)
Xg.30308239G=CA2422040379NR0B1c.1125C= (p.Thr375=)
c.240C= (p.Thr80=)
Xg.30308239G>TCA515717417NR0B1c.1125C>A (p.Thr375=)
c.240C>A (p.Thr80=)
Xg.30308240G>ACA412546381NR0B1c.1124C>T (p.Thr375Ile)
c.239C>T (p.Thr80Ile)
Xg.30308240G>CCA412546382NR0B1c.1124C>G (p.Thr375Ser)
c.239C>G (p.Thr80Ser)
Xg.30308240G=CA2422040380NR0B1c.1124C= (p.Thr375=)
c.239C= (p.Thr80=)
Xg.30308240G>TCA412546385NR0B1c.1124C>A (p.Thr375Asn)
c.239C>A (p.Thr80Asn)
Xg.30308240_30308241insACA658684287NR0B1c.1123_1124insT (p.Thr375IlefsTer14)
c.238_239insT (p.Thr80IlefsTer14)
ClinVar dbSNP
Xg.30308241T>ACA412546387NR0B1c.1123A>T (p.Thr375Ser)
c.238A>T (p.Thr80Ser)
Xg.30308241T>CCA412546390NR0B1c.1123A>G (p.Thr375Ala)
c.238A>G (p.Thr80Ala)
Xg.30308241T>GCA412546392NR0B1c.1123A>C (p.Thr375Pro)
c.238A>C (p.Thr80Pro)
Xg.30308242A>CCA412546395NR0B1c.1122T>G (p.Ser374Arg)
c.237T>G (p.Ser79Arg)
Xg.30308242A>GCA515717418NR0B1c.1122T>C (p.Ser374=)
c.237T>C (p.Ser79=)
Xg.30308242A>TCA412546397NR0B1c.1122T>A (p.Ser374Arg)
c.237T>A (p.Ser79Arg)
Xg.30308243C>ACA412546400NR0B1c.1121G>T (p.Ser374Ile)
c.236G>T (p.Ser79Ile)
Xg.30308243C=CA2422040381NR0B1c.1121G= (p.Ser374=)
c.236G= (p.Ser79=)
Xg.30308243C>GCA412546402NR0B1c.1121G>C (p.Ser374Thr)
c.236G>C (p.Ser79Thr)
Xg.30308243C>TCA412546404NR0B1c.1121G>A (p.Ser374Asn)
c.236G>A (p.Ser79Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.30308244T>ACA412546411NR0B1c.1120A>T (p.Ser374Cys)
c.235A>T (p.Ser79Cys)
Xg.30308244T>CCA412546409NR0B1c.1120A>G (p.Ser374Gly)
c.235A>G (p.Ser79Gly)
Xg.30308244T>GCA412546406NR0B1c.1120A>C (p.Ser374Arg)
c.235A>C (p.Ser79Arg)
Xg.30308245G>ACA327975794NR0B1c.1119C>T (p.Ile373=)
c.234C>T (p.Ile78=)
ClinVar dbSNP
Xg.30308245G>CCA412546414NR0B1c.1119C>G (p.Ile373Met)
c.234C>G (p.Ile78Met)
Xg.30308245G=CA2422040382NR0B1c.1119C= (p.Ile373=)
c.234C= (p.Ile78=)
Xg.30308245G>TCA515717419NR0B1c.1119C>A (p.Ile373=)
c.234C>A (p.Ile78=)
Xg.30308246A>CCA412546417NR0B1c.1118T>G (p.Ile373Ser)
c.233T>G (p.Ile78Ser)
Xg.30308246A>GCA412546419NR0B1c.1118T>C (p.Ile373Thr)
c.233T>C (p.Ile78Thr)
Xg.30308246A>TCA412546421NR0B1c.1118T>A (p.Ile373Asn)
c.233T>A (p.Ile78Asn)
Xg.30308247T>ACA412546424NR0B1c.1117A>T (p.Ile373Phe)
c.232A>T (p.Ile78Phe)
Xg.30308247T>CCA412546426NR0B1c.1117A>G (p.Ile373Val)
c.232A>G (p.Ile78Val)
Xg.30308247T>GCA412546428NR0B1c.1117A>C (p.Ile373Leu)
c.232A>C (p.Ile78Leu)
Xg.30308248_30308250delCA2695232164NR0B1c.1115_1117del (p.Asn372del)
c.230_232del (p.Asn77del)
Xg.30308248G>ACA515717420NR0B1c.1116C>T (p.Asn372=)
c.231C>T (p.Asn77=)
Xg.30308248G>CCA412546431NR0B1c.1116C>G (p.Asn372Lys)
c.231C>G (p.Asn77Lys)
Xg.30308248G>TCA412546430NR0B1c.1116C>A (p.Asn372Lys)
c.231C>A (p.Asn77Lys)
Xg.30308249T>ACA412546433NR0B1c.1115A>T (p.Asn372Ile)
c.230A>T (p.Asn77Ile)
Xg.30308249T>CCA412546436NR0B1c.1115A>G (p.Asn372Ser)
c.230A>G (p.Asn77Ser)
Xg.30308249T>GCA412546438NR0B1c.1115A>C (p.Asn372Thr)
c.230A>C (p.Asn77Thr)
gnomAD v4
Xg.30308250T>ACA412546441NR0B1c.1114A>T (p.Asn372Tyr)
c.229A>T (p.Asn77Tyr)
Xg.30308250T>CCA412546443NR0B1c.1114A>G (p.Asn372Asp)
c.229A>G (p.Asn77Asp)
Xg.30308250T>GCA412546445NR0B1c.1114A>C (p.Asn372His)
c.229A>C (p.Asn77His)
Xg.30308251C>ACA515717421NR0B1c.1113G>T (p.Leu371=)
c.228G>T (p.Leu76=)
Xg.30308251C>GCA515717422NR0B1c.1113G>C (p.Leu371=)
c.228G>C (p.Leu76=)
Xg.30308251C>TCA515717423NR0B1c.1113G>A (p.Leu371=)
c.228G>A (p.Leu76=)
Xg.30308252A>CCA412546448NR0B1c.1112T>G (p.Leu371Arg)
c.227T>G (p.Leu76Arg)
Xg.30308252A>GCA412546450NR0B1c.1112T>C (p.Leu371Pro)
c.227T>C (p.Leu76Pro)
Xg.30308252A>TCA412546449NR0B1c.1112T>A (p.Leu371Gln)
c.227T>A (p.Leu76Gln)
Xg.30308253G>ACA515717424NR0B1c.1111C>T (p.Leu371=)
c.226C>T (p.Leu76=)
Xg.30308253G>CCA412546452NR0B1c.1111C>G (p.Leu371Val)
c.226C>G (p.Leu76Val)
Xg.30308253G>TCA412546454NR0B1c.1111C>A (p.Leu371Met)
c.226C>A (p.Leu76Met)
Xg.30308254A>CCA412546457NR0B1c.1110T>G (p.Ser370Arg)
c.225T>G (p.Ser75Arg)
Xg.30308254A>GCA515717425NR0B1c.1110T>C (p.Ser370=)
c.225T>C (p.Ser75=)
Xg.30308254A>TCA412546459NR0B1c.1110T>A (p.Ser370Arg)
c.225T>A (p.Ser75Arg)
Xg.30308255C>ACA412546461NR0B1c.1109G>T (p.Ser370Ile)
c.224G>T (p.Ser75Ile)
Xg.30308255C=CA2422040383NR0B1c.1109G= (p.Ser370=)
c.224G= (p.Ser75=)
Xg.30308255C>GCA412546462NR0B1c.1109G>C (p.Ser370Thr)
c.224G>C (p.Ser75Thr)
Xg.30308255C>TCA412546464NR0B1c.1109G>A (p.Ser370Asn)
c.224G>A (p.Ser75Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.30308256T>ACA412546466NR0B1c.1108A>T (p.Ser370Cys)
c.223A>T (p.Ser75Cys)
COSMIC COSMIC
Xg.30308256T>CCA412546467NR0B1c.1108A>G (p.Ser370Gly)
c.223A>G (p.Ser75Gly)
Xg.30308256T>GCA412546468NR0B1c.1108A>C (p.Ser370Arg)
c.223A>C (p.Ser75Arg)
gnomAD v3 gnomAD v4
Xg.30308257C>ACA412546474NR0B1c.1107G>T (p.Trp369Cys)
c.222G>T (p.Trp74Cys)
Xg.30308257C=CA2422040384NR0B1c.1107G= (p.Trp369=)
c.222G= (p.Trp74=)
Xg.30308257C>GCA412546472NR0B1c.1107G>C (p.Trp369Cys)
c.222G>C (p.Trp74Cys)
dbSNP gnomAD v4
Xg.30308257C>TCA255617NR0B1c.1107G>A (p.Trp369Ter)
c.222G>A (p.Trp74Ter)
ClinVar dbSNP
Xg.30308258C>ACA412546476NR0B1c.1106G>T (p.Trp369Leu)
c.221G>T (p.Trp74Leu)
Xg.30308258C>GCA412546478NR0B1c.1106G>C (p.Trp369Ser)
c.221G>C (p.Trp74Ser)
Xg.30308258C>TCA412546480NR0B1c.1106G>A (p.Trp369Ter)
c.221G>A (p.Trp74Ter)
Xg.30308259A>CCA412546483NR0B1c.1105T>G (p.Trp369Gly)
c.220T>G (p.Trp74Gly)
Xg.30308259A>GCA412546484NR0B1c.1105T>C (p.Trp369Arg)
c.220T>C (p.Trp74Arg)
Xg.30308259A>TCA412546487NR0B1c.1105T>A (p.Trp369Arg)
c.220T>A (p.Trp74Arg)
Xg.30308260G>ACA515717426NR0B1c.1104C>T (p.Cys368=)
c.219C>T (p.Cys73=)
Xg.30308260G>CCA412546489NR0B1c.1104C>G (p.Cys368Trp)
c.219C>G (p.Cys73Trp)
Xg.30308260G>TCA412546492NR0B1c.1104C>A (p.Cys368Ter)
c.219C>A (p.Cys73Ter)
ClinVar
Xg.30308261C>ACA412546494NR0B1c.1103G>T (p.Cys368Phe)
c.218G>T (p.Cys73Phe)
ClinVar
Xg.30308261C>GCA412546497NR0B1c.1103G>C (p.Cys368Ser)
c.218G>C (p.Cys73Ser)
Xg.30308261C>TCA412546499NR0B1c.1103G>A (p.Cys368Tyr)
c.218G>A (p.Cys73Tyr)
Xg.30308262A>CCA412546501NR0B1c.1102T>G (p.Cys368Gly)
c.217T>G (p.Cys73Gly)
Xg.30308262A>GCA412546504NR0B1c.1102T>C (p.Cys368Arg)
c.217T>C (p.Cys73Arg)
Xg.30308262A>TCA412546506NR0B1c.1102T>A (p.Cys368Ser)
c.217T>A (p.Cys73Ser)
Xg.30308263T>ACA412546508NR0B1c.1101A>T (p.Lys367Asn)
c.216A>T (p.Lys72Asn)
Xg.30308263T>CCA515717427NR0B1c.1101A>G (p.Lys367=)
c.216A>G (p.Lys72=)
Xg.30308263T>GCA412546510NR0B1c.1101A>C (p.Lys367Asn)
c.216A>C (p.Lys72Asn)
Xg.30308264T>ACA412546512NR0B1c.1100A>T (p.Lys367Ile)
c.215A>T (p.Lys72Ile)
Xg.30308264T>CCA412546515NR0B1c.1100A>G (p.Lys367Arg)
c.215A>G (p.Lys72Arg)
Xg.30308264T>GCA412546517NR0B1c.1100A>C (p.Lys367Thr)
c.215A>C (p.Lys72Thr)
Xg.30308265T>ACA412546519NR0B1c.1099A>T (p.Lys367Ter)
c.214A>T (p.Lys72Ter)
Xg.30308265T>CCA412546521NR0B1c.1099A>G (p.Lys367Glu)
c.214A>G (p.Lys72Glu)
Xg.30308265T>GCA412546523NR0B1c.1099A>C (p.Lys367Gln)
c.214A>C (p.Lys72Gln)
Xg.30308266G>ACA515717428NR0B1c.1098C>T (p.Ser366=)
c.213C>T (p.Ser71=)
Xg.30308266G>CCA515717429NR0B1c.1098C>G (p.Ser366=)
c.213C>G (p.Ser71=)
Xg.30308266G>TCA515717430NR0B1c.1098C>A (p.Ser366=)
c.213C>A (p.Ser71=)
Xg.30308267G>ACA412546524NR0B1c.1097C>T (p.Ser366Phe)
c.212C>T (p.Ser71Phe)
Xg.30308267G>CCA412546526NR0B1c.1097C>G (p.Ser366Cys)
c.212C>G (p.Ser71Cys)
Xg.30308267G>TCA412546528NR0B1c.1097C>A (p.Ser366Tyr)
c.212C>A (p.Ser71Tyr)
Xg.30308268A>CCA412546530NR0B1c.1096T>G (p.Ser366Ala)
c.211T>G (p.Ser71Ala)
Xg.30308268A>GCA412546531NR0B1c.1096T>C (p.Ser366Pro)
c.211T>C (p.Ser71Pro)
Xg.30308268A>TCA412546533NR0B1c.1096T>A (p.Ser366Thr)
c.211T>A (p.Ser71Thr)
Xg.30308269A>CCA515717433NR0B1c.1095T>G (p.Leu365=)
c.210T>G (p.Leu70=)
Xg.30308269A>GCA515717431NR0B1c.1095T>C (p.Leu365=)
c.210T>C (p.Leu70=)
Xg.30308269A>TCA515717432NR0B1c.1095T>A (p.Leu365=)
c.210T>A (p.Leu70=)
Xg.30308270A=CA2422040385NR0B1c.1094T= (p.Leu365=)
c.209T= (p.Leu70=)
Xg.30308270A>CCA412546539NR0B1c.1094T>G (p.Leu365Arg)
c.209T>G (p.Leu70Arg)
Xg.30308270A>GCA260497NR0B1c.1094T>C (p.Leu365Pro)
c.209T>C (p.Leu70Pro)
ClinVar dbSNP
Xg.30308270A>TCA412546535NR0B1c.1094T>A (p.Leu365His)
c.209T>A (p.Leu70His)
Xg.30308271G>ACA412546547NR0B1c.1093C>T (p.Leu365Phe)
c.208C>T (p.Leu70Phe)
Xg.30308271G>CCA412546542NR0B1c.1093C>G (p.Leu365Val)
c.208C>G (p.Leu70Val)
Xg.30308271G>TCA412546543NR0B1c.1093C>A (p.Leu365Ile)
c.208C>A (p.Leu70Ile)
COSMIC COSMIC
Xg.30308272A>CCA412546549NR0B1c.1092T>G (p.Phe364Leu)
c.207T>G (p.Phe69Leu)
Xg.30308272A>GCA515717434NR0B1c.1092T>C (p.Phe364=)
c.207T>C (p.Phe69=)
Xg.30308272A>TCA412546550NR0B1c.1092T>A (p.Phe364Leu)
c.207T>A (p.Phe69Leu)
Xg.30308274delCA2695232165NR0B1c.1092del (p.Leu365PhefsTer7)
c.207del (p.Leu70PhefsTer7)
Xg.30308273A>CCA412546553NR0B1c.1091T>G (p.Phe364Cys)
c.206T>G (p.Phe69Cys)
Xg.30308273A>GCA412546561NR0B1c.1091T>C (p.Phe364Ser)
c.206T>C (p.Phe69Ser)
Xg.30308273A>TCA412546562NR0B1c.1091T>A (p.Phe364Tyr)
c.206T>A (p.Phe69Tyr)
Xg.30308274A>CCA412546567NR0B1c.1090T>G (p.Phe364Val)
c.205T>G (p.Phe69Val)
Xg.30308274A>GCA412546564NR0B1c.1090T>C (p.Phe364Leu)
c.205T>C (p.Phe69Leu)
Xg.30308274A>TCA412546566NR0B1c.1090T>A (p.Phe364Ile)
c.205T>A (p.Phe69Ile)
Xg.30308275G>ACA515717435NR0B1c.1089C>T (p.Cys363=)
c.204C>T (p.Cys68=)
gnomAD v4
Xg.30308275G>CCA412546570NR0B1c.1089C>G (p.Cys363Trp)
c.204C>G (p.Cys68Trp)
Xg.30308275G>TCA412546571NR0B1c.1089C>A (p.Cys363Ter)
c.204C>A (p.Cys68Ter)
Xg.30308276C>ACA412546573NR0B1c.1088G>T (p.Cys363Phe)
c.203G>T (p.Cys68Phe)
Xg.30308276C>GCA412546575NR0B1c.1088G>C (p.Cys363Ser)
c.203G>C (p.Cys68Ser)
Xg.30308276C>TCA412546578NR0B1c.1088G>A (p.Cys363Tyr)
c.203G>A (p.Cys68Tyr)
Xg.30308277A>CCA412546581NR0B1c.1087T>G (p.Cys363Gly)
c.202T>G (p.Cys68Gly)
Xg.30308277A>GCA412546584NR0B1c.1087T>C (p.Cys363Arg)
c.202T>C (p.Cys68Arg)
Xg.30308277A>TCA412546583NR0B1c.1087T>A (p.Cys363Ser)
c.202T>A (p.Cys68Ser)
Xg.30308278C>ACA412546585NR0B1c.1086G>T (p.Lys362Asn)
c.201G>T (p.Lys67Asn)
Xg.30308278C>GCA412546587NR0B1c.1086G>C (p.Lys362Asn)
c.201G>C (p.Lys67Asn)
Xg.30308278C>TCA515717436NR0B1c.1086G>A (p.Lys362=)
c.201G>A (p.Lys67=)
gnomAD v4
Xg.30308279T>ACA412546589NR0B1c.1085A>T (p.Lys362Met)
c.200A>T (p.Lys67Met)
Xg.30308279T>CCA412546590NR0B1c.1085A>G (p.Lys362Arg)
c.200A>G (p.Lys67Arg)
Xg.30308279T>GCA412546592NR0B1c.1085A>C (p.Lys362Thr)
c.200A>C (p.Lys67Thr)
Xg.30308280T>ACA412546593NR0B1c.1084A>T (p.Lys362Ter)
c.199A>T (p.Lys67Ter)
Xg.30308280T>CCA412546594NR0B1c.1084A>G (p.Lys362Glu)
c.199A>G (p.Lys67Glu)
Xg.30308280T>GCA412546595NR0B1c.1084A>C (p.Lys362Gln)
c.199A>C (p.Lys67Gln)
Xg.30308281G>ACA515717437NR0B1c.1083C>T (p.Ile361=)
c.198C>T (p.Ile66=)
gnomAD v4
Xg.30308281G>CCA412546596NR0B1c.1083C>G (p.Ile361Met)
c.198C>G (p.Ile66Met)
COSMIC COSMIC
Xg.30308281G>TCA515717438NR0B1c.1083C>A (p.Ile361=)
c.198C>A (p.Ile66=)
Xg.30308282A>CCA412546605NR0B1c.1082T>G (p.Ile361Ser)
c.197T>G (p.Ile66Ser)
ClinVar
Xg.30308282A>GCA412546607NR0B1c.1082T>C (p.Ile361Thr)
c.197T>C (p.Ile66Thr)
Xg.30308282A>TCA412546608NR0B1c.1082T>A (p.Ile361Asn)
c.197T>A (p.Ile66Asn)
Xg.30308283T>ACA412546617NR0B1c.1081A>T (p.Ile361Phe)
c.196A>T (p.Ile66Phe)
Xg.30308283T>CCA412546613NR0B1c.1081A>G (p.Ile361Val)
c.196A>G (p.Ile66Val)
gnomAD v4
Xg.30308283T>GCA412546614NR0B1c.1081A>C (p.Ile361Leu)
c.196A>C (p.Ile66Leu)
Xg.30308284G>ACA515717439NR0B1c.1080C>T (p.Ala360=)
c.195C>T (p.Ala65=)
Xg.30308284G>CCA515717440NR0B1c.1080C>G (p.Ala360=)
c.195C>G (p.Ala65=)
Xg.30308284G>TCA515717441NR0B1c.1080C>A (p.Ala360=)
c.195C>A (p.Ala65=)
Xg.30308285G>ACA412546623NR0B1c.1079C>T (p.Ala360Val)
c.194C>T (p.Ala65Val)
Xg.30308285G>CCA412546624NR0B1c.1079C>G (p.Ala360Gly)
c.194C>G (p.Ala65Gly)
Xg.30308285G>TCA412546626NR0B1c.1079C>A (p.Ala360Asp)
c.194C>A (p.Ala65Asp)
Xg.30308286C>ACA412546628NR0B1c.1078G>T (p.Ala360Ser)
c.193G>T (p.Ala65Ser)
Xg.30308286C=CA2422040386NR0B1c.1078G= (p.Ala360=)
c.193G= (p.Ala65=)
Xg.30308286C>GCA412546629NR0B1c.1078G>C (p.Ala360Pro)
c.193G>C (p.Ala65Pro)
dbSNP
Xg.30308286C>TCA412546631NR0B1c.1078G>A (p.Ala360Thr)
c.193G>A (p.Ala65Thr)
Xg.30308287T>ACA412546636NR0B1c.1077A>T (p.Gln359His)
c.192A>T (p.Gln64His)
Xg.30308287T>CCA515717442NR0B1c.1077A>G (p.Gln359=)
c.192A>G (p.Gln64=)
Xg.30308287T>GCA412546634NR0B1c.1077A>C (p.Gln359His)
c.192A>C (p.Gln64His)
Xg.30308288T>ACA412546638NR0B1c.1076A>T (p.Gln359Leu)
c.191A>T (p.Gln64Leu)
Xg.30308288T>CCA412546640NR0B1c.1076A>G (p.Gln359Arg)
c.191A>G (p.Gln64Arg)
Xg.30308288T>GCA412546646NR0B1c.1076A>C (p.Gln359Pro)
c.191A>C (p.Gln64Pro)
Xg.30308289G>ACA327975821NR0B1c.1075C>T (p.Gln359Ter)
c.190C>T (p.Gln64Ter)
dbSNP
Xg.30308289G>CCA412546652NR0B1c.1075C>G (p.Gln359Glu)
c.190C>G (p.Gln64Glu)
Xg.30308289G=CA2422040387NR0B1c.1075C= (p.Gln359=)
c.190C= (p.Gln64=)
Xg.30308289G>TCA412546654NR0B1c.1075C>A (p.Gln359Lys)
c.190C>A (p.Gln64Lys)
Xg.30308290G>ACA515717444NR0B1c.1074C>T (p.Val358=)
c.189C>T (p.Val63=)
Xg.30308290G>CCA515717445NR0B1c.1074C>G (p.Val358=)
c.189C>G (p.Val63=)
Xg.30308290G>TCA515717446NR0B1c.1074C>A (p.Val358=)
c.189C>A (p.Val63=)
Xg.30308291A>CCA412546658NR0B1c.1073T>G (p.Val358Gly)
c.188T>G (p.Val63Gly)
Xg.30308291A>GCA412546655NR0B1c.1073T>C (p.Val358Ala)
c.188T>C (p.Val63Ala)
gnomAD v4
Xg.30308291A>TCA412546656NR0B1c.1073T>A (p.Val358Asp)
c.188T>A (p.Val63Asp)
Xg.30308292C>ACA412546660NR0B1c.1072G>T (p.Val358Phe)
c.187G>T (p.Val63Phe)
Xg.30308292C>GCA412546661NR0B1c.1072G>C (p.Val358Leu)
c.187G>C (p.Val63Leu)
Xg.30308292C>TCA412546664NR0B1c.1072G>A (p.Val358Ile)
c.187G>A (p.Val63Ile)
Xg.30308293C>ACA412546667NR0B1c.1071G>T (p.Gln357His)
c.186G>T (p.Gln62His)
dbSNP gnomAD v4
Xg.30308293C=CA2422040388NR0B1c.1071G= (p.Gln357=)
c.186G= (p.Gln62=)
Xg.30308293C>GCA412546669NR0B1c.1071G>C (p.Gln357His)
c.186G>C (p.Gln62His)
Xg.30308293C>TCA515717448NR0B1c.1071G>A (p.Gln357=)
c.186G>A (p.Gln62=)
gnomAD v4
Xg.30308294T>ACA412546670NR0B1c.1070A>T (p.Gln357Leu)
c.185A>T (p.Gln62Leu)
Xg.30308294T>CCA412546672NR0B1c.1070A>G (p.Gln357Arg)
c.185A>G (p.Gln62Arg)
gnomAD v4
Xg.30308294T>GCA412546676NR0B1c.1070A>C (p.Gln357Pro)
c.185A>C (p.Gln62Pro)
Xg.30308295G>ACA412546677NR0B1c.1069C>T (p.Gln357Ter)
c.184C>T (p.Gln62Ter)
Xg.30308295G>CCA412546678NR0B1c.1069C>G (p.Gln357Glu)
c.184C>G (p.Gln62Glu)
Xg.30308295G>TCA412546679NR0B1c.1069C>A (p.Gln357Lys)
c.184C>A (p.Gln62Lys)
COSMIC
Xg.30308297delCA2695200167NR0B1c.1069del (p.Gln357ArgfsTer15)
c.184del (p.Gln62ArgfsTer15)
ClinVar
Xg.30308296G>ACA10376311NR0B1c.1068C>T (p.Ser356=)
c.183C>T (p.Ser61=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308296G>CCA515717452NR0B1c.1068C>G (p.Ser356=)
c.183C>G (p.Ser61=)
Xg.30308296G=CA2422040389NR0B1c.1068C= (p.Ser356=)
c.183C= (p.Ser61=)
Xg.30308296G>TCA515717451NR0B1c.1068C>A (p.Ser356=)
c.183C>A (p.Ser61=)
Xg.30308297G>ACA10376312NR0B1c.1067C>T (p.Ser356Phe)
c.182C>T (p.Ser61Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308297G>CCA412546680NR0B1c.1067C>G (p.Ser356Cys)
c.182C>G (p.Ser61Cys)
Xg.30308297G=CA2422040390NR0B1c.1067C= (p.Ser356=)
c.182C= (p.Ser61=)
Xg.30308297G>TCA412546681NR0B1c.1067C>A (p.Ser356Tyr)
c.182C>A (p.Ser61Tyr)
Xg.30308298A>CCA412546682NR0B1c.1066T>G (p.Ser356Ala)
c.181T>G (p.Ser61Ala)
Xg.30308298A>GCA412546683NR0B1c.1066T>C (p.Ser356Pro)
c.181T>C (p.Ser61Pro)
Xg.30308298A>TCA412546684NR0B1c.1066T>A (p.Ser356Thr)
c.181T>A (p.Ser61Thr)
Xg.30308299G>ACA10376313NR0B1c.1065C>T (p.Ala355=)
c.180C>T (p.Ala60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.30308299G>CCA515717453NR0B1c.1065C>G (p.Ala355=)
c.180C>G (p.Ala60=)
Xg.30308299G=CA2422040391NR0B1c.1065C= (p.Ala355=)
c.180C= (p.Ala60=)
Xg.30308299G>TCA515717454NR0B1c.1065C>A (p.Ala355=)
c.180C>A (p.Ala60=)
Xg.30308300G>ACA412546685NR0B1c.1064C>T (p.Ala355Val)
c.179C>T (p.Ala60Val)
Xg.30308300G>CCA412546686NR0B1c.1064C>G (p.Ala355Gly)
c.179C>G (p.Ala60Gly)
Xg.30308300G>TCA412546687NR0B1c.1064C>A (p.Ala355Asp)
c.179C>A (p.Ala60Asp)
Xg.30308301C>ACA412546688NR0B1c.1063G>T (p.Ala355Ser)
c.178G>T (p.Ala60Ser)
Xg.30308301C=CA2422040392NR0B1c.1063G= (p.Ala355=)
c.178G= (p.Ala60=)
Xg.30308301C>GCA412546689NR0B1c.1063G>C (p.Ala355Pro)
c.178G>C (p.Ala60Pro)
Xg.30308301C>TCA10376314NR0B1c.1063G>A (p.Ala355Thr)
c.178G>A (p.Ala60Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308302G>ACA515717463NR0B1c.1062C>T (p.Ser354=)
c.177C>T (p.Ser59=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.30308302G>CCA515717465NR0B1c.1062C>G (p.Ser354=)
c.177C>G (p.Ser59=)
ClinVar
Xg.30308302G=CA2422040393NR0B1c.1062C= (p.Ser354=)
c.177C= (p.Ser59=)
Xg.30308302G>TCA10376315NR0B1c.1062C>A (p.Ser354=)
c.177C>A (p.Ser59=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.30308303delCA2695232166NR0B1c.1062del (p.Ala355ProfsTer17)
c.177del (p.Ala60ProfsTer17)
Xg.30308303G>ACA412546690NR0B1c.1061C>T (p.Ser354Phe)
c.176C>T (p.Ser59Phe)
Xg.30308303G>CCA412546691NR0B1c.1061C>G (p.Ser354Cys)
c.176C>G (p.Ser59Cys)
gnomAD v4
Xg.30308303G>TCA412546692NR0B1c.1061C>A (p.Ser354Tyr)
c.176C>A (p.Ser59Tyr)
Xg.30308304A>CCA412546695NR0B1c.1060T>G (p.Ser354Ala)
c.175T>G (p.Ser59Ala)
Xg.30308304A>GCA412546694NR0B1c.1060T>C (p.Ser354Pro)
c.175T>C (p.Ser59Pro)
Xg.30308304A>TCA412546693NR0B1c.1060T>A (p.Ser354Thr)
c.175T>A (p.Ser59Thr)
Xg.30308305G>ACA515945850NR0B1c.1059C>T (p.Pro353=)
c.174C>T (p.Pro58=)
gnomAD v4
Xg.30308305G>CCA515945852NR0B1c.1059C>G (p.Pro353=)
c.174C>G (p.Pro58=)
dbSNP gnomAD v2 gnomAD v4
Xg.30308305G=CA2422040394NR0B1c.1059C= (p.Pro353=)
c.174C= (p.Pro58=)
Xg.30308305G>TCA515945853NR0B1c.1059C>A (p.Pro353=)
c.174C>A (p.Pro58=)
Xg.30308306_30308307delCA2695232167NR0B1c.1058_1059del (p.Pro353LeufsTer?)
c.173_174del (p.Pro58LeufsTer?)
Xg.30308306G>ACA412546696NR0B1c.1058C>T (p.Pro353Leu)
c.173C>T (p.Pro58Leu)
Xg.30308306G>CCA412546697NR0B1c.1058C>G (p.Pro353Arg)
c.173C>G (p.Pro58Arg)
Xg.30308306G>TCA412546698NR0B1c.1058C>A (p.Pro353His)
c.173C>A (p.Pro58His)
gnomAD v4
Xg.30308307G>ACA412546700NR0B1c.1057C>T (p.Pro353Ser)
c.172C>T (p.Pro58Ser)
gnomAD v4
Xg.30308307G>CCA412546701NR0B1c.1057C>G (p.Pro353Ala)
c.172C>G (p.Pro58Ala)
Xg.30308307G>TCA412546702NR0B1c.1057C>A (p.Pro353Thr)
c.172C>A (p.Pro58Thr)
Xg.30308308C>ACA515945859NR0B1c.1056G>T (p.Val352=)
c.171G>T (p.Val57=)
Xg.30308308C>GCA515945861NR0B1c.1056G>C (p.Val352=)
c.171G>C (p.Val57=)
Xg.30308308C>TCA515945863NR0B1c.1056G>A (p.Val352=)
c.171G>A (p.Val57=)
gnomAD v4
Xg.30308309A>CCA412546703NR0B1c.1055T>G (p.Val352Gly)
c.170T>G (p.Val57Gly)
Xg.30308309A>GCA412546704NR0B1c.1055T>C (p.Val352Ala)
c.170T>C (p.Val57Ala)
Xg.30308309A>TCA412546705NR0B1c.1055T>A (p.Val352Glu)
c.170T>A (p.Val57Glu)
Xg.30308310C>ACA412546706NR0B1c.1054G>T (p.Val352Leu)
c.169G>T (p.Val57Leu)
Xg.30308310C>GCA412546713NR0B1c.1054G>C (p.Val352Leu)
c.169G>C (p.Val57Leu)
Xg.30308310C>TCA412546716NR0B1c.1054G>A (p.Val352Met)
c.169G>A (p.Val57Met)
Xg.30308311C>ACA412546718NR0B1c.1053G>T (p.Lys351Asn)
c.168G>T (p.Lys56Asn)
Xg.30308311C>GCA412546719NR0B1c.1053G>C (p.Lys351Asn)
c.168G>C (p.Lys56Asn)
Xg.30308311C>TCA515945871NR0B1c.1053G>A (p.Lys351=)
c.168G>A (p.Lys56=)
gnomAD v4
Xg.30308312T>ACA412546724NR0B1c.1052A>T (p.Lys351Met)
c.167A>T (p.Lys56Met)
Xg.30308312T>CCA412546726NR0B1c.1052A>G (p.Lys351Arg)
c.167A>G (p.Lys56Arg)
Xg.30308312T>GCA412546722NR0B1c.1052A>C (p.Lys351Thr)
c.167A>C (p.Lys56Thr)
Xg.30308313T>ACA412546728NR0B1c.1051A>T (p.Lys351Ter)
c.166A>T (p.Lys56Ter)
Xg.30308313T>CCA412546730NR0B1c.1051A>G (p.Lys351Glu)
c.166A>G (p.Lys56Glu)
Xg.30308313T>GCA412546731NR0B1c.1051A>C (p.Lys351Gln)
c.166A>C (p.Lys56Gln)
Xg.30308314C>ACA412546733NR0B1c.1050G>T (p.Arg350Ser)
c.165G>T (p.Arg55Ser)
Xg.30308314C=CA2422040395NR0B1c.1050G= (p.Arg350=)
c.165G= (p.Arg55=)
Xg.30308314C>GCA412546735NR0B1c.1050G>C (p.Arg350Ser)
c.165G>C (p.Arg55Ser)
Xg.30308314C>TCA515945876NR0B1c.1050G>A (p.Arg350=)
c.165G>A (p.Arg55=)
dbSNP
Xg.30308315C>ACA412546737NR0B1c.1049G>T (p.Arg350Met)
c.164G>T (p.Arg55Met)
Xg.30308315C>GCA412546740NR0B1c.1049G>C (p.Arg350Thr)
c.164G>C (p.Arg55Thr)
Xg.30308315C>TCA412546741NR0B1c.1049G>A (p.Arg350Lys)
c.164G>A (p.Arg55Lys)
Xg.30308315_30308316delCA2548635674NR0B1c.1048_1049del (p.Arg350GlufsTer?)
c.163_164del (p.Arg55GlufsTer?)
Xg.30308316T>ACA412546743NR0B1c.1048A>T (p.Arg350Trp)
c.163A>T (p.Arg55Trp)
Xg.30308316T>CCA412546745NR0B1c.1048A>G (p.Arg350Gly)
c.163A>G (p.Arg55Gly)
Xg.30308316T>GCA515945878NR0B1c.1048A>C (p.Arg350=)
c.163A>C (p.Arg55=)
Xg.30308317G>ACA515945882NR0B1c.1047C>T (p.Ala349=)
c.162C>T (p.Ala54=)
gnomAD v4
Xg.30308317G>CCA515945881NR0B1c.1047C>G (p.Ala349=)
c.162C>G (p.Ala54=)
Xg.30308317G>TCA515945880NR0B1c.1047C>A (p.Ala349=)
c.162C>A (p.Ala54=)
COSMIC COSMIC
Xg.30308319_30308331delCA2695232168NR0B1c.1035_1047del (p.Pro346GlyfsTer22)
c.150_162del (p.Pro51GlyfsTer22)
Xg.30308318G>ACA412546748NR0B1c.1046C>T (p.Ala349Val)
c.161C>T (p.Ala54Val)
dbSNP gnomAD v4
Xg.30308318G>CCA412546750NR0B1c.1046C>G (p.Ala349Gly)
c.161C>G (p.Ala54Gly)
Xg.30308318G=CA2422040396NR0B1c.1046C= (p.Ala349=)
c.161C= (p.Ala54=)
Xg.30308318G>TCA412546751NR0B1c.1046C>A (p.Ala349Asp)
c.161C>A (p.Ala54Asp)
Xg.30308319C>ACA412546757NR0B1c.1045G>T (p.Ala349Ser)
c.160G>T (p.Ala54Ser)
gnomAD v4
Xg.30308319C>GCA412546754NR0B1c.1045G>C (p.Ala349Pro)
c.160G>C (p.Ala54Pro)
Xg.30308319C>TCA412546756NR0B1c.1045G>A (p.Ala349Thr)
c.160G>A (p.Ala54Thr)
Xg.30308320C>ACA412546759NR0B1c.1044G>T (p.Glu348Asp)
c.159G>T (p.Glu53Asp)
dbSNP
Xg.30308320C=CA2422040397NR0B1c.1044G= (p.Glu348=)
c.159G= (p.Glu53=)
Xg.30308320C>GCA412546768NR0B1c.1044G>C (p.Glu348Asp)
c.159G>C (p.Glu53Asp)
Xg.30308320C>TCA515945887NR0B1c.1044G>A (p.Glu348=)
c.159G>A (p.Glu53=)
gnomAD v4
Xg.30308321T>ACA412546771NR0B1c.1043A>T (p.Glu348Val)
c.158A>T (p.Glu53Val)
Xg.30308321T>CCA412546773NR0B1c.1043A>G (p.Glu348Gly)
c.158A>G (p.Glu53Gly)
Xg.30308321T>GCA412546774NR0B1c.1043A>C (p.Glu348Ala)
c.158A>C (p.Glu53Ala)
Xg.30308321_30308322delinsTCCA2422040398NR0B1c.1042_1043delinsGA (p.Glu348=)
c.157_158delinsGA (p.Glu53=)
Xg.30308322C>ACA412546780NR0B1c.1042G>T (p.Glu348Ter)
c.157G>T (p.Glu53Ter)
Xg.30308322C>GCA412546782NR0B1c.1042G>C (p.Glu348Gln)
c.157G>C (p.Glu53Gln)
Xg.30308322C>TCA412546784NR0B1c.1042G>A (p.Glu348Lys)
c.157G>A (p.Glu53Lys)
Xg.30308323delCA916083874NR0B1c.1042del (p.Glu348ArgfsTer24)
c.157del (p.Glu53ArgfsTer24)
ClinVar dbSNP
Xg.30308323C>ACA515945893NR0B1c.1041G>T (p.Ala347=)
c.156G>T (p.Ala52=)
Xg.30308323C>GCA515945896NR0B1c.1041G>C (p.Ala347=)
c.156G>C (p.Ala52=)
Xg.30308323C>TCA515945895NR0B1c.1041G>A (p.Ala347=)
c.156G>A (p.Ala52=)
Xg.30308324G>ACA412546787NR0B1c.1040C>T (p.Ala347Val)
c.155C>T (p.Ala52Val)
Xg.30308324G>CCA327975849NR0B1c.1040C>G (p.Ala347Gly)
c.155C>G (p.Ala52Gly)
dbSNP
Xg.30308324G=CA2422040399NR0B1c.1040C= (p.Ala347=)
c.155C= (p.Ala52=)
Xg.30308324G>TCA10376316NR0B1c.1040C>A (p.Ala347Glu)
c.155C>A (p.Ala52Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched