Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.30307936_30311263delCA658653869 ClinVar
Xg.30308209_30308223delCA2695232158NR0B1c.1144_1158del (p.Lys382_Leu386del)
c.259_273del (p.Lys87_Leu91del)
Xg.30308222A=CA2422040373NR0B1c.1142T= (p.Leu381=)
c.257T= (p.Leu86=)
Xg.30308222A>CCA412546290NR0B1c.1142T>G (p.Leu381Arg)
c.257T>G (p.Leu86Arg)
Xg.30308222A>GCA412546292NR0B1c.1142T>C (p.Leu381Pro)
c.257T>C (p.Leu86Pro)
ClinVar dbSNP
Xg.30308222A>TCA255638NR0B1c.1142T>A (p.Leu381His)
c.257T>A (p.Leu86His)
ClinVar dbSNP
Xg.30308223G>ACA260499NR0B1c.1141C>T (p.Leu381Phe)
c.256C>T (p.Leu86Phe)
ClinVar dbSNP
Xg.30308223G>CCA412546296NR0B1c.1141C>G (p.Leu381Val)
c.256C>G (p.Leu86Val)
Xg.30308223G=CA2422040374NR0B1c.1141C= (p.Leu381=)
c.256C= (p.Leu86=)
Xg.30308223G>TCA412546298NR0B1c.1141C>A (p.Leu381Ile)
c.256C>A (p.Leu86Ile)
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)

Number of alleles fetched