Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31089444_31089492delinsAAGATTCATACTGCTCACGATCTACAGGACGAGTACAATACAAGTTTCCCA2293654926DSC2c.148_196delinsGGAAACTTGTATTGTACTCGTCCTGTAGATCGTGAGCAGTATGAATCTT (p.Gly50=)
c.577_625delinsGGAAACTTGTATTGTACTCGTCCTGTAGATCGTGAGCAGTATGAATCTT (p.Gly193=)
18g.31089447_31089494delCA038870DSC2c.148_195del (p.Gly50_Ser65del)
c.577_624del (p.Gly193_Ser208del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089462G>ACA022869DSC2c.178C>T (p.Arg60Cys)
c.607C>T (p.Arg203Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.31089462G>CCA402113414DSC2c.178C>G (p.Arg60Gly)
c.607C>G (p.Arg203Gly)
18g.31089462G=CA2293654930DSC2c.178C= (p.Arg60=)
c.607C= (p.Arg203=)
18g.31089462G>TCA402113416DSC2c.178C>A (p.Arg60Ser)
c.607C>A (p.Arg203Ser)
 gnomAD v4
18g.31089463A=CA2293654931DSC2c.177T= (p.Asp59=)
c.606T= (p.Asp202=)
18g.31089463A>CCA402113418DSC2c.177T>G (p.Asp59Glu)
c.606T>G (p.Asp202Glu)
 gnomAD v4
18g.31089463A>GCA503389572DSC2c.177T>C (p.Asp59=)
c.606T>C (p.Asp202=)
 dbSNP
18g.31089463A>TCA402113420DSC2c.177T>A (p.Asp59Glu)
c.606T>A (p.Asp202Glu)
18g.31089464T>ACA402113422DSC2c.176A>T (p.Asp59Val)
c.605A>T (p.Asp202Val)
 dbSNP gnomAD v2 gnomAD v4
18g.31089464T>CCA402113424DSC2c.176A>G (p.Asp59Gly)
c.605A>G (p.Asp202Gly)
 gnomAD v4
18g.31089464T>GCA402113425DSC2c.176A>C (p.Asp59Ala)
c.605A>C (p.Asp202Ala)
18g.31089464T=CA2293654932DSC2c.176A= (p.Asp59=)
c.605A= (p.Asp202=)
18g.31089465C>ACA402113430DSC2c.175G>T (p.Asp59Tyr)
c.604G>T (p.Asp202Tyr)
 gnomAD v4
18g.31089465C=CA2293654933DSC2c.175G= (p.Asp59=)
c.604G= (p.Asp202=)
18g.31089465C>GCA402113428DSC2c.175G>C (p.Asp59His)
c.604G>C (p.Asp202His)
18g.31089465C>TCA022866DSC2c.175G>A (p.Asp59Asn)
c.604G>A (p.Asp202Asn)
 dbSNP gnomAD v4
18g.31089466T>ACA503389588DSC2c.174A>T (p.Val58=)
c.603A>T (p.Val201=)
18g.31089466T>CCA503389590DSC2c.174A>G (p.Val58=)
c.603A>G (p.Val201=)
 gnomAD v4
18g.31089466T>GCA503389586DSC2c.174A>C (p.Val58=)
c.603A>C (p.Val201=)
18g.31089467A=CA2293654934DSC2c.173T= (p.Val58=)
c.602T= (p.Val201=)
18g.31089467A>CCA402113432DSC2c.173T>G (p.Val58Gly)
c.602T>G (p.Val201Gly)
18g.31089467A>GCA402113434DSC2c.173T>C (p.Val58Ala)
c.602T>C (p.Val201Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.31089467A>TCA402113436DSC2c.173T>A (p.Val58Glu)
c.602T>A (p.Val201Glu)
18g.31089468C>ACA402113438DSC2c.172G>T (p.Val58Leu)
c.601G>T (p.Val201Leu)
18g.31089468C=CA2293654935DSC2c.172G= (p.Val58=)
c.601G= (p.Val201=)
18g.31089468C>GCA402113440DSC2c.172G>C (p.Val58Leu)
c.601G>C (p.Val201Leu)
18g.31089468C>TCA038922DSC2c.172G>A (p.Val58Ile)
c.601G>A (p.Val201Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089469A>CCA503389604DSC2c.171T>G (p.Pro57=)
c.600T>G (p.Pro200=)
18g.31089469A>GCA503389606DSC2c.171T>C (p.Pro57=)
c.600T>C (p.Pro200=)
18g.31089469A>TCA503389608DSC2c.171T>A (p.Pro57=)
c.600T>A (p.Pro200=)
18g.31089470G>ACA402113443DSC2c.170C>T (p.Pro57Leu)
c.599C>T (p.Pro200Leu)
18g.31089470G>CCA402113444DSC2c.170C>G (p.Pro57Arg)
c.599C>G (p.Pro200Arg)
 gnomAD v4
18g.31089470G=CA2293654936DSC2c.170C= (p.Pro57=)
c.599C= (p.Pro200=)
18g.31089470G>TCA402113445DSC2c.170C>A (p.Pro57His)
c.599C>A (p.Pro200His)
 dbSNP
18g.31089471G>ACA402113448DSC2c.169C>T (p.Pro57Ser)
c.598C>T (p.Pro200Ser)
 dbSNP
18g.31089471G>CCA402113450DSC2c.169C>G (p.Pro57Ala)
c.598C>G (p.Pro200Ala)
18g.31089471G>TCA402113452DSC2c.169C>A (p.Pro57Thr)
c.598C>A (p.Pro200Thr)
18g.31089472A>CCA503389625DSC2c.168T>G (p.Arg56=)
c.597T>G (p.Arg199=)
18g.31089472A>GCA503389622DSC2c.168T>C (p.Arg56=)
c.597T>C (p.Arg199=)
18g.31089472A>TCA503389620DSC2c.168T>A (p.Arg56=)
c.597T>A (p.Arg199=)
18g.31089474_31089484delCA2580095605DSC2c.158_168del (p.Tyr53SerfsTer5)
c.587_597del (p.Tyr196SerfsTer5)
 ClinVar
18g.31089473C>ACA402113458DSC2c.167G>T (p.Arg56Leu)
c.596G>T (p.Arg199Leu)
18g.31089473C=CA2293654937DSC2c.167G= (p.Arg56=)
c.596G= (p.Arg199=)
18g.31089473C>GCA402113456DSC2c.167G>C (p.Arg56Pro)
c.596G>C (p.Arg199Pro)
18g.31089473C>TCA038896DSC2c.167G>A (p.Arg56His)
c.596G>A (p.Arg199His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089474G>ACA038881DSC2c.166C>T (p.Arg56Cys)
c.595C>T (p.Arg199Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089474G>CCA402113460DSC2c.166C>G (p.Arg56Gly)
c.595C>G (p.Arg199Gly)
18g.31089474G=CA2293654938DSC2c.166C= (p.Arg56=)
c.595C= (p.Arg199=)
18g.31089474G>TCA402113462DSC2c.166C>A (p.Arg56Ser)
c.595C>A (p.Arg199Ser)
18g.31089474_31089485delinsTGCA2825002674DSC2c.155_166delinsCA (p.Leu52SerfsTer4)
c.584_595delinsCA (p.Leu195SerfsTer4)
 ClinVar
18g.31089475A>CCA503389639DSC2c.165T>G (p.Thr55=)
c.594T>G (p.Thr198=)
18g.31089475A>GCA503389641DSC2c.165T>C (p.Thr55=)
c.594T>C (p.Thr198=)
18g.31089475A>TCA503389644DSC2c.165T>A (p.Thr55=)
c.594T>A (p.Thr198=)
18g.31089476G>ACA402113464DSC2c.164C>T (p.Thr55Ile)
c.593C>T (p.Thr198Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089476G>CCA402113466DSC2c.164C>G (p.Thr55Ser)
c.593C>G (p.Thr198Ser)
18g.31089476G=CA2293654939DSC2c.164C= (p.Thr55=)
c.593C= (p.Thr198=)
18g.31089476G>TCA402113468DSC2c.164C>A (p.Thr55Asn)
c.593C>A (p.Thr198Asn)
18g.31089477T>ACA402113473DSC2c.163A>T (p.Thr55Ser)
c.592A>T (p.Thr198Ser)
18g.31089477T>CCA402113470DSC2c.163A>G (p.Thr55Ala)
c.592A>G (p.Thr198Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089477T>GCA402113471DSC2c.163A>C (p.Thr55Pro)
c.592A>C (p.Thr198Pro)
18g.31089477T=CA2293654940DSC2c.163A= (p.Thr55=)
c.592A= (p.Thr198=)
18g.31089482_31089486delCA2641389063DSC2c.159_163del (p.Cys54SerfsTer6)
c.588_592del (p.Cys197SerfsTer6)
 ClinVar gnomAD v4
18g.31089478A>CCA402113475DSC2c.162T>G (p.Cys54Trp)
c.591T>G (p.Cys197Trp)
18g.31089478A>GCA503389656DSC2c.162T>C (p.Cys54=)
c.591T>C (p.Cys197=)
18g.31089478A>TCA402113477DSC2c.162T>A (p.Cys54Ter)
c.591T>A (p.Cys197Ter)
18g.31089479C>ACA402113479DSC2c.161G>T (p.Cys54Phe)
c.590G>T (p.Cys197Phe)
 ClinVar dbSNP
18g.31089479C>GCA402113482DSC2c.161G>C (p.Cys54Ser)
c.590G>C (p.Cys197Ser)
18g.31089479C>TCA402113484DSC2c.161G>A (p.Cys54Tyr)
c.590G>A (p.Cys197Tyr)
18g.31089480A>CCA402113486DSC2c.160T>G (p.Cys54Gly)
c.589T>G (p.Cys197Gly)
18g.31089480A>GCA402113490DSC2c.160T>C (p.Cys54Arg)
c.589T>C (p.Cys197Arg)
18g.31089480A>TCA402113488DSC2c.160T>A (p.Cys54Ser)
c.589T>A (p.Cys197Ser)
18g.31089481A=CA2293654941DSC2c.159T= (p.Tyr53=)
c.588T= (p.Tyr196=)
18g.31089481A>CCA402113492DSC2c.159T>G (p.Tyr53Ter)
c.588T>G (p.Tyr196Ter)
18g.31089481A>GCA503389671DSC2c.159T>C (p.Tyr53=)
c.588T>C (p.Tyr196=)
 ClinVar dbSNP gnomAD v4
18g.31089481A>TCA402113494DSC2c.159T>A (p.Tyr53Ter)
c.588T>A (p.Tyr196Ter)
18g.31089482T>ACA402113495DSC2c.158A>T (p.Tyr53Phe)
c.587A>T (p.Tyr196Phe)
18g.31089482T>CCA402113497DSC2c.158A>G (p.Tyr53Cys)
c.587A>G (p.Tyr196Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31089482T>GCA402113499DSC2c.158A>C (p.Tyr53Ser)
c.587A>C (p.Tyr196Ser)
18g.31089482T=CA2293654942DSC2c.158A= (p.Tyr53=)
c.587A= (p.Tyr196=)
18g.31089483A>CCA402113501DSC2c.157T>G (p.Tyr53Asp)
c.586T>G (p.Tyr196Asp)
18g.31089483A>GCA402113503DSC2c.157T>C (p.Tyr53His)
c.586T>C (p.Tyr196His)
18g.31089483A>TCA402113505DSC2c.157T>A (p.Tyr53Asn)
c.586T>A (p.Tyr196Asn)
18g.31089484C>ACA402113507DSC2c.156G>T (p.Leu52Phe)
c.585G>T (p.Leu195Phe)
18g.31089484C=CA2293654943DSC2c.156G= (p.Leu52=)
c.585G= (p.Leu195=)
18g.31089484C>GCA402113509DSC2c.156G>C (p.Leu52Phe)
c.585G>C (p.Leu195Phe)
 ClinVar dbSNP gnomAD v4
18g.31089484C>TCA297641825DSC2c.156G>A (p.Leu52=)
c.585G>A (p.Leu195=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31089485A=CA2293654944DSC2c.155T= (p.Leu52=)
c.584T= (p.Leu195=)
18g.31089485A>CCA402113512DSC2c.155T>G (p.Leu52Trp)
c.584T>G (p.Leu195Trp)
18g.31089485A>GCA10577047DSC2c.155T>C (p.Leu52Ser)
c.584T>C (p.Leu195Ser)
 ClinVar dbSNP gnomAD v4
18g.31089485A>TCA402113513DSC2c.155T>A (p.Leu52Ter)
c.584T>A (p.Leu195Ter)
18g.31089486delCA2641389086DSC2c.155del (p.Leu52CysfsTer7)
c.584del (p.Leu195CysfsTer7)
 gnomAD v4
18g.31089486A>CCA402113517DSC2c.154T>G (p.Leu52Val)
c.583T>G (p.Leu195Val)
18g.31089486A>GCA503389696DSC2c.154T>C (p.Leu52=)
c.583T>C (p.Leu195=)
 gnomAD v3 gnomAD v4
18g.31089486A>TCA402113519DSC2c.154T>A (p.Leu52Met)
c.583T>A (p.Leu195Met)
18g.31089487G>ACA503389704DSC2c.153C>T (p.Asn51=)
c.582C>T (p.Asn194=)
18g.31089487G>CCA402113521DSC2c.153C>G (p.Asn51Lys)
c.582C>G (p.Asn194Lys)
18g.31089487G>TCA402113523DSC2c.153C>A (p.Asn51Lys)
c.582C>A (p.Asn194Lys)
18g.31089488T>ACA402113525DSC2c.152A>T (p.Asn51Ile)
c.581A>T (p.Asn194Ile)
18g.31089488T>CCA402113527DSC2c.152A>G (p.Asn51Ser)
c.581A>G (p.Asn194Ser)
18g.31089488T>GCA402113529DSC2c.152A>C (p.Asn51Thr)
c.581A>C (p.Asn194Thr)
18g.31089489T>ACA402113535DSC2c.151A>T (p.Asn51Tyr)
c.580A>T (p.Asn194Tyr)
18g.31089489T>CCA402113533DSC2c.151A>G (p.Asn51Asp)
c.580A>G (p.Asn194Asp)
18g.31089489T>GCA402113531DSC2c.151A>C (p.Asn51His)
c.580A>C (p.Asn194His)
18g.31089490T>ACA503389720DSC2c.150A>T (p.Gly50=)
c.579A>T (p.Gly193=)
18g.31089490T>CCA503389718DSC2c.150A>G (p.Gly50=)
c.579A>G (p.Gly193=)
18g.31089490T>GCA503389716DSC2c.150A>C (p.Gly50=)
c.579A>C (p.Gly193=)
 ClinVar dbSNP
18g.31089490T=CA2293654945DSC2c.150A= (p.Gly50=)
c.579A= (p.Gly193=)
18g.31089491C>ACA402113537DSC2c.149G>T (p.Gly50Val)
c.578G>T (p.Gly193Val)
18g.31089491C>GCA402113538DSC2c.149G>C (p.Gly50Ala)
c.578G>C (p.Gly193Ala)
18g.31089491C>TCA402113539DSC2c.149G>A (p.Gly50Glu)
c.578G>A (p.Gly193Glu)
18g.31089492C>ACA402113541DSC2c.148G>T (p.Gly50Ter)
c.577G>T (p.Gly193Ter)
18g.31089492C>GCA402113543DSC2c.148G>C (p.Gly50Arg)
c.577G>C (p.Gly193Arg)
18g.31089492C>TCA402113545DSC2c.148G>A (p.Gly50Arg)
c.577G>A (p.Gly193Arg)
 COSMIC COSMIC
18g.31089493delCA2641389088DSC2c.147del (p.Gly50GlufsTer9)
c.576del (p.Gly193GlufsTer9)
 gnomAD v4
18g.31089493A>CCA503389735DSC2c.147T>G (p.Thr49=)
c.576T>G (p.Thr192=)
 gnomAD v4
18g.31089493A>GCA503389739DSC2c.147T>C (p.Thr49=)
c.576T>C (p.Thr192=)
 dbSNP
18g.31089493A>TCA503389737DSC2c.147T>A (p.Thr49=)
c.576T>A (p.Thr192=)
18g.31089493_31089495delinsAGTCA2293654946DSC2c.145_147delinsACT (p.Thr49=)
c.574_576delinsACT (p.Thr192=)
18g.31089494G>ACA402113554DSC2c.146C>T (p.Thr49Ile)
c.575C>T (p.Thr192Ile)
 ClinVar dbSNP gnomAD v4
18g.31089494G>CCA402113552DSC2c.146C>G (p.Thr49Ser)
c.575C>G (p.Thr192Ser)
18g.31089494G>TCA402113553DSC2c.146C>A (p.Thr49Asn)
c.575C>A (p.Thr192Asn)
18g.31089496_31089497delCA629136657DSC2c.145_146del (p.Thr49TrpfsTer12)
c.574_575del (p.Thr192TrpfsTer12)
 dbSNP gnomAD v2 gnomAD v4
18g.31089495T>ACA402113555DSC2c.145A>T (p.Thr49Ser)
c.574A>T (p.Thr192Ser)
18g.31089495T>CCA402113556DSC2c.145A>G (p.Thr49Ala)
c.574A>G (p.Thr192Ala)
 gnomAD v4
18g.31089495T>GCA10577048DSC2c.145A>C (p.Thr49Pro)
c.574A>C (p.Thr192Pro)
 ClinVar dbSNP
18g.31089495T=CA2293654947DSC2c.145A= (p.Thr49=)
c.574A= (p.Thr192=)
18g.31089496G>ACA503390233DSC2c.144C>T (p.Asp48=)
c.573C>T (p.Asp191=)
18g.31089496G>CCA402113557DSC2c.144C>G (p.Asp48Glu)
c.573C>G (p.Asp191Glu)
18g.31089496G>TCA402113558DSC2c.144C>A (p.Asp48Glu)
c.573C>A (p.Asp191Glu)
18g.31089497T>ACA402113559DSC2c.143A>T (p.Asp48Val)
c.572A>T (p.Asp191Val)
18g.31089497T>CCA402113560DSC2c.143A>G (p.Asp48Gly)
c.572A>G (p.Asp191Gly)
 ClinVar dbSNP
18g.31089497T>GCA402113561DSC2c.143A>C (p.Asp48Ala)
c.572A>C (p.Asp191Ala)
18g.31089503_31089504dupCA2580612967DSC2c.142_143dup (p.Asp48GlufsTer12)
c.571_572dup (p.Asp191GlufsTer12)
 ClinVar
18g.31089498C>ACA402113562DSC2c.142G>T (p.Asp48Tyr)
c.571G>T (p.Asp191Tyr)
18g.31089498C>GCA402113563DSC2c.142G>C (p.Asp48His)
c.571G>C (p.Asp191His)
18g.31089498C>TCA402113564DSC2c.142G>A (p.Asp48Asn)
c.571G>A (p.Asp191Asn)
 gnomAD v4
18g.31089499T>ACA402113565DSC2c.141A>T (p.Arg47Ser)
c.570A>T (p.Arg190Ser)
18g.31089499T>CCA503390251DSC2c.141A>G (p.Arg47=)
c.570A>G (p.Arg190=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089499T>GCA402113566DSC2c.141A>C (p.Arg47Ser)
c.570A>C (p.Arg190Ser)
18g.31089499T=CA2293654948DSC2c.141A= (p.Arg47=)
c.570A= (p.Arg190=)
18g.31089500C>ACA402113567DSC2c.140G>T (p.Arg47Ile)
c.569G>T (p.Arg190Ile)
18g.31089500C>GCA402113569DSC2c.140G>C (p.Arg47Thr)
c.569G>C (p.Arg190Thr)
18g.31089500C>TCA402113568DSC2c.140G>A (p.Arg47Lys)
c.569G>A (p.Arg190Lys)
18g.31089501T>ACA402113570DSC2c.139A>T (p.Arg47Ter)
c.568A>T (p.Arg190Ter)
18g.31089501T>CCA402113571DSC2c.139A>G (p.Arg47Gly)
c.568A>G (p.Arg190Gly)
18g.31089501T>GCA503390260DSC2c.139A>C (p.Arg47=)
c.568A>C (p.Arg190=)
18g.31089502C>ACA402113572DSC2c.138G>T (p.Glu46Asp)
c.567G>T (p.Glu189Asp)
18g.31089502C>GCA402113573DSC2c.138G>C (p.Glu46Asp)
c.567G>C (p.Glu189Asp)
18g.31089502C>TCA503390264DSC2c.138G>A (p.Glu46=)
c.567G>A (p.Glu189=)
18g.31089503T>ACA402113574DSC2c.137A>T (p.Glu46Val)
c.566A>T (p.Glu189Val)
18g.31089503T>CCA402113575DSC2c.137A>G (p.Glu46Gly)
c.566A>G (p.Glu189Gly)
 ClinVar
18g.31089503T>GCA402113576DSC2c.137A>C (p.Glu46Ala)
c.566A>C (p.Glu189Ala)
18g.31089504C>ACA402113577DSC2c.136G>T (p.Glu46Ter)
c.565G>T (p.Glu189Ter)
 gnomAD v4
18g.31089504C=CA2293654949DSC2c.136G= (p.Glu46=)
c.565G= (p.Glu189=)
18g.31089504C>GCA402113578DSC2c.136G>C (p.Glu46Gln)
c.565G>C (p.Glu189Gln)
18g.31089504C>TCA297641863DSC2c.136G>A (p.Glu46Lys)
c.565G>A (p.Glu189Lys)
 ClinVar dbSNP gnomAD v4
18g.31089505C>ACA503390274DSC2c.135G>T (p.Val45=)
c.564G>T (p.Val188=)
18g.31089505C>GCA503390275DSC2c.135G>C (p.Val45=)
c.564G>C (p.Val188=)
18g.31089505C>TCA503390277DSC2c.135G>A (p.Val45=)
c.564G>A (p.Val188=)
18g.31089506A>CCA402113579DSC2c.134T>G (p.Val45Gly)
c.563T>G (p.Val188Gly)
18g.31089506A>GCA402113580DSC2c.134T>C (p.Val45Ala)
c.563T>C (p.Val188Ala)
18g.31089506A>TCA402113581DSC2c.134T>A (p.Val45Glu)
c.563T>A (p.Val188Glu)
18g.31089507C>ACA038851DSC2c.133G>T (p.Val45Leu)
c.562G>T (p.Val188Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089507C=CA2293654950DSC2c.133G= (p.Val45=)
c.562G= (p.Val188=)
18g.31089507C>GCA402113582DSC2c.133G>C (p.Val45Leu)
c.562G>C (p.Val188Leu)
 gnomAD v4
18g.31089507C>TCA402113583DSC2c.133G>A (p.Val45Met)
c.562G>A (p.Val188Met)
 ClinVar dbSNP gnomAD v4
18g.31089508A=CA2293654951DSC2c.132T= (p.Tyr44=)
c.561T= (p.Tyr187=)
18g.31089508A>CCA402113584DSC2c.132T>G (p.Tyr44Ter)
c.561T>G (p.Tyr187Ter)
18g.31089508A>GCA038831DSC2c.132T>C (p.Tyr44=)
c.561T>C (p.Tyr187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089508A>TCA402113585DSC2c.132T>A (p.Tyr44Ter)
c.561T>A (p.Tyr187Ter)
18g.31089509T>ACA402113586DSC2c.131A>T (p.Tyr44Phe)
c.560A>T (p.Tyr187Phe)
18g.31089509T>CCA402113587DSC2c.131A>G (p.Tyr44Cys)
c.560A>G (p.Tyr187Cys)
 gnomAD v4
18g.31089509T>GCA402113588DSC2c.131A>C (p.Tyr44Ser)
c.560A>C (p.Tyr187Ser)
18g.31089510A=CA2293654952DSC2c.130T= (p.Tyr44=)
c.559T= (p.Tyr187=)
18g.31089510A>CCA402113589DSC2c.130T>G (p.Tyr44Asp)
c.559T>G (p.Tyr187Asp)
 dbSNP
18g.31089510A>GCA402113590DSC2c.130T>C (p.Tyr44His)
c.559T>C (p.Tyr187His)
 ClinVar dbSNP
18g.31089510A>TCA402113591DSC2c.130T>A (p.Tyr44Asn)
c.559T>A (p.Tyr187Asn)
18g.31089511A>CCA402113592DSC2c.129T>G (p.Phe43Leu)
c.558T>G (p.Phe186Leu)
18g.31089511A>GCA503390298DSC2c.129T>C (p.Phe43=)
c.558T>C (p.Phe186=)
18g.31089511A>TCA402113593DSC2c.129T>A (p.Phe43Leu)
c.558T>A (p.Phe186Leu)
18g.31089512A>CCA402113594DSC2c.128T>G (p.Phe43Cys)
c.557T>G (p.Phe186Cys)
18g.31089512A>GCA402113596DSC2c.128T>C (p.Phe43Ser)
c.557T>C (p.Phe186Ser)
18g.31089512A>TCA402113595DSC2c.128T>A (p.Phe43Tyr)
c.557T>A (p.Phe186Tyr)
18g.31089513A>CCA402113597DSC2c.127T>G (p.Phe43Val)
c.556T>G (p.Phe186Val)
18g.31089513A>GCA402113599DSC2c.127T>C (p.Phe43Leu)
c.556T>C (p.Phe186Leu)
18g.31089513A>TCA402113598DSC2c.127T>A (p.Phe43Ile)
c.556T>A (p.Phe186Ile)
18g.31089513_31089514insCCAAACACACCCAACACACA2811993243DSC2c.127_128insGTGTTGGGTGTGTTTGGT (p.Leu42_Phe43insCysValGlyCysValTrp)
c.556_557insGTGTTGGGTGTGTTTGGT (p.Leu185_Phe186insCysValGlyCysValTrp)
18g.31089514T>ACA402113600DSC2c.126A>T (p.Leu42Phe)
c.555A>T (p.Leu185Phe)
18g.31089514T>CCA038808DSC2c.126A>G (p.Leu42=)
c.555A>G (p.Leu185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089514T>GCA402113601DSC2c.126A>C (p.Leu42Phe)
c.555A>C (p.Leu185Phe)
18g.31089514T=CA2293654953DSC2c.126A= (p.Leu42=)
c.555A= (p.Leu185=)
18g.31089515A>CCA402113602DSC2c.125T>G (p.Leu42Ter)
c.554T>G (p.Leu185Ter)
18g.31089515A>GCA402113603DSC2c.125T>C (p.Leu42Ser)
c.554T>C (p.Leu185Ser)
18g.31089515A>TCA402113604DSC2c.125T>A (p.Leu42Ter)
c.554T>A (p.Leu185Ter)
18g.31089516A>CCA402113605DSC2c.124T>G (p.Leu42Val)
c.553T>G (p.Leu185Val)
18g.31089516A>GCA503390316DSC2c.124T>C (p.Leu42=)
c.553T>C (p.Leu185=)
 COSMIC COSMIC
18g.31089516A>TCA402113606DSC2c.124T>A (p.Leu42Ile)
c.553T>A (p.Leu185Ile)
18g.31089517A>CCA402113607DSC2c.123T>G (p.Asn41Lys)
c.552T>G (p.Asn184Lys)
18g.31089517A>GCA503390320DSC2c.123T>C (p.Asn41=)
c.552T>C (p.Asn184=)
18g.31089517A>TCA402113608DSC2c.123T>A (p.Asn41Lys)
c.552T>A (p.Asn184Lys)
18g.31089518T>ACA402113609DSC2c.122A>T (p.Asn41Ile)
c.551A>T (p.Asn184Ile)
18g.31089518T>CCA402113610DSC2c.122A>G (p.Asn41Ser)
c.551A>G (p.Asn184Ser)
18g.31089518T>GCA402113611DSC2c.122A>C (p.Asn41Thr)
c.551A>C (p.Asn184Thr)
18g.31089519T>ACA402113612DSC2c.121A>T (p.Asn41Tyr)
c.550A>T (p.Asn184Tyr)
18g.31089519T>CCA402113614DSC2c.121A>G (p.Asn41Asp)
c.550A>G (p.Asn184Asp)
18g.31089519T>GCA402113613DSC2c.121A>C (p.Asn41His)
c.550A>C (p.Asn184His)
18g.31089520C>ACA038798DSC2c.120G>T (p.Arg40=)
c.549G>T (p.Arg183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089520C=CA2293654954DSC2c.120G= (p.Arg40=)
c.549G= (p.Arg183=)
18g.31089520C>GCA503390332DSC2c.120G>C (p.Arg40=)
c.549G>C (p.Arg183=)
 ClinVar dbSNP
18g.31089520C>TCA503390330DSC2c.120G>A (p.Arg40=)
c.549G>A (p.Arg183=)
 ClinVar COSMIC COSMIC
18g.31089521C>ACA038791DSC2c.119G>T (p.Arg40Leu)
c.548G>T (p.Arg183Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.31089521C=CA2293654955DSC2c.119G= (p.Arg40=)
c.548G= (p.Arg183=)
18g.31089521C>GCA402113615DSC2c.119G>C (p.Arg40Pro)
c.548G>C (p.Arg183Pro)
18g.31089521C>TCA038782DSC2c.119G>A (p.Arg40Gln)
c.548G>A (p.Arg183Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089521_31089522insTGCA2811993244DSC2c.118_119insCA (p.Arg40ProfsTer20)
c.547_548insCA (p.Arg183ProfsTer20)
18g.31089522G>ACA038773DSC2c.118C>T (p.Arg40Trp)
c.547C>T (p.Arg183Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.31089522G>CCA402113616DSC2c.118C>G (p.Arg40Gly)
c.547C>G (p.Arg183Gly)
18g.31089522G=CA2293654956DSC2c.118C= (p.Arg40=)
c.547C= (p.Arg183=)
18g.31089522G>TCA503390342DSC2c.118C>A (p.Arg40=)
c.547C>A (p.Arg183=)
18g.31089523A>CCA503390345DSC2c.117T>G (p.Pro39=)
c.546T>G (p.Pro182=)
18g.31089523A>GCA503390347DSC2c.117T>C (p.Pro39=)
c.546T>C (p.Pro182=)
18g.31089523A>TCA503390349DSC2c.117T>A (p.Pro39=)
c.546T>A (p.Pro182=)
18g.31089524G>ACA402113617DSC2c.116C>T (p.Pro39Leu)
c.545C>T (p.Pro182Leu)
 ClinVar gnomAD v4
18g.31089524G>CCA402113618DSC2c.116C>G (p.Pro39Arg)
c.545C>G (p.Pro182Arg)
18g.31089524G>TCA402113619DSC2c.116C>A (p.Pro39His)
c.545C>A (p.Pro182His)
18g.31089525G>ACA402113622DSC2c.115C>T (p.Pro39Ser)
c.544C>T (p.Pro182Ser)
 COSMIC COSMIC
18g.31089525G>CCA402113621DSC2c.115C>G (p.Pro39Ala)
c.544C>G (p.Pro182Ala)
18g.31089525G>TCA402113620DSC2c.115C>A (p.Pro39Thr)
c.544C>A (p.Pro182Thr)
18g.31089525_31089526delCA2811993245DSC2c.114_115del (p.Glu38AspfsTer23)
c.543_544del (p.Glu181AspfsTer23)
18g.31089526T>ACA402113623DSC2c.114A>T (p.Glu38Asp)
c.543A>T (p.Glu181Asp)
18g.31089526T>CCA503390361DSC2c.114A>G (p.Glu38=)
c.543A>G (p.Glu181=)
18g.31089526T>GCA402113624DSC2c.114A>C (p.Glu38Asp)
c.543A>C (p.Glu181Asp)
18g.31089527T>ACA402113625DSC2c.113A>T (p.Glu38Val)
c.542A>T (p.Glu181Val)
18g.31089527T>CCA402113626DSC2c.113A>G (p.Glu38Gly)
c.542A>G (p.Glu181Gly)
 dbSNP
18g.31089527T>GCA402113627DSC2c.113A>C (p.Glu38Ala)
c.542A>C (p.Glu181Ala)
18g.31089527T=CA2293654957DSC2c.113A= (p.Glu38=)
c.542A= (p.Glu181=)
18g.31089528C>ACA402113628DSC2c.112G>T (p.Glu38Ter)
c.541G>T (p.Glu181Ter)
18g.31089528C>GCA402113629DSC2c.112G>C (p.Glu38Gln)
c.541G>C (p.Glu181Gln)
18g.31089528C>TCA402113630DSC2c.112G>A (p.Glu38Lys)
c.541G>A (p.Glu181Lys)
18g.31089529T>ACA402113631DSC2c.111A>T (p.Gln37His)
c.540A>T (p.Gln180His)
18g.31089529T>CCA503390373DSC2c.111A>G (p.Gln37=)
c.540A>G (p.Gln180=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089529T>GCA402113632DSC2c.111A>C (p.Gln37His)
c.540A>C (p.Gln180His)
18g.31089529T=CA2293654958DSC2c.111A= (p.Gln37=)
c.540A= (p.Gln180=)
18g.31089530T>ACA402113633DSC2c.110A>T (p.Gln37Leu)
c.539A>T (p.Gln180Leu)
18g.31089530T>CCA402113634DSC2c.110A>G (p.Gln37Arg)
c.539A>G (p.Gln180Arg)
18g.31089530T>GCA402113635DSC2c.110A>C (p.Gln37Pro)
c.539A>C (p.Gln180Pro)
18g.31089531G>ACA402113636DSC2c.109C>T (p.Gln37Ter)
c.538C>T (p.Gln180Ter)
 gnomAD v4
18g.31089531G>CCA402113638DSC2c.109C>G (p.Gln37Glu)
c.538C>G (p.Gln180Glu)
18g.31089531G>TCA402113637DSC2c.109C>A (p.Gln37Lys)
c.538C>A (p.Gln180Lys)
18g.31089532G>ACA503390383DSC2c.108C>T (p.Asp36=)
c.537C>T (p.Asp179=)
18g.31089532G>CCA402113639DSC2c.108C>G (p.Asp36Glu)
c.537C>G (p.Asp179Glu)
18g.31089532G=CA2293654959DSC2c.108C= (p.Asp36=)
c.537C= (p.Asp179=)
18g.31089532G>TCA402113640DSC2c.108C>A (p.Asp36Glu)
c.537C>A (p.Asp179Glu)
 ClinVar dbSNP
18g.31089533T>ACA402113641DSC2c.107A>T (p.Asp36Val)
c.536A>T (p.Asp179Val)
18g.31089533T>CCA022861DSC2c.107A>G (p.Asp36Gly)
c.536A>G (p.Asp179Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089533T>GCA402113642DSC2c.107A>C (p.Asp36Ala)
c.536A>C (p.Asp179Ala)
18g.31089533T=CA2293654960DSC2c.107A= (p.Asp36=)
c.536A= (p.Asp179=)
18g.31089534C>ACA402113643DSC2c.106G>T (p.Asp36Tyr)
c.535G>T (p.Asp179Tyr)
 gnomAD v4
18g.31089534C>GCA402113644DSC2c.106G>C (p.Asp36His)
c.535G>C (p.Asp179His)
18g.31089534C>TCA402113645DSC2c.106G>A (p.Asp36Asn)
c.535G>A (p.Asp179Asn)
 gnomAD v4
18g.31089535A=CA2293654961DSC2c.105T= (p.Val35=)
c.534T= (p.Val178=)
18g.31089535A>CCA503390389DSC2c.105T>G (p.Val35=)
c.534T>G (p.Val178=)
 ClinVar dbSNP
18g.31089535A>GCA503390391DSC2c.105T>C (p.Val35=)
c.534T>C (p.Val178=)
18g.31089535A>TCA503390392DSC2c.105T>A (p.Val35=)
c.534T>A (p.Val178=)
18g.31089536A>CCA402113646DSC2c.104T>G (p.Val35Gly)
c.533T>G (p.Val178Gly)
18g.31089536A>GCA402113647DSC2c.104T>C (p.Val35Ala)
c.533T>C (p.Val178Ala)
18g.31089536A>TCA402113648DSC2c.104T>A (p.Val35Asp)
c.533T>A (p.Val178Asp)
18g.31089537C>ACA402113650DSC2c.103G>T (p.Val35Phe)
c.532G>T (p.Val178Phe)
18g.31089537C>GCA402113651DSC2c.103G>C (p.Val35Leu)
c.532G>C (p.Val178Leu)
18g.31089537C>TCA402113649DSC2c.103G>A (p.Val35Ile)
c.532G>A (p.Val178Ile)
18g.31089538T>ACA503390402DSC2c.102A>T (p.Gly34=)
c.531A>T (p.Gly177=)
18g.31089538T>CCA503390403DSC2c.102A>G (p.Gly34=)
c.531A>G (p.Gly177=)
 dbSNP
18g.31089538T>GCA503390406DSC2c.102A>C (p.Gly34=)
c.531A>C (p.Gly177=)
18g.31089538T=CA2293654962DSC2c.102A= (p.Gly34=)
c.531A= (p.Gly177=)
18g.31089539C>ACA402113652DSC2c.101G>T (p.Gly34Val)
c.530G>T (p.Gly177Val)
18g.31089539C=CA2293654963DSC2c.101G= (p.Gly34=)
c.530G= (p.Gly177=)
18g.31089539C>GCA402113653DSC2c.101G>C (p.Gly34Ala)
c.530G>C (p.Gly177Ala)
 ClinVar
18g.31089539C>TCA402113654DSC2c.101G>A (p.Gly34Glu)
c.530G>A (p.Gly177Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.31089540C>ACA402113655DSC2c.100G>T (p.Gly34Ter)
c.529G>T (p.Gly177Ter)
18g.31089540C=CA2293654964DSC2c.100G= (p.Gly34=)
c.529G= (p.Gly177=)
18g.31089540C>GCA402113656DSC2c.100G>C (p.Gly34Arg)
c.529G>C (p.Gly177Arg)
18g.31089540C>TCA402113657DSC2c.100G>A (p.Gly34Arg)
c.529G>A (p.Gly177Arg)
 ClinVar dbSNP gnomAD v4
18g.31089541A>CCA503390414DSC2c.99T>G (p.Pro33=)
c.528T>G (p.Pro176=)
18g.31089541A>GCA503390419DSC2c.99T>C (p.Pro33=)
c.528T>C (p.Pro176=)
18g.31089541A>TCA503390416DSC2c.99T>A (p.Pro33=)
c.528T>A (p.Pro176=)
18g.31089542G>ACA402113658DSC2c.98C>T (p.Pro33Leu)
c.527C>T (p.Pro176Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.31089542G>CCA402113659DSC2c.98C>G (p.Pro33Arg)
c.527C>G (p.Pro176Arg)
 dbSNP
18g.31089542G=CA2293654965DSC2c.98C= (p.Pro33=)
c.527C= (p.Pro176=)
18g.31089542G>TCA402113662DSC2c.98C>A (p.Pro33His)
c.527C>A (p.Pro176His)
18g.31089543G>ACA402113664DSC2c.97C>T (p.Pro33Ser)
c.526C>T (p.Pro176Ser)
18g.31089543G>CCA402113666DSC2c.97C>G (p.Pro33Ala)
c.526C>G (p.Pro176Ala)
 gnomAD v4
18g.31089543G>TCA402113668DSC2c.97C>A (p.Pro33Thr)
c.526C>A (p.Pro176Thr)
18g.31089544A=CA2293654966DSC2c.96T= (p.Gly32=)
c.525T= (p.Gly175=)
18g.31089544A>CCA503390427DSC2c.96T>G (p.Gly32=)
c.525T>G (p.Gly175=)
18g.31089544A>GCA297641928DSC2c.96T>C (p.Gly32=)
c.525T>C (p.Gly175=)
 ClinVar dbSNP gnomAD v4
18g.31089544A>TCA503390431DSC2c.96T>A (p.Gly32=)
c.525T>A (p.Gly175=)
 ClinVar
18g.31089545C>ACA402113676DSC2c.95G>T (p.Gly32Val)
c.524G>T (p.Gly175Val)
18g.31089545C>GCA402113674DSC2c.95G>C (p.Gly32Ala)
c.524G>C (p.Gly175Ala)
18g.31089545C>TCA402113672DSC2c.95G>A (p.Gly32Asp)
c.524G>A (p.Gly175Asp)
 gnomAD v4
18g.31089546C>ACA402113678DSC2c.94G>T (p.Gly32Cys)
c.523G>T (p.Gly175Cys)
18g.31089546C>GCA402113679DSC2c.94G>C (p.Gly32Arg)
c.523G>C (p.Gly175Arg)
18g.31089546C>TCA402113682DSC2c.94G>A (p.Gly32Ser)
c.523G>A (p.Gly175Ser)
 ClinVar gnomAD v4
18g.31089547T>ACA402113684DSC2c.93A>T (p.Arg31Ser)
c.522A>T (p.Arg174Ser)
18g.31089547T>CCA503390441DSC2c.93A>G (p.Arg31=)
c.522A>G (p.Arg174=)
 gnomAD v4
18g.31089547T>GCA402113686DSC2c.93A>C (p.Arg31Ser)
c.522A>C (p.Arg174Ser)
18g.31089548C>ACA402113688DSC2c.92G>T (p.Arg31Ile)
c.521G>T (p.Arg174Ile)
18g.31089548C>GCA402113690DSC2c.92G>C (p.Arg31Thr)
c.521G>C (p.Arg174Thr)
 ClinVar
18g.31089548C>TCA402113692DSC2c.92G>A (p.Arg31Lys)
c.521G>A (p.Arg174Lys)
 dbSNP
18g.31089549T>ACA402113694DSC2c.91A>T (p.Arg31Ter)
c.520A>T (p.Arg174Ter)
18g.31089549T>CCA402113696DSC2c.91A>G (p.Arg31Gly)
c.520A>G (p.Arg174Gly)
18g.31089549T>GCA503390450DSC2c.91A>C (p.Arg31=)
c.520A>C (p.Arg174=)
18g.31089550T>ACA503390452DSC2c.90A>T (p.Ile30=)
c.519A>T (p.Ile173=)
18g.31089550T>CCA402113698DSC2c.90A>G (p.Ile30Met)
c.519A>G (p.Ile173Met)
 dbSNP gnomAD v4
18g.31089550T>GCA503390455DSC2c.90A>C (p.Ile30=)
c.519A>C (p.Ile173=)
18g.31089550T=CA2293654967DSC2c.90A= (p.Ile30=)
c.519A= (p.Ile173=)
18g.31089555_31089566delCA2641389091DSC2c.79_90del (p.Tyr27_Ile30del)
c.508_519del (p.Tyr170_Ile173del)
 gnomAD v4
18g.31089551A>CCA402113701DSC2c.89T>G (p.Ile30Arg)
c.518T>G (p.Ile173Arg)
18g.31089551A>GCA402113703DSC2c.89T>C (p.Ile30Thr)
c.518T>C (p.Ile173Thr)
18g.31089551A>TCA402113704DSC2c.89T>A (p.Ile30Lys)
c.518T>A (p.Ile173Lys)
18g.31089552T>ACA038756DSC2c.88A>T (p.Ile30Leu)
c.517A>T (p.Ile173Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089552T>CCA402113708DSC2c.88A>G (p.Ile30Val)
c.517A>G (p.Ile173Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31089552T>GCA402113706DSC2c.88A>C (p.Ile30Leu)
c.517A>C (p.Ile173Leu)
18g.31089552T=CA2293654968DSC2c.88A= (p.Ile30=)
c.517A= (p.Ile173=)
18g.31089553G>ACA503390465DSC2c.87C>T (p.Ser29=)
c.516C>T (p.Ser172=)
18g.31089553G>CCA503390466DSC2c.87C>G (p.Ser29=)
c.516C>G (p.Ser172=)
18g.31089553G>TCA503390468DSC2c.87C>A (p.Ser29=)
c.516C>A (p.Ser172=)
18g.31089554G>ACA038745DSC2c.86C>T (p.Ser29Phe)
c.515C>T (p.Ser172Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089554G>CCA402113710DSC2c.86C>G (p.Ser29Cys)
c.515C>G (p.Ser172Cys)
18g.31089554G=CA2293654969DSC2c.86C= (p.Ser29=)
c.515C= (p.Ser172=)
18g.31089554G>TCA402113712DSC2c.86C>A (p.Ser29Tyr)
c.515C>A (p.Ser172Tyr)
18g.31089555A>CCA402113714DSC2c.85T>G (p.Ser29Ala)
c.514T>G (p.Ser172Ala)
18g.31089555A>GCA402113715DSC2c.85T>C (p.Ser29Pro)
c.514T>C (p.Ser172Pro)
18g.31089555A>TCA402113717DSC2c.85T>A (p.Ser29Thr)
c.514T>A (p.Ser172Thr)
18g.31089556A>CCA402113719DSC2c.84T>G (p.Tyr28Ter)
c.513T>G (p.Tyr171Ter)
18g.31089556A>GCA503390476DSC2c.84T>C (p.Tyr28=)
c.513T>C (p.Tyr171=)
 dbSNP
18g.31089556A>TCA402113722DSC2c.84T>A (p.Tyr28Ter)
c.513T>A (p.Tyr171Ter)
18g.31089557T>ACA402113724DSC2c.83A>T (p.Tyr28Phe)
c.512A>T (p.Tyr171Phe)
18g.31089557T>CCA402113726DSC2c.83A>G (p.Tyr28Cys)
c.512A>G (p.Tyr171Cys)
18g.31089557T>GCA402113728DSC2c.83A>C (p.Tyr28Ser)
c.512A>C (p.Tyr171Ser)
18g.31089558A>CCA402113730DSC2c.82T>G (p.Tyr28Asp)
c.511T>G (p.Tyr171Asp)
 gnomAD v4
18g.31089558A>GCA402113731DSC2c.82T>C (p.Tyr28His)
c.511T>C (p.Tyr171His)
18g.31089558A>TCA402113732DSC2c.82T>A (p.Tyr28Asn)
c.511T>A (p.Tyr171Asn)
18g.31089559G>ACA503390489DSC2c.81C>T (p.Tyr27=)
c.510C>T (p.Tyr170=)
18g.31089559G>CCA402113735DSC2c.81C>G (p.Tyr27Ter)
c.510C>G (p.Tyr170Ter)
18g.31089559G>TCA402113733DSC2c.81C>A (p.Tyr27Ter)
c.510C>A (p.Tyr170Ter)
18g.31089560T>ACA402113738DSC2c.80A>T (p.Tyr27Phe)
c.509A>T (p.Tyr170Phe)
18g.31089560T>CCA038736DSC2c.80A>G (p.Tyr27Cys)
c.509A>G (p.Tyr170Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089560T>GCA402113741DSC2c.80A>C (p.Tyr27Ser)
c.509A>C (p.Tyr170Ser)
18g.31089560T=CA2293654970DSC2c.80A= (p.Tyr27=)
c.509A= (p.Tyr170=)
18g.31089561A=CA2293654971DSC2c.79T= (p.Tyr27=)
c.508T= (p.Tyr170=)
18g.31089561A>CCA402113743DSC2c.79T>G (p.Tyr27Asp)
c.508T>G (p.Tyr170Asp)
18g.31089561A>GCA402113745DSC2c.79T>C (p.Tyr27His)
c.508T>C (p.Tyr170His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31089561A>TCA402113747DSC2c.79T>A (p.Tyr27Asn)
c.508T>A (p.Tyr170Asn)
18g.31089562T>ACA503390500DSC2c.78A>T (p.Ile26=)
c.507A>T (p.Ile169=)
18g.31089562T>CCA402113749DSC2c.78A>G (p.Ile26Met)
c.507A>G (p.Ile169Met)
18g.31089562T>GCA503390502DSC2c.78A>C (p.Ile26=)
c.507A>C (p.Ile169=)

Number of alleles fetched