Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154928537G>TCA2695168802F8c.5219+34C>A (n.5219+34C>A)
c.5114+34C>A (n.5114+34C>A)
 gnomAD v4
Xg.154928539G>ACA2466835713F8c.5219+32C>T (n.5219+32C>T)
c.5114+32C>T (n.5114+32C>T)
 dbSNP gnomAD v4
Xg.154928539G=CA2466835712F8c.5219+32C= (n.5219+32C=)
c.5114+32C= (n.5114+32C=)
Xg.154928539G>TCA2695168803F8c.5219+32C>A (n.5219+32C>A)
c.5114+32C>A (n.5114+32C>A)
 gnomAD v4
Xg.154928540C>TCA2695168804F8c.5219+31G>A (n.5219+31G>A)
c.5114+31G>A (n.5114+31G>A)
 gnomAD v4
Xg.154928542G>ACA2824302213F8c.5219+29C>T (n.5219+29C>T)
c.5114+29C>T (n.5114+29C>T)
Xg.154928542G>CCA2695168805F8c.5219+29C>G (n.5219+29C>G)
c.5114+29C>G (n.5114+29C>G)
 gnomAD v4
Xg.154928542G=CA2466835714F8c.5219+29C= (n.5219+29C=)
c.5114+29C= (n.5114+29C=)
Xg.154928542G>TCA2466835715F8c.5219+29C>A (n.5219+29C>A)
c.5114+29C>A (n.5114+29C>A)
 dbSNP
Xg.154928544G>ACA645253460F8c.5219+27C>T (n.5219+27C>T)
c.5114+27C>T (n.5114+27C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.154928544G=CA2466835716F8c.5219+27C= (n.5219+27C=)
c.5114+27C= (n.5114+27C=)
Xg.154928544G>TCA2466835717F8c.5219+27C>A (n.5219+27C>A)
c.5114+27C>A (n.5114+27C>A)
 dbSNP gnomAD v4
Xg.154928545C>ACA2466835718F8c.5219+26G>T (n.5219+26G>T)
c.5114+26G>T (n.5114+26G>T)
 dbSNP gnomAD v4
Xg.154928545C=CA2466835719F8c.5219+26G= (n.5219+26G=)
c.5114+26G= (n.5114+26G=)
Xg.154928549G>CCA2695168806F8c.5219+22C>G (n.5219+22C>G)
c.5114+22C>G (n.5114+22C>G)
 gnomAD v4
Xg.154928550_154928551delinsGACA2466835721F8c.5219+20_5219+21delinsTC (n.5219+20_5219+21delinsTC)
c.5114+20_5114+21delinsTC (n.5114+20_5114+21delinsTC)
Xg.154928550_154928558delinsGAATAACCACA2466835720F8c.5219+13_5219+21delinsTGGTTATTC (n.5219+13_5219+21delinsTGGTTATTC)
c.5114+13_5114+21delinsTGGTTATTC (n.5114+13_5114+21delinsTGGTTATTC)
Xg.154928552delCA337326944F8c.5219+20del (n.5219+20del)
c.5114+20del (n.5114+20del)
 dbSNP gnomAD v2 gnomAD v4
Xg.154928552_154928559delCA10568025F8c.5219+13_5219+20del (n.5219+13_5219+20del)
c.5114+13_5114+20del (n.5114+13_5114+20del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928556C=CA2466835722F8c.5219+15G= (n.5219+15G=)
c.5114+15G= (n.5114+15G=)
Xg.154928556C>TCA2466835723F8c.5219+15G>A (n.5219+15G>A)
c.5114+15G>A (n.5114+15G>A)
 dbSNP
Xg.154928559A=CA2466835724F8c.5219+12T= (n.5219+12T=)
c.5114+12T= (n.5114+12T=)
Xg.154928559A>GCA10568026F8c.5219+12T>C (n.5219+12T>C)
c.5114+12T>C (n.5114+12T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928561G>TCA2695168807F8c.5219+10C>A (n.5219+10C>A)
c.5114+10C>A (n.5114+10C>A)
 gnomAD v4
Xg.154928562C>ACA2579744611F8c.5219+9G>T (n.5219+9G>T)
c.5114+9G>T (n.5114+9G>T)
Xg.154928562C=CA2466835725F8c.5219+9G= (n.5219+9G=)
c.5114+9G= (n.5114+9G=)
Xg.154928562C>TCA645253466F8c.5219+9G>A (n.5219+9G>A)
c.5114+9G>A (n.5114+9G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.154928568T>CCA873340051F8c.5219+3A>G (n.5219+3A>G)
c.5114+3A>G (n.5114+3A>G)
 dbSNP
Xg.154928568T>GCA2695237873F8c.5219+3A>C (n.5219+3A>C)
c.5114+3A>C (n.5114+3A>C)
Xg.154928568T=CA2466835726F8c.5219+3A= (n.5219+3A=)
c.5114+3A= (n.5114+3A=)
Xg.154928569A=CA2466835727F8c.5219+2T= (n.5219+2T=)
c.5114+2T= (n.5114+2T=)
Xg.154928569A>CCA414913412F8c.5219+2T>G (n.5219+2T>G)
c.5114+2T>G (n.5114+2T>G)
Xg.154928569A>GCA414913416F8c.5219+2T>C (n.5219+2T>C)
c.5114+2T>C (n.5114+2T>C)
 ClinVar dbSNP
Xg.154928569A>TCA414913414F8c.5219+2T>A (n.5219+2T>A)
c.5114+2T>A (n.5114+2T>A)
Xg.154928570C>ACA414913418F8c.5219+1G>T (n.5219+1G>T)
c.5114+1G>T (n.5114+1G>T)
Xg.154928570C=CA2466835728F8c.5219+1G= (n.5219+1G=)
c.5114+1G= (n.5114+1G=)
Xg.154928570C>GCA414913422F8c.5219+1G>C (n.5219+1G>C)
c.5114+1G>C (n.5114+1G>C)
Xg.154928570C>TCA414913420F8c.5219+1G>A (n.5219+1G>A)
c.5114+1G>A (n.5114+1G>A)
 ClinVar dbSNP
Xg.154928571C>ACA414913424F8c.5219G>T (p.Arg1740Met)
c.5114G>T (p.Arg1705Met)
 ClinVar dbSNP
Xg.154928571C=CA2466835729F8c.5219G= (p.Arg1740=)
c.5114G= (p.Arg1705=)
Xg.154928571C>GCA414913427F8c.5219G>C (p.Arg1740Thr)
c.5114G>C (p.Arg1705Thr)
Xg.154928571C>TCA414913426F8c.5219G>A (p.Arg1740Lys)
c.5114G>A (p.Arg1705Lys)
Xg.154928572T>ACA414913429F8c.5218A>T (p.Arg1740Trp)
c.5113A>T (p.Arg1705Trp)
Xg.154928572T>CCA414913430F8c.5218A>G (p.Arg1740Gly)
c.5113A>G (p.Arg1705Gly)
 ClinVar
Xg.154928572T>GCA519374732F8c.5218A>C (p.Arg1740=)
c.5113A>C (p.Arg1705=)
Xg.154928573G>ACA519374734F8c.5217C>T (p.Asn1739=)
c.5112C>T (p.Asn1704=)
 ClinVar dbSNP gnomAD v4
Xg.154928573G>CCA414913431F8c.5217C>G (p.Asn1739Lys)
c.5112C>G (p.Asn1704Lys)
Xg.154928573G=CA2466835730F8c.5217C= (p.Asn1739=)
c.5112C= (p.Asn1704=)
Xg.154928573G>TCA414913433F8c.5217C>A (p.Asn1739Lys)
c.5112C>A (p.Asn1704Lys)
Xg.154928574T>ACA414913435F8c.5216A>T (p.Asn1739Ile)
c.5111A>T (p.Asn1704Ile)
Xg.154928574T>CCA414913436F8c.5216A>G (p.Asn1739Ser)
c.5111A>G (p.Asn1704Ser)
Xg.154928574T>GCA414913438F8c.5216A>C (p.Asn1739Thr)
c.5111A>C (p.Asn1704Thr)
Xg.154928576_154928579delCA2695237880F8c.5213_5216del (p.Arg1738ThrfsTer?)
c.5108_5111del (p.Arg1703ThrfsTer?)
Xg.154928575T>ACA414913440F8c.5215A>T (p.Asn1739Tyr)
c.5110A>T (p.Asn1704Tyr)
Xg.154928575T>CCA414913442F8c.5215A>G (p.Asn1739Asp)
c.5110A>G (p.Asn1704Asp)
Xg.154928575T>GCA414913444F8c.5215A>C (p.Asn1739His)
c.5110A>C (p.Asn1704His)
Xg.154928576T>ACA414913448F8c.5214A>T (p.Arg1738Ser)
c.5109A>T (p.Arg1703Ser)
Xg.154928576T>CCA519374735F8c.5214A>G (p.Arg1738=)
c.5109A>G (p.Arg1703=)
Xg.154928576T>GCA414913447F8c.5214A>C (p.Arg1738Ser)
c.5109A>C (p.Arg1703Ser)
Xg.154928577delCA1139532038F8c.5213del (p.Arg1738LysfsTer?)
c.5108del (p.Arg1703LysfsTer?)
Xg.154928577C>ACA414913450F8c.5213G>T (p.Arg1738Ile)
c.5108G>T (p.Arg1703Ile)
Xg.154928577C>GCA414913452F8c.5213G>C (p.Arg1738Thr)
c.5108G>C (p.Arg1703Thr)
Xg.154928577C>TCA414913454F8c.5213G>A (p.Arg1738Lys)
c.5108G>A (p.Arg1703Lys)
 COSMIC COSMIC
Xg.154928577_154928578delinsCTCA2466835731F8c.5212_5213delinsAG (p.Arg1738=)
c.5107_5108delinsAG (p.Arg1703=)
Xg.154928578T>ACA414913456F8c.5212A>T (p.Arg1738Ter)
c.5107A>T (p.Arg1703Ter)
Xg.154928578T>CCA414913458F8c.5212A>G (p.Arg1738Gly)
c.5107A>G (p.Arg1703Gly)
Xg.154928578T>GCA519374736F8c.5212A>C (p.Arg1738=)
c.5107A>C (p.Arg1703=)
Xg.154928579delCA2466835732F8c.5212del (p.Arg1738GlufsTer?)
c.5107del (p.Arg1703GlufsTer?)
 dbSNP
Xg.154928579T>ACA519374737F8c.5211A>T (p.Leu1737=)
c.5106A>T (p.Leu1702=)
Xg.154928579T>CCA519374738F8c.5211A>G (p.Leu1737=)
c.5106A>G (p.Leu1702=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154928579T>GCA519374739F8c.5211A>C (p.Leu1737=)
c.5106A>C (p.Leu1702=)
Xg.154928579T=CA2466835733F8c.5211A= (p.Leu1737=)
c.5106A= (p.Leu1702=)
Xg.154928580A>CCA414913460F8c.5210T>G (p.Leu1737Arg)
c.5105T>G (p.Leu1702Arg)
Xg.154928580A>GCA414913462F8c.5210T>C (p.Leu1737Pro)
c.5105T>C (p.Leu1702Pro)
Xg.154928580A>TCA414913464F8c.5210T>A (p.Leu1737Gln)
c.5105T>A (p.Leu1702Gln)
Xg.154928581G>ACA519374740F8c.5209C>T (p.Leu1737=)
c.5104C>T (p.Leu1702=)
 COSMIC COSMIC
Xg.154928581G>CCA414913466F8c.5209C>G (p.Leu1737Val)
c.5104C>G (p.Leu1702Val)
Xg.154928581G>TCA414913467F8c.5209C>A (p.Leu1737Ile)
c.5104C>A (p.Leu1702Ile)
Xg.154928582A>CCA519374743F8c.5208T>G (p.Val1736=)
c.5103T>G (p.Val1701=)
Xg.154928582A>GCA519374742F8c.5208T>C (p.Val1736=)
c.5103T>C (p.Val1701=)
 gnomAD v4
Xg.154928582A>TCA519374741F8c.5208T>A (p.Val1736=)
c.5103T>A (p.Val1701=)
Xg.154928583A>CCA414913471F8c.5207T>G (p.Val1736Gly)
c.5102T>G (p.Val1701Gly)
Xg.154928583A>GCA414913473F8c.5207T>C (p.Val1736Ala)
c.5102T>C (p.Val1701Ala)
Xg.154928583A>TCA414913470F8c.5207T>A (p.Val1736Asp)
c.5102T>A (p.Val1701Asp)
Xg.154928584C>ACA414913475F8c.5206G>T (p.Val1736Phe)
c.5101G>T (p.Val1701Phe)
Xg.154928584C=CA2466835734F8c.5206G= (p.Val1736=)
c.5101G= (p.Val1701=)
Xg.154928584C>GCA414913477F8c.5206G>C (p.Val1736Leu)
c.5101G>C (p.Val1701Leu)
Xg.154928584C>TCA10568027F8c.5206G>A (p.Val1736Ile)
c.5101G>A (p.Val1701Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928585A>CCA414913478F8c.5205T>G (p.His1735Gln)
c.5100T>G (p.His1700Gln)
Xg.154928585A>GCA519374744F8c.5205T>C (p.His1735=)
c.5100T>C (p.His1700=)
 gnomAD v4
Xg.154928585A>TCA414913480F8c.5205T>A (p.His1735Gln)
c.5100T>A (p.His1700Gln)
Xg.154928586T>ACA414913482F8c.5204A>T (p.His1735Leu)
c.5099A>T (p.His1700Leu)
Xg.154928586T>CCA414913484F8c.5204A>G (p.His1735Arg)
c.5099A>G (p.His1700Arg)
 gnomAD v4
Xg.154928586T>GCA414913486F8c.5204A>C (p.His1735Pro)
c.5099A>C (p.His1700Pro)
Xg.154928587G>ACA414913487F8c.5203C>T (p.His1735Tyr)
c.5098C>T (p.His1700Tyr)
Xg.154928587G>CCA414913489F8c.5203C>G (p.His1735Asp)
c.5098C>G (p.His1700Asp)
Xg.154928587G>TCA414913491F8c.5203C>A (p.His1735Asn)
c.5098C>A (p.His1700Asn)
Xg.154928588T>ACA519374745F8c.5202A>T (p.Pro1734=)
c.5097A>T (p.Pro1699=)
Xg.154928588T>CCA519374747F8c.5202A>G (p.Pro1734=)
c.5097A>G (p.Pro1699=)
Xg.154928588T>GCA519374746F8c.5202A>C (p.Pro1734=)
c.5097A>C (p.Pro1699=)
Xg.154928588T=CA2466835735F8c.5202A= (p.Pro1734=)
c.5097A= (p.Pro1699=)
Xg.154928589G>ACA414913495F8c.5201C>T (p.Pro1734Leu)
c.5096C>T (p.Pro1699Leu)
Xg.154928589G>CCA414913493F8c.5201C>G (p.Pro1734Arg)
c.5096C>G (p.Pro1699Arg)
Xg.154928589G=CA2466835736F8c.5201C= (p.Pro1734=)
c.5096C= (p.Pro1699=)
Xg.154928589G>TCA10568028F8c.5201C>A (p.Pro1734Gln)
c.5096C>A (p.Pro1699Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928592dupCA873340070F8c.5201dup (p.His1735ThrfsTer25)
c.5096dup (p.His1700ThrfsTer25)
 dbSNP
Xg.154928590G>ACA10568029F8c.5200C>T (p.Pro1734Ser)
c.5095C>T (p.Pro1699Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928590G>CCA414913499F8c.5200C>G (p.Pro1734Ala)
c.5095C>G (p.Pro1699Ala)
Xg.154928590G=CA2466835737F8c.5200C= (p.Pro1734=)
c.5095C= (p.Pro1699=)
Xg.154928590G>TCA414913501F8c.5200C>A (p.Pro1734Thr)
c.5095C>A (p.Pro1699Thr)
Xg.154928591G>ACA519718337F8c.5199C>T (p.Ser1733=)
c.5094C>T (p.Ser1698=)
 gnomAD v4
Xg.154928591G>CCA519718338F8c.5199C>G (p.Ser1733=)
c.5094C>G (p.Ser1698=)
Xg.154928591G>TCA519718339F8c.5199C>A (p.Ser1733=)
c.5094C>A (p.Ser1698=)
Xg.154928592G>ACA414913503F8c.5198C>T (p.Ser1733Phe)
c.5093C>T (p.Ser1698Phe)
Xg.154928592G>CCA414913505F8c.5198C>G (p.Ser1733Cys)
c.5093C>G (p.Ser1698Cys)
Xg.154928592G>TCA414913506F8c.5198C>A (p.Ser1733Tyr)
c.5093C>A (p.Ser1698Tyr)
 gnomAD v4
Xg.154928593A>CCA414913508F8c.5197T>G (p.Ser1733Ala)
c.5092T>G (p.Ser1698Ala)
Xg.154928593A>GCA414913510F8c.5197T>C (p.Ser1733Pro)
c.5092T>C (p.Ser1698Pro)
Xg.154928593A>TCA414913511F8c.5197T>A (p.Ser1733Thr)
c.5092T>A (p.Ser1698Thr)
Xg.154928594G>ACA519718340F8c.5196C>T (p.Ser1732=)
c.5091C>T (p.Ser1697=)
 gnomAD v4
Xg.154928594G>CCA414913513F8c.5196C>G (p.Ser1732Arg)
c.5091C>G (p.Ser1697Arg)
 gnomAD v4
Xg.154928594G>TCA414913514F8c.5196C>A (p.Ser1732Arg)
c.5091C>A (p.Ser1697Arg)
 gnomAD v4
Xg.154928595C>ACA414913518F8c.5195G>T (p.Ser1732Ile)
c.5090G>T (p.Ser1697Ile)
Xg.154928595C=CA2466835738F8c.5195G= (p.Ser1732=)
c.5090G= (p.Ser1697=)
Xg.154928595C>GCA10568030F8c.5195G>C (p.Ser1732Thr)
c.5090G>C (p.Ser1697Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928595C>TCA414913515F8c.5195G>A (p.Ser1732Asn)
c.5090G>A (p.Ser1697Asn)
 gnomAD v4
Xg.154928596T>ACA414913520F8c.5194A>T (p.Ser1732Cys)
c.5089A>T (p.Ser1697Cys)
Xg.154928596T>CCA414913524F8c.5194A>G (p.Ser1732Gly)
c.5089A>G (p.Ser1697Gly)
Xg.154928596T>GCA414913522F8c.5194A>C (p.Ser1732Arg)
c.5089A>C (p.Ser1697Arg)
Xg.154928597A>CCA414913526F8c.5193T>G (p.Ser1731Arg)
c.5088T>G (p.Ser1696Arg)
Xg.154928597A>GCA519718341F8c.5193T>C (p.Ser1731=)
c.5088T>C (p.Ser1696=)
Xg.154928597A>TCA414913528F8c.5193T>A (p.Ser1731Arg)
c.5088T>A (p.Ser1696Arg)
Xg.154928598C>ACA414913529F8c.5192G>T (p.Ser1731Ile)
c.5087G>T (p.Ser1696Ile)
Xg.154928598C>GCA414913530F8c.5192G>C (p.Ser1731Thr)
c.5087G>C (p.Ser1696Thr)
Xg.154928598C>TCA414913531F8c.5192G>A (p.Ser1731Asn)
c.5087G>A (p.Ser1696Asn)
 COSMIC COSMIC
Xg.154928599T>ACA414913533F8c.5191A>T (p.Ser1731Cys)
c.5086A>T (p.Ser1696Cys)
Xg.154928599T>CCA414913535F8c.5191A>G (p.Ser1731Gly)
c.5086A>G (p.Ser1696Gly)
Xg.154928599T>GCA414913537F8c.5191A>C (p.Ser1731Arg)
c.5086A>C (p.Ser1696Arg)
Xg.154928600C>ACA10568031F8c.5190G>T (p.Met1730Ile)
c.5085G>T (p.Met1695Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928600C=CA2466835739F8c.5190G= (p.Met1730=)
c.5085G= (p.Met1695=)
Xg.154928600C>GCA414913539F8c.5190G>C (p.Met1730Ile)
c.5085G>C (p.Met1695Ile)
Xg.154928600C>TCA414913540F8c.5190G>A (p.Met1730Ile)
c.5085G>A (p.Met1695Ile)
Xg.154928601A>CCA414913543F8c.5189T>G (p.Met1730Arg)
c.5084T>G (p.Met1695Arg)
Xg.154928601A>GCA414913545F8c.5189T>C (p.Met1730Thr)
c.5084T>C (p.Met1695Thr)
Xg.154928601A>TCA414913544F8c.5189T>A (p.Met1730Lys)
c.5084T>A (p.Met1695Lys)
Xg.154928602T>ACA10568032F8c.5188A>T (p.Met1730Leu)
c.5083A>T (p.Met1695Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928602T>CCA414913548F8c.5188A>G (p.Met1730Val)
c.5083A>G (p.Met1695Val)
 dbSNP
Xg.154928602T>GCA414913549F8c.5188A>C (p.Met1730Leu)
c.5083A>C (p.Met1695Leu)
Xg.154928602T=CA2466835740F8c.5188A= (p.Met1730=)
c.5083A= (p.Met1695=)
Xg.154928603C>ACA519718342F8c.5187G>T (p.Gly1729=)
c.5082G>T (p.Gly1694=)
Xg.154928603C>GCA519718343F8c.5187G>C (p.Gly1729=)
c.5082G>C (p.Gly1694=)
 gnomAD v4
Xg.154928603C>TCA519718344F8c.5187G>A (p.Gly1729=)
c.5082G>A (p.Gly1694=)
Xg.154928605delCA2695237883F8c.5187del (p.Met1730Ter)
c.5082del (p.Met1695Ter)
Xg.154928604C>ACA414913552F8c.5186G>T (p.Gly1729Val)
c.5081G>T (p.Gly1694Val)
Xg.154928604C=CA2466835741F8c.5186G= (p.Gly1729=)
c.5081G= (p.Gly1694=)
Xg.154928604C>GCA414913554F8c.5186G>C (p.Gly1729Ala)
c.5081G>C (p.Gly1694Ala)
Xg.154928604C>TCA414913556F8c.5186G>A (p.Gly1729Glu)
c.5081G>A (p.Gly1694Glu)
 ClinVar dbSNP
Xg.154928605C>ACA414913558F8c.5185G>T (p.Gly1729Trp)
c.5080G>T (p.Gly1694Trp)
 dbSNP
Xg.154928605C=CA2466835742F8c.5185G= (p.Gly1729=)
c.5080G= (p.Gly1694=)
Xg.154928605C>GCA414913560F8c.5185G>C (p.Gly1729Arg)
c.5080G>C (p.Gly1694Arg)
Xg.154928605C>TCA414913562F8c.5185G>A (p.Gly1729Arg)
c.5080G>A (p.Gly1694Arg)
Xg.154928606A>CCA414913566F8c.5184T>G (p.Tyr1728Ter)
c.5079T>G (p.Tyr1693Ter)
Xg.154928606A>GCA519718345F8c.5184T>C (p.Tyr1728=)
c.5079T>C (p.Tyr1693=)
 gnomAD v4
Xg.154928606A>TCA414913565F8c.5184T>A (p.Tyr1728Ter)
c.5079T>A (p.Tyr1693Ter)
Xg.154928607T>ACA414913568F8c.5183A>T (p.Tyr1728Phe)
c.5078A>T (p.Tyr1693Phe)
Xg.154928607T>CCA255023F8c.5183A>G (p.Tyr1728Cys)
c.5078A>G (p.Tyr1693Cys)
 ClinVar dbSNP
Xg.154928607T>GCA414913571F8c.5183A>C (p.Tyr1728Ser)
c.5078A>C (p.Tyr1693Ser)
Xg.154928607T=CA2466835743F8c.5183A= (p.Tyr1728=)
c.5078A= (p.Tyr1693=)
Xg.154928608A>CCA414913573F8c.5182T>G (p.Tyr1728Asp)
c.5077T>G (p.Tyr1693Asp)
Xg.154928608A>GCA414913575F8c.5182T>C (p.Tyr1728His)
c.5077T>C (p.Tyr1693His)
Xg.154928608A>TCA414913577F8c.5182T>A (p.Tyr1728Asn)
c.5077T>A (p.Tyr1693Asn)
Xg.154928609A>CCA414913579F8c.5181T>G (p.Asp1727Glu)
c.5076T>G (p.Asp1692Glu)
Xg.154928609A>GCA519718346F8c.5181T>C (p.Asp1727=)
c.5076T>C (p.Asp1692=)
Xg.154928609A>TCA414913584F8c.5181T>A (p.Asp1727Glu)
c.5076T>A (p.Asp1692Glu)
Xg.154928610T>ACA414913587F8c.5180A>T (p.Asp1727Val)
c.5075A>T (p.Asp1692Val)
Xg.154928610T>CCA414913592F8c.5180A>G (p.Asp1727Gly)
c.5075A>G (p.Asp1692Gly)
Xg.154928610T>GCA414913593F8c.5180A>C (p.Asp1727Ala)
c.5075A>C (p.Asp1692Ala)
Xg.154928611C>ACA414913598F8c.5179G>T (p.Asp1727Tyr)
c.5074G>T (p.Asp1692Tyr)
Xg.154928611C>GCA414913596F8c.5179G>C (p.Asp1727His)
c.5074G>C (p.Asp1692His)
Xg.154928611C>TCA414913595F8c.5179G>A (p.Asp1727Asn)
c.5074G>A (p.Asp1692Asn)
Xg.154928612C>ACA414913600F8c.5178G>T (p.Trp1726Cys)
c.5073G>T (p.Trp1691Cys)
 dbSNP
Xg.154928612C=CA2466835744F8c.5178G= (p.Trp1726=)
c.5073G= (p.Trp1691=)
Xg.154928612C>GCA414913602F8c.5178G>C (p.Trp1726Cys)
c.5073G>C (p.Trp1691Cys)
Xg.154928612C>TCA414913603F8c.5178G>A (p.Trp1726Ter)
c.5073G>A (p.Trp1691Ter)
Xg.154928613C>ACA414913604F8c.5177G>T (p.Trp1726Leu)
c.5072G>T (p.Trp1691Leu)
Xg.154928613C>GCA414913605F8c.5177G>C (p.Trp1726Ser)
c.5072G>C (p.Trp1691Ser)
Xg.154928613C>TCA414913606F8c.5177G>A (p.Trp1726Ter)
c.5072G>A (p.Trp1691Ter)
Xg.154928614A>CCA414913608F8c.5176T>G (p.Trp1726Gly)
c.5071T>G (p.Trp1691Gly)
Xg.154928614A>GCA414913610F8c.5176T>C (p.Trp1726Arg)
c.5071T>C (p.Trp1691Arg)
Xg.154928614A>TCA414913615F8c.5176T>A (p.Trp1726Arg)
c.5071T>A (p.Trp1691Arg)
Xg.154928615G>ACA519718349F8c.5175C>T (p.Leu1725=)
c.5070C>T (p.Leu1690=)
Xg.154928615G>CCA519718348F8c.5175C>G (p.Leu1725=)
c.5070C>G (p.Leu1690=)
Xg.154928615G>TCA519718347F8c.5175C>A (p.Leu1725=)
c.5070C>A (p.Leu1690=)
 gnomAD v4
Xg.154928616A>CCA414913618F8c.5174T>G (p.Leu1725Arg)
c.5069T>G (p.Leu1690Arg)
Xg.154928616A>GCA414913620F8c.5174T>C (p.Leu1725Pro)
c.5069T>C (p.Leu1690Pro)
Xg.154928616A>TCA414913621F8c.5174T>A (p.Leu1725His)
c.5069T>A (p.Leu1690His)
Xg.154928617G>ACA414913622F8c.5173C>T (p.Leu1725Phe)
c.5068C>T (p.Leu1690Phe)
 dbSNP
Xg.154928617G>CCA414913624F8c.5173C>G (p.Leu1725Val)
c.5068C>G (p.Leu1690Val)
Xg.154928617G=CA2466835745F8c.5173C= (p.Leu1725=)
c.5068C= (p.Leu1690=)
Xg.154928617G>TCA414913623F8c.5173C>A (p.Leu1725Ile)
c.5068C>A (p.Leu1690Ile)
Xg.154928618C>ACA414913626F8c.5172G>T (p.Arg1724Ser)
c.5067G>T (p.Arg1689Ser)
Xg.154928618C>GCA414913627F8c.5172G>C (p.Arg1724Ser)
c.5067G>C (p.Arg1689Ser)
Xg.154928618C>TCA519718350F8c.5172G>A (p.Arg1724=)
c.5067G>A (p.Arg1689=)
Xg.154928619C>ACA414913628F8c.5171G>T (p.Arg1724Met)
c.5066G>T (p.Arg1689Met)
Xg.154928619C>GCA414913631F8c.5171G>C (p.Arg1724Thr)
c.5066G>C (p.Arg1689Thr)
Xg.154928619C>TCA414913630F8c.5171G>A (p.Arg1724Lys)
c.5066G>A (p.Arg1689Lys)
Xg.154928620T>ACA414913633F8c.5170A>T (p.Arg1724Trp)
c.5065A>T (p.Arg1689Trp)
Xg.154928620T>CCA414913635F8c.5170A>G (p.Arg1724Gly)
c.5065A>G (p.Arg1689Gly)
Xg.154928620T>GCA519718351F8c.5170A>C (p.Arg1724=)
c.5065A>C (p.Arg1689=)
Xg.154928621C>ACA414913638F8c.5169G>T (p.Glu1723Asp)
c.5064G>T (p.Glu1688Asp)
Xg.154928621C>GCA414913639F8c.5169G>C (p.Glu1723Asp)
c.5064G>C (p.Glu1688Asp)
Xg.154928621C>TCA519718352F8c.5169G>A (p.Glu1723=)
c.5064G>A (p.Glu1688=)
 gnomAD v4
Xg.154928622T>ACA414913640F8c.5168A>T (p.Glu1723Val)
c.5063A>T (p.Glu1688Val)
Xg.154928622T>CCA414913642F8c.5168A>G (p.Glu1723Gly)
c.5063A>G (p.Glu1688Gly)
Xg.154928622T>GCA414913643F8c.5168A>C (p.Glu1723Ala)
c.5063A>C (p.Glu1688Ala)
Xg.154928623C>ACA414913645F8c.5167G>T (p.Glu1723Ter)
c.5062G>T (p.Glu1688Ter)
 dbSNP
Xg.154928623C=CA2466835746F8c.5167G= (p.Glu1723=)
c.5062G= (p.Glu1688=)
Xg.154928623C>GCA414913646F8c.5167G>C (p.Glu1723Gln)
c.5062G>C (p.Glu1688Gln)
Xg.154928623C>TCA255040F8c.5167G>A (p.Glu1723Lys)
c.5062G>A (p.Glu1688Lys)
 ClinVar dbSNP COSMIC COSMIC
Xg.154928624C>ACA519718353F8c.5166G>T (p.Val1722=)
c.5061G>T (p.Val1687=)
Xg.154928624C>GCA519718354F8c.5166G>C (p.Val1722=)
c.5061G>C (p.Val1687=)
Xg.154928624C>TCA519718355F8c.5166G>A (p.Val1722=)
c.5061G>A (p.Val1687=)
Xg.154928625A=CA2466835747F8c.5165T= (p.Val1722=)
c.5060T= (p.Val1687=)
Xg.154928625A>CCA414913656F8c.5165T>G (p.Val1722Gly)
c.5060T>G (p.Val1687Gly)
Xg.154928625A>GCA414913654F8c.5165T>C (p.Val1722Ala)
c.5060T>C (p.Val1687Ala)
 dbSNP gnomAD v4
Xg.154928625A>TCA414913652F8c.5165T>A (p.Val1722Glu)
c.5060T>A (p.Val1687Glu)
Xg.154928626C>ACA414913662F8c.5164G>T (p.Val1722Leu)
c.5059G>T (p.Val1687Leu)
Xg.154928626C=CA2466835748F8c.5164G= (p.Val1722=)
c.5059G= (p.Val1687=)
Xg.154928626C>GCA414913664F8c.5164G>C (p.Val1722Leu)
c.5059G>C (p.Val1687Leu)
Xg.154928626C>TCA414913665F8c.5164G>A (p.Val1722Met)
c.5059G>A (p.Val1687Met)
 ClinVar dbSNP
Xg.154928627T>ACA519718356F8c.5163A>T (p.Ala1721=)
c.5058A>T (p.Ala1686=)
Xg.154928627T>CCA519718357F8c.5163A>G (p.Ala1721=)
c.5058A>G (p.Ala1686=)
Xg.154928627T>GCA519718358F8c.5163A>C (p.Ala1721=)
c.5058A>C (p.Ala1686=)
Xg.154928627dupCA2695237887F8c.5163dup (p.Val1722SerfsTer11)
c.5058dup (p.Val1687SerfsTer11)
Xg.154928628G>ACA414913667F8c.5162C>T (p.Ala1721Val)
c.5057C>T (p.Ala1686Val)
Xg.154928628G>CCA414913669F8c.5162C>G (p.Ala1721Gly)
c.5057C>G (p.Ala1686Gly)
Xg.154928628G>TCA414913671F8c.5162C>A (p.Ala1721Glu)
c.5057C>A (p.Ala1686Glu)
Xg.154928629C>ACA414913674F8c.5161G>T (p.Ala1721Ser)
c.5056G>T (p.Ala1686Ser)
Xg.154928629C>GCA414913675F8c.5161G>C (p.Ala1721Pro)
c.5056G>C (p.Ala1686Pro)
Xg.154928629C>TCA414913677F8c.5161G>A (p.Ala1721Thr)
c.5056G>A (p.Ala1686Thr)
Xg.154928630A>CCA519718361F8c.5160T>G (p.Ala1720=)
c.5055T>G (p.Ala1685=)
Xg.154928630A>GCA519718359F8c.5160T>C (p.Ala1720=)
c.5055T>C (p.Ala1685=)
 gnomAD v4
Xg.154928630A>TCA519718360F8c.5160T>A (p.Ala1720=)
c.5055T>A (p.Ala1685=)
Xg.154928631G>ACA414913679F8c.5159C>T (p.Ala1720Val)
c.5054C>T (p.Ala1685Val)
Xg.154928631G>CCA414913681F8c.5159C>G (p.Ala1720Gly)
c.5054C>G (p.Ala1685Gly)
Xg.154928631G>TCA414913682F8c.5159C>A (p.Ala1720Asp)
c.5054C>A (p.Ala1685Asp)
Xg.154928632C>ACA414913686F8c.5158G>T (p.Ala1720Ser)
c.5053G>T (p.Ala1685Ser)
 gnomAD v4
Xg.154928632C>GCA414913685F8c.5158G>C (p.Ala1720Pro)
c.5053G>C (p.Ala1685Pro)
Xg.154928632C>TCA414913684F8c.5158G>A (p.Ala1720Thr)
c.5053G>A (p.Ala1685Thr)
Xg.154928633A>CCA414913687F8c.5157T>G (p.Ile1719Met)
c.5052T>G (p.Ile1684Met)
Xg.154928633A>GCA519718362F8c.5157T>C (p.Ile1719=)
c.5052T>C (p.Ile1684=)
Xg.154928633A>TCA519718363F8c.5157T>A (p.Ile1719=)
c.5052T>A (p.Ile1684=)
Xg.154928637_154928641delCA2695237889F8c.5153_5157del (p.Phe1718CysfsTer13)
c.5048_5052del (p.Phe1683CysfsTer13)
Xg.154928634A>CCA414913688F8c.5156T>G (p.Ile1719Ser)
c.5051T>G (p.Ile1684Ser)
Xg.154928634A>GCA414913690F8c.5156T>C (p.Ile1719Thr)
c.5051T>C (p.Ile1684Thr)
Xg.154928634A>TCA414913692F8c.5156T>A (p.Ile1719Asn)
c.5051T>A (p.Ile1684Asn)
Xg.154928635T>ACA414913694F8c.5155A>T (p.Ile1719Phe)
c.5050A>T (p.Ile1684Phe)
Xg.154928635T>CCA414913695F8c.5155A>G (p.Ile1719Val)
c.5050A>G (p.Ile1684Val)
Xg.154928635T>GCA414913696F8c.5155A>C (p.Ile1719Leu)
c.5050A>C (p.Ile1684Leu)

Number of alleles fetched