Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47441683T>ACA474218158RAPSNc.840A>T (p.Gly280=)
c.789+140A>T (n.789+140A>T)
c.681A>T (p.Gly227=)
n.49A>T
11g.47441683T>CCA474218160RAPSNc.840A>G (p.Gly280=)
c.789+140A>G (n.789+140A>G)
c.681A>G (p.Gly227=)
n.49A>G
 gnomAD v4
11g.47441683T>GCA474218159RAPSNc.840A>C (p.Gly280=)
c.789+140A>C (n.789+140A>C)
c.681A>C (p.Gly227=)
n.49A>C
11g.47441684C>ACA380329453RAPSNc.839G>T (p.Gly280Val)
c.789+139G>T (n.789+139G>T)
c.680G>T (p.Gly227Val)
n.48G>T
 gnomAD v4
11g.47441684C>GCA380329433RAPSNc.839G>C (p.Gly280Ala)
c.789+139G>C (n.789+139G>C)
c.680G>C (p.Gly227Ala)
n.48G>C
11g.47441684C>TCA380329449RAPSNc.839G>A (p.Gly280Glu)
c.789+139G>A (n.789+139G>A)
c.680G>A (p.Gly227Glu)
n.48G>A
 COSMIC
11g.47441685C>ACA380329470RAPSNc.838G>T (p.Gly280Ter)
c.789+138G>T (n.789+138G>T)
c.679G>T (p.Gly227Ter)
n.47G>T
 ClinVar dbSNP gnomAD v4
11g.47441685C=CA1969387590RAPSNc.838G= (p.Gly280=)
c.789+138G= (n.789+138G=)
c.679G= (p.Gly227=)
n.47G=
11g.47441685C>GCA380329477RAPSNc.838G>C (p.Gly280Arg)
c.789+138G>C (n.789+138G>C)
c.679G>C (p.Gly227Arg)
n.47G>C
11g.47441685C>TCA380329479RAPSNc.838G>A (p.Gly280Arg)
c.789+138G>A (n.789+138G>A)
c.679G>A (p.Gly227Arg)
n.47G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441686G>ACA5976606RAPSNc.837C>T (p.Ile279=)
c.789+137C>T (n.789+137C>T)
c.678C>T (p.Ile226=)
n.46C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441686G>CCA5976607RAPSNc.837C>G (p.Ile279Met)
c.789+137C>G (n.789+137C>G)
c.678C>G (p.Ile226Met)
n.46C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441686G=CA1969387591RAPSNc.837C= (p.Ile279=)
c.789+137C= (n.789+137C=)
c.678C= (p.Ile226=)
n.46C=
11g.47441686G>TCA474218162RAPSNc.837C>A (p.Ile279=)
c.789+137C>A (n.789+137C>A)
c.678C>A (p.Ile226=)
n.46C>A
 dbSNP gnomAD v2 gnomAD v4
11g.47441687A>CCA380329504RAPSNc.836T>G (p.Ile279Ser)
c.789+136T>G (n.789+136T>G)
c.677T>G (p.Ile226Ser)
n.45T>G
11g.47441687A>GCA380329492RAPSNc.836T>C (p.Ile279Thr)
c.789+136T>C (n.789+136T>C)
c.677T>C (p.Ile226Thr)
n.45T>C
11g.47441687A>TCA380329501RAPSNc.836T>A (p.Ile279Asn)
c.789+136T>A (n.789+136T>A)
c.677T>A (p.Ile226Asn)
n.45T>A
11g.47441688T>ACA380329507RAPSNc.835A>T (p.Ile279Phe)
c.789+135A>T (n.789+135A>T)
c.676A>T (p.Ile226Phe)
n.44A>T
11g.47441688T>CCA380329539RAPSNc.835A>G (p.Ile279Val)
c.789+135A>G (n.789+135A>G)
c.676A>G (p.Ile226Val)
n.44A>G
 dbSNP gnomAD v2 gnomAD v4
11g.47441688T>GCA380329540RAPSNc.835A>C (p.Ile279Leu)
c.789+135A>C (n.789+135A>C)
c.676A>C (p.Ile226Leu)
n.44A>C
11g.47441688T=CA1969387592RAPSNc.835A= (p.Ile279=)
c.789+135A= (n.789+135A=)
c.676A= (p.Ile226=)
n.44A=
11g.47441689C>ACA380329541RAPSNc.834G>T (p.Glu278Asp)
c.789+134G>T (n.789+134G>T)
c.675G>T (p.Glu225Asp)
n.43G>T
11g.47441689C>GCA380329542RAPSNc.834G>C (p.Glu278Asp)
c.789+134G>C (n.789+134G>C)
c.675G>C (p.Glu225Asp)
n.43G>C
11g.47441689C>TCA474218166RAPSNc.834G>A (p.Glu278=)
c.789+134G>A (n.789+134G>A)
c.675G>A (p.Glu225=)
n.43G>A
 ClinVar
11g.47441690T>ACA380329545RAPSNc.833A>T (p.Glu278Val)
c.789+133A>T (n.789+133A>T)
c.674A>T (p.Glu225Val)
n.42A>T
11g.47441690T>CCA380329549RAPSNc.833A>G (p.Glu278Gly)
c.789+133A>G (n.789+133A>G)
c.674A>G (p.Glu225Gly)
n.42A>G
11g.47441690T>GCA380329552RAPSNc.833A>C (p.Glu278Ala)
c.789+133A>C (n.789+133A>C)
c.674A>C (p.Glu225Ala)
n.42A>C
11g.47441691C>ACA380329555RAPSNc.832G>T (p.Glu278Ter)
c.789+132G>T (n.789+132G>T)
c.673G>T (p.Glu225Ter)
n.41G>T
 gnomAD v4
11g.47441691C=CA1969387593RAPSNc.832G= (p.Glu278=)
c.789+132G= (n.789+132G=)
c.673G= (p.Glu225=)
n.41G=
11g.47441691C>GCA380329558RAPSNc.832G>C (p.Glu278Gln)
c.789+132G>C (n.789+132G>C)
c.673G>C (p.Glu225Gln)
n.41G>C
11g.47441691C>TCA380329559RAPSNc.832G>A (p.Glu278Lys)
c.789+132G>A (n.789+132G>A)
c.673G>A (p.Glu225Lys)
n.41G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.47441692G>ACA5976608RAPSNc.831C>T (p.Thr277=)
c.789+131C>T (n.789+131C>T)
c.672C>T (p.Thr224=)
n.40C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441692G>CCA474218170RAPSNc.831C>G (p.Thr277=)
c.789+131C>G (n.789+131C>G)
c.672C>G (p.Thr224=)
n.40C>G
 gnomAD v4
11g.47441692G=CA1969387594RAPSNc.831C= (p.Thr277=)
c.789+131C= (n.789+131C=)
c.672C= (p.Thr224=)
n.40C=
11g.47441692G>TCA474218171RAPSNc.831C>A (p.Thr277=)
c.789+131C>A (n.789+131C>A)
c.672C>A (p.Thr224=)
n.40C>A
 ClinVar dbSNP gnomAD v4
11g.47441693G>ACA380329566RAPSNc.830C>T (p.Thr277Ile)
c.789+130C>T (n.789+130C>T)
c.671C>T (p.Thr224Ile)
n.39C>T
11g.47441693G>CCA380329564RAPSNc.830C>G (p.Thr277Ser)
c.789+130C>G (n.789+130C>G)
c.671C>G (p.Thr224Ser)
n.39C>G
11g.47441693G>TCA380329562RAPSNc.830C>A (p.Thr277Asn)
c.789+130C>A (n.789+130C>A)
c.671C>A (p.Thr224Asn)
n.39C>A
 gnomAD v4
11g.47441694T>ACA380329574RAPSNc.829A>T (p.Thr277Ser)
c.789+129A>T (n.789+129A>T)
c.670A>T (p.Thr224Ser)
n.38A>T
11g.47441694T>CCA351331RAPSNc.829A>G (p.Thr277Ala)
c.789+129A>G (n.789+129A>G)
c.670A>G (p.Thr224Ala)
n.38A>G
 ClinVar dbSNP
11g.47441694T>GCA380329582RAPSNc.829A>C (p.Thr277Pro)
c.789+129A>C (n.789+129A>C)
c.670A>C (p.Thr224Pro)
n.38A>C
11g.47441694T=CA1969387595RAPSNc.829A= (p.Thr277=)
c.789+129A= (n.789+129A=)
c.670A= (p.Thr224=)
n.38A=
11g.47441695C>ACA380329584RAPSNc.828G>T (p.Met276Ile)
c.789+128G>T (n.789+128G>T)
c.669G>T (p.Met223Ile)
n.37G>T
 gnomAD v4
11g.47441695C>GCA380329585RAPSNc.828G>C (p.Met276Ile)
c.789+128G>C (n.789+128G>C)
c.669G>C (p.Met223Ile)
n.37G>C
11g.47441695C>TCA380329587RAPSNc.828G>A (p.Met276Ile)
c.789+128G>A (n.789+128G>A)
c.669G>A (p.Met223Ile)
n.37G>A
11g.47441696A>CCA380329591RAPSNc.827T>G (p.Met276Arg)
c.789+127T>G (n.789+127T>G)
c.668T>G (p.Met223Arg)
n.36T>G
11g.47441696A>GCA380329593RAPSNc.827T>C (p.Met276Thr)
c.789+127T>C (n.789+127T>C)
c.668T>C (p.Met223Thr)
n.36T>C
 gnomAD v4
11g.47441696A>TCA380329602RAPSNc.827T>A (p.Met276Lys)
c.789+127T>A (n.789+127T>A)
c.668T>A (p.Met223Lys)
n.36T>A
11g.47441697T>ACA380329605RAPSNc.826A>T (p.Met276Leu)
c.789+126A>T (n.789+126A>T)
c.667A>T (p.Met223Leu)
n.35A>T
 gnomAD v4
11g.47441697T>CCA380329607RAPSNc.826A>G (p.Met276Val)
c.789+126A>G (n.789+126A>G)
c.667A>G (p.Met223Val)
n.35A>G
 ClinVar gnomAD v4
11g.47441697T>GCA380329610RAPSNc.826A>C (p.Met276Leu)
c.789+126A>C (n.789+126A>C)
c.667A>C (p.Met223Leu)
n.35A>C
11g.47441698G>ACA474218177RAPSNc.825C>T (p.Ile275=)
c.789+125C>T (n.789+125C>T)
c.666C>T (p.Ile222=)
n.34C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47441698G>CCA380329612RAPSNc.825C>G (p.Ile275Met)
c.789+125C>G (n.789+125C>G)
c.666C>G (p.Ile222Met)
n.34C>G
11g.47441698G=CA1969387596RAPSNc.825C= (p.Ile275=)
c.789+125C= (n.789+125C=)
c.666C= (p.Ile222=)
n.34C=
11g.47441698G>TCA474218178RAPSNc.825C>A (p.Ile275=)
c.789+125C>A (n.789+125C>A)
c.666C>A (p.Ile222=)
n.34C>A
 gnomAD v4
11g.47441699A=CA1969387597RAPSNc.824T= (p.Ile275=)
c.789+124T= (n.789+124T=)
c.665T= (p.Ile222=)
n.33T=
11g.47441699A>CCA5976609RAPSNc.824T>G (p.Ile275Ser)
c.789+124T>G (n.789+124T>G)
c.665T>G (p.Ile222Ser)
n.33T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441699A>GCA221716338RAPSNc.824T>C (p.Ile275Thr)
c.789+124T>C (n.789+124T>C)
c.665T>C (p.Ile222Thr)
n.33T>C
 dbSNP
11g.47441699A>TCA380329616RAPSNc.824T>A (p.Ile275Asn)
c.789+124T>A (n.789+124T>A)
c.665T>A (p.Ile222Asn)
n.33T>A
11g.47441700T>ACA380329635RAPSNc.823A>T (p.Ile275Phe)
c.789+123A>T (n.789+123A>T)
c.664A>T (p.Ile222Phe)
n.32A>T
11g.47441700T>CCA380329643RAPSNc.823A>G (p.Ile275Val)
c.789+123A>G (n.789+123A>G)
c.664A>G (p.Ile222Val)
n.32A>G
11g.47441700T>GCA380329639RAPSNc.823A>C (p.Ile275Leu)
c.789+123A>C (n.789+123A>C)
c.664A>C (p.Ile222Leu)
n.32A>C
11g.47441701G>ACA474218179RAPSNc.822C>T (p.Ser274=)
c.789+122C>T (n.789+122C>T)
c.663C>T (p.Ser221=)
n.31C>T
 ClinVar gnomAD v4
11g.47441701G>CCA380329646RAPSNc.822C>G (p.Ser274Arg)
c.789+122C>G (n.789+122C>G)
c.663C>G (p.Ser221Arg)
n.31C>G
11g.47441701G=CA1969387598RAPSNc.822C= (p.Ser274=)
c.789+122C= (n.789+122C=)
c.663C= (p.Ser221=)
n.31C=
11g.47441701G>TCA5976610RAPSNc.822C>A (p.Ser274Arg)
c.789+122C>A (n.789+122C>A)
c.663C>A (p.Ser221Arg)
n.31C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441702C>ACA380329649RAPSNc.821G>T (p.Ser274Ile)
c.789+121G>T (n.789+121G>T)
c.662G>T (p.Ser221Ile)
n.30G>T
11g.47441702C=CA1969387599RAPSNc.821G= (p.Ser274=)
c.789+121G= (n.789+121G=)
c.662G= (p.Ser221=)
n.30G=
11g.47441702C>GCA380329652RAPSNc.821G>C (p.Ser274Thr)
c.789+121G>C (n.789+121G>C)
c.662G>C (p.Ser221Thr)
n.30G>C
11g.47441702C>TCA5976611RAPSNc.821G>A (p.Ser274Asn)
c.789+121G>A (n.789+121G>A)
c.662G>A (p.Ser221Asn)
n.30G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441703T>ACA380329658RAPSNc.820A>T (p.Ser274Cys)
c.789+120A>T (n.789+120A>T)
c.661A>T (p.Ser221Cys)
n.29A>T
11g.47441703T>CCA380329659RAPSNc.820A>G (p.Ser274Gly)
c.789+120A>G (n.789+120A>G)
c.661A>G (p.Ser221Gly)
n.29A>G
11g.47441703T>GCA221716343RAPSNc.820A>C (p.Ser274Arg)
c.789+120A>C (n.789+120A>C)
c.661A>C (p.Ser221Arg)
n.29A>C
 dbSNP gnomAD v3 gnomAD v4
11g.47441703T=CA1969387600RAPSNc.820A= (p.Ser274=)
c.789+120A= (n.789+120A=)
c.661A= (p.Ser221=)
n.29A=
11g.47441704C>ACA380329662RAPSNc.819G>T (p.Met273Ile)
c.789+119G>T (n.789+119G>T)
c.660G>T (p.Met220Ile)
n.28G>T
11g.47441704C=CA1969387601RAPSNc.819G= (p.Met273=)
c.789+119G= (n.789+119G=)
c.660G= (p.Met220=)
n.28G=
11g.47441704C>GCA380329666RAPSNc.819G>C (p.Met273Ile)
c.789+119G>C (n.789+119G>C)
c.660G>C (p.Met220Ile)
n.28G>C
11g.47441704C>TCA5976612RAPSNc.819G>A (p.Met273Ile)
c.789+119G>A (n.789+119G>A)
c.660G>A (p.Met220Ile)
n.28G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441705A=CA1969387602RAPSNc.818T= (p.Met273=)
c.789+118T= (n.789+118T=)
c.659T= (p.Met220=)
n.27T=
11g.47441705A>CCA221716353RAPSNc.818T>G (p.Met273Arg)
c.789+118T>G (n.789+118T>G)
c.659T>G (p.Met220Arg)
n.27T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441705A>GCA380329687RAPSNc.818T>C (p.Met273Thr)
c.789+118T>C (n.789+118T>C)
c.659T>C (p.Met220Thr)
n.27T>C
 dbSNP gnomAD v4
11g.47441705A>TCA380329685RAPSNc.818T>A (p.Met273Lys)
c.789+118T>A (n.789+118T>A)
c.659T>A (p.Met220Lys)
n.27T>A
11g.47441706T>ACA380329699RAPSNc.817A>T (p.Met273Leu)
c.789+117A>T (n.789+117A>T)
c.658A>T (p.Met220Leu)
n.26A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441706T>CCA380329701RAPSNc.817A>G (p.Met273Val)
c.789+117A>G (n.789+117A>G)
c.658A>G (p.Met220Val)
n.26A>G
 dbSNP gnomAD v2 gnomAD v4
11g.47441706T>GCA380329703RAPSNc.817A>C (p.Met273Leu)
c.789+117A>C (n.789+117A>C)
c.658A>C (p.Met220Leu)
n.26A>C
 ClinVar gnomAD v4
11g.47441706T=CA1969387603RAPSNc.817A= (p.Met273=)
c.789+117A= (n.789+117A=)
c.658A= (p.Met220=)
n.26A=
11g.47441707G>ACA5976613RAPSNc.816C>T (p.Ala272=)
c.789+116C>T (n.789+116C>T)
c.657C>T (p.Ala219=)
n.25C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441707G>CCA474218182RAPSNc.816C>G (p.Ala272=)
c.789+116C>G (n.789+116C>G)
c.657C>G (p.Ala219=)
n.25C>G
11g.47441707G=CA1969387604RAPSNc.816C= (p.Ala272=)
c.789+116C= (n.789+116C=)
c.657C= (p.Ala219=)
n.25C=
11g.47441707G>TCA474218183RAPSNc.816C>A (p.Ala272=)
c.789+116C>A (n.789+116C>A)
c.657C>A (p.Ala219=)
n.25C>A
11g.47441708G>ACA5976614RAPSNc.815C>T (p.Ala272Val)
c.789+115C>T (n.789+115C>T)
c.656C>T (p.Ala219Val)
n.24C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441708G>CCA380329710RAPSNc.815C>G (p.Ala272Gly)
c.789+115C>G (n.789+115C>G)
c.656C>G (p.Ala219Gly)
n.24C>G
11g.47441708G=CA1969387605RAPSNc.815C= (p.Ala272=)
c.789+115C= (n.789+115C=)
c.656C= (p.Ala219=)
n.24C=
11g.47441708G>TCA380329713RAPSNc.815C>A (p.Ala272Asp)
c.789+115C>A (n.789+115C>A)
c.656C>A (p.Ala219Asp)
n.24C>A
 gnomAD v4
11g.47441709C>ACA5976616RAPSNc.814G>T (p.Ala272Ser)
c.789+114G>T (n.789+114G>T)
c.655G>T (p.Ala219Ser)
n.23G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441709C=CA1969387606RAPSNc.814G= (p.Ala272=)
c.789+114G= (n.789+114G=)
c.655G= (p.Ala219=)
n.23G=
11g.47441709C>GCA380329720RAPSNc.814G>C (p.Ala272Pro)
c.789+114G>C (n.789+114G>C)
c.655G>C (p.Ala219Pro)
n.23G>C
11g.47441709C>TCA5976615RAPSNc.814G>A (p.Ala272Thr)
c.789+114G>A (n.789+114G>A)
c.655G>A (p.Ala219Thr)
n.23G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441710G>ACA5976617RAPSNc.813C>T (p.Ser271=)
c.789+113C>T (n.789+113C>T)
c.654C>T (p.Ser218=)
n.22C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441710G>CCA474218184RAPSNc.813C>G (p.Ser271=)
c.789+113C>G (n.789+113C>G)
c.654C>G (p.Ser218=)
n.22C>G
11g.47441710G=CA1969387607RAPSNc.813C= (p.Ser271=)
c.789+113C= (n.789+113C=)
c.654C= (p.Ser218=)
n.22C=
11g.47441710G>TCA474218185RAPSNc.813C>A (p.Ser271=)
c.789+113C>A (n.789+113C>A)
c.654C>A (p.Ser218=)
n.22C>A
11g.47441711G>ACA380329728RAPSNc.812C>T (p.Ser271Phe)
c.789+112C>T (n.789+112C>T)
c.653C>T (p.Ser218Phe)
n.21C>T
11g.47441711G>CCA380329725RAPSNc.812C>G (p.Ser271Cys)
c.789+112C>G (n.789+112C>G)
c.653C>G (p.Ser218Cys)
n.21C>G
11g.47441711G>TCA380329722RAPSNc.812C>A (p.Ser271Tyr)
c.789+112C>A (n.789+112C>A)
c.653C>A (p.Ser218Tyr)
n.21C>A
11g.47441712A>CCA380329732RAPSNc.811T>G (p.Ser271Ala)
c.789+111T>G (n.789+111T>G)
c.652T>G (p.Ser218Ala)
n.20T>G
11g.47441712A>GCA380329733RAPSNc.811T>C (p.Ser271Pro)
c.789+111T>C (n.789+111T>C)
c.652T>C (p.Ser218Pro)
n.20T>C
11g.47441712A>TCA380329734RAPSNc.811T>A (p.Ser271Thr)
c.789+111T>A (n.789+111T>A)
c.652T>A (p.Ser218Thr)
n.20T>A
11g.47441713G>ACA474218187RAPSNc.810C>T (p.Asp270=)
c.789+110C>T (n.789+110C>T)
c.651C>T (p.Asp217=)
n.19C>T
11g.47441713G>CCA380329738RAPSNc.810C>G (p.Asp270Glu)
c.789+110C>G (n.789+110C>G)
c.651C>G (p.Asp217Glu)
n.19C>G
11g.47441713G>TCA380329740RAPSNc.810C>A (p.Asp270Glu)
c.789+110C>A (n.789+110C>A)
c.651C>A (p.Asp217Glu)
n.19C>A
 gnomAD v4
11g.47441714T>ACA380329742RAPSNc.809A>T (p.Asp270Val)
c.789+109A>T (n.789+109A>T)
c.650A>T (p.Asp217Val)
n.18A>T
11g.47441714T>CCA380329744RAPSNc.809A>G (p.Asp270Gly)
c.789+109A>G (n.789+109A>G)
c.650A>G (p.Asp217Gly)
n.18A>G
11g.47441714T>GCA380329745RAPSNc.809A>C (p.Asp270Ala)
c.789+109A>C (n.789+109A>C)
c.650A>C (p.Asp217Ala)
n.18A>C
11g.47441715C>ACA380329746RAPSNc.808G>T (p.Asp270Tyr)
c.789+108G>T (n.789+108G>T)
c.649G>T (p.Asp217Tyr)
n.17G>T
 gnomAD v4
11g.47441715C=CA1969387608RAPSNc.808G= (p.Asp270=)
c.789+108G= (n.789+108G=)
c.649G= (p.Asp217=)
n.17G=
11g.47441715C>GCA380329747RAPSNc.808G>C (p.Asp270His)
c.789+108G>C (n.789+108G>C)
c.649G>C (p.Asp217His)
n.17G>C
11g.47441715C>TCA5976618RAPSNc.808G>A (p.Asp270Asn)
c.789+108G>A (n.789+108G>A)
c.649G>A (p.Asp217Asn)
n.17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441716G>ACA5976619RAPSNc.807C>T (p.Tyr269=)
c.789+107C>T (n.789+107C>T)
c.648C>T (p.Tyr216=)
n.16C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.47441716G>CCA380329750RAPSNc.807C>G (p.Tyr269Ter)
c.789+107C>G (n.789+107C>G)
c.648C>G (p.Tyr216Ter)
n.16C>G
11g.47441716G=CA1969387609RAPSNc.807C= (p.Tyr269=)
c.789+107C= (n.789+107C=)
c.648C= (p.Tyr216=)
n.16C=
11g.47441716G>TCA119253RAPSNc.807C>A (p.Tyr269Ter)
c.789+107C>A (n.789+107C>A)
c.648C>A (p.Tyr216Ter)
n.16C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441717T>ACA380329752RAPSNc.806A>T (p.Tyr269Phe)
c.789+106A>T (n.789+106A>T)
c.647A>T (p.Tyr216Phe)
n.15A>T
 gnomAD v4
11g.47441717T>CCA380329753RAPSNc.806A>G (p.Tyr269Cys)
c.789+106A>G (n.789+106A>G)
c.647A>G (p.Tyr216Cys)
n.15A>G
11g.47441717T>GCA380329756RAPSNc.806A>C (p.Tyr269Ser)
c.789+106A>C (n.789+106A>C)
c.647A>C (p.Tyr216Ser)
n.15A>C
11g.47441718A>CCA380329764RAPSNc.805T>G (p.Tyr269Asp)
c.789+105T>G (n.789+105T>G)
c.646T>G (p.Tyr216Asp)
n.14T>G
11g.47441718A>GCA380329767RAPSNc.805T>C (p.Tyr269His)
c.789+105T>C (n.789+105T>C)
c.646T>C (p.Tyr216His)
n.14T>C
11g.47441718A>TCA380329768RAPSNc.805T>A (p.Tyr269Asn)
c.789+105T>A (n.789+105T>A)
c.646T>A (p.Tyr216Asn)
n.14T>A
11g.47441719C>ACA380329769RAPSNc.804G>T (p.Arg268Ser)
c.789+104G>T (n.789+104G>T)
c.645G>T (p.Arg215Ser)
n.13G>T
11g.47441719C>GCA380329770RAPSNc.804G>C (p.Arg268Ser)
c.789+104G>C (n.789+104G>C)
c.645G>C (p.Arg215Ser)
n.13G>C
11g.47441719C>TCA474218191RAPSNc.804G>A (p.Arg268=)
c.789+104G>A (n.789+104G>A)
c.645G>A (p.Arg215=)
n.13G>A
11g.47441720C>ACA380329772RAPSNc.803G>T (p.Arg268Met)
c.789+103G>T (n.789+103G>T)
c.644G>T (p.Arg215Met)
n.12G>T
11g.47441720C=CA1969387610RAPSNc.803G= (p.Arg268=)
c.789+103G= (n.789+103G=)
c.644G= (p.Arg215=)
n.12G=
11g.47441720C>GCA380329774RAPSNc.803G>C (p.Arg268Thr)
c.789+103G>C (n.789+103G>C)
c.644G>C (p.Arg215Thr)
n.12G>C
11g.47441720C>TCA380329776RAPSNc.803G>A (p.Arg268Lys)
c.789+103G>A (n.789+103G>A)
c.644G>A (p.Arg215Lys)
n.12G>A
 dbSNP gnomAD v2 gnomAD v4
11g.47441721T>ACA380329779RAPSNc.802A>T (p.Arg268Trp)
c.789+102A>T (n.789+102A>T)
c.643A>T (p.Arg215Trp)
n.11A>T
11g.47441721T>CCA380329783RAPSNc.802A>G (p.Arg268Gly)
c.789+102A>G (n.789+102A>G)
c.643A>G (p.Arg215Gly)
n.11A>G
11g.47441721T>GCA474218195RAPSNc.802A>C (p.Arg268=)
c.789+102A>C (n.789+102A>C)
c.643A>C (p.Arg215=)
n.11A>C
11g.47441722G>ACA474218196RAPSNc.801C>T (p.Pro267=)
c.789+101C>T (n.789+101C>T)
c.642C>T (p.Pro214=)
n.10C>T
11g.47441722G>CCA474218197RAPSNc.801C>G (p.Pro267=)
c.789+101C>G (n.789+101C>G)
c.642C>G (p.Pro214=)
n.10C>G
11g.47441722G>TCA474218198RAPSNc.801C>A (p.Pro267=)
c.789+101C>A (n.789+101C>A)
c.642C>A (p.Pro214=)
n.10C>A
 gnomAD v4
11g.47441724_47441725dupCA2613411825RAPSNc.800_801dup (p.Arg268ProfsTer7)
c.789+100_789+101dup (n.789+100_789+101dup)
c.641_642dup (p.Arg215ProfsTer7)
n.9_10dup
 gnomAD v4
11g.47441725delCA2613411828RAPSNc.801del (p.Arg268GlyfsTer6)
c.789+101del (n.789+101del)
c.642del (p.Arg215GlyfsTer6)
n.10del
 gnomAD v4
11g.47441723G>ACA380329787RAPSNc.800C>T (p.Pro267Leu)
c.789+100C>T (n.789+100C>T)
c.641C>T (p.Pro214Leu)
n.9C>T
11g.47441723G>CCA380329790RAPSNc.800C>G (p.Pro267Arg)
c.789+100C>G (n.789+100C>G)
c.641C>G (p.Pro214Arg)
n.9C>G
11g.47441723G>TCA380329785RAPSNc.800C>A (p.Pro267His)
c.789+100C>A (n.789+100C>A)
c.641C>A (p.Pro214His)
n.9C>A
 gnomAD v4
11g.47441724G>ACA380329800RAPSNc.799C>T (p.Pro267Ser)
c.789+99C>T (n.789+99C>T)
c.640C>T (p.Pro214Ser)
n.8C>T
 ClinVar
11g.47441724G>CCA380329793RAPSNc.799C>G (p.Pro267Ala)
c.789+99C>G (n.789+99C>G)
c.640C>G (p.Pro214Ala)
n.8C>G
11g.47441724G>TCA380329796RAPSNc.799C>A (p.Pro267Thr)
c.789+99C>A (n.789+99C>A)
c.640C>A (p.Pro214Thr)
n.8C>A
 gnomAD v4
11g.47441725G>ACA474218200RAPSNc.798C>T (p.Phe266=)
c.789+98C>T (n.789+98C>T)
c.639C>T (p.Phe213=)
n.7C>T
 ClinVar dbSNP gnomAD v2
11g.47441725G>CCA380329802RAPSNc.798C>G (p.Phe266Leu)
c.789+98C>G (n.789+98C>G)
c.639C>G (p.Phe213Leu)
n.7C>G
11g.47441725G=CA1969387611RAPSNc.798C= (p.Phe266=)
c.789+98C= (n.789+98C=)
c.639C= (p.Phe213=)
n.7C=
11g.47441725G>TCA380329804RAPSNc.798C>A (p.Phe266Leu)
c.789+98C>A (n.789+98C>A)
c.639C>A (p.Phe213Leu)
n.7C>A
 gnomAD v4
11g.47441726A>CCA380329806RAPSNc.797T>G (p.Phe266Cys)
c.789+97T>G (n.789+97T>G)
c.638T>G (p.Phe213Cys)
n.6T>G
11g.47441726A>GCA380329808RAPSNc.797T>C (p.Phe266Ser)
c.789+97T>C (n.789+97T>C)
c.638T>C (p.Phe213Ser)
n.6T>C
 gnomAD v4 COSMIC
11g.47441726A>TCA380329812RAPSNc.797T>A (p.Phe266Tyr)
c.789+97T>A (n.789+97T>A)
c.638T>A (p.Phe213Tyr)
n.6T>A
11g.47441727delCA2613411846RAPSNc.797del (p.Phe266SerfsTer8)
c.789+97del (n.789+97del)
c.638del (p.Phe213SerfsTer8)
n.6del
 gnomAD v4
11g.47441727A>CCA380329815RAPSNc.796T>G (p.Phe266Val)
c.789+96T>G (n.789+96T>G)
c.637T>G (p.Phe213Val)
n.5T>G
 gnomAD v4
11g.47441727A>GCA380329816RAPSNc.796T>C (p.Phe266Leu)
c.789+96T>C (n.789+96T>C)
c.637T>C (p.Phe213Leu)
n.5T>C
11g.47441727A>TCA380329818RAPSNc.796T>A (p.Phe266Ile)
c.789+96T>A (n.789+96T>A)
c.637T>A (p.Phe213Ile)
n.5T>A
11g.47441728G>ACA474218202RAPSNc.795C>T (p.Ala265=)
c.789+95C>T (n.789+95C>T)
c.636C>T (p.Ala212=)
n.4C>T
11g.47441728G>CCA474218203RAPSNc.795C>G (p.Ala265=)
c.789+95C>G (n.789+95C>G)
c.636C>G (p.Ala212=)
n.4C>G
 dbSNP gnomAD v2
11g.47441728G=CA1969387612RAPSNc.795C= (p.Ala265=)
c.789+95C= (n.789+95C=)
c.636C= (p.Ala212=)
n.4C=
11g.47441728G>TCA474218204RAPSNc.795C>A (p.Ala265=)
c.789+95C>A (n.789+95C>A)
c.636C>A (p.Ala212=)
n.4C>A
 gnomAD v4
11g.47441729dupCA2695213977RAPSNc.795dup (p.Phe266LeufsTer?)
c.789+95dup (n.789+95dup)
c.636dup (p.Phe213LeufsTer?)
n.4dup
11g.47441729G>ACA380329822RAPSNc.794C>T (p.Ala265Val)
c.789+94C>T (n.789+94C>T)
c.635C>T (p.Ala212Val)
n.3C>T
 ClinVar dbSNP gnomAD v4
11g.47441729G>CCA380329823RAPSNc.794C>G (p.Ala265Gly)
c.789+94C>G (n.789+94C>G)
c.635C>G (p.Ala212Gly)
n.3C>G
11g.47441729G=CA1969387613RAPSNc.794C= (p.Ala265=)
c.789+94C= (n.789+94C=)
c.635C= (p.Ala212=)
n.3C=
11g.47441729G>TCA221716423RAPSNc.794C>A (p.Ala265Asp)
c.789+94C>A (n.789+94C>A)
c.635C>A (p.Ala212Asp)
n.3C>A
 dbSNP gnomAD v4 COSMIC
11g.47441730C>ACA380329824RAPSNc.793G>T (p.Ala265Ser)
c.789+93G>T (n.789+93G>T)
c.634G>T (p.Ala212Ser)
n.2G>T
 gnomAD v4
11g.47441730C=CA1969387614RAPSNc.793G= (p.Ala265=)
c.789+93G= (n.789+93G=)
c.634G= (p.Ala212=)
n.2G=
11g.47441730C>GCA380329825RAPSNc.793G>C (p.Ala265Pro)
c.789+93G>C (n.789+93G>C)
c.634G>C (p.Ala212Pro)
n.2G>C
11g.47441730C>TCA5976620RAPSNc.793G>A (p.Ala265Thr)
c.789+93G>A (n.789+93G>A)
c.634G>A (p.Ala212Thr)
n.2G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441731T>ACA474218207RAPSNc.792A>T (p.Thr264=)
c.789+92A>T (n.789+92A>T)
c.633A>T (p.Thr211=)
n.1A>T
11g.47441731T>CCA474218205RAPSNc.792A>G (p.Thr264=)
c.789+92A>G (n.789+92A>G)
c.633A>G (p.Thr211=)
n.1A>G
11g.47441731T>GCA474218206RAPSNc.792A>C (p.Thr264=)
c.789+92A>C (n.789+92A>C)
c.633A>C (p.Thr211=)
n.1A>C
11g.47441732G>ACA5976621RAPSNc.791C>T (p.Thr264Ile)
c.789+91C>T (n.789+91C>T)
c.632C>T (p.Thr211Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441732G>CCA380329827RAPSNc.791C>G (p.Thr264Arg)
c.789+91C>G (n.789+91C>G)
c.632C>G (p.Thr211Arg)
11g.47441732G=CA1969387615RAPSNc.791C= (p.Thr264=)
c.789+91C= (n.789+91C=)
c.632C= (p.Thr211=)
11g.47441732G>TCA380329828RAPSNc.791C>A (p.Thr264Lys)
c.789+91C>A (n.789+91C>A)
c.632C>A (p.Thr211Lys)
 gnomAD v4
11g.47441733T>ACA380329832RAPSNc.790A>T (p.Thr264Ser)
c.789+90A>T (n.789+90A>T)
c.631A>T (p.Thr211Ser)
11g.47441733T>CCA380329834RAPSNc.790A>G (p.Thr264Ala)
c.789+90A>G (n.789+90A>G)
c.631A>G (p.Thr211Ala)
 gnomAD v4
11g.47441733T>GCA380329836RAPSNc.790A>C (p.Thr264Pro)
c.789+90A>C (n.789+90A>C)
c.631A>C (p.Thr211Pro)
11g.47441734C>ACA380329838RAPSNc.790-1G>T (n.790-1G>T)
c.789+89G>T (n.789+89G>T)
c.631-1G>T (n.631-1G>T)
11g.47441734C>GCA380329844RAPSNc.790-1G>C (n.790-1G>C)
c.789+89G>C (n.789+89G>C)
c.631-1G>C (n.631-1G>C)
11g.47441734C>TCA380329841RAPSNc.790-1G>A (n.790-1G>A)
c.789+89G>A (n.789+89G>A)
c.631-1G>A (n.631-1G>A)
11g.47441735T>ACA380329849RAPSNc.790-2A>T (n.790-2A>T)
c.789+88A>T (n.789+88A>T)
c.631-2A>T (n.631-2A>T)
11g.47441735T>CCA380329852RAPSNc.790-2A>G (n.790-2A>G)
c.789+88A>G (n.789+88A>G)
c.631-2A>G (n.631-2A>G)
 gnomAD v4
11g.47441735T>GCA380329854RAPSNc.790-2A>C (n.790-2A>C)
c.789+88A>C (n.789+88A>C)
c.631-2A>C (n.631-2A>C)
11g.47441736G>ACA2613411936RAPSNc.790-3C>T (n.790-3C>T)
c.789+87C>T (n.789+87C>T)
c.631-3C>T (n.631-3C>T)
 gnomAD v4
11g.47441736G=CA1969387616RAPSNc.790-3C= (n.790-3C=)
c.789+87C= (n.789+87C=)
c.631-3C= (n.631-3C=)
11g.47441736G>TCA645579422RAPSNc.790-3C>A (n.790-3C>A)
c.789+87C>A (n.789+87C>A)
c.631-3C>A (n.631-3C>A)
 dbSNP gnomAD v4 COSMIC
11g.47441737C>ACA2613411940RAPSNc.790-4G>T (n.790-4G>T)
c.789+86G>T (n.789+86G>T)
c.631-4G>T (n.631-4G>T)
 gnomAD v4
11g.47441737C=CA1969387617RAPSNc.790-4G= (n.790-4G=)
c.789+86G= (n.789+86G=)
c.631-4G= (n.631-4G=)
11g.47441737C>GCA599374775RAPSNc.790-4G>C (n.790-4G>C)
c.789+86G>C (n.789+86G>C)
c.631-4G>C (n.631-4G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.47441737C>TCA599374776RAPSNc.790-4G>A (n.790-4G>A)
c.789+86G>A (n.789+86G>A)
c.631-4G>A (n.631-4G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.47441738A=CA1969387618RAPSNc.790-5T= (n.790-5T=)
c.789+85T= (n.789+85T=)
c.631-5T= (n.631-5T=)
11g.47441738A>GCA5976622RAPSNc.790-5T>C (n.790-5T>C)
c.789+85T>C (n.789+85T>C)
c.631-5T>C (n.631-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441739G>ACA2499221051RAPSNc.790-6C>T (n.790-6C>T)
c.789+84C>T (n.789+84C>T)
c.631-6C>T (n.631-6C>T)
 ClinVar dbSNP
11g.47441739G>CCA1969387620RAPSNc.790-6C>G (n.790-6C>G)
c.789+84C>G (n.789+84C>G)
c.631-6C>G (n.631-6C>G)
 dbSNP gnomAD v4
11g.47441739G=CA1969387619RAPSNc.790-6C= (n.790-6C=)
c.789+84C= (n.789+84C=)
c.631-6C= (n.631-6C=)
11g.47441739G>TCA2613411974RAPSNc.790-6C>A (n.790-6C>A)
c.789+84C>A (n.789+84C>A)
c.631-6C>A (n.631-6C>A)
 gnomAD v4
11g.47441741G>ACA2613411981RAPSNc.790-8C>T (n.790-8C>T)
c.789+82C>T (n.789+82C>T)
c.631-8C>T (n.631-8C>T)
 gnomAD v4
11g.47441742C>GCA2580084183RAPSNc.790-9G>C (n.790-9G>C)
c.789+81G>C (n.789+81G>C)
c.631-9G>C (n.631-9G>C)
 ClinVar
11g.47441743C>ACA2530752540RAPSNc.790-10G>T (n.790-10G>T)
c.789+80G>T (n.789+80G>T)
c.631-10G>T (n.631-10G>T)
11g.47441744A>GCA2557922638RAPSNc.790-11T>C (n.790-11T>C)
c.789+79T>C (n.789+79T>C)
c.631-11T>C (n.631-11T>C)
 gnomAD v4
11g.47441745G>CCA2740093736RAPSNc.790-12C>G (n.790-12C>G)
c.789+78C>G (n.789+78C>G)
c.631-12C>G (n.631-12C>G)
 ClinVar
11g.47441745G>TCA2613411992RAPSNc.790-12C>A (n.790-12C>A)
c.789+78C>A (n.789+78C>A)
c.631-12C>A (n.631-12C>A)
 gnomAD v4
11g.47441746G>ACA5976623RAPSNc.790-13C>T (n.790-13C>T)
c.789+77C>T (n.789+77C>T)
c.631-13C>T (n.631-13C>T)
 ClinVar dbSNP ExAC gnomAD v4
11g.47441746G=CA1969387621RAPSNc.790-13C= (n.790-13C=)
c.789+77C= (n.789+77C=)
c.631-13C= (n.631-13C=)
11g.47441746G>TCA221716428RAPSNc.790-13C>A (n.790-13C>A)
c.789+77C>A (n.789+77C>A)
c.631-13C>A (n.631-13C>A)
 dbSNP gnomAD v4
11g.47441747dupCA2563254536RAPSNc.790-14dup (n.790-14dup)
c.789+76dup (n.789+76dup)
c.631-14dup (n.631-14dup)
11g.47441748G>ACA1969387622RAPSNc.790-15C>T (n.790-15C>T)
c.789+75C>T (n.789+75C>T)
c.631-15C>T (n.631-15C>T)
 ClinVar dbSNP gnomAD v4
11g.47441748G>CCA5976624RAPSNc.790-15C>G (n.790-15C>G)
c.789+75C>G (n.789+75C>G)
c.631-15C>G (n.631-15C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441748G=CA1969387623RAPSNc.790-15C= (n.790-15C=)
c.789+75C= (n.789+75C=)
c.631-15C= (n.631-15C=)
11g.47441748G>TCA599374777RAPSNc.790-15C>A (n.790-15C>A)
c.789+75C>A (n.789+75C>A)
c.631-15C>A (n.631-15C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441752delCA2613412012RAPSNc.790-15del (n.790-15del)
c.789+75del (n.789+75del)
c.631-15del (n.631-15del)
 gnomAD v4
11g.47441749G>TCA2613412043RAPSNc.790-16C>A (n.790-16C>A)
c.789+74C>A (n.789+74C>A)
c.631-16C>A (n.631-16C>A)
 gnomAD v4
11g.47441750G>ACA2740093737RAPSNc.790-17C>T (n.790-17C>T)
c.789+73C>T (n.789+73C>T)
c.631-17C>T (n.631-17C>T)
 ClinVar
11g.47441750G>CCA599374778RAPSNc.790-17C>G (n.790-17C>G)
c.789+73C>G (n.789+73C>G)
c.631-17C>G (n.631-17C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441750G=CA1969387624RAPSNc.790-17C= (n.790-17C=)
c.789+73C= (n.789+73C=)
c.631-17C= (n.631-17C=)
11g.47441750G>TCA2613412049RAPSNc.790-17C>A (n.790-17C>A)
c.789+73C>A (n.789+73C>A)
c.631-17C>A (n.631-17C>A)
 gnomAD v4
11g.47441751G>TCA2613412054RAPSNc.790-18C>A (n.790-18C>A)
c.789+72C>A (n.789+72C>A)
c.631-18C>A (n.631-18C>A)
 gnomAD v4
11g.47441752G>ACA2613412060RAPSNc.790-19C>T (n.790-19C>T)
c.789+71C>T (n.789+71C>T)
c.631-19C>T (n.631-19C>T)
 gnomAD v4
11g.47441752G=CA1969387625RAPSNc.790-19C= (n.790-19C=)
c.789+71C= (n.789+71C=)
c.631-19C= (n.631-19C=)
11g.47441752G>TCA5976625RAPSNc.790-19C>A (n.790-19C>A)
c.789+71C>A (n.789+71C>A)
c.631-19C>A (n.631-19C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441753A>GCA2613412067RAPSNc.790-20T>C (n.790-20T>C)
c.789+70T>C (n.789+70T>C)
c.631-20T>C (n.631-20T>C)
 gnomAD v4
11g.47441753A>TCA2517028081RAPSNc.790-20T>A (n.790-20T>A)
c.789+70T>A (n.789+70T>A)
c.631-20T>A (n.631-20T>A)
11g.47441754T>CCA937663682RAPSNc.790-21A>G (n.790-21A>G)
c.789+69A>G (n.789+69A>G)
c.631-21A>G (n.631-21A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.47441754T=CA1969387626RAPSNc.790-21A= (n.790-21A=)
c.789+69A= (n.789+69A=)
c.631-21A= (n.631-21A=)
11g.47441755G>TCA2613412072RAPSNc.790-22C>A (n.790-22C>A)
c.789+68C>A (n.789+68C>A)
c.631-22C>A (n.631-22C>A)
 gnomAD v4
11g.47441756G>ACA2574817143RAPSNc.790-23C>T (n.790-23C>T)
c.789+67C>T (n.789+67C>T)
c.631-23C>T (n.631-23C>T)
 gnomAD v4
11g.47441756G>CCA599374779RAPSNc.790-23C>G (n.790-23C>G)
c.789+67C>G (n.789+67C>G)
c.631-23C>G (n.631-23C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.47441756G=CA1969387627RAPSNc.790-23C= (n.790-23C=)
c.789+67C= (n.789+67C=)
c.631-23C= (n.631-23C=)
11g.47441756G>TCA2613412074RAPSNc.790-23C>A (n.790-23C>A)
c.789+67C>A (n.789+67C>A)
c.631-23C>A (n.631-23C>A)
 gnomAD v4
11g.47441757A>CCA2791336097RAPSNc.790-24T>G (n.790-24T>G)
c.789+66T>G (n.789+66T>G)
c.631-24T>G (n.631-24T>G)
11g.47441757A>GCA2538212489RAPSNc.790-24T>C (n.790-24T>C)
c.789+66T>C (n.789+66T>C)
c.631-24T>C (n.631-24T>C)
11g.47441758A>CCA2613412076RAPSNc.790-25T>G (n.790-25T>G)
c.789+65T>G (n.789+65T>G)
c.631-25T>G (n.631-25T>G)
 gnomAD v4
11g.47441760C>ACA2613412077RAPSNc.790-27G>T (n.790-27G>T)
c.789+63G>T (n.789+63G>T)
c.631-27G>T (n.631-27G>T)
 gnomAD v4
11g.47441760C=CA1969387628RAPSNc.790-27G= (n.790-27G=)
c.789+63G= (n.789+63G=)
c.631-27G= (n.631-27G=)
11g.47441760C>TCA599374780RAPSNc.790-27G>A (n.790-27G>A)
c.789+63G>A (n.789+63G>A)
c.631-27G>A (n.631-27G>A)
 dbSNP gnomAD v2
11g.47441761A=CA1969387629RAPSNc.790-28T= (n.790-28T=)
c.789+62T= (n.789+62T=)
c.631-28T= (n.631-28T=)
11g.47441761A>CCA937663686RAPSNc.790-28T>G (n.790-28T>G)
c.789+62T>G (n.789+62T>G)
c.631-28T>G (n.631-28T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.47441761A>GCA2613412079RAPSNc.790-28T>C (n.790-28T>C)
c.789+62T>C (n.789+62T>C)
c.631-28T>C (n.631-28T>C)
 gnomAD v4
11g.47441762G=CA1969387630RAPSNc.790-29C= (n.790-29C=)
c.789+61C= (n.789+61C=)
c.631-29C= (n.631-29C=)
11g.47441762G>TCA599374781RAPSNc.790-29C>A (n.790-29C>A)
c.789+61C>A (n.789+61C>A)
c.631-29C>A (n.631-29C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.47441763G>ACA599374782RAPSNc.790-30C>T (n.790-30C>T)
c.789+60C>T (n.789+60C>T)
c.631-30C>T (n.631-30C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47441763G=CA1969387631RAPSNc.790-30C= (n.790-30C=)
c.789+60C= (n.789+60C=)
c.631-30C= (n.631-30C=)
11g.47441763G>TCA937663692RAPSNc.790-30C>A (n.790-30C>A)
c.789+60C>A (n.789+60C>A)
c.631-30C>A (n.631-30C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.47441764C>ACA2613412084RAPSNc.790-31G>T (n.790-31G>T)
c.789+59G>T (n.789+59G>T)
c.631-31G>T (n.631-31G>T)
 gnomAD v4
11g.47441764C=CA1969387632RAPSNc.790-31G= (n.790-31G=)
c.789+59G= (n.789+59G=)
c.631-31G= (n.631-31G=)
11g.47441764C>GCA1969387633RAPSNc.790-31G>C (n.790-31G>C)
c.789+59G>C (n.789+59G>C)
c.631-31G>C (n.631-31G>C)
 dbSNP
11g.47441765T>CCA5976626RAPSNc.790-32A>G (n.790-32A>G)
c.789+58A>G (n.789+58A>G)
c.631-32A>G (n.631-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441765T=CA1969387634RAPSNc.790-32A= (n.790-32A=)
c.789+58A= (n.789+58A=)
c.631-32A= (n.631-32A=)
11g.47441765_47441769delCA2559923772RAPSNc.790-36_790-32del (n.790-36_790-32del)
c.789+54_789+58del (n.789+54_789+58del)
c.631-36_631-32del (n.631-36_631-32del)
11g.47441766G>ACA677010275RAPSNc.790-33C>T (n.790-33C>T)
c.789+57C>T (n.789+57C>T)
c.631-33C>T (n.631-33C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.47441766G>CCA2613412092RAPSNc.790-33C>G (n.790-33C>G)
c.789+57C>G (n.789+57C>G)
c.631-33C>G (n.631-33C>G)
 gnomAD v4
11g.47441766G=CA1969387635RAPSNc.790-33C= (n.790-33C=)
c.789+57C= (n.789+57C=)
c.631-33C= (n.631-33C=)
11g.47441766G>TCA2613412095RAPSNc.790-33C>A (n.790-33C>A)
c.789+57C>A (n.789+57C>A)
c.631-33C>A (n.631-33C>A)
 gnomAD v4
11g.47441767T>CCA2791336098RAPSNc.790-34A>G (n.790-34A>G)
c.789+56A>G (n.789+56A>G)
c.631-34A>G (n.631-34A>G)
11g.47441767T>GCA2791336099RAPSNc.790-34A>C (n.790-34A>C)
c.789+56A>C (n.789+56A>C)
c.631-34A>C (n.631-34A>C)
11g.47441767_47441768insCAGGCTTTCA599374783RAPSNc.790-34_790-33insAAGCCTGA (n.790-34_790-33insAAGCCTGA)
c.789+56_789+57insAAGCCTGA (n.789+56_789+57insAAGCCTGA)
c.631-34_631-33insAAGCCTGA (n.631-34_631-33insAAGCCTGA)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441767dupCA5976627RAPSNc.790-34dup (n.790-34dup)
c.789+56dup (n.789+56dup)
c.631-34dup (n.631-34dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441768A=CA1969387636RAPSNc.790-35T= (n.790-35T=)
c.789+55T= (n.789+55T=)
c.631-35T= (n.631-35T=)
11g.47441768A>GCA1969387637RAPSNc.790-35T>C (n.790-35T>C)
c.789+55T>C (n.789+55T>C)
c.631-35T>C (n.631-35T>C)
 dbSNP
11g.47441769T>CCA599374784RAPSNc.790-36A>G (n.790-36A>G)
c.789+54A>G (n.789+54A>G)
c.631-36A>G (n.631-36A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.47441769T=CA1969387638RAPSNc.790-36A= (n.790-36A=)
c.789+54A= (n.789+54A=)
c.631-36A= (n.631-36A=)
11g.47441770C>ACA2613412136RAPSNc.790-37G>T (n.790-37G>T)
c.789+53G>T (n.789+53G>T)
c.631-37G>T (n.631-37G>T)
 gnomAD v4
11g.47441770C=CA1969387639RAPSNc.790-37G= (n.790-37G=)
c.789+53G= (n.789+53G=)
c.631-37G= (n.631-37G=)
11g.47441770C>TCA221716455RAPSNc.790-37G>A (n.790-37G>A)
c.789+53G>A (n.789+53G>A)
c.631-37G>A (n.631-37G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.47441771A>CCA2540884726RAPSNc.790-38T>G (n.790-38T>G)
c.789+52T>G (n.789+52T>G)
c.631-38T>G (n.631-38T>G)
11g.47441771A>GCA2613412140RAPSNc.790-38T>C (n.790-38T>C)
c.789+52T>C (n.789+52T>C)
c.631-38T>C (n.631-38T>C)
 gnomAD v4
11g.47441771A>TCA2613412141RAPSNc.790-38T>A (n.790-38T>A)
c.789+52T>A (n.789+52T>A)
c.631-38T>A (n.631-38T>A)
 gnomAD v4
11g.47441772G>CCA1969387641RAPSNc.790-39C>G (n.790-39C>G)
c.789+51C>G (n.789+51C>G)
c.631-39C>G (n.631-39C>G)
 dbSNP
11g.47441772G=CA1969387640RAPSNc.790-39C= (n.790-39C=)
c.789+51C= (n.789+51C=)
c.631-39C= (n.631-39C=)
11g.47441772G>TCA2613412142RAPSNc.790-39C>A (n.790-39C>A)
c.789+51C>A (n.789+51C>A)
c.631-39C>A (n.631-39C>A)
 gnomAD v4
11g.47441773G>ACA221716488RAPSNc.790-40C>T (n.790-40C>T)
c.789+50C>T (n.789+50C>T)
c.631-40C>T (n.631-40C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441773G>CCA2613412148RAPSNc.790-40C>G (n.790-40C>G)
c.789+50C>G (n.789+50C>G)
c.631-40C>G (n.631-40C>G)
 gnomAD v4
11g.47441773G=CA1969387642RAPSNc.790-40C= (n.790-40C=)
c.789+50C= (n.789+50C=)
c.631-40C= (n.631-40C=)
11g.47441773G>TCA5976628RAPSNc.790-40C>A (n.790-40C>A)
c.789+50C>A (n.789+50C>A)
c.631-40C>A (n.631-40C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441774C>ACA5976629RAPSNc.790-41G>T (n.790-41G>T)
c.789+49G>T (n.789+49G>T)
c.631-41G>T (n.631-41G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441774C=CA1969387643RAPSNc.790-41G= (n.790-41G=)
c.789+49G= (n.789+49G=)
c.631-41G= (n.631-41G=)
11g.47441774C>TCA2613412176RAPSNc.790-41G>A (n.790-41G>A)
c.789+49G>A (n.789+49G>A)
c.631-41G>A (n.631-41G>A)
 gnomAD v4
11g.47441775C=CA1969387644RAPSNc.790-42G= (n.790-42G=)
c.789+48G= (n.789+48G=)
c.631-42G= (n.631-42G=)
11g.47441775C>TCA599374786RAPSNc.790-42G>A (n.790-42G>A)
c.789+48G>A (n.789+48G>A)
c.631-42G>A (n.631-42G>A)
 dbSNP gnomAD v2
11g.47441777G>ACA2613412186RAPSNc.790-44C>T (n.790-44C>T)
c.789+46C>T (n.789+46C>T)
c.631-44C>T (n.631-44C>T)
 gnomAD v4
11g.47441777G>TCA2613412184RAPSNc.790-44C>A (n.790-44C>A)
c.789+46C>A (n.789+46C>A)
c.631-44C>A (n.631-44C>A)
 gnomAD v4
11g.47441777_47441778insGGCA2613412197RAPSNc.790-44_790-43insCC (n.790-44_790-43insCC)
c.789+46_789+47insCC (n.789+46_789+47insCC)
c.631-44_631-43insCC (n.631-44_631-43insCC)
 gnomAD v4
11g.47441777_47441778insGGGCA2613412196RAPSNc.790-44_790-43insCCC (n.790-44_790-43insCCC)
c.789+46_789+47insCCC (n.789+46_789+47insCCC)
c.631-44_631-43insCCC (n.631-44_631-43insCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGGCA2613412194RAPSNc.790-44_790-43insCCCCCC (n.790-44_790-43insCCCCCC)
c.789+46_789+47insCCCCCC (n.789+46_789+47insCCCCCC)
c.631-44_631-43insCCCCCC (n.631-44_631-43insCCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCGCA2613412195RAPSNc.790-44_790-43insGCCCCCC (n.790-44_790-43insGCCCCCC)
c.789+46_789+47insGCCCCCC (n.789+46_789+47insGCCCCCC)
c.631-44_631-43insGCCCCCC (n.631-44_631-43insGCCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGGGCA2613412182RAPSNc.790-44_790-43insCCCCCCC (n.790-44_790-43insCCCCCCC)
c.789+46_789+47insCCCCCCC (n.789+46_789+47insCCCCCCC)
c.631-44_631-43insCCCCCCC (n.631-44_631-43insCCCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCGGCA2613412188RAPSNc.790-44_790-43insCGCCCCCC (n.790-44_790-43insCGCCCCCC)
c.789+46_789+47insCGCCCCCC (n.789+46_789+47insCGCCCCCC)
c.631-44_631-43insCGCCCCCC (n.631-44_631-43insCGCCCCCC)
 gnomAD v4
11g.47441777dupCA2613412198RAPSNc.790-44dup (n.790-44dup)
c.789+46dup (n.789+46dup)
c.631-44dup (n.631-44dup)
 gnomAD v4
11g.47441777_47441778insGGGGCCCA2613412208RAPSNc.790-45_790-44insGGCCCC (n.790-45_790-44insGGCCCC)
c.789+45_789+46insGGCCCC (n.789+45_789+46insGGCCCC)
c.631-45_631-44insGGCCCC (n.631-45_631-44insGGCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCCA2613412211RAPSNc.790-45_790-44insGCCCCC (n.790-45_790-44insGCCCCC)
c.789+45_789+46insGCCCCC (n.789+45_789+46insGCCCCC)
c.631-45_631-44insGCCCCC (n.631-45_631-44insGCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGCCCCA2613412210RAPSNc.790-45_790-44insGGGCCCC (n.790-45_790-44insGGGCCCC)
c.789+45_789+46insGGGCCCC (n.789+45_789+46insGGGCCCC)
c.631-45_631-44insGGGCCCC (n.631-45_631-44insGGGCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCCCA2613412214RAPSNc.790-45_790-44insGGCCCCC (n.790-45_790-44insGGCCCCC)
c.789+45_789+46insGGCCCCC (n.789+45_789+46insGGCCCCC)
c.631-45_631-44insGGCCCCC (n.631-45_631-44insGGCCCCC)
 gnomAD v4
11g.47441778delCA2549792497RAPSNc.790-45del (n.790-45del)
c.789+45del (n.789+45del)
c.631-45del (n.631-45del)
11g.47441778T>ACA2574817144RAPSNc.790-45A>T (n.790-45A>T)
c.789+45A>T (n.789+45A>T)
c.631-45A>T (n.631-45A>T)
11g.47441778T>CCA2574817145RAPSNc.790-45A>G (n.790-45A>G)
c.789+45A>G (n.789+45A>G)
c.631-45A>G (n.631-45A>G)
 gnomAD v4
11g.47441778T>GCA2613412226RAPSNc.790-45A>C (n.790-45A>C)
c.789+45A>C (n.789+45A>C)
c.631-45A>C (n.631-45A>C)
 gnomAD v4
11g.47441778T=CA1969387645RAPSNc.790-45A= (n.790-45A=)
c.789+45A= (n.789+45A=)
c.631-45A= (n.631-45A=)
11g.47441779G>ACA5976630RAPSNc.789+44C>T (n.789+44C>T)
c.630+44C>T (n.630+44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779G=CA1969387646RAPSNc.789+44C= (n.789+44C=)
c.630+44C= (n.630+44C=)
11g.47441779G>TCA2525443992RAPSNc.789+44C>A (n.789+44C>A)
c.630+44C>A (n.630+44C>A)
 gnomAD v4
11g.47441779_47441780insGGCA2613412242RAPSNc.789+44_790-45insCC (n.789+44_790-45insCC)
c.789+44_789+45insCC (n.789+44_789+45insCC)
c.630+44_631-45insCC (n.630+44_631-45insCC)
 gnomAD v4
11g.47441779_47441780insGGGCA2613412232RAPSNc.789+44_790-45insCCC (n.789+44_790-45insCCC)
c.789+44_789+45insCCC (n.789+44_789+45insCCC)
c.630+44_631-45insCCC (n.630+44_631-45insCCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCA2613412240RAPSNc.789+44_790-45insGGGCCC (n.789+44_790-45insGGGCCC)
c.789+44_789+45insGGGCCC (n.789+44_789+45insGGGCCC)
c.630+44_631-45insGGGCCC (n.630+44_631-45insGGGCCC)
 gnomAD v4
11g.47441779dupCA599374787RAPSNc.789+44dup (n.789+44dup)
c.630+44dup (n.630+44dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441783delCA2574817146RAPSNc.789+40_789+44del (n.789+40_789+44del)
c.630+40_630+44del (n.630+40_630+44del)
11g.47441779_47441780insGCCA937663725RAPSNc.789+43_789+44insGC (n.789+43_789+44insGC)
c.630+43_630+44insGC (n.630+43_630+44insGC)
 gnomAD v3 gnomAD v4
11g.47441779_47441780insACCCCA2613412976RAPSNc.789+43_789+44insGGGT (n.789+43_789+44insGGGT)
c.630+43_630+44insGGGT (n.630+43_630+44insGGGT)
 gnomAD v4
11g.47441779_47441780insGCCCCA599374796RAPSNc.789+43_789+44insGGGC (n.789+43_789+44insGGGC)
c.630+43_630+44insGGGC (n.630+43_630+44insGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCA2613413101RAPSNc.789+43_789+44insGGCC (n.789+43_789+44insGGCC)
c.630+43_630+44insGGCC (n.630+43_630+44insGGCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCA2613412969RAPSNc.789+43_789+44insGGGGC (n.789+43_789+44insGGGGC)
c.630+43_630+44insGGGGC (n.630+43_630+44insGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCA2613413097RAPSNc.789+43_789+44insGGGCC (n.789+43_789+44insGGGCC)
c.630+43_630+44insGGGCC (n.630+43_630+44insGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCA2613412482RAPSNc.789+43_789+44insGGCCC (n.789+43_789+44insGGCCC)
c.630+43_630+44insGGCCC (n.630+43_630+44insGGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCA2613412635RAPSNc.789+43_789+44insGGGGA (n.789+43_789+44insGGGGA)
c.630+43_630+44insGGGGA (n.630+43_630+44insGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCA599374795RAPSNc.789+43_789+44insGGGGGC (n.789+43_789+44insGGGGGC)
c.630+43_630+44insGGGGGC (n.630+43_630+44insGGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCCCA2613413089RAPSNc.789+43_789+44insGGGGCC (n.789+43_789+44insGGGGCC)
c.630+43_630+44insGGGGCC (n.630+43_630+44insGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCA2613412611RAPSNc.789+43_789+44insGGGCCC (n.789+43_789+44insGGGCCC)
c.630+43_630+44insGGGCCC (n.630+43_630+44insGGGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCCA2613412680RAPSNc.789+43_789+44insGGGGGA (n.789+43_789+44insGGGGGA)
c.630+43_630+44insGGGGGA (n.630+43_630+44insGGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCA599374794RAPSNc.789+43_789+44insGGGGGGC (n.789+43_789+44insGGGGGGC)
c.630+43_630+44insGGGGGGC (n.630+43_630+44insGGGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCCCCA2613413085RAPSNc.789+43_789+44insGGGGGCC (n.789+43_789+44insGGGGGCC)
c.630+43_630+44insGGGGGCC (n.630+43_630+44insGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCA2613412608RAPSNc.789+43_789+44insGGGGCCC (n.789+43_789+44insGGGGCCC)
c.630+43_630+44insGGGGCCC (n.630+43_630+44insGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCA2613412822RAPSNc.789+43_789+44insGCCCCCC (n.789+43_789+44insGCCCCCC)
c.630+43_630+44insGCCCCCC (n.630+43_630+44insGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCA2613412838RAPSNc.789+43_789+44insGGGGGGGC (n.789+43_789+44insGGGGGGGC)
c.630+43_630+44insGGGGGGGC (n.630+43_630+44insGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCA2613413082RAPSNc.789+43_789+44insGGGGGGCC (n.789+43_789+44insGGGGGGCC)
c.630+43_630+44insGGGGGGCC (n.630+43_630+44insGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCCGCCA2613413012RAPSNc.789+43_789+44insGCGGGGCC (n.789+43_789+44insGCGGGGCC)
c.630+43_630+44insGCGGGGCC (n.630+43_630+44insGCGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCA2613413008RAPSNc.789+43_789+44insGGCGGGCC (n.789+43_789+44insGGCGGGCC)
c.630+43_630+44insGGCGGGCC (n.630+43_630+44insGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCA2613412607RAPSNc.789+43_789+44insGGGGGCCC (n.789+43_789+44insGGGGGCCC)
c.630+43_630+44insGGGGGCCC (n.630+43_630+44insGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCA2613412578RAPSNc.789+43_789+44insGGCGGCCC (n.789+43_789+44insGGCGGCCC)
c.630+43_630+44insGGCGGCCC (n.630+43_630+44insGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGGCCA2613412544RAPSNc.789+43_789+44insGCCGGCCC (n.789+43_789+44insGCCGGCCC)
c.630+43_630+44insGCCGGCCC (n.630+43_630+44insGCCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCA2613412638RAPSNc.789+43_789+44insGGCCGCCC (n.789+43_789+44insGGCCGCCC)
c.630+43_630+44insGGCCGCCC (n.630+43_630+44insGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCCA2613412818RAPSNc.789+43_789+44insGGCCCCCC (n.789+43_789+44insGGCCCCCC)
c.630+43_630+44insGGCCCCCC (n.630+43_630+44insGGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGGCCA2613412739RAPSNc.789+43_789+44insGCCCCCCC (n.789+43_789+44insGCCCCCCC)
c.630+43_630+44insGCCCCCCC (n.630+43_630+44insGCCCCCCC)
 gnomAD v4
11g.47441779_47441780insACCCCCCCCCA2613412973RAPSNc.789+43_789+44insGGGGGGGGT (n.789+43_789+44insGGGGGGGGT)
c.630+43_630+44insGGGGGGGGT (n.630+43_630+44insGGGGGGGGT)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCA599374793RAPSNc.789+43_789+44insGGGGGGGGC (n.789+43_789+44insGGGGGGGGC)
c.630+43_630+44insGGGGGGGGC (n.630+43_630+44insGGGGGGGGC)
 dbSNP gnomAD v2 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCA2613413076RAPSNc.789+43_789+44insGGGGGGGCC (n.789+43_789+44insGGGGGGGCC)
c.630+43_630+44insGGGGGGGCC (n.630+43_630+44insGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCA2613412603RAPSNc.789+43_789+44insGGGGGGCCC (n.789+43_789+44insGGGGGGCCC)
c.630+43_630+44insGGGGGGCCC (n.630+43_630+44insGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCA2613412572RAPSNc.789+43_789+44insGGGCGGCCC (n.789+43_789+44insGGGCGGCCC)
c.630+43_630+44insGGGCGGCCC (n.630+43_630+44insGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCA2613412536RAPSNc.789+43_789+44insGGGCCGCCC (n.789+43_789+44insGGGCCGCCC)
c.630+43_630+44insGGGCCGCCC (n.630+43_630+44insGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCCCCCA2613412679RAPSNc.789+43_789+44insGGGGGGGGA (n.789+43_789+44insGGGGGGGGA)
c.630+43_630+44insGGGGGGGGA (n.630+43_630+44insGGGGGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCA599374792RAPSNc.789+43_789+44insGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCA2613413072RAPSNc.789+43_789+44insGGGGGGGGCC (n.789+43_789+44insGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGCC (n.630+43_630+44insGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCA2613412601RAPSNc.789+43_789+44insGGGGGGGCCC (n.789+43_789+44insGGGGGGGCCC)
c.630+43_630+44insGGGGGGGCCC (n.630+43_630+44insGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCA2613412564RAPSNc.789+43_789+44insGGGGCGGCCC (n.789+43_789+44insGGGGCGGCCC)
c.630+43_630+44insGGGGCGGCCC (n.630+43_630+44insGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCCA2613412478RAPSNc.789+43_789+44insGGGGCCGCCC (n.789+43_789+44insGGGGCCGCCC)
c.630+43_630+44insGGGGCCGCCC (n.630+43_630+44insGGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCCCCCCA2613412661RAPSNc.789+43_789+44insGGGGGGGGGA (n.789+43_789+44insGGGGGGGGGA)
c.630+43_630+44insGGGGGGGGGA (n.630+43_630+44insGGGGGGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCA2613412919RAPSNc.789+43_789+44insGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCA2613413068RAPSNc.789+43_789+44insGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCGCCCCCCCA2613412959RAPSNc.789+43_789+44insGGGGGGCGGCC (n.789+43_789+44insGGGGGGCGGCC)
c.630+43_630+44insGGGGGGCGGCC (n.630+43_630+44insGGGGGGCGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCA2613412597RAPSNc.789+43_789+44insGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCCA2613412562RAPSNc.789+43_789+44insGGGGGCGGCCC (n.789+43_789+44insGGGGGCGGCCC)
c.630+43_630+44insGGGGGCGGCCC (n.630+43_630+44insGGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCCCA2613412729RAPSNc.789+43_789+44insGGGGGCCGCCC (n.789+43_789+44insGGGGGCCGCCC)
c.630+43_630+44insGGGGGCCGCCC (n.630+43_630+44insGGGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGCCCCCCCA2613412824RAPSNc.789+43_789+44insGGGGGGCCCCC (n.789+43_789+44insGGGGGGCCCCC)
c.630+43_630+44insGGGGGGCCCCC (n.630+43_630+44insGGGGGGCCCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCCCCCA2613412814RAPSNc.789+43_789+44insGGGGGCCCCCC (n.789+43_789+44insGGGGGCCCCCC)
c.630+43_630+44insGGGGGCCCCCC (n.630+43_630+44insGGGGGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCA2613412910RAPSNc.789+43_789+44insGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCA2613413027RAPSNc.789+43_789+44insGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCCCCCA2613413006RAPSNc.789+43_789+44insGGGGGGCGGGCC (n.789+43_789+44insGGGGGGCGGGCC)
c.630+43_630+44insGGGGGGCGGGCC (n.630+43_630+44insGGGGGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCGGCCCCCCCA2613412979RAPSNc.789+43_789+44insGGGGGGCCGGCC (n.789+43_789+44insGGGGGGCCGGCC)
c.630+43_630+44insGGGGGGCCGGCC (n.630+43_630+44insGGGGGGCCGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCCA2613412593RAPSNc.789+43_789+44insGGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCCCA2613412558RAPSNc.789+43_789+44insGGGGGGCGGCCC (n.789+43_789+44insGGGGGGCGGCCC)
c.630+43_630+44insGGGGGGCGGCCC (n.630+43_630+44insGGGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCCCCCCA2613412781RAPSNc.789+43_789+44insGGGGGGCCCCCC (n.789+43_789+44insGGGGGGCCCCCC)
c.630+43_630+44insGGGGGGCCCCCC (n.630+43_630+44insGGGGGGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCA2613412905RAPSNc.789+43_789+44insGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCCA2613412982RAPSNc.789+43_789+44insGGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCCCCA2613412551RAPSNc.789+43_789+44insGGGGGGGCGGCCC (n.789+43_789+44insGGGGGGGCGGCCC)
c.630+43_630+44insGGGGGGGCGGCCC (n.630+43_630+44insGGGGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCCCCCA2613412834RAPSNc.789+43_789+44insGGGGGGGCCGCCC (n.789+43_789+44insGGGGGGGCCGCCC)
c.630+43_630+44insGGGGGGGCCGCCC (n.630+43_630+44insGGGGGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGGCCCCCCCA2613412830RAPSNc.789+43_789+44insGGGGGGCCCGCCC (n.789+43_789+44insGGGGGGCCCGCCC)
c.630+43_630+44insGGGGGGCCCGCCC (n.630+43_630+44insGGGGGGCCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGGCCCCCCCA2613412736RAPSNc.789+43_789+44insGGGGGGCCCCCCC (n.789+43_789+44insGGGGGGCCCCCCC)
c.630+43_630+44insGGGGGGCCCCCCC (n.630+43_630+44insGGGGGGCCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCA2613412892RAPSNc.789+43_789+44insGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCGCCCCCCCCCA2613413151RAPSNc.789+43_789+44insGGGGGGGGCGGGGC (n.789+43_789+44insGGGGGGGGCGGGGC)
c.630+43_630+44insGGGGGGGGCGGGGC (n.630+43_630+44insGGGGGGGGCGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCCCA2613413023RAPSNc.789+43_789+44insGGGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCCCCCCCA2613413002RAPSNc.789+43_789+44insGGGGGGGGCGGGCC (n.789+43_789+44insGGGGGGGGCGGGCC)
c.630+43_630+44insGGGGGGGGCGGGCC (n.630+43_630+44insGGGGGGGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCCCCA2613412589RAPSNc.789+43_789+44insGGGGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCA2613412889RAPSNc.789+43_789+44insGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCGCCCCCCCCCCA2613413145RAPSNc.789+43_789+44insGGGGGGGGGCGGGGC (n.789+43_789+44insGGGGGGGGGCGGGGC)
c.630+43_630+44insGGGGGGGGGCGGGGC (n.630+43_630+44insGGGGGGGGGCGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCCCCA2613413018RAPSNc.789+43_789+44insGGGGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCCCCCCCCA2613412994RAPSNc.789+43_789+44insGGGGGGGGGCGGGCC (n.789+43_789+44insGGGGGGGGGCGGGCC)
c.630+43_630+44insGGGGGGGGGCGGGCC (n.630+43_630+44insGGGGGGGGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCCCCCA2613412582RAPSNc.789+43_789+44insGGGGGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCA2613412884RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCCA2613412880RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCCCCA2613412842RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCCCCCCCCCA2613412988RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441780C>ACA5976631RAPSNc.789+43G>T (n.789+43G>T)
c.630+43G>T (n.630+43G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441780C=CA1969387647RAPSNc.789+43G= (n.789+43G=)
c.630+43G= (n.630+43G=)
11g.47441780C>GCA599374791RAPSNc.789+43G>C (n.789+43G>C)
c.630+43G>C (n.630+43G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441780C>TCA2613412640RAPSNc.789+43G>A (n.789+43G>A)
c.630+43G>A (n.630+43G>A)
 gnomAD v4
11g.47441783dupCA599374790RAPSNc.789+43dup (n.789+43dup)
c.630+43dup (n.630+43dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441783delCA2613412660RAPSNc.789+43del (n.789+43del)
c.630+43del (n.630+43del)
 gnomAD v4
11g.47441780_47441784delCA2613412656RAPSNc.789+39_789+43del (n.789+39_789+43del)
c.630+39_630+43del (n.630+39_630+43del)
 gnomAD v4
11g.47441791_47441797dupCA2574817147RAPSNc.789+37_789+43dup (n.789+37_789+43dup)
c.630+37_630+43dup (n.630+37_630+43dup)
 gnomAD v4
11g.47441791_47441797delCA937663729RAPSNc.789+37_789+43del (n.789+37_789+43del)
c.630+37_630+43del (n.630+37_630+43del)
 gnomAD v3 gnomAD v4
11g.47441781C>ACA2613413214RAPSNc.789+42G>T (n.789+42G>T)
c.630+42G>T (n.630+42G>T)
 gnomAD v4
11g.47441781C>GCA2613413215RAPSNc.789+42G>C (n.789+42G>C)
c.630+42G>C (n.630+42G>C)
 gnomAD v4
11g.47441781C>TCA2613413218RAPSNc.789+42G>A (n.789+42G>A)
c.630+42G>A (n.630+42G>A)
 gnomAD v4
11g.47441782C>ACA2613413227RAPSNc.789+41G>T (n.789+41G>T)
c.630+41G>T (n.630+41G>T)
 gnomAD v4
11g.47441782C=CA1969387648RAPSNc.789+41G= (n.789+41G=)
c.630+41G= (n.630+41G=)
11g.47441782C>GCA2613413240RAPSNc.789+41G>C (n.789+41G>C)
c.630+41G>C (n.630+41G>C)
 gnomAD v4
11g.47441782C>TCA5976632RAPSNc.789+41G>A (n.789+41G>A)
c.630+41G>A (n.630+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441782_47441784delCA2613413234RAPSNc.789+39_789+41del (n.789+39_789+41del)
c.630+39_630+41del (n.630+39_630+41del)
 gnomAD v4
11g.47441783C>ACA2613413248RAPSNc.789+40G>T (n.789+40G>T)
c.630+40G>T (n.630+40G>T)
 gnomAD v4
11g.47441783C>TCA2613413265RAPSNc.789+40G>A (n.789+40G>A)
c.630+40G>A (n.630+40G>A)
 gnomAD v4
11g.47441783_47441784delCA2551843271RAPSNc.789+39_789+40del (n.789+39_789+40del)
c.630+39_630+40del (n.630+39_630+40del)
 gnomAD v4
11g.47441783_47441785delinsCTGCA1969387649RAPSNc.789+38_789+40delinsCAG (n.789+38_789+40delinsCAG)
c.630+38_630+40delinsCAG (n.630+38_630+40delinsCAG)

Number of alleles fetched