Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.38349480G>ACA269293277SPRED1c.641G>A (p.Arg214Gln)
c.677G>A (p.Arg226Gln)
c.419G>A (p.Arg140Gln)
c.578G>A (p.Arg193Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38349480G>CCA391932899SPRED1c.641G>C (p.Arg214Pro)
c.677G>C (p.Arg226Pro)
c.419G>C (p.Arg140Pro)
c.578G>C (p.Arg193Pro)
15g.38349480G=CA2170811834SPRED1c.641G= (p.Arg214=)
c.677G= (p.Arg226=)
c.419G= (p.Arg140=)
c.578G= (p.Arg193=)
15g.38349480G>TCA391932898SPRED1c.641G>T (p.Arg214Leu)
c.677G>T (p.Arg226Leu)
c.419G>T (p.Arg140Leu)
c.578G>T (p.Arg193Leu)
15g.38349481G>ACA489922850SPRED1c.642G>A (p.Arg214=)
c.678G>A (p.Arg226=)
c.420G>A (p.Arg140=)
c.579G>A (p.Arg193=)
 ClinVar dbSNP gnomAD v4
15g.38349481G>CCA489922851SPRED1c.642G>C (p.Arg214=)
c.678G>C (p.Arg226=)
c.420G>C (p.Arg140=)
c.579G>C (p.Arg193=)
15g.38349481G=CA2170811835SPRED1c.642G= (p.Arg214=)
c.678G= (p.Arg226=)
c.420G= (p.Arg140=)
c.579G= (p.Arg193=)
15g.38349481G>TCA489922852SPRED1c.642G>T (p.Arg214=)
c.678G>T (p.Arg226=)
c.420G>T (p.Arg140=)
c.579G>T (p.Arg193=)
15g.38349482C>ACA391932900SPRED1c.643C>A (p.Gln215Lys)
c.679C>A (p.Gln227Lys)
c.421C>A (p.Gln141Lys)
c.580C>A (p.Gln194Lys)
15g.38349482C=CA2170811836SPRED1c.643C= (p.Gln215=)
c.679C= (p.Gln227=)
c.421C= (p.Gln141=)
c.580C= (p.Gln194=)
15g.38349482C>GCA7470145SPRED1c.643C>G (p.Gln215Glu)
c.679C>G (p.Gln227Glu)
c.421C>G (p.Gln141Glu)
c.580C>G (p.Gln194Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349482C>TCA251953SPRED1c.643C>T (p.Gln215Ter)
c.679C>T (p.Gln227Ter)
c.421C>T (p.Gln141Ter)
c.580C>T (p.Gln194Ter)
 ClinVar dbSNP
15g.38349483A>CCA391932901SPRED1c.644A>C (p.Gln215Pro)
c.680A>C (p.Gln227Pro)
c.422A>C (p.Gln141Pro)
c.581A>C (p.Gln194Pro)
 gnomAD v4
15g.38349483A>GCA391932902SPRED1c.644A>G (p.Gln215Arg)
c.680A>G (p.Gln227Arg)
c.422A>G (p.Gln141Arg)
c.581A>G (p.Gln194Arg)
15g.38349483A>TCA391932903SPRED1c.644A>T (p.Gln215Leu)
c.680A>T (p.Gln227Leu)
c.422A>T (p.Gln141Leu)
c.581A>T (p.Gln194Leu)
15g.38349484A=CA2170811837SPRED1c.645A= (p.Gln215=)
c.681A= (p.Gln227=)
c.423A= (p.Gln141=)
c.582A= (p.Gln194=)
15g.38349484A>CCA269293278SPRED1c.645A>C (p.Gln215His)
c.681A>C (p.Gln227His)
c.423A>C (p.Gln141His)
c.582A>C (p.Gln194His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38349484A>GCA489922853SPRED1c.645A>G (p.Gln215=)
c.681A>G (p.Gln227=)
c.423A>G (p.Gln141=)
c.582A>G (p.Gln194=)
15g.38349484A>TCA391932904SPRED1c.645A>T (p.Gln215His)
c.681A>T (p.Gln227His)
c.423A>T (p.Gln141His)
c.582A>T (p.Gln194His)
15g.38349485A>CCA391932905SPRED1c.646A>C (p.Ile216Leu)
c.682A>C (p.Ile228Leu)
c.424A>C (p.Ile142Leu)
c.583A>C (p.Ile195Leu)
15g.38349485A>GCA391932906SPRED1c.646A>G (p.Ile216Val)
c.682A>G (p.Ile228Val)
c.424A>G (p.Ile142Val)
c.583A>G (p.Ile195Val)
15g.38349485A>TCA391932907SPRED1c.646A>T (p.Ile216Leu)
c.682A>T (p.Ile228Leu)
c.424A>T (p.Ile142Leu)
c.583A>T (p.Ile195Leu)
15g.38349486T>ACA391932910SPRED1c.647T>A (p.Ile216Lys)
c.683T>A (p.Ile228Lys)
c.425T>A (p.Ile142Lys)
c.584T>A (p.Ile195Lys)
15g.38349486T>CCA391932908SPRED1c.647T>C (p.Ile216Thr)
c.683T>C (p.Ile228Thr)
c.425T>C (p.Ile142Thr)
c.584T>C (p.Ile195Thr)
 gnomAD v4
15g.38349486T>GCA391932909SPRED1c.647T>G (p.Ile216Arg)
c.683T>G (p.Ile228Arg)
c.425T>G (p.Ile142Arg)
c.584T>G (p.Ile195Arg)
15g.38349487A>CCA489922855SPRED1c.648A>C (p.Ile216=)
c.684A>C (p.Ile228=)
c.426A>C (p.Ile142=)
c.585A>C (p.Ile195=)
15g.38349487A>GCA391932911SPRED1c.648A>G (p.Ile216Met)
c.684A>G (p.Ile228Met)
c.426A>G (p.Ile142Met)
c.585A>G (p.Ile195Met)
15g.38349487A>TCA489922854SPRED1c.648A>T (p.Ile216=)
c.684A>T (p.Ile228=)
c.426A>T (p.Ile142=)
c.585A>T (p.Ile195=)
15g.38349488T>ACA391932912SPRED1c.649T>A (p.Ser217Thr)
c.685T>A (p.Ser229Thr)
c.427T>A (p.Ser143Thr)
c.586T>A (p.Ser196Thr)
15g.38349488T>CCA391932913SPRED1c.649T>C (p.Ser217Pro)
c.685T>C (p.Ser229Pro)
c.427T>C (p.Ser143Pro)
c.586T>C (p.Ser196Pro)
 gnomAD v4
15g.38349488T>GCA391932914SPRED1c.649T>G (p.Ser217Ala)
c.685T>G (p.Ser229Ala)
c.427T>G (p.Ser143Ala)
c.586T>G (p.Ser196Ala)
 ClinVar gnomAD v4
15g.38349489C>ACA391932915SPRED1c.650C>A (p.Ser217Tyr)
c.686C>A (p.Ser229Tyr)
c.428C>A (p.Ser143Tyr)
c.587C>A (p.Ser196Tyr)
15g.38349489C=CA2170811838SPRED1c.650C= (p.Ser217=)
c.686C= (p.Ser229=)
c.428C= (p.Ser143=)
c.587C= (p.Ser196=)
15g.38349489C>GCA391932916SPRED1c.650C>G (p.Ser217Cys)
c.686C>G (p.Ser229Cys)
c.428C>G (p.Ser143Cys)
c.587C>G (p.Ser196Cys)
15g.38349489C>TCA391932917SPRED1c.650C>T (p.Ser217Phe)
c.686C>T (p.Ser229Phe)
c.428C>T (p.Ser143Phe)
c.587C>T (p.Ser196Phe)
 dbSNP
15g.38349490C>ACA489922856SPRED1c.651C>A (p.Ser217=)
c.687C>A (p.Ser229=)
c.429C>A (p.Ser143=)
c.588C>A (p.Ser196=)
15g.38349490C>GCA489922857SPRED1c.651C>G (p.Ser217=)
c.687C>G (p.Ser229=)
c.429C>G (p.Ser143=)
c.588C>G (p.Ser196=)
15g.38349490C>TCA489922858SPRED1c.651C>T (p.Ser217=)
c.687C>T (p.Ser229=)
c.429C>T (p.Ser143=)
c.588C>T (p.Ser196=)
15g.38349491A=CA2170811839SPRED1c.652A= (p.Lys218=)
c.688A= (p.Lys230=)
c.430A= (p.Lys144=)
c.589A= (p.Lys197=)
15g.38349491A>CCA391932918SPRED1c.652A>C (p.Lys218Gln)
c.688A>C (p.Lys230Gln)
c.430A>C (p.Lys144Gln)
c.589A>C (p.Lys197Gln)
15g.38349491A>GCA391932919SPRED1c.652A>G (p.Lys218Glu)
c.688A>G (p.Lys230Glu)
c.430A>G (p.Lys144Glu)
c.589A>G (p.Lys197Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38349491A>TCA391932920SPRED1c.652A>T (p.Lys218Ter)
c.688A>T (p.Lys230Ter)
c.430A>T (p.Lys144Ter)
c.589A>T (p.Lys197Ter)
15g.38349492A>CCA391932922SPRED1c.653A>C (p.Lys218Thr)
c.689A>C (p.Lys230Thr)
c.431A>C (p.Lys144Thr)
c.590A>C (p.Lys197Thr)
15g.38349492A>GCA391932923SPRED1c.653A>G (p.Lys218Arg)
c.689A>G (p.Lys230Arg)
c.431A>G (p.Lys144Arg)
c.590A>G (p.Lys197Arg)
15g.38349492A>TCA391932921SPRED1c.653A>T (p.Lys218Met)
c.689A>T (p.Lys230Met)
c.431A>T (p.Lys144Met)
c.590A>T (p.Lys197Met)
15g.38349493G>ACA489922859SPRED1c.654G>A (p.Lys218=)
c.690G>A (p.Lys230=)
c.432G>A (p.Lys144=)
c.591G>A (p.Lys197=)
15g.38349493G>CCA391932924SPRED1c.654G>C (p.Lys218Asn)
c.690G>C (p.Lys230Asn)
c.432G>C (p.Lys144Asn)
c.591G>C (p.Lys197Asn)
15g.38349493G>TCA391932925SPRED1c.654G>T (p.Lys218Asn)
c.690G>T (p.Lys230Asn)
c.432G>T (p.Lys144Asn)
c.591G>T (p.Lys197Asn)
 gnomAD v4
15g.38349494G>ACA391932926SPRED1c.655G>A (p.Glu219Lys)
c.691G>A (p.Glu231Lys)
c.433G>A (p.Glu145Lys)
c.592G>A (p.Glu198Lys)
15g.38349494G>CCA391932927SPRED1c.655G>C (p.Glu219Gln)
c.691G>C (p.Glu231Gln)
c.433G>C (p.Glu145Gln)
c.592G>C (p.Glu198Gln)
15g.38349494G>TCA391932928SPRED1c.655G>T (p.Glu219Ter)
c.691G>T (p.Glu231Ter)
c.433G>T (p.Glu145Ter)
c.592G>T (p.Glu198Ter)
15g.38349495A>CCA391932931SPRED1c.656A>C (p.Glu219Ala)
c.692A>C (p.Glu231Ala)
c.434A>C (p.Glu145Ala)
c.593A>C (p.Glu198Ala)
15g.38349495A>GCA391932929SPRED1c.656A>G (p.Glu219Gly)
c.692A>G (p.Glu231Gly)
c.434A>G (p.Glu145Gly)
c.593A>G (p.Glu198Gly)
15g.38349495A>TCA391932930SPRED1c.656A>T (p.Glu219Val)
c.692A>T (p.Glu231Val)
c.434A>T (p.Glu145Val)
c.593A>T (p.Glu198Val)
15g.38349496A>CCA391932932SPRED1c.657A>C (p.Glu219Asp)
c.693A>C (p.Glu231Asp)
c.435A>C (p.Glu145Asp)
c.594A>C (p.Glu198Asp)
 COSMIC
15g.38349496A>GCA489922861SPRED1c.657A>G (p.Glu219=)
c.693A>G (p.Glu231=)
c.435A>G (p.Glu145=)
c.594A>G (p.Glu198=)
15g.38349496A>TCA391932933SPRED1c.657A>T (p.Glu219Asp)
c.693A>T (p.Glu231Asp)
c.435A>T (p.Glu145Asp)
c.594A>T (p.Glu198Asp)
15g.38349497T>ACA391932934SPRED1c.658T>A (p.Cys220Ser)
c.694T>A (p.Cys232Ser)
c.436T>A (p.Cys146Ser)
c.595T>A (p.Cys199Ser)
15g.38349497T>CCA391932935SPRED1c.658T>C (p.Cys220Arg)
c.694T>C (p.Cys232Arg)
c.436T>C (p.Cys146Arg)
c.595T>C (p.Cys199Arg)
15g.38349497T>GCA391932936SPRED1c.658T>G (p.Cys220Gly)
c.694T>G (p.Cys232Gly)
c.436T>G (p.Cys146Gly)
c.595T>G (p.Cys199Gly)
15g.38349498G>ACA391932937SPRED1c.659G>A (p.Cys220Tyr)
c.695G>A (p.Cys232Tyr)
c.437G>A (p.Cys146Tyr)
c.596G>A (p.Cys199Tyr)
 ClinVar dbSNP gnomAD v4
15g.38349498G>CCA391932939SPRED1c.659G>C (p.Cys220Ser)
c.695G>C (p.Cys232Ser)
c.437G>C (p.Cys146Ser)
c.596G>C (p.Cys199Ser)
15g.38349498G=CA2170811840SPRED1c.659G= (p.Cys220=)
c.695G= (p.Cys232=)
c.437G= (p.Cys146=)
c.596G= (p.Cys199=)
15g.38349498G>TCA391932938SPRED1c.659G>T (p.Cys220Phe)
c.695G>T (p.Cys232Phe)
c.437G>T (p.Cys146Phe)
c.596G>T (p.Cys199Phe)
15g.38349499T>ACA391932940SPRED1c.660T>A (p.Cys220Ter)
c.696T>A (p.Cys232Ter)
c.438T>A (p.Cys146Ter)
c.597T>A (p.Cys199Ter)
15g.38349499T>CCA489922862SPRED1c.660T>C (p.Cys220=)
c.696T>C (p.Cys232=)
c.438T>C (p.Cys146=)
c.597T>C (p.Cys199=)
 dbSNP gnomAD v2 gnomAD v4
15g.38349499T>GCA391932941SPRED1c.660T>G (p.Cys220Trp)
c.696T>G (p.Cys232Trp)
c.438T>G (p.Cys146Trp)
c.597T>G (p.Cys199Trp)
15g.38349499T=CA2170811841SPRED1c.660T= (p.Cys220=)
c.696T= (p.Cys232=)
c.438T= (p.Cys146=)
c.597T= (p.Cys199=)
15g.38349500G>ACA391932942SPRED1c.661G>A (p.Gly221Arg)
c.697G>A (p.Gly233Arg)
c.439G>A (p.Gly147Arg)
c.598G>A (p.Gly200Arg)
15g.38349500G>CCA391932943SPRED1c.661G>C (p.Gly221Arg)
c.697G>C (p.Gly233Arg)
c.439G>C (p.Gly147Arg)
c.598G>C (p.Gly200Arg)
15g.38349500G>TCA391932944SPRED1c.661G>T (p.Gly221Ter)
c.697G>T (p.Gly233Ter)
c.439G>T (p.Gly147Ter)
c.598G>T (p.Gly200Ter)
15g.38349501G>ACA391932945SPRED1c.662G>A (p.Gly221Glu)
c.698G>A (p.Gly233Glu)
c.440G>A (p.Gly147Glu)
c.599G>A (p.Gly200Glu)
15g.38349501G>CCA391932946SPRED1c.662G>C (p.Gly221Ala)
c.698G>C (p.Gly233Ala)
c.440G>C (p.Gly147Ala)
c.599G>C (p.Gly200Ala)
15g.38349501G>TCA391932947SPRED1c.662G>T (p.Gly221Val)
c.698G>T (p.Gly233Val)
c.440G>T (p.Gly147Val)
c.599G>T (p.Gly200Val)
15g.38349502A=CA2170811842SPRED1c.663A= (p.Gly221=)
c.699A= (p.Gly233=)
c.441A= (p.Gly147=)
c.600A= (p.Gly200=)
15g.38349502A>CCA489922863SPRED1c.663A>C (p.Gly221=)
c.699A>C (p.Gly233=)
c.441A>C (p.Gly147=)
c.600A>C (p.Gly200=)
15g.38349502A>GCA7470146SPRED1c.663A>G (p.Gly221=)
c.699A>G (p.Gly233=)
c.441A>G (p.Gly147=)
c.600A>G (p.Gly200=)
 dbSNP ExAC gnomAD v2
15g.38349502A>TCA489922864SPRED1c.663A>T (p.Gly221=)
c.699A>T (p.Gly233=)
c.441A>T (p.Gly147=)
c.600A>T (p.Gly200=)
15g.38349503A>CCA391932948SPRED1c.664A>C (p.Ser222Arg)
c.700A>C (p.Ser234Arg)
c.442A>C (p.Ser148Arg)
c.601A>C (p.Ser201Arg)
15g.38349503A>GCA391932949SPRED1c.664A>G (p.Ser222Gly)
c.700A>G (p.Ser234Gly)
c.442A>G (p.Ser148Gly)
c.601A>G (p.Ser201Gly)
 gnomAD v4
15g.38349503A>TCA391932950SPRED1c.664A>T (p.Ser222Cys)
c.700A>T (p.Ser234Cys)
c.442A>T (p.Ser148Cys)
c.601A>T (p.Ser201Cys)
 gnomAD v4
15g.38349504G>ACA391932952SPRED1c.665G>A (p.Ser222Asn)
c.701G>A (p.Ser234Asn)
c.443G>A (p.Ser148Asn)
c.602G>A (p.Ser201Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38349504G>CCA391932953SPRED1c.665G>C (p.Ser222Thr)
c.701G>C (p.Ser234Thr)
c.443G>C (p.Ser148Thr)
c.602G>C (p.Ser201Thr)
15g.38349504G=CA2170811843SPRED1c.665G= (p.Ser222=)
c.701G= (p.Ser234=)
c.443G= (p.Ser148=)
c.602G= (p.Ser201=)
15g.38349504G>TCA391932951SPRED1c.665G>T (p.Ser222Ile)
c.701G>T (p.Ser234Ile)
c.443G>T (p.Ser148Ile)
c.602G>T (p.Ser201Ile)
15g.38349505C>ACA391932955SPRED1c.666C>A (p.Ser222Arg)
c.702C>A (p.Ser234Arg)
c.444C>A (p.Ser148Arg)
c.603C>A (p.Ser201Arg)
 ClinVar dbSNP gnomAD v4
15g.38349505C=CA2170811844SPRED1c.666C= (p.Ser222=)
c.702C= (p.Ser234=)
c.444C= (p.Ser148=)
c.603C= (p.Ser201=)
15g.38349505C>GCA391932954SPRED1c.666C>G (p.Ser222Arg)
c.702C>G (p.Ser234Arg)
c.444C>G (p.Ser148Arg)
c.603C>G (p.Ser201Arg)
15g.38349505C>TCA489922865SPRED1c.666C>T (p.Ser222=)
c.702C>T (p.Ser234=)
c.444C>T (p.Ser148=)
c.603C>T (p.Ser201=)
15g.38349506delCA658761271SPRED1c.667del (p.Leu223Ter)
c.703del (p.Leu235Ter)
c.445del (p.Leu149Ter)
c.604del (p.Leu202Ter)
15g.38349506C>ACA391932956SPRED1c.667C>A (p.Leu223Ile)
c.703C>A (p.Leu235Ile)
c.445C>A (p.Leu149Ile)
c.604C>A (p.Leu202Ile)
15g.38349506C>GCA391932957SPRED1c.667C>G (p.Leu223Val)
c.703C>G (p.Leu235Val)
c.445C>G (p.Leu149Val)
c.604C>G (p.Leu202Val)
15g.38349506C>TCA489922866SPRED1c.667C>T (p.Leu223=)
c.703C>T (p.Leu235=)
c.445C>T (p.Leu149=)
c.604C>T (p.Leu202=)
15g.38349507T>ACA269293279SPRED1c.668T>A (p.Leu223Gln)
c.704T>A (p.Leu235Gln)
c.446T>A (p.Leu149Gln)
c.605T>A (p.Leu202Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38349507T>CCA391932958SPRED1c.668T>C (p.Leu223Pro)
c.704T>C (p.Leu235Pro)
c.446T>C (p.Leu149Pro)
c.605T>C (p.Leu202Pro)
 gnomAD v4
15g.38349507T>GCA391932959SPRED1c.668T>G (p.Leu223Arg)
c.704T>G (p.Leu235Arg)
c.446T>G (p.Leu149Arg)
c.605T>G (p.Leu202Arg)
15g.38349507T=CA2170811845SPRED1c.668T= (p.Leu223=)
c.704T= (p.Leu235=)
c.446T= (p.Leu149=)
c.605T= (p.Leu202=)
15g.38349508A=CA2170811846SPRED1c.669A= (p.Leu223=)
c.705A= (p.Leu235=)
c.447A= (p.Leu149=)
c.606A= (p.Leu202=)
15g.38349508A>CCA489922867SPRED1c.669A>C (p.Leu223=)
c.705A>C (p.Leu235=)
c.447A>C (p.Leu149=)
c.606A>C (p.Leu202=)
 gnomAD v4
15g.38349508A>GCA7470147SPRED1c.669A>G (p.Leu223=)
c.705A>G (p.Leu235=)
c.447A>G (p.Leu149=)
c.606A>G (p.Leu202=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
15g.38349508A>TCA489922868SPRED1c.669A>T (p.Leu223=)
c.705A>T (p.Leu235=)
c.447A>T (p.Leu149=)
c.606A>T (p.Leu202=)
15g.38349509A>CCA391932960SPRED1c.670A>C (p.Lys224Gln)
c.706A>C (p.Lys236Gln)
c.448A>C (p.Lys150Gln)
c.607A>C (p.Lys203Gln)
15g.38349509A>GCA391932961SPRED1c.670A>G (p.Lys224Glu)
c.706A>G (p.Lys236Glu)
c.448A>G (p.Lys150Glu)
c.607A>G (p.Lys203Glu)
15g.38349509A>TCA391932962SPRED1c.670A>T (p.Lys224Ter)
c.706A>T (p.Lys236Ter)
c.448A>T (p.Lys150Ter)
c.607A>T (p.Lys203Ter)
15g.38349510A>CCA391932963SPRED1c.671A>C (p.Lys224Thr)
c.707A>C (p.Lys236Thr)
c.449A>C (p.Lys150Thr)
c.608A>C (p.Lys203Thr)
15g.38349510A>GCA391932964SPRED1c.671A>G (p.Lys224Arg)
c.707A>G (p.Lys236Arg)
c.449A>G (p.Lys150Arg)
c.608A>G (p.Lys203Arg)
15g.38349510A>TCA391932965SPRED1c.671A>T (p.Lys224Met)
c.707A>T (p.Lys236Met)
c.449A>T (p.Lys150Met)
c.608A>T (p.Lys203Met)
15g.38349511G>ACA489922869SPRED1c.672G>A (p.Lys224=)
c.708G>A (p.Lys236=)
c.450G>A (p.Lys150=)
c.609G>A (p.Lys203=)
15g.38349511G>CCA391932967SPRED1c.672G>C (p.Lys224Asn)
c.708G>C (p.Lys236Asn)
c.450G>C (p.Lys150Asn)
c.609G>C (p.Lys203Asn)
15g.38349511G>TCA391932966SPRED1c.672G>T (p.Lys224Asn)
c.708G>T (p.Lys236Asn)
c.450G>T (p.Lys150Asn)
c.609G>T (p.Lys203Asn)
15g.38349511_38349512delCA2525070131SPRED1c.672_673del (p.Lys224AsnfsTer4)
c.708_709del (p.Lys236AsnfsTer4)
c.450_451del (p.Lys150AsnfsTer4)
c.609_610del (p.Lys203AsnfsTer4)
15g.38349512delCA658761272SPRED1c.673del (p.Ser225ProfsTer7)
c.709del (p.Ser237ProfsTer7)
c.451del (p.Ser151ProfsTer7)
c.610del (p.Ser204ProfsTer7)
15g.38349512T>ACA391932968SPRED1c.673T>A (p.Ser225Thr)
c.709T>A (p.Ser237Thr)
c.451T>A (p.Ser151Thr)
c.610T>A (p.Ser204Thr)
15g.38349512T>CCA391932969SPRED1c.673T>C (p.Ser225Pro)
c.709T>C (p.Ser237Pro)
c.451T>C (p.Ser151Pro)
c.610T>C (p.Ser204Pro)
 dbSNP gnomAD v4
15g.38349512T>GCA391932970SPRED1c.673T>G (p.Ser225Ala)
c.709T>G (p.Ser237Ala)
c.451T>G (p.Ser151Ala)
c.610T>G (p.Ser204Ala)
 dbSNP gnomAD v2 gnomAD v4
15g.38349512T=CA2170811847SPRED1c.673T= (p.Ser225=)
c.709T= (p.Ser237=)
c.451T= (p.Ser151=)
c.610T= (p.Ser204=)
15g.38349513C>ACA391932971SPRED1c.674C>A (p.Ser225Tyr)
c.710C>A (p.Ser237Tyr)
c.452C>A (p.Ser151Tyr)
c.611C>A (p.Ser204Tyr)
15g.38349513C>GCA391932972SPRED1c.674C>G (p.Ser225Cys)
c.710C>G (p.Ser237Cys)
c.452C>G (p.Ser151Cys)
c.611C>G (p.Ser204Cys)
15g.38349513C>TCA391932973SPRED1c.674C>T (p.Ser225Phe)
c.710C>T (p.Ser237Phe)
c.452C>T (p.Ser151Phe)
c.611C>T (p.Ser204Phe)
15g.38349515delCA2575673287SPRED1c.676del (p.Gln226LysfsTer6)
c.712del (p.Gln238LysfsTer6)
c.454del (p.Gln152LysfsTer6)
c.613del (p.Gln205LysfsTer6)
15g.38349514C>ACA489922870SPRED1c.675C>A (p.Ser225=)
c.711C>A (p.Ser237=)
c.453C>A (p.Ser151=)
c.612C>A (p.Ser204=)
15g.38349514C=CA2170811848SPRED1c.675C= (p.Ser225=)
c.711C= (p.Ser237=)
c.453C= (p.Ser151=)
c.612C= (p.Ser204=)
15g.38349514C>GCA7470148SPRED1c.675C>G (p.Ser225=)
c.711C>G (p.Ser237=)
c.453C>G (p.Ser151=)
c.612C>G (p.Ser204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38349514C>TCA142281SPRED1c.675C>T (p.Ser225=)
c.711C>T (p.Ser237=)
c.453C>T (p.Ser151=)
c.612C>T (p.Ser204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38349515C>ACA391932974SPRED1c.676C>A (p.Gln226Lys)
c.712C>A (p.Gln238Lys)
c.454C>A (p.Gln152Lys)
c.613C>A (p.Gln205Lys)
15g.38349515C=CA2170811849SPRED1c.676C= (p.Gln226=)
c.712C= (p.Gln238=)
c.454C= (p.Gln152=)
c.613C= (p.Gln205=)
15g.38349515C>GCA391932975SPRED1c.676C>G (p.Gln226Glu)
c.712C>G (p.Gln238Glu)
c.454C>G (p.Gln152Glu)
c.613C>G (p.Gln205Glu)
15g.38349515C>TCA391932976SPRED1c.676C>T (p.Gln226Ter)
c.712C>T (p.Gln238Ter)
c.454C>T (p.Gln152Ter)
c.613C>T (p.Gln205Ter)
 ClinVar dbSNP COSMIC
15g.38349516A>CCA391932977SPRED1c.677A>C (p.Gln226Pro)
c.713A>C (p.Gln238Pro)
c.455A>C (p.Gln152Pro)
c.614A>C (p.Gln205Pro)
 ClinVar
15g.38349516A>GCA391932978SPRED1c.677A>G (p.Gln226Arg)
c.713A>G (p.Gln238Arg)
c.455A>G (p.Gln152Arg)
c.614A>G (p.Gln205Arg)
15g.38349516A>TCA391932979SPRED1c.677A>T (p.Gln226Leu)
c.713A>T (p.Gln238Leu)
c.455A>T (p.Gln152Leu)
c.614A>T (p.Gln205Leu)
15g.38349517A>CCA391932980SPRED1c.678A>C (p.Gln226His)
c.714A>C (p.Gln238His)
c.456A>C (p.Gln152His)
c.615A>C (p.Gln205His)
15g.38349517A>GCA489922871SPRED1c.678A>G (p.Gln226=)
c.714A>G (p.Gln238=)
c.456A>G (p.Gln152=)
c.615A>G (p.Gln205=)
15g.38349517A>TCA391932981SPRED1c.678A>T (p.Gln226His)
c.714A>T (p.Gln238His)
c.456A>T (p.Gln152His)
c.615A>T (p.Gln205His)
15g.38349518A>CCA391932982SPRED1c.679A>C (p.Asn227His)
c.715A>C (p.Asn239His)
c.457A>C (p.Asn153His)
c.616A>C (p.Asn206His)
15g.38349518A>GCA391932983SPRED1c.679A>G (p.Asn227Asp)
c.715A>G (p.Asn239Asp)
c.457A>G (p.Asn153Asp)
c.616A>G (p.Asn206Asp)
15g.38349518A>TCA391932984SPRED1c.679A>T (p.Asn227Tyr)
c.715A>T (p.Asn239Tyr)
c.457A>T (p.Asn153Tyr)
c.616A>T (p.Asn206Tyr)
15g.38349519A>CCA391932985SPRED1c.680A>C (p.Asn227Thr)
c.716A>C (p.Asn239Thr)
c.458A>C (p.Asn153Thr)
c.617A>C (p.Asn206Thr)
15g.38349519A>GCA391932986SPRED1c.680A>G (p.Asn227Ser)
c.716A>G (p.Asn239Ser)
c.458A>G (p.Asn153Ser)
c.617A>G (p.Asn206Ser)
15g.38349519A>TCA391932987SPRED1c.680A>T (p.Asn227Ile)
c.716A>T (p.Asn239Ile)
c.458A>T (p.Asn153Ile)
c.617A>T (p.Asn206Ile)
15g.38349520T>ACA391932988SPRED1c.681T>A (p.Asn227Lys)
c.717T>A (p.Asn239Lys)
c.459T>A (p.Asn153Lys)
c.618T>A (p.Asn206Lys)
15g.38349520T>CCA489922872SPRED1c.681T>C (p.Asn227=)
c.717T>C (p.Asn239=)
c.459T>C (p.Asn153=)
c.618T>C (p.Asn206=)
15g.38349520T>GCA391932989SPRED1c.681T>G (p.Asn227Lys)
c.717T>G (p.Asn239Lys)
c.459T>G (p.Asn153Lys)
c.618T>G (p.Asn206Lys)
15g.38349521A>CCA489922873SPRED1c.682A>C (p.Arg228=)
c.718A>C (p.Arg240=)
c.460A>C (p.Arg154=)
c.619A>C (p.Arg207=)
15g.38349521A>GCA391932990SPRED1c.682A>G (p.Arg228Gly)
c.718A>G (p.Arg240Gly)
c.460A>G (p.Arg154Gly)
c.619A>G (p.Arg207Gly)
15g.38349521A>TCA391932991SPRED1c.682A>T (p.Arg228Trp)
c.718A>T (p.Arg240Trp)
c.460A>T (p.Arg154Trp)
c.619A>T (p.Arg207Trp)
15g.38349522G>ACA269293280SPRED1c.683G>A (p.Arg228Lys)
c.719G>A (p.Arg240Lys)
c.461G>A (p.Arg154Lys)
c.620G>A (p.Arg207Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38349522G>CCA391932992SPRED1c.683G>C (p.Arg228Thr)
c.719G>C (p.Arg240Thr)
c.461G>C (p.Arg154Thr)
c.620G>C (p.Arg207Thr)
15g.38349522G=CA2170811850SPRED1c.683G= (p.Arg228=)
c.719G= (p.Arg240=)
c.461G= (p.Arg154=)
c.620G= (p.Arg207=)
15g.38349522G>TCA391932993SPRED1c.683G>T (p.Arg228Met)
c.719G>T (p.Arg240Met)
c.461G>T (p.Arg154Met)
c.620G>T (p.Arg207Met)
15g.38349523G>ACA489922874SPRED1c.684G>A (p.Arg228=)
c.720G>A (p.Arg240=)
c.462G>A (p.Arg154=)
c.621G>A (p.Arg207=)
15g.38349523G>CCA391932995SPRED1c.684G>C (p.Arg228Ser)
c.720G>C (p.Arg240Ser)
c.462G>C (p.Arg154Ser)
c.621G>C (p.Arg207Ser)
 dbSNP gnomAD v2 gnomAD v4
15g.38349523G=CA2170811851SPRED1c.684G= (p.Arg228=)
c.720G= (p.Arg240=)
c.462G= (p.Arg154=)
c.621G= (p.Arg207=)
15g.38349523G>TCA391932994SPRED1c.684G>T (p.Arg228Ser)
c.720G>T (p.Arg240Ser)
c.462G>T (p.Arg154Ser)
c.621G>T (p.Arg207Ser)
15g.38349524G>ACA7470149SPRED1c.684+1G>A (n.684+1G>A)
c.720+1G>A (n.720+1G>A)
c.462+1G>A (n.462+1G>A)
c.621+1G>A (n.621+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349524G>CCA391932996SPRED1c.684+1G>C (n.684+1G>C)
c.720+1G>C (n.720+1G>C)
c.462+1G>C (n.462+1G>C)
c.621+1G>C (n.621+1G>C)
15g.38349524G=CA2170811852SPRED1c.684+1G= (n.684+1G=)
c.720+1G= (n.720+1G=)
c.462+1G= (n.462+1G=)
c.621+1G= (n.621+1G=)
15g.38349524G>TCA391932997SPRED1c.684+1G>T (n.684+1G>T)
c.720+1G>T (n.720+1G>T)
c.462+1G>T (n.462+1G>T)
c.621+1G>T (n.621+1G>T)
 ClinVar
15g.38349525T>ACA391932998SPRED1c.684+2T>A (n.684+2T>A)
c.720+2T>A (n.720+2T>A)
c.462+2T>A (n.462+2T>A)
c.621+2T>A (n.621+2T>A)
15g.38349525T>CCA391932999SPRED1c.684+2T>C (n.684+2T>C)
c.720+2T>C (n.720+2T>C)
c.462+2T>C (n.462+2T>C)
c.621+2T>C (n.621+2T>C)
15g.38349525T>GCA391933000SPRED1c.684+2T>G (n.684+2T>G)
c.720+2T>G (n.720+2T>G)
c.462+2T>G (n.462+2T>G)
c.621+2T>G (n.621+2T>G)
 gnomAD v4
15g.38349526A>CCA2803806045SPRED1c.684+3A>C (n.684+3A>C)
c.720+3A>C (n.720+3A>C)
c.462+3A>C (n.462+3A>C)
c.621+3A>C (n.621+3A>C)
15g.38349526A>GCA2627716027SPRED1c.684+3A>G (n.684+3A>G)
c.720+3A>G (n.720+3A>G)
c.462+3A>G (n.462+3A>G)
c.621+3A>G (n.621+3A>G)
 gnomAD v4
15g.38349526A>TCA2627716026SPRED1c.684+3A>T (n.684+3A>T)
c.720+3A>T (n.720+3A>T)
c.462+3A>T (n.462+3A>T)
c.621+3A>T (n.621+3A>T)
 gnomAD v4
15g.38349527delCA2627716028SPRED1c.684+4del (n.684+4del)
c.720+4del (n.720+4del)
c.462+4del (n.462+4del)
c.621+4del (n.621+4del)
 gnomAD v4
15g.38349528G>ACA269293281SPRED1c.684+5G>A (n.684+5G>A)
c.720+5G>A (n.720+5G>A)
c.462+5G>A (n.462+5G>A)
c.621+5G>A (n.621+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38349528G=CA2170811853SPRED1c.684+5G= (n.684+5G=)
c.720+5G= (n.720+5G=)
c.462+5G= (n.462+5G=)
c.621+5G= (n.621+5G=)
15g.38349529T>CCA968817146SPRED1c.684+6T>C (n.684+6T>C)
c.720+6T>C (n.720+6T>C)
c.462+6T>C (n.462+6T>C)
c.621+6T>C (n.621+6T>C)
 dbSNP gnomAD v3 gnomAD v4
15g.38349529T=CA2170811854SPRED1c.684+6T= (n.684+6T=)
c.720+6T= (n.720+6T=)
c.462+6T= (n.462+6T=)
c.621+6T= (n.621+6T=)
15g.38349530A>TCA2627716029SPRED1c.684+7A>T (n.684+7A>T)
c.720+7A>T (n.720+7A>T)
c.462+7A>T (n.462+7A>T)
c.621+7A>T (n.621+7A>T)
 gnomAD v4
15g.38349531A=CA2170811855SPRED1c.684+8A= (n.684+8A=)
c.720+8A= (n.720+8A=)
c.462+8A= (n.462+8A=)
c.621+8A= (n.621+8A=)
15g.38349531A>GCA2627716031SPRED1c.684+8A>G (n.684+8A>G)
c.720+8A>G (n.720+8A>G)
c.462+8A>G (n.462+8A>G)
c.621+8A>G (n.621+8A>G)
 gnomAD v4
15g.38349531A>TCA617505702SPRED1c.684+8A>T (n.684+8A>T)
c.720+8A>T (n.720+8A>T)
c.462+8A>T (n.462+8A>T)
c.621+8A>T (n.621+8A>T)
 dbSNP gnomAD v2 gnomAD v4
15g.38349531_38349533delCA2627716030SPRED1c.684+8_684+10del (n.684+8_684+10del)
c.720+8_720+10del (n.720+8_720+10del)
c.462+8_462+10del (n.462+8_462+10del)
c.621+8_621+10del (n.621+8_621+10del)
 gnomAD v4
15g.38349532_38349536delinsTGTTACA2170811856SPRED1c.684+9_684+13delinsTGTTA (n.684+9_684+13delinsTGTTA)
c.720+9_720+13delinsTGTTA (n.720+9_720+13delinsTGTTA)
c.462+9_462+13delinsTGTTA (n.462+9_462+13delinsTGTTA)
c.621+9_621+13delinsTGTTA (n.621+9_621+13delinsTGTTA)
15g.38349533G>ACA658798299SPRED1c.684+10G>A (n.684+10G>A)
c.720+10G>A (n.720+10G>A)
c.462+10G>A (n.462+10G>A)
c.621+10G>A (n.621+10G>A)
 ClinVar dbSNP gnomAD v4
15g.38349533G=CA2170811857SPRED1c.684+10G= (n.684+10G=)
c.720+10G= (n.720+10G=)
c.462+10G= (n.462+10G=)
c.621+10G= (n.621+10G=)
15g.38349533G>TCA2627716032SPRED1c.684+10G>T (n.684+10G>T)
c.720+10G>T (n.720+10G>T)
c.462+10G>T (n.462+10G>T)
c.621+10G>T (n.621+10G>T)
 gnomAD v4
15g.38349536_38349539delCA919534781SPRED1c.684+13_684+16del (n.684+13_684+16del)
c.720+13_720+16del (n.720+13_720+16del)
c.462+13_462+16del (n.462+13_462+16del)
c.621+13_621+16del (n.621+13_621+16del)
 dbSNP
15g.38349534T>GCA2627716033SPRED1c.684+11T>G (n.684+11T>G)
c.720+11T>G (n.720+11T>G)
c.462+11T>G (n.462+11T>G)
c.621+11T>G (n.621+11T>G)
 gnomAD v4
15g.38349535T=CA2170811858SPRED1c.684+12T= (n.684+12T=)
c.720+12T= (n.720+12T=)
c.462+12T= (n.462+12T=)
c.621+12T= (n.621+12T=)
15g.38349536A=CA2170811859SPRED1c.684+13A= (n.684+13A=)
c.720+13A= (n.720+13A=)
c.462+13A= (n.462+13A=)
c.621+13A= (n.621+13A=)
15g.38349536A>GCA712613920SPRED1c.684+13A>G (n.684+13A>G)
c.720+13A>G (n.720+13A>G)
c.462+13A>G (n.462+13A>G)
c.621+13A>G (n.621+13A>G)
 ClinVar dbSNP gnomAD v4
15g.38349536_38349537insTCTAAAATACAAACACA617505703SPRED1c.684+13_684+14insTCTAAAATACAAACA (n.684+13_684+14insTCTAAAATACAAACA)
c.720+13_720+14insTCTAAAATACAAACA (n.720+13_720+14insTCTAAAATACAAACA)
c.462+13_462+14insTCTAAAATACAAACA (n.462+13_462+14insTCTAAAATACAAACA)
c.621+13_621+14insTCTAAAATACAAACA (n.621+13_621+14insTCTAAAATACAAACA)
 dbSNP gnomAD v2
15g.38349537G>ACA7470150SPRED1c.684+14G>A (n.684+14G>A)
c.720+14G>A (n.720+14G>A)
c.462+14G>A (n.462+14G>A)
c.621+14G>A (n.621+14G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349537G=CA2170811860SPRED1c.684+14G= (n.684+14G=)
c.720+14G= (n.720+14G=)
c.462+14G= (n.462+14G=)
c.621+14G= (n.621+14G=)
15g.38349538T>CCA2575673288SPRED1c.684+15T>C (n.684+15T>C)
c.720+15T>C (n.720+15T>C)
c.462+15T>C (n.462+15T>C)
c.621+15T>C (n.621+15T>C)
 gnomAD v4
15g.38349540delCA2551683063SPRED1c.684+17del (n.684+17del)
c.720+17del (n.720+17del)
c.462+17del (n.462+17del)
c.621+17del (n.621+17del)
 gnomAD v4
15g.38349543C>ACA2627716034SPRED1c.684+20C>A (n.684+20C>A)
c.720+20C>A (n.720+20C>A)
c.462+20C>A (n.462+20C>A)
c.621+20C>A (n.621+20C>A)
 gnomAD v4
15g.38349543C>GCA2627716035SPRED1c.684+20C>G (n.684+20C>G)
c.720+20C>G (n.720+20C>G)
c.462+20C>G (n.462+20C>G)
c.621+20C>G (n.621+20C>G)
 gnomAD v4
15g.38349544T>CCA2170811862SPRED1c.684+21T>C (n.684+21T>C)
c.720+21T>C (n.720+21T>C)
c.462+21T>C (n.462+21T>C)
c.621+21T>C (n.621+21T>C)
 dbSNP gnomAD v4
15g.38349544T=CA2170811861SPRED1c.684+21T= (n.684+21T=)
c.720+21T= (n.720+21T=)
c.462+21T= (n.462+21T=)
c.621+21T= (n.621+21T=)
15g.38349545T>ACA2627716036SPRED1c.684+22T>A (n.684+22T>A)
c.720+22T>A (n.720+22T>A)
c.462+22T>A (n.462+22T>A)
c.621+22T>A (n.621+22T>A)
 gnomAD v4
15g.38349546G>ACA2627716037SPRED1c.684+23G>A (n.684+23G>A)
c.720+23G>A (n.720+23G>A)
c.462+23G>A (n.462+23G>A)
c.621+23G>A (n.621+23G>A)
 gnomAD v4
15g.38349548G>ACA2627716038SPRED1c.684+25G>A (n.684+25G>A)
c.720+25G>A (n.720+25G>A)
c.462+25G>A (n.462+25G>A)
c.621+25G>A (n.621+25G>A)
 gnomAD v4
15g.38349548G>TCA2627716039SPRED1c.684+25G>T (n.684+25G>T)
c.720+25G>T (n.720+25G>T)
c.462+25G>T (n.462+25G>T)
c.621+25G>T (n.621+25G>T)
 gnomAD v4
15g.38349549A=CA2170811863SPRED1c.684+26A= (n.684+26A=)
c.720+26A= (n.720+26A=)
c.462+26A= (n.462+26A=)
c.621+26A= (n.621+26A=)
15g.38349549A>CCA7470151SPRED1c.684+26A>C (n.684+26A>C)
c.720+26A>C (n.720+26A>C)
c.462+26A>C (n.462+26A>C)
c.621+26A>C (n.621+26A>C)
 dbSNP ExAC gnomAD v2
15g.38349549A>GCA2627716040SPRED1c.684+26A>G (n.684+26A>G)
c.720+26A>G (n.720+26A>G)
c.462+26A>G (n.462+26A>G)
c.621+26A>G (n.621+26A>G)
 gnomAD v4
15g.38349550T>CCA2627716041SPRED1c.684+27T>C (n.684+27T>C)
c.720+27T>C (n.720+27T>C)
c.462+27T>C (n.462+27T>C)
c.621+27T>C (n.621+27T>C)
 gnomAD v4
15g.38349551A=CA2170811864SPRED1c.684+28A= (n.684+28A=)
c.720+28A= (n.720+28A=)
c.462+28A= (n.462+28A=)
c.621+28A= (n.621+28A=)
15g.38349551A>GCA2627716042SPRED1c.684+28A>G (n.684+28A>G)
c.720+28A>G (n.720+28A>G)
c.462+28A>G (n.462+28A>G)
c.621+28A>G (n.621+28A>G)
 gnomAD v4
15g.38349551A>TCA7470152SPRED1c.684+28A>T (n.684+28A>T)
c.720+28A>T (n.720+28A>T)
c.462+28A>T (n.462+28A>T)
c.621+28A>T (n.621+28A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349552T>CCA7470153SPRED1c.684+29T>C (n.684+29T>C)
c.720+29T>C (n.720+29T>C)
c.462+29T>C (n.462+29T>C)
c.621+29T>C (n.621+29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349552T=CA2170811865SPRED1c.684+29T= (n.684+29T=)
c.720+29T= (n.720+29T=)
c.462+29T= (n.462+29T=)
c.621+29T= (n.621+29T=)
15g.38349553G>ACA617505704SPRED1c.684+30G>A (n.684+30G>A)
c.720+30G>A (n.720+30G>A)
c.462+30G>A (n.462+30G>A)
c.621+30G>A (n.621+30G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.38349553G=CA2170811866SPRED1c.684+30G= (n.684+30G=)
c.720+30G= (n.720+30G=)
c.462+30G= (n.462+30G=)
c.621+30G= (n.621+30G=)
15g.38349553G>TCA2627716043SPRED1c.684+30G>T (n.684+30G>T)
c.720+30G>T (n.720+30G>T)
c.462+30G>T (n.462+30G>T)
c.621+30G>T (n.621+30G>T)
 gnomAD v4
15g.38349554G>ACA617505705SPRED1c.684+31G>A (n.684+31G>A)
c.720+31G>A (n.720+31G>A)
c.462+31G>A (n.462+31G>A)
c.621+31G>A (n.621+31G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.38349554G=CA2170811867SPRED1c.684+31G= (n.684+31G=)
c.720+31G= (n.720+31G=)
c.462+31G= (n.462+31G=)
c.621+31G= (n.621+31G=)
15g.38349555A=CA2170811868SPRED1c.684+32A= (n.684+32A=)
c.720+32A= (n.720+32A=)
c.462+32A= (n.462+32A=)
c.621+32A= (n.621+32A=)
15g.38349555A>TCA269293282SPRED1c.684+32A>T (n.684+32A>T)
c.720+32A>T (n.720+32A>T)
c.462+32A>T (n.462+32A>T)
c.621+32A>T (n.621+32A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38349558T>ACA2575673289SPRED1c.684+35T>A (n.684+35T>A)
c.720+35T>A (n.720+35T>A)
c.462+35T>A (n.462+35T>A)
c.621+35T>A (n.621+35T>A)
15g.38349559T>ACA2627716044SPRED1c.684+36T>A (n.684+36T>A)
c.720+36T>A (n.720+36T>A)
c.462+36T>A (n.462+36T>A)
c.621+36T>A (n.621+36T>A)
 gnomAD v4
15g.38349559T=CA2170811869SPRED1c.684+36T= (n.684+36T=)
c.720+36T= (n.720+36T=)
c.462+36T= (n.462+36T=)
c.621+36T= (n.621+36T=)
15g.38349559_38349560insGCA7470154SPRED1c.684+36_684+37insG (n.684+36_684+37insG)
c.720+36_720+37insG (n.720+36_720+37insG)
c.462+36_462+37insG (n.462+36_462+37insG)
c.621+36_621+37insG (n.621+36_621+37insG)
 dbSNP ExAC
15g.38349559_38349560insGATACTGCTGATGGCTGCACAATCTTGTGCA617505707SPRED1c.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTG)
c.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTG)
c.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTG)
c.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTG)
 gnomAD v2
15g.38349559_38349560insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTACA617505706SPRED1c.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA)
c.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA)
c.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA)
c.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA)
 gnomAD v2 gnomAD v4
15g.38349560A=CA2170811870SPRED1c.684+37A= (n.684+37A=)
c.720+37A= (n.720+37A=)
c.462+37A= (n.462+37A=)
c.621+37A= (n.621+37A=)
15g.38349560A>GCA617505709SPRED1c.684+37A>G (n.684+37A>G)
c.720+37A>G (n.720+37A>G)
c.462+37A>G (n.462+37A>G)
c.621+37A>G (n.621+37A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.38349560A>TCA617505708SPRED1c.684+37A>T (n.684+37A>T)
c.720+37A>T (n.720+37A>T)
c.462+37A>T (n.462+37A>T)
c.621+37A>T (n.621+37A>T)
 dbSNP gnomAD v2 gnomAD v4
15g.38349560_38349561insTCA7470155SPRED1c.684+37_684+38insT (n.684+37_684+38insT)
c.720+37_720+38insT (n.720+37_720+38insT)
c.462+37_462+38insT (n.462+37_462+38insT)
c.621+37_621+38insT (n.621+37_621+38insT)
 dbSNP ExAC
15g.38349561A>GCA617505710SPRED1c.684+38A>G (n.684+38A>G)
c.720+38A>G (n.720+38A>G)
c.462+38A>G (n.462+38A>G)
c.621+38A>G (n.621+38A>G)
 gnomAD v2 gnomAD v4
15g.38349561_38349562insTACTGCTGATGGCA617505711SPRED1c.684+38_684+39insTACTGCTGATGG (n.684+38_684+39insTACTGCTGATGG)
c.720+38_720+39insTACTGCTGATGG (n.720+38_720+39insTACTGCTGATGG)
c.462+38_462+39insTACTGCTGATGG (n.462+38_462+39insTACTGCTGATGG)
c.621+38_621+39insTACTGCTGATGG (n.621+38_621+39insTACTGCTGATGG)
 gnomAD v2
15g.38349562C>ACA2575673290SPRED1c.684+39C>A (n.684+39C>A)
c.720+39C>A (n.720+39C>A)
c.462+39C>A (n.462+39C>A)
c.621+39C>A (n.621+39C>A)
 gnomAD v4
15g.38349562C=CA2170811871SPRED1c.684+39C= (n.684+39C=)
c.720+39C= (n.720+39C=)
c.462+39C= (n.462+39C=)
c.621+39C= (n.621+39C=)
15g.38349563T>ACA617505712SPRED1c.684+40T>A (n.684+40T>A)
c.720+40T>A (n.720+40T>A)
c.462+40T>A (n.462+40T>A)
c.621+40T>A (n.621+40T>A)
 gnomAD v2 gnomAD v4
15g.38349563T>CCA2627716046SPRED1c.684+40T>C (n.684+40T>C)
c.720+40T>C (n.720+40T>C)
c.462+40T>C (n.462+40T>C)
c.621+40T>C (n.621+40T>C)
 gnomAD v4
15g.38349563T=CA2170811873SPRED1c.684+40T= (n.684+40T=)
c.720+40T= (n.720+40T=)
c.462+40T= (n.462+40T=)
c.621+40T= (n.621+40T=)
15g.38349563_38349564insTTTCA617505713SPRED1c.684+40_684+41insTTT (n.684+40_684+41insTTT)
c.720+40_720+41insTTT (n.720+40_720+41insTTT)
c.462+40_462+41insTTT (n.462+40_462+41insTTT)
c.621+40_621+41insTTT (n.621+40_621+41insTTT)
 dbSNP gnomAD v2
15g.38349563_38349564delinsTACA2170811872SPRED1c.684+40_684+41delinsTA (n.684+40_684+41delinsTA)
c.720+40_720+41delinsTA (n.720+40_720+41delinsTA)
c.462+40_462+41delinsTA (n.462+40_462+41delinsTA)
c.621+40_621+41delinsTA (n.621+40_621+41delinsTA)
15g.38349564_38349565insTTACA2627716045SPRED1c.684+41_684+42insTTA (n.684+41_684+42insTTA)
c.720+41_720+42insTTA (n.720+41_720+42insTTA)
c.462+41_462+42insTTA (n.462+41_462+42insTTA)
c.621+41_621+42insTTA (n.621+41_621+42insTTA)
 gnomAD v4
15g.38349563_38349564insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCACA7470156SPRED1c.684+40_684+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.684+40_684+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA)
c.720+40_720+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.720+40_720+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA)
c.462+40_462+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.462+40_462+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA)
c.621+40_621+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.621+40_621+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA)
 dbSNP ExAC
15g.38349564A=CA2170811874SPRED1c.684+41A= (n.684+41A=)
c.720+41A= (n.720+41A=)
c.462+41A= (n.462+41A=)
c.621+41A= (n.621+41A=)
15g.38349564A>TCA617505715SPRED1c.684+41A>T (n.684+41A>T)
c.720+41A>T (n.720+41A>T)
c.462+41A>T (n.462+41A>T)
c.621+41A>T (n.621+41A>T)
 dbSNP gnomAD v2
15g.38349565delCA617505714SPRED1c.684+42del (n.684+42del)
c.720+42del (n.720+42del)
c.462+42del (n.462+42del)
c.621+42del (n.621+42del)
 dbSNP gnomAD v2 gnomAD v4
15g.38349565A=CA2170811875SPRED1c.684+42A= (n.684+42A=)
c.720+42A= (n.720+42A=)
c.462+42A= (n.462+42A=)
c.621+42A= (n.621+42A=)
15g.38349565A>CCA2627716047SPRED1c.684+42A>C (n.684+42A>C)
c.720+42A>C (n.720+42A>C)
c.462+42A>C (n.462+42A>C)
c.621+42A>C (n.621+42A>C)
 gnomAD v4
15g.38349565A>GCA2627716048SPRED1c.684+42A>G (n.684+42A>G)
c.720+42A>G (n.720+42A>G)
c.462+42A>G (n.462+42A>G)
c.621+42A>G (n.621+42A>G)
 gnomAD v4
15g.38349565A>TCA617505716SPRED1c.684+42A>T (n.684+42A>T)
c.720+42A>T (n.720+42A>T)
c.462+42A>T (n.462+42A>T)
c.621+42A>T (n.621+42A>T)
 dbSNP gnomAD v2 gnomAD v4
15g.38349567dupCA2627716049SPRED1c.684+44dup (n.684+44dup)
c.720+44dup (n.720+44dup)
c.462+44dup (n.462+44dup)
c.621+44dup (n.621+44dup)
 gnomAD v4
15g.38349567T>ACA2575673291SPRED1c.684+44T>A (n.684+44T>A)
c.720+44T>A (n.720+44T>A)
c.462+44T>A (n.462+44T>A)
c.621+44T>A (n.621+44T>A)
 gnomAD v4
15g.38349567T>CCA2627716050SPRED1c.684+44T>C (n.684+44T>C)
c.720+44T>C (n.720+44T>C)
c.462+44T>C (n.462+44T>C)
c.621+44T>C (n.621+44T>C)
 gnomAD v4
15g.38349567T>GCA617505717SPRED1c.684+44T>G (n.684+44T>G)
c.720+44T>G (n.720+44T>G)
c.462+44T>G (n.462+44T>G)
c.621+44T>G (n.621+44T>G)
 dbSNP gnomAD v2
15g.38349567T=CA2170811876SPRED1c.684+44T= (n.684+44T=)
c.720+44T= (n.720+44T=)
c.462+44T= (n.462+44T=)
c.621+44T= (n.621+44T=)
15g.38349567_38349568insTAATAGTCA655988849SPRED1c.684+44_684+45insTAATAGT (n.684+44_684+45insTAATAGT)
c.720+44_720+45insTAATAGT (n.720+44_720+45insTAATAGT)
c.462+44_462+45insTAATAGT (n.462+44_462+45insTAATAGT)
c.621+44_621+45insTAATAGT (n.621+44_621+45insTAATAGT)
 COSMIC
15g.38349568A=CA2170811877SPRED1c.684+45A= (n.684+45A=)
c.720+45A= (n.720+45A=)
c.462+45A= (n.462+45A=)
c.621+45A= (n.621+45A=)
15g.38349568A>TCA7470157SPRED1c.684+45A>T (n.684+45A>T)
c.720+45A>T (n.720+45A>T)
c.462+45A>T (n.462+45A>T)
c.621+45A>T (n.621+45A>T)
 dbSNP ExAC
15g.38349569A=CA2170811878SPRED1c.684+46A= (n.684+46A=)
c.720+46A= (n.720+46A=)
c.462+46A= (n.462+46A=)
c.621+46A= (n.621+46A=)
15g.38349569A>CCA2627716051SPRED1c.684+46A>C (n.684+46A>C)
c.720+46A>C (n.720+46A>C)
c.462+46A>C (n.462+46A>C)
c.621+46A>C (n.621+46A>C)
 gnomAD v4
15g.38349569A>GCA7470158SPRED1c.684+46A>G (n.684+46A>G)
c.720+46A>G (n.720+46A>G)
c.462+46A>G (n.462+46A>G)
c.621+46A>G (n.621+46A>G)
 dbSNP ExAC gnomAD v4
15g.38349569A>TCA2627716052SPRED1c.684+46A>T (n.684+46A>T)
c.720+46A>T (n.720+46A>T)
c.462+46A>T (n.462+46A>T)
c.621+46A>T (n.621+46A>T)
 gnomAD v4
15g.38349569_38349570insCTATTAATCA2627716053SPRED1c.684+46_684+47insCTATTAAT (n.684+46_684+47insCTATTAAT)
c.720+46_720+47insCTATTAAT (n.720+46_720+47insCTATTAAT)
c.462+46_462+47insCTATTAAT (n.462+46_462+47insCTATTAAT)
c.621+46_621+47insCTATTAAT (n.621+46_621+47insCTATTAAT)
 gnomAD v4
15g.38349570T>CCA2627716054SPRED1c.684+47T>C (n.684+47T>C)
c.720+47T>C (n.720+47T>C)
c.462+47T>C (n.462+47T>C)
c.621+47T>C (n.621+47T>C)
 gnomAD v4
15g.38349570dupCA2627716055SPRED1c.684+47dup (n.684+47dup)
c.720+47dup (n.720+47dup)
c.462+47dup (n.462+47dup)
c.621+47dup (n.621+47dup)
 gnomAD v4
15g.38349570_38349571delinsTACA2170811879SPRED1c.684+47_684+48delinsTA (n.684+47_684+48delinsTA)
c.720+47_720+48delinsTA (n.720+47_720+48delinsTA)
c.462+47_462+48delinsTA (n.462+47_462+48delinsTA)
c.621+47_621+48delinsTA (n.621+47_621+48delinsTA)
15g.38349571delCA617505718SPRED1c.684+48del (n.684+48del)
c.720+48del (n.720+48del)
c.462+48del (n.462+48del)
c.621+48del (n.621+48del)
 dbSNP gnomAD v2
15g.38349571A>GCA2627716056SPRED1c.684+48A>G (n.684+48A>G)
c.720+48A>G (n.720+48A>G)
c.462+48A>G (n.462+48A>G)
c.621+48A>G (n.621+48A>G)
 gnomAD v4
15g.38349571_38349572delinsAGCA2170811880SPRED1c.684+48_684+49delinsAG (n.684+48_684+49delinsAG)
c.720+48_720+49delinsAG (n.720+48_720+49delinsAG)
c.462+48_462+49delinsAG (n.462+48_462+49delinsAG)
c.621+48_621+49delinsAG (n.621+48_621+49delinsAG)
15g.38349572delCA617505719SPRED1c.684+49del (n.684+49del)
c.720+49del (n.720+49del)
c.462+49del (n.462+49del)
c.621+49del (n.621+49del)
 dbSNP gnomAD v2 gnomAD v4
15g.38349572G>ACA269293283SPRED1c.684+49G>A (n.684+49G>A)
c.720+49G>A (n.720+49G>A)
c.462+49G>A (n.462+49G>A)
c.621+49G>A (n.621+49G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38349572G>CCA2730579996SPRED1c.684+49G>C (n.684+49G>C)
c.720+49G>C (n.720+49G>C)
c.462+49G>C (n.462+49G>C)
c.621+49G>C (n.621+49G>C)
 dbSNP
15g.38349572G=CA2170811881SPRED1c.684+49G= (n.684+49G=)
c.720+49G= (n.720+49G=)
c.462+49G= (n.462+49G=)
c.621+49G= (n.621+49G=)
15g.38349572G>TCA2627716057SPRED1c.684+49G>T (n.684+49G>T)
c.720+49G>T (n.720+49G>T)
c.462+49G>T (n.462+49G>T)
c.621+49G>T (n.621+49G>T)
 gnomAD v4
15g.38349572_38349573insTGCA2803806046SPRED1c.684+49_684+50insTG (n.684+49_684+50insTG)
c.720+49_720+50insTG (n.720+49_720+50insTG)
c.462+49_462+50insTG (n.462+49_462+50insTG)
c.621+49_621+50insTG (n.621+49_621+50insTG)
15g.38349572_38349573delinsGACA2170811883SPRED1c.684+49_684+50delinsGA (n.684+49_684+50delinsGA)
c.720+49_720+50delinsGA (n.720+49_720+50delinsGA)
c.462+49_462+50delinsGA (n.462+49_462+50delinsGA)
c.621+49_621+50delinsGA (n.621+49_621+50delinsGA)
15g.38349572_38349576delinsGATAGCA2170811882SPRED1c.684+49_684+53delinsGATAG (n.684+49_684+53delinsGATAG)
c.720+49_720+53delinsGATAG (n.720+49_720+53delinsGATAG)
c.462+49_462+53delinsGATAG (n.462+49_462+53delinsGATAG)
c.621+49_621+53delinsGATAG (n.621+49_621+53delinsGATAG)
15g.38349572_38349573insTCA2627716061SPRED1c.684+49_684+50insT (n.684+49_684+50insT)
c.720+49_720+50insT (n.720+49_720+50insT)
c.462+49_462+50insT (n.462+49_462+50insT)
c.621+49_621+50insT (n.621+49_621+50insT)
 gnomAD v4
15g.38349572_38349573insTCCA2627716060SPRED1c.684+49_684+50insTC (n.684+49_684+50insTC)
c.720+49_720+50insTC (n.720+49_720+50insTC)
c.462+49_462+50insTC (n.462+49_462+50insTC)
c.621+49_621+50insTC (n.621+49_621+50insTC)
 gnomAD v4
15g.38349572_38349573insTTCA7470159SPRED1c.684+49_684+50insTT (n.684+49_684+50insTT)
c.720+49_720+50insTT (n.720+49_720+50insTT)
c.462+49_462+50insTT (n.462+49_462+50insTT)
c.621+49_621+50insTT (n.621+49_621+50insTT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38349572_38349573insTTCCA2627716059SPRED1c.684+49_684+50insTTC (n.684+49_684+50insTTC)
c.720+49_720+50insTTC (n.720+49_720+50insTTC)
c.462+49_462+50insTTC (n.462+49_462+50insTTC)
c.621+49_621+50insTTC (n.621+49_621+50insTTC)
 gnomAD v4
15g.38349572_38349573insTTTCA2627716058SPRED1c.684+49_684+50insTTT (n.684+49_684+50insTTT)
c.720+49_720+50insTTT (n.720+49_720+50insTTT)
c.462+49_462+50insTTT (n.462+49_462+50insTTT)
c.621+49_621+50insTTT (n.621+49_621+50insTTT)
 gnomAD v4
15g.38349572_38349573insTTAACA7470160SPRED1c.684+49_684+50insTTAA (n.684+49_684+50insTTAA)
c.720+49_720+50insTTAA (n.720+49_720+50insTTAA)
c.462+49_462+50insTTAA (n.462+49_462+50insTTAA)
c.621+49_621+50insTTAA (n.621+49_621+50insTTAA)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349572_38349573insTTAAATTCA617505720SPRED1c.684+49_684+50insTTAAATT (n.684+49_684+50insTTAAATT)
c.720+49_720+50insTTAAATT (n.720+49_720+50insTTAAATT)
c.462+49_462+50insTTAAATT (n.462+49_462+50insTTAAATT)
c.621+49_621+50insTTAAATT (n.621+49_621+50insTTAAATT)
 dbSNP gnomAD v2 gnomAD v4
15g.38349572_38349573insTTAAATTACA391933001SPRED1c.684+49_684+50insTTAAATTA (n.684+49_684+50insTTAAATTA)
c.720+49_720+50insTTAAATTA (n.720+49_720+50insTTAAATTA)
c.462+49_462+50insTTAAATTA (n.462+49_462+50insTTAAATTA)
c.621+49_621+50insTTAAATTA (n.621+49_621+50insTTAAATTA)
 dbSNP gnomAD v4
15g.38349572_38349573insTTAAATTAGTAGTCA2741420533SPRED1c.684+49_684+50insTTAAATTAGTAGT (n.684+49_684+50insTTAAATTAGTAGT)
c.720+49_720+50insTTAAATTAGTAGT (n.720+49_720+50insTTAAATTAGTAGT)
c.462+49_462+50insTTAAATTAGTAGT (n.462+49_462+50insTTAAATTAGTAGT)
c.621+49_621+50insTTAAATTAGTAGT (n.621+49_621+50insTTAAATTAGTAGT)
15g.38349572_38349573insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTACA968817159SPRED1c.684+49_684+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA (n.684+49_684+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA)
c.720+49_720+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA (n.720+49_720+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA)
c.462+49_462+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA (n.462+49_462+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA)
c.621+49_621+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA (n.621+49_621+50insTAAAATTCCATATCACAAGATAAACTAACATTACTTACCCTATTAGTTTATCTTGTGATATGGAATTTAACTAATTA)
 gnomAD v3 gnomAD v4
15g.38349573delCA7470161SPRED1c.684+50del (n.684+50del)
c.720+50del (n.720+50del)
c.462+50del (n.462+50del)
c.621+50del (n.621+50del)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349573A=CA2170811884SPRED1c.684+50A= (n.684+50A=)
c.720+50A= (n.720+50A=)
c.462+50A= (n.462+50A=)
c.621+50A= (n.621+50A=)
15g.38349573A>GCA712613967SPRED1c.684+50A>G (n.684+50A>G)
c.720+50A>G (n.720+50A>G)
c.462+50A>G (n.462+50A>G)
c.621+50A>G (n.621+50A>G)
 dbSNP
15g.38349573A>TCA215456SPRED1c.684+50A>T (n.684+50A>T)
c.720+50A>T (n.720+50A>T)
c.462+50A>T (n.462+50A>T)
c.621+50A>T (n.621+50A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38349574_38349575insTAATCA919534795SPRED1c.684+51_684+52insTAAT (n.684+51_684+52insTAAT)
c.720+51_720+52insTAAT (n.720+51_720+52insTAAT)
c.462+51_462+52insTAAT (n.462+51_462+52insTAAT)
c.621+51_621+52insTAAT (n.621+51_621+52insTAAT)
 dbSNP
15g.38349573_38349576delinsTTAAATTAGTACA269293284SPRED1c.684+50_684+53delinsTTAAATTAGTA (n.684+50_684+53delinsTTAAATTAGTA)
c.720+50_720+53delinsTTAAATTAGTA (n.720+50_720+53delinsTTAAATTAGTA)
c.462+50_462+53delinsTTAAATTAGTA (n.462+50_462+53delinsTTAAATTAGTA)
c.621+50_621+53delinsTTAAATTAGTA (n.621+50_621+53delinsTTAAATTAGTA)
 dbSNP
15g.38349573_38349574insATCA2627716064SPRED1c.684+50_684+51insAT (n.684+50_684+51insAT)
c.720+50_720+51insAT (n.720+50_720+51insAT)
c.462+50_462+51insAT (n.462+50_462+51insAT)
c.621+50_621+51insAT (n.621+50_621+51insAT)
 gnomAD v4
15g.38349573_38349574insAACCA2627716066SPRED1c.684+50_684+51insAAC (n.684+50_684+51insAAC)
c.720+50_720+51insAAC (n.720+50_720+51insAAC)
c.462+50_462+51insAAC (n.462+50_462+51insAAC)
c.621+50_621+51insAAC (n.621+50_621+51insAAC)
 gnomAD v4
15g.38349573_38349574insAAGCA7470165SPRED1c.684+50_684+51insAAG (n.684+50_684+51insAAG)
c.720+50_720+51insAAG (n.720+50_720+51insAAG)
c.462+50_462+51insAAG (n.462+50_462+51insAAG)
c.621+50_621+51insAAG (n.621+50_621+51insAAG)
 dbSNP ExAC
15g.38349573_38349574insAATCA7470162SPRED1c.684+50_684+51insAAT (n.684+50_684+51insAAT)
c.720+50_720+51insAAT (n.720+50_720+51insAAT)
c.462+50_462+51insAAT (n.462+50_462+51insAAT)
c.621+50_621+51insAAT (n.621+50_621+51insAAT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38349573_38349574insAGTCA2627716065SPRED1c.684+50_684+51insAGT (n.684+50_684+51insAGT)
c.720+50_720+51insAGT (n.720+50_720+51insAGT)
c.462+50_462+51insAGT (n.462+50_462+51insAGT)
c.621+50_621+51insAGT (n.621+50_621+51insAGT)
 gnomAD v4
15g.38349573_38349574insATTCA2627716063SPRED1c.684+50_684+51insATT (n.684+50_684+51insATT)
c.720+50_720+51insATT (n.720+50_720+51insATT)
c.462+50_462+51insATT (n.462+50_462+51insATT)
c.621+50_621+51insATT (n.621+50_621+51insATT)
 gnomAD v4
15g.38349573_38349574insAAATCA2627716067SPRED1c.684+50_684+51insAAAT (n.684+50_684+51insAAAT)
c.720+50_720+51insAAAT (n.720+50_720+51insAAAT)
c.462+50_462+51insAAAT (n.462+50_462+51insAAAT)
c.621+50_621+51insAAAT (n.621+50_621+51insAAAT)
 gnomAD v4
15g.38349573_38349574insAATTAGCA7470163SPRED1c.684+50_684+51insAATTAG (n.684+50_684+51insAATTAG)
c.720+50_720+51insAATTAG (n.720+50_720+51insAATTAG)
c.462+50_462+51insAATTAG (n.462+50_462+51insAATTAG)
c.621+50_621+51insAATTAG (n.621+50_621+51insAATTAG)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38349574_38349575insTAAATTCA2558381633SPRED1c.684+51_684+52insTAAATT (n.684+51_684+52insTAAATT)
c.720+51_720+52insTAAATT (n.720+51_720+52insTAAATT)
c.462+51_462+52insTAAATT (n.462+51_462+52insTAAATT)
c.621+51_621+52insTAAATT (n.621+51_621+52insTAAATT)
 gnomAD v4
15g.38349574dupCA7470164SPRED1c.684+51dup (n.684+51dup)
c.720+51dup (n.720+51dup)
c.462+51dup (n.462+51dup)
c.621+51dup (n.621+51dup)
 dbSNP ExAC
15g.38349575_38349576insTTACA2627716062SPRED1c.684+52_684+53insTTA (n.684+52_684+53insTTA)
c.720+52_720+53insTTA (n.720+52_720+53insTTA)
c.462+52_462+53insTTA (n.462+52_462+53insTTA)
c.621+52_621+53insTTA (n.621+52_621+53insTTA)
 gnomAD v4
15g.38349574_38349577delinsTAGGCA2170811885SPRED1c.684+51_684+54delinsTAGG (n.684+51_684+54delinsTAGG)
c.720+51_720+54delinsTAGG (n.720+51_720+54delinsTAGG)
c.462+51_462+54delinsTAGG (n.462+51_462+54delinsTAGG)
c.621+51_621+54delinsTAGG (n.621+51_621+54delinsTAGG)
15g.38349574_38349575insGCA2627716068SPRED1c.684+51_684+52insG (n.684+51_684+52insG)
c.720+51_720+52insG (n.720+51_720+52insG)
c.462+51_462+52insG (n.462+51_462+52insG)
c.621+51_621+52insG (n.621+51_621+52insG)
 gnomAD v4
15g.38349575A=CA2170811886SPRED1c.684+52A= (n.684+52A=)
c.720+52A= (n.720+52A=)
c.462+52A= (n.462+52A=)
c.621+52A= (n.621+52A=)
15g.38349575A>TCA7470168SPRED1c.684+52A>T (n.684+52A>T)
c.720+52A>T (n.720+52A>T)
c.462+52A>T (n.462+52A>T)
c.621+52A>T (n.621+52A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349575dupCA2627716069SPRED1c.684+52dup (n.684+52dup)
c.720+52dup (n.720+52dup)
c.462+52dup (n.462+52dup)
c.621+52dup (n.621+52dup)
 gnomAD v4
15g.38349575_38349576delCA617505721SPRED1c.684+52_684+53del (n.684+52_684+53del)
c.720+52_720+53del (n.720+52_720+53del)
c.462+52_462+53del (n.462+52_462+53del)
c.621+52_621+53del (n.621+52_621+53del)
 gnomAD v2
15g.38349575_38349576delinsAGCA2170811887SPRED1c.684+52_684+53delinsAG (n.684+52_684+53delinsAG)
c.720+52_720+53delinsAG (n.720+52_720+53delinsAG)
c.462+52_462+53delinsAG (n.462+52_462+53delinsAG)
c.621+52_621+53delinsAG (n.621+52_621+53delinsAG)
15g.38349575_38349577delCA7470166SPRED1c.684+52_684+54del (n.684+52_684+54del)
c.720+52_720+54del (n.720+52_720+54del)
c.462+52_462+54del (n.462+52_462+54del)
c.621+52_621+54del (n.621+52_621+54del)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349575_38349578delinsAGGTCA2170811888SPRED1c.684+52_684+55delinsAGGT (n.684+52_684+55delinsAGGT)
c.720+52_720+55delinsAGGT (n.720+52_720+55delinsAGGT)
c.462+52_462+55delinsAGGT (n.462+52_462+55delinsAGGT)
c.621+52_621+55delinsAGGT (n.621+52_621+55delinsAGGT)
15g.38349575_38349576insTCA269293285SPRED1c.684+52_684+53insT (n.684+52_684+53insT)
c.720+52_720+53insT (n.720+52_720+53insT)
c.462+52_462+53insT (n.462+52_462+53insT)
c.621+52_621+53insT (n.621+52_621+53insT)
 dbSNP
15g.38349575_38349576insAATTACTCA7470169SPRED1c.684+52_684+53insAATTACT (n.684+52_684+53insAATTACT)
c.720+52_720+53insAATTACT (n.720+52_720+53insAATTACT)
c.462+52_462+53insAATTACT (n.462+52_462+53insAATTACT)
c.621+52_621+53insAATTACT (n.621+52_621+53insAATTACT)
 dbSNP ExAC gnomAD v2
15g.38349575_38349576insAATTAGTCA7470170SPRED1c.684+52_684+53insAATTAGT (n.684+52_684+53insAATTAGT)
c.720+52_720+53insAATTAGT (n.720+52_720+53insAATTAGT)
c.462+52_462+53insAATTAGT (n.462+52_462+53insAATTAGT)
c.621+52_621+53insAATTAGT (n.621+52_621+53insAATTAGT)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349576G>ACA269293287SPRED1c.684+53G>A (n.684+53G>A)
c.720+53G>A (n.720+53G>A)
c.462+53G>A (n.462+53G>A)
c.621+53G>A (n.621+53G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
15g.38349576G>CCA712613986SPRED1c.684+53G>C (n.684+53G>C)
c.720+53G>C (n.720+53G>C)
c.462+53G>C (n.462+53G>C)
c.621+53G>C (n.621+53G>C)
 dbSNP gnomAD v3 gnomAD v4
15g.38349576G=CA2170811889SPRED1c.684+53G= (n.684+53G=)
c.720+53G= (n.720+53G=)
c.462+53G= (n.462+53G=)
c.621+53G= (n.621+53G=)
15g.38349577delCA269293286SPRED1c.684+54del (n.684+54del)
c.720+54del (n.720+54del)
c.462+54del (n.462+54del)
c.621+54del (n.621+54del)
 dbSNP gnomAD v4
15g.38349576_38349578delCA7470167SPRED1c.684+53_684+55del (n.684+53_684+55del)
c.720+53_720+55del (n.720+53_720+55del)
c.462+53_462+55del (n.462+53_462+55del)
c.621+53_621+55del (n.621+53_621+55del)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.38349576_38349577insAACA2627716074SPRED1c.684+53_684+54insAA (n.684+53_684+54insAA)
c.720+53_720+54insAA (n.720+53_720+54insAA)
c.462+53_462+54insAA (n.462+53_462+54insAA)
c.621+53_621+54insAA (n.621+53_621+54insAA)
 gnomAD v4
15g.38349576_38349577insCACA2627716073SPRED1c.684+53_684+54insCA (n.684+53_684+54insCA)
c.720+53_720+54insCA (n.720+53_720+54insCA)
c.462+53_462+54insCA (n.462+53_462+54insCA)
c.621+53_621+54insCA (n.621+53_621+54insCA)
 gnomAD v4
15g.38349576_38349577insTACA269293288SPRED1c.684+53_684+54insTA (n.684+53_684+54insTA)
c.720+53_720+54insTA (n.720+53_720+54insTA)
c.462+53_462+54insTA (n.462+53_462+54insTA)
c.621+53_621+54insTA (n.621+53_621+54insTA)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38349576_38349577insTTCA2627716071SPRED1c.684+53_684+54insTT (n.684+53_684+54insTT)
c.720+53_720+54insTT (n.720+53_720+54insTT)
c.462+53_462+54insTT (n.462+53_462+54insTT)
c.621+53_621+54insTT (n.621+53_621+54insTT)
 gnomAD v4
15g.38349576_38349577insATTAGTACA919534799SPRED1c.684+53_684+54insATTAGTA (n.684+53_684+54insATTAGTA)
c.720+53_720+54insATTAGTA (n.720+53_720+54insATTAGTA)
c.462+53_462+54insATTAGTA (n.462+53_462+54insATTAGTA)
c.621+53_621+54insATTAGTA (n.621+53_621+54insATTAGTA)
 dbSNP gnomAD v3 gnomAD v4
15g.38349576_38349577insTTAAATTAGTACA968817166SPRED1c.684+53_684+54insTTAAATTAGTA (n.684+53_684+54insTTAAATTAGTA)
c.720+53_720+54insTTAAATTAGTA (n.720+53_720+54insTTAAATTAGTA)
c.462+53_462+54insTTAAATTAGTA (n.462+53_462+54insTTAAATTAGTA)
c.621+53_621+54insTTAAATTAGTA (n.621+53_621+54insTTAAATTAGTA)
 gnomAD v3 gnomAD v4
15g.38349577G>ACA269293289SPRED1c.684+54G>A (n.684+54G>A)
c.720+54G>A (n.720+54G>A)
c.462+54G>A (n.462+54G>A)
c.621+54G>A (n.621+54G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.38349577G=CA2170811891SPRED1c.684+54G= (n.684+54G=)
c.720+54G= (n.720+54G=)
c.462+54G= (n.462+54G=)
c.621+54G= (n.621+54G=)
15g.38349577G>TCA2627716070SPRED1c.684+54G>T (n.684+54G>T)
c.720+54G>T (n.720+54G>T)
c.462+54G>T (n.462+54G>T)
c.621+54G>T (n.621+54G>T)
 gnomAD v4
15g.38349577_38349578insAGCA2627716072SPRED1c.684+54_684+55insAG (n.684+54_684+55insAG)
c.720+54_720+55insAG (n.720+54_720+55insAG)
c.462+54_462+55insAG (n.462+54_462+55insAG)
c.621+54_621+55insAG (n.621+54_621+55insAG)
 gnomAD v4
15g.38349577_38349578delinsGTCA2170811890SPRED1c.684+54_684+55delinsGT (n.684+54_684+55delinsGT)
c.720+54_720+55delinsGT (n.720+54_720+55delinsGT)
c.462+54_462+55delinsGT (n.462+54_462+55delinsGT)
c.621+54_621+55delinsGT (n.621+54_621+55delinsGT)
15g.38349577_38349579dupCA2627716075SPRED1c.684+54_684+56dup (n.684+54_684+56dup)
c.720+54_720+56dup (n.720+54_720+56dup)
c.462+54_462+56dup (n.462+54_462+56dup)
c.621+54_621+56dup (n.621+54_621+56dup)
 gnomAD v4
15g.38349578delCA968817169SPRED1c.684+55del (n.684+55del)
c.720+55del (n.720+55del)
c.462+55del (n.462+55del)
c.621+55del (n.621+55del)
 dbSNP gnomAD v3 gnomAD v4
15g.38349578T>ACA2627716076SPRED1c.684+55T>A (n.684+55T>A)
c.720+55T>A (n.720+55T>A)
c.462+55T>A (n.462+55T>A)
c.621+55T>A (n.621+55T>A)
 gnomAD v4
15g.38349578T>CCA2627716077SPRED1c.684+55T>C (n.684+55T>C)
c.720+55T>C (n.720+55T>C)
c.462+55T>C (n.462+55T>C)
c.621+55T>C (n.621+55T>C)
 gnomAD v4
15g.38349578_38349579dupCA269293290SPRED1c.684+55_684+56dup (n.684+55_684+56dup)
c.720+55_720+56dup (n.720+55_720+56dup)
c.462+55_462+56dup (n.462+55_462+56dup)
c.621+55_621+56dup (n.621+55_621+56dup)
 dbSNP
15g.38349578_38349580delinsTAACA2170811892SPRED1c.684+55_684+57delinsTAA (n.684+55_684+57delinsTAA)
c.720+55_720+57delinsTAA (n.720+55_720+57delinsTAA)
c.462+55_462+57delinsTAA (n.462+55_462+57delinsTAA)
c.621+55_621+57delinsTAA (n.621+55_621+57delinsTAA)
15g.38349579A=CA2170811893SPRED1c.684+56A= (n.684+56A=)
c.720+56A= (n.720+56A=)
c.462+56A= (n.462+56A=)
c.621+56A= (n.621+56A=)
15g.38349579A>CCA2627716078SPRED1c.684+56A>C (n.684+56A>C)
c.720+56A>C (n.720+56A>C)
c.462+56A>C (n.462+56A>C)
c.621+56A>C (n.621+56A>C)
 gnomAD v4
15g.38349579A>GCA2627716079SPRED1c.684+56A>G (n.684+56A>G)
c.720+56A>G (n.720+56A>G)
c.462+56A>G (n.462+56A>G)
c.621+56A>G (n.621+56A>G)
 gnomAD v4
15g.38349579A>TCA617505758SPRED1c.684+56A>T (n.684+56A>T)
c.720+56A>T (n.720+56A>T)
c.462+56A>T (n.462+56A>T)
c.621+56A>T (n.621+56A>T)
 dbSNP gnomAD v2 gnomAD v4
15g.38349580_38349581delCA617505757SPRED1c.684+57_684+58del (n.684+57_684+58del)
c.720+57_720+58del (n.720+57_720+58del)
c.462+57_462+58del (n.462+57_462+58del)
c.621+57_621+58del (n.621+57_621+58del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38349580A=CA2170811894SPRED1c.684+57A= (n.684+57A=)
c.720+57A= (n.720+57A=)
c.462+57A= (n.462+57A=)
c.621+57A= (n.621+57A=)

Number of alleles fetched