Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15191788_15191833delinsATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGCA2324749845NOTCH3c.714_759delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp238=)
c.711_756delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp237=)
19g.15191795_15191839delCA340887NOTCH3c.714_758del (p.Asp239_Asp253del)
c.711_755del (p.Asp238_Asp252del)
 ClinVar dbSNP
19g.15191805dupCA632128097NOTCH3c.747dup (p.Thr250AspfsTer10)
c.744dup (p.Thr249AspfsTer10)
 dbSNP gnomAD v2 gnomAD v4
19g.15191805delCA506078746NOTCH3c.747del (p.Thr250HisfsTer?)
c.744del (p.Thr249HisfsTer?)
 COSMIC COSMIC
19g.15191801C>ACA404532548NOTCH3c.746G>T (p.Gly249Val)
c.743G>T (p.Gly248Val)
19g.15191801C>GCA404532549NOTCH3c.746G>C (p.Gly249Ala)
c.743G>C (p.Gly248Ala)
 dbSNP
19g.15191801C>TCA404532552NOTCH3c.746G>A (p.Gly249Glu)
c.743G>A (p.Gly248Glu)
 dbSNP
19g.15191802C>ACA404532560NOTCH3c.745G>T (p.Gly249Trp)
c.742G>T (p.Gly248Trp)
19g.15191802C=CA2324749853NOTCH3c.745G= (p.Gly249=)
c.742G= (p.Gly248=)
19g.15191802C>GCA404532562NOTCH3c.745G>C (p.Gly249Arg)
c.742G>C (p.Gly248Arg)
19g.15191802C>TCA305777548NOTCH3c.745G>A (p.Gly249Arg)
c.742G>A (p.Gly248Arg)
 dbSNP
19g.15191803C>ACA506078750NOTCH3c.744G>T (p.Gly248=)
c.741G>T (p.Gly247=)
19g.15191803C=CA2324749854NOTCH3c.744G= (p.Gly248=)
c.741G= (p.Gly247=)
19g.15191803C>GCA506078751NOTCH3c.744G>C (p.Gly248=)
c.741G>C (p.Gly247=)
19g.15191803C>TCA506078752NOTCH3c.744G>A (p.Gly248=)
c.741G>A (p.Gly247=)
 dbSNP gnomAD v2 gnomAD v4
19g.15191804C>ACA305777551NOTCH3c.743G>T (p.Gly248Val)
c.740G>T (p.Gly247Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191804C=CA2324749855NOTCH3c.743G= (p.Gly248=)
c.740G= (p.Gly247=)
19g.15191804C>GCA9263799NOTCH3c.743G>C (p.Gly248Ala)
c.740G>C (p.Gly247Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191804C>TCA404532564NOTCH3c.743G>A (p.Gly248Glu)
c.740G>A (p.Gly247Glu)
 dbSNP gnomAD v4
19g.15191804_15191805delinsATCA2580096673NOTCH3c.742_743delinsAT (p.Gly248Met)
c.739_740delinsAT (p.Gly247Met)
 ClinVar
19g.15191805C>ACA404532566NOTCH3c.742G>T (p.Gly248Trp)
c.739G>T (p.Gly247Trp)
19g.15191805C>GCA404532580NOTCH3c.742G>C (p.Gly248Arg)
c.739G>C (p.Gly247Arg)
 dbSNP
19g.15191805C>TCA404532577NOTCH3c.742G>A (p.Gly248Arg)
c.739G>A (p.Gly247Arg)
19g.15191806A=CA2324749856NOTCH3c.741T= (p.Asn247=)
c.738T= (p.Asn246=)
19g.15191806A>CCA404532582NOTCH3c.741T>G (p.Asn247Lys)
c.738T>G (p.Asn246Lys)
 ClinVar dbSNP
19g.15191806A>GCA506078756NOTCH3c.741T>C (p.Asn247=)
c.738T>C (p.Asn246=)
 dbSNP
19g.15191806A>TCA404532586NOTCH3c.741T>A (p.Asn247Lys)
c.738T>A (p.Asn246Lys)
19g.15191807T>ACA404532588NOTCH3c.740A>T (p.Asn247Ile)
c.737A>T (p.Asn246Ile)
19g.15191807T>CCA9263800NOTCH3c.740A>G (p.Asn247Ser)
c.737A>G (p.Asn246Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191807T>GCA404532591NOTCH3c.740A>C (p.Asn247Thr)
c.737A>C (p.Asn246Thr)
19g.15191807T=CA2324749857NOTCH3c.740A= (p.Asn247=)
c.737A= (p.Asn246=)
19g.15191808T>ACA404532592NOTCH3c.739A>T (p.Asn247Tyr)
c.736A>T (p.Asn246Tyr)
19g.15191808T>CCA404532595NOTCH3c.739A>G (p.Asn247Asp)
c.736A>G (p.Asn246Asp)
 gnomAD v4
19g.15191808T>GCA404532597NOTCH3c.739A>C (p.Asn247His)
c.736A>C (p.Asn246His)
 dbSNP gnomAD v4
19g.15191808T=CA2324749858NOTCH3c.739A= (p.Asn247=)
c.736A= (p.Asn246=)
19g.15191809G>ACA506078760NOTCH3c.738C>T (p.Leu246=)
c.735C>T (p.Leu245=)
 ClinVar dbSNP
19g.15191809G>CCA506078761NOTCH3c.738C>G (p.Leu246=)
c.735C>G (p.Leu245=)
19g.15191809G>TCA506078762NOTCH3c.738C>A (p.Leu246=)
c.735C>A (p.Leu245=)
 dbSNP
19g.15191810A>CCA404532600NOTCH3c.737T>G (p.Leu246Arg)
c.734T>G (p.Leu245Arg)
 dbSNP
19g.15191810A>GCA404532603NOTCH3c.737T>C (p.Leu246Pro)
c.734T>C (p.Leu245Pro)
 dbSNP
19g.15191810A>TCA404532604NOTCH3c.737T>A (p.Leu246His)
c.734T>A (p.Leu245His)
19g.15191811G>ACA404532613NOTCH3c.736C>T (p.Leu246Phe)
c.733C>T (p.Leu245Phe)
 COSMIC COSMIC
19g.15191811G>CCA404532610NOTCH3c.736C>G (p.Leu246Val)
c.733C>G (p.Leu245Val)
19g.15191811G>TCA404532606NOTCH3c.736C>A (p.Leu246Ile)
c.733C>A (p.Leu245Ile)
19g.15191812A>CCA404532615NOTCH3c.735T>G (p.Cys245Trp)
c.732T>G (p.Cys244Trp)
19g.15191812A>GCA506078766NOTCH3c.735T>C (p.Cys245=)
c.732T>C (p.Cys244=)
 dbSNP
19g.15191812A>TCA404532617NOTCH3c.735T>A (p.Cys245Ter)
c.732T>A (p.Cys244Ter)
19g.15191813C>ACA404532618NOTCH3c.734G>T (p.Cys245Phe)
c.731G>T (p.Cys244Phe)
19g.15191813C>GCA404532623NOTCH3c.734G>C (p.Cys245Ser)
c.731G>C (p.Cys244Ser)
19g.15191813C>TCA404532626NOTCH3c.734G>A (p.Cys245Tyr)
c.731G>A (p.Cys244Tyr)
19g.15191814A>CCA404532648NOTCH3c.733T>G (p.Cys245Gly)
c.730T>G (p.Cys244Gly)
19g.15191814A>GCA404532652NOTCH3c.733T>C (p.Cys245Arg)
c.730T>C (p.Cys244Arg)
 ClinVar dbSNP
19g.15191814A>TCA404532654NOTCH3c.733T>A (p.Cys245Ser)
c.730T>A (p.Cys244Ser)
19g.15191815T>ACA506078768NOTCH3c.732A>T (p.Arg244=)
c.729A>T (p.Arg243=)
19g.15191815T>CCA506078772NOTCH3c.732A>G (p.Arg244=)
c.729A>G (p.Arg243=)
19g.15191815T>GCA506078770NOTCH3c.732A>C (p.Arg244=)
c.729A>C (p.Arg243=)
19g.15191816C>ACA404532657NOTCH3c.731G>T (p.Arg244Leu)
c.728G>T (p.Arg243Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.15191816C=CA2324749859NOTCH3c.731G= (p.Arg244=)
c.728G= (p.Arg243=)
19g.15191816C>GCA404532660NOTCH3c.731G>C (p.Arg244Pro)
c.728G>C (p.Arg243Pro)
19g.15191816C>TCA9263801NOTCH3c.731G>A (p.Arg244Gln)
c.728G>A (p.Arg243Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191817G>ACA404532670NOTCH3c.730C>T (p.Arg244Ter)
c.727C>T (p.Arg243Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15191817G>CCA404532672NOTCH3c.730C>G (p.Arg244Gly)
c.727C>G (p.Arg243Gly)
19g.15191817G=CA2324749860NOTCH3c.730C= (p.Arg244=)
c.727C= (p.Arg243=)
19g.15191817G>TCA506078773NOTCH3c.730C>A (p.Arg244=)
c.727C>A (p.Arg243=)
 dbSNP
19g.15191818G>ACA506078774NOTCH3c.729C>T (p.His243=)
c.726C>T (p.His242=)
 gnomAD v4
19g.15191818G>CCA404532679NOTCH3c.729C>G (p.His243Gln)
c.726C>G (p.His242Gln)
19g.15191818G>TCA404532676NOTCH3c.729C>A (p.His243Gln)
c.726C>A (p.His242Gln)
19g.15191819T>ACA404532682NOTCH3c.728A>T (p.His243Leu)
c.725A>T (p.His242Leu)
19g.15191819T>CCA404532684NOTCH3c.728A>G (p.His243Arg)
c.725A>G (p.His242Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15191819T>GCA404532683NOTCH3c.728A>C (p.His243Pro)
c.725A>C (p.His242Pro)
 dbSNP
19g.15191819T=CA2324749861NOTCH3c.728A= (p.His243=)
c.725A= (p.His242=)
19g.15191820G>ACA9263802NOTCH3c.727C>T (p.His243Tyr)
c.724C>T (p.His242Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191820G>CCA404532688NOTCH3c.727C>G (p.His243Asp)
c.724C>G (p.His242Asp)
19g.15191820G=CA2324749862NOTCH3c.727C= (p.His243=)
c.724C= (p.His242=)
19g.15191820G>TCA404532687NOTCH3c.727C>A (p.His243Asn)
c.724C>A (p.His242Asn)
19g.15191821T>ACA506078776NOTCH3c.726A>T (p.Gly242=)
c.723A>T (p.Gly241=)
19g.15191821T>CCA506078778NOTCH3c.726A>G (p.Gly242=)
c.723A>G (p.Gly241=)
 dbSNP
19g.15191821T>GCA506078777NOTCH3c.726A>C (p.Gly242=)
c.723A>C (p.Gly241=)
19g.15191822C>ACA404532691NOTCH3c.725G>T (p.Gly242Val)
c.722G>T (p.Gly241Val)
 dbSNP
19g.15191822C=CA2324749863NOTCH3c.725G= (p.Gly242=)
c.722G= (p.Gly241=)
19g.15191822C>GCA404532694NOTCH3c.725G>C (p.Gly242Ala)
c.722G>C (p.Gly241Ala)
 dbSNP
19g.15191822C>TCA404532695NOTCH3c.725G>A (p.Gly242Glu)
c.722G>A (p.Gly241Glu)
 dbSNP
19g.15191823C>ACA404532699NOTCH3c.724G>T (p.Gly242Ter)
c.721G>T (p.Gly241Ter)
19g.15191823C=CA2324749864NOTCH3c.724G= (p.Gly242=)
c.721G= (p.Gly241=)
19g.15191823C>GCA404532708NOTCH3c.724G>C (p.Gly242Arg)
c.721G>C (p.Gly241Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15191823C>TCA404532710NOTCH3c.724G>A (p.Gly242Arg)
c.721G>A (p.Gly241Arg)
19g.15191824T>ACA506078779NOTCH3c.723A>T (p.Pro241=)
c.720A>T (p.Pro240=)
19g.15191824T>CCA506078780NOTCH3c.723A>G (p.Pro241=)
c.720A>G (p.Pro240=)
 dbSNP gnomAD v4
19g.15191824T>GCA506078781NOTCH3c.723A>C (p.Pro241=)
c.720A>C (p.Pro240=)
19g.15191825G>ACA404532714NOTCH3c.722C>T (p.Pro241Leu)
c.719C>T (p.Pro240Leu)
19g.15191825G>CCA404532718NOTCH3c.722C>G (p.Pro241Arg)
c.719C>G (p.Pro240Arg)
19g.15191825G>TCA404532722NOTCH3c.722C>A (p.Pro241Gln)
c.719C>A (p.Pro240Gln)
19g.15191826G>ACA404532724NOTCH3c.721C>T (p.Pro241Ser)
c.718C>T (p.Pro240Ser)
19g.15191826G>CCA404532725NOTCH3c.721C>G (p.Pro241Ala)
c.718C>G (p.Pro240Ala)
19g.15191826G>TCA404532726NOTCH3c.721C>A (p.Pro241Thr)
c.718C>A (p.Pro240Thr)
19g.15191827A>CCA404532733NOTCH3c.720T>G (p.Cys240Trp)
c.717T>G (p.Cys239Trp)
19g.15191827A>GCA506078782NOTCH3c.720T>C (p.Cys240=)
c.717T>C (p.Cys239=)
19g.15191827A>TCA404532730NOTCH3c.720T>A (p.Cys240Ter)
c.717T>A (p.Cys239Ter)
 gnomAD v4
19g.15191828C>ACA404532736NOTCH3c.719G>T (p.Cys240Phe)
c.716G>T (p.Cys239Phe)
19g.15191828C=CA2324749865NOTCH3c.719G= (p.Cys240=)
c.716G= (p.Cys239=)
19g.15191828C>GCA404532739NOTCH3c.719G>C (p.Cys240Ser)
c.716G>C (p.Cys239Ser)
19g.15191828C>TCA404532746NOTCH3c.719G>A (p.Cys240Tyr)
c.716G>A (p.Cys239Tyr)
 ClinVar dbSNP
19g.15191829A>CCA404532748NOTCH3c.718T>G (p.Cys240Gly)
c.715T>G (p.Cys239Gly)
19g.15191829A>GCA404532750NOTCH3c.718T>C (p.Cys240Arg)
c.715T>C (p.Cys239Arg)
19g.15191829A>TCA404532752NOTCH3c.718T>A (p.Cys240Ser)
c.715T>A (p.Cys239Ser)
19g.15191830G>ACA506078783NOTCH3c.717C>T (p.Asp239=)
c.714C>T (p.Asp238=)
19g.15191830G>CCA404532754NOTCH3c.717C>G (p.Asp239Glu)
c.714C>G (p.Asp238Glu)
 dbSNP
19g.15191830G>TCA404532755NOTCH3c.717C>A (p.Asp239Glu)
c.714C>A (p.Asp238Glu)
19g.15191831T>ACA404532756NOTCH3c.716A>T (p.Asp239Val)
c.713A>T (p.Asp238Val)
 dbSNP gnomAD v4
19g.15191831T>CCA404532758NOTCH3c.716A>G (p.Asp239Gly)
c.713A>G (p.Asp238Gly)
19g.15191831T>GCA404532760NOTCH3c.716A>C (p.Asp239Ala)
c.713A>C (p.Asp238Ala)
19g.15191832C>ACA404532765NOTCH3c.715G>T (p.Asp239Tyr)
c.712G>T (p.Asp238Tyr)
 gnomAD v4
19g.15191832C=CA2324749866NOTCH3c.715G= (p.Asp239=)
c.712G= (p.Asp238=)
19g.15191832C>GCA9263804NOTCH3c.715G>C (p.Asp239His)
c.712G>C (p.Asp238His)
 dbSNP ExAC gnomAD v2
19g.15191832C>TCA9263803NOTCH3c.715G>A (p.Asp239Asn)
c.712G>A (p.Asp238Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191833G>ACA9263805NOTCH3c.714C>T (p.Asp238=)
c.711C>T (p.Asp237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191833G>CCA404532768NOTCH3c.714C>G (p.Asp238Glu)
c.711C>G (p.Asp237Glu)
19g.15191833G=CA2324749867NOTCH3c.714C= (p.Asp238=)
c.711C= (p.Asp237=)
19g.15191833G>TCA404532773NOTCH3c.714C>A (p.Asp238Glu)
c.711C>A (p.Asp237Glu)
19g.15191834T>ACA404532777NOTCH3c.713A>T (p.Asp238Val)
c.710A>T (p.Asp237Val)
19g.15191834T>CCA404532779NOTCH3c.713A>G (p.Asp238Gly)
c.710A>G (p.Asp237Gly)
19g.15191834T>GCA404532781NOTCH3c.713A>C (p.Asp238Ala)
c.710A>C (p.Asp237Ala)
 dbSNP
19g.15191835C>ACA404532783NOTCH3c.712G>T (p.Asp238Tyr)
c.709G>T (p.Asp237Tyr)
 gnomAD v4
19g.15191835C=CA2324749868NOTCH3c.712G= (p.Asp238=)
c.709G= (p.Asp237=)
19g.15191835C>GCA404532785NOTCH3c.712G>C (p.Asp238His)
c.709G>C (p.Asp237His)
 dbSNP
19g.15191835C>TCA305777599NOTCH3c.712G>A (p.Asp238Asn)
c.709G>A (p.Asp237Asn)
 dbSNP gnomAD v4
19g.15191836C>ACA506078784NOTCH3c.711G>T (p.Val237=)
c.708G>T (p.Val236=)
19g.15191836C>GCA506078786NOTCH3c.711G>C (p.Val237=)
c.708G>C (p.Val236=)
 dbSNP
19g.15191836C>TCA506078785NOTCH3c.711G>A (p.Val237=)
c.708G>A (p.Val236=)
 dbSNP
19g.15191837A>CCA404532788NOTCH3c.710T>G (p.Val237Gly)
c.707T>G (p.Val236Gly)
19g.15191837A>GCA404532790NOTCH3c.710T>C (p.Val237Ala)
c.707T>C (p.Val236Ala)
19g.15191837A>TCA404532792NOTCH3c.710T>A (p.Val237Glu)
c.707T>A (p.Val236Glu)
19g.15191838C>ACA404532798NOTCH3c.709G>T (p.Val237Leu)
c.706G>T (p.Val236Leu)
 ClinVar dbSNP
19g.15191838C=CA2324749869NOTCH3c.709G= (p.Val237=)
c.706G= (p.Val236=)
19g.15191838C>GCA404532796NOTCH3c.709G>C (p.Val237Leu)
c.706G>C (p.Val236Leu)
19g.15191838C>TCA9263806NOTCH3c.709G>A (p.Val237Met)
c.706G>A (p.Val236Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191839G>ACA9263807NOTCH3c.708C>T (p.Asn236=)
c.705C>T (p.Asn235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191839G>CCA404532801NOTCH3c.708C>G (p.Asn236Lys)
c.705C>G (p.Asn235Lys)
19g.15191839G=CA2324749870NOTCH3c.708C= (p.Asn236=)
c.705C= (p.Asn235=)
19g.15191839G>TCA404532803NOTCH3c.708C>A (p.Asn236Lys)
c.705C>A (p.Asn235Lys)
19g.15191840T>ACA404532806NOTCH3c.707A>T (p.Asn236Ile)
c.704A>T (p.Asn235Ile)
19g.15191840T>CCA404532808NOTCH3c.707A>G (p.Asn236Ser)
c.704A>G (p.Asn235Ser)
19g.15191840T>GCA404532809NOTCH3c.707A>C (p.Asn236Thr)
c.704A>C (p.Asn235Thr)
19g.15191841T>ACA404532813NOTCH3c.706A>T (p.Asn236Tyr)
c.703A>T (p.Asn235Tyr)
19g.15191841T>CCA404532815NOTCH3c.706A>G (p.Asn236Asp)
c.703A>G (p.Asn235Asp)
 dbSNP
19g.15191841T>GCA404532817NOTCH3c.706A>C (p.Asn236His)
c.703A>C (p.Asn235His)
19g.15191842C>ACA506078787NOTCH3c.705G>T (p.Val235=)
c.702G>T (p.Val234=)
 gnomAD v4
19g.15191842C>GCA506078789NOTCH3c.705G>C (p.Val235=)
c.702G>C (p.Val234=)
19g.15191842C>TCA506078788NOTCH3c.705G>A (p.Val235=)
c.702G>A (p.Val234=)
19g.15191843A>CCA404532820NOTCH3c.704T>G (p.Val235Gly)
c.701T>G (p.Val234Gly)
19g.15191843A>GCA404532823NOTCH3c.704T>C (p.Val235Ala)
c.701T>C (p.Val234Ala)
19g.15191843A>TCA404532824NOTCH3c.704T>A (p.Val235Glu)
c.701T>A (p.Val234Glu)
19g.15191844C>ACA404532835NOTCH3c.703G>T (p.Val235Leu)
c.700G>T (p.Val234Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.15191844C=CA2324749871NOTCH3c.703G= (p.Val235=)
c.700G= (p.Val234=)
19g.15191844C>GCA404532828NOTCH3c.703G>C (p.Val235Leu)
c.700G>C (p.Val234Leu)
19g.15191844C>TCA404532826NOTCH3c.703G>A (p.Val235Met)
c.700G>A (p.Val234Met)
19g.15191845T>ACA404532838NOTCH3c.702A>T (p.Glu234Asp)
c.699A>T (p.Glu233Asp)
19g.15191845T>CCA506078790NOTCH3c.702A>G (p.Glu234=)
c.699A>G (p.Glu233=)
 gnomAD v4
19g.15191845T>GCA9263808NOTCH3c.702A>C (p.Glu234Asp)
c.699A>C (p.Glu233Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191845T=CA2324749872NOTCH3c.702A= (p.Glu234=)
c.699A= (p.Glu233=)
19g.15191846T>ACA404532857NOTCH3c.701A>T (p.Glu234Val)
c.698A>T (p.Glu233Val)
19g.15191846T>CCA404532858NOTCH3c.701A>G (p.Glu234Gly)
c.698A>G (p.Glu233Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.15191846T>GCA404532859NOTCH3c.701A>C (p.Glu234Ala)
c.698A>C (p.Glu233Ala)
19g.15191846T=CA2324749873NOTCH3c.701A= (p.Glu234=)
c.698A= (p.Glu233=)
19g.15191847C>ACA404532862NOTCH3c.700G>T (p.Glu234Ter)
c.697G>T (p.Glu233Ter)
19g.15191847C>GCA404532863NOTCH3c.700G>C (p.Glu234Gln)
c.697G>C (p.Glu233Gln)
19g.15191847C>TCA404532864NOTCH3c.700G>A (p.Glu234Lys)
c.697G>A (p.Glu233Lys)
 dbSNP gnomAD v4
19g.15191848A>CCA404532867NOTCH3c.699T>G (p.Cys233Trp)
c.696T>G (p.Cys232Trp)
 ClinVar
19g.15191848A>GCA506078791NOTCH3c.699T>C (p.Cys233=)
c.696T>C (p.Cys232=)
 gnomAD v4
19g.15191848A>TCA404532868NOTCH3c.699T>A (p.Cys233Ter)
c.696T>A (p.Cys232Ter)
19g.15191849C>ACA404532870NOTCH3c.698G>T (p.Cys233Phe)
c.695G>T (p.Cys232Phe)
19g.15191849C>GCA404532871NOTCH3c.698G>C (p.Cys233Ser)
c.695G>C (p.Cys232Ser)
 dbSNP
19g.15191849C>TCA404532873NOTCH3c.698G>A (p.Cys233Tyr)
c.695G>A (p.Cys232Tyr)
 ClinVar dbSNP
19g.15191850A>CCA404532878NOTCH3c.697T>G (p.Cys233Gly)
c.694T>G (p.Cys232Gly)
19g.15191850A>GCA404532879NOTCH3c.697T>C (p.Cys233Arg)
c.694T>C (p.Cys232Arg)
19g.15191850A>TCA404532880NOTCH3c.697T>A (p.Cys233Ser)
c.694T>A (p.Cys232Ser)
19g.15191850_15191851insCACCAACCCCCAAACACACCCAACACCA2813728455NOTCH3c.696_697insGTGTTGGGTGTGTTTGGGGGTTGGTG (p.Cys233ValfsTer12)
c.693_694insGTGTTGGGTGTGTTTGGGGGTTGGTG (p.Cys232ValfsTer12)
19g.15191851A=CA2324749874NOTCH3c.696T= (p.Asn232=)
c.693T= (p.Asn231=)
19g.15191851A>CCA404532881NOTCH3c.696T>G (p.Asn232Lys)
c.693T>G (p.Asn231Lys)
19g.15191851A>GCA506078792NOTCH3c.696T>C (p.Asn232=)
c.693T>C (p.Asn231=)
 dbSNP gnomAD v4
19g.15191851A>TCA404532884NOTCH3c.696T>A (p.Asn232Lys)
c.693T>A (p.Asn231Lys)
19g.15191852T>ACA404532886NOTCH3c.695A>T (p.Asn232Ile)
c.692A>T (p.Asn231Ile)
19g.15191852T>CCA404532888NOTCH3c.695A>G (p.Asn232Ser)
c.692A>G (p.Asn231Ser)
19g.15191852T>GCA404532892NOTCH3c.695A>C (p.Asn232Thr)
c.692A>C (p.Asn231Thr)
19g.15191853T>ACA404532894NOTCH3c.694A>T (p.Asn232Tyr)
c.691A>T (p.Asn231Tyr)
 dbSNP
19g.15191853T>CCA404532896NOTCH3c.694A>G (p.Asn232Asp)
c.691A>G (p.Asn231Asp)
19g.15191853T>GCA404532897NOTCH3c.694A>C (p.Asn232His)
c.691A>C (p.Asn231His)
19g.15191853T=CA2324749875NOTCH3c.694A= (p.Asn232=)
c.691A= (p.Asn231=)
19g.15191854C>ACA404532898NOTCH3c.693G>T (p.Gln231His)
c.690G>T (p.Gln230His)
19g.15191854C=CA2324749876NOTCH3c.693G= (p.Gln231=)
c.690G= (p.Gln230=)
19g.15191854C>GCA404532899NOTCH3c.693G>C (p.Gln231His)
c.690G>C (p.Gln230His)
19g.15191854C>TCA506078793NOTCH3c.693G>A (p.Gln231=)
c.690G>A (p.Gln230=)
 dbSNP gnomAD v2 gnomAD v4
19g.15191855T>ACA404532902NOTCH3c.692A>T (p.Gln231Leu)
c.689A>T (p.Gln230Leu)
19g.15191855T>CCA404532904NOTCH3c.692A>G (p.Gln231Arg)
c.689A>G (p.Gln230Arg)
19g.15191855T>GCA404532905NOTCH3c.692A>C (p.Gln231Pro)
c.689A>C (p.Gln230Pro)
19g.15191856G>ACA404532915NOTCH3c.691C>T (p.Gln231Ter)
c.688C>T (p.Gln230Ter)
 dbSNP
19g.15191856G>CCA404532914NOTCH3c.691C>G (p.Gln231Glu)
c.688C>G (p.Gln230Glu)
19g.15191856G>TCA404532907NOTCH3c.691C>A (p.Gln231Lys)
c.688C>A (p.Gln230Lys)
19g.15191857A>CCA506078602NOTCH3c.690T>G (p.Gly230=)
c.687T>G (p.Gly229=)
19g.15191857A>GCA506078603NOTCH3c.690T>C (p.Gly230=)
c.687T>C (p.Gly229=)
19g.15191857A>TCA506078604NOTCH3c.690T>A (p.Gly230=)
c.687T>A (p.Gly229=)
 dbSNP
19g.15191858C>ACA404532917NOTCH3c.689G>T (p.Gly230Val)
c.686G>T (p.Gly229Val)
19g.15191858C>GCA404532919NOTCH3c.689G>C (p.Gly230Ala)
c.686G>C (p.Gly229Ala)
19g.15191858C>TCA404532920NOTCH3c.689G>A (p.Gly230Asp)
c.686G>A (p.Gly229Asp)
 dbSNP gnomAD v4
19g.15191859C>ACA404532921NOTCH3c.688G>T (p.Gly230Cys)
c.685G>T (p.Gly229Cys)
19g.15191859C=CA2324749877NOTCH3c.688G= (p.Gly230=)
c.685G= (p.Gly229=)
19g.15191859C>GCA404532922NOTCH3c.688G>C (p.Gly230Arg)
c.685G>C (p.Gly229Arg)
19g.15191859C>TCA404532923NOTCH3c.688G>A (p.Gly230Ser)
c.685G>A (p.Gly229Ser)
 dbSNP gnomAD v4
19g.15191860C>ACA404532924NOTCH3c.687G>T (p.Glu229Asp)
c.684G>T (p.Glu228Asp)
 dbSNP
19g.15191860C=CA2324749878NOTCH3c.687G= (p.Glu229=)
c.684G= (p.Glu228=)
19g.15191860C>GCA404532926NOTCH3c.687G>C (p.Glu229Asp)
c.684G>C (p.Glu228Asp)
 COSMIC COSMIC
19g.15191860C>TCA305777607NOTCH3c.687G>A (p.Glu229=)
c.684G>A (p.Glu228=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191861T>ACA404532928NOTCH3c.686A>T (p.Glu229Val)
c.683A>T (p.Glu228Val)
19g.15191861T>CCA404532930NOTCH3c.686A>G (p.Glu229Gly)
c.683A>G (p.Glu228Gly)
19g.15191861T>GCA404532931NOTCH3c.686A>C (p.Glu229Ala)
c.683A>C (p.Glu228Ala)
19g.15191862C>ACA404532932NOTCH3c.685G>T (p.Glu229Ter)
c.682G>T (p.Glu228Ter)
19g.15191862C=CA2324749879NOTCH3c.685G= (p.Glu229=)
c.682G= (p.Glu228=)
19g.15191862C>GCA404532933NOTCH3c.685G>C (p.Glu229Gln)
c.682G>C (p.Glu228Gln)
19g.15191862C>TCA404532934NOTCH3c.685G>A (p.Glu229Lys)
c.682G>A (p.Glu228Lys)
 dbSNP
19g.15191863A>CCA404532937NOTCH3c.684T>G (p.Phe228Leu)
c.681T>G (p.Phe227Leu)
19g.15191863A>GCA506078605NOTCH3c.684T>C (p.Phe228=)
c.681T>C (p.Phe227=)
19g.15191863A>TCA404532938NOTCH3c.684T>A (p.Phe228Leu)
c.681T>A (p.Phe227Leu)
19g.15191864A>CCA404532942NOTCH3c.683T>G (p.Phe228Cys)
c.680T>G (p.Phe227Cys)
19g.15191864A>GCA404532943NOTCH3c.683T>C (p.Phe228Ser)
c.680T>C (p.Phe227Ser)
19g.15191864A>TCA404532945NOTCH3c.683T>A (p.Phe228Tyr)
c.680T>A (p.Phe227Tyr)
19g.15191865A>CCA404532946NOTCH3c.682T>G (p.Phe228Val)
c.679T>G (p.Phe227Val)
19g.15191865A>GCA404532948NOTCH3c.682T>C (p.Phe228Leu)
c.679T>C (p.Phe227Leu)
19g.15191865A>TCA404532949NOTCH3c.682T>A (p.Phe228Ile)
c.679T>A (p.Phe227Ile)
19g.15191866C>ACA506078606NOTCH3c.681G>T (p.Gly227=)
c.678G>T (p.Gly226=)
 dbSNP gnomAD v3 gnomAD v4
19g.15191866C=CA2324749880NOTCH3c.681G= (p.Gly227=)
c.678G= (p.Gly226=)
19g.15191866C>GCA506078607NOTCH3c.681G>C (p.Gly227=)
c.678G>C (p.Gly226=)
19g.15191866C>TCA506078608NOTCH3c.681G>A (p.Gly227=)
c.678G>A (p.Gly226=)
19g.15191867C>ACA404532952NOTCH3c.680G>T (p.Gly227Val)
c.677G>T (p.Gly226Val)
19g.15191867C>GCA404532953NOTCH3c.680G>C (p.Gly227Ala)
c.677G>C (p.Gly226Ala)
19g.15191867C>TCA404532956NOTCH3c.680G>A (p.Gly227Glu)
c.677G>A (p.Gly226Glu)
19g.15191868C>ACA404532958NOTCH3c.680-1G>T (n.680-1G>T)
c.677-1G>T (n.677-1G>T)
19g.15191868C>GCA404532960NOTCH3c.680-1G>C (n.680-1G>C)
c.677-1G>C (n.677-1G>C)
19g.15191868C>TCA404532963NOTCH3c.680-1G>A (n.680-1G>A)
c.677-1G>A (n.677-1G>A)
19g.15191869T>ACA404532967NOTCH3c.680-2A>T (n.680-2A>T)
c.677-2A>T (n.677-2A>T)
19g.15191869T>CCA404532966NOTCH3c.680-2A>G (n.680-2A>G)
c.677-2A>G (n.677-2A>G)
19g.15191869T>GCA404532964NOTCH3c.680-2A>C (n.680-2A>C)
c.677-2A>C (n.677-2A>C)
19g.15191870A=CA2324749881NOTCH3c.680-3T= (n.680-3T=)
c.677-3T= (n.677-3T=)
19g.15191870A>GCA632128098NOTCH3c.680-3T>C (n.680-3T>C)
c.677-3T>C (n.677-3T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191871G>ACA305777609NOTCH3c.680-4C>T (n.680-4C>T)
c.677-4C>T (n.677-4C>T)
 dbSNP
19g.15191871G=CA2324749882NOTCH3c.680-4C= (n.680-4C=)
c.677-4C= (n.677-4C=)
19g.15191871dupCA2583065573NOTCH3c.680-4dup (n.680-4dup)
c.677-4dup (n.677-4dup)
 gnomAD v4
19g.15191872C>GCA2583065574NOTCH3c.680-5G>C (n.680-5G>C)
c.677-5G>C (n.677-5G>C)
 gnomAD v4
19g.15191872C>TCA2583065575NOTCH3c.680-5G>A (n.680-5G>A)
c.677-5G>A (n.677-5G>A)
 gnomAD v4
19g.15191874G=CA2324749883NOTCH3c.680-7C= (n.680-7C=)
c.677-7C= (n.677-7C=)
19g.15191874G>TCA632128099NOTCH3c.680-7C>A (n.680-7C>A)
c.677-7C>A (n.677-7C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15191875G>ACA2735643029NOTCH3c.680-8C>T (n.680-8C>T)
c.677-8C>T (n.677-8C>T)
 dbSNP
19g.15191875G=CA2324749884NOTCH3c.680-8C= (n.680-8C=)
c.677-8C= (n.677-8C=)
19g.15191875G>TCA632128100NOTCH3c.680-8C>A (n.680-8C>A)
c.677-8C>A (n.677-8C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15191876G>CCA9263809NOTCH3c.680-9C>G (n.680-9C>G)
c.677-9C>G (n.677-9C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191876G=CA2324749885NOTCH3c.680-9C= (n.680-9C=)
c.677-9C= (n.677-9C=)
19g.15191876G>TCA2583065576NOTCH3c.680-9C>A (n.680-9C>A)
c.677-9C>A (n.677-9C>A)
 gnomAD v4
19g.15191877A>GCA2583065577NOTCH3c.680-10T>C (n.680-10T>C)
c.677-10T>C (n.677-10T>C)
 gnomAD v4
19g.15191879G>CCA2324749887NOTCH3c.680-12C>G (n.680-12C>G)
c.677-12C>G (n.677-12C>G)
 dbSNP gnomAD v4
19g.15191879G=CA2324749886NOTCH3c.680-12C= (n.680-12C=)
c.677-12C= (n.677-12C=)
19g.15191880G>ACA2573156095NOTCH3c.680-13C>T (n.680-13C>T)
c.677-13C>T (n.677-13C>T)
 ClinVar dbSNP
19g.15191881G>ACA2813728456NOTCH3c.680-14C>T (n.680-14C>T)
c.677-14C>T (n.677-14C>T)
19g.15191882G>ACA632128101NOTCH3c.680-15C>T (n.680-15C>T)
c.677-15C>T (n.677-15C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.15191882G=CA2324749888NOTCH3c.680-15C= (n.680-15C=)
c.677-15C= (n.677-15C=)
19g.15191882G>TCA2735647929NOTCH3c.680-15C>A (n.680-15C>A)
c.677-15C>A (n.677-15C>A)
 dbSNP
19g.15191883G>ACA9263810NOTCH3c.680-16C>T (n.680-16C>T)
c.677-16C>T (n.677-16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191883G=CA2324749889NOTCH3c.680-16C= (n.680-16C=)
c.677-16C= (n.677-16C=)
19g.15191883G>TCA2583065578NOTCH3c.680-16C>A (n.680-16C>A)
c.677-16C>A (n.677-16C>A)
 gnomAD v4
19g.15191884C>TCA2735786608NOTCH3c.680-17G>A (n.680-17G>A)
c.677-17G>A (n.677-17G>A)
 dbSNP
19g.15191887G>ACA783621430NOTCH3c.680-20C>T (n.680-20C>T)
c.677-20C>T (n.677-20C>T)
 dbSNP
19g.15191887G>CCA632128102NOTCH3c.680-20C>G (n.680-20C>G)
c.677-20C>G (n.677-20C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.15191887G=CA2324749890NOTCH3c.680-20C= (n.680-20C=)
c.677-20C= (n.677-20C=)
19g.15191889A>TCA2583065579NOTCH3c.680-22T>A (n.680-22T>A)
c.677-22T>A (n.677-22T>A)
 gnomAD v4
19g.15191889_15191890delinsATCA2324749891NOTCH3c.680-23_680-22delinsAT (n.680-23_680-22delinsAT)
c.677-23_677-22delinsAT (n.677-23_677-22delinsAT)
19g.15191890delCA2324749892NOTCH3c.680-23del (n.680-23del)
c.677-23del (n.677-23del)
 dbSNP
19g.15191890T>ACA9263811NOTCH3c.680-23A>T (n.680-23A>T)
c.677-23A>T (n.677-23A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191890T>CCA9263812NOTCH3c.680-23A>G (n.680-23A>G)
c.677-23A>G (n.677-23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191890T=CA2324749893NOTCH3c.680-23A= (n.680-23A=)
c.677-23A= (n.677-23A=)
19g.15191891G>ACA9263813NOTCH3c.680-24C>T (n.680-24C>T)
c.677-24C>T (n.677-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191891G=CA2324749894NOTCH3c.680-24C= (n.680-24C=)
c.677-24C= (n.677-24C=)
19g.15191892delCA2735786654NOTCH3c.680-24del (n.680-24del)
c.677-24del (n.677-24del)
 dbSNP
19g.15191892G>ACA2735786658NOTCH3c.680-25C>T (n.680-25C>T)
c.677-25C>T (n.677-25C>T)
 dbSNP
19g.15191893T>ACA2735786690NOTCH3c.680-26A>T (n.680-26A>T)
c.677-26A>T (n.677-26A>T)
 dbSNP
19g.15191893T>CCA2583065580NOTCH3c.680-26A>G (n.680-26A>G)
c.677-26A>G (n.677-26A>G)
 gnomAD v4
19g.15191894C>GCA2583065581NOTCH3c.680-27G>C (n.680-27G>C)
c.677-27G>C (n.677-27G>C)
 gnomAD v4
19g.15191894C>TCA2735786692NOTCH3c.680-27G>A (n.680-27G>A)
c.677-27G>A (n.677-27G>A)
 dbSNP
19g.15191895A=CA2324749895NOTCH3c.680-28T= (n.680-28T=)
c.677-28T= (n.677-28T=)
19g.15191895A>CCA2324749896NOTCH3c.680-28T>G (n.680-28T>G)
c.677-28T>G (n.677-28T>G)
 dbSNP
19g.15191895A>TCA2735654573NOTCH3c.680-28T>A (n.680-28T>A)
c.677-28T>A (n.677-28T>A)
 dbSNP
19g.15191896C>TCA2735786698NOTCH3c.680-29G>A (n.680-29G>A)
c.677-29G>A (n.677-29G>A)
 dbSNP
19g.15191897_15191919delCA2583065582NOTCH3c.679+42_680-29del (n.679+42_680-29del)
c.676+42_677-29del (n.676+42_677-29del)
 gnomAD v4
19g.15191897C=CA2324749897NOTCH3c.680-30G= (n.680-30G=)
c.677-30G= (n.677-30G=)
19g.15191897C>TCA9263814NOTCH3c.680-30G>A (n.680-30G>A)
c.677-30G>A (n.677-30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191898G>ACA305777642NOTCH3c.680-31C>T (n.680-31C>T)
c.677-31C>T (n.677-31C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.15191898G>CCA9263815NOTCH3c.680-31C>G (n.680-31C>G)
c.677-31C>G (n.677-31C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191898G=CA2324749898NOTCH3c.680-31C= (n.680-31C=)
c.677-31C= (n.677-31C=)
19g.15191899C>ACA2735786701NOTCH3c.680-32G>T (n.680-32G>T)
c.677-32G>T (n.677-32G>T)
 dbSNP
19g.15191900C>ACA2576658938NOTCH3c.680-33G>T (n.680-33G>T)
c.677-33G>T (n.677-33G>T)
19g.15191900C=CA2324749899NOTCH3c.680-33G= (n.680-33G=)
c.677-33G= (n.677-33G=)
19g.15191900C>GCA2735624615NOTCH3c.680-33G>C (n.680-33G>C)
c.677-33G>C (n.677-33G>C)
 dbSNP
19g.15191900C>TCA9263816NOTCH3c.680-33G>A (n.680-33G>A)
c.677-33G>A (n.677-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191901G>ACA9263817NOTCH3c.680-34C>T (n.680-34C>T)
c.677-34C>T (n.677-34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191901G>CCA2583065585NOTCH3c.680-34C>G (n.680-34C>G)
c.677-34C>G (n.677-34C>G)
 gnomAD v4
19g.15191901G=CA2324749900NOTCH3c.680-34C= (n.680-34C=)
c.677-34C= (n.677-34C=)

Number of alleles fetched