Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15192029_15192041delinsGGGTTCTCA2695228451NOTCH3c.598_610delinsAGAACCC (p.Pro200_Ser204delinsArgThrPro)
c.595_607delinsAGAACCC (p.Pro199_Ser203delinsArgThrPro)
19g.15192029_15192041delinsGGGGTTCTCA2695228452NOTCH3c.598_610delinsAGAACCCC (p.Pro200ArgfsTer7)
c.595_607delinsAGAACCCC (p.Pro199ArgfsTer7)
19g.15192031_15192035delCA2520579772NOTCH3c.604_608del (p.Ala202LeufsTer5)
c.601_605del (p.Ala201LeufsTer5)
19g.15192033T>ACA506078674NOTCH3c.606A>T (p.Ala202=)
c.603A>T (p.Ala201=)
dbSNP gnomAD v2 gnomAD v4
19g.15192033T>CCA9263852NOTCH3c.606A>G (p.Ala202=)
c.603A>G (p.Ala201=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192033T>GCA506078675NOTCH3c.606A>C (p.Ala202=)
c.603A>C (p.Ala201=)
19g.15192033T=CA2324749963NOTCH3c.606A= (p.Ala202=)
c.603A= (p.Ala201=)
19g.15192033_15192034delinsCACA2739276579NOTCH3c.605_606delinsTG (p.Ala202Val)
c.602_603delinsTG (p.Ala201Val)
19g.15192033_15192127delinsTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCA2324749964NOTCH3c.512_606delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly171=)
c.509_603delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly170=)
19g.15192034G>ACA9263853NOTCH3c.605C>T (p.Ala202Val)
c.602C>T (p.Ala201Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15192034G>CCA404533353NOTCH3c.605C>G (p.Ala202Gly)
c.602C>G (p.Ala201Gly)
19g.15192034G=CA2324749965NOTCH3c.605C= (p.Ala202=)
c.602C= (p.Ala201=)
19g.15192034G>TCA404533356NOTCH3c.605C>A (p.Ala202Glu)
c.602C>A (p.Ala201Glu)
gnomAD v4
19g.15192034_15192127delinsTCA1139666341NOTCH3c.512_605delinsA (p.Gly171_Ala202delinsGlu)
c.509_602delinsA (p.Gly170_Ala201delinsGlu)
ClinVar dbSNP
19g.15192035C>ACA404533358NOTCH3c.604G>T (p.Ala202Ser)
c.601G>T (p.Ala201Ser)
19g.15192035C>GCA404533360NOTCH3c.604G>C (p.Ala202Pro)
c.601G>C (p.Ala201Pro)
19g.15192035C>TCA404533365NOTCH3c.604G>A (p.Ala202Thr)
c.601G>A (p.Ala201Thr)
19g.15192036A>CCA404533367NOTCH3c.603T>G (p.Cys201Trp)
c.600T>G (p.Cys200Trp)
dbSNP
19g.15192036A>GCA506078676NOTCH3c.603T>C (p.Cys201=)
c.600T>C (p.Cys200=)
19g.15192036A>TCA404533370NOTCH3c.603T>A (p.Cys201Ter)
c.600T>A (p.Cys200Ter)
19g.15192037C>ACA404533373NOTCH3c.602G>T (p.Cys201Phe)
c.599G>T (p.Cys200Phe)
ClinVar dbSNP
19g.15192037C=CA2324749966NOTCH3c.602G= (p.Cys201=)
c.599G= (p.Cys200=)
19g.15192037C>GCA404533375NOTCH3c.602G>C (p.Cys201Ser)
c.599G>C (p.Cys200Ser)
ClinVar dbSNP
19g.15192037C>TCA404533376NOTCH3c.602G>A (p.Cys201Tyr)
c.599G>A (p.Cys200Tyr)
ClinVar dbSNP
19g.15192037_15192042delCA2512937571NOTCH3c.597_602del (p.Pro200_Cys201del)
c.594_599del (p.Pro199_Cys200del)
19g.15192038A=CA2324749967NOTCH3c.601T= (p.Cys201=)
c.598T= (p.Cys200=)
19g.15192038A>CCA404533381NOTCH3c.601T>G (p.Cys201Gly)
c.598T>G (p.Cys200Gly)
ClinVar dbSNP
19g.15192038A>GCA404533383NOTCH3c.601T>C (p.Cys201Arg)
c.598T>C (p.Cys200Arg)
19g.15192038A>TCA404533378NOTCH3c.601T>A (p.Cys201Ser)
c.598T>A (p.Cys200Ser)
19g.15192039G>ACA506078677NOTCH3c.600C>T (p.Pro200=)
c.597C>T (p.Pro199=)
19g.15192039G>CCA506078678NOTCH3c.600C>G (p.Pro200=)
c.597C>G (p.Pro199=)
19g.15192039G=CA2324749968NOTCH3c.600C= (p.Pro200=)
c.597C= (p.Pro199=)
19g.15192039G>TCA9263854NOTCH3c.600C>A (p.Pro200=)
c.597C>A (p.Pro199=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192040G>ACA404533386NOTCH3c.599C>T (p.Pro200Leu)
c.596C>T (p.Pro199Leu)
gnomAD v4
19g.15192040G>CCA404533388NOTCH3c.599C>G (p.Pro200Arg)
c.596C>G (p.Pro199Arg)
gnomAD v4
19g.15192040G>TCA404533390NOTCH3c.599C>A (p.Pro200His)
c.596C>A (p.Pro199His)
19g.15192041G>ACA404533392NOTCH3c.598C>T (p.Pro200Ser)
c.595C>T (p.Pro199Ser)
dbSNP
19g.15192041G>CCA404533393NOTCH3c.598C>G (p.Pro200Ala)
c.595C>G (p.Pro199Ala)
19g.15192041G>TCA404533395NOTCH3c.598C>A (p.Pro200Thr)
c.595C>A (p.Pro199Thr)
19g.15192042C>ACA506078683NOTCH3c.597G>T (p.Val199=)
c.594G>T (p.Val198=)
19g.15192042C=CA2324749969NOTCH3c.597G= (p.Val199=)
c.594G= (p.Val198=)
19g.15192042C>GCA506078682NOTCH3c.597G>C (p.Val199=)
c.594G>C (p.Val198=)
19g.15192042C>TCA9263855NOTCH3c.597G>A (p.Val199=)
c.594G>A (p.Val198=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192043A>CCA404533400NOTCH3c.596T>G (p.Val199Gly)
c.593T>G (p.Val198Gly)
19g.15192043A>GCA404533401NOTCH3c.596T>C (p.Val199Ala)
c.593T>C (p.Val198Ala)
19g.15192043A>TCA404533403NOTCH3c.596T>A (p.Val199Glu)
c.593T>A (p.Val198Glu)
dbSNP
19g.15192044C>ACA404533404NOTCH3c.595G>T (p.Val199Leu)
c.592G>T (p.Val198Leu)
19g.15192044C>GCA404533407NOTCH3c.595G>C (p.Val199Leu)
c.592G>C (p.Val198Leu)
19g.15192044C>TCA404533410NOTCH3c.595G>A (p.Val199Met)
c.592G>A (p.Val198Met)
dbSNP gnomAD v4
19g.15192045C>ACA506078684NOTCH3c.594G>T (p.Ala198=)
c.591G>T (p.Ala197=)
gnomAD v4

Number of alleles fetched