Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15192009G>ACA506078649NOTCH3c.630C>T (p.Gly210=)
c.627C>T (p.Gly209=)
 gnomAD v4
19g.15192009G>CCA305777812NOTCH3c.630C>G (p.Gly210=)
c.627C>G (p.Gly209=)
 dbSNP
19g.15192009G=CA2324749951NOTCH3c.630C= (p.Gly210=)
c.627C= (p.Gly209=)
19g.15192009G>TCA506078650NOTCH3c.630C>A (p.Gly210=)
c.627C>A (p.Gly209=)
19g.15192010C>ACA404533238NOTCH3c.629G>T (p.Gly210Val)
c.626G>T (p.Gly209Val)
19g.15192010C>GCA404533239NOTCH3c.629G>C (p.Gly210Ala)
c.626G>C (p.Gly209Ala)
 gnomAD v4 COSMIC COSMIC
19g.15192010C>TCA404533240NOTCH3c.629G>A (p.Gly210Asp)
c.626G>A (p.Gly209Asp)
 dbSNP gnomAD v4
19g.15192014delCA2583065621NOTCH3c.629del (p.Gly210AlafsTer26)
c.626del (p.Gly209AlafsTer26)
 gnomAD v4
19g.15192011C>ACA404533243NOTCH3c.628G>T (p.Gly210Cys)
c.625G>T (p.Gly209Cys)
19g.15192011C=CA2324749952NOTCH3c.628G= (p.Gly210=)
c.625G= (p.Gly209=)
19g.15192011C>GCA404533246NOTCH3c.628G>C (p.Gly210Arg)
c.625G>C (p.Gly209Arg)
19g.15192011C>TCA404533248NOTCH3c.628G>A (p.Gly210Ser)
c.625G>A (p.Gly209Ser)
 dbSNP
19g.15192012C>ACA506078651NOTCH3c.627G>T (p.Gly209=)
c.624G>T (p.Gly208=)
 dbSNP
19g.15192012C=CA2324749953NOTCH3c.627G= (p.Gly209=)
c.624G= (p.Gly208=)
19g.15192012C>GCA506078653NOTCH3c.627G>C (p.Gly209=)
c.624G>C (p.Gly208=)
19g.15192012C>TCA506078654NOTCH3c.627G>A (p.Gly209=)
c.624G>A (p.Gly208=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192013C>ACA404533249NOTCH3c.626G>T (p.Gly209Val)
c.623G>T (p.Gly208Val)
19g.15192013C>GCA404533252NOTCH3c.626G>C (p.Gly209Ala)
c.623G>C (p.Gly208Ala)
19g.15192013C>TCA404533251NOTCH3c.626G>A (p.Gly209Glu)
c.623G>A (p.Gly208Glu)
 dbSNP COSMIC COSMIC
19g.15192014C>ACA404533253NOTCH3c.625G>T (p.Gly209Trp)
c.622G>T (p.Gly208Trp)
19g.15192014C=CA2324749954NOTCH3c.625G= (p.Gly209=)
c.622G= (p.Gly208=)
19g.15192014C>GCA404533254NOTCH3c.625G>C (p.Gly209Arg)
c.622G>C (p.Gly208Arg)
19g.15192014C>TCA9263845NOTCH3c.625G>A (p.Gly209Arg)
c.622G>A (p.Gly208Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192015G>ACA9263846NOTCH3c.624C>T (p.Asn208=)
c.621C>T (p.Asn207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192015G>CCA404533258NOTCH3c.624C>G (p.Asn208Lys)
c.621C>G (p.Asn207Lys)
19g.15192015G=CA2324749955NOTCH3c.624C= (p.Asn208=)
c.621C= (p.Asn207=)
19g.15192015G>TCA404533259NOTCH3c.624C>A (p.Asn208Lys)
c.621C>A (p.Asn207Lys)
19g.15192016T>ACA404533262NOTCH3c.623A>T (p.Asn208Ile)
c.620A>T (p.Asn207Ile)
19g.15192016T>CCA404533263NOTCH3c.623A>G (p.Asn208Ser)
c.620A>G (p.Asn207Ser)
19g.15192016T>GCA404533266NOTCH3c.623A>C (p.Asn208Thr)
c.620A>C (p.Asn207Thr)
19g.15192017T>ACA404533268NOTCH3c.622A>T (p.Asn208Tyr)
c.619A>T (p.Asn207Tyr)
19g.15192017T>CCA404533270NOTCH3c.622A>G (p.Asn208Asp)
c.619A>G (p.Asn207Asp)
 gnomAD v4
19g.15192017T>GCA404533272NOTCH3c.622A>C (p.Asn208His)
c.619A>C (p.Asn207His)
19g.15192018A>CCA506078658NOTCH3c.621T>G (p.Arg207=)
c.618T>G (p.Arg206=)
19g.15192018A>GCA506078659NOTCH3c.621T>C (p.Arg207=)
c.618T>C (p.Arg206=)
19g.15192018A>TCA506078660NOTCH3c.621T>A (p.Arg207=)
c.618T>A (p.Arg206=)
 dbSNP
19g.15192019C>ACA404533279NOTCH3c.620G>T (p.Arg207Leu)
c.617G>T (p.Arg206Leu)
19g.15192019C=CA2324749956NOTCH3c.620G= (p.Arg207=)
c.617G= (p.Arg206=)
19g.15192019C>GCA404533276NOTCH3c.620G>C (p.Arg207Pro)
c.617G>C (p.Arg206Pro)
 dbSNP
19g.15192019C>TCA9263847NOTCH3c.620G>A (p.Arg207His)
c.617G>A (p.Arg206His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192020G>ACA9263848NOTCH3c.619C>T (p.Arg207Cys)
c.616C>T (p.Arg206Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192020G>CCA404533282NOTCH3c.619C>G (p.Arg207Gly)
c.616C>G (p.Arg206Gly)
 gnomAD v4
19g.15192020G=CA2324749957NOTCH3c.619C= (p.Arg207=)
c.616C= (p.Arg206=)
19g.15192020G>TCA404533284NOTCH3c.619C>A (p.Arg207Ser)
c.616C>A (p.Arg206Ser)
19g.15192021G>ACA506078662NOTCH3c.618C>T (p.Cys206=)
c.615C>T (p.Cys205=)
 dbSNP
19g.15192021G>CCA404533286NOTCH3c.618C>G (p.Cys206Trp)
c.615C>G (p.Cys205Trp)
 dbSNP
19g.15192021G>TCA404533289NOTCH3c.618C>A (p.Cys206Ter)
c.615C>A (p.Cys205Ter)
19g.15192022C>ACA404533291NOTCH3c.617G>T (p.Cys206Phe)
c.614G>T (p.Cys205Phe)
19g.15192022C=CA2324749958NOTCH3c.617G= (p.Cys206=)
c.614G= (p.Cys205=)
19g.15192022C>GCA404533294NOTCH3c.617G>C (p.Cys206Ser)
c.614G>C (p.Cys205Ser)
19g.15192022C>TCA404533296NOTCH3c.617G>A (p.Cys206Tyr)
c.614G>A (p.Cys205Tyr)
 ClinVar dbSNP
19g.15192023A>CCA404533299NOTCH3c.616T>G (p.Cys206Gly)
c.613T>G (p.Cys205Gly)
19g.15192023A>GCA404533301NOTCH3c.616T>C (p.Cys206Arg)
c.613T>C (p.Cys205Arg)
19g.15192023A>TCA404533303NOTCH3c.616T>A (p.Cys206Ser)
c.613T>A (p.Cys205Ser)
19g.15192024T>ACA506078663NOTCH3c.615A>T (p.Pro205=)
c.612A>T (p.Pro204=)
19g.15192024T>CCA506078665NOTCH3c.615A>G (p.Pro205=)
c.612A>G (p.Pro204=)
 dbSNP gnomAD v4
19g.15192024T>GCA506078666NOTCH3c.615A>C (p.Pro205=)
c.612A>C (p.Pro204=)
19g.15192024T=CA2324749959NOTCH3c.615A= (p.Pro205=)
c.612A= (p.Pro204=)
19g.15192025G>ACA404533308NOTCH3c.614C>T (p.Pro205Leu)
c.611C>T (p.Pro204Leu)
 dbSNP
19g.15192025G>CCA404533309NOTCH3c.614C>G (p.Pro205Arg)
c.611C>G (p.Pro204Arg)
19g.15192025G>TCA404533306NOTCH3c.614C>A (p.Pro205Gln)
c.611C>A (p.Pro204Gln)
19g.15192026G>ACA404533316NOTCH3c.613C>T (p.Pro205Ser)
c.610C>T (p.Pro204Ser)
 gnomAD v4
19g.15192026G>CCA404533312NOTCH3c.613C>G (p.Pro205Ala)
c.610C>G (p.Pro204Ala)
19g.15192026G=CA2324749960NOTCH3c.613C= (p.Pro205=)
c.610C= (p.Pro204=)
19g.15192026G>TCA9263849NOTCH3c.613C>A (p.Pro205Thr)
c.610C>A (p.Pro204Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192027T>ACA506078669NOTCH3c.612A>T (p.Ser204=)
c.609A>T (p.Ser203=)
19g.15192027T>CCA506078670NOTCH3c.612A>G (p.Ser204=)
c.609A>G (p.Ser203=)
19g.15192027T>GCA506078671NOTCH3c.612A>C (p.Ser204=)
c.609A>C (p.Ser203=)
19g.15192028G>ACA404533318NOTCH3c.611C>T (p.Ser204Leu)
c.608C>T (p.Ser203Leu)
19g.15192028G>CCA404533321NOTCH3c.611C>G (p.Ser204Ter)
c.608C>G (p.Ser203Ter)
19g.15192028G>TCA404533330NOTCH3c.611C>A (p.Ser204Ter)
c.608C>A (p.Ser203Ter)
19g.15192029A>CCA404533333NOTCH3c.610T>G (p.Ser204Ala)
c.607T>G (p.Ser203Ala)
19g.15192029A>GCA404533336NOTCH3c.610T>C (p.Ser204Pro)
c.607T>C (p.Ser203Pro)
 dbSNP
19g.15192029A>TCA404533337NOTCH3c.610T>A (p.Ser204Thr)
c.607T>A (p.Ser203Thr)
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.15192030G>ACA9263850NOTCH3c.609C>T (p.Pro203=)
c.606C>T (p.Pro202=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192030G>CCA506078672NOTCH3c.609C>G (p.Pro203=)
c.606C>G (p.Pro202=)
19g.15192030G=CA2324749961NOTCH3c.609C= (p.Pro203=)
c.606C= (p.Pro202=)
19g.15192030G>TCA506078673NOTCH3c.609C>A (p.Pro203=)
c.606C>A (p.Pro202=)
19g.15192031G>ACA9263851NOTCH3c.608C>T (p.Pro203Leu)
c.605C>T (p.Pro202Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192031G>CCA404533341NOTCH3c.608C>G (p.Pro203Arg)
c.605C>G (p.Pro202Arg)
19g.15192031G=CA2324749962NOTCH3c.608C= (p.Pro203=)
c.605C= (p.Pro202=)
19g.15192031G>TCA404533344NOTCH3c.608C>A (p.Pro203His)
c.605C>A (p.Pro202His)
19g.15192031_15192035delCA2520579772NOTCH3c.604_608del (p.Ala202LeufsTer5)
c.601_605del (p.Ala201LeufsTer5)
19g.15192032G>ACA404533350NOTCH3c.607C>T (p.Pro203Ser)
c.604C>T (p.Pro202Ser)
 gnomAD v4
19g.15192032G>CCA404533347NOTCH3c.607C>G (p.Pro203Ala)
c.604C>G (p.Pro202Ala)
19g.15192032G>TCA404533348NOTCH3c.607C>A (p.Pro203Thr)
c.604C>A (p.Pro202Thr)
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)
 ClinVar
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
19g.15192045C=CA2324749970NOTCH3c.594G= (p.Ala198=)
c.591G= (p.Ala197=)
19g.15192045C>GCA506078685NOTCH3c.594G>C (p.Ala198=)
c.591G>C (p.Ala197=)
 dbSNP gnomAD v4
19g.15192045C>TCA9263856NOTCH3c.594G>A (p.Ala198=)
c.591G>A (p.Ala197=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192046G>ACA9263857NOTCH3c.593C>T (p.Ala198Val)
c.590C>T (p.Ala197Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192046G>CCA404533416NOTCH3c.593C>G (p.Ala198Gly)
c.590C>G (p.Ala197Gly)
19g.15192046G=CA2324749971NOTCH3c.593C= (p.Ala198=)
c.590C= (p.Ala197=)
19g.15192046G>TCA404533415NOTCH3c.593C>A (p.Ala198Glu)
c.590C>A (p.Ala197Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192047C>ACA404533419NOTCH3c.592G>T (p.Ala198Ser)
c.589G>T (p.Ala197Ser)
19g.15192047C=CA2324749972NOTCH3c.592G= (p.Ala198=)
c.589G= (p.Ala197=)
19g.15192047C>GCA404533421NOTCH3c.592G>C (p.Ala198Pro)
c.589G>C (p.Ala197Pro)
19g.15192047C>TCA9263858NOTCH3c.592G>A (p.Ala198Thr)
c.589G>A (p.Ala197Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192048G>ACA9263859NOTCH3c.591C>T (p.Pro197=)
c.588C>T (p.Pro196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192048G>CCA506078687NOTCH3c.591C>G (p.Pro197=)
c.588C>G (p.Pro196=)
 dbSNP
19g.15192048G=CA2324749973NOTCH3c.591C= (p.Pro197=)
c.588C= (p.Pro196=)
19g.15192048G>TCA506078688NOTCH3c.591C>A (p.Pro197=)
c.588C>A (p.Pro196=)
19g.15192049G>ACA404533422NOTCH3c.590C>T (p.Pro197Leu)
c.587C>T (p.Pro196Leu)
 dbSNP
19g.15192049G>CCA404533423NOTCH3c.590C>G (p.Pro197Arg)
c.587C>G (p.Pro196Arg)
 gnomAD v4
19g.15192049G=CA2324749974NOTCH3c.590C= (p.Pro197=)
c.587C= (p.Pro196=)
19g.15192049G>TCA404533424NOTCH3c.590C>A (p.Pro197His)
c.587C>A (p.Pro196His)
 dbSNP gnomAD v4
19g.15192050G>ACA9263860NOTCH3c.589C>T (p.Pro197Ser)
c.586C>T (p.Pro196Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192050G>CCA404533426NOTCH3c.589C>G (p.Pro197Ala)
c.586C>G (p.Pro196Ala)
 gnomAD v4
19g.15192050G=CA2324749975NOTCH3c.589C= (p.Pro197=)
c.586C= (p.Pro196=)
19g.15192050G>TCA404533427NOTCH3c.589C>A (p.Pro197Thr)
c.586C>A (p.Pro196Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.15192051G>ACA506078692NOTCH3c.588C>T (p.Asn196=)
c.585C>T (p.Asn195=)
 dbSNP
19g.15192051G>CCA404533428NOTCH3c.588C>G (p.Asn196Lys)
c.585C>G (p.Asn195Lys)
19g.15192051G>TCA404533429NOTCH3c.588C>A (p.Asn196Lys)
c.585C>A (p.Asn195Lys)
19g.15192052T>ACA404533430NOTCH3c.587A>T (p.Asn196Ile)
c.584A>T (p.Asn195Ile)
19g.15192052T>CCA404533433NOTCH3c.587A>G (p.Asn196Ser)
c.584A>G (p.Asn195Ser)
19g.15192052T>GCA404533432NOTCH3c.587A>C (p.Asn196Thr)
c.584A>C (p.Asn195Thr)
 dbSNP
19g.15192053T>ACA404533437NOTCH3c.586A>T (p.Asn196Tyr)
c.583A>T (p.Asn195Tyr)
19g.15192053T>CCA404533441NOTCH3c.586A>G (p.Asn196Asp)
c.583A>G (p.Asn195Asp)
19g.15192053T>GCA404533438NOTCH3c.586A>C (p.Asn196His)
c.583A>C (p.Asn195His)
19g.15192054C>ACA404533442NOTCH3c.585G>T (p.Glu195Asp)
c.582G>T (p.Glu194Asp)
19g.15192054C=CA2324749976NOTCH3c.585G= (p.Glu195=)
c.582G= (p.Glu194=)
19g.15192054C>GCA404533444NOTCH3c.585G>C (p.Glu195Asp)
c.582G>C (p.Glu194Asp)
19g.15192054C>TCA506078696NOTCH3c.585G>A (p.Glu195=)
c.582G>A (p.Glu194=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192055T>ACA404533447NOTCH3c.584A>T (p.Glu195Val)
c.581A>T (p.Glu194Val)
 dbSNP
19g.15192055T>CCA404533448NOTCH3c.584A>G (p.Glu195Gly)
c.581A>G (p.Glu194Gly)
 dbSNP
19g.15192055T>GCA404533451NOTCH3c.584A>C (p.Glu195Ala)
c.581A>C (p.Glu194Ala)
19g.15192056C>ACA404533453NOTCH3c.583G>T (p.Glu195Ter)
c.580G>T (p.Glu194Ter)
19g.15192056C=CA2324749977NOTCH3c.583G= (p.Glu195=)
c.580G= (p.Glu194=)
19g.15192056C>GCA404533454NOTCH3c.583G>C (p.Glu195Gln)
c.580G>C (p.Glu194Gln)
19g.15192056C>TCA404533455NOTCH3c.583G>A (p.Glu195Lys)
c.580G>A (p.Glu194Lys)
 ClinVar dbSNP gnomAD v4
19g.15192057A>CCA404533461NOTCH3c.582T>G (p.Cys194Trp)
c.579T>G (p.Cys193Trp)
19g.15192057A>GCA506078697NOTCH3c.582T>C (p.Cys194=)
c.579T>C (p.Cys193=)
19g.15192057A>TCA404533459NOTCH3c.582T>A (p.Cys194Ter)
c.579T>A (p.Cys193Ter)
19g.15192058C>ACA404533463NOTCH3c.581G>T (p.Cys194Phe)
c.578G>T (p.Cys193Phe)
 ClinVar dbSNP
19g.15192058C>GCA404533465NOTCH3c.581G>C (p.Cys194Ser)
c.578G>C (p.Cys193Ser)
19g.15192058C>TCA404533466NOTCH3c.581G>A (p.Cys194Tyr)
c.578G>A (p.Cys193Tyr)
 ClinVar dbSNP
19g.15192059A=CA2324749978NOTCH3c.580T= (p.Cys194=)
c.577T= (p.Cys193=)
19g.15192059A>CCA404533470NOTCH3c.580T>G (p.Cys194Gly)
c.577T>G (p.Cys193Gly)
19g.15192059A>GCA404533472NOTCH3c.580T>C (p.Cys194Arg)
c.577T>C (p.Cys193Arg)
 ClinVar dbSNP
19g.15192059A>TCA404533474NOTCH3c.580T>A (p.Cys194Ser)
c.577T>A (p.Cys193Ser)
 ClinVar dbSNP
19g.15192060T>ACA506078699NOTCH3c.579A>T (p.Leu193=)
c.576A>T (p.Leu192=)
19g.15192060T>CCA506078700NOTCH3c.579A>G (p.Leu193=)
c.576A>G (p.Leu192=)
 gnomAD v4
19g.15192060T>GCA506078701NOTCH3c.579A>C (p.Leu193=)
c.576A>C (p.Leu192=)
 ClinVar dbSNP gnomAD v4
19g.15192061A>CCA404533478NOTCH3c.578T>G (p.Leu193Arg)
c.575T>G (p.Leu192Arg)
 dbSNP
19g.15192061A>GCA404533480NOTCH3c.578T>C (p.Leu193Pro)
c.575T>C (p.Leu192Pro)
 gnomAD v4
19g.15192061A>TCA404533479NOTCH3c.578T>A (p.Leu193Gln)
c.575T>A (p.Leu192Gln)
19g.15192062G>ACA506078703NOTCH3c.577C>T (p.Leu193=)
c.574C>T (p.Leu192=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192062G>CCA404533483NOTCH3c.577C>G (p.Leu193Val)
c.574C>G (p.Leu192Val)
19g.15192062G=CA2324749979NOTCH3c.577C= (p.Leu193=)
c.574C= (p.Leu192=)
19g.15192062G>TCA404533486NOTCH3c.577C>A (p.Leu193Ile)
c.574C>A (p.Leu192Ile)
19g.15192063T>ACA506078706NOTCH3c.576A>T (p.Pro192=)
c.573A>T (p.Pro191=)
 dbSNP
19g.15192063T>CCA506078705NOTCH3c.576A>G (p.Pro192=)
c.573A>G (p.Pro191=)
19g.15192063T>GCA506078704NOTCH3c.576A>C (p.Pro192=)
c.573A>C (p.Pro191=)
19g.15192064G>ACA9263861NOTCH3c.575C>T (p.Pro192Leu)
c.572C>T (p.Pro191Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192064G>CCA404533488NOTCH3c.575C>G (p.Pro192Arg)
c.572C>G (p.Pro191Arg)
19g.15192064G=CA2324749980NOTCH3c.575C= (p.Pro192=)
c.572C= (p.Pro191=)
19g.15192064G>TCA404533490NOTCH3c.575C>A (p.Pro192Gln)
c.572C>A (p.Pro191Gln)
19g.15192065G>ACA404533492NOTCH3c.574C>T (p.Pro192Ser)
c.571C>T (p.Pro191Ser)
 dbSNP
19g.15192065G>CCA404533494NOTCH3c.574C>G (p.Pro192Ala)
c.571C>G (p.Pro191Ala)
19g.15192065G>TCA404533497NOTCH3c.574C>A (p.Pro192Thr)
c.571C>A (p.Pro191Thr)
19g.15192066C>ACA506078710NOTCH3c.573G>T (p.Gly191=)
c.570G>T (p.Gly190=)
 dbSNP
19g.15192066C=CA2324749981NOTCH3c.573G= (p.Gly191=)
c.570G= (p.Gly190=)
19g.15192066C>GCA506078708NOTCH3c.573G>C (p.Gly191=)
c.570G>C (p.Gly190=)
19g.15192066C>TCA305777900NOTCH3c.573G>A (p.Gly191=)
c.570G>A (p.Gly190=)
 dbSNP COSMIC COSMIC
19g.15192067C>ACA404533499NOTCH3c.572G>T (p.Gly191Val)
c.569G>T (p.Gly190Val)
 dbSNP
19g.15192067C=CA2324749982NOTCH3c.572G= (p.Gly191=)
c.569G= (p.Gly190=)
19g.15192067C>GCA404533500NOTCH3c.572G>C (p.Gly191Ala)
c.569G>C (p.Gly190Ala)
19g.15192067C>TCA404533501NOTCH3c.572G>A (p.Gly191Glu)
c.569G>A (p.Gly190Glu)
19g.15192068C>ACA404533504NOTCH3c.571G>T (p.Gly191Trp)
c.568G>T (p.Gly190Trp)
19g.15192068C>GCA404533508NOTCH3c.571G>C (p.Gly191Arg)
c.568G>C (p.Gly190Arg)
19g.15192068C>TCA404533505NOTCH3c.571G>A (p.Gly191Arg)
c.568G>A (p.Gly190Arg)
19g.15192069T>ACA506078711NOTCH3c.570A>T (p.Thr190=)
c.567A>T (p.Thr189=)
 dbSNP
19g.15192069T>CCA506078713NOTCH3c.570A>G (p.Thr190=)
c.567A>G (p.Thr189=)
 dbSNP
19g.15192069T>GCA506078712NOTCH3c.570A>C (p.Thr190=)
c.567A>C (p.Thr189=)
19g.15192070G>ACA404533510NOTCH3c.569C>T (p.Thr190Ile)
c.566C>T (p.Thr189Ile)
 dbSNP gnomAD v4
19g.15192070G>CCA404533513NOTCH3c.569C>G (p.Thr190Arg)
c.566C>G (p.Thr189Arg)
19g.15192070G>TCA404533515NOTCH3c.569C>A (p.Thr190Lys)
c.566C>A (p.Thr189Lys)
19g.15192071T>ACA404533519NOTCH3c.568A>T (p.Thr190Ser)
c.565A>T (p.Thr189Ser)
 gnomAD v4
19g.15192071T>CCA404533522NOTCH3c.568A>G (p.Thr190Ala)
c.565A>G (p.Thr189Ala)
19g.15192071T>GCA404533523NOTCH3c.568A>C (p.Thr190Pro)
c.565A>C (p.Thr189Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192071T=CA2324749983NOTCH3c.568A= (p.Thr190=)
c.565A= (p.Thr189=)
19g.15192072G>ACA506078716NOTCH3c.567C>T (p.Tyr189=)
c.564C>T (p.Tyr188=)
 gnomAD v4
19g.15192072G>CCA404533525NOTCH3c.567C>G (p.Tyr189Ter)
c.564C>G (p.Tyr188Ter)
19g.15192072G>TCA404533528NOTCH3c.567C>A (p.Tyr189Ter)
c.564C>A (p.Tyr188Ter)
19g.15192073T>ACA404533531NOTCH3c.566A>T (p.Tyr189Phe)
c.563A>T (p.Tyr188Phe)
 dbSNP gnomAD v4
19g.15192073T>CCA404533534NOTCH3c.566A>G (p.Tyr189Cys)
c.563A>G (p.Tyr188Cys)
 ClinVar dbSNP
19g.15192073T>GCA404533536NOTCH3c.566A>C (p.Tyr189Ser)
c.563A>C (p.Tyr188Ser)
 dbSNP
19g.15192074A>CCA404533541NOTCH3c.565T>G (p.Tyr189Asp)
c.562T>G (p.Tyr188Asp)
 ClinVar
19g.15192074A>GCA404533539NOTCH3c.565T>C (p.Tyr189His)
c.562T>C (p.Tyr188His)
19g.15192074A>TCA404533538NOTCH3c.565T>A (p.Tyr189Asn)
c.562T>A (p.Tyr188Asn)
19g.15192075G>ACA506078717NOTCH3c.564C>T (p.Gly188=)
c.561C>T (p.Gly187=)
19g.15192075G>CCA506078718NOTCH3c.564C>G (p.Gly188=)
c.561C>G (p.Gly187=)
19g.15192075G>TCA506078720NOTCH3c.564C>A (p.Gly188=)
c.561C>A (p.Gly187=)
19g.15192076C>ACA404533544NOTCH3c.563G>T (p.Gly188Val)
c.560G>T (p.Gly187Val)
 gnomAD v4
19g.15192076C>GCA404533546NOTCH3c.563G>C (p.Gly188Ala)
c.560G>C (p.Gly187Ala)
19g.15192076C>TCA404533547NOTCH3c.563G>A (p.Gly188Asp)
c.560G>A (p.Gly187Asp)
19g.15192077C>ACA404533550NOTCH3c.562G>T (p.Gly188Cys)
c.559G>T (p.Gly187Cys)
19g.15192077C>GCA404533552NOTCH3c.562G>C (p.Gly188Arg)
c.559G>C (p.Gly187Arg)
19g.15192077C>TCA404533553NOTCH3c.562G>A (p.Gly188Ser)
c.559G>A (p.Gly187Ser)
19g.15192078A>CCA506078723NOTCH3c.561T>G (p.Ala187=)
c.558T>G (p.Ala186=)
19g.15192078A>GCA506078724NOTCH3c.561T>C (p.Ala187=)
c.558T>C (p.Ala186=)
19g.15192078A>TCA506078725NOTCH3c.561T>A (p.Ala187=)
c.558T>A (p.Ala186=)
19g.15192079G>ACA404533556NOTCH3c.560C>T (p.Ala187Val)
c.557C>T (p.Ala186Val)
 dbSNP gnomAD v2 gnomAD v4
19g.15192079G>CCA404533558NOTCH3c.560C>G (p.Ala187Gly)
c.557C>G (p.Ala186Gly)
 dbSNP
19g.15192079G=CA2324749984NOTCH3c.560C= (p.Ala187=)
c.557C= (p.Ala186=)
19g.15192079G>TCA404533560NOTCH3c.560C>A (p.Ala187Asp)
c.557C>A (p.Ala186Asp)
 gnomAD v4
19g.15192080C>ACA404533563NOTCH3c.559G>T (p.Ala187Ser)
c.556G>T (p.Ala186Ser)
 dbSNP
19g.15192080C>GCA404533565NOTCH3c.559G>C (p.Ala187Pro)
c.556G>C (p.Ala186Pro)
 dbSNP
19g.15192080C>TCA404533568NOTCH3c.559G>A (p.Ala187Thr)
c.556G>A (p.Ala186Thr)
 dbSNP
19g.15192081T>ACA506078728NOTCH3c.558A>T (p.Pro186=)
c.555A>T (p.Pro185=)
 dbSNP
19g.15192081T>CCA506078729NOTCH3c.558A>G (p.Pro186=)
c.555A>G (p.Pro185=)
19g.15192081T>GCA506078730NOTCH3c.558A>C (p.Pro186=)
c.555A>C (p.Pro185=)
 dbSNP
19g.15192082G>ACA404533572NOTCH3c.557C>T (p.Pro186Leu)
c.554C>T (p.Pro185Leu)
 ClinVar dbSNP
19g.15192082G>CCA404533575NOTCH3c.557C>G (p.Pro186Arg)
c.554C>G (p.Pro185Arg)
 dbSNP
19g.15192082G=CA2324749985NOTCH3c.557C= (p.Pro186=)
c.554C= (p.Pro185=)
19g.15192082G>TCA404533570NOTCH3c.557C>A (p.Pro186Gln)
c.554C>A (p.Pro185Gln)
19g.15192083G>ACA404533580NOTCH3c.556C>T (p.Pro186Ser)
c.553C>T (p.Pro185Ser)
 gnomAD v4
19g.15192083G>CCA404533577NOTCH3c.556C>G (p.Pro186Ala)
c.553C>G (p.Pro185Ala)
 dbSNP
19g.15192083G>TCA404533578NOTCH3c.556C>A (p.Pro186Thr)
c.553C>A (p.Pro185Thr)
19g.15192084A=CA2324749986NOTCH3c.555T= (p.Cys185=)
c.552T= (p.Cys184=)
19g.15192084A>CCA404533583NOTCH3c.555T>G (p.Cys185Trp)
c.552T>G (p.Cys184Trp)
 ClinVar dbSNP
19g.15192084A>GCA506078732NOTCH3c.555T>C (p.Cys185=)
c.552T>C (p.Cys184=)
 dbSNP
19g.15192084A>TCA404533585NOTCH3c.555T>A (p.Cys185Ter)
c.552T>A (p.Cys184Ter)
19g.15192085C>ACA404533588NOTCH3c.554G>T (p.Cys185Phe)
c.551G>T (p.Cys184Phe)
 ClinVar dbSNP
19g.15192085C=CA2324749987NOTCH3c.554G= (p.Cys185=)
c.551G= (p.Cys184=)
19g.15192085C>GCA404533589NOTCH3c.554G>C (p.Cys185Ser)
c.551G>C (p.Cys184Ser)
 dbSNP
19g.15192085C>TCA404533592NOTCH3c.554G>A (p.Cys185Tyr)
c.551G>A (p.Cys184Tyr)
 ClinVar dbSNP
19g.15192086A=CA2324749988NOTCH3c.553T= (p.Cys185=)
c.550T= (p.Cys184=)
19g.15192086A>CCA404533598NOTCH3c.553T>G (p.Cys185Gly)
c.550T>G (p.Cys184Gly)
 ClinVar dbSNP
19g.15192086A>GCA404533599NOTCH3c.553T>C (p.Cys185Arg)
c.550T>C (p.Cys184Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15192086A>TCA404533601NOTCH3c.553T>A (p.Cys185Ser)
c.550T>A (p.Cys184Ser)
19g.15192087C>ACA404533602NOTCH3c.552G>T (p.Gln184His)
c.549G>T (p.Gln183His)
19g.15192087C>GCA404533603NOTCH3c.552G>C (p.Gln184His)
c.549G>C (p.Gln183His)
 dbSNP
19g.15192087C>TCA506078736NOTCH3c.552G>A (p.Gln184=)
c.549G>A (p.Gln183=)
 dbSNP
19g.15192088T>ACA404533606NOTCH3c.551A>T (p.Gln184Leu)
c.548A>T (p.Gln183Leu)
19g.15192088T>CCA404533604NOTCH3c.551A>G (p.Gln184Arg)
c.548A>G (p.Gln183Arg)
19g.15192088T>GCA404533605NOTCH3c.551A>C (p.Gln184Pro)
c.548A>C (p.Gln183Pro)
19g.15192089G>ACA305777902NOTCH3c.550C>T (p.Gln184Ter)
c.547C>T (p.Gln183Ter)
 ClinVar dbSNP
19g.15192089G>CCA404533608NOTCH3c.550C>G (p.Gln184Glu)
c.547C>G (p.Gln183Glu)
19g.15192089G=CA2324749989NOTCH3c.550C= (p.Gln184=)
c.547C= (p.Gln183=)
19g.15192089G>TCA404533610NOTCH3c.550C>A (p.Gln184Lys)
c.547C>A (p.Gln183Lys)
 dbSNP
19g.15192090G>ACA506078738NOTCH3c.549C>T (p.Cys183=)
c.546C>T (p.Cys182=)
19g.15192090G>CCA404533612NOTCH3c.549C>G (p.Cys183Trp)
c.546C>G (p.Cys182Trp)
19g.15192090G>TCA404533614NOTCH3c.549C>A (p.Cys183Ter)
c.546C>A (p.Cys182Ter)
19g.15192091C>ACA404533618NOTCH3c.548G>T (p.Cys183Phe)
c.545G>T (p.Cys182Phe)
 ClinVar dbSNP
19g.15192091C=CA2324749990NOTCH3c.548G= (p.Cys183=)
c.545G= (p.Cys182=)
19g.15192091C>GCA404533619NOTCH3c.548G>C (p.Cys183Ser)
c.545G>C (p.Cys182Ser)
19g.15192091C>TCA404533621NOTCH3c.548G>A (p.Cys183Tyr)
c.545G>A (p.Cys182Tyr)
 ClinVar dbSNP
19g.15192092A>CCA404533623NOTCH3c.547T>G (p.Cys183Gly)
c.544T>G (p.Cys182Gly)
19g.15192092A>GCA404533625NOTCH3c.547T>C (p.Cys183Arg)
c.544T>C (p.Cys182Arg)
 ClinVar dbSNP
19g.15192092A>TCA404533627NOTCH3c.547T>A (p.Cys183Ser)
c.544T>A (p.Cys182Ser)
 ClinVar
19g.15192093G>ACA506078742NOTCH3c.546C>T (p.Arg182=)
c.543C>T (p.Arg181=)
19g.15192093G>CCA506078743NOTCH3c.546C>G (p.Arg182=)
c.543C>G (p.Arg181=)
 dbSNP
19g.15192093G>TCA506078744NOTCH3c.546C>A (p.Arg182=)
c.543C>A (p.Arg181=)
19g.15192094C>ACA9263862NOTCH3c.545G>T (p.Arg182Leu)
c.542G>T (p.Arg181Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192094C=CA2324749991NOTCH3c.545G= (p.Arg182=)
c.542G= (p.Arg181=)
19g.15192094C>GCA404533632NOTCH3c.545G>C (p.Arg182Pro)
c.542G>C (p.Arg181Pro)
 dbSNP
19g.15192094C>TCA305777903NOTCH3c.545G>A (p.Arg182His)
c.542G>A (p.Arg181His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15192095G>ACA340885NOTCH3c.544C>T (p.Arg182Cys)
c.541C>T (p.Arg181Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192095G>CCA404533636NOTCH3c.544C>G (p.Arg182Gly)
c.541C>G (p.Arg181Gly)
19g.15192095G=CA2324749992NOTCH3c.544C= (p.Arg182=)
c.541C= (p.Arg181=)
19g.15192095G>TCA404533638NOTCH3c.544C>A (p.Arg182Ser)
c.541C>A (p.Arg181Ser)
19g.15192096G>ACA506078749NOTCH3c.543C>T (p.Phe181=)
c.540C>T (p.Phe180=)
19g.15192096G>CCA404533641NOTCH3c.543C>G (p.Phe181Leu)
c.540C>G (p.Phe180Leu)
19g.15192096G>TCA404533644NOTCH3c.543C>A (p.Phe181Leu)
c.540C>A (p.Phe180Leu)
19g.15192097A>CCA404533650NOTCH3c.542T>G (p.Phe181Cys)
c.539T>G (p.Phe180Cys)
19g.15192097A>GCA404533648NOTCH3c.542T>C (p.Phe181Ser)
c.539T>C (p.Phe180Ser)
 dbSNP
19g.15192097A>TCA404533647NOTCH3c.542T>A (p.Phe181Tyr)
c.539T>A (p.Phe180Tyr)
19g.15192098A>CCA404533653NOTCH3c.541T>G (p.Phe181Val)
c.538T>G (p.Phe180Val)
19g.15192098A>GCA404533656NOTCH3c.541T>C (p.Phe181Leu)
c.538T>C (p.Phe180Leu)
 dbSNP
19g.15192098A>TCA404533658NOTCH3c.541T>A (p.Phe181Ile)
c.538T>A (p.Phe180Ile)
19g.15192099G>ACA506078753NOTCH3c.540C>T (p.Ser180=)
c.537C>T (p.Ser179=)
19g.15192099G>CCA506078754NOTCH3c.540C>G (p.Ser180=)
c.537C>G (p.Ser179=)
19g.15192099G>TCA506078755NOTCH3c.540C>A (p.Ser180=)
c.537C>A (p.Ser179=)
19g.15192100G>ACA404533661NOTCH3c.539C>T (p.Ser180Phe)
c.536C>T (p.Ser179Phe)
 dbSNP gnomAD v3 gnomAD v4
19g.15192100G>CCA404533662NOTCH3c.539C>G (p.Ser180Cys)
c.536C>G (p.Ser179Cys)
19g.15192100G=CA2324749993NOTCH3c.539C= (p.Ser180=)
c.536C= (p.Ser179=)
19g.15192100G>TCA404533663NOTCH3c.539C>A (p.Ser180Tyr)
c.536C>A (p.Ser179Tyr)
19g.15192101A>CCA404533666NOTCH3c.538T>G (p.Ser180Ala)
c.535T>G (p.Ser179Ala)
19g.15192101A>GCA404533669NOTCH3c.538T>C (p.Ser180Pro)
c.535T>C (p.Ser179Pro)
19g.15192101A>TCA404533667NOTCH3c.538T>A (p.Ser180Thr)
c.535T>A (p.Ser179Thr)
 gnomAD v4
19g.15192102G>ACA506078757NOTCH3c.537C>T (p.Gly179=)
c.534C>T (p.Gly178=)
19g.15192102G>CCA506078758NOTCH3c.537C>G (p.Gly179=)
c.534C>G (p.Gly178=)
19g.15192102G>TCA506078759NOTCH3c.537C>A (p.Gly179=)
c.534C>A (p.Gly178=)
19g.15192103C>ACA9263863NOTCH3c.536G>T (p.Gly179Val)
c.533G>T (p.Gly178Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192103C=CA2324749994NOTCH3c.536G= (p.Gly179=)
c.533G= (p.Gly178=)
19g.15192103C>GCA404533673NOTCH3c.536G>C (p.Gly179Ala)
c.533G>C (p.Gly178Ala)
19g.15192103C>TCA404533674NOTCH3c.536G>A (p.Gly179Asp)
c.533G>A (p.Gly178Asp)
 dbSNP gnomAD v4
19g.15192104C>ACA404533676NOTCH3c.535G>T (p.Gly179Cys)
c.532G>T (p.Gly178Cys)
19g.15192104C>GCA404533677NOTCH3c.535G>C (p.Gly179Arg)
c.532G>C (p.Gly178Arg)
19g.15192104C>TCA404533678NOTCH3c.535G>A (p.Gly179Ser)
c.532G>A (p.Gly178Ser)
19g.15192105A>CCA506078763NOTCH3c.534T>G (p.Pro178=)
c.531T>G (p.Pro177=)
 dbSNP
19g.15192105A>GCA506078764NOTCH3c.534T>C (p.Pro178=)
c.531T>C (p.Pro177=)
19g.15192105A>TCA506078765NOTCH3c.534T>A (p.Pro178=)
c.531T>A (p.Pro177=)
19g.15192106G>ACA404533681NOTCH3c.533C>T (p.Pro178Leu)
c.530C>T (p.Pro177Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192106G>CCA9263864NOTCH3c.533C>G (p.Pro178Arg)
c.530C>G (p.Pro177Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192106G=CA2324749995NOTCH3c.533C= (p.Pro178=)
c.530C= (p.Pro177=)
19g.15192106G>TCA404533684NOTCH3c.533C>A (p.Pro178His)
c.530C>A (p.Pro177His)
 dbSNP gnomAD v2
19g.15192107G>ACA404533685NOTCH3c.532C>T (p.Pro178Ser)
c.529C>T (p.Pro177Ser)
19g.15192107G>CCA404533686NOTCH3c.532C>G (p.Pro178Ala)
c.529C>G (p.Pro177Ala)
 dbSNP
19g.15192107G>TCA404533688NOTCH3c.532C>A (p.Pro178Thr)
c.529C>A (p.Pro177Thr)
19g.15192107_15192108delinsAACA2573156096NOTCH3c.531_532delinsTT (p.Pro178Ser)
c.528_529delinsTT (p.Pro177Ser)
 ClinVar dbSNP
19g.15192111_15192112delCA2583065622NOTCH3c.531_532del (p.Pro178TrpfsTer17)
c.528_529del (p.Pro177TrpfsTer17)
 gnomAD v4
19g.15192108T>ACA506078767NOTCH3c.531A>T (p.Thr177=)
c.528A>T (p.Thr176=)
 dbSNP
19g.15192108T>CCA506078769NOTCH3c.531A>G (p.Thr177=)
c.528A>G (p.Thr176=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192108T>GCA506078771NOTCH3c.531A>C (p.Thr177=)
c.528A>C (p.Thr176=)
19g.15192108T=CA2324749996NOTCH3c.531A= (p.Thr177=)
c.528A= (p.Thr176=)
19g.15192109G>ACA305777913NOTCH3c.530C>T (p.Thr177Ile)
c.527C>T (p.Thr176Ile)
 ClinVar dbSNP
19g.15192109G>CCA404533692NOTCH3c.530C>G (p.Thr177Arg)
c.527C>G (p.Thr176Arg)
19g.15192109G=CA2324749997NOTCH3c.530C= (p.Thr177=)
c.527C= (p.Thr176=)
19g.15192109G>TCA404533690NOTCH3c.530C>A (p.Thr177Lys)
c.527C>A (p.Thr176Lys)

Number of alleles fetched