Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15192033_15192127delinsTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCA2324749964NOTCH3c.512_606delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly171=)
c.509_603delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly170=)
19g.15192034_15192127delinsTCA1139666341NOTCH3c.512_605delinsA (p.Gly171_Ala202delinsGlu)
c.509_602delinsA (p.Gly170_Ala201delinsGlu)
 ClinVar dbSNP
19g.15192037_15192042delCA2512937571NOTCH3c.597_602del (p.Pro200_Cys201del)
c.594_599del (p.Pro199_Cys200del)
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)
19g.15192110T>ACA404533698NOTCH3c.529A>T (p.Thr177Ser)
c.526A>T (p.Thr176Ser)
19g.15192110T>CCA404533700NOTCH3c.529A>G (p.Thr177Ala)
c.526A>G (p.Thr176Ala)
19g.15192110T>GCA404533702NOTCH3c.529A>C (p.Thr177Pro)
c.526A>C (p.Thr176Pro)
19g.15192111G>ACA506078775NOTCH3c.528C>T (p.Asn176=)
c.525C>T (p.Asn175=)
 gnomAD v4
19g.15192111G>CCA404533704NOTCH3c.528C>G (p.Asn176Lys)
c.525C>G (p.Asn175Lys)
19g.15192111G>TCA404533707NOTCH3c.528C>A (p.Asn176Lys)
c.525C>A (p.Asn175Lys)
19g.15192112T>ACA404533709NOTCH3c.527A>T (p.Asn176Ile)
c.524A>T (p.Asn175Ile)
 dbSNP
19g.15192112T>CCA404533711NOTCH3c.527A>G (p.Asn176Ser)
c.524A>G (p.Asn175Ser)
19g.15192112T>GCA404533713NOTCH3c.527A>C (p.Asn176Thr)
c.524A>C (p.Asn175Thr)
19g.15192113T>ACA404533716NOTCH3c.526A>T (p.Asn176Tyr)
c.523A>T (p.Asn175Tyr)
19g.15192113T>CCA404533718NOTCH3c.526A>G (p.Asn176Asp)
c.523A>G (p.Asn175Asp)
 gnomAD v4
19g.15192113T>GCA404533719NOTCH3c.526A>C (p.Asn176His)
c.523A>C (p.Asn175His)
19g.15192114G>ACA506078805NOTCH3c.525C>T (p.Leu175=)
c.522C>T (p.Leu174=)
19g.15192114G>CCA506078806NOTCH3c.525C>G (p.Leu175=)
c.522C>G (p.Leu174=)
 dbSNP
19g.15192114G>TCA506078807NOTCH3c.525C>A (p.Leu175=)
c.522C>A (p.Leu174=)
19g.15192114_15192118delinsAAGCACA2695228453NOTCH3c.521_525delinsTGCTT (p.Cys174Leu)
c.518_522delinsTGCTT (p.Cys173Leu)
19g.15192115A>CCA404533721NOTCH3c.524T>G (p.Leu175Arg)
c.521T>G (p.Leu174Arg)
19g.15192115A>GCA404533724NOTCH3c.524T>C (p.Leu175Pro)
c.521T>C (p.Leu174Pro)
 dbSNP
19g.15192115A>TCA404533726NOTCH3c.524T>A (p.Leu175His)
c.521T>A (p.Leu174His)
 dbSNP
19g.15192116G>ACA404533731NOTCH3c.523C>T (p.Leu175Phe)
c.520C>T (p.Leu174Phe)
19g.15192116G>CCA404533729NOTCH3c.523C>G (p.Leu175Val)
c.520C>G (p.Leu174Val)
 dbSNP
19g.15192116G>TCA404533728NOTCH3c.523C>A (p.Leu175Ile)
c.520C>A (p.Leu174Ile)
19g.15192117G>ACA506078808NOTCH3c.522C>T (p.Cys174=)
c.519C>T (p.Cys173=)
 gnomAD v4
19g.15192117G>CCA404533733NOTCH3c.522C>G (p.Cys174Trp)
c.519C>G (p.Cys173Trp)
 dbSNP
19g.15192117G>TCA404533734NOTCH3c.522C>A (p.Cys174Ter)
c.519C>A (p.Cys173Ter)
19g.15192117_15192118delinsCACA2695228454NOTCH3c.521_522delinsTG (p.Cys174Leu)
c.518_519delinsTG (p.Cys173Leu)
19g.15192118C>ACA404533735NOTCH3c.521G>T (p.Cys174Phe)
c.518G>T (p.Cys173Phe)
 ClinVar dbSNP
19g.15192118C=CA2324749998NOTCH3c.521G= (p.Cys174=)
c.518G= (p.Cys173=)
19g.15192118C>GCA404533738NOTCH3c.521G>C (p.Cys174Ser)
c.518G>C (p.Cys173Ser)
 ClinVar dbSNP
19g.15192118C>TCA404533739NOTCH3c.521G>A (p.Cys174Tyr)
c.518G>A (p.Cys173Tyr)
 ClinVar dbSNP
19g.15192119A=CA2324749999NOTCH3c.520T= (p.Cys174=)
c.517T= (p.Cys173=)
19g.15192119A>CCA404533741NOTCH3c.520T>G (p.Cys174Gly)
c.517T>G (p.Cys173Gly)
19g.15192119A>GCA404533742NOTCH3c.520T>C (p.Cys174Arg)
c.517T>C (p.Cys173Arg)
 ClinVar dbSNP
19g.15192119A>TCA404533744NOTCH3c.520T>A (p.Cys174Ser)
c.517T>A (p.Cys173Ser)
 ClinVar dbSNP
19g.15192120G>ACA506078809NOTCH3c.519C>T (p.Thr173=)
c.516C>T (p.Thr172=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192120G>CCA506078810NOTCH3c.519C>G (p.Thr173=)
c.516C>G (p.Thr172=)
19g.15192120G=CA2324750000NOTCH3c.519C= (p.Thr173=)
c.516C= (p.Thr172=)
19g.15192120G>TCA506078811NOTCH3c.519C>A (p.Thr173=)
c.516C>A (p.Thr172=)
 dbSNP gnomAD v4
19g.15192121G>ACA404533746NOTCH3c.518C>T (p.Thr173Ile)
c.515C>T (p.Thr172Ile)
 dbSNP gnomAD v4
19g.15192121G>CCA404533747NOTCH3c.518C>G (p.Thr173Ser)
c.515C>G (p.Thr172Ser)
 dbSNP
19g.15192121G=CA2324750001NOTCH3c.518C= (p.Thr173=)
c.515C= (p.Thr172=)
19g.15192121G>TCA404533752NOTCH3c.518C>A (p.Thr173Asn)
c.515C>A (p.Thr172Asn)
19g.15192122T>ACA404533755NOTCH3c.517A>T (p.Thr173Ser)
c.514A>T (p.Thr172Ser)
 gnomAD v4
19g.15192122T>CCA404533758NOTCH3c.517A>G (p.Thr173Ala)
c.514A>G (p.Thr172Ala)
19g.15192122T>GCA305777922NOTCH3c.517A>C (p.Thr173Pro)
c.514A>C (p.Thr172Pro)
 dbSNP gnomAD v4
19g.15192122T=CA2324750002NOTCH3c.517A= (p.Thr173=)
c.514A= (p.Thr172=)
19g.15192123G>ACA506078814NOTCH3c.516C>T (p.Gly172=)
c.513C>T (p.Gly171=)
 dbSNP gnomAD v4
19g.15192123G>CCA506078815NOTCH3c.516C>G (p.Gly172=)
c.513C>G (p.Gly171=)
 dbSNP
19g.15192123G>TCA506078817NOTCH3c.516C>A (p.Gly172=)
c.513C>A (p.Gly171=)
19g.15192124C>ACA404533769NOTCH3c.515G>T (p.Gly172Val)
c.512G>T (p.Gly171Val)
19g.15192124C=CA2324750003NOTCH3c.515G= (p.Gly172=)
c.512G= (p.Gly171=)
19g.15192124C>GCA404533771NOTCH3c.515G>C (p.Gly172Ala)
c.512G>C (p.Gly171Ala)
 dbSNP
19g.15192124C>TCA9263865NOTCH3c.515G>A (p.Gly172Asp)
c.512G>A (p.Gly171Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192125C>ACA404533774NOTCH3c.514G>T (p.Gly172Cys)
c.511G>T (p.Gly171Cys)
19g.15192125C>GCA404533776NOTCH3c.514G>C (p.Gly172Arg)
c.511G>C (p.Gly171Arg)
19g.15192125C>TCA404533778NOTCH3c.514G>A (p.Gly172Ser)
c.511G>A (p.Gly171Ser)
 gnomAD v4
19g.15192126A=CA2324750004NOTCH3c.513T= (p.Gly171=)
c.510T= (p.Gly170=)
19g.15192126A>CCA506078820NOTCH3c.513T>G (p.Gly171=)
c.510T>G (p.Gly170=)
 dbSNP
19g.15192126A>GCA506078821NOTCH3c.513T>C (p.Gly171=)
c.510T>C (p.Gly170=)
19g.15192126A>TCA506078822NOTCH3c.513T>A (p.Gly171=)
c.510T>A (p.Gly170=)
19g.15192127C>ACA404533780NOTCH3c.512G>T (p.Gly171Val)
c.509G>T (p.Gly170Val)
 dbSNP
19g.15192127C>GCA404533783NOTCH3c.512G>C (p.Gly171Ala)
c.509G>C (p.Gly170Ala)
19g.15192127C>TCA404533784NOTCH3c.512G>A (p.Gly171Asp)
c.509G>A (p.Gly170Asp)
 gnomAD v4
19g.15192128C>ACA404533787NOTCH3c.511G>T (p.Gly171Cys)
c.508G>T (p.Gly170Cys)
 dbSNP
19g.15192128C=CA2324750005NOTCH3c.511G= (p.Gly171=)
c.508G= (p.Gly170=)
19g.15192128C>GCA9263866NOTCH3c.511G>C (p.Gly171Arg)
c.508G>C (p.Gly170Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192128C>TCA404533785NOTCH3c.511G>A (p.Gly171Ser)
c.508G>A (p.Gly170Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192129A>CCA404533791NOTCH3c.510T>G (p.His170Gln)
c.507T>G (p.His169Gln)
 dbSNP
19g.15192129A>GCA506078825NOTCH3c.510T>C (p.His170=)
c.507T>C (p.His169=)
 dbSNP
19g.15192129A>TCA404533793NOTCH3c.510T>A (p.His170Gln)
c.507T>A (p.His169Gln)
19g.15192130T>ACA404533794NOTCH3c.509A>T (p.His170Leu)
c.506A>T (p.His169Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192130T>CCA9263867NOTCH3c.509A>G (p.His170Arg)
c.506A>G (p.His169Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192130T>GCA404533798NOTCH3c.509A>C (p.His170Pro)
c.506A>C (p.His169Pro)
19g.15192130T=CA2324750006NOTCH3c.509A= (p.His170=)
c.506A= (p.His169=)
19g.15192131G>ACA404533800NOTCH3c.508C>T (p.His170Tyr)
c.505C>T (p.His169Tyr)
 gnomAD v4
19g.15192131G>CCA404533803NOTCH3c.508C>G (p.His170Asp)
c.505C>G (p.His169Asp)
 dbSNP
19g.15192131G>TCA404533801NOTCH3c.508C>A (p.His170Asn)
c.505C>A (p.His169Asn)
 gnomAD v4
19g.15192132G>ACA506078829NOTCH3c.507C>T (p.Arg169=)
c.504C>T (p.Arg168=)
 dbSNP
19g.15192132G>CCA506078831NOTCH3c.507C>G (p.Arg169=)
c.504C>G (p.Arg168=)
 dbSNP
19g.15192132G>TCA506078833NOTCH3c.507C>A (p.Arg169=)
c.504C>A (p.Arg168=)
19g.15192133C>ACA404533804NOTCH3c.506G>T (p.Arg169Leu)
c.503G>T (p.Arg168Leu)
 gnomAD v4
19g.15192133C=CA2324750007NOTCH3c.506G= (p.Arg169=)
c.503G= (p.Arg168=)
19g.15192133C>GCA404533805NOTCH3c.506G>C (p.Arg169Pro)
c.503G>C (p.Arg168Pro)
19g.15192133C>TCA9263868NOTCH3c.506G>A (p.Arg169His)
c.503G>A (p.Arg168His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192134G>ACA340884NOTCH3c.505C>T (p.Arg169Cys)
c.502C>T (p.Arg168Cys)
 ClinVar dbSNP gnomAD v4
19g.15192134G>CCA404533808NOTCH3c.505C>G (p.Arg169Gly)
c.502C>G (p.Arg168Gly)
 dbSNP
19g.15192134G=CA2324750008NOTCH3c.505C= (p.Arg169=)
c.502C= (p.Arg168=)
19g.15192134G>TCA404533810NOTCH3c.505C>A (p.Arg169Ser)
c.502C>A (p.Arg168Ser)
19g.15192135G>ACA506078835NOTCH3c.504C>T (p.Cys168=)
c.501C>T (p.Cys167=)
 dbSNP gnomAD v4
19g.15192135G>CCA404533811NOTCH3c.504C>G (p.Cys168Trp)
c.501C>G (p.Cys167Trp)
19g.15192135G>TCA404533813NOTCH3c.504C>A (p.Cys168Ter)
c.501C>A (p.Cys167Ter)
19g.15192136C>ACA404533814NOTCH3c.503G>T (p.Cys168Phe)
c.500G>T (p.Cys167Phe)
 dbSNP
19g.15192136C>GCA404533816NOTCH3c.503G>C (p.Cys168Ser)
c.500G>C (p.Cys167Ser)
 dbSNP
19g.15192136C>TCA404533817NOTCH3c.503G>A (p.Cys168Tyr)
c.500G>A (p.Cys167Tyr)
 ClinVar dbSNP
19g.15192137A=CA2324750009NOTCH3c.502T= (p.Cys168=)
c.499T= (p.Cys167=)
19g.15192137A>CCA404533818NOTCH3c.502T>G (p.Cys168Gly)
c.499T>G (p.Cys167Gly)
19g.15192137A>GCA404533822NOTCH3c.502T>C (p.Cys168Arg)
c.499T>C (p.Cys167Arg)
 dbSNP
19g.15192137A>TCA404533820NOTCH3c.502T>A (p.Cys168Ser)
c.499T>A (p.Cys167Ser)
 ClinVar
19g.15192138G>ACA305777951NOTCH3c.501C>T (p.Pro167=)
c.498C>T (p.Pro166=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15192138G>CCA506078840NOTCH3c.501C>G (p.Pro167=)
c.498C>G (p.Pro166=)
19g.15192138G=CA2324750010NOTCH3c.501C= (p.Pro167=)
c.498C= (p.Pro166=)
19g.15192138G>TCA9263869NOTCH3c.501C>A (p.Pro167=)
c.498C>A (p.Pro166=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192139G>ACA404533828NOTCH3c.500C>T (p.Pro167Leu)
c.497C>T (p.Pro166Leu)
 gnomAD v4
19g.15192139G>CCA404533824NOTCH3c.500C>G (p.Pro167Arg)
c.497C>G (p.Pro166Arg)
19g.15192139G>TCA404533825NOTCH3c.500C>A (p.Pro167His)
c.497C>A (p.Pro166His)
19g.15192140G>ACA9263870NOTCH3c.499C>T (p.Pro167Ser)
c.496C>T (p.Pro166Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15192140G>CCA404533830NOTCH3c.499C>G (p.Pro167Ala)
c.496C>G (p.Pro166Ala)
19g.15192140G=CA2324750011NOTCH3c.499C= (p.Pro167=)
c.496C= (p.Pro166=)
19g.15192140G>TCA404533831NOTCH3c.499C>A (p.Pro167Thr)
c.496C>A (p.Pro166Thr)
19g.15192141C>ACA404533833NOTCH3c.498G>T (p.Glu166Asp)
c.495G>T (p.Glu165Asp)
 dbSNP
19g.15192141C>GCA404533834NOTCH3c.498G>C (p.Glu166Asp)
c.495G>C (p.Glu165Asp)
 dbSNP
19g.15192141C>TCA506078841NOTCH3c.498G>A (p.Glu166=)
c.495G>A (p.Glu165=)
 gnomAD v4
19g.15192142T>ACA404533836NOTCH3c.497A>T (p.Glu166Val)
c.494A>T (p.Glu165Val)
 dbSNP
19g.15192142T>CCA404533838NOTCH3c.497A>G (p.Glu166Gly)
c.494A>G (p.Glu165Gly)
 dbSNP
19g.15192142T>GCA404533839NOTCH3c.497A>C (p.Glu166Ala)
c.494A>C (p.Glu165Ala)

Number of alleles fetched