Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.119915548A=CA1192514440NOTCH2c.7174T= (p.Tyr2392=)
c.7057T= (p.Tyr2353=)
c.7162T= (p.Tyr2388=)
1g.119915548A>CCA1039309NOTCH2c.7174T>G (p.Tyr2392Asp)
c.7057T>G (p.Tyr2353Asp)
c.7162T>G (p.Tyr2388Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.119915548A>GCA341872909NOTCH2c.7174T>C (p.Tyr2392His)
c.7057T>C (p.Tyr2353His)
c.7162T>C (p.Tyr2388His)
 ClinVar dbSNP
1g.119915548A>TCA341872905NOTCH2c.7174T>A (p.Tyr2392Asn)
c.7057T>A (p.Tyr2353Asn)
c.7162T>A (p.Tyr2388Asn)
1g.119915549dupCA420189290NOTCH2c.7174dup (p.Tyr2392LeufsTer8)
c.7057dup (p.Tyr2353LeufsTer8)
c.7162dup (p.Tyr2388LeufsTer8)
1g.119915549A>CCA341872919NOTCH2c.7173T>G (p.Ser2391Arg)
c.7056T>G (p.Ser2352Arg)
c.7161T>G (p.Ser2387Arg)
1g.119915549A>GCA420189293NOTCH2c.7173T>C (p.Ser2391=)
c.7056T>C (p.Ser2352=)
c.7161T>C (p.Ser2387=)
 gnomAD v4
1g.119915549A>TCA341872921NOTCH2c.7173T>A (p.Ser2391Arg)
c.7056T>A (p.Ser2352Arg)
c.7161T>A (p.Ser2387Arg)
1g.119915550C>ACA341872938NOTCH2c.7172G>T (p.Ser2391Ile)
c.7055G>T (p.Ser2352Ile)
c.7160G>T (p.Ser2387Ile)
1g.119915550C>GCA341872944NOTCH2c.7172G>C (p.Ser2391Thr)
c.7055G>C (p.Ser2352Thr)
c.7160G>C (p.Ser2387Thr)
 dbSNP
1g.119915550C>TCA341872947NOTCH2c.7172G>A (p.Ser2391Asn)
c.7055G>A (p.Ser2352Asn)
c.7160G>A (p.Ser2387Asn)
1g.119915551T>ACA341872949NOTCH2c.7171A>T (p.Ser2391Cys)
c.7054A>T (p.Ser2352Cys)
c.7159A>T (p.Ser2387Cys)
1g.119915551T>CCA341872953NOTCH2c.7171A>G (p.Ser2391Gly)
c.7054A>G (p.Ser2352Gly)
c.7159A>G (p.Ser2387Gly)
1g.119915551T>GCA341872955NOTCH2c.7171A>C (p.Ser2391Arg)
c.7054A>C (p.Ser2352Arg)
c.7159A>C (p.Ser2387Arg)
1g.119915553_119915554delCA2647410991NOTCH2c.7170_7171del (p.His2390GlnfsTer9)
c.7053_7054del (p.His2351GlnfsTer9)
c.7158_7159del (p.His2386GlnfsTer9)
 gnomAD v4
1g.119915552G>ACA420189296NOTCH2c.7170C>T (p.His2390=)
c.7053C>T (p.His2351=)
c.7158C>T (p.His2386=)
1g.119915552G>CCA341872958NOTCH2c.7170C>G (p.His2390Gln)
c.7053C>G (p.His2351Gln)
c.7158C>G (p.His2386Gln)
1g.119915552G>TCA341872961NOTCH2c.7170C>A (p.His2390Gln)
c.7053C>A (p.His2351Gln)
c.7158C>A (p.His2386Gln)
1g.119915553T>ACA341872964NOTCH2c.7169A>T (p.His2390Leu)
c.7052A>T (p.His2351Leu)
c.7157A>T (p.His2386Leu)
 dbSNP
1g.119915553T>CCA341872965NOTCH2c.7169A>G (p.His2390Arg)
c.7052A>G (p.His2351Arg)
c.7157A>G (p.His2386Arg)
1g.119915553T>GCA341872967NOTCH2c.7169A>C (p.His2390Pro)
c.7052A>C (p.His2351Pro)
c.7157A>C (p.His2386Pro)
1g.119915554G>ACA341872969NOTCH2c.7168C>T (p.His2390Tyr)
c.7051C>T (p.His2351Tyr)
c.7156C>T (p.His2386Tyr)
 dbSNP gnomAD v4
1g.119915554G>CCA341872973NOTCH2c.7168C>G (p.His2390Asp)
c.7051C>G (p.His2351Asp)
c.7156C>G (p.His2386Asp)
1g.119915554G=CA1192514441NOTCH2c.7168C= (p.His2390=)
c.7051C= (p.His2351=)
c.7156C= (p.His2386=)
1g.119915554G>TCA341872971NOTCH2c.7168C>A (p.His2390Asn)
c.7051C>A (p.His2351Asn)
c.7156C>A (p.His2386Asn)
1g.119915555C>ACA341872977NOTCH2c.7167G>T (p.Gln2389His)
c.7050G>T (p.Gln2350His)
c.7155G>T (p.Gln2385His)
 dbSNP
1g.119915555C=CA1192514442NOTCH2c.7167G= (p.Gln2389=)
c.7050G= (p.Gln2350=)
c.7155G= (p.Gln2385=)
1g.119915555C>GCA341872980NOTCH2c.7167G>C (p.Gln2389His)
c.7050G>C (p.Gln2350His)
c.7155G>C (p.Gln2385His)
 dbSNP
1g.119915555C>TCA420189300NOTCH2c.7167G>A (p.Gln2389=)
c.7050G>A (p.Gln2350=)
c.7155G>A (p.Gln2385=)
 dbSNP gnomAD v4
1g.119915556T>ACA341872983NOTCH2c.7166A>T (p.Gln2389Leu)
c.7049A>T (p.Gln2350Leu)
c.7154A>T (p.Gln2385Leu)
1g.119915556T>CCA341872984NOTCH2c.7166A>G (p.Gln2389Arg)
c.7049A>G (p.Gln2350Arg)
c.7154A>G (p.Gln2385Arg)
1g.119915556T>GCA341872985NOTCH2c.7166A>C (p.Gln2389Pro)
c.7049A>C (p.Gln2350Pro)
c.7154A>C (p.Gln2385Pro)
1g.119915557G>ACA128901NOTCH2c.7165C>T (p.Gln2389Ter)
c.7048C>T (p.Gln2350Ter)
c.7153C>T (p.Gln2385Ter)
 ClinVar dbSNP
1g.119915557G>CCA341872988NOTCH2c.7165C>G (p.Gln2389Glu)
c.7048C>G (p.Gln2350Glu)
c.7153C>G (p.Gln2385Glu)
1g.119915557G=CA1144228948NOTCH2c.7165C= (p.Gln2389=)
c.7048C= (p.Gln2350=)
c.7153C= (p.Gln2385=)
1g.119915557G>TCA341872990NOTCH2c.7165C>A (p.Gln2389Lys)
c.7048C>A (p.Gln2350Lys)
c.7153C>A (p.Gln2385Lys)
 gnomAD v4
1g.119915558T>ACA420189306NOTCH2c.7164A>T (p.Ser2388=)
c.7047A>T (p.Ser2349=)
c.7152A>T (p.Ser2384=)
 dbSNP
1g.119915558T>CCA420189307NOTCH2c.7164A>G (p.Ser2388=)
c.7047A>G (p.Ser2349=)
c.7152A>G (p.Ser2384=)
 dbSNP
1g.119915558T>GCA420189308NOTCH2c.7164A>C (p.Ser2388=)
c.7047A>C (p.Ser2349=)
c.7152A>C (p.Ser2384=)
1g.119915558T=CA1192514443NOTCH2c.7164A= (p.Ser2388=)
c.7047A= (p.Ser2349=)
c.7152A= (p.Ser2384=)
1g.119915559G>ACA341872993NOTCH2c.7163C>T (p.Ser2388Leu)
c.7046C>T (p.Ser2349Leu)
c.7151C>T (p.Ser2384Leu)
 COSMIC
1g.119915559G>CCA341872995NOTCH2c.7163C>G (p.Ser2388Ter)
c.7046C>G (p.Ser2349Ter)
c.7151C>G (p.Ser2384Ter)
 COSMIC
1g.119915559G>TCA341872997NOTCH2c.7163C>A (p.Ser2388Ter)
c.7046C>A (p.Ser2349Ter)
c.7151C>A (p.Ser2384Ter)
1g.119915560A>CCA341873006NOTCH2c.7162T>G (p.Ser2388Ala)
c.7045T>G (p.Ser2349Ala)
c.7150T>G (p.Ser2384Ala)
1g.119915560A>GCA341873008NOTCH2c.7162T>C (p.Ser2388Pro)
c.7045T>C (p.Ser2349Pro)
c.7150T>C (p.Ser2384Pro)
1g.119915560A>TCA341873005NOTCH2c.7162T>A (p.Ser2388Thr)
c.7045T>A (p.Ser2349Thr)
c.7150T>A (p.Ser2384Thr)
1g.119915561A>CCA420189319NOTCH2c.7161T>G (p.Pro2387=)
c.7044T>G (p.Pro2348=)
c.7149T>G (p.Pro2383=)
1g.119915561A>GCA420189317NOTCH2c.7161T>C (p.Pro2387=)
c.7044T>C (p.Pro2348=)
c.7149T>C (p.Pro2383=)
1g.119915561A>TCA420189316NOTCH2c.7161T>A (p.Pro2387=)
c.7044T>A (p.Pro2348=)
c.7149T>A (p.Pro2383=)
1g.119915562G>ACA341873020NOTCH2c.7160C>T (p.Pro2387Leu)
c.7043C>T (p.Pro2348Leu)
c.7148C>T (p.Pro2383Leu)
 dbSNP

Number of alleles fetched