Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.136517739_136517740dupCA2497273459NOTCH1c.1441+14_1441+15dup (n.1441+14_1441+15dup)
c.*677+14_*677+15dup (n.*677+14_*677+15dup)
c.742+14_742+15dup (n.742+14_742+15dup)
c.718+14_718+15dup (n.718+14_718+15dup)
 dbSNP gnomAD v3 gnomAD v4
9g.136517740delCA2692642782NOTCH1c.1441+15del (n.1441+15del)
c.*677+15del (n.*677+15del)
c.742+15del (n.742+15del)
c.718+15del (n.718+15del)
 gnomAD v4
9g.136517739C>ACA2720767115NOTCH1c.1441+13G>T (n.1441+13G>T)
c.*677+13G>T (n.*677+13G>T)
c.742+13G>T (n.742+13G>T)
c.718+13G>T (n.718+13G>T)
 dbSNP
9g.136517739C>GCA5341803NOTCH1c.1441+13G>C (n.1441+13G>C)
c.*677+13G>C (n.*677+13G>C)
c.742+13G>C (n.742+13G>C)
c.718+13G>C (n.718+13G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517740C>TCA201587550NOTCH1c.1441+12G>A (n.1441+12G>A)
c.*677+12G>A (n.*677+12G>A)
c.742+12G>A (n.742+12G>A)
c.718+12G>A (n.718+12G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136517741G>ACA5341805NOTCH1c.1441+11C>T (n.1441+11C>T)
c.*677+11C>T (n.*677+11C>T)
c.742+11C>T (n.742+11C>T)
c.718+11C>T (n.718+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517741G>CCA2692642784NOTCH1c.1441+11C>G (n.1441+11C>G)
c.*677+11C>G (n.*677+11C>G)
c.742+11C>G (n.742+11C>G)
c.718+11C>G (n.718+11C>G)
 dbSNP gnomAD v4
9g.136517741G>TCA5341806NOTCH1c.1441+11C>A (n.1441+11C>A)
c.*677+11C>A (n.*677+11C>A)
c.742+11C>A (n.742+11C>A)
c.718+11C>A (n.718+11C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517742delCA5341804NOTCH1c.1441+11del (n.1441+11del)
c.*677+11del (n.*677+11del)
c.742+11del (n.742+11del)
c.718+11del (n.718+11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517742G>ACA861080037NOTCH1c.1441+10C>T (n.1441+10C>T)
c.*677+10C>T (n.*677+10C>T)
c.742+10C>T (n.742+10C>T)
c.718+10C>T (n.718+10C>T)
 dbSNP gnomAD v4
9g.136517742G>CCA2720787376NOTCH1c.1441+10C>G (n.1441+10C>G)
c.*677+10C>G (n.*677+10C>G)
c.742+10C>G (n.742+10C>G)
c.718+10C>G (n.718+10C>G)
 dbSNP
9g.136517743C>GCA2692642785NOTCH1c.1441+9G>C (n.1441+9G>C)
c.*677+9G>C (n.*677+9G>C)
c.742+9G>C (n.742+9G>C)
c.718+9G>C (n.718+9G>C)
 gnomAD v4
9g.136517743C>TCA2692642786NOTCH1c.1441+9G>A (n.1441+9G>A)
c.*677+9G>A (n.*677+9G>A)
c.742+9G>A (n.742+9G>A)
c.718+9G>A (n.718+9G>A)
 dbSNP gnomAD v4
9g.136517744C>TCA5341807NOTCH1c.1441+8G>A (n.1441+8G>A)
c.*677+8G>A (n.*677+8G>A)
c.742+8G>A (n.742+8G>A)
c.718+8G>A (n.718+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517745G>ACA5341808NOTCH1c.1441+7C>T (n.1441+7C>T)
c.*677+7C>T (n.*677+7C>T)
c.742+7C>T (n.742+7C>T)
c.718+7C>T (n.718+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517745G>CCA861080045NOTCH1c.1441+7C>G (n.1441+7C>G)
c.*677+7C>G (n.*677+7C>G)
c.742+7C>G (n.742+7C>G)
c.718+7C>G (n.718+7C>G)
 dbSNP
9g.136517745G=CA2573049766NOTCH1c.1441+7C= (n.1441+7C=)
c.*677+7C= (n.*677+7C=)
c.742+7C= (n.742+7C=)
c.718+7C= (n.718+7C=)
9g.136517745G>TCA2580896924NOTCH1c.1441+7C>A (n.1441+7C>A)
c.*677+7C>A (n.*677+7C>A)
c.742+7C>A (n.742+7C>A)
c.718+7C>A (n.718+7C>A)
9g.136517746A>CCA2721108063NOTCH1c.1441+6T>G (n.1441+6T>G)
c.*677+6T>G (n.*677+6T>G)
c.742+6T>G (n.742+6T>G)
c.718+6T>G (n.718+6T>G)
 dbSNP
9g.136517746A>TCA2721108062NOTCH1c.1441+6T>A (n.1441+6T>A)
c.*677+6T>A (n.*677+6T>A)
c.742+6T>A (n.742+6T>A)
c.718+6T>A (n.718+6T>A)
 dbSNP
9g.136517747C>TCA5341809NOTCH1c.1441+5G>A (n.1441+5G>A)
c.*677+5G>A (n.*677+5G>A)
c.742+5G>A (n.742+5G>A)
c.718+5G>A (n.718+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.136517748G>ACA5341810NOTCH1c.1441+4C>T (n.1441+4C>T)
c.*677+4C>T (n.*677+4C>T)
c.742+4C>T (n.742+4C>T)
c.718+4C>T (n.718+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517748G>CCA2720767120NOTCH1c.1441+4C>G (n.1441+4C>G)
c.*677+4C>G (n.*677+4C>G)
c.742+4C>G (n.742+4C>G)
c.718+4C>G (n.718+4C>G)
 dbSNP
9g.136517748G>TCA2720767123NOTCH1c.1441+4C>A (n.1441+4C>A)
c.*677+4C>A (n.*677+4C>A)
c.742+4C>A (n.742+4C>A)
c.718+4C>A (n.718+4C>A)
 dbSNP
9g.136517749C>GCA2721108065NOTCH1c.1441+3G>C (n.1441+3G>C)
c.*677+3G>C (n.*677+3G>C)
c.742+3G>C (n.742+3G>C)
c.718+3G>C (n.718+3G>C)
 dbSNP
9g.136517749C>TCA2721108066NOTCH1c.1441+3G>A (n.1441+3G>A)
c.*677+3G>A (n.*677+3G>A)
c.742+3G>A (n.742+3G>A)
c.718+3G>A (n.718+3G>A)
 dbSNP
9g.136517750A>CCA375562760NOTCH1c.1441+2T>G (n.1441+2T>G)
c.*677+2T>G (n.*677+2T>G)
c.742+2T>G (n.742+2T>G)
c.718+2T>G (n.718+2T>G)
 dbSNP
9g.136517750A>GCA375562762NOTCH1c.1441+2T>C (n.1441+2T>C)
c.*677+2T>C (n.*677+2T>C)
c.742+2T>C (n.742+2T>C)
c.718+2T>C (n.718+2T>C)
 COSMIC COSMIC
9g.136517750A>TCA375562764NOTCH1c.1441+2T>A (n.1441+2T>A)
c.*677+2T>A (n.*677+2T>A)
c.742+2T>A (n.742+2T>A)
c.718+2T>A (n.718+2T>A)
 dbSNP
9g.136517751C>ACA375562773NOTCH1c.1441+1G>T (n.1441+1G>T)
c.*677+1G>T (n.*677+1G>T)
c.742+1G>T (n.742+1G>T)
c.718+1G>T (n.718+1G>T)
 dbSNP
9g.136517751C>GCA375562774NOTCH1c.1441+1G>C (n.1441+1G>C)
c.*677+1G>C (n.*677+1G>C)
c.742+1G>C (n.742+1G>C)
c.718+1G>C (n.718+1G>C)
 dbSNP
9g.136517751C>TCA375562775NOTCH1c.1441+1G>A (n.1441+1G>A)
c.*677+1G>A (n.*677+1G>A)
c.742+1G>A (n.742+1G>A)
c.718+1G>A (n.718+1G>A)
 dbSNP COSMIC COSMIC
9g.136517752C>ACA375562776NOTCH1c.1441G>T (p.Gly481Cys)
c.*677G>T (n.*677G>T)
c.742G>T (p.Gly248Cys)
c.718G>T (p.Gly240Cys)
9g.136517752C>GCA375562777NOTCH1c.1441G>C (p.Gly481Arg)
c.*677G>C (n.*677G>C)
c.742G>C (p.Gly248Arg)
c.718G>C (p.Gly240Arg)
 ClinVar dbSNP COSMIC COSMIC
9g.136517752C>TCA375562778NOTCH1c.1441G>A (p.Gly481Ser)
c.*677G>A (n.*677G>A)
c.742G>A (p.Gly248Ser)
c.718G>A (p.Gly240Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.136517753G>ACA5341811NOTCH1c.1440C>T (p.Pro480=)
c.*676C>T (n.*676C>T)
c.741C>T (p.Pro247=)
c.717C>T (p.Pro239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517753G>CCA467718118NOTCH1c.1440C>G (p.Pro480=)
c.*676C>G (n.*676C>G)
c.741C>G (p.Pro247=)
c.717C>G (p.Pro239=)
 dbSNP
9g.136517753G>TCA5341812NOTCH1c.1440C>A (p.Pro480=)
c.*676C>A (n.*676C>A)
c.741C>A (p.Pro247=)
c.717C>A (p.Pro239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517754G>ACA375562781NOTCH1c.1439C>T (p.Pro480Leu)
c.*675C>T (n.*675C>T)
c.740C>T (p.Pro247Leu)
c.716C>T (p.Pro239Leu)
 dbSNP
9g.136517754G>CCA375562785NOTCH1c.1439C>G (p.Pro480Arg)
c.*675C>G (n.*675C>G)
c.740C>G (p.Pro247Arg)
c.716C>G (p.Pro239Arg)
 dbSNP
9g.136517754G>TCA375562783NOTCH1c.1439C>A (p.Pro480His)
c.*675C>A (n.*675C>A)
c.740C>A (p.Pro247His)
c.716C>A (p.Pro239His)
9g.136517755G>ACA375562786NOTCH1c.1438C>T (p.Pro480Ser)
c.*674C>T (n.*674C>T)
c.739C>T (p.Pro247Ser)
c.715C>T (p.Pro239Ser)
 dbSNP
9g.136517755G>CCA375562787NOTCH1c.1438C>G (p.Pro480Ala)
c.*674C>G (n.*674C>G)
c.739C>G (p.Pro247Ala)
c.715C>G (p.Pro239Ala)
 dbSNP gnomAD v4
9g.136517755G>TCA375562789NOTCH1c.1438C>A (p.Pro480Thr)
c.*674C>A (n.*674C>A)
c.739C>A (p.Pro247Thr)
c.715C>A (p.Pro239Thr)
9g.136517756C>ACA375562792NOTCH1c.1437G>T (p.Met479Ile)
c.*673G>T (n.*673G>T)
c.738G>T (p.Met246Ile)
c.714G>T (p.Met238Ile)
 gnomAD v4
9g.136517756C>GCA375562794NOTCH1c.1437G>C (p.Met479Ile)
c.*673G>C (n.*673G>C)
c.738G>C (p.Met246Ile)
c.714G>C (p.Met238Ile)
 dbSNP
9g.136517756C>TCA201587556NOTCH1c.1437G>A (p.Met479Ile)
c.*673G>A (n.*673G>A)
c.738G>A (p.Met246Ile)
c.714G>A (p.Met238Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.136517757A>CCA375562795NOTCH1c.1436T>G (p.Met479Arg)
c.*672T>G (n.*672T>G)
c.737T>G (p.Met246Arg)
c.713T>G (p.Met238Arg)
9g.136517757A>GCA375562797NOTCH1c.1436T>C (p.Met479Thr)
c.*672T>C (n.*672T>C)
c.737T>C (p.Met246Thr)
c.713T>C (p.Met238Thr)
9g.136517757A>TCA375562800NOTCH1c.1436T>A (p.Met479Lys)
c.*672T>A (n.*672T>A)
c.737T>A (p.Met246Lys)
c.713T>A (p.Met238Lys)
 dbSNP
9g.136517758T>ACA375562802NOTCH1c.1435A>T (p.Met479Leu)
c.*671A>T (n.*671A>T)
c.736A>T (p.Met246Leu)
c.712A>T (p.Met238Leu)
 dbSNP
9g.136517758T>CCA375562804NOTCH1c.1435A>G (p.Met479Val)
c.*671A>G (n.*671A>G)
c.736A>G (p.Met246Val)
c.712A>G (p.Met238Val)
 dbSNP gnomAD v3 gnomAD v4
9g.136517758T>GCA375562805NOTCH1c.1435A>C (p.Met479Leu)
c.*671A>C (n.*671A>C)
c.736A>C (p.Met246Leu)
c.712A>C (p.Met238Leu)
 dbSNP
9g.136517759G>ACA467718123NOTCH1c.1434C>T (p.Cys478=)
c.*670C>T (n.*670C>T)
c.735C>T (p.Cys245=)
c.711C>T (p.Cys237=)
 dbSNP
9g.136517759G>CCA375562808NOTCH1c.1434C>G (p.Cys478Trp)
c.*670C>G (n.*670C>G)
c.735C>G (p.Cys245Trp)
c.711C>G (p.Cys237Trp)
 dbSNP
9g.136517759G>TCA375562809NOTCH1c.1434C>A (p.Cys478Ter)
c.*670C>A (n.*670C>A)
c.735C>A (p.Cys245Ter)
c.711C>A (p.Cys237Ter)
9g.136517760C>ACA375562810NOTCH1c.1433G>T (p.Cys478Phe)
c.*669G>T (n.*669G>T)
c.734G>T (p.Cys245Phe)
c.710G>T (p.Cys237Phe)
 COSMIC COSMIC
9g.136517760C>GCA375562811NOTCH1c.1433G>C (p.Cys478Ser)
c.*669G>C (n.*669G>C)
c.734G>C (p.Cys245Ser)
c.710G>C (p.Cys237Ser)
 dbSNP
9g.136517760C>TCA375562813NOTCH1c.1433G>A (p.Cys478Tyr)
c.*669G>A (n.*669G>A)
c.734G>A (p.Cys245Tyr)
c.710G>A (p.Cys237Tyr)
 dbSNP
9g.136517761A>CCA375562815NOTCH1c.1432T>G (p.Cys478Gly)
c.*668T>G (n.*668T>G)
c.733T>G (p.Cys245Gly)
c.709T>G (p.Cys237Gly)
9g.136517761A>GCA375562817NOTCH1c.1432T>C (p.Cys478Arg)
c.*668T>C (n.*668T>C)
c.733T>C (p.Cys245Arg)
c.709T>C (p.Cys237Arg)
 dbSNP
9g.136517761A>TCA375562818NOTCH1c.1432T>A (p.Cys478Ser)
c.*668T>A (n.*668T>A)
c.733T>A (p.Cys245Ser)
c.709T>A (p.Cys237Ser)
 dbSNP
9g.136517762G>ACA467718125NOTCH1c.1431C>T (p.Ile477=)
c.*667C>T (n.*667C>T)
c.732C>T (p.Ile244=)
c.708C>T (p.Ile236=)
 dbSNP gnomAD v4
9g.136517762G>CCA375562819NOTCH1c.1431C>G (p.Ile477Met)
c.*667C>G (n.*667C>G)
c.732C>G (p.Ile244Met)
c.708C>G (p.Ile236Met)
 dbSNP
9g.136517762G>TCA467718124NOTCH1c.1431C>A (p.Ile477=)
c.*667C>A (n.*667C>A)
c.732C>A (p.Ile244=)
c.708C>A (p.Ile236=)
9g.136517763A>CCA375562821NOTCH1c.1430T>G (p.Ile477Ser)
c.*666T>G (n.*666T>G)
c.731T>G (p.Ile244Ser)
c.707T>G (p.Ile236Ser)
9g.136517763A>GCA375562823NOTCH1c.1430T>C (p.Ile477Thr)
c.*666T>C (n.*666T>C)
c.731T>C (p.Ile244Thr)
c.707T>C (p.Ile236Thr)
 dbSNP COSMIC COSMIC
9g.136517763A>TCA375562824NOTCH1c.1430T>A (p.Ile477Asn)
c.*666T>A (n.*666T>A)
c.731T>A (p.Ile244Asn)
c.707T>A (p.Ile236Asn)
 ClinVar dbSNP
9g.136517764T>ACA375562826NOTCH1c.1429A>T (p.Ile477Phe)
c.*665A>T (n.*665A>T)
c.730A>T (p.Ile244Phe)
c.706A>T (p.Ile236Phe)
 dbSNP
9g.136517764T>CCA375562827NOTCH1c.1429A>G (p.Ile477Val)
c.*665A>G (n.*665A>G)
c.730A>G (p.Ile244Val)
c.706A>G (p.Ile236Val)
9g.136517764T>GCA375562828NOTCH1c.1429A>C (p.Ile477Leu)
c.*665A>C (n.*665A>C)
c.730A>C (p.Ile244Leu)
c.706A>C (p.Ile236Leu)
 dbSNP
9g.136517765G>ACA5341813NOTCH1c.1428C>T (p.Cys476=)
c.*664C>T (n.*664C>T)
c.729C>T (p.Cys243=)
c.705C>T (p.Cys235=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.136517765G>CCA375562834NOTCH1c.1428C>G (p.Cys476Trp)
c.*664C>G (n.*664C>G)
c.729C>G (p.Cys243Trp)
c.705C>G (p.Cys235Trp)
 dbSNP
9g.136517765G>TCA375562832NOTCH1c.1428C>A (p.Cys476Ter)
c.*664C>A (n.*664C>A)
c.729C>A (p.Cys243Ter)
c.705C>A (p.Cys235Ter)
 dbSNP
9g.136517766C>ACA375562836NOTCH1c.1427G>T (p.Cys476Phe)
c.*663G>T (n.*663G>T)
c.728G>T (p.Cys243Phe)
c.704G>T (p.Cys235Phe)
 dbSNP
9g.136517766C>GCA375562837NOTCH1c.1427G>C (p.Cys476Ser)
c.*663G>C (n.*663G>C)
c.728G>C (p.Cys243Ser)
c.704G>C (p.Cys235Ser)
 dbSNP
9g.136517766C>TCA375562839NOTCH1c.1427G>A (p.Cys476Tyr)
c.*663G>A (n.*663G>A)
c.728G>A (p.Cys243Tyr)
c.704G>A (p.Cys235Tyr)
 dbSNP
9g.136517767A>CCA375562840NOTCH1c.1426T>G (p.Cys476Gly)
c.*662T>G (n.*662T>G)
c.727T>G (p.Cys243Gly)
c.703T>G (p.Cys235Gly)
 dbSNP
9g.136517767A>GCA375562841NOTCH1c.1426T>C (p.Cys476Arg)
c.*662T>C (n.*662T>C)
c.727T>C (p.Cys243Arg)
c.703T>C (p.Cys235Arg)
9g.136517767A>TCA375562844NOTCH1c.1426T>A (p.Cys476Ser)
c.*662T>A (n.*662T>A)
c.727T>A (p.Cys243Ser)
c.703T>A (p.Cys235Ser)
 dbSNP
9g.136517768C>ACA375562850NOTCH1c.1425G>T (p.Gln475His)
c.*661G>T (n.*661G>T)
c.726G>T (p.Gln242His)
c.702G>T (p.Gln234His)
9g.136517768C>GCA375562854NOTCH1c.1425G>C (p.Gln475His)
c.*661G>C (n.*661G>C)
c.726G>C (p.Gln242His)
c.702G>C (p.Gln234His)
 dbSNP
9g.136517768C>TCA467718133NOTCH1c.1425G>A (p.Gln475=)
c.*661G>A (n.*661G>A)
c.726G>A (p.Gln242=)
c.702G>A (p.Gln234=)
 dbSNP
9g.136517769T>ACA375562856NOTCH1c.1424A>T (p.Gln475Leu)
c.*660A>T (n.*660A>T)
c.725A>T (p.Gln242Leu)
c.701A>T (p.Gln234Leu)
9g.136517769T>CCA375562860NOTCH1c.1424A>G (p.Gln475Arg)
c.*660A>G (n.*660A>G)
c.725A>G (p.Gln242Arg)
c.701A>G (p.Gln234Arg)
9g.136517769T>GCA375562862NOTCH1c.1424A>C (p.Gln475Pro)
c.*660A>C (n.*660A>C)
c.725A>C (p.Gln242Pro)
c.701A>C (p.Gln234Pro)
9g.136517770G>ACA375562866NOTCH1c.1423C>T (p.Gln475Ter)
c.*659C>T (n.*659C>T)
c.724C>T (p.Gln242Ter)
c.700C>T (p.Gln234Ter)
 dbSNP
9g.136517770G>CCA375562864NOTCH1c.1423C>G (p.Gln475Glu)
c.*659C>G (n.*659C>G)
c.724C>G (p.Gln242Glu)
c.700C>G (p.Gln234Glu)
 dbSNP
9g.136517770G>TCA375562863NOTCH1c.1423C>A (p.Gln475Lys)
c.*659C>A (n.*659C>A)
c.724C>A (p.Gln242Lys)
c.700C>A (p.Gln234Lys)
9g.136517771delCA645562531NOTCH1c.1423del (p.Gln475SerfsTer?)
c.*659del (n.*659del)
c.724del (p.Gln242SerfsTer?)
c.700del (p.Gln234SerfsTer?)
 COSMIC COSMIC
9g.136517771G>ACA467718134NOTCH1c.1422C>T (p.Phe474=)
c.*658C>T (n.*658C>T)
c.723C>T (p.Phe241=)
c.699C>T (p.Phe233=)
 dbSNP
9g.136517771G>CCA375562867NOTCH1c.1422C>G (p.Phe474Leu)
c.*658C>G (n.*658C>G)
c.723C>G (p.Phe241Leu)
c.699C>G (p.Phe233Leu)
 dbSNP
9g.136517771G>TCA375562869NOTCH1c.1422C>A (p.Phe474Leu)
c.*658C>A (n.*658C>A)
c.723C>A (p.Phe241Leu)
c.699C>A (p.Phe233Leu)
 dbSNP
9g.136517772A>CCA375562870NOTCH1c.1421T>G (p.Phe474Cys)
c.*657T>G (n.*657T>G)
c.722T>G (p.Phe241Cys)
c.698T>G (p.Phe233Cys)
9g.136517772A>GCA375562871NOTCH1c.1421T>C (p.Phe474Ser)
c.*657T>C (n.*657T>C)
c.722T>C (p.Phe241Ser)
c.698T>C (p.Phe233Ser)
 dbSNP
9g.136517772A>TCA375562872NOTCH1c.1421T>A (p.Phe474Tyr)
c.*657T>A (n.*657T>A)
c.722T>A (p.Phe241Tyr)
c.698T>A (p.Phe233Tyr)
 dbSNP
9g.136517773A>CCA375562873NOTCH1c.1420T>G (p.Phe474Val)
c.*656T>G (n.*656T>G)
c.721T>G (p.Phe241Val)
c.697T>G (p.Phe233Val)
 dbSNP
9g.136517773A>GCA375562874NOTCH1c.1420T>C (p.Phe474Leu)
c.*656T>C (n.*656T>C)
c.721T>C (p.Phe241Leu)
c.697T>C (p.Phe233Leu)
 dbSNP
9g.136517773A>TCA375562875NOTCH1c.1420T>A (p.Phe474Ile)
c.*656T>A (n.*656T>A)
c.721T>A (p.Phe241Ile)
c.697T>A (p.Phe233Ile)
 dbSNP
9g.136517774C>ACA375562876NOTCH1c.1419G>T (p.Glu473Asp)
c.*655G>T (n.*655G>T)
c.720G>T (p.Glu240Asp)
c.696G>T (p.Glu232Asp)
9g.136517774C>GCA375562877NOTCH1c.1419G>C (p.Glu473Asp)
c.*655G>C (n.*655G>C)
c.720G>C (p.Glu240Asp)
c.696G>C (p.Glu232Asp)
 dbSNP
9g.136517774C>TCA467718137NOTCH1c.1419G>A (p.Glu473=)
c.*655G>A (n.*655G>A)
c.720G>A (p.Glu240=)
c.696G>A (p.Glu232=)
 dbSNP gnomAD v3 gnomAD v4
9g.136517775T>ACA375562879NOTCH1c.1418A>T (p.Glu473Val)
c.*654A>T (n.*654A>T)
c.719A>T (p.Glu240Val)
c.695A>T (p.Glu232Val)
9g.136517775T>CCA375562881NOTCH1c.1418A>G (p.Glu473Gly)
c.*654A>G (n.*654A>G)
c.719A>G (p.Glu240Gly)
c.695A>G (p.Glu232Gly)
9g.136517775T>GCA375562882NOTCH1c.1418A>C (p.Glu473Ala)
c.*654A>C (n.*654A>C)
c.719A>C (p.Glu240Ala)
c.695A>C (p.Glu232Ala)
9g.136517776C>ACA375562891NOTCH1c.1417G>T (p.Glu473Ter)
c.*653G>T (n.*653G>T)
c.718G>T (p.Glu240Ter)
c.694G>T (p.Glu232Ter)
9g.136517776C>GCA375562885NOTCH1c.1417G>C (p.Glu473Gln)
c.*653G>C (n.*653G>C)
c.718G>C (p.Glu240Gln)
c.694G>C (p.Glu232Gln)
 dbSNP
9g.136517776C>TCA375562883NOTCH1c.1417G>A (p.Glu473Lys)
c.*653G>A (n.*653G>A)
c.718G>A (p.Glu240Lys)
c.694G>A (p.Glu232Lys)
 dbSNP
9g.136517777C>ACA467718140NOTCH1c.1416G>T (p.Gly472=)
c.*652G>T (n.*652G>T)
c.717G>T (p.Gly239=)
c.693G>T (p.Gly231=)
9g.136517777C>GCA467718141NOTCH1c.1416G>C (p.Gly472=)
c.*652G>C (n.*652G>C)
c.717G>C (p.Gly239=)
c.693G>C (p.Gly231=)
9g.136517777C>TCA467718142NOTCH1c.1416G>A (p.Gly472=)
c.*652G>A (n.*652G>A)
c.717G>A (p.Gly239=)
c.693G>A (p.Gly231=)
 dbSNP COSMIC COSMIC
9g.136517778C>ACA375562894NOTCH1c.1415G>T (p.Gly472Val)
c.*651G>T (n.*651G>T)
c.716G>T (p.Gly239Val)
c.692G>T (p.Gly231Val)
 dbSNP
9g.136517778C>GCA375562893NOTCH1c.1415G>C (p.Gly472Ala)
c.*651G>C (n.*651G>C)
c.716G>C (p.Gly239Ala)
c.692G>C (p.Gly231Ala)
 dbSNP
9g.136517778C>TCA375562896NOTCH1c.1415G>A (p.Gly472Glu)
c.*651G>A (n.*651G>A)
c.716G>A (p.Gly239Glu)
c.692G>A (p.Gly231Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.136517779C>ACA375562897NOTCH1c.1414G>T (p.Gly472Trp)
c.*650G>T (n.*650G>T)
c.715G>T (p.Gly239Trp)
c.691G>T (p.Gly231Trp)
9g.136517779C>GCA375562898NOTCH1c.1414G>C (p.Gly472Arg)
c.*650G>C (n.*650G>C)
c.715G>C (p.Gly239Arg)
c.691G>C (p.Gly231Arg)
9g.136517779C>TCA375562899NOTCH1c.1414G>A (p.Gly472Arg)
c.*650G>A (n.*650G>A)
c.715G>A (p.Gly239Arg)
c.691G>A (p.Gly231Arg)
9g.136517780A>CCA375562902NOTCH1c.1413T>G (p.Ile471Met)
c.*649T>G (n.*649T>G)
c.714T>G (p.Ile238Met)
c.690T>G (p.Ile230Met)
9g.136517780A>GCA467718144NOTCH1c.1413T>C (p.Ile471=)
c.*649T>C (n.*649T>C)
c.714T>C (p.Ile238=)
c.690T>C (p.Ile230=)
9g.136517780A>TCA467718145NOTCH1c.1413T>A (p.Ile471=)
c.*649T>A (n.*649T>A)
c.714T>A (p.Ile238=)
c.690T>A (p.Ile230=)
 dbSNP
9g.136517781A>CCA375562903NOTCH1c.1412T>G (p.Ile471Ser)
c.*648T>G (n.*648T>G)
c.713T>G (p.Ile238Ser)
c.689T>G (p.Ile230Ser)
 dbSNP
9g.136517781A>GCA5341814NOTCH1c.1412T>C (p.Ile471Thr)
c.*648T>C (n.*648T>C)
c.713T>C (p.Ile238Thr)
c.689T>C (p.Ile230Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.136517781A>TCA375562905NOTCH1c.1412T>A (p.Ile471Asn)
c.*648T>A (n.*648T>A)
c.713T>A (p.Ile238Asn)
c.689T>A (p.Ile230Asn)
 dbSNP
9g.136517782T>ACA375562907NOTCH1c.1411A>T (p.Ile471Phe)
c.*647A>T (n.*647A>T)
c.712A>T (p.Ile238Phe)
c.688A>T (p.Ile230Phe)
 dbSNP
9g.136517782T>CCA375562910NOTCH1c.1411A>G (p.Ile471Val)
c.*647A>G (n.*647A>G)
c.712A>G (p.Ile238Val)
c.688A>G (p.Ile230Val)
 dbSNP
9g.136517782T>GCA375562911NOTCH1c.1411A>C (p.Ile471Leu)
c.*647A>C (n.*647A>C)
c.712A>C (p.Ile238Leu)
c.688A>C (p.Ile230Leu)
 dbSNP
9g.136517783C>ACA375562913NOTCH1c.1410G>T (p.Gln470His)
c.*646G>T (n.*646G>T)
c.711G>T (p.Gln237His)
c.687G>T (p.Gln229His)
 dbSNP
9g.136517783C>GCA375562914NOTCH1c.1410G>C (p.Gln470His)
c.*646G>C (n.*646G>C)
c.711G>C (p.Gln237His)
c.687G>C (p.Gln229His)
 dbSNP
9g.136517783C>TCA5341815NOTCH1c.1410G>A (p.Gln470=)
c.*646G>A (n.*646G>A)
c.711G>A (p.Gln237=)
c.687G>A (p.Gln229=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.136517784T>ACA375562917NOTCH1c.1409A>T (p.Gln470Leu)
c.*645A>T (n.*645A>T)
c.710A>T (p.Gln237Leu)
c.686A>T (p.Gln229Leu)
9g.136517784T>CCA375562916NOTCH1c.1409A>G (p.Gln470Arg)
c.*645A>G (n.*645A>G)
c.710A>G (p.Gln237Arg)
c.686A>G (p.Gln229Arg)
9g.136517784T>GCA375562915NOTCH1c.1409A>C (p.Gln470Pro)
c.*645A>C (n.*645A>C)
c.710A>C (p.Gln237Pro)
c.686A>C (p.Gln229Pro)
9g.136517785G>ACA375562919NOTCH1c.1408C>T (p.Gln470Ter)
c.*644C>T (n.*644C>T)
c.709C>T (p.Gln237Ter)
c.685C>T (p.Gln229Ter)
 dbSNP
9g.136517785G>CCA375562920NOTCH1c.1408C>G (p.Gln470Glu)
c.*644C>G (n.*644C>G)
c.709C>G (p.Gln237Glu)
c.685C>G (p.Gln229Glu)
 dbSNP
9g.136517785G>TCA375562922NOTCH1c.1408C>A (p.Gln470Lys)
c.*644C>A (n.*644C>A)
c.709C>A (p.Gln237Lys)
c.685C>A (p.Gln229Lys)
9g.136517786G>ACA467718148NOTCH1c.1407C>T (p.Asp469=)
c.*643C>T (n.*643C>T)
c.708C>T (p.Asp236=)
c.684C>T (p.Asp228=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136517786G>CCA375562924NOTCH1c.1407C>G (p.Asp469Glu)
c.*643C>G (n.*643C>G)
c.708C>G (p.Asp236Glu)
c.684C>G (p.Asp228Glu)
 dbSNP
9g.136517786G>TCA375562925NOTCH1c.1407C>A (p.Asp469Glu)
c.*643C>A (n.*643C>A)
c.708C>A (p.Asp236Glu)
c.684C>A (p.Asp228Glu)
9g.136517787_136517795delCA2497273463NOTCH1c.1399_1407del (p.Cys467_Asp469del)
c.*635_*643del (n.*635_*643del)
c.700_708del (p.Cys234_Asp236del)
c.676_684del (p.Cys226_Asp228del)
 dbSNP
9g.136517787T>ACA375562927NOTCH1c.1406A>T (p.Asp469Val)
c.*642A>T (n.*642A>T)
c.707A>T (p.Asp236Val)
c.683A>T (p.Asp228Val)
9g.136517787T>CCA375562928NOTCH1c.1406A>G (p.Asp469Gly)
c.*642A>G (n.*642A>G)
c.707A>G (p.Asp236Gly)
c.683A>G (p.Asp228Gly)
 gnomAD v4 COSMIC COSMIC
9g.136517787T>GCA375562930NOTCH1c.1406A>C (p.Asp469Ala)
c.*642A>C (n.*642A>C)
c.707A>C (p.Asp236Ala)
c.683A>C (p.Asp228Ala)
9g.136517788C>ACA375562931NOTCH1c.1405G>T (p.Asp469Tyr)
c.*641G>T (n.*641G>T)
c.706G>T (p.Asp236Tyr)
c.682G>T (p.Asp228Tyr)
 dbSNP COSMIC COSMIC
9g.136517788C>GCA375562932NOTCH1c.1405G>C (p.Asp469His)
c.*641G>C (n.*641G>C)
c.706G>C (p.Asp236His)
c.682G>C (p.Asp228His)
 dbSNP
9g.136517788C>TCA375562933NOTCH1c.1405G>A (p.Asp469Asn)
c.*641G>A (n.*641G>A)
c.706G>A (p.Asp236Asn)
c.682G>A (p.Asp228Asn)
 dbSNP COSMIC COSMIC
9g.136517789delCA2721108135NOTCH1c.1405del (p.Asp469ThrfsTer?)
c.*641del (n.*641del)
c.706del (p.Asp236ThrfsTer?)
c.682del (p.Asp228ThrfsTer?)
 dbSNP
9g.136517789C>ACA467718152NOTCH1c.1404G>T (p.Leu468=)
c.*640G>T (n.*640G>T)
c.705G>T (p.Leu235=)
c.681G>T (p.Leu227=)
 dbSNP
9g.136517789C>GCA467718153NOTCH1c.1404G>C (p.Leu468=)
c.*640G>C (n.*640G>C)
c.705G>C (p.Leu235=)
c.681G>C (p.Leu227=)
9g.136517789C>TCA467718155NOTCH1c.1404G>A (p.Leu468=)
c.*640G>A (n.*640G>A)
c.705G>A (p.Leu235=)
c.681G>A (p.Leu227=)
 dbSNP
9g.136517790A>CCA375562935NOTCH1c.1403T>G (p.Leu468Arg)
c.*639T>G (n.*639T>G)
c.704T>G (p.Leu235Arg)
c.680T>G (p.Leu227Arg)
9g.136517790A>GCA375562936NOTCH1c.1403T>C (p.Leu468Pro)
c.*639T>C (n.*639T>C)
c.704T>C (p.Leu235Pro)
c.680T>C (p.Leu227Pro)
 dbSNP
9g.136517790A>TCA375562937NOTCH1c.1403T>A (p.Leu468Gln)
c.*639T>A (n.*639T>A)
c.704T>A (p.Leu235Gln)
c.680T>A (p.Leu227Gln)
 dbSNP
9g.136517791G>ACA5341816NOTCH1c.1402C>T (p.Leu468=)
c.*638C>T (n.*638C>T)
c.703C>T (p.Leu235=)
c.679C>T (p.Leu227=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.136517791G>CCA375562939NOTCH1c.1402C>G (p.Leu468Val)
c.*638C>G (n.*638C>G)
c.703C>G (p.Leu235Val)
c.679C>G (p.Leu227Val)
 dbSNP
9g.136517791G>TCA375562938NOTCH1c.1402C>A (p.Leu468Met)
c.*638C>A (n.*638C>A)
c.703C>A (p.Leu235Met)
c.679C>A (p.Leu227Met)
 dbSNP
9g.136517792G>ACA467718157NOTCH1c.1401C>T (p.Cys467=)
c.*637C>T (n.*637C>T)
c.702C>T (p.Cys234=)
c.678C>T (p.Cys226=)
 dbSNP
9g.136517792G>CCA375562940NOTCH1c.1401C>G (p.Cys467Trp)
c.*637C>G (n.*637C>G)
c.702C>G (p.Cys234Trp)
c.678C>G (p.Cys226Trp)
 dbSNP
9g.136517792G>TCA375562941NOTCH1c.1401C>A (p.Cys467Ter)
c.*637C>A (n.*637C>A)
c.702C>A (p.Cys234Ter)
c.678C>A (p.Cys226Ter)
9g.136517793C>ACA375562942NOTCH1c.1400G>T (p.Cys467Phe)
c.*636G>T (n.*636G>T)
c.701G>T (p.Cys234Phe)
c.677G>T (p.Cys226Phe)
 dbSNP COSMIC COSMIC
9g.136517793C>GCA375562943NOTCH1c.1400G>C (p.Cys467Ser)
c.*636G>C (n.*636G>C)
c.701G>C (p.Cys234Ser)
c.677G>C (p.Cys226Ser)
 dbSNP
9g.136517793C>TCA375562944NOTCH1c.1400G>A (p.Cys467Tyr)
c.*636G>A (n.*636G>A)
c.701G>A (p.Cys234Tyr)
c.677G>A (p.Cys226Tyr)
 dbSNP COSMIC COSMIC
9g.136517794A>CCA375562946NOTCH1c.1399T>G (p.Cys467Gly)
c.*635T>G (n.*635T>G)
c.700T>G (p.Cys234Gly)
c.676T>G (p.Cys226Gly)
9g.136517794A>GCA375562947NOTCH1c.1399T>C (p.Cys467Arg)
c.*635T>C (n.*635T>C)
c.700T>C (p.Cys234Arg)
c.676T>C (p.Cys226Arg)
 dbSNP
9g.136517794A>TCA375562948NOTCH1c.1399T>A (p.Cys467Ser)
c.*635T>A (n.*635T>A)
c.700T>A (p.Cys234Ser)
c.676T>A (p.Cys226Ser)
 dbSNP
9g.136517795G>ACA467718161NOTCH1c.1398C>T (p.Thr466=)
c.*634C>T (n.*634C>T)
c.699C>T (p.Thr233=)
c.675C>T (p.Thr225=)
 dbSNP gnomAD v4
9g.136517795G>CCA467718162NOTCH1c.1398C>G (p.Thr466=)
c.*634C>G (n.*634C>G)
c.699C>G (p.Thr233=)
c.675C>G (p.Thr225=)
 dbSNP
9g.136517795G>TCA467718163NOTCH1c.1398C>A (p.Thr466=)
c.*634C>A (n.*634C>A)
c.699C>A (p.Thr233=)
c.675C>A (p.Thr225=)
9g.136517796G>ACA375562950NOTCH1c.1397C>T (p.Thr466Ile)
c.*633C>T (n.*633C>T)
c.698C>T (p.Thr233Ile)
c.674C>T (p.Thr225Ile)
 dbSNP
9g.136517796G>CCA375562951NOTCH1c.1397C>G (p.Thr466Ser)
c.*633C>G (n.*633C>G)
c.698C>G (p.Thr233Ser)
c.674C>G (p.Thr225Ser)
 dbSNP
9g.136517796G>TCA375562952NOTCH1c.1397C>A (p.Thr466Asn)
c.*633C>A (n.*633C>A)
c.698C>A (p.Thr233Asn)
c.674C>A (p.Thr225Asn)
9g.136517797delCA891843341NOTCH1c.1396del (p.Thr466ProfsTer?)
c.*632del (n.*632del)
c.697del (p.Thr233ProfsTer?)
c.673del (p.Thr225ProfsTer?)
 ClinVar dbSNP
9g.136517797T>ACA375562957NOTCH1c.1396A>T (p.Thr466Ser)
c.*632A>T (n.*632A>T)
c.697A>T (p.Thr233Ser)
c.673A>T (p.Thr225Ser)
9g.136517797T>CCA375562956NOTCH1c.1396A>G (p.Thr466Ala)
c.*632A>G (n.*632A>G)
c.697A>G (p.Thr233Ala)
c.673A>G (p.Thr225Ala)
 dbSNP COSMIC
9g.136517797T>GCA375562954NOTCH1c.1396A>C (p.Thr466Pro)
c.*632A>C (n.*632A>C)
c.697A>C (p.Thr233Pro)
c.673A>C (p.Thr225Pro)
 dbSNP
9g.136517798G>ACA467718166NOTCH1c.1395C>T (p.Ala465=)
c.*631C>T (n.*631C>T)
c.696C>T (p.Ala232=)
c.672C>T (p.Ala224=)
 dbSNP
9g.136517798G>CCA467718168NOTCH1c.1395C>G (p.Ala465=)
c.*631C>G (n.*631C>G)
c.696C>G (p.Ala232=)
c.672C>G (p.Ala224=)
9g.136517798G>TCA467718171NOTCH1c.1395C>A (p.Ala465=)
c.*631C>A (n.*631C>A)
c.696C>A (p.Ala232=)
c.672C>A (p.Ala224=)
 dbSNP
9g.136517799G>ACA375562961NOTCH1c.1394C>T (p.Ala465Val)
c.*630C>T (n.*630C>T)
c.695C>T (p.Ala232Val)
c.671C>T (p.Ala224Val)
 dbSNP
9g.136517799G>CCA375562963NOTCH1c.1394C>G (p.Ala465Gly)
c.*630C>G (n.*630C>G)
c.695C>G (p.Ala232Gly)
c.671C>G (p.Ala224Gly)
 dbSNP
9g.136517799G>TCA375562964NOTCH1c.1394C>A (p.Ala465Asp)
c.*630C>A (n.*630C>A)
c.695C>A (p.Ala232Asp)
c.671C>A (p.Ala224Asp)
9g.136517800C>ACA375562966NOTCH1c.1393G>T (p.Ala465Ser)
c.*629G>T (n.*629G>T)
c.694G>T (p.Ala232Ser)
c.670G>T (p.Ala224Ser)
 dbSNP
9g.136517800C>GCA375562967NOTCH1c.1393G>C (p.Ala465Pro)
c.*629G>C (n.*629G>C)
c.694G>C (p.Ala232Pro)
c.670G>C (p.Ala224Pro)
 dbSNP
9g.136517800C>TCA16605792NOTCH1c.1393G>A (p.Ala465Thr)
c.*629G>A (n.*629G>A)
c.694G>A (p.Ala232Thr)
c.670G>A (p.Ala224Thr)
 ClinVar dbSNP COSMIC COSMIC
9g.136517801G>ACA5341817NOTCH1c.1392C>T (p.Asp464=)
c.*628C>T (n.*628C>T)
c.693C>T (p.Asp231=)
c.669C>T (p.Asp223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.136517801G>CCA375562971NOTCH1c.1392C>G (p.Asp464Glu)
c.*628C>G (n.*628C>G)
c.693C>G (p.Asp231Glu)
c.669C>G (p.Asp223Glu)
 dbSNP
9g.136517801G>TCA375562973NOTCH1c.1392C>A (p.Asp464Glu)
c.*628C>A (n.*628C>A)
c.693C>A (p.Asp231Glu)
c.669C>A (p.Asp223Glu)
9g.136517802T>ACA375562975NOTCH1c.1391A>T (p.Asp464Val)
c.*627A>T (n.*627A>T)
c.692A>T (p.Asp231Val)
c.668A>T (p.Asp223Val)
 dbSNP
9g.136517802T>CCA375562976NOTCH1c.1391A>G (p.Asp464Gly)
c.*627A>G (n.*627A>G)
c.692A>G (p.Asp231Gly)
c.668A>G (p.Asp223Gly)
 gnomAD v4
9g.136517802T>GCA375562977NOTCH1c.1391A>C (p.Asp464Ala)
c.*627A>C (n.*627A>C)
c.692A>C (p.Asp231Ala)
c.668A>C (p.Asp223Ala)
 dbSNP gnomAD v4
9g.136517803C>ACA375562983NOTCH1c.1390G>T (p.Asp464Tyr)
c.*626G>T (n.*626G>T)
c.691G>T (p.Asp231Tyr)
c.667G>T (p.Asp223Tyr)
 dbSNP
9g.136517803C>GCA375562980NOTCH1c.1390G>C (p.Asp464His)
c.*626G>C (n.*626G>C)
c.691G>C (p.Asp231His)
c.667G>C (p.Asp223His)
 dbSNP
9g.136517803C>TCA5341818NOTCH1c.1390G>A (p.Asp464Asn)
c.*626G>A (n.*626G>A)
c.691G>A (p.Asp231Asn)
c.667G>A (p.Asp223Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.136517804G>ACA5341819NOTCH1c.1389C>T (p.Asn463=)
c.*625C>T (n.*625C>T)
c.690C>T (p.Asn230=)
c.666C>T (p.Asn222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517804G>CCA375562984NOTCH1c.1389C>G (p.Asn463Lys)
c.*625C>G (n.*625C>G)
c.690C>G (p.Asn230Lys)
c.666C>G (p.Asn222Lys)
 dbSNP
9g.136517804G>TCA375562985NOTCH1c.1389C>A (p.Asn463Lys)
c.*625C>A (n.*625C>A)
c.690C>A (p.Asn230Lys)
c.666C>A (p.Asn222Lys)
 dbSNP
9g.136517805T>ACA375562987NOTCH1c.1388A>T (p.Asn463Ile)
c.*624A>T (n.*624A>T)
c.689A>T (p.Asn230Ile)
c.665A>T (p.Asn222Ile)
9g.136517805T>CCA375562989NOTCH1c.1388A>G (p.Asn463Ser)
c.*624A>G (n.*624A>G)
c.689A>G (p.Asn230Ser)
c.665A>G (p.Asn222Ser)
9g.136517805T>GCA375562990NOTCH1c.1388A>C (p.Asn463Thr)
c.*624A>C (n.*624A>C)
c.689A>C (p.Asn230Thr)
c.665A>C (p.Asn222Thr)
9g.136517806T>ACA375562996NOTCH1c.1387A>T (p.Asn463Tyr)
c.*623A>T (n.*623A>T)
c.688A>T (p.Asn230Tyr)
c.664A>T (p.Asn222Tyr)
 gnomAD v4
9g.136517806T>CCA375562992NOTCH1c.1387A>G (p.Asn463Asp)
c.*623A>G (n.*623A>G)
c.688A>G (p.Asn230Asp)
c.664A>G (p.Asn222Asp)
9g.136517806T>GCA375562994NOTCH1c.1387A>C (p.Asn463His)
c.*623A>C (n.*623A>C)
c.688A>C (p.Asn230His)
c.664A>C (p.Asn222His)
9g.136517807C>ACA375562997NOTCH1c.1386G>T (p.Gln462His)
c.*622G>T (n.*622G>T)
c.687G>T (p.Gln229His)
c.663G>T (p.Gln221His)
9g.136517807C>GCA375562998NOTCH1c.1386G>C (p.Gln462His)
c.*622G>C (n.*622G>C)
c.687G>C (p.Gln229His)
c.663G>C (p.Gln221His)
9g.136517807C>TCA467718180NOTCH1c.1386G>A (p.Gln462=)
c.*622G>A (n.*622G>A)
c.687G>A (p.Gln229=)
c.663G>A (p.Gln221=)
 ClinVar dbSNP
9g.136517808T>ACA375563000NOTCH1c.1385A>T (p.Gln462Leu)
c.*621A>T (n.*621A>T)
c.686A>T (p.Gln229Leu)
c.662A>T (p.Gln221Leu)
 dbSNP
9g.136517808T>CCA375563002NOTCH1c.1385A>G (p.Gln462Arg)
c.*621A>G (n.*621A>G)
c.686A>G (p.Gln229Arg)
c.662A>G (p.Gln221Arg)
 ClinVar
9g.136517808T>GCA375563004NOTCH1c.1385A>C (p.Gln462Pro)
c.*621A>C (n.*621A>C)
c.686A>C (p.Gln229Pro)
c.662A>C (p.Gln221Pro)
9g.136517809G>ACA375563009NOTCH1c.1384C>T (p.Gln462Ter)
c.*620C>T (n.*620C>T)
c.685C>T (p.Gln229Ter)
c.661C>T (p.Gln221Ter)
 dbSNP
9g.136517809G>CCA5341820NOTCH1c.1384C>G (p.Gln462Glu)
c.*620C>G (n.*620C>G)
c.685C>G (p.Gln229Glu)
c.661C>G (p.Gln221Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.136517809G>TCA375563007NOTCH1c.1384C>A (p.Gln462Lys)
c.*620C>A (n.*620C>A)
c.685C>A (p.Gln229Lys)
c.661C>A (p.Gln221Lys)
 dbSNP
9g.136517810G>ACA5341821NOTCH1c.1383C>T (p.Cys461=)
c.*619C>T (n.*619C>T)
c.684C>T (p.Cys228=)
c.660C>T (p.Cys220=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517810G>CCA375563010NOTCH1c.1383C>G (p.Cys461Trp)
c.*619C>G (n.*619C>G)
c.684C>G (p.Cys228Trp)
c.660C>G (p.Cys220Trp)
 dbSNP COSMIC COSMIC
9g.136517810G>TCA375563011NOTCH1c.1383C>A (p.Cys461Ter)
c.*619C>A (n.*619C>A)
c.684C>A (p.Cys228Ter)
c.660C>A (p.Cys220Ter)
 dbSNP
9g.136517811C>ACA375563012NOTCH1c.1382G>T (p.Cys461Phe)
c.*618G>T (n.*618G>T)
c.683G>T (p.Cys228Phe)
c.659G>T (p.Cys220Phe)
 dbSNP
9g.136517811C>GCA375563013NOTCH1c.1382G>C (p.Cys461Ser)
c.*618G>C (n.*618G>C)
c.683G>C (p.Cys228Ser)
c.659G>C (p.Cys220Ser)
 dbSNP
9g.136517811C>TCA375563014NOTCH1c.1382G>A (p.Cys461Tyr)
c.*618G>A (n.*618G>A)
c.683G>A (p.Cys228Tyr)
c.659G>A (p.Cys220Tyr)
 dbSNP
9g.136517812A>CCA375563015NOTCH1c.1381T>G (p.Cys461Gly)
c.*617T>G (n.*617T>G)
c.682T>G (p.Cys228Gly)
c.658T>G (p.Cys220Gly)
 dbSNP
9g.136517812A>GCA375563017NOTCH1c.1381T>C (p.Cys461Arg)
c.*617T>C (n.*617T>C)
c.682T>C (p.Cys228Arg)
c.658T>C (p.Cys220Arg)
 dbSNP
9g.136517812A>TCA375563020NOTCH1c.1381T>A (p.Cys461Ser)
c.*617T>A (n.*617T>A)
c.682T>A (p.Cys228Ser)
c.658T>A (p.Cys220Ser)
 dbSNP
9g.136517813C>ACA467718185NOTCH1c.1380G>T (p.Pro460=)
c.*616G>T (n.*616G>T)
c.681G>T (p.Pro227=)
c.657G>T (p.Pro219=)
9g.136517813C>GCA467718187NOTCH1c.1380G>C (p.Pro460=)
c.*616G>C (n.*616G>C)
c.681G>C (p.Pro227=)
c.657G>C (p.Pro219=)
9g.136517813C>TCA10605754NOTCH1c.1380G>A (p.Pro460=)
c.*616G>A (n.*616G>A)
c.681G>A (p.Pro227=)
c.657G>A (p.Pro219=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.136517814G>ACA5341822NOTCH1c.1379C>T (p.Pro460Leu)
c.*615C>T (n.*615C>T)
c.680C>T (p.Pro227Leu)
c.656C>T (p.Pro219Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.136517814G>CCA375563021NOTCH1c.1379C>G (p.Pro460Arg)
c.*615C>G (n.*615C>G)
c.680C>G (p.Pro227Arg)
c.656C>G (p.Pro219Arg)
 dbSNP
9g.136517814G>TCA375563022NOTCH1c.1379C>A (p.Pro460Gln)
c.*615C>A (n.*615C>A)
c.680C>A (p.Pro227Gln)
c.656C>A (p.Pro219Gln)
 dbSNP
9g.136517814_136517815delinsAACA645562532NOTCH1c.1378_1379delinsTT (p.Pro460Leu)
c.*614_*615delinsTT (n.*614_*615delinsTT)
c.679_680delinsTT (p.Pro227Leu)
c.655_656delinsTT (p.Pro219Leu)
 COSMIC COSMIC
9g.136517815G>ACA375563023NOTCH1c.1378C>T (p.Pro460Ser)
c.*614C>T (n.*614C>T)
c.679C>T (p.Pro227Ser)
c.655C>T (p.Pro219Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
9g.136517815G>CCA375563025NOTCH1c.1378C>G (p.Pro460Ala)
c.*614C>G (n.*614C>G)
c.679C>G (p.Pro227Ala)
c.655C>G (p.Pro219Ala)
 dbSNP
9g.136517815G>TCA375563024NOTCH1c.1378C>A (p.Pro460Thr)
c.*614C>A (n.*614C>A)
c.679C>A (p.Pro227Thr)
c.655C>A (p.Pro219Thr)
 dbSNP
9g.136517816G>ACA467718192NOTCH1c.1377C>T (p.Asn459=)
c.*613C>T (n.*613C>T)
c.678C>T (p.Asn226=)
c.654C>T (p.Asn218=)
 dbSNP
9g.136517816G>CCA375563026NOTCH1c.1377C>G (p.Asn459Lys)
c.*613C>G (n.*613C>G)
c.678C>G (p.Asn226Lys)
c.654C>G (p.Asn218Lys)
 dbSNP
9g.136517816G>TCA375563028NOTCH1c.1377C>A (p.Asn459Lys)
c.*613C>A (n.*613C>A)
c.678C>A (p.Asn226Lys)
c.654C>A (p.Asn218Lys)
9g.136517817T>ACA375563030NOTCH1c.1376A>T (p.Asn459Ile)
c.*612A>T (n.*612A>T)
c.677A>T (p.Asn226Ile)
c.653A>T (p.Asn218Ile)
 dbSNP
9g.136517817T>CCA5341823NOTCH1c.1376A>G (p.Asn459Ser)
c.*612A>G (n.*612A>G)
c.677A>G (p.Asn226Ser)
c.653A>G (p.Asn218Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517817T>GCA375563032NOTCH1c.1376A>C (p.Asn459Thr)
c.*612A>C (n.*612A>C)
c.677A>C (p.Asn226Thr)
c.653A>C (p.Asn218Thr)
 dbSNP
9g.136517818T>ACA375563033NOTCH1c.1375A>T (p.Asn459Tyr)
c.*611A>T (n.*611A>T)
c.676A>T (p.Asn226Tyr)
c.652A>T (p.Asn218Tyr)
 dbSNP
9g.136517818T>CCA375563035NOTCH1c.1375A>G (p.Asn459Asp)
c.*611A>G (n.*611A>G)
c.676A>G (p.Asn226Asp)
c.652A>G (p.Asn218Asp)
 dbSNP
9g.136517818T>GCA375563037NOTCH1c.1375A>C (p.Asn459His)
c.*611A>C (n.*611A>C)
c.676A>C (p.Asn226His)
c.652A>C (p.Asn218His)
 dbSNP
9g.136517819C>ACA467718196NOTCH1c.1374G>T (p.Ser458=)
c.*610G>T (n.*610G>T)
c.675G>T (p.Ser225=)
c.651G>T (p.Ser217=)
9g.136517819C>GCA467718197NOTCH1c.1374G>C (p.Ser458=)
c.*610G>C (n.*610G>C)
c.675G>C (p.Ser225=)
c.651G>C (p.Ser217=)
 dbSNP
9g.136517819C>TCA10587670NOTCH1c.1374G>A (p.Ser458=)
c.*610G>A (n.*610G>A)
c.675G>A (p.Ser225=)
c.651G>A (p.Ser217=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.136517820G>ACA5341824NOTCH1c.1373C>T (p.Ser458Leu)
c.*609C>T (n.*609C>T)
c.674C>T (p.Ser225Leu)
c.650C>T (p.Ser217Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.136517820G>CCA375563040NOTCH1c.1373C>G (p.Ser458Trp)
c.*609C>G (n.*609C>G)
c.674C>G (p.Ser225Trp)
c.650C>G (p.Ser217Trp)
 dbSNP
9g.136517820G>TCA375563041NOTCH1c.1373C>A (p.Ser458Ter)
c.*609C>A (n.*609C>A)
c.674C>A (p.Ser225Ter)
c.650C>A (p.Ser217Ter)
9g.136517821A>CCA375563046NOTCH1c.1372T>G (p.Ser458Ala)
c.*608T>G (n.*608T>G)
c.673T>G (p.Ser225Ala)
c.649T>G (p.Ser217Ala)
9g.136517821A>GCA375563043NOTCH1c.1372T>C (p.Ser458Pro)
c.*608T>C (n.*608T>C)
c.673T>C (p.Ser225Pro)
c.649T>C (p.Ser217Pro)
 dbSNP
9g.136517821A>TCA375563045NOTCH1c.1372T>A (p.Ser458Thr)
c.*608T>A (n.*608T>A)
c.673T>A (p.Ser225Thr)
c.649T>A (p.Ser217Thr)
 dbSNP
9g.136517822G>ACA467718200NOTCH1c.1371C>T (p.Val457=)
c.*607C>T (n.*607C>T)
c.672C>T (p.Val224=)
c.648C>T (p.Val216=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.136517822G>CCA467718202NOTCH1c.1371C>G (p.Val457=)
c.*607C>G (n.*607C>G)
c.672C>G (p.Val224=)
c.648C>G (p.Val216=)
 dbSNP
9g.136517822G>TCA467718203NOTCH1c.1371C>A (p.Val457=)
c.*607C>A (n.*607C>A)
c.672C>A (p.Val224=)
c.648C>A (p.Val216=)
9g.136517823A>CCA375563048NOTCH1c.1370T>G (p.Val457Gly)
c.*606T>G (n.*606T>G)
c.671T>G (p.Val224Gly)
c.647T>G (p.Val216Gly)
 dbSNP
9g.136517823A>GCA375563049NOTCH1c.1370T>C (p.Val457Ala)
c.*606T>C (n.*606T>C)
c.671T>C (p.Val224Ala)
c.647T>C (p.Val216Ala)
 dbSNP
9g.136517823A>TCA375563050NOTCH1c.1370T>A (p.Val457Asp)
c.*606T>A (n.*606T>A)
c.671T>A (p.Val224Asp)
c.647T>A (p.Val216Asp)
 dbSNP
9g.136517824C>ACA5341826NOTCH1c.1369G>T (p.Val457Phe)
c.*605G>T (n.*605G>T)
c.670G>T (p.Val224Phe)
c.646G>T (p.Val216Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.136517824C>GCA375563051NOTCH1c.1369G>C (p.Val457Leu)
c.*605G>C (n.*605G>C)
c.670G>C (p.Val224Leu)
c.646G>C (p.Val216Leu)
9g.136517824C>TCA5341825NOTCH1c.1369G>A (p.Val457Ile)
c.*605G>A (n.*605G>A)
c.670G>A (p.Val224Ile)
c.646G>A (p.Val216Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.136517825G>ACA5341827NOTCH1c.1368C>T (p.Cys456=)
c.*604C>T (n.*604C>T)
c.669C>T (p.Cys223=)
c.645C>T (p.Cys215=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517825G>CCA375563054NOTCH1c.1368C>G (p.Cys456Trp)
c.*604C>G (n.*604C>G)
c.669C>G (p.Cys223Trp)
c.645C>G (p.Cys215Trp)
9g.136517825G>TCA375563055NOTCH1c.1368C>A (p.Cys456Ter)
c.*604C>A (n.*604C>A)
c.669C>A (p.Cys223Ter)
c.645C>A (p.Cys215Ter)
9g.136517826C>ACA375563056NOTCH1c.1367G>T (p.Cys456Phe)
c.*603G>T (n.*603G>T)
c.668G>T (p.Cys223Phe)
c.644G>T (p.Cys215Phe)
 dbSNP
9g.136517826C>GCA375563057NOTCH1c.1367G>C (p.Cys456Ser)
c.*603G>C (n.*603G>C)
c.668G>C (p.Cys223Ser)
c.644G>C (p.Cys215Ser)
 dbSNP
9g.136517826C>TCA349951NOTCH1c.1367G>A (p.Cys456Tyr)
c.*603G>A (n.*603G>A)
c.668G>A (p.Cys223Tyr)
c.644G>A (p.Cys215Tyr)
 ClinVar dbSNP COSMIC COSMIC
9g.136517827A>CCA375563061NOTCH1c.1366T>G (p.Cys456Gly)
c.*602T>G (n.*602T>G)
c.667T>G (p.Cys223Gly)
c.643T>G (p.Cys215Gly)
 dbSNP
9g.136517827A>GCA375563063NOTCH1c.1366T>C (p.Cys456Arg)
c.*602T>C (n.*602T>C)
c.667T>C (p.Cys223Arg)
c.643T>C (p.Cys215Arg)
 dbSNP
9g.136517827A>TCA375563060NOTCH1c.1366T>A (p.Cys456Ser)
c.*602T>A (n.*602T>A)
c.667T>A (p.Cys223Ser)
c.643T>A (p.Cys215Ser)
 dbSNP
9g.136517828C>ACA375563064NOTCH1c.1365G>T (p.Glu455Asp)
c.*601G>T (n.*601G>T)
c.666G>T (p.Glu222Asp)
c.642G>T (p.Glu214Asp)
9g.136517828C>GCA375563065NOTCH1c.1365G>C (p.Glu455Asp)
c.*601G>C (n.*601G>C)
c.666G>C (p.Glu222Asp)
c.642G>C (p.Glu214Asp)
 dbSNP
9g.136517828C>TCA467718206NOTCH1c.1365G>A (p.Glu455=)
c.*601G>A (n.*601G>A)
c.666G>A (p.Glu222=)
c.642G>A (p.Glu214=)
 gnomAD v4
9g.136517829T>ACA375563066NOTCH1c.1364A>T (p.Glu455Val)
c.*600A>T (n.*600A>T)
c.665A>T (p.Glu222Val)
c.641A>T (p.Glu214Val)
 dbSNP
9g.136517829T>CCA375563068NOTCH1c.1364A>G (p.Glu455Gly)
c.*600A>G (n.*600A>G)
c.665A>G (p.Glu222Gly)
c.641A>G (p.Glu214Gly)
9g.136517829T>GCA375563067NOTCH1c.1364A>C (p.Glu455Ala)
c.*600A>C (n.*600A>C)
c.665A>C (p.Glu222Ala)
c.641A>C (p.Glu214Ala)
 ClinVar
9g.136517830C>ACA375563070NOTCH1c.1363G>T (p.Glu455Ter)
c.*599G>T (n.*599G>T)
c.664G>T (p.Glu222Ter)
c.640G>T (p.Glu214Ter)
9g.136517830C>GCA375563072NOTCH1c.1363G>C (p.Glu455Gln)
c.*599G>C (n.*599G>C)
c.664G>C (p.Glu222Gln)
c.640G>C (p.Glu214Gln)
 ClinVar dbSNP
9g.136517830C>TCA375563073NOTCH1c.1363G>A (p.Glu455Lys)
c.*599G>A (n.*599G>A)
c.664G>A (p.Glu222Lys)
c.640G>A (p.Glu214Lys)
 ClinVar dbSNP COSMIC COSMIC
9g.136517831G>ACA5341828NOTCH1c.1362C>T (p.Asn454=)
c.*598C>T (n.*598C>T)
c.663C>T (p.Asn221=)
c.639C>T (p.Asn213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517831G>CCA375563076NOTCH1c.1362C>G (p.Asn454Lys)
c.*598C>G (n.*598C>G)
c.663C>G (p.Asn221Lys)
c.639C>G (p.Asn213Lys)
9g.136517831G>TCA375563077NOTCH1c.1362C>A (p.Asn454Lys)
c.*598C>A (n.*598C>A)
c.663C>A (p.Asn221Lys)
c.639C>A (p.Asn213Lys)
9g.136517832_136517834delCA645562533NOTCH1c.1360_1362del (p.Asn454del)
c.*596_*598del (n.*596_*598del)
c.661_663del (p.Asn221del)
c.637_639del (p.Asn213del)
 COSMIC COSMIC
9g.136517832T>ACA375563081NOTCH1c.1361A>T (p.Asn454Ile)
c.*597A>T (n.*597A>T)
c.662A>T (p.Asn221Ile)
c.638A>T (p.Asn213Ile)
 dbSNP
9g.136517832T>CCA375563080NOTCH1c.1361A>G (p.Asn454Ser)
c.*597A>G (n.*597A>G)
c.662A>G (p.Asn221Ser)
c.638A>G (p.Asn213Ser)
 dbSNP gnomAD v4
9g.136517832T>GCA375563079NOTCH1c.1361A>C (p.Asn454Thr)
c.*597A>C (n.*597A>C)
c.662A>C (p.Asn221Thr)
c.638A>C (p.Asn213Thr)
 dbSNP
9g.136517833T>ACA375563083NOTCH1c.1360A>T (p.Asn454Tyr)
c.*596A>T (n.*596A>T)
c.661A>T (p.Asn221Tyr)
c.637A>T (p.Asn213Tyr)
 dbSNP
9g.136517833T>CCA375563085NOTCH1c.1360A>G (p.Asn454Asp)
c.*596A>G (n.*596A>G)
c.661A>G (p.Asn221Asp)
c.637A>G (p.Asn213Asp)
 dbSNP
9g.136517833T>GCA375563087NOTCH1c.1360A>C (p.Asn454His)
c.*596A>C (n.*596A>C)
c.661A>C (p.Asn221His)
c.637A>C (p.Asn213His)
9g.136517834G>ACA467718209NOTCH1c.1359C>T (p.Val453=)
c.*595C>T (n.*595C>T)
c.660C>T (p.Val220=)
c.636C>T (p.Val212=)
 dbSNP
9g.136517834G>CCA467718210NOTCH1c.1359C>G (p.Val453=)
c.*595C>G (n.*595C>G)
c.660C>G (p.Val220=)
c.636C>G (p.Val212=)
 dbSNP
9g.136517834G>TCA467718211NOTCH1c.1359C>A (p.Val453=)
c.*595C>A (n.*595C>A)
c.660C>A (p.Val220=)
c.636C>A (p.Val212=)
 dbSNP
9g.136517835A>CCA375563088NOTCH1c.1358T>G (p.Val453Gly)
c.*594T>G (n.*594T>G)
c.659T>G (p.Val220Gly)
c.635T>G (p.Val212Gly)
 dbSNP
9g.136517835A>GCA375563089NOTCH1c.1358T>C (p.Val453Ala)
c.*594T>C (n.*594T>C)
c.659T>C (p.Val220Ala)
c.635T>C (p.Val212Ala)
 dbSNP
9g.136517835A>TCA375563090NOTCH1c.1358T>A (p.Val453Asp)
c.*594T>A (n.*594T>A)
c.659T>A (p.Val220Asp)
c.635T>A (p.Val212Asp)
 dbSNP
9g.136517836C>ACA375563091NOTCH1c.1357G>T (p.Val453Phe)
c.*593G>T (n.*593G>T)
c.658G>T (p.Val220Phe)
c.634G>T (p.Val212Phe)
9g.136517836C>GCA375563093NOTCH1c.1357G>C (p.Val453Leu)
c.*593G>C (n.*593G>C)
c.658G>C (p.Val220Leu)
c.634G>C (p.Val212Leu)
 dbSNP
9g.136517836C>TCA5341829NOTCH1c.1357G>A (p.Val453Ile)
c.*593G>A (n.*593G>A)
c.658G>A (p.Val220Ile)
c.634G>A (p.Val212Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517837G>ACA5341830NOTCH1c.1356C>T (p.Asp452=)
c.*592C>T (n.*592C>T)
c.657C>T (p.Asp219=)
c.633C>T (p.Asp211=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136517837G>CCA375563095NOTCH1c.1356C>G (p.Asp452Glu)
c.*592C>G (n.*592C>G)
c.657C>G (p.Asp219Glu)
c.633C>G (p.Asp211Glu)
 dbSNP
9g.136517837G>TCA375563097NOTCH1c.1356C>A (p.Asp452Glu)
c.*592C>A (n.*592C>A)
c.657C>A (p.Asp219Glu)
c.633C>A (p.Asp211Glu)
9g.136517838T>ACA375563098NOTCH1c.1355A>T (p.Asp452Val)
c.*591A>T (n.*591A>T)
c.656A>T (p.Asp219Val)
c.632A>T (p.Asp211Val)
 dbSNP
9g.136517838T>CCA375563099NOTCH1c.1355A>G (p.Asp452Gly)
c.*591A>G (n.*591A>G)
c.656A>G (p.Asp219Gly)
c.632A>G (p.Asp211Gly)
 dbSNP
9g.136517838T>GCA375563100NOTCH1c.1355A>C (p.Asp452Ala)
c.*591A>C (n.*591A>C)
c.656A>C (p.Asp219Ala)
c.632A>C (p.Asp211Ala)
 dbSNP
9g.136517839C>ACA375563103NOTCH1c.1354G>T (p.Asp452Tyr)
c.*590G>T (n.*590G>T)
c.655G>T (p.Asp219Tyr)
c.631G>T (p.Asp211Tyr)
 dbSNP
9g.136517839C>GCA375563104NOTCH1c.1354G>C (p.Asp452His)
c.*590G>C (n.*590G>C)
c.655G>C (p.Asp219His)
c.631G>C (p.Asp211His)
 dbSNP
9g.136517839C>TCA201587569NOTCH1c.1354G>A (p.Asp452Asn)
c.*590G>A (n.*590G>A)
c.655G>A (p.Asp219Asn)
c.631G>A (p.Asp211Asn)
 dbSNP gnomAD v4

Number of alleles fetched