Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
9	g.136499264_136508873del	CA2573144305	NOTCH1	c.3171+1_5935-1del c.3171+1_975-1del c.3057+1_5821-1del c.3171+1_5815-1del c.768+1_3532-1del c.571+1_3335-1del c.780+1_3544-1del c.2407+1_*5171-1del c.2472+1_5236-1del c.2448+1_5212-1del	ClinVar
9	g.136504800_136504874del	CA645543377	NOTCH1	n.2633_2707del c.4826_4900del (p.Asp1609_Arg1633del) c.4712_4786del (p.Asp1571_Arg1595del) c.4706_4780del (p.Asp1569_Arg1593del) c.2423_2497del (p.Asp808_Arg832del) c.2226_2300del (n.2226_2300del) c.2435_2509del (n.2435_2509del) n.1639_1713del c.4062_4136del (n.4062_4136del) c.4127_4201del (p.Asp1376_Arg1400del) c.4103_4177del (p.Asp1368_Arg1392del)	COSMIC COSMIC
9	g.136504849_136504873del	CA645543390	NOTCH1	n.2625_2649del c.4818_4842del (p.Phe1606LeufsTer2) c.4704_4728del (p.Phe1568LeufsTer2) c.4698_4722del (p.Phe1566LeufsTer2) c.2415_2439del (p.Phe805LeufsTer2) c.2218_2242del (n.2218_2242del) c.2427_2451del (n.2427_2451del) n.1631_1655del c.4054_4078del (n.4054_4078del) c.4119_4143del (p.Phe1373LeufsTer2) c.4095_4119del (p.Phe1365LeufsTer2)	COSMIC
9	g.136504866C>A	CA375644813	NOTCH1	n.2632G>T c.4825G>T (p.Asp1609Tyr) c.4711G>T (p.Asp1571Tyr) c.4705G>T (p.Asp1569Tyr) c.2422G>T (p.Asp808Tyr) c.2225G>T (n.2225G>T) c.2434G>T (n.2434G>T) n.1638G>T c.4061G>T (n.4061G>T) c.4126G>T (p.Asp1376Tyr) c.4102G>T (p.Asp1368Tyr)	dbSNP gnomAD v4
9	g.136504866C>G	CA375644815	NOTCH1	n.2632G>C c.4825G>C (p.Asp1609His) c.4711G>C (p.Asp1571His) c.4705G>C (p.Asp1569His) c.2422G>C (p.Asp808His) c.2225G>C (n.2225G>C) c.2434G>C (n.2434G>C) n.1638G>C c.4061G>C (n.4061G>C) c.4126G>C (p.Asp1376His) c.4102G>C (p.Asp1368His)	dbSNP
9	g.136504866C>T	CA375644816	NOTCH1	n.2632G>A c.4825G>A (p.Asp1609Asn) c.4711G>A (p.Asp1571Asn) c.4705G>A (p.Asp1569Asn) c.2422G>A (p.Asp808Asn) c.2225G>A (n.2225G>A) c.2434G>A (n.2434G>A) n.1638G>A c.4061G>A (n.4061G>A) c.4126G>A (p.Asp1376Asn) c.4102G>A (p.Asp1368Asn)	dbSNP
9	g.136504867A>C	CA467832719	NOTCH1	n.2631T>G c.4824T>G (p.Arg1608=) c.4710T>G (p.Arg1570=) c.4704T>G (p.Arg1568=) c.2421T>G (p.Arg807=) c.2224T>G (n.2224T>G) c.2433T>G (n.2433T>G) n.1637T>G c.4060T>G (n.4060T>G) c.4125T>G (p.Arg1375=) c.4101T>G (p.Arg1367=)	dbSNP
9	g.136504867A>G	CA467832721	NOTCH1	n.2631T>C c.4824T>C (p.Arg1608=) c.4710T>C (p.Arg1570=) c.4704T>C (p.Arg1568=) c.2421T>C (p.Arg807=) c.2224T>C (n.2224T>C) c.2433T>C (n.2433T>C) n.1637T>C c.4060T>C (n.4060T>C) c.4125T>C (p.Arg1375=) c.4101T>C (p.Arg1367=)
9	g.136504867A>T	CA467832720	NOTCH1	n.2631T>A c.4824T>A (p.Arg1608=) c.4710T>A (p.Arg1570=) c.4704T>A (p.Arg1568=) c.2421T>A (p.Arg807=) c.2224T>A (n.2224T>A) c.2433T>A (n.2433T>A) n.1637T>A c.4060T>A (n.4060T>A) c.4125T>A (p.Arg1375=) c.4101T>A (p.Arg1367=)	dbSNP
9	g.136504868C>A	CA375644819	NOTCH1	n.2630G>T c.4823G>T (p.Arg1608Leu) c.4709G>T (p.Arg1570Leu) c.4703G>T (p.Arg1568Leu) c.2420G>T (p.Arg807Leu) c.2223G>T (n.2223G>T) c.2432G>T (n.2432G>T) n.1636G>T c.4059G>T (n.4059G>T) c.4124G>T (p.Arg1375Leu) c.4100G>T (p.Arg1367Leu)	gnomAD v4
9	g.136504868C=	CA2580903167	NOTCH1	n.2630G= c.4823G= (p.Arg1608=) c.4709G= (p.Arg1570=) c.4703G= (p.Arg1568=) c.2420G= (p.Arg807=) c.2223G= (n.2223G=) c.2432G= (n.2432G=) n.1636G= c.4059G= (n.4059G=) c.4124G= (p.Arg1375=) c.4100G= (p.Arg1367=)
9	g.136504868C>G	CA375644820	NOTCH1	n.2630G>C c.4823G>C (p.Arg1608Pro) c.4709G>C (p.Arg1570Pro) c.4703G>C (p.Arg1568Pro) c.2420G>C (p.Arg807Pro) c.2223G>C (n.2223G>C) c.2432G>C (n.2432G>C) n.1636G>C c.4059G>C (n.4059G>C) c.4124G>C (p.Arg1375Pro) c.4100G>C (p.Arg1367Pro)	dbSNP gnomAD v4
9	g.136504868C>T	CA161205	NOTCH1	n.2630G>A c.4823G>A (p.Arg1608His) c.4709G>A (p.Arg1570His) c.4703G>A (p.Arg1568His) c.2420G>A (p.Arg807His) c.2223G>A (n.2223G>A) c.2432G>A (n.2432G>A) n.1636G>A c.4059G>A (n.4059G>A) c.4124G>A (p.Arg1375His) c.4100G>A (p.Arg1367His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504869G>A	CA5340509	NOTCH1	n.2629C>T c.4822C>T (p.Arg1608Cys) c.4708C>T (p.Arg1570Cys) c.4702C>T (p.Arg1568Cys) c.2419C>T (p.Arg807Cys) c.2222C>T (n.2222C>T) c.2431C>T (n.2431C>T) n.1635C>T c.4058C>T (n.4058C>T) c.4123C>T (p.Arg1375Cys) c.4099C>T (p.Arg1367Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504869G>C	CA375644824	NOTCH1	n.2629C>G c.4822C>G (p.Arg1608Gly) c.4708C>G (p.Arg1570Gly) c.4702C>G (p.Arg1568Gly) c.2419C>G (p.Arg807Gly) c.2222C>G (n.2222C>G) c.2431C>G (n.2431C>G) n.1635C>G c.4058C>G (n.4058C>G) c.4123C>G (p.Arg1375Gly) c.4099C>G (p.Arg1367Gly)	dbSNP
9	g.136504869G>T	CA375644826	NOTCH1	n.2629C>A c.4822C>A (p.Arg1608Ser) c.4708C>A (p.Arg1570Ser) c.4702C>A (p.Arg1568Ser) c.2419C>A (p.Arg807Ser) c.2222C>A (n.2222C>A) c.2431C>A (n.2431C>A) n.1635C>A c.4058C>A (n.4058C>A) c.4123C>A (p.Arg1375Ser) c.4099C>A (p.Arg1367Ser)	dbSNP gnomAD v4 COSMIC
9	g.136504870C>A	CA375644829	NOTCH1	n.2628G>T c.4821G>T (p.Lys1607Asn) c.4707G>T (p.Lys1569Asn) c.4701G>T (p.Lys1567Asn) c.2418G>T (p.Lys806Asn) c.2221G>T (n.2221G>T) c.2430G>T (n.2430G>T) n.1634G>T c.4057G>T (n.4057G>T) c.4122G>T (p.Lys1374Asn) c.4098G>T (p.Lys1366Asn)	dbSNP gnomAD v4
9	g.136504870C>G	CA375644830	NOTCH1	n.2628G>C c.4821G>C (p.Lys1607Asn) c.4707G>C (p.Lys1569Asn) c.4701G>C (p.Lys1567Asn) c.2418G>C (p.Lys806Asn) c.2221G>C (n.2221G>C) c.2430G>C (n.2430G>C) n.1634G>C c.4057G>C (n.4057G>C) c.4122G>C (p.Lys1374Asn) c.4098G>C (p.Lys1366Asn)	dbSNP
9	g.136504870C>T	CA467832722	NOTCH1	n.2628G>A c.4821G>A (p.Lys1607=) c.4707G>A (p.Lys1569=) c.4701G>A (p.Lys1567=) c.2418G>A (p.Lys806=) c.2221G>A (n.2221G>A) c.2430G>A (n.2430G>A) n.1634G>A c.4057G>A (n.4057G>A) c.4122G>A (p.Lys1374=) c.4098G>A (p.Lys1366=)	ClinVar
9	g.136504870dup	CA645543395	NOTCH1	n.2628dup c.4821dup (p.Arg1608AlafsTer2) c.4707dup (p.Arg1570AlafsTer2) c.4701dup (p.Arg1568AlafsTer2) c.2418dup (p.Arg807AlafsTer2) c.2221dup (n.2221dup) c.2430dup (n.2430dup) n.1634dup c.4057dup (n.4057dup) c.4122dup (p.Arg1375AlafsTer2) c.4098dup (p.Arg1367AlafsTer2)	COSMIC COSMIC
9	g.136504870_136504872delinsGGGGTC	CA645543394	NOTCH1	n.2626_2628delinsGACCCC c.4819_4821delinsGACCCC (p.Lys1607delinsAspPro) c.4705_4707delinsGACCCC (p.Lys1569delinsAspPro) c.4699_4701delinsGACCCC (p.Lys1567delinsAspPro) c.2416_2418delinsGACCCC (p.Lys806delinsAspPro) c.2219_2221delinsGACCCC (n.2219_2221delinsGACCCC) c.2428_2430delinsGACCCC (n.2428_2430delinsGACCCC) n.1632_1634delinsGACCCC c.4055_4057delinsGACCCC (n.4055_4057delinsGACCCC) c.4120_4122delinsGACCCC (p.Lys1374delinsAspPro) c.4096_4098delinsGACCCC (p.Lys1366delinsAspPro)	COSMIC
9	g.136504870_136504875delinsTTTATTCCCCTTGCGACGGGG	CA645543393	NOTCH1	n.2623_2628delinsCCCCGTCGCAAGGGGAATAAA c.4816_4821delinsCCCCGTCGCAAGGGGAATAAA (p.Phe1606delinsProArgArgLysGlyAsn) c.4702_4707delinsCCCCGTCGCAAGGGGAATAAA (p.Phe1568delinsProArgArgLysGlyAsn) c.4696_4701delinsCCCCGTCGCAAGGGGAATAAA (p.Phe1566delinsProArgArgLysGlyAsn) c.2413_2418delinsCCCCGTCGCAAGGGGAATAAA (p.Phe805delinsProArgArgLysGlyAsn) c.2216_2221delinsCCCCGTCGCAAGGGGAATAAA (n.2216_2221delinsCCCCGTCGCAAGGGGAATAAA) c.2425_2430delinsCCCCGTCGCAAGGGGAATAAA (n.2425_2430delinsCCCCGTCGCAAGGGGAATAAA) n.1629_1634delinsCCCCGTCGCAAGGGGAATAAA c.4052_4057delinsCCCCGTCGCAAGGGGAATAAA (n.4052_4057delinsCCCCGTCGCAAGGGGAATAAA) c.4117_4122delinsCCCCGTCGCAAGGGGAATAAA (p.Phe1373delinsProArgArgLysGlyAsn) c.4093_4098delinsCCCCGTCGCAAGGGGAATAAA (p.Phe1365delinsProArgArgLysGlyAsn)	COSMIC
9	g.136504871T>A	CA375644834	NOTCH1	n.2627A>T c.4820A>T (p.Lys1607Met) c.4706A>T (p.Lys1569Met) c.4700A>T (p.Lys1567Met) c.2417A>T (p.Lys806Met) c.2220A>T (n.2220A>T) c.2429A>T (n.2429A>T) n.1633A>T c.4056A>T (n.4056A>T) c.4121A>T (p.Lys1374Met) c.4097A>T (p.Lys1366Met)	dbSNP gnomAD v4
9	g.136504871T>C	CA201643935	NOTCH1	n.2627A>G c.4820A>G (p.Lys1607Arg) c.4706A>G (p.Lys1569Arg) c.4700A>G (p.Lys1567Arg) c.2417A>G (p.Lys806Arg) c.2220A>G (n.2220A>G) c.2429A>G (n.2429A>G) n.1633A>G c.4056A>G (n.4056A>G) c.4121A>G (p.Lys1374Arg) c.4097A>G (p.Lys1366Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
9	g.136504871T>G	CA375644832	NOTCH1	n.2627A>C c.4820A>C (p.Lys1607Thr) c.4706A>C (p.Lys1569Thr) c.4700A>C (p.Lys1567Thr) c.2417A>C (p.Lys806Thr) c.2220A>C (n.2220A>C) c.2429A>C (n.2429A>C) n.1633A>C c.4056A>C (n.4056A>C) c.4121A>C (p.Lys1374Thr) c.4097A>C (p.Lys1366Thr)
9	g.136504872_136504873insTGCATT	CA916086487	NOTCH1	n.2627_2628insTGCAAA c.4820_4821insTGCAAA (p.Phe1606_Lys1607insAsnAla) c.4706_4707insTGCAAA (p.Phe1568_Lys1569insAsnAla) c.4700_4701insTGCAAA (p.Phe1566_Lys1567insAsnAla) c.2417_2418insTGCAAA (p.Phe805_Lys806insAsnAla) c.2220_2221insTGCAAA (n.2220_2221insTGCAAA) c.2429_2430insTGCAAA (n.2429_2430insTGCAAA) n.1633_1634insTGCAAA c.4056_4057insTGCAAA (n.4056_4057insTGCAAA) c.4121_4122insTGCAAA (p.Phe1373_Lys1374insAsnAla) c.4097_4098insTGCAAA (p.Phe1365_Lys1366insAsnAla)
9	g.136504871_136504873delinsATTTCAGGACAC	CA645543397	NOTCH1	n.2625_2627delinsGTGTCCTGAAAT c.4818_4820delinsGTGTCCTGAAAT (p.Phe1606_Lys1607delinsLeuCysProGluMet) c.4704_4706delinsGTGTCCTGAAAT (p.Phe1568_Lys1569delinsLeuCysProGluMet) c.4698_4700delinsGTGTCCTGAAAT (p.Phe1566_Lys1567delinsLeuCysProGluMet) c.2415_2417delinsGTGTCCTGAAAT (p.Phe805_Lys806delinsLeuCysProGluMet) c.2218_2220delinsGTGTCCTGAAAT (n.2218_2220delinsGTGTCCTGAAAT) c.2427_2429delinsGTGTCCTGAAAT (n.2427_2429delinsGTGTCCTGAAAT) n.1631_1633delinsGTGTCCTGAAAT c.4054_4056delinsGTGTCCTGAAAT (n.4054_4056delinsGTGTCCTGAAAT) c.4119_4121delinsGTGTCCTGAAAT (p.Phe1373_Lys1374delinsLeuCysProGluMet) c.4095_4097delinsGTGTCCTGAAAT (p.Phe1365_Lys1366delinsLeuCysProGluMet)	COSMIC
9	g.136504872T>A	CA375644836	NOTCH1	n.2626A>T c.4819A>T (p.Lys1607Ter) c.4705A>T (p.Lys1569Ter) c.4699A>T (p.Lys1567Ter) c.2416A>T (p.Lys806Ter) c.2219A>T (n.2219A>T) c.2428A>T (n.2428A>T) n.1632A>T c.4055A>T (n.4055A>T) c.4120A>T (p.Lys1374Ter) c.4096A>T (p.Lys1366Ter)	dbSNP
9	g.136504872T>C	CA375644840	NOTCH1	n.2626A>G c.4819A>G (p.Lys1607Glu) c.4705A>G (p.Lys1569Glu) c.4699A>G (p.Lys1567Glu) c.2416A>G (p.Lys806Glu) c.2219A>G (n.2219A>G) c.2428A>G (n.2428A>G) n.1632A>G c.4055A>G (n.4055A>G) c.4120A>G (p.Lys1374Glu) c.4096A>G (p.Lys1366Glu)	dbSNP gnomAD v4
9	g.136504872T>G	CA375644838	NOTCH1	n.2626A>C c.4819A>C (p.Lys1607Gln) c.4705A>C (p.Lys1569Gln) c.4699A>C (p.Lys1567Gln) c.2416A>C (p.Lys806Gln) c.2219A>C (n.2219A>C) c.2428A>C (n.2428A>C) n.1632A>C c.4055A>C (n.4055A>C) c.4120A>C (p.Lys1374Gln) c.4096A>C (p.Lys1366Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504872delinsGGAGGGGGGGGCC	CA645543398	NOTCH1	n.2626delinsGGCCCCCCCCTCC c.4819delinsGGCCCCCCCCTCC (p.Lys1607delinsGlyProProLeuGln) c.4705delinsGGCCCCCCCCTCC (p.Lys1569delinsGlyProProLeuGln) c.4699delinsGGCCCCCCCCTCC (p.Lys1567delinsGlyProProLeuGln) c.2416delinsGGCCCCCCCCTCC (p.Lys806delinsGlyProProLeuGln) c.2219delinsGGCCCCCCCCTCC (n.2219delinsGGCCCCCCCCTCC) c.2428delinsGGCCCCCCCCTCC (n.2428delinsGGCCCCCCCCTCC) n.1632delinsGGCCCCCCCCTCC c.4055delinsGGCCCCCCCCTCC (n.4055delinsGGCCCCCCCCTCC) c.4120delinsGGCCCCCCCCTCC (p.Lys1374delinsGlyProProLeuGln) c.4096delinsGGCCCCCCCCTCC (p.Lys1366delinsGlyProProLeuGln)	COSMIC
9	g.136504872_136504873delinsGTGACCCC	CA645543399	NOTCH1	n.2625_2626delinsGGGGTCAC c.4818_4819delinsGGGGTCAC (p.Phe1606_Lys1607delinsLeuGlySerGln) c.4704_4705delinsGGGGTCAC (p.Phe1568_Lys1569delinsLeuGlySerGln) c.4698_4699delinsGGGGTCAC (p.Phe1566_Lys1567delinsLeuGlySerGln) c.2415_2416delinsGGGGTCAC (p.Phe805_Lys806delinsLeuGlySerGln) c.2218_2219delinsGGGGTCAC (n.2218_2219delinsGGGGTCAC) c.2427_2428delinsGGGGTCAC (n.2427_2428delinsGGGGTCAC) n.1631_1632delinsGGGGTCAC c.4054_4055delinsGGGGTCAC (n.4054_4055delinsGGGGTCAC) c.4119_4120delinsGGGGTCAC (p.Phe1373_Lys1374delinsLeuGlySerGln) c.4095_4096delinsGGGGTCAC (p.Phe1365_Lys1366delinsLeuGlySerGln)	COSMIC
9	g.136504872_136504877dup	CA2695211746	NOTCH1	n.2621_2626dup c.4814_4819dup (p.Phe1606_Lys1607insIlePhe) c.4700_4705dup (p.Phe1568_Lys1569insIlePhe) c.4694_4699dup (p.Phe1566_Lys1567insIlePhe) c.2411_2416dup (p.Phe805_Lys806insIlePhe) c.2214_2219dup (n.2214_2219dup) c.2423_2428dup (n.2423_2428dup) n.1627_1632dup c.4050_4055dup (n.4050_4055dup) c.4115_4120dup (p.Phe1373_Lys1374insIlePhe) c.4091_4096dup (p.Phe1365_Lys1366insIlePhe)
9	g.136504873G>A	CA467832723	NOTCH1	n.2625C>T c.4818C>T (p.Phe1606=) c.4704C>T (p.Phe1568=) c.4698C>T (p.Phe1566=) c.2415C>T (p.Phe805=) c.2218C>T (n.2218C>T) c.2427C>T (n.2427C>T) n.1631C>T c.4054C>T (n.4054C>T) c.4119C>T (p.Phe1373=) c.4095C>T (p.Phe1365=)	dbSNP gnomAD v2 gnomAD v4
9	g.136504873G>C	CA375644843	NOTCH1	n.2625C>G c.4818C>G (p.Phe1606Leu) c.4704C>G (p.Phe1568Leu) c.4698C>G (p.Phe1566Leu) c.2415C>G (p.Phe805Leu) c.2218C>G (n.2218C>G) c.2427C>G (n.2427C>G) n.1631C>G c.4054C>G (n.4054C>G) c.4119C>G (p.Phe1373Leu) c.4095C>G (p.Phe1365Leu)	dbSNP gnomAD v4
9	g.136504873G>T	CA375644845	NOTCH1	n.2625C>A c.4818C>A (p.Phe1606Leu) c.4704C>A (p.Phe1568Leu) c.4698C>A (p.Phe1566Leu) c.2415C>A (p.Phe805Leu) c.2218C>A (n.2218C>A) c.2427C>A (n.2427C>A) n.1631C>A c.4054C>A (n.4054C>A) c.4119C>A (p.Phe1373Leu) c.4095C>A (p.Phe1365Leu)	gnomAD v4
9	g.136504873delinsAATT	CA645543401	NOTCH1	n.2625delinsAATT c.4818delinsAATT (p.Phe1606delinsLeuIle) c.4704delinsAATT (p.Phe1568delinsLeuIle) c.4698delinsAATT (p.Phe1566delinsLeuIle) c.2415delinsAATT (p.Phe805delinsLeuIle) c.2218delinsAATT (n.2218delinsAATT) c.2427delinsAATT (n.2427delinsAATT) n.1631delinsAATT c.4054delinsAATT (n.4054delinsAATT) c.4119delinsAATT (p.Phe1373delinsLeuIle) c.4095delinsAATT (p.Phe1365delinsLeuIle)	COSMIC
9	g.136504873delinsCAAAGCC	CA645543400	NOTCH1	n.2625delinsGGCTTTG c.4818delinsGGCTTTG (p.Phe1606delinsLeuAlaLeu) c.4704delinsGGCTTTG (p.Phe1568delinsLeuAlaLeu) c.4698delinsGGCTTTG (p.Phe1566delinsLeuAlaLeu) c.2415delinsGGCTTTG (p.Phe805delinsLeuAlaLeu) c.2218delinsGGCTTTG (n.2218delinsGGCTTTG) c.2427delinsGGCTTTG (n.2427delinsGGCTTTG) n.1631delinsGGCTTTG c.4054delinsGGCTTTG (n.4054delinsGGCTTTG) c.4119delinsGGCTTTG (p.Phe1373delinsLeuAlaLeu) c.4095delinsGGCTTTG (p.Phe1365delinsLeuAlaLeu)	dbSNP COSMIC
9	g.136504873delinsCAGGGGT	CA645543402	NOTCH1	n.2625delinsACCCCTG c.4818delinsACCCCTG (p.Phe1606delinsLeuProLeu) c.4704delinsACCCCTG (p.Phe1568delinsLeuProLeu) c.4698delinsACCCCTG (p.Phe1566delinsLeuProLeu) c.2415delinsACCCCTG (p.Phe805delinsLeuProLeu) c.2218delinsACCCCTG (n.2218delinsACCCCTG) c.2427delinsACCCCTG (n.2427delinsACCCCTG) n.1631delinsACCCCTG c.4054delinsACCCCTG (n.4054delinsACCCCTG) c.4119delinsACCCCTG (p.Phe1373delinsLeuProLeu) c.4095delinsACCCCTG (p.Phe1365delinsLeuProLeu)	dbSNP COSMIC
9	g.136504873delinsAGGGTGTGGGGGT	CA645543406	NOTCH1	n.2625delinsACCCCCACACCCT c.4818delinsACCCCCACACCCT (p.Phe1606delinsLeuProProHisPro) c.4704delinsACCCCCACACCCT (p.Phe1568delinsLeuProProHisPro) c.4698delinsACCCCCACACCCT (p.Phe1566delinsLeuProProHisPro) c.2415delinsACCCCCACACCCT (p.Phe805delinsLeuProProHisPro) c.2218delinsACCCCCACACCCT (n.2218delinsACCCCCACACCCT) c.2427delinsACCCCCACACCCT (n.2427delinsACCCCCACACCCT) n.1631delinsACCCCCACACCCT c.4054delinsACCCCCACACCCT (n.4054delinsACCCCCACACCCT) c.4119delinsACCCCCACACCCT (p.Phe1373delinsLeuProProHisPro) c.4095delinsACCCCCACACCCT (p.Phe1365delinsLeuProProHisPro)	dbSNP COSMIC
9	g.136504873delinsTTCCGATTCTTTA	CA645543407	NOTCH1	n.2625delinsTAAAGAATCGGAA c.4818delinsTAAAGAATCGGAA (p.Phe1606_Lys1607insLysGluSerGlu) c.4704delinsTAAAGAATCGGAA (p.Phe1568_Lys1569insLysGluSerGlu) c.4698delinsTAAAGAATCGGAA (p.Phe1566_Lys1567insLysGluSerGlu) c.2415delinsTAAAGAATCGGAA (p.Phe805_Lys806insLysGluSerGlu) c.2218delinsTAAAGAATCGGAA (n.2218delinsTAAAGAATCGGAA) c.2427delinsTAAAGAATCGGAA (n.2427delinsTAAAGAATCGGAA) n.1631delinsTAAAGAATCGGAA c.4054delinsTAAAGAATCGGAA (n.4054delinsTAAAGAATCGGAA) c.4119delinsTAAAGAATCGGAA (p.Phe1373_Lys1374insLysGluSerGlu) c.4095delinsTAAAGAATCGGAA (p.Phe1365_Lys1366insLysGluSerGlu)	COSMIC
9	g.136504873_136504874insGAACCG	CA645543408	NOTCH1	n.2625_2626insGGTTCC c.4818_4819insGGTTCC (p.Phe1606_Lys1607insGlySer) c.4704_4705insGGTTCC (p.Phe1568_Lys1569insGlySer) c.4698_4699insGGTTCC (p.Phe1566_Lys1567insGlySer) c.2415_2416insGGTTCC (p.Phe805_Lys806insGlySer) c.2218_2219insGGTTCC (n.2218_2219insGGTTCC) c.2427_2428insGGTTCC (n.2427_2428insGGTTCC) n.1631_1632insGGTTCC c.4054_4055insGGTTCC (n.4054_4055insGGTTCC) c.4119_4120insGGTTCC (p.Phe1373_Lys1374insGlySer) c.4095_4096insGGTTCC (p.Phe1365_Lys1366insGlySer)	dbSNP COSMIC
9	g.136504873_136504874insGAAGGGTCG	CA645543403	NOTCH1	n.2625_2626insGACCCTTCC c.4818_4819insGACCCTTCC (p.Phe1606_Lys1607insAspProSer) c.4704_4705insGACCCTTCC (p.Phe1568_Lys1569insAspProSer) c.4698_4699insGACCCTTCC (p.Phe1566_Lys1567insAspProSer) c.2415_2416insGACCCTTCC (p.Phe805_Lys806insAspProSer) c.2218_2219insGACCCTTCC (n.2218_2219insGACCCTTCC) c.2427_2428insGACCCTTCC (n.2427_2428insGACCCTTCC) n.1631_1632insGACCCTTCC c.4054_4055insGACCCTTCC (n.4054_4055insGACCCTTCC) c.4119_4120insGACCCTTCC (p.Phe1373_Lys1374insAspProSer) c.4095_4096insGACCCTTCC (p.Phe1365_Lys1366insAspProSer)	dbSNP COSMIC
9	g.136504873_136504876del	CA645543405	NOTCH1	n.2622_2625del c.4815_4818del (p.Phe1606SerfsTer9) c.4701_4704del (p.Phe1568SerfsTer9) c.4695_4698del (p.Phe1566SerfsTer9) c.2412_2415del (p.Phe805SerfsTer9) c.2215_2218del (n.2215_2218del) c.2424_2427del (n.2424_2427del) n.1628_1631del c.4051_4054del (n.4051_4054del) c.4116_4119del (p.Phe1373SerfsTer9) c.4092_4095del (p.Phe1365SerfsTer9)	COSMIC COSMIC
9	g.136504911_136504912insTGGGCGGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCG	CA645543404	NOTCH1	n.2625_2626insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC c.4818_4819insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (p.Phe1606_Lys1607insArgProArgGluLeuSerArgValLeuHisThrAsnValValPhe) c.4704_4705insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (p.Phe1568_Lys1569insArgProArgGluLeuSerArgValLeuHisThrAsnValValPhe) c.4698_4699insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (p.Phe1566_Lys1567insArgProArgGluLeuSerArgValLeuHisThrAsnValValPhe) c.2415_2416insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (p.Phe805_Lys806insArgProArgGluLeuSerArgValLeuHisThrAsnValValPhe) c.2218_2219insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (n.2218_2219insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC) c.2427_2428insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (n.2427_2428insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC) n.1631_1632insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC c.4054_4055insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (n.4054_4055insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC) c.4119_4120insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (p.Phe1373_Lys1374insArgProArgGluLeuSerArgValLeuHisThrAsnValValPhe) c.4095_4096insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC (p.Phe1365_Lys1366insArgProArgGluLeuSerArgValLeuHisThrAsnValValPhe)	COSMIC
9	g.136504873_136504874insTCC	CA645543425	NOTCH1	n.2624_2625insGGA c.4817_4818insGGA (p.Phe1606delinsLeuAsp) c.4703_4704insGGA (p.Phe1568delinsLeuAsp) c.4697_4698insGGA (p.Phe1566delinsLeuAsp) c.2414_2415insGGA (p.Phe805delinsLeuAsp) c.2217_2218insGGA (n.2217_2218insGGA) c.2426_2427insGGA (n.2426_2427insGGA) n.1630_1631insGGA c.4053_4054insGGA (n.4053_4054insGGA) c.4118_4119insGGA (p.Phe1373delinsLeuAsp) c.4094_4095insGGA (p.Phe1365delinsLeuAsp)	dbSNP COSMIC
9	g.136504873_136504874insCCTCCT	CA645543420	NOTCH1	n.2624_2625insAGGAGG c.4817_4818insAGGAGG (p.Phe1606delinsLeuGlyGly) c.4703_4704insAGGAGG (p.Phe1568delinsLeuGlyGly) c.4697_4698insAGGAGG (p.Phe1566delinsLeuGlyGly) c.2414_2415insAGGAGG (p.Phe805delinsLeuGlyGly) c.2217_2218insAGGAGG (n.2217_2218insAGGAGG) c.2426_2427insAGGAGG (n.2426_2427insAGGAGG) n.1630_1631insAGGAGG c.4053_4054insAGGAGG (n.4053_4054insAGGAGG) c.4118_4119insAGGAGG (p.Phe1373delinsLeuGlyGly) c.4094_4095insAGGAGG (p.Phe1365delinsLeuGlyGly)	dbSNP COSMIC
9	g.136504873_136504874insCTTCTC	CA645543416	NOTCH1	n.2624_2625insGAGAAG c.4817_4818insGAGAAG (p.Phe1606delinsLeuArgSer) c.4703_4704insGAGAAG (p.Phe1568delinsLeuArgSer) c.4697_4698insGAGAAG (p.Phe1566delinsLeuArgSer) c.2414_2415insGAGAAG (p.Phe805delinsLeuArgSer) c.2217_2218insGAGAAG (n.2217_2218insGAGAAG) c.2426_2427insGAGAAG (n.2426_2427insGAGAAG) n.1630_1631insGAGAAG c.4053_4054insGAGAAG (n.4053_4054insGAGAAG) c.4118_4119insGAGAAG (p.Phe1373delinsLeuArgSer) c.4094_4095insGAGAAG (p.Phe1365delinsLeuArgSer)	COSMIC COSMIC
9	g.136504873_136504874insGCGACA	CA645543423	NOTCH1	n.2624_2625insTGTCGC c.4817_4818insTGTCGC (p.Phe1606_Lys1607insValAla) c.4703_4704insTGTCGC (p.Phe1568_Lys1569insValAla) c.4697_4698insTGTCGC (p.Phe1566_Lys1567insValAla) c.2414_2415insTGTCGC (p.Phe805_Lys806insValAla) c.2217_2218insTGTCGC (n.2217_2218insTGTCGC) c.2426_2427insTGTCGC (n.2426_2427insTGTCGC) n.1630_1631insTGTCGC c.4053_4054insTGTCGC (n.4053_4054insTGTCGC) c.4118_4119insTGTCGC (p.Phe1373_Lys1374insValAla) c.4094_4095insTGTCGC (p.Phe1365_Lys1366insValAla)	dbSNP COSMIC
9	g.136504873_136504874insGCTGGC	CA645543409	NOTCH1	n.2624_2625insGCCAGC c.4817_4818insGCCAGC (p.Phe1606delinsLeuProAla) c.4703_4704insGCCAGC (p.Phe1568delinsLeuProAla) c.4697_4698insGCCAGC (p.Phe1566delinsLeuProAla) c.2414_2415insGCCAGC (p.Phe805delinsLeuProAla) c.2217_2218insGCCAGC (n.2217_2218insGCCAGC) c.2426_2427insGCCAGC (n.2426_2427insGCCAGC) n.1630_1631insGCCAGC c.4053_4054insGCCAGC (n.4053_4054insGCCAGC) c.4118_4119insGCCAGC (p.Phe1373delinsLeuProAla) c.4094_4095insGCCAGC (p.Phe1365delinsLeuProAla)	COSMIC COSMIC
9	g.136504873_136504874insGGGTCC	CA645543421	NOTCH1	n.2624_2625insGGACCC c.4817_4818insGGACCC (p.Phe1606delinsLeuAspPro) c.4703_4704insGGACCC (p.Phe1568delinsLeuAspPro) c.4697_4698insGGACCC (p.Phe1566delinsLeuAspPro) c.2414_2415insGGACCC (p.Phe805delinsLeuAspPro) c.2217_2218insGGACCC (n.2217_2218insGGACCC) c.2426_2427insGGACCC (n.2426_2427insGGACCC) n.1630_1631insGGACCC c.4053_4054insGGACCC (n.4053_4054insGGACCC) c.4118_4119insGGACCC (p.Phe1373delinsLeuAspPro) c.4094_4095insGGACCC (p.Phe1365delinsLeuAspPro)	dbSNP COSMIC
9	g.136504873_136504874insGTACCC	CA645543422	NOTCH1	n.2624_2625insGGGTAC c.4817_4818insGGGTAC (p.Phe1606delinsLeuGlyThr) c.4703_4704insGGGTAC (p.Phe1568delinsLeuGlyThr) c.4697_4698insGGGTAC (p.Phe1566delinsLeuGlyThr) c.2414_2415insGGGTAC (p.Phe805delinsLeuGlyThr) c.2217_2218insGGGTAC (n.2217_2218insGGGTAC) c.2426_2427insGGGTAC (n.2426_2427insGGGTAC) n.1630_1631insGGGTAC c.4053_4054insGGGTAC (n.4053_4054insGGGTAC) c.4118_4119insGGGTAC (p.Phe1373delinsLeuGlyThr) c.4094_4095insGGGTAC (p.Phe1365delinsLeuGlyThr)	COSMIC COSMIC
9	g.136504873_136504874insGTCCCC	CA645543410	NOTCH1	n.2624_2625insGGGGAC c.4817_4818insGGGGAC (p.Phe1606delinsLeuGlyThr) c.4703_4704insGGGGAC (p.Phe1568delinsLeuGlyThr) c.4697_4698insGGGGAC (p.Phe1566delinsLeuGlyThr) c.2414_2415insGGGGAC (p.Phe805delinsLeuGlyThr) c.2217_2218insGGGGAC (n.2217_2218insGGGGAC) c.2426_2427insGGGGAC (n.2426_2427insGGGGAC) n.1630_1631insGGGGAC c.4053_4054insGGGGAC (n.4053_4054insGGGGAC) c.4118_4119insGGGGAC (p.Phe1373delinsLeuGlyThr) c.4094_4095insGGGGAC (p.Phe1365delinsLeuGlyThr)	dbSNP COSMIC
9	g.136504873_136504874insGCTATAACC	CA645543419	NOTCH1	n.2624_2625insGGTTATAGC c.4817_4818insGGTTATAGC (p.Phe1606delinsLeuValIleAla) c.4703_4704insGGTTATAGC (p.Phe1568delinsLeuValIleAla) c.4697_4698insGGTTATAGC (p.Phe1566delinsLeuValIleAla) c.2414_2415insGGTTATAGC (p.Phe805delinsLeuValIleAla) c.2217_2218insGGTTATAGC (n.2217_2218insGGTTATAGC) c.2426_2427insGGTTATAGC (n.2426_2427insGGTTATAGC) n.1630_1631insGGTTATAGC c.4053_4054insGGTTATAGC (n.4053_4054insGGTTATAGC) c.4118_4119insGGTTATAGC (p.Phe1373delinsLeuValIleAla) c.4094_4095insGGTTATAGC (p.Phe1365delinsLeuValIleAla)	dbSNP COSMIC
9	g.136504873_136504874insGATAGGGGGTTC	CA645543424	NOTCH1	n.2624_2625insGAACCCCCTATC c.4817_4818insGAACCCCCTATC (p.Phe1606delinsLeuAsnProLeuSer) c.4703_4704insGAACCCCCTATC (p.Phe1568delinsLeuAsnProLeuSer) c.4697_4698insGAACCCCCTATC (p.Phe1566delinsLeuAsnProLeuSer) c.2414_2415insGAACCCCCTATC (p.Phe805delinsLeuAsnProLeuSer) c.2217_2218insGAACCCCCTATC (n.2217_2218insGAACCCCCTATC) c.2426_2427insGAACCCCCTATC (n.2426_2427insGAACCCCCTATC) n.1630_1631insGAACCCCCTATC c.4053_4054insGAACCCCCTATC (n.4053_4054insGAACCCCCTATC) c.4118_4119insGAACCCCCTATC (p.Phe1373delinsLeuAsnProLeuSer) c.4094_4095insGAACCCCCTATC (p.Phe1365delinsLeuAsnProLeuSer)	dbSNP COSMIC
9	g.136504873_136504874insGGGGGCATTGAT	CA645543418	NOTCH1	n.2624_2625insATCAATGCCCCC c.4817_4818insATCAATGCCCCC (p.Phe1606delinsLeuSerMetProPro) c.4703_4704insATCAATGCCCCC (p.Phe1568delinsLeuSerMetProPro) c.4697_4698insATCAATGCCCCC (p.Phe1566delinsLeuSerMetProPro) c.2414_2415insATCAATGCCCCC (p.Phe805delinsLeuSerMetProPro) c.2217_2218insATCAATGCCCCC (n.2217_2218insATCAATGCCCCC) c.2426_2427insATCAATGCCCCC (n.2426_2427insATCAATGCCCCC) n.1630_1631insATCAATGCCCCC c.4053_4054insATCAATGCCCCC (n.4053_4054insATCAATGCCCCC) c.4118_4119insATCAATGCCCCC (p.Phe1373delinsLeuSerMetProPro) c.4094_4095insATCAATGCCCCC (p.Phe1365delinsLeuSerMetProPro)	dbSNP COSMIC
9	g.136504873_136504874insTCTTCGTTTCTCGGT	CA645543411	NOTCH1	n.2624_2625insACCGAGAAACGAAGA c.4817_4818insACCGAGAAACGAAGA (p.Phe1606delinsLeuProArgAsnGluAsp) c.4703_4704insACCGAGAAACGAAGA (p.Phe1568delinsLeuProArgAsnGluAsp) c.4697_4698insACCGAGAAACGAAGA (p.Phe1566delinsLeuProArgAsnGluAsp) c.2414_2415insACCGAGAAACGAAGA (p.Phe805delinsLeuProArgAsnGluAsp) c.2217_2218insACCGAGAAACGAAGA (n.2217_2218insACCGAGAAACGAAGA) c.2426_2427insACCGAGAAACGAAGA (n.2426_2427insACCGAGAAACGAAGA) n.1630_1631insACCGAGAAACGAAGA c.4053_4054insACCGAGAAACGAAGA (n.4053_4054insACCGAGAAACGAAGA) c.4118_4119insACCGAGAAACGAAGA (p.Phe1373delinsLeuProArgAsnGluAsp) c.4094_4095insACCGAGAAACGAAGA (p.Phe1365delinsLeuProArgAsnGluAsp)	COSMIC
9	g.136504874A>C	CA375644847	NOTCH1	n.2624T>G c.4817T>G (p.Phe1606Cys) c.4703T>G (p.Phe1568Cys) c.4697T>G (p.Phe1566Cys) c.2414T>G (p.Phe805Cys) c.2217T>G (n.2217T>G) c.2426T>G (n.2426T>G) n.1630T>G c.4053T>G (n.4053T>G) c.4118T>G (p.Phe1373Cys) c.4094T>G (p.Phe1365Cys)	dbSNP
9	g.136504874A>G	CA375644849	NOTCH1	n.2624T>C c.4817T>C (p.Phe1606Ser) c.4703T>C (p.Phe1568Ser) c.4697T>C (p.Phe1566Ser) c.2414T>C (p.Phe805Ser) c.2217T>C (n.2217T>C) c.2426T>C (n.2426T>C) n.1630T>C c.4053T>C (n.4053T>C) c.4118T>C (p.Phe1373Ser) c.4094T>C (p.Phe1365Ser)	dbSNP
9	g.136504874A>T	CA375644854	NOTCH1	n.2624T>A c.4817T>A (p.Phe1606Tyr) c.4703T>A (p.Phe1568Tyr) c.4697T>A (p.Phe1566Tyr) c.2414T>A (p.Phe805Tyr) c.2217T>A (n.2217T>A) c.2426T>A (n.2426T>A) n.1630T>A c.4053T>A (n.4053T>A) c.4118T>A (p.Phe1373Tyr) c.4094T>A (p.Phe1365Tyr)	dbSNP
9	g.136504874_136504875insGAAACCTCA	CA645543412	NOTCH1	n.2624_2625insGAGGTTTCT c.4817_4818insGAGGTTTCT (p.Phe1606delinsLeuArgPheLeu) c.4703_4704insGAGGTTTCT (p.Phe1568delinsLeuArgPheLeu) c.4697_4698insGAGGTTTCT (p.Phe1566delinsLeuArgPheLeu) c.2414_2415insGAGGTTTCT (p.Phe805delinsLeuArgPheLeu) c.2217_2218insGAGGTTTCT (n.2217_2218insGAGGTTTCT) c.2426_2427insGAGGTTTCT (n.2426_2427insGAGGTTTCT) n.1630_1631insGAGGTTTCT c.4053_4054insGAGGTTTCT (n.4053_4054insGAGGTTTCT) c.4118_4119insGAGGTTTCT (p.Phe1373delinsLeuArgPheLeu) c.4094_4095insGAGGTTTCT (p.Phe1365delinsLeuArgPheLeu)	dbSNP COSMIC
9	g.136504874_136504875insGAGACCCGAATA	CA645543413	NOTCH1	n.2624_2625insATTCGGGTCTCT c.4817_4818insATTCGGGTCTCT (p.Phe1606delinsLeuPheGlySerLeu) c.4703_4704insATTCGGGTCTCT (p.Phe1568delinsLeuPheGlySerLeu) c.4697_4698insATTCGGGTCTCT (p.Phe1566delinsLeuPheGlySerLeu) c.2414_2415insATTCGGGTCTCT (p.Phe805delinsLeuPheGlySerLeu) c.2217_2218insATTCGGGTCTCT (n.2217_2218insATTCGGGTCTCT) c.2426_2427insATTCGGGTCTCT (n.2426_2427insATTCGGGTCTCT) n.1630_1631insATTCGGGTCTCT c.4053_4054insATTCGGGTCTCT (n.4053_4054insATTCGGGTCTCT) c.4118_4119insATTCGGGTCTCT (p.Phe1373delinsLeuPheGlySerLeu) c.4094_4095insATTCGGGTCTCT (p.Phe1365delinsLeuPheGlySerLeu)	dbSNP COSMIC
9	g.136504874_136504876delinsTCCCCCCCGGCT	CA645543415	NOTCH1	n.2622_2624delinsAGCCGGGGGGGA c.4815_4817delinsAGCCGGGGGGGA (p.Phe1606delinsAlaGlyGlyAsp) c.4701_4703delinsAGCCGGGGGGGA (p.Phe1568delinsAlaGlyGlyAsp) c.4695_4697delinsAGCCGGGGGGGA (p.Phe1566delinsAlaGlyGlyAsp) c.2412_2414delinsAGCCGGGGGGGA (p.Phe805delinsAlaGlyGlyAsp) c.2215_2217delinsAGCCGGGGGGGA (n.2215_2217delinsAGCCGGGGGGGA) c.2424_2426delinsAGCCGGGGGGGA (n.2424_2426delinsAGCCGGGGGGGA) n.1628_1630delinsAGCCGGGGGGGA c.4051_4053delinsAGCCGGGGGGGA (n.4051_4053delinsAGCCGGGGGGGA) c.4116_4118delinsAGCCGGGGGGGA (p.Phe1373delinsAlaGlyGlyAsp) c.4092_4094delinsAGCCGGGGGGGA (p.Phe1365delinsAlaGlyGlyAsp)	COSMIC
9	g.136504874_136504878delinsGGTTTGGGGTATAG	CA645543417	NOTCH1	n.2620_2624delinsCTATACCCCAAACC c.4813_4817delinsCTATACCCCAAACC (p.Val1605_Phe1606delinsLeuTyrProLysPro) c.4699_4703delinsCTATACCCCAAACC (p.Val1567_Phe1568delinsLeuTyrProLysPro) c.4693_4697delinsCTATACCCCAAACC (p.Val1565_Phe1566delinsLeuTyrProLysPro) c.2410_2414delinsCTATACCCCAAACC (p.Val804_Phe805delinsLeuTyrProLysPro) c.2213_2217delinsCTATACCCCAAACC (n.2213_2217delinsCTATACCCCAAACC) c.2422_2426delinsCTATACCCCAAACC (n.2422_2426delinsCTATACCCCAAACC) n.1626_1630delinsCTATACCCCAAACC c.4049_4053delinsCTATACCCCAAACC (n.4049_4053delinsCTATACCCCAAACC) c.4114_4118delinsCTATACCCCAAACC (p.Val1372_Phe1373delinsLeuTyrProLysPro) c.4090_4094delinsCTATACCCCAAACC (p.Val1364_Phe1365delinsLeuTyrProLysPro)	COSMIC
9	g.136504875A>C	CA375644856	NOTCH1	n.2623T>G c.4816T>G (p.Phe1606Val) c.4702T>G (p.Phe1568Val) c.4696T>G (p.Phe1566Val) c.2413T>G (p.Phe805Val) c.2216T>G (n.2216T>G) c.2425T>G (n.2425T>G) n.1629T>G c.4052T>G (n.4052T>G) c.4117T>G (p.Phe1373Val) c.4093T>G (p.Phe1365Val)	dbSNP gnomAD v2 gnomAD v4
9	g.136504875A>G	CA375644858	NOTCH1	n.2623T>C c.4816T>C (p.Phe1606Leu) c.4702T>C (p.Phe1568Leu) c.4696T>C (p.Phe1566Leu) c.2413T>C (p.Phe805Leu) c.2216T>C (n.2216T>C) c.2425T>C (n.2425T>C) n.1629T>C c.4052T>C (n.4052T>C) c.4117T>C (p.Phe1373Leu) c.4093T>C (p.Phe1365Leu)	dbSNP
9	g.136504875A>T	CA375644860	NOTCH1	n.2623T>A c.4816T>A (p.Phe1606Ile) c.4702T>A (p.Phe1568Ile) c.4696T>A (p.Phe1566Ile) c.2413T>A (p.Phe805Ile) c.2216T>A (n.2216T>A) c.2425T>A (n.2425T>A) n.1629T>A c.4052T>A (n.4052T>A) c.4117T>A (p.Phe1373Ile) c.4093T>A (p.Phe1365Ile)	dbSNP gnomAD v4
9	g.136504876G>A	CA467832724	NOTCH1	n.2622C>T c.4815C>T (p.Val1605=) c.4701C>T (p.Val1567=) c.4695C>T (p.Val1565=) c.2412C>T (p.Val804=) c.2215C>T (n.2215C>T) c.2424C>T (n.2424C>T) n.1628C>T c.4051C>T (n.4051C>T) c.4116C>T (p.Val1372=) c.4092C>T (p.Val1364=)	dbSNP gnomAD v2 gnomAD v4
9	g.136504876G>C	CA467832725	NOTCH1	n.2622C>G c.4815C>G (p.Val1605=) c.4701C>G (p.Val1567=) c.4695C>G (p.Val1565=) c.2412C>G (p.Val804=) c.2215C>G (n.2215C>G) c.2424C>G (n.2424C>G) n.1628C>G c.4051C>G (n.4051C>G) c.4116C>G (p.Val1372=) c.4092C>G (p.Val1364=)	dbSNP
9	g.136504876G>T	CA467832726	NOTCH1	n.2622C>A c.4815C>A (p.Val1605=) c.4701C>A (p.Val1567=) c.4695C>A (p.Val1565=) c.2412C>A (p.Val804=) c.2215C>A (n.2215C>A) c.2424C>A (n.2424C>A) n.1628C>A c.4051C>A (n.4051C>A) c.4116C>A (p.Val1372=) c.4092C>A (p.Val1364=)	gnomAD v4
9	g.136504876_136504877insGGGGGG	CA2580081228	NOTCH1	n.2622_2623insCCCCCC c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro) c.4701_4702insCCCCCC (p.Val1567_Phe1568insProPro) c.4695_4696insCCCCCC (p.Val1565_Phe1566insProPro) c.2412_2413insCCCCCC (p.Val804_Phe805insProPro) c.2215_2216insCCCCCC (n.2215_2216insCCCCCC) c.2424_2425insCCCCCC (n.2424_2425insCCCCCC) n.1628_1629insCCCCCC c.4051_4052insCCCCCC (n.4051_4052insCCCCCC) c.4116_4117insCCCCCC (p.Val1372_Phe1373insProPro) c.4092_4093insCCCCCC (p.Val1364_Phe1365insProPro)	ClinVar
9	g.136504877A>C	CA375644862	NOTCH1	n.2621T>G c.4814T>G (p.Val1605Gly) c.4700T>G (p.Val1567Gly) c.4694T>G (p.Val1565Gly) c.2411T>G (p.Val804Gly) c.2214T>G (n.2214T>G) c.2423T>G (n.2423T>G) n.1627T>G c.4050T>G (n.4050T>G) c.4115T>G (p.Val1372Gly) c.4091T>G (p.Val1364Gly)
9	g.136504877A>G	CA5340510	NOTCH1	n.2621T>C c.4814T>C (p.Val1605Ala) c.4700T>C (p.Val1567Ala) c.4694T>C (p.Val1565Ala) c.2411T>C (p.Val804Ala) c.2214T>C (n.2214T>C) c.2423T>C (n.2423T>C) n.1627T>C c.4050T>C (n.4050T>C) c.4115T>C (p.Val1372Ala) c.4091T>C (p.Val1364Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9	g.136504877A>T	CA375644865	NOTCH1	n.2621T>A c.4814T>A (p.Val1605Asp) c.4700T>A (p.Val1567Asp) c.4694T>A (p.Val1565Asp) c.2411T>A (p.Val804Asp) c.2214T>A (n.2214T>A) c.2423T>A (n.2423T>A) n.1627T>A c.4050T>A (n.4050T>A) c.4115T>A (p.Val1372Asp) c.4091T>A (p.Val1364Asp)
9	g.136504879_136504881del	CA645543426	NOTCH1	n.2619_2621del c.4812_4814del (p.Val1605del) c.4698_4700del (p.Val1567del) c.4692_4694del (p.Val1565del) c.2409_2411del (p.Val804del) c.2212_2214del (n.2212_2214del) c.2421_2423del (n.2421_2423del) n.1625_1627del c.4048_4050del (n.4048_4050del) c.4113_4115del (p.Val1372del) c.4089_4091del (p.Val1364del)	COSMIC COSMIC COSMIC COSMIC
9	g.136504878C>A	CA375644867	NOTCH1	n.2620G>T c.4813G>T (p.Val1605Phe) c.4699G>T (p.Val1567Phe) c.4693G>T (p.Val1565Phe) c.2410G>T (p.Val804Phe) c.2213G>T (n.2213G>T) c.2422G>T (n.2422G>T) n.1626G>T c.4049G>T (n.4049G>T) c.4114G>T (p.Val1372Phe) c.4090G>T (p.Val1364Phe)	dbSNP gnomAD v4
9	g.136504878C>G	CA375644868	NOTCH1	n.2620G>C c.4813G>C (p.Val1605Leu) c.4699G>C (p.Val1567Leu) c.4693G>C (p.Val1565Leu) c.2410G>C (p.Val804Leu) c.2213G>C (n.2213G>C) c.2422G>C (n.2422G>C) n.1626G>C c.4049G>C (n.4049G>C) c.4114G>C (p.Val1372Leu) c.4090G>C (p.Val1364Leu)	dbSNP
9	g.136504878C>T	CA375644869	NOTCH1	n.2620G>A c.4813G>A (p.Val1605Ile) c.4699G>A (p.Val1567Ile) c.4693G>A (p.Val1565Ile) c.2410G>A (p.Val804Ile) c.2213G>A (n.2213G>A) c.2422G>A (n.2422G>A) n.1626G>A c.4049G>A (n.4049G>A) c.4114G>A (p.Val1372Ile) c.4090G>A (p.Val1364Ile)	dbSNP gnomAD v4
9	g.136504879C>A	CA467832727	NOTCH1	n.2619G>T c.4812G>T (p.Val1604=) c.4698G>T (p.Val1566=) c.4692G>T (p.Val1564=) c.2409G>T (p.Val803=) c.2212G>T (n.2212G>T) c.2421G>T (n.2421G>T) n.1625G>T c.4048G>T (n.4048G>T) c.4113G>T (p.Val1371=) c.4089G>T (p.Val1363=)	gnomAD v4
9	g.136504879C>G	CA467832728	NOTCH1	n.2619G>C c.4812G>C (p.Val1604=) c.4698G>C (p.Val1566=) c.4692G>C (p.Val1564=) c.2409G>C (p.Val803=) c.2212G>C (n.2212G>C) c.2421G>C (n.2421G>C) n.1625G>C c.4048G>C (n.4048G>C) c.4113G>C (p.Val1371=) c.4089G>C (p.Val1363=)	ClinVar
9	g.136504879C>T	CA467832729	NOTCH1	n.2619G>A c.4812G>A (p.Val1604=) c.4698G>A (p.Val1566=) c.4692G>A (p.Val1564=) c.2409G>A (p.Val803=) c.2212G>A (n.2212G>A) c.2421G>A (n.2421G>A) n.1625G>A c.4048G>A (n.4048G>A) c.4113G>A (p.Val1371=) c.4089G>A (p.Val1363=)	dbSNP
9	g.136504883_136504897del	CA2692634251	NOTCH1	n.2605_2619del c.4798_4812del (p.Leu1600_Val1604del) c.4684_4698del (p.Leu1562_Val1566del) c.4678_4692del (p.Leu1560_Val1564del) c.2395_2409del (p.Leu799_Val803del) c.2198_2212del (n.2198_2212del) c.2407_2421del (n.2407_2421del) n.1611_1625del c.4034_4048del (n.4034_4048del) c.4099_4113del (p.Leu1367_Val1371del) c.4075_4089del (p.Leu1359_Val1363del)	gnomAD v4
9	g.136504880A>C	CA375644872	NOTCH1	n.2618T>G c.4811T>G (p.Val1604Gly) c.4697T>G (p.Val1566Gly) c.4691T>G (p.Val1564Gly) c.2408T>G (p.Val803Gly) c.2211T>G (n.2211T>G) c.2420T>G (n.2420T>G) n.1624T>G c.4047T>G (n.4047T>G) c.4112T>G (p.Val1371Gly) c.4088T>G (p.Val1363Gly)	dbSNP COSMIC
9	g.136504880A>G	CA375644875	NOTCH1	n.2618T>C c.4811T>C (p.Val1604Ala) c.4697T>C (p.Val1566Ala) c.4691T>C (p.Val1564Ala) c.2408T>C (p.Val803Ala) c.2211T>C (n.2211T>C) c.2420T>C (n.2420T>C) n.1624T>C c.4047T>C (n.4047T>C) c.4112T>C (p.Val1371Ala) c.4088T>C (p.Val1363Ala)	dbSNP
9	g.136504880A>T	CA375644873	NOTCH1	n.2618T>A c.4811T>A (p.Val1604Glu) c.4697T>A (p.Val1566Glu) c.4691T>A (p.Val1564Glu) c.2408T>A (p.Val803Glu) c.2211T>A (n.2211T>A) c.2420T>A (n.2420T>A) n.1624T>A c.4047T>A (n.4047T>A) c.4112T>A (p.Val1371Glu) c.4088T>A (p.Val1363Glu)	dbSNP COSMIC COSMIC
9	g.136504881C>A	CA375644877	NOTCH1	n.2617G>T c.4810G>T (p.Val1604Leu) c.4696G>T (p.Val1566Leu) c.4690G>T (p.Val1564Leu) c.2407G>T (p.Val803Leu) c.2210G>T (n.2210G>T) c.2419G>T (n.2419G>T) n.1623G>T c.4046G>T (n.4046G>T) c.4111G>T (p.Val1371Leu) c.4087G>T (p.Val1363Leu)	dbSNP gnomAD v4
9	g.136504881C>G	CA375644879	NOTCH1	n.2617G>C c.4810G>C (p.Val1604Leu) c.4696G>C (p.Val1566Leu) c.4690G>C (p.Val1564Leu) c.2407G>C (p.Val803Leu) c.2210G>C (n.2210G>C) c.2419G>C (n.2419G>C) n.1623G>C c.4046G>C (n.4046G>C) c.4111G>C (p.Val1371Leu) c.4087G>C (p.Val1363Leu)	dbSNP gnomAD v4
9	g.136504881C>T	CA5340511	NOTCH1	n.2617G>A c.4810G>A (p.Val1604Met) c.4696G>A (p.Val1566Met) c.4690G>A (p.Val1564Met) c.2407G>A (p.Val803Met) c.2210G>A (n.2210G>A) c.2419G>A (n.2419G>A) n.1623G>A c.4046G>A (n.4046G>A) c.4111G>A (p.Val1371Met) c.4087G>A (p.Val1363Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504882G>A	CA5340512	NOTCH1	n.2616C>T c.4809C>T (p.Asn1603=) c.4695C>T (p.Asn1565=) c.4689C>T (p.Asn1563=) c.2406C>T (p.Asn802=) c.2209C>T (n.2209C>T) c.2418C>T (n.2418C>T) n.1622C>T c.4045C>T (n.4045C>T) c.4110C>T (p.Asn1370=) c.4086C>T (p.Asn1362=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504882G>C	CA375644882	NOTCH1	n.2616C>G c.4809C>G (p.Asn1603Lys) c.4695C>G (p.Asn1565Lys) c.4689C>G (p.Asn1563Lys) c.2406C>G (p.Asn802Lys) c.2209C>G (n.2209C>G) c.2418C>G (n.2418C>G) n.1622C>G c.4045C>G (n.4045C>G) c.4110C>G (p.Asn1370Lys) c.4086C>G (p.Asn1362Lys)
9	g.136504882G>T	CA375644884	NOTCH1	n.2616C>A c.4809C>A (p.Asn1603Lys) c.4695C>A (p.Asn1565Lys) c.4689C>A (p.Asn1563Lys) c.2406C>A (p.Asn802Lys) c.2209C>A (n.2209C>A) c.2418C>A (n.2418C>A) n.1622C>A c.4045C>A (n.4045C>A) c.4110C>A (p.Asn1370Lys) c.4086C>A (p.Asn1362Lys)	gnomAD v4
9	g.136504883_136504885dup	CA645543427	NOTCH1	n.2614_2616dup c.4807_4809dup (p.Asn1603_Val1604insAsn) c.4693_4695dup (p.Asn1565_Val1566insAsn) c.4687_4689dup (p.Asn1563_Val1564insAsn) c.2404_2406dup (p.Asn802_Val803insAsn) c.2207_2209dup (n.2207_2209dup) c.2416_2418dup (n.2416_2418dup) n.1620_1622dup c.4043_4045dup (n.4043_4045dup) c.4108_4110dup (p.Asn1370_Val1371insAsn) c.4084_4086dup (p.Asn1362_Val1363insAsn)	COSMIC
9	g.136504883T>A	CA375644886	NOTCH1	n.2615A>T c.4808A>T (p.Asn1603Ile) c.4694A>T (p.Asn1565Ile) c.4688A>T (p.Asn1563Ile) c.2405A>T (p.Asn802Ile) c.2208A>T (n.2208A>T) c.2417A>T (n.2417A>T) n.1621A>T c.4044A>T (n.4044A>T) c.4109A>T (p.Asn1370Ile) c.4085A>T (p.Asn1362Ile)	dbSNP gnomAD v4
9	g.136504883T>C	CA375644888	NOTCH1	n.2615A>G c.4808A>G (p.Asn1603Ser) c.4694A>G (p.Asn1565Ser) c.4688A>G (p.Asn1563Ser) c.2405A>G (p.Asn802Ser) c.2208A>G (n.2208A>G) c.2417A>G (n.2417A>G) n.1621A>G c.4044A>G (n.4044A>G) c.4109A>G (p.Asn1370Ser) c.4085A>G (p.Asn1362Ser)	dbSNP gnomAD v4
9	g.136504883T>G	CA375644891	NOTCH1	n.2615A>C c.4808A>C (p.Asn1603Thr) c.4694A>C (p.Asn1565Thr) c.4688A>C (p.Asn1563Thr) c.2405A>C (p.Asn802Thr) c.2208A>C (n.2208A>C) c.2417A>C (n.2417A>C) n.1621A>C c.4044A>C (n.4044A>C) c.4109A>C (p.Asn1370Thr) c.4085A>C (p.Asn1362Thr)	dbSNP
9	g.136504884T>A	CA375644896	NOTCH1	n.2614A>T c.4807A>T (p.Asn1603Tyr) c.4693A>T (p.Asn1565Tyr) c.4687A>T (p.Asn1563Tyr) c.2404A>T (p.Asn802Tyr) c.2207A>T (n.2207A>T) c.2416A>T (n.2416A>T) n.1620A>T c.4043A>T (n.4043A>T) c.4108A>T (p.Asn1370Tyr) c.4084A>T (p.Asn1362Tyr)
9	g.136504884T>C	CA375644897	NOTCH1	n.2614A>G c.4807A>G (p.Asn1603Asp) c.4693A>G (p.Asn1565Asp) c.4687A>G (p.Asn1563Asp) c.2404A>G (p.Asn802Asp) c.2207A>G (n.2207A>G) c.2416A>G (n.2416A>G) n.1620A>G c.4043A>G (n.4043A>G) c.4108A>G (p.Asn1370Asp) c.4084A>G (p.Asn1362Asp)
9	g.136504884T>G	CA375644893	NOTCH1	n.2614A>C c.4807A>C (p.Asn1603His) c.4693A>C (p.Asn1565His) c.4687A>C (p.Asn1563His) c.2404A>C (p.Asn802His) c.2207A>C (n.2207A>C) c.2416A>C (n.2416A>C) n.1620A>C c.4043A>C (n.4043A>C) c.4108A>C (p.Asn1370His) c.4084A>C (p.Asn1362His)
9	g.136504885G>A	CA467832730	NOTCH1	n.2613C>T c.4806C>T (p.Thr1602=) c.4692C>T (p.Thr1564=) c.4686C>T (p.Thr1562=) c.2403C>T (p.Thr801=) c.2206C>T (n.2206C>T) c.2415C>T (n.2415C>T) n.1619C>T c.4042C>T (n.4042C>T) c.4107C>T (p.Thr1369=) c.4083C>T (p.Thr1361=)	dbSNP gnomAD v4
9	g.136504885G>C	CA467832731	NOTCH1	n.2613C>G c.4806C>G (p.Thr1602=) c.4692C>G (p.Thr1564=) c.4686C>G (p.Thr1562=) c.2403C>G (p.Thr801=) c.2206C>G (n.2206C>G) c.2415C>G (n.2415C>G) n.1619C>G c.4042C>G (n.4042C>G) c.4107C>G (p.Thr1369=) c.4083C>G (p.Thr1361=)	ClinVar dbSNP
9	g.136504885G>T	CA467832732	NOTCH1	n.2613C>A c.4806C>A (p.Thr1602=) c.4692C>A (p.Thr1564=) c.4686C>A (p.Thr1562=) c.2403C>A (p.Thr801=) c.2206C>A (n.2206C>A) c.2415C>A (n.2415C>A) n.1619C>A c.4042C>A (n.4042C>A) c.4107C>A (p.Thr1369=) c.4083C>A (p.Thr1361=)	dbSNP gnomAD v4
9	g.136504888_136504889insCGGGTG	CA645543428	NOTCH1	n.2613_2614insCGCACC c.4806_4807insCGCACC (p.Thr1602_Asn1603insArgThr) c.4692_4693insCGCACC (p.Thr1564_Asn1565insArgThr) c.4686_4687insCGCACC (p.Thr1562_Asn1563insArgThr) c.2403_2404insCGCACC (p.Thr801_Asn802insArgThr) c.2206_2207insCGCACC (n.2206_2207insCGCACC) c.2415_2416insCGCACC (n.2415_2416insCGCACC) n.1619_1620insCGCACC c.4042_4043insCGCACC (n.4042_4043insCGCACC) c.4107_4108insCGCACC (p.Thr1369_Asn1370insArgThr) c.4083_4084insCGCACC (p.Thr1361_Asn1362insArgThr)	COSMIC COSMIC
9	g.136504886G>A	CA375644899	NOTCH1	n.2612C>T c.4805C>T (p.Thr1602Ile) c.4691C>T (p.Thr1564Ile) c.4685C>T (p.Thr1562Ile) c.2402C>T (p.Thr801Ile) c.2205C>T (n.2205C>T) c.2414C>T (n.2414C>T) n.1618C>T c.4041C>T (n.4041C>T) c.4106C>T (p.Thr1369Ile) c.4082C>T (p.Thr1361Ile)	dbSNP
9	g.136504886G>C	CA375644901	NOTCH1	n.2612C>G c.4805C>G (p.Thr1602Ser) c.4691C>G (p.Thr1564Ser) c.4685C>G (p.Thr1562Ser) c.2402C>G (p.Thr801Ser) c.2205C>G (n.2205C>G) c.2414C>G (n.2414C>G) n.1618C>G c.4041C>G (n.4041C>G) c.4106C>G (p.Thr1369Ser) c.4082C>G (p.Thr1361Ser)	dbSNP
9	g.136504886G>T	CA375644903	NOTCH1	n.2612C>A c.4805C>A (p.Thr1602Asn) c.4691C>A (p.Thr1564Asn) c.4685C>A (p.Thr1562Asn) c.2402C>A (p.Thr801Asn) c.2205C>A (n.2205C>A) c.2414C>A (n.2414C>A) n.1618C>A c.4041C>A (n.4041C>A) c.4106C>A (p.Thr1369Asn) c.4082C>A (p.Thr1361Asn)	dbSNP gnomAD v4
9	g.136504887T>A	CA375644906	NOTCH1	n.2611A>T c.4804A>T (p.Thr1602Ser) c.4690A>T (p.Thr1564Ser) c.4684A>T (p.Thr1562Ser) c.2401A>T (p.Thr801Ser) c.2204A>T (n.2204A>T) c.2413A>T (n.2413A>T) n.1617A>T c.4040A>T (n.4040A>T) c.4105A>T (p.Thr1369Ser) c.4081A>T (p.Thr1361Ser)	dbSNP
9	g.136504887T>C	CA375644908	NOTCH1	n.2611A>G c.4804A>G (p.Thr1602Ala) c.4690A>G (p.Thr1564Ala) c.4684A>G (p.Thr1562Ala) c.2401A>G (p.Thr801Ala) c.2204A>G (n.2204A>G) c.2413A>G (n.2413A>G) n.1617A>G c.4040A>G (n.4040A>G) c.4105A>G (p.Thr1369Ala) c.4081A>G (p.Thr1361Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504887T>G	CA375644910	NOTCH1	n.2611A>C c.4804A>C (p.Thr1602Pro) c.4690A>C (p.Thr1564Pro) c.4684A>C (p.Thr1562Pro) c.2401A>C (p.Thr801Pro) c.2204A>C (n.2204A>C) c.2413A>C (n.2413A>C) n.1617A>C c.4040A>C (n.4040A>C) c.4105A>C (p.Thr1369Pro) c.4081A>C (p.Thr1361Pro)	dbSNP
9	g.136504888G>A	CA467832734	NOTCH1	n.2610C>T c.4803C>T (p.His1601=) c.4689C>T (p.His1563=) c.4683C>T (p.His1561=) c.2400C>T (p.His800=) c.2203C>T (n.2203C>T) c.2412C>T (n.2412C>T) n.1616C>T c.4039C>T (n.4039C>T) c.4104C>T (p.His1368=) c.4080C>T (p.His1360=)	dbSNP gnomAD v4
9	g.136504888G>C	CA375644913	NOTCH1	n.2610C>G c.4803C>G (p.His1601Gln) c.4689C>G (p.His1563Gln) c.4683C>G (p.His1561Gln) c.2400C>G (p.His800Gln) c.2203C>G (n.2203C>G) c.2412C>G (n.2412C>G) n.1616C>G c.4039C>G (n.4039C>G) c.4104C>G (p.His1368Gln) c.4080C>G (p.His1360Gln)	dbSNP gnomAD v4
9	g.136504888G>T	CA375644915	NOTCH1	n.2610C>A c.4803C>A (p.His1601Gln) c.4689C>A (p.His1563Gln) c.4683C>A (p.His1561Gln) c.2400C>A (p.His800Gln) c.2203C>A (n.2203C>A) c.2412C>A (n.2412C>A) n.1616C>A c.4039C>A (n.4039C>A) c.4104C>A (p.His1368Gln) c.4080C>A (p.His1360Gln)	dbSNP gnomAD v4
9	g.136504889T>A	CA375644919	NOTCH1	n.2609A>T c.4802A>T (p.His1601Leu) c.4688A>T (p.His1563Leu) c.4682A>T (p.His1561Leu) c.2399A>T (p.His800Leu) c.2202A>T (n.2202A>T) c.2411A>T (n.2411A>T) n.1615A>T c.4038A>T (n.4038A>T) c.4103A>T (p.His1368Leu) c.4079A>T (p.His1360Leu)	dbSNP
9	g.136504889T>C	CA375644921	NOTCH1	n.2609A>G c.4802A>G (p.His1601Arg) c.4688A>G (p.His1563Arg) c.4682A>G (p.His1561Arg) c.2399A>G (p.His800Arg) c.2202A>G (n.2202A>G) c.2411A>G (n.2411A>G) n.1615A>G c.4038A>G (n.4038A>G) c.4103A>G (p.His1368Arg) c.4079A>G (p.His1360Arg)	ClinVar dbSNP gnomAD v4
9	g.136504889T>G	CA375644924	NOTCH1	n.2609A>C c.4802A>C (p.His1601Pro) c.4688A>C (p.His1563Pro) c.4682A>C (p.His1561Pro) c.2399A>C (p.His800Pro) c.2202A>C (n.2202A>C) c.2411A>C (n.2411A>C) n.1615A>C c.4038A>C (n.4038A>C) c.4103A>C (p.His1368Pro) c.4079A>C (p.His1360Pro)	dbSNP COSMIC
9	g.136504890G>A	CA375644932	NOTCH1	n.2608C>T c.4801C>T (p.His1601Tyr) c.4687C>T (p.His1563Tyr) c.4681C>T (p.His1561Tyr) c.2398C>T (p.His800Tyr) c.2201C>T (n.2201C>T) c.2410C>T (n.2410C>T) n.1614C>T c.4037C>T (n.4037C>T) c.4102C>T (p.His1368Tyr) c.4078C>T (p.His1360Tyr)	dbSNP gnomAD v4
9	g.136504890G>C	CA375644934	NOTCH1	n.2608C>G c.4801C>G (p.His1601Asp) c.4687C>G (p.His1563Asp) c.4681C>G (p.His1561Asp) c.2398C>G (p.His800Asp) c.2201C>G (n.2201C>G) c.2410C>G (n.2410C>G) n.1614C>G c.4037C>G (n.4037C>G) c.4102C>G (p.His1368Asp) c.4078C>G (p.His1360Asp)	dbSNP
9	g.136504890G>T	CA375644929	NOTCH1	n.2608C>A c.4801C>A (p.His1601Asn) c.4687C>A (p.His1563Asn) c.4681C>A (p.His1561Asn) c.2398C>A (p.His800Asn) c.2201C>A (n.2201C>A) c.2410C>A (n.2410C>A) n.1614C>A c.4037C>A (n.4037C>A) c.4102C>A (p.His1368Asn) c.4078C>A (p.His1360Asn)	ClinVar gnomAD v4
9	g.136504890_136504891insGAG	CA645543429	NOTCH1	n.2608_2609insTCC c.4801_4802insTCC (p.Leu1600_His1601insLeu) c.4687_4688insTCC (p.Leu1562_His1563insLeu) c.4681_4682insTCC (p.Leu1560_His1561insLeu) c.2398_2399insTCC (p.Leu799_His800insLeu) c.2201_2202insTCC (n.2201_2202insTCC) c.2410_2411insTCC (n.2410_2411insTCC) n.1614_1615insTCC c.4037_4038insTCC (n.4037_4038insTCC) c.4102_4103insTCC (p.Leu1367_His1368insLeu) c.4078_4079insTCC (p.Leu1359_His1360insLeu)	COSMIC COSMIC
9	g.136504891C>A	CA467832736	NOTCH1	n.2607G>T c.4800G>T (p.Leu1600=) c.4686G>T (p.Leu1562=) c.4680G>T (p.Leu1560=) c.2397G>T (p.Leu799=) c.2200G>T (n.2200G>T) c.2409G>T (n.2409G>T) n.1613G>T c.4036G>T (n.4036G>T) c.4101G>T (p.Leu1367=) c.4077G>T (p.Leu1359=)	dbSNP gnomAD v4
9	g.136504891C>G	CA467832737	NOTCH1	n.2607G>C c.4800G>C (p.Leu1600=) c.4686G>C (p.Leu1562=) c.4680G>C (p.Leu1560=) c.2397G>C (p.Leu799=) c.2200G>C (n.2200G>C) c.2409G>C (n.2409G>C) n.1613G>C c.4036G>C (n.4036G>C) c.4101G>C (p.Leu1367=) c.4077G>C (p.Leu1359=)	dbSNP
9	g.136504891C>T	CA5340513	NOTCH1	n.2607G>A c.4800G>A (p.Leu1600=) c.4686G>A (p.Leu1562=) c.4680G>A (p.Leu1560=) c.2397G>A (p.Leu799=) c.2200G>A (n.2200G>A) c.2409G>A (n.2409G>A) n.1613G>A c.4036G>A (n.4036G>A) c.4101G>A (p.Leu1367=) c.4077G>A (p.Leu1359=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504892A>C	CA375644944	NOTCH1	n.2606T>G c.4799T>G (p.Leu1600Arg) c.4685T>G (p.Leu1562Arg) c.4679T>G (p.Leu1560Arg) c.2396T>G (p.Leu799Arg) c.2199T>G (n.2199T>G) c.2408T>G (n.2408T>G) n.1612T>G c.4035T>G (n.4035T>G) c.4100T>G (p.Leu1367Arg) c.4076T>G (p.Leu1359Arg)
9	g.136504892A>G	CA375644945	NOTCH1	n.2606T>C c.4799T>C (p.Leu1600Pro) c.4685T>C (p.Leu1562Pro) c.4679T>C (p.Leu1560Pro) c.2396T>C (p.Leu799Pro) c.2199T>C (n.2199T>C) c.2408T>C (n.2408T>C) n.1612T>C c.4035T>C (n.4035T>C) c.4100T>C (p.Leu1367Pro) c.4076T>C (p.Leu1359Pro)	dbSNP COSMIC COSMIC
9	g.136504892A>T	CA375644946	NOTCH1	n.2606T>A c.4799T>A (p.Leu1600Gln) c.4685T>A (p.Leu1562Gln) c.4679T>A (p.Leu1560Gln) c.2396T>A (p.Leu799Gln) c.2199T>A (n.2199T>A) c.2408T>A (n.2408T>A) n.1612T>A c.4035T>A (n.4035T>A) c.4100T>A (p.Leu1367Gln) c.4076T>A (p.Leu1359Gln)	dbSNP COSMIC COSMIC
9	g.136504892_136504893insT	CA645543430	NOTCH1	n.2605_2606insA c.4798_4799insA (p.Leu1600HisfsTer10) c.4684_4685insA (p.Leu1562HisfsTer10) c.4678_4679insA (p.Leu1560HisfsTer10) c.2395_2396insA (p.Leu799HisfsTer10) c.2198_2199insA (n.2198_2199insA) c.2407_2408insA (n.2407_2408insA) n.1611_1612insA c.4034_4035insA (n.4034_4035insA) c.4099_4100insA (p.Leu1367HisfsTer10) c.4075_4076insA (p.Leu1359HisfsTer10)	dbSNP COSMIC COSMIC
9	g.136504893G>A	CA467832739	NOTCH1	n.2605C>T c.4798C>T (p.Leu1600=) c.4684C>T (p.Leu1562=) c.4678C>T (p.Leu1560=) c.2395C>T (p.Leu799=) c.2198C>T (n.2198C>T) c.2407C>T (n.2407C>T) n.1611C>T c.4034C>T (n.4034C>T) c.4099C>T (p.Leu1367=) c.4075C>T (p.Leu1359=)	ClinVar dbSNP gnomAD v4
9	g.136504893G>C	CA375644948	NOTCH1	n.2605C>G c.4798C>G (p.Leu1600Val) c.4684C>G (p.Leu1562Val) c.4678C>G (p.Leu1560Val) c.2395C>G (p.Leu799Val) c.2198C>G (n.2198C>G) c.2407C>G (n.2407C>G) n.1611C>G c.4034C>G (n.4034C>G) c.4099C>G (p.Leu1367Val) c.4075C>G (p.Leu1359Val)
9	g.136504893G>T	CA375644951	NOTCH1	n.2605C>A c.4798C>A (p.Leu1600Met) c.4684C>A (p.Leu1562Met) c.4678C>A (p.Leu1560Met) c.2395C>A (p.Leu799Met) c.2198C>A (n.2198C>A) c.2407C>A (n.2407C>A) n.1611C>A c.4034C>A (n.4034C>A) c.4099C>A (p.Leu1367Met) c.4075C>A (p.Leu1359Met)	dbSNP gnomAD v4
9	g.136504893dup	CA645543431	NOTCH1	n.2605dup c.4798dup (p.Leu1600ProfsTer10) c.4684dup (p.Leu1562ProfsTer10) c.4678dup (p.Leu1560ProfsTer10) c.2395dup (p.Leu799ProfsTer10) c.2198dup (n.2198dup) c.2407dup (n.2407dup) n.1611dup c.4034dup (n.4034dup) c.4099dup (p.Leu1367ProfsTer10) c.4075dup (p.Leu1359ProfsTer10)	dbSNP COSMIC COSMIC
9	g.136504894C>A	CA467832740	NOTCH1	n.2604G>T c.4797G>T (p.Val1599=) c.4683G>T (p.Val1561=) c.4677G>T (p.Val1559=) c.2394G>T (p.Val798=) c.2197G>T (n.2197G>T) c.2406G>T (n.2406G>T) n.1610G>T c.4033G>T (n.4033G>T) c.4098G>T (p.Val1366=) c.4074G>T (p.Val1358=)	dbSNP gnomAD v4
9	g.136504894C>G	CA5340514	NOTCH1	n.2604G>C c.4797G>C (p.Val1599=) c.4683G>C (p.Val1561=) c.4677G>C (p.Val1559=) c.2394G>C (p.Val798=) c.2197G>C (n.2197G>C) c.2406G>C (n.2406G>C) n.1610G>C c.4033G>C (n.4033G>C) c.4098G>C (p.Val1366=) c.4074G>C (p.Val1358=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504894C>T	CA467832741	NOTCH1	n.2604G>A c.4797G>A (p.Val1599=) c.4683G>A (p.Val1561=) c.4677G>A (p.Val1559=) c.2394G>A (p.Val798=) c.2197G>A (n.2197G>A) c.2406G>A (n.2406G>A) n.1610G>A c.4033G>A (n.4033G>A) c.4098G>A (p.Val1366=) c.4074G>A (p.Val1358=)	dbSNP gnomAD v4
9	g.136504895A>C	CA375644956	NOTCH1	n.2603T>G c.4796T>G (p.Val1599Gly) c.4682T>G (p.Val1561Gly) c.4676T>G (p.Val1559Gly) c.2393T>G (p.Val798Gly) c.2196T>G (n.2196T>G) c.2405T>G (n.2405T>G) n.1609T>G c.4032T>G (n.4032T>G) c.4097T>G (p.Val1366Gly) c.4073T>G (p.Val1358Gly)	dbSNP COSMIC
9	g.136504895A>G	CA375644958	NOTCH1	n.2603T>C c.4796T>C (p.Val1599Ala) c.4682T>C (p.Val1561Ala) c.4676T>C (p.Val1559Ala) c.2393T>C (p.Val798Ala) c.2196T>C (n.2196T>C) c.2405T>C (n.2405T>C) n.1609T>C c.4032T>C (n.4032T>C) c.4097T>C (p.Val1366Ala) c.4073T>C (p.Val1358Ala)	dbSNP
9	g.136504895A>T	CA375644960	NOTCH1	n.2603T>A c.4796T>A (p.Val1599Glu) c.4682T>A (p.Val1561Glu) c.4676T>A (p.Val1559Glu) c.2393T>A (p.Val798Glu) c.2196T>A (n.2196T>A) c.2405T>A (n.2405T>A) n.1609T>A c.4032T>A (n.4032T>A) c.4097T>A (p.Val1366Glu) c.4073T>A (p.Val1358Glu)	dbSNP
9	g.136504896C>A	CA375644963	NOTCH1	n.2602G>T c.4795G>T (p.Val1599Leu) c.4681G>T (p.Val1561Leu) c.4675G>T (p.Val1559Leu) c.2392G>T (p.Val798Leu) c.2195G>T (n.2195G>T) c.2404G>T (n.2404G>T) n.1608G>T c.4031G>T (n.4031G>T) c.4096G>T (p.Val1366Leu) c.4072G>T (p.Val1358Leu)	gnomAD v4
9	g.136504896C>G	CA375644964	NOTCH1	n.2602G>C c.4795G>C (p.Val1599Leu) c.4681G>C (p.Val1561Leu) c.4675G>C (p.Val1559Leu) c.2392G>C (p.Val798Leu) c.2195G>C (n.2195G>C) c.2404G>C (n.2404G>C) n.1608G>C c.4031G>C (n.4031G>C) c.4096G>C (p.Val1366Leu) c.4072G>C (p.Val1358Leu)	dbSNP
9	g.136504896C>T	CA5340515	NOTCH1	n.2602G>A c.4795G>A (p.Val1599Met) c.4681G>A (p.Val1561Met) c.4675G>A (p.Val1559Met) c.2392G>A (p.Val798Met) c.2195G>A (n.2195G>A) c.2404G>A (n.2404G>A) n.1608G>A c.4031G>A (n.4031G>A) c.4096G>A (p.Val1366Met) c.4072G>A (p.Val1358Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504897G>A	CA16612578	NOTCH1	n.2601C>T c.4794C>T (p.Arg1598=) c.4680C>T (p.Arg1560=) c.4674C>T (p.Arg1558=) c.2391C>T (p.Arg797=) c.2194C>T (n.2194C>T) c.2403C>T (n.2403C>T) n.1607C>T c.4030C>T (n.4030C>T) c.4095C>T (p.Arg1365=) c.4071C>T (p.Arg1357=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9	g.136504897G>C	CA467832743	NOTCH1	n.2601C>G c.4794C>G (p.Arg1598=) c.4680C>G (p.Arg1560=) c.4674C>G (p.Arg1558=) c.2391C>G (p.Arg797=) c.2194C>G (n.2194C>G) c.2403C>G (n.2403C>G) n.1607C>G c.4030C>G (n.4030C>G) c.4095C>G (p.Arg1365=) c.4071C>G (p.Arg1357=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504897G>T	CA467832744	NOTCH1	n.2601C>A c.4794C>A (p.Arg1598=) c.4680C>A (p.Arg1560=) c.4674C>A (p.Arg1558=) c.2391C>A (p.Arg797=) c.2194C>A (n.2194C>A) c.2403C>A (n.2403C>A) n.1607C>A c.4030C>A (n.4030C>A) c.4095C>A (p.Arg1365=) c.4071C>A (p.Arg1357=)
9	g.136504897delinsTCCC	CA645543432	NOTCH1	n.2601delinsGGGA c.4794delinsGGGA (p.Arg1598_Val1599insGly) c.4680delinsGGGA (p.Arg1560_Val1561insGly) c.4674delinsGGGA (p.Arg1558_Val1559insGly) c.2391delinsGGGA (p.Arg797_Val798insGly) c.2194delinsGGGA (n.2194delinsGGGA) c.2403delinsGGGA (n.2403delinsGGGA) n.1607delinsGGGA c.4030delinsGGGA (n.4030delinsGGGA) c.4095delinsGGGA (p.Arg1365_Val1366insGly) c.4071delinsGGGA (p.Arg1357_Val1358insGly)	COSMIC
9	g.136504897_136504898delinsAG	CA645543433	NOTCH1	n.2600_2601delinsCT c.4793_4794delinsCT (p.Arg1598Pro) c.4679_4680delinsCT (p.Arg1560Pro) c.4673_4674delinsCT (p.Arg1558Pro) c.2390_2391delinsCT (p.Arg797Pro) c.2193_2194delinsCT (n.2193_2194delinsCT) c.2402_2403delinsCT (n.2402_2403delinsCT) n.1606_1607delinsCT c.4029_4030delinsCT (n.4029_4030delinsCT) c.4094_4095delinsCT (p.Arg1365Pro) c.4070_4071delinsCT (p.Arg1357Pro)	COSMIC
9	g.136504898C>A	CA375644971	NOTCH1	n.2600G>T c.4793G>T (p.Arg1598Leu) c.4679G>T (p.Arg1560Leu) c.4673G>T (p.Arg1558Leu) c.2390G>T (p.Arg797Leu) c.2193G>T (n.2193G>T) c.2402G>T (n.2402G>T) n.1606G>T c.4029G>T (n.4029G>T) c.4094G>T (p.Arg1365Leu) c.4070G>T (p.Arg1357Leu)	dbSNP gnomAD v4
9	g.136504898C>G	CA375644972	NOTCH1	n.2600G>C c.4793G>C (p.Arg1598Pro) c.4679G>C (p.Arg1560Pro) c.4673G>C (p.Arg1558Pro) c.2390G>C (p.Arg797Pro) c.2193G>C (n.2193G>C) c.2402G>C (n.2402G>C) n.1606G>C c.4029G>C (n.4029G>C) c.4094G>C (p.Arg1365Pro) c.4070G>C (p.Arg1357Pro)	dbSNP COSMIC COSMIC
9	g.136504898C>T	CA5340516	NOTCH1	n.2600G>A c.4793G>A (p.Arg1598His) c.4679G>A (p.Arg1560His) c.4673G>A (p.Arg1558His) c.2390G>A (p.Arg797His) c.2193G>A (n.2193G>A) c.2402G>A (n.2402G>A) n.1606G>A c.4029G>A (n.4029G>A) c.4094G>A (p.Arg1365His) c.4070G>A (p.Arg1357His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9	g.136504898_136504899insTTT	CA645543435	NOTCH1	n.2599_2600insAAA c.4792_4793insAAA (p.Arg1598delinsGlnSer) c.4678_4679insAAA (p.Arg1560delinsGlnSer) c.4672_4673insAAA (p.Arg1558delinsGlnSer) c.2389_2390insAAA (p.Arg797delinsGlnSer) c.2192_2193insAAA (n.2192_2193insAAA) c.2401_2402insAAA (n.2401_2402insAAA) n.1605_1606insAAA c.4028_4029insAAA (n.4028_4029insAAA) c.4093_4094insAAA (p.Arg1365delinsGlnSer) c.4069_4070insAAA (p.Arg1357delinsGlnSer)	COSMIC
9	g.136504899G>A	CA5340517	NOTCH1	n.2599C>T c.4792C>T (p.Arg1598Cys) c.4678C>T (p.Arg1560Cys) c.4672C>T (p.Arg1558Cys) c.2389C>T (p.Arg797Cys) c.2192C>T (n.2192C>T) c.2401C>T (n.2401C>T) n.1605C>T c.4028C>T (n.4028C>T) c.4093C>T (p.Arg1365Cys) c.4069C>T (p.Arg1357Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504899G>C	CA375644973	NOTCH1	n.2599C>G c.4792C>G (p.Arg1598Gly) c.4678C>G (p.Arg1560Gly) c.4672C>G (p.Arg1558Gly) c.2389C>G (p.Arg797Gly) c.2192C>G (n.2192C>G) c.2401C>G (n.2401C>G) n.1605C>G c.4028C>G (n.4028C>G) c.4093C>G (p.Arg1365Gly) c.4069C>G (p.Arg1357Gly)	dbSNP
9	g.136504899G>T	CA375644975	NOTCH1	n.2599C>A c.4792C>A (p.Arg1598Ser) c.4678C>A (p.Arg1560Ser) c.4672C>A (p.Arg1558Ser) c.2389C>A (p.Arg797Ser) c.2192C>A (n.2192C>A) c.2401C>A (n.2401C>A) n.1605C>A c.4028C>A (n.4028C>A) c.4093C>A (p.Arg1365Ser) c.4069C>A (p.Arg1357Ser)	gnomAD v4
9	g.136504900dup	CA645543434	NOTCH1	n.2599dup c.4792dup (p.Arg1598ProfsTer12) c.4678dup (p.Arg1560ProfsTer12) c.4672dup (p.Arg1558ProfsTer12) c.2389dup (p.Arg797ProfsTer12) c.2192dup (n.2192dup) c.2401dup (n.2401dup) n.1605dup c.4028dup (n.4028dup) c.4093dup (p.Arg1365ProfsTer12) c.4069dup (p.Arg1357ProfsTer12)	dbSNP COSMIC COSMIC
9	g.136504899_136504900insCTC	CA645543436	NOTCH1	n.2598_2599insGAG c.4791_4792insGAG (p.Ser1597_Arg1598insGlu) c.4677_4678insGAG (p.Ser1559_Arg1560insGlu) c.4671_4672insGAG (p.Ser1557_Arg1558insGlu) c.2388_2389insGAG (p.Ser796_Arg797insGlu) c.2191_2192insGAG (n.2191_2192insGAG) c.2400_2401insGAG (n.2400_2401insGAG) n.1604_1605insGAG c.4027_4028insGAG (n.4027_4028insGAG) c.4092_4093insGAG (p.Ser1364_Arg1365insGlu) c.4068_4069insGAG (p.Ser1356_Arg1357insGlu)	COSMIC
9	g.136504900G>A	CA467832746	NOTCH1	n.2598C>T c.4791C>T (p.Ser1597=) c.4677C>T (p.Ser1559=) c.4671C>T (p.Ser1557=) c.2388C>T (p.Ser796=) c.2191C>T (n.2191C>T) c.2400C>T (n.2400C>T) n.1604C>T c.4027C>T (n.4027C>T) c.4092C>T (p.Ser1364=) c.4068C>T (p.Ser1356=)	ClinVar gnomAD v4
9	g.136504900G>C	CA375644977	NOTCH1	n.2598C>G c.4791C>G (p.Ser1597Arg) c.4677C>G (p.Ser1559Arg) c.4671C>G (p.Ser1557Arg) c.2388C>G (p.Ser796Arg) c.2191C>G (n.2191C>G) c.2400C>G (n.2400C>G) n.1604C>G c.4027C>G (n.4027C>G) c.4092C>G (p.Ser1364Arg) c.4068C>G (p.Ser1356Arg)
9	g.136504900G>T	CA375644978	NOTCH1	n.2598C>A c.4791C>A (p.Ser1597Arg) c.4677C>A (p.Ser1559Arg) c.4671C>A (p.Ser1557Arg) c.2388C>A (p.Ser796Arg) c.2191C>A (n.2191C>A) c.2400C>A (n.2400C>A) n.1604C>A c.4027C>A (n.4027C>A) c.4092C>A (p.Ser1364Arg) c.4068C>A (p.Ser1356Arg)	gnomAD v4
9	g.136504900_136504901insA	CA645543437	NOTCH1	n.2597_2598insT c.4790_4791insT (p.Arg1598ProfsTer12) c.4676_4677insT (p.Arg1560ProfsTer12) c.4670_4671insT (p.Arg1558ProfsTer12) c.2387_2388insT (p.Arg797ProfsTer12) c.2190_2191insT (n.2190_2191insT) c.2399_2400insT (n.2399_2400insT) n.1603_1604insT c.4026_4027insT (n.4026_4027insT) c.4091_4092insT (p.Arg1365ProfsTer12) c.4067_4068insT (p.Arg1357ProfsTer12)	COSMIC COSMIC
9	g.136504901C>A	CA375644984	NOTCH1	n.2597G>T c.4790G>T (p.Ser1597Ile) c.4676G>T (p.Ser1559Ile) c.4670G>T (p.Ser1557Ile) c.2387G>T (p.Ser796Ile) c.2190G>T (n.2190G>T) c.2399G>T (n.2399G>T) n.1603G>T c.4026G>T (n.4026G>T) c.4091G>T (p.Ser1364Ile) c.4067G>T (p.Ser1356Ile)	ClinVar dbSNP gnomAD v4 COSMIC
9	g.136504901C>G	CA375644983	NOTCH1	n.2597G>C c.4790G>C (p.Ser1597Thr) c.4676G>C (p.Ser1559Thr) c.4670G>C (p.Ser1557Thr) c.2387G>C (p.Ser796Thr) c.2190G>C (n.2190G>C) c.2399G>C (n.2399G>C) n.1603G>C c.4026G>C (n.4026G>C) c.4091G>C (p.Ser1364Thr) c.4067G>C (p.Ser1356Thr)	dbSNP
9	g.136504901C>T	CA375644980	NOTCH1	n.2597G>A c.4790G>A (p.Ser1597Asn) c.4676G>A (p.Ser1559Asn) c.4670G>A (p.Ser1557Asn) c.2387G>A (p.Ser796Asn) c.2190G>A (n.2190G>A) c.2399G>A (n.2399G>A) n.1603G>A c.4026G>A (n.4026G>A) c.4091G>A (p.Ser1364Asn) c.4067G>A (p.Ser1356Asn)	dbSNP
9	g.136504901_136504906delinsGCCTGA	CA645543438	NOTCH1	n.2592_2597delinsTCAGGC c.4785_4790delinsTCAGGC (p.Glu1595_Ser1597delinsAspGlnAla) c.4671_4676delinsTCAGGC (p.Glu1557_Ser1559delinsAspGlnAla) c.4665_4670delinsTCAGGC (p.Glu1555_Ser1557delinsAspGlnAla) c.2382_2387delinsTCAGGC (p.Glu794_Ser796delinsAspGlnAla) c.2185_2190delinsTCAGGC (n.2185_2190delinsTCAGGC) c.2394_2399delinsTCAGGC (n.2394_2399delinsTCAGGC) n.1598_1603delinsTCAGGC c.4021_4026delinsTCAGGC (n.4021_4026delinsTCAGGC) c.4086_4091delinsTCAGGC (p.Glu1362_Ser1364delinsAspGlnAla) c.4062_4067delinsTCAGGC (p.Glu1354_Ser1356delinsAspGlnAla)	COSMIC
9	g.136504902T>A	CA375644986	NOTCH1	n.2596A>T c.4789A>T (p.Ser1597Cys) c.4675A>T (p.Ser1559Cys) c.4669A>T (p.Ser1557Cys) c.2386A>T (p.Ser796Cys) c.2189A>T (n.2189A>T) c.2398A>T (n.2398A>T) n.1602A>T c.4025A>T (n.4025A>T) c.4090A>T (p.Ser1364Cys) c.4066A>T (p.Ser1356Cys)	dbSNP
9	g.136504902T>C	CA375644987	NOTCH1	n.2596A>G c.4789A>G (p.Ser1597Gly) c.4675A>G (p.Ser1559Gly) c.4669A>G (p.Ser1557Gly) c.2386A>G (p.Ser796Gly) c.2189A>G (n.2189A>G) c.2398A>G (n.2398A>G) n.1602A>G c.4025A>G (n.4025A>G) c.4090A>G (p.Ser1364Gly) c.4066A>G (p.Ser1356Gly)	dbSNP
9	g.136504902T>G	CA375644989	NOTCH1	n.2596A>C c.4789A>C (p.Ser1597Arg) c.4675A>C (p.Ser1559Arg) c.4669A>C (p.Ser1557Arg) c.2386A>C (p.Ser796Arg) c.2189A>C (n.2189A>C) c.2398A>C (n.2398A>C) n.1602A>C c.4025A>C (n.4025A>C) c.4090A>C (p.Ser1364Arg) c.4066A>C (p.Ser1356Arg)	dbSNP
9	g.136504902_136504903insTCC	CA645543439	NOTCH1	n.2595_2596insGGA c.4788_4789insGGA (p.Leu1596_Ser1597insGly) c.4674_4675insGGA (p.Leu1558_Ser1559insGly) c.4668_4669insGGA (p.Leu1556_Ser1557insGly) c.2385_2386insGGA (p.Leu795_Ser796insGly) c.2188_2189insGGA (n.2188_2189insGGA) c.2397_2398insGGA (n.2397_2398insGGA) n.1601_1602insGGA c.4024_4025insGGA (n.4024_4025insGGA) c.4089_4090insGGA (p.Leu1363_Ser1364insGly) c.4065_4066insGGA (p.Leu1355_Ser1356insGly)	COSMIC
9	g.136504903G>A	CA467832747	NOTCH1	n.2595C>T c.4788C>T (p.Leu1596=) c.4674C>T (p.Leu1558=) c.4668C>T (p.Leu1556=) c.2385C>T (p.Leu795=) c.2188C>T (n.2188C>T) c.2397C>T (n.2397C>T) n.1601C>T c.4024C>T (n.4024C>T) c.4089C>T (p.Leu1363=) c.4065C>T (p.Leu1355=)	ClinVar dbSNP
9	g.136504903G>C	CA467832748	NOTCH1	n.2595C>G c.4788C>G (p.Leu1596=) c.4674C>G (p.Leu1558=) c.4668C>G (p.Leu1556=) c.2385C>G (p.Leu795=) c.2188C>G (n.2188C>G) c.2397C>G (n.2397C>G) n.1601C>G c.4024C>G (n.4024C>G) c.4089C>G (p.Leu1363=) c.4065C>G (p.Leu1355=)	dbSNP COSMIC COSMIC
9	g.136504903G>T	CA467832749	NOTCH1	n.2595C>A c.4788C>A (p.Leu1596=) c.4674C>A (p.Leu1558=) c.4668C>A (p.Leu1556=) c.2385C>A (p.Leu795=) c.2188C>A (n.2188C>A) c.2397C>A (n.2397C>A) n.1601C>A c.4024C>A (n.4024C>A) c.4089C>A (p.Leu1363=) c.4065C>A (p.Leu1355=)	dbSNP
9	g.136504904A>C	CA375644992	NOTCH1	n.2594T>G c.4787T>G (p.Leu1596Arg) c.4673T>G (p.Leu1558Arg) c.4667T>G (p.Leu1556Arg) c.2384T>G (p.Leu795Arg) c.2187T>G (n.2187T>G) c.2396T>G (n.2396T>G) n.1600T>G c.4023T>G (n.4023T>G) c.4088T>G (p.Leu1363Arg) c.4064T>G (p.Leu1355Arg)	dbSNP
9	g.136504904A>G	CA375644995	NOTCH1	n.2594T>C c.4787T>C (p.Leu1596Pro) c.4673T>C (p.Leu1558Pro) c.4667T>C (p.Leu1556Pro) c.2384T>C (p.Leu795Pro) c.2187T>C (n.2187T>C) c.2396T>C (n.2396T>C) n.1600T>C c.4023T>C (n.4023T>C) c.4088T>C (p.Leu1363Pro) c.4064T>C (p.Leu1355Pro)	dbSNP
9	g.136504904A>T	CA375644997	NOTCH1	n.2594T>A c.4787T>A (p.Leu1596His) c.4673T>A (p.Leu1558His) c.4667T>A (p.Leu1556His) c.2384T>A (p.Leu795His) c.2187T>A (n.2187T>A) c.2396T>A (n.2396T>A) n.1600T>A c.4023T>A (n.4023T>A) c.4088T>A (p.Leu1363His) c.4064T>A (p.Leu1355His)	dbSNP COSMIC
9	g.136504905G>A	CA375645006	NOTCH1	n.2593C>T c.4786C>T (p.Leu1596Phe) c.4672C>T (p.Leu1558Phe) c.4666C>T (p.Leu1556Phe) c.2383C>T (p.Leu795Phe) c.2186C>T (n.2186C>T) c.2395C>T (n.2395C>T) n.1599C>T c.4022C>T (n.4022C>T) c.4087C>T (p.Leu1363Phe) c.4063C>T (p.Leu1355Phe)	dbSNP gnomAD v2 gnomAD v4
9	g.136504905G>C	CA375645000	NOTCH1	n.2593C>G c.4786C>G (p.Leu1596Val) c.4672C>G (p.Leu1558Val) c.4666C>G (p.Leu1556Val) c.2383C>G (p.Leu795Val) c.2186C>G (n.2186C>G) c.2395C>G (n.2395C>G) n.1599C>G c.4022C>G (n.4022C>G) c.4087C>G (p.Leu1363Val) c.4063C>G (p.Leu1355Val)	dbSNP
9	g.136504905G>T	CA375645003	NOTCH1	n.2593C>A c.4786C>A (p.Leu1596Ile) c.4672C>A (p.Leu1558Ile) c.4666C>A (p.Leu1556Ile) c.2383C>A (p.Leu795Ile) c.2186C>A (n.2186C>A) c.2395C>A (n.2395C>A) n.1599C>A c.4022C>A (n.4022C>A) c.4087C>A (p.Leu1363Ile) c.4063C>A (p.Leu1355Ile)	dbSNP gnomAD v4
9	g.136504907_136504912del	CA645543440	NOTCH1	n.2588_2593del c.4781_4786del (p.Arg1594_Glu1595del) c.4667_4672del (p.Arg1556_Glu1557del) c.4661_4666del (p.Arg1554_Glu1555del) c.2378_2383del (p.Arg793_Glu794del) c.2181_2186del (n.2181_2186del) c.2390_2395del (n.2390_2395del) n.1594_1599del c.4017_4022del (n.4017_4022del) c.4082_4087del (p.Arg1361_Glu1362del) c.4058_4063del (p.Arg1353_Glu1354del)	COSMIC
9	g.136504906C>A	CA375645009	NOTCH1	n.2592G>T c.4785G>T (p.Glu1595Asp) c.4671G>T (p.Glu1557Asp) c.4665G>T (p.Glu1555Asp) c.2382G>T (p.Glu794Asp) c.2185G>T (n.2185G>T) c.2394G>T (n.2394G>T) n.1598G>T c.4021G>T (n.4021G>T) c.4086G>T (p.Glu1362Asp) c.4062G>T (p.Glu1354Asp)
9	g.136504906C>G	CA375645012	NOTCH1	n.2592G>C c.4785G>C (p.Glu1595Asp) c.4671G>C (p.Glu1557Asp) c.4665G>C (p.Glu1555Asp) c.2382G>C (p.Glu794Asp) c.2185G>C (n.2185G>C) c.2394G>C (n.2394G>C) n.1598G>C c.4021G>C (n.4021G>C) c.4086G>C (p.Glu1362Asp) c.4062G>C (p.Glu1354Asp)	dbSNP
9	g.136504906C>T	CA467832751	NOTCH1	n.2592G>A c.4785G>A (p.Glu1595=) c.4671G>A (p.Glu1557=) c.4665G>A (p.Glu1555=) c.2382G>A (p.Glu794=) c.2185G>A (n.2185G>A) c.2394G>A (n.2394G>A) n.1598G>A c.4021G>A (n.4021G>A) c.4086G>A (p.Glu1362=) c.4062G>A (p.Glu1354=)	dbSNP
9	g.136504907T>A	CA375645014	NOTCH1	n.2591A>T c.4784A>T (p.Glu1595Val) c.4670A>T (p.Glu1557Val) c.4664A>T (p.Glu1555Val) c.2381A>T (p.Glu794Val) c.2184A>T (n.2184A>T) c.2393A>T (n.2393A>T) n.1597A>T c.4020A>T (n.4020A>T) c.4085A>T (p.Glu1362Val) c.4061A>T (p.Glu1354Val)	dbSNP
9	g.136504907T>C	CA375645017	NOTCH1	n.2591A>G c.4784A>G (p.Glu1595Gly) c.4670A>G (p.Glu1557Gly) c.4664A>G (p.Glu1555Gly) c.2381A>G (p.Glu794Gly) c.2184A>G (n.2184A>G) c.2393A>G (n.2393A>G) n.1597A>G c.4020A>G (n.4020A>G) c.4085A>G (p.Glu1362Gly) c.4061A>G (p.Glu1354Gly)
9	g.136504907T>G	CA375645020	NOTCH1	n.2591A>C c.4784A>C (p.Glu1595Ala) c.4670A>C (p.Glu1557Ala) c.4664A>C (p.Glu1555Ala) c.2381A>C (p.Glu794Ala) c.2184A>C (n.2184A>C) c.2393A>C (n.2393A>C) n.1597A>C c.4020A>C (n.4020A>C) c.4085A>C (p.Glu1362Ala) c.4061A>C (p.Glu1354Ala)
9	g.136504907_136504923delinsCCCCCCAGAAG	CA645543441	NOTCH1	n.2575_2591delinsCTTCTGGGGGG c.4768_4784delinsCTTCTGGGGGG (p.Phe1590_Glu1595delinsLeuLeuGlyGly) c.4654_4670delinsCTTCTGGGGGG (p.Phe1552_Glu1557delinsLeuLeuGlyGly) c.4648_4664delinsCTTCTGGGGGG (p.Phe1550_Glu1555delinsLeuLeuGlyGly) c.2365_2381delinsCTTCTGGGGGG (p.Phe789_Glu794delinsLeuLeuGlyGly) c.2168_2184delinsCTTCTGGGGGG (n.2168_2184delinsCTTCTGGGGGG) c.2377_2393delinsCTTCTGGGGGG (n.2377_2393delinsCTTCTGGGGGG) n.1581_1597delinsCTTCTGGGGGG c.4004_4020delinsCTTCTGGGGGG (n.4004_4020delinsCTTCTGGGGGG) c.4069_4085delinsCTTCTGGGGGG (p.Phe1357_Glu1362delinsLeuLeuGlyGly) c.4045_4061delinsCTTCTGGGGGG (p.Phe1349_Glu1354delinsLeuLeuGlyGly)	COSMIC
9	g.136504908C>A	CA375645023	NOTCH1	n.2590G>T c.4783G>T (p.Glu1595Ter) c.4669G>T (p.Glu1557Ter) c.4663G>T (p.Glu1555Ter) c.2380G>T (p.Glu794Ter) c.2183G>T (n.2183G>T) c.2392G>T (n.2392G>T) n.1596G>T c.4019G>T (n.4019G>T) c.4084G>T (p.Glu1362Ter) c.4060G>T (p.Glu1354Ter)	dbSNP gnomAD v4
9	g.136504908C>G	CA375645024	NOTCH1	n.2590G>C c.4783G>C (p.Glu1595Gln) c.4669G>C (p.Glu1557Gln) c.4663G>C (p.Glu1555Gln) c.2380G>C (p.Glu794Gln) c.2183G>C (n.2183G>C) c.2392G>C (n.2392G>C) n.1596G>C c.4019G>C (n.4019G>C) c.4084G>C (p.Glu1362Gln) c.4060G>C (p.Glu1354Gln)	dbSNP
9	g.136504908C>T	CA375645026	NOTCH1	n.2590G>A c.4783G>A (p.Glu1595Lys) c.4669G>A (p.Glu1557Lys) c.4663G>A (p.Glu1555Lys) c.2380G>A (p.Glu794Lys) c.2183G>A (n.2183G>A) c.2392G>A (n.2392G>A) n.1596G>A c.4019G>A (n.4019G>A) c.4084G>A (p.Glu1362Lys) c.4060G>A (p.Glu1354Lys)	dbSNP
9	g.136504910dup	CA645543442	NOTCH1	n.2590dup c.4783dup (p.Glu1595GlyfsTer15) c.4669dup (p.Glu1557GlyfsTer15) c.4663dup (p.Glu1555GlyfsTer15) c.2380dup (p.Glu794GlyfsTer15) c.2183dup (n.2183dup) c.2392dup (n.2392dup) n.1596dup c.4019dup (n.4019dup) c.4084dup (p.Glu1362GlyfsTer15) c.4060dup (p.Glu1354GlyfsTer15)	COSMIC COSMIC
9	g.136504910del	CA2692634252	NOTCH1	n.2590del c.4783del (p.Glu1595SerfsTer21) c.4669del (p.Glu1557SerfsTer21) c.4663del (p.Glu1555SerfsTer21) c.2380del (p.Glu794SerfsTer21) c.2183del (n.2183del) c.2392del (n.2392del) n.1596del c.4019del (n.4019del) c.4084del (p.Glu1362SerfsTer21) c.4060del (p.Glu1354SerfsTer21)	gnomAD v4
9	g.136504909C>A	CA467832752	NOTCH1	n.2589G>T c.4782G>T (p.Arg1594=) c.4668G>T (p.Arg1556=) c.4662G>T (p.Arg1554=) c.2379G>T (p.Arg793=) c.2182G>T (n.2182G>T) c.2391G>T (n.2391G>T) n.1595G>T c.4018G>T (n.4018G>T) c.4083G>T (p.Arg1361=) c.4059G>T (p.Arg1353=)	dbSNP gnomAD v4
9	g.136504909C>G	CA467832753	NOTCH1	n.2589G>C c.4782G>C (p.Arg1594=) c.4668G>C (p.Arg1556=) c.4662G>C (p.Arg1554=) c.2379G>C (p.Arg793=) c.2182G>C (n.2182G>C) c.2391G>C (n.2391G>C) n.1595G>C c.4018G>C (n.4018G>C) c.4083G>C (p.Arg1361=) c.4059G>C (p.Arg1353=)	dbSNP
9	g.136504909C>T	CA467832754	NOTCH1	n.2589G>A c.4782G>A (p.Arg1594=) c.4668G>A (p.Arg1556=) c.4662G>A (p.Arg1554=) c.2379G>A (p.Arg793=) c.2182G>A (n.2182G>A) c.2391G>A (n.2391G>A) n.1595G>A c.4018G>A (n.4018G>A) c.4083G>A (p.Arg1361=) c.4059G>A (p.Arg1353=)	dbSNP gnomAD v4
9	g.136504909_136504910insGCAGGAAGTGGAAGGAGCTGTTGTGGGGAAGGCGCG	CA645543443	NOTCH1	n.2588_2589insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC c.4781_4782insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Arg1594_Glu1595insAlaProSerProGlnGlnLeuLeuProLeuProAla) c.4667_4668insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Arg1556_Glu1557insAlaProSerProGlnGlnLeuLeuProLeuProAla) c.4661_4662insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Arg1554_Glu1555insAlaProSerProGlnGlnLeuLeuProLeuProAla) c.2378_2379insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Arg793_Glu794insAlaProSerProGlnGlnLeuLeuProLeuProAla) c.2181_2182insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.2181_2182insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) c.2390_2391insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.2390_2391insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) n.1594_1595insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC c.4017_4018insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.4017_4018insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) c.4082_4083insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Arg1361_Glu1362insAlaProSerProGlnGlnLeuLeuProLeuProAla) c.4058_4059insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Arg1353_Glu1354insAlaProSerProGlnGlnLeuLeuProLeuProAla)	COSMIC
9	g.136504910C>A	CA375645027	NOTCH1	n.2588G>T c.4781G>T (p.Arg1594Leu) c.4667G>T (p.Arg1556Leu) c.4661G>T (p.Arg1554Leu) c.2378G>T (p.Arg793Leu) c.2181G>T (n.2181G>T) c.2390G>T (n.2390G>T) n.1594G>T c.4017G>T (n.4017G>T) c.4082G>T (p.Arg1361Leu) c.4058G>T (p.Arg1353Leu)	dbSNP gnomAD v4
9	g.136504910C>G	CA375645028	NOTCH1	n.2588G>C c.4781G>C (p.Arg1594Pro) c.4667G>C (p.Arg1556Pro) c.4661G>C (p.Arg1554Pro) c.2378G>C (p.Arg793Pro) c.2181G>C (n.2181G>C) c.2390G>C (n.2390G>C) n.1594G>C c.4017G>C (n.4017G>C) c.4082G>C (p.Arg1361Pro) c.4058G>C (p.Arg1353Pro)	dbSNP
9	g.136504910C>T	CA375645029	NOTCH1	n.2588G>A c.4781G>A (p.Arg1594Gln) c.4667G>A (p.Arg1556Gln) c.4661G>A (p.Arg1554Gln) c.2378G>A (p.Arg793Gln) c.2181G>A (n.2181G>A) c.2390G>A (n.2390G>A) n.1594G>A c.4017G>A (n.4017G>A) c.4082G>A (p.Arg1361Gln) c.4058G>A (p.Arg1353Gln)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9	g.136504911G>A	CA375645031	NOTCH1	n.2587C>T c.4780C>T (p.Arg1594Trp) c.4666C>T (p.Arg1556Trp) c.4660C>T (p.Arg1554Trp) c.2377C>T (p.Arg793Trp) c.2180C>T (n.2180C>T) c.2389C>T (n.2389C>T) n.1593C>T c.4016C>T (n.4016C>T) c.4081C>T (p.Arg1361Trp) c.4057C>T (p.Arg1353Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504911G>C	CA375645032	NOTCH1	n.2587C>G c.4780C>G (p.Arg1594Gly) c.4666C>G (p.Arg1556Gly) c.4660C>G (p.Arg1554Gly) c.2377C>G (p.Arg793Gly) c.2180C>G (n.2180C>G) c.2389C>G (n.2389C>G) n.1593C>G c.4016C>G (n.4016C>G) c.4081C>G (p.Arg1361Gly) c.4057C>G (p.Arg1353Gly)	dbSNP
9	g.136504911G>T	CA467832757	NOTCH1	n.2587C>A c.4780C>A (p.Arg1594=) c.4666C>A (p.Arg1556=) c.4660C>A (p.Arg1554=) c.2377C>A (p.Arg793=) c.2180C>A (n.2180C>A) c.2389C>A (n.2389C>A) n.1593C>A c.4016C>A (n.4016C>A) c.4081C>A (p.Arg1361=) c.4057C>A (p.Arg1353=)	dbSNP gnomAD v4
9	g.136504911_136504917delinsCCCACAGTGG	CA2695202642	NOTCH1	n.2581_2587delinsCCACTGTGGG c.4774_4780delinsCCACTGTGGG (p.Phe1592_Arg1594delinsProLeuTrpGly) c.4660_4666delinsCCACTGTGGG (p.Phe1554_Arg1556delinsProLeuTrpGly) c.4654_4660delinsCCACTGTGGG (p.Phe1552_Arg1554delinsProLeuTrpGly) c.2371_2377delinsCCACTGTGGG (p.Phe791_Arg793delinsProLeuTrpGly) c.2174_2180delinsCCACTGTGGG (n.2174_2180delinsCCACTGTGGG) c.2383_2389delinsCCACTGTGGG (n.2383_2389delinsCCACTGTGGG) n.1587_1593delinsCCACTGTGGG c.4010_4016delinsCCACTGTGGG (n.4010_4016delinsCCACTGTGGG) c.4075_4081delinsCCACTGTGGG (p.Phe1359_Arg1361delinsProLeuTrpGly) c.4051_4057delinsCCACTGTGGG (p.Phe1351_Arg1353delinsProLeuTrpGly)
9	g.136504933_136504934insTGGGGAAGGCGCGGCAGGAAGTGGAAGGAGCTGTTG	CA645543444	NOTCH1	n.2587_2588insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC c.4780_4781insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1593_Arg1594insProArgLeuProHisAsnSerSerPheHisPheLeu) c.4666_4667insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1555_Arg1556insProArgLeuProHisAsnSerSerPheHisPheLeu) c.4660_4661insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1553_Arg1554insProArgLeuProHisAsnSerSerPheHisPheLeu) c.2377_2378insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu792_Arg793insProArgLeuProHisAsnSerSerPheHisPheLeu) c.2180_2181insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.2180_2181insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) c.2389_2390insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.2389_2390insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) n.1593_1594insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC c.4016_4017insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.4016_4017insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) c.4081_4082insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1360_Arg1361insProArgLeuProHisAsnSerSerPheHisPheLeu) c.4057_4058insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1352_Arg1353insProArgLeuProHisAsnSerSerPheHisPheLeu)	COSMIC COSMIC
9	g.136504912C>A	CA467832758	NOTCH1	n.2586G>T c.4779G>T (p.Leu1593=) c.4665G>T (p.Leu1555=) c.4659G>T (p.Leu1553=) c.2376G>T (p.Leu792=) c.2179G>T (n.2179G>T) c.2388G>T (n.2388G>T) n.1592G>T c.4015G>T (n.4015G>T) c.4080G>T (p.Leu1360=) c.4056G>T (p.Leu1352=)
9	g.136504912C>G	CA467832759	NOTCH1	n.2586G>C c.4779G>C (p.Leu1593=) c.4665G>C (p.Leu1555=) c.4659G>C (p.Leu1553=) c.2376G>C (p.Leu792=) c.2179G>C (n.2179G>C) c.2388G>C (n.2388G>C) n.1592G>C c.4015G>C (n.4015G>C) c.4080G>C (p.Leu1360=) c.4056G>C (p.Leu1352=)	dbSNP
9	g.136504912C>T	CA467832760	NOTCH1	n.2586G>A c.4779G>A (p.Leu1593=) c.4665G>A (p.Leu1555=) c.4659G>A (p.Leu1553=) c.2376G>A (p.Leu792=) c.2179G>A (n.2179G>A) c.2388G>A (n.2388G>A) n.1592G>A c.4015G>A (n.4015G>A) c.4080G>A (p.Leu1360=) c.4056G>A (p.Leu1352=)	dbSNP gnomAD v4
9	g.136504913A>C	CA375645034	NOTCH1	n.2585T>G c.4778T>G (p.Leu1593Arg) c.4664T>G (p.Leu1555Arg) c.4658T>G (p.Leu1553Arg) c.2375T>G (p.Leu792Arg) c.2178T>G (n.2178T>G) c.2387T>G (n.2387T>G) n.1591T>G c.4014T>G (n.4014T>G) c.4079T>G (p.Leu1360Arg) c.4055T>G (p.Leu1352Arg)
9	g.136504913A>G	CA375645037	NOTCH1	n.2585T>C c.4778T>C (p.Leu1593Pro) c.4664T>C (p.Leu1555Pro) c.4658T>C (p.Leu1553Pro) c.2375T>C (p.Leu792Pro) c.2178T>C (n.2178T>C) c.2387T>C (n.2387T>C) n.1591T>C c.4014T>C (n.4014T>C) c.4079T>C (p.Leu1360Pro) c.4055T>C (p.Leu1352Pro)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9	g.136504913A>T	CA375645036	NOTCH1	n.2585T>A c.4778T>A (p.Leu1593Gln) c.4664T>A (p.Leu1555Gln) c.4658T>A (p.Leu1553Gln) c.2375T>A (p.Leu792Gln) c.2178T>A (n.2178T>A) c.2387T>A (n.2387T>A) n.1591T>A c.4014T>A (n.4014T>A) c.4079T>A (p.Leu1360Gln) c.4055T>A (p.Leu1352Gln)	dbSNP
9	g.136504915_136504916insGGGAGG	CA645543445	NOTCH1	n.2585_2586insCCCCCT c.4778_4779insCCCCCT (p.Leu1593_Arg1594insProLeu) c.4664_4665insCCCCCT (p.Leu1555_Arg1556insProLeu) c.4658_4659insCCCCCT (p.Leu1553_Arg1554insProLeu) c.2375_2376insCCCCCT (p.Leu792_Arg793insProLeu) c.2178_2179insCCCCCT (n.2178_2179insCCCCCT) c.2387_2388insCCCCCT (n.2387_2388insCCCCCT) n.1591_1592insCCCCCT c.4014_4015insCCCCCT (n.4014_4015insCCCCCT) c.4079_4080insCCCCCT (p.Leu1360_Arg1361insProLeu) c.4055_4056insCCCCCT (p.Leu1352_Arg1353insProLeu)	COSMIC
9	g.136504913_136504914insC	CA645543448	NOTCH1	n.2584_2585insG c.4777_4778insG (p.Leu1593ArgfsTer17) c.4663_4664insG (p.Leu1555ArgfsTer17) c.4657_4658insG (p.Leu1553ArgfsTer17) c.2374_2375insG (p.Leu792ArgfsTer17) c.2177_2178insG (n.2177_2178insG) c.2386_2387insG (n.2386_2387insG) n.1590_1591insG c.4013_4014insG (n.4013_4014insG) c.4078_4079insG (p.Leu1360ArgfsTer17) c.4054_4055insG (p.Leu1352ArgfsTer17)	COSMIC COSMIC
9	g.136504913_136504914insT	CA645543447	NOTCH1	n.2584_2585insA c.4777_4778insA (p.Leu1593HisfsTer17) c.4663_4664insA (p.Leu1555HisfsTer17) c.4657_4658insA (p.Leu1553HisfsTer17) c.2374_2375insA (p.Leu792HisfsTer17) c.2177_2178insA (n.2177_2178insA) c.2386_2387insA (n.2386_2387insA) n.1590_1591insA c.4013_4014insA (n.4013_4014insA) c.4078_4079insA (p.Leu1360HisfsTer17) c.4054_4055insA (p.Leu1352HisfsTer17)	COSMIC COSMIC
9	g.136504914G>A	CA467832765	NOTCH1	n.2584C>T c.4777C>T (p.Leu1593=) c.4663C>T (p.Leu1555=) c.4657C>T (p.Leu1553=) c.2374C>T (p.Leu792=) c.2177C>T (n.2177C>T) c.2386C>T (n.2386C>T) n.1590C>T c.4013C>T (n.4013C>T) c.4078C>T (p.Leu1360=) c.4054C>T (p.Leu1352=)	dbSNP gnomAD v2 gnomAD v4
9	g.136504914G>C	CA375645039	NOTCH1	n.2584C>G c.4777C>G (p.Leu1593Val) c.4663C>G (p.Leu1555Val) c.4657C>G (p.Leu1553Val) c.2374C>G (p.Leu792Val) c.2177C>G (n.2177C>G) c.2386C>G (n.2386C>G) n.1590C>G c.4013C>G (n.4013C>G) c.4078C>G (p.Leu1360Val) c.4054C>G (p.Leu1352Val)	dbSNP
9	g.136504914G>T	CA375645041	NOTCH1	n.2584C>A c.4777C>A (p.Leu1593Met) c.4663C>A (p.Leu1555Met) c.4657C>A (p.Leu1553Met) c.2374C>A (p.Leu792Met) c.2177C>A (n.2177C>A) c.2386C>A (n.2386C>A) n.1590C>A c.4013C>A (n.4013C>A) c.4078C>A (p.Leu1360Met) c.4054C>A (p.Leu1352Met)	dbSNP COSMIC COSMIC
9	g.136504915_136504916insGGATGG	CA645543446	NOTCH1	n.2584_2585insATCCCC c.4777_4778insATCCCC (p.Phe1592_Leu1593insHisPro) c.4663_4664insATCCCC (p.Phe1554_Leu1555insHisPro) c.4657_4658insATCCCC (p.Phe1552_Leu1553insHisPro) c.2374_2375insATCCCC (p.Phe791_Leu792insHisPro) c.2177_2178insATCCCC (n.2177_2178insATCCCC) c.2386_2387insATCCCC (n.2386_2387insATCCCC) n.1590_1591insATCCCC c.4013_4014insATCCCC (n.4013_4014insATCCCC) c.4078_4079insATCCCC (p.Phe1359_Leu1360insHisPro) c.4054_4055insATCCCC (p.Phe1351_Leu1352insHisPro)	dbSNP COSMIC
9	g.136504915dup	CA645543449	NOTCH1	n.2584dup c.4777dup (p.Leu1593ProfsTer17) c.4663dup (p.Leu1555ProfsTer17) c.4657dup (p.Leu1553ProfsTer17) c.2374dup (p.Leu792ProfsTer17) c.2177dup (n.2177dup) c.2386dup (n.2386dup) n.1590dup c.4013dup (n.4013dup) c.4078dup (p.Leu1360ProfsTer17) c.4054dup (p.Leu1352ProfsTer17)	COSMIC COSMIC
9	g.136504915del	CA467832764	NOTCH1	n.2584del c.4777del (p.Leu1593CysfsTer23) c.4663del (p.Leu1555CysfsTer23) c.4657del (p.Leu1553CysfsTer23) c.2374del (p.Leu792CysfsTer23) c.2177del (n.2177del) c.2386del (n.2386del) n.1590del c.4013del (n.4013del) c.4078del (p.Leu1360CysfsTer23) c.4054del (p.Leu1352CysfsTer23)	COSMIC
9	g.136504914_136504915insCCA	CA645543451	NOTCH1	n.2583_2584insTGG c.4776_4777insTGG (p.Phe1592_Leu1593insTrp) c.4662_4663insTGG (p.Phe1554_Leu1555insTrp) c.4656_4657insTGG (p.Phe1552_Leu1553insTrp) c.2373_2374insTGG (p.Phe791_Leu792insTrp) c.2176_2177insTGG (n.2176_2177insTGG) c.2385_2386insTGG (n.2385_2386insTGG) n.1589_1590insTGG c.4012_4013insTGG (n.4012_4013insTGG) c.4077_4078insTGG (p.Phe1359_Leu1360insTrp) c.4053_4054insTGG (p.Phe1351_Leu1352insTrp)	dbSNP COSMIC
9	g.136504915G>A	CA5340518	NOTCH1	n.2583C>T c.4776C>T (p.Phe1592=) c.4662C>T (p.Phe1554=) c.4656C>T (p.Phe1552=) c.2373C>T (p.Phe791=) c.2176C>T (n.2176C>T) c.2385C>T (n.2385C>T) n.1589C>T c.4012C>T (n.4012C>T) c.4077C>T (p.Phe1359=) c.4053C>T (p.Phe1351=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9	g.136504915G>C	CA375645046	NOTCH1	n.2583C>G c.4776C>G (p.Phe1592Leu) c.4662C>G (p.Phe1554Leu) c.4656C>G (p.Phe1552Leu) c.2373C>G (p.Phe791Leu) c.2176C>G (n.2176C>G) c.2385C>G (n.2385C>G) n.1589C>G c.4012C>G (n.4012C>G) c.4077C>G (p.Phe1359Leu) c.4053C>G (p.Phe1351Leu)	dbSNP
9	g.136504915G>T	CA375645048	NOTCH1	n.2583C>A c.4776C>A (p.Phe1592Leu) c.4662C>A (p.Phe1554Leu) c.4656C>A (p.Phe1552Leu) c.2373C>A (p.Phe791Leu) c.2176C>A (n.2176C>A) c.2385C>A (n.2385C>A) n.1589C>A c.4012C>A (n.4012C>A) c.4077C>A (p.Phe1359Leu) c.4053C>A (p.Phe1351Leu)	ClinVar dbSNP gnomAD v4
9	g.136504915delinsCGGCCCC	CA645543452	NOTCH1	n.2583delinsGGGGCCG c.4776delinsGGGGCCG (p.Phe1592delinsLeuGlyPro) c.4662delinsGGGGCCG (p.Phe1554delinsLeuGlyPro) c.4656delinsGGGGCCG (p.Phe1552delinsLeuGlyPro) c.2373delinsGGGGCCG (p.Phe791delinsLeuGlyPro) c.2176delinsGGGGCCG (n.2176delinsGGGGCCG) c.2385delinsGGGGCCG (n.2385delinsGGGGCCG) n.1589delinsGGGGCCG c.4012delinsGGGGCCG (n.4012delinsGGGGCCG) c.4077delinsGGGGCCG (p.Phe1359delinsLeuGlyPro) c.4053delinsGGGGCCG (p.Phe1351delinsLeuGlyPro)	dbSNP COSMIC
9	g.136504915delinsTCCCTCC	CA645543453	NOTCH1	n.2583delinsGGAGGGA c.4776delinsGGAGGGA (p.Phe1592delinsLeuGluGly) c.4662delinsGGAGGGA (p.Phe1554delinsLeuGluGly) c.4656delinsGGAGGGA (p.Phe1552delinsLeuGluGly) c.2373delinsGGAGGGA (p.Phe791delinsLeuGluGly) c.2176delinsGGAGGGA (n.2176delinsGGAGGGA) c.2385delinsGGAGGGA (n.2385delinsGGAGGGA) n.1589delinsGGAGGGA c.4012delinsGGAGGGA (n.4012delinsGGAGGGA) c.4077delinsGGAGGGA (p.Phe1359delinsLeuGluGly) c.4053delinsGGAGGGA (p.Phe1351delinsLeuGluGly)	dbSNP COSMIC
9	g.136504915delinsTGGATAA	CA645543454	NOTCH1	n.2583delinsTTATCCA c.4776delinsTTATCCA (p.Phe1592_Leu1593insTyrPro) c.4662delinsTTATCCA (p.Phe1554_Leu1555insTyrPro) c.4656delinsTTATCCA (p.Phe1552_Leu1553insTyrPro) c.2373delinsTTATCCA (p.Phe791_Leu792insTyrPro) c.2176delinsTTATCCA (n.2176delinsTTATCCA) c.2385delinsTTATCCA (n.2385delinsTTATCCA) n.1589delinsTTATCCA c.4012delinsTTATCCA (n.4012delinsTTATCCA) c.4077delinsTTATCCA (p.Phe1359_Leu1360insTyrPro) c.4053delinsTTATCCA (p.Phe1351_Leu1352insTyrPro)	COSMIC
9	g.136504915_136504916insGGAACG	CA645543450	NOTCH1	n.2583_2584insGTTCCC c.4776_4777insGTTCCC (p.Phe1592_Leu1593insValPro) c.4662_4663insGTTCCC (p.Phe1554_Leu1555insValPro) c.4656_4657insGTTCCC (p.Phe1552_Leu1553insValPro) c.2373_2374insGTTCCC (p.Phe791_Leu792insValPro) c.2176_2177insGTTCCC (n.2176_2177insGTTCCC) c.2385_2386insGTTCCC (n.2385_2386insGTTCCC) n.1589_1590insGTTCCC c.4012_4013insGTTCCC (n.4012_4013insGTTCCC) c.4077_4078insGTTCCC (p.Phe1359_Leu1360insValPro) c.4053_4054insGTTCCC (p.Phe1351_Leu1352insValPro)	COSMIC COSMIC
9	g.136504915_136504917delinsTGG	CA645543455	NOTCH1	n.2581_2583delinsCCA c.4774_4776delinsCCA (p.Phe1592Pro) c.4660_4662delinsCCA (p.Phe1554Pro) c.4654_4656delinsCCA (p.Phe1552Pro) c.2371_2373delinsCCA (p.Phe791Pro) c.2174_2176delinsCCA (n.2174_2176delinsCCA) c.2383_2385delinsCCA (n.2383_2385delinsCCA) n.1587_1589delinsCCA c.4010_4012delinsCCA (n.4010_4012delinsCCA) c.4075_4077delinsCCA (p.Phe1359Pro) c.4051_4053delinsCCA (p.Phe1351Pro)	COSMIC
9	g.136504915_136504916insCCC	CA645543469	NOTCH1	n.2582_2583insGGG c.4775_4776insGGG (p.Phe1592delinsLeuGly) c.4661_4662insGGG (p.Phe1554delinsLeuGly) c.4655_4656insGGG (p.Phe1552delinsLeuGly) c.2372_2373insGGG (p.Phe791delinsLeuGly) c.2175_2176insGGG (n.2175_2176insGGG) c.2384_2385insGGG (n.2384_2385insGGG) n.1588_1589insGGG c.4011_4012insGGG (n.4011_4012insGGG) c.4076_4077insGGG (p.Phe1359delinsLeuGly) c.4052_4053insGGG (p.Phe1351delinsLeuGly)	dbSNP COSMIC
9	g.136504915_136504916insCTT	CA645543464	NOTCH1	n.2582_2583insAAG c.4775_4776insAAG (p.Phe1592delinsLeuSer) c.4661_4662insAAG (p.Phe1554delinsLeuSer) c.4655_4656insAAG (p.Phe1552delinsLeuSer) c.2372_2373insAAG (p.Phe791delinsLeuSer) c.2175_2176insAAG (n.2175_2176insAAG) c.2384_2385insAAG (n.2384_2385insAAG) n.1588_1589insAAG c.4011_4012insAAG (n.4011_4012insAAG) c.4076_4077insAAG (p.Phe1359delinsLeuSer) c.4052_4053insAAG (p.Phe1351delinsLeuSer)	dbSNP COSMIC
9	g.136504915_136504916insGCC	CA645543457	NOTCH1	n.2582_2583insGGC c.4775_4776insGGC (p.Phe1592delinsLeuAla) c.4661_4662insGGC (p.Phe1554delinsLeuAla) c.4655_4656insGGC (p.Phe1552delinsLeuAla) c.2372_2373insGGC (p.Phe791delinsLeuAla) c.2175_2176insGGC (n.2175_2176insGGC) c.2384_2385insGGC (n.2384_2385insGGC) n.1588_1589insGGC c.4011_4012insGGC (n.4011_4012insGGC) c.4076_4077insGGC (p.Phe1359delinsLeuAla) c.4052_4053insGGC (p.Phe1351delinsLeuAla)	dbSNP COSMIC
9	g.136504915_136504916insGCT	CA645543460	NOTCH1	n.2582_2583insAGC c.4775_4776insAGC (p.Phe1592delinsLeuAla) c.4661_4662insAGC (p.Phe1554delinsLeuAla) c.4655_4656insAGC (p.Phe1552delinsLeuAla) c.2372_2373insAGC (p.Phe791delinsLeuAla) c.2175_2176insAGC (n.2175_2176insAGC) c.2384_2385insAGC (n.2384_2385insAGC) n.1588_1589insAGC c.4011_4012insAGC (n.4011_4012insAGC) c.4076_4077insAGC (p.Phe1359delinsLeuAla) c.4052_4053insAGC (p.Phe1351delinsLeuAla)	dbSNP COSMIC
9	g.136504915_136504916insGTC	CA658820877	NOTCH1	n.2582_2583insGAC c.4775_4776insGAC (p.Phe1592delinsLeuThr) c.4661_4662insGAC (p.Phe1554delinsLeuThr) c.4655_4656insGAC (p.Phe1552delinsLeuThr) c.2372_2373insGAC (p.Phe791delinsLeuThr) c.2175_2176insGAC (n.2175_2176insGAC) c.2384_2385insGAC (n.2384_2385insGAC) n.1588_1589insGAC c.4011_4012insGAC (n.4011_4012insGAC) c.4076_4077insGAC (p.Phe1359delinsLeuThr) c.4052_4053insGAC (p.Phe1351delinsLeuThr)
9	g.136504915_136504916insTCC	CA645543462	NOTCH1	n.2582_2583insGGA c.4775_4776insGGA (p.Phe1592delinsLeuAsp) c.4661_4662insGGA (p.Phe1554delinsLeuAsp) c.4655_4656insGGA (p.Phe1552delinsLeuAsp) c.2372_2373insGGA (p.Phe791delinsLeuAsp) c.2175_2176insGGA (n.2175_2176insGGA) c.2384_2385insGGA (n.2384_2385insGGA) n.1588_1589insGGA c.4011_4012insGGA (n.4011_4012insGGA) c.4076_4077insGGA (p.Phe1359delinsLeuAsp) c.4052_4053insGGA (p.Phe1351delinsLeuAsp)	dbSNP COSMIC
9	g.136504915_136504916insTTA	CA645543466	NOTCH1	n.2582_2583insTAA c.4775_4776insTAA (p.Phe1592_Leu1593insAsn) c.4661_4662insTAA (p.Phe1554_Leu1555insAsn) c.4655_4656insTAA (p.Phe1552_Leu1553insAsn) c.2372_2373insTAA (p.Phe791_Leu792insAsn) c.2175_2176insTAA (n.2175_2176insTAA) c.2384_2385insTAA (n.2384_2385insTAA) n.1588_1589insTAA c.4011_4012insTAA (n.4011_4012insTAA) c.4076_4077insTAA (p.Phe1359_Leu1360insAsn) c.4052_4053insTAA (p.Phe1351_Leu1352insAsn)	dbSNP COSMIC
9	g.136504915_136504916insGCACCC	CA645543458	NOTCH1	n.2582_2583insGGGTGC c.4775_4776insGGGTGC (p.Phe1592delinsLeuGlyAla) c.4661_4662insGGGTGC (p.Phe1554delinsLeuGlyAla) c.4655_4656insGGGTGC (p.Phe1552delinsLeuGlyAla) c.2372_2373insGGGTGC (p.Phe791delinsLeuGlyAla) c.2175_2176insGGGTGC (n.2175_2176insGGGTGC) c.2384_2385insGGGTGC (n.2384_2385insGGGTGC) n.1588_1589insGGGTGC c.4011_4012insGGGTGC (n.4011_4012insGGGTGC) c.4076_4077insGGGTGC (p.Phe1359delinsLeuGlyAla) c.4052_4053insGGGTGC (p.Phe1351delinsLeuGlyAla)	dbSNP COSMIC
9	g.136504915_136504916insGCCCCT	CA645543470	NOTCH1	n.2582_2583insAGGGGC c.4775_4776insAGGGGC (p.Phe1592delinsLeuGlyAla) c.4661_4662insAGGGGC (p.Phe1554delinsLeuGlyAla) c.4655_4656insAGGGGC (p.Phe1552delinsLeuGlyAla) c.2372_2373insAGGGGC (p.Phe791delinsLeuGlyAla) c.2175_2176insAGGGGC (n.2175_2176insAGGGGC) c.2384_2385insAGGGGC (n.2384_2385insAGGGGC) n.1588_1589insAGGGGC c.4011_4012insAGGGGC (n.4011_4012insAGGGGC) c.4076_4077insAGGGGC (p.Phe1359delinsLeuGlyAla) c.4052_4053insAGGGGC (p.Phe1351delinsLeuGlyAla)	dbSNP COSMIC
9	g.136504915_136504916insGCTCCC	CA645543461	NOTCH1	n.2582_2583insGGGAGC c.4775_4776insGGGAGC (p.Phe1592delinsLeuGlyAla) c.4661_4662insGGGAGC (p.Phe1554delinsLeuGlyAla) c.4655_4656insGGGAGC (p.Phe1552delinsLeuGlyAla) c.2372_2373insGGGAGC (p.Phe791delinsLeuGlyAla) c.2175_2176insGGGAGC (n.2175_2176insGGGAGC) c.2384_2385insGGGAGC (n.2384_2385insGGGAGC) n.1588_1589insGGGAGC c.4011_4012insGGGAGC (n.4011_4012insGGGAGC) c.4076_4077insGGGAGC (p.Phe1359delinsLeuGlyAla) c.4052_4053insGGGAGC (p.Phe1351delinsLeuGlyAla)	dbSNP COSMIC
9	g.136504915_136504916insGGGCTC	CA645543459	NOTCH1	n.2582_2583insGAGCCC c.4775_4776insGAGCCC (p.Phe1592delinsLeuSerPro) c.4661_4662insGAGCCC (p.Phe1554delinsLeuSerPro) c.4655_4656insGAGCCC (p.Phe1552delinsLeuSerPro) c.2372_2373insGAGCCC (p.Phe791delinsLeuSerPro) c.2175_2176insGAGCCC (n.2175_2176insGAGCCC) c.2384_2385insGAGCCC (n.2384_2385insGAGCCC) n.1588_1589insGAGCCC c.4011_4012insGAGCCC (n.4011_4012insGAGCCC) c.4076_4077insGAGCCC (p.Phe1359delinsLeuSerPro) c.4052_4053insGAGCCC (p.Phe1351delinsLeuSerPro)	dbSNP COSMIC
9	g.136504915_136504916insTGGCCC	CA645543463	NOTCH1	n.2582_2583insGGGCCA c.4775_4776insGGGCCA (p.Phe1592delinsLeuGlyHis) c.4661_4662insGGGCCA (p.Phe1554delinsLeuGlyHis) c.4655_4656insGGGCCA (p.Phe1552delinsLeuGlyHis) c.2372_2373insGGGCCA (p.Phe791delinsLeuGlyHis) c.2175_2176insGGGCCA (n.2175_2176insGGGCCA) c.2384_2385insGGGCCA (n.2384_2385insGGGCCA) n.1588_1589insGGGCCA c.4011_4012insGGGCCA (n.4011_4012insGGGCCA) c.4076_4077insGGGCCA (p.Phe1359delinsLeuGlyHis) c.4052_4053insGGGCCA (p.Phe1351delinsLeuGlyHis)	dbSNP COSMIC
9	g.136504915_136504916insTCCTCCTTA	CA645543465	NOTCH1	n.2582_2583insTAAGGAGGA c.4775_4776insTAAGGAGGA (p.Phe1592_Leu1593insLysGluAsp) c.4661_4662insTAAGGAGGA (p.Phe1554_Leu1555insLysGluAsp) c.4655_4656insTAAGGAGGA (p.Phe1552_Leu1553insLysGluAsp) c.2372_2373insTAAGGAGGA (p.Phe791_Leu792insLysGluAsp) c.2175_2176insTAAGGAGGA (n.2175_2176insTAAGGAGGA) c.2384_2385insTAAGGAGGA (n.2384_2385insTAAGGAGGA) n.1588_1589insTAAGGAGGA c.4011_4012insTAAGGAGGA (n.4011_4012insTAAGGAGGA) c.4076_4077insTAAGGAGGA (p.Phe1359_Leu1360insLysGluAsp) c.4052_4053insTAAGGAGGA (p.Phe1351_Leu1352insLysGluAsp)	dbSNP COSMIC
9	g.136504915_136504916insGGGAGGGTTGGATTC	CA645543456	NOTCH1	n.2582_2583insGAATCCAACCCTCCC c.4775_4776insGAATCCAACCCTCCC (p.Phe1592delinsLeuAsnProThrLeuPro) c.4661_4662insGAATCCAACCCTCCC (p.Phe1554delinsLeuAsnProThrLeuPro) c.4655_4656insGAATCCAACCCTCCC (p.Phe1552delinsLeuAsnProThrLeuPro) c.2372_2373insGAATCCAACCCTCCC (p.Phe791delinsLeuAsnProThrLeuPro) c.2175_2176insGAATCCAACCCTCCC (n.2175_2176insGAATCCAACCCTCCC) c.2384_2385insGAATCCAACCCTCCC (n.2384_2385insGAATCCAACCCTCCC) n.1588_1589insGAATCCAACCCTCCC c.4011_4012insGAATCCAACCCTCCC (n.4011_4012insGAATCCAACCCTCCC) c.4076_4077insGAATCCAACCCTCCC (p.Phe1359delinsLeuAsnProThrLeuPro) c.4052_4053insGAATCCAACCCTCCC (p.Phe1351delinsLeuAsnProThrLeuPro)	dbSNP COSMIC
9	g.136504916A>C	CA204406	NOTCH1	n.2582T>G c.4775T>G (p.Phe1592Cys) c.4661T>G (p.Phe1554Cys) c.4655T>G (p.Phe1552Cys) c.2372T>G (p.Phe791Cys) c.2175T>G (n.2175T>G) c.2384T>G (n.2384T>G) n.1588T>G c.4011T>G (n.4011T>G) c.4076T>G (p.Phe1359Cys) c.4052T>G (p.Phe1351Cys)	ClinVar dbSNP COSMIC
9	g.136504916A>G	CA375645052	NOTCH1	n.2582T>C c.4775T>C (p.Phe1592Ser) c.4661T>C (p.Phe1554Ser) c.4655T>C (p.Phe1552Ser) c.2372T>C (p.Phe791Ser) c.2175T>C (n.2175T>C) c.2384T>C (n.2384T>C) n.1588T>C c.4011T>C (n.4011T>C) c.4076T>C (p.Phe1359Ser) c.4052T>C (p.Phe1351Ser)	dbSNP COSMIC
9	g.136504916A>T	CA375645054	NOTCH1	n.2582T>A c.4775T>A (p.Phe1592Tyr) c.4661T>A (p.Phe1554Tyr) c.4655T>A (p.Phe1552Tyr) c.2372T>A (p.Phe791Tyr) c.2175T>A (n.2175T>A) c.2384T>A (n.2384T>A) n.1588T>A c.4011T>A (n.4011T>A) c.4076T>A (p.Phe1359Tyr) c.4052T>A (p.Phe1351Tyr)	dbSNP
9	g.136504916_136504918delinsGTC	CA645543471	NOTCH1	n.2580_2582delinsGAC c.4773_4775delinsGAC (p.His1591_Phe1592delinsGlnThr) c.4659_4661delinsGAC (p.His1553_Phe1554delinsGlnThr) c.4653_4655delinsGAC (p.His1551_Phe1552delinsGlnThr) c.2370_2372delinsGAC (p.His790_Phe791delinsGlnThr) c.2173_2175delinsGAC (n.2173_2175delinsGAC) c.2382_2384delinsGAC (n.2382_2384delinsGAC) n.1586_1588delinsGAC c.4009_4011delinsGAC (n.4009_4011delinsGAC) c.4074_4076delinsGAC (p.His1358_Phe1359delinsGlnThr) c.4050_4052delinsGAC (p.His1350_Phe1351delinsGlnThr)	COSMIC
9	g.136504916_136504921delinsGGA	CA645543467	NOTCH1	n.2577_2582delinsTCC c.4770_4775delinsTCC (p.His1591_Phe1592delinsPro) c.4656_4661delinsTCC (p.His1553_Phe1554delinsPro) c.4650_4655delinsTCC (p.His1551_Phe1552delinsPro) c.2367_2372delinsTCC (p.His790_Phe791delinsPro) c.2170_2175delinsTCC (n.2170_2175delinsTCC) c.2379_2384delinsTCC (n.2379_2384delinsTCC) n.1583_1588delinsTCC c.4006_4011delinsTCC (n.4006_4011delinsTCC) c.4071_4076delinsTCC (p.His1358_Phe1359delinsPro) c.4047_4052delinsTCC (p.His1350_Phe1351delinsPro)	COSMIC
9	g.136504916_136504923del	CA645543468	NOTCH1	n.2575_2582del c.4768_4775del (p.Phe1590ProfsTer17) c.4654_4661del (p.Phe1552ProfsTer17) c.4648_4655del (p.Phe1550ProfsTer17) c.2365_2372del (p.Phe789ProfsTer17) c.2168_2175del (n.2168_2175del) c.2377_2384del (n.2377_2384del) n.1581_1588del c.4004_4011del (n.4004_4011del) c.4069_4076del (p.Phe1357ProfsTer17) c.4045_4052del (p.Phe1349ProfsTer17)	COSMIC
9	g.136504916_136504917insG	CA645543472	NOTCH1	n.2581_2582insC c.4774_4775insC (p.Phe1592SerfsTer18) c.4660_4661insC (p.Phe1554SerfsTer18) c.4654_4655insC (p.Phe1552SerfsTer18) c.2371_2372insC (p.Phe791SerfsTer18) c.2174_2175insC (n.2174_2175insC) c.2383_2384insC (n.2383_2384insC) n.1587_1588insC c.4010_4011insC (n.4010_4011insC) c.4075_4076insC (p.Phe1359SerfsTer18) c.4051_4052insC (p.Phe1351SerfsTer18)	COSMIC COSMIC
9	g.136504917A>C	CA375645056	NOTCH1	n.2581T>G c.4774T>G (p.Phe1592Val) c.4660T>G (p.Phe1554Val) c.4654T>G (p.Phe1552Val) c.2371T>G (p.Phe791Val) c.2174T>G (n.2174T>G) c.2383T>G (n.2383T>G) n.1587T>G c.4010T>G (n.4010T>G) c.4075T>G (p.Phe1359Val) c.4051T>G (p.Phe1351Val)
9	g.136504917A>G	CA375645059	NOTCH1	n.2581T>C c.4774T>C (p.Phe1592Leu) c.4660T>C (p.Phe1554Leu) c.4654T>C (p.Phe1552Leu) c.2371T>C (p.Phe791Leu) c.2174T>C (n.2174T>C) c.2383T>C (n.2383T>C) n.1587T>C c.4010T>C (n.4010T>C) c.4075T>C (p.Phe1359Leu) c.4051T>C (p.Phe1351Leu)	dbSNP
9	g.136504917A>T	CA375645060	NOTCH1	n.2581T>A c.4774T>A (p.Phe1592Ile) c.4660T>A (p.Phe1554Ile) c.4654T>A (p.Phe1552Ile) c.2371T>A (p.Phe791Ile) c.2174T>A (n.2174T>A) c.2383T>A (n.2383T>A) n.1587T>A c.4010T>A (n.4010T>A) c.4075T>A (p.Phe1359Ile) c.4051T>A (p.Phe1351Ile)	dbSNP
9	g.136504917_136504919dup	CA645543473	NOTCH1	n.2579_2581dup c.4772_4774dup (p.His1591_Phe1592insTyr) c.4658_4660dup (p.His1553_Phe1554insTyr) c.4652_4654dup (p.His1551_Phe1552insTyr) c.2369_2371dup (p.His790_Phe791insTyr) c.2172_2174dup (n.2172_2174dup) c.2381_2383dup (n.2381_2383dup) n.1585_1587dup c.4008_4010dup (n.4008_4010dup) c.4073_4075dup (p.His1358_Phe1359insTyr) c.4049_4051dup (p.His1350_Phe1351insTyr)	dbSNP COSMIC
9	g.136504918G>A	CA467832767	NOTCH1	n.2580C>T c.4773C>T (p.His1591=) c.4659C>T (p.His1553=) c.4653C>T (p.His1551=) c.2370C>T (p.His790=) c.2173C>T (n.2173C>T) c.2382C>T (n.2382C>T) n.1586C>T c.4009C>T (n.4009C>T) c.4074C>T (p.His1358=) c.4050C>T (p.His1350=)
9	g.136504918G>C	CA375645063	NOTCH1	n.2580C>G c.4773C>G (p.His1591Gln) c.4659C>G (p.His1553Gln) c.4653C>G (p.His1551Gln) c.2370C>G (p.His790Gln) c.2173C>G (n.2173C>G) c.2382C>G (n.2382C>G) n.1586C>G c.4009C>G (n.4009C>G) c.4074C>G (p.His1358Gln) c.4050C>G (p.His1350Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504918G>T	CA375645067	NOTCH1	n.2580C>A c.4773C>A (p.His1591Gln) c.4659C>A (p.His1553Gln) c.4653C>A (p.His1551Gln) c.2370C>A (p.His790Gln) c.2173C>A (n.2173C>A) c.2382C>A (n.2382C>A) n.1586C>A c.4009C>A (n.4009C>A) c.4074C>A (p.His1358Gln) c.4050C>A (p.His1350Gln)	gnomAD v4
9	g.136504919_136504921dup	CA645543474	NOTCH1	n.2578_2580dup c.4771_4773dup (p.His1591_Phe1592insHis) c.4657_4659dup (p.His1553_Phe1554insHis) c.4651_4653dup (p.His1551_Phe1552insHis) c.2368_2370dup (p.His790_Phe791insHis) c.2171_2173dup (n.2171_2173dup) c.2380_2382dup (n.2380_2382dup) n.1584_1586dup c.4007_4009dup (n.4007_4009dup) c.4072_4074dup (p.His1358_Phe1359insHis) c.4048_4050dup (p.His1350_Phe1351insHis)	COSMIC COSMIC
9	g.136504919T>A	CA375645075	NOTCH1	n.2579A>T c.4772A>T (p.His1591Leu) c.4658A>T (p.His1553Leu) c.4652A>T (p.His1551Leu) c.2369A>T (p.His790Leu) c.2172A>T (n.2172A>T) c.2381A>T (n.2381A>T) n.1585A>T c.4008A>T (n.4008A>T) c.4073A>T (p.His1358Leu) c.4049A>T (p.His1350Leu)
9	g.136504919T>C	CA375645070	NOTCH1	n.2579A>G c.4772A>G (p.His1591Arg) c.4658A>G (p.His1553Arg) c.4652A>G (p.His1551Arg) c.2369A>G (p.His790Arg) c.2172A>G (n.2172A>G) c.2381A>G (n.2381A>G) n.1585A>G c.4008A>G (n.4008A>G) c.4073A>G (p.His1358Arg) c.4049A>G (p.His1350Arg)	dbSNP
9	g.136504919T>G	CA375645073	NOTCH1	n.2579A>C c.4772A>C (p.His1591Pro) c.4658A>C (p.His1553Pro) c.4652A>C (p.His1551Pro) c.2369A>C (p.His790Pro) c.2172A>C (n.2172A>C) c.2381A>C (n.2381A>C) n.1585A>C c.4008A>C (n.4008A>C) c.4073A>C (p.His1358Pro) c.4049A>C (p.His1350Pro)
9	g.136504920G>A	CA375645077	NOTCH1	n.2578C>T c.4771C>T (p.His1591Tyr) c.4657C>T (p.His1553Tyr) c.4651C>T (p.His1551Tyr) c.2368C>T (p.His790Tyr) c.2171C>T (n.2171C>T) c.2380C>T (n.2380C>T) n.1584C>T c.4007C>T (n.4007C>T) c.4072C>T (p.His1358Tyr) c.4048C>T (p.His1350Tyr)	dbSNP gnomAD v4
9	g.136504920G>C	CA375645079	NOTCH1	n.2578C>G c.4771C>G (p.His1591Asp) c.4657C>G (p.His1553Asp) c.4651C>G (p.His1551Asp) c.2368C>G (p.His790Asp) c.2171C>G (n.2171C>G) c.2380C>G (n.2380C>G) n.1584C>G c.4007C>G (n.4007C>G) c.4072C>G (p.His1358Asp) c.4048C>G (p.His1350Asp)
9	g.136504920G>T	CA375645082	NOTCH1	n.2578C>A c.4771C>A (p.His1591Asn) c.4657C>A (p.His1553Asn) c.4651C>A (p.His1551Asn) c.2368C>A (p.His790Asn) c.2171C>A (n.2171C>A) c.2380C>A (n.2380C>A) n.1584C>A c.4007C>A (n.4007C>A) c.4072C>A (p.His1358Asn) c.4048C>A (p.His1350Asn)	dbSNP gnomAD v4
9	g.136504921del	CA2692634262	NOTCH1	n.2578del c.4771del (p.His1591ThrfsTer25) c.4657del (p.His1553ThrfsTer25) c.4651del (p.His1551ThrfsTer25) c.2368del (p.His790ThrfsTer25) c.2171del (n.2171del) c.2380del (n.2380del) n.1584del c.4007del (n.4007del) c.4072del (p.His1358ThrfsTer25) c.4048del (p.His1350ThrfsTer25)	gnomAD v4
9	g.136504921G>A	CA467832769	NOTCH1	n.2577C>T c.4770C>T (p.Phe1590=) c.4656C>T (p.Phe1552=) c.4650C>T (p.Phe1550=) c.2367C>T (p.Phe789=) c.2170C>T (n.2170C>T) c.2379C>T (n.2379C>T) n.1583C>T c.4006C>T (n.4006C>T) c.4071C>T (p.Phe1357=) c.4047C>T (p.Phe1349=)
9	g.136504921G>C	CA375645085	NOTCH1	n.2577C>G c.4770C>G (p.Phe1590Leu) c.4656C>G (p.Phe1552Leu) c.4650C>G (p.Phe1550Leu) c.2367C>G (p.Phe789Leu) c.2170C>G (n.2170C>G) c.2379C>G (n.2379C>G) n.1583C>G c.4006C>G (n.4006C>G) c.4071C>G (p.Phe1357Leu) c.4047C>G (p.Phe1349Leu)	gnomAD v4
9	g.136504921G>T	CA375645087	NOTCH1	n.2577C>A c.4770C>A (p.Phe1590Leu) c.4656C>A (p.Phe1552Leu) c.4650C>A (p.Phe1550Leu) c.2367C>A (p.Phe789Leu) c.2170C>A (n.2170C>A) c.2379C>A (n.2379C>A) n.1583C>A c.4006C>A (n.4006C>A) c.4071C>A (p.Phe1357Leu) c.4047C>A (p.Phe1349Leu)	gnomAD v4
9	g.136504922A>C	CA375645089	NOTCH1	n.2576T>G c.4769T>G (p.Phe1590Cys) c.4655T>G (p.Phe1552Cys) c.4649T>G (p.Phe1550Cys) c.2366T>G (p.Phe789Cys) c.2169T>G (n.2169T>G) c.2378T>G (n.2378T>G) n.1582T>G c.4005T>G (n.4005T>G) c.4070T>G (p.Phe1357Cys) c.4046T>G (p.Phe1349Cys)
9	g.136504922A>G	CA375645092	NOTCH1	n.2576T>C c.4769T>C (p.Phe1590Ser) c.4655T>C (p.Phe1552Ser) c.4649T>C (p.Phe1550Ser) c.2366T>C (p.Phe789Ser) c.2169T>C (n.2169T>C) c.2378T>C (n.2378T>C) n.1582T>C c.4005T>C (n.4005T>C) c.4070T>C (p.Phe1357Ser) c.4046T>C (p.Phe1349Ser)	dbSNP
9	g.136504922A>T	CA375645095	NOTCH1	n.2576T>A c.4769T>A (p.Phe1590Tyr) c.4655T>A (p.Phe1552Tyr) c.4649T>A (p.Phe1550Tyr) c.2366T>A (p.Phe789Tyr) c.2169T>A (n.2169T>A) c.2378T>A (n.2378T>A) n.1582T>A c.4005T>A (n.4005T>A) c.4070T>A (p.Phe1357Tyr) c.4046T>A (p.Phe1349Tyr)	dbSNP gnomAD v4
9	g.136504926_136504927insTCTGTTGCGCAGCTGCTCCGGCGGCGTTAAGGA	CA645543475	NOTCH1	n.2576_2577insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT c.4769_4770insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (p.Ser1589_Phe1590insLeuThrProProGluGlnLeuArgAsnArgSer) c.4655_4656insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (p.Ser1551_Phe1552insLeuThrProProGluGlnLeuArgAsnArgSer) c.4649_4650insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (p.Ser1549_Phe1550insLeuThrProProGluGlnLeuArgAsnArgSer) c.2366_2367insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (p.Ser788_Phe789insLeuThrProProGluGlnLeuArgAsnArgSer) c.2169_2170insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (n.2169_2170insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT) c.2378_2379insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (n.2378_2379insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT) n.1582_1583insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT c.4005_4006insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (n.4005_4006insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT) c.4070_4071insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (p.Ser1356_Phe1357insLeuThrProProGluGlnLeuArgAsnArgSer) c.4046_4047insAACGCCGCCGGAGCAGCTGCGCAACAGATCCTT (p.Ser1348_Phe1349insLeuThrProProGluGlnLeuArgAsnArgSer)	COSMIC
9	g.136504922_136504923insTGG	CA645543476	NOTCH1	n.2575_2576insCCA c.4768_4769insCCA (p.Phe1590delinsSerIle) c.4654_4655insCCA (p.Phe1552delinsSerIle) c.4648_4649insCCA (p.Phe1550delinsSerIle) c.2365_2366insCCA (p.Phe789delinsSerIle) c.2168_2169insCCA (n.2168_2169insCCA) c.2377_2378insCCA (n.2377_2378insCCA) n.1581_1582insCCA c.4004_4005insCCA (n.4004_4005insCCA) c.4069_4070insCCA (p.Phe1357delinsSerIle) c.4045_4046insCCA (p.Phe1349delinsSerIle)	COSMIC
9	g.136504923A>C	CA375645097	NOTCH1	n.2575T>G c.4768T>G (p.Phe1590Val) c.4654T>G (p.Phe1552Val) c.4648T>G (p.Phe1550Val) c.2365T>G (p.Phe789Val) c.2168T>G (n.2168T>G) c.2377T>G (n.2377T>G) n.1581T>G c.4004T>G (n.4004T>G) c.4069T>G (p.Phe1357Val) c.4045T>G (p.Phe1349Val)	COSMIC COSMIC
9	g.136504923A>G	CA375645099	NOTCH1	n.2575T>C c.4768T>C (p.Phe1590Leu) c.4654T>C (p.Phe1552Leu) c.4648T>C (p.Phe1550Leu) c.2365T>C (p.Phe789Leu) c.2168T>C (n.2168T>C) c.2377T>C (n.2377T>C) n.1581T>C c.4004T>C (n.4004T>C) c.4069T>C (p.Phe1357Leu) c.4045T>C (p.Phe1349Leu)	dbSNP gnomAD v2 gnomAD v4
9	g.136504923A>T	CA375645101	NOTCH1	n.2575T>A c.4768T>A (p.Phe1590Ile) c.4654T>A (p.Phe1552Ile) c.4648T>A (p.Phe1550Ile) c.2365T>A (p.Phe789Ile) c.2168T>A (n.2168T>A) c.2377T>A (n.2377T>A) n.1581T>A c.4004T>A (n.4004T>A) c.4069T>A (p.Phe1357Ile) c.4045T>A (p.Phe1349Ile)
9	g.136504924G>A	CA201643964	NOTCH1	n.2574C>T c.4767C>T (p.Ser1589=) c.4653C>T (p.Ser1551=) c.4647C>T (p.Ser1549=) c.2364C>T (p.Ser788=) c.2167C>T (n.2167C>T) c.2376C>T (n.2376C>T) n.1580C>T c.4003C>T (n.4003C>T) c.4068C>T (p.Ser1356=) c.4044C>T (p.Ser1348=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504924G>C	CA467832770	NOTCH1	n.2574C>G c.4767C>G (p.Ser1589=) c.4653C>G (p.Ser1551=) c.4647C>G (p.Ser1549=) c.2364C>G (p.Ser788=) c.2167C>G (n.2167C>G) c.2376C>G (n.2376C>G) n.1580C>G c.4003C>G (n.4003C>G) c.4068C>G (p.Ser1356=) c.4044C>G (p.Ser1348=)	dbSNP
9	g.136504924G>T	CA467832771	NOTCH1	n.2574C>A c.4767C>A (p.Ser1589=) c.4653C>A (p.Ser1551=) c.4647C>A (p.Ser1549=) c.2364C>A (p.Ser788=) c.2167C>A (n.2167C>A) c.2376C>A (n.2376C>A) n.1580C>A c.4003C>A (n.4003C>A) c.4068C>A (p.Ser1356=) c.4044C>A (p.Ser1348=)	dbSNP
9	g.136504925G>A	CA375645109	NOTCH1	n.2573C>T c.4766C>T (p.Ser1589Phe) c.4652C>T (p.Ser1551Phe) c.4646C>T (p.Ser1549Phe) c.2363C>T (p.Ser788Phe) c.2166C>T (n.2166C>T) c.2375C>T (n.2375C>T) n.1579C>T c.4002C>T (n.4002C>T) c.4067C>T (p.Ser1356Phe) c.4043C>T (p.Ser1348Phe)	dbSNP
9	g.136504925G>C	CA375645105	NOTCH1	n.2573C>G c.4766C>G (p.Ser1589Cys) c.4652C>G (p.Ser1551Cys) c.4646C>G (p.Ser1549Cys) c.2363C>G (p.Ser788Cys) c.2166C>G (n.2166C>G) c.2375C>G (n.2375C>G) n.1579C>G c.4002C>G (n.4002C>G) c.4067C>G (p.Ser1356Cys) c.4043C>G (p.Ser1348Cys)	dbSNP gnomAD v4
9	g.136504925G>T	CA375645104	NOTCH1	n.2573C>A c.4766C>A (p.Ser1589Tyr) c.4652C>A (p.Ser1551Tyr) c.4646C>A (p.Ser1549Tyr) c.2363C>A (p.Ser788Tyr) c.2166C>A (n.2166C>A) c.2375C>A (n.2375C>A) n.1579C>A c.4002C>A (n.4002C>A) c.4067C>A (p.Ser1356Tyr) c.4043C>A (p.Ser1348Tyr)	dbSNP
9	g.136504926A>C	CA375645112	NOTCH1	n.2572T>G c.4765T>G (p.Ser1589Ala) c.4651T>G (p.Ser1551Ala) c.4645T>G (p.Ser1549Ala) c.2362T>G (p.Ser788Ala) c.2165T>G (n.2165T>G) c.2374T>G (n.2374T>G) n.1578T>G c.4001T>G (n.4001T>G) c.4066T>G (p.Ser1356Ala) c.4042T>G (p.Ser1348Ala)	dbSNP gnomAD v2 gnomAD v4
9	g.136504926A>G	CA375645116	NOTCH1	n.2572T>C c.4765T>C (p.Ser1589Pro) c.4651T>C (p.Ser1551Pro) c.4645T>C (p.Ser1549Pro) c.2362T>C (p.Ser788Pro) c.2165T>C (n.2165T>C) c.2374T>C (n.2374T>C) n.1578T>C c.4001T>C (n.4001T>C) c.4066T>C (p.Ser1356Pro) c.4042T>C (p.Ser1348Pro)	ClinVar dbSNP
9	g.136504926A>T	CA375645113	NOTCH1	n.2572T>A c.4765T>A (p.Ser1589Thr) c.4651T>A (p.Ser1551Thr) c.4645T>A (p.Ser1549Thr) c.2362T>A (p.Ser788Thr) c.2165T>A (n.2165T>A) c.2374T>A (n.2374T>A) n.1578T>A c.4001T>A (n.4001T>A) c.4066T>A (p.Ser1356Thr) c.4042T>A (p.Ser1348Thr)	dbSNP
9	g.136504927G>A	CA5340519	NOTCH1	n.2571C>T c.4764C>T (p.Ser1588=) c.4650C>T (p.Ser1550=) c.4644C>T (p.Ser1548=) c.2361C>T (p.Ser787=) c.2164C>T (n.2164C>T) c.2373C>T (n.2373C>T) n.1577C>T c.4000C>T (n.4000C>T) c.4065C>T (p.Ser1355=) c.4041C>T (p.Ser1347=)	dbSNP ExAC gnomAD v2 gnomAD v4
9	g.136504927G>C	CA375645125	NOTCH1	n.2571C>G c.4764C>G (p.Ser1588Arg) c.4650C>G (p.Ser1550Arg) c.4644C>G (p.Ser1548Arg) c.2361C>G (p.Ser787Arg) c.2164C>G (n.2164C>G) c.2373C>G (n.2373C>G) n.1577C>G c.4000C>G (n.4000C>G) c.4065C>G (p.Ser1355Arg) c.4041C>G (p.Ser1347Arg)	dbSNP
9	g.136504927G>T	CA375645122	NOTCH1	n.2571C>A c.4764C>A (p.Ser1588Arg) c.4650C>A (p.Ser1550Arg) c.4644C>A (p.Ser1548Arg) c.2361C>A (p.Ser787Arg) c.2164C>A (n.2164C>A) c.2373C>A (n.2373C>A) n.1577C>A c.4000C>A (n.4000C>A) c.4065C>A (p.Ser1355Arg) c.4041C>A (p.Ser1347Arg)	gnomAD v4
9	g.136504928C>A	CA375645127	NOTCH1	n.2570G>T c.4763G>T (p.Ser1588Ile) c.4649G>T (p.Ser1550Ile) c.4643G>T (p.Ser1548Ile) c.2360G>T (p.Ser787Ile) c.2163G>T (n.2163G>T) c.2372G>T (n.2372G>T) n.1576G>T c.3999G>T (n.3999G>T) c.4064G>T (p.Ser1355Ile) c.4040G>T (p.Ser1347Ile)	dbSNP gnomAD v4
9	g.136504928C>G	CA375645128	NOTCH1	n.2570G>C c.4763G>C (p.Ser1588Thr) c.4649G>C (p.Ser1550Thr) c.4643G>C (p.Ser1548Thr) c.2360G>C (p.Ser787Thr) c.2163G>C (n.2163G>C) c.2372G>C (n.2372G>C) n.1576G>C c.3999G>C (n.3999G>C) c.4064G>C (p.Ser1355Thr) c.4040G>C (p.Ser1347Thr)	dbSNP
9	g.136504928C>T	CA375645131	NOTCH1	n.2570G>A c.4763G>A (p.Ser1588Asn) c.4649G>A (p.Ser1550Asn) c.4643G>A (p.Ser1548Asn) c.2360G>A (p.Ser787Asn) c.2163G>A (n.2163G>A) c.2372G>A (n.2372G>A) n.1576G>A c.3999G>A (n.3999G>A) c.4064G>A (p.Ser1355Asn) c.4040G>A (p.Ser1347Asn)	ClinVar dbSNP gnomAD v4
9	g.136504929T>A	CA375645135	NOTCH1	n.2569A>T c.4762A>T (p.Ser1588Cys) c.4648A>T (p.Ser1550Cys) c.4642A>T (p.Ser1548Cys) c.2359A>T (p.Ser787Cys) c.2162A>T (n.2162A>T) c.2371A>T (n.2371A>T) n.1575A>T c.3998A>T (n.3998A>T) c.4063A>T (p.Ser1355Cys) c.4039A>T (p.Ser1347Cys)	dbSNP
9	g.136504929T>C	CA375645138	NOTCH1	n.2569A>G c.4762A>G (p.Ser1588Gly) c.4648A>G (p.Ser1550Gly) c.4642A>G (p.Ser1548Gly) c.2359A>G (p.Ser787Gly) c.2162A>G (n.2162A>G) c.2371A>G (n.2371A>G) n.1575A>G c.3998A>G (n.3998A>G) c.4063A>G (p.Ser1355Gly) c.4039A>G (p.Ser1347Gly)	dbSNP gnomAD v4
9	g.136504929T>G	CA375645139	NOTCH1	n.2569A>C c.4762A>C (p.Ser1588Arg) c.4648A>C (p.Ser1550Arg) c.4642A>C (p.Ser1548Arg) c.2359A>C (p.Ser787Arg) c.2162A>C (n.2162A>C) c.2371A>C (n.2371A>C) n.1575A>C c.3998A>C (n.3998A>C) c.4063A>C (p.Ser1355Arg) c.4039A>C (p.Ser1347Arg)	dbSNP
9	g.136504930G>A	CA5340520	NOTCH1	n.2568C>T c.4761C>T (p.Asn1587=) c.4647C>T (p.Asn1549=) c.4641C>T (p.Asn1547=) c.2358C>T (p.Asn786=) c.2161C>T (n.2161C>T) c.2370C>T (n.2370C>T) n.1574C>T c.3997C>T (n.3997C>T) c.4062C>T (p.Asn1354=) c.4038C>T (p.Asn1346=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504930G>C	CA375645151	NOTCH1	n.2568C>G c.4761C>G (p.Asn1587Lys) c.4647C>G (p.Asn1549Lys) c.4641C>G (p.Asn1547Lys) c.2358C>G (p.Asn786Lys) c.2161C>G (n.2161C>G) c.2370C>G (n.2370C>G) n.1574C>G c.3997C>G (n.3997C>G) c.4062C>G (p.Asn1354Lys) c.4038C>G (p.Asn1346Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504930G>T	CA375645154	NOTCH1	n.2568C>A c.4761C>A (p.Asn1587Lys) c.4647C>A (p.Asn1549Lys) c.4641C>A (p.Asn1547Lys) c.2358C>A (p.Asn786Lys) c.2161C>A (n.2161C>A) c.2370C>A (n.2370C>A) n.1574C>A c.3997C>A (n.3997C>A) c.4062C>A (p.Asn1354Lys) c.4038C>A (p.Asn1346Lys)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9	g.136504931T>A	CA375645156	NOTCH1	n.2567A>T c.4760A>T (p.Asn1587Ile) c.4646A>T (p.Asn1549Ile) c.4640A>T (p.Asn1547Ile) c.2357A>T (p.Asn786Ile) c.2160A>T (n.2160A>T) c.2369A>T (n.2369A>T) n.1573A>T c.3996A>T (n.3996A>T) c.4061A>T (p.Asn1354Ile) c.4037A>T (p.Asn1346Ile)	dbSNP
9	g.136504931T>C	CA375645158	NOTCH1	n.2567A>G c.4760A>G (p.Asn1587Ser) c.4646A>G (p.Asn1549Ser) c.4640A>G (p.Asn1547Ser) c.2357A>G (p.Asn786Ser) c.2160A>G (n.2160A>G) c.2369A>G (n.2369A>G) n.1573A>G c.3996A>G (n.3996A>G) c.4061A>G (p.Asn1354Ser) c.4037A>G (p.Asn1346Ser)	dbSNP gnomAD v4
9	g.136504931T>G	CA375645159	NOTCH1	n.2567A>C c.4760A>C (p.Asn1587Thr) c.4646A>C (p.Asn1549Thr) c.4640A>C (p.Asn1547Thr) c.2357A>C (p.Asn786Thr) c.2160A>C (n.2160A>C) c.2369A>C (n.2369A>C) n.1573A>C c.3996A>C (n.3996A>C) c.4061A>C (p.Asn1354Thr) c.4037A>C (p.Asn1346Thr)	dbSNP gnomAD v2 gnomAD v4
9	g.136504932T>A	CA375645165	NOTCH1	n.2566A>T c.4759A>T (p.Asn1587Tyr) c.4645A>T (p.Asn1549Tyr) c.4639A>T (p.Asn1547Tyr) c.2356A>T (p.Asn786Tyr) c.2159A>T (n.2159A>T) c.2368A>T (n.2368A>T) n.1572A>T c.3995A>T (n.3995A>T) c.4060A>T (p.Asn1354Tyr) c.4036A>T (p.Asn1346Tyr)	dbSNP
9	g.136504932T>C	CA375645164	NOTCH1	n.2566A>G c.4759A>G (p.Asn1587Asp) c.4645A>G (p.Asn1549Asp) c.4639A>G (p.Asn1547Asp) c.2356A>G (p.Asn786Asp) c.2159A>G (n.2159A>G) c.2368A>G (n.2368A>G) n.1572A>G c.3995A>G (n.3995A>G) c.4060A>G (p.Asn1354Asp) c.4036A>G (p.Asn1346Asp)	gnomAD v4
9	g.136504932T>G	CA375645162	NOTCH1	n.2566A>C c.4759A>C (p.Asn1587His) c.4645A>C (p.Asn1549His) c.4639A>C (p.Asn1547His) c.2356A>C (p.Asn786His) c.2159A>C (n.2159A>C) c.2368A>C (n.2368A>C) n.1572A>C c.3995A>C (n.3995A>C) c.4060A>C (p.Asn1354His) c.4036A>C (p.Asn1346His)	dbSNP
9	g.136504932_136504933insTG	CA1139661349	NOTCH1	n.2565_2566insCA c.4758_4759insCA (p.Asn1587GlnfsTer30) c.4644_4645insCA (p.Asn1549GlnfsTer30) c.4638_4639insCA (p.Asn1547GlnfsTer30) c.2355_2356insCA (p.Asn786GlnfsTer30) c.2158_2159insCA (n.2158_2159insCA) c.2367_2368insCA (n.2367_2368insCA) n.1571_1572insCA c.3994_3995insCA (n.3994_3995insCA) c.4059_4060insCA (p.Asn1354GlnfsTer30) c.4035_4036insCA (p.Asn1346GlnfsTer30)	ClinVar dbSNP
9	g.136504933G>A	CA467832773	NOTCH1	n.2565C>T c.4758C>T (p.Arg1586=) c.4644C>T (p.Arg1548=) c.4638C>T (p.Arg1546=) c.2355C>T (p.Arg785=) c.2158C>T (n.2158C>T) c.2367C>T (n.2367C>T) n.1571C>T c.3994C>T (n.3994C>T) c.4059C>T (p.Arg1353=) c.4035C>T (p.Arg1345=)
9	g.136504933G>C	CA467832775	NOTCH1	n.2565C>G c.4758C>G (p.Arg1586=) c.4644C>G (p.Arg1548=) c.4638C>G (p.Arg1546=) c.2355C>G (p.Arg785=) c.2158C>G (n.2158C>G) c.2367C>G (n.2367C>G) n.1571C>G c.3994C>G (n.3994C>G) c.4059C>G (p.Arg1353=) c.4035C>G (p.Arg1345=)	dbSNP
9	g.136504933G>T	CA467832774	NOTCH1	n.2565C>A c.4758C>A (p.Arg1586=) c.4644C>A (p.Arg1548=) c.4638C>A (p.Arg1546=) c.2355C>A (p.Arg785=) c.2158C>A (n.2158C>A) c.2367C>A (n.2367C>A) n.1571C>A c.3994C>A (n.3994C>A) c.4059C>A (p.Arg1353=) c.4035C>A (p.Arg1345=)	gnomAD v4
9	g.136504934C>A	CA375645167	NOTCH1	n.2564G>T c.4757G>T (p.Arg1586Leu) c.4643G>T (p.Arg1548Leu) c.4637G>T (p.Arg1546Leu) c.2354G>T (p.Arg785Leu) c.2157G>T (n.2157G>T) c.2366G>T (n.2366G>T) n.1570G>T c.3993G>T (n.3993G>T) c.4058G>T (p.Arg1353Leu) c.4034G>T (p.Arg1345Leu)	gnomAD v4
9	g.136504934C>G	CA375645169	NOTCH1	n.2564G>C c.4757G>C (p.Arg1586Pro) c.4643G>C (p.Arg1548Pro) c.4637G>C (p.Arg1546Pro) c.2354G>C (p.Arg785Pro) c.2157G>C (n.2157G>C) c.2366G>C (n.2366G>C) n.1570G>C c.3993G>C (n.3993G>C) c.4058G>C (p.Arg1353Pro) c.4034G>C (p.Arg1345Pro)	dbSNP COSMIC COSMIC
9	g.136504934C>T	CA5340521	NOTCH1	n.2564G>A c.4757G>A (p.Arg1586His) c.4643G>A (p.Arg1548His) c.4637G>A (p.Arg1546His) c.2354G>A (p.Arg785His) c.2157G>A (n.2157G>A) c.2366G>A (n.2366G>A) n.1570G>A c.3993G>A (n.3993G>A) c.4058G>A (p.Arg1353His) c.4034G>A (p.Arg1345His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504935G>A	CA375645172	NOTCH1	n.2563C>T c.4756C>T (p.Arg1586Cys) c.4642C>T (p.Arg1548Cys) c.4636C>T (p.Arg1546Cys) c.2353C>T (p.Arg785Cys) c.2156C>T (n.2156C>T) c.2365C>T (n.2365C>T) n.1569C>T c.3992C>T (n.3992C>T) c.4057C>T (p.Arg1353Cys) c.4033C>T (p.Arg1345Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504935G>C	CA375645173	NOTCH1	n.2563C>G c.4756C>G (p.Arg1586Gly) c.4642C>G (p.Arg1548Gly) c.4636C>G (p.Arg1546Gly) c.2353C>G (p.Arg785Gly) c.2156C>G (n.2156C>G) c.2365C>G (n.2365C>G) n.1569C>G c.3992C>G (n.3992C>G) c.4057C>G (p.Arg1353Gly) c.4033C>G (p.Arg1345Gly)
9	g.136504935G>T	CA375645175	NOTCH1	n.2563C>A c.4756C>A (p.Arg1586Ser) c.4642C>A (p.Arg1548Ser) c.4636C>A (p.Arg1546Ser) c.2353C>A (p.Arg785Ser) c.2156C>A (n.2156C>A) c.2365C>A (n.2365C>A) n.1569C>A c.3992C>A (n.3992C>A) c.4057C>A (p.Arg1353Ser) c.4033C>A (p.Arg1345Ser)	gnomAD v4
9	g.136504938_136504952del	CA645543477	NOTCH1	n.2549_2563del c.4742_4756del (p.Pro1581_Leu1585del) c.4628_4642del (p.Pro1543_Leu1547del) c.4622_4636del (p.Pro1541_Leu1545del) c.2339_2353del (p.Pro780_Leu784del) c.2142_2156del (n.2142_2156del) c.2351_2365del (n.2351_2365del) n.1555_1569del c.3978_3992del (n.3978_3992del) c.4043_4057del (p.Pro1348_Leu1352del) c.4019_4033del (p.Pro1340_Leu1344del)	COSMIC COSMIC
9	g.136504936C>A	CA467832776	NOTCH1	n.2562G>T c.4755G>T (p.Leu1585=) c.4641G>T (p.Leu1547=) c.4635G>T (p.Leu1545=) c.2352G>T (p.Leu784=) c.2155G>T (n.2155G>T) c.2364G>T (n.2364G>T) n.1568G>T c.3991G>T (n.3991G>T) c.4056G>T (p.Leu1352=) c.4032G>T (p.Leu1344=)	dbSNP gnomAD v4
9	g.136504936C>G	CA467832779	NOTCH1	n.2562G>C c.4755G>C (p.Leu1585=) c.4641G>C (p.Leu1547=) c.4635G>C (p.Leu1545=) c.2352G>C (p.Leu784=) c.2155G>C (n.2155G>C) c.2364G>C (n.2364G>C) n.1568G>C c.3991G>C (n.3991G>C) c.4056G>C (p.Leu1352=) c.4032G>C (p.Leu1344=)	dbSNP
9	g.136504936C>T	CA467832778	NOTCH1	n.2562G>A c.4755G>A (p.Leu1585=) c.4641G>A (p.Leu1547=) c.4635G>A (p.Leu1545=) c.2352G>A (p.Leu784=) c.2155G>A (n.2155G>A) c.2364G>A (n.2364G>A) n.1568G>A c.3991G>A (n.3991G>A) c.4056G>A (p.Leu1352=) c.4032G>A (p.Leu1344=)	dbSNP gnomAD v3 gnomAD v4
9	g.136504936_136504937delinsAG	CA645543478	NOTCH1	n.2561_2562delinsCT c.4754_4755delinsCT (p.Leu1585Pro) c.4640_4641delinsCT (p.Leu1547Pro) c.4634_4635delinsCT (p.Leu1545Pro) c.2351_2352delinsCT (p.Leu784Pro) c.2154_2155delinsCT (n.2154_2155delinsCT) c.2363_2364delinsCT (n.2363_2364delinsCT) n.1567_1568delinsCT c.3990_3991delinsCT (n.3990_3991delinsCT) c.4055_4056delinsCT (p.Leu1352Pro) c.4031_4032delinsCT (p.Leu1344Pro)	COSMIC
9	g.136504936_136504937insCTGCTTCCGGGG	CA645543479	NOTCH1	n.2561_2562insCCCCGGAAGCAG c.4754_4755insCCCCGGAAGCAG (p.Leu1585_Arg1586insProGlySerArg) c.4640_4641insCCCCGGAAGCAG (p.Leu1547_Arg1548insProGlySerArg) c.4634_4635insCCCCGGAAGCAG (p.Leu1545_Arg1546insProGlySerArg) c.2351_2352insCCCCGGAAGCAG (p.Leu784_Arg785insProGlySerArg) c.2154_2155insCCCCGGAAGCAG (n.2154_2155insCCCCGGAAGCAG) c.2363_2364insCCCCGGAAGCAG (n.2363_2364insCCCCGGAAGCAG) n.1567_1568insCCCCGGAAGCAG c.3990_3991insCCCCGGAAGCAG (n.3990_3991insCCCCGGAAGCAG) c.4055_4056insCCCCGGAAGCAG (p.Leu1352_Arg1353insProGlySerArg) c.4031_4032insCCCCGGAAGCAG (p.Leu1344_Arg1345insProGlySerArg)	COSMIC
9	g.136504937A>C	CA375645177	NOTCH1	n.2561T>G c.4754T>G (p.Leu1585Arg) c.4640T>G (p.Leu1547Arg) c.4634T>G (p.Leu1545Arg) c.2351T>G (p.Leu784Arg) c.2154T>G (n.2154T>G) c.2363T>G (n.2363T>G) n.1567T>G c.3990T>G (n.3990T>G) c.4055T>G (p.Leu1352Arg) c.4031T>G (p.Leu1344Arg)	dbSNP COSMIC
9	g.136504937A>G	CA375645179	NOTCH1	n.2561T>C c.4754T>C (p.Leu1585Pro) c.4640T>C (p.Leu1547Pro) c.4634T>C (p.Leu1545Pro) c.2351T>C (p.Leu784Pro) c.2154T>C (n.2154T>C) c.2363T>C (n.2363T>C) n.1567T>C c.3990T>C (n.3990T>C) c.4055T>C (p.Leu1352Pro) c.4031T>C (p.Leu1344Pro)	dbSNP gnomAD v4 COSMIC
9	g.136504937A>T	CA375645180	NOTCH1	n.2561T>A c.4754T>A (p.Leu1585Gln) c.4640T>A (p.Leu1547Gln) c.4634T>A (p.Leu1545Gln) c.2351T>A (p.Leu784Gln) c.2154T>A (n.2154T>A) c.2363T>A (n.2363T>A) n.1567T>A c.3990T>A (n.3990T>A) c.4055T>A (p.Leu1352Gln) c.4031T>A (p.Leu1344Gln)	dbSNP COSMIC COSMIC
9	g.136504937_136504938insT	CA645543481	NOTCH1	n.2560_2561insA c.4753_4754insA (p.Leu1585HisfsTer25) c.4639_4640insA (p.Leu1547HisfsTer25) c.4633_4634insA (p.Leu1545HisfsTer25) c.2350_2351insA (p.Leu784HisfsTer25) c.2153_2154insA (n.2153_2154insA) c.2362_2363insA (n.2362_2363insA) n.1566_1567insA c.3989_3990insA (n.3989_3990insA) c.4054_4055insA (p.Leu1352HisfsTer25) c.4030_4031insA (p.Leu1344HisfsTer25)	dbSNP COSMIC COSMIC
9	g.136504938G>A	CA201643984	NOTCH1	n.2560C>T c.4753C>T (p.Leu1585=) c.4639C>T (p.Leu1547=) c.4633C>T (p.Leu1545=) c.2350C>T (p.Leu784=) c.2153C>T (n.2153C>T) c.2362C>T (n.2362C>T) n.1566C>T c.3989C>T (n.3989C>T) c.4054C>T (p.Leu1352=) c.4030C>T (p.Leu1344=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504938G>C	CA375645181	NOTCH1	n.2560C>G c.4753C>G (p.Leu1585Val) c.4639C>G (p.Leu1547Val) c.4633C>G (p.Leu1545Val) c.2350C>G (p.Leu784Val) c.2153C>G (n.2153C>G) c.2362C>G (n.2362C>G) n.1566C>G c.3989C>G (n.3989C>G) c.4054C>G (p.Leu1352Val) c.4030C>G (p.Leu1344Val)
9	g.136504938G>T	CA375645183	NOTCH1	n.2560C>A c.4753C>A (p.Leu1585Met) c.4639C>A (p.Leu1547Met) c.4633C>A (p.Leu1545Met) c.2350C>A (p.Leu784Met) c.2153C>A (n.2153C>A) c.2362C>A (n.2362C>A) n.1566C>A c.3989C>A (n.3989C>A) c.4054C>A (p.Leu1352Met) c.4030C>A (p.Leu1344Met)
9	g.136504938dup	CA645543480	NOTCH1	n.2560dup c.4753dup (p.Leu1585ProfsTer25) c.4639dup (p.Leu1547ProfsTer25) c.4633dup (p.Leu1545ProfsTer25) c.2350dup (p.Leu784ProfsTer25) c.2153dup (n.2153dup) c.2362dup (n.2362dup) n.1566dup c.3989dup (n.3989dup) c.4054dup (p.Leu1352ProfsTer25) c.4030dup (p.Leu1344ProfsTer25)	dbSNP COSMIC COSMIC
9	g.136504939C>A	CA375645185	NOTCH1	n.2559G>T c.4752G>T (p.Gln1584His) c.4638G>T (p.Gln1546His) c.4632G>T (p.Gln1544His) c.2349G>T (p.Gln783His) c.2152G>T (n.2152G>T) c.2361G>T (n.2361G>T) n.1565G>T c.3988G>T (n.3988G>T) c.4053G>T (p.Gln1351His) c.4029G>T (p.Gln1343His)	gnomAD v4
9	g.136504939C>G	CA375645187	NOTCH1	n.2559G>C c.4752G>C (p.Gln1584His) c.4638G>C (p.Gln1546His) c.4632G>C (p.Gln1544His) c.2349G>C (p.Gln783His) c.2152G>C (n.2152G>C) c.2361G>C (n.2361G>C) n.1565G>C c.3988G>C (n.3988G>C) c.4053G>C (p.Gln1351His) c.4029G>C (p.Gln1343His)	dbSNP
9	g.136504939C>T	CA467832782	NOTCH1	n.2559G>A c.4752G>A (p.Gln1584=) c.4638G>A (p.Gln1546=) c.4632G>A (p.Gln1544=) c.2349G>A (p.Gln783=) c.2152G>A (n.2152G>A) c.2361G>A (n.2361G>A) n.1565G>A c.3988G>A (n.3988G>A) c.4053G>A (p.Gln1351=) c.4029G>A (p.Gln1343=)	dbSNP
9	g.136504939_136504940insGCTCCGGCGGCATCAGCTCCACGG	CA645543482	NOTCH1	n.2558_2559insCCGTGGAGCTGATGCCGCCGGAGC c.4751_4752insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1584delinsHisArgGlyAlaAspAlaAlaGlyAla) c.4637_4638insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1546delinsHisArgGlyAlaAspAlaAlaGlyAla) c.4631_4632insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1544delinsHisArgGlyAlaAspAlaAlaGlyAla) c.2348_2349insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln783delinsHisArgGlyAlaAspAlaAlaGlyAla) c.2151_2152insCCGTGGAGCTGATGCCGCCGGAGC (n.2151_2152insCCGTGGAGCTGATGCCGCCGGAGC) c.2360_2361insCCGTGGAGCTGATGCCGCCGGAGC (n.2360_2361insCCGTGGAGCTGATGCCGCCGGAGC) n.1564_1565insCCGTGGAGCTGATGCCGCCGGAGC c.3987_3988insCCGTGGAGCTGATGCCGCCGGAGC (n.3987_3988insCCGTGGAGCTGATGCCGCCGGAGC) c.4052_4053insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1351delinsHisArgGlyAlaAspAlaAlaGlyAla) c.4028_4029insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1343delinsHisArgGlyAlaAspAlaAlaGlyAla)	COSMIC
9	g.136504940T>A	CA375645191	NOTCH1	n.2558A>T c.4751A>T (p.Gln1584Leu) c.4637A>T (p.Gln1546Leu) c.4631A>T (p.Gln1544Leu) c.2348A>T (p.Gln783Leu) c.2151A>T (n.2151A>T) c.2360A>T (n.2360A>T) n.1564A>T c.3987A>T (n.3987A>T) c.4052A>T (p.Gln1351Leu) c.4028A>T (p.Gln1343Leu)	dbSNP
9	g.136504940T>C	CA375645192	NOTCH1	n.2558A>G c.4751A>G (p.Gln1584Arg) c.4637A>G (p.Gln1546Arg) c.4631A>G (p.Gln1544Arg) c.2348A>G (p.Gln783Arg) c.2151A>G (n.2151A>G) c.2360A>G (n.2360A>G) n.1564A>G c.3987A>G (n.3987A>G) c.4052A>G (p.Gln1351Arg) c.4028A>G (p.Gln1343Arg)	dbSNP
9	g.136504940T>G	CA375645189	NOTCH1	n.2558A>C c.4751A>C (p.Gln1584Pro) c.4637A>C (p.Gln1546Pro) c.4631A>C (p.Gln1544Pro) c.2348A>C (p.Gln783Pro) c.2151A>C (n.2151A>C) c.2360A>C (n.2360A>C) n.1564A>C c.3987A>C (n.3987A>C) c.4052A>C (p.Gln1351Pro) c.4028A>C (p.Gln1343Pro)
9	g.136504941G>A	CA375645194	NOTCH1	n.2557C>T c.4750C>T (p.Gln1584Ter) c.4636C>T (p.Gln1546Ter) c.4630C>T (p.Gln1544Ter) c.2347C>T (p.Gln783Ter) c.2150C>T (n.2150C>T) c.2359C>T (n.2359C>T) n.1563C>T c.3986C>T (n.3986C>T) c.4051C>T (p.Gln1351Ter) c.4027C>T (p.Gln1343Ter)	dbSNP COSMIC COSMIC
9	g.136504941G>C	CA375645196	NOTCH1	n.2557C>G c.4750C>G (p.Gln1584Glu) c.4636C>G (p.Gln1546Glu) c.4630C>G (p.Gln1544Glu) c.2347C>G (p.Gln783Glu) c.2150C>G (n.2150C>G) c.2359C>G (n.2359C>G) n.1563C>G c.3986C>G (n.3986C>G) c.4051C>G (p.Gln1351Glu) c.4027C>G (p.Gln1343Glu)	dbSNP
9	g.136504941G>T	CA375645202	NOTCH1	n.2557C>A c.4750C>A (p.Gln1584Lys) c.4636C>A (p.Gln1546Lys) c.4630C>A (p.Gln1544Lys) c.2347C>A (p.Gln783Lys) c.2150C>A (n.2150C>A) c.2359C>A (n.2359C>A) n.1563C>A c.3986C>A (n.3986C>A) c.4051C>A (p.Gln1351Lys) c.4027C>A (p.Gln1343Lys)	dbSNP gnomAD v4
9	g.136504957_136504958insTCCACGGGCTCCGGCGGCATCAGC	CA645543483	NOTCH1	n.2557_2558insCCGTGGAGCTGATGCCGCCGGAGC c.4750_4751insCCGTGGAGCTGATGCCGCCGGAGC (p.Glu1583_Gln1584insProValGluLeuMetProProGlu) c.4636_4637insCCGTGGAGCTGATGCCGCCGGAGC (p.Glu1545_Gln1546insProValGluLeuMetProProGlu) c.4630_4631insCCGTGGAGCTGATGCCGCCGGAGC (p.Glu1543_Gln1544insProValGluLeuMetProProGlu) c.2347_2348insCCGTGGAGCTGATGCCGCCGGAGC (p.Glu782_Gln783insProValGluLeuMetProProGlu) c.2150_2151insCCGTGGAGCTGATGCCGCCGGAGC (n.2150_2151insCCGTGGAGCTGATGCCGCCGGAGC) c.2359_2360insCCGTGGAGCTGATGCCGCCGGAGC (n.2359_2360insCCGTGGAGCTGATGCCGCCGGAGC) n.1563_1564insCCGTGGAGCTGATGCCGCCGGAGC c.3986_3987insCCGTGGAGCTGATGCCGCCGGAGC (n.3986_3987insCCGTGGAGCTGATGCCGCCGGAGC) c.4051_4052insCCGTGGAGCTGATGCCGCCGGAGC (p.Glu1350_Gln1351insProValGluLeuMetProProGlu) c.4027_4028insCCGTGGAGCTGATGCCGCCGGAGC (p.Glu1342_Gln1343insProValGluLeuMetProProGlu)	COSMIC
9	g.136504942C>A	CA375645204	NOTCH1	n.2556G>T c.4749G>T (p.Glu1583Asp) c.4635G>T (p.Glu1545Asp) c.4629G>T (p.Glu1543Asp) c.2346G>T (p.Glu782Asp) c.2149G>T (n.2149G>T) c.2358G>T (n.2358G>T) n.1562G>T c.3985G>T (n.3985G>T) c.4050G>T (p.Glu1350Asp) c.4026G>T (p.Glu1342Asp)	gnomAD v4
9	g.136504942C>G	CA375645205	NOTCH1	n.2556G>C c.4749G>C (p.Glu1583Asp) c.4635G>C (p.Glu1545Asp) c.4629G>C (p.Glu1543Asp) c.2346G>C (p.Glu782Asp) c.2149G>C (n.2149G>C) c.2358G>C (n.2358G>C) n.1562G>C c.3985G>C (n.3985G>C) c.4050G>C (p.Glu1350Asp) c.4026G>C (p.Glu1342Asp)
9	g.136504942C>T	CA467832785	NOTCH1	n.2556G>A c.4749G>A (p.Glu1583=) c.4635G>A (p.Glu1545=) c.4629G>A (p.Glu1543=) c.2346G>A (p.Glu782=) c.2149G>A (n.2149G>A) c.2358G>A (n.2358G>A) n.1562G>A c.3985G>A (n.3985G>A) c.4050G>A (p.Glu1350=) c.4026G>A (p.Glu1342=)	ClinVar dbSNP gnomAD v2 gnomAD v4
9	g.136504942_136504943insCCTTAGGGTGGGTAC	CA645543484	NOTCH1	n.2556_2557insTACCCACCCTAAGGG c.4749_4750insTACCCACCCTAAGGG c.4635_4636insTACCCACCCTAAGGG c.4629_4630insTACCCACCCTAAGGG c.2346_2347insTACCCACCCTAAGGG c.2149_2150insTACCCACCCTAAGGG (n.2149_2150insTACCCACCCTAAGGG) c.2358_2359insTACCCACCCTAAGGG (n.2358_2359insTACCCACCCTAAGGG) n.1562_1563insTACCCACCCTAAGGG c.3985_3986insTACCCACCCTAAGGG (n.3985_3986insTACCCACCCTAAGGG) c.4050_4051insTACCCACCCTAAGGG c.4026_4027insTACCCACCCTAAGGG	COSMIC
9	g.136504943T>A	CA375645206	NOTCH1	n.2555A>T c.4748A>T (p.Glu1583Val) c.4634A>T (p.Glu1545Val) c.4628A>T (p.Glu1543Val) c.2345A>T (p.Glu782Val) c.2148A>T (n.2148A>T) c.2357A>T (n.2357A>T) n.1561A>T c.3984A>T (n.3984A>T) c.4049A>T (p.Glu1350Val) c.4025A>T (p.Glu1342Val)	dbSNP
9	g.136504943T>C	CA375645208	NOTCH1	n.2555A>G c.4748A>G (p.Glu1583Gly) c.4634A>G (p.Glu1545Gly) c.4628A>G (p.Glu1543Gly) c.2345A>G (p.Glu782Gly) c.2148A>G (n.2148A>G) c.2357A>G (n.2357A>G) n.1561A>G c.3984A>G (n.3984A>G) c.4049A>G (p.Glu1350Gly) c.4025A>G (p.Glu1342Gly)	dbSNP gnomAD v4
9	g.136504943T>G	CA375645210	NOTCH1	n.2555A>C c.4748A>C (p.Glu1583Ala) c.4634A>C (p.Glu1545Ala) c.4628A>C (p.Glu1543Ala) c.2345A>C (p.Glu782Ala) c.2148A>C (n.2148A>C) c.2357A>C (n.2357A>C) n.1561A>C c.3984A>C (n.3984A>C) c.4049A>C (p.Glu1350Ala) c.4025A>C (p.Glu1342Ala)	dbSNP
9	g.136504943_136504944insGGG	CA645543485	NOTCH1	n.2554_2555insCCC c.4747_4748insCCC (p.Glu1583delinsAlaGln) c.4633_4634insCCC (p.Glu1545delinsAlaGln) c.4627_4628insCCC (p.Glu1543delinsAlaGln) c.2344_2345insCCC (p.Glu782delinsAlaGln) c.2147_2148insCCC (n.2147_2148insCCC) c.2356_2357insCCC (n.2356_2357insCCC) n.1560_1561insCCC c.3983_3984insCCC (n.3983_3984insCCC) c.4048_4049insCCC (p.Glu1350delinsAlaGln) c.4024_4025insCCC (p.Glu1342delinsAlaGln)	COSMIC
9	g.136504944C>A	CA375645212	NOTCH1	n.2554G>T c.4747G>T (p.Glu1583Ter) c.4633G>T (p.Glu1545Ter) c.4627G>T (p.Glu1543Ter) c.2344G>T (p.Glu782Ter) c.2147G>T (n.2147G>T) c.2356G>T (n.2356G>T) n.1560G>T c.3983G>T (n.3983G>T) c.4048G>T (p.Glu1350Ter) c.4024G>T (p.Glu1342Ter)
9	g.136504944C>G	CA375645213	NOTCH1	n.2554G>C c.4747G>C (p.Glu1583Gln) c.4633G>C (p.Glu1545Gln) c.4627G>C (p.Glu1543Gln) c.2344G>C (p.Glu782Gln) c.2147G>C (n.2147G>C) c.2356G>C (n.2356G>C) n.1560G>C c.3983G>C (n.3983G>C) c.4048G>C (p.Glu1350Gln) c.4024G>C (p.Glu1342Gln)
9	g.136504944C>T	CA375645215	NOTCH1	n.2554G>A c.4747G>A (p.Glu1583Lys) c.4633G>A (p.Glu1545Lys) c.4627G>A (p.Glu1543Lys) c.2344G>A (p.Glu782Lys) c.2147G>A (n.2147G>A) c.2356G>A (n.2356G>A) n.1560G>A c.3983G>A (n.3983G>A) c.4048G>A (p.Glu1350Lys) c.4024G>A (p.Glu1342Lys)
9	g.136504945C>A	CA467832881	NOTCH1	n.2553G>T c.4746G>T (p.Pro1582=) c.4632G>T (p.Pro1544=) c.4626G>T (p.Pro1542=) c.2343G>T (p.Pro781=) c.2146G>T (n.2146G>T) c.2355G>T (n.2355G>T) n.1559G>T c.3982G>T (n.3982G>T) c.4047G>T (p.Pro1349=) c.4023G>T (p.Pro1341=)	gnomAD v4
9	g.136504945C>G	CA467832882	NOTCH1	n.2553G>C c.4746G>C (p.Pro1582=) c.4632G>C (p.Pro1544=) c.4626G>C (p.Pro1542=) c.2343G>C (p.Pro781=) c.2146G>C (n.2146G>C) c.2355G>C (n.2355G>C) n.1559G>C c.3982G>C (n.3982G>C) c.4047G>C (p.Pro1349=) c.4023G>C (p.Pro1341=)	dbSNP
9	g.136504945C>T	CA10587667	NOTCH1	n.2553G>A c.4746G>A (p.Pro1582=) c.4632G>A (p.Pro1544=) c.4626G>A (p.Pro1542=) c.2343G>A (p.Pro781=) c.2146G>A (n.2146G>A) c.2355G>A (n.2355G>A) n.1559G>A c.3982G>A (n.3982G>A) c.4047G>A (p.Pro1349=) c.4023G>A (p.Pro1341=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.136504949_136504951del	CA645543486	NOTCH1	n.2551_2553del c.4744_4746del (p.Pro1582del) c.4630_4632del (p.Pro1544del) c.4624_4626del (p.Pro1542del) c.2341_2343del (p.Pro781del) c.2144_2146del (n.2144_2146del) c.2353_2355del (n.2353_2355del) n.1557_1559del c.3980_3982del (n.3980_3982del) c.4045_4047del (p.Pro1349del) c.4021_4023del (p.Pro1341del)	COSMIC COSMIC COSMIC
9	g.136504946_136504951del	CA645543487	NOTCH1	n.2548_2553del c.4741_4746del (p.Pro1581_Pro1582del) c.4627_4632del (p.Pro1543_Pro1544del) c.4621_4626del (p.Pro1541_Pro1542del) c.2338_2343del (p.Pro780_Pro781del) c.2141_2146del (n.2141_2146del) c.2350_2355del (n.2350_2355del) n.1554_1559del c.3977_3982del (n.3977_3982del) c.4042_4047del (p.Pro1348_Pro1349del) c.4018_4023del (p.Pro1340_Pro1341del)	COSMIC
9	g.136504946G>A	CA5340522	NOTCH1	n.2552C>T c.4745C>T (p.Pro1582Leu) c.4631C>T (p.Pro1544Leu) c.4625C>T (p.Pro1542Leu) c.2342C>T (p.Pro781Leu) c.2145C>T (n.2145C>T) c.2354C>T (n.2354C>T) n.1558C>T c.3981C>T (n.3981C>T) c.4046C>T (p.Pro1349Leu) c.4022C>T (p.Pro1341Leu)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9	g.136504946G>C	CA375645221	NOTCH1	n.2552C>G c.4745C>G (p.Pro1582Arg) c.4631C>G (p.Pro1544Arg) c.4625C>G (p.Pro1542Arg) c.2342C>G (p.Pro781Arg) c.2145C>G (n.2145C>G) c.2354C>G (n.2354C>G) n.1558C>G c.3981C>G (n.3981C>G) c.4046C>G (p.Pro1349Arg) c.4022C>G (p.Pro1341Arg)	dbSNP
9	g.136504946G>T	CA375645219	NOTCH1	n.2552C>A c.4745C>A (p.Pro1582Gln) c.4631C>A (p.Pro1544Gln) c.4625C>A (p.Pro1542Gln) c.2342C>A (p.Pro781Gln) c.2145C>A (n.2145C>A) c.2354C>A (n.2354C>A) n.1558C>A c.3981C>A (n.3981C>A) c.4046C>A (p.Pro1349Gln) c.4022C>A (p.Pro1341Gln)	dbSNP
9	g.136504946delinsTTC	CA645543488	NOTCH1	n.2552delinsGAA c.4745delinsGAA (p.Pro1582ArgfsTer?) c.4631delinsGAA (p.Pro1544ArgfsTer?) c.4625delinsGAA (p.Pro1542ArgfsTer?) c.2342delinsGAA (p.Pro781ArgfsTer?) c.2145delinsGAA (n.2145delinsGAA) c.2354delinsGAA (n.2354delinsGAA) n.1558delinsGAA c.3981delinsGAA (n.3981delinsGAA) c.4046delinsGAA (p.Pro1349ArgfsTer?) c.4022delinsGAA (p.Pro1341ArgfsTer?)	COSMIC
9	g.136504946_136504947insTGTGCGGGG	CA645543489	NOTCH1	n.2552_2553insCCCGCACAC c.4745_4746insCCCGCACAC (p.Pro1582_Glu1583insProHisThr) c.4631_4632insCCCGCACAC (p.Pro1544_Glu1545insProHisThr) c.4625_4626insCCCGCACAC (p.Pro1542_Glu1543insProHisThr) c.2342_2343insCCCGCACAC (p.Pro781_Glu782insProHisThr) c.2145_2146insCCCGCACAC (n.2145_2146insCCCGCACAC) c.2354_2355insCCCGCACAC (n.2354_2355insCCCGCACAC) n.1558_1559insCCCGCACAC c.3981_3982insCCCGCACAC (n.3981_3982insCCCGCACAC) c.4046_4047insCCCGCACAC (p.Pro1349_Glu1350insProHisThr) c.4022_4023insCCCGCACAC (p.Pro1341_Glu1342insProHisThr)	COSMIC
9	g.136504947_136504948insAGG	CA645543490	NOTCH1	n.2552_2553insTCC c.4745_4746insTCC (p.Pro1582_Glu1583insPro) c.4631_4632insTCC (p.Pro1544_Glu1545insPro) c.4625_4626insTCC (p.Pro1542_Glu1543insPro) c.2342_2343insTCC (p.Pro781_Glu782insPro) c.2145_2146insTCC (n.2145_2146insTCC) c.2354_2355insTCC (n.2354_2355insTCC) n.1558_1559insTCC c.3981_3982insTCC (n.3981_3982insTCC) c.4046_4047insTCC (p.Pro1349_Glu1350insPro) c.4022_4023insTCC (p.Pro1341_Glu1342insPro)	COSMIC
9	g.136504947_136504948insGGG	CA645543491	NOTCH1	n.2552_2553insCCC c.4745_4746insCCC (p.Pro1582_Glu1583insPro) c.4631_4632insCCC (p.Pro1544_Glu1545insPro) c.4625_4626insCCC (p.Pro1542_Glu1543insPro) c.2342_2343insCCC (p.Pro781_Glu782insPro) c.2145_2146insCCC (n.2145_2146insCCC) c.2354_2355insCCC (n.2354_2355insCCC) n.1558_1559insCCC c.3981_3982insCCC (n.3981_3982insCCC) c.4046_4047insCCC (p.Pro1349_Glu1350insPro) c.4022_4023insCCC (p.Pro1341_Glu1342insPro)	COSMIC COSMIC
9	g.136504947G>A	CA375645223	NOTCH1	n.2551C>T c.4744C>T (p.Pro1582Ser) c.4630C>T (p.Pro1544Ser) c.4624C>T (p.Pro1542Ser) c.2341C>T (p.Pro781Ser) c.2144C>T (n.2144C>T) c.2353C>T (n.2353C>T) n.1557C>T c.3980C>T (n.3980C>T) c.4045C>T (p.Pro1349Ser) c.4021C>T (p.Pro1341Ser)	dbSNP
9	g.136504947G>C	CA375645225	NOTCH1	n.2551C>G c.4744C>G (p.Pro1582Ala) c.4630C>G (p.Pro1544Ala) c.4624C>G (p.Pro1542Ala) c.2341C>G (p.Pro781Ala) c.2144C>G (n.2144C>G) c.2353C>G (n.2353C>G) n.1557C>G c.3980C>G (n.3980C>G) c.4045C>G (p.Pro1349Ala) c.4021C>G (p.Pro1341Ala)	dbSNP
9	g.136504947G>T	CA375645227	NOTCH1	n.2551C>A c.4744C>A (p.Pro1582Thr) c.4630C>A (p.Pro1544Thr) c.4624C>A (p.Pro1542Thr) c.2341C>A (p.Pro781Thr) c.2144C>A (n.2144C>A) c.2353C>A (n.2353C>A) n.1557C>A c.3980C>A (n.3980C>A) c.4045C>A (p.Pro1349Thr) c.4021C>A (p.Pro1341Thr)	dbSNP
9	g.136504948C>A	CA467832886	NOTCH1	n.2550G>T c.4743G>T (p.Pro1581=) c.4629G>T (p.Pro1543=) c.4623G>T (p.Pro1541=) c.2340G>T (p.Pro780=) c.2143G>T (n.2143G>T) c.2352G>T (n.2352G>T) n.1556G>T c.3979G>T (n.3979G>T) c.4044G>T (p.Pro1348=) c.4020G>T (p.Pro1340=)	dbSNP gnomAD v4
9	g.136504948C>G	CA467832889	NOTCH1	n.2550G>C c.4743G>C (p.Pro1581=) c.4629G>C (p.Pro1543=) c.4623G>C (p.Pro1541=) c.2340G>C (p.Pro780=) c.2143G>C (n.2143G>C) c.2352G>C (n.2352G>C) n.1556G>C c.3979G>C (n.3979G>C) c.4044G>C (p.Pro1348=) c.4020G>C (p.Pro1340=)	dbSNP
9	g.136504948C>T	CA5340523	NOTCH1	n.2550G>A c.4743G>A (p.Pro1581=) c.4629G>A (p.Pro1543=) c.4623G>A (p.Pro1541=) c.2340G>A (p.Pro780=) c.2143G>A (n.2143G>A) c.2352G>A (n.2352G>A) n.1556G>A c.3979G>A (n.3979G>A) c.4044G>A (p.Pro1348=) c.4020G>A (p.Pro1340=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9	g.136504949G>A	CA5340524	NOTCH1	n.2549C>T c.4742C>T (p.Pro1581Leu) c.4628C>T (p.Pro1543Leu) c.4622C>T (p.Pro1541Leu) c.2339C>T (p.Pro780Leu) c.2142C>T (n.2142C>T) c.2351C>T (n.2351C>T) n.1555C>T c.3978C>T (n.3978C>T) c.4043C>T (p.Pro1348Leu) c.4019C>T (p.Pro1340Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9	g.136504949G>C	CA375645230	NOTCH1	n.2549C>G c.4742C>G (p.Pro1581Arg) c.4628C>G (p.Pro1543Arg) c.4622C>G (p.Pro1541Arg) c.2339C>G (p.Pro780Arg) c.2142C>G (n.2142C>G) c.2351C>G (n.2351C>G) n.1555C>G c.3978C>G (n.3978C>G) c.4043C>G (p.Pro1348Arg) c.4019C>G (p.Pro1340Arg)	dbSNP
9	g.136504949G>T	CA375645232	NOTCH1	n.2549C>A c.4742C>A (p.Pro1581Gln) c.4628C>A (p.Pro1543Gln) c.4622C>A (p.Pro1541Gln) c.2339C>A (p.Pro780Gln) c.2142C>A (n.2142C>A) c.2351C>A (n.2351C>A) n.1555C>A c.3978C>A (n.3978C>A) c.4043C>A (p.Pro1348Gln) c.4019C>A (p.Pro1340Gln)	dbSNP gnomAD v4 COSMIC COSMIC
9	g.136504950G>A	CA5340525	NOTCH1	n.2548C>T c.4741C>T (p.Pro1581Ser) c.4627C>T (p.Pro1543Ser) c.4621C>T (p.Pro1541Ser) c.2338C>T (p.Pro780Ser) c.2141C>T (n.2141C>T) c.2350C>T (n.2350C>T) n.1554C>T c.3977C>T (n.3977C>T) c.4042C>T (p.Pro1348Ser) c.4018C>T (p.Pro1340Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9	g.136504950G>C	CA375645234	NOTCH1	n.2548C>G c.4741C>G (p.Pro1581Ala) c.4627C>G (p.Pro1543Ala) c.4621C>G (p.Pro1541Ala) c.2338C>G (p.Pro780Ala) c.2141C>G (n.2141C>G) c.2350C>G (n.2350C>G) n.1554C>G c.3977C>G (n.3977C>G) c.4042C>G (p.Pro1348Ala) c.4018C>G (p.Pro1340Ala)	dbSNP
9	g.136504950G>T	CA375645236	NOTCH1	n.2548C>A c.4741C>A (p.Pro1581Thr) c.4627C>A (p.Pro1543Thr) c.4621C>A (p.Pro1541Thr) c.2338C>A (p.Pro780Thr) c.2141C>A (n.2141C>A) c.2350C>A (n.2350C>A) n.1554C>A c.3977C>A (n.3977C>A) c.4042C>A (p.Pro1348Thr) c.4018C>A (p.Pro1340Thr)	dbSNP gnomAD v4
9	g.136504951C>A	CA375645239	NOTCH1	n.2547G>T c.4740G>T (p.Met1580Ile) c.4626G>T (p.Met1542Ile) c.4620G>T (p.Met1540Ile) c.2337G>T (p.Met779Ile) c.2140G>T (n.2140G>T) c.2349G>T (n.2349G>T) n.1553G>T c.3976G>T (n.3976G>T) c.4041G>T (p.Met1347Ile) c.4017G>T (p.Met1339Ile)	dbSNP gnomAD v4
9	g.136504951C>G	CA375645241	NOTCH1	n.2547G>C c.4740G>C (p.Met1580Ile) c.4626G>C (p.Met1542Ile) c.4620G>C (p.Met1540Ile) c.2337G>C (p.Met779Ile) c.2140G>C (n.2140G>C) c.2349G>C (n.2349G>C) n.1553G>C c.3976G>C (n.3976G>C) c.4041G>C (p.Met1347Ile) c.4017G>C (p.Met1339Ile)	dbSNP
9	g.136504951C>T	CA201643996	NOTCH1	n.2547G>A c.4740G>A (p.Met1580Ile) c.4626G>A (p.Met1542Ile) c.4620G>A (p.Met1540Ile) c.2337G>A (p.Met779Ile) c.2140G>A (n.2140G>A) c.2349G>A (n.2349G>A) n.1553G>A c.3976G>A (n.3976G>A) c.4041G>A (p.Met1347Ile) c.4017G>A (p.Met1339Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9	g.136504951_136504952delinsGGGGACGAACCTGGATGGGG	CA645543493	NOTCH1	n.2546_2547delinsCCCCATCCAGGTTCGTCCCC c.4739_4740delinsCCCCATCCAGGTTCGTCCCC (p.Met1580delinsThrProSerArgPheValPro) c.4625_4626delinsCCCCATCCAGGTTCGTCCCC (p.Met1542delinsThrProSerArgPheValPro) c.4619_4620delinsCCCCATCCAGGTTCGTCCCC (p.Met1540delinsThrProSerArgPheValPro) c.2336_2337delinsCCCCATCCAGGTTCGTCCCC (p.Met779delinsThrProSerArgPheValPro) c.2139_2140delinsCCCCATCCAGGTTCGTCCCC (n.2139_2140delinsCCCCATCCAGGTTCGTCCCC) c.2348_2349delinsCCCCATCCAGGTTCGTCCCC (n.2348_2349delinsCCCCATCCAGGTTCGTCCCC) n.1552_1553delinsCCCCATCCAGGTTCGTCCCC c.3975_3976delinsCCCCATCCAGGTTCGTCCCC (n.3975_3976delinsCCCCATCCAGGTTCGTCCCC) c.4040_4041delinsCCCCATCCAGGTTCGTCCCC (p.Met1347delinsThrProSerArgPheValPro) c.4016_4017delinsCCCCATCCAGGTTCGTCCCC (p.Met1339delinsThrProSerArgPheValPro)	COSMIC
9	g.136504953_136504955del	CA645543492	NOTCH1	n.2545_2547del c.4738_4740del (p.Met1580del) c.4624_4626del (p.Met1542del) c.4618_4620del (p.Met1540del) c.2335_2337del (p.Met779del) c.2138_2140del (n.2138_2140del) c.2347_2349del (n.2347_2349del) n.1551_1553del c.3974_3976del (n.3974_3976del) c.4039_4041del (p.Met1347del) c.4015_4017del (p.Met1339del)	COSMIC
9	g.136504952A>C	CA375645243	NOTCH1	n.2546T>G c.4739T>G (p.Met1580Arg) c.4625T>G (p.Met1542Arg) c.4619T>G (p.Met1540Arg) c.2336T>G (p.Met779Arg) c.2139T>G (n.2139T>G) c.2348T>G (n.2348T>G) n.1552T>G c.3975T>G (n.3975T>G) c.4040T>G (p.Met1347Arg) c.4016T>G (p.Met1339Arg)	dbSNP
9	g.136504952A>G	CA375645246	NOTCH1	n.2546T>C c.4739T>C (p.Met1580Thr) c.4625T>C (p.Met1542Thr) c.4619T>C (p.Met1540Thr) c.2336T>C (p.Met779Thr) c.2139T>C (n.2139T>C) c.2348T>C (n.2348T>C) n.1552T>C c.3975T>C (n.3975T>C) c.4040T>C (p.Met1347Thr) c.4016T>C (p.Met1339Thr)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
9	g.136504952A>T	CA375645248	NOTCH1	n.2546T>A c.4739T>A (p.Met1580Lys) c.4625T>A (p.Met1542Lys) c.4619T>A (p.Met1540Lys) c.2336T>A (p.Met779Lys) c.2139T>A (n.2139T>A) c.2348T>A (n.2348T>A) n.1552T>A c.3975T>A (n.3975T>A) c.4040T>A (p.Met1347Lys) c.4016T>A (p.Met1339Lys)	dbSNP
9	g.136504952dup	CA348408	NOTCH1	n.2546dup c.4739dup (p.Met1580IlefsTer30) c.4625dup (p.Met1542IlefsTer30) c.4619dup (p.Met1540IlefsTer30) c.2336dup (p.Met779IlefsTer30) c.2139dup (n.2139dup) c.2348dup (n.2348dup) n.1552dup c.3975dup (n.3975dup) c.4040dup (p.Met1347IlefsTer30) c.4016dup (p.Met1339IlefsTer30)	ClinVar dbSNP
9	g.136504953T>A	CA375645251	NOTCH1	n.2545A>T c.4738A>T (p.Met1580Leu) c.4624A>T (p.Met1542Leu) c.4618A>T (p.Met1540Leu) c.2335A>T (p.Met779Leu) c.2138A>T (n.2138A>T) c.2347A>T (n.2347A>T) n.1551A>T c.3974A>T (n.3974A>T) c.4039A>T (p.Met1347Leu) c.4015A>T (p.Met1339Leu)	dbSNP
9	g.136504953T>C	CA375645253	NOTCH1	n.2545A>G c.4738A>G (p.Met1580Val) c.4624A>G (p.Met1542Val) c.4618A>G (p.Met1540Val) c.2335A>G (p.Met779Val) c.2138A>G (n.2138A>G) c.2347A>G (n.2347A>G) n.1551A>G c.3974A>G (n.3974A>G) c.4039A>G (p.Met1347Val) c.4015A>G (p.Met1339Val)	dbSNP
9	g.136504953T>G	CA375645255	NOTCH1	n.2545A>C c.4738A>C (p.Met1580Leu) c.4624A>C (p.Met1542Leu) c.4618A>C (p.Met1540Leu) c.2335A>C (p.Met779Leu) c.2138A>C (n.2138A>C) c.2347A>C (n.2347A>C) n.1551A>C c.3974A>C (n.3974A>C) c.4039A>C (p.Met1347Leu) c.4015A>C (p.Met1339Leu)	dbSNP COSMIC COSMIC
9	g.136504954C>A	CA467832901	NOTCH1	n.2544G>T c.4737G>T (p.Leu1579=) c.4623G>T (p.Leu1541=) c.4617G>T (p.Leu1539=) c.2334G>T (p.Leu778=) c.2137G>T (n.2137G>T) c.2346G>T (n.2346G>T) n.1550G>T c.3973G>T (n.3973G>T) c.4038G>T (p.Leu1346=) c.4014G>T (p.Leu1338=)	dbSNP gnomAD v4
9	g.136504954C>G	CA467832902	NOTCH1	n.2544G>C c.4737G>C (p.Leu1579=) c.4623G>C (p.Leu1541=) c.4617G>C (p.Leu1539=) c.2334G>C (p.Leu778=) c.2137G>C (n.2137G>C) c.2346G>C (n.2346G>C) n.1550G>C c.3973G>C (n.3973G>C) c.4038G>C (p.Leu1346=) c.4014G>C (p.Leu1338=)	dbSNP
9	g.136504954C>T	CA467832903	NOTCH1	n.2544G>A c.4737G>A (p.Leu1579=) c.4623G>A (p.Leu1541=) c.4617G>A (p.Leu1539=) c.2334G>A (p.Leu778=) c.2137G>A (n.2137G>A) c.2346G>A (n.2346G>A) n.1550G>A c.3973G>A (n.3973G>A) c.4038G>A (p.Leu1346=) c.4014G>A (p.Leu1338=)	dbSNP gnomAD v4
9	g.136504956_136504961dup	CA2497273338	NOTCH1	n.2539_2544dup c.4732_4737dup (p.Leu1579_Met1580insValLeu) c.4618_4623dup (p.Leu1541_Met1542insValLeu) c.4612_4617dup (p.Leu1539_Met1540insValLeu) c.2329_2334dup (p.Leu778_Met779insValLeu) c.2132_2137dup (n.2132_2137dup) c.2341_2346dup (n.2341_2346dup) n.1545_1550dup c.3968_3973dup (n.3968_3973dup) c.4033_4038dup (p.Leu1346_Met1347insValLeu) c.4009_4014dup (p.Leu1338_Met1339insValLeu)	dbSNP
9	g.136504955A>C	CA375645258	NOTCH1	n.2543T>G c.4736T>G (p.Leu1579Arg) c.4622T>G (p.Leu1541Arg) c.4616T>G (p.Leu1539Arg) c.2333T>G (p.Leu778Arg) c.2136T>G (n.2136T>G) c.2345T>G (n.2345T>G) n.1549T>G c.3972T>G (n.3972T>G) c.4037T>G (p.Leu1346Arg) c.4013T>G (p.Leu1338Arg)	dbSNP
9	g.136504955A>G	CA375645260	NOTCH1	n.2543T>C c.4736T>C (p.Leu1579Pro) c.4622T>C (p.Leu1541Pro) c.4616T>C (p.Leu1539Pro) c.2333T>C (p.Leu778Pro) c.2136T>C (n.2136T>C) c.2345T>C (n.2345T>C) n.1549T>C c.3972T>C (n.3972T>C) c.4037T>C (p.Leu1346Pro) c.4013T>C (p.Leu1338Pro)	dbSNP gnomAD v4
9	g.136504955A>T	CA375645264	NOTCH1	n.2543T>A c.4736T>A (p.Leu1579Gln) c.4622T>A (p.Leu1541Gln) c.4616T>A (p.Leu1539Gln) c.2333T>A (p.Leu778Gln) c.2136T>A (n.2136T>A) c.2345T>A (n.2345T>A) n.1549T>A c.3972T>A (n.3972T>A) c.4037T>A (p.Leu1346Gln) c.4013T>A (p.Leu1338Gln)	dbSNP
9	g.136504955_136504956insT	CA2497273339	NOTCH1	n.2542_2543insA c.4735_4736insA (p.Leu1579HisfsTer?) c.4621_4622insA (p.Leu1541HisfsTer?) c.4615_4616insA (p.Leu1539HisfsTer?) c.2332_2333insA (p.Leu778HisfsTer?) c.2135_2136insA (n.2135_2136insA) c.2344_2345insA (n.2344_2345insA) n.1548_1549insA c.3971_3972insA (n.3971_3972insA) c.4036_4037insA (p.Leu1346HisfsTer?) c.4012_4013insA (p.Leu1338HisfsTer?)	dbSNP
9	g.136504956G>A	CA467832904	NOTCH1	n.2542C>T c.4735C>T (p.Leu1579=) c.4621C>T (p.Leu1541=) c.4615C>T (p.Leu1539=) c.2332C>T (p.Leu778=) c.2135C>T (n.2135C>T) c.2344C>T (n.2344C>T) n.1548C>T c.3971C>T (n.3971C>T) c.4036C>T (p.Leu1346=) c.4012C>T (p.Leu1338=)	gnomAD v4
9	g.136504956G>C	CA375645266	NOTCH1	n.2542C>G c.4735C>G (p.Leu1579Val) c.4621C>G (p.Leu1541Val) c.4615C>G (p.Leu1539Val) c.2332C>G (p.Leu778Val) c.2135C>G (n.2135C>G) c.2344C>G (n.2344C>G) n.1548C>G c.3971C>G (n.3971C>G) c.4036C>G (p.Leu1346Val) c.4012C>G (p.Leu1338Val)	dbSNP gnomAD v4
9	g.136504956G>T	CA375645268	NOTCH1	n.2542C>A c.4735C>A (p.Leu1579Met) c.4621C>A (p.Leu1541Met) c.4615C>A (p.Leu1539Met) c.2332C>A (p.Leu778Met) c.2135C>A (n.2135C>A) c.2344C>A (n.2344C>A) n.1548C>A c.3971C>A (n.3971C>A) c.4036C>A (p.Leu1346Met) c.4012C>A (p.Leu1338Met)	dbSNP gnomAD v4
9	g.136504957C>A	CA467832906	NOTCH1	n.2541G>T c.4734G>T (p.Val1578=) c.4620G>T (p.Val1540=) c.4614G>T (p.Val1538=) c.2331G>T (p.Val777=) c.2134G>T (n.2134G>T) c.2343G>T (n.2343G>T) n.1547G>T c.3970G>T (n.3970G>T) c.4035G>T (p.Val1345=) c.4011G>T (p.Val1337=)	gnomAD v4
9	g.136504957C>G	CA467832905	NOTCH1	n.2541G>C c.4734G>C (p.Val1578=) c.4620G>C (p.Val1540=) c.4614G>C (p.Val1538=) c.2331G>C (p.Val777=) c.2134G>C (n.2134G>C) c.2343G>C (n.2343G>C) n.1547G>C c.3970G>C (n.3970G>C) c.4035G>C (p.Val1345=) c.4011G>C (p.Val1337=)
9	g.136504957C>T	CA467832907	NOTCH1	n.2541G>A c.4734G>A (p.Val1578=) c.4620G>A (p.Val1540=) c.4614G>A (p.Val1538=) c.2331G>A (p.Val777=) c.2134G>A (n.2134G>A) c.2343G>A (n.2343G>A) n.1547G>A c.3970G>A (n.3970G>A) c.4035G>A (p.Val1345=) c.4011G>A (p.Val1337=)	gnomAD v4
9	g.136504957_136504960del	CA2497273340	NOTCH1	n.2538_2541del c.4731_4734del (p.Val1578Ter) c.4617_4620del (p.Val1540Ter) c.4611_4614del (p.Val1538Ter) c.2328_2331del (p.Val777Ter) c.2131_2134del (n.2131_2134del) c.2340_2343del (n.2340_2343del) n.1544_1547del c.3967_3970del (n.3967_3970del) c.4032_4035del (p.Val1345Ter) c.4008_4011del (p.Val1337Ter)	dbSNP
9	g.136504968_136504970dup	CA2786273028	NOTCH1	n.2539_2541dup c.4732_4734dup (p.Val1578_Leu1579insVal) c.4618_4620dup (p.Val1540_Leu1541insVal) c.4612_4614dup (p.Val1538_Leu1539insVal) c.2329_2331dup (p.Val777_Leu778insVal) c.2132_2134dup (n.2132_2134dup) c.2341_2343dup (n.2341_2343dup) n.1545_1547dup c.3968_3970dup (n.3968_3970dup) c.4033_4035dup (p.Val1345_Leu1346insVal) c.4009_4011dup (p.Val1337_Leu1338insVal)
9	g.136504968_136504970del	CA5340526	NOTCH1	n.2539_2541del c.4732_4734del (p.Val1578del) c.4618_4620del (p.Val1540del) c.4612_4614del (p.Val1538del) c.2329_2331del (p.Val777del) c.2132_2134del (n.2132_2134del) c.2341_2343del (n.2341_2343del) n.1545_1547del c.3968_3970del (n.3968_3970del) c.4033_4035del (p.Val1345del) c.4009_4011del (p.Val1337del)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
9	g.136504965_136504970del	CA645543494	NOTCH1	n.2536_2541del c.4729_4734del (p.Val1577_Val1578del) c.4615_4620del (p.Val1539_Val1540del) c.4609_4614del (p.Val1537_Val1538del) c.2326_2331del (p.Val776_Val777del) c.2129_2134del (n.2129_2134del) c.2338_2343del (n.2338_2343del) n.1542_1547del c.3965_3970del (n.3965_3970del) c.4030_4035del (p.Val1344_Val1345del) c.4006_4011del (p.Val1336_Val1337del)	dbSNP COSMIC COSMIC
9	g.136504958A>C	CA375645275	NOTCH1	n.2540T>G c.4733T>G (p.Val1578Gly) c.4619T>G (p.Val1540Gly) c.4613T>G (p.Val1538Gly) c.2330T>G (p.Val777Gly) c.2133T>G (n.2133T>G) c.2342T>G (n.2342T>G) n.1546T>G c.3969T>G (n.3969T>G) c.4034T>G (p.Val1345Gly) c.4010T>G (p.Val1337Gly)	dbSNP COSMIC COSMIC
9	g.136504958A>G	CA375645273	NOTCH1	n.2540T>C c.4733T>C (p.Val1578Ala) c.4619T>C (p.Val1540Ala) c.4613T>C (p.Val1538Ala) c.2330T>C (p.Val777Ala) c.2133T>C (n.2133T>C) c.2342T>C (n.2342T>C) n.1546T>C c.3969T>C (n.3969T>C) c.4034T>C (p.Val1345Ala) c.4010T>C (p.Val1337Ala)
9	g.136504958A>T	CA375645271	NOTCH1	n.2540T>A c.4733T>A (p.Val1578Glu) c.4619T>A (p.Val1540Glu) c.4613T>A (p.Val1538Glu) c.2330T>A (p.Val777Glu) c.2133T>A (n.2133T>A) c.2342T>A (n.2342T>A) n.1546T>A c.3969T>A (n.3969T>A) c.4034T>A (p.Val1345Glu) c.4010T>A (p.Val1337Glu)	dbSNP COSMIC
9	g.136504959C>A	CA375645277	NOTCH1	n.2539G>T c.4732G>T (p.Val1578Leu) c.4618G>T (p.Val1540Leu) c.4612G>T (p.Val1538Leu) c.2329G>T (p.Val777Leu) c.2132G>T (n.2132G>T) c.2341G>T (n.2341G>T) n.1545G>T c.3968G>T (n.3968G>T) c.4033G>T (p.Val1345Leu) c.4009G>T (p.Val1337Leu)	dbSNP
9	g.136504959C>G	CA375645278	NOTCH1	n.2539G>C c.4732G>C (p.Val1578Leu) c.4618G>C (p.Val1540Leu) c.4612G>C (p.Val1538Leu) c.2329G>C (p.Val777Leu) c.2132G>C (n.2132G>C) c.2341G>C (n.2341G>C) n.1545G>C c.3968G>C (n.3968G>C) c.4033G>C (p.Val1345Leu) c.4009G>C (p.Val1337Leu)
9	g.136504959C>T	CA375645280	NOTCH1	n.2539G>A c.4732G>A (p.Val1578Met) c.4618G>A (p.Val1540Met) c.4612G>A (p.Val1538Met) c.2329G>A (p.Val777Met) c.2132G>A (n.2132G>A) c.2341G>A (n.2341G>A) n.1545G>A c.3968G>A (n.3968G>A) c.4033G>A (p.Val1345Met) c.4009G>A (p.Val1337Met)	dbSNP gnomAD v4
9	g.136504960_136504961insGCC	CA645543495	NOTCH1	n.2539_2540insCGG c.4732_4733insCGG (p.Val1577_Val1578insAla) c.4618_4619insCGG (p.Val1539_Val1540insAla) c.4612_4613insCGG (p.Val1537_Val1538insAla) c.2329_2330insCGG (p.Val776_Val777insAla) c.2132_2133insCGG (n.2132_2133insCGG) c.2341_2342insCGG (n.2341_2342insCGG) n.1545_1546insCGG c.3968_3969insCGG (n.3968_3969insCGG) c.4033_4034insCGG (p.Val1344_Val1345insAla) c.4009_4010insCGG (p.Val1336_Val1337insAla)	COSMIC
9	g.136504960C>A	CA467832911	NOTCH1	n.2538G>T c.4731G>T (p.Val1577=) c.4617G>T (p.Val1539=) c.4611G>T (p.Val1537=) c.2328G>T (p.Val776=) c.2131G>T (n.2131G>T) c.2340G>T (n.2340G>T) n.1544G>T c.3967G>T (n.3967G>T) c.4032G>T (p.Val1344=) c.4008G>T (p.Val1336=)
9	g.136504960C>G	CA467832909	NOTCH1	n.2538G>C c.4731G>C (p.Val1577=) c.4617G>C (p.Val1539=) c.4611G>C (p.Val1537=) c.2328G>C (p.Val776=) c.2131G>C (n.2131G>C) c.2340G>C (n.2340G>C) n.1544G>C c.3967G>C (n.3967G>C) c.4032G>C (p.Val1344=) c.4008G>C (p.Val1336=)	dbSNP
9	g.136504960C>T	CA467832910	NOTCH1	n.2538G>A c.4731G>A (p.Val1577=) c.4617G>A (p.Val1539=) c.4611G>A (p.Val1537=) c.2328G>A (p.Val776=) c.2131G>A (n.2131G>A) c.2340G>A (n.2340G>A) n.1544G>A c.3967G>A (n.3967G>A) c.4032G>A (p.Val1344=) c.4008G>A (p.Val1336=)	dbSNP
9	g.136504961A>C	CA375645282	NOTCH1	n.2537T>G c.4730T>G (p.Val1577Gly) c.4616T>G (p.Val1539Gly) c.4610T>G (p.Val1537Gly) c.2327T>G (p.Val776Gly) c.2130T>G (n.2130T>G) c.2339T>G (n.2339T>G) n.1543T>G c.3966T>G (n.3966T>G) c.4031T>G (p.Val1344Gly) c.4007T>G (p.Val1336Gly)
9	g.136504961A>G	CA375645284	NOTCH1	n.2537T>C c.4730T>C (p.Val1577Ala) c.4616T>C (p.Val1539Ala) c.4610T>C (p.Val1537Ala) c.2327T>C (p.Val776Ala) c.2130T>C (n.2130T>C) c.2339T>C (n.2339T>C) n.1543T>C c.3966T>C (n.3966T>C) c.4031T>C (p.Val1344Ala) c.4007T>C (p.Val1336Ala)
9	g.136504961A>T	CA375645285	NOTCH1	n.2537T>A c.4730T>A (p.Val1577Glu) c.4616T>A (p.Val1539Glu) c.4610T>A (p.Val1537Glu) c.2327T>A (p.Val776Glu) c.2130T>A (n.2130T>A) c.2339T>A (n.2339T>A) n.1543T>A c.3966T>A (n.3966T>A) c.4031T>A (p.Val1344Glu) c.4007T>A (p.Val1336Glu)	dbSNP COSMIC
9	g.136504962C>A	CA375645288	NOTCH1	n.2536G>T c.4729G>T (p.Val1577Leu) c.4615G>T (p.Val1539Leu) c.4609G>T (p.Val1537Leu) c.2326G>T (p.Val776Leu) c.2129G>T (n.2129G>T) c.2338G>T (n.2338G>T) n.1542G>T c.3965G>T (n.3965G>T) c.4030G>T (p.Val1344Leu) c.4006G>T (p.Val1336Leu)
9	g.136504962C>G	CA375645289	NOTCH1	n.2536G>C c.4729G>C (p.Val1577Leu) c.4615G>C (p.Val1539Leu) c.4609G>C (p.Val1537Leu) c.2326G>C (p.Val776Leu) c.2129G>C (n.2129G>C) c.2338G>C (n.2338G>C) n.1542G>C c.3965G>C (n.3965G>C) c.4030G>C (p.Val1344Leu) c.4006G>C (p.Val1336Leu)	gnomAD v4
9	g.136504962C>T	CA375645290	NOTCH1	n.2536G>A c.4729G>A (p.Val1577Met) c.4615G>A (p.Val1539Met) c.4609G>A (p.Val1537Met) c.2326G>A (p.Val776Met) c.2129G>A (n.2129G>A) c.2338G>A (n.2338G>A) n.1542G>A c.3965G>A (n.3965G>A) c.4030G>A (p.Val1344Met) c.4006G>A (p.Val1336Met)	gnomAD v4 COSMIC
9	g.136504962_136504963insTGG	CA2497273341	NOTCH1	n.2535_2536insCCA c.4728_4729insCCA (p.Val1576_Val1577insPro) c.4614_4615insCCA (p.Val1538_Val1539insPro) c.4608_4609insCCA (p.Val1536_Val1537insPro) c.2325_2326insCCA (p.Val775_Val776insPro) c.2128_2129insCCA (n.2128_2129insCCA) c.2337_2338insCCA (n.2337_2338insCCA) n.1541_1542insCCA c.3964_3965insCCA (n.3964_3965insCCA) c.4029_4030insCCA (p.Val1343_Val1344insPro) c.4005_4006insCCA (p.Val1335_Val1336insPro)	dbSNP
9	g.136504963C>A	CA467832916	NOTCH1	n.2535G>T c.4728G>T (p.Val1576=) c.4614G>T (p.Val1538=) c.4608G>T (p.Val1536=) c.2325G>T (p.Val775=) c.2128G>T (n.2128G>T) c.2337G>T (n.2337G>T) n.1541G>T c.3964G>T (n.3964G>T) c.4029G>T (p.Val1343=) c.4005G>T (p.Val1335=)	dbSNP gnomAD v4
9	g.136504963C>G	CA467832917	NOTCH1	n.2535G>C c.4728G>C (p.Val1576=) c.4614G>C (p.Val1538=) c.4608G>C (p.Val1536=) c.2325G>C (p.Val775=) c.2128G>C (n.2128G>C) c.2337G>C (n.2337G>C) n.1541G>C c.3964G>C (n.3964G>C) c.4029G>C (p.Val1343=) c.4005G>C (p.Val1335=)
9	g.136504963C>T	CA467832915	NOTCH1	n.2535G>A c.4728G>A (p.Val1576=) c.4614G>A (p.Val1538=) c.4608G>A (p.Val1536=) c.2325G>A (p.Val775=) c.2128G>A (n.2128G>A) c.2337G>A (n.2337G>A) n.1541G>A c.3964G>A (n.3964G>A) c.4029G>A (p.Val1343=) c.4005G>A (p.Val1335=)	ClinVar dbSNP
9	g.136504964A>C	CA375645291	NOTCH1	n.2534T>G c.4727T>G (p.Val1576Gly) c.4613T>G (p.Val1538Gly) c.4607T>G (p.Val1536Gly) c.2324T>G (p.Val775Gly) c.2127T>G (n.2127T>G) c.2336T>G (n.2336T>G) n.1540T>G c.3963T>G (n.3963T>G) c.4028T>G (p.Val1343Gly) c.4004T>G (p.Val1335Gly)
9	g.136504964A>G	CA375645293	NOTCH1	n.2534T>C c.4727T>C (p.Val1576Ala) c.4613T>C (p.Val1538Ala) c.4607T>C (p.Val1536Ala) c.2324T>C (p.Val775Ala) c.2127T>C (n.2127T>C) c.2336T>C (n.2336T>C) n.1540T>C c.3963T>C (n.3963T>C) c.4028T>C (p.Val1343Ala) c.4004T>C (p.Val1335Ala)	COSMIC
9	g.136504964A>T	CA375645295	NOTCH1	n.2534T>A c.4727T>A (p.Val1576Glu) c.4613T>A (p.Val1538Glu) c.4607T>A (p.Val1536Glu) c.2324T>A (p.Val775Glu) c.2127T>A (n.2127T>A) c.2336T>A (n.2336T>A) n.1540T>A c.3963T>A (n.3963T>A) c.4028T>A (p.Val1343Glu) c.4004T>A (p.Val1335Glu)	COSMIC COSMIC
9	g.136504965C>A	CA375645304	NOTCH1	n.2533G>T c.4726G>T (p.Val1576Leu) c.4612G>T (p.Val1538Leu) c.4606G>T (p.Val1536Leu) c.2323G>T (p.Val775Leu) c.2126G>T (n.2126G>T) c.2335G>T (n.2335G>T) n.1539G>T c.3962G>T (n.3962G>T) c.4027G>T (p.Val1343Leu) c.4003G>T (p.Val1335Leu)	gnomAD v4
9	g.136504965C>G	CA375645300	NOTCH1	n.2533G>C c.4726G>C (p.Val1576Leu) c.4612G>C (p.Val1538Leu) c.4606G>C (p.Val1536Leu) c.2323G>C (p.Val775Leu) c.2126G>C (n.2126G>C) c.2335G>C (n.2335G>C) n.1539G>C c.3962G>C (n.3962G>C) c.4027G>C (p.Val1343Leu) c.4003G>C (p.Val1335Leu)	dbSNP
9	g.136504965C>T	CA375645298	NOTCH1	n.2533G>A c.4726G>A (p.Val1576Met) c.4612G>A (p.Val1538Met) c.4606G>A (p.Val1536Met) c.2323G>A (p.Val775Met) c.2126G>A (n.2126G>A) c.2335G>A (n.2335G>A) n.1539G>A c.3962G>A (n.3962G>A) c.4027G>A (p.Val1343Met) c.4003G>A (p.Val1335Met)	gnomAD v4
9	g.136504966C>A	CA467832922	NOTCH1	n.2532G>T c.4725G>T (p.Val1575=) c.4611G>T (p.Val1537=) c.4605G>T (p.Val1535=) c.2322G>T (p.Val774=) c.2125G>T (n.2125G>T) c.2334G>T (n.2334G>T) n.1538G>T c.3961G>T (n.3961G>T) c.4026G>T (p.Val1342=) c.4002G>T (p.Val1334=)
9	g.136504966C>G	CA467832923	NOTCH1	n.2532G>C c.4725G>C (p.Val1575=) c.4611G>C (p.Val1537=) c.4605G>C (p.Val1535=) c.2322G>C (p.Val774=) c.2125G>C (n.2125G>C) c.2334G>C (n.2334G>C) n.1538G>C c.3961G>C (n.3961G>C) c.4026G>C (p.Val1342=) c.4002G>C (p.Val1334=)	dbSNP
9	g.136504966C>T	CA467832924	NOTCH1	n.2532G>A c.4725G>A (p.Val1575=) c.4611G>A (p.Val1537=) c.4605G>A (p.Val1535=) c.2322G>A (p.Val774=) c.2125G>A (n.2125G>A) c.2334G>A (n.2334G>A) n.1538G>A c.3961G>A (n.3961G>A) c.4026G>A (p.Val1342=) c.4002G>A (p.Val1334=)	dbSNP gnomAD v4

Number of alleles fetched