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.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.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.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.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 |
9 | g.136504967A>C | CA375645306 | NOTCH1 | n.2531T>G c.4724T>G (p.Val1575Gly) c.4610T>G (p.Val1537Gly) c.4604T>G (p.Val1535Gly) c.2321T>G (p.Val774Gly) c.*2124T>G (n.*2124T>G) c.*2333T>G (n.*2333T>G) n.1537T>G c.*3960T>G (n.*3960T>G) c.4025T>G (p.Val1342Gly) c.4001T>G (p.Val1334Gly) | dbSNP |
9 | g.136504967A>G | CA375645308 | NOTCH1 | n.2531T>C c.4724T>C (p.Val1575Ala) c.4610T>C (p.Val1537Ala) c.4604T>C (p.Val1535Ala) c.2321T>C (p.Val774Ala) c.*2124T>C (n.*2124T>C) c.*2333T>C (n.*2333T>C) n.1537T>C c.*3960T>C (n.*3960T>C) c.4025T>C (p.Val1342Ala) c.4001T>C (p.Val1334Ala) | |
9 | g.136504967A>T | CA375645310 | NOTCH1 | n.2531T>A c.4724T>A (p.Val1575Glu) c.4610T>A (p.Val1537Glu) c.4604T>A (p.Val1535Glu) c.2321T>A (p.Val774Glu) c.*2124T>A (n.*2124T>A) c.*2333T>A (n.*2333T>A) n.1537T>A c.*3960T>A (n.*3960T>A) c.4025T>A (p.Val1342Glu) c.4001T>A (p.Val1334Glu) | dbSNP |
9 | g.136504968C>A | CA375645313 | NOTCH1 | n.2530G>T c.4723G>T (p.Val1575Leu) c.4609G>T (p.Val1537Leu) c.4603G>T (p.Val1535Leu) c.2320G>T (p.Val774Leu) c.*2123G>T (n.*2123G>T) c.*2332G>T (n.*2332G>T) n.1536G>T c.*3959G>T (n.*3959G>T) c.4024G>T (p.Val1342Leu) c.4000G>T (p.Val1334Leu) | |
9 | g.136504968C>G | CA375645316 | NOTCH1 | n.2530G>C c.4723G>C (p.Val1575Leu) c.4609G>C (p.Val1537Leu) c.4603G>C (p.Val1535Leu) c.2320G>C (p.Val774Leu) c.*2123G>C (n.*2123G>C) c.*2332G>C (n.*2332G>C) n.1536G>C c.*3959G>C (n.*3959G>C) c.4024G>C (p.Val1342Leu) c.4000G>C (p.Val1334Leu) | gnomAD v4 |
9 | g.136504968C>T | CA375645319 | NOTCH1 | n.2530G>A c.4723G>A (p.Val1575Met) c.4609G>A (p.Val1537Met) c.4603G>A (p.Val1535Met) c.2320G>A (p.Val774Met) c.*2123G>A (n.*2123G>A) c.*2332G>A (n.*2332G>A) n.1536G>A c.*3959G>A (n.*3959G>A) c.4024G>A (p.Val1342Met) c.4000G>A (p.Val1334Met) | |
9 | g.136504968_136504969insTC | CA2721108930 | NOTCH1 | n.2530_2531insAG c.4723_4724insAG (p.Val1575GlufsTer6) c.4609_4610insAG (p.Val1537GlufsTer6) c.4603_4604insAG (p.Val1535GlufsTer6) c.2320_2321insAG (p.Val774GlufsTer6) c.*2123_*2124insAG (n.*2123_*2124insAG) c.*2332_*2333insAG (n.*2332_*2333insAG) n.1536_1537insAG c.*3959_*3960insAG (n.*3959_*3960insAG) c.4024_4025insAG (p.Val1342GlufsTer6) c.4000_4001insAG (p.Val1334GlufsTer6) | dbSNP |
9 | g.136504969C>A | CA467832926 | NOTCH1 | n.2529G>T c.4722G>T (p.Leu1574=) c.4608G>T (p.Leu1536=) c.4602G>T (p.Leu1534=) c.2319G>T (p.Leu773=) c.*2122G>T (n.*2122G>T) c.*2331G>T (n.*2331G>T) n.1535G>T c.*3958G>T (n.*3958G>T) c.4023G>T (p.Leu1341=) c.3999G>T (p.Leu1333=) | gnomAD v4 |
9 | g.136504969C>G | CA467832927 | NOTCH1 | n.2529G>C c.4722G>C (p.Leu1574=) c.4608G>C (p.Leu1536=) c.4602G>C (p.Leu1534=) c.2319G>C (p.Leu773=) c.*2122G>C (n.*2122G>C) c.*2331G>C (n.*2331G>C) n.1535G>C c.*3958G>C (n.*3958G>C) c.4023G>C (p.Leu1341=) c.3999G>C (p.Leu1333=) | dbSNP |
9 | g.136504969C>T | CA467832928 | NOTCH1 | n.2529G>A c.4722G>A (p.Leu1574=) c.4608G>A (p.Leu1536=) c.4602G>A (p.Leu1534=) c.2319G>A (p.Leu773=) c.*2122G>A (n.*2122G>A) c.*2331G>A (n.*2331G>A) n.1535G>A c.*3958G>A (n.*3958G>A) c.4023G>A (p.Leu1341=) c.3999G>A (p.Leu1333=) | dbSNP |
9 | g.136504969_136504970delinsAG | CA645543497 | NOTCH1 | n.2528_2529delinsCT c.4721_4722delinsCT (p.Leu1574Pro) c.4607_4608delinsCT (p.Leu1536Pro) c.4601_4602delinsCT (p.Leu1534Pro) c.2318_2319delinsCT (p.Leu773Pro) c.*2121_*2122delinsCT (n.*2121_*2122delinsCT) c.*2330_*2331delinsCT (n.*2330_*2331delinsCT) n.1534_1535delinsCT c.*3957_*3958delinsCT (n.*3957_*3958delinsCT) c.4022_4023delinsCT (p.Leu1341Pro) c.3998_3999delinsCT (p.Leu1333Pro) | COSMIC |
9 | g.136504970_136504972del | CA645543496 | NOTCH1 | n.2527_2529del c.4720_4722del (p.Leu1574del) c.4606_4608del (p.Leu1536del) c.4600_4602del (p.Leu1534del) c.2317_2319del (p.Leu773del) c.*2120_*2122del (n.*2120_*2122del) c.*2329_*2331del (n.*2329_*2331del) n.1533_1535del c.*3956_*3958del (n.*3956_*3958del) c.4021_4023del (p.Leu1341del) c.3997_3999del (p.Leu1333del) | dbSNP COSMIC |
9 | g.136504970A>C | CA375645323 | NOTCH1 | n.2528T>G c.4721T>G (p.Leu1574Arg) c.4607T>G (p.Leu1536Arg) c.4601T>G (p.Leu1534Arg) c.2318T>G (p.Leu773Arg) c.*2121T>G (n.*2121T>G) c.*2330T>G (n.*2330T>G) n.1534T>G c.*3957T>G (n.*3957T>G) c.4022T>G (p.Leu1341Arg) c.3998T>G (p.Leu1333Arg) | dbSNP |
9 | g.136504970A>G | CA375645324 | NOTCH1 | n.2528T>C c.4721T>C (p.Leu1574Pro) c.4607T>C (p.Leu1536Pro) c.4601T>C (p.Leu1534Pro) c.2318T>C (p.Leu773Pro) c.*2121T>C (n.*2121T>C) c.*2330T>C (n.*2330T>C) n.1534T>C c.*3957T>C (n.*3957T>C) c.4022T>C (p.Leu1341Pro) c.3998T>C (p.Leu1333Pro) | dbSNP COSMIC |
9 | g.136504970A>T | CA375645325 | NOTCH1 | n.2528T>A c.4721T>A (p.Leu1574Gln) c.4607T>A (p.Leu1536Gln) c.4601T>A (p.Leu1534Gln) c.2318T>A (p.Leu773Gln) c.*2121T>A (n.*2121T>A) c.*2330T>A (n.*2330T>A) n.1534T>A c.*3957T>A (n.*3957T>A) c.4022T>A (p.Leu1341Gln) c.3998T>A (p.Leu1333Gln) | dbSNP COSMIC |
9 | g.136504971G>A | CA467832931 | NOTCH1 | n.2527C>T c.4720C>T (p.Leu1574=) c.4606C>T (p.Leu1536=) c.4600C>T (p.Leu1534=) c.2317C>T (p.Leu773=) c.*2120C>T (n.*2120C>T) c.*2329C>T (n.*2329C>T) n.1533C>T c.*3956C>T (n.*3956C>T) c.4021C>T (p.Leu1341=) c.3997C>T (p.Leu1333=) | ClinVar dbSNP gnomAD v4 |
9 | g.136504971G>C | CA375645327 | NOTCH1 | n.2527C>G c.4720C>G (p.Leu1574Val) c.4606C>G (p.Leu1536Val) c.4600C>G (p.Leu1534Val) c.2317C>G (p.Leu773Val) c.*2120C>G (n.*2120C>G) c.*2329C>G (n.*2329C>G) n.1533C>G c.*3956C>G (n.*3956C>G) c.4021C>G (p.Leu1341Val) c.3997C>G (p.Leu1333Val) | dbSNP |
9 | g.136504971G>T | CA375645329 | NOTCH1 | n.2527C>A c.4720C>A (p.Leu1574Met) c.4606C>A (p.Leu1536Met) c.4600C>A (p.Leu1534Met) c.2317C>A (p.Leu773Met) c.*2120C>A (n.*2120C>A) c.*2329C>A (n.*2329C>A) n.1533C>A c.*3956C>A (n.*3956C>A) c.4021C>A (p.Leu1341Met) c.3997C>A (p.Leu1333Met) | dbSNP gnomAD v4 |
9 | g.136504971dup | CA645543498 | NOTCH1 | n.2527dup c.4720dup (p.Leu1574ProfsTer?) c.4606dup (p.Leu1536ProfsTer?) c.4600dup (p.Leu1534ProfsTer?) c.2317dup (p.Leu773ProfsTer?) c.*2120dup (n.*2120dup) c.*2329dup (n.*2329dup) n.1533dup c.*3956dup (n.*3956dup) c.4021dup (p.Leu1341ProfsTer?) c.3997dup (p.Leu1333ProfsTer?) | dbSNP COSMIC COSMIC |
9 | g.136504972C>A | CA467832932 | NOTCH1 | n.2526G>T c.4719G>T (p.Thr1573=) c.4605G>T (p.Thr1535=) c.4599G>T (p.Thr1533=) c.2316G>T (p.Thr772=) c.*2119G>T (n.*2119G>T) c.*2328G>T (n.*2328G>T) n.1532G>T c.*3955G>T (n.*3955G>T) c.4020G>T (p.Thr1340=) c.3996G>T (p.Thr1332=) | dbSNP gnomAD v4 |
9 | g.136504972C>G | CA467832934 | NOTCH1 | n.2526G>C c.4719G>C (p.Thr1573=) c.4605G>C (p.Thr1535=) c.4599G>C (p.Thr1533=) c.2316G>C (p.Thr772=) c.*2119G>C (n.*2119G>C) c.*2328G>C (n.*2328G>C) n.1532G>C c.*3955G>C (n.*3955G>C) c.4020G>C (p.Thr1340=) c.3996G>C (p.Thr1332=) | dbSNP gnomAD v4 |
9 | g.136504972C>T | CA5340527 | NOTCH1 | n.2526G>A c.4719G>A (p.Thr1573=) c.4605G>A (p.Thr1535=) c.4599G>A (p.Thr1533=) c.2316G>A (p.Thr772=) c.*2119G>A (n.*2119G>A) c.*2328G>A (n.*2328G>A) n.1532G>A c.*3955G>A (n.*3955G>A) c.4020G>A (p.Thr1340=) c.3996G>A (p.Thr1332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136504973G>A | CA16605473 | NOTCH1 | n.2525C>T c.4718C>T (p.Thr1573Met) c.4604C>T (p.Thr1535Met) c.4598C>T (p.Thr1533Met) c.2315C>T (p.Thr772Met) c.*2118C>T (n.*2118C>T) c.*2327C>T (n.*2327C>T) n.1531C>T c.*3954C>T (n.*3954C>T) c.4019C>T (p.Thr1340Met) c.3995C>T (p.Thr1332Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.136504973G>C | CA375645345 | NOTCH1 | n.2525C>G c.4718C>G (p.Thr1573Arg) c.4604C>G (p.Thr1535Arg) c.4598C>G (p.Thr1533Arg) c.2315C>G (p.Thr772Arg) c.*2118C>G (n.*2118C>G) c.*2327C>G (n.*2327C>G) n.1531C>G c.*3954C>G (n.*3954C>G) c.4019C>G (p.Thr1340Arg) c.3995C>G (p.Thr1332Arg) | dbSNP |
9 | g.136504973G>T | CA375645337 | NOTCH1 | n.2525C>A c.4718C>A (p.Thr1573Lys) c.4604C>A (p.Thr1535Lys) c.4598C>A (p.Thr1533Lys) c.2315C>A (p.Thr772Lys) c.*2118C>A (n.*2118C>A) c.*2327C>A (n.*2327C>A) n.1531C>A c.*3954C>A (n.*3954C>A) c.4019C>A (p.Thr1340Lys) c.3995C>A (p.Thr1332Lys) | |
9 | g.136504974T>A | CA375645348 | NOTCH1 | n.2524A>T c.4717A>T (p.Thr1573Ser) c.4603A>T (p.Thr1535Ser) c.4597A>T (p.Thr1533Ser) c.2314A>T (p.Thr772Ser) c.*2117A>T (n.*2117A>T) c.*2326A>T (n.*2326A>T) n.1530A>T c.*3953A>T (n.*3953A>T) c.4018A>T (p.Thr1340Ser) c.3994A>T (p.Thr1332Ser) | dbSNP |
9 | g.136504974T>C | CA5340528 | NOTCH1 | n.2524A>G c.4717A>G (p.Thr1573Ala) c.4603A>G (p.Thr1535Ala) c.4597A>G (p.Thr1533Ala) c.2314A>G (p.Thr772Ala) c.*2117A>G (n.*2117A>G) c.*2326A>G (n.*2326A>G) n.1530A>G c.*3953A>G (n.*3953A>G) c.4018A>G (p.Thr1340Ala) c.3994A>G (p.Thr1332Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.136504974T>G | CA375645352 | NOTCH1 | n.2524A>C c.4717A>C (p.Thr1573Pro) c.4603A>C (p.Thr1535Pro) c.4597A>C (p.Thr1533Pro) c.2314A>C (p.Thr772Pro) c.*2117A>C (n.*2117A>C) c.*2326A>C (n.*2326A>C) n.1530A>C c.*3953A>C (n.*3953A>C) c.4018A>C (p.Thr1340Pro) c.3994A>C (p.Thr1332Pro) | dbSNP |
9 | g.136504974_136504976delinsCAGGAGGAA | CA645543499 | NOTCH1 | n.2522_2524delinsTTCCTCCTG c.4715_4717delinsTTCCTCCTG (p.Gly1572_Thr1573delinsValProProAla) c.4601_4603delinsTTCCTCCTG (p.Gly1534_Thr1535delinsValProProAla) c.4595_4597delinsTTCCTCCTG (p.Gly1532_Thr1533delinsValProProAla) c.2312_2314delinsTTCCTCCTG (p.Gly771_Thr772delinsValProProAla) c.*2115_*2117delinsTTCCTCCTG (n.*2115_*2117delinsTTCCTCCTG) c.*2324_*2326delinsTTCCTCCTG (n.*2324_*2326delinsTTCCTCCTG) n.1528_1530delinsTTCCTCCTG c.*3951_*3953delinsTTCCTCCTG (n.*3951_*3953delinsTTCCTCCTG) c.4016_4018delinsTTCCTCCTG (p.Gly1339_Thr1340delinsValProProAla) c.3992_3994delinsTTCCTCCTG (p.Gly1331_Thr1332delinsValProProAla) | COSMIC |
9 | g.136504975G>A | CA467832936 | NOTCH1 | n.2523C>T c.4716C>T (p.Gly1572=) c.4602C>T (p.Gly1534=) c.4596C>T (p.Gly1532=) c.2313C>T (p.Gly771=) c.*2116C>T (n.*2116C>T) c.*2325C>T (n.*2325C>T) n.1529C>T c.*3952C>T (n.*3952C>T) c.4017C>T (p.Gly1339=) c.3993C>T (p.Gly1331=) | dbSNP gnomAD v4 |
9 | g.136504975G>C | CA467832937 | NOTCH1 | n.2523C>G c.4716C>G (p.Gly1572=) c.4602C>G (p.Gly1534=) c.4596C>G (p.Gly1532=) c.2313C>G (p.Gly771=) c.*2116C>G (n.*2116C>G) c.*2325C>G (n.*2325C>G) n.1529C>G c.*3952C>G (n.*3952C>G) c.4017C>G (p.Gly1339=) c.3993C>G (p.Gly1331=) | dbSNP |
9 | g.136504975G>T | CA467832938 | NOTCH1 | n.2523C>A c.4716C>A (p.Gly1572=) c.4602C>A (p.Gly1534=) c.4596C>A (p.Gly1532=) c.2313C>A (p.Gly771=) c.*2116C>A (n.*2116C>A) c.*2325C>A (n.*2325C>A) n.1529C>A c.*3952C>A (n.*3952C>A) c.4017C>A (p.Gly1339=) c.3993C>A (p.Gly1331=) | dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.136504976C>A | CA375645355 | NOTCH1 | n.2522G>T c.4715G>T (p.Gly1572Val) c.4601G>T (p.Gly1534Val) c.4595G>T (p.Gly1532Val) c.2312G>T (p.Gly771Val) c.*2115G>T (n.*2115G>T) c.*2324G>T (n.*2324G>T) n.1528G>T c.*3951G>T (n.*3951G>T) c.4016G>T (p.Gly1339Val) c.3992G>T (p.Gly1331Val) | dbSNP |
9 | g.136504976C>G | CA375645357 | NOTCH1 | n.2522G>C c.4715G>C (p.Gly1572Ala) c.4601G>C (p.Gly1534Ala) c.4595G>C (p.Gly1532Ala) c.2312G>C (p.Gly771Ala) c.*2115G>C (n.*2115G>C) c.*2324G>C (n.*2324G>C) n.1528G>C c.*3951G>C (n.*3951G>C) c.4016G>C (p.Gly1339Ala) c.3992G>C (p.Gly1331Ala) | dbSNP |
9 | g.136504976C>T | CA375645360 | NOTCH1 | n.2522G>A c.4715G>A (p.Gly1572Asp) c.4601G>A (p.Gly1534Asp) c.4595G>A (p.Gly1532Asp) c.2312G>A (p.Gly771Asp) c.*2115G>A (n.*2115G>A) c.*2324G>A (n.*2324G>A) n.1528G>A c.*3951G>A (n.*3951G>A) c.4016G>A (p.Gly1339Asp) c.3992G>A (p.Gly1331Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.136504977C>A | CA375645364 | NOTCH1 | n.2521G>T c.4714G>T (p.Gly1572Cys) c.4600G>T (p.Gly1534Cys) c.4594G>T (p.Gly1532Cys) c.2311G>T (p.Gly771Cys) c.*2114G>T (n.*2114G>T) c.*2323G>T (n.*2323G>T) n.1527G>T c.*3950G>T (n.*3950G>T) c.4015G>T (p.Gly1339Cys) c.3991G>T (p.Gly1331Cys) | dbSNP gnomAD v4 |
9 | g.136504977C>G | CA375645369 | NOTCH1 | n.2521G>C c.4714G>C (p.Gly1572Arg) c.4600G>C (p.Gly1534Arg) c.4594G>C (p.Gly1532Arg) c.2311G>C (p.Gly771Arg) c.*2114G>C (n.*2114G>C) c.*2323G>C (n.*2323G>C) n.1527G>C c.*3950G>C (n.*3950G>C) c.4015G>C (p.Gly1339Arg) c.3991G>C (p.Gly1331Arg) | dbSNP |
9 | g.136504977C>T | CA375645368 | NOTCH1 | n.2521G>A c.4714G>A (p.Gly1572Ser) c.4600G>A (p.Gly1534Ser) c.4594G>A (p.Gly1532Ser) c.2311G>A (p.Gly771Ser) c.*2114G>A (n.*2114G>A) c.*2323G>A (n.*2323G>A) n.1527G>A c.*3950G>A (n.*3950G>A) c.4015G>A (p.Gly1339Ser) c.3991G>A (p.Gly1331Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.136504978G>A | CA5340529 | NOTCH1 | n.2520C>T c.4713C>T (p.Ala1571=) c.4599C>T (p.Ala1533=) c.4593C>T (p.Ala1531=) c.2310C>T (p.Ala770=) c.*2113C>T (n.*2113C>T) c.*2322C>T (n.*2322C>T) n.1526C>T c.*3949C>T (n.*3949C>T) c.4014C>T (p.Ala1338=) c.3990C>T (p.Ala1330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136504978G>C | CA467832946 | NOTCH1 | n.2520C>G c.4713C>G (p.Ala1571=) c.4599C>G (p.Ala1533=) c.4593C>G (p.Ala1531=) c.2310C>G (p.Ala770=) c.*2113C>G (n.*2113C>G) c.*2322C>G (n.*2322C>G) n.1526C>G c.*3949C>G (n.*3949C>G) c.4014C>G (p.Ala1338=) c.3990C>G (p.Ala1330=) | dbSNP |
9 | g.136504978G>T | CA467832945 | NOTCH1 | n.2520C>A c.4713C>A (p.Ala1571=) c.4599C>A (p.Ala1533=) c.4593C>A (p.Ala1531=) c.2310C>A (p.Ala770=) c.*2113C>A (n.*2113C>A) c.*2322C>A (n.*2322C>A) n.1526C>A c.*3949C>A (n.*3949C>A) c.4014C>A (p.Ala1338=) c.3990C>A (p.Ala1330=) | dbSNP |
9 | g.136504979G>A | CA375645370 | NOTCH1 | n.2519C>T c.4712C>T (p.Ala1571Val) c.4598C>T (p.Ala1533Val) c.4592C>T (p.Ala1531Val) c.2309C>T (p.Ala770Val) c.*2112C>T (n.*2112C>T) c.*2321C>T (n.*2321C>T) n.1525C>T c.*3948C>T (n.*3948C>T) c.4013C>T (p.Ala1338Val) c.3989C>T (p.Ala1330Val) | dbSNP gnomAD v4 |
9 | g.136504979G>C | CA375645372 | NOTCH1 | n.2519C>G c.4712C>G (p.Ala1571Gly) c.4598C>G (p.Ala1533Gly) c.4592C>G (p.Ala1531Gly) c.2309C>G (p.Ala770Gly) c.*2112C>G (n.*2112C>G) c.*2321C>G (n.*2321C>G) n.1525C>G c.*3948C>G (n.*3948C>G) c.4013C>G (p.Ala1338Gly) c.3989C>G (p.Ala1330Gly) | dbSNP |
9 | g.136504979G>T | CA375645373 | NOTCH1 | n.2519C>A c.4712C>A (p.Ala1571Asp) c.4598C>A (p.Ala1533Asp) c.4592C>A (p.Ala1531Asp) c.2309C>A (p.Ala770Asp) c.*2112C>A (n.*2112C>A) c.*2321C>A (n.*2321C>A) n.1525C>A c.*3948C>A (n.*3948C>A) c.4013C>A (p.Ala1338Asp) c.3989C>A (p.Ala1330Asp) | dbSNP |
9 | g.136504980C>A | CA375645377 | NOTCH1 | n.2518G>T c.4711G>T (p.Ala1571Ser) c.4597G>T (p.Ala1533Ser) c.4591G>T (p.Ala1531Ser) c.2308G>T (p.Ala770Ser) c.*2111G>T (n.*2111G>T) c.*2320G>T (n.*2320G>T) n.1524G>T c.*3947G>T (n.*3947G>T) c.4012G>T (p.Ala1338Ser) c.3988G>T (p.Ala1330Ser) | gnomAD v4 |
9 | g.136504980C>G | CA375645376 | NOTCH1 | n.2518G>C c.4711G>C (p.Ala1571Pro) c.4597G>C (p.Ala1533Pro) c.4591G>C (p.Ala1531Pro) c.2308G>C (p.Ala770Pro) c.*2111G>C (n.*2111G>C) c.*2320G>C (n.*2320G>C) n.1524G>C c.*3947G>C (n.*3947G>C) c.4012G>C (p.Ala1338Pro) c.3988G>C (p.Ala1330Pro) | dbSNP |
9 | g.136504980C>T | CA375645375 | NOTCH1 | n.2518G>A c.4711G>A (p.Ala1571Thr) c.4597G>A (p.Ala1533Thr) c.4591G>A (p.Ala1531Thr) c.2308G>A (p.Ala770Thr) c.*2111G>A (n.*2111G>A) c.*2320G>A (n.*2320G>A) n.1524G>A c.*3947G>A (n.*3947G>A) c.4012G>A (p.Ala1338Thr) c.3988G>A (p.Ala1330Thr) | dbSNP |
9 | g.136504981C>A | CA467832949 | NOTCH1 | n.2517G>T c.4710G>T (p.Ala1570=) c.4596G>T (p.Ala1532=) c.4590G>T (p.Ala1530=) c.2307G>T (p.Ala769=) c.*2110G>T (n.*2110G>T) c.*2319G>T (n.*2319G>T) n.1523G>T c.*3946G>T (n.*3946G>T) c.4011G>T (p.Ala1337=) c.3987G>T (p.Ala1329=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136504981C>G | CA467832951 | NOTCH1 | n.2517G>C c.4710G>C (p.Ala1570=) c.4596G>C (p.Ala1532=) c.4590G>C (p.Ala1530=) c.2307G>C (p.Ala769=) c.*2110G>C (n.*2110G>C) c.*2319G>C (n.*2319G>C) n.1523G>C c.*3946G>C (n.*3946G>C) c.4011G>C (p.Ala1337=) c.3987G>C (p.Ala1329=) | dbSNP |
9 | g.136504981C>T | CA5340530 | NOTCH1 | n.2517G>A c.4710G>A (p.Ala1570=) c.4596G>A (p.Ala1532=) c.4590G>A (p.Ala1530=) c.2307G>A (p.Ala769=) c.*2110G>A (n.*2110G>A) c.*2319G>A (n.*2319G>A) n.1523G>A c.*3946G>A (n.*3946G>A) c.4011G>A (p.Ala1337=) c.3987G>A (p.Ala1329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.136504982G>A | CA5340531 | NOTCH1 | n.2516C>T c.4709C>T (p.Ala1570Val) c.4595C>T (p.Ala1532Val) c.4589C>T (p.Ala1530Val) c.2306C>T (p.Ala769Val) c.*2109C>T (n.*2109C>T) c.*2318C>T (n.*2318C>T) n.1522C>T c.*3945C>T (n.*3945C>T) c.4010C>T (p.Ala1337Val) c.3986C>T (p.Ala1329Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136504982G>C | CA201644019 | NOTCH1 | n.2516C>G c.4709C>G (p.Ala1570Gly) c.4595C>G (p.Ala1532Gly) c.4589C>G (p.Ala1530Gly) c.2306C>G (p.Ala769Gly) c.*2109C>G (n.*2109C>G) c.*2318C>G (n.*2318C>G) n.1522C>G c.*3945C>G (n.*3945C>G) c.4010C>G (p.Ala1337Gly) c.3986C>G (p.Ala1329Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.136504982G>T | CA375645379 | NOTCH1 | n.2516C>A c.4709C>A (p.Ala1570Glu) c.4595C>A (p.Ala1532Glu) c.4589C>A (p.Ala1530Glu) c.2306C>A (p.Ala769Glu) c.*2109C>A (n.*2109C>A) c.*2318C>A (n.*2318C>A) n.1522C>A c.*3945C>A (n.*3945C>A) c.4010C>A (p.Ala1337Glu) c.3986C>A (p.Ala1329Glu) | |
9 | g.136504983C>A | CA375645383 | NOTCH1 | n.2515G>T c.4708G>T (p.Ala1570Ser) c.4594G>T (p.Ala1532Ser) c.4588G>T (p.Ala1530Ser) c.2305G>T (p.Ala769Ser) c.*2108G>T (n.*2108G>T) c.*2317G>T (n.*2317G>T) n.1521G>T c.*3944G>T (n.*3944G>T) c.4009G>T (p.Ala1337Ser) c.3985G>T (p.Ala1329Ser) | dbSNP |
9 | g.136504983C>G | CA375645385 | NOTCH1 | n.2515G>C c.4708G>C (p.Ala1570Pro) c.4594G>C (p.Ala1532Pro) c.4588G>C (p.Ala1530Pro) c.2305G>C (p.Ala769Pro) c.*2108G>C (n.*2108G>C) c.*2317G>C (n.*2317G>C) n.1521G>C c.*3944G>C (n.*3944G>C) c.4009G>C (p.Ala1337Pro) c.3985G>C (p.Ala1329Pro) | dbSNP |
9 | g.136504983C>T | CA375645388 | NOTCH1 | n.2515G>A c.4708G>A (p.Ala1570Thr) c.4594G>A (p.Ala1532Thr) c.4588G>A (p.Ala1530Thr) c.2305G>A (p.Ala769Thr) c.*2108G>A (n.*2108G>A) c.*2317G>A (n.*2317G>A) n.1521G>A c.*3944G>A (n.*3944G>A) c.4009G>A (p.Ala1337Thr) c.3985G>A (p.Ala1329Thr) | dbSNP COSMIC |
9 | g.136504984C>A | CA467832953 | NOTCH1 | n.2514G>T c.4707G>T (p.Leu1569=) c.4593G>T (p.Leu1531=) c.4587G>T (p.Leu1529=) c.2304G>T (p.Leu768=) c.*2107G>T (n.*2107G>T) c.*2316G>T (n.*2316G>T) n.1520G>T c.*3943G>T (n.*3943G>T) c.4008G>T (p.Leu1336=) c.3984G>T (p.Leu1328=) | dbSNP |
9 | g.136504984C>G | CA467832954 | NOTCH1 | n.2514G>C c.4707G>C (p.Leu1569=) c.4593G>C (p.Leu1531=) c.4587G>C (p.Leu1529=) c.2304G>C (p.Leu768=) c.*2107G>C (n.*2107G>C) c.*2316G>C (n.*2316G>C) n.1520G>C c.*3943G>C (n.*3943G>C) c.4008G>C (p.Leu1336=) c.3984G>C (p.Leu1328=) | |
9 | g.136504984C>T | CA467832957 | NOTCH1 | n.2514G>A c.4707G>A (p.Leu1569=) c.4593G>A (p.Leu1531=) c.4587G>A (p.Leu1529=) c.2304G>A (p.Leu768=) c.*2107G>A (n.*2107G>A) c.*2316G>A (n.*2316G>A) n.1520G>A c.*3943G>A (n.*3943G>A) c.4008G>A (p.Leu1336=) c.3984G>A (p.Leu1328=) | dbSNP |
9 | g.136504985A>C | CA375645393 | NOTCH1 | n.2513T>G c.4706T>G (p.Leu1569Arg) c.4592T>G (p.Leu1531Arg) c.4586T>G (p.Leu1529Arg) c.2303T>G (p.Leu768Arg) c.*2106T>G (n.*2106T>G) c.*2315T>G (n.*2315T>G) n.1519T>G c.*3942T>G (n.*3942T>G) c.4007T>G (p.Leu1336Arg) c.3983T>G (p.Leu1328Arg) | dbSNP |
9 | g.136504985A>G | CA375645395 | NOTCH1 | n.2513T>C c.4706T>C (p.Leu1569Pro) c.4592T>C (p.Leu1531Pro) c.4586T>C (p.Leu1529Pro) c.2303T>C (p.Leu768Pro) c.*2106T>C (n.*2106T>C) c.*2315T>C (n.*2315T>C) n.1519T>C c.*3942T>C (n.*3942T>C) c.4007T>C (p.Leu1336Pro) c.3983T>C (p.Leu1328Pro) | dbSNP |
9 | g.136504985A>T | CA375645398 | NOTCH1 | n.2513T>A c.4706T>A (p.Leu1569Gln) c.4592T>A (p.Leu1531Gln) c.4586T>A (p.Leu1529Gln) c.2303T>A (p.Leu768Gln) c.*2106T>A (n.*2106T>A) c.*2315T>A (n.*2315T>A) n.1519T>A c.*3942T>A (n.*3942T>A) c.4007T>A (p.Leu1336Gln) c.3983T>A (p.Leu1328Gln) | dbSNP |
9 | g.136504986G>A | CA467832960 | NOTCH1 | n.2512C>T c.4705C>T (p.Leu1569=) c.4591C>T (p.Leu1531=) c.4585C>T (p.Leu1529=) c.2302C>T (p.Leu768=) c.*2105C>T (n.*2105C>T) c.*2314C>T (n.*2314C>T) n.1518C>T c.*3941C>T (n.*3941C>T) c.4006C>T (p.Leu1336=) c.3982C>T (p.Leu1328=) | dbSNP gnomAD v4 |
9 | g.136504986G>C | CA375645401 | NOTCH1 | n.2512C>G c.4705C>G (p.Leu1569Val) c.4591C>G (p.Leu1531Val) c.4585C>G (p.Leu1529Val) c.2302C>G (p.Leu768Val) c.*2105C>G (n.*2105C>G) c.*2314C>G (n.*2314C>G) n.1518C>G c.*3941C>G (n.*3941C>G) c.4006C>G (p.Leu1336Val) c.3982C>G (p.Leu1328Val) | dbSNP |
9 | g.136504986G>T | CA375645404 | NOTCH1 | n.2512C>A c.4705C>A (p.Leu1569Met) c.4591C>A (p.Leu1531Met) c.4585C>A (p.Leu1529Met) c.2302C>A (p.Leu768Met) c.*2105C>A (n.*2105C>A) c.*2314C>A (n.*2314C>A) n.1518C>A c.*3941C>A (n.*3941C>A) c.4006C>A (p.Leu1336Met) c.3982C>A (p.Leu1328Met) | gnomAD v4 |
9 | g.136504987C>A | CA375645408 | NOTCH1 | n.2511G>T c.4704G>T (p.Arg1568Ser) c.4590G>T (p.Arg1530Ser) c.4584G>T (p.Arg1528Ser) c.2301G>T (p.Arg767Ser) c.*2104G>T (n.*2104G>T) c.*2313G>T (n.*2313G>T) n.1517G>T c.*3940G>T (n.*3940G>T) c.4005G>T (p.Arg1335Ser) c.3981G>T (p.Arg1327Ser) | dbSNP gnomAD v4 |
9 | g.136504987C>G | CA375645409 | NOTCH1 | n.2511G>C c.4704G>C (p.Arg1568Ser) c.4590G>C (p.Arg1530Ser) c.4584G>C (p.Arg1528Ser) c.2301G>C (p.Arg767Ser) c.*2104G>C (n.*2104G>C) c.*2313G>C (n.*2313G>C) n.1517G>C c.*3940G>C (n.*3940G>C) c.4005G>C (p.Arg1335Ser) c.3981G>C (p.Arg1327Ser) | dbSNP |
9 | g.136504987C>T | CA467832962 | NOTCH1 | n.2511G>A c.4704G>A (p.Arg1568=) c.4590G>A (p.Arg1530=) c.4584G>A (p.Arg1528=) c.2301G>A (p.Arg767=) c.*2104G>A (n.*2104G>A) c.*2313G>A (n.*2313G>A) n.1517G>A c.*3940G>A (n.*3940G>A) c.4005G>A (p.Arg1335=) c.3981G>A (p.Arg1327=) | dbSNP |