PMID: 31343788

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human mutation
MA Gilbert, RC Bauer, R Rajagopalan, CM Grochowski, G Chao, D McEldrew, JA Nassur, EB Rand, BL Krock, BM Kamath, ID Krantz, DA Piccoli, KM Loomes, NB Spinner
2019-12

288 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
20-10629204-GAG-G JAG1 c.1563_1564delCT p.Cys522Serfs*8 Frameshift 12/26 -
20-10627597-G-C JAG1 c.1875C>G p.Tyr625* Nonsense 14/26 -
3-158408935-CTA-C GFM1 c.2078_2079delTA p.Leu693Glnfs*2 Frameshift 17/18 -
20-10622195-C-CC JAG1 c.2830_2830dup p.Val944Glyfs*8 Frameshift 23/26 -
20-10620561-C-CC JAG1 c.3243_3243dup p.Ile1082Aspfs*27 Frameshift 26/26 -
20-10626638-CC-C JAG1 c.1984delG p.Ala662Profs*81 Frameshift 15/26 -
3-158402407-A-AA GFM1 c.1859_1859dup p.Asp620Glufs*3 Frameshift 15/18 -
1-120460308-G-A NOTCH2 c.6007C>T p.Arg2003* Nonsense 33/34 -
20-10654115-A-G JAG1 c.64T>C p.Cys22Arg Missense 1/26 -
3-158402448-TCT-T GFM1 c.1900_1901delCT p.Leu634*fs*1 Frameshift 15/18 -
20-10622435-G-C JAG1 c.2678C>G p.Ser893* Nonsense 22/26 -
3-158409174-CC-C GFM1 c.2174delC p.Pro725Hisfs*39 Frameshift 18/18 -
20-10654120-A-G JAG1 c.59T>C p.Leu20Pro Missense 1/26 -
4-110885644-CA-C EGF c.1526delA p.Gln509Argfs*9 Frameshift 10/23 -
20-10654120-A-C JAG1 c.59T>G p.Leu20Arg Missense 1/26 -
20-10621805-CAAGC-C JAG1 c.3003_3006delTTGC p.Cys1002Serfs*33 Frameshift 24/26 -
20-10625849-CC-C JAG1 c.2173delG p.Asp725Metfs*18 Frameshift 17/26 -
20-10622126-G-GG JAG1 c.2898_2898dup p.Lys967Glnfs*16 Frameshift 23/26 -
20-10622292-C-T JAG1 c.2732G>A p.Cys911Tyr Missense 23/26 -
20-10630929-G-GG JAG1 c.1205_1205dup p.Gln403Thrfs*13 Frameshift 9/26 -
3-158408027-GG-G GFM1 c.1985delG p.Gly662Aspfs*3 Frameshift 16/18 -
4-110890216-T-G EGF c.1665T>G p.Asp555Glu Missense 11/23 -
20-10633131-G-A JAG1 c.871C>T p.Gln291* Nonsense 6/26 -
4-110916004-TG-T EGF c.2850delG p.Met950Ilefs*27 Frameshift 19/23 -
20-10622174-CA-C JAG1 c.2850delT p.Asp951Thrfs*19 Frameshift 23/26 -
20-10630937-CAC-C JAG1 c.1198_1199delTG p.Cys400Profs*15 Frameshift 9/26 -
20-10654171-G-GG JAG1 c.11_11dup p.Arg5Thrfs*68 Frameshift 1/26 -
20-10644612-GAACG-G JAG1 c.438_439+2delTCGT - SpliceDonorDeletion 3/26 -
4-110929382-A-AA EGF c.3243_3243dup p.Asp1082Argfs*31 Frameshift 22/23 -
20-10653596-CCC-C JAG1 c.141_142delGG p.Glu48Alafs*24 Frameshift 2/26 -
20-10637098-G-A JAG1 c.703C>T p.Arg235* Nonsense 5/26 -
4-110883034-C-CC EGF c.1205_1205dup p.Arg403Thrfs*5 Frameshift 8/23 -
1-120510091-T-C NOTCH2 c.1418A>G p.Asp473Gly Missense 8/34 -
1-120510091-T-A NOTCH2 c.1418A>T p.Asp473Val Missense 8/34 -
20-10630205-C-G JAG1 c.1313G>C p.Cys438Ser Missense 10/26 -
4-110885640-A-AA EGF c.1522_1522dup p.Ser508Lysfs*13 Frameshift 10/23 -
20-10621886-T-TT JAG1 c.2923_2923dup p.Thr975Asnfs*8 Frameshift 24/26 -
20-10622474-ACA-A JAG1 c.2639_2640delGT p.Cys880*fs*1 Frameshift 22/26 -
20-10627614-CCTTTGTT-C JAG1 c.1852_1858delAACAAAG p.Asn618Alafs*123 Frameshift 14/26 -
3-158408977-C-CC GFM1 c.2120_2120dup p.Glu708Argfs*11 Frameshift 17/18 -
20-10653635-CTGAC-C JAG1 c.100_103delCAGT p.Gln34Serfs*11 Frameshift 2/26 -
20-10653462-A-G JAG1 c.274T>C p.Cys92Arg Missense 2/26 -
3-158402402-TGGTTGAT-T GFM1 c.1854_1860delGGTTGAT p.Met618Ilefs*36 Frameshift 15/18 -
4-110885573-G-GGT EGF c.1455_1456insGT p.Leu486Valfs*33 Frameshift 10/23 -
20-10622226-A-AA JAG1 c.2798_2798dup p.Glu935Argfs*17 Frameshift 23/26 -
4-110866257-G-A EGF c.766G>A p.Gly256Ser Missense 5/23 -
4-110920887-T-TT EGF c.2935_2935dup p.Trp979Leufs*53 Frameshift 20/23 -
3-158363990-T-TT GFM1 c.270_270dup p.Ser91Phefs*27 Frameshift 3/18 -
4-110909793-GTGCATCAACACCGAAG-G EGF c.2662_2677del16 p.Cys888Valfs*36 Frameshift 18/23 -
20-10622320-A-T JAG1 c.2704T>A p.Cys902Ser Missense 23/26 -
20-10633163-C-T JAG1 c.839G>A p.Trp280* Nonsense 6/26 -
20-10628646-G-C JAG1 c.1682C>G p.Ser561* Nonsense 13/26 -
4-110885683-GTG-G EGF c.1565_1566delTG p.Val522Glyfs*3 Frameshift 10/23 -
20-10623235-G-A JAG1 c.2473C>T p.Gln825* Nonsense 21/26 -
4-110920957-CTTGT-C EGF c.3005_3008delTTGT p.Leu1002Profs*6 Frameshift 20/23 -
4-110904648-T-TT EGF c.2442_2442dup p.Asn815*fs*1 Nonsense 16/23 -
20-10621530-T-TT JAG1 c.3103_3103dup p.Ile1035Asnfs*6 Frameshift 25/26 -
3-158408954-ATTCCA-A GFM1 c.2097_2101delTTCCA p.Ser700*fs*1 Frameshift 17/18 -
20-10631003-TC-T JAG1 c.1126delG p.Asp376Metfs*36 Frameshift 9/26 -
4-110890264-GGA-G EGF c.1713_1714delGA p.Trp571Cysfs*12 Frameshift 11/23 -
20-10633198-G-T JAG1 c.804C>A p.His268Gln Missense 6/26 -
4-110884450-CTTCAGGTTAGTGCTGTGGTTGTCTGGAACTGTGTCCCTGAAAAAAAATTCATGAAAATC-C EGF c.1434_1444del1113 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/23 9/22
20-10630991-GG-G JAG1 c.1139delC p.Pro380Leufs*32 Frameshift 9/26 -
20-10630206-A-T JAG1 c.1312T>A p.Cys438Ser Missense 10/26 -
20-10653639-C-T JAG1 c.97G>A p.Gly33Ser Missense 2/26 -
20-10626641-C-T JAG1 c.1977G>A p.Trp659* Nonsense 15/26 -
4-110925774-CC-C EGF c.3164delC p.Pro1055Leufs*6 Frameshift 21/23 -
20-10625588-CCC-C JAG1 c.2269_2270delGG p.Gly757Hisfs*28 Frameshift 18/26 -
20-10622501-GG-CA JAG1 c.2611_2612delinsTG p.Pro871* Missense 22/26 -
20-10626626-A-T JAG1 c.1992T>A p.Cys664* Nonsense 15/26 -
20-10630205-C-A JAG1 c.1313G>T p.Cys438Phe Missense 10/26 -
20-10625551-G-T JAG1 c.2304C>A p.Cys768* Nonsense 18/26 -
4-110884439-A-AA EGF c.1419_1419dup p.Ser475Lysfs*25 Frameshift 9/23 -
20-10653429-C-CC JAG1 c.311_311dup p.Asn105Glnfs*39 Frameshift 2/26 -
20-10653471-CC-C JAG1 c.270delG p.Cys92Alafs*69 Frameshift 2/26 -
1-120510847-A-G NOTCH2 c.1117T>C p.Cys373Arg Missense 7/34 -
4-110882036-GTG-G EGF c.1080_1081delTG p.Ala361Phefs*11 Frameshift 7/23 -
20-10628687-A-C JAG1 c.1641T>G p.Tyr547* Nonsense 13/26 -
20-10644609-TACGAACG-T JAG1 c.435_439+2delCGTTCGT - SpliceDonorDeletion 3/26 3/25
20-10622434-T-TT JAG1 c.2681_2681dup p.Val895Glyfs*57 Frameshift 22/26 -
3-158363990-TT-T GFM1 c.271delT p.Ser91Profs*4 Frameshift 3/18 -
4-110920875-G-GG EGF c.2923_2923dup p.Asp975Glyfs*57 Frameshift 20/23 -
20-10653588-G-A JAG1 c.148C>T p.Gln50* Nonsense 2/26 -
20-10621819-G-T JAG1 c.2990C>A p.Ser997* Nonsense 24/26 -
4-110890229-TC-T EGF c.1678delC p.Ala561Leufs*18 Frameshift 11/23 -
4-110883051-T-TT EGF c.1222_1222dup p.Cys408Leufs*4 Frameshift 8/23 -
20-10629244-T-TT JAG1 c.1522_1522dup p.Arg508Lysfs*23 Frameshift 12/26 -
4-110929336-T-TT EGF c.3197_3197dup p.Lys1067Glnfs*10 Frameshift 22/23 -
20-10625579-ACA-A JAG1 c.2279_2280delTG p.Val760Glyfs*25 Frameshift 18/26 -
20-10632875-G-A JAG1 c.910C>T p.Gln304* Nonsense 7/26 -
3-158408981-AGGTAGGCAAATTTAAACTTACCCTTCAAAAGACCACCCTACAGAATGATCATATTATAA-A GFM1 c.2124_2127del147 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 17/18 17/17
20-10639269-A-T JAG1 c.541T>A p.Tyr181Asn Missense 4/26 -
20-10628650-CA-C JAG1 c.1678delT p.Cys560Alafs*4 Frameshift 13/26 -
4-110920879-T-TT EGF c.2927_2927dup p.Lys977Glufs*55 Frameshift 20/23 -
3-158362493-GC-G GFM1 c.70delC p.Gln24Argfs*17 Frameshift 1/18 -
20-10633194-C-A JAG1 c.808G>T p.Gly270* Nonsense 6/26 -
20-10653447-CC-C JAG1 c.291delG p.Ser98Profs*63 Frameshift 2/26 -
20-10653550-CTC-C JAG1 c.187_188delGA p.Asp63Profs*9 Frameshift 2/26 -
20-10621850-TT-T JAG1 c.2960delA p.Asn987Ilefs*3 Frameshift 24/26 -
20-10626039-ACA-A JAG1 c.2078_2079delGT p.Cys693*fs*1 Frameshift 16/26 -
20-10629280-CAG-C JAG1 c.1485_1486delCT p.Cys496Phefs*9 Frameshift 12/26 -
4-110920913-GG-G EGF c.2961delG p.Gln988Serfs*21 Frameshift 20/23 -
4-110925771-CAACC-C EGF c.3161_3164delAACC p.Gln1054Leufs*6 Frameshift 21/23 -
4-110885656-ATG-A EGF c.1538_1539delTG p.Met513Serfs*7 Frameshift 10/23 -
20-10627726-CC-C JAG1 c.1747delG p.Ala583Leufs*160 Frameshift 14/26 -
20-10621805-A-G JAG1 c.3004T>C p.Cys1002Arg Missense 24/26 -
3-158369896-CG-C GFM1 c.701delG p.Arg234Hisfs*9 Frameshift 6/18 -
20-10629742-G-T JAG1 c.1362C>A p.Cys454* Nonsense 11/26 -
4-110920850-C-CC EGF c.2898_2898dup p.Ile967Hisfs*65 Frameshift 20/23 -
3-158408086-G-GG GFM1 c.2044_2044dup p.Glu682Glyfs*14 Frameshift 16/18 -
4-110909014-TCT-T EGF c.2606_2607delCT - SpliceDonorDeletion 17/23 -
4-110915984-C-CC EGF c.2830_2830dup p.Leu944Profs*3 Frameshift 19/23 -
4-110909742-AT-TG EGF c.2611_2612delinsTG p.Ile871* Missense 18/23 -
4-110909772-GTG-G EGF c.2641_2642delTG p.Cys881Profs*31 Frameshift 18/23 -
20-10653499-G-GG JAG1 c.237_237dup p.Lys80Glnfs*64 Frameshift 2/26 -
20-10639260-G-A JAG1 c.550C>T p.Arg184Cys Missense 4/26 -
4-110908998-G-GG EGF c.2587_2587dup p.Asp864Glyfs*7 Frameshift 17/23 -
20-10632799-G-C JAG1 c.986C>G p.Ser329* Nonsense 7/26 -
20-10625814-C-T JAG1 c.2204G>A p.Trp735* Nonsense 17/26 -
20-10626073-A-AA JAG1 c.2044_2044dup p.Cys682Leufs*7 Frameshift 16/26 -
3-158408102-T-TT GFM1 c.2060dupT p.Tyr688Valfs*8 Frameshift 16/18 -
4-110909009-A-AA EGF c.2601_2601dup p.Cys868Metfs*3 Frameshift 17/23 -
4-110909862-C-CC EGF c.2731_2731dup p.Leu911Profs*2 Frameshift 18/23 -
3-158408081-GG-G GFM1 c.2039delG p.Gly680Glufs*14 Frameshift 16/18 -
20-10626720-ACA-A JAG1 c.1899_1900delTG p.Cys633*fs*1 Frameshift 15/26 -
4-110885574-C-CC EGF c.1456_1456dup p.Leu486Profs*14 Frameshift 10/23 -
20-10624425-AC-A JAG1 c.2458+1delG - IntronicDeletion - 20/25
20-10629230-ACA-A JAG1 c.1538_1539delGT p.Cys513Serfs*17 Frameshift 12/26 -
4-110925713-A-AA EGF c.3103_3103dup p.Arg1035Lysfs*10 Frameshift 21/23 -
20-10622509-CAC-C JAG1 c.2606_2607delTG p.Val869Aspfs*9 Frameshift 22/26 -
20-10620602-AA-A JAG1 c.3203delT p.Phe1068Serfs*6 Frameshift 26/26 -
20-10653571-G-T JAG1 c.165C>A p.Cys55* Nonsense 2/26 -
3-158408941-GA-G GFM1 c.2084delA p.Asp695Valfs*69 Frameshift 17/18 -
20-10621531-TG-T JAG1 c.3099delC p.Asp1033Glufs*3 Frameshift 25/26 -
4-110885578-TTT-T EGF c.1460_1461delTT p.Phe487Cysfs*12 Frameshift 10/23 -
20-10653511-TGAAGTATGTGTCACA-T JAG1 c.211_225del15 p.Cys71_phe75del InFrameDeletion 2/26 -
4-110895881-TG-T EGF c.1747delG p.Asp583Ilefs*2 Frameshift 12/23 -
1-120465294-T-C NOTCH2 c.4967A>G p.Gln1656Arg Missense 27/34 -
4-110920956-GCTTG-G EGF c.3004_3007delCTTG p.Leu1002Serfs*6 Frameshift 20/23 -
3-158408977-ACA-A GFM1 c.2120_2121delCA p.Thr707Argfs*11 Frameshift 17/18 -
20-10626037-TT-T JAG1 c.2084delA p.Asn695Metfs*48 Frameshift 16/26 -
20-10653632-A-G JAG1 c.104T>C p.Phe35Ser Missense 2/26 -
4-110885603-ACA-A EGF c.1485_1486delCA p.Met496Alafs*3 Frameshift 10/23 -
20-10630973-C-T JAG1 c.1156G>A p.Gly386Arg Missense 9/26 -
20-10654111-GGCACAGAGCAGGGCGAGCAGG-G JAG1 c.53_73del21 p.Leu18_leu24del InFrameDeletion 1/26 -
4-110890264-G-GG EGF c.1713_1713dup p.Thr572Aspfs*12 Frameshift 11/23 -
20-10630213-G-C JAG1 c.1305C>G p.Tyr435* Nonsense 10/26 -
20-10621466-TACTT-T JAG1 c.3164_3167delTAAG p.Val1055Glufs*7 Frameshift 25/26 -
20-10629310-T-TT JAG1 c.1456dupA p.Arg486Lysfs*5 Frameshift 12/26 -
20-10644611-G-A JAG1 c.439C>T p.Gln147* Nonsense 3/26 -
20-10630256-ACA-A JAG1 c.1264_1265delGT p.Val422Lysfs*6 Frameshift 10/26 -
20-10653449-G-C JAG1 c.287C>G p.Ser96* Nonsense 2/26 -
4-110925709-CG-C EGF c.3099delG p.Ser1034Alafs*4 Frameshift 21/23 -
20-10637101-A-C JAG1 c.700T>G p.Cys234Gly Missense 5/26 -
4-110883093-TTT-T EGF c.1264_1265delTT p.Phe422Leufs*3 Frameshift 8/23 -
20-10629305-TGT-T JAG1 c.1461_1462delCA p.Ile488Argfs*2 Frameshift 12/26 -
20-10621458-G-A JAG1 c.3172C>T p.Gln1058* Nonsense 25/26 -
20-10627614-C-CC JAG1 c.1859_1859dup p.Phe621Leufs*8 Frameshift 14/26 -
3-158402370-C-T GFM1 c.1822C>T p.Arg608Trp Missense 15/18 -
20-10653453-C-G JAG1 c.283G>C p.Gly95Arg Missense 2/26 -
20-10626642-C-T JAG1 c.1976G>A p.Trp659* Nonsense 15/26 -
20-10626026-C-T JAG1 c.2091G>A p.Trp697* Nonsense 16/26 -
4-110890264-GG-G EGF c.1713delG p.Trp571*fs*1 Frameshift 11/23 -
4-110882103-C-T EGF c.1147C>T p.Pro383Ser Missense 7/23 -
20-10637055-ACCTGGGAG-A JAG1 c.739_746delCTCCCAGG p.Leu247*fs*1 Frameshift 5/26 -
3-158409225-CTT-C GFM1 c.2225_2226delTT p.Leu742Profs*3 Frameshift 18/18 -
20-10637100-GC-G JAG1 c.701delG p.Cys234Serfs*178 Frameshift 5/26 -
3-158369934-CACTGACCA-C GFM1 c.739_746delACTGACCA p.Thr247Profs*6 Frameshift 6/18 -
20-10633208-C-A JAG1 c.794G>T p.Cys265Phe Missense 6/26 -
4-110883020-AA-A EGF c.1191delA p.Gln397Hisfs*18 Frameshift 8/23 -
20-10630193-C-T JAG1 c.1325G>A p.Trp442* Nonsense 10/26 -
4-110890233-C-G EGF c.1682C>G p.Ala561Gly Missense 11/23 -
20-10628619-G-GG JAG1 c.1713_1713dup p.Cys572Leufs*2 Frameshift 13/26 -
20-10653471-C-CC JAG1 c.270_270dup p.Pro91Alafs*53 Frameshift 2/26 -
20-10622447-C-T JAG1 c.2666G>A p.Arg889Gln Missense 22/26 -
20-10625897-GACTG-G JAG1 c.2122_2125delCAGT p.Gln708Valfs*34 Frameshift 17/26 -
4-110915976-GGGTACTG-G EGF c.2822_2828delGGTACTG p.Gly941Alafs*34 Frameshift 19/23 -
20-10629709-CCCGAC-C JAG1 c.1393_1395+2delCGGGT - SpliceDonorDeletion 11/26 -
20-10629241-AA-A JAG1 c.1526delT p.Phe509Serfs*55 Frameshift 12/26 -
20-10633237-G-C JAG1 c.765C>G p.Tyr255* Nonsense 6/26 -
20-10621882-G-GG JAG1 c.2927_2927dup p.Glu977Glyfs*6 Frameshift 24/26 -
20-10653503-C-T JAG1 c.233G>A p.Cys78Tyr Missense 2/26 -
20-10653503-C-G JAG1 c.233G>C p.Cys78Ser Missense 2/26 -
4-110915975-TGGGTACTGCCT-T EGF c.2821_2831del11 p.Gly941Profs*2 Frameshift 19/23 -
20-10653626-A-G JAG1 c.110T>C p.Leu37Ser Missense 2/26 -
20-10624444-C-CC JAG1 c.2442_2442dup p.Pro815Alafs*9 Frameshift 20/26 -
20-10633237-G-T JAG1 c.765C>A p.Tyr255* Nonsense 6/26 -
20-10625898-C-CC JAG1 c.2120_2120dup p.Ser707Argfs*4 Frameshift 17/26 -
20-10626089-G-T JAG1 c.2028C>A p.Cys676* Nonsense 16/26 -
20-10639259-C-T JAG1 c.551G>A p.Arg184His Missense 4/26 -
20-10624466-G-T JAG1 c.2418C>A p.Cys806* Nonsense 20/26 -
20-10627650-G-A JAG1 c.1822C>T p.Gln608* Nonsense 14/26 -
20-10653504-A-T JAG1 c.232T>A p.Cys78Ser Missense 2/26 -
20-10622319-C-G JAG1 c.2705G>C p.Cys902Ser Missense 23/26 -
20-10653504-A-C JAG1 c.232T>G p.Cys78Gly Missense 2/26 -
20-10653639-C-G JAG1 c.97G>C p.Gly33Arg Missense 2/26 -
4-110885571-TTT-T EGF c.1453_1454delTT p.Leu485Alafs*14 Frameshift 10/23 -
20-10632867-A-T JAG1 c.918T>A p.Cys306* Nonsense 7/26 -
20-10629199-G-A JAG1 c.1567C>T p.Gln523* Nonsense 12/26 -
20-10653584-GTTCTGCAGCTCCCC-G JAG1 c.139_152del14 p.Gly47Argfs*21 Frameshift 2/26 -
20-10622326-G-A JAG1 c.2698C>T p.Arg900* Nonsense 23/26 -
20-10639322-G-C JAG1 c.488C>G p.Pro163Arg Missense 4/26 -
20-10633198-G-C JAG1 c.804C>G p.His268Gln Missense 6/26 -
20-10639185-TG-T JAG1 c.625delC p.His209Thrfs*203 Frameshift 4/26 -
20-10654175-GC-AA JAG1 c.3_4delinsTT p.Met1_arg2delinsIlecys MultiAAMissense 1/26 -
20-10621467-ACTTC-A JAG1 c.3160_3163delGAAG p.Glu1054*fs*1 Frameshift 25/26 -
20-10625849-C-CC JAG1 c.2173_2173dup p.Asp725Glyfs*4 Frameshift 17/26 -
20-10621490-G-T JAG1 c.3140C>A p.Ser1047* Nonsense 25/26 -
20-10639118-TCT-T JAG1 c.693_694delAG - SpliceDonorDeletion 4/26 -
20-10654111-GG-G JAG1 c.70delC p.Leu24Cysfs*22 Frameshift 1/26 -
4-110885646-C-T EGF c.1528C>T p.Gln510* Nonsense 10/23 -
3-158409174-C-CC GFM1 c.2173_2173dup p.Ser726Ilefs*8 Frameshift 18/18 -
20-10622431-C-CC JAG1 c.2682+1_2682+1dup - SpliceDonorInsertion 22/26 -
20-10653449-G-T JAG1 c.287C>A p.Ser96* Nonsense 2/26 -
4-110882095-TG-T EGF c.1139delG p.Cys380Serfs*5 Frameshift 7/23 -
20-10630276-CA-C JAG1 c.1242delT p.Asn414Lysfs*9 Frameshift 10/26 -
20-10625625-G-A JAG1 c.2230C>T p.Arg744* Nonsense 18/26 -
20-10625900-TGT-T JAG1 c.2118_2119delCA p.Asp706Glufs*4 Frameshift 17/26 -
20-10654114-ACA-A JAG1 c.66_67delTG p.Ala23Profs*49 Frameshift 1/26 -
1-120461101-G-A NOTCH2 c.5857C>T p.Arg1953Cys Missense 32/34 -
20-10632292-C-A JAG1 c.1057G>T p.Glu353* Nonsense 8/26 -
20-10632263-A-T JAG1 c.1086T>A p.Cys362* Nonsense 8/26 -
4-110920870-TA-T EGF c.2918delA p.Tyr973Serfs*4 Frameshift 20/23 -
20-10633181-C-T JAG1 c.821G>A p.Gly274Asp Missense 6/26 -
20-10644649-A-G JAG1 c.401T>C p.Leu134Ser Missense 3/26 -
20-10622515-C-CC JAG1 c.2601_2601dup p.Ser868Glufs*11 Frameshift 22/26 -
20-10653609-G-A JAG1 c.127C>T p.Gln43* Nonsense 2/26 -
4-110909822-C-A EGF c.2691C>A p.Cys897* Nonsense 18/23 -
4-110883027-TTC-T EGF c.1198_1199delTC p.Ser400Leufs*7 Frameshift 8/23 -
4-110883071-TG-T EGF c.1242delG p.Thr415Hisfs*103 Frameshift 8/23 -
4-110909793-GTGCAT-G EGF c.2662_2666delTGCAT p.Cys888Glnfs*23 Frameshift 18/23 -
4-110915952-C-CC EGF c.2798_2798dup p.Glu934*fs*1 Nonsense 19/23 -
20-10622293-A-AA JAG1 c.2731_2731dup p.Cys911Leufs*41 Frameshift 23/26 -
4-110909812-G-GG EGF c.2681_2681dup p.Tyr895Leufs*18 Frameshift 18/23 -
4-110908946-T-A EGF c.2538T>A p.Cys846* Nonsense 17/23 -
20-10630213-G-T JAG1 c.1305C>A p.Tyr435* Nonsense 10/26 -
20-10632799-G-T JAG1 c.986C>A p.Ser329* Nonsense 7/26 -
20-10626039-C-T JAG1 c.2078G>A p.Cys693Tyr Missense 16/26 -
20-10625579-C-A JAG1 c.2276G>T p.Cys759Phe Missense 18/26 -
20-10621874-T-TT JAG1 c.2935_2935dup p.Ile979Asnfs*4 Frameshift 24/26 -
20-10637047-T-C JAG1 c.754A>G p.Arg252Gly Missense 5/26 -
20-10621467-AC-A JAG1 c.3163delG p.Val1055*fs*1 Frameshift 25/26 -
20-10622435-G-T JAG1 c.2678C>A p.Ser893* Nonsense 22/26 -
4-110866394-T-TT EGF c.903_903dup p.Ala302Cysfs*8 Frameshift 5/23 -
20-10654113-CACAGAGCAGGGC-C JAG1 c.62_73del12 p.Leu21_leu24del InFrameDeletion 1/26 -
20-10625813-C-T JAG1 c.2205G>A p.Trp735* Nonsense 17/26 -
20-10621433-G-GG JAG1 c.3197_3197dup p.Asp1067Argfs*42 Frameshift 25/26 -
20-10653515-T-C JAG1 c.221A>G p.Tyr74Cys Missense 2/26 -
20-10639124-C-T JAG1 c.686G>A p.Cys229Tyr Missense 4/26 -
20-10628619-GG-G JAG1 c.1713delC p.Cys572Valfs*3 Frameshift 13/26 -
20-10630940-T-A JAG1 c.1189A>T p.Lys397* Nonsense 9/26 -
20-10628614-CAG-C JAG1 c.1713_1714delCT p.Cys572*fs*1 Frameshift 13/26 -
20-10653400-G-GG JAG1 c.337dupC p.Arg113Profs*31 Frameshift 2/26 -
20-10654105-TCGCAGGGCACAG-T JAG1 c.63_74del12 p.Cys22_arg25del InFrameDeletion 1/26 -
20-10639296-G-A JAG1 c.514C>T p.Gln172* Nonsense 4/26 -
20-10630938-AC-A JAG1 c.1191delG p.Lys397Asnfs*15 Frameshift 9/26 -
20-10653504-A-G JAG1 c.232T>C p.Cys78Arg Missense 2/26 -
20-10653638-C-T JAG1 c.98G>A p.Gly33Asp Missense 2/26 -
20-10653638-C-A JAG1 c.98G>T p.Gly33Val Missense 2/26 -
20-10629312-CTC-C JAG1 c.1459_1460delGA p.Asp487Hisfs*3 Frameshift 12/26 -
20-10622254-G-A JAG1 c.2770C>T p.Gln924* Nonsense 23/26 -
20-10639230-A-AA JAG1 c.582_582dup p.Gly195Trpfs*4 Frameshift 4/26 -
20-10629315-ACA-A JAG1 c.1452_1453delTG p.Cys484*fs*1 Frameshift 12/26 -
20-10622337-C-T JAG1 c.2687G>A p.Trp896* Nonsense 23/26 -
20-10628663-A-C JAG1 c.1665T>G p.Tyr555* Nonsense 13/26 -
20-10632884-C-CC JAG1 c.903_903dup p.Thr302Aspfs*12 Frameshift 7/26 -
20-10625896-G-A JAG1 c.2122C>T p.Gln708* Nonsense 17/26 -
20-10622527-A-AA JAG1 c.2587_2587dupT p.Cys863Leufs*16 Frameshift 22/26 -
4-110925774-CCTTG-C EGF c.3164_3167delCTTG - SpliceDonorDeletion 21/23 -
20-10653440-CGTGGACC-C JAG1 c.291_297delGTCCACG p.Ser98Leufs*61 Frameshift 2/26 -
4-110915998-TG-T EGF c.2844delG p.Cys949Alafs*28 Frameshift 19/23 -
20-10639347-C-G JAG1 c.463G>C p.Ala155Pro Missense 4/26 -
4-110929342-AA-A EGF c.3203delA p.Asn1068Metfs*52 Frameshift 22/23 -
20-10623221-A-T JAG1 c.2487T>A p.Cys829* Nonsense 21/26 -
20-10630922-G-A JAG1 c.1207C>T p.Gln403* Nonsense 9/26 -
20-10654129-A-G JAG1 c.50T>C p.Leu17Pro Missense 1/26 -
20-10622336-C-T JAG1 c.2688G>A p.Trp896* Nonsense 23/26 -
20-10653574-GC-TT JAG1 c.161_162delinsAA p.Cys54* Missense 2/26 -
20-10629347-A-AA JAG1 c.1419_1419dup p.Ile474Tyrfs*12 Frameshift 12/26 -
20-10633191-A-G JAG1 c.811T>C p.Cys271Arg Missense 6/26 -
4-110885579-TTG-T EGF c.1461_1462delTG p.Ala488Glnfs*11 Frameshift 10/23 -
20-10622203-AGACTGGA-A JAG1 c.2820_2826delTCTCCAG p.Leu941Argfs*2 Frameshift 23/26 -
4-110882083-GG-G EGF c.1127delG p.Gly376Aspfs*9 Frameshift 7/23 -
20-10627671-GG-G JAG1 c.1802delC p.Pro601Leufs*142 Frameshift 14/26 -
3-158402350-GG-G GFM1 c.1802delG p.Gly601Valfs*55 Frameshift 15/18 -
20-10625793-TAT-T JAG1 c.2225_2226delTA - SpliceDonorDeletion 17/26 -
20-10626057-T-TA JAG1 c.2059_2060insT p.Asn687Ilefs*2 Frameshift 16/26 -
20-10653461-C-T JAG1 c.275G>A p.Cys92Tyr Missense 2/26 -