ClinVar Miner

List of variants in gene JAG1 reported as pathogenic

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2078G>A (p.Cys693Tyr) rs566563238 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000214.3(JAG1):c.694+1G>T rs876660979 0.00001
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
JAG1, 1329, T-G, +2
NC_000020.10:g.(?_10620146)_(10620623_?)del
NC_000020.10:g.(?_10653329)_(10654278_?)del
NC_000020.11:g.10641783dup rs2122597170
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs) rs1555830922
NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.1007-2A>G rs2122613705
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) rs1555830976
NM_000214.3(JAG1):c.1013del (p.His338fs) rs2067347502
NM_000214.3(JAG1):c.1025_1026del (p.Leu341_Ser342insTer) rs2067347395
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs) rs886043451
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1052del (p.Cys351fs) rs2514520753
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter) rs1600185499
NM_000214.3(JAG1):c.107del (p.Glu36fs) rs2514538133
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
NM_000214.3(JAG1):c.1084delinsGGCTTTGA (p.Cys362fs) rs2067346904
NM_000214.3(JAG1):c.1101dup (p.Gly368fs) rs2122613554
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1121_1122insTCCT (p.Ile375fs) rs2067337118
NM_000214.3(JAG1):c.1139del (p.Pro380fs) rs2122611660
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1181dup (p.Asn394fs) rs2514519192
NM_000214.3(JAG1):c.1188dup (p.Lys397Ter) rs2514519182
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter) rs2514519179
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1205del (p.Pro402fs) rs35615084
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter) rs794727953
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs) rs886044604
NM_000214.3(JAG1):c.1228C>T (p.Gln410Ter) rs2122611488
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter) rs2067336398
NM_000214.3(JAG1):c.123del (p.Met42fs) rs2514538103
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter) rs1261578129
NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter) rs764485729
NM_000214.3(JAG1):c.1312dup (p.Cys438fs) rs2122610459
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter) rs1568796883
NM_000214.3(JAG1):c.1326G>A (p.Trp442Ter) rs794726974
NM_000214.3(JAG1):c.1339del (p.Cys447fs)
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs) rs1555828770
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) rs1060501347
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter) rs2514517862
NM_000214.3(JAG1):c.1363del (p.Gly456fs) rs2122609680
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter) rs1555828721
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter) rs1289016419
NM_000214.3(JAG1):c.1375_1376dup (p.Gln459fs)
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer) rs2067328461
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.1396-2A>G rs1568796298
NM_000214.3(JAG1):c.1404dup (p.Asn469Ter)
NM_000214.3(JAG1):c.1424dup (p.Cys475fs) rs2514517294
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter) rs1600196580
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter) rs2067325167
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs) rs1568796241
NM_000214.3(JAG1):c.1448_1449del (p.His483fs) rs2122608890
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1459_1460del (p.Asp487fs) rs2514517243
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs) rs1555828652
NM_000214.3(JAG1):c.1470_1472dup (p.Cys491Ter) rs2514517227
NM_000214.3(JAG1):c.1473_1474del (p.Ala492fs) rs2514517223
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.1485del (p.Cys496fs) rs2122608799
NM_000214.3(JAG1):c.1489_1490dup (p.Leu497fs) rs2122608790
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) rs886039539
NM_000214.3(JAG1):c.1492_1495del (p.Asn498fs) rs1555828646
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer) rs886039696
NM_000214.3(JAG1):c.1522dup (p.Arg508fs) rs1555828640
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter) rs1568796158
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs) rs2067324506
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter) rs2514517120
NM_000214.3(JAG1):c.1601del (p.Cys534fs) rs2067321711
NM_000214.3(JAG1):c.1602C>A (p.Cys534Ter)
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter) rs2514516680
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) rs1555828577
NM_000214.3(JAG1):c.1627del (p.Arg543fs) rs2514516649
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter) rs2122607772
NM_000214.3(JAG1):c.1656del (p.Glu553fs) rs1568795820
NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter) rs759763539
NM_000214.3(JAG1):c.1657del (p.Glu553fs) rs2514516613
NM_000214.3(JAG1):c.165C>A (p.Cys55Ter) rs746259131
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter) rs2122607723
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) rs886041868
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer) rs2122607689
NM_000214.3(JAG1):c.1713del (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer) rs876661126
NM_000214.3(JAG1):c.1720+1del rs886044349
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu) rs2067320699
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu) rs2067320699
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg) rs2122606362
NM_000214.3(JAG1):c.173_176del (p.Ala58fs) rs886043130
NM_000214.3(JAG1):c.1763del (p.Pro588fs)
NM_000214.3(JAG1):c.1764dup (p.Glu589Ter) rs2514515688
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter) rs2122606277
NM_000214.3(JAG1):c.1794_1797del (p.Cys599fs)
NM_000214.3(JAG1):c.1806_1812del (p.Gly603fs)
NM_000214.3(JAG1):c.1813del (p.Cys605fs) rs2514515620
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter) rs979265484
NM_000214.3(JAG1):c.1829del (p.Gly610fs) rs2122606192
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs) rs1600182812
NM_000214.3(JAG1):c.1868dup (p.Thr624fs) rs2122606128
NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter) rs2122606113
NM_000214.3(JAG1):c.1890del (p.Asn631fs) rs2514514531
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.192dup (p.Lys65fs) rs863223666
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) rs863223682
NM_000214.3(JAG1):c.1948T>C (p.Ser650Pro) rs2122604480
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter) rs2514514448
NM_000214.3(JAG1):c.1955dup (p.Cys653fs) rs2122604461
NM_000214.3(JAG1):c.1961del (p.Ile654fs) rs2514514441
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter) rs1600182107
NM_000214.3(JAG1):c.1984del (p.Ala662fs) rs780475862
NM_000214.3(JAG1):c.2026del (p.Cys676fs) rs2514513693
NM_000214.3(JAG1):c.2039dup (p.Thr681fs) rs1555828250
NM_000214.3(JAG1):c.203dup (p.Asp69fs) rs1568807044
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer) rs2067301859
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) rs876661142
NM_000214.3(JAG1):c.2084dup (p.Asn695fs)
NM_000214.3(JAG1):c.2096_2097dup (p.Lys700fs)
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) rs863223680
NM_000214.3(JAG1):c.2113+1G>T rs1294950721
NM_000214.3(JAG1):c.2113+5G>C rs886044704
NM_000214.3(JAG1):c.2113del (p.Arg705fs) rs2514513551
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs) rs1568794159
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter) rs886044136
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2123_2124del (p.Gln708fs) rs2122603085
NM_000214.3(JAG1):c.2129dup (p.Asp710fs) rs2067300184
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.217dup (p.Thr73fs) rs2514537928
NM_000214.3(JAG1):c.2209G>T (p.Gly737Ter) rs2122602893
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs) rs1555828209
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.2270dup (p.Thr758fs) rs886043605
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs) rs2514512962
NM_000214.3(JAG1):c.228del (p.Val77fs) rs2067506937
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter) rs886043904
NM_000214.3(JAG1):c.2318del (p.Gly773fs) rs2122602312
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter) rs1555828173
NM_000214.3(JAG1):c.2323del (p.Glu775fs) rs2067296758
NM_000214.3(JAG1):c.2328dup (p.Pro777fs) rs2514512861
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter) rs2514512834
NM_000214.3(JAG1):c.2342dup (p.Asn782fs) rs886039887
NM_000214.3(JAG1):c.2345-1G>A rs1568793670
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter) rs1189479619
NM_000214.3(JAG1):c.2370del (p.Cys791fs) rs886042050
NM_000214.3(JAG1):c.2372+1G>T rs2067293664
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter) rs1600196443
NM_000214.3(JAG1):c.2406del (p.Trp803fs) rs2514511639
NM_000214.3(JAG1):c.2412C>A (p.Tyr804Ter) rs2122600550
NM_000214.3(JAG1):c.2415del (p.Cys806fs) rs2514511621
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2418del (p.Cys806fs) rs876661165
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter) rs1568793265
NM_000214.3(JAG1):c.243del (p.Glu81fs)
NM_000214.3(JAG1):c.2458+1G>A rs2122600431
NM_000214.3(JAG1):c.2458+2_2458+4del rs2514511557
NM_000214.3(JAG1):c.2458+2_2458+5del rs1568793232
NM_000214.3(JAG1):c.2465del (p.Asn822fs) rs863223673
NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter)
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) rs1437309558
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter) rs2514510500
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs) rs1600179892
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs) rs1600179847
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter) rs1600179855
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter) rs2122598522
NM_000214.3(JAG1):c.2547del (p.His850fs)
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) rs876661061
NM_000214.3(JAG1):c.2572+1G>C rs2514510396
NM_000214.3(JAG1):c.2572+1G>T rs2514510396
NM_000214.3(JAG1):c.2575dup (p.Ser859fs) rs2514509662
NM_000214.3(JAG1):c.2583dup (p.Pro862fs) rs2514509650
NM_000214.3(JAG1):c.2595dup (p.Met866fs) rs2514509626
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs) rs1568792344
NM_000214.3(JAG1):c.2611_2612delinsTG (p.Pro871Ter) rs2122597347
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) rs863223674
NM_000214.3(JAG1):c.2627G>A (p.Trp876Ter) rs2122597289
NM_000214.3(JAG1):c.2629dup (p.Asp877fs) rs2067274453
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer) rs1568792286
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer) rs1085307595
NM_000214.3(JAG1):c.2640dup (p.Asn881Ter) rs2514509543
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter) rs2122597239
NM_000214.3(JAG1):c.2682+1G>A
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter) rs1060501350
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs) rs1555827790
NM_000214.3(JAG1):c.2690_2694dup (p.Pro899fs) rs2514509349
NM_000214.3(JAG1):c.2690dup (p.Cys897fs) rs2067273607
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.269_270del (p.Gly90fs) rs863223667
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter) rs886043869
NM_000214.3(JAG1):c.270del (p.Cys92fs)
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs) rs1600179237
NM_000214.3(JAG1):c.2728G>T (p.Glu910Ter) rs368734792
NM_000214.3(JAG1):c.2728dup (p.Glu910fs) rs886042155
NM_000214.3(JAG1):c.273del (p.Cys92fs) rs2122644538
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter) rs1568792125
NM_000214.3(JAG1):c.2759_2766del (p.Ile920fs) rs2514509209
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs) rs1555827769
NM_000214.3(JAG1):c.2803G>T (p.Glu935Ter) rs753161584
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer) rs1555827760
NM_000214.3(JAG1):c.2840del (p.Lys947fs) rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter) rs2122596452
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) rs878853752
NM_000214.3(JAG1):c.2916+1G>C rs1568791920
NM_000214.3(JAG1):c.2917-1G>T rs2122595945
NM_000214.3(JAG1):c.2919del (p.Thr975fs) rs2514508523
NM_000214.3(JAG1):c.2922dup (p.Thr975fs)
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) rs863223683
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer) rs863223675
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter) rs876661182
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter) rs2067268487
NM_000214.3(JAG1):c.2992dup (p.Ile998fs)
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs) rs2514508367
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) rs2067268275
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs) rs2514508344
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3006_3024dup (p.Asn1009fs) rs2122595693
NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter) rs781509375
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs) rs1600178720
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs) rs863223676
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs) rs1600178730
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs) rs1555827717
NM_000214.3(JAG1):c.3039dup (p.Val1014fs) rs2122595645
NM_000214.3(JAG1):c.3042_3043insAAATGGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATGTG (p.Ala1015delinsLysTrpIleHisSerSerThrHisThrLeuSerGlnAspTer)
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.3049-2A>G rs2122595262
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs) rs2514507971
NM_000214.3(JAG1):c.3062del (p.Ile1021fs) rs876661095
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.30del (p.Arg12fs) rs1568807483
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter) rs2122595154
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) rs267605834
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs) rs2122595010
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs) rs1568791393
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs) rs1555827650
NM_000214.3(JAG1):c.3172C>T (p.Gln1058Ter) rs2514507762
NM_000214.3(JAG1):c.3196_3200del (p.Thr1066fs) rs2067265104
NM_000214.3(JAG1):c.3197dup (p.Asp1067fs) rs2514507703
NM_000214.3(JAG1):c.3203del (p.Phe1068fs) rs2122593684
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs) rs1568791022
NM_000214.3(JAG1):c.3215dup (p.Leu1072fs)
NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs) rs2067258421
NM_000214.3(JAG1):c.341del (p.Gly114fs) rs2514537708
NM_000214.3(JAG1):c.3452del (p.Thr1151fs) rs2514506380
NM_000214.3(JAG1):c.349del (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.350del (p.Arg117fs) rs1555830929
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr) rs2514537675
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000214.3(JAG1):c.384G>A (p.Trp128Ter) rs2122644306
NM_000214.3(JAG1):c.387+2T>C rs1555830919
NM_000214.3(JAG1):c.388-2A>C rs2067434947
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter)
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.408_409dup (p.Glu137fs) rs2067434779
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly) rs2514531153
NM_000214.3(JAG1):c.416G>A (p.Trp139Ter)
NM_000214.3(JAG1):c.41del (p.Leu14fs) rs1568807463
NM_000214.3(JAG1):c.438_439+2del rs2122632102
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.439+1G>C
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.443del (p.Pro148fs) rs2514526725
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter) rs1568801096
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter) rs2514526656
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter) rs1568801068
NM_000214.3(JAG1):c.514C>T (p.Gln172Ter) rs2514526624
NM_000214.3(JAG1):c.532del (p.His178fs) rs2067394045
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) rs1060501351
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) rs863223678
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.558_567del (p.Cys187fs) rs2067393679
NM_000214.3(JAG1):c.578del (p.Gly193fs) rs2067393549
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
NM_000214.3(JAG1):c.590dup (p.Asn197fs)
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter) rs2122623590
NM_000214.3(JAG1):c.648dup (p.Asn217fs) rs1131691963
NM_000214.3(JAG1):c.655dup (p.Thr219fs) rs2122623531
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe) rs2514526436
NM_000214.3(JAG1):c.664del (p.Glu222fs) rs863223665
NM_000214.3(JAG1):c.664dup (p.Glu222fs)
NM_000214.3(JAG1):c.682G>T (p.Glu228Ter) rs1286744339
NM_000214.3(JAG1):c.693_694del (p.Arg231fs) rs876660978
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.715dup (p.Ser239fs) rs2514524480
NM_000214.3(JAG1):c.734dup (p.Cys245fs) rs2122620277
NM_000214.3(JAG1):c.73C>T (p.Arg25Ter)
NM_000214.3(JAG1):c.73_74del (p.Arg25fs) rs2067513100
NM_000214.3(JAG1):c.74dup (p.Ala26fs) rs2514538931
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter) rs2514524411
NM_000214.3(JAG1):c.756-1G>T rs1568798388
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter) rs2514521818
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) rs1131695
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter) rs868134621
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter) rs2122615158
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter) rs2514521753
NM_000214.3(JAG1):c.797del (p.Ile266fs) rs863223668
NM_000214.3(JAG1):c.7dup (p.Ser3fs) rs863223662
NM_000214.3(JAG1):c.81+1G>A rs876661066
NM_000214.3(JAG1):c.82-2A>G rs1568807161
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.852_853del (p.Cys284_Glu285delinsTer) rs1568798289
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.87T>A (p.Cys29Ter) rs2514538159
NM_000214.3(JAG1):c.886+1G>A rs1600186024
NM_000214.3(JAG1):c.903dup (p.Thr302fs) rs2122614562
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.912del (p.Gln304fs) rs2514521362
NM_000214.3(JAG1):c.929del (p.Gly310fs) rs1555829039
NM_000214.3(JAG1):c.932del (p.Thr311fs) rs1555829037
NM_000214.3(JAG1):c.936T>A (p.Cys312Ter) rs2122614453
NM_000214.3(JAG1):c.941del (p.Asn314fs) rs2514521326
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter) rs2122644940
NM_000214.3(JAG1):c.962_964dup (p.Cys322Ter) rs1600185804
NM_000214.3(JAG1):c.974_975del (p.Pro325fs) rs863223669
NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter) rs2514521287
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter) rs2122614368
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter) rs1568798024
NM_000214.3(JAG1):c.98G>T (p.Gly33Val) rs2122644925
NM_000214.3(JAG1):c.99del (p.Gln34fs)

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