NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)
|
rs769531968
|
0.00001
|
JAG1, 1329, T-G, +2
|
|
|
NC_000020.10:g.(?_10653329)_(10654278_?)del
|
|
|
NC_000020.11:g.10641783dup
|
rs2122597170
|
|
NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del
|
|
|
NM_000214.3(JAG1):c.1007-2A>G
|
rs2122613705
|
|
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.1057G>T (p.Glu353Ter)
|
rs1600185499
|
|
NM_000214.3(JAG1):c.107del (p.Glu36fs)
|
|
|
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)
|
|
|
NM_000214.3(JAG1):c.1188dup (p.Lys397Ter)
|
|
|
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter)
|
|
|
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.1232T>A (p.Leu411Ter)
|
rs2067336398
|
|
NM_000214.3(JAG1):c.123del (p.Met42fs)
|
|
|
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter)
|
|
|
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.1353dup (p.Asn452Ter)
|
rs1060501347
|
|
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)
|
|
|
NM_000214.3(JAG1):c.1363del (p.Gly456fs)
|
rs2122609680
|
|
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)
|
rs1289016419
|
|
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.142G>T (p.Glu48Ter)
|
rs1600196580
|
|
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)
|
|
|
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.1470_1472dup (p.Cys491Ter)
|
|
|
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.1563_1564del (p.Cys522fs)
|
rs2067324506
|
|
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter)
|
|
|
NM_000214.3(JAG1):c.1601del (p.Cys534fs)
|
rs2067321711
|
|
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter)
|
|
|
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
|
|
|
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)
|
|
|
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter)
|
rs2122607723
|
|
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer)
|
rs2122607689
|
|
NM_000214.3(JAG1):c.1713del (p.Cys572fs)
|
|
|
NM_000214.3(JAG1):c.1713dup (p.Cys572fs)
|
rs1555828546
|
|
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.1764dup (p.Glu589Ter)
|
|
|
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter)
|
rs2122606277
|
|
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)
|
|
|
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.1899_1900del (p.Cys633_Glu634delinsTer)
|
rs1555828321
|
|
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter)
|
|
|
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
|
|
|
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)
|
rs1600182107
|
|
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
|
|
|
NM_000214.3(JAG1):c.2026del (p.Cys676fs)
|
|
|
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer)
|
rs2067301859
|
|
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)
|
rs886039393
|
|
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)
|
|
|
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.2172_2173dup (p.Asp725fs)
|
rs1568794128
|
|
NM_000214.3(JAG1):c.2173dup (p.Asp725fs)
|
rs1568794128
|
|
NM_000214.3(JAG1):c.217dup (p.Thr73fs)
|
|
|
NM_000214.3(JAG1):c.2209G>T (p.Gly737Ter)
|
rs2122602893
|
|
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)
|
rs863223655
|
|
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)
|
|
|
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)
|
rs755427292
|
|
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.2341C>T (p.Gln781Ter)
|
|
|
NM_000214.3(JAG1):c.2342dup (p.Asn782fs)
|
rs886039887
|
|
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter)
|
rs1189479619
|
|
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)
|
|
|
NM_000214.3(JAG1):c.2412C>A (p.Tyr804Ter)
|
rs2122600550
|
|
NM_000214.3(JAG1):c.2415del (p.Cys806fs)
|
|
|
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)
|
rs533306015
|
|
NM_000214.3(JAG1):c.2458+1G>A
|
rs2122600431
|
|
NM_000214.3(JAG1):c.2458+2_2458+4del
|
|
|
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter)
|
rs1437309558
|
|
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)
|
|
|
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs)
|
rs1600179892
|
|
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)
|
rs1600179855
|
|
NM_000214.3(JAG1):c.2572+1G>C
|
|
|
NM_000214.3(JAG1):c.2572+1G>T
|
|
|
NM_000214.3(JAG1):c.2575dup (p.Ser859fs)
|
|
|
NM_000214.3(JAG1):c.2595dup (p.Met866fs)
|
|
|
NM_000214.3(JAG1):c.2611_2612delinsTG (p.Pro871Ter)
|
rs2122597347
|
|
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.2640dup (p.Asn881Ter)
|
|
|
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter)
|
rs2122597239
|
|
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter)
|
rs1060501350
|
|
NM_000214.3(JAG1):c.2690dup (p.Cys897fs)
|
rs2067273607
|
|
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)
|
rs1555827789
|
|
NM_000214.3(JAG1):c.270dup (p.Pro91fs)
|
rs863223667
|
|
NM_000214.3(JAG1):c.273del (p.Cys92fs)
|
rs2122644538
|
|
NM_000214.3(JAG1):c.2759_2766del (p.Ile920fs)
|
|
|
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs)
|
rs1555827769
|
|
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)
|
|
|
NM_000214.3(JAG1):c.2966dup (p.Leu989fs)
|
rs1555827729
|
|
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter)
|
rs2067268487
|
|
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
|
|
|
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_3012dup (p.Pro1006fs)
|
rs1600178730
|
|
NM_000214.3(JAG1):c.3039dup (p.Val1014fs)
|
rs2122595645
|
|
NM_000214.3(JAG1):c.3049-2A>G
|
rs2122595262
|
|
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs)
|
|
|
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter)
|
rs2122595154
|
|
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)
|
rs1555827653
|
|
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs)
|
rs2122595010
|
|
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs)
|
rs1555827650
|
|
NM_000214.3(JAG1):c.3196_3200del (p.Thr1066fs)
|
rs2067265104
|
|
NM_000214.3(JAG1):c.3197dup (p.Asp1067fs)
|
|
|
NM_000214.3(JAG1):c.3203del (p.Phe1068fs)
|
rs2122593684
|
|
NM_000214.3(JAG1):c.341del (p.Gly114fs)
|
|
|
NM_000214.3(JAG1):c.3452del (p.Thr1151fs)
|
|
|
NM_000214.3(JAG1):c.349del (p.Arg117fs)
|
|
|
NM_000214.3(JAG1):c.350del (p.Arg117fs)
|
rs1555830929
|
|
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)
|
|
|
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)
|
rs886039724
|
|
NM_000214.3(JAG1):c.388-2A>C
|
rs2067434947
|
|
NM_000214.3(JAG1):c.390dup (p.Ser131fs)
|
rs886044111
|
|
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)
|
|
|
NM_000214.3(JAG1):c.439+1G>A
|
rs863223648
|
|
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)
|
rs886043606
|
|
NM_000214.3(JAG1):c.443del (p.Pro148fs)
|
|
|
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)
|
|
|
NM_000214.3(JAG1):c.532del (p.His178fs)
|
rs2067394045
|
|
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)
|
rs1060501351
|
|
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.622G>T (p.Gly208Ter)
|
rs2122623590
|
|
NM_000214.3(JAG1):c.655dup (p.Thr219fs)
|
rs2122623531
|
|
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe)
|
|
|
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.703C>T (p.Arg235Ter)
|
rs876660980
|
|
NM_000214.3(JAG1):c.715dup (p.Ser239fs)
|
|
|
NM_000214.3(JAG1):c.734dup (p.Cys245fs)
|
rs2122620277
|
|
NM_000214.3(JAG1):c.73_74del (p.Arg25fs)
|
rs2067513100
|
|
NM_000214.3(JAG1):c.74dup (p.Ala26fs)
|
|
|
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)
|
|
|
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter)
|
|
|
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
|
|
|
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter)
|
rs2122615158
|
|
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)
|
|
|
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)
|
rs886043603
|
|
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)
|
|
|
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)
|
|
|
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)
|
|
|
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)
|
rs2122644940
|
|
NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter)
|
|
|
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter)
|
rs2122614368
|
|
NM_000214.3(JAG1):c.98G>T (p.Gly33Val)
|
rs2122644925
|
|