NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_000214.3(JAG1):c.*253C>T
|
rs780887274
|
0.00014
|
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)
|
rs143966918
|
0.00014
|
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)
|
rs368438076
|
0.00012
|
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)
|
rs563232654
|
0.00011
|
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)
|
rs149419694
|
0.00011
|
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)
|
rs767826365
|
0.00007
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)
|
rs140330283
|
0.00006
|
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
|
rs376092818
|
0.00006
|
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)
|
rs909905245
|
0.00006
|
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
|
rs138007561
|
0.00006
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)
|
rs376089631
|
0.00005
|
NM_000214.3(JAG1):c.521C>T (p.Thr174Met)
|
rs144999773
|
0.00005
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)
|
rs149949294
|
0.00004
|
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)
|
rs142742183
|
0.00004
|
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)
|
rs372904306
|
0.00004
|
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)
|
rs760332763
|
0.00004
|
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)
|
rs373260040
|
0.00004
|
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
|
rs770377023
|
0.00003
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)
|
rs769242977
|
0.00003
|
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)
|
rs755047447
|
0.00003
|
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser)
|
rs372558458
|
0.00002
|
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)
|
rs758876727
|
0.00002
|
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)
|
rs1327002160
|
0.00002
|
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)
|
rs547676061
|
0.00002
|
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)
|
rs750855317
|
0.00002
|
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser)
|
rs199561320
|
0.00002
|
NM_000214.3(JAG1):c.2227+5C>G
|
rs371127863
|
0.00002
|
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)
|
rs368032094
|
0.00002
|
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)
|
rs750570683
|
0.00002
|
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys)
|
rs1452242699
|
0.00002
|
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)
|
rs758788135
|
0.00002
|
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln)
|
rs1600185499
|
0.00001
|
NM_000214.3(JAG1):c.1064C>T (p.Ser355Phe)
|
rs1235681626
|
0.00001
|
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu)
|
rs1568807505
|
0.00001
|
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met)
|
rs773039210
|
0.00001
|
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)
|
rs755648887
|
0.00001
|
NM_000214.3(JAG1):c.1346T>A (p.Ile449Lys)
|
rs1465136716
|
0.00001
|
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
|
rs534533867
|
0.00001
|
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln)
|
rs558315798
|
0.00001
|
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp)
|
rs753841056
|
0.00001
|
NM_000214.3(JAG1):c.1625A>G (p.Asn542Ser)
|
rs1221893646
|
0.00001
|
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys)
|
rs748384232
|
0.00001
|
NM_000214.3(JAG1):c.1792G>A (p.Val598Ile)
|
rs770729371
|
0.00001
|
NM_000214.3(JAG1):c.1859G>C (p.Gly620Ala)
|
rs752105789
|
0.00001
|
NM_000214.3(JAG1):c.2114G>A (p.Arg705His)
|
rs1320720578
|
0.00001
|
NM_000214.3(JAG1):c.2147A>G (p.Asn716Ser)
|
rs765705984
|
0.00001
|
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr)
|
rs1314917198
|
0.00001
|
NM_000214.3(JAG1):c.2342A>G (p.Gln781Arg)
|
rs2067296582
|
0.00001
|
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)
|
rs1308346607
|
0.00001
|
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)
|
rs1458651228
|
0.00001
|
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln)
|
rs774372899
|
0.00001
|
NM_000214.3(JAG1):c.2506G>A (p.Val836Met)
|
rs1429547453
|
0.00001
|
NM_000214.3(JAG1):c.2519A>G (p.Asn840Ser)
|
rs1568792705
|
0.00001
|
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)
|
rs111706668
|
0.00001
|
NM_000214.3(JAG1):c.2723A>G (p.His908Arg)
|
rs150243935
|
0.00001
|
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val)
|
rs747802983
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)
|
rs747142039
|
0.00001
|
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp)
|
rs1057516205
|
0.00001
|
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)
|
rs768823146
|
0.00001
|
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp)
|
rs537986153
|
0.00001
|
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)
|
rs2067258057
|
0.00001
|
NM_000214.3(JAG1):c.3311A>T (p.His1104Leu)
|
rs1788979891
|
0.00001
|
NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe)
|
rs142294152
|
0.00001
|
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys)
|
rs1362853052
|
0.00001
|
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)
|
rs1268561604
|
0.00001
|
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met)
|
rs533237399
|
0.00001
|
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)
|
rs1051571820
|
0.00001
|
NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala)
|
rs766368457
|
0.00001
|
NM_000214.3(JAG1):c.387G>A (p.Pro129=)
|
rs766008628
|
0.00001
|
NM_000214.3(JAG1):c.389G>A (p.Arg130Lys)
|
rs1409103181
|
0.00001
|
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn)
|
rs1456733889
|
0.00001
|
NM_000214.3(JAG1):c.4C>G (p.Arg2Gly)
|
rs984916696
|
0.00001
|
NM_000214.3(JAG1):c.694+3A>G
|
rs769581869
|
0.00001
|
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg)
|
rs1405610551
|
0.00001
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)
|
rs768317581
|
0.00001
|
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser)
|
rs1412480153
|
0.00001
|
NM_000214.3(JAG1):c.978G>A (p.Glu326=)
|
rs1480738447
|
0.00001
|
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp)
|
rs562158374
|
0.00001
|
NM_000214.3(JAG1):c.*1093_*1097del
|
rs886056509
|
|
NM_000214.3(JAG1):c.*1133_*1136del
|
rs886056508
|
|
NM_000214.3(JAG1):c.*1212_*1214del
|
rs886056507
|
|
NM_000214.3(JAG1):c.*1531TG[1]
|
rs765273169
|
|
NM_000214.3(JAG1):c.*644AAT[1]
|
rs572952606
|
|
NM_000214.3(JAG1):c.*959GTTT[2]
|
rs748163677
|
|
NM_000214.3(JAG1):c.-375dup
|
rs201660680
|
|
NM_000214.3(JAG1):c.-386dup
|
rs886056519
|
|
NM_000214.3(JAG1):c.-75A>G
|
rs1208905634
|
|
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro)
|
rs1555830973
|
|
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys)
|
|
|
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp)
|
|
|
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr)
|
|
|
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met)
|
rs2122613611
|
|
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp)
|
|
|
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser)
|
|
|
NM_000214.3(JAG1):c.1119A>G (p.Thr373=)
|
|
|
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val)
|
rs2122611687
|
|
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu)
|
|
|
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr)
|
|
|
NM_000214.3(JAG1):c.1155C>A (p.His385Gln)
|
rs531019589
|
|
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp)
|
|
|
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn)
|
rs2067508041
|
|
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu)
|
|
|
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu)
|
|
|
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln)
|
|
|
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)
|
rs144204614
|
|
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg)
|
rs2067336534
|
|
NM_000214.3(JAG1):c.1234+3A>G
|
|
|
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu)
|
rs1568796947
|
|
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys)
|
|
|
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr)
|
|
|
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys)
|
|
|
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe)
|
|
|
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly)
|
|
|
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly)
|
|
|
NM_000214.3(JAG1):c.1306T>C (p.Cys436Arg)
|
rs2122610484
|
|
NM_000214.3(JAG1):c.1308_1325del (p.Cys436_Gly441del)
|
rs2067332008
|
|
NM_000214.3(JAG1):c.1309G>C (p.Asp437His)
|
rs758876727
|
|
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser)
|
rs1187579730
|
|
NM_000214.3(JAG1):c.1322G>A (p.Gly441Asp)
|
rs2067332021
|
|
NM_000214.3(JAG1):c.1326G>T (p.Trp442Cys)
|
rs794726974
|
|
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val)
|
rs2122610344
|
|
NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del)
|
rs1345611817
|
|
NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn)
|
|
|
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg)
|
|
|
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
|
rs937263997
|
|
NM_000214.3(JAG1):c.1396-3T>C
|
|
|
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg)
|
|
|
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del)
|
rs754284753
|
|
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr)
|
|
|
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)
|
rs370107709
|
|
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser)
|
|
|
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp)
|
|
|
NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys)
|
rs2067324770
|
|
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala)
|
|
|
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg)
|
|
|
NM_000214.3(JAG1):c.1570-3C>A
|
|
|
NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn)
|
|
|
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr)
|
|
|
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp)
|
rs2122607889
|
|
NM_000214.3(JAG1):c.1606A>C (p.Asn536His)
|
|
|
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys)
|
|
|
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg)
|
|
|
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
|
|
|
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser)
|
|
|
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys)
|
|
|
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn)
|
|
|
NM_000214.3(JAG1):c.1696C>G (p.His566Asp)
|
rs927278875
|
|
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile)
|
|
|
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg)
|
|
|
NM_000214.3(JAG1):c.1720+3A>G
|
rs1555828541
|
|
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr)
|
rs2067314756
|
|
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu)
|
|
|
NM_000214.3(JAG1):c.1744A>G (p.Met582Val)
|
rs2067314648
|
|
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp)
|
|
|
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser)
|
rs1321273663
|
|
NM_000214.3(JAG1):c.1806C>G (p.His602Gln)
|
|
|
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val)
|
rs2122606183
|
|
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg)
|
|
|
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg)
|
rs1009426924
|
|
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val)
|
rs752105789
|
|
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr)
|
|
|
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp)
|
rs1261301855
|
|
NM_000214.3(JAG1):c.191_192delinsAG (p.Arg64Gln)
|
rs2122644702
|
|
NM_000214.3(JAG1):c.1921G>A (p.Gly641Ser)
|
|
|
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg)
|
|
|
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His)
|
|
|
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg)
|
|
|
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro)
|
rs763048289
|
|
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile)
|
rs2122604394
|
|
NM_000214.3(JAG1):c.1998C>T (p.Thr666=)
|
|
|
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala)
|
|
|
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser)
|
|
|
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu)
|
|
|
NM_000214.3(JAG1):c.2030A>C (p.His677Pro)
|
|
|
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn)
|
rs933125751
|
|
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly)
|
|
|
NM_000214.3(JAG1):c.2064C>G (p.Asp688Glu)
|
rs2122603442
|
|
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr)
|
rs1555828246
|
|
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg)
|
rs1568794319
|
|
NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser)
|
|
|
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala)
|
rs780243244
|
|
NM_000214.3(JAG1):c.20G>A (p.Arg7His)
|
|
|
NM_000214.3(JAG1):c.2113+5G>A
|
rs886044704
|
|
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn)
|
rs2122603091
|
|
NM_000214.3(JAG1):c.2123A>C (p.Gln708Pro)
|
|
|
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg)
|
|
|
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr)
|
rs2067300040
|
|
NM_000214.3(JAG1):c.2143A>C (p.Asn715His)
|
|
|
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn)
|
|
|
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg)
|
rs2067299833
|
|
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr)
|
rs2122602965
|
|
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly)
|
|
|
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp)
|
rs2122602901
|
|
NM_000214.3(JAG1):c.2228-13T>C
|
|
|
NM_000214.3(JAG1):c.2228-3T>G
|
|
|
NM_000214.3(JAG1):c.2228-6T>C
|
|
|
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn)
|
rs2122602515
|
|
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser)
|
rs2122644646
|
|
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala)
|
|
|
NM_000214.3(JAG1):c.2258G>T (p.Cys753Phe)
|
rs2122602473
|
|
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu)
|
rs1600196460
|
|
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp)
|
|
|
NM_000214.3(JAG1):c.2283C>T (p.Val761=)
|
|
|
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr)
|
rs149949294
|
|
NM_000214.3(JAG1):c.2319C>T (p.Gly773=)
|
rs2122602306
|
|
NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr)
|
|
|
NM_000214.3(JAG1):c.2344+6T>C
|
|
|
NM_000214.3(JAG1):c.2344+7G>A
|
|
|
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp)
|
|
|
NM_000214.3(JAG1):c.2345-8_2345-6del
|
rs1396652277
|
|
NM_000214.3(JAG1):c.2372+3_2372+6del
|
rs2067293629
|
|
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg)
|
rs56225585
|
|
NM_000214.3(JAG1):c.243G>C (p.Glu81Asp)
|
rs2067506800
|
|
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
|
|
|
NM_000214.3(JAG1):c.2458+4A>C
|
rs2122600423
|
|
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys)
|
|
|
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr)
|
|
|
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys)
|
rs2122644586
|
|
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val)
|
|
|
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
|
|
|
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser)
|
rs967515336
|
|
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys)
|
|
|
NM_000214.3(JAG1):c.2572+4T>C
|
|
|
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)
|
rs762121866
|
|
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg)
|
|
|
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala)
|
|
|
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser)
|
|
|
NM_000214.3(JAG1):c.2636A>G (p.Asp879Gly)
|
rs948733750
|
|
NM_000214.3(JAG1):c.2672C>T (p.Ala891Val)
|
|
|
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)
|
|
|
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn)
|
|
|
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro)
|
|
|
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln)
|
|
|
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis)
|
|
|
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala)
|
|
|
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)
|
rs1252730791
|
|
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr)
|
|
|
NM_000214.3(JAG1):c.2791A>C (p.Thr931Pro)
|
rs2067272394
|
|
NM_000214.3(JAG1):c.2797G>A (p.Val933Met)
|
rs2122596605
|
|
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp)
|
rs1568792060
|
|
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys)
|
|
|
NM_000214.3(JAG1):c.2807G>C (p.Cys936Ser)
|
|
|
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp)
|
rs779410593
|
|
NM_000214.3(JAG1):c.2866G>C (p.Asp956His)
|
|
|
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val)
|
rs1028081494
|
|
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del)
|
|
|
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp)
|
|
|
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile)
|
rs2067271012
|
|
NM_000214.3(JAG1):c.2914C>T (p.Pro972Ser)
|
rs2067270959
|
|
NM_000214.3(JAG1):c.2920C>G (p.Leu974Val)
|
|
|
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala)
|
|
|
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
|
|
|
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro)
|
rs1333355200
|
|
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr)
|
|
|
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr)
|
|
|
NM_000214.3(JAG1):c.2979_2980delinsTT (p.Ala994Ser)
|
rs2122595817
|
|
NM_000214.3(JAG1):c.297_298delinsCT (p.Pro100Ser)
|
rs2122644496
|
|
NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu)
|
|
|
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His)
|
|
|
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe)
|
|
|
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met)
|
|
|
NM_000214.3(JAG1):c.3002C>T (p.Ala1001Val)
|
rs2122595760
|
|
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)
|
rs781509375
|
|
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser)
|
rs2122595723
|
|
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg)
|
|
|
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly)
|
rs577307986
|
|
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser)
|
rs2067267863
|
|
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln)
|
|
|
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly)
|
rs2067267844
|
|
NM_000214.3(JAG1):c.3048+1G>A
|
rs876661121
|
|
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr)
|
rs1736644803
|
|
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn)
|
|
|
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu)
|
|
|
NM_000214.3(JAG1):c.307G>A (p.Gly103Arg)
|
rs749591256
|
|
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg)
|
rs749591256
|
|
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu)
|
|
|
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser)
|
|
|
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
|
|
|
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)
|
rs1278689263
|
|
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser)
|
rs1568806951
|
|
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr)
|
rs2067265410
|
|
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu)
|
|
|
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
|
|
|
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala)
|
rs2122594991
|
|
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser)
|
rs2067265121
|
|
NM_000214.3(JAG1):c.3206T>C (p.Leu1069Pro)
|
|
|
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile)
|
|
|
NM_000214.3(JAG1):c.322A>C (p.Asn108His)
|
rs1242473299
|
|
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile)
|
rs2067505956
|
|
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter)
|
|
|
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe)
|
|
|
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs)
|
rs2067258384
|
|
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala)
|
rs1600177820
|
|
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=)
|
|
|
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
|
|
|
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del)
|
rs771530161
|
|
NM_000214.3(JAG1):c.3287_3295dup (p.Arg1096_Lys1098dup)
|
rs771530161
|
|
NM_000214.3(JAG1):c.3293A>G (p.Lys1098Arg)
|
rs2067257938
|
|
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly)
|
|
|
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr)
|
rs763966262
|
|
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr)
|
rs1044765003
|
|
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp)
|
|
|
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)
|
rs150811951
|
|
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala)
|
|
|
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr)
|
rs371118939
|
|
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp)
|
|
|
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro)
|
rs2122593353
|
|
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr)
|
|
|
NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser)
|
rs769242977
|
|
NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys)
|
|
|
NM_000214.3(JAG1):c.343A>G (p.Asn115Asp)
|
rs2122644398
|
|
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro)
|
|
|
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro)
|
rs2122593151
|
|
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val)
|
|
|
NM_000214.3(JAG1):c.3478G>C (p.Asp1160His)
|
rs755047447
|
|
NM_000214.3(JAG1):c.347A>T (p.Asp116Val)
|
rs2067505703
|
|
NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu)
|
|
|
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)
|
rs752608779
|
|
NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg)
|
|
|
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile)
|
|
|
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys)
|
rs1479790705
|
|
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu)
|
|
|
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys)
|
rs1555830925
|
|
NM_000214.3(JAG1):c.3561C>G (p.Asn1187Lys)
|
rs754010868
|
|
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly)
|
|
|
NM_000214.3(JAG1):c.35G>A (p.Arg12His)
|
rs993180718
|
|
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp)
|
|
|
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn)
|
|
|
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val)
|
rs2122592834
|
|
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter)
|
rs769276255
|
|
NM_000214.3(JAG1):c.3638G>T (p.Arg1213Leu)
|
rs138007561
|
|
NM_000214.3(JAG1):c.368C>T (p.Pro123Leu)
|
rs2122644329
|
|
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg)
|
rs2067505361
|
|
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr)
|
rs930247415
|
|
NM_000214.3(JAG1):c.388-14T>A
|
|
|
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG
|
|
|
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser)
|
|
|
NM_000214.3(JAG1):c.406G>A (p.Val136Met)
|
|
|
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr)
|
|
|
NM_000214.3(JAG1):c.439+6T>A
|
rs2067434392
|
|
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser)
|
rs1355919795
|
|
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
|
|
|
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)
|
|
|
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser)
|
rs2067394475
|
|
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly)
|
|
|
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly)
|
rs749293754
|
|
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg)
|
rs2067394353
|
|
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys)
|
|
|
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala)
|
|
|
NM_000214.3(JAG1):c.524G>T (p.Gly175Val)
|
rs2122623743
|
|
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile)
|
|
|
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe)
|
|
|
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg)
|
|
|
NM_000214.3(JAG1):c.554T>A (p.Val185Glu)
|
rs2067393827
|
|
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg)
|
|
|
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp)
|
rs1242543124
|
|
NM_000214.3(JAG1):c.56C>T (p.Ala19Val)
|
rs886043988
|
|
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys)
|
rs2067393579
|
|
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr)
|
|
|
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser)
|
rs2122623617
|
|
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
|
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.61C>G (p.Leu21Val)
|
|
|
NM_000214.3(JAG1):c.627C>A (p.His209Gln)
|
|
|
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr)
|
|
|
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser)
|
|
|
NM_000214.3(JAG1):c.647G>T (p.Gly216Val)
|
|
|
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser)
|
|
|
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly)
|
|
|
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp)
|
|
|
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser)
|
rs2067513128
|
|
NM_000214.3(JAG1):c.694+3_694+4del
|
rs1235111413
|
|
NM_000214.3(JAG1):c.694+4T>C
|
rs944996400
|
|
NM_000214.3(JAG1):c.694+80A>G
|
|
|
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln)
|
rs1245693208
|
|
NM_000214.3(JAG1):c.708A>G (p.Gln236=)
|
rs2067379739
|
|
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn)
|
rs2067379682
|
|
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro)
|
rs1135401949
|
|
NM_000214.3(JAG1):c.725A>G (p.His242Arg)
|
|
|
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg)
|
rs2122620282
|
|
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg)
|
rs2122615195
|
|
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)
|
|
|
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr)
|
rs2067513063
|
|
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys)
|
|
|
NM_000214.3(JAG1):c.779T>C (p.Leu260Pro)
|
|
|
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr)
|
|
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NM_000214.3(JAG1):c.793T>G (p.Cys265Gly)
|
|
|
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser)
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|
NM_000214.3(JAG1):c.815T>A (p.Val272Asp)
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|
|
NM_000214.3(JAG1):c.820G>T (p.Gly274Cys)
|
rs2122615095
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NM_000214.3(JAG1):c.826T>C (p.Cys276Arg)
|
rs2067354186
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NM_000214.3(JAG1):c.838T>G (p.Trp280Gly)
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NM_000214.3(JAG1):c.850T>C (p.Cys284Arg)
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NM_000214.3(JAG1):c.851G>T (p.Cys284Phe)
|
rs1555829067
|
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NM_000214.3(JAG1):c.866G>A (p.Gly289Asp)
|
|
|
NM_000214.3(JAG1):c.866G>T (p.Gly289Val)
|
rs2122615016
|
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NM_000214.3(JAG1):c.86G>C (p.Cys29Ser)
|
rs1434161643
|
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NM_000214.3(JAG1):c.870C>T (p.Gly290=)
|
rs529032883
|
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NM_000214.3(JAG1):c.872A>T (p.Gln291Leu)
|
rs2122614980
|
|
NM_000214.3(JAG1):c.882C>A (p.Asp294Glu)
|
rs2122614970
|
|
NM_000214.3(JAG1):c.886+5G>A
|
rs1173329664
|
|
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro)
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|
|
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg)
|
rs750195672
|
|
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)
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|
|
NM_000214.3(JAG1):c.958T>C (p.Tyr320His)
|
rs2122614423
|
|
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg)
|
rs2067351426
|
|
NM_000214.3(JAG1):c.980G>C (p.Gly327Ala)
|
|
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NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr)
|
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