NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)
|
rs1051419
|
0.71278
|
NM_000214.3(JAG1):c.*1572A>G
|
rs8708
|
0.55702
|
NM_000214.3(JAG1):c.-385T>G
|
rs1051412
|
0.55267
|
NM_000214.3(JAG1):c.440-15T>C
|
rs2273060
|
0.42936
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
NM_000214.3(JAG1):c.*1132T>G
|
rs7828
|
0.27086
|
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)
|
rs1051421
|
0.22213
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
NM_000214.3(JAG1):c.2214A>C (p.Thr738=)
|
rs1801140
|
0.08364
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
NM_000214.3(JAG1):c.2382C>T (p.Ser794=)
|
rs56225585
|
0.07991
|
NM_000214.3(JAG1):c.-433G>A
|
rs73611723
|
0.07399
|
NM_000214.3(JAG1):c.744A>G (p.Pro248=)
|
rs10485741
|
0.06947
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NM_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_000214.3(JAG1):c.924C>T (p.Asn308=)
|
rs45575136
|
0.02367
|
NM_000214.3(JAG1):c.2766C>T (p.Asp922=)
|
rs2229895
|
0.01701
|
NM_000214.3(JAG1):c.436G>A (p.Val146Ile)
|
rs6040067
|
0.01238
|
NM_000214.3(JAG1):c.*756A>G
|
rs45534738
|
0.00635
|
NM_000214.3(JAG1):c.*619C>T
|
rs146144464
|
0.00491
|
NM_000214.3(JAG1):c.-384T>G
|
rs559044448
|
0.00399
|
NM_000214.2(JAG1):c.-514G>C
|
rs533596136
|
0.00192
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_000214.3(JAG1):c.909T>C (p.His303=)
|
rs139574260
|
0.00121
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_000214.3(JAG1):c.*1551C>T
|
rs760811504
|
0.00101
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
NM_000214.3(JAG1):c.1349-11T>G
|
rs80338240
|
0.00076
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00044
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
NM_000214.3(JAG1):c.894T>C (p.Asn298=)
|
rs149897344
|
0.00039
|
NM_000214.3(JAG1):c.*1637A>G
|
rs886056505
|
0.00037
|
NM_000214.3(JAG1):c.*1084G>C
|
rs148175963
|
0.00030
|
NM_000214.3(JAG1):c.*6C>T
|
rs376881523
|
0.00029
|
NM_000214.3(JAG1):c.2344+15C>G
|
rs200139177
|
0.00029
|
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=)
|
rs371805640
|
0.00026
|
NM_000214.3(JAG1):c.*297C>T
|
rs575525743
|
0.00025
|
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
|
rs138452567
|
0.00022
|
NM_000214.3(JAG1):c.2073T>C (p.Cys691=)
|
rs200648035
|
0.00019
|
NM_000214.3(JAG1):c.*914G>A
|
rs111277443
|
0.00016
|
NM_000214.3(JAG1):c.2979C>T (p.Ser993=)
|
rs542976402
|
0.00016
|
NM_000214.3(JAG1):c.1806C>T (p.His602=)
|
rs764290237
|
0.00015
|
NM_000214.3(JAG1):c.*253C>T
|
rs780887274
|
0.00014
|
NM_000214.3(JAG1):c.-42G>T
|
rs374222937
|
0.00014
|
NM_000214.3(JAG1):c.*641C>A
|
rs866626696
|
0.00013
|
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=)
|
rs142017684
|
0.00013
|
NM_000214.3(JAG1):c.526G>A (p.Val176Ile)
|
rs199674138
|
0.00013
|
NM_000214.3(JAG1):c.*1668A>C
|
rs943169809
|
0.00011
|
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)
|
rs150811951
|
0.00011
|
NM_000214.3(JAG1):c.2917-7G>A
|
rs201573066
|
0.00010
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
NM_000214.3(JAG1):c.1344C>T (p.Asp448=)
|
rs754081766
|
0.00007
|
NM_000214.3(JAG1):c.2517C>T (p.Ile839=)
|
rs560603550
|
0.00007
|
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile)
|
rs375200637
|
0.00007
|
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser)
|
rs751516838
|
0.00006
|
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)
|
rs201785359
|
0.00006
|
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)
|
rs140330283
|
0.00006
|
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp)
|
rs201608372
|
0.00006
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00006
|
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=)
|
rs141439542
|
0.00006
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
0.00006
|
NM_000214.3(JAG1):c.756-14C>T
|
rs757351921
|
0.00006
|
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)
|
rs775363555
|
0.00005
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
NM_000214.3(JAG1):c.*1493A>G
|
rs78471165
|
0.00004
|
NM_000214.3(JAG1):c.*970T>C
|
rs886056510
|
0.00004
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
|
rs755427292
|
0.00004
|
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)
|
rs142742183
|
0.00004
|
NM_000214.3(JAG1):c.3168A>C (p.Arg1056Ser)
|
rs146006022
|
0.00004
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
NM_000214.3(JAG1):c.439+9C>T
|
rs374350782
|
0.00004
|
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
|
rs758687380
|
0.00003
|
NM_000214.3(JAG1):c.48C>A (p.Leu16=)
|
rs901489977
|
0.00003
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
NM_000214.3(JAG1):c.282C>T (p.Phe94=)
|
rs772592163
|
0.00002
|
NM_000214.3(JAG1):c.3200-12C>T
|
rs754439203
|
0.00002
|
NM_000214.3(JAG1):c.388-4G>C
|
rs567027490
|
0.00002
|
NM_000214.2(JAG1):c.-482G>A
|
rs886056520
|
0.00001
|
NM_000214.2(JAG1):c.-507G>A
|
rs747888489
|
0.00001
|
NM_000214.3(JAG1):c.*1224G>A
|
rs886056506
|
0.00001
|
NM_000214.3(JAG1):c.*1612G>A
|
rs998342074
|
0.00001
|
NM_000214.3(JAG1):c.*18C>T
|
rs1160652210
|
0.00001
|
NM_000214.3(JAG1):c.*21C>T
|
rs554327524
|
0.00001
|
NM_000214.3(JAG1):c.*521T>C
|
rs755826715
|
0.00001
|
NM_000214.3(JAG1):c.*881C>T
|
rs1191747708
|
0.00001
|
NM_000214.3(JAG1):c.-129C>T
|
rs886056516
|
0.00001
|
NM_000214.3(JAG1):c.1377G>C (p.Gln459His)
|
rs762746994
|
0.00001
|
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp)
|
rs1337206941
|
0.00001
|
NM_000214.3(JAG1):c.1721-15A>G
|
rs753524030
|
0.00001
|
NM_000214.3(JAG1):c.1791C>T (p.Asn597=)
|
rs145910804
|
0.00001
|
NM_000214.3(JAG1):c.2000-14C>G
|
rs777011001
|
0.00001
|
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn)
|
rs761640153
|
0.00001
|
NM_000214.3(JAG1):c.2445C>T (p.Pro815=)
|
rs777122869
|
0.00001
|
NM_000214.3(JAG1):c.2817C>T (p.Ser939=)
|
rs1180418350
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.303C>T (p.Val101=)
|
rs1212837838
|
0.00001
|
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln)
|
rs773538545
|
0.00001
|
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)
|
rs748849177
|
0.00001
|
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn)
|
rs768642155
|
0.00001
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
NM_000214.3(JAG1):c.755+15C>T
|
rs761987251
|
0.00001
|
NM_000214.2(JAG1):c.-483C>T
|
rs867504722
|
|
NM_000214.3(JAG1):c.*1093_*1097del
|
rs886056509
|
|
NM_000214.3(JAG1):c.*1133_*1136del
|
rs886056508
|
|
NM_000214.3(JAG1):c.*1206del
|
rs34134142
|
|
NM_000214.3(JAG1):c.*1212_*1214del
|
rs886056507
|
|
NM_000214.3(JAG1):c.*1440A>G
|
rs2067244785
|
|
NM_000214.3(JAG1):c.*1511dup
|
rs571057258
|
|
NM_000214.3(JAG1):c.*1531TG[1]
|
rs765273169
|
|
NM_000214.3(JAG1):c.*378T>G
|
rs886056512
|
|
NM_000214.3(JAG1):c.*398T>C
|
rs562655817
|
|
NM_000214.3(JAG1):c.*401C>T
|
rs886056511
|
|
NM_000214.3(JAG1):c.*486del
|
rs3842434
|
|
NM_000214.3(JAG1):c.*563_*565del
|
rs139536676
|
|
NM_000214.3(JAG1):c.*587T>C
|
rs2067250788
|
|
NM_000214.3(JAG1):c.*644AAT[1]
|
rs572952606
|
|
NM_000214.3(JAG1):c.*856dup
|
rs3840074
|
|
NM_000214.3(JAG1):c.*959GTTT[2]
|
rs748163677
|
|
NM_000214.3(JAG1):c.-105C>G
|
rs886056515
|
|
NM_000214.3(JAG1):c.-185G>C
|
rs1398348355
|
|
NM_000214.3(JAG1):c.-27C>G
|
rs886056513
|
|
NM_000214.3(JAG1):c.-299AAG[1]
|
rs147400796
|
|
NM_000214.3(JAG1):c.-364T>G
|
rs886056517
|
|
NM_000214.3(JAG1):c.-375dup
|
rs201660680
|
|
NM_000214.3(JAG1):c.-386dup
|
rs886056519
|
|
NM_000214.3(JAG1):c.-458C>T
|
rs146416672
|
|
NM_000214.3(JAG1):c.-465G>T
|
rs943315478
|
|
NM_000214.3(JAG1):c.-528C>A
|
rs191409481
|
|
NM_000214.3(JAG1):c.-6G>T
|
rs2067513848
|
|
NM_000214.3(JAG1):c.-73G>C
|
rs886056514
|
|
NM_000214.3(JAG1):c.-75A>G
|
rs1208905634
|
|
NM_000214.3(JAG1):c.1013A>G (p.His338Arg)
|
rs2067347480
|
|
NM_000214.3(JAG1):c.1023C>T (p.Leu341=)
|
rs1297627471
|
|
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp)
|
rs765431150
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.294C>T (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln)
|
rs781509375
|
|
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr)
|
rs763966262
|
|