|
NM_002834.5(PTPN11):c.1600-95C>T
|
rs3741983
|
0.37076
|
|
NM_002834.3(PTPN11):c.-273G>A
|
rs58805176
|
0.10884
|
|
NM_002834.5(PTPN11):c.*1006del
|
rs146940557
|
0.05739
|
|
NM_002834.5(PTPN11):c.14+25G>C
|
rs7972574
|
0.05545
|
|
NM_002834.5(PTPN11):c.854-21C>T
|
rs41279090
|
0.05308
|
|
NM_002834.5(PTPN11):c.14+54C>A
|
rs7973432
|
0.04259
|
|
NM_002834.5(PTPN11):c.1093-9C>A
|
rs12301915
|
0.04151
|
|
NM_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
|
NM_002834.5(PTPN11):c.*670G>A
|
rs112287134
|
0.01588
|
|
NM_002834.5(PTPN11):c.*801C>T
|
rs138246203
|
0.01271
|
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
|
NM_002834.5(PTPN11):c.854-30T>C
|
rs144391508
|
0.00909
|
|
NM_002834.5(PTPN11):c.854-32A>C
|
rs187389813
|
0.00867
|
|
NM_002834.5(PTPN11):c.*1374G>C
|
rs139266170
|
0.00836
|
|
NM_002834.5(PTPN11):c.*2927T>A
|
rs190612693
|
0.00828
|
|
NM_002834.5(PTPN11):c.*3043C>T
|
rs41307084
|
0.00647
|
|
NM_002834.5(PTPN11):c.*3006G>A
|
rs141870860
|
0.00646
|
|
NM_002834.5(PTPN11):c.757-69T>C
|
rs150087259
|
0.00468
|
|
NM_002834.5(PTPN11):c.*325G>A
|
rs192080780
|
0.00304
|
|
NM_002834.5(PTPN11):c.332+17T>G
|
rs115658366
|
0.00257
|
|
NM_002834.5(PTPN11):c.*775G>A
|
rs181946923
|
0.00230
|
|
NM_002834.5(PTPN11):c.*2078G>A
|
rs144513512
|
0.00193
|
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
|
NM_002834.5(PTPN11):c.-77G>A
|
rs766412799
|
0.00064
|
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
|
NM_002834.5(PTPN11):c.*799G>A
|
rs745319452
|
0.00062
|
|
NM_002834.5(PTPN11):c.*4019C>T
|
rs886048982
|
0.00051
|
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
|
NM_002834.5(PTPN11):c.1379+20C>T
|
rs184743462
|
0.00047
|
|
NM_002834.5(PTPN11):c.*3971A>G
|
rs572565511
|
0.00044
|
|
NM_002834.5(PTPN11):c.*2150G>T
|
rs756441720
|
0.00039
|
|
NM_002834.5(PTPN11):c.*838G>A
|
rs142648640
|
0.00035
|
|
NM_002834.5(PTPN11):c.*1805C>T
|
rs188162577
|
0.00033
|
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
|
NM_002834.5(PTPN11):c.932T>C (p.Met311Thr)
|
rs201226824
|
0.00028
|
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
|
NM_002834.5(PTPN11):c.*687C>T
|
rs748512308
|
0.00020
|
|
NM_002834.5(PTPN11):c.*1806G>A
|
rs766598691
|
0.00016
|
|
NM_002834.5(PTPN11):c.*720C>T
|
rs770605810
|
0.00015
|
|
NM_002834.5(PTPN11):c.*2731G>A
|
rs768622106
|
0.00013
|
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
|
NM_002834.5(PTPN11):c.*50C>T
|
rs730880328
|
0.00012
|
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
|
NM_002834.5(PTPN11):c.*2493C>T
|
rs886048977
|
0.00009
|
|
NM_002834.5(PTPN11):c.*2928A>T
|
rs565075386
|
0.00009
|
|
NM_002834.5(PTPN11):c.*802G>A
|
rs753900307
|
0.00009
|
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
|
NM_002834.5(PTPN11):c.1575A>G (p.Leu525=)
|
rs143801479
|
0.00009
|
|
NM_002834.5(PTPN11):c.486C>T (p.Asp162=)
|
rs397507522
|
0.00009
|
|
NM_002834.5(PTPN11):c.756+9T>C
|
rs773222704
|
0.00009
|
|
NM_002834.5(PTPN11):c.1362G>A (p.Pro454=)
|
rs771967829
|
0.00008
|
|
NM_002834.5(PTPN11):c.1599+33A>G
|
rs727505380
|
0.00008
|
|
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)
|
rs139188627
|
0.00008
|
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
|
NM_002834.5(PTPN11):c.*3231T>G
|
rs769489372
|
0.00006
|
|
NM_002834.5(PTPN11):c.*64C>G
|
rs763895470
|
0.00006
|
|
NM_002834.5(PTPN11):c.*740C>T
|
rs886048969
|
0.00006
|
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
|
NM_002834.5(PTPN11):c.137+35G>A
|
rs727505387
|
0.00006
|
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
|
NM_002834.5(PTPN11):c.426C>T (p.Ser142=)
|
rs199498784
|
0.00006
|
|
NM_002834.5(PTPN11):c.616T>C (p.Leu206=)
|
rs78376169
|
0.00006
|
|
NM_002834.5(PTPN11):c.853+17C>T
|
rs746692191
|
0.00006
|
|
NM_002834.5(PTPN11):c.854-18G>C
|
rs753683974
|
0.00006
|
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
|
NM_002834.5(PTPN11):c.1143C>T (p.Gly381=)
|
rs781677115
|
0.00004
|
|
NM_002834.5(PTPN11):c.1278C>T (p.His426=)
|
rs886038519
|
0.00004
|
|
NM_002834.5(PTPN11):c.14+11C>A
|
rs1486505121
|
0.00004
|
|
NM_002834.5(PTPN11):c.1683G>A (p.Pro561=)
|
rs397516798
|
0.00004
|
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
|
NM_002834.5(PTPN11):c.332+18G>T
|
rs1015260760
|
0.00004
|
|
NM_002834.5(PTPN11):c.854-19T>G
|
rs751780145
|
0.00004
|
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
|
NM_002834.5(PTPN11):c.*3381A>G
|
rs374962107
|
0.00003
|
|
NM_002834.5(PTPN11):c.*3720T>C
|
rs886048981
|
0.00003
|
|
NM_002834.5(PTPN11):c.1092+9C>T
|
rs374768093
|
0.00003
|
|
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)
|
rs774356443
|
0.00003
|
|
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)
|
rs397507536
|
0.00003
|
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
|
NM_002834.5(PTPN11):c.1379+6A>G
|
rs746958309
|
0.00003
|
|
NM_002834.5(PTPN11):c.138-4T>G
|
rs959868124
|
0.00003
|
|
NM_002834.5(PTPN11):c.1404G>C (p.Thr468=)
|
rs587781130
|
0.00003
|
|
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro)
|
rs1057517907
|
0.00003
|
|
NM_002834.5(PTPN11):c.540C>T (p.Asp180=)
|
rs753269427
|
0.00003
|
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
|
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)
|
rs727503381
|
0.00003
|
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
|
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu)
|
rs376607329
|
0.00003
|
|
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)
|
rs397507528
|
0.00003
|
|
NM_002834.5(PTPN11):c.879C>T (p.His293=)
|
rs117730996
|
0.00003
|
|
NM_002834.3(PTPN11):c.-245C>G
|
rs886048963
|
0.00002
|
|
NM_002834.5(PTPN11):c.*1588C>G
|
rs886048974
|
0.00002
|
|
NM_002834.5(PTPN11):c.*1616C>T
|
rs1340461859
|
0.00002
|
|
NM_002834.5(PTPN11):c.*1830G>A
|
rs1399608679
|
0.00002
|
|
NM_002834.5(PTPN11):c.*2608C>T
|
rs1009588224
|
0.00002
|
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
|
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile)
|
rs749523268
|
0.00002
|
|
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met)
|
rs767503386
|
0.00002
|
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
|
NM_002834.5(PTPN11):c.1345A>G (p.Ile449Val)
|
rs746112827
|
0.00002
|
|
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile)
|
rs781083623
|
0.00002
|
|
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=)
|
rs727504377
|
0.00002
|
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
|
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val)
|
rs767712281
|
0.00002
|
|
NM_002834.5(PTPN11):c.327T>G (p.Ser109=)
|
rs1039250039
|
0.00002
|
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
|
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala)
|
rs376027245
|
0.00002
|
|
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser)
|
rs730880992
|
0.00002
|
|
NM_002834.5(PTPN11):c.768A>G (p.Gln256=)
|
rs775232682
|
0.00002
|
|
NM_002834.5(PTPN11):c.793C>A (p.Arg265=)
|
rs766531368
|
0.00002
|
|
NM_002834.5(PTPN11):c.*1038G>A
|
rs931986581
|
0.00001
|
|
NM_002834.5(PTPN11):c.*1332G>A
|
rs886048973
|
0.00001
|
|
NM_002834.5(PTPN11):c.*1419G>A
|
rs1435419771
|
0.00001
|
|
NM_002834.5(PTPN11):c.*1520C>T
|
rs953487891
|
0.00001
|
|
NM_002834.5(PTPN11):c.*2096T>G
|
rs547373116
|
0.00001
|
|
NM_002834.5(PTPN11):c.*2179C>T
|
rs1269783582
|
0.00001
|
|
NM_002834.5(PTPN11):c.*2540G>T
|
rs886048978
|
0.00001
|
|
NM_002834.5(PTPN11):c.*2907A>C
|
rs886048979
|
0.00001
|
|
NM_002834.5(PTPN11):c.*329T>C
|
rs576039073
|
0.00001
|
|
NM_002834.5(PTPN11):c.*3300T>C
|
rs886048980
|
0.00001
|
|
NM_002834.5(PTPN11):c.*474A>G
|
rs1198836111
|
0.00001
|
|
NM_002834.5(PTPN11):c.*682T>C
|
rs1223950825
|
0.00001
|
|
NM_002834.5(PTPN11):c.-71C>T
|
rs1463949594
|
0.00001
|
|
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro)
|
rs886041622
|
0.00001
|
|
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)
|
rs371951288
|
0.00001
|
|
NM_002834.5(PTPN11):c.1023T>C (p.Phe341=)
|
rs762516252
|
0.00001
|
|
NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)
|
rs535800148
|
0.00001
|
|
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)
|
rs1222504763
|
0.00001
|
|
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)
|
rs146571700
|
0.00001
|
|
NM_002834.5(PTPN11):c.1092+10A>G
|
rs758723402
|
0.00001
|
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
|
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)
|
rs370059077
|
0.00001
|
|
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg)
|
rs886041585
|
0.00001
|
|
NM_002834.5(PTPN11):c.1161C>T (p.Asn387=)
|
rs727505180
|
0.00001
|
|
NM_002834.5(PTPN11):c.1173C>T (p.Ser391=)
|
rs770730416
|
0.00001
|
|
NM_002834.5(PTPN11):c.1176C>T (p.Ala392=)
|
rs759533871
|
0.00001
|
|
NM_002834.5(PTPN11):c.1218T>C (p.Val406=)
|
rs1402095646
|
0.00001
|
|
NM_002834.5(PTPN11):c.1225-9C>T
|
rs377257792
|
0.00001
|
|
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)
|
rs1325353647
|
0.00001
|
|
NM_002834.5(PTPN11):c.1290C>A (p.Ser430Arg)
|
rs1178602062
|
0.00001
|
|
NM_002834.5(PTPN11):c.1311C>T (p.Asp437=)
|
rs757362412
|
0.00001
|
|
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met)
|
rs397516796
|
0.00001
|
|
NM_002834.5(PTPN11):c.1380-14C>G
|
rs193922657
|
0.00001
|
|
NM_002834.5(PTPN11):c.1380-5C>T
|
rs765455455
|
0.00001
|
|
NM_002834.5(PTPN11):c.1398A>G (p.Thr466=)
|
rs1271133312
|
0.00001
|
|
NM_002834.5(PTPN11):c.14+6G>A
|
rs1244171867
|
0.00001
|
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
|
NM_002834.5(PTPN11):c.1404G>A (p.Thr468=)
|
rs587781130
|
0.00001
|
|
NM_002834.5(PTPN11):c.1447+10C>T
|
rs1435448604
|
0.00001
|
|
NM_002834.5(PTPN11):c.1447+16G>T
|
rs375109762
|
0.00001
|
|
NM_002834.5(PTPN11):c.1448-4G>A
|
rs574215778
|
0.00001
|
|
NM_002834.5(PTPN11):c.1467C>T (p.Asp489=)
|
rs539373294
|
0.00001
|
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
|
NM_002834.5(PTPN11):c.15-19C>A
|
rs779587904
|
0.00001
|
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
|
NM_002834.5(PTPN11):c.1521A>G (p.Thr507=)
|
rs374285143
|
0.00001
|
|
NM_002834.5(PTPN11):c.1547T>C (p.Met516Thr)
|
rs994514579
|
0.00001
|
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
|
NM_002834.5(PTPN11):c.1599+26G>A
|
rs727505390
|
0.00001
|
|
NM_002834.5(PTPN11):c.1600-11C>G
|
rs1472156150
|
0.00001
|
|
NM_002834.5(PTPN11):c.1620C>T (p.His540=)
|
rs587781132
|
0.00001
|
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
|
NM_002834.5(PTPN11):c.1659G>A (p.Thr553=)
|
rs1381707337
|
0.00001
|
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
|
NM_002834.5(PTPN11):c.1676C>G (p.Pro559Arg)
|
rs1253971623
|
0.00001
|
|
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser)
|
rs746712068
|
0.00001
|
|
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met)
|
rs150730493
|
0.00001
|
|
NM_002834.5(PTPN11):c.1713-5T>A
|
rs876657964
|
0.00001
|
|
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr)
|
rs1415602777
|
0.00001
|
|
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)
|
rs886043790
|
0.00001
|
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
|
NM_002834.5(PTPN11):c.244A>G (p.Met82Val)
|
rs397507515
|
0.00001
|
|
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)
|
rs397507516
|
0.00001
|
|
NM_002834.5(PTPN11):c.34A>G (p.Thr12Ala)
|
rs1386827892
|
0.00001
|
|
NM_002834.5(PTPN11):c.376T>C (p.Leu126=)
|
rs146497890
|
0.00001
|
|
NM_002834.5(PTPN11):c.440T>G (p.Phe147Cys)
|
rs1179862540
|
0.00001
|
|
NM_002834.5(PTPN11):c.498A>G (p.Lys166=)
|
rs1007593261
|
0.00001
|
|
NM_002834.5(PTPN11):c.518G>A (p.Arg173His)
|
rs369155025
|
0.00001
|
|
NM_002834.5(PTPN11):c.526-9T>C
|
rs1284214136
|
0.00001
|
|
NM_002834.5(PTPN11):c.537C>T (p.Tyr179=)
|
rs141015445
|
0.00001
|
|
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)
|
rs1436513335
|
0.00001
|
|
NM_002834.5(PTPN11):c.583G>A (p.Glu195Lys)
|
rs1181200121
|
0.00001
|
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
|
NM_002834.5(PTPN11):c.643-7C>T
|
rs1555268066
|
0.00001
|
|
NM_002834.5(PTPN11):c.643-9C>T
|
rs750520685
|
0.00001
|
|
NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser)
|
rs768555552
|
0.00001
|
|
NM_002834.5(PTPN11):c.66A>G (p.Thr22=)
|
rs397516808
|
0.00001
|
|
NM_002834.5(PTPN11):c.757-5T>C
|
rs1442154422
|
0.00001
|
|
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)
|
rs777603059
|
0.00001
|
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
|
NM_002834.5(PTPN11):c.854-20G>A
|
rs756424880
|
0.00001
|
|
NM_002834.5(PTPN11):c.860A>C (p.His287Pro)
|
rs2038527071
|
0.00001
|
|
NM_002834.5(PTPN11):c.874C>T (p.Leu292=)
|
rs930267460
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
|
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu)
|
rs968167995
|
0.00001
|
|
NM_002834.5(PTPN11):c.951G>A (p.Lys317=)
|
rs576405446
|
0.00001
|
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
|
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)
|
rs1398859175
|
0.00001
|
|
NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr)
|
rs779400765
|
0.00001
|
|
NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr)
|
rs369430257
|
0.00001
|
|
NM_002834.5(PTPN11):c.996C>T (p.Gly332=)
|
rs397507533
|
0.00001
|
|
NC_000012.11:g.(?_112856896)_(112942588_?)dup
|
|
|
|
NC_000012.11:g.(?_112856916)_(112942568_?)dup
|
|
|
|
NC_000012.11:g.(?_112884060)_(112884222_?)del
|
|
|
|
NC_000012.11:g.(?_112909300)_(112915437_?)del
|
|
|
|
NC_000012.11:g.(?_112910728)_(112910864_?)del
|
|
|
|
NC_000012.11:g.(?_112910728)_(113008334_?)del
|
|
|
|
NC_000012.11:g.(?_112915449)_(112915825_?)del
|
|
|
|
NC_000012.11:g.(?_112919858)_(112920029_?)del
|
|
|
|
NC_000012.12:g.(?_112419092)_(112419145_?)dup
|
|
|
|
NC_000012.12:g.(?_112477651)_(112478015_?)del
|
|
|
|
NM_002834.3:c.1-140delG
|
|
|
|
NM_002834.4(PTPN11):c.-176G>T
|
rs919391557
|
|
|
NM_002834.4(PTPN11):c.-179G>C
|
rs545369072
|
|
|
NM_002834.5(PTPN11):c.*1015C>G
|
rs538946251
|
|
|
NM_002834.5(PTPN11):c.*1035A>G
|
rs886048970
|
|
|
NM_002834.5(PTPN11):c.*1157ATG[13]
|
rs80269561
|
|
|
NM_002834.5(PTPN11):c.*1157ATG[14]
|
rs80269561
|
|
|
NM_002834.5(PTPN11):c.*1157ATG[16]
|
rs80269561
|
|
|
NM_002834.5(PTPN11):c.*1157ATG[17]
|
rs80269561
|
|
|
NM_002834.5(PTPN11):c.*1536T>C
|
rs371375321
|
|
|
NM_002834.5(PTPN11):c.*1536T>G
|
rs371375321
|
|
|
NM_002834.5(PTPN11):c.*1729A>G
|
rs886048975
|
|
|
NM_002834.5(PTPN11):c.*1946G>A
|
rs886048976
|
|
|
NM_002834.5(PTPN11):c.*2629A>G
|
rs141655134
|
|
|
NM_002834.5(PTPN11):c.*2822A>G
|
rs1164863703
|
|
|
NM_002834.5(PTPN11):c.*3244A>G
|
rs763237386
|
|
|
NM_002834.5(PTPN11):c.*41_*46del
|
rs886048967
|
|
|
NM_002834.5(PTPN11):c.*656del
|
rs886048968
|
|
|
NM_002834.5(PTPN11):c.*673G>A
|
rs2038937189
|
|
|
NM_002834.5(PTPN11):c.*684G>A
|
rs1566194466
|
|
|
NM_002834.5(PTPN11):c.-139G>A
|
rs886048964
|
|
|
NM_002834.5(PTPN11):c.-151C>A
|
rs889190246
|
|
|
NM_002834.5(PTPN11):c.-161T>A
|
rs893158717
|
|
|
NM_002834.5(PTPN11):c.1008C>T (p.Asn336=)
|
rs2038532919
|
|
|
NM_002834.5(PTPN11):c.1017T>C (p.Asn339=)
|
|
|
|
NM_002834.5(PTPN11):c.1018G>T (p.Asp340Tyr)
|
rs2135901995
|
|
|
NM_002834.5(PTPN11):c.1027C>T (p.Arg343Trp)
|
rs1373621596
|
|
|
NM_002834.5(PTPN11):c.1032G>A (p.Met344Ile)
|
rs2038533623
|
|
|
NM_002834.5(PTPN11):c.1039C>A (p.Gln347Lys)
|
rs2038533750
|
|
|
NM_002834.5(PTPN11):c.103A>G (p.Lys35Glu)
|
rs934388335
|
|
|
NM_002834.5(PTPN11):c.1043A>T (p.Glu348Val)
|
rs1287780991
|
|
|
NM_002834.5(PTPN11):c.1049C>A (p.Ser350Tyr)
|
rs2135902093
|
|
|
NM_002834.5(PTPN11):c.104A>T (p.Lys35Ile)
|
|
|
|
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)
|
rs397507534
|
|
|
NM_002834.5(PTPN11):c.1057A>C (p.Ile353Leu)
|
rs752392909
|
|
|
NM_002834.5(PTPN11):c.1071G>C (p.Thr357=)
|
rs779125362
|
|
|
NM_002834.5(PTPN11):c.1075G>T (p.Glu359Ter)
|
rs2135902177
|
|
|
NM_002834.5(PTPN11):c.1078G>A (p.Val360Met)
|
|
|
|
NM_002834.5(PTPN11):c.1085G>A (p.Arg362Lys)
|
rs2135902194
|
|
|
NM_002834.5(PTPN11):c.1086A>G (p.Arg362=)
|
|
|
|
NM_002834.5(PTPN11):c.108T>C (p.Ser36=)
|
|
|
|
NM_002834.5(PTPN11):c.1091A>G (p.Lys364Arg)
|
rs988676659
|
|
|
NM_002834.5(PTPN11):c.1092+16T>C
|
|
|
|
NM_002834.5(PTPN11):c.1092+18C>A
|
|
|
|
NM_002834.5(PTPN11):c.1093-12G>T
|
rs2038604762
|
|
|
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg)
|
rs1566183223
|
|
|
NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)
|
|
|
|
NM_002834.5(PTPN11):c.1098A>G (p.Lys366=)
|
rs2135906673
|
|
|
NM_002834.5(PTPN11):c.10C>A (p.Arg4=)
|
rs886041517
|
|
|
NM_002834.5(PTPN11):c.1104C>T (p.Val368=)
|
|
|
|
NM_002834.5(PTPN11):c.1117G>A (p.Asp373Asn)
|
|
|
|
NM_002834.5(PTPN11):c.1121A>G (p.Glu374Gly)
|
|
|
|
NM_002834.5(PTPN11):c.1126G>A (p.Ala376Thr)
|
|
|
|
NM_002834.5(PTPN11):c.1129C>G (p.Leu377Val)
|
rs1322494804
|
|
|
NM_002834.5(PTPN11):c.1129C>T (p.Leu377=)
|
|
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
|
NM_002834.5(PTPN11):c.1147dup (p.Met383fs)
|
rs2038606313
|
|
|
NM_002834.5(PTPN11):c.1148T>C (p.Met383Thr)
|
rs1260386432
|
|
|
NM_002834.5(PTPN11):c.1150C>T (p.Arg384Cys)
|
|
|
|
NM_002834.5(PTPN11):c.1166A>G (p.Lys389Arg)
|
rs2038606620
|
|
|
NM_002834.5(PTPN11):c.1171A>G (p.Ser391Gly)
|
rs2135906878
|
|
|
NM_002834.5(PTPN11):c.1172G>A (p.Ser391Asn)
|
|
|
|
NM_002834.5(PTPN11):c.1177G>A (p.Ala393Thr)
|
|
|
|
NM_002834.5(PTPN11):c.117A>C (p.Gly39=)
|
rs779813529
|
|
|
NM_002834.5(PTPN11):c.1183G>T (p.Asp395Tyr)
|
|
|
|
NM_002834.5(PTPN11):c.1186T>C (p.Tyr396His)
|
|
|
|
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
|
|
|
|
NM_002834.5(PTPN11):c.1191G>T (p.Thr397=)
|
rs775571445
|
|
|
NM_002834.5(PTPN11):c.1198G>A (p.Glu400Lys)
|
|
|
|
NM_002834.5(PTPN11):c.11G>A (p.Arg4Gln)
|
|
|
|
NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)
|
|
|
|
NM_002834.5(PTPN11):c.1216G>A (p.Val406Ile)
|
rs1592850347
|
|
|
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)
|
rs532529560
|
|
|
NM_002834.5(PTPN11):c.1223A>G (p.Gln408Arg)
|
rs2038607572
|
|
|
NM_002834.5(PTPN11):c.1224+14C>T
|
|
|
|
NM_002834.5(PTPN11):c.1224+7A>G
|
|
|
|
NM_002834.5(PTPN11):c.1224+7A>T
|
rs1222805966
|
|
|
NM_002834.5(PTPN11):c.1225-7A>C
|
|
|
|
NM_002834.5(PTPN11):c.1225-7A>G
|
rs727504397
|
|
|
NM_002834.5(PTPN11):c.1225-9C>G
|
|
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
|
NM_002834.5(PTPN11):c.1235A>G (p.Glu412Gly)
|
rs2038677213
|
|
|
NM_002834.5(PTPN11):c.1241C>T (p.Thr414Met)
|
|
|
|
NM_002834.5(PTPN11):c.1242G>A (p.Thr414=)
|
|
|
|
NM_002834.5(PTPN11):c.1242G>C (p.Thr414=)
|
rs552394167
|
|
|
NM_002834.5(PTPN11):c.1242G>T (p.Thr414=)
|
rs552394167
|
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
|
NM_002834.5(PTPN11):c.1266C>G (p.Thr422=)
|
rs759848374
|
|
|
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu)
|
rs1592852902
|
|
|
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro)
|
rs727505389
|
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
|
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=)
|
rs753173299
|
|
|
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
|
rs397507536
|
|
|
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)
|
rs397507536
|
|
|
NM_002834.5(PTPN11):c.1290C>T (p.Ser430=)
|
|
|
|
NM_002834.5(PTPN11):c.1294C>G (p.Pro432Ala)
|
|
|
|
NM_002834.5(PTPN11):c.1302C>A (p.Gly434=)
|
|
|
|
NM_002834.5(PTPN11):c.1302C>T (p.Gly434=)
|
rs777895575
|
|
|
NM_002834.5(PTPN11):c.1303G>T (p.Val435Leu)
|
|
|
|
NM_002834.5(PTPN11):c.1320G>A (p.Glu440=)
|
|
|
|
NM_002834.5(PTPN11):c.1326G>A (p.Val442=)
|
|
|
|
NM_002834.5(PTPN11):c.1329C>T (p.His443=)
|
|
|
|
NM_002834.5(PTPN11):c.1331A>G (p.His444Arg)
|
|
|
|
NM_002834.5(PTPN11):c.1338G>A (p.Gln446=)
|
|
|
|
NM_002834.5(PTPN11):c.133G>A (p.Val45Ile)
|
rs2037995352
|
|
|
NM_002834.5(PTPN11):c.1343G>A (p.Ser448Asn)
|
|
|
|
NM_002834.5(PTPN11):c.1348A>G (p.Met450Val)
|
rs2038680566
|
|
|
NM_002834.5(PTPN11):c.1348A>T (p.Met450Leu)
|
|
|
|
NM_002834.5(PTPN11):c.1349T>C (p.Met450Thr)
|
rs2135912854
|
|
|
NM_002834.5(PTPN11):c.1356A>G (p.Ala452=)
|
rs1391230822
|
|
|
NM_002834.5(PTPN11):c.1358G>A (p.Gly453Glu)
|
|
|
|
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)
|
rs1566185599
|
|
|
NM_002834.5(PTPN11):c.1362G>T (p.Pro454=)
|
|
|
|
NM_002834.5(PTPN11):c.1379+18C>T
|
|
|
|
NM_002834.5(PTPN11):c.1379+6A>C
|
|
|
|
NM_002834.5(PTPN11):c.1379+9T>A
|
|
|
|
NM_002834.5(PTPN11):c.138-12G>A
|
|
|
|
NM_002834.5(PTPN11):c.1380-11T>C
|
|
|
|
NM_002834.5(PTPN11):c.1380-4G>T
|
rs750640531
|
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
|
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)
|
rs121918468
|
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
|
NM_002834.5(PTPN11):c.1382C>T (p.Ala461Val)
|
rs397509344
|
|
|
NM_002834.5(PTPN11):c.1385G>T (p.Gly462Val)
|
rs2038706464
|
|
|
NM_002834.5(PTPN11):c.1387A>G (p.Ile463Val)
|
|
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
|
NM_002834.5(PTPN11):c.14+12C>G
|
|
|
|
NM_002834.5(PTPN11):c.14+12C>T
|
|
|
|
NM_002834.5(PTPN11):c.14+15G>A
|
|
|
|
NM_002834.5(PTPN11):c.14+15_14+31dup
|
|
|
|
NM_002834.5(PTPN11):c.14+25_14+41del
|
rs772900183
|
|
|
NM_002834.5(PTPN11):c.14+6G>T
|
rs1244171867
|
|
|
NM_002834.5(PTPN11):c.14+8G>C
|
|
|
|
NM_002834.5(PTPN11):c.14+8G>T
|
rs886048965
|
|
|
NM_002834.5(PTPN11):c.14+9C>A
|
rs2135817527
|
|
|
NM_002834.5(PTPN11):c.14+9C>T
|
|
|
|
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)
|
rs397507537
|
|
|
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
|
|
|
|
NM_002834.5(PTPN11):c.1402_1403delinsGA (p.Thr468Glu)
|
rs886039711
|
|
|
NM_002834.5(PTPN11):c.1408A>G (p.Ile470Val)
|
rs779978269
|
|
|
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)
|
rs2038706856
|
|
|
NM_002834.5(PTPN11):c.1410T>C (p.Ile470=)
|
|
|
|
NM_002834.5(PTPN11):c.1425T>C (p.Leu475=)
|
rs746719818
|
|
|
NM_002834.5(PTPN11):c.1426A>G (p.Ile476Val)
|
rs2038706987
|
|
|
NM_002834.5(PTPN11):c.1432A>G (p.Ile478Val)
|
|
|
|
NM_002834.5(PTPN11):c.1444A>C (p.Lys482Gln)
|
|
|
|
NM_002834.5(PTPN11):c.1447+17G>A
|
|
|
|
NM_002834.5(PTPN11):c.1447+1G>A
|
|
|
|
NM_002834.5(PTPN11):c.1447+20del
|
|
|
|
NM_002834.5(PTPN11):c.1447+6T>C
|
|
|
|
NM_002834.5(PTPN11):c.1448-13G>A
|
|
|
|
NM_002834.5(PTPN11):c.1448-15_1448-13del
|
rs775920290
|
|
|
NM_002834.5(PTPN11):c.1448-16G>A
|
|
|
|
NM_002834.5(PTPN11):c.1448-17T>C
|
|
|
|
NM_002834.5(PTPN11):c.1448-1G>A
|
rs2038713813
|
|
|
NM_002834.5(PTPN11):c.1448-2A>T
|
rs2135916018
|
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
|
NM_002834.5(PTPN11):c.1448-7T>G
|
|
|
|
NM_002834.5(PTPN11):c.1450G>A (p.Val484Ile)
|
rs2135916035
|
|
|
NM_002834.5(PTPN11):c.1453G>T (p.Asp485Tyr)
|
rs397507538
|
|
|
NM_002834.5(PTPN11):c.1454A>G (p.Asp485Gly)
|
rs2135916057
|
|
|
NM_002834.5(PTPN11):c.1458C>T (p.Cys486=)
|
|
|
|
NM_002834.5(PTPN11):c.1461T>C (p.Asp487=)
|
|
|
|
NM_002834.5(PTPN11):c.1464T>G (p.Ile488Met)
|
|
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
|
NM_002834.5(PTPN11):c.1479C>T (p.Thr493=)
|
|
|
|
NM_002834.5(PTPN11):c.148G>A (p.Ala50Thr)
|
rs587778636
|
|
|
NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)
|
|
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
|
NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)
|
|
|
|
NM_002834.5(PTPN11):c.1496C>G (p.Ser499Cys)
|
|
|
|
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
|
|
|
|
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)
|
rs2038714548
|
|
|
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg)
|
rs1173984843
|
|
|
NM_002834.5(PTPN11):c.15-15G>A
|
|
|
|
NM_002834.5(PTPN11):c.15-15_15-12del
|
|
|
|
NM_002834.5(PTPN11):c.15-16T>C
|
rs1049293041
|
|
|
NM_002834.5(PTPN11):c.15-20A>G
|
rs2135856230
|
|
|
NM_002834.5(PTPN11):c.15-38C>T
|
rs727505378
|
|
|
NM_002834.5(PTPN11):c.15-4del
|
rs1223869705
|
|
|
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
|
|
|
|
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)
|
rs397507543
|
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
|
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)
|
rs121918458
|
|
|
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)
|
rs397507544
|
|
|
NM_002834.5(PTPN11):c.1506_1507delinsCC (p.Gly503Arg)
|
rs1566186833
|
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.1508G>C (p.Gly503Ala)
|
rs397507546
|
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
|
NM_002834.5(PTPN11):c.1515C>T (p.Val505=)
|
|
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
|
NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro)
|
rs397509345
|
|
|
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)
|
rs886039463
|
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
|
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
|
|
|
|
NM_002834.5(PTPN11):c.1530G>A (p.Gln510=)
|
|
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
|
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
|
|
|
|
NM_002834.5(PTPN11):c.1533C>T (p.Tyr511=)
|
|
|
|
NM_002834.5(PTPN11):c.1534C>T (p.Arg512Ter)
|
|
|
|
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)
|
rs397507503
|
|
|
NM_002834.5(PTPN11):c.1578G>A (p.Gln526=)
|
|
|
|
NM_002834.5(PTPN11):c.1594G>C (p.Glu532Gln)
|
|
|
|
NM_002834.5(PTPN11):c.1599+17T>A
|
rs952059247
|
|
|
NM_002834.5(PTPN11):c.1599+17T>C
|
|
|
|
NM_002834.5(PTPN11):c.1599+18G>A
|
rs2135916843
|
|
|
NM_002834.5(PTPN11):c.1599+20C>A
|
rs2135916858
|
|
|
NM_002834.5(PTPN11):c.1599+4C>A
|
rs142606486
|
|
|
NM_002834.5(PTPN11):c.1599+5C>T
|
|
|
|
NM_002834.5(PTPN11):c.1599+6A>C
|
|
|
|
NM_002834.5(PTPN11):c.1599+7G>C
|
|
|
|
NM_002834.5(PTPN11):c.1599+7G>T
|
|
|
|
NM_002834.5(PTPN11):c.1599+9C>T
|
|
|
|
NM_002834.5(PTPN11):c.1600-14C>T
|
rs568632219
|
|
|
NM_002834.5(PTPN11):c.1600-17A>G
|
|
|
|
NM_002834.5(PTPN11):c.1600-8A>T
|
rs2038881415
|
|
|
NM_002834.5(PTPN11):c.1604G>A (p.Ser535Asn)
|
|
|
|
NM_002834.5(PTPN11):c.1609A>C (p.Arg537=)
|
|
|
|
NM_002834.5(PTPN11):c.1623A>G (p.Glu541=)
|
|
|
|
NM_002834.5(PTPN11):c.1628C>T (p.Thr543Ile)
|
rs1057520397
|
|
|
NM_002834.5(PTPN11):c.1635T>C (p.Ile545=)
|
rs1166186438
|
|
|
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)
|
|
|
|
NM_002834.5(PTPN11):c.164A>G (p.Lys55Arg)
|
rs1261667540
|
|
|
NM_002834.5(PTPN11):c.1657A>T (p.Thr553Ser)
|
|
|
|
NM_002834.5(PTPN11):c.1662T>C (p.Ser554=)
|
rs2135928801
|
|
|
NM_002834.5(PTPN11):c.1671G>C (p.Gln557His)
|
rs753741561
|
|
|
NM_002834.5(PTPN11):c.1675C>T (p.Pro559Ser)
|
rs1060502526
|
|
|
NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)
|
|
|
|
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val)
|
rs397516797
|
|
|
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)
|
rs1052382672
|
|
|
NM_002834.5(PTPN11):c.1680C>T (p.Leu560=)
|
|
|
|
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)
|
rs2038884191
|
|
|
NM_002834.5(PTPN11):c.1690A>G (p.Thr564Ala)
|
|
|
|
NM_002834.5(PTPN11):c.1696A>G (p.Thr566Ala)
|
rs746712068
|
|
|
NM_002834.5(PTPN11):c.1704C>T (p.Pro568=)
|
|
|
|
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg)
|
rs1420924484
|
|
|
NM_002834.5(PTPN11):c.1708G>T (p.Ala570Ser)
|
|
|
|
NM_002834.5(PTPN11):c.1712+11C>T
|
|
|
|
NM_002834.5(PTPN11):c.1712+15A>T
|
|
|
|
NM_002834.5(PTPN11):c.1712+9T>G
|
|
|
|
NM_002834.5(PTPN11):c.1712A>C (p.Glu571Ala)
|
|
|
|
NM_002834.5(PTPN11):c.1713-14dup
|
|
|
|
NM_002834.5(PTPN11):c.1713-6_1730del
|
rs2135930793
|
|
|
NM_002834.5(PTPN11):c.1716G>A (p.Met572Ile)
|
|
|
|
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
|
|
|
|
NM_002834.5(PTPN11):c.171_173del (p.Gln57_Asn58delinsHis)
|
|
|
|
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly)
|
rs397516799
|
|
|
NM_002834.5(PTPN11):c.1727G>A (p.Ser576Asn)
|
|
|
|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.172A>T (p.Asn58Tyr)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.1731T>G (p.Ala577=)
|
rs2135930829
|
|
|
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)
|
rs2038914051
|
|
|
NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala)
|
rs2135930864
|
|
|
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)
|
rs397507506
|
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
|
NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)
|
|
|
|
NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)
|
|
|
|
NM_002834.5(PTPN11):c.1766A>C (p.Gln589Pro)
|
|
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
|
NM_002834.5(PTPN11):c.178G>C (p.Gly60Arg)
|
rs397507507
|
|
|
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)
|
rs397507507
|
|
|
NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp)
|
rs397507509
|
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
|
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)
|
rs397507509
|
|
|
NM_002834.5(PTPN11):c.179_181del (p.Gly60del)
|
rs80338836
|
|
|
NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal)
|
rs397507508
|
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
|
NM_002834.5(PTPN11):c.181G>C (p.Asp61His)
|
rs397507510
|
|
|
NM_002834.5(PTPN11):c.181_183del (p.Asp61del)
|
rs869025574
|
|
|
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.182A>T (p.Asp61Val)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)
|
rs121918460
|
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
|
NM_002834.5(PTPN11):c.184_185delinsAT (p.Tyr62Ile)
|
|
|
|
NM_002834.5(PTPN11):c.185A>C (p.Tyr62Ser)
|
|
|
|
NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)
|
|
|
|
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
|
|
|
|
NM_002834.5(PTPN11):c.18G>T (p.Trp6Cys)
|
|
|
|
NM_002834.5(PTPN11):c.18del (p.Trp6fs)
|
rs2135856266
|
|
|
NM_002834.5(PTPN11):c.198T>C (p.Tyr66=)
|
|
|
|
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)
|
rs397507511
|
|
|
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)
|
rs397507511
|
|
|
NM_002834.5(PTPN11):c.206A>C (p.Glu69Ala)
|
|
|
|
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)
|
rs727503380
|
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
|
NM_002834.5(PTPN11):c.210A>G (p.Lys70=)
|
|
|
|
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
|
rs397507512
|
|
|
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
|
|
|
|
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)
|
rs1555267558
|
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
|
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)
|
rs121918454
|
|
|
NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro)
|
rs397507513
|
|
|
NM_002834.5(PTPN11):c.217A>G (p.Thr73Ala)
|
|
|
|
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu)
|
rs397516802
|
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
|
NM_002834.5(PTPN11):c.220_221dup (p.Leu74fs)
|
rs2135862367
|
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
|
NM_002834.5(PTPN11):c.223G>C (p.Ala75Pro)
|
rs1555267561
|
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
|
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)
|
rs121918464
|
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
|
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)
|
rs121918465
|
|
|
NM_002834.5(PTPN11):c.228G>A (p.Glu76=)
|
|
|
|
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)
|
rs397507514
|
|
|
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
|
rs397507514
|
|
|
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)
|
rs397516803
|
|
|
NM_002834.5(PTPN11):c.236A>C (p.Gln79Pro)
|
|
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
|
NM_002834.5(PTPN11):c.237G>C (p.Gln79His)
|
|
|
|
NM_002834.5(PTPN11):c.246G>C (p.Met82Ile)
|
rs753788277
|
|
|
NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg)
|
rs925129380
|
|
|
NM_002834.5(PTPN11):c.265_269del (p.Lys89fs)
|
|
|
|
NM_002834.5(PTPN11):c.276T>A (p.Asn92Lys)
|
rs2135862739
|
|
|
NM_002834.5(PTPN11):c.279A>T (p.Gly93=)
|
|
|
|
NM_002834.5(PTPN11):c.281A>G (p.Asp94Gly)
|
rs2135862786
|
|
|
NM_002834.5(PTPN11):c.283G>A (p.Val95Ile)
|
rs2135862799
|
|
|
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)
|
rs397507516
|
|
|
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp)
|
rs368633510
|
|
|
NM_002834.5(PTPN11):c.290A>T (p.Glu97Val)
|
rs2135862855
|
|
|
NM_002834.5(PTPN11):c.294T>G (p.Leu98=)
|
|
|
|
NM_002834.5(PTPN11):c.29A>C (p.Asn10Thr)
|
|
|
|
NM_002834.5(PTPN11):c.29A>G (p.Asn10Ser)
|
|
|
|
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
|
|
|
|
NM_002834.5(PTPN11):c.312T>C (p.Cys104=)
|
rs1026762762
|
|
|
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)
|
rs397507517
|
|
|
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
|
|
|
|
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
|
|
|
|
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)
|
rs397507518
|
|
|
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)
|
rs397507519
|
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
|
NM_002834.5(PTPN11):c.32T>C (p.Ile11Thr)
|
|
|
|
NM_002834.5(PTPN11):c.332+3C>T
|
|
|
|
NM_002834.5(PTPN11):c.332+7A>T
|
|
|
|
NM_002834.5(PTPN11):c.333-11A>G
|
|
|
|
NM_002834.5(PTPN11):c.333-18A>T
|
|
|
|
NM_002834.5(PTPN11):c.342T>C (p.His114=)
|
|
|
|
NM_002834.5(PTPN11):c.351C>G (p.Leu117=)
|
|
|
|
NM_002834.5(PTPN11):c.354T>G (p.Ser118=)
|
|
|
|
NM_002834.5(PTPN11):c.363A>G (p.Glu121=)
|
rs2135866636
|
|
|
NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp)
|
rs755619262
|
|
|
NM_002834.5(PTPN11):c.36T>C (p.Thr12=)
|
rs760086740
|
|
|
NM_002834.5(PTPN11):c.381T>C (p.Thr127=)
|
rs757004128
|
|
|
NM_002834.5(PTPN11):c.384A>G (p.Glu128=)
|
|
|
|
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
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|
|
|
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
|
|
|
|
NM_002834.5(PTPN11):c.409del (p.Val137fs)
|
rs2038103354
|
|
|
NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)
|
rs267606989
|
|
|
NM_002834.5(PTPN11):c.416A>G (p.Glu139Gly)
|
|
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
|
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)
|
rs397507520
|
|
|
NM_002834.5(PTPN11):c.418A>T (p.Ser140Cys)
|
rs1060502527
|
|
|
NM_002834.5(PTPN11):c.42G>A (p.Val14=)
|
|
|
|
NM_002834.5(PTPN11):c.466G>T (p.Asp156Tyr)
|
|
|
|
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg)
|
rs1315568280
|
|
|
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)
|
rs1555267825
|
|
|
NM_002834.5(PTPN11):c.473G>T (p.Gly158Val)
|
|
|
|
NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn)
|
rs1044076600
|
|
|
NM_002834.5(PTPN11):c.487G>T (p.Gly163Cys)
|
|
|
|
NM_002834.5(PTPN11):c.489C>T (p.Gly163=)
|
rs2038105603
|
|
|
NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)
|
|
|
|
NM_002834.5(PTPN11):c.501G>C (p.Val167=)
|
|
|
|
NM_002834.5(PTPN11):c.502A>G (p.Thr168Ala)
|
rs2038105901
|
|
|
NM_002834.5(PTPN11):c.507T>C (p.His169=)
|
rs2135867467
|
|
|
NM_002834.5(PTPN11):c.519C>G (p.Arg173=)
|
rs767425313
|
|
|
NM_002834.5(PTPN11):c.525+11A>G
|
rs775512160
|
|
|
NM_002834.5(PTPN11):c.525+16A>T
|
|
|
|
NM_002834.5(PTPN11):c.525+19A>G
|
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|
|
NM_002834.5(PTPN11):c.525+1G>A
|
|
|
|
NM_002834.5(PTPN11):c.525+6T>A
|
rs370878456
|
|
|
NM_002834.5(PTPN11):c.525+6T>C
|
|
|
|
NM_002834.5(PTPN11):c.526-14G>A
|
|
|
|
NM_002834.5(PTPN11):c.526-18_526-17del
|
rs1471067408
|
|
|
NM_002834.5(PTPN11):c.526-20T>C
|
rs774566320
|
|
|
NM_002834.5(PTPN11):c.528A>G (p.Glu176=)
|
|
|
|
NM_002834.5(PTPN11):c.538G>A (p.Asp180Asn)
|
|
|
|
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)
|
rs587778635
|
|
|
NM_002834.5(PTPN11):c.554A>T (p.Glu185Val)
|
|
|
|
NM_002834.5(PTPN11):c.557G>C (p.Arg186Pro)
|
rs764663951
|
|
|
NM_002834.5(PTPN11):c.55C>G (p.Leu19Val)
|
|
|
|
NM_002834.5(PTPN11):c.567T>C (p.Ser189=)
|
rs2135869537
|
|
|
NM_002834.5(PTPN11):c.569T>A (p.Leu190Ter)
|
rs2038125958
|
|
|
NM_002834.5(PTPN11):c.570G>A (p.Leu190=)
|
|
|
|
NM_002834.5(PTPN11):c.574G>A (p.Asp192Asn)
|
|
|
|
NM_002834.5(PTPN11):c.575A>C (p.Asp192Ala)
|
|
|
|
NM_002834.5(PTPN11):c.583G>C (p.Glu195Gln)
|
|
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
|
NM_002834.5(PTPN11):c.604A>T (p.Met202Leu)
|
|
|
|
NM_002834.5(PTPN11):c.60G>A (p.Leu20=)
|
|
|
|
NM_002834.5(PTPN11):c.611A>T (p.Glu204Val)
|
|
|
|
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
|
|
|
|
NM_002834.5(PTPN11):c.615A>G (p.Thr205=)
|
rs1592830197
|
|
|
NM_002834.5(PTPN11):c.624A>G (p.Thr208=)
|
rs864622409
|
|
|
NM_002834.5(PTPN11):c.628C>A (p.Leu210Ile)
|
|
|
|
NM_002834.5(PTPN11):c.634_638del (p.Leu212fs)
|
rs2038127324
|
|
|
NM_002834.5(PTPN11):c.636C>A (p.Leu212=)
|
|
|
|
NM_002834.5(PTPN11):c.636C>G (p.Leu212=)
|
rs1592830239
|
|
|
NM_002834.5(PTPN11):c.641A>T (p.Gln214Leu)
|
|
|
|
NM_002834.5(PTPN11):c.642+17G>A
|
|
|
|
NM_002834.5(PTPN11):c.642+19T>G
|
|
|
|
NM_002834.5(PTPN11):c.643-17C>T
|
|
|
|
NM_002834.5(PTPN11):c.643-5A>G
|
|
|
|
NM_002834.5(PTPN11):c.643-6G>A
|
rs780387568
|
|
|
NM_002834.5(PTPN11):c.643-6G>T
|
rs780387568
|
|
|
NM_002834.5(PTPN11):c.643-8T>C
|
|
|
|
NM_002834.5(PTPN11):c.645C>A (p.Pro215=)
|
|
|
|
NM_002834.5(PTPN11):c.645C>G (p.Pro215=)
|
|
|
|
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
|
|
|
|
NM_002834.5(PTPN11):c.653C>T (p.Thr218Met)
|
|
|
|
NM_002834.5(PTPN11):c.654G>A (p.Thr218=)
|
|
|
|
NM_002834.5(PTPN11):c.658C>T (p.Arg220Cys)
|
rs2135872268
|
|
|
NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer)
|
rs397516807
|
|
|
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
|
|
|
|
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
|
NM_002834.5(PTPN11):c.696A>G (p.Glu232=)
|
|
|
|
NM_002834.5(PTPN11):c.697C>T (p.Leu233=)
|
|
|
|
NM_002834.5(PTPN11):c.6A>G (p.Thr2=)
|
rs768238710
|
|
|
NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)
|
|
|
|
NM_002834.5(PTPN11):c.712G>A (p.Glu238Lys)
|
|
|
|
NM_002834.5(PTPN11):c.727_732del (p.Val243_Lys244del)
|
rs2135872358
|
|
|
NM_002834.5(PTPN11):c.733C>G (p.Gln245Glu)
|
rs2038155027
|
|
|
NM_002834.5(PTPN11):c.745G>T (p.Glu249Ter)
|
|
|
|
NM_002834.5(PTPN11):c.756+16A>G
|
|
|
|
NM_002834.5(PTPN11):c.756+16A>T
|
|
|
|
NM_002834.5(PTPN11):c.756+18T>C
|
|
|
|
NM_002834.5(PTPN11):c.756+19G>A
|
|
|
|
NM_002834.5(PTPN11):c.756+22_756+36del
|
|
|
|
NM_002834.5(PTPN11):c.756+6T>C
|
|
|
|
NM_002834.5(PTPN11):c.757-12C>G
|
|
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
|
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup)
|
rs397507524
|
|
|
NM_002834.5(PTPN11):c.766C>A (p.Gln256Lys)
|
rs1391791847
|
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
|
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)
|
rs2038442309
|
|
|
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)
|
rs1279770165
|
|
|
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)
|
rs397516809
|
|
|
NM_002834.5(PTPN11):c.776G>A (p.Cys259Tyr)
|
|
|
|
NM_002834.5(PTPN11):c.781_782delinsTA (p.Leu261Tyr)
|
|
|
|
NM_002834.5(PTPN11):c.782T>A (p.Leu261His)
|
rs765642157
|
|
|
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)
|
rs765642157
|
|
|
NM_002834.5(PTPN11):c.784C>T (p.Leu262Phe)
|
|
|
|
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)
|
rs397507526
|
|
|
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
|
|
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
|
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)
|
rs397507527
|
|
|
NM_002834.5(PTPN11):c.825C>T (p.Asn275=)
|
|
|
|
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser)
|
rs121918456
|
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
|
NM_002834.5(PTPN11):c.853+12T>C
|
|
|
|
NM_002834.5(PTPN11):c.853+14T>G
|
|
|
|
NM_002834.5(PTPN11):c.853+18G>T
|
|
|
|
NM_002834.5(PTPN11):c.853+19C>T
|
|
|
|
NM_002834.5(PTPN11):c.853+3A>G
|
|
|
|
NM_002834.5(PTPN11):c.853+7A>G
|
|
|
|
NM_002834.5(PTPN11):c.853+8T>C
|
rs886048966
|
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
|
NM_002834.5(PTPN11):c.854-13_854-12del
|
|
|
|
NM_002834.5(PTPN11):c.854-14T>A
|
rs2038526676
|
|
|
NM_002834.5(PTPN11):c.854-15C>T
|
|
|
|
NM_002834.5(PTPN11):c.854-17G>A
|
|
|
|
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)
|
rs121918463
|
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
|
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)
|
rs121918463
|
|
|
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)
|
rs397516810
|
|
|
NM_002834.5(PTPN11):c.861T>C (p.His287=)
|
|
|
|
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)
|
rs2135901005
|
|
|
NM_002834.5(PTPN11):c.877C>T (p.His293Tyr)
|
|
|
|
NM_002834.5(PTPN11):c.879C>A (p.His293Gln)
|
rs117730996
|
|
|
NM_002834.5(PTPN11):c.879C>G (p.His293Gln)
|
rs117730996
|
|
|
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
|
|
|
|
NM_002834.5(PTPN11):c.880G>T (p.Asp294Tyr)
|
|
|
|
NM_002834.5(PTPN11):c.882T>C (p.Asp294=)
|
|
|
|
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
|
|
|
|
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
|
|
|
|
NM_002834.5(PTPN11):c.912C>T (p.Tyr304=)
|
|
|
|
NM_002834.5(PTPN11):c.915C>T (p.Ile305=)
|
rs2038528739
|
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
|
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)
|
rs2037994433
|
|
|
NM_002834.5(PTPN11):c.933+11C>T
|
rs397507532
|
|
|
NM_002834.5(PTPN11):c.933+25T>C
|
rs727505386
|
|
|
NM_002834.5(PTPN11):c.933+7T>G
|
|
|
|
NM_002834.5(PTPN11):c.933+8T>C
|
|
|
|
NM_002834.5(PTPN11):c.934-10A>G
|
|
|
|
NM_002834.5(PTPN11):c.934-12del
|
|
|
|
NM_002834.5(PTPN11):c.947C>T (p.Thr316Ile)
|
rs547041954
|
|
|
NM_002834.5(PTPN11):c.948C>G (p.Thr316=)
|
|
|
|
NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp)
|
rs2038531520
|
|
|
NM_002834.5(PTPN11):c.956A>G (p.Asn319Ser)
|
|
|
|
NM_002834.5(PTPN11):c.965A>G (p.Lys322Arg)
|
|
|
|
NM_002834.5(PTPN11):c.971_972insGAGTTACAAGTGCAACAATTCAAAG (p.Lys325fs)
|
|
|
|
NM_002834.5(PTPN11):c.972A>C (p.Lys324Asn)
|
|
|
|
NM_002834.5(PTPN11):c.984T>C (p.Ile328=)
|
|
|
|
NM_002834.5(PTPN11):c.997T>A (p.Cys333Ser)
|
rs730880993
|
|
|
NM_002834.5(PTPN11):c.99T>C (p.Pro33=)
|
rs2135856472
|
|