NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.*139dup
|
rs865903736
|
0.10981
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000152.5(GAA):c.1438-32G>A
|
rs199897967
|
0.00320
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_000152.5(GAA):c.859-18G>A
|
rs377222482
|
0.00046
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000152.5(GAA):c.2751C>T (p.Leu917=)
|
rs146507838
|
0.00020
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000152.5(GAA):c.2274C>T (p.Ala758=)
|
rs150431943
|
0.00016
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000152.5(GAA):c.1755-7A>G
|
rs781539108
|
0.00013
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.2331+11G>C
|
rs376709495
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000152.5(GAA):c.1872C>T (p.Leu624=)
|
rs373103422
|
0.00011
|
NM_000152.5(GAA):c.546+4G>C
|
rs550618589
|
0.00011
|
NM_000152.5(GAA):c.1637-12C>T
|
rs374923144
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000152.5(GAA):c.2482-18G>A
|
rs757911622
|
0.00010
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
NM_000152.5(GAA):c.1076-16C>T
|
rs367704731
|
0.00009
|
NM_000152.5(GAA):c.1302C>T (p.Gly434=)
|
rs752231775
|
0.00009
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.1754+21C>T
|
rs373387713
|
0.00009
|
NM_000152.5(GAA):c.1818C>T (p.His606=)
|
rs374368644
|
0.00009
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
|
rs772250523
|
0.00008
|
NM_000152.5(GAA):c.1636+8C>T
|
rs572293131
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000152.5(GAA):c.2189+10C>T
|
rs750905127
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000152.5(GAA):c.693-5C>T
|
rs763538104
|
0.00006
|
NM_000152.5(GAA):c.858+15G>A
|
rs754760986
|
0.00006
|
NM_000152.5(GAA):c.955+15G>A
|
rs778687044
|
0.00006
|
NM_000152.5(GAA):c.1075+20C>T
|
rs370379513
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
NM_000152.5(GAA):c.1488G>A (p.Leu496=)
|
rs750777002
|
0.00005
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000152.5(GAA):c.249C>T (p.Asp83=)
|
rs377351519
|
0.00005
|
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
|
rs774018778
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000152.5(GAA):c.546+17C>T
|
rs529918753
|
0.00005
|
NM_000152.5(GAA):c.693-13C>G
|
rs760379754
|
0.00005
|
NM_000152.5(GAA):c.858+18G>A
|
rs747775111
|
0.00005
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1491C>T (p.Ala497=)
|
rs373993015
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
|
rs765362308
|
0.00004
|
NM_000152.5(GAA):c.1888+8C>T
|
rs772887194
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.246C>T (p.Cys82=)
|
rs749584846
|
0.00004
|
NM_000152.5(GAA):c.2647-6G>T
|
rs201525743
|
0.00004
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
NM_000152.5(GAA):c.618C>T (p.Ser206=)
|
rs146292898
|
0.00004
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
NM_000152.5(GAA):c.858+17C>T
|
rs371980868
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000152.5(GAA):c.1059G>A (p.Gln353=)
|
rs376146090
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
NM_000152.5(GAA):c.1636+10C>A
|
rs778634411
|
0.00003
|
NM_000152.5(GAA):c.1754+16C>T
|
rs369836797
|
0.00003
|
NM_000152.5(GAA):c.1803G>A (p.Ser601=)
|
rs368993048
|
0.00003
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
0.00003
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000152.5(GAA):c.2481+14G>A
|
rs749667983
|
0.00003
|
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)
|
rs747076541
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000152.5(GAA):c.2757C>T (p.Asn919=)
|
rs766916186
|
0.00003
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
NM_000152.5(GAA):c.654C>T (p.Phe218=)
|
rs762830719
|
0.00003
|
NM_000152.5(GAA):c.69C>T (p.Thr23=)
|
rs746351336
|
0.00003
|
NM_000152.5(GAA):c.855C>A (p.Pro285=)
|
rs754080080
|
0.00003
|
NM_000152.5(GAA):c.867G>A (p.Ala289=)
|
rs534515557
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1194+16_1194+18del
|
rs750576595
|
0.00002
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
NM_000152.5(GAA):c.1438-11T>A
|
rs376247021
|
0.00002
|
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
|
rs745482879
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.1637-17G>A
|
rs1031721446
|
0.00002
|
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
|
rs756507404
|
0.00002
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
NM_000152.5(GAA):c.1929G>A (p.Gly643=)
|
rs371096565
|
0.00002
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
NM_000152.5(GAA):c.2331+16C>T
|
rs762495996
|
0.00002
|
NM_000152.5(GAA):c.240A>G (p.Thr80=)
|
rs778124725
|
0.00002
|
NM_000152.5(GAA):c.2445C>T (p.Asn815=)
|
rs755846997
|
0.00002
|
NM_000152.5(GAA):c.2482-19C>T
|
rs750055374
|
0.00002
|
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
|
rs375831200
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
NM_000152.5(GAA):c.546+2_546+6dup
|
rs753159224
|
0.00002
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.692+16T>C
|
rs774229249
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.72T>C (p.Ala24=)
|
rs747380728
|
0.00002
|
NM_000152.5(GAA):c.924C>T (p.His308=)
|
rs370105640
|
0.00002
|
NM_000152.5(GAA):c.972G>A (p.Pro324=)
|
rs763445243
|
0.00002
|
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
|
rs1249705476
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1053G>A (p.Val351=)
|
rs773063199
|
0.00001
|
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
|
rs2039145288
|
0.00001
|
NM_000152.5(GAA):c.1068C>T (p.Asp356=)
|
rs751215137
|
0.00001
|
NM_000152.5(GAA):c.108G>A (p.Leu36=)
|
rs1369758261
|
0.00001
|
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
|
rs1555600060
|
0.00001
|
NM_000152.5(GAA):c.1107G>T (p.Leu369=)
|
rs767807936
|
0.00001
|
NM_000152.5(GAA):c.1110C>G (p.Gly370=)
|
rs775172804
|
0.00001
|
NM_000152.5(GAA):c.1116C>T (p.His372=)
|
rs760146859
|
0.00001
|
NM_000152.5(GAA):c.1146T>G (p.Ala382=)
|
rs1259509761
|
0.00001
|
NM_000152.5(GAA):c.1161G>C (p.Val387=)
|
rs756211975
|
0.00001
|
NM_000152.5(GAA):c.1170C>T (p.Asn390=)
|
rs757174980
|
0.00001
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
NM_000152.5(GAA):c.1195-4G>T
|
rs886042626
|
0.00001
|
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
|
rs1555600168
|
0.00001
|
NM_000152.5(GAA):c.1200C>G (p.Val400=)
|
rs1431452557
|
0.00001
|
NM_000152.5(GAA):c.1227C>T (p.Asp409=)
|
rs2039157937
|
0.00001
|
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
|
rs761982159
|
0.00001
|
NM_000152.5(GAA):c.1326+8C>A
|
rs762988038
|
0.00001
|
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
|
rs931782061
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1438-10C>T
|
rs1029231930
|
0.00001
|
NM_000152.5(GAA):c.1449G>A (p.Gly483=)
|
rs2039213274
|
0.00001
|
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
|
rs774037839
|
0.00001
|
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
|
rs1051768479
|
0.00001
|
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
|
rs767075458
|
0.00001
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
NM_000152.5(GAA):c.1500G>A (p.Glu500=)
|
rs893313279
|
0.00001
|
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
|
rs150990571
|
0.00001
|
NM_000152.5(GAA):c.1551+10G>T
|
rs1002900770
|
0.00001
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1551+7G>A
|
rs1340464172
|
0.00001
|
NM_000152.5(GAA):c.1636+14C>T
|
rs758256318
|
0.00001
|
NM_000152.5(GAA):c.1636+7T>C
|
rs1041767114
|
0.00001
|
NM_000152.5(GAA):c.1636+9G>A
|
rs200302174
|
0.00001
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
NM_000152.5(GAA):c.1662G>A (p.Ala554=)
|
rs775954786
|
0.00001
|
NM_000152.5(GAA):c.1698C>T (p.Ser566=)
|
rs970201201
|
0.00001
|
NM_000152.5(GAA):c.1754+8C>T
|
rs1349192080
|
0.00001
|
NM_000152.5(GAA):c.1755-11C>T
|
rs752066426
|
0.00001
|
NM_000152.5(GAA):c.1797C>A (p.Ser599=)
|
rs761377657
|
0.00001
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
NM_000152.5(GAA):c.183C>T (p.Ser61=)
|
rs17853995
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.1857C>T (p.Ser619=)
|
rs914396317
|
0.00001
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
NM_000152.5(GAA):c.1889-14C>T
|
rs890806224
|
0.00001
|
NM_000152.5(GAA):c.1926C>T (p.Val642=)
|
rs1346499760
|
0.00001
|
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
|
rs370737292
|
0.00001
|
NM_000152.5(GAA):c.1977G>A (p.Val659=)
|
rs751873094
|
0.00001
|
NM_000152.5(GAA):c.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
0.00001
|
NM_000152.5(GAA):c.2040+8G>A
|
rs779647712
|
0.00001
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
NM_000152.5(GAA):c.2041-14C>T
|
rs1047297951
|
0.00001
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
NM_000152.5(GAA):c.2041-7C>T
|
rs1212995227
|
0.00001
|
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
|
rs757802524
|
0.00001
|
NM_000152.5(GAA):c.2097C>T (p.Leu699=)
|
rs1381174968
|
0.00001
|
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
|
rs1479318289
|
0.00001
|
NM_000152.5(GAA):c.2142C>T (p.His714=)
|
rs779462990
|
0.00001
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
NM_000152.5(GAA):c.2259C>T (p.Thr753=)
|
rs2039367115
|
0.00001
|
NM_000152.5(GAA):c.2283C>T (p.Ala761=)
|
rs774769974
|
0.00001
|
NM_000152.5(GAA):c.231A>G (p.Ala77=)
|
rs748580998
|
0.00001
|
NM_000152.5(GAA):c.234G>T (p.Val78=)
|
rs2039033854
|
0.00001
|
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
|
rs752459996
|
0.00001
|
NM_000152.5(GAA):c.2424G>A (p.Pro808=)
|
rs763272351
|
0.00001
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
NM_000152.5(GAA):c.2463G>T (p.Gly821=)
|
rs923989221
|
0.00001
|
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
|
rs2039389671
|
0.00001
|
NM_000152.5(GAA):c.2481+12A>G
|
rs773652476
|
0.00001
|
NM_000152.5(GAA):c.2544C>T (p.Thr848=)
|
rs776487269
|
0.00001
|
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
|
rs761608706
|
0.00001
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
NM_000152.5(GAA):c.2646+11G>A
|
rs1219786295
|
0.00001
|
NM_000152.5(GAA):c.2646+8C>A
|
rs773123506
|
0.00001
|
NM_000152.5(GAA):c.264C>T (p.Ser88=)
|
rs1470933192
|
0.00001
|
NM_000152.5(GAA):c.2655C>T (p.Ile885=)
|
rs774840779
|
0.00001
|
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
|
rs1490464728
|
0.00001
|
NM_000152.5(GAA):c.270C>T (p.Phe90=)
|
rs768078324
|
0.00001
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
NM_000152.5(GAA):c.276C>T (p.Cys92=)
|
rs1232001857
|
0.00001
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
NM_000152.5(GAA):c.2844C>T (p.Leu948=)
|
rs774656713
|
0.00001
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.372G>A (p.Gln124=)
|
rs899924363
|
0.00001
|
NM_000152.5(GAA):c.384C>T (p.Phe128=)
|
rs1021707839
|
0.00001
|
NM_000152.5(GAA):c.421C>T (p.Leu141=)
|
rs1379595858
|
0.00001
|
NM_000152.5(GAA):c.42C>G (p.Ala14=)
|
rs141377453
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.450C>G (p.Ala150=)
|
rs752367410
|
0.00001
|
NM_000152.5(GAA):c.456G>T (p.Leu152=)
|
rs1477781307
|
0.00001
|
NM_000152.5(GAA):c.459C>G (p.Thr153=)
|
rs751672437
|
0.00001
|
NM_000152.5(GAA):c.468C>T (p.Thr156=)
|
rs145849611
|
0.00001
|
NM_000152.5(GAA):c.471C>T (p.Pro157=)
|
rs551653463
|
0.00001
|
NM_000152.5(GAA):c.48C>T (p.Cys16=)
|
rs202168804
|
0.00001
|
NM_000152.5(GAA):c.546+12A>G
|
rs1438157883
|
0.00001
|
NM_000152.5(GAA):c.546+7A>C
|
rs1329049814
|
0.00001
|
NM_000152.5(GAA):c.547-41G>C
|
rs753870549
|
0.00001
|
NM_000152.5(GAA):c.594G>A (p.Pro198=)
|
rs1426823689
|
0.00001
|
NM_000152.5(GAA):c.603C>T (p.His201=)
|
rs1442775924
|
0.00001
|
NM_000152.5(GAA):c.609G>A (p.Arg203=)
|
rs1247872563
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.621A>G (p.Pro207=)
|
rs772482115
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000152.5(GAA):c.681C>T (p.Asp227=)
|
rs780515378
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.715C>T (p.Leu239=)
|
rs778882374
|
0.00001
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
NM_000152.5(GAA):c.798C>G (p.Pro266=)
|
rs1598575210
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.843G>A (p.Arg281=)
|
rs1221565410
|
0.00001
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
NM_000152.5(GAA):c.859-19C>T
|
rs1331623680
|
0.00001
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
NM_000152.5(GAA):c.909C>T (p.Asp303=)
|
rs752724918
|
0.00001
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
NM_000152.5(GAA):c.936G>T (p.Leu312=)
|
rs1456154347
|
0.00001
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
NM_000152.5(GAA):c.996G>A (p.Ser332=)
|
rs779266179
|
0.00001
|
NM_000152.5(GAA):c.99T>C (p.His33=)
|
rs144736309
|
0.00001
|
NM_000152.5(GAA):c.1005G>A (p.Gly335=)
|
rs1598576696
|
|
NM_000152.5(GAA):c.1005G>C (p.Gly335=)
|
|
|
NM_000152.5(GAA):c.1008C>A (p.Ile336=)
|
rs994615279
|
|
NM_000152.5(GAA):c.1008C>T (p.Ile336=)
|
|
|
NM_000152.5(GAA):c.1009C>T (p.Leu337=)
|
rs1387814304
|
|
NM_000152.5(GAA):c.1011G>T (p.Leu337=)
|
|
|
NM_000152.5(GAA):c.1017C>T (p.Val339=)
|
rs1242745765
|
|
NM_000152.5(GAA):c.1020C>T (p.Tyr340=)
|
rs1358917187
|
|
NM_000152.5(GAA):c.1023C>A (p.Ile341=)
|
|
|
NM_000152.5(GAA):c.1026C>T (p.Phe342=)
|
rs910930578
|
|
NM_000152.5(GAA):c.1035A>C (p.Pro345=)
|
rs942325926
|
|
NM_000152.5(GAA):c.1041C>T (p.Pro347=)
|
rs1489442441
|
|
NM_000152.5(GAA):c.105C>T (p.Phe35=)
|
|
|
NM_000152.5(GAA):c.1062C>T (p.Tyr354=)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
|
rs2143853784
|
|
NM_000152.5(GAA):c.1071T>C (p.Val357=)
|
rs1598576937
|
|
NM_000152.5(GAA):c.1075+10G>A
|
|
|
NM_000152.5(GAA):c.1075+14C>G
|
|
|
NM_000152.5(GAA):c.1075+14C>T
|
rs376547092
|
|
NM_000152.5(GAA):c.1075+15C>T
|
|
|
NM_000152.5(GAA):c.1075+16T>C
|
|
|
NM_000152.5(GAA):c.1075+18G>A
|
|
|
NM_000152.5(GAA):c.1075+7C>T
|
|
|
NM_000152.5(GAA):c.1075+8del
|
|
|
NM_000152.5(GAA):c.1076-12G>A
|
|
|
NM_000152.5(GAA):c.1076-12del
|
rs2039148326
|
|
NM_000152.5(GAA):c.1076-13C>T
|
|
|
NM_000152.5(GAA):c.1076-14G>A
|
rs2143854410
|
|
NM_000152.5(GAA):c.1076-15G>A
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>T
|
|
|
NM_000152.5(GAA):c.1076-4G>T
|
rs2039148417
|
|
NM_000152.5(GAA):c.1076-7C>T
|
|
|
NM_000152.5(GAA):c.1076-8G>A
|
|
|
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
|
rs2143854519
|
|
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
|
rs2143854600
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.108G>T (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
NM_000152.5(GAA):c.1092G>C (p.Pro364=)
|
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
NM_000152.5(GAA):c.1098C>T (p.Tyr366=)
|
rs2143854770
|
|
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
|
rs2143854883
|
|
NM_000152.5(GAA):c.1107G>A (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1107G>C (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
|
rs775172804
|
|
NM_000152.5(GAA):c.1119G>A (p.Leu373=)
|
rs763579808
|
|
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
|
rs1342501706
|
|
NM_000152.5(GAA):c.1134C>T (p.Tyr378=)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
|
rs2039151138
|
|
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1140C>T (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1149C>T (p.Ile383=)
|
|
|
NM_000152.5(GAA):c.1155C>G (p.Arg385=)
|
|
|
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
|
rs2143855573
|
|
NM_000152.5(GAA):c.1164G>A (p.Val388=)
|
rs2143855798
|
|
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
|
rs2143855934
|
|
NM_000152.5(GAA):c.117C>T (p.Pro39=)
|
|
|
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
|
rs771894765
|
|
NM_000152.5(GAA):c.1185C>T (p.His395=)
|
rs2143856022
|
|
NM_000152.5(GAA):c.1188C>T (p.Phe396=)
|
rs756126944
|
|
NM_000152.5(GAA):c.1191C>G (p.Pro397=)
|
|
|
NM_000152.5(GAA):c.1194+10G>A
|
rs2143856297
|
|
NM_000152.5(GAA):c.1194+10G>T
|
|
|
NM_000152.5(GAA):c.1194+11G>T
|
|
|
NM_000152.5(GAA):c.1194+13G>A
|
|
|
NM_000152.5(GAA):c.1194+15T>A
|
|
|
NM_000152.5(GAA):c.1194+15T>C
|
|
|
NM_000152.5(GAA):c.1194+19dup
|
|
|
NM_000152.5(GAA):c.1194+20G>C
|
|
|
NM_000152.5(GAA):c.1194+8G>T
|
rs2143856250
|
|
NM_000152.5(GAA):c.1194+9G>A
|
|
|
NM_000152.5(GAA):c.1194+9G>T
|
|
|
NM_000152.5(GAA):c.1195-15G>C
|
rs373840229
|
|
NM_000152.5(GAA):c.1195-16C>T
|
|
|
NM_000152.5(GAA):c.1195-17C>G
|
|
|
NM_000152.5(GAA):c.1195-18C>A
|
|
|
NM_000152.5(GAA):c.1195-19T>C
|
|
|
NM_000152.5(GAA):c.1195-4G>A
|
|
|
NM_000152.5(GAA):c.1195-5T>C
|
rs2143856963
|
|
NM_000152.5(GAA):c.1195-7del
|
|
|
NM_000152.5(GAA):c.1195-9T>C
|
rs2143856933
|
|
NM_000152.5(GAA):c.1200C>T (p.Val400=)
|
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
|
rs2143857187
|
|
NM_000152.5(GAA):c.1215G>A (p.Leu405=)
|
|
|
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
|
rs2039157400
|
|
NM_000152.5(GAA):c.1230C>A (p.Ser410=)
|
rs746340075
|
|
NM_000152.5(GAA):c.1234A>C (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1236G>A (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
|
rs2039158556
|
|
NM_000152.5(GAA):c.1260C>A (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.1260C>G (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.126G>C (p.Leu42=)
|
rs2143825047
|
|
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
|
|
|
NM_000152.5(GAA):c.1284G>T (p.Val428=)
|
rs2143857912
|
|
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
|
rs1172862164
|
|
NM_000152.5(GAA):c.1296C>T (p.His432=)
|
rs2143858058
|
|
NM_000152.5(GAA):c.1306C>A (p.Arg436=)
|
|
|
NM_000152.5(GAA):c.1311C>T (p.Arg437=)
|
rs1234415461
|
|
NM_000152.5(GAA):c.1314C>T (p.Tyr438=)
|
|
|
NM_000152.5(GAA):c.1323C>A (p.Ile441=)
|
|
|
NM_000152.5(GAA):c.1326+12C>G
|
|
|
NM_000152.5(GAA):c.1326+15A>G
|
rs2143858786
|
|
NM_000152.5(GAA):c.1326+16C>G
|
|
|
NM_000152.5(GAA):c.1326+16C>T
|
|
|
NM_000152.5(GAA):c.1326+20G>T
|
rs774138443
|
|
NM_000152.5(GAA):c.1326+7G>A
|
|
|
NM_000152.5(GAA):c.1326+8C>G
|
|
|
NM_000152.5(GAA):c.1326+8C>T
|
rs762988038
|
|
NM_000152.5(GAA):c.1327-10C>T
|
|
|
NM_000152.5(GAA):c.1327-12C>T
|
|
|
NM_000152.5(GAA):c.1327-16G>A
|
|
|
NM_000152.5(GAA):c.1327-16G>T
|
rs1378637239
|
|
NM_000152.5(GAA):c.1327-18A>C
|
|
|
NM_000152.5(GAA):c.1327-19_1327-18inv
|
|
|
NM_000152.5(GAA):c.1327-20A>G
|
rs2143865452
|
|
NM_000152.5(GAA):c.1327-4C>T
|
|
|
NM_000152.5(GAA):c.1327-5C>A
|
rs1314883749
|
|
NM_000152.5(GAA):c.1327-5C>T
|
|
|
NM_000152.5(GAA):c.1327-8C>T
|
rs1598579967
|
|
NM_000152.5(GAA):c.1327-9T>C
|
|
|
NM_000152.5(GAA):c.132C>T (p.Gly44=)
|
rs2143825106
|
|
NM_000152.5(GAA):c.1341C>T (p.Ser447=)
|
|
|
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)
|
rs753483808
|
|
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
|
rs756938942
|
|
NM_000152.5(GAA):c.1359G>A (p.Gly453=)
|
rs2143866026
|
|
NM_000152.5(GAA):c.135C>T (p.Ser45=)
|
rs2143825187
|
|
NM_000152.5(GAA):c.1362C>T (p.Ser454=)
|
|
|
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
|
rs778121058
|
|
NM_000152.5(GAA):c.1386G>T (p.Leu462=)
|
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
NM_000152.5(GAA):c.1390A>C (p.Arg464=)
|
|
|
NM_000152.5(GAA):c.1392G>A (p.Arg464=)
|
rs372786811
|
|
NM_000152.5(GAA):c.1395G>A (p.Gly465=)
|
rs2143866655
|
|
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1422G>A (p.Gln474=)
|
|
|
NM_000152.5(GAA):c.1426C>T (p.Leu476=)
|
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
NM_000152.5(GAA):c.1437+16A>G
|
|
|
NM_000152.5(GAA):c.1437+16_1437+22dup
|
|
|
NM_000152.5(GAA):c.1437+18G>C
|
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
NM_000152.5(GAA):c.1437+20G>C
|
|
|
NM_000152.5(GAA):c.1437+20G>T
|
|
|
NM_000152.5(GAA):c.1437+7C>G
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+7C>T
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+8G>C
|
rs779194427
|
|
NM_000152.5(GAA):c.1438-12C>G
|
|
|
NM_000152.5(GAA):c.1438-12C>T
|
|
|
NM_000152.5(GAA):c.1438-13T>C
|
rs1598581379
|
|
NM_000152.5(GAA):c.1438-14C>T
|
|
|
NM_000152.5(GAA):c.1438-15_1438-1del
|
rs1567832762
|
|
NM_000152.5(GAA):c.1438-19G>A
|
|
|
NM_000152.5(GAA):c.1438-6G>C
|
rs1252384762
|
|
NM_000152.5(GAA):c.1438-7T>C
|
rs1484346995
|
|
NM_000152.5(GAA):c.1438-9G>C
|
|
|
NM_000152.5(GAA):c.1438-9G>T
|
rs202211401
|
|
NM_000152.5(GAA):c.1440A>G (p.Val480=)
|
rs1555600737
|
|
NM_000152.5(GAA):c.144C>T (p.Val48=)
|
rs1055575232
|
|
NM_000152.5(GAA):c.1455T>C (p.Thr485=)
|
rs774037839
|
|
NM_000152.5(GAA):c.1461C>T (p.Phe487=)
|
|
|
NM_000152.5(GAA):c.147G>A (p.Leu49=)
|
rs915625623
|
|
NM_000152.5(GAA):c.1486C>T (p.Leu496=)
|
rs1598581572
|
|
NM_000152.5(GAA):c.1509G>A (p.Val503=)
|
rs2143872732
|
|
NM_000152.5(GAA):c.1518C>T (p.Phe506=)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1527G>A (p.Gln509=)
|
|
|
NM_000152.5(GAA):c.1533C>G (p.Pro511=)
|
rs1598581655
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1551+10G>A
|
|
|
NM_000152.5(GAA):c.1551+10dup
|
rs2143873218
|
|
NM_000152.5(GAA):c.1551+11C>T
|
|
|
NM_000152.5(GAA):c.1551+15C>G
|
|
|
NM_000152.5(GAA):c.1551+20G>A
|
|
|
NM_000152.5(GAA):c.1551+7G>T
|
rs1340464172
|
|
NM_000152.5(GAA):c.1552-10del
|
|
|
NM_000152.5(GAA):c.1552-12C>A
|
rs2143873890
|
|
NM_000152.5(GAA):c.1552-16A>G
|
|
|
NM_000152.5(GAA):c.1552-20C>T
|
|
|
NM_000152.5(GAA):c.1552-7C>G
|
|
|
NM_000152.5(GAA):c.1552-7C>T
|
rs2039221235
|
|
NM_000152.5(GAA):c.1552-8T>C
|
rs2039221161
|
|
NM_000152.5(GAA):c.156T>A (p.Thr52=)
|
rs2143825403
|
|
NM_000152.5(GAA):c.1572C>T (p.Asn524=)
|
rs1417304813
|
|
NM_000152.5(GAA):c.159C>T (p.His53=)
|
rs2143825464
|
|
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
|
rs1241189076
|
|
NM_000152.5(GAA):c.1612C>T (p.Leu538=)
|
|
|
NM_000152.5(GAA):c.1632G>C (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1632G>T (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1636+10C>G
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+10C>T
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+11C>T
|
|
|
NM_000152.5(GAA):c.1636+12C>G
|
|
|
NM_000152.5(GAA):c.1636+12C>T
|
|
|
NM_000152.5(GAA):c.1636+15C>G
|
|
|
NM_000152.5(GAA):c.1636+15C>T
|
|
|
NM_000152.5(GAA):c.1636+15dup
|
rs765563836
|
|
NM_000152.5(GAA):c.1636+17C>T
|
rs1003384850
|
|
NM_000152.5(GAA):c.1636+18C>T
|
|
|
NM_000152.5(GAA):c.1636+19T>A
|
|
|
NM_000152.5(GAA):c.1636+7del
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
NM_000152.5(GAA):c.1637-11G>C
|
|
|
NM_000152.5(GAA):c.1637-19C>T
|
|
|
NM_000152.5(GAA):c.1637-9C>T
|
rs1598583515
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
|
rs747638133
|
|
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
|
rs2039246860
|
|
NM_000152.5(GAA):c.1668C>T (p.Thr556=)
|
rs1415372735
|
|
NM_000152.5(GAA):c.1671C>A (p.Ile557=)
|
|
|
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
|
rs2143882693
|
|
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
|
rs2143882734
|
|
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
|
rs2143882764
|
|
NM_000152.5(GAA):c.1686C>T (p.His562=)
|
|
|
NM_000152.5(GAA):c.1692T>C (p.Phe564=)
|
rs886043997
|
|
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
|
rs2143882915
|
|
NM_000152.5(GAA):c.1704C>T (p.His568=)
|
rs776882059
|
|
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
|
rs1405669960
|
|
NM_000152.5(GAA):c.1716C>T (p.His572=)
|
rs772962666
|
|
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1728C>G (p.Gly576=)
|
rs2143883499
|
|
NM_000152.5(GAA):c.1728C>T (p.Gly576=)
|
|
|
NM_000152.5(GAA):c.1731G>A (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1731G>T (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
NM_000152.5(GAA):c.1746C>T (p.Ala582=)
|
|
|
NM_000152.5(GAA):c.1752C>T (p.His584=)
|
|
|
NM_000152.5(GAA):c.1754+12G>T
|
|
|
NM_000152.5(GAA):c.1754+15C>T
|
|
|
NM_000152.5(GAA):c.1754+18C>T
|
|
|
NM_000152.5(GAA):c.1754+9C>G
|
rs1319204794
|
|
NM_000152.5(GAA):c.1755-12C>A
|
|
|
NM_000152.5(GAA):c.1755-16del
|
|
|
NM_000152.5(GAA):c.1755-17G>A
|
|
|
NM_000152.5(GAA):c.1755-19G>A
|
|
|
NM_000152.5(GAA):c.1755-20G>A
|
|
|
NM_000152.5(GAA):c.1755-5C>T
|
|
|
NM_000152.5(GAA):c.1755-8C>G
|
|
|
NM_000152.5(GAA):c.1755-9C>T
|
|
|
NM_000152.5(GAA):c.1758G>T (p.Ala586=)
|
rs79795428
|
|
NM_000152.5(GAA):c.1764G>A (p.Val588=)
|
rs2143887715
|
|
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
|
rs1317655623
|
|
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
|
rs1317655623
|
|
NM_000152.5(GAA):c.1782C>A (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1782C>T (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1791G>C (p.Val597=)
|
rs2039262436
|
|
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
|
rs761377657
|
|
NM_000152.5(GAA):c.1800C>T (p.Arg600=)
|
rs1598584611
|
|
NM_000152.5(GAA):c.1803G>T (p.Ser601=)
|
rs368993048
|
|
NM_000152.5(GAA):c.1806C>A (p.Thr602=)
|
rs1598584645
|
|
NM_000152.5(GAA):c.180C>G (p.Ala60=)
|
rs2039031609
|
|
NM_000152.5(GAA):c.1830C>A (p.Ala610=)
|
|
|
NM_000152.5(GAA):c.1833C>T (p.Gly611=)
|
|
|
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
|
rs373955374
|
|
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
NM_000152.5(GAA):c.1878C>T (p.Ser626=)
|
rs2143889719
|
|
NM_000152.5(GAA):c.1888+10T>C
|
|
|
NM_000152.5(GAA):c.1888+12C>A
|
|
|
NM_000152.5(GAA):c.1888+15G>A
|
|
|
NM_000152.5(GAA):c.1888+18G>A
|
rs1452309871
|
|
NM_000152.5(GAA):c.1888+18G>C
|
|
|
NM_000152.5(GAA):c.1888+20G>C
|
|
|
NM_000152.5(GAA):c.1888+49_1888+72del
|
rs1555601511
|
|
NM_000152.5(GAA):c.1888+51_1888+74del
|
rs1555601512
|
|
NM_000152.5(GAA):c.1889-12_1889-11del
|
rs777483558
|
|
NM_000152.5(GAA):c.1889-13T>C
|
|
|
NM_000152.5(GAA):c.1889-15A>T
|
|
|
NM_000152.5(GAA):c.1889-18C>G
|
|
|
NM_000152.5(GAA):c.1889-20G>A
|
|
|
NM_000152.5(GAA):c.1889-4C>T
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.1889-7C>T
|
|
|
NM_000152.5(GAA):c.1893C>T (p.Ile631=)
|
rs1598585395
|
|
NM_000152.5(GAA):c.1896G>T (p.Leu632=)
|
|
|
NM_000152.5(GAA):c.189A>C (p.Pro63=)
|
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
NM_000152.5(GAA):c.1902T>C (p.Phe634=)
|
|
|
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
|
rs1296740179
|
|
NM_000152.5(GAA):c.1908G>C (p.Leu636=)
|
|
|
NM_000152.5(GAA):c.1911G>A (p.Leu637=)
|
|
|
NM_000152.5(GAA):c.1914G>A (p.Gly638=)
|
rs1305357140
|
|
NM_000152.5(GAA):c.1926C>G (p.Val642=)
|
rs1346499760
|
|
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
|
rs28940868
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.1947C>T (p.Phe649=)
|
rs770248553
|
|
NM_000152.5(GAA):c.1948C>T (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.1950G>C (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.1953C>T (p.Gly651=)
|
|
|
NM_000152.5(GAA):c.1956C>T (p.Asn652=)
|
|
|
NM_000152.5(GAA):c.1962A>G (p.Ser654=)
|
rs2143892394
|
|
NM_000152.5(GAA):c.1971G>A (p.Leu657=)
|
|
|
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
|
rs2039278843
|
|
NM_000152.5(GAA):c.1989G>A (p.Gln663=)
|
rs1189531783
|
|
NM_000152.5(GAA):c.198G>A (p.Arg66=)
|
rs2143825886
|
|
NM_000152.5(GAA):c.2001C>T (p.Phe667=)
|
|
|
NM_000152.5(GAA):c.2004C>T (p.Tyr668=)
|
|
|
NM_000152.5(GAA):c.2007C>T (p.Pro669=)
|
|
|
NM_000152.5(GAA):c.2016G>A (p.Arg672=)
|
|
|
NM_000152.5(GAA):c.2019C>T (p.Asn673=)
|
|
|
NM_000152.5(GAA):c.2022C>T (p.His674=)
|
|
|
NM_000152.5(GAA):c.2028C>T (p.Ser676=)
|
rs1209690340
|
|
NM_000152.5(GAA):c.2029C>T (p.Leu677=)
|
rs1272817506
|
|
NM_000152.5(GAA):c.2040+11_2040+18dup
|
rs745338070
|
|
NM_000152.5(GAA):c.2040+13T>C
|
|
|
NM_000152.5(GAA):c.2040+14G>A
|
|
|
NM_000152.5(GAA):c.2040+15G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>T
|
|
|
NM_000152.5(GAA):c.2040+8G>C
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+8G>T
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+9G>A
|
|
|
NM_000152.5(GAA):c.2040+9G>C
|
|
|
NM_000152.5(GAA):c.2041-15C>G
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
NM_000152.5(GAA):c.2041-20T>C
|
|
|
NM_000152.5(GAA):c.2041-4G>A
|
rs775757700
|
|
NM_000152.5(GAA):c.2041-9G>A
|
rs912717099
|
|
NM_000152.5(GAA):c.2041-9G>T
|
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2043C>G (p.Pro681=)
|
|
|
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2049G>A (p.Glu683=)
|
|
|
NM_000152.5(GAA):c.204C>T (p.Ala68=)
|
rs2143825931
|
|
NM_000152.5(GAA):c.2052G>T (p.Pro684=)
|
rs546463058
|
|
NM_000152.5(GAA):c.2055C>T (p.Tyr685=)
|
rs750214208
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2070G>C (p.Pro690=)
|
|
|
NM_000152.5(GAA):c.207G>A (p.Gln69=)
|
rs2039032628
|
|
NM_000152.5(GAA):c.2082C>T (p.Ala694=)
|
|
|
NM_000152.5(GAA):c.2088G>A (p.Arg696=)
|
rs2143895840
|
|
NM_000152.5(GAA):c.2091G>A (p.Lys697=)
|
rs2143895855
|
|
NM_000152.5(GAA):c.2100C>A (p.Thr700=)
|
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2112A>G (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2115C>G (p.Leu705=)
|
|
|
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
|
rs372881095
|
|
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
|
rs1479318289
|
|
NM_000152.5(GAA):c.2121C>T (p.Pro707=)
|
|
|
NM_000152.5(GAA):c.2124C>T (p.His708=)
|
rs751187069
|
|
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
|
rs752233229
|
|
NM_000152.5(GAA):c.213C>T (p.His71=)
|
|
|
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2148C>G (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2154C>G (p.Val718=)
|
rs1800311
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2157G>C (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2157G>T (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
|
rs2143896953
|
|
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
|
|
|
NM_000152.5(GAA):c.2169G>A (p.Val723=)
|
|
|
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
|
rs2039292373
|
|
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
|
rs2143897169
|
|
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.2178C>G (p.Pro726=)
|
|
|
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.2185C>T (p.Leu729=)
|
|
|
NM_000152.5(GAA):c.2189+10_2189+11del
|
|
|
NM_000152.5(GAA):c.2189+16del
|
|
|
NM_000152.5(GAA):c.2189+9C>G
|
rs2039293292
|
|
NM_000152.5(GAA):c.2189+9C>T
|
rs2039293292
|
|
NM_000152.5(GAA):c.2190-16C>T
|
|
|
NM_000152.5(GAA):c.2190-20T>C
|
rs1485579975
|
|
NM_000152.5(GAA):c.2190-20T>G
|
|
|
NM_000152.5(GAA):c.2190-7C>G
|
|
|
NM_000152.5(GAA):c.2190-9C>A
|
|
|
NM_000152.5(GAA):c.2193C>T (p.Phe731=)
|
|
|
NM_000152.5(GAA):c.2196C>A (p.Pro732=)
|
rs915890435
|
|
NM_000152.5(GAA):c.21C>T (p.Pro7=)
|
rs2143823837
|
|
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
|
rs2143918429
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
NM_000152.5(GAA):c.2211C>G (p.Thr737=)
|
rs2143918476
|
|
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
|
rs2143918476
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
NM_000152.5(GAA):c.2220G>A (p.Val740=)
|
|
|
NM_000152.5(GAA):c.2223C>T (p.Asp741=)
|
rs767773929
|
|
NM_000152.5(GAA):c.2226C>T (p.His742=)
|
|
|
NM_000152.5(GAA):c.2229G>A (p.Gln743=)
|
rs2143918741
|
|
NM_000152.5(GAA):c.2232C>T (p.Leu744=)
|
|
|
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>C (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>T (p.Leu745=)
|
|
|
NM_000152.5(GAA):c.2244G>A (p.Glu748=)
|
|
|
NM_000152.5(GAA):c.2247C>A (p.Ala749=)
|
|
|
NM_000152.5(GAA):c.2248C>T (p.Leu750=)
|
rs2143919200
|
|
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
|
rs746873847
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2289G>C (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2304C>G (p.Pro768=)
|
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
|
rs2143920372
|
|
NM_000152.5(GAA):c.2331+12G>A
|
|
|
NM_000152.5(GAA):c.2331+12G>C
|
|
|
NM_000152.5(GAA):c.2331+12G>T
|
|
|
NM_000152.5(GAA):c.2331+14C>T
|
rs772727792
|
|
NM_000152.5(GAA):c.2331+17del
|
|
|
NM_000152.5(GAA):c.2331+19dup
|
|
|
NM_000152.5(GAA):c.2331+20G>T
|
|
|
NM_000152.5(GAA):c.2331+7C>G
|
|
|
NM_000152.5(GAA):c.2332-12A>G
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2332-5T>G
|
rs1276069832
|
|
NM_000152.5(GAA):c.2332-7C>A
|
|
|
NM_000152.5(GAA):c.2332-7C>T
|
|
|
NM_000152.5(GAA):c.2332-8C>T
|
rs2143924023
|
|
NM_000152.5(GAA):c.2332-9T>C
|
|
|
NM_000152.5(GAA):c.2337A>G (p.Pro779=)
|
rs1042838087
|
|
NM_000152.5(GAA):c.2349T>C (p.Leu783=)
|
|
|
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
|
rs2143924314
|
|
NM_000152.5(GAA):c.2358C>A (p.Leu786=)
|
|
|
NM_000152.5(GAA):c.2361A>G (p.Pro787=)
|
|
|
NM_000152.5(GAA):c.2364C>T (p.Pro788=)
|
|
|
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
|
rs1012503581
|
|
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
|
|
|
NM_000152.5(GAA):c.237C>T (p.Pro79=)
|
|
|
NM_000152.5(GAA):c.2385G>A (p.Glu795=)
|
rs1333952509
|
|
NM_000152.5(GAA):c.2388A>G (p.Pro796=)
|
|
|
NM_000152.5(GAA):c.2391C>G (p.Ala797=)
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
|
rs2143924963
|
|
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
|
rs778506693
|
|
NM_000152.5(GAA):c.2415G>T (p.Val805=)
|
rs150536507
|
|
NM_000152.5(GAA):c.2418G>T (p.Thr806=)
|
rs371528938
|
|
NM_000152.5(GAA):c.2427C>T (p.Ala809=)
|
rs766325117
|
|
NM_000152.5(GAA):c.2430C>G (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2439C>A (p.Thr813=)
|
|
|
NM_000152.5(GAA):c.2439C>T (p.Thr813=)
|
rs2143925559
|
|
NM_000152.5(GAA):c.2442C>T (p.Ile814=)
|
|
|
NM_000152.5(GAA):c.2451C>T (p.His817=)
|
rs753382861
|
|
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
|
rs2039389205
|
|
NM_000152.5(GAA):c.2469C>T (p.Ile823=)
|
|
|
NM_000152.5(GAA):c.2472C>A (p.Ile824=)
|
|
|
NM_000152.5(GAA):c.2472C>T (p.Ile824=)
|
rs2039389492
|
|
NM_000152.5(GAA):c.2475C>T (p.Pro825=)
|
|
|
NM_000152.5(GAA):c.2481+10C>A
|
|
|
NM_000152.5(GAA):c.2481+20A>G
|
|
|
NM_000152.5(GAA):c.2481+7G>A
|
rs770240317
|
|
NM_000152.5(GAA):c.2481+8G>T
|
|
|
NM_000152.5(GAA):c.2482-12T>C
|
|
|
NM_000152.5(GAA):c.2482-16G>A
|
|
|
NM_000152.5(GAA):c.2482-17T>C
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
NM_000152.5(GAA):c.2482-8C>A
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>G
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>T
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-9C>A
|
|
|
NM_000152.5(GAA):c.2482-9C>T
|
rs753210535
|
|
NM_000152.5(GAA):c.2496A>C (p.Thr832=)
|
|
|
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
|
rs2143929451
|
|
NM_000152.5(GAA):c.24C>T (p.Cys8=)
|
|
|
NM_000152.5(GAA):c.2511C>T (p.Arg837=)
|
|
|
NM_000152.5(GAA):c.2517G>A (p.Gln839=)
|
|
|
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
|
rs1054395487
|
|
NM_000152.5(GAA):c.2526C>G (p.Ala842=)
|
rs886038259
|
|
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
|
rs2039403061
|
|
NM_000152.5(GAA):c.2529G>C (p.Leu843=)
|
|
|
NM_000152.5(GAA):c.252C>A (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.252C>T (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.2539C>T (p.Leu847=)
|
|
|
NM_000152.5(GAA):c.2544C>G (p.Thr848=)
|
|
|
NM_000152.5(GAA):c.2547G>A (p.Lys849=)
|
|
|
NM_000152.5(GAA):c.2550T>G (p.Gly850=)
|
rs761608706
|
|
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
|
rs1042397
|
|
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
|
rs2143930088
|
|
NM_000152.5(GAA):c.255C>G (p.Pro85=)
|
rs1448106804
|
|
NM_000152.5(GAA):c.2571G>A (p.Leu857=)
|
|
|
NM_000152.5(GAA):c.2583T>C (p.Asp861=)
|
|
|
NM_000152.5(GAA):c.258C>G (p.Pro86=)
|
|
|
NM_000152.5(GAA):c.2593C>T (p.Leu865=)
|
rs2143930457
|
|
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
|
rs2143930470
|
|
NM_000152.5(GAA):c.2598A>G (p.Glu866=)
|
|
|
NM_000152.5(GAA):c.2604G>T (p.Leu868=)
|
rs772250523
|
|
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
|
rs780321415
|
|
NM_000152.5(GAA):c.2616C>T (p.Ala872=)
|
|
|
NM_000152.5(GAA):c.2625G>A (p.Gln875=)
|
rs2039406110
|
|
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
|
rs1160268139
|
|
NM_000152.5(GAA):c.2646+12G>A
|
|
|
NM_000152.5(GAA):c.2646+19C>T
|
|
|
NM_000152.5(GAA):c.2646+7C>G
|
rs2143931099
|
|
NM_000152.5(GAA):c.2646+7C>T
|
|
|
NM_000152.5(GAA):c.2646+8C>T
|
|
|
NM_000152.5(GAA):c.2646+8del
|
rs2039406901
|
|
NM_000152.5(GAA):c.2646+9T>C
|
rs1231487778
|
|
NM_000152.5(GAA):c.2647-10C>T
|
rs2143933140
|
|
NM_000152.5(GAA):c.2647-11G>C
|
rs2039413131
|
|
NM_000152.5(GAA):c.2647-12T>C
|
|
|
NM_000152.5(GAA):c.2647-12dup
|
|
|
NM_000152.5(GAA):c.2647-14T>A
|
|
|
NM_000152.5(GAA):c.2647-15C>G
|
rs1567840763
|
|
NM_000152.5(GAA):c.2647-17C>G
|
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
NM_000152.5(GAA):c.2647-25_2647-18del
|
|
|
NM_000152.5(GAA):c.2647-4C>T
|
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.2647-7G>C
|
|
|
NM_000152.5(GAA):c.2647-7G>T
|
|
|
NM_000152.5(GAA):c.2647-8C>G
|
rs139201641
|
|
NM_000152.5(GAA):c.2652G>C (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2652G>T (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2655C>A (p.Ile885=)
|
rs774840779
|
|
NM_000152.5(GAA):c.2658G>T (p.Val886=)
|
|
|
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
|
rs750939444
|
|
NM_000152.5(GAA):c.2676G>A (p.Val892=)
|
|
|
NM_000152.5(GAA):c.267C>T (p.Arg89=)
|
rs2039036067
|
|
NM_000152.5(GAA):c.2695C>T (p.Leu899=)
|
|
|
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
|
rs2143933626
|
|
NM_000152.5(GAA):c.2703G>A (p.Leu901=)
|
rs2143933710
|
|
NM_000152.5(GAA):c.2706G>A (p.Gln902=)
|
rs2039415234
|
|
NM_000152.5(GAA):c.2718C>T (p.Val906=)
|
|
|
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
|
rs2143933909
|
|
NM_000152.5(GAA):c.2730C>A (p.Ala910=)
|
rs2143934007
|
|
NM_000152.5(GAA):c.2733G>A (p.Thr911=)
|
|
|
NM_000152.5(GAA):c.2736G>T (p.Ala912=)
|
|
|
NM_000152.5(GAA):c.2739C>T (p.Pro913=)
|
rs370765733
|
|
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
|
|
|
NM_000152.5(GAA):c.2754C>A (p.Ser918=)
|
rs1598594382
|
|
NM_000152.5(GAA):c.2760T>C (p.Gly920=)
|
|
|
NM_000152.5(GAA):c.2766T>C (p.Pro922=)
|
rs2143934535
|
|
NM_000152.5(GAA):c.2769C>A (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.2769C>T (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.2772C>G (p.Ser924=)
|
|
|
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
|
rs2039417635
|
|
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
|
|
|
NM_000152.5(GAA):c.2784C>T (p.Tyr928=)
|
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
|
rs1439341909
|
|
NM_000152.5(GAA):c.2796C>T (p.Thr932=)
|
rs2143934830
|
|
NM_000152.5(GAA):c.2799+10C>G
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+10C>T
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+12C>T
|
|
|
NM_000152.5(GAA):c.2799+13A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>G
|
|
|
NM_000152.5(GAA):c.2799+16G>A
|
|
|
NM_000152.5(GAA):c.2799+17T>C
|
|
|
NM_000152.5(GAA):c.2799+18G>A
|
rs779034370
|
|
NM_000152.5(GAA):c.2799+18G>T
|
|
|
NM_000152.5(GAA):c.2800-10T>C
|
rs2143938123
|
|
NM_000152.5(GAA):c.2800-11C>T
|
|
|
NM_000152.5(GAA):c.2800-13del
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-16G>A
|
|
|
NM_000152.5(GAA):c.2800-20T>A
|
|
|
NM_000152.5(GAA):c.2800-6T>C
|
rs2143938183
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.2800-9C>T
|
|
|
NM_000152.5(GAA):c.2817C>T (p.Val939=)
|
rs2143938445
|
|
NM_000152.5(GAA):c.2820G>C (p.Ser940=)
|
|
|
NM_000152.5(GAA):c.2821C>T (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2824T>C (p.Leu942=)
|
rs780885711
|
|
NM_000152.5(GAA):c.2826G>A (p.Leu942=)
|
rs866970316
|
|
NM_000152.5(GAA):c.282T>C (p.Pro94=)
|
|
|
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
|
|
|
NM_000152.5(GAA):c.2859G>A (p.Ter953=)
|
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
NM_000152.5(GAA):c.300G>A (p.Gln100=)
|
rs2143827134
|
|
NM_000152.5(GAA):c.303A>G (p.Glu101=)
|
rs2143827161
|
|
NM_000152.5(GAA):c.30C>T (p.His10=)
|
|
|
NM_000152.5(GAA):c.318C>A (p.Arg106=)
|
|
|
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
|
|
|
NM_000152.5(GAA):c.333C>T (p.Ile111=)
|
|
|
NM_000152.5(GAA):c.348G>T (p.Gly116=)
|
rs2143827789
|
|
NM_000152.5(GAA):c.354G>A (p.Gln118=)
|
|
|
NM_000152.5(GAA):c.357A>C (p.Gly119=)
|
|
|
NM_000152.5(GAA):c.381C>T (p.Cys127=)
|
|
|
NM_000152.5(GAA):c.393C>G (p.Pro131=)
|
rs769276948
|
|
NM_000152.5(GAA):c.399C>T (p.Tyr133=)
|
|
|
NM_000152.5(GAA):c.411G>A (p.Lys137=)
|
|
|
NM_000152.5(GAA):c.414G>A (p.Leu138=)
|
|
|
NM_000152.5(GAA):c.423G>A (p.Leu141=)
|
|
|
NM_000152.5(GAA):c.423G>T (p.Leu141=)
|
rs2143828533
|
|
NM_000152.5(GAA):c.42C>T (p.Ala14=)
|
rs141377453
|
|
NM_000152.5(GAA):c.456G>C (p.Leu152=)
|
rs1477781307
|
|
NM_000152.5(GAA):c.468C>G (p.Thr156=)
|
rs145849611
|
|
NM_000152.5(GAA):c.480C>T (p.Phe160=)
|
|
|
NM_000152.5(GAA):c.498C>T (p.Thr166=)
|
|
|
NM_000152.5(GAA):c.499C>T (p.Leu167=)
|
|
|
NM_000152.5(GAA):c.501G>A (p.Leu167=)
|
rs1276415397
|
|
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=)
|
rs2143829361
|
|
NM_000152.5(GAA):c.502C>A (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.504G>T (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.513G>C (p.Val171=)
|
|
|
NM_000152.5(GAA):c.522G>A (p.Glu174=)
|
|
|
NM_000152.5(GAA):c.525T>C (p.Thr175=)
|
rs2039047153
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.534C>G (p.Arg178=)
|
rs765613378
|
|
NM_000152.5(GAA):c.543C>T (p.Phe181=)
|
rs1567826499
|
|
NM_000152.5(GAA):c.546+10G>A
|
|
|
NM_000152.5(GAA):c.546+12_546+17del
|
rs1567826548
|
|
NM_000152.5(GAA):c.546+12_546+17dup
|
|
|
NM_000152.5(GAA):c.546+13GGGGCG[3]
|
|
|
NM_000152.5(GAA):c.546+16G>A
|
|
|
NM_000152.5(GAA):c.546+16G>C
|
rs1043184942
|
|
NM_000152.5(GAA):c.546+16G>T
|
|
|
NM_000152.5(GAA):c.546+20G>A
|
|
|
NM_000152.5(GAA):c.546+20_546+25del
|
|
|
NM_000152.5(GAA):c.546+3GGGCA[3]
|
|
|
NM_000152.5(GAA):c.546+7A>G
|
rs1329049814
|
|
NM_000152.5(GAA):c.546+7_546+12del
|
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
NM_000152.5(GAA):c.546+9G>A
|
rs2143829950
|
|
NM_000152.5(GAA):c.547-15C>T
|
|
|
NM_000152.5(GAA):c.547-16C>G
|
|
|
NM_000152.5(GAA):c.547-4C>A
|
rs3816256
|
|
NM_000152.5(GAA):c.547-9C>T
|
rs746507322
|
|
NM_000152.5(GAA):c.54C>G (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.552A>G (p.Lys184=)
|
|
|
NM_000152.5(GAA):c.561T>A (p.Ala187=)
|
|
|
NM_000152.5(GAA):c.564C>T (p.Asn188=)
|
rs2039068461
|
|
NM_000152.5(GAA):c.567G>A (p.Arg189=)
|
|
|
NM_000152.5(GAA):c.573C>T (p.Tyr191=)
|
rs376229714
|
|
NM_000152.5(GAA):c.579G>A (p.Val193=)
|
rs764299738
|
|
NM_000152.5(GAA):c.583T>C (p.Leu195=)
|
rs1323831512
|
|
NM_000152.5(GAA):c.594G>C (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.594G>T (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.609G>T (p.Arg203=)
|
|
|
NM_000152.5(GAA):c.612A>G (p.Ala204=)
|
|
|
NM_000152.5(GAA):c.618C>A (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.618C>G (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.621A>C (p.Pro207=)
|
|
|
NM_000152.5(GAA):c.624C>G (p.Leu208=)
|
rs2143834295
|
|
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
|
rs1460607546
|
|
NM_000152.5(GAA):c.633G>A (p.Val211=)
|
rs2143834416
|
|
NM_000152.5(GAA):c.639C>T (p.Phe213=)
|
rs2143834450
|
|
NM_000152.5(GAA):c.642C>A (p.Ser214=)
|
rs1800301
|
|
NM_000152.5(GAA):c.651C>A (p.Pro217=)
|
rs2039072589
|
|
NM_000152.5(GAA):c.657G>A (p.Gly219=)
|
rs2039072905
|
|
NM_000152.5(GAA):c.663C>A (p.Ile221=)
|
rs142878958
|
|
NM_000152.5(GAA):c.666G>A (p.Val222=)
|
|
|
NM_000152.5(GAA):c.678G>T (p.Leu226=)
|
|
|
NM_000152.5(GAA):c.684C>T (p.Gly228=)
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.692+11G>C
|
|
|
NM_000152.5(GAA):c.692+12G>A
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+12G>T
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+17G>A
|
|
|
NM_000152.5(GAA):c.692+20C>T
|
|
|
NM_000152.5(GAA):c.692+8C>G
|
|
|
NM_000152.5(GAA):c.693-10T>C
|
rs2143845612
|
|
NM_000152.5(GAA):c.693-11C>G
|
|
|
NM_000152.5(GAA):c.693-13C>T
|
rs760379754
|
|
NM_000152.5(GAA):c.693-14C>T
|
|
|
NM_000152.5(GAA):c.693-15G>A
|
|
|
NM_000152.5(GAA):c.693-19G>C
|
rs1271276827
|
|
NM_000152.5(GAA):c.693-19G>T
|
|
|
NM_000152.5(GAA):c.693-20G>A
|
|
|
NM_000152.5(GAA):c.693-4G>A
|
rs200088236
|
|
NM_000152.5(GAA):c.693-5del
|
rs1555599563
|
|
NM_000152.5(GAA):c.693-6C>G
|
|
|
NM_000152.5(GAA):c.693-6C>T
|
rs2143845646
|
|
NM_000152.5(GAA):c.693-7C>T
|
|
|
NM_000152.5(GAA):c.693-9G>C
|
|
|
NM_000152.5(GAA):c.69C>A (p.Thr23=)
|
rs746351336
|
|
NM_000152.5(GAA):c.708G>A (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.708G>T (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.711G>C (p.Ala237=)
|
|
|
NM_000152.5(GAA):c.714C>A (p.Pro238=)
|
|
|
NM_000152.5(GAA):c.717G>T (p.Leu239=)
|
|
|
NM_000152.5(GAA):c.723T>C (p.Phe241=)
|
|
|
NM_000152.5(GAA):c.726G>C (p.Ala242=)
|
rs148578399
|
|
NM_000152.5(GAA):c.729C>T (p.Asp243=)
|
|
|
NM_000152.5(GAA):c.735C>T (p.Phe245=)
|
rs1264222457
|
|
NM_000152.5(GAA):c.741G>A (p.Gln247=)
|
|
|
NM_000152.5(GAA):c.742C>T (p.Leu248=)
|
|
|
NM_000152.5(GAA):c.747C>G (p.Ser249=)
|
|
|
NM_000152.5(GAA):c.747C>T (p.Ser249=)
|
rs1555599614
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
NM_000152.5(GAA):c.753G>A (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.753G>T (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.754C>T (p.Leu252=)
|
rs1598575013
|
|
NM_000152.5(GAA):c.756G>A (p.Leu252=)
|
|
|
NM_000152.5(GAA):c.759C>T (p.Pro253=)
|
rs1352216789
|
|
NM_000152.5(GAA):c.75A>C (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>G (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>T (p.Ala25=)
|
|
|
NM_000152.5(GAA):c.765G>A (p.Gln255=)
|
rs1450999199
|
|
NM_000152.5(GAA):c.774A>C (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.774A>G (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.777C>G (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.777C>T (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.783C>A (p.Ala261=)
|
rs757356178
|
|
NM_000152.5(GAA):c.786G>A (p.Glu262=)
|
|
|
NM_000152.5(GAA):c.789C>T (p.His263=)
|
rs1336545018
|
|
NM_000152.5(GAA):c.78C>T (p.Leu26=)
|
rs2143824668
|
|
NM_000152.5(GAA):c.792C>G (p.Leu264=)
|
rs2143846838
|
|
NM_000152.5(GAA):c.792C>T (p.Leu264=)
|
|
|
NM_000152.5(GAA):c.79C>T (p.Leu27=)
|
rs538605208
|
|
NM_000152.5(GAA):c.807C>G (p.Leu269=)
|
|
|
NM_000152.5(GAA):c.816C>T (p.Ser272=)
|
rs1405999158
|
|
NM_000152.5(GAA):c.822C>T (p.Thr274=)
|
|
|
NM_000152.5(GAA):c.841C>A (p.Arg281=)
|
|
|
NM_000152.5(GAA):c.846C>T (p.Asp282=)
|
rs1008936778
|
|
NM_000152.5(GAA):c.849T>C (p.Leu283=)
|
rs2143847519
|
|
NM_000152.5(GAA):c.84G>A (p.Gly28=)
|
rs769733901
|
|
NM_000152.5(GAA):c.84G>C (p.Gly28=)
|
|
|
NM_000152.5(GAA):c.858+10C>A
|
rs758283022
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+11G>A
|
rs1464849313
|
|
NM_000152.5(GAA):c.858+12G>C
|
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+19G>T
|
|
|
NM_000152.5(GAA):c.858+20G>T
|
|
|
NM_000152.5(GAA):c.858+5_858+11dup
|
rs2039124972
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
NM_000152.5(GAA):c.858+9G>A
|
|
|
NM_000152.5(GAA):c.859-14C>G
|
|
|
NM_000152.5(GAA):c.859-14C>T
|
|
|
NM_000152.5(GAA):c.859-16C>A
|
|
|
NM_000152.5(GAA):c.859-18G>C
|
|
|
NM_000152.5(GAA):c.859-20C>T
|
|
|
NM_000152.5(GAA):c.859-4C>G
|
|
|
NM_000152.5(GAA):c.859-4C>T
|
rs749017942
|
|
NM_000152.5(GAA):c.859-5C>T
|
rs2143848848
|
|
NM_000152.5(GAA):c.859-7G>A
|
|
|
NM_000152.5(GAA):c.859-9A>G
|
rs888669731
|
|
NM_000152.5(GAA):c.861C>G (p.Pro287=)
|
|
|
NM_000152.5(GAA):c.867G>T (p.Ala289=)
|
rs534515557
|
|
NM_000152.5(GAA):c.870C>T (p.Asn290=)
|
|
|
NM_000152.5(GAA):c.873C>T (p.Leu291=)
|
rs1598575713
|
|
NM_000152.5(GAA):c.879G>A (p.Gly293=)
|
rs2143849260
|
|
NM_000152.5(GAA):c.87C>T (p.His29=)
|
|
|
NM_000152.5(GAA):c.894C>T (p.Tyr298=)
|
|
|
NM_000152.5(GAA):c.897G>C (p.Leu299=)
|
|
|
NM_000152.5(GAA):c.900G>C (p.Ala300=)
|
|
|
NM_000152.5(GAA):c.900G>T (p.Ala300=)
|
rs759425304
|
|
NM_000152.5(GAA):c.915G>T (p.Gly305=)
|
|
|
NM_000152.5(GAA):c.91C>T (p.Leu31=)
|
rs1295278849
|
|
NM_000152.5(GAA):c.921A>C (p.Ala307=)
|
rs1800303
|
|
NM_000152.5(GAA):c.927G>T (p.Gly309=)
|
rs886043779
|
|
NM_000152.5(GAA):c.930G>A (p.Val310=)
|
rs2143849884
|
|
NM_000152.5(GAA):c.934C>T (p.Leu312=)
|
|
|
NM_000152.5(GAA):c.936G>A (p.Leu312=)
|
rs1456154347
|
|
NM_000152.5(GAA):c.942C>T (p.Asn314=)
|
rs2143850004
|
|
NM_000152.5(GAA):c.955+10C>A
|
rs2143850207
|
|
NM_000152.5(GAA):c.955+11C>G
|
|
|
NM_000152.5(GAA):c.955+11C>T
|
|
|
NM_000152.5(GAA):c.955+12_955+18del
|
|
|
NM_000152.5(GAA):c.955+13C>T
|
|
|
NM_000152.5(GAA):c.955+14C>T
|
rs756921041
|
|
NM_000152.5(GAA):c.955+17C>T
|
rs2143850296
|
|
NM_000152.5(GAA):c.955+18C>T
|
|
|
NM_000152.5(GAA):c.955+19A>G
|
|
|
NM_000152.5(GAA):c.955+20G>C
|
|
|
NM_000152.5(GAA):c.955+43G>C
|
|
|
NM_000152.5(GAA):c.955+9C>T
|
|
|
NM_000152.5(GAA):c.956-11T>C
|
rs2143852431
|
|
NM_000152.5(GAA):c.956-13G>T
|
|
|
NM_000152.5(GAA):c.956-17A>T
|
rs2039141211
|
|
NM_000152.5(GAA):c.956-4C>T
|
rs2143852512
|
|
NM_000152.5(GAA):c.956-7C>G
|
|
|
NM_000152.5(GAA):c.956-8C>T
|
rs369149976
|
|
NM_000152.5(GAA):c.966G>A (p.Leu322=)
|
rs1197362128
|
|
NM_000152.5(GAA):c.96C>G (p.Leu32=)
|
rs1598569164
|
|
NM_000152.5(GAA):c.972G>C (p.Pro324=)
|
rs763445243
|
|
NM_000152.5(GAA):c.996G>T (p.Ser332=)
|
rs779266179
|
|
NM_000152.5(GAA):c.999A>G (p.Thr333=)
|
rs1598576668
|
|