NM_000158.4(GBE1):c.-102C>T
|
rs78982329
|
0.12619
|
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)
|
rs2229520
|
0.01610
|
NM_000158.4(GBE1):c.*308C>T
|
rs141214861
|
0.00757
|
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)
|
rs28763904
|
0.00604
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)
|
rs186942296
|
0.00063
|
NM_000158.4(GBE1):c.24G>A (p.Ala8=)
|
rs28763906
|
0.00062
|
NM_000158.4(GBE1):c.1237-18C>T
|
rs368966861
|
0.00057
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_000158.4(GBE1):c.1713C>T (p.Asp571=)
|
rs373148836
|
0.00046
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)
|
rs377305989
|
0.00037
|
NM_000158.4(GBE1):c.1080G>A (p.Thr360=)
|
rs200645261
|
0.00031
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)
|
rs201166587
|
0.00019
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
NM_000158.4(GBE1):c.993-19T>C
|
rs374576644
|
0.00012
|
NM_000158.4(GBE1):c.1722T>C (p.Leu574=)
|
rs367905308
|
0.00011
|
NM_000158.4(GBE1):c.1619-9G>A
|
rs745318242
|
0.00010
|
NM_000158.4(GBE1):c.691+15T>C
|
rs370417249
|
0.00009
|
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)
|
rs200544679
|
0.00008
|
NM_000158.4(GBE1):c.1995C>T (p.His665=)
|
rs201515305
|
0.00008
|
NM_000158.4(GBE1):c.1389G>A (p.Thr463=)
|
rs757933285
|
0.00007
|
NM_000158.4(GBE1):c.1965G>A (p.Ala655=)
|
rs762480067
|
0.00007
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
NM_000158.4(GBE1):c.108G>A (p.Pro36=)
|
rs775188750
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000158.4(GBE1):c.1414A>G (p.Lys472Glu)
|
rs749416254
|
0.00005
|
NM_000158.4(GBE1):c.1011C>T (p.Phe337=)
|
rs916259056
|
0.00004
|
NM_000158.4(GBE1):c.1168T>A (p.Leu390Met)
|
rs199821084
|
0.00004
|
NM_000158.4(GBE1):c.1209G>A (p.Leu403=)
|
rs763217252
|
0.00004
|
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
|
rs544906178
|
0.00004
|
NM_000158.4(GBE1):c.2088G>A (p.Gln696=)
|
rs577633008
|
0.00004
|
NM_000158.4(GBE1):c.231C>T (p.Gly77=)
|
rs375359843
|
0.00004
|
NM_000158.4(GBE1):c.669A>G (p.Val223=)
|
rs1014444694
|
0.00004
|
NM_000158.4(GBE1):c.993-20A>G
|
rs534036934
|
0.00004
|
NM_000158.4(GBE1):c.1038G>A (p.Leu346=)
|
rs772442784
|
0.00003
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
NM_000158.4(GBE1):c.1804-20_1804-19del
|
rs776287786
|
0.00003
|
NM_000158.4(GBE1):c.195T>C (p.Gly65=)
|
rs1399020199
|
0.00003
|
NM_000158.4(GBE1):c.450C>T (p.Ser150=)
|
rs766421967
|
0.00003
|
NM_000158.4(GBE1):c.501A>G (p.Glu167=)
|
rs778442735
|
0.00003
|
NM_000158.4(GBE1):c.1200T>C (p.Val400=)
|
rs1464112150
|
0.00002
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
NM_000158.4(GBE1):c.1215C>T (p.Pro405=)
|
rs373029683
|
0.00002
|
NM_000158.4(GBE1):c.1446+15G>T
|
rs752305746
|
0.00002
|
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)
|
rs377105672
|
0.00002
|
NM_000158.4(GBE1):c.279G>A (p.Pro93=)
|
rs76807363
|
0.00002
|
NM_000158.4(GBE1):c.460T>C (p.Leu154=)
|
rs1250639043
|
0.00002
|
NM_000158.4(GBE1):c.477G>A (p.Pro159=)
|
rs369676236
|
0.00002
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
NM_000158.4(GBE1):c.987C>T (p.Tyr329=)
|
rs573055138
|
0.00002
|
NM_000158.4(GBE1):c.102C>T (p.Ile34=)
|
rs764543442
|
0.00001
|
NM_000158.4(GBE1):c.105C>T (p.Asp35=)
|
rs1559712501
|
0.00001
|
NM_000158.4(GBE1):c.1083C>T (p.Ser361=)
|
rs377496485
|
0.00001
|
NM_000158.4(GBE1):c.1108+8A>T
|
rs961583898
|
0.00001
|
NM_000158.4(GBE1):c.1110T>C (p.Gly370=)
|
rs770335349
|
0.00001
|
NM_000158.4(GBE1):c.112T>C (p.Leu38=)
|
rs1050660548
|
0.00001
|
NM_000158.4(GBE1):c.1143C>T (p.Phe381=)
|
rs1385414901
|
0.00001
|
NM_000158.4(GBE1):c.114G>A (p.Leu38=)
|
rs932010631
|
0.00001
|
NM_000158.4(GBE1):c.1206G>A (p.Thr402=)
|
rs764245033
|
0.00001
|
NM_000158.4(GBE1):c.1242A>G (p.Val414=)
|
rs543823734
|
0.00001
|
NM_000158.4(GBE1):c.12G>A (p.Pro4=)
|
rs781086301
|
0.00001
|
NM_000158.4(GBE1):c.1302A>G (p.Arg434=)
|
rs532448572
|
0.00001
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
NM_000158.4(GBE1):c.1336-10T>G
|
rs749266678
|
0.00001
|
NM_000158.4(GBE1):c.143+9G>A
|
rs1267149365
|
0.00001
|
NM_000158.4(GBE1):c.1434G>A (p.Glu478=)
|
rs561832348
|
0.00001
|
NM_000158.4(GBE1):c.1446+18T>C
|
rs1013562114
|
0.00001
|
NM_000158.4(GBE1):c.1446+7G>T
|
rs1181307533
|
0.00001
|
NM_000158.4(GBE1):c.1473A>G (p.Ala491=)
|
rs748594311
|
0.00001
|
NM_000158.4(GBE1):c.1491C>T (p.Ala497=)
|
rs778539439
|
0.00001
|
NM_000158.4(GBE1):c.1512T>C (p.Ser504=)
|
rs779711697
|
0.00001
|
NM_000158.4(GBE1):c.1572A>G (p.Arg524=)
|
rs779517065
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.1587G>A (p.Gly529=)
|
rs1324484445
|
0.00001
|
NM_000158.4(GBE1):c.1619-16G>A
|
rs546023161
|
0.00001
|
NM_000158.4(GBE1):c.1635T>C (p.His545=)
|
rs780741533
|
0.00001
|
NM_000158.4(GBE1):c.1662A>G (p.Lys554=)
|
rs752672762
|
0.00001
|
NM_000158.4(GBE1):c.1719C>T (p.Asp573=)
|
rs922718313
|
0.00001
|
NM_000158.4(GBE1):c.1791T>C (p.Leu597=)
|
rs968014009
|
0.00001
|
NM_000158.4(GBE1):c.1804-20A>G
|
rs751552216
|
0.00001
|
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=)
|
rs765577833
|
0.00001
|
NM_000158.4(GBE1):c.1860T>C (p.Gly620=)
|
rs1473296120
|
0.00001
|
NM_000158.4(GBE1):c.1935-7G>T
|
rs1474858058
|
0.00001
|
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)
|
rs527789602
|
0.00001
|
NM_000158.4(GBE1):c.1977G>A (p.Gly659=)
|
rs764925200
|
0.00001
|
NM_000158.4(GBE1):c.1989G>A (p.Leu663=)
|
rs774275405
|
0.00001
|
NM_000158.4(GBE1):c.2001T>A (p.Thr667=)
|
rs1250842116
|
0.00001
|
NM_000158.4(GBE1):c.2053-10T>G
|
rs1576117487
|
0.00001
|
NM_000158.4(GBE1):c.2103G>A (p.Pro701=)
|
rs775617188
|
0.00001
|
NM_000158.4(GBE1):c.313+9T>C
|
rs772444966
|
0.00001
|
NM_000158.4(GBE1):c.327A>G (p.Pro109=)
|
rs1200105843
|
0.00001
|
NM_000158.4(GBE1):c.351G>T (p.Leu117=)
|
rs749666538
|
0.00001
|
NM_000158.4(GBE1):c.370C>T (p.Leu124=)
|
rs1383085103
|
0.00001
|
NM_000158.4(GBE1):c.453A>G (p.Gly151=)
|
rs751739447
|
0.00001
|
NM_000158.4(GBE1):c.483A>C (p.Ala161=)
|
rs1054018717
|
0.00001
|
NM_000158.4(GBE1):c.492G>A (p.Val164=)
|
rs1375785515
|
0.00001
|
NM_000158.4(GBE1):c.555+7A>G
|
rs766695292
|
0.00001
|
NM_000158.4(GBE1):c.576G>A (p.Lys192=)
|
rs762329960
|
0.00001
|
NM_000158.4(GBE1):c.609T>C (p.His203=)
|
rs1202435927
|
0.00001
|
NM_000158.4(GBE1):c.648T>C (p.Tyr216=)
|
rs1295929595
|
0.00001
|
NM_000158.4(GBE1):c.64C>T (p.Leu22=)
|
rs756999152
|
0.00001
|
NM_000158.4(GBE1):c.660A>G (p.Thr220=)
|
rs527746026
|
0.00001
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
NM_000158.4(GBE1):c.709T>C (p.Leu237=)
|
rs886038263
|
0.00001
|
NM_000158.4(GBE1):c.783-8A>G
|
rs1019962210
|
0.00001
|
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)
|
rs539925873
|
0.00001
|
NM_000158.4(GBE1):c.924C>T (p.Ser308=)
|
rs765783805
|
0.00001
|
NM_000158.4(GBE1):c.992+8C>T
|
rs779096891
|
0.00001
|
NM_000158.4(GBE1):c.-101C>T
|
rs886058903
|
|
NM_000158.4(GBE1):c.1005A>G (p.Leu335=)
|
rs1703918962
|
|
NM_000158.4(GBE1):c.1015C>T (p.Leu339=)
|
|
|
NM_000158.4(GBE1):c.1023C>T (p.Asn341=)
|
rs2106957100
|
|
NM_000158.4(GBE1):c.1026A>C (p.Ile342=)
|
|
|
NM_000158.4(GBE1):c.1044A>G (p.Glu348=)
|
rs1482348006
|
|
NM_000158.4(GBE1):c.1068T>C (p.Phe356=)
|
|
|
NM_000158.4(GBE1):c.1074T>C (p.Gly358=)
|
rs2106956989
|
|
NM_000158.4(GBE1):c.1077T>C (p.Val359=)
|
|
|
NM_000158.4(GBE1):c.108G>C (p.Pro36=)
|
|
|
NM_000158.4(GBE1):c.1098C>T (p.His366=)
|
|
|
NM_000158.4(GBE1):c.1108+10C>T
|
|
|
NM_000158.4(GBE1):c.1108+18A>G
|
|
|
NM_000158.4(GBE1):c.1108+7A>G
|
|
|
NM_000158.4(GBE1):c.1108+8del
|
rs2106956909
|
|
NM_000158.4(GBE1):c.1108+9C>T
|
|
|
NM_000158.4(GBE1):c.1109-13_1109-12del
|
|
|
NM_000158.4(GBE1):c.1109-20A>T
|
|
|
NM_000158.4(GBE1):c.1109-5del
|
|
|
NM_000158.4(GBE1):c.111C>T (p.Tyr37=)
|
|
|
NM_000158.4(GBE1):c.1134T>C (p.Ser378=)
|
rs36099971
|
|
NM_000158.4(GBE1):c.1146A>G (p.Gly382=)
|
rs2106952374
|
|
NM_000158.4(GBE1):c.1152A>G (p.Gln384=)
|
|
|
NM_000158.4(GBE1):c.1155A>G (p.Val385=)
|
|
|
NM_000158.4(GBE1):c.1161A>G (p.Glu387=)
|
rs1161376545
|
|
NM_000158.4(GBE1):c.1167C>T (p.Ala389=)
|
rs2106952325
|
|
NM_000158.4(GBE1):c.1168T>C (p.Leu390=)
|
|
|
NM_000158.4(GBE1):c.1173T>G (p.Thr391=)
|
rs1703871884
|
|
NM_000158.4(GBE1):c.1179C>G (p.Leu393=)
|
rs1703871746
|
|
NM_000158.4(GBE1):c.1179C>T (p.Leu393=)
|
|
|
NM_000158.4(GBE1):c.117G>A (p.Lys39=)
|
rs769399819
|
|
NM_000158.4(GBE1):c.1183T>C (p.Leu395=)
|
rs1269189934
|
|
NM_000158.4(GBE1):c.1188A>C (p.Ala396=)
|
|
|
NM_000158.4(GBE1):c.1203C>T (p.His401=)
|
|
|
NM_000158.4(GBE1):c.1215C>G (p.Pro405=)
|
|
|
NM_000158.4(GBE1):c.1227A>G (p.Thr409=)
|
|
|
NM_000158.4(GBE1):c.1236+10T>C
|
rs2106952130
|
|
NM_000158.4(GBE1):c.1236+11A>G
|
|
|
NM_000158.4(GBE1):c.1236+14G>A
|
|
|
NM_000158.4(GBE1):c.1236+18T>C
|
|
|
NM_000158.4(GBE1):c.1236+9A>G
|
|
|
NM_000158.4(GBE1):c.1237-14G>A
|
rs745815258
|
|
NM_000158.4(GBE1):c.1237-16A>G
|
|
|
NM_000158.4(GBE1):c.1237-17G>A
|
|
|
NM_000158.4(GBE1):c.1237-17G>C
|
|
|
NM_000158.4(GBE1):c.1237-18C>G
|
|
|
NM_000158.4(GBE1):c.1237-19C>A
|
|
|
NM_000158.4(GBE1):c.1237-19C>G
|
|
|
NM_000158.4(GBE1):c.1237-5dup
|
rs2106945329
|
|
NM_000158.4(GBE1):c.1237-7G>T
|
|
|
NM_000158.4(GBE1):c.123C>T (p.Tyr41=)
|
|
|
NM_000158.4(GBE1):c.1242A>T (p.Val414=)
|
|
|
NM_000158.4(GBE1):c.1245A>G (p.Ser415=)
|
|
|
NM_000158.4(GBE1):c.1260G>C (p.Leu420=)
|
rs1703800789
|
|
NM_000158.4(GBE1):c.1269A>G (p.Pro423=)
|
|
|
NM_000158.4(GBE1):c.126C>T (p.Ala42=)
|
|
|
NM_000158.4(GBE1):c.1284G>A (p.Gly428=)
|
rs1042856824
|
|
NM_000158.4(GBE1):c.1284G>T (p.Gly428=)
|
|
|
NM_000158.4(GBE1):c.129G>T (p.Val43=)
|
|
|
NM_000158.4(GBE1):c.12G>C (p.Pro4=)
|
rs781086301
|
|
NM_000158.4(GBE1):c.1314A>G (p.Ala438=)
|
|
|
NM_000158.4(GBE1):c.1335+10C>T
|
|
|
NM_000158.4(GBE1):c.1335+11A>G
|
|
|
NM_000158.4(GBE1):c.1335+11A>T
|
|
|
NM_000158.4(GBE1):c.1335+12T>C
|
|
|
NM_000158.4(GBE1):c.1335+14T>G
|
|
|
NM_000158.4(GBE1):c.1335+15A>G
|
|
|
NM_000158.4(GBE1):c.1335+17A>C
|
|
|
NM_000158.4(GBE1):c.1336-10_1336-9del
|
|
|
NM_000158.4(GBE1):c.1336-11C>A
|
|
|
NM_000158.4(GBE1):c.1336-13C>G
|
|
|
NM_000158.4(GBE1):c.1336-13C>T
|
|
|
NM_000158.4(GBE1):c.1336-19T>C
|
|
|
NM_000158.4(GBE1):c.1336-4C>T
|
|
|
NM_000158.4(GBE1):c.1336-5T>G
|
|
|
NM_000158.4(GBE1):c.1336-6G>A
|
|
|
NM_000158.4(GBE1):c.1336-7T>G
|
|
|
NM_000158.4(GBE1):c.1336-7dup
|
|
|
NM_000158.4(GBE1):c.1336-9T>C
|
|
|
NM_000158.4(GBE1):c.1344A>G (p.Lys448=)
|
rs2106938657
|
|
NM_000158.4(GBE1):c.135C>T (p.Phe45=)
|
rs777583603
|
|
NM_000158.4(GBE1):c.1362C>T (p.Asp454=)
|
rs2106938627
|
|
NM_000158.4(GBE1):c.1374C>A (p.Gly458=)
|
|
|
NM_000158.4(GBE1):c.1374C>T (p.Gly458=)
|
rs781667161
|
|
NM_000158.4(GBE1):c.1383A>G (p.Val461=)
|
rs2106938571
|
|
NM_000158.4(GBE1):c.1395A>G (p.Thr465=)
|
|
|
NM_000158.4(GBE1):c.1407C>T (p.Tyr469=)
|
|
|
NM_000158.4(GBE1):c.1410T>G (p.Leu470=)
|
|
|
NM_000158.4(GBE1):c.1413A>G (p.Glu471=)
|
rs2106938489
|
|
NM_000158.4(GBE1):c.1416G>A (p.Lys472=)
|
|
|
NM_000158.4(GBE1):c.1422T>C (p.Ile474=)
|
|
|
NM_000158.4(GBE1):c.143+14C>T
|
|
|
NM_000158.4(GBE1):c.143+16C>T
|
|
|
NM_000158.4(GBE1):c.143+18C>G
|
|
|
NM_000158.4(GBE1):c.143+19C>A
|
|
|
NM_000158.4(GBE1):c.143+20A>G
|
|
|
NM_000158.4(GBE1):c.143+8C>T
|
rs750447886
|
|
NM_000158.4(GBE1):c.1431A>G (p.Ala477=)
|
|
|
NM_000158.4(GBE1):c.1437C>T (p.Ser479=)
|
|
|
NM_000158.4(GBE1):c.144-12A>T
|
|
|
NM_000158.4(GBE1):c.144-15C>T
|
|
|
NM_000158.4(GBE1):c.1446+12T>C
|
|
|
NM_000158.4(GBE1):c.1446+20A>C
|
|
|
NM_000158.4(GBE1):c.1446+9A>C
|
|
|
NM_000158.4(GBE1):c.1447-15C>T
|
|
|
NM_000158.4(GBE1):c.1447-16A>G
|
|
|
NM_000158.4(GBE1):c.1447-19A>G
|
|
|
NM_000158.4(GBE1):c.1447-4G>A
|
|
|
NM_000158.4(GBE1):c.1447-4G>C
|
rs534847659
|
|
NM_000158.4(GBE1):c.1449A>T (p.Ala483=)
|
rs2106934011
|
|
NM_000158.4(GBE1):c.1458G>A (p.Gly486=)
|
|
|
NM_000158.4(GBE1):c.1464G>A (p.Lys488=)
|
|
|
NM_000158.4(GBE1):c.1467G>A (p.Ser489=)
|
rs1350341668
|
|
NM_000158.4(GBE1):c.1470G>A (p.Leu490=)
|
rs2106933948
|
|
NM_000158.4(GBE1):c.1491C>A (p.Ala497=)
|
|
|
NM_000158.4(GBE1):c.1491C>G (p.Ala497=)
|
rs778539439
|
|
NM_000158.4(GBE1):c.1494A>G (p.Glu498=)
|
rs2106933905
|
|
NM_000158.4(GBE1):c.153G>A (p.Gln51=)
|
|
|
NM_000158.4(GBE1):c.1542T>C (p.Asp514=)
|
|
|
NM_000158.4(GBE1):c.1545T>C (p.Arg515=)
|
|
|
NM_000158.4(GBE1):c.1548A>T (p.Gly516=)
|
|
|
NM_000158.4(GBE1):c.1554G>A (p.Gln518=)
|
|
|
NM_000158.4(GBE1):c.1569T>C (p.Ile523=)
|
rs1559650639
|
|
NM_000158.4(GBE1):c.1570C>A (p.Arg524=)
|
|
|
NM_000158.4(GBE1):c.1581G>T (p.Thr527=)
|
|
|
NM_000158.4(GBE1):c.1584T>C (p.His528=)
|
rs756678628
|
|
NM_000158.4(GBE1):c.159C>T (p.Ser53=)
|
rs1245333229
|
|
NM_000158.4(GBE1):c.1608C>T (p.Leu536=)
|
|
|
NM_000158.4(GBE1):c.1618+16A>T
|
|
|
NM_000158.4(GBE1):c.1618+20A>G
|
|
|
NM_000158.4(GBE1):c.1619-18A>C
|
|
|
NM_000158.4(GBE1):c.1619-18A>G
|
|
|
NM_000158.4(GBE1):c.1619-4_1619-3insGAATTTGG
|
|
|
NM_000158.4(GBE1):c.1632G>C (p.Gly544=)
|
|
|
NM_000158.4(GBE1):c.1638T>C (p.Pro546=)
|
rs2106872406
|
|
NM_000158.4(GBE1):c.1650C>T (p.Asp550=)
|
rs1281489436
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
NM_000158.4(GBE1):c.166T>C (p.Leu56=)
|
|
|
NM_000158.4(GBE1):c.1677T>C (p.Ser559=)
|
|
|
NM_000158.4(GBE1):c.1693C>A (p.Arg565=)
|
|
|
NM_000158.4(GBE1):c.1698G>A (p.Gln566=)
|
|
|
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg)
|
rs544821452
|
|
NM_000158.4(GBE1):c.1710T>G (p.Thr570=)
|
rs2106872244
|
|
NM_000158.4(GBE1):c.1725T>C (p.Leu575=)
|
|
|
NM_000158.4(GBE1):c.1728C>G (p.Arg576=)
|
|
|
NM_000158.4(GBE1):c.1731C>T (p.Tyr577=)
|
|
|
NM_000158.4(GBE1):c.1734G>A (p.Lys578=)
|
|
|
NM_000158.4(GBE1):c.1768T>C (p.Leu590=)
|
rs1033042780
|
|
NM_000158.4(GBE1):c.1770G>A (p.Leu590=)
|
rs1703083660
|
|
NM_000158.4(GBE1):c.1773A>G (p.Glu591=)
|
|
|
NM_000158.4(GBE1):c.1782T>C (p.Tyr594=)
|
rs2106872059
|
|
NM_000158.4(GBE1):c.1803+11C>T
|
|
|
NM_000158.4(GBE1):c.1803+17G>A
|
|
|
NM_000158.4(GBE1):c.1803+17G>T
|
|
|
NM_000158.4(GBE1):c.1803+18G>A
|
|
|
NM_000158.4(GBE1):c.1803+19A>T
|
|
|
NM_000158.4(GBE1):c.1804-13C>T
|
|
|
NM_000158.4(GBE1):c.1804-16G>A
|
|
|
NM_000158.4(GBE1):c.1804-16G>C
|
|
|
NM_000158.4(GBE1):c.1806C>A (p.Ala602=)
|
rs1343991404
|
|
NM_000158.4(GBE1):c.180A>C (p.Gly60=)
|
|
|
NM_000158.4(GBE1):c.1821A>G (p.Lys607=)
|
rs2106869704
|
|
NM_000158.4(GBE1):c.1836G>A (p.Lys612=)
|
|
|
NM_000158.4(GBE1):c.1839C>T (p.Ile613=)
|
rs535185036
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.1878C>T (p.Asn626=)
|
|
|
NM_000158.4(GBE1):c.1893G>A (p.Lys631=)
|
|
|
NM_000158.4(GBE1):c.18T>A (p.Thr6=)
|
rs2107250932
|
|
NM_000158.4(GBE1):c.18T>C (p.Thr6=)
|
rs2107250932
|
|
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
|
rs754115580
|
|
NM_000158.4(GBE1):c.1917A>G (p.Gly639=)
|
rs2106869498
|
|
NM_000158.4(GBE1):c.1929A>G (p.Pro643=)
|
|
|
NM_000158.4(GBE1):c.1934+12G>C
|
|
|
NM_000158.4(GBE1):c.1935-10A>G
|
rs755109777
|
|
NM_000158.4(GBE1):c.1935-14C>T
|
|
|
NM_000158.4(GBE1):c.1935-7G>C
|
rs1474858058
|
|
NM_000158.4(GBE1):c.1941A>G (p.Lys647=)
|
rs1039372291
|
|
NM_000158.4(GBE1):c.1950A>G (p.Leu650=)
|
rs2106809976
|
|
NM_000158.4(GBE1):c.1962A>G (p.Ala654=)
|
|
|
NM_000158.4(GBE1):c.1980T>C (p.His660=)
|
|
|
NM_000158.4(GBE1):c.1986A>G (p.Arg662=)
|
rs2106809904
|
|
NM_000158.4(GBE1):c.1989G>T (p.Leu663=)
|
|
|
NM_000158.4(GBE1):c.1992C>T (p.Asp664=)
|
rs780527478
|
|
NM_000158.4(GBE1):c.2004C>T (p.Asp668=)
|
rs757815784
|
|
NM_000158.4(GBE1):c.2028T>C (p.His676=)
|
rs2106809824
|
|
NM_000158.4(GBE1):c.2040C>T (p.Pro680=)
|
|
|
NM_000158.4(GBE1):c.2052+19A>G
|
|
|
NM_000158.4(GBE1):c.2052+20T>A
|
|
|
NM_000158.4(GBE1):c.2052+20T>C
|
|
|
NM_000158.4(GBE1):c.2053-19C>T
|
|
|
NM_000158.4(GBE1):c.2053-3350G>C
|
|
|
NM_000158.4(GBE1):c.2053-3351G>A
|
rs2106802092
|
|
NM_000158.4(GBE1):c.2053-3354G>T
|
|
|
NM_000158.4(GBE1):c.2053-3358G>T
|
rs1702468173
|
|
NM_000158.4(GBE1):c.2053-4G>A
|
rs185009612
|
|
NM_000158.4(GBE1):c.2053-4G>C
|
rs185009612
|
|
NM_000158.4(GBE1):c.2053-4G>T
|
rs185009612
|
|
NM_000158.4(GBE1):c.2053-5C>T
|
|
|
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)
|
rs2106796993
|
|
NM_000158.4(GBE1):c.2067C>T (p.Ser689=)
|
rs1173853844
|
|
NM_000158.4(GBE1):c.2073G>T (p.Val691=)
|
|
|
NM_000158.4(GBE1):c.2106T>C (p.Asn702=)
|
|
|
NM_000158.4(GBE1):c.211A>C (p.Arg71=)
|
rs1576206635
|
|
NM_000158.4(GBE1):c.249T>C (p.Asp83=)
|
|
|
NM_000158.4(GBE1):c.261C>T (p.Tyr87=)
|
|
|
NM_000158.4(GBE1):c.270A>G (p.Glu90=)
|
rs1576206589
|
|
NM_000158.4(GBE1):c.276C>T (p.Ala92=)
|
|
|
NM_000158.4(GBE1):c.303T>C (p.Thr101=)
|
rs2107168711
|
|
NM_000158.4(GBE1):c.309T>C (p.Asp103=)
|
rs2107168700
|
|
NM_000158.4(GBE1):c.313+10dup
|
rs2107168668
|
|
NM_000158.4(GBE1):c.313+16_313+17dup
|
|
|
NM_000158.4(GBE1):c.313+17A>G
|
|
|
NM_000158.4(GBE1):c.313+17A>T
|
|
|
NM_000158.4(GBE1):c.313+18T>C
|
|
|
NM_000158.4(GBE1):c.313+20G>T
|
|
|
NM_000158.4(GBE1):c.313+8C>G
|
rs773124221
|
|
NM_000158.4(GBE1):c.313+8C>T
|
|
|
NM_000158.4(GBE1):c.314-13T>C
|
|
|
NM_000158.4(GBE1):c.314-13_314-11del
|
|
|
NM_000158.4(GBE1):c.314-18T>C
|
|
|
NM_000158.4(GBE1):c.314-8T>A
|
rs2107114832
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.333G>C (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.333G>T (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.339A>C (p.Pro113=)
|
|
|
NM_000158.4(GBE1):c.339A>G (p.Pro113=)
|
rs1375726428
|
|
NM_000158.4(GBE1):c.33C>G (p.Pro11=)
|
rs773585404
|
|
NM_000158.4(GBE1):c.351G>A (p.Leu117=)
|
rs749666538
|
|
NM_000158.4(GBE1):c.369G>A (p.Glu123=)
|
rs2107114689
|
|
NM_000158.4(GBE1):c.36G>A (p.Glu12=)
|
rs1024161275
|
|
NM_000158.4(GBE1):c.378C>T (p.Ile126=)
|
|
|
NM_000158.4(GBE1):c.387G>A (p.Lys129=)
|
|
|
NM_000158.4(GBE1):c.429+12C>G
|
|
|
NM_000158.4(GBE1):c.429+12C>T
|
|
|
NM_000158.4(GBE1):c.429+13C>G
|
|
|
NM_000158.4(GBE1):c.429+18A>G
|
|
|
NM_000158.4(GBE1):c.429+8C>G
|
|
|
NM_000158.4(GBE1):c.429+9C>G
|
|
|
NM_000158.4(GBE1):c.429+9C>T
|
|
|
NM_000158.4(GBE1):c.42C>T (p.Tyr14=)
|
rs1328296506
|
|
NM_000158.4(GBE1):c.430-10C>T
|
|
|
NM_000158.4(GBE1):c.430-15T>C
|
|
|
NM_000158.4(GBE1):c.430-18A>G
|
|
|
NM_000158.4(GBE1):c.430-18A>T
|
|
|
NM_000158.4(GBE1):c.430-7T>C
|
|
|
NM_000158.4(GBE1):c.430-8C>T
|
|
|
NM_000158.4(GBE1):c.430-9T>C
|
|
|
NM_000158.4(GBE1):c.432A>G (p.Val144=)
|
rs2107074991
|
|
NM_000158.4(GBE1):c.441T>C (p.Thr147=)
|
|
|
NM_000158.4(GBE1):c.456G>A (p.Glu152=)
|
rs1364827182
|
|
NM_000158.4(GBE1):c.465T>C (p.Tyr155=)
|
rs2107074898
|
|
NM_000158.4(GBE1):c.477G>T (p.Pro159=)
|
|
|
NM_000158.4(GBE1):c.48G>A (p.Ala16=)
|
|
|
NM_000158.4(GBE1):c.498T>C (p.Arg166=)
|
|
|
NM_000158.4(GBE1):c.522T>C (p.Asp174=)
|
|
|
NM_000158.4(GBE1):c.543A>G (p.Glu181=)
|
|
|
NM_000158.4(GBE1):c.549A>C (p.Ser183=)
|
rs1489092127
|
|
NM_000158.4(GBE1):c.552T>C (p.Tyr184=)
|
rs1576185089
|
|
NM_000158.4(GBE1):c.555+10A>G
|
|
|
NM_000158.4(GBE1):c.555+11_555+19dup
|
|
|
NM_000158.4(GBE1):c.555+12A>C
|
|
|
NM_000158.4(GBE1):c.555+20A>G
|
|
|
NM_000158.4(GBE1):c.555+20A>T
|
|
|
NM_000158.4(GBE1):c.556-11A>T
|
|
|
NM_000158.4(GBE1):c.556-12T>C
|
|
|
NM_000158.4(GBE1):c.556-19A>G
|
|
|
NM_000158.4(GBE1):c.556-19A>T
|
|
|
NM_000158.4(GBE1):c.556-20C>T
|
|
|
NM_000158.4(GBE1):c.556-4G>A
|
rs377175400
|
|
NM_000158.4(GBE1):c.556-8T>C
|
|
|
NM_000158.4(GBE1):c.556-9A>G
|
rs756607435
|
|
NM_000158.4(GBE1):c.573A>G (p.Pro191=)
|
rs2107072385
|
|
NM_000158.4(GBE1):c.585G>A (p.Arg195=)
|
|
|
NM_000158.4(GBE1):c.603A>G (p.Glu201=)
|
|
|
NM_000158.4(GBE1):c.60C>A (p.Ala20=)
|
rs781174947
|
|
NM_000158.4(GBE1):c.612G>A (p.Val204=)
|
|
|
NM_000158.4(GBE1):c.627T>C (p.His209=)
|
rs1704806575
|
|
NM_000158.4(GBE1):c.636A>G (p.Lys212=)
|
|
|
NM_000158.4(GBE1):c.639A>G (p.Val213=)
|
|
|
NM_000158.4(GBE1):c.63C>T (p.Ala21=)
|
rs2107250762
|
|
NM_000158.4(GBE1):c.651A>G (p.Lys217=)
|
rs1704806079
|
|
NM_000158.4(GBE1):c.654T>C (p.His218=)
|
rs753853692
|
|
NM_000158.4(GBE1):c.666T>C (p.Asn222=)
|
|
|
NM_000158.4(GBE1):c.669A>T (p.Val223=)
|
|
|
NM_000158.4(GBE1):c.66G>A (p.Leu22=)
|
rs2107250748
|
|
NM_000158.4(GBE1):c.672A>G (p.Leu224=)
|
|
|
NM_000158.4(GBE1):c.691+15_691+16del
|
|
|
NM_000158.4(GBE1):c.691+8A>G
|
|
|
NM_000158.4(GBE1):c.692-10C>G
|
rs2107066201
|
|
NM_000158.4(GBE1):c.692-17A>G
|
|
|
NM_000158.4(GBE1):c.692-9dup
|
|
|
NM_000158.4(GBE1):c.693A>G (p.Gly231=)
|
|
|
NM_000158.4(GBE1):c.69T>C (p.Ala23=)
|
|
|
NM_000158.4(GBE1):c.6G>T (p.Ala2=)
|
|
|
NM_000158.4(GBE1):c.708G>A (p.Gln236=)
|
|
|
NM_000158.4(GBE1):c.720C>T (p.Ile240=)
|
|
|
NM_000158.4(GBE1):c.72C>T (p.Asp24=)
|
|
|
NM_000158.4(GBE1):c.75G>A (p.Val25=)
|
rs1390802875
|
|
NM_000158.4(GBE1):c.762A>G (p.Thr254=)
|
|
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NM_000158.4(GBE1):c.768C>T (p.Phe256=)
|
rs1480699088
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NM_000158.4(GBE1):c.774A>C (p.Ala258=)
|
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|
NM_000158.4(GBE1):c.782+18T>C
|
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|
NM_000158.4(GBE1):c.782+19T>C
|
|
|
NM_000158.4(GBE1):c.782+20G>A
|
|
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NM_000158.4(GBE1):c.783-11T>C
|
|
|
NM_000158.4(GBE1):c.783-12C>T
|
|
|
NM_000158.4(GBE1):c.783-7T>C
|
rs528473675
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NM_000158.4(GBE1):c.783-8A>C
|
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NM_000158.4(GBE1):c.789T>C (p.Tyr263=)
|
rs1559673593
|
|
NM_000158.4(GBE1):c.78C>G (p.Pro26=)
|
rs1575782131
|
|
NM_000158.4(GBE1):c.78C>T (p.Pro26=)
|
rs1575782131
|
|
NM_000158.4(GBE1):c.792A>G (p.Gly264=)
|
rs2107059886
|
|
NM_000158.4(GBE1):c.792A>T (p.Gly264=)
|
|
|
NM_000158.4(GBE1):c.804G>A (p.Glu268=)
|
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|
NM_000158.4(GBE1):c.805C>T (p.Leu269=)
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NM_000158.4(GBE1):c.807A>G (p.Leu269=)
|
rs760271506
|
|
NM_000158.4(GBE1):c.810A>G (p.Gln270=)
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|
|
NM_000158.4(GBE1):c.813A>G (p.Glu271=)
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|
|
NM_000158.4(GBE1):c.814C>T (p.Leu272=)
|
rs1217155813
|
|
NM_000158.4(GBE1):c.822C>T (p.Asp274=)
|
rs2107059776
|
|
NM_000158.4(GBE1):c.825A>G (p.Thr275=)
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|
|
NM_000158.4(GBE1):c.825A>T (p.Thr275=)
|
rs2107059770
|
|
NM_000158.4(GBE1):c.828T>C (p.Ala276=)
|
|
|
NM_000158.4(GBE1):c.82C>T (p.Leu28=)
|
|
|
NM_000158.4(GBE1):c.846A>C (p.Ile282=)
|
rs959259894
|
|
NM_000158.4(GBE1):c.849C>G (p.Val283=)
|
rs1704706491
|
|
NM_000158.4(GBE1):c.84G>A (p.Leu28=)
|
rs2107250695
|
|
NM_000158.4(GBE1):c.873T>C (p.His291=)
|
|
|
NM_000158.4(GBE1):c.876T>A (p.Ala292=)
|
rs778351872
|
|
NM_000158.4(GBE1):c.876T>C (p.Ala292=)
|
|
|
NM_000158.4(GBE1):c.885T>C (p.Asn295=)
|
|
|
NM_000158.4(GBE1):c.891A>G (p.Ala297=)
|
rs2107059577
|
|
NM_000158.4(GBE1):c.90A>G (p.Arg30=)
|
|
|
NM_000158.4(GBE1):c.915G>A (p.Gly305=)
|
|
|
NM_000158.4(GBE1):c.930T>C (p.Tyr310=)
|
|
|
NM_000158.4(GBE1):c.93C>G (p.Leu31=)
|
|
|
NM_000158.4(GBE1):c.942A>G (p.Gly314=)
|
rs2107059484
|
|
NM_000158.4(GBE1):c.945T>C (p.Pro315=)
|
rs2107059475
|
|
NM_000158.4(GBE1):c.951G>A (p.Gly317=)
|
rs1704704915
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000158.4(GBE1):c.992+14A>G
|
|
|
NM_000158.4(GBE1):c.992+18A>G
|
|
|
NM_000158.4(GBE1):c.993-10T>C
|
rs2106957202
|
|
NM_000158.4(GBE1):c.993-13T>C
|
|
|
NM_000158.4(GBE1):c.993-14C>T
|
|
|
NM_000158.4(GBE1):c.993-17T>A
|
|
|
NM_000158.4(GBE1):c.993-17T>C
|
|
|
NM_000158.4(GBE1):c.993-20A>C
|
|
|
NM_000158.4(GBE1):c.993-7A>T
|
rs1703919275
|
|
NM_000158.4(GBE1):c.993-9A>G
|
rs2106957192
|
|
NM_000158.4(GBE1):c.993-9A>T
|
rs2106957192
|
|
NM_000158.4(GBE1):c.99G>A (p.Glu33=)
|
rs2107250624
|
|
NM_000158.4(GBE1):c.9T>G (p.Ala3=)
|
|
|