NM_032520.5(GNPTG):c.178+186C>T
|
rs11865211
|
0.07224
|
NM_032520.5(GNPTG):c.318-34C>T
|
rs2072987
|
0.01446
|
NM_032520.5(GNPTG):c.233+7G>T
|
rs9926432
|
0.01285
|
NM_032520.5(GNPTG):c.412-17C>T
|
rs73487805
|
0.00730
|
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)
|
rs76594024
|
0.00606
|
NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly)
|
rs7187001
|
0.00332
|
NM_032520.5(GNPTG):c.*68G>T
|
rs60000415
|
0.00280
|
NM_032520.5(GNPTG):c.450T>G (p.His150Gln)
|
rs147109185
|
0.00252
|
NM_032520.5(GNPTG):c.318-18G>A
|
rs148378749
|
0.00190
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
NM_032520.5(GNPTG):c.233+35C>T
|
rs144929410
|
0.00165
|
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly)
|
rs8062558
|
0.00128
|
NM_032520.5(GNPTG):c.161A>T (p.Asp54Val)
|
rs368478807
|
0.00079
|
NM_032520.5(GNPTG):c.233+18_233+29dup
|
rs748272191
|
0.00067
|
NM_032520.5(GNPTG):c.183C>T (p.Pro61=)
|
rs140264422
|
0.00061
|
NM_032520.5(GNPTG):c.684C>G (p.Thr228=)
|
rs150965148
|
0.00060
|
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=)
|
rs201168011
|
0.00050
|
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)
|
rs532275192
|
0.00044
|
NM_032520.5(GNPTG):c.525A>C (p.Leu175=)
|
rs144136497
|
0.00043
|
NM_032520.5(GNPTG):c.741+6G>A
|
rs371060844
|
0.00043
|
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met)
|
rs193302860
|
0.00043
|
NM_032520.5(GNPTG):c.903G>A (p.Leu301=)
|
rs141807632
|
0.00043
|
NM_032520.5(GNPTG):c.412-13G>A
|
rs368718738
|
0.00039
|
NM_032520.5(GNPTG):c.603C>T (p.Thr201=)
|
rs146171435
|
0.00038
|
NM_032520.5(GNPTG):c.472G>A (p.Val158Ile)
|
rs138018487
|
0.00036
|
NM_032520.5(GNPTG):c.264C>T (p.Asn88=)
|
rs145313679
|
0.00034
|
NM_032520.5(GNPTG):c.*27C>T
|
rs189677035
|
0.00029
|
NM_032520.5(GNPTG):c.527-8G>A
|
rs374454359
|
0.00028
|
NM_032520.5(GNPTG):c.234-16C>T
|
rs375115440
|
0.00019
|
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)
|
rs190614894
|
0.00014
|
NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln)
|
rs773290124
|
0.00014
|
NM_032520.5(GNPTG):c.852C>T (p.His284=)
|
rs374511482
|
0.00014
|
NM_032520.5(GNPTG):c.327C>T (p.His109=)
|
rs141533972
|
0.00013
|
NM_032520.5(GNPTG):c.837G>A (p.Leu279=)
|
rs61739427
|
0.00013
|
NM_032520.5(GNPTG):c.317+12C>T
|
rs374558065
|
0.00011
|
NM_032520.5(GNPTG):c.510C>T (p.His170=)
|
rs202240106
|
0.00011
|
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val)
|
rs374470431
|
0.00010
|
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln)
|
rs139997459
|
0.00010
|
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)
|
rs561640998
|
0.00010
|
NM_032520.5(GNPTG):c.113T>C (p.Val38Ala)
|
rs372379104
|
0.00009
|
NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp)
|
rs143383133
|
0.00009
|
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)
|
rs202080062
|
0.00009
|
NM_032520.5(GNPTG):c.130C>G (p.Pro44Ala)
|
rs771564346
|
0.00008
|
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del)
|
rs773452586
|
0.00008
|
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)
|
rs370857842
|
0.00008
|
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter)
|
rs761299690
|
0.00008
|
NM_032520.5(GNPTG):c.234-17G>A
|
rs759479821
|
0.00007
|
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp)
|
rs200741370
|
0.00007
|
NM_032520.5(GNPTG):c.233+19C>T
|
rs373810840
|
0.00006
|
NM_032520.5(GNPTG):c.411+15G>A
|
rs375386449
|
0.00006
|
NM_032520.5(GNPTG):c.462G>A (p.Pro154=)
|
rs780619430
|
0.00006
|
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val)
|
rs759248626
|
0.00006
|
NM_032520.5(GNPTG):c.609+11G>A
|
rs372353423
|
0.00006
|
NM_032520.5(GNPTG):c.799G>A (p.Gly267Ser)
|
rs370064320
|
0.00006
|
NM_032520.5(GNPTG):c.858G>A (p.Thr286=)
|
rs770600776
|
0.00006
|
NM_032520.5(GNPTG):c.112G>A (p.Val38Met)
|
rs935869758
|
0.00005
|
NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys)
|
rs753385216
|
0.00005
|
NM_032520.5(GNPTG):c.302A>G (p.Tyr101Cys)
|
rs139385234
|
0.00005
|
NM_032520.5(GNPTG):c.588C>T (p.Ala196=)
|
rs541942383
|
0.00005
|
NM_032520.5(GNPTG):c.609+14C>T
|
rs117489832
|
0.00005
|
NM_032520.5(GNPTG):c.755T>C (p.Leu252Pro)
|
rs376896298
|
0.00005
|
NM_032520.5(GNPTG):c.147C>G (p.Leu49=)
|
rs552514133
|
0.00004
|
NM_032520.5(GNPTG):c.233+11G>C
|
rs199782632
|
0.00004
|
NM_032520.5(GNPTG):c.234-6C>T
|
rs200003910
|
0.00004
|
NM_032520.5(GNPTG):c.254C>T (p.Pro85Leu)
|
rs747362604
|
0.00004
|
NM_032520.5(GNPTG):c.372G>A (p.Arg124=)
|
rs781036850
|
0.00004
|
NM_032520.5(GNPTG):c.412-14C>T
|
rs528538033
|
0.00004
|
NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp)
|
rs775985395
|
0.00004
|
NM_032520.5(GNPTG):c.456C>T (p.Ser152=)
|
rs760954235
|
0.00004
|
NM_032520.5(GNPTG):c.480G>A (p.Ala160=)
|
rs149516834
|
0.00004
|
NM_032520.5(GNPTG):c.516C>T (p.His172=)
|
rs377440797
|
0.00004
|
NM_032520.5(GNPTG):c.526+11G>A
|
rs764162165
|
0.00004
|
NM_032520.5(GNPTG):c.610-2A>G
|
rs193302855
|
0.00004
|
NM_032520.5(GNPTG):c.642G>A (p.Glu214=)
|
rs774108877
|
0.00004
|
NM_032520.5(GNPTG):c.665C>G (p.Pro222Arg)
|
rs142548931
|
0.00004
|
NM_032520.5(GNPTG):c.696A>G (p.Gly232=)
|
rs746160240
|
0.00004
|
NM_032520.5(GNPTG):c.111-10C>T
|
rs749067743
|
0.00003
|
NM_032520.5(GNPTG):c.166T>A (p.Ser56Thr)
|
rs889922749
|
0.00003
|
NM_032520.5(GNPTG):c.234-8G>T
|
rs369333639
|
0.00003
|
NM_032520.5(GNPTG):c.317+7G>T
|
rs926216364
|
0.00003
|
NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys)
|
rs757394606
|
0.00003
|
NM_032520.5(GNPTG):c.423G>A (p.Ala141=)
|
rs530486639
|
0.00003
|
NM_032520.5(GNPTG):c.486G>A (p.Thr162=)
|
rs377651982
|
0.00003
|
NM_032520.5(GNPTG):c.532C>T (p.Pro178Ser)
|
rs553046300
|
0.00003
|
NM_032520.5(GNPTG):c.589G>A (p.Asp197Asn)
|
rs367672512
|
0.00003
|
NM_032520.5(GNPTG):c.609+10C>T
|
rs544780390
|
0.00003
|
NM_032520.5(GNPTG):c.610-20C>G
|
rs376709253
|
0.00003
|
NM_032520.5(GNPTG):c.631A>T (p.Thr211Ser)
|
rs112925416
|
0.00003
|
NM_032520.5(GNPTG):c.660G>A (p.Lys220=)
|
rs764405882
|
0.00003
|
NM_032520.5(GNPTG):c.742-1G>T
|
rs373976323
|
0.00003
|
NM_032520.5(GNPTG):c.742-3T>C
|
rs199724765
|
0.00003
|
NM_032520.5(GNPTG):c.765G>A (p.Glu255=)
|
rs762958864
|
0.00003
|
NM_032520.5(GNPTG):c.823+14G>T
|
rs373394818
|
0.00003
|
NM_032520.5(GNPTG):c.110+13G>A
|
rs768574619
|
0.00002
|
NM_032520.5(GNPTG):c.144C>T (p.Arg48=)
|
rs1011071248
|
0.00002
|
NM_032520.5(GNPTG):c.204G>A (p.Ser68=)
|
rs777517766
|
0.00002
|
NM_032520.5(GNPTG):c.233C>T (p.Thr78Met)
|
rs200507633
|
0.00002
|
NM_032520.5(GNPTG):c.263A>G (p.Asn88Ser)
|
rs775604993
|
0.00002
|
NM_032520.5(GNPTG):c.285C>T (p.Thr95=)
|
rs765847099
|
0.00002
|
NM_032520.5(GNPTG):c.381C>T (p.Asp127=)
|
rs748782055
|
0.00002
|
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys)
|
rs761584357
|
0.00002
|
NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln)
|
rs374890181
|
0.00002
|
NM_032520.5(GNPTG):c.501C>T (p.Leu167=)
|
rs756686252
|
0.00002
|
NM_032520.5(GNPTG):c.526+15C>T
|
rs751590086
|
0.00002
|
NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu)
|
rs927888758
|
0.00002
|
NM_032520.5(GNPTG):c.627G>A (p.Leu209=)
|
rs780930809
|
0.00002
|
NM_032520.5(GNPTG):c.641A>G (p.Glu214Gly)
|
rs768377103
|
0.00002
|
NM_032520.5(GNPTG):c.757T>C (p.Ser253Pro)
|
rs759356138
|
0.00002
|
NM_032520.5(GNPTG):c.805C>T (p.Pro269Ser)
|
rs1567185562
|
0.00002
|
NM_032520.5(GNPTG):c.823+5G>C
|
rs370849658
|
0.00002
|
NM_032520.5(GNPTG):c.*34G>A
|
rs775046997
|
0.00001
|
NM_032520.5(GNPTG):c.*62G>A
|
rs2034969990
|
0.00001
|
NM_032520.5(GNPTG):c.110+18C>T
|
rs201064884
|
0.00001
|
NM_032520.5(GNPTG):c.110+9C>T
|
rs1268624313
|
0.00001
|
NM_032520.5(GNPTG):c.114G>A (p.Val38=)
|
rs774278289
|
0.00001
|
NM_032520.5(GNPTG):c.117C>T (p.Asn39=)
|
rs1039291038
|
0.00001
|
NM_032520.5(GNPTG):c.145C>T (p.Leu49Phe)
|
rs1343539436
|
0.00001
|
NM_032520.5(GNPTG):c.153C>T (p.Ala51=)
|
rs1567179758
|
0.00001
|
NM_032520.5(GNPTG):c.160G>A (p.Asp54Asn)
|
rs901250980
|
0.00001
|
NM_032520.5(GNPTG):c.171C>T (p.Pro57=)
|
rs1435041756
|
0.00001
|
NM_032520.5(GNPTG):c.178+8A>C
|
rs1172788397
|
0.00001
|
NM_032520.5(GNPTG):c.179-7C>T
|
rs2034884080
|
0.00001
|
NM_032520.5(GNPTG):c.179-9C>T
|
rs1162803274
|
0.00001
|
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)
|
rs193302848
|
0.00001
|
NM_032520.5(GNPTG):c.201C>T (p.Leu67=)
|
rs1318071298
|
0.00001
|
NM_032520.5(GNPTG):c.210G>A (p.Lys70=)
|
rs372039531
|
0.00001
|
NM_032520.5(GNPTG):c.213C>T (p.Cys71=)
|
rs1567183526
|
0.00001
|
NM_032520.5(GNPTG):c.220C>T (p.Leu74=)
|
rs1335448671
|
0.00001
|
NM_032520.5(GNPTG):c.233+1G>A
|
rs376679416
|
0.00001
|
NM_032520.5(GNPTG):c.233+20G>A
|
rs752553225
|
0.00001
|
NM_032520.5(GNPTG):c.233+3G>A
|
rs201566045
|
0.00001
|
NM_032520.5(GNPTG):c.246G>C (p.Glu82Asp)
|
rs754595108
|
0.00001
|
NM_032520.5(GNPTG):c.260A>G (p.His87Arg)
|
rs769717288
|
0.00001
|
NM_032520.5(GNPTG):c.271C>T (p.Gln91Ter)
|
rs1394867404
|
0.00001
|
NM_032520.5(GNPTG):c.276C>T (p.His92=)
|
rs201992413
|
0.00001
|
NM_032520.5(GNPTG):c.279G>A (p.Glu93=)
|
rs750277954
|
0.00001
|
NM_032520.5(GNPTG):c.297C>T (p.Asn99=)
|
rs201045559
|
0.00001
|
NM_032520.5(GNPTG):c.298G>A (p.Ala100Thr)
|
rs770325965
|
0.00001
|
NM_032520.5(GNPTG):c.315C>A (p.Leu105=)
|
rs774673554
|
0.00001
|
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)
|
rs137852885
|
0.00001
|
NM_032520.5(GNPTG):c.317+9G>A
|
rs1482884669
|
0.00001
|
NM_032520.5(GNPTG):c.318-5C>T
|
rs1038742616
|
0.00001
|
NM_032520.5(GNPTG):c.356C>T (p.Thr119Met)
|
rs1471071549
|
0.00001
|
NM_032520.5(GNPTG):c.376G>A (p.Gly126Ser)
|
rs775359476
|
0.00001
|
NM_032520.5(GNPTG):c.399C>T (p.Ser133=)
|
rs1465106838
|
0.00001
|
NM_032520.5(GNPTG):c.411+4G>A
|
rs751575030
|
0.00001
|
NM_032520.5(GNPTG):c.412-18C>T
|
rs1443920292
|
0.00001
|
NM_032520.5(GNPTG):c.412-5C>G
|
rs1439408621
|
0.00001
|
NM_032520.5(GNPTG):c.412-8C>G
|
rs778657195
|
0.00001
|
NM_032520.5(GNPTG):c.461C>T (p.Pro154Leu)
|
rs754679713
|
0.00001
|
NM_032520.5(GNPTG):c.471C>T (p.Cys157=)
|
rs564859061
|
0.00001
|
NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr)
|
rs756971692
|
0.00001
|
NM_032520.5(GNPTG):c.490G>A (p.Glu164Lys)
|
rs766647003
|
0.00001
|
NM_032520.5(GNPTG):c.494C>T (p.Thr165Ile)
|
rs113167728
|
0.00001
|
NM_032520.5(GNPTG):c.495C>T (p.Thr165=)
|
rs752525561
|
0.00001
|
NM_032520.5(GNPTG):c.513C>T (p.Pro171=)
|
rs779213852
|
0.00001
|
NM_032520.5(GNPTG):c.526+10C>T
|
rs762776148
|
0.00001
|
NM_032520.5(GNPTG):c.526+7G>A
|
rs775426073
|
0.00001
|
NM_032520.5(GNPTG):c.526+8T>G
|
rs1452108519
|
0.00001
|
NM_032520.5(GNPTG):c.526+9G>A
|
rs1452379280
|
0.00001
|
NM_032520.5(GNPTG):c.527-10G>A
|
rs1336176104
|
0.00001
|
NM_032520.5(GNPTG):c.537C>A (p.Thr179=)
|
rs760497948
|
0.00001
|
NM_032520.5(GNPTG):c.538C>G (p.Leu180Val)
|
rs776105074
|
0.00001
|
NM_032520.5(GNPTG):c.609+7G>A
|
rs201419201
|
0.00001
|
NM_032520.5(GNPTG):c.623T>G (p.Leu208Trp)
|
rs757003667
|
0.00001
|
NM_032520.5(GNPTG):c.650G>A (p.Gly217Asp)
|
rs1438050231
|
0.00001
|
NM_032520.5(GNPTG):c.654C>T (p.Tyr218=)
|
rs1433167287
|
0.00001
|
NM_032520.5(GNPTG):c.663C>A (p.Thr221=)
|
rs751817263
|
0.00001
|
NM_032520.5(GNPTG):c.683C>T (p.Thr228Ile)
|
rs754489307
|
0.00001
|
NM_032520.5(GNPTG):c.690G>A (p.Leu230=)
|
rs200094858
|
0.00001
|
NM_032520.5(GNPTG):c.741+10T>C
|
rs199607037
|
0.00001
|
NM_032520.5(GNPTG):c.741+16G>A
|
rs911440995
|
0.00001
|
NM_032520.5(GNPTG):c.786G>C (p.Leu262Phe)
|
rs754237014
|
0.00001
|
NM_032520.5(GNPTG):c.787C>T (p.Leu263Phe)
|
rs1050479247
|
0.00001
|
NM_032520.5(GNPTG):c.789C>T (p.Leu263=)
|
rs755376950
|
0.00001
|
NM_032520.5(GNPTG):c.813G>A (p.Thr271=)
|
rs377647926
|
0.00001
|
NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln)
|
rs1391028440
|
0.00001
|
NM_032520.5(GNPTG):c.824-15C>T
|
rs760326711
|
0.00001
|
NM_032520.5(GNPTG):c.824-17A>C
|
rs761633928
|
0.00001
|
NM_032520.5(GNPTG):c.838G>A (p.Glu280Lys)
|
rs756430172
|
0.00001
|
NM_032520.5(GNPTG):c.843dup (p.His284fs)
|
rs2034958641
|
0.00001
|
NM_032520.5(GNPTG):c.844T>C (p.Leu282=)
|
rs780387272
|
0.00001
|
NM_032520.5(GNPTG):c.856A>G (p.Thr286Ala)
|
rs2034960102
|
0.00001
|
NM_032520.5(GNPTG):c.873T>G (p.Ser291=)
|
rs147955846
|
0.00001
|
NM_032520.5(GNPTG):c.886C>T (p.Arg296Trp)
|
rs150647450
|
0.00001
|
NM_032520.5(GNPTG):c.901C>T (p.Leu301=)
|
rs754236475
|
0.00001
|
NM_032520.5(GNPTG):c.904C>T (p.Arg302Cys)
|
rs775991626
|
0.00001
|
NM_032520.5(GNPTG):c.909G>C (p.Gly303=)
|
rs762046443
|
0.00001
|
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)
|
rs756959430
|
|
NM_032520.4(GNPTG):c.611delG
|
rs193302856
|
|
NM_032520.5(GNPTG):c.*107ACAAA[1]
|
rs886051685
|
|
NM_032520.5(GNPTG):c.109G>T (p.Gly37Trp)
|
|
|
NM_032520.5(GNPTG):c.110+10C>T
|
|
|
NM_032520.5(GNPTG):c.110+17G>A
|
|
|
NM_032520.5(GNPTG):c.110+1G>A
|
rs1555450716
|
|
NM_032520.5(GNPTG):c.110+1G>C
|
rs1555450716
|
|
NM_032520.5(GNPTG):c.110+2T>C
|
|
|
NM_032520.5(GNPTG):c.110+8del
|
|
|
NM_032520.5(GNPTG):c.111-10C>G
|
|
|
NM_032520.5(GNPTG):c.111-12C>T
|
|
|
NM_032520.5(GNPTG):c.111-16T>A
|
|
|
NM_032520.5(GNPTG):c.111-17del
|
|
|
NM_032520.5(GNPTG):c.111-1G>C
|
|
|
NM_032520.5(GNPTG):c.111-3T>C
|
|
|
NM_032520.5(GNPTG):c.111-5C>G
|
|
|
NM_032520.5(GNPTG):c.111-5C>T
|
|
|
NM_032520.5(GNPTG):c.111-7C>T
|
|
|
NM_032520.5(GNPTG):c.111-8T>G
|
rs2141633096
|
|
NM_032520.5(GNPTG):c.111-9T>C
|
|
|
NM_032520.5(GNPTG):c.114G>C (p.Val38=)
|
rs774278289
|
|
NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser)
|
rs2034698570
|
|
NM_032520.5(GNPTG):c.125_126delinsAG (p.Phe42Ter)
|
|
|
NM_032520.5(GNPTG):c.126C>T (p.Phe42=)
|
|
|
NM_032520.5(GNPTG):c.129G>A (p.Leu43=)
|
|
|
NM_032520.5(GNPTG):c.130C>A (p.Pro44Thr)
|
|
|
NM_032520.5(GNPTG):c.133C>T (p.Gln45Ter)
|
rs2141633130
|
|
NM_032520.5(GNPTG):c.138C>T (p.Ala46=)
|
rs538632263
|
|
NM_032520.5(GNPTG):c.141T>C (p.Ser47=)
|
|
|
NM_032520.5(GNPTG):c.154A>G (p.Lys52Glu)
|
rs2034699268
|
|
NM_032520.5(GNPTG):c.158G>A (p.Arg53Lys)
|
|
|
NM_032520.5(GNPTG):c.176C>G (p.Ser59Cys)
|
|
|
NM_032520.5(GNPTG):c.178+12G>C
|
|
|
NM_032520.5(GNPTG):c.178+13C>A
|
|
|
NM_032520.5(GNPTG):c.178+16T>C
|
|
|
NM_032520.5(GNPTG):c.178+18T>C
|
rs2034700056
|
|
NM_032520.5(GNPTG):c.178+1G>A
|
rs1596603769
|
|
NM_032520.5(GNPTG):c.178+1G>C
|
|
|
NM_032520.5(GNPTG):c.178+2T>C
|
rs1555450744
|
|
NM_032520.5(GNPTG):c.178+2T>G
|
|
|
NM_032520.5(GNPTG):c.178+9G>C
|
rs2034699941
|
|
NM_032520.5(GNPTG):c.178+9G>T
|
|
|
NM_032520.5(GNPTG):c.179-17dup
|
|
|
NM_032520.5(GNPTG):c.179-18G>A
|
|
|
NM_032520.5(GNPTG):c.179-19A>T
|
|
|
NM_032520.5(GNPTG):c.179-1G>A
|
rs988175540
|
|
NM_032520.5(GNPTG):c.179-28C>G
|
rs746507546
|
|
NM_032520.5(GNPTG):c.179-2A>G
|
|
|
NM_032520.5(GNPTG):c.179-3C>T
|
rs2034884159
|
|
NM_032520.5(GNPTG):c.179-9C>G
|
rs1162803274
|
|
NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu)
|
rs2141861695
|
|
NM_032520.5(GNPTG):c.180A>C (p.Gly60=)
|
|
|
NM_032520.5(GNPTG):c.180A>T (p.Gly60=)
|
|
|
NM_032520.5(GNPTG):c.181C>A (p.Pro61Thr)
|
rs1406080496
|
|
NM_032520.5(GNPTG):c.182C>G (p.Pro61Arg)
|
|
|
NM_032520.5(GNPTG):c.183dup (p.Val62fs)
|
rs1291377834
|
|
NM_032520.5(GNPTG):c.184G>A (p.Val62Met)
|
|
|
NM_032520.5(GNPTG):c.186G>A (p.Val62=)
|
rs766619396
|
|
NM_032520.5(GNPTG):c.186G>T (p.Val62=)
|
|
|
NM_032520.5(GNPTG):c.187dup (p.His63fs)
|
|
|
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs)
|
rs2141861740
|
|
NM_032520.5(GNPTG):c.196C>A (p.Arg66=)
|
|
|
NM_032520.5(GNPTG):c.202del (p.Ser68fs)
|
|
|
NM_032520.5(GNPTG):c.203C>A (p.Ser68Ter)
|
rs552402857
|
|
NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu)
|
rs552402857
|
|
NM_032520.5(GNPTG):c.204G>C (p.Ser68=)
|
rs777517766
|
|
NM_032520.5(GNPTG):c.204G>T (p.Ser68=)
|
rs777517766
|
|
NM_032520.5(GNPTG):c.206G>C (p.Gly69Ala)
|
|
|
NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)
|
|
|
NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn)
|
rs769323972
|
|
NM_032520.5(GNPTG):c.219C>T (p.Ser73=)
|
rs774835763
|
|
NM_032520.5(GNPTG):c.221TGG[1] (p.Val75del)
|
rs1274943476
|
|
NM_032520.5(GNPTG):c.223G>C (p.Val75Leu)
|
rs762024309
|
|
NM_032520.5(GNPTG):c.225G>A (p.Val75=)
|
|
|
NM_032520.5(GNPTG):c.231C>T (p.Ser77=)
|
|
|
NM_032520.5(GNPTG):c.233+10G>A
|
|
|
NM_032520.5(GNPTG):c.233+11G>A
|
|
|
NM_032520.5(GNPTG):c.233+12G>C
|
|
|
NM_032520.5(GNPTG):c.233+19C>A
|
|
|
NM_032520.5(GNPTG):c.233+1G>C
|
rs376679416
|
|
NM_032520.5(GNPTG):c.233+1G>T
|
rs376679416
|
|
NM_032520.5(GNPTG):c.233+2T>A
|
rs1555451608
|
|
NM_032520.5(GNPTG):c.233+2T>C
|
rs1555451608
|
|
NM_032520.5(GNPTG):c.233+2dup
|
rs2034886088
|
|
NM_032520.5(GNPTG):c.233+4_233+14del
|
rs2034885985
|
|
NM_032520.5(GNPTG):c.233+4_233+14dup
|
rs2034885985
|
|
NM_032520.5(GNPTG):c.233+5G>A
|
rs1060499691
|
|
NM_032520.5(GNPTG):c.233+5G>C
|
|
|
NM_032520.5(GNPTG):c.233+6T>G
|
rs2141861859
|
|
NM_032520.5(GNPTG):c.233+7G>A
|
|
|
NM_032520.5(GNPTG):c.233+9A>G
|
rs1596612776
|
|
NM_032520.5(GNPTG):c.233+9A>T
|
rs1596612776
|
|
NM_032520.5(GNPTG):c.233+9_233+19del
|
rs2141861855
|
|
NM_032520.5(GNPTG):c.234-10G>A
|
rs2141862003
|
|
NM_032520.5(GNPTG):c.234-12C>T
|
|
|
NM_032520.5(GNPTG):c.234-15C>T
|
|
|
NM_032520.5(GNPTG):c.234-17G>C
|
|
|
NM_032520.5(GNPTG):c.234-19A>G
|
|
|
NM_032520.5(GNPTG):c.234-19A>T
|
|
|
NM_032520.5(GNPTG):c.234-1G>A
|
rs112850896
|
|
NM_032520.5(GNPTG):c.234-1G>C
|
rs112850896
|
|
NM_032520.5(GNPTG):c.234-3C>T
|
|
|
NM_032520.5(GNPTG):c.234-4C>G
|
|
|
NM_032520.5(GNPTG):c.234-4C>T
|
rs751393135
|
|
NM_032520.5(GNPTG):c.234-5C>G
|
|
|
NM_032520.5(GNPTG):c.234-5C>T
|
|
|
NM_032520.5(GNPTG):c.234-8G>A
|
rs369333639
|
|
NM_032520.5(GNPTG):c.234G>A (p.Thr78=)
|
rs1201989695
|
|
NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)
|
|
|
NM_032520.5(GNPTG):c.237C>T (p.Tyr79=)
|
|
|
NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)
|
|
|
NM_032520.5(GNPTG):c.242A>C (p.Tyr81Ser)
|
|
|
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer)
|
rs1555451643
|
|
NM_032520.5(GNPTG):c.246G>A (p.Glu82=)
|
rs754595108
|
|
NM_032520.5(GNPTG):c.249C>T (p.Phe83=)
|
|
|
NM_032520.5(GNPTG):c.252C>T (p.Cys84=)
|
|
|
NM_032520.5(GNPTG):c.258C>T (p.Phe86=)
|
rs1596613100
|
|
NM_032520.5(GNPTG):c.262_264del (p.Asn88del)
|
|
|
NM_032520.5(GNPTG):c.264C>A (p.Asn88Lys)
|
rs145313679
|
|
NM_032520.5(GNPTG):c.265G>A (p.Val89Met)
|
|
|
NM_032520.5(GNPTG):c.267G>A (p.Val89=)
|
rs1382348960
|
|
NM_032520.5(GNPTG):c.269C>T (p.Thr90Ile)
|
rs149197775
|
|
NM_032520.5(GNPTG):c.276C>G (p.His92Gln)
|
rs201992413
|
|
NM_032520.5(GNPTG):c.277G>A (p.Glu93Lys)
|
|
|
NM_032520.5(GNPTG):c.286T>C (p.Phe96Leu)
|
rs1293958669
|
|
NM_032520.5(GNPTG):c.290G>A (p.Arg97His)
|
|
|
NM_032520.5(GNPTG):c.290G>C (p.Arg97Pro)
|
|
|
NM_032520.5(GNPTG):c.291C>G (p.Arg97=)
|
|
|
NM_032520.5(GNPTG):c.291C>T (p.Arg97=)
|
|
|
NM_032520.5(GNPTG):c.293G>A (p.Trp98Ter)
|
rs1555451684
|
|
NM_032520.5(GNPTG):c.294G>A (p.Trp98Ter)
|
rs757581909
|
|
NM_032520.5(GNPTG):c.300del (p.Tyr101fs)
|
|
|
NM_032520.5(GNPTG):c.303C>T (p.Tyr101=)
|
|
|
NM_032520.5(GNPTG):c.310A>G (p.Ile104Val)
|
|
|
NM_032520.5(GNPTG):c.310A>T (p.Ile104Phe)
|
rs2034892317
|
|
NM_032520.5(GNPTG):c.312C>A (p.Ile104=)
|
|
|
NM_032520.5(GNPTG):c.315C>G (p.Leu105=)
|
|
|
NM_032520.5(GNPTG):c.315C>T (p.Leu105=)
|
rs774673554
|
|
NM_032520.5(GNPTG):c.317+11C>T
|
|
|
NM_032520.5(GNPTG):c.317+12_317+17del
|
|
|
NM_032520.5(GNPTG):c.317+13G>A
|
|
|
NM_032520.5(GNPTG):c.317+13G>T
|
|
|
NM_032520.5(GNPTG):c.317+14G>C
|
|
|
NM_032520.5(GNPTG):c.317+16G>A
|
|
|
NM_032520.5(GNPTG):c.317+16G>C
|
|
|
NM_032520.5(GNPTG):c.317+16G>T
|
|
|
NM_032520.5(GNPTG):c.317+18A>G
|
|
|
NM_032520.5(GNPTG):c.317+19G>A
|
rs2141862300
|
|
NM_032520.5(GNPTG):c.317+20G>C
|
|
|
NM_032520.5(GNPTG):c.317+2T>A
|
|
|
NM_032520.5(GNPTG):c.317+4A>T
|
|
|
NM_032520.5(GNPTG):c.317+7G>A
|
rs926216364
|
|
NM_032520.5(GNPTG):c.318-10G>A
|
rs777991598
|
|
NM_032520.5(GNPTG):c.318-10G>C
|
|
|
NM_032520.5(GNPTG):c.318-12G>A
|
rs375764145
|
|
NM_032520.5(GNPTG):c.318-12G>T
|
rs375764145
|
|
NM_032520.5(GNPTG):c.318-13C>G
|
|
|
NM_032520.5(GNPTG):c.318-13C>T
|
rs779191841
|
|
NM_032520.5(GNPTG):c.318-14C>G
|
|
|
NM_032520.5(GNPTG):c.318-15C>G
|
|
|
NM_032520.5(GNPTG):c.318-15C>T
|
|
|
NM_032520.5(GNPTG):c.318-16dup
|
rs2141862449
|
|
NM_032520.5(GNPTG):c.318-18G>T
|
|
|
NM_032520.5(GNPTG):c.318-19C>A
|
rs143316080
|
|
NM_032520.5(GNPTG):c.318-19C>T
|
|
|
NM_032520.5(GNPTG):c.318-1G>A
|
rs193302847
|
|
NM_032520.5(GNPTG):c.318-1G>C
|
rs193302847
|
|
NM_032520.5(GNPTG):c.318-20C>T
|
|
|
NM_032520.5(GNPTG):c.318-28_351del
|
rs2034895916
|
|
NM_032520.5(GNPTG):c.318-5C>A
|
rs1038742616
|
|
NM_032520.5(GNPTG):c.318-8C>T
|
|
|
NM_032520.5(GNPTG):c.318C>T (p.Gly106=)
|
rs770716391
|
|
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)
|
rs1060499690
|
|
NM_032520.5(GNPTG):c.325C>T (p.His109Tyr)
|
|
|
NM_032520.5(GNPTG):c.327C>G (p.His109Gln)
|
rs141533972
|
|
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)
|
rs763678034
|
|
NM_032520.5(GNPTG):c.330G>A (p.Glu110=)
|
|
|
NM_032520.5(GNPTG):c.331T>C (p.Trp111Arg)
|
rs774017237
|
|
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)
|
rs137852884
|
|
NM_032520.5(GNPTG):c.339C>A (p.Ile113=)
|
rs147048228
|
|
NM_032520.5(GNPTG):c.339C>T (p.Ile113=)
|
rs147048228
|
|
NM_032520.5(GNPTG):c.340G>A (p.Ala114Thr)
|
|
|
NM_032520.5(GNPTG):c.342C>T (p.Ala114=)
|
|
|
NM_032520.5(GNPTG):c.343A>C (p.Asn115His)
|
|
|
NM_032520.5(GNPTG):c.344A>C (p.Asn115Thr)
|
rs138297609
|
|
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)
|
rs193302849
|
|
NM_032520.5(GNPTG):c.347A>C (p.Asn116Thr)
|
|
|
NM_032520.5(GNPTG):c.348C>T (p.Asn116=)
|
rs2141862545
|
|
NM_032520.5(GNPTG):c.350C>T (p.Thr117Ile)
|
|
|
NM_032520.5(GNPTG):c.354C>T (p.Phe118=)
|
|
|
NM_032520.5(GNPTG):c.355_356dup (p.Gly120fs)
|
|
|
NM_032520.5(GNPTG):c.357G>A (p.Thr119=)
|
|
|
NM_032520.5(GNPTG):c.357G>C (p.Thr119=)
|
|
|
NM_032520.5(GNPTG):c.357G>T (p.Thr119=)
|
rs758452962
|
|
NM_032520.5(GNPTG):c.360C>A (p.Gly120=)
|
rs1354027160
|
|
NM_032520.5(GNPTG):c.362T>C (p.Met121Thr)
|
|
|
NM_032520.5(GNPTG):c.362T>G (p.Met121Arg)
|
|
|
NM_032520.5(GNPTG):c.363_364insA (p.Trp122fs)
|
|
|
NM_032520.5(GNPTG):c.365G>A (p.Trp122Ter)
|
rs1291093292
|
|
NM_032520.5(GNPTG):c.366G>A (p.Trp122Ter)
|
rs757394606
|
|
NM_032520.5(GNPTG):c.371G>C (p.Arg124Thr)
|
|
|
NM_032520.5(GNPTG):c.371G>T (p.Arg124Met)
|
rs1455293503
|
|
NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr)
|
rs1281782195
|
|
NM_032520.5(GNPTG):c.375C>A (p.Asp125Glu)
|
|
|
NM_032520.5(GNPTG):c.375C>T (p.Asp125=)
|
rs141870165
|
|
NM_032520.5(GNPTG):c.376G>C (p.Gly126Arg)
|
rs775359476
|
|
NM_032520.5(GNPTG):c.379_391del (p.Asp127fs)
|
rs193302850
|
|
NM_032520.5(GNPTG):c.382G>A (p.Ala128Thr)
|
|
|
NM_032520.5(GNPTG):c.384_385dup (p.Cys129fs)
|
|
|
NM_032520.5(GNPTG):c.385_400del (p.Cys129fs)
|
rs2141862610
|
|
NM_032520.5(GNPTG):c.389G>A (p.Arg130His)
|
|
|
NM_032520.5(GNPTG):c.393C>T (p.Ser131=)
|
rs1189462726
|
|
NM_032520.5(GNPTG):c.396G>T (p.Arg132=)
|
rs1177391629
|
|
NM_032520.5(GNPTG):c.400C>T (p.Arg134Trp)
|
|
|
NM_032520.5(GNPTG):c.401G>A (p.Arg134Gln)
|
|
|
NM_032520.5(GNPTG):c.401G>T (p.Arg134Leu)
|
|
|
NM_032520.5(GNPTG):c.405G>A (p.Gln135=)
|
rs763335225
|
|
NM_032520.5(GNPTG):c.411+11dup
|
|
|
NM_032520.5(GNPTG):c.411+12_411+19del
|
|
|
NM_032520.5(GNPTG):c.411+14C>T
|
|
|
NM_032520.5(GNPTG):c.411+15G>T
|
|
|
NM_032520.5(GNPTG):c.411+18A>G
|
|
|
NM_032520.5(GNPTG):c.411+19G>A
|
|
|
NM_032520.5(GNPTG):c.411+19dup
|
|
|
NM_032520.5(GNPTG):c.411+20C>G
|
|
|
NM_032520.5(GNPTG):c.411+20C>T
|
|
|
NM_032520.5(GNPTG):c.411+6dup
|
rs2141862668
|
|
NM_032520.5(GNPTG):c.411+9_411+35del
|
|
|
NM_032520.5(GNPTG):c.411+9_411+35dup
|
rs768086598
|
|
NM_032520.5(GNPTG):c.412-10C>G
|
|
|
NM_032520.5(GNPTG):c.412-10C>T
|
rs1596614122
|
|
NM_032520.5(GNPTG):c.412-13G>C
|
|
|
NM_032520.5(GNPTG):c.412-14C>A
|
|
|
NM_032520.5(GNPTG):c.412-16C>A
|
|
|
NM_032520.5(GNPTG):c.412-1G>C
|
rs1555451866
|
|
NM_032520.5(GNPTG):c.412-20T>C
|
|
|
NM_032520.5(GNPTG):c.412-3del
|
rs1204106540
|
|
NM_032520.5(GNPTG):c.412-3dup
|
rs1204106540
|
|
NM_032520.5(GNPTG):c.412-4C>G
|
rs2141862890
|
|
NM_032520.5(GNPTG):c.412-5C>T
|
|
|
NM_032520.5(GNPTG):c.412-6C>A
|
|
|
NM_032520.5(GNPTG):c.412-6C>T
|
|
|
NM_032520.5(GNPTG):c.412G>C (p.Val138Leu)
|
|
|
NM_032520.5(GNPTG):c.417_429del (p.Leu140fs)
|
rs2141862900
|
|
NM_032520.5(GNPTG):c.418C>T (p.Leu140=)
|
|
|
NM_032520.5(GNPTG):c.420G>A (p.Leu140=)
|
|
|
NM_032520.5(GNPTG):c.421G>A (p.Ala141Thr)
|
rs2034904624
|
|
NM_032520.5(GNPTG):c.422C>T (p.Ala141Val)
|
|
|
NM_032520.5(GNPTG):c.423G>C (p.Ala141=)
|
|
|
NM_032520.5(GNPTG):c.423G>T (p.Ala141=)
|
|
|
NM_032520.5(GNPTG):c.436_446del (p.Asn146fs)
|
rs1555451874
|
|
NM_032520.5(GNPTG):c.439C>A (p.Arg147=)
|
rs775985395
|
|
NM_032520.5(GNPTG):c.442C>T (p.Leu148=)
|
|
|
NM_032520.5(GNPTG):c.445del (p.Ala149fs)
|
rs281864956
|
|
NM_032520.5(GNPTG):c.450T>C (p.His150=)
|
rs147109185
|
|
NM_032520.5(GNPTG):c.453G>A (p.Val151=)
|
|
|
NM_032520.5(GNPTG):c.456C>A (p.Ser152=)
|
|
|
NM_032520.5(GNPTG):c.456C>G (p.Ser152=)
|
rs760954235
|
|
NM_032520.5(GNPTG):c.457G>A (p.Glu153Lys)
|
|
|
NM_032520.5(GNPTG):c.459G>A (p.Glu153=)
|
|
|
NM_032520.5(GNPTG):c.461_465del (p.Pro154fs)
|
|
|
NM_032520.5(GNPTG):c.464G>A (p.Ser155Asn)
|
rs113388753
|
|
NM_032520.5(GNPTG):c.465C>T (p.Ser155=)
|
|
|
NM_032520.5(GNPTG):c.468C>T (p.Thr156=)
|
rs1000273462
|
|
NM_032520.5(GNPTG):c.474C>T (p.Val158=)
|
|
|
NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter)
|
|
|
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs)
|
rs753596034
|
|
NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu)
|
rs374470431
|
|
NM_032520.5(GNPTG):c.485C>T (p.Thr162Met)
|
|
|
NM_032520.5(GNPTG):c.492G>A (p.Glu164=)
|
|
|
NM_032520.5(GNPTG):c.494C>G (p.Thr165Ser)
|
rs113167728
|
|
NM_032520.5(GNPTG):c.495C>G (p.Thr165=)
|
rs752525561
|
|
NM_032520.5(GNPTG):c.504C>G (p.Val168=)
|
rs1727079911
|
|
NM_032520.5(GNPTG):c.504C>T (p.Val168=)
|
rs1727079911
|
|
NM_032520.5(GNPTG):c.507C>T (p.Cys169=)
|
|
|
NM_032520.5(GNPTG):c.511C>T (p.Pro171Ser)
|
|
|
NM_032520.5(GNPTG):c.513C>G (p.Pro171=)
|
|
|
NM_032520.5(GNPTG):c.514C>T (p.His172Tyr)
|
|
|
NM_032520.5(GNPTG):c.514del (p.His172fs)
|
rs1321245057
|
|
NM_032520.5(GNPTG):c.517G>A (p.Ala173Thr)
|
|
|
NM_032520.5(GNPTG):c.523C>T (p.Leu175=)
|
|
|
NM_032520.5(GNPTG):c.523dup (p.Leu175fs)
|
rs193302851
|
|
NM_032520.5(GNPTG):c.526+13G>A
|
|
|
NM_032520.5(GNPTG):c.526+16G>A
|
rs761790744
|
|
NM_032520.5(GNPTG):c.526+16G>T
|
|
|
NM_032520.5(GNPTG):c.526+17C>G
|
|
|
NM_032520.5(GNPTG):c.526+18A>G
|
|
|
NM_032520.5(GNPTG):c.526+19G>T
|
|
|
NM_032520.5(GNPTG):c.526+1G>C
|
|
|
NM_032520.5(GNPTG):c.526+41G>A
|
|
|
NM_032520.5(GNPTG):c.526+5_526+9dup
|
|
|
NM_032520.5(GNPTG):c.526+7G>T
|
|
|
NM_032520.5(GNPTG):c.526+8T>C
|
rs1452108519
|
|
NM_032520.5(GNPTG):c.527-10G>C
|
rs1336176104
|
|
NM_032520.5(GNPTG):c.527-13C>T
|
|
|
NM_032520.5(GNPTG):c.527-15C>T
|
|
|
NM_032520.5(GNPTG):c.527-16T>C
|
|
|
NM_032520.5(GNPTG):c.527-4_532del
|
rs2034916882
|
|
NM_032520.5(GNPTG):c.527-5C>G
|
|
|
NM_032520.5(GNPTG):c.527-5C>T
|
|
|
NM_032520.5(GNPTG):c.527-7T>G
|
|
|
NM_032520.5(GNPTG):c.527-8G>C
|
rs374454359
|
|
NM_032520.5(GNPTG):c.531C>T (p.Tyr177=)
|
rs747918283
|
|
NM_032520.5(GNPTG):c.537C>G (p.Thr179=)
|
|
|
NM_032520.5(GNPTG):c.540G>A (p.Leu180=)
|
rs1260979958
|
|
NM_032520.5(GNPTG):c.549C>T (p.Ala183=)
|
|
|
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del)
|
rs1555451962
|
|
NM_032520.5(GNPTG):c.556C>A (p.Arg186=)
|
rs751880564
|
|
NM_032520.5(GNPTG):c.556C>T (p.Arg186Trp)
|
rs751880564
|
|
NM_032520.5(GNPTG):c.562T>C (p.Trp188Arg)
|
rs1596615005
|
|
NM_032520.5(GNPTG):c.564G>A (p.Trp188Ter)
|
|
|
NM_032520.5(GNPTG):c.567C>T (p.Asp189=)
|
|
|
NM_032520.5(GNPTG):c.568C>A (p.Gln190Lys)
|
|
|
NM_032520.5(GNPTG):c.568C>T (p.Gln190Ter)
|
|
|
NM_032520.5(GNPTG):c.570G>A (p.Gln190=)
|
rs780352492
|
|
NM_032520.5(GNPTG):c.571del (p.Gln190_Val191insTer)
|
rs2141863595
|
|
NM_032520.5(GNPTG):c.572T>G (p.Val191Gly)
|
rs1596615031
|
|
NM_032520.5(GNPTG):c.574G>A (p.Glu192Lys)
|
|
|
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln)
|
rs749314645
|
|
NM_032520.5(GNPTG):c.576G>A (p.Glu192=)
|
rs2141863604
|
|
NM_032520.5(GNPTG):c.582C>T (p.Asp194=)
|
|
|
NM_032520.5(GNPTG):c.583C>T (p.Leu195=)
|
rs143490078
|
|
NM_032520.5(GNPTG):c.583del (p.Leu195fs)
|
|
|
NM_032520.5(GNPTG):c.585G>A (p.Leu195=)
|
|
|
NM_032520.5(GNPTG):c.585G>C (p.Leu195=)
|
rs779149342
|
|
NM_032520.5(GNPTG):c.591T>A (p.Asp197Glu)
|
|
|
NM_032520.5(GNPTG):c.592G>T (p.Glu198Ter)
|
|
|
NM_032520.5(GNPTG):c.597G>A (p.Leu199=)
|
rs112266724
|
|
NM_032520.5(GNPTG):c.597G>C (p.Leu199=)
|
rs112266724
|
|
NM_032520.5(GNPTG):c.597G>T (p.Leu199=)
|
rs112266724
|
|
NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)
|
|
|
NM_032520.5(GNPTG):c.600C>T (p.Ile200=)
|
rs2034919775
|
|
NM_032520.5(GNPTG):c.601_602dup (p.Gln203fs)
|
rs2141863669
|
|
NM_032520.5(GNPTG):c.605C>T (p.Pro202Leu)
|
rs750752675
|
|
NM_032520.5(GNPTG):c.606C>G (p.Pro202=)
|
|
|
NM_032520.5(GNPTG):c.607C>T (p.Gln203Ter)
|
rs2141863683
|
|
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)
|
rs756225251
|
|
NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs)
|
rs1555451988
|
|
NM_032520.5(GNPTG):c.608dup (p.His205fs)
|
|
|
NM_032520.5(GNPTG):c.609+11G>T
|
|
|
NM_032520.5(GNPTG):c.609+15G>A
|
|
|
NM_032520.5(GNPTG):c.609+16G>A
|
|
|
NM_032520.5(GNPTG):c.609+19T>G
|
rs2141863759
|
|
NM_032520.5(GNPTG):c.609+1G>A
|
|
|
NM_032520.5(GNPTG):c.609+1G>C
|
rs1260510628
|
|
NM_032520.5(GNPTG):c.609+1G>T
|
rs1260510628
|
|
NM_032520.5(GNPTG):c.609+1del
|
|
|
NM_032520.5(GNPTG):c.609+28_610-16del
|
rs193302853
|
|
NM_032520.5(GNPTG):c.609+2T>G
|
|
|
NM_032520.5(GNPTG):c.609+6C>T
|
|
|
NM_032520.5(GNPTG):c.609+7G>C
|
|
|
NM_032520.5(GNPTG):c.609+7G>T
|
|
|
NM_032520.5(GNPTG):c.609+9G>A
|
|
|
NM_032520.5(GNPTG):c.609G>A (p.Gln203=)
|
|
|
NM_032520.5(GNPTG):c.610-11T>C
|
|
|
NM_032520.5(GNPTG):c.610-11_628dup
|
|
|
NM_032520.5(GNPTG):c.610-12C>G
|
rs1488438937
|
|
NM_032520.5(GNPTG):c.610-12_610-6dup
|
rs774367224
|
|
NM_032520.5(GNPTG):c.610-12del
|
|
|
NM_032520.5(GNPTG):c.610-13C>A
|
|
|
NM_032520.5(GNPTG):c.610-17G>A
|
rs1212293219
|
|
NM_032520.5(GNPTG):c.610-1G>A
|
|
|
NM_032520.5(GNPTG):c.610-1G>T
|
rs193302854
|
|
NM_032520.5(GNPTG):c.610-20C>T
|
rs376709253
|
|
NM_032520.5(GNPTG):c.610-3_626dup
|
|
|
NM_032520.5(GNPTG):c.610-5_610-1del
|
rs2141863931
|
|
NM_032520.5(GNPTG):c.610-6C>G
|
|
|
NM_032520.5(GNPTG):c.610-6C>T
|
rs752714382
|
|
NM_032520.5(GNPTG):c.610-7C>A
|
|
|
NM_032520.5(GNPTG):c.610-7C>T
|
rs1358662810
|
|
NM_032520.5(GNPTG):c.610-9C>T
|
rs2141863918
|
|
NM_032520.5(GNPTG):c.613C>T (p.His205Tyr)
|
|
|
NM_032520.5(GNPTG):c.614A>G (p.His205Arg)
|
rs1847388677
|
|
NM_032520.5(GNPTG):c.615T>A (p.His205Gln)
|
rs2034924651
|
|
NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs)
|
rs193302857
|
|
NM_032520.5(GNPTG):c.621G>A (p.Lys207=)
|
rs2141863968
|
|
NM_032520.5(GNPTG):c.622T>C (p.Leu208=)
|
|
|
NM_032520.5(GNPTG):c.632_639dup (p.Glu214fs)
|
|
|
NM_032520.5(GNPTG):c.633A>G (p.Thr211=)
|
rs2141864002
|
|
NM_032520.5(GNPTG):c.636T>G (p.Leu212=)
|
rs1761988431
|
|
NM_032520.5(GNPTG):c.636_648del (p.Phe213fs)
|
|
|
NM_032520.5(GNPTG):c.637T>C (p.Phe213Leu)
|
|
|
NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer)
|
rs193302858
|
|
NM_032520.5(GNPTG):c.639del (p.Phe213fs)
|
rs193302858
|
|
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs)
|
rs193302859
|
|
NM_032520.5(GNPTG):c.647C>T (p.Ala216Val)
|
|
|
NM_032520.5(GNPTG):c.651C>G (p.Gly217=)
|
|
|
NM_032520.5(GNPTG):c.651C>T (p.Gly217=)
|
rs201844106
|
|
NM_032520.5(GNPTG):c.654_657del (p.Gly217_Tyr218insTer)
|
|
|
NM_032520.5(GNPTG):c.657A>G (p.Leu219=)
|
|
|
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter)
|
rs2034926616
|
|
NM_032520.5(GNPTG):c.659_664dup (p.Thr221_Pro222insGlnThr)
|
|
|
NM_032520.5(GNPTG):c.659_666dup (p.Glu223fs)
|
rs2141864076
|
|
NM_032520.5(GNPTG):c.659dup (p.Thr221fs)
|
rs2141864067
|
|
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del)
|
rs1555452031
|
|
NM_032520.5(GNPTG):c.663C>G (p.Thr221=)
|
rs751817263
|
|
NM_032520.5(GNPTG):c.664C>G (p.Pro222Ala)
|
rs1182234446
|
|
NM_032520.5(GNPTG):c.665del (p.Pro222fs)
|
|
|
NM_032520.5(GNPTG):c.665dup (p.Glu223fs)
|
rs2141864091
|
|
NM_032520.5(GNPTG):c.670G>T (p.Glu224Ter)
|
|
|
NM_032520.5(GNPTG):c.675T>C (p.Asn225=)
|
|
|
NM_032520.5(GNPTG):c.681C>G (p.Pro227=)
|
rs966758681
|
|
NM_032520.5(GNPTG):c.685C>T (p.Gln229Ter)
|
rs2141864128
|
|
NM_032520.5(GNPTG):c.685del (p.Gln229fs)
|
rs772287534
|
|
NM_032520.5(GNPTG):c.688C>G (p.Leu230Val)
|
rs137853827
|
|
NM_032520.5(GNPTG):c.691G>A (p.Glu231Lys)
|
|
|
NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)
|
|
|
NM_032520.5(GNPTG):c.693G>A (p.Glu231=)
|
|
|
NM_032520.5(GNPTG):c.698G>T (p.Gly233Val)
|
rs2034928063
|
|
NM_032520.5(GNPTG):c.700C>A (p.Pro234Thr)
|
|
|
NM_032520.5(GNPTG):c.700C>T (p.Pro234Ser)
|
rs775816256
|
|
NM_032520.5(GNPTG):c.701C>G (p.Pro234Arg)
|
|
|
NM_032520.5(GNPTG):c.701del (p.Pro234fs)
|
|
|
NM_032520.5(GNPTG):c.702T>G (p.Pro234=)
|
rs532275192
|
|
NM_032520.5(GNPTG):c.707G>T (p.Ser236Ile)
|
rs1201859457
|
|
NM_032520.5(GNPTG):c.709T>C (p.Leu237=)
|
rs2141864212
|
|
NM_032520.5(GNPTG):c.711G>A (p.Leu237=)
|
rs1443489626
|
|
NM_032520.5(GNPTG):c.712G>A (p.Gly238Arg)
|
|
|
NM_032520.5(GNPTG):c.712G>T (p.Gly238Trp)
|
|
|
NM_032520.5(GNPTG):c.714G>A (p.Gly238=)
|
|
|
NM_032520.5(GNPTG):c.714G>T (p.Gly238=)
|
rs766167977
|
|
NM_032520.5(GNPTG):c.714del (p.Phe239fs)
|
rs776107971
|
|
NM_032520.5(GNPTG):c.715T>C (p.Phe239Leu)
|
rs2141864288
|
|
NM_032520.5(GNPTG):c.717del (p.Phe239fs)
|
rs2141864300
|
|
NM_032520.5(GNPTG):c.718G>A (p.Glu240Lys)
|
|
|
NM_032520.5(GNPTG):c.720G>A (p.Glu240=)
|
|
|
NM_032520.5(GNPTG):c.724C>T (p.Leu242=)
|
|
|
NM_032520.5(GNPTG):c.726G>A (p.Leu242=)
|
rs2034929542
|
|
NM_032520.5(GNPTG):c.730A>C (p.Asn244His)
|
|
|
NM_032520.5(GNPTG):c.732C>T (p.Asn244=)
|
|
|
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter)
|
rs2141864418
|
|
NM_032520.5(GNPTG):c.736A>C (p.Arg246=)
|
|
|
NM_032520.5(GNPTG):c.739A>T (p.Lys247Ter)
|
rs1451538466
|
|
NM_032520.5(GNPTG):c.740A>G (p.Lys247Arg)
|
rs747594923
|
|
NM_032520.5(GNPTG):c.741+11G>A
|
|
|
NM_032520.5(GNPTG):c.741+11G>T
|
|
|
NM_032520.5(GNPTG):c.741+12G>C
|
|
|
NM_032520.5(GNPTG):c.741+12G>T
|
|
|
NM_032520.5(GNPTG):c.741+13G>A
|
|
|
NM_032520.5(GNPTG):c.741+13G>C
|
|
|
NM_032520.5(GNPTG):c.741+15G>C
|
|
|
NM_032520.5(GNPTG):c.741+16G>T
|
|
|
NM_032520.5(GNPTG):c.741+8A>G
|
rs201392900
|
|
NM_032520.5(GNPTG):c.741+8A>T
|
|
|
NM_032520.5(GNPTG):c.741+9T>C
|
rs372832123
|
|
NM_032520.5(GNPTG):c.741+9T>G
|
|
|
NM_032520.5(GNPTG):c.742-11G>A
|
|
|
NM_032520.5(GNPTG):c.742-15T>A
|
rs555595061
|
|
NM_032520.5(GNPTG):c.742-15T>C
|
|
|
NM_032520.5(GNPTG):c.742-16T>A
|
rs749610702
|
|
NM_032520.5(GNPTG):c.742-17_742-16del
|
|
|
NM_032520.5(GNPTG):c.742-18T>G
|
|
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NM_032520.5(GNPTG):c.742-19C>T
|
|
|
NM_032520.5(GNPTG):c.742-1G>A
|
rs373976323
|
|
NM_032520.5(GNPTG):c.742-4G>A
|
|
|
NM_032520.5(GNPTG):c.742-4G>C
|
rs2034936618
|
|
NM_032520.5(GNPTG):c.742-5G>C
|
|
|
NM_032520.5(GNPTG):c.742-5_742-4insT
|
rs2141864990
|
|
NM_032520.5(GNPTG):c.742-6T>G
|
rs1244418158
|
|
NM_032520.5(GNPTG):c.742-8G>A
|
|
|
NM_032520.5(GNPTG):c.742G>T (p.Ala248Ser)
|
rs773331398
|
|
NM_032520.5(GNPTG):c.744T>G (p.Ala248=)
|
rs1238456144
|
|
NM_032520.5(GNPTG):c.745C>T (p.His249Tyr)
|
|
|
NM_032520.5(GNPTG):c.748_754dup (p.Leu252fs)
|
|
|
NM_032520.5(GNPTG):c.750_753del (p.Lys250fs)
|
rs766055577
|
|
NM_032520.5(GNPTG):c.750dup (p.Glu251fs)
|
rs758242017
|
|
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter)
|
rs1555452081
|
|
NM_032520.5(GNPTG):c.752_762dup (p.Glu255fs)
|
|
|
NM_032520.5(GNPTG):c.753A>G (p.Glu251=)
|
|
|
NM_032520.5(GNPTG):c.754C>T (p.Leu252Phe)
|
|
|
NM_032520.5(GNPTG):c.756C>T (p.Leu252=)
|
rs2141865168
|
|
NM_032520.5(GNPTG):c.759A>G (p.Ser253=)
|
|
|
NM_032520.5(GNPTG):c.762G>A (p.Lys254=)
|
|
|
NM_032520.5(GNPTG):c.768C>A (p.Ile256=)
|
rs763568351
|
|
NM_032520.5(GNPTG):c.768C>T (p.Ile256=)
|
rs763568351
|
|
NM_032520.5(GNPTG):c.772del (p.Arg258fs)
|
rs2034941684
|
|
NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys)
|
rs751017354
|
|
NM_032520.5(GNPTG):c.777G>C (p.Leu259=)
|
|
|
NM_032520.5(GNPTG):c.780A>G (p.Lys260=)
|
|
|
NM_032520.5(GNPTG):c.780dup (p.Gly261fs)
|
|
|
NM_032520.5(GNPTG):c.781G>A (p.Gly261Ser)
|
rs371200622
|
|
NM_032520.5(GNPTG):c.782G>C (p.Gly261Ala)
|
|
|
NM_032520.5(GNPTG):c.792C>G (p.Thr264=)
|
|
|
NM_032520.5(GNPTG):c.792_823+13dup
|
rs1567185504
|
|
NM_032520.5(GNPTG):c.795G>A (p.Gln265=)
|
rs2141865437
|
|
NM_032520.5(GNPTG):c.798C>G (p.His266Gln)
|
rs375787769
|
|
NM_032520.5(GNPTG):c.798C>T (p.His266=)
|
rs375787769
|
|
NM_032520.5(GNPTG):c.799G>T (p.Gly267Cys)
|
|
|
NM_032520.5(GNPTG):c.801C>T (p.Gly267=)
|
|
|
NM_032520.5(GNPTG):c.802A>C (p.Ile268Leu)
|
rs759796840
|
|
NM_032520.5(GNPTG):c.806C>A (p.Pro269His)
|
rs1596616485
|
|
NM_032520.5(GNPTG):c.806_821dup (p.Glu275fs)
|
rs2034945789
|
|
NM_032520.5(GNPTG):c.807dup (p.Tyr270fs)
|
|
|
NM_032520.5(GNPTG):c.812C>G (p.Thr271Arg)
|
|
|
NM_032520.5(GNPTG):c.813G>C (p.Thr271=)
|
rs377647926
|
|
NM_032520.5(GNPTG):c.814_816del (p.Arg272del)
|
rs1555452112
|
|
NM_032520.5(GNPTG):c.816G>A (p.Arg272=)
|
|
|
NM_032520.5(GNPTG):c.818C>T (p.Pro273Leu)
|
rs2065188431
|
|
NM_032520.5(GNPTG):c.820A>C (p.Thr274Pro)
|
rs2141865648
|
|
NM_032520.5(GNPTG):c.823+16G>C
|
|
|
NM_032520.5(GNPTG):c.823+17G>A
|
rs1471147216
|
|
NM_032520.5(GNPTG):c.823+17_824-36del
|
rs1704719019
|
|
NM_032520.5(GNPTG):c.823+19G>C
|
|
|
NM_032520.5(GNPTG):c.823+1G>T
|
rs1385935677
|
|
NM_032520.5(GNPTG):c.823+5_823+8dup
|
rs2141865725
|
|
NM_032520.5(GNPTG):c.823+7C>A
|
|
|
NM_032520.5(GNPTG):c.823+7C>T
|
rs2141865747
|
|
NM_032520.5(GNPTG):c.823+8A>T
|
rs761349421
|
|
NM_032520.5(GNPTG):c.823+9C>A
|
rs1012161747
|
|
NM_032520.5(GNPTG):c.823+9C>G
|
|
|
NM_032520.5(GNPTG):c.824-12G>A
|
|
|
NM_032520.5(GNPTG):c.824-12G>C
|
|
|
NM_032520.5(GNPTG):c.824-13G>C
|
|
|
NM_032520.5(GNPTG):c.824-13_824-12del
|
|
|
NM_032520.5(GNPTG):c.824-15C>G
|
rs760326711
|
|
NM_032520.5(GNPTG):c.824-16C>G
|
|
|
NM_032520.5(GNPTG):c.824-16C>T
|
rs767113342
|
|
NM_032520.5(GNPTG):c.824-17dup
|
|
|
NM_032520.5(GNPTG):c.824-18C>T
|
|
|
NM_032520.5(GNPTG):c.824-20G>C
|
|
|
NM_032520.5(GNPTG):c.824-33C>T
|
|
|
NM_032520.5(GNPTG):c.824-39_824-13del
|
rs1555452124
|
|
NM_032520.5(GNPTG):c.824-6del
|
rs779231051
|
|
NM_032520.5(GNPTG):c.827C>T (p.Thr276Ile)
|
rs540914235
|
|
NM_032520.5(GNPTG):c.828T>C (p.Thr276=)
|
rs1210698992
|
|
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup)
|
rs1555452152
|
|
NM_032520.5(GNPTG):c.834C>G (p.Asn278Lys)
|
|
|
NM_032520.5(GNPTG):c.834C>T (p.Asn278=)
|
rs559329222
|
|
NM_032520.5(GNPTG):c.835T>G (p.Leu279Val)
|
rs886051684
|
|
NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter)
|
rs1555452155
|
|
NM_032520.5(GNPTG):c.843C>T (p.His281=)
|
|
|
NM_032520.5(GNPTG):c.849C>T (p.Gly283=)
|
|
|
NM_032520.5(GNPTG):c.852C>G (p.His284Gln)
|
|
|
NM_032520.5(GNPTG):c.853G>A (p.Glu285Lys)
|
rs772723751
|
|
NM_032520.5(GNPTG):c.853G>C (p.Glu285Gln)
|
|
|
NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter)
|
rs772723751
|
|
NM_032520.5(GNPTG):c.861C>G (p.Pro287=)
|
rs1368597797
|
|
NM_032520.5(GNPTG):c.862A>C (p.Arg288=)
|
rs200471078
|
|
NM_032520.5(GNPTG):c.862_874del (p.Arg288fs)
|
rs1555452172
|
|
NM_032520.5(GNPTG):c.866C>T (p.Ala289Val)
|
|
|
NM_032520.5(GNPTG):c.867_880del (p.Lys290fs)
|
rs1555452169
|
|
NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter)
|
rs751864147
|
|
NM_032520.5(GNPTG):c.868_869del (p.Lys290fs)
|
rs1555452178
|
|
NM_032520.5(GNPTG):c.869del (p.Lys290fs)
|
rs2141866631
|
|
NM_032520.5(GNPTG):c.870G>A (p.Lys290=)
|
|
|
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro)
|
rs775705721
|
|
NM_032520.5(GNPTG):c.874C>T (p.Pro292Ser)
|
rs768090398
|
|
NM_032520.5(GNPTG):c.876A>G (p.Pro292=)
|
|
|
NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys)
|
rs2034963316
|
|
NM_032520.5(GNPTG):c.878A>C (p.Glu293Ala)
|
|
|
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter)
|
rs780260521
|
|
NM_032520.5(GNPTG):c.881A>G (p.Gln294Arg)
|
|
|
NM_032520.5(GNPTG):c.882G>C (p.Gln294His)
|
|
|
NM_032520.5(GNPTG):c.885G>A (p.Leu295=)
|
|
|
NM_032520.5(GNPTG):c.885G>C (p.Leu295=)
|
|
|
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs)
|
rs1555452195
|
|
NM_032520.5(GNPTG):c.897A>C (p.Pro299=)
|
rs2141866867
|
|
NM_032520.5(GNPTG):c.899G>A (p.Gly300Glu)
|
rs2141866899
|
|
NM_032520.5(GNPTG):c.900A>C (p.Gly300=)
|
|
|
NM_032520.5(GNPTG):c.905G>A (p.Arg302His)
|
|
|
NM_032520.5(GNPTG):c.906T>C (p.Arg302=)
|
rs774790794
|
|
NM_032520.5(GNPTG):c.909G>A (p.Gly303=)
|
|
|
NM_032520.5(GNPTG):c.912T>C (p.Ser304=)
|
|
|
NM_032520.5(GNPTG):c.913T>C (p.Leu305=)
|
|
|
NM_032520.5(GNPTG):c.915G>A (p.Leu305=)
|
rs751017692
|
|
NM_032520.5(GNPTG):c.916_*7del (p.Ter306ValextTer?)
|
rs2034966245
|
|