NM_032520.5(GNPTG):c.233+7G>T
|
rs9926432
|
0.01285
|
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.814A>G (p.Arg272Gly)
|
rs8062558
|
0.00128
|
NM_032520.5(GNPTG):c.161A>T (p.Asp54Val)
|
rs368478807
|
0.00079
|
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.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.502G>A (p.Val168Ile)
|
rs190614894
|
0.00014
|
NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln)
|
rs773290124
|
0.00014
|
NM_032520.5(GNPTG):c.837G>A (p.Leu279=)
|
rs61739427
|
0.00013
|
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.394C>T (p.Arg132Trp)
|
rs200741370
|
0.00007
|
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val)
|
rs759248626
|
0.00006
|
NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys)
|
rs753385216
|
0.00005
|
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.412-14C>T
|
rs528538033
|
0.00004
|
NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp)
|
rs775985395
|
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.166T>A (p.Ser56Thr)
|
rs889922749
|
0.00003
|
NM_032520.5(GNPTG):c.234-8G>T
|
rs369333639
|
0.00003
|
NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys)
|
rs757394606
|
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.609+10C>T
|
rs544780390
|
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.765G>A (p.Glu255=)
|
rs762958864
|
0.00003
|
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.388C>T (p.Arg130Cys)
|
rs761584357
|
0.00002
|
NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln)
|
rs374890181
|
0.00002
|
NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu)
|
rs927888758
|
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.145C>T (p.Leu49Phe)
|
rs1343539436
|
0.00001
|
NM_032520.5(GNPTG):c.160G>A (p.Asp54Asn)
|
rs901250980
|
0.00001
|
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)
|
rs193302848
|
0.00001
|
NM_032520.5(GNPTG):c.233+1G>A
|
rs376679416
|
0.00001
|
NM_032520.5(GNPTG):c.297C>T (p.Asn99=)
|
rs201045559
|
0.00001
|
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)
|
rs137852885
|
0.00001
|
NM_032520.5(GNPTG):c.411+4G>A
|
rs751575030
|
0.00001
|
NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr)
|
rs756971692
|
0.00001
|
NM_032520.5(GNPTG):c.527-10G>A
|
rs1336176104
|
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.683C>T (p.Thr228Ile)
|
rs754489307
|
0.00001
|
NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln)
|
rs1391028440
|
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.901C>T (p.Leu301=)
|
rs754236475
|
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.110+1G>A
|
rs1555450716
|
|
NM_032520.5(GNPTG):c.110+1G>C
|
rs1555450716
|
|
NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser)
|
rs2034698570
|
|
NM_032520.5(GNPTG):c.138C>T (p.Ala46=)
|
rs538632263
|
|
NM_032520.5(GNPTG):c.178+2T>C
|
rs1555450744
|
|
NM_032520.5(GNPTG):c.178+9G>C
|
rs2034699941
|
|
NM_032520.5(GNPTG):c.179-1G>A
|
rs988175540
|
|
NM_032520.5(GNPTG):c.179-3C>T
|
rs2034884159
|
|
NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu)
|
rs2141861695
|
|
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs)
|
rs2141861740
|
|
NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu)
|
rs552402857
|
|
NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)
|
|
|
NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn)
|
rs769323972
|
|
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+5G>A
|
rs1060499691
|
|
NM_032520.5(GNPTG):c.234-1G>A
|
rs112850896
|
|
NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)
|
|
|
NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)
|
|
|
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer)
|
rs1555451643
|
|
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.318-10G>A
|
rs777991598
|
|
NM_032520.5(GNPTG):c.318-1G>A
|
rs193302847
|
|
NM_032520.5(GNPTG):c.318-1G>C
|
rs193302847
|
|
NM_032520.5(GNPTG):c.318-28_351del
|
rs2034895916
|
|
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.327C>G (p.His109Gln)
|
rs141533972
|
|
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)
|
rs763678034
|
|
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.344A>C (p.Asn115Thr)
|
rs138297609
|
|
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)
|
rs193302849
|
|
NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr)
|
rs1281782195
|
|
NM_032520.5(GNPTG):c.379_391del (p.Asp127fs)
|
rs193302850
|
|
NM_032520.5(GNPTG):c.412-1G>C
|
rs1555451866
|
|
NM_032520.5(GNPTG):c.421G>A (p.Ala141Thr)
|
rs2034904624
|
|
NM_032520.5(GNPTG):c.445del (p.Ala149fs)
|
rs281864956
|
|
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.523dup (p.Leu175fs)
|
rs193302851
|
|
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del)
|
rs1555451962
|
|
NM_032520.5(GNPTG):c.562T>C (p.Trp188Arg)
|
rs1596615005
|
|
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln)
|
rs749314645
|
|
NM_032520.5(GNPTG):c.583del (p.Leu195fs)
|
|
|
NM_032520.5(GNPTG):c.597G>C (p.Leu199=)
|
rs112266724
|
|
NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)
|
|
|
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)
|
rs756225251
|
|
NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs)
|
rs1555451988
|
|
NM_032520.5(GNPTG):c.609+1G>C
|
rs1260510628
|
|
NM_032520.5(GNPTG):c.609+28_610-16del
|
rs193302853
|
|
NM_032520.5(GNPTG):c.610-1G>A
|
|
|
NM_032520.5(GNPTG):c.610-1G>T
|
rs193302854
|
|
NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs)
|
rs193302857
|
|
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.658A>T (p.Lys220Ter)
|
rs2034926616
|
|
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del)
|
rs1555452031
|
|
NM_032520.5(GNPTG):c.685del (p.Gln229fs)
|
rs772287534
|
|
NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)
|
|
|
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter)
|
rs2141864418
|
|
NM_032520.5(GNPTG):c.740A>G (p.Lys247Arg)
|
rs747594923
|
|
NM_032520.5(GNPTG):c.742-1G>A
|
rs373976323
|
|
NM_032520.5(GNPTG):c.750dup (p.Glu251fs)
|
rs758242017
|
|
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter)
|
rs1555452081
|
|
NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys)
|
rs751017354
|
|
NM_032520.5(GNPTG):c.781G>A (p.Gly261Ser)
|
rs371200622
|
|
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.802A>C (p.Ile268Leu)
|
rs759796840
|
|
NM_032520.5(GNPTG):c.806C>A (p.Pro269His)
|
rs1596616485
|
|
NM_032520.5(GNPTG):c.814_816del (p.Arg272del)
|
rs1555452112
|
|
NM_032520.5(GNPTG):c.823+1G>T
|
rs1385935677
|
|
NM_032520.5(GNPTG):c.824-39_824-13del
|
rs1555452124
|
|
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup)
|
rs1555452152
|
|
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.853G>T (p.Glu285Ter)
|
rs772723751
|
|
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.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.873_878dup (p.Pro292_Glu293insAspPro)
|
rs775705721
|
|
NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys)
|
rs2034963316
|
|
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter)
|
rs780260521
|
|
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs)
|
rs1555452195
|
|