NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
NM_000231.3(SGCG):c.312T>G (p.Leu104=)
|
rs1800351
|
0.47318
|
NM_000231.3(SGCG):c.860= (p.Asn287=)
|
rs1800354
|
0.16253
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_000231.3(SGCG):c.703-18T>C
|
rs9580603
|
0.04002
|
NM_000231.3(SGCG):c.435C>T (p.Asn145=)
|
rs35628352
|
0.00973
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)
|
rs763248287
|
0.00058
|
NM_000231.3(SGCG):c.505+15G>A
|
rs144143366
|
0.00054
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)
|
rs138880406
|
0.00039
|
NM_000231.3(SGCG):c.716C>T (p.Ala239Val)
|
rs149086397
|
0.00036
|
NM_000231.3(SGCG):c.196-16T>C
|
rs370930080
|
0.00032
|
NM_000231.3(SGCG):c.8G>A (p.Arg3His)
|
rs35105771
|
0.00031
|
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)
|
rs148404730
|
0.00027
|
NM_000231.3(SGCG):c.196-3C>T
|
rs765273430
|
0.00016
|
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)
|
rs200191311
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000231.3(SGCG):c.438C>T (p.Asp146=)
|
rs144497243
|
0.00014
|
NM_000231.3(SGCG):c.579-17T>G
|
rs368025607
|
0.00014
|
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)
|
rs143110015
|
0.00014
|
NM_000231.3(SGCG):c.354A>G (p.Ser118=)
|
rs376184429
|
0.00012
|
NM_000231.3(SGCG):c.102C>T (p.Arg34=)
|
rs140810408
|
0.00011
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_000231.3(SGCG):c.722C>T (p.Thr241Ile)
|
rs1265119318
|
0.00011
|
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)
|
rs148041867
|
0.00009
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
NM_000231.3(SGCG):c.142G>A (p.Val48Ile)
|
rs369936288
|
0.00008
|
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)
|
rs201329880
|
0.00008
|
NM_000231.3(SGCG):c.564G>A (p.Pro188=)
|
rs367595212
|
0.00008
|
NM_000231.3(SGCG):c.792C>G (p.Ile264Met)
|
rs377620885
|
0.00007
|
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu)
|
rs886042370
|
0.00006
|
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn)
|
rs373442790
|
0.00006
|
NM_000231.3(SGCG):c.101G>A (p.Arg34His)
|
rs755404457
|
0.00005
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00005
|
NM_000231.3(SGCG):c.505+6T>C
|
rs372684728
|
0.00005
|
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe)
|
rs780747031
|
0.00005
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe)
|
rs368524463
|
0.00004
|
NM_000231.3(SGCG):c.303A>C (p.Ser101=)
|
rs144277094
|
0.00004
|
NM_000231.3(SGCG):c.371G>T (p.Gly124Val)
|
rs183204936
|
0.00004
|
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser)
|
rs374836520
|
0.00004
|
NM_000231.3(SGCG):c.642C>T (p.His214=)
|
rs528994151
|
0.00004
|
NM_000231.3(SGCG):c.670A>G (p.Met224Val)
|
rs372188878
|
0.00004
|
NM_000231.3(SGCG):c.708G>A (p.Val236=)
|
rs899136360
|
0.00004
|
NM_000231.3(SGCG):c.784T>C (p.Tyr262His)
|
rs776357413
|
0.00004
|
NM_000231.3(SGCG):c.808G>A (p.Gly270Arg)
|
rs767191084
|
0.00004
|
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu)
|
rs752603127
|
0.00003
|
NM_000231.3(SGCG):c.345G>A (p.Ala115=)
|
rs1800352
|
0.00003
|
NM_000231.3(SGCG):c.753G>A (p.Thr251=)
|
rs748332364
|
0.00003
|
NM_000231.3(SGCG):c.180G>A (p.Val60=)
|
rs919571338
|
0.00002
|
NM_000231.3(SGCG):c.324C>A (p.Thr108=)
|
rs747220624
|
0.00002
|
NM_000231.3(SGCG):c.333G>A (p.Val111=)
|
rs775265377
|
0.00002
|
NM_000231.3(SGCG):c.386-1G>A
|
rs913248720
|
0.00002
|
NM_000231.3(SGCG):c.399A>G (p.Val133=)
|
rs747909634
|
0.00002
|
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)
|
rs569816696
|
0.00002
|
NM_000231.3(SGCG):c.479T>C (p.Val160Ala)
|
rs527562042
|
0.00002
|
NM_000231.3(SGCG):c.535G>A (p.Val179Met)
|
rs139072866
|
0.00002
|
NM_000231.3(SGCG):c.558C>T (p.Ala186=)
|
rs766503990
|
0.00002
|
NM_000231.3(SGCG):c.623G>T (p.Gly208Val)
|
rs778119056
|
0.00002
|
NM_000231.3(SGCG):c.660G>A (p.Ala220=)
|
rs550268354
|
0.00002
|
NM_000231.3(SGCG):c.735C>T (p.Pro245=)
|
rs373785384
|
0.00002
|
NM_000231.3(SGCG):c.112T>C (p.Leu38=)
|
rs1800349
|
0.00001
|
NM_000231.3(SGCG):c.120T>C (p.Val40=)
|
rs1022001256
|
0.00001
|
NM_000231.3(SGCG):c.137T>G (p.Ile46Ser)
|
rs1019389043
|
0.00001
|
NM_000231.3(SGCG):c.190T>C (p.Ser64Pro)
|
rs886042587
|
0.00001
|
NM_000231.3(SGCG):c.196-10T>G
|
rs759238812
|
0.00001
|
NM_000231.3(SGCG):c.196-6T>A
|
rs1165407566
|
0.00001
|
NM_000231.3(SGCG):c.196-9T>G
|
rs1218168404
|
0.00001
|
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala)
|
rs771657671
|
0.00001
|
NM_000231.3(SGCG):c.234G>A (p.Leu78=)
|
rs1879241633
|
0.00001
|
NM_000231.3(SGCG):c.236G>A (p.Arg79His)
|
rs375766013
|
0.00001
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
NM_000231.3(SGCG):c.297+10T>C
|
rs1879245855
|
0.00001
|
NM_000231.3(SGCG):c.315A>G (p.Leu105=)
|
rs779550455
|
0.00001
|
NM_000231.3(SGCG):c.318A>G (p.Gln106=)
|
rs371622125
|
0.00001
|
NM_000231.3(SGCG):c.326A>G (p.Gln109Arg)
|
rs201514102
|
0.00001
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)
|
rs191040430
|
0.00001
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)
|
rs544414698
|
0.00001
|
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp)
|
rs767605031
|
0.00001
|
NM_000231.3(SGCG):c.477G>A (p.Val159=)
|
rs1475965743
|
0.00001
|
NM_000231.3(SGCG):c.501A>T (p.Val167=)
|
rs560640452
|
0.00001
|
NM_000231.3(SGCG):c.505+3A>G
|
rs1881219940
|
0.00001
|
NM_000231.3(SGCG):c.506-6G>A
|
rs1347438845
|
0.00001
|
NM_000231.3(SGCG):c.522T>C (p.Leu174=)
|
rs146679977
|
0.00001
|
NM_000231.3(SGCG):c.540G>A (p.Glu180=)
|
rs1384341355
|
0.00001
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
0.00001
|
NM_000231.3(SGCG):c.578+7A>G
|
rs1881872240
|
0.00001
|
NM_000231.3(SGCG):c.578+8T>C
|
rs1359141230
|
0.00001
|
NM_000231.3(SGCG):c.579-2A>G
|
rs754415994
|
0.00001
|
NM_000231.3(SGCG):c.579-6T>C
|
rs753444436
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000231.3(SGCG):c.615C>A (p.Ala205=)
|
rs142409090
|
0.00001
|
NM_000231.3(SGCG):c.625G>T (p.Val209Leu)
|
rs563129062
|
0.00001
|
NM_000231.3(SGCG):c.629A>G (p.His210Arg)
|
rs1045567625
|
0.00001
|
NM_000231.3(SGCG):c.645T>A (p.Ala215=)
|
rs763278303
|
0.00001
|
NM_000231.3(SGCG):c.66T>C (p.Tyr22=)
|
rs376410504
|
0.00001
|
NM_000231.3(SGCG):c.690T>C (p.Ser230=)
|
rs875989949
|
0.00001
|
NM_000231.3(SGCG):c.702+15A>G
|
rs1220492352
|
0.00001
|
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)
|
rs763780768
|
0.00001
|
NM_000231.3(SGCG):c.752del (p.Thr251fs)
|
rs886042749
|
0.00001
|
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr)
|
rs886043151
|
0.00001
|
NM_000231.3(SGCG):c.781C>G (p.Leu261Val)
|
rs1460327315
|
0.00001
|
NM_000231.3(SGCG):c.786C>T (p.Tyr262=)
|
rs759316719
|
0.00001
|
NM_000231.3(SGCG):c.7C>T (p.Arg3Cys)
|
rs140310896
|
0.00001
|
NM_000231.3(SGCG):c.810G>C (p.Gly270=)
|
rs1268630904
|
0.00001
|
NM_000231.3(SGCG):c.831C>T (p.Ala277=)
|
rs754112406
|
0.00001
|
NM_000231.3(SGCG):c.87T>C (p.Tyr29=)
|
rs1196026821
|
0.00001
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NC_000013.10:g.(?_23667335)_(23778038_?)dup
|
|
|
NC_000013.10:g.(?_23667335)_(23869646_?)dup
|
|
|
NC_000013.10:g.(?_23667335)_(23894909_?)dup
|
|
|
NC_000013.10:g.(?_23667335)_(23985388_?)dup
|
|
|
NC_000013.10:g.(?_23755215)_(23853627_?)del
|
|
|
NC_000013.10:g.(?_23777834)_(23985378_?)dup
|
|
|
NC_000013.10:g.(?_23808730)_(23808871_?)del
|
|
|
NC_000013.10:g.(?_23824749)_(23853637_?)del
|
|
|
NC_000013.10:g.(?_23869544)_(23869636_?)dup
|
|
|
NC_000013.10:g.(?_23894756)_(23985378_?)dup
|
|
|
NC_000013.10:g.(?_23898487)_(24463459_?)del
|
|
|
NC_000013.10:g.(?_23898497)_(23898690_?)del
|
|
|
NC_000013.11:g.(?_23093196)_(23203899_?)del
|
|
|
NC_000013.11:g.(?_23093196)_(23411249_?)del
|
|
|
NC_000013.11:g.(?_23093196)_(23411259_?)del
|
|
|
NC_000013.11:g.(?_23203675)_(23279498_?)del
|
|
|
NC_000013.11:g.(?_23203685)_(23203899_?)del
|
|
|
NC_000013.11:g.(?_23320627)_(23320770_?)del
|
|
|
NM_000231.3(SGCG):c.-1+5G>A
|
|
|
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter)
|
rs760108586
|
|
NM_000231.3(SGCG):c.111C>T (p.Tyr37=)
|
|
|
NM_000231.3(SGCG):c.117T>G (p.Phe39Leu)
|
rs1877867873
|
|
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del)
|
rs1349925286
|
|
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)
|
rs2137501447
|
|
NM_000231.3(SGCG):c.129A>G (p.Leu43=)
|
rs1555234797
|
|
NM_000231.3(SGCG):c.138C>T (p.Ile46=)
|
|
|
NM_000231.3(SGCG):c.141C>T (p.Leu47=)
|
rs1877869527
|
|
NM_000231.3(SGCG):c.142G>C (p.Val48Leu)
|
rs369936288
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.161C>A (p.Thr54Lys)
|
rs886043940
|
|
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter)
|
rs1351510337
|
|
NM_000231.3(SGCG):c.172C>A (p.Leu58Ile)
|
rs752310028
|
|
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer)
|
rs2137501542
|
|
NM_000231.3(SGCG):c.183G>A (p.Met61Ile)
|
rs1288398934
|
|
NM_000231.3(SGCG):c.195+15T>G
|
|
|
NM_000231.3(SGCG):c.195+19T>C
|
|
|
NM_000231.3(SGCG):c.195+3A>G
|
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.195+5G>A
|
|
|
NM_000231.3(SGCG):c.196-10T>C
|
rs759238812
|
|
NM_000231.3(SGCG):c.196-10_196-6del
|
|
|
NM_000231.3(SGCG):c.196-11T>C
|
rs1879238085
|
|
NM_000231.3(SGCG):c.196-18_196-15del
|
|
|
NM_000231.3(SGCG):c.196-19T>C
|
|
|
NM_000231.3(SGCG):c.196-1G>A
|
|
|
NM_000231.3(SGCG):c.196-6del
|
rs568365779
|
|
NM_000231.3(SGCG):c.196-6dup
|
rs568365779
|
|
NM_000231.3(SGCG):c.196-7_196-6del
|
rs568365779
|
|
NM_000231.3(SGCG):c.196-8_196-6del
|
|
|
NM_000231.3(SGCG):c.196-9T>C
|
|
|
NM_000231.3(SGCG):c.199G>A (p.Gly67Arg)
|
rs1879239201
|
|
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
|
|
|
NM_000231.3(SGCG):c.213G>A (p.Leu71=)
|
|
|
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
|
|
|
NM_000231.3(SGCG):c.217G>A (p.Val73Ile)
|
rs763619480
|
|
NM_000231.3(SGCG):c.223A>G (p.Lys75Glu)
|
rs2137545079
|
|
NM_000231.3(SGCG):c.237C>G (p.Arg79=)
|
|
|
NM_000231.3(SGCG):c.237C>T (p.Arg79=)
|
|
|
NM_000231.3(SGCG):c.240G>A (p.Leu80=)
|
rs1228186934
|
|
NM_000231.3(SGCG):c.241_297+1169del
|
|
|
NM_000231.3(SGCG):c.250T>A (p.Ser84Thr)
|
rs1566011041
|
|
NM_000231.3(SGCG):c.259T>C (p.Leu87=)
|
rs1174403532
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.264C>T (p.Phe88=)
|
rs2137545196
|
|
NM_000231.3(SGCG):c.268T>C (p.Leu90=)
|
|
|
NM_000231.3(SGCG):c.273T>C (p.Tyr91=)
|
|
|
NM_000231.3(SGCG):c.274G>A (p.Ala92Thr)
|
rs1566011069
|
|
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp)
|
rs886044395
|
|
NM_000231.3(SGCG):c.27C>T (p.Ala9=)
|
|
|
NM_000231.3(SGCG):c.288C>T (p.His96=)
|
rs957838468
|
|
NM_000231.3(SGCG):c.291C>T (p.Ser97=)
|
|
|
NM_000231.3(SGCG):c.297+13T>G
|
|
|
NM_000231.3(SGCG):c.297+14_297+15del
|
|
|
NM_000231.3(SGCG):c.297+16G>A
|
|
|
NM_000231.3(SGCG):c.297+17A>G
|
|
|
NM_000231.3(SGCG):c.297+18C>G
|
rs1408311582
|
|
NM_000231.3(SGCG):c.298-14A>G
|
|
|
NM_000231.3(SGCG):c.298-16A>G
|
|
|
NM_000231.3(SGCG):c.298-1G>A
|
rs79500874
|
|
NM_000231.3(SGCG):c.298-20T>G
|
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
NM_000231.3(SGCG):c.298-8C>T
|
|
|
NM_000231.3(SGCG):c.300C>T (p.Asp100=)
|
rs2137569260
|
|
NM_000231.3(SGCG):c.307C>T (p.Leu103=)
|
rs754191351
|
|
NM_000231.3(SGCG):c.310C>A (p.Leu104Ile)
|
|
|
NM_000231.3(SGCG):c.312T>C (p.Leu104=)
|
|
|
NM_000231.3(SGCG):c.317A>C (p.Gln106Pro)
|
rs2137569326
|
|
NM_000231.3(SGCG):c.321A>C (p.Ser107=)
|
rs777873668
|
|
NM_000231.3(SGCG):c.327G>A (p.Gln109=)
|
|
|
NM_000231.3(SGCG):c.336T>C (p.Thr112=)
|
|
|
NM_000231.3(SGCG):c.344C>A (p.Ala115Glu)
|
rs774245371
|
|
NM_000231.3(SGCG):c.360G>A (p.Gly120=)
|
|
|
NM_000231.3(SGCG):c.361del (p.Glu121fs)
|
rs1879928532
|
|
NM_000231.3(SGCG):c.363G>A (p.Glu121=)
|
|
|
NM_000231.3(SGCG):c.374G>A (p.Arg125Lys)
|
rs2137569487
|
|
NM_000231.3(SGCG):c.375G>A (p.Arg125=)
|
|
|
NM_000231.3(SGCG):c.379A>C (p.Lys127Gln)
|
|
|
NM_000231.3(SGCG):c.381A>G (p.Lys127=)
|
|
|
NM_000231.3(SGCG):c.385+11C>G
|
|
|
NM_000231.3(SGCG):c.385+16T>C
|
|
|
NM_000231.3(SGCG):c.385+1G>A
|
|
|
NM_000231.3(SGCG):c.385+20G>T
|
|
|
NM_000231.3(SGCG):c.385+7C>T
|
|
|
NM_000231.3(SGCG):c.386-12T>C
|
rs781429055
|
|
NM_000231.3(SGCG):c.386-15G>A
|
|
|
NM_000231.3(SGCG):c.386-15G>C
|
|
|
NM_000231.3(SGCG):c.386-18A>G
|
|
|
NM_000231.3(SGCG):c.386-2A>C
|
rs886042757
|
|
NM_000231.3(SGCG):c.386-2A>G
|
rs886042757
|
|
NM_000231.3(SGCG):c.386-8T>A
|
rs2137617464
|
|
NM_000231.3(SGCG):c.386-9A>G
|
|
|
NM_000231.3(SGCG):c.386G>T (p.Gly129Val)
|
rs866412938
|
|
NM_000231.3(SGCG):c.399A>C (p.Val133=)
|
|
|
NM_000231.3(SGCG):c.405C>T (p.Val135=)
|
rs771962643
|
|
NM_000231.3(SGCG):c.42C>T (p.Cys14=)
|
rs1877862967
|
|
NM_000231.3(SGCG):c.432C>G (p.Ser144=)
|
|
|
NM_000231.3(SGCG):c.432C>T (p.Ser144=)
|
|
|
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser)
|
rs1451332880
|
|
NM_000231.3(SGCG):c.435C>A (p.Asn145Lys)
|
|
|
NM_000231.3(SGCG):c.441C>G (p.Gly147=)
|
|
|
NM_000231.3(SGCG):c.447A>G (p.Pro149=)
|
rs2137617646
|
|
NM_000231.3(SGCG):c.447A>T (p.Pro149=)
|
|
|
NM_000231.3(SGCG):c.44T>C (p.Ile15Thr)
|
rs1877863268
|
|
NM_000231.3(SGCG):c.450A>G (p.Leu150=)
|
|
|
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)
|
rs886042540
|
|
NM_000231.3(SGCG):c.455C>A (p.Thr152Asn)
|
rs201329880
|
|
NM_000231.3(SGCG):c.456T>C (p.Thr152=)
|
|
|
NM_000231.3(SGCG):c.459A>G (p.Val153=)
|
|
|
NM_000231.3(SGCG):c.45A>G (p.Ile15Met)
|
rs2137501268
|
|
NM_000231.3(SGCG):c.46G>C (p.Glu16Gln)
|
|
|
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys)
|
rs770939408
|
|
NM_000231.3(SGCG):c.494T>C (p.Leu165Pro)
|
rs2137617769
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
NM_000231.3(SGCG):c.501A>G (p.Val167=)
|
|
|
NM_000231.3(SGCG):c.504T>C (p.Thr168=)
|
rs2137617795
|
|
NM_000231.3(SGCG):c.505+14C>G
|
|
|
NM_000231.3(SGCG):c.505+15G>T
|
rs144143366
|
|
NM_000231.3(SGCG):c.505+20A>G
|
rs2137617840
|
|
NM_000231.3(SGCG):c.505+22del
|
|
|
NM_000231.3(SGCG):c.506-10T>A
|
rs2137644577
|
|
NM_000231.3(SGCG):c.506-14dup
|
|
|
NM_000231.3(SGCG):c.506-15T>C
|
rs1364745131
|
|
NM_000231.3(SGCG):c.506-4T>C
|
|
|
NM_000231.3(SGCG):c.506-5T>C
|
|
|
NM_000231.3(SGCG):c.506-6G>T
|
rs1347438845
|
|
NM_000231.3(SGCG):c.507G>A (p.Gly169=)
|
rs199905729
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
NM_000231.3(SGCG):c.510T>C (p.Pro170=)
|
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.519T>C (p.Ala173=)
|
|
|
NM_000231.3(SGCG):c.524_527del (p.Phe175fs)
|
rs2137644682
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.528_534del (p.His177fs)
|
|
|
NM_000231.3(SGCG):c.529C>T (p.His177Tyr)
|
rs375592456
|
|
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter)
|
rs1011397929
|
|
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer)
|
rs1180551378
|
|
NM_000231.3(SGCG):c.549dup (p.Val184fs)
|
rs2137644772
|
|
NM_000231.3(SGCG):c.551T>G (p.Val184Gly)
|
rs1593095374
|
|
NM_000231.3(SGCG):c.552C>A (p.Val184=)
|
|
|
NM_000231.3(SGCG):c.555A>G (p.Arg185=)
|
|
|
NM_000231.3(SGCG):c.558C>A (p.Ala186=)
|
rs766503990
|
|
NM_000231.3(SGCG):c.559G>A (p.Asp187Asn)
|
rs886042075
|
|
NM_000231.3(SGCG):c.560A>G (p.Asp187Gly)
|
rs2137644813
|
|
NM_000231.3(SGCG):c.563C>G (p.Pro188Arg)
|
|
|
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu)
|
rs753806016
|
|
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)
|
rs1555245351
|
|
NM_000231.3(SGCG):c.578+13G>A
|
|
|
NM_000231.3(SGCG):c.578+14T>C
|
|
|
NM_000231.3(SGCG):c.578+1G>C
|
rs1555245353
|
|
NM_000231.3(SGCG):c.578+1G>T
|
|
|
NM_000231.3(SGCG):c.578+8T>G
|
rs1359141230
|
|
NM_000231.3(SGCG):c.578+9T>C
|
rs757092281
|
|
NM_000231.3(SGCG):c.578+9_578+20del
|
rs2137644904
|
|
NM_000231.3(SGCG):c.579-10C>G
|
|
|
NM_000231.3(SGCG):c.579-10C>T
|
rs1232043975
|
|
NM_000231.3(SGCG):c.579-11C>T
|
|
|
NM_000231.3(SGCG):c.579-15_579-12dup
|
|
|
NM_000231.3(SGCG):c.579-16C>A
|
|
|
NM_000231.3(SGCG):c.579-16_579-14del
|
|
|
NM_000231.3(SGCG):c.579-1G>A
|
|
|
NM_000231.3(SGCG):c.579-20G>T
|
|
|
NM_000231.3(SGCG):c.579-3C>T
|
|
|
NM_000231.3(SGCG):c.579-7A>C
|
rs371758035
|
|
NM_000231.3(SGCG):c.579-8C>T
|
|
|
NM_000231.3(SGCG):c.579-9T>C
|
rs2137528009
|
|
NM_000231.3(SGCG):c.57G>A (p.Glu19=)
|
|
|
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp)
|
rs752669226
|
|
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)
|
rs547818652
|
|
NM_000231.3(SGCG):c.594T>C (p.Thr198=)
|
|
|
NM_000231.3(SGCG):c.595C>T (p.Arg199Trp)
|
|
|
NM_000231.3(SGCG):c.599del (p.Ser200fs)
|
rs886043860
|
|
NM_000231.3(SGCG):c.5T>C (p.Val2Ala)
|
|
|
NM_000231.3(SGCG):c.605G>C (p.Ser202Thr)
|
|
|
NM_000231.3(SGCG):c.615C>T (p.Ala205=)
|
|
|
NM_000231.3(SGCG):c.618A>C (p.Pro206=)
|
|
|
NM_000231.3(SGCG):c.619A>G (p.Arg207Gly)
|
rs1883003177
|
|
NM_000231.3(SGCG):c.627G>A (p.Val209=)
|
|
|
NM_000231.3(SGCG):c.630T>C (p.His210=)
|
|
|
NM_000231.3(SGCG):c.636A>G (p.Gln212=)
|
rs794727841
|
|
NM_000231.3(SGCG):c.63G>A (p.Gln21=)
|
rs1459310219
|
|
NM_000231.3(SGCG):c.643G>T (p.Ala215Ser)
|
|
|
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs)
|
rs2137528211
|
|
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter)
|
rs1325816562
|
|
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
|
|
|
NM_000231.3(SGCG):c.662T>C (p.Leu221Pro)
|
rs1883006449
|
|
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)
|
rs376410504
|
|
NM_000231.3(SGCG):c.672G>T (p.Met224Ile)
|
rs866525494
|
|
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer)
|
rs2137528297
|
|
NM_000231.3(SGCG):c.684T>C (p.Phe228=)
|
rs1593112867
|
|
NM_000231.3(SGCG):c.687T>C (p.His229=)
|
|
|
NM_000231.3(SGCG):c.699_702del (p.Met234fs)
|
rs2137528349
|
|
NM_000231.3(SGCG):c.69C>T (p.Val23=)
|
|
|
NM_000231.3(SGCG):c.702+12C>T
|
|
|
NM_000231.3(SGCG):c.702+1G>C
|
rs1555248000
|
|
NM_000231.3(SGCG):c.702+9A>C
|
|
|
NM_000231.3(SGCG):c.703-16A>G
|
|
|
NM_000231.3(SGCG):c.703-17C>T
|
|
|
NM_000231.3(SGCG):c.703-19C>G
|
|
|
NM_000231.3(SGCG):c.703-1G>A
|
|
|
NM_000231.3(SGCG):c.703-1G>C
|
rs1883152345
|
|
NM_000231.3(SGCG):c.705_706inv (p.Val236Met)
|
|
|
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del)
|
rs1555248287
|
|
NM_000231.3(SGCG):c.723T>A (p.Thr241=)
|
|
|
NM_000231.3(SGCG):c.723T>G (p.Thr241=)
|
rs2137534041
|
|
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)
|
rs758078849
|
|
NM_000231.3(SGCG):c.729C>T (p.Cys243=)
|
|
|
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs)
|
rs1883154291
|
|
NM_000231.3(SGCG):c.735del (p.Lys246fs)
|
|
|
NM_000231.3(SGCG):c.743T>C (p.Val248Ala)
|
|
|
NM_000231.3(SGCG):c.750G>C (p.Gly250=)
|
|
|
NM_000231.3(SGCG):c.753G>C (p.Thr251=)
|
|
|
NM_000231.3(SGCG):c.757G>A (p.Gly253Ser)
|
|
|
NM_000231.3(SGCG):c.759T>A (p.Gly253=)
|
rs2137534128
|
|
NM_000231.3(SGCG):c.768C>A (p.Gly256=)
|
rs2137534138
|
|
NM_000231.3(SGCG):c.768C>G (p.Gly256=)
|
|
|
NM_000231.3(SGCG):c.768del (p.Ser257fs)
|
rs1199421806
|
|
NM_000231.3(SGCG):c.771C>T (p.Ser257=)
|
|
|
NM_000231.3(SGCG):c.775_776del (p.Gln259fs)
|
rs2137534154
|
|
NM_000231.3(SGCG):c.796G>T (p.Val266Leu)
|
rs1555248300
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000231.3(SGCG):c.800_801delinsCC (p.Cys267Ser)
|
|
|
NM_000231.3(SGCG):c.804A>G (p.Pro268=)
|
|
|
NM_000231.3(SGCG):c.815T>G (p.Leu272Arg)
|
|
|
NM_000231.3(SGCG):c.817T>A (p.Tyr273Asn)
|
rs1883158469
|
|
NM_000231.3(SGCG):c.819C>T (p.Tyr273=)
|
rs1566049887
|
|
NM_000231.3(SGCG):c.820C>T (p.Leu274=)
|
|
|
NM_000231.3(SGCG):c.824_827del (p.Ser275fs)
|
rs1361450354
|
|
NM_000231.3(SGCG):c.828G>A (p.Val276=)
|
|
|
NM_000231.3(SGCG):c.82A>C (p.Ile28Leu)
|
|
|
NM_000231.3(SGCG):c.82del (p.Ile28fs)
|
|
|
NM_000231.3(SGCG):c.837G>A (p.Val279=)
|
|
|
NM_000231.3(SGCG):c.846G>A (p.Thr282=)
|
rs778036404
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000231.3(SGCG):c.84T>C (p.Ile28=)
|
rs1031067187
|
|
NM_000231.3(SGCG):c.852G>A (p.Gln284=)
|
|
|
NM_000231.3(SGCG):c.860A>C (p.Asn287Thr)
|
|
|
NM_000231.3(SGCG):c.867C>A (p.Ile289=)
|
|
|
NM_000231.3(SGCG):c.868T>G (p.Cys290Gly)
|
|
|
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter)
|
rs1196026821
|
|
NM_000231.3(SGCG):c.89del (p.Gly30fs)
|
|
|
NM_000231.3(SGCG):c.99G>A (p.Lys33=)
|
rs778502285
|
|