NM_000430.4(PAFAH1B1):c.901-346T>C
|
rs4790354
|
0.99257
|
NM_000430.4(PAFAH1B1):c.568+233C>T
|
rs3213697
|
0.89115
|
NM_000430.4(PAFAH1B1):c.568+27C>T
|
rs3213696
|
0.89105
|
NM_000430.4(PAFAH1B1):c.400-284A>G
|
rs11078302
|
0.86470
|
NM_000430.4(PAFAH1B1):c.672-263C>T
|
rs2317297
|
0.82967
|
NM_000430.4(PAFAH1B1):c.*17C>T
|
rs6628
|
0.20094
|
NM_000430.4(PAFAH1B1):c.672-177A>T
|
rs7223411
|
0.15490
|
NM_000430.4(PAFAH1B1):c.1160-77G>A
|
rs62068249
|
0.13980
|
NM_000430.4(PAFAH1B1):c.901-209T>G
|
rs138515134
|
0.03469
|
NM_000430.4(PAFAH1B1):c.569-330G>A
|
rs16952298
|
0.02854
|
NM_000430.4(PAFAH1B1):c.568+281T>G
|
rs75027556
|
0.02664
|
NM_000430.4(PAFAH1B1):c.192+43T>C
|
rs75468446
|
0.02663
|
NM_000430.4(PAFAH1B1):c.901-79C>G
|
rs115257538
|
0.02489
|
NM_000430.4(PAFAH1B1):c.-191+1560A>G
|
rs76026762
|
0.02484
|
NM_000430.4(PAFAH1B1):c.672-10A>C
|
rs77153143
|
0.01770
|
NC_000017.11:g.2593443C>T
|
rs75906129
|
0.01598
|
NM_000430.4(PAFAH1B1):c.33-181_33-180del
|
rs112251814
|
0.01572
|
NM_000430.4(PAFAH1B1):c.192+174T>C
|
rs111612096
|
0.01567
|
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=)
|
rs2228614
|
0.01444
|
NM_000430.4(PAFAH1B1):c.1003-180G>A
|
rs73304261
|
0.01065
|
NM_000430.4(PAFAH1B1):c.192+49C>T
|
rs140548168
|
0.00948
|
NM_000430.4(PAFAH1B1):c.33-74T>C
|
rs116129145
|
0.00677
|
NM_000430.4(PAFAH1B1):c.569-234G>T
|
rs77786909
|
0.00647
|
NM_000430.4(PAFAH1B1):c.901-256G>A
|
rs187519888
|
0.00645
|
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=)
|
rs116237011
|
0.00638
|
NM_000430.4(PAFAH1B1):c.1003-234T>C
|
rs76146954
|
0.00562
|
NM_000430.4(PAFAH1B1):c.-191+1593G>T
|
rs76667110
|
0.00494
|
NM_000430.4(PAFAH1B1):c.118-14T>C
|
rs147692085
|
0.00468
|
NM_000430.4(PAFAH1B1):c.*1042_*1043del
|
rs55976318
|
0.00373
|
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=)
|
rs1803915
|
0.00347
|
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)
|
rs150380620
|
0.00115
|
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
|
rs140936904
|
0.00052
|
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=)
|
rs147983048
|
0.00015
|
NM_000430.4(PAFAH1B1):c.900+10A>G
|
rs746199176
|
0.00015
|
NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser)
|
rs377583144
|
0.00014
|
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val)
|
rs144659773
|
0.00013
|
NM_000430.4(PAFAH1B1):c.1159+13C>T
|
rs201338748
|
0.00012
|
NM_000430.4(PAFAH1B1):c.193-16C>T
|
rs200471557
|
0.00011
|
NM_000430.4(PAFAH1B1):c.1003-11T>C
|
rs371584771
|
0.00010
|
NM_000430.4(PAFAH1B1):c.1159+8C>T
|
rs199672477
|
0.00008
|
NM_000430.4(PAFAH1B1):c.1002C>T (p.Leu334=)
|
rs199648962
|
0.00007
|
NM_000430.4(PAFAH1B1):c.1181A>G (p.Tyr394Cys)
|
rs754775447
|
0.00007
|
NM_000430.4(PAFAH1B1):c.1159+15C>T
|
rs778417468
|
0.00004
|
NM_000430.4(PAFAH1B1):c.755G>C (p.Cys252Ser)
|
rs140360173
|
0.00004
|
NM_000430.4(PAFAH1B1):c.1003-9G>C
|
rs755753496
|
0.00003
|
NM_000430.4(PAFAH1B1):c.1185C>T (p.Val395=)
|
rs1295018167
|
0.00003
|
NM_000430.4(PAFAH1B1):c.1186G>A (p.Val396Ile)
|
rs781058937
|
0.00003
|
NM_000430.4(PAFAH1B1):c.43A>G (p.Ile15Val)
|
rs774411293
|
0.00003
|
NM_000430.4(PAFAH1B1):c.618T>A (p.His206Gln)
|
rs781710874
|
0.00003
|
NM_000430.4(PAFAH1B1):c.1080G>A (p.Lys360=)
|
rs1195364379
|
0.00002
|
NM_000430.4(PAFAH1B1):c.1160-17A>G
|
rs199947550
|
0.00002
|
NM_000430.4(PAFAH1B1):c.1160-20A>G
|
rs761485838
|
0.00002
|
NM_000430.4(PAFAH1B1):c.1197C>T (p.Ser399=)
|
rs747855539
|
0.00002
|
NM_000430.4(PAFAH1B1):c.240G>A (p.Thr80=)
|
rs150901708
|
0.00002
|
NM_000430.4(PAFAH1B1):c.253C>T (p.Leu85Phe)
|
rs139434124
|
0.00002
|
NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln)
|
rs374766360
|
0.00002
|
NM_000430.4(PAFAH1B1):c.483C>T (p.Ser161=)
|
rs532943486
|
0.00002
|
NM_000430.4(PAFAH1B1):c.567C>T (p.His189=)
|
rs141528563
|
0.00002
|
NM_000430.4(PAFAH1B1):c.569-4T>G
|
rs765106555
|
0.00002
|
NM_000430.4(PAFAH1B1):c.690C>T (p.Phe230=)
|
rs1351403324
|
0.00002
|
NM_000430.4(PAFAH1B1):c.711A>G (p.Val237=)
|
rs749721685
|
0.00002
|
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile)
|
rs769280736
|
0.00002
|
NM_000430.4(PAFAH1B1):c.798G>A (p.Lys266=)
|
rs766053480
|
0.00002
|
NM_000430.4(PAFAH1B1):c.1002+20C>A
|
rs2069272153
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1046G>A (p.Gly349Glu)
|
rs1480224569
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1087C>T (p.Arg363Cys)
|
rs2069359971
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser)
|
rs1167470350
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1159+14G>A
|
rs373237918
|
0.00001
|
NM_000430.4(PAFAH1B1):c.117+8T>C
|
rs988234105
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1212A>T (p.Val404=)
|
rs370748134
|
0.00001
|
NM_000430.4(PAFAH1B1):c.155A>G (p.Glu52Gly)
|
rs2069103350
|
0.00001
|
NM_000430.4(PAFAH1B1):c.177T>A (p.Ile59=)
|
rs1355582616
|
0.00001
|
NM_000430.4(PAFAH1B1):c.192+10T>C
|
rs1347695213
|
0.00001
|
NM_000430.4(PAFAH1B1):c.192+15T>C
|
rs587784255
|
0.00001
|
NM_000430.4(PAFAH1B1):c.399+18G>T
|
rs1245531690
|
0.00001
|
NM_000430.4(PAFAH1B1):c.400-13G>A
|
rs1346378389
|
0.00001
|
NM_000430.4(PAFAH1B1):c.456T>C (p.Ser152=)
|
rs1219032253
|
0.00001
|
NM_000430.4(PAFAH1B1):c.501C>T (p.Ser167=)
|
rs147910544
|
0.00001
|
NM_000430.4(PAFAH1B1):c.566A>C (p.His189Pro)
|
rs1030536153
|
0.00001
|
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=)
|
rs758682063
|
0.00001
|
NM_000430.4(PAFAH1B1):c.59G>A (p.Arg20His)
|
rs1030300693
|
0.00001
|
NM_000430.4(PAFAH1B1):c.644C>G (p.Thr215Ser)
|
rs770192064
|
0.00001
|
NM_000430.4(PAFAH1B1):c.646A>G (p.Ile216Val)
|
rs555806037
|
0.00001
|
NM_000430.4(PAFAH1B1):c.738C>T (p.Gly246=)
|
rs779796742
|
0.00001
|
NM_000430.4(PAFAH1B1):c.787G>A (p.Val263Ile)
|
rs769869336
|
0.00001
|
NM_000430.4(PAFAH1B1):c.844A>G (p.Ile282Val)
|
rs752776848
|
0.00001
|
NM_000430.4(PAFAH1B1):c.901-13A>T
|
rs764058558
|
0.00001
|
NM_000430.4(PAFAH1B1):c.987G>A (p.Met329Ile)
|
rs1194042667
|
0.00001
|
NM_000430.4(PAFAH1B1):c.991C>A (p.Leu331Ile)
|
rs138622703
|
0.00001
|
GRCh37/hg19 17p13.3(chr17:2494580-2538513)x3
|
|
|
GRCh37/hg19 17p13.3(chr17:2498767-2529611)x3
|
|
|
GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1
|
|
|
NC_000017.10:g.(?_2541583)_(2541634_?)dup
|
|
|
NC_000017.10:g.(?_2541583)_(2573645_?)del
|
|
|
NC_000017.10:g.(?_2568646)_(2570512_?)del
|
|
|
NC_000017.10:g.(?_2568646)_(2579920_?)dup
|
|
|
NC_000017.10:g.(?_2568646)_(2585096_?)del
|
|
|
NC_000017.10:g.(?_2568646)_(2585096_?)dup
|
|
|
NC_000017.10:g.(?_2569290)_(2576071_?)dup
|
|
|
NC_000017.10:g.(?_2573437)_(2573645_?)del
|
|
|
NC_000017.10:g.(?_2573437)_(2576071_?)del
|
|
|
NC_000017.10:g.(?_2573437)_(2585096_?)del
|
|
|
NC_000017.10:g.(?_2583438)_(2585096_?)dup
|
|
|
NC_000017.10:g.(?_2585003)_(2585096_?)del
|
|
|
NC_000017.11:g.2593327C>T
|
rs62068214
|
|
NM_000430.4(PAFAH1B1):c.*3634C>T
|
|
|
NM_000430.4(PAFAH1B1):c.-190-251A>G
|
rs16952273
|
|
NM_000430.4(PAFAH1B1):c.-191+1431_-191+1432insTTCTT
|
rs1188566045
|
|
NM_000430.4(PAFAH1B1):c.-191+1473_-191+1474del
|
rs543168607
|
|
NM_000430.4(PAFAH1B1):c.-191+19285C>G
|
|
|
NM_000430.4(PAFAH1B1):c.-191+19512G>T
|
|
|
NM_000430.4(PAFAH1B1):c.-191+19575G>A
|
|
|
NM_000430.4(PAFAH1B1):c.-191+19673_-191+19676dup
|
|
|
NM_000430.4(PAFAH1B1):c.-191+19837G>T
|
|
|
NM_000430.4(PAFAH1B1):c.-191+3737TC[2]
|
rs10606544
|
|
NM_000430.4(PAFAH1B1):c.-191+3776GT[10]
|
rs142241253
|
|
NM_000430.4(PAFAH1B1):c.-191+3794_-191+3795del
|
rs746390038
|
|
NM_000430.4(PAFAH1B1):c.-191+4048A>G
|
rs144414689
|
|
NM_000430.4(PAFAH1B1):c.1002+100G>A
|
rs116235430
|
|
NM_000430.4(PAFAH1B1):c.1002+10C>T
|
|
|
NM_000430.4(PAFAH1B1):c.1002+12T>C
|
rs745730592
|
|
NM_000430.4(PAFAH1B1):c.1002+1G>C
|
|
|
NM_000430.4(PAFAH1B1):c.1003-10dup
|
|
|
NM_000430.4(PAFAH1B1):c.1003-14T>C
|
|
|
NM_000430.4(PAFAH1B1):c.1003-4_1003-3insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTTTTTTGTTTTT
|
|
|
NM_000430.4(PAFAH1B1):c.1003-4del
|
|
|
NM_000430.4(PAFAH1B1):c.1003-9G>T
|
|
|
NM_000430.4(PAFAH1B1):c.1003-9del
|
|
|
NM_000430.4(PAFAH1B1):c.1009_1022del (p.His337fs)
|
rs2151673809
|
|
NM_000430.4(PAFAH1B1):c.1011del (p.His337fs)
|
rs2151673826
|
|
NM_000430.4(PAFAH1B1):c.1014T>C (p.Asp338=)
|
|
|
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)
|
rs797045855
|
|
NM_000430.4(PAFAH1B1):c.1021G>C (p.Val341Leu)
|
|
|
NM_000430.4(PAFAH1B1):c.1028G>A (p.Gly343Glu)
|
|
|
NM_000430.4(PAFAH1B1):c.1033C>T (p.Leu345=)
|
|
|
NM_000430.4(PAFAH1B1):c.1050G>A (p.Gly350=)
|
rs2151673884
|
|
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs)
|
rs113994200
|
|
NM_000430.4(PAFAH1B1):c.1052A>C (p.Lys351Thr)
|
|
|
NM_000430.4(PAFAH1B1):c.1052A>G (p.Lys351Arg)
|
|
|
NM_000430.4(PAFAH1B1):c.105T>C (p.Ala35=)
|
|
|
NM_000430.4(PAFAH1B1):c.1063A>G (p.Ser355Gly)
|
|
|
NM_000430.4(PAFAH1B1):c.1065T>C (p.Ser355=)
|
|
|
NM_000430.4(PAFAH1B1):c.1070C>G (p.Ala357Gly)
|
rs2069359491
|
|
NM_000430.4(PAFAH1B1):c.1072G>A (p.Asp358Asn)
|
rs2151673924
|
|
NM_000430.4(PAFAH1B1):c.1075G>T (p.Asp359Tyr)
|
rs2151673928
|
|
NM_000430.4(PAFAH1B1):c.1081A>T (p.Thr361Ser)
|
|
|
NM_000430.4(PAFAH1B1):c.1083C>G (p.Thr361=)
|
rs972690790
|
|
NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs)
|
rs2151673946
|
|
NM_000430.4(PAFAH1B1):c.1087C>G (p.Arg363Gly)
|
|
|
NM_000430.4(PAFAH1B1):c.1088G>C (p.Arg363Pro)
|
rs2151673957
|
|
NM_000430.4(PAFAH1B1):c.1089C>A (p.Arg363=)
|
|
|
NM_000430.4(PAFAH1B1):c.1089C>T (p.Arg363=)
|
|
|
NM_000430.4(PAFAH1B1):c.1090G>A (p.Val364Ile)
|
|
|
NM_000430.4(PAFAH1B1):c.1090G>T (p.Val364Leu)
|
rs768778197
|
|
NM_000430.4(PAFAH1B1):c.1112del (p.Arg371fs)
|
|
|
NM_000430.4(PAFAH1B1):c.111A>C (p.Leu37Phe)
|
|
|
NM_000430.4(PAFAH1B1):c.1128C>G (p.Leu376=)
|
|
|
NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn)
|
rs767670214
|
|
NM_000430.4(PAFAH1B1):c.1131T>C (p.Asn377=)
|
rs1368191889
|
|
NM_000430.4(PAFAH1B1):c.1134G>C (p.Ala378=)
|
|
|
NM_000430.4(PAFAH1B1):c.1138G>C (p.Glu380Gln)
|
|
|
NM_000430.4(PAFAH1B1):c.1145_1146del (p.Phe382fs)
|
|
|
NM_000430.4(PAFAH1B1):c.1151C>G (p.Thr384Ser)
|
|
|
NM_000430.4(PAFAH1B1):c.1159+15C>A
|
|
|
NM_000430.4(PAFAH1B1):c.1159+16G>A
|
|
|
NM_000430.4(PAFAH1B1):c.1159+1G>A
|
rs1057520515
|
|
NM_000430.4(PAFAH1B1):c.1159+2T>A
|
rs587784243
|
|
NM_000430.4(PAFAH1B1):c.1159+5del
|
rs886041664
|
|
NM_000430.4(PAFAH1B1):c.1159+6T>A
|
rs2151674067
|
|
NM_000430.4(PAFAH1B1):c.1159+9G>A
|
|
|
NM_000430.4(PAFAH1B1):c.1160-133G>T
|
rs115787518
|
|
NM_000430.4(PAFAH1B1):c.1160-13C>A
|
rs566753478
|
|
NM_000430.4(PAFAH1B1):c.1160-189G>T
|
rs145990395
|
|
NM_000430.4(PAFAH1B1):c.1160-19C>T
|
|
|
NM_000430.4(PAFAH1B1):c.1160-3C>T
|
|
|
NM_000430.4(PAFAH1B1):c.1160-7C>T
|
|
|
NM_000430.4(PAFAH1B1):c.1160-8T>A
|
|
|
NM_000430.4(PAFAH1B1):c.116_117+2dup
|
rs2151659410
|
|
NM_000430.4(PAFAH1B1):c.117+17A>G
|
rs2151659429
|
|
NM_000430.4(PAFAH1B1):c.117+18C>T
|
rs754046971
|
|
NM_000430.4(PAFAH1B1):c.117+1G>C
|
rs2151659413
|
|
NM_000430.4(PAFAH1B1):c.117+5G>C
|
rs1555526248
|
|
NM_000430.4(PAFAH1B1):c.1172C>T (p.Thr391Met)
|
|
|
NM_000430.4(PAFAH1B1):c.1173G>A (p.Thr391=)
|
|
|
NM_000430.4(PAFAH1B1):c.117_117+2del
|
rs1064796229
|
|
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile)
|
rs1131691295
|
|
NM_000430.4(PAFAH1B1):c.1199T>C (p.Val400Ala)
|
rs2151675417
|
|
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)
|
rs587784250
|
|
NM_000430.4(PAFAH1B1):c.1221G>A (p.Trp407Ter)
|
rs2151675439
|
|
NM_000430.4(PAFAH1B1):c.1224G>A (p.Glu408=)
|
rs1302727076
|
|
NM_000430.4(PAFAH1B1):c.1226G>A (p.Cys409Tyr)
|
|
|
NM_000430.4(PAFAH1B1):c.1229G>A (p.Arg410His)
|
rs1377109322
|
|
NM_000430.4(PAFAH1B1):c.123A>G (p.Glu41=)
|
rs2151660006
|
|
NM_000430.4(PAFAH1B1):c.124G>A (p.Glu42Lys)
|
|
|
NM_000430.4(PAFAH1B1):c.126A>G (p.Glu42=)
|
|
|
NM_000430.4(PAFAH1B1):c.135A>G (p.Lys45=)
|
|
|
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)
|
rs587784253
|
|
NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)
|
|
|
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)
|
rs587784254
|
|
NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter)
|
rs757993270
|
|
NM_000430.4(PAFAH1B1):c.171T>G (p.Ser57=)
|
rs765448987
|
|
NM_000430.4(PAFAH1B1):c.176T>C (p.Ile59Thr)
|
rs773195662
|
|
NM_000430.4(PAFAH1B1):c.178A>T (p.Arg60Ter)
|
|
|
NM_000430.4(PAFAH1B1):c.192+7A>G
|
|
|
NM_000430.4(PAFAH1B1):c.192+7_192+10del
|
|
|
NM_000430.4(PAFAH1B1):c.193-13G>A
|
|
|
NM_000430.4(PAFAH1B1):c.193-14T>C
|
|
|
NM_000430.4(PAFAH1B1):c.193-7T>C
|
|
|
NM_000430.4(PAFAH1B1):c.195T>A (p.Val65=)
|
|
|
NM_000430.4(PAFAH1B1):c.207A>G (p.Glu69=)
|
|
|
NM_000430.4(PAFAH1B1):c.21A>G (p.Gln7=)
|
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
NM_000430.4(PAFAH1B1):c.245G>T (p.Gly82Val)
|
|
|
NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs)
|
rs2151660952
|
|
NM_000430.4(PAFAH1B1):c.247_252dup (p.Gly83_Pro84dup)
|
rs999819130
|
|
NM_000430.4(PAFAH1B1):c.252T>C (p.Pro84=)
|
|
|
NM_000430.4(PAFAH1B1):c.254T>A (p.Leu85His)
|
|
|
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)
|
rs587784258
|
|
NM_000430.4(PAFAH1B1):c.277G>T (p.Glu93Ter)
|
|
|
NM_000430.4(PAFAH1B1):c.283A>G (p.Ile95Val)
|
|
|
NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg)
|
rs2151660984
|
|
NM_000430.4(PAFAH1B1):c.293C>T (p.Pro98Leu)
|
|
|
NM_000430.4(PAFAH1B1):c.294G>A (p.Pro98=)
|
|
|
NM_000430.4(PAFAH1B1):c.304T>G (p.Tyr102Asp)
|
|
|
NM_000430.4(PAFAH1B1):c.306T>C (p.Tyr102=)
|
|
|
NM_000430.4(PAFAH1B1):c.306T>G (p.Tyr102Ter)
|
|
|
NM_000430.4(PAFAH1B1):c.32+2dup
|
|
|
NM_000430.4(PAFAH1B1):c.32+9_32+12del
|
|
|
NM_000430.4(PAFAH1B1):c.33-14A>G
|
rs777496467
|
|
NM_000430.4(PAFAH1B1):c.33-1G>C
|
rs1057521243
|
|
NM_000430.4(PAFAH1B1):c.33-2577G>C
|
|
|
NM_000430.4(PAFAH1B1):c.333C>T (p.Val111=)
|
|
|
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter)
|
rs886041341
|
|
NM_000430.4(PAFAH1B1):c.338G>A (p.Arg113Gln)
|
|
|
NM_000430.4(PAFAH1B1):c.343A>G (p.Ile115Val)
|
rs1389070949
|
|
NM_000430.4(PAFAH1B1):c.351T>C (p.His117=)
|
|
|
NM_000430.4(PAFAH1B1):c.353C>G (p.Pro118Arg)
|
rs2151661052
|
|
NM_000430.4(PAFAH1B1):c.355G>A (p.Val119Met)
|
|
|
NM_000430.4(PAFAH1B1):c.357G>T (p.Val119=)
|
rs2069116549
|
|
NM_000430.4(PAFAH1B1):c.364G>C (p.Val122Leu)
|
|
|
NM_000430.4(PAFAH1B1):c.368T>C (p.Met123Thr)
|
rs1334642659
|
|
NM_000430.4(PAFAH1B1):c.389C>G (p.Ala130Gly)
|
|
|
NM_000430.4(PAFAH1B1):c.394A>G (p.Ile132Val)
|
|
|
NM_000430.4(PAFAH1B1):c.395T>C (p.Ile132Thr)
|
|
|
NM_000430.4(PAFAH1B1):c.399+11G>A
|
rs2151661114
|
|
NM_000430.4(PAFAH1B1):c.399+11G>C
|
rs2151661114
|
|
NM_000430.4(PAFAH1B1):c.399+134_399+135insA
|
rs1314692900
|
|
NM_000430.4(PAFAH1B1):c.399+146dup
|
rs934220950
|
|
NM_000430.4(PAFAH1B1):c.399+14A>C
|
|
|
NM_000430.4(PAFAH1B1):c.399+3A>G
|
rs777923145
|
|
NM_000430.4(PAFAH1B1):c.399+5T>C
|
rs749488964
|
|
NM_000430.4(PAFAH1B1):c.399+7T>G
|
rs1597569289
|
|
NM_000430.4(PAFAH1B1):c.400-15C>A
|
|
|
NM_000430.4(PAFAH1B1):c.400-15C>G
|
rs375418643
|
|
NM_000430.4(PAFAH1B1):c.400-16T>G
|
|
|
NM_000430.4(PAFAH1B1):c.402G>A (p.Val134=)
|
rs746003762
|
|
NM_000430.4(PAFAH1B1):c.419G>C (p.Gly140Ala)
|
|
|
NM_000430.4(PAFAH1B1):c.421G>A (p.Asp141Asn)
|
rs1555526698
|
|
NM_000430.4(PAFAH1B1):c.422A>G (p.Asp141Gly)
|
rs1226589466
|
|
NM_000430.4(PAFAH1B1):c.426T>C (p.Phe142=)
|
|
|
NM_000430.4(PAFAH1B1):c.427G>T (p.Glu143Ter)
|
rs2151663964
|
|
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)
|
rs587784267
|
|
NM_000430.4(PAFAH1B1):c.431G>C (p.Arg144Pro)
|
rs2151663968
|
|
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)
|
rs797045861
|
|
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg)
|
rs121434482
|
|
NM_000430.4(PAFAH1B1):c.447T>C (p.His149=)
|
rs2069162160
|
|
NM_000430.4(PAFAH1B1):c.449C>A (p.Thr150Lys)
|
|
|
NM_000430.4(PAFAH1B1):c.449C>T (p.Thr150Ile)
|
rs1174082142
|
|
NM_000430.4(PAFAH1B1):c.450A>C (p.Thr150=)
|
|
|
NM_000430.4(PAFAH1B1):c.453C>T (p.Asp151=)
|
|
|
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs)
|
rs587784268
|
|
NM_000430.4(PAFAH1B1):c.470C>T (p.Ser157Leu)
|
rs2069162720
|
|
NM_000430.4(PAFAH1B1):c.475G>A (p.Asp159Asn)
|
rs753583241
|
|
NM_000430.4(PAFAH1B1):c.477C>T (p.Asp159=)
|
|
|
NM_000430.4(PAFAH1B1):c.481A>G (p.Ser161Gly)
|
|
|
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)
|
rs121434487
|
|
NM_000430.4(PAFAH1B1):c.484G>T (p.Gly162Cys)
|
|
|
NM_000430.4(PAFAH1B1):c.490C>T (p.Leu164Phe)
|
|
|
NM_000430.4(PAFAH1B1):c.493C>T (p.Leu165=)
|
|
|
NM_000430.4(PAFAH1B1):c.518C>G (p.Thr173Ser)
|
rs2151664089
|
|
NM_000430.4(PAFAH1B1):c.51T>C (p.Asp17=)
|
rs2151659298
|
|
NM_000430.4(PAFAH1B1):c.522T>C (p.Ile174=)
|
|
|
NM_000430.4(PAFAH1B1):c.528A>G (p.Leu176=)
|
|
|
NM_000430.4(PAFAH1B1):c.553A>C (p.Ile185Leu)
|
|
|
NM_000430.4(PAFAH1B1):c.561C>T (p.Thr187=)
|
|
|
NM_000430.4(PAFAH1B1):c.562A>G (p.Met188Val)
|
|
|
NM_000430.4(PAFAH1B1):c.563T>C (p.Met188Thr)
|
rs1478372648
|
|
NM_000430.4(PAFAH1B1):c.568+18G>A
|
|
|
NM_000430.4(PAFAH1B1):c.568+4del
|
|
|
NM_000430.4(PAFAH1B1):c.568+6G>A
|
|
|
NM_000430.4(PAFAH1B1):c.568+8G>T
|
|
|
NM_000430.4(PAFAH1B1):c.568+8del
|
rs753373988
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000430.4(PAFAH1B1):c.569-13_569-12insACACATAATA
|
|
|
NM_000430.4(PAFAH1B1):c.569-14G>T
|
|
|
NM_000430.4(PAFAH1B1):c.569-20A>G
|
|
|
NM_000430.4(PAFAH1B1):c.569-6T>C
|
|
|
NM_000430.4(PAFAH1B1):c.569-9G>A
|
rs2069199944
|
|
NM_000430.4(PAFAH1B1):c.569G>C (p.Gly190Ala)
|
|
|
NM_000430.4(PAFAH1B1):c.581A>G (p.Asn194Ser)
|
|
|
NM_000430.4(PAFAH1B1):c.592_597dup (p.Val198_Ala199dup)
|
rs2151666355
|
|
NM_000430.4(PAFAH1B1):c.594A>G (p.Val198=)
|
|
|
NM_000430.4(PAFAH1B1):c.598A>G (p.Ile200Val)
|
|
|
NM_000430.4(PAFAH1B1):c.599T>C (p.Ile200Thr)
|
|
|
NM_000430.4(PAFAH1B1):c.603G>T (p.Met201Ile)
|
|
|
NM_000430.4(PAFAH1B1):c.620T>C (p.Ile207Thr)
|
|
|
NM_000430.4(PAFAH1B1):c.623T>C (p.Val208Ala)
|
rs2069200486
|
|
NM_000430.4(PAFAH1B1):c.628G>T (p.Ala210Ser)
|
rs2151666389
|
|
NM_000430.4(PAFAH1B1):c.629C>A (p.Ala210Asp)
|
|
|
NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter)
|
rs1567554574
|
|
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)
|
rs587784273
|
|
NM_000430.4(PAFAH1B1):c.635G>A (p.Arg212Lys)
|
rs2151666403
|
|
NM_000430.4(PAFAH1B1):c.643del (p.Thr215fs)
|
rs2151666409
|
|
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs)
|
rs587784275
|
|
NM_000430.4(PAFAH1B1):c.656G>A (p.Trp219Ter)
|
rs2151666445
|
|
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)
|
rs1262666760
|
|
NM_000430.4(PAFAH1B1):c.671+15T>C
|
|
|
NM_000430.4(PAFAH1B1):c.671+16T>C
|
|
|
NM_000430.4(PAFAH1B1):c.671+307G>A
|
rs144174526
|
|
NM_000430.4(PAFAH1B1):c.671+320dup
|
rs200096941
|
|
NM_000430.4(PAFAH1B1):c.671+9G>C
|
|
|
NM_000430.4(PAFAH1B1):c.672-12_672-9del
|
|
|
NM_000430.4(PAFAH1B1):c.672-14_672-12del
|
|
|
NM_000430.4(PAFAH1B1):c.672-4A>G
|
|
|
NM_000430.4(PAFAH1B1):c.672-8A>C
|
rs1597575249
|
|
NM_000430.4(PAFAH1B1):c.684G>T (p.Lys228Asn)
|
rs1567559660
|
|
NM_000430.4(PAFAH1B1):c.699_700del (p.His233fs)
|
|
|
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
|
rs797045865
|
|
NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter)
|
rs2151667800
|
|
NM_000430.4(PAFAH1B1):c.714T>C (p.Arg238=)
|
|
|
NM_000430.4(PAFAH1B1):c.715A>T (p.Met239Leu)
|
|
|
NM_000430.4(PAFAH1B1):c.721C>T (p.Arg241Trp)
|
rs906198937
|
|
NM_000430.4(PAFAH1B1):c.722G>A (p.Arg241Gln)
|
rs121434488
|
|
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro)
|
rs121434488
|
|
NM_000430.4(PAFAH1B1):c.735T>C (p.Asp245=)
|
|
|
NM_000430.4(PAFAH1B1):c.743_746dup (p.Ala250fs)
|
rs2069227856
|
|
NM_000430.4(PAFAH1B1):c.75A>G (p.Glu25=)
|
rs2151659370
|
|
NM_000430.4(PAFAH1B1):c.762T>C (p.Asn254=)
|
|
|
NM_000430.4(PAFAH1B1):c.769A>G (p.Thr257Ala)
|
|
|
NM_000430.4(PAFAH1B1):c.774G>A (p.Val258=)
|
|
|
NM_000430.4(PAFAH1B1):c.786C>T (p.Val262=)
|
|
|
NM_000430.4(PAFAH1B1):c.794del (p.Thr265fs)
|
rs2151667927
|
|
NM_000430.4(PAFAH1B1):c.801A>G (p.Glu267=)
|
|
|
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)
|
rs121434483
|
|
NM_000430.4(PAFAH1B1):c.826G>T (p.Glu276Ter)
|
rs886039665
|
|
NM_000430.4(PAFAH1B1):c.834G>C (p.Val278=)
|
rs2151667984
|
|
NM_000430.4(PAFAH1B1):c.841T>G (p.Cys281Gly)
|
rs587784288
|
|
NM_000430.4(PAFAH1B1):c.842del (p.Cys281fs)
|
|
|
NM_000430.4(PAFAH1B1):c.843C>A (p.Cys281Ter)
|
rs2151667999
|
|
NM_000430.4(PAFAH1B1):c.849C>G (p.Ser283=)
|
rs151092942
|
|
NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter)
|
rs1567559851
|
|
NM_000430.4(PAFAH1B1):c.867A>G (p.Ser289=)
|
|
|
NM_000430.4(PAFAH1B1):c.889A>G (p.Thr297Ala)
|
rs778412717
|
|
NM_000430.4(PAFAH1B1):c.892G>C (p.Gly298Arg)
|
|
|
NM_000430.4(PAFAH1B1):c.895T>A (p.Ser299Thr)
|
|
|
NM_000430.4(PAFAH1B1):c.900+10del
|
rs2151668079
|
|
NM_000430.4(PAFAH1B1):c.900+12A>G
|
rs768429806
|
|
NM_000430.4(PAFAH1B1):c.900+18G>A
|
rs1241857699
|
|
NM_000430.4(PAFAH1B1):c.900+1G>A
|
rs587784290
|
|
NM_000430.4(PAFAH1B1):c.900+5T>C
|
|
|
NM_000430.4(PAFAH1B1):c.900+6G>A
|
rs200211261
|
|
NM_000430.4(PAFAH1B1):c.901-14T>C
|
|
|
NM_000430.4(PAFAH1B1):c.901-1G>A
|
|
|
NM_000430.4(PAFAH1B1):c.901-4G>A
|
|
|
NM_000430.4(PAFAH1B1):c.901-6C>A
|
rs753907316
|
|
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs)
|
rs587784292
|
|
NM_000430.4(PAFAH1B1):c.914G>A (p.Gly305Asp)
|
|
|
NM_000430.4(PAFAH1B1):c.915T>C (p.Gly305=)
|
rs775210372
|
|
NM_000430.4(PAFAH1B1):c.930C>T (p.Phe310=)
|
|
|
NM_000430.4(PAFAH1B1):c.933G>A (p.Leu311=)
|
rs2069270565
|
|
NM_000430.4(PAFAH1B1):c.936G>C (p.Leu312=)
|
rs2069270710
|
|
NM_000430.4(PAFAH1B1):c.941G>T (p.Gly314Val)
|
rs1597577296
|
|
NM_000430.4(PAFAH1B1):c.954_955del (p.Lys318fs)
|
rs2151669999
|
|
NM_000430.4(PAFAH1B1):c.955A>G (p.Thr319Ala)
|
|
|
NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer)
|
rs1064793990
|
|
NM_000430.4(PAFAH1B1):c.95A>G (p.Lys32Arg)
|
|
|
NM_000430.4(PAFAH1B1):c.966G>A (p.Met322Ile)
|
|
|
NM_000430.4(PAFAH1B1):c.973G>A (p.Val325Ile)
|
rs2151670017
|
|
NM_000430.4(PAFAH1B1):c.995T>C (p.Met332Thr)
|
|
|