ClinVar Miner

List of variants in gene PAFAH1B1

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Gene type:
ClinVar version:
Total variants: 517
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HGVS dbSNP gnomAD frequency
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.*3627_*3628del rs58458769 0.11607
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.*1056C>T rs760380019 0.00002
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.818G>A (p.Arg273Gln) rs794729199 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(chr17:2496180-2498568)x1
GRCh37/hg19 17p13.3(chr17:2497629-2585485)x1
GRCh37/hg19 17p13.3(chr17:2498767-2529611)x3
GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
GRCh38/hg38 17p13.3(chr17:2599583-2624994)x3
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.(?_2638238)_(2638345_?)del
NC_000017.11:g.(?_2680139)_(2681852_?)del
NC_000017.11:g.2593327C>T rs62068214
NC_000017.11:g.2665367T>C
NM_000430.3:c.(32+1_33-1)_(399+1_400-1)del
NM_000430.3:c.(568+1_569-1)_(671+1_672-1)del
NM_000430.3:c.(?_-30)_(*220_?)del
NM_000430.4(PAFAH1B1):c.*1519AG[2] rs886052721
NM_000430.4(PAFAH1B1):c.*1934_*1935del rs149797541
NM_000430.4(PAFAH1B1):c.*3331dup rs886052730
NM_000430.4(PAFAH1B1):c.*3634C>T
NM_000430.4(PAFAH1B1):c.*3G>T rs113994197
NM_000430.4(PAFAH1B1):c.*532G>A rs886052716
NM_000430.4(PAFAH1B1):c.-176del rs886052711
NM_000430.4(PAFAH1B1):c.-190-251A>G rs16952273
NM_000430.4(PAFAH1B1):c.-190-8934C>G rs2068526832
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.-534_-529dup rs538397985
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>A rs113994203
NM_000430.4(PAFAH1B1):c.1002+1G>C
NM_000430.4(PAFAH1B1):c.1002+5G>A rs587784235
NM_000430.4(PAFAH1B1):c.1003-10dup
NM_000430.4(PAFAH1B1):c.1003-14T>C
NM_000430.4(PAFAH1B1):c.1003-30_1032del rs1555527743
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.1009C>G (p.His337Asp) rs587784236
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr) rs587784236
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.1024_1031del (p.Arg342fs) rs587784237
NM_000430.4(PAFAH1B1):c.1028G>A (p.Gly343Glu)
NM_000430.4(PAFAH1B1):c.1033C>T (p.Leu345=)
NM_000430.4(PAFAH1B1):c.1044dup (p.Gly349fs) rs2069358559
NM_000430.4(PAFAH1B1):c.1050G>A (p.Gly350=) rs2151673884
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1050dup (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.1063del (p.Ser355fs) rs587784238
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn) rs587784239
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.1100del (p.Tyr367fs) rs587784240
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
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.1135C>T (p.His379Tyr) rs587784242
NM_000430.4(PAFAH1B1):c.1136A>G (p.His379Arg) rs2151674034
NM_000430.4(PAFAH1B1):c.1138G>C (p.Glu380Gln)
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg) rs2069361452
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.1159G>T (p.Asp387Tyr) rs587784244
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.1165C>T (p.His389Tyr) rs587784245
NM_000430.4(PAFAH1B1):c.116T>C (p.Val39Ala)
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+3A>G
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.118-11_118-7del rs1555526298
NM_000430.4(PAFAH1B1):c.1188C>T (p.Val396=) rs587784246
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) rs1131691295
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp) rs587784247
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr) rs587784248
NM_000430.4(PAFAH1B1):c.1199T>C (p.Val400Ala) rs2151675417
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His) rs587784249
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.1233A>C (p.Ter411Cys) rs587784251
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.136_137del (p.Lys46fs) rs587784252
NM_000430.4(PAFAH1B1):c.140A>G (p.Tyr47Cys) rs768437076
NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) rs587784253
NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)
NM_000430.4(PAFAH1B1):c.154dup (p.Glu52fs) rs2069103320
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.177del (p.Arg60fs) rs1555526309
NM_000430.4(PAFAH1B1):c.178A>T (p.Arg60Ter)
NM_000430.4(PAFAH1B1):c.190_192+5dup rs797045857
NM_000430.4(PAFAH1B1):c.192+1G>A rs587784256
NM_000430.4(PAFAH1B1):c.192+1G>T rs587784256
NM_000430.4(PAFAH1B1):c.192+7A>G
NM_000430.4(PAFAH1B1):c.192+7_192+10del
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn) rs587784257
NM_000430.4(PAFAH1B1):c.193-13G>A
NM_000430.4(PAFAH1B1):c.193-14T>C
NM_000430.4(PAFAH1B1):c.193-1G>A
NM_000430.4(PAFAH1B1):c.193-7T>C
NM_000430.4(PAFAH1B1):c.195T>A (p.Val65=)
NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter) rs2068649745
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.282G>A (p.Trp94Ter) rs2151660977
NM_000430.4(PAFAH1B1):c.283A>G (p.Ile95Val)
NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg) rs2151660984
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs) rs797045858
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.305dup (p.Tyr102Ter) rs587784259
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.33-3C>G rs587784260
NM_000430.4(PAFAH1B1):c.33-3C>T rs587784260
NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG rs1555526239
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.347dup (p.His117fs) rs797045859
NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg) rs797045860
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.362G>A (p.Ser121Asn)
NM_000430.4(PAFAH1B1):c.364G>C (p.Val122Leu)
NM_000430.4(PAFAH1B1):c.368T>A (p.Met123Lys) rs1334642659
NM_000430.4(PAFAH1B1):c.368T>C (p.Met123Thr) rs1334642659
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp) rs587784261
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter) rs587784262
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val) rs587784263
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+1G>A rs587784264
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.3G>A (p.Met1Ile) rs587784265
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.400-1G>A rs2151663926
NM_000430.4(PAFAH1B1):c.402G>A (p.Val134=) rs746003762
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter) rs587784266
NM_000430.4(PAFAH1B1):c.416C>G (p.Thr139Ser)
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.425T>C (p.Phe142Ser) rs2151663957
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.460C>T (p.Gln154Ter) rs587784269
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.485G>A (p.Gly162Asp)
NM_000430.4(PAFAH1B1):c.490C>T (p.Leu164Phe)
NM_000430.4(PAFAH1B1):c.493C>T (p.Leu165=)
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr) rs200390886
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) rs121434484
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs) rs1555526718
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.521_523dup (p.Ile174_Lys175insIle) rs2151664099
NM_000430.4(PAFAH1B1):c.522T>C (p.Ile174=)
NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter) rs797045061
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs) rs587784270
NM_000430.4(PAFAH1B1):c.528A>G (p.Leu176=)
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs) rs587784271
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs) rs587784271
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+1G>A rs1555526733
NM_000430.4(PAFAH1B1):c.568+2T>C rs2151664151
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.569-3del rs797045863
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.569G>T (p.Gly190Val)
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg) rs587784272
NM_000430.4(PAFAH1B1):c.581A>G (p.Asn194Ser)
NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser) rs975702095
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.644_651del (p.Thr215fs) rs587784274
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs) rs587784275
NM_000430.4(PAFAH1B1):c.650A>T (p.Lys217Ile)
NM_000430.4(PAFAH1B1):c.655T>G (p.Trp219Gly) rs2069200834
NM_000430.4(PAFAH1B1):c.656G>A (p.Trp219Ter) rs2151666445
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter) rs587784276
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs) rs587784277
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met) rs1262666760
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter) rs587784278
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs) rs797045864
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+4A>G rs587784279
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000430.4(PAFAH1B1):c.671+9G>C
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp) rs587784281
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.675C>G (p.Tyr225Ter) rs587784282
NM_000430.4(PAFAH1B1):c.680_681del (p.Val227fs) rs2069226261
NM_000430.4(PAFAH1B1):c.681dup (p.Lys228fs) rs2151667785
NM_000430.4(PAFAH1B1):c.684G>T (p.Lys228Asn) rs1567559660
NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=) rs587784283
NM_000430.4(PAFAH1B1):c.699_700del (p.His233fs)
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000430.4(PAFAH1B1):c.707G>A (p.Trp236Ter)
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.716dup (p.Met239fs) rs587784284
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs) rs797045866
NM_000430.4(PAFAH1B1):c.721C>T (p.Arg241Trp) rs906198937
NM_000430.4(PAFAH1B1):c.721del (p.Arg241fs) rs2069227227
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.728_732dup (p.Asp245fs) rs797045867
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter) rs587784285
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter) rs587784286
NM_000430.4(PAFAH1B1):c.735T>C (p.Asp245=)
NM_000430.4(PAFAH1B1):c.743T>C (p.Leu248Pro) rs2069227815
NM_000430.4(PAFAH1B1):c.743_746dup (p.Ala250fs) rs2069227856
NM_000430.4(PAFAH1B1):c.748G>A (p.Ala250Thr)
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg) rs587784287
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.770_772delinsTGACCCA (p.Thr257fs) rs797045868
NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs) rs797045869
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.829dup (p.His277fs) rs797045870
NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro) rs121434490
NM_000430.4(PAFAH1B1):c.834G>C (p.Val278=) rs2151667984
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg) rs587784288
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.84T>G (p.Tyr28Ter) rs369259961
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter) rs587784289
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.899A>G (p.Glu300Gly) rs1555527149
NM_000430.4(PAFAH1B1):c.900+10del rs2151668079
NM_000430.4(PAFAH1B1):c.900+11dup rs886052713
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.900G>A (p.Glu300=) rs587784291
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp) rs587784291
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.910del (p.Ser304fs) rs587784292
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs) rs797045871
NM_000430.4(PAFAH1B1):c.914G>A (p.Gly305Asp)
NM_000430.4(PAFAH1B1):c.915T>C (p.Gly305=) rs775210372
NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser) rs121434486
NM_000430.4(PAFAH1B1):c.930C>T (p.Phe310=)
NM_000430.4(PAFAH1B1):c.933G>A (p.Leu311=) rs2069270565
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs) rs797045872
NM_000430.4(PAFAH1B1):c.936G>C (p.Leu312=) rs2069270710
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe) rs587784293
NM_000430.4(PAFAH1B1):c.941G>T (p.Gly314Val) rs1597577296
NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His) rs121434485
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.965T>G (p.Met322Arg) rs587784294
NM_000430.4(PAFAH1B1):c.966G>A (p.Met322Ile)
NM_000430.4(PAFAH1B1):c.967T>A (p.Trp323Arg) rs2069271269
NM_000430.4(PAFAH1B1):c.973G>A (p.Val325Ile) rs2151670017
NM_000430.4(PAFAH1B1):c.991_1002+10del rs1567561137
NM_000430.4(PAFAH1B1):c.995T>C (p.Met332Thr)

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