ClinVar Miner

List of variants in gene PAFAH1B1 reported by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143 0.01770
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614 0.01444
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011 0.00638
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085 0.00468
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) rs1803915 0.00347
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00111
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00055
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=) rs147983048 0.00021
NM_000430.4(PAFAH1B1):c.483C>T (p.Ser161=) rs532943486 0.00016
NM_000430.4(PAFAH1B1):c.900+10A>G rs746199176 0.00014
NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser) rs377583144 0.00013
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.400-15C>A rs375418643 0.00009
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 0.00006
NM_000430.4(PAFAH1B1):c.1172C>T (p.Thr391Met) rs757892852 0.00005
NM_000430.4(PAFAH1B1):c.1159+15C>T rs778417468 0.00004
NM_000430.4(PAFAH1B1):c.117+18C>T rs754046971 0.00004
NM_000430.4(PAFAH1B1):c.283A>G (p.Ile95Val) rs756443284 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.1089C>T (p.Arg363=) rs746755557 0.00003
NM_000430.4(PAFAH1B1):c.1173G>A (p.Thr391=) rs139912302 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.1197C>T (p.Ser399=) rs747855539 0.00003
NM_000430.4(PAFAH1B1):c.43A>G (p.Ile15Val) rs774411293 0.00003
NM_000430.4(PAFAH1B1):c.568+18G>A rs1253036042 0.00003
NM_000430.4(PAFAH1B1):c.618T>A (p.His206Gln) rs781710874 0.00003
NM_000430.4(PAFAH1B1):c.769A>G (p.Thr257Ala) rs1198271089 0.00003
NM_000430.4(PAFAH1B1):c.1080G>A (p.Lys360=) rs1195364379 0.00002
NM_000430.4(PAFAH1B1):c.1090G>A (p.Val364Ile) rs768778197 0.00002
NM_000430.4(PAFAH1B1):c.1159+9G>A rs759885486 0.00002
NM_000430.4(PAFAH1B1):c.126A>G (p.Glu42=) rs1306889751 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.294G>A (p.Pro98=) rs150061782 0.00002
NM_000430.4(PAFAH1B1):c.306T>C (p.Tyr102=) rs779519495 0.00002
NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln) rs374766360 0.00002
NM_000430.4(PAFAH1B1):c.450A>C (p.Thr150=) rs761226380 0.00002
NM_000430.4(PAFAH1B1):c.567C>T (p.His189=) rs141528563 0.00002
NM_000430.4(PAFAH1B1):c.690C>T (p.Phe230=) rs1351403324 0.00002
NM_000430.4(PAFAH1B1):c.738C>T (p.Gly246=) rs779796742 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.1014T>C (p.Asp338=) rs376596723 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.111A>C (p.Leu37Phe) rs955541680 0.00001
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser) rs1167470350 0.00001
NM_000430.4(PAFAH1B1):c.1138G>C (p.Glu380Gln) rs1308269662 0.00001
NM_000430.4(PAFAH1B1):c.1151C>G (p.Thr384Ser) rs763573429 0.00001
NM_000430.4(PAFAH1B1):c.1159+14G>A rs373237918 0.00001
NM_000430.4(PAFAH1B1):c.1159+16G>A rs567473909 0.00001
NM_000430.4(PAFAH1B1):c.1160-17A>G rs199947550 0.00001
NM_000430.4(PAFAH1B1):c.1160-20A>G rs761485838 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.135A>G (p.Lys45=) rs775353063 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.192+7A>G rs2069103829 0.00001
NM_000430.4(PAFAH1B1):c.193-13G>A rs1042035604 0.00001
NM_000430.4(PAFAH1B1):c.193-7T>C rs529421112 0.00001
NM_000430.4(PAFAH1B1):c.207A>G (p.Glu69=) rs904131140 0.00001
NM_000430.4(PAFAH1B1):c.293C>T (p.Pro98Leu) rs764855780 0.00001
NM_000430.4(PAFAH1B1):c.333C>T (p.Val111=) rs369129485 0.00001
NM_000430.4(PAFAH1B1):c.343A>G (p.Ile115Val) rs1389070949 0.00001
NM_000430.4(PAFAH1B1):c.368T>C (p.Met123Thr) rs1334642659 0.00001
NM_000430.4(PAFAH1B1):c.399+14A>C rs1013720755 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.400-16T>G rs927461308 0.00001
NM_000430.4(PAFAH1B1):c.402G>A (p.Val134=) rs746003762 0.00001
NM_000430.4(PAFAH1B1):c.449C>T (p.Thr150Ile) rs1174082142 0.00001
NM_000430.4(PAFAH1B1):c.453C>T (p.Asp151=) rs768998763 0.00001
NM_000430.4(PAFAH1B1):c.456T>C (p.Ser152=) rs1219032253 0.00001
NM_000430.4(PAFAH1B1):c.475G>A (p.Asp159Asn) rs753583241 0.00001
NM_000430.4(PAFAH1B1):c.493C>T (p.Leu165=) rs1416027410 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.569-4T>G rs765106555 0.00001
NM_000430.4(PAFAH1B1):c.598A>G (p.Ile200Val) rs2069200159 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.671+16T>C rs774993809 0.00001
NM_000430.4(PAFAH1B1):c.711A>G (p.Val237=) rs749721685 0.00001
NM_000430.4(PAFAH1B1):c.721C>T (p.Arg241Trp) rs906198937 0.00001
NM_000430.4(PAFAH1B1):c.722G>A (p.Arg241Gln) rs121434488 0.00001
NM_000430.4(PAFAH1B1):c.735T>C (p.Asp245=) rs1335643092 0.00001
NM_000430.4(PAFAH1B1):c.786C>T (p.Val262=) rs1380165918 0.00001
NM_000430.4(PAFAH1B1):c.787G>A (p.Val263Ile) rs769869336 0.00001
NM_000430.4(PAFAH1B1):c.801A>G (p.Glu267=) rs759776721 0.00001
NM_000430.4(PAFAH1B1):c.844A>G (p.Ile282Val) rs752776848 0.00001
NM_000430.4(PAFAH1B1):c.900+6G>A rs200211261 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
NC_000017.10:g.(?_2541583)_(2541634_?)del
NC_000017.10:g.(?_2541583)_(2541634_?)dup
NC_000017.10:g.(?_2541583)_(2573645_?)del
NC_000017.10:g.(?_2541583)_(2573645_?)dup
NC_000017.10:g.(?_2541583)_(2576071_?)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)_(2579920_?)dup
NC_000017.10:g.(?_2573437)_(2585096_?)del
NC_000017.10:g.(?_2577334)_(2579920_?)del
NC_000017.10:g.(?_2583438)_(2585096_?)del
NC_000017.10:g.(?_2583438)_(2585096_?)dup
NC_000017.10:g.(?_2585003)_(2585096_?)del
NM_000430.4(PAFAH1B1):c.1002+10C>T rs2544112231
NM_000430.4(PAFAH1B1):c.1002+12T>C rs745730592
NM_000430.4(PAFAH1B1):c.1002+1G>C rs113994203
NM_000430.4(PAFAH1B1):c.1003-10dup rs1386851020
NM_000430.4(PAFAH1B1):c.1003-14T>C rs2544121362
NM_000430.4(PAFAH1B1):c.1003-4_1003-3insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTTTTTTGTTTTT rs2544121354
NM_000430.4(PAFAH1B1):c.1003-4del rs2544121392
NM_000430.4(PAFAH1B1):c.1003-9G>T rs755753496
NM_000430.4(PAFAH1B1):c.1003-9del rs2544121385
NM_000430.4(PAFAH1B1):c.1009_1022del (p.His337fs) rs2151673809
NM_000430.4(PAFAH1B1):c.100del (p.Glu34fs)
NM_000430.4(PAFAH1B1):c.1011del (p.His337fs) rs2151673826
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs) rs797045855
NM_000430.4(PAFAH1B1):c.1021G>C (p.Val341Leu) rs2069358141
NM_000430.4(PAFAH1B1):c.1028G>A (p.Gly343Glu) rs2544121474
NM_000430.4(PAFAH1B1):c.1033C>T (p.Leu345=) rs1411254406
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) rs745785490
NM_000430.4(PAFAH1B1):c.1052A>G (p.Lys351Arg) rs745785490
NM_000430.4(PAFAH1B1):c.105T>C (p.Ala35=) rs2544086066
NM_000430.4(PAFAH1B1):c.1063A>G (p.Ser355Gly) rs2544121617
NM_000430.4(PAFAH1B1):c.1065T>C (p.Ser355=) rs2544121639
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) rs1272529010
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) rs2069359971
NM_000430.4(PAFAH1B1):c.1088G>A (p.Arg363His)
NM_000430.4(PAFAH1B1):c.1088G>C (p.Arg363Pro) rs2151673957
NM_000430.4(PAFAH1B1):c.1089C>A (p.Arg363=) rs746755557
NM_000430.4(PAFAH1B1):c.1090G>T (p.Val364Leu) rs768778197
NM_000430.4(PAFAH1B1):c.1112del (p.Arg371fs) rs2544121801
NM_000430.4(PAFAH1B1):c.1115G>A (p.Cys372Tyr)
NM_000430.4(PAFAH1B1):c.1128C>G (p.Leu376=) rs2544121846
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=) rs773902841
NM_000430.4(PAFAH1B1):c.1145_1146del (p.Phe382fs) rs2544121917
NM_000430.4(PAFAH1B1):c.1159+15C>A rs778417468
NM_000430.4(PAFAH1B1):c.1159+2T>A rs587784243
NM_000430.4(PAFAH1B1):c.1160-13C>A rs566753478
NM_000430.4(PAFAH1B1):c.1160-18C>G
NM_000430.4(PAFAH1B1):c.1160-19C>T rs1266218205
NM_000430.4(PAFAH1B1):c.1160-3C>T rs2544124867
NM_000430.4(PAFAH1B1):c.1160-7C>T rs2069387613
NM_000430.4(PAFAH1B1):c.1160-8T>A rs2544124862
NM_000430.4(PAFAH1B1):c.116_117+2dup rs2151659410
NM_000430.4(PAFAH1B1):c.117+17A>G rs2151659429
NM_000430.4(PAFAH1B1):c.1177C>T (p.Pro393Ser)
NM_000430.4(PAFAH1B1):c.118-11_118-7del rs1555526298
NM_000430.4(PAFAH1B1):c.1199T>C (p.Val400Ala) rs2151675417
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) rs2544125000
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) rs2544087906
NM_000430.4(PAFAH1B1):c.144T>C (p.Ala48=)
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) rs587784253
NM_000430.4(PAFAH1B1):c.154G>T (p.Glu52Ter)
NM_000430.4(PAFAH1B1):c.154del (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.171T>G (p.Ser57=) rs765448987
NM_000430.4(PAFAH1B1):c.176T>C (p.Ile59Thr) rs773195662
NM_000430.4(PAFAH1B1):c.178A>T (p.Arg60Ter) rs2544088176
NM_000430.4(PAFAH1B1):c.192+11C>A
NM_000430.4(PAFAH1B1):c.192+11C>G
NM_000430.4(PAFAH1B1):c.192+7_192+10del rs536709656
NM_000430.4(PAFAH1B1):c.193-14T>C rs2544089912
NM_000430.4(PAFAH1B1):c.195T>A (p.Val65=) rs2544089958
NM_000430.4(PAFAH1B1):c.21A>G (p.Gln7=) rs2068649810
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.245G>T (p.Gly82Val) rs2544090056
NM_000430.4(PAFAH1B1):c.247_252dup (p.Gly83_Pro84dup) rs999819130
NM_000430.4(PAFAH1B1):c.252T>C (p.Pro84=) rs1249003392
NM_000430.4(PAFAH1B1):c.254T>A (p.Leu85His) rs1183035372
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.4(PAFAH1B1):c.277G>T (p.Glu93Ter) rs2544090147
NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg) rs2151660984
NM_000430.4(PAFAH1B1):c.288C>T (p.Pro96=)
NM_000430.4(PAFAH1B1):c.304T>G (p.Tyr102Asp) rs2544090239
NM_000430.4(PAFAH1B1):c.306T>G (p.Tyr102Ter) rs779519495
NM_000430.4(PAFAH1B1):c.32+2dup rs2544028588
NM_000430.4(PAFAH1B1):c.32+8T>G rs2544028602
NM_000430.4(PAFAH1B1):c.32+9_32+12del rs767379599
NM_000430.4(PAFAH1B1):c.32T>C (p.Leu11Pro)
NM_000430.4(PAFAH1B1):c.33-14A>G rs777496467
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.4(PAFAH1B1):c.338G>A (p.Arg113Gln) rs2544090320
NM_000430.4(PAFAH1B1):c.351T>C (p.His117=) rs2544090339
NM_000430.4(PAFAH1B1):c.355G>A (p.Val119Met) rs2544090357
NM_000430.4(PAFAH1B1):c.357G>T (p.Val119=) rs2069116549
NM_000430.4(PAFAH1B1):c.378T>G (p.Ala126=)
NM_000430.4(PAFAH1B1):c.37C>A (p.Arg13=)
NM_000430.4(PAFAH1B1):c.389C>G (p.Ala130Gly) rs2544090438
NM_000430.4(PAFAH1B1):c.394A>G (p.Ile132Val) rs2544090463
NM_000430.4(PAFAH1B1):c.395T>C (p.Ile132Thr) rs2544090471
NM_000430.4(PAFAH1B1):c.399+11G>A rs2151661114
NM_000430.4(PAFAH1B1):c.399+11G>C rs2151661114
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>G rs375418643
NM_000430.4(PAFAH1B1):c.419G>C (p.Gly140Ala) rs2544096712
NM_000430.4(PAFAH1B1):c.422A>G (p.Asp141Gly) rs1226589466
NM_000430.4(PAFAH1B1):c.426T>C (p.Phe142=) rs2544096771
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.446A>G (p.His149Arg) rs121434482
NM_000430.4(PAFAH1B1):c.447T>C (p.His149=) rs2069162160
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.477C>T (p.Asp159=) rs2544096960
NM_000430.4(PAFAH1B1):c.481A>G (p.Ser161Gly) rs2544096971
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.490C>T (p.Leu164Phe) rs2544097013
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=) rs2069164064
NM_000430.4(PAFAH1B1):c.528A>G (p.Leu176=) rs767021387
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs) rs587784271
NM_000430.4(PAFAH1B1):c.548_551del (p.Glu183fs)
NM_000430.4(PAFAH1B1):c.553A>C (p.Ile185Leu) rs2069164611
NM_000430.4(PAFAH1B1):c.561C>T (p.Thr187=) rs2069164808
NM_000430.4(PAFAH1B1):c.562A>G (p.Met188Val) rs2544097249
NM_000430.4(PAFAH1B1):c.563T>C (p.Met188Thr) rs1478372648
NM_000430.4(PAFAH1B1):c.568+4del rs2544097291
NM_000430.4(PAFAH1B1):c.568+6G>A rs2069165081
NM_000430.4(PAFAH1B1):c.568+8G>T rs746076254
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 rs2544102362
NM_000430.4(PAFAH1B1):c.569-14G>T rs2544102356
NM_000430.4(PAFAH1B1):c.569-20A>G rs1486852377
NM_000430.4(PAFAH1B1):c.569-6T>C rs2544102391
NM_000430.4(PAFAH1B1):c.569-9G>A rs2069199944
NM_000430.4(PAFAH1B1):c.569G>C (p.Gly190Ala) rs2544102409
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063
NM_000430.4(PAFAH1B1):c.581A>G (p.Asn194Ser) rs2544102463
NM_000430.4(PAFAH1B1):c.586T>G (p.Ser196Ala)
NM_000430.4(PAFAH1B1):c.592_597dup (p.Val198_Ala199dup) rs2151666355
NM_000430.4(PAFAH1B1):c.594A>G (p.Val198=) rs2544102494
NM_000430.4(PAFAH1B1):c.599T>C (p.Ile200Thr) rs2544102534
NM_000430.4(PAFAH1B1):c.603G>T (p.Met201Ile) rs747123825
NM_000430.4(PAFAH1B1):c.608A>T (p.Asn203Ile)
NM_000430.4(PAFAH1B1):c.628G>T (p.Ala210Ser) rs2151666389
NM_000430.4(PAFAH1B1):c.629C>A (p.Ala210Asp) rs2544102636
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+14G>A
NM_000430.4(PAFAH1B1):c.671+15T>C rs1459912224
NM_000430.4(PAFAH1B1):c.671+15T>G
NM_000430.4(PAFAH1B1):c.671+3_671+4insCTTTAGTTTAGTTGAAAAGTA
NM_000430.4(PAFAH1B1):c.671+9G>C rs1209043727
NM_000430.4(PAFAH1B1):c.672-12_672-9del rs781662793
NM_000430.4(PAFAH1B1):c.672-14_672-12del rs2544106138
NM_000430.4(PAFAH1B1):c.672-4A>G rs2544106186
NM_000430.4(PAFAH1B1):c.672-8A>C rs1597575249
NM_000430.4(PAFAH1B1):c.699_700del (p.His233fs) rs2544106241
NM_000430.4(PAFAH1B1):c.714T>C (p.Arg238=) rs2069227008
NM_000430.4(PAFAH1B1):c.715A>T (p.Met239Leu) rs2544106323
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) rs121434488
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.761A>G (p.Asn254Ser)
NM_000430.4(PAFAH1B1):c.762T>C (p.Asn254=) rs2544106519
NM_000430.4(PAFAH1B1):c.774G>A (p.Val258=) rs2151667904
NM_000430.4(PAFAH1B1):c.788T>C (p.Val263Ala)
NM_000430.4(PAFAH1B1):c.794del (p.Thr265fs) rs2151667927
NM_000430.4(PAFAH1B1):c.804dup (p.Lys269fs)
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
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) rs2544106929
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=) rs898061099
NM_000430.4(PAFAH1B1):c.889A>G (p.Thr297Ala) rs778412717
NM_000430.4(PAFAH1B1):c.892G>C (p.Gly298Arg) rs1210438471
NM_000430.4(PAFAH1B1):c.895T>A (p.Ser299Thr) rs2544107085
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+5T>C rs1342299684
NM_000430.4(PAFAH1B1):c.901-14T>C rs2544111778
NM_000430.4(PAFAH1B1):c.901-1G>A rs879195935
NM_000430.4(PAFAH1B1):c.901-4G>A rs2544111799
NM_000430.4(PAFAH1B1):c.901-6C>A rs753907316
NM_000430.4(PAFAH1B1):c.914G>A (p.Gly305Asp) rs2544111900
NM_000430.4(PAFAH1B1):c.915T>C (p.Gly305=) rs775210372
NM_000430.4(PAFAH1B1):c.915T>G (p.Gly305=)
NM_000430.4(PAFAH1B1):c.930C>T (p.Phe310=) rs2544111957
NM_000430.4(PAFAH1B1):c.933G>A (p.Leu311=) rs2069270565
NM_000430.4(PAFAH1B1):c.939T>C (p.Ser313=)
NM_000430.4(PAFAH1B1):c.941G>C (p.Gly314Ala)
NM_000430.4(PAFAH1B1):c.955A>G (p.Thr319Ala) rs2544112017
NM_000430.4(PAFAH1B1):c.95A>G (p.Lys32Arg) rs2544086053
NM_000430.4(PAFAH1B1):c.966G>A (p.Met322Ile) rs2544112077
NM_000430.4(PAFAH1B1):c.973G>A (p.Val325Ile) rs2151670017
NM_000430.4(PAFAH1B1):c.987del (p.Met329fs)
NM_000430.4(PAFAH1B1):c.995T>C (p.Met332Thr) rs1451784292
NM_000430.4(PAFAH1B1):c.99G>T (p.Lys33Asn)

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