NM_000430.4(PAFAH1B1):c.*3627_*3628del
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rs58458769
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0.11607
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NM_000430.4(PAFAH1B1):c.*1042_*1043del
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rs55976318
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0.00373
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NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
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rs140936904
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0.00052
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NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser)
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rs377583144
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0.00014
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NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val)
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rs144659773
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0.00013
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NM_000430.4(PAFAH1B1):c.755G>C (p.Cys252Ser)
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rs140360173
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0.00004
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NM_000430.4(PAFAH1B1):c.43A>G (p.Ile15Val)
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rs774411293
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0.00003
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NM_000430.4(PAFAH1B1):c.618T>A (p.His206Gln)
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rs781710874
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0.00003
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NM_000430.4(PAFAH1B1):c.*1056C>T
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rs760380019
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0.00002
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NM_000430.4(PAFAH1B1):c.253C>T (p.Leu85Phe)
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rs139434124
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0.00002
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NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln)
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rs374766360
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0.00002
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NM_000430.4(PAFAH1B1):c.569-4T>G
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rs765106555
|
0.00002
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NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile)
|
rs769280736
|
0.00002
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NM_000430.4(PAFAH1B1):c.1046G>A (p.Gly349Glu)
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rs1480224569
|
0.00001
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NM_000430.4(PAFAH1B1):c.1087C>T (p.Arg363Cys)
|
rs2069359971
|
0.00001
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NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser)
|
rs1167470350
|
0.00001
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NM_000430.4(PAFAH1B1):c.155A>G (p.Glu52Gly)
|
rs2069103350
|
0.00001
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NM_000430.4(PAFAH1B1):c.192+15T>C
|
rs587784255
|
0.00001
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NM_000430.4(PAFAH1B1):c.566A>C (p.His189Pro)
|
rs1030536153
|
0.00001
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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
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NM_000430.4(PAFAH1B1):c.844A>G (p.Ile282Val)
|
rs752776848
|
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
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GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
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NC_000017.10:g.(?_2568646)_(2585096_?)dup
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NC_000017.10:g.(?_2583438)_(2585096_?)dup
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NC_000017.10:g.(?_2585003)_(2585096_?)del
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NM_000430.4(PAFAH1B1):c.*1519AG[2]
|
rs886052721
|
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NM_000430.4(PAFAH1B1):c.*3331dup
|
rs886052730
|
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NM_000430.4(PAFAH1B1):c.*532G>A
|
rs886052716
|
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NM_000430.4(PAFAH1B1):c.-176del
|
rs886052711
|
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NM_000430.4(PAFAH1B1):c.-190-8934C>G
|
rs2068526832
|
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NM_000430.4(PAFAH1B1):c.1003-4_1003-3insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTTTTTTGTTTTT
|
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NM_000430.4(PAFAH1B1):c.1028G>A (p.Gly343Glu)
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NM_000430.4(PAFAH1B1):c.1052A>C (p.Lys351Thr)
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NM_000430.4(PAFAH1B1):c.1052A>G (p.Lys351Arg)
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NM_000430.4(PAFAH1B1):c.1063A>G (p.Ser355Gly)
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NM_000430.4(PAFAH1B1):c.1075G>T (p.Asp359Tyr)
|
rs2151673928
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NM_000430.4(PAFAH1B1):c.1081A>T (p.Thr361Ser)
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NM_000430.4(PAFAH1B1):c.1087C>G (p.Arg363Gly)
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NM_000430.4(PAFAH1B1):c.1088G>C (p.Arg363Pro)
|
rs2151673957
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NM_000430.4(PAFAH1B1):c.1090G>A (p.Val364Ile)
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NM_000430.4(PAFAH1B1):c.1090G>T (p.Val364Leu)
|
rs768778197
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NM_000430.4(PAFAH1B1):c.111A>C (p.Leu37Phe)
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NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn)
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rs767670214
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NM_000430.4(PAFAH1B1):c.1138G>C (p.Glu380Gln)
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NM_000430.4(PAFAH1B1):c.1151C>G (p.Thr384Ser)
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|
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NM_000430.4(PAFAH1B1):c.1159+6T>A
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rs2151674067
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NM_000430.4(PAFAH1B1):c.1160-3C>T
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NM_000430.4(PAFAH1B1):c.116T>C (p.Val39Ala)
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NM_000430.4(PAFAH1B1):c.116_117+2dup
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rs2151659410
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NM_000430.4(PAFAH1B1):c.117+3A>G
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NM_000430.4(PAFAH1B1):c.118-11_118-7del
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rs1555526298
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NM_000430.4(PAFAH1B1):c.1188C>T (p.Val396=)
|
rs587784246
|
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NM_000430.4(PAFAH1B1):c.1199T>C (p.Val400Ala)
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rs2151675417
|
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NM_000430.4(PAFAH1B1):c.1221G>A (p.Trp407Ter)
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rs2151675439
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NM_000430.4(PAFAH1B1):c.1226G>A (p.Cys409Tyr)
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NM_000430.4(PAFAH1B1):c.124G>A (p.Glu42Lys)
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NM_000430.4(PAFAH1B1):c.140A>G (p.Tyr47Cys)
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rs768437076
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NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)
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rs587784254
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NM_000430.4(PAFAH1B1):c.176T>C (p.Ile59Thr)
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rs773195662
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NM_000430.4(PAFAH1B1):c.245G>T (p.Gly82Val)
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|
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NM_000430.4(PAFAH1B1):c.247_252dup (p.Gly83_Pro84dup)
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rs999819130
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NM_000430.4(PAFAH1B1):c.254T>A (p.Leu85His)
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|
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NM_000430.4(PAFAH1B1):c.257_258insGTC (p.Gly86_Gln87insSer)
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NM_000430.4(PAFAH1B1):c.293C>T (p.Pro98Leu)
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NM_000430.4(PAFAH1B1):c.304T>G (p.Tyr102Asp)
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|
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NM_000430.4(PAFAH1B1):c.32+2dup
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NM_000430.4(PAFAH1B1):c.33-3C>G
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rs587784260
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NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG
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rs1555526239
|
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NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg)
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rs797045860
|
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NM_000430.4(PAFAH1B1):c.353C>G (p.Pro118Arg)
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rs2151661052
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NM_000430.4(PAFAH1B1):c.355G>A (p.Val119Met)
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NM_000430.4(PAFAH1B1):c.362G>A (p.Ser121Asn)
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NM_000430.4(PAFAH1B1):c.364G>C (p.Val122Leu)
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NM_000430.4(PAFAH1B1):c.368T>C (p.Met123Thr)
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rs1334642659
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NM_000430.4(PAFAH1B1):c.389C>G (p.Ala130Gly)
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NM_000430.4(PAFAH1B1):c.394A>G (p.Ile132Val)
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NM_000430.4(PAFAH1B1):c.395T>C (p.Ile132Thr)
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NM_000430.4(PAFAH1B1):c.416C>G (p.Thr139Ser)
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NM_000430.4(PAFAH1B1):c.419G>C (p.Gly140Ala)
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NM_000430.4(PAFAH1B1):c.421G>A (p.Asp141Asn)
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rs1555526698
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NM_000430.4(PAFAH1B1):c.422A>G (p.Asp141Gly)
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rs1226589466
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NM_000430.4(PAFAH1B1):c.431G>C (p.Arg144Pro)
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rs2151663968
|
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NM_000430.4(PAFAH1B1):c.449C>A (p.Thr150Lys)
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NM_000430.4(PAFAH1B1):c.449C>T (p.Thr150Ile)
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rs1174082142
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NM_000430.4(PAFAH1B1):c.470C>T (p.Ser157Leu)
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rs2069162720
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NM_000430.4(PAFAH1B1):c.475G>A (p.Asp159Asn)
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rs753583241
|
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NM_000430.4(PAFAH1B1):c.481A>G (p.Ser161Gly)
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NM_000430.4(PAFAH1B1):c.484G>T (p.Gly162Cys)
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NM_000430.4(PAFAH1B1):c.490C>T (p.Leu164Phe)
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NM_000430.4(PAFAH1B1):c.518C>G (p.Thr173Ser)
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rs2151664089
|
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NM_000430.4(PAFAH1B1):c.553A>C (p.Ile185Leu)
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NM_000430.4(PAFAH1B1):c.562A>G (p.Met188Val)
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NM_000430.4(PAFAH1B1):c.563T>C (p.Met188Thr)
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rs1478372648
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NM_000430.4(PAFAH1B1):c.568+4del
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NM_000430.4(PAFAH1B1):c.568+6G>A
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NM_000430.4(PAFAH1B1):c.569-13_569-12insACACATAATA
|
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NM_000430.4(PAFAH1B1):c.569-9G>A
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rs2069199944
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NM_000430.4(PAFAH1B1):c.569G>C (p.Gly190Ala)
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|
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NM_000430.4(PAFAH1B1):c.581A>G (p.Asn194Ser)
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|
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NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser)
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rs975702095
|
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NM_000430.4(PAFAH1B1):c.592_597dup (p.Val198_Ala199dup)
|
rs2151666355
|
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NM_000430.4(PAFAH1B1):c.594A>G (p.Val198=)
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NM_000430.4(PAFAH1B1):c.598A>G (p.Ile200Val)
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NM_000430.4(PAFAH1B1):c.599T>C (p.Ile200Thr)
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NM_000430.4(PAFAH1B1):c.603G>T (p.Met201Ile)
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NM_000430.4(PAFAH1B1):c.620T>C (p.Ile207Thr)
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NM_000430.4(PAFAH1B1):c.623T>C (p.Val208Ala)
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rs2069200486
|
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NM_000430.4(PAFAH1B1):c.628G>T (p.Ala210Ser)
|
rs2151666389
|
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NM_000430.4(PAFAH1B1):c.629C>A (p.Ala210Asp)
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|
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NM_000430.4(PAFAH1B1):c.635G>A (p.Arg212Lys)
|
rs2151666403
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NM_000430.4(PAFAH1B1):c.650A>T (p.Lys217Ile)
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NM_000430.4(PAFAH1B1):c.655T>G (p.Trp219Gly)
|
rs2069200834
|
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NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)
|
rs1262666760
|
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NM_000430.4(PAFAH1B1):c.672-12_672-9del
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NM_000430.4(PAFAH1B1):c.684G>T (p.Lys228Asn)
|
rs1567559660
|
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NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=)
|
rs587784283
|
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NM_000430.4(PAFAH1B1):c.715A>T (p.Met239Leu)
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NM_000430.4(PAFAH1B1):c.721C>T (p.Arg241Trp)
|
rs906198937
|
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NM_000430.4(PAFAH1B1):c.722G>A (p.Arg241Gln)
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rs121434488
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NM_000430.4(PAFAH1B1):c.743T>C (p.Leu248Pro)
|
rs2069227815
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NM_000430.4(PAFAH1B1):c.748G>A (p.Ala250Thr)
|
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NM_000430.4(PAFAH1B1):c.769A>G (p.Thr257Ala)
|
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NM_000430.4(PAFAH1B1):c.841T>G (p.Cys281Gly)
|
rs587784288
|
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NM_000430.4(PAFAH1B1):c.889A>G (p.Thr297Ala)
|
rs778412717
|
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NM_000430.4(PAFAH1B1):c.892G>C (p.Gly298Arg)
|
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NM_000430.4(PAFAH1B1):c.895T>A (p.Ser299Thr)
|
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NM_000430.4(PAFAH1B1):c.900+11dup
|
rs886052713
|
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NM_000430.4(PAFAH1B1):c.900+5T>C
|
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NM_000430.4(PAFAH1B1):c.900+6G>A
|
rs200211261
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NM_000430.4(PAFAH1B1):c.914G>A (p.Gly305Asp)
|
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NM_000430.4(PAFAH1B1):c.936G>C (p.Leu312=)
|
rs2069270710
|
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NM_000430.4(PAFAH1B1):c.941G>T (p.Gly314Val)
|
rs1597577296
|
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NM_000430.4(PAFAH1B1):c.955A>G (p.Thr319Ala)
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NM_000430.4(PAFAH1B1):c.95A>G (p.Lys32Arg)
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NM_000430.4(PAFAH1B1):c.966G>A (p.Met322Ile)
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NM_000430.4(PAFAH1B1):c.973G>A (p.Val325Ile)
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rs2151670017
|
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