ClinVar Miner

List of variants in gene PCNT

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 628
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HGVS dbSNP
GRCh37/hg19 21q22.3(chr21:47801930-47810736)x0
GRCh37/hg19 21q22.3(chr21:47801930-47811272)x0
GRCh37/hg19 21q22.3(chr21:47818298-47851753)x3
GRCh37/hg19 21q22.3(chr21:47821583-47841941)x3
GRCh37/hg19 21q22.3(chr21:47821588-47860054)x3
GRCh37/hg19 21q22.3(chr21:47821619-47848503)x3
GRCh37/hg19 21q22.3(chr21:47822397-47848503)x3
GRCh37/hg19 21q22.3(chr21:47831217-47832881)x3
GRCh37/hg19 21q22.3(chr21:47848445-47856021)x1
GRCh37/hg19 21q22.3(chr21:47848445-47858248)x1
NC_000021.9:g.46366534T>A
NC_000021.9:g.46436193C>A
NC_000021.9:g.46438359T>C
NM_006031.5(PCNT):c.-100delG rs397802954
NM_006031.5(PCNT):c.-100dupG rs397802954
NM_006031.5(PCNT):c.-75G>A rs747401688
NM_006031.6(PCNT):c.*101T>G rs138450666
NM_006031.6(PCNT):c.*22del rs777390900
NM_006031.6(PCNT):c.*307A>G rs879391669
NM_006031.6(PCNT):c.*343_*346del rs145379994
NM_006031.6(PCNT):c.*391_*396del rs377311069
NM_006031.6(PCNT):c.*421A>G rs886057198
NM_006031.6(PCNT):c.-15C>G
NM_006031.6(PCNT):c.-16G>T rs138595914
NM_006031.6(PCNT):c.-25G>C rs202239640
NM_006031.6(PCNT):c.-35T>A rs886057177
NM_006031.6(PCNT):c.10007A>G (p.Gln3336Arg) rs794727685
NM_006031.6(PCNT):c.1032+1G>A rs1569178877
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001
NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys) rs777707751
NM_006031.6(PCNT):c.1107T>C (p.His369=) rs113731555
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231
NM_006031.6(PCNT):c.1207+34A>T rs35210219
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile) rs745322520
NM_006031.6(PCNT):c.1224G>A (p.Leu408=) rs797045874
NM_006031.6(PCNT):c.1236T>C (p.His412=) rs769637090
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458
NM_006031.6(PCNT):c.1335A>G (p.Lys445=) rs771882821
NM_006031.6(PCNT):c.1345-287C>T
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583
NM_006031.6(PCNT):c.1380G>A (p.Lys460=) rs1555953192
NM_006031.6(PCNT):c.138C>T (p.Val46=) rs762863150
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys) rs1555953206
NM_006031.6(PCNT):c.139G>C (p.Asp47His) rs112837071
NM_006031.6(PCNT):c.142G>C (p.Ala48Pro) rs373411902
NM_006031.6(PCNT):c.1457-5T>A rs769237607
NM_006031.6(PCNT):c.1457-9dup rs1486232846
NM_006031.6(PCNT):c.1463A>G (p.His488Arg) rs201966670
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) rs199864153
NM_006031.6(PCNT):c.1489C>A (p.Arg497Ser) rs371251124
NM_006031.6(PCNT):c.1507C>T (p.Gln503Ter) rs1555954069
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) rs138036524
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) rs767430243
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) rs2249060
NM_006031.6(PCNT):c.1640G>A (p.Gly547Glu) rs1057522262
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) rs761540486
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) rs797045875
NM_006031.6(PCNT):c.1743C>T (p.Leu581=) rs375581809
NM_006031.6(PCNT):c.1754G>A (p.Arg585Gln) rs769615384
NM_006031.6(PCNT):c.175G>A (p.Glu59Lys) rs797045876
NM_006031.6(PCNT):c.1761+14C>T rs368329088
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464
NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser) rs371296160
NM_006031.6(PCNT):c.1825G>C (p.Glu609Gln) rs529457692
NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter) rs777830265
NM_006031.6(PCNT):c.1849G>C (p.Glu617Gln) rs747165033
NM_006031.6(PCNT):c.1885_1886delinsAA (p.Ser629Lys) rs1555955867
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
NM_006031.6(PCNT):c.1937-161G>A
NM_006031.6(PCNT):c.1937-183G>A
NM_006031.6(PCNT):c.1937-44G>A rs17297961
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu) rs756261885
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) rs1555956600
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp) rs768518510
NM_006031.6(PCNT):c.2019G>A (p.Leu673=) rs868039816
NM_006031.6(PCNT):c.202G>C (p.Asp68His) rs1216804302
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr) rs886057179
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223
NM_006031.6(PCNT):c.2154+116A>G
NM_006031.6(PCNT):c.2154+7C>T rs376236418
NM_006031.6(PCNT):c.2154+8G>A rs778407564
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.2167C>G (p.Leu723Val) rs483352730
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) rs202246527
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe) rs375312732
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg) rs201827977
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006031.6(PCNT):c.2415C>G (p.Ala805=) rs61407822
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met) rs201895762
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys) rs369586175
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.247G>C (p.Gly83Arg) rs886042361
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg) rs776223654
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710
NM_006031.6(PCNT):c.2609+211T>C
NM_006031.6(PCNT):c.2610-50T>A rs9637173
NM_006031.6(PCNT):c.2610-50T>G
NM_006031.6(PCNT):c.2610-5C>T rs2839226
NM_006031.6(PCNT):c.2610-8T>C rs377164652
NM_006031.6(PCNT):c.2628A>G (p.Lys876=) rs758820636
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly) rs771897801
NM_006031.6(PCNT):c.267+163G>A
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr) rs776133593
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246
NM_006031.6(PCNT):c.2724C>G (p.His908Gln) rs746750267
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) rs869312917
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln) rs577883327
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856
NM_006031.6(PCNT):c.2834G>A (p.Arg945His) rs183691508
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn) rs146728385
NM_006031.6(PCNT):c.2899A>G (p.Ser967Gly) rs145451194
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228
NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys)
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.2991T>C (p.Phe997=) rs767625587
NM_006031.6(PCNT):c.3038C>T (p.Thr1013Ile) rs777758638
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) rs138361417
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=) rs182694054
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289
NM_006031.6(PCNT):c.3166-2A>C rs774553297
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg) rs886057180
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu) rs587784303
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His) rs78484478
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805
NM_006031.6(PCNT):c.336T>C (p.His112=) rs59157477
NM_006031.6(PCNT):c.3389G>A (p.Arg1130Gln) rs140003788
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) rs200148867
NM_006031.6(PCNT):c.339T>A (p.Pro113=) rs59662841
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=) rs143490174
NM_006031.6(PCNT):c.3411C>G (p.Gly1137=) rs375993930
NM_006031.6(PCNT):c.3418_3420CTC[1] (p.Leu1141del) rs759470656
NM_006031.6(PCNT):c.3423C>T (p.Leu1141=) rs113763153
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) rs201652457
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly) rs140424584
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3464+4A>T rs1555971930
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys) rs886057181
NM_006031.6(PCNT):c.3465-1G>A rs755084205
NM_006031.6(PCNT):c.3465-40C>T rs7279052
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro) rs778900170
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204
NM_006031.6(PCNT):c.3532A>G (p.Thr1178Ala) rs1389951479
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg) rs752738005
NM_006031.6(PCNT):c.3553G>A (p.Glu1185Lys) rs920374957
NM_006031.6(PCNT):c.3564G>T (p.Gly1188=) rs1555973364
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=) rs370240856
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806
NM_006031.6(PCNT):c.362_365CAGT[1] (p.Ser123fs) rs1569162602
NM_006031.6(PCNT):c.363A>C (p.Thr121=) rs150766997
NM_006031.6(PCNT):c.3647C>T (p.Pro1216Leu) rs200670500
NM_006031.6(PCNT):c.3648G>A (p.Pro1216=) rs756724097
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val) rs886057182
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile) rs886057183
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His) rs201315836
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln)
NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter) rs1555973872
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) rs886057184
NM_006031.6(PCNT):c.3798C>T (p.Ala1266=) rs769080650
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala) rs139106698
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) rs1569239749
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136
NM_006031.6(PCNT):c.3924G>A (p.Lys1308=) rs139543323
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) rs34012939
NM_006031.6(PCNT):c.4001A>C (p.Gln1334Pro) rs1318648644
NM_006031.6(PCNT):c.405C>T (p.Val135=) rs371917839
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342
NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter) rs1555974965
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) rs201139850
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val) rs114383833
NM_006031.6(PCNT):c.4143G>A (p.Ala1381=) rs111697920
NM_006031.6(PCNT):c.4163G>A (p.Arg1388His) rs775895650
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438
NM_006031.6(PCNT):c.4216+9C>T rs369876466
NM_006031.6(PCNT):c.4217-226G>A
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) rs199661615
NM_006031.6(PCNT):c.4230A>G (p.Glu1410=) rs774962506
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.4311G>T (p.Lys1437Asn) rs765190339
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) rs200606073
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569
NM_006031.6(PCNT):c.4356G>T (p.Gly1452=) rs776946965
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) rs1569249386
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile) rs766688176
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) rs193261408
NM_006031.6(PCNT):c.442G>T (p.Val148Phe) rs201815546
NM_006031.6(PCNT):c.442_519del (p.Val148_Thr173del) rs1555945478
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) rs61735807
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp) rs549834885
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4518C>G (p.Leu1506=) rs954455553
NM_006031.6(PCNT):c.4552C>T (p.Arg1518Cys) rs763712724
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn) rs762126145
NM_006031.6(PCNT):c.4563+9G>A rs750949882
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741
NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn) rs886042852
NM_006031.6(PCNT):c.4584+129T>C
NM_006031.6(PCNT):c.4584+9G>T rs202096874
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn) rs775413533
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=) rs587784305
NM_006031.6(PCNT):c.4625A>C (p.Glu1542Ala) rs797045877
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.467_583dup (p.His156_Gln194dup) rs1555945598
NM_006031.6(PCNT):c.4687G>C (p.Glu1563Gln) rs746297554
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg) rs1555945637
NM_006031.6(PCNT):c.4702G>T (p.Glu1568Ter) rs1217566598
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup) rs886042352
NM_006031.6(PCNT):c.4835T>C (p.Leu1612Pro) rs1296500904
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly) rs755909353
NM_006031.6(PCNT):c.4863T>G (p.Asp1621Glu)
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val) rs6518291
NM_006031.6(PCNT):c.4929G>C (p.Val1643=) rs569351854
NM_006031.6(PCNT):c.4934_4935AG[2] (p.Arg1646fs) rs797045879
NM_006031.6(PCNT):c.4946T>C (p.Leu1649Pro) rs149214680
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=) rs760142269
NM_006031.6(PCNT):c.4962+10G>A rs114474454
NM_006031.6(PCNT):c.4962+91G>A
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824
NM_006031.6(PCNT):c.49A>G (p.Thr17Ala) rs1055522433
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr) rs140290722
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823
NM_006031.6(PCNT):c.5073T>C (p.Ala1691=) rs570456724
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5115+11A>G rs371474470
NM_006031.6(PCNT):c.5115+147C>T
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=) rs141860893
NM_006031.6(PCNT):c.5116-260T>C
NM_006031.6(PCNT):c.513G>C (p.Met171Ile) rs142422937
NM_006031.6(PCNT):c.5155G>A (p.Ala1719Thr) rs1290537073
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly) rs1555984919
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln) rs114799541
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=) rs886057185
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=) rs58559714
NM_006031.6(PCNT):c.5323C>G (p.Leu1775Val) rs147409139
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg)
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter) rs199566483
NM_006031.6(PCNT):c.54+6C>T rs80017051
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp) rs759289691
NM_006031.6(PCNT):c.5411G>A (p.Arg1804Gln)
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.55-5C>T rs587784310
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=) rs61735543
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) rs142080697
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) rs373238616
NM_006031.6(PCNT):c.5583G>A (p.Ala1861=) rs770667557
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met) rs775982969
NM_006031.6(PCNT):c.5607G>A (p.Thr1869=) rs763347923
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) rs16979162
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) rs61735811
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) rs1352792544
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln) rs770575971
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) rs761816773
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile) rs113208348
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His) rs201536644
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) rs548190846
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr) rs200426591
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu) rs781468861
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.5736C>T (p.Ala1912=) rs766460016
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val) rs748285536
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810
NM_006031.6(PCNT):c.5756T>C (p.Leu1919Pro) rs755667206
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His) rs776640595
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5803G>C (p.Val1935Leu) rs774248299
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) rs536281306
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp) rs189308172
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667
NM_006031.6(PCNT):c.591C>G (p.Ile197Met) rs559031201
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) rs374300652
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162
NM_006031.6(PCNT):c.5994+38T>C rs73907502
NM_006031.6(PCNT):c.5994+48T>G rs73379348
NM_006031.6(PCNT):c.5994+4G>A rs781737632
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) rs143671774
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) rs138543824
NM_006031.6(PCNT):c.6096G>A (p.Ser2032=) rs370040791
NM_006031.6(PCNT):c.6100C>T (p.Leu2034=) rs1346863140
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=) rs144445891
NM_006031.6(PCNT):c.6150+10G>C rs886057186
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6150+147C>T
NM_006031.6(PCNT):c.6150+150A>C
NM_006031.6(PCNT):c.6150+30C>A rs13046462
NM_006031.6(PCNT):c.6150+3G>A rs760779996
NM_006031.6(PCNT):c.6150+49C>T rs112334245
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) rs778391726
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=) rs181127717
NM_006031.6(PCNT):c.6276C>T (p.Ala2092=) rs755726044
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn) rs200303861
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) rs2839245
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser) rs371054707
NM_006031.6(PCNT):c.6348C>T (p.Asp2116=) rs144430478
NM_006031.6(PCNT):c.6349G>A (p.Gly2117Arg) rs749897159
NM_006031.6(PCNT):c.6364_6365AT[1] (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) rs35978208
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser) rs886057187
NM_006031.6(PCNT):c.640-38T>G rs2839216
NM_006031.6(PCNT):c.640-8T>G rs587784314
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) rs1173590566
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile) rs886057188
NM_006031.6(PCNT):c.6447G>A (p.Ala2149=) rs763122571
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) rs886057189
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg) rs1044998
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu) rs368565898
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=) rs372022297
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro) rs369420036
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=) rs57108405
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) rs769183047
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) rs201503338
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=) rs144342729
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) rs527590016
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=) rs755119869
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) rs35346764
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn) rs142402562
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) rs61735812
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly) rs886057190
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr) rs771286324
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) rs375741970
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=) rs532762118
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) rs770226991
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) rs61738290
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA rs59957960
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=) rs2839246
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu) rs747212974
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602
NM_006031.6(PCNT):c.6991G>A (p.Gly2331Arg) rs775387368
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) rs138506849
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser) rs150704986
NM_006031.6(PCNT):c.7059G>A (p.Pro2353=) rs149413536
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val) rs144775948
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) rs61735815
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg) rs7277175
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) rs1555993038
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419
NM_006031.6(PCNT):c.7162C>T (p.Arg2388Cys) rs201562329
NM_006031.6(PCNT):c.7179+18G>A rs370492724
NM_006031.6(PCNT):c.7180-41G>T rs8128866
NM_006031.6(PCNT):c.7180-7G>A rs201549624
NM_006031.6(PCNT):c.7180-8C>T rs143511166
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741
NM_006031.6(PCNT):c.720+110A>C
NM_006031.6(PCNT):c.720+17T>C rs9982233
NM_006031.6(PCNT):c.720+32C>T rs114224027
NM_006031.6(PCNT):c.721-13T>G rs748762743
NM_006031.6(PCNT):c.721-5C>T rs144683591
NM_006031.6(PCNT):c.721-7G>A rs2839217
NM_006031.6(PCNT):c.721-7G>T rs2839217
NM_006031.6(PCNT):c.724G>A (p.Val242Met) rs147931950
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=) rs138588682
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys) rs778163048
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323
NM_006031.6(PCNT):c.7321-10C>T rs587784318
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711
NM_006031.6(PCNT):c.7342G>A (p.Asp2448Asn) rs748347210
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=) rs61735816
NM_006031.6(PCNT):c.7354G>T (p.Asp2452Tyr) rs1006896204
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=) rs114739559
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=) rs191561981
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln) rs149779006
NM_006031.6(PCNT):c.7454G>T (p.Ser2485Ile) rs797045880
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) rs572321857
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) rs61735817
NM_006031.6(PCNT):c.7494+143T>C
NM_006031.6(PCNT):c.7494+48G>A rs55937012
NM_006031.6(PCNT):c.7495-13A>G rs114588443
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=) rs61735818
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln) rs370021414
NM_006031.6(PCNT):c.7574G>A (p.Arg2525His) rs940897400
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=) rs372531708
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val) rs150303409
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=) rs369949793
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) rs2839256
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly) rs751345838
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) rs1555999948
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter) rs749426946
NM_006031.6(PCNT):c.7833C>T (p.Ser2611=) rs139227909
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) rs61735821
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln) rs8131693
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly) rs886057178
NM_006031.6(PCNT):c.7913+32C>T rs57385578
NM_006031.6(PCNT):c.7913+40C>T rs1023161
NM_006031.6(PCNT):c.7913+4C>T rs376736200
NM_006031.6(PCNT):c.7913+9G>C rs1023160
NM_006031.6(PCNT):c.7914-16C>T rs2839257
NM_006031.6(PCNT):c.7914-4G>A rs76287849
NM_006031.6(PCNT):c.7914-5C>T rs114120845
NM_006031.6(PCNT):c.7966G>C (p.Glu2656Gln)
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His) rs778334017
NM_006031.6(PCNT):c.8028C>T (p.His2676=) rs886057191
NM_006031.6(PCNT):c.8065-19G>A rs78561636
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=) rs756904669
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met) rs780988556
NM_006031.6(PCNT):c.8128C>T (p.His2710Tyr) rs987345147
NM_006031.6(PCNT):c.8130C>T (p.His2710=) rs373738288
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) rs761885630
NM_006031.6(PCNT):c.8365G>A (p.Ala2789Thr) rs753073203
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) rs146792192
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522
NM_006031.6(PCNT):c.8528T>G (p.Leu2843Arg) rs569737144
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) rs568559091
NM_006031.6(PCNT):c.8569C>T (p.Leu2857=) rs375869631
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=) rs774517427
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795
NM_006031.6(PCNT):c.8659G>A (p.Gly2887Arg) rs797045881
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val) rs144963695
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998
NM_006031.6(PCNT):c.8707G>C (p.Ala2903Pro) rs35147998
NM_006031.6(PCNT):c.874C>G (p.Leu292Val) rs762961416
NM_006031.6(PCNT):c.8752-308G>A
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064
NM_006031.6(PCNT):c.8786A>C (p.His2929Pro) rs1556003819
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795
NM_006031.6(PCNT):c.8814_8815GA[2] (p.Asp2940fs) rs1214290914
NM_006031.6(PCNT):c.8820C>A (p.Asp2940Glu) rs797045882
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) rs587784320
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln) rs747159043
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) rs372356069
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys) rs376696104
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) rs201877661
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala) rs375035745
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826
NM_006031.6(PCNT):c.8989G>A (p.Val2997Met) rs781469305
NM_006031.6(PCNT):c.8996+45C>A rs2236616
NM_006031.6(PCNT):c.8996+5G>A rs886057193
NM_006031.6(PCNT):c.8997G>A (p.Arg2999=) rs1288558445
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463
NM_006031.6(PCNT):c.9028A>G (p.Lys3010Glu) rs797045883
NM_006031.6(PCNT):c.9035T>C (p.Val3012Ala) rs557745291
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys) rs186701249
NM_006031.6(PCNT):c.9051C>G (p.His3017Gln) rs1556004960
NM_006031.6(PCNT):c.9099+14G>A rs370266308
NM_006031.6(PCNT):c.9099+8G>T rs369178196
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg) rs747647379
NM_006031.6(PCNT):c.9146T>C (p.Leu3049Pro) rs794727667
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser) rs779546932
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile) rs754586558
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) rs1569308924
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly) rs886057194
NM_006031.6(PCNT):c.9217G>A (p.Val3073Met) rs371058544
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr) rs143289533
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842
NM_006031.6(PCNT):c.9273+22T>C rs2051190
NM_006031.6(PCNT):c.9274-3C>T rs200348425
NM_006031.6(PCNT):c.9274-58dup
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265
NM_006031.6(PCNT):c.9293G>T (p.Trp3098Leu) rs797045884
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys) rs775636867
NM_006031.6(PCNT):c.930C>T (p.His310=) rs778056605
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys) rs1007600831
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His) rs140416280
NM_006031.6(PCNT):c.9334C>T (p.Pro3112Ser) rs534490490
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735
NM_006031.6(PCNT):c.9352C>A (p.Pro3118Thr) rs1057520975
NM_006031.6(PCNT):c.9393+102C>T
NM_006031.6(PCNT):c.9393+8C>T rs750108017
NM_006031.6(PCNT):c.9394-4T>C rs2839260
NM_006031.6(PCNT):c.9409C>G (p.Leu3137Val) rs1556007750
NM_006031.6(PCNT):c.947A>T (p.Glu316Val) rs201194745
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg) rs372024492
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) rs143776463
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) rs149844283
NM_006031.6(PCNT):c.9618A>G (p.Ile3206Met) rs372895276
NM_006031.6(PCNT):c.9623+8C>T rs75758339
NM_006031.6(PCNT):c.9624-190C>T
NM_006031.6(PCNT):c.9624-222T>C
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566
NM_006031.6(PCNT):c.9700+10C>T rs199917135
NM_006031.6(PCNT):c.9700+138A>G
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr) rs202170105
NM_006031.6(PCNT):c.9840-15G>C rs564095021
NM_006031.6(PCNT):c.9840-4G>A rs199857861
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=) rs142800774
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser) rs199737174
NM_006031.6(PCNT):c.9871A>G (p.Arg3291Gly) rs147637351
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro) rs752708321
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=) rs111389121
NM_006031.6(PCNT):c.9967+18C>T rs369414311
NM_006031.6(PCNT):c.9967+79C>T
NM_006031.6(PCNT):c.9967+89G>C
NM_006031.6(PCNT):c.9968-3C>T rs182378192
PCNT, 1-BP INS, 1527A
PCNT, 1-BP INS, 841G
PCNT, 3-BP DEL, 9460AAG
PCNT, 486-BP DEL, NT84

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