ClinVar Miner

List of variants in gene PIGN reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 538
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.1575-69C>A rs75966177 0.02626
NM_176787.5(PIGN):c.922+75A>G rs75981034 0.02609
NM_176787.5(PIGN):c.2619+14G>A rs141117706 0.01868
NM_176787.5(PIGN):c.2077+63T>G rs17069450 0.01858
NM_176787.5(PIGN):c.2576+134T>C rs17069423 0.01856
NM_176787.5(PIGN):c.2180+66T>G rs183764005 0.01242
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_176787.5(PIGN):c.2078-173G>A rs141900505 0.01032
NM_176787.5(PIGN):c.1024-137A>T rs79536567 0.01026
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_176787.5(PIGN):c.2427-239G>A rs143393107 0.00837
NM_176787.5(PIGN):c.1023+253A>G rs141833143 0.00772
NM_176787.5(PIGN):c.2619+156del rs548971134 0.00756
NM_176787.5(PIGN):c.*125A>G rs112427873 0.00639
NM_176787.5(PIGN):c.2077+313T>G rs113559618 0.00639
NM_176787.5(PIGN):c.1251+11C>T rs141918272 0.00571
NM_176787.5(PIGN):c.2619+46G>T rs115052876 0.00518
NM_176787.5(PIGN):c.1768-246T>C rs147384293 0.00513
NM_176787.5(PIGN):c.443-247C>T rs139331743 0.00494
NM_176787.5(PIGN):c.2503-305T>C rs146680924 0.00394
NM_176787.5(PIGN):c.1575-91T>G rs142477355 0.00389
NM_176787.5(PIGN):c.805+172del rs201036226 0.00376
NM_176787.5(PIGN):c.964-20T>C rs148402610 0.00373
NM_176787.5(PIGN):c.2077+54A>T rs373631945 0.00357
NM_176787.5(PIGN):c.528G>A (p.Thr176=) rs144304758 0.00291
NM_176787.5(PIGN):c.550-250G>A rs114340879 0.00285
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00282
NM_176787.5(PIGN):c.1575-50C>G rs115925144 0.00273
NM_176787.5(PIGN):c.2673-113C>T rs147271638 0.00266
NM_176787.5(PIGN):c.2426+49A>G rs377425383 0.00228
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
NM_176787.5(PIGN):c.2181-38T>C rs189259151 0.00171
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met) rs200658159 0.00117
NM_176787.5(PIGN):c.2783G>A (p.Ser928Asn) rs201397391 0.00113
NM_176787.5(PIGN):c.549+58G>A rs184895764 0.00099
NM_176787.5(PIGN):c.2412A>G (p.Ile804Met) rs201902492 0.00072
NM_176787.5(PIGN):c.1860G>A (p.Val620=) rs374172871 0.00064
NM_176787.5(PIGN):c.2411T>A (p.Ile804Lys) rs199672087 0.00054
NM_176787.5(PIGN):c.2022A>G (p.Leu674=) rs3764491 0.00049
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_176787.5(PIGN):c.471T>C (p.Tyr157=) rs188661327 0.00029
NM_176787.5(PIGN):c.1749G>A (p.Arg583=) rs200401462 0.00025
NM_176787.5(PIGN):c.396C>T (p.Tyr132=) rs372618443 0.00025
NM_176787.5(PIGN):c.1404C>T (p.Asn468=) rs201927476 0.00021
NM_176787.5(PIGN):c.1707C>T (p.Thr569=) rs375845698 0.00019
NM_176787.5(PIGN):c.2580T>A (p.Leu860=) rs199959895 0.00019
NM_176787.5(PIGN):c.459C>T (p.His153=) rs376615257 0.00019
NM_176787.5(PIGN):c.253A>G (p.Ile85Val) rs202066215 0.00018
NM_176787.5(PIGN):c.2013G>A (p.Gln671=) rs536963290 0.00017
NM_176787.5(PIGN):c.2101C>T (p.Leu701=) rs772075726 0.00016
NM_176787.5(PIGN):c.213G>A (p.Pro71=) rs370553142 0.00014
NM_176787.5(PIGN):c.2283+12A>G rs371051360 0.00014
NM_176787.5(PIGN):c.1428A>T (p.Glu476Asp) rs182470608 0.00013
NM_176787.5(PIGN):c.1860-12A>G rs376234332 0.00012
NM_176787.5(PIGN):c.1992G>A (p.Met664Ile) rs564513512 0.00011
NM_176787.5(PIGN):c.222-13T>C rs368463411 0.00011
NM_176787.5(PIGN):c.2448T>C (p.Tyr816=) rs368921294 0.00010
NM_176787.5(PIGN):c.51C>T (p.Ala17=) rs370228697 0.00010
NM_176787.5(PIGN):c.931T>C (p.Leu311=) rs369242084 0.00009
NM_176787.5(PIGN):c.1102C>T (p.Leu368Phe) rs142508030 0.00008
NM_176787.5(PIGN):c.1251+12G>A rs1250760771 0.00007
NM_176787.5(PIGN):c.1398T>C (p.His466=) rs61755361 0.00007
NM_176787.5(PIGN):c.1396C>T (p.His466Tyr) rs149709766 0.00006
NM_176787.5(PIGN):c.1530A>G (p.Val510=) rs373958969 0.00006
NM_176787.5(PIGN):c.1675-8A>G rs369093643 0.00006
NM_176787.5(PIGN):c.2724C>T (p.Leu908=) rs756612484 0.00006
NM_176787.5(PIGN):c.1117-5C>T rs747229315 0.00005
NM_176787.5(PIGN):c.1333G>A (p.Val445Ile) rs187036839 0.00005
NM_176787.5(PIGN):c.1212A>G (p.Lys404=) rs573354206 0.00004
NM_176787.5(PIGN):c.1251+7A>G rs775042896 0.00004
NM_176787.5(PIGN):c.1728A>G (p.Ala576=) rs753758318 0.00004
NM_176787.5(PIGN):c.1969-19A>G rs773187644 0.00004
NM_176787.5(PIGN):c.2124G>A (p.Gln708=) rs768321430 0.00004
NM_176787.5(PIGN):c.2202A>C (p.Leu734=) rs372339870 0.00004
NM_176787.5(PIGN):c.922+9A>G rs753295521 0.00004
NM_176787.5(PIGN):c.1371T>C (p.Tyr457=) rs761856805 0.00003
NM_176787.5(PIGN):c.1614C>G (p.Thr538=) rs1461542784 0.00003
NM_176787.5(PIGN):c.1827G>A (p.Pro609=) rs750102703 0.00003
NM_176787.5(PIGN):c.1926A>G (p.Lys642=) rs760848888 0.00003
NM_176787.5(PIGN):c.2457G>T (p.Leu819=) rs1007645231 0.00003
NM_176787.5(PIGN):c.2559T>A (p.Thr853=) rs745403848 0.00003
NM_176787.5(PIGN):c.468A>G (p.Thr156=) rs1449290330 0.00003
NM_176787.5(PIGN):c.648C>T (p.Asn216=) rs369098270 0.00003
NM_176787.5(PIGN):c.723C>T (p.Ile241=) rs541513176 0.00003
NM_176787.5(PIGN):c.1117-8G>T rs1352211280 0.00002
NM_176787.5(PIGN):c.1332C>T (p.Gly444=) rs757220424 0.00002
NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu) rs375746864 0.00002
NM_176787.5(PIGN):c.1659G>C (p.Leu553=) rs776077870 0.00002
NM_176787.5(PIGN):c.1674+8A>G rs935338281 0.00002
NM_176787.5(PIGN):c.1932C>T (p.Ser644=) rs972582573 0.00002
NM_176787.5(PIGN):c.1951T>C (p.Leu651=) rs779693213 0.00002
NM_176787.5(PIGN):c.2040G>A (p.Leu680=) rs774381597 0.00002
NM_176787.5(PIGN):c.2078-17G>A rs181210700 0.00002
NM_176787.5(PIGN):c.2241A>G (p.Glu747=) rs1323193172 0.00002
NM_176787.5(PIGN):c.2427-10A>G rs565774956 0.00002
NM_176787.5(PIGN):c.2595C>T (p.Leu865=) rs775357090 0.00002
NM_176787.5(PIGN):c.2673-16T>G rs1473457282 0.00002
NM_176787.5(PIGN):c.48C>T (p.Phe16=) rs148669516 0.00002
NM_176787.5(PIGN):c.1005C>T (p.Pro335=) rs766427204 0.00001
NM_176787.5(PIGN):c.1024-16T>C rs1260057906 0.00001
NM_176787.5(PIGN):c.1050C>T (p.Asn350=) rs749767509 0.00001
NM_176787.5(PIGN):c.1117-20T>C rs1307177278 0.00001
NM_176787.5(PIGN):c.1207A>C (p.Arg403=) rs755903091 0.00001
NM_176787.5(PIGN):c.1252-17A>G rs567772966 0.00001
NM_176787.5(PIGN):c.1254C>G (p.Val418=) rs747045046 0.00001
NM_176787.5(PIGN):c.129G>A (p.Ala43=) rs776573483 0.00001
NM_176787.5(PIGN):c.1356G>A (p.Val452=) rs754184885 0.00001
NM_176787.5(PIGN):c.1419T>C (p.Val473=) rs2034945773 0.00001
NM_176787.5(PIGN):c.147T>C (p.Phe49=) rs1246376426 0.00001
NM_176787.5(PIGN):c.1680C>G (p.Leu560=) rs774775954 0.00001
NM_176787.5(PIGN):c.1803C>T (p.Leu601=) rs374316055 0.00001
NM_176787.5(PIGN):c.180C>T (p.Tyr60=) rs756876033 0.00001
NM_176787.5(PIGN):c.1818A>G (p.Pro606=) rs1395647898 0.00001
NM_176787.5(PIGN):c.2078-4G>T rs781730836 0.00001
NM_176787.5(PIGN):c.2078-7A>C rs371198368 0.00001
NM_176787.5(PIGN):c.2085C>T (p.Ser695=) rs144072873 0.00001
NM_176787.5(PIGN):c.2098C>T (p.Leu700=) rs766146498 0.00001
NM_176787.5(PIGN):c.2180+8C>T rs767264989 0.00001
NM_176787.5(PIGN):c.2337A>C (p.Leu779=) rs768724419 0.00001
NM_176787.5(PIGN):c.2415T>G (p.Ala805=) rs1294928387 0.00001
NM_176787.5(PIGN):c.2596G>A (p.Val866Ile) rs367627571 0.00001
NM_176787.5(PIGN):c.2672+10A>G rs371187651 0.00001
NM_176787.5(PIGN):c.2673-8T>G rs1162181132 0.00001
NM_176787.5(PIGN):c.2733G>C (p.Leu911=) rs771595900 0.00001
NM_176787.5(PIGN):c.375T>A (p.Ser125=) rs773864600 0.00001
NM_176787.5(PIGN):c.405C>T (p.Ser135=) rs1250542028 0.00001
NM_176787.5(PIGN):c.540T>C (p.Asp180=) rs1481216829 0.00001
NM_176787.5(PIGN):c.550-6A>G rs771290100 0.00001
NM_176787.5(PIGN):c.550-8A>G rs1326292784 0.00001
NM_176787.5(PIGN):c.552C>T (p.Asp184=) rs747526155 0.00001
NM_176787.5(PIGN):c.567C>T (p.Ala189=) rs1198516321 0.00001
NM_176787.5(PIGN):c.669C>T (p.Ser223=) rs1156885525 0.00001
NM_176787.5(PIGN):c.672G>A (p.Ser224=) rs781063151 0.00001
NM_176787.5(PIGN):c.681C>T (p.Tyr227=) rs773845640 0.00001
NM_176787.5(PIGN):c.691A>G (p.Ile231Val) rs1209362933 0.00001
NM_176787.5(PIGN):c.855T>C (p.Thr285=) rs1311950306 0.00001
NM_176787.5(PIGN):c.879C>G (p.Pro293=) rs750070239 0.00001
NM_176787.5(PIGN):c.882A>G (p.Gln294=) rs1376888820 0.00001
NM_176787.5(PIGN):c.923-9A>G rs1377389497 0.00001
NM_176787.5(PIGN):c.951A>G (p.Leu317=) rs1362423204 0.00001
NM_176787.5(PIGN):c.1017C>T (p.Asn339=)
NM_176787.5(PIGN):c.1023+19T>C
NM_176787.5(PIGN):c.1023+19T>G
NM_176787.5(PIGN):c.1024-10T>C
NM_176787.5(PIGN):c.1024-17G>A
NM_176787.5(PIGN):c.1024-8A>G rs2147147668
NM_176787.5(PIGN):c.1026A>T (p.Gly342=)
NM_176787.5(PIGN):c.1092A>G (p.Ala364=)
NM_176787.5(PIGN):c.1095A>G (p.Val365=) rs2147146783
NM_176787.5(PIGN):c.1116+11A>C
NM_176787.5(PIGN):c.1116+16A>C
NM_176787.5(PIGN):c.1116+9A>T
NM_176787.5(PIGN):c.1117-10T>C
NM_176787.5(PIGN):c.1117-15A>G
NM_176787.5(PIGN):c.1117-16C>T
NM_176787.5(PIGN):c.1117-18T>G
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_176787.5(PIGN):c.1117-6del
NM_176787.5(PIGN):c.111A>G (p.Thr37=) rs1323854040
NM_176787.5(PIGN):c.114A>C (p.Pro38=)
NM_176787.5(PIGN):c.114A>G (p.Pro38=)
NM_176787.5(PIGN):c.1167A>G (p.Pro389=) rs1599608604
NM_176787.5(PIGN):c.1172+147A>G rs75884724
NM_176787.5(PIGN):c.1176G>A (p.Leu392=)
NM_176787.5(PIGN):c.1194G>A (p.Gln398=) rs1261602194
NM_176787.5(PIGN):c.120T>A (p.Pro40=) rs1392559455
NM_176787.5(PIGN):c.1218A>G (p.Arg406=)
NM_176787.5(PIGN):c.1224T>C (p.Tyr408=)
NM_176787.5(PIGN):c.1233C>T (p.His411=)
NM_176787.5(PIGN):c.1251+11C>A
NM_176787.5(PIGN):c.1251+17T>G rs2146608826
NM_176787.5(PIGN):c.1251+185dup rs373385473
NM_176787.5(PIGN):c.1251+18A>G
NM_176787.5(PIGN):c.1251+19T>C
NM_176787.5(PIGN):c.1251+201del rs373385473
NM_176787.5(PIGN):c.1251+7A>C rs775042896
NM_176787.5(PIGN):c.1251+8_1251+9insTGTC rs1599554091
NM_176787.5(PIGN):c.1252-18T>C
NM_176787.5(PIGN):c.1252-19A>G
NM_176787.5(PIGN):c.1252-20T>C
NM_176787.5(PIGN):c.1252-21AT[2] rs765518631
NM_176787.5(PIGN):c.1252-8C>T
NM_176787.5(PIGN):c.1257C>T (p.Ser419=)
NM_176787.5(PIGN):c.1270C>T (p.Leu424=)
NM_176787.5(PIGN):c.1285T>C (p.Leu429=)
NM_176787.5(PIGN):c.1290A>G (p.Lys430=)
NM_176787.5(PIGN):c.1311A>G (p.Thr437=)
NM_176787.5(PIGN):c.1311A>T (p.Thr437=)
NM_176787.5(PIGN):c.1314T>C (p.Tyr438=)
NM_176787.5(PIGN):c.1353T>C (p.Phe451=) rs1283371531
NM_176787.5(PIGN):c.1359A>T (p.Gly453=) rs1263965977
NM_176787.5(PIGN):c.1374C>T (p.Ala458=) rs905642288
NM_176787.5(PIGN):c.1377T>G (p.Ser459=)
NM_176787.5(PIGN):c.1407T>C (p.Leu469=)
NM_176787.5(PIGN):c.1413A>G (p.Lys471=)
NM_176787.5(PIGN):c.1434+10G>T
NM_176787.5(PIGN):c.1434+11A>G rs2034944798
NM_176787.5(PIGN):c.1434+14A>G
NM_176787.5(PIGN):c.1435-13_1435-10del rs2034811943
NM_176787.5(PIGN):c.1443C>T (p.Ser481=)
NM_176787.5(PIGN):c.1473T>C (p.Ile491=)
NM_176787.5(PIGN):c.1485A>C (p.Val495=) rs1599543738
NM_176787.5(PIGN):c.1494T>C (p.Phe498=)
NM_176787.5(PIGN):c.1509C>T (p.Ala503=)
NM_176787.5(PIGN):c.1533T>C (p.Tyr511=)
NM_176787.5(PIGN):c.153T>C (p.Ala51=)
NM_176787.5(PIGN):c.1546C>T (p.Leu516=) rs558488682
NM_176787.5(PIGN):c.1563G>A (p.Ala521=)
NM_176787.5(PIGN):c.1563G>C (p.Ala521=)
NM_176787.5(PIGN):c.1574+10G>A rs2146503929
NM_176787.5(PIGN):c.1574+11C>A rs767210033
NM_176787.5(PIGN):c.1574+12A>T rs2034802626
NM_176787.5(PIGN):c.1574+13T>C
NM_176787.5(PIGN):c.1574+14C>G rs2146503622
NM_176787.5(PIGN):c.1574+18C>G
NM_176787.5(PIGN):c.1574+9T>C
NM_176787.5(PIGN):c.1575-11A>G
NM_176787.5(PIGN):c.1575-17C>G
NM_176787.5(PIGN):c.1575-23_1575-20del
NM_176787.5(PIGN):c.1581A>G (p.Gln527=)
NM_176787.5(PIGN):c.1593C>T (p.Asp531=)
NM_176787.5(PIGN):c.1599T>G (p.Val533=)
NM_176787.5(PIGN):c.159C>T (p.Gly53=)
NM_176787.5(PIGN):c.15T>C (p.Phe5=)
NM_176787.5(PIGN):c.1605A>C (p.Ser535=) rs755115652
NM_176787.5(PIGN):c.1609T>C (p.Leu537=)
NM_176787.5(PIGN):c.1632T>C (p.Phe544=)
NM_176787.5(PIGN):c.1635T>G (p.Val545=)
NM_176787.5(PIGN):c.1638G>A (p.Gly546=)
NM_176787.5(PIGN):c.1642C>T (p.Leu548=)
NM_176787.5(PIGN):c.1650C>G (p.Ala550=)
NM_176787.5(PIGN):c.1656C>G (p.Thr552=)
NM_176787.5(PIGN):c.1671A>G (p.Val557=)
NM_176787.5(PIGN):c.1674+11T>C
NM_176787.5(PIGN):c.1674+15A>G
NM_176787.5(PIGN):c.1674+9C>T
NM_176787.5(PIGN):c.1675-5A>G
NM_176787.5(PIGN):c.1675-9C>T
NM_176787.5(PIGN):c.1680C>T (p.Leu560=)
NM_176787.5(PIGN):c.168A>G (p.Ala56=)
NM_176787.5(PIGN):c.1716T>C (p.Leu572=)
NM_176787.5(PIGN):c.1719T>C (p.Thr573=) rs1320741139
NM_176787.5(PIGN):c.171T>C (p.Asp57=)
NM_176787.5(PIGN):c.1731T>G (p.Ala577=)
NM_176787.5(PIGN):c.1749G>C (p.Arg583=) rs200401462
NM_176787.5(PIGN):c.1761A>G (p.Arg587=) rs1555683899
NM_176787.5(PIGN):c.1767+14T>C
NM_176787.5(PIGN):c.1767+16T>A
NM_176787.5(PIGN):c.1767+18G>C
NM_176787.5(PIGN):c.1767+19A>T
NM_176787.5(PIGN):c.1821G>A (p.Leu607=) rs2146406424
NM_176787.5(PIGN):c.1845A>G (p.Pro615=)
NM_176787.5(PIGN):c.1848C>T (p.Asp616=) rs542129649
NM_176787.5(PIGN):c.1859+20T>C
NM_176787.5(PIGN):c.1859+241C>A rs115219773
NM_176787.5(PIGN):c.1859+247dup rs200304462
NM_176787.5(PIGN):c.1859+8T>C
NM_176787.5(PIGN):c.1859+9A>G
NM_176787.5(PIGN):c.1860-14G>A rs2146350527
NM_176787.5(PIGN):c.1860-17A>G rs2146350635
NM_176787.5(PIGN):c.1860-18A>G
NM_176787.5(PIGN):c.1860-19T>C
NM_176787.5(PIGN):c.1860-8C>T
NM_176787.5(PIGN):c.1869A>G (p.Ala623=) rs763671604
NM_176787.5(PIGN):c.1876C>T (p.Leu626=)
NM_176787.5(PIGN):c.1878G>T (p.Leu626=)
NM_176787.5(PIGN):c.1893C>T (p.Ser631=) rs2146349556
NM_176787.5(PIGN):c.1908A>G (p.Thr636=)
NM_176787.5(PIGN):c.1935T>C (p.Phe645=) rs2034497301
NM_176787.5(PIGN):c.1950A>T (p.Leu650=)
NM_176787.5(PIGN):c.1968+19A>G
NM_176787.5(PIGN):c.1968+8A>G
NM_176787.5(PIGN):c.1968+9C>T
NM_176787.5(PIGN):c.1969-13T>C
NM_176787.5(PIGN):c.1969-15C>G
NM_176787.5(PIGN):c.1969-15C>T
NM_176787.5(PIGN):c.1969-18T>C
NM_176787.5(PIGN):c.1969-20dup
NM_176787.5(PIGN):c.1969-4T>C
NM_176787.5(PIGN):c.1969-6C>T rs2146319671
NM_176787.5(PIGN):c.1969-7T>C
NM_176787.5(PIGN):c.1969-8G>A
NM_176787.5(PIGN):c.1986C>T (p.Leu662=)
NM_176787.5(PIGN):c.2004T>C (p.Tyr668=)
NM_176787.5(PIGN):c.2025C>G (p.Leu675=)
NM_176787.5(PIGN):c.2025C>T (p.Leu675=) rs1428307928
NM_176787.5(PIGN):c.2028G>A (p.Arg676=)
NM_176787.5(PIGN):c.2077+20A>G
NM_176787.5(PIGN):c.2077+9C>T
NM_176787.5(PIGN):c.2078-15T>A rs2146210005
NM_176787.5(PIGN):c.2078-17G>C
NM_176787.5(PIGN):c.2078-18del
NM_176787.5(PIGN):c.2097A>C (p.Pro699=)
NM_176787.5(PIGN):c.2118C>T (p.Leu706=)
NM_176787.5(PIGN):c.2128T>C (p.Leu710=)
NM_176787.5(PIGN):c.2136C>T (p.Ser712=) rs2146208534
NM_176787.5(PIGN):c.2149T>C (p.Leu717=)
NM_176787.5(PIGN):c.2166A>G (p.Leu722=) rs1599505864
NM_176787.5(PIGN):c.2169T>G (p.Leu723=)
NM_176787.5(PIGN):c.2178A>G (p.Thr726=) rs534335411
NM_176787.5(PIGN):c.2180+20T>A
NM_176787.5(PIGN):c.2181-10_2181-7del rs1568164005
NM_176787.5(PIGN):c.2181-11C>G
NM_176787.5(PIGN):c.2181-11C>T
NM_176787.5(PIGN):c.2181-12C>T
NM_176787.5(PIGN):c.2181-13C>T
NM_176787.5(PIGN):c.2181-17C>G
NM_176787.5(PIGN):c.2181-20T>C
NM_176787.5(PIGN):c.2181-4T>C
NM_176787.5(PIGN):c.2181-70A>G rs139603590
NM_176787.5(PIGN):c.2199A>G (p.Pro733=)
NM_176787.5(PIGN):c.2205G>A (p.Val735=) rs934465368
NM_176787.5(PIGN):c.221+16G>T
NM_176787.5(PIGN):c.221+17A>C
NM_176787.5(PIGN):c.221+19A>G
NM_176787.5(PIGN):c.221+7A>C rs759988883
NM_176787.5(PIGN):c.221+9G>A
NM_176787.5(PIGN):c.222-12A>G
NM_176787.5(PIGN):c.222-17T>C
NM_176787.5(PIGN):c.222-4T>C
NM_176787.5(PIGN):c.222-9A>G rs1555696947
NM_176787.5(PIGN):c.2253A>G (p.Leu751=)
NM_176787.5(PIGN):c.2256A>G (p.Gln752=)
NM_176787.5(PIGN):c.2259A>G (p.Gln753=)
NM_176787.5(PIGN):c.2283+18T>C
NM_176787.5(PIGN):c.2283+8G>C
NM_176787.5(PIGN):c.2284-15C>G
NM_176787.5(PIGN):c.2284-16T>C
NM_176787.5(PIGN):c.2284-18T>A
NM_176787.5(PIGN):c.2284-9A>G
NM_176787.5(PIGN):c.228C>A (p.Ile76=)
NM_176787.5(PIGN):c.2292T>C (p.Ser764=)
NM_176787.5(PIGN):c.2298G>A (p.Gln766=)
NM_176787.5(PIGN):c.2313T>C (p.Thr771=) rs2033829700
NM_176787.5(PIGN):c.2337A>G (p.Leu779=) rs768724419
NM_176787.5(PIGN):c.2370+10G>A
NM_176787.5(PIGN):c.2370+10G>T
NM_176787.5(PIGN):c.2370+13G>A
NM_176787.5(PIGN):c.2370+16A>G
NM_176787.5(PIGN):c.2371-16C>T
NM_176787.5(PIGN):c.2371-17T>C
NM_176787.5(PIGN):c.2371-6C>A
NM_176787.5(PIGN):c.237T>C (p.His79=)
NM_176787.5(PIGN):c.2391A>G (p.Ala797=)
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys) rs1555679237
NM_176787.5(PIGN):c.2426+13G>T
NM_176787.5(PIGN):c.2426+20G>T
NM_176787.5(PIGN):c.2427-11T>C
NM_176787.5(PIGN):c.2427-12A>G
NM_176787.5(PIGN):c.2427-4C>T rs1323419258
NM_176787.5(PIGN):c.2455C>T (p.Leu819=) rs1190711274
NM_176787.5(PIGN):c.2460T>C (p.Thr820=)
NM_176787.5(PIGN):c.246C>T (p.Ser82=)
NM_176787.5(PIGN):c.2490G>T (p.Leu830=) rs2145944475
NM_176787.5(PIGN):c.2502+10C>G rs2145944224
NM_176787.5(PIGN):c.2502+13A>G
NM_176787.5(PIGN):c.2502+14T>C
NM_176787.5(PIGN):c.2502+180A>T rs9962244
NM_176787.5(PIGN):c.2502+9T>C
NM_176787.5(PIGN):c.2503-11T>C
NM_176787.5(PIGN):c.2503-12G>A
NM_176787.5(PIGN):c.2503-15A>G rs2145913031
NM_176787.5(PIGN):c.2503-19A>G
NM_176787.5(PIGN):c.2503-4A>G
NM_176787.5(PIGN):c.2503-8T>C rs2145912826
NM_176787.5(PIGN):c.2511C>T (p.Ile837=)
NM_176787.5(PIGN):c.2514C>T (p.Pro838=)
NM_176787.5(PIGN):c.2535T>C (p.Ala845=)
NM_176787.5(PIGN):c.2551T>C (p.Leu851=)
NM_176787.5(PIGN):c.2559T>G (p.Thr853=)
NM_176787.5(PIGN):c.2565A>G (p.Leu855=)
NM_176787.5(PIGN):c.2568G>A (p.Ser856=) rs539259082
NM_176787.5(PIGN):c.2568G>C (p.Ser856=) rs539259082
NM_176787.5(PIGN):c.2568G>T (p.Ser856=)
NM_176787.5(PIGN):c.2576+14_2576+17del
NM_176787.5(PIGN):c.2576+17T>G
NM_176787.5(PIGN):c.2576+18A>G
NM_176787.5(PIGN):c.2576+20G>T
NM_176787.5(PIGN):c.2577-13T>C
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_176787.5(PIGN):c.2577-14_2577-13del rs761896011
NM_176787.5(PIGN):c.2577-15T>C
NM_176787.5(PIGN):c.2577-4C>T
NM_176787.5(PIGN):c.2577-4_2577-3insA
NM_176787.5(PIGN):c.2586C>A (p.Leu862=)
NM_176787.5(PIGN):c.2586C>G (p.Leu862=)
NM_176787.5(PIGN):c.2589T>C (p.Ile863=) rs2145764066
NM_176787.5(PIGN):c.2601A>C (p.Ile867=)
NM_176787.5(PIGN):c.2619+12C>G
NM_176787.5(PIGN):c.2619+13T>C
NM_176787.5(PIGN):c.2619+14G>C
NM_176787.5(PIGN):c.2619+15G>C
NM_176787.5(PIGN):c.2619+17T>C
NM_176787.5(PIGN):c.2619+20T>C
NM_176787.5(PIGN):c.2620-14T>G
NM_176787.5(PIGN):c.2620-17_2620-15dup rs11437076
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-18C>T
NM_176787.5(PIGN):c.2620-19C>A
NM_176787.5(PIGN):c.2620-19C>G
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.2620-6_2620-5insTC rs776271606
NM_176787.5(PIGN):c.2637C>T (p.Val879=) rs2145718423
NM_176787.5(PIGN):c.2672+13T>C
NM_176787.5(PIGN):c.2672+16del
NM_176787.5(PIGN):c.2672+7T>C rs2145717132
NM_176787.5(PIGN):c.2673-20A>G
NM_176787.5(PIGN):c.2691T>A (p.Ile897=)
NM_176787.5(PIGN):c.2700C>T (p.Ser900=) rs2144985661
NM_176787.5(PIGN):c.2706C>T (p.Thr902=)
NM_176787.5(PIGN):c.2713T>C (p.Leu905=) rs2144985429
NM_176787.5(PIGN):c.2721C>T (p.Phe907=)
NM_176787.5(PIGN):c.2730C>T (p.Gly910=)
NM_176787.5(PIGN):c.2736C>G (p.Ala912=)
NM_176787.5(PIGN):c.2736C>T (p.Ala912=)
NM_176787.5(PIGN):c.273A>G (p.Pro91=) rs368198964
NM_176787.5(PIGN):c.273A>T (p.Pro91=)
NM_176787.5(PIGN):c.2740C>T (p.Leu914=) rs1568111385
NM_176787.5(PIGN):c.2742G>T (p.Leu914=)
NM_176787.5(PIGN):c.2745C>G (p.Leu915=) rs764309084
NM_176787.5(PIGN):c.2751G>A (p.Thr917=)
NM_176787.5(PIGN):c.2763A>G (p.Arg921=)
NM_176787.5(PIGN):c.2764C>T (p.Leu922=)
NM_176787.5(PIGN):c.2766A>G (p.Leu922=)
NM_176787.5(PIGN):c.276A>G (p.Thr92=) rs2147529140
NM_176787.5(PIGN):c.285G>A (p.Arg95=)
NM_176787.5(PIGN):c.288A>C (p.Pro96=) rs1599654908
NM_176787.5(PIGN):c.343+10A>G
NM_176787.5(PIGN):c.343+14G>A rs777575965
NM_176787.5(PIGN):c.344-18C>T
NM_176787.5(PIGN):c.344-19G>A
NM_176787.5(PIGN):c.344-19G>C rs764432688
NM_176787.5(PIGN):c.344-19G>T
NM_176787.5(PIGN):c.344-5T>C rs2147517964
NM_176787.5(PIGN):c.351G>A (p.Lys117=)
NM_176787.5(PIGN):c.369T>C (p.Phe123=)
NM_176787.5(PIGN):c.399A>G (p.Thr133=)
NM_176787.5(PIGN):c.399A>T (p.Thr133=)
NM_176787.5(PIGN):c.424C>T (p.Leu142=)
NM_176787.5(PIGN):c.426G>C (p.Leu142=) rs191939518
NM_176787.5(PIGN):c.42G>A (p.Val14=)
NM_176787.5(PIGN):c.435T>C (p.Phe145=)
NM_176787.5(PIGN):c.442+11C>T
NM_176787.5(PIGN):c.442+12T>C
NM_176787.5(PIGN):c.442+16T>C rs2147515290
NM_176787.5(PIGN):c.442+17A>T rs1394167762
NM_176787.5(PIGN):c.442+18T>C rs1292110609
NM_176787.5(PIGN):c.442+9C>T
NM_176787.5(PIGN):c.443-10T>A
NM_176787.5(PIGN):c.443-20T>C
NM_176787.5(PIGN):c.443-6T>C
NM_176787.5(PIGN):c.443-7T>C
NM_176787.5(PIGN):c.443-7T>G rs2147456493
NM_176787.5(PIGN):c.444T>C (p.Gly148=)
NM_176787.5(PIGN):c.462T>C (p.Val154=)
NM_176787.5(PIGN):c.477T>C (p.Tyr159=)
NM_176787.5(PIGN):c.489A>G (p.Arg163=)
NM_176787.5(PIGN):c.492G>A (p.Glu164=)
NM_176787.5(PIGN):c.507A>G (p.Gln169=)
NM_176787.5(PIGN):c.519A>G (p.Lys173=)
NM_176787.5(PIGN):c.51C>G (p.Ala17=) rs370228697
NM_176787.5(PIGN):c.549+16T>C
NM_176787.5(PIGN):c.550-15A>G
NM_176787.5(PIGN):c.550-18C>T
NM_176787.5(PIGN):c.550-5T>C
NM_176787.5(PIGN):c.550-7T>C rs1036464453
NM_176787.5(PIGN):c.564T>C (p.His188=) rs1455926626
NM_176787.5(PIGN):c.597A>C (p.Ile199=)
NM_176787.5(PIGN):c.654T>C (p.His218=)
NM_176787.5(PIGN):c.657T>C (p.Ala219=)
NM_176787.5(PIGN):c.666A>G (p.Pro222=)
NM_176787.5(PIGN):c.674+11del
NM_176787.5(PIGN):c.674+15T>C
NM_176787.5(PIGN):c.675-11T>C
NM_176787.5(PIGN):c.675-12C>G
NM_176787.5(PIGN):c.675-13T>G
NM_176787.5(PIGN):c.675-17del
NM_176787.5(PIGN):c.675-18_675-17del rs2147290365
NM_176787.5(PIGN):c.675-20C>A
NM_176787.5(PIGN):c.675-20del
NM_176787.5(PIGN):c.675-321A>C rs78946023
NM_176787.5(PIGN):c.675-7C>T rs1599630453
NM_176787.5(PIGN):c.675-9T>C
NM_176787.5(PIGN):c.696A>G (p.Lys232=)
NM_176787.5(PIGN):c.705T>C (p.Asp235=) rs1218953227
NM_176787.5(PIGN):c.723C>A (p.Ile241=)
NM_176787.5(PIGN):c.726G>A (p.Val242=) rs927563794
NM_176787.5(PIGN):c.72T>C (p.Phe24=)
NM_176787.5(PIGN):c.738C>T (p.Asn246=)
NM_176787.5(PIGN):c.744C>T (p.Phe248=) rs199643144
NM_176787.5(PIGN):c.768A>G (p.Thr256=)
NM_176787.5(PIGN):c.786C>T (p.Asp262=)
NM_176787.5(PIGN):c.805+14T>C
NM_176787.5(PIGN):c.805+15_805+18del
NM_176787.5(PIGN):c.805+16A>G
NM_176787.5(PIGN):c.805+17T>C rs2036353059
NM_176787.5(PIGN):c.805+8T>G rs1179151487
NM_176787.5(PIGN):c.806-14T>C
NM_176787.5(PIGN):c.806-15A>G
NM_176787.5(PIGN):c.806-16T>A
NM_176787.5(PIGN):c.806-19C>T rs2036316730
NM_176787.5(PIGN):c.806-5del rs2147270911
NM_176787.5(PIGN):c.810C>G (p.Ser270=)
NM_176787.5(PIGN):c.810C>T (p.Ser270=) rs2036315475
NM_176787.5(PIGN):c.813T>C (p.His271=)
NM_176787.5(PIGN):c.831A>G (p.Ser277=)
NM_176787.5(PIGN):c.852C>T (p.Val284=) rs2147270078
NM_176787.5(PIGN):c.855T>A (p.Thr285=)
NM_176787.5(PIGN):c.861A>G (p.Gly287=)
NM_176787.5(PIGN):c.888A>G (p.Val296=) rs1424590889
NM_176787.5(PIGN):c.891A>C (p.Ser297=)
NM_176787.5(PIGN):c.903T>C (p.Phe301=)
NM_176787.5(PIGN):c.90T>C (p.His30=)
NM_176787.5(PIGN):c.912A>C (p.Ala304=)
NM_176787.5(PIGN):c.912A>G (p.Ala304=)
NM_176787.5(PIGN):c.922+16T>C
NM_176787.5(PIGN):c.922+19T>A
NM_176787.5(PIGN):c.922+20G>T
NM_176787.5(PIGN):c.923-13T>C
NM_176787.5(PIGN):c.923-18T>C
NM_176787.5(PIGN):c.923-19G>A
NM_176787.5(PIGN):c.93A>T (p.Gly31=) rs2036942488
NM_176787.5(PIGN):c.951A>C (p.Leu317=)
NM_176787.5(PIGN):c.951A>T (p.Leu317=)
NM_176787.5(PIGN):c.963+11C>G
NM_176787.5(PIGN):c.963+12G>A rs138653837
NM_176787.5(PIGN):c.963+12G>T rs138653837
NM_176787.5(PIGN):c.963+13A>G
NM_176787.5(PIGN):c.963+16T>C
NM_176787.5(PIGN):c.963+17T>A
NM_176787.5(PIGN):c.963+7A>G
NM_176787.5(PIGN):c.964-17A>G
NM_176787.5(PIGN):c.975A>G (p.Ala325=)
NM_176787.5(PIGN):c.978A>G (p.Pro326=)
NM_176787.5(PIGN):c.979T>C (p.Leu327=) rs2147170741
NM_176787.5(PIGN):c.999A>C (p.Gly333=) rs2147170432
NM_176787.5(PIGN):c.9G>A (p.Leu3=) rs2147620565
NM_176787.5(PIGN):c.9G>C (p.Leu3=)

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