ClinVar Miner

List of variants in gene PIGN studied for disorder of GPI anchor biosynthesis

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1113
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_176787.5(PIGN):c.741C>T (p.His247=) rs9320000 0.56637
NM_176787.5(PIGN):c.344-30T>A rs1021953 0.52712
NM_176787.5(PIGN):c.1116+26G>A rs2298779 0.35890
NM_176787.5(PIGN):c.1023+18A>G rs12608212 0.31260
NM_176787.5(PIGN):c.2502+49A>G rs1560502 0.28608
NM_176787.5(PIGN):c.939T>C (p.Asn313=) rs34227891 0.24195
NM_176787.5(PIGN):c.806-7T>A rs61751989 0.21786
NM_176787.5(PIGN):c.1962G>A (p.Leu654=) rs12326381 0.17264
NM_176787.5(PIGN):c.1245T>C (p.Asp415=) rs13381627 0.17246
NM_176787.5(PIGN):c.2010T>C (p.Thr670=) rs17714063 0.17242
NM_176787.5(PIGN):c.1752G>A (p.Leu584=) rs9319997 0.17086
NM_176787.5(PIGN):c.1377T>C (p.Ser459=) rs17714875 0.16805
NM_176787.5(PIGN):c.1859+17A>G rs75516428 0.06372
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu) rs17069506 0.04997
NM_176787.5(PIGN):c.2619+14G>A rs141117706 0.01868
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_176787.5(PIGN):c.1488A>G (p.Ala496=) rs2298784 0.00911
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_176787.5(PIGN):c.1251+11C>T rs141918272 0.00571
NM_176787.5(PIGN):c.964-20T>C rs148402610 0.00373
NM_176787.5(PIGN):c.309T>C (p.Ala103=) rs17069511 0.00346
NM_176787.5(PIGN):c.528G>A (p.Thr176=) rs144304758 0.00291
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00282
NM_176787.5(PIGN):c.2503-14T>C rs200850641 0.00187
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
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.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.1387A>G (p.Ile463Val) rs201027656 0.00019
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.963+11C>T rs186152849 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.2619+87G>A rs576621607 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met) rs61755364 0.00014
NM_176787.5(PIGN):c.1110G>C (p.Gln370His) rs185022348 0.00013
NM_176787.5(PIGN):c.1428A>T (p.Glu476Asp) rs182470608 0.00013
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr) rs370794466 0.00012
NM_176787.5(PIGN):c.1860-12A>G rs376234332 0.00012
NM_176787.5(PIGN):c.2447A>G (p.Tyr816Cys) rs200750917 0.00012
NM_176787.5(PIGN):c.139G>C (p.Val47Leu) rs375744259 0.00011
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.2707A>G (p.Ile903Val) rs747799115 0.00011
NM_176787.5(PIGN):c.884G>T (p.Arg295Ile) rs377036162 0.00011
NM_176787.5(PIGN):c.2413G>A (p.Ala805Thr) rs771022458 0.00010
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.548_549+6del rs779636222 0.00010
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg) rs775932562 0.00009
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.1816C>G (p.Pro606Ala) rs776011686 0.00008
NM_176787.5(PIGN):c.317A>C (p.Tyr106Ser) rs368280915 0.00008
NM_176787.5(PIGN):c.1251+12G>A rs1250760771 0.00007
NM_176787.5(PIGN):c.1276C>A (p.His426Asn) rs550779204 0.00007
NM_176787.5(PIGN):c.1398T>C (p.His466=) rs61755361 0.00007
NM_176787.5(PIGN):c.776T>C (p.Phe259Ser) rs370310838 0.00007
NM_176787.5(PIGN):c.938A>C (p.Asn313Thr) rs916813245 0.00007
NM_176787.5(PIGN):c.1145C>A (p.Thr382Asn) rs756101712 0.00006
NM_176787.5(PIGN):c.1396C>T (p.His466Tyr) rs149709766 0.00006
NM_176787.5(PIGN):c.1486G>A (p.Ala496Thr) rs368439210 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.1693C>T (p.Arg565Cys) rs374005156 0.00006
NM_176787.5(PIGN):c.1694G>A (p.Arg565His) rs201835155 0.00006
NM_176787.5(PIGN):c.1708G>A (p.Ala570Thr) rs527249979 0.00006
NM_176787.5(PIGN):c.2284-1G>C rs760977825 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.460G>A (p.Val154Ile) rs181730303 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 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.1365A>G (p.Ile455Met) rs773897013 0.00004
NM_176787.5(PIGN):c.1418T>C (p.Val473Ala) rs922043983 0.00004
NM_176787.5(PIGN):c.1562C>T (p.Ala521Val) rs765393406 0.00004
NM_176787.5(PIGN):c.1646T>C (p.Leu549Ser) rs769428343 0.00004
NM_176787.5(PIGN):c.1674+1G>C rs376355678 0.00004
NM_176787.5(PIGN):c.1728A>G (p.Ala576=) rs753758318 0.00004
NM_176787.5(PIGN):c.1826C>T (p.Pro609Leu) rs371792847 0.00004
NM_176787.5(PIGN):c.1969-19A>G rs773187644 0.00004
NM_176787.5(PIGN):c.1984C>T (p.Leu662Phe) rs377552386 0.00004
NM_176787.5(PIGN):c.2124G>A (p.Gln708=) rs768321430 0.00004
NM_176787.5(PIGN):c.2191C>G (p.Leu731Val) rs754047821 0.00004
NM_176787.5(PIGN):c.2202A>C (p.Leu734=) rs372339870 0.00004
NM_176787.5(PIGN):c.2203G>A (p.Val735Met) rs751485479 0.00004
NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter) rs749334082 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_176787.5(PIGN):c.2746A>G (p.Thr916Ala) rs754732184 0.00004
NM_176787.5(PIGN):c.527C>T (p.Thr176Met) rs201833876 0.00004
NM_176787.5(PIGN):c.736A>T (p.Asn246Tyr) rs371787045 0.00004
NM_176787.5(PIGN):c.896A>G (p.Gln299Arg) rs576797024 0.00004
NM_176787.5(PIGN):c.922+9A>G rs753295521 0.00004
NM_176787.5(PIGN):c.117G>T (p.Leu39Phe) rs986148241 0.00003
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_176787.5(PIGN):c.1371T>C (p.Tyr457=) rs761856805 0.00003
NM_176787.5(PIGN):c.1442G>A (p.Ser481Asn) rs763149264 0.00003
NM_176787.5(PIGN):c.1614C>G (p.Thr538=) rs1461542784 0.00003
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly) rs745318716 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.2283+3A>G rs1456523787 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.2590G>A (p.Val864Ile) rs966106333 0.00003
NM_176787.5(PIGN):c.2672+3A>G rs1226895379 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.724G>A (p.Val242Met) rs374310718 0.00003
NM_176787.5(PIGN):c.781T>A (p.Ser261Thr) rs768752806 0.00003
NM_176787.5(PIGN):c.881A>G (p.Gln294Arg) rs369738113 0.00003
NM_176787.5(PIGN):c.959A>G (p.Asn320Ser) rs936914222 0.00003
NM_176787.5(PIGN):c.1117-8G>T rs1352211280 0.00002
NM_176787.5(PIGN):c.1117G>T (p.Val373Leu) rs753687210 0.00002
NM_176787.5(PIGN):c.1213G>A (p.Ala405Thr) rs1314745962 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.1430T>A (p.Val477Glu) rs1375506054 0.00002
NM_176787.5(PIGN):c.1593C>A (p.Asp531Glu) rs768522173 0.00002
NM_176787.5(PIGN):c.1619C>T (p.Pro540Leu) rs762966799 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.16A>T (p.Thr6Ser) rs1231914665 0.00002
NM_176787.5(PIGN):c.1748G>A (p.Arg583Gln) rs1244878709 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.1985T>C (p.Leu662Pro) rs1254942786 0.00002
NM_176787.5(PIGN):c.2017A>G (p.Ser673Gly) rs754285689 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.2078-3C>T rs757219848 0.00002
NM_176787.5(PIGN):c.2139A>G (p.Ile713Met) rs547759377 0.00002
NM_176787.5(PIGN):c.2155T>C (p.Ser719Pro) rs781515326 0.00002
NM_176787.5(PIGN):c.2167C>T (p.Leu723Phe) rs374945919 0.00002
NM_176787.5(PIGN):c.2241A>G (p.Glu747=) rs1323193172 0.00002
NM_176787.5(PIGN):c.2312C>T (p.Thr771Ile) rs748649004 0.00002
NM_176787.5(PIGN):c.2427-10A>G rs565774956 0.00002
NM_176787.5(PIGN):c.2486C>T (p.Ala829Val) rs375027313 0.00002
NM_176787.5(PIGN):c.2528T>C (p.Met843Thr) rs983436635 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.2768G>C (p.Cys923Ser) rs369297861 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_176787.5(PIGN):c.414C>G (p.Ser138Arg) rs780427906 0.00002
NM_176787.5(PIGN):c.439A>T (p.Lys147Ter) rs370389707 0.00002
NM_176787.5(PIGN):c.48C>T (p.Phe16=) rs148669516 0.00002
NM_176787.5(PIGN):c.662G>T (p.Arg221Leu) rs375338906 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 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.1189A>T (p.Lys397Ter) rs1050258088 0.00001
NM_176787.5(PIGN):c.1202T>G (p.Ile401Ser) rs2035017172 0.00001
NM_176787.5(PIGN):c.1207A>C (p.Arg403=) rs755903091 0.00001
NM_176787.5(PIGN):c.1214C>T (p.Ala405Val) rs1599554302 0.00001
NM_176787.5(PIGN):c.1240T>A (p.Phe414Ile) rs548412299 0.00001
NM_176787.5(PIGN):c.1249G>A (p.Val417Met) rs762619265 0.00001
NM_176787.5(PIGN):c.1252-17A>G rs567772966 0.00001
NM_176787.5(PIGN):c.1252-2A>G rs1360977917 0.00001
NM_176787.5(PIGN):c.1254C>G (p.Val418=) rs747045046 0.00001
NM_176787.5(PIGN):c.1278T>A (p.His426Gln) rs1289460027 0.00001
NM_176787.5(PIGN):c.128C>T (p.Ala43Val) rs759600092 0.00001
NM_176787.5(PIGN):c.129G>A (p.Ala43=) rs776573483 0.00001
NM_176787.5(PIGN):c.1312T>C (p.Tyr438His) rs745667697 0.00001
NM_176787.5(PIGN):c.1337A>G (p.Asn446Ser) rs752377694 0.00001
NM_176787.5(PIGN):c.1356G>A (p.Val452=) rs754184885 0.00001
NM_176787.5(PIGN):c.1369T>G (p.Tyr457Asp) rs374735293 0.00001
NM_176787.5(PIGN):c.1379T>C (p.Leu460Ser) rs1250732619 0.00001
NM_176787.5(PIGN):c.1419T>C (p.Val473=) rs2034945773 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.147T>C (p.Phe49=) rs1246376426 0.00001
NM_176787.5(PIGN):c.1485del (p.Ala496fs) rs1568185349 0.00001
NM_176787.5(PIGN):c.1505A>G (p.Gln502Arg) rs748821498 0.00001
NM_176787.5(PIGN):c.1552A>G (p.Ile518Val) rs1178562971 0.00001
NM_176787.5(PIGN):c.1600G>A (p.Val534Ile) rs1318186935 0.00001
NM_176787.5(PIGN):c.1603T>C (p.Ser535Pro) rs906768360 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_176787.5(PIGN):c.1680C>G (p.Leu560=) rs774775954 0.00001
NM_176787.5(PIGN):c.1684T>A (p.Phe562Ile) rs769181999 0.00001
NM_176787.5(PIGN):c.1696T>C (p.Tyr566His) rs781624190 0.00001
NM_176787.5(PIGN):c.1697A>G (p.Tyr566Cys) rs540784458 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.1859+6A>C rs1198396774 0.00001
NM_176787.5(PIGN):c.1864G>C (p.Gly622Arg) rs751201901 0.00001
NM_176787.5(PIGN):c.1886T>C (p.Leu629Pro) rs765678852 0.00001
NM_176787.5(PIGN):c.1891T>C (p.Ser631Pro) rs931135444 0.00001
NM_176787.5(PIGN):c.1958A>C (p.His653Pro) rs1217364448 0.00001
NM_176787.5(PIGN):c.2000T>C (p.Val667Ala) rs747013434 0.00001
NM_176787.5(PIGN):c.200A>C (p.Asn67Thr) rs1328150234 0.00001
NM_176787.5(PIGN):c.2056A>G (p.Ile686Val) rs776384729 0.00001
NM_176787.5(PIGN):c.2062A>C (p.Ser688Arg) rs1251827296 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.2092G>A (p.Val698Met) rs369249247 0.00001
NM_176787.5(PIGN):c.2098C>T (p.Leu700=) rs766146498 0.00001
NM_176787.5(PIGN):c.2119T>C (p.Phe707Leu) rs188842844 0.00001
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NM_176787.5(PIGN):c.212C>T (p.Pro71Leu) rs753014750 0.00001
NM_176787.5(PIGN):c.2180+8C>T rs767264989 0.00001
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg) rs771266203 0.00001
NM_176787.5(PIGN):c.2269T>C (p.Cys757Arg) rs1228997937 0.00001
NM_176787.5(PIGN):c.2272T>C (p.Cys758Arg) rs755079390 0.00001
NM_176787.5(PIGN):c.2301C>G (p.Phe767Leu) rs867665036 0.00001
NM_176787.5(PIGN):c.2306A>G (p.Tyr769Cys) rs1284589322 0.00001
NM_176787.5(PIGN):c.2309A>G (p.Asn770Ser) rs1208917751 0.00001
NM_176787.5(PIGN):c.2318T>C (p.Ile773Thr) rs958638006 0.00001
NM_176787.5(PIGN):c.2330G>A (p.Arg777Gln) rs1367034182 0.00001
NM_176787.5(PIGN):c.2337A>C (p.Leu779=) rs768724419 0.00001
NM_176787.5(PIGN):c.233T>C (p.Met78Thr) rs748501083 0.00001
NM_176787.5(PIGN):c.2353C>T (p.Arg785Cys) rs780284457 0.00001
NM_176787.5(PIGN):c.237T>A (p.His79Gln) rs1396275031 0.00001
NM_176787.5(PIGN):c.2415T>G (p.Ala805=) rs1294928387 0.00001
NM_176787.5(PIGN):c.2427-9A>G rs1389535822 0.00001
NM_176787.5(PIGN):c.2437G>T (p.Ala813Ser) rs769813940 0.00001
NM_176787.5(PIGN):c.2444T>C (p.Val815Ala) rs2033602960 0.00001
NM_176787.5(PIGN):c.2494A>T (p.Met832Leu) rs1363341109 0.00001
NM_176787.5(PIGN):c.2502+19T>G rs2033596043 0.00001
NM_176787.5(PIGN):c.250G>A (p.Gly84Ser) rs1244229285 0.00001
NM_176787.5(PIGN):c.2519T>C (p.Val840Ala) rs779971442 0.00001
NM_176787.5(PIGN):c.2567C>T (p.Ser856Leu) rs780781469 0.00001
NM_176787.5(PIGN):c.2596G>A (p.Val866Ile) rs367627571 0.00001
NM_176787.5(PIGN):c.2600T>C (p.Ile867Thr) rs745844688 0.00001
NM_176787.5(PIGN):c.265C>T (p.Arg89Cys) rs201242848 0.00001
NM_176787.5(PIGN):c.2668A>G (p.Thr890Ala) rs755462112 0.00001
NM_176787.5(PIGN):c.2671A>G (p.Ser891Gly) rs1275624636 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.2701A>G (p.Met901Val) rs771767518 0.00001
NM_176787.5(PIGN):c.2721C>G (p.Phe907Leu) rs780384079 0.00001
NM_176787.5(PIGN):c.2733G>C (p.Leu911=) rs771595900 0.00001
NM_176787.5(PIGN):c.2747C>T (p.Thr916Ile) rs753641623 0.00001
NM_176787.5(PIGN):c.274A>G (p.Thr92Ala) rs750517103 0.00001
NM_176787.5(PIGN):c.2761dup (p.Arg921fs) rs1257808212 0.00001
NM_176787.5(PIGN):c.344-1G>T rs776568529 0.00001
NM_176787.5(PIGN):c.366G>C (p.Glu122Asp) rs995354792 0.00001
NM_176787.5(PIGN):c.375T>A (p.Ser125=) rs773864600 0.00001
NM_176787.5(PIGN):c.394T>C (p.Tyr132His) rs1316042238 0.00001
NM_176787.5(PIGN):c.398C>T (p.Thr133Ile) rs1283550707 0.00001
NM_176787.5(PIGN):c.405C>T (p.Ser135=) rs1250542028 0.00001
NM_176787.5(PIGN):c.433T>C (p.Phe145Leu) rs879837156 0.00001
NM_176787.5(PIGN):c.468A>G (p.Thr156=) rs1449290330 0.00001
NM_176787.5(PIGN):c.473G>T (p.Ser158Ile) rs767550839 0.00001
NM_176787.5(PIGN):c.47T>C (p.Phe16Ser) rs933930437 0.00001
NM_176787.5(PIGN):c.490G>A (p.Glu164Lys) rs775172938 0.00001
NM_176787.5(PIGN):c.505C>T (p.Gln169Ter) rs369966550 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.562C>T (p.His188Tyr) rs773629540 0.00001
NM_176787.5(PIGN):c.567C>T (p.Ala189=) rs1198516321 0.00001
NM_176787.5(PIGN):c.610A>G (p.Ile204Val) rs1353757700 0.00001
NM_176787.5(PIGN):c.661C>T (p.Arg221Ter) rs1382897257 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.694A>T (p.Lys232Ter) rs886039218 0.00001
NM_176787.5(PIGN):c.709G>A (p.Gly237Arg) rs367920804 0.00001
NM_176787.5(PIGN):c.746A>G (p.Tyr249Cys) rs199555972 0.00001
NM_176787.5(PIGN):c.805+2T>C rs2036353930 0.00001
NM_176787.5(PIGN):c.808T>A (p.Ser270Thr) rs587777186 0.00001
NM_176787.5(PIGN):c.855T>C (p.Thr285=) rs1311950306 0.00001
NM_176787.5(PIGN):c.873G>C (p.Lys291Asn) rs755735717 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.94A>G (p.Met32Val) rs763448928 0.00001
NM_176787.5(PIGN):c.951A>G (p.Leu317=) rs1362423204 0.00001
NM_176787.5(PIGN):c.970A>G (p.Ile324Val) rs2036093894 0.00001
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598 0.00001
NM_176787.5(PIGN):c.994A>G (p.Ile332Val) rs373045834 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NC_000018.10:g.(?_62154545)_(62157808_?)del
NC_000018.10:g.62085265del
NC_000018.9:g.(?_59713069)_(59828606_?)del
NC_000018.9:g.(?_59713089)_(59752517_?)del
NC_000018.9:g.(?_59713089)_(59828586_?)del
NC_000018.9:g.(?_59739886)_(59749999_?)del
NC_000018.9:g.(?_59739886)_(59828586_?)del
NC_000018.9:g.(?_59755969)_(59763203_?)dup
NC_000018.9:g.(?_59755969)_(59781892_?)del
NC_000018.9:g.(?_59763071)_(59763193_?)del
NC_000018.9:g.(?_59768298)_(59770145_?)del
NC_000018.9:g.(?_59772865)_(59775077_?)del
NC_000018.9:g.(?_59780347)_(59828586_?)dup
NC_000018.9:g.(?_59805456)_(59806328_?)del
NC_000018.9:g.(?_59805456)_(59828586_?)del
NC_000018.9:g.(?_59805466)_(59806318_?)del
NC_000018.9:g.(?_59819870)_(59824935_?)del
NC_000018.9:g.(?_59819871)_(59824934_?)del
NC_000018.9:g.(?_59828346)_(59828586_?)del
NM_176787.5(PIGN):c.1004C>T (p.Pro335Leu) rs753868318
NM_176787.5(PIGN):c.1017C>T (p.Asn339=)
NM_176787.5(PIGN):c.1023+15T>G
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.1029C>T (p.Ile343=)
NM_176787.5(PIGN):c.1051A>T (p.Asn351Tyr)
NM_176787.5(PIGN):c.1052A>G (p.Asn351Ser) rs2036039075
NM_176787.5(PIGN):c.1060C>T (p.Leu354Phe)
NM_176787.5(PIGN):c.1066A>T (p.Lys356Ter)
NM_176787.5(PIGN):c.1076G>C (p.Ser359Thr) rs781206226
NM_176787.5(PIGN):c.1077C>G (p.Ser359Arg) rs2147147064
NM_176787.5(PIGN):c.108T>A (p.Phe36Leu) rs1460529773
NM_176787.5(PIGN):c.1091C>G (p.Ala364Gly) rs2036037191
NM_176787.5(PIGN):c.1092A>G (p.Ala364=)
NM_176787.5(PIGN):c.1095A>G (p.Val365=) rs2147146783
NM_176787.5(PIGN):c.1097A>T (p.Gln366Leu)
NM_176787.5(PIGN):c.1109A>C (p.Gln370Pro)
NM_176787.5(PIGN):c.1113C>G (p.Phe371Leu) rs1212978837
NM_176787.5(PIGN):c.1116+11A>C
NM_176787.5(PIGN):c.1116+11_1116+12del
NM_176787.5(PIGN):c.1116+12del rs199971157
NM_176787.5(PIGN):c.1116+12dup rs199971157
NM_176787.5(PIGN):c.1116+16A>C
NM_176787.5(PIGN):c.1116+1G>A
NM_176787.5(PIGN):c.1116+3A>G rs760033956
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.1117-15A>T
NM_176787.5(PIGN):c.1117-16C>T
NM_176787.5(PIGN):c.1117-18T>G
NM_176787.5(PIGN):c.1117-19T>C
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.1132A>T (p.Lys378Ter)
NM_176787.5(PIGN):c.1144A>G (p.Thr382Ala) rs1303809190
NM_176787.5(PIGN):c.1147T>G (p.Leu383Val) rs2147134178
NM_176787.5(PIGN):c.114A>C (p.Pro38=)
NM_176787.5(PIGN):c.114A>G (p.Pro38=)
NM_176787.5(PIGN):c.1151C>T (p.Pro384Leu) rs750379967
NM_176787.5(PIGN):c.1151dup (p.Phe385fs)
NM_176787.5(PIGN):c.1166C>T (p.Pro389Leu)
NM_176787.5(PIGN):c.1172+17_1172+18insATTTA
NM_176787.5(PIGN):c.1172+1G>A
NM_176787.5(PIGN):c.1176G>A (p.Leu392=)
NM_176787.5(PIGN):c.1194G>A (p.Gln398=) rs1261602194
NM_176787.5(PIGN):c.1196T>G (p.Phe399Cys)
NM_176787.5(PIGN):c.11del (p.Phe4fs)
NM_176787.5(PIGN):c.1207A>G (p.Arg403Gly) rs755903091
NM_176787.5(PIGN):c.120T>A (p.Pro40=) rs1392559455
NM_176787.5(PIGN):c.1217G>C (p.Arg406Thr) rs1444744679
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.1246del (p.Glu416fs)
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) rs1444518753
NM_176787.5(PIGN):c.1251+11C>A
NM_176787.5(PIGN):c.1251+14C>A
NM_176787.5(PIGN):c.1251+17T>G rs2146608826
NM_176787.5(PIGN):c.1251+18A>G
NM_176787.5(PIGN):c.1251+19T>C
NM_176787.5(PIGN):c.1251+5_1251+6insGCTATTTAT rs2035013726
NM_176787.5(PIGN):c.1251+6_1251+7delinsCTATTTATGTC rs2146609429
NM_176787.5(PIGN):c.1251+7A>C rs775042896
NM_176787.5(PIGN):c.1252-15G>A
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.1252-7T>G rs2146580626
NM_176787.5(PIGN):c.1252-8C>T
NM_176787.5(PIGN):c.1252-9dup
NM_176787.5(PIGN):c.1253T>C (p.Val418Ala) rs2146580404
NM_176787.5(PIGN):c.1257C>T (p.Ser419=)
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_176787.5(PIGN):c.1262G>A (p.Cys421Tyr)
NM_176787.5(PIGN):c.1270C>T (p.Leu424=)
NM_176787.5(PIGN):c.1280T>C (p.Leu427Pro) rs748351289
NM_176787.5(PIGN):c.1285T>C (p.Leu429=)
NM_176787.5(PIGN):c.1290A>G (p.Lys430=)
NM_176787.5(PIGN):c.1301A>G (p.Tyr434Cys)
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del) rs1568244811
NM_176787.5(PIGN):c.1311A>G (p.Thr437=)
NM_176787.5(PIGN):c.1311A>T (p.Thr437=)
NM_176787.5(PIGN):c.1312T>A (p.Tyr438Asn)
NM_176787.5(PIGN):c.1313A>G (p.Tyr438Cys) rs2034954477
NM_176787.5(PIGN):c.1314T>C (p.Tyr438=)
NM_176787.5(PIGN):c.1319G>A (p.Arg440Lys) rs2146578438
NM_176787.5(PIGN):c.1331G>A (p.Gly444Asp)
NM_176787.5(PIGN):c.1342G>T (p.Val448Phe)
NM_176787.5(PIGN):c.134G>C (p.Arg45Thr)
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.1362G>A (p.Trp454Ter)
NM_176787.5(PIGN):c.1374C>T (p.Ala458=) rs905642288
NM_176787.5(PIGN):c.1375T>C (p.Ser459Pro)
NM_176787.5(PIGN):c.1377T>G (p.Ser459=)
NM_176787.5(PIGN):c.1384A>G (p.Ile462Val)
NM_176787.5(PIGN):c.1407T>C (p.Leu469=)
NM_176787.5(PIGN):c.1408A>G (p.Ile470Val) rs3862712
NM_176787.5(PIGN):c.1408A>T (p.Ile470Leu) rs3862712
NM_176787.5(PIGN):c.1413A>G (p.Lys471=)
NM_176787.5(PIGN):c.1415G>A (p.Gly472Asp) rs113621756
NM_176787.5(PIGN):c.1415G>T (p.Gly472Val) rs113621756
NM_176787.5(PIGN):c.1417G>A (p.Val473Ile) rs2034946066
NM_176787.5(PIGN):c.1434+10G>T
NM_176787.5(PIGN):c.1434+11A>G rs2034944798
NM_176787.5(PIGN):c.1434+12A>C
NM_176787.5(PIGN):c.1434+14A>G
NM_176787.5(PIGN):c.1434+4C>T rs1451476667
NM_176787.5(PIGN):c.1434G>A (p.Lys478=) rs1336408586
NM_176787.5(PIGN):c.1434_1434+1delinsAA rs886041514
NM_176787.5(PIGN):c.1435-13_1435-10del rs2034811943
NM_176787.5(PIGN):c.1435-15del
NM_176787.5(PIGN):c.1435-16T>C
NM_176787.5(PIGN):c.1435-19G>A
NM_176787.5(PIGN):c.1435-9A>G
NM_176787.5(PIGN):c.1443C>T (p.Ser481=)
NM_176787.5(PIGN):c.1469C>T (p.Ala490Val)
NM_176787.5(PIGN):c.1472T>C (p.Ile491Thr)
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.1494dup (p.Leu499fs) rs750418747
NM_176787.5(PIGN):c.1508C>A (p.Ala503Asp)
NM_176787.5(PIGN):c.1508C>T (p.Ala503Val) rs1422620353
NM_176787.5(PIGN):c.1509C>T (p.Ala503=)
NM_176787.5(PIGN):c.1514C>T (p.Pro505Leu) rs2034807385
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter) rs2146506059
NM_176787.5(PIGN):c.1518G>A (p.Trp506Ter)
NM_176787.5(PIGN):c.1519_1523delinsTTTG (p.Thr507fs)
NM_176787.5(PIGN):c.1528G>A (p.Val510Ile) rs1013305939
NM_176787.5(PIGN):c.1529_1534del (p.Val510_Tyr511del) rs2034805106
NM_176787.5(PIGN):c.1533T>A (p.Tyr511Ter)
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.1556G>A (p.Trp519Ter)
NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter) rs560010455
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+1G>A
NM_176787.5(PIGN):c.1574+1G>C rs371315187
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.1575-4A>G rs1359611690
NM_176787.5(PIGN):c.1581A>G (p.Gln527=)
NM_176787.5(PIGN):c.1589A>G (p.Gln530Arg)
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.1600del (p.Val534fs)
NM_176787.5(PIGN):c.1605A>G (p.Ser535=)
NM_176787.5(PIGN):c.1609T>C (p.Leu537=)
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) rs1599663316
NM_176787.5(PIGN):c.1614del (p.Tyr539fs)
NM_176787.5(PIGN):c.1617T>A (p.Tyr539Ter)
NM_176787.5(PIGN):c.1627C>T (p.His543Tyr) rs1599535609
NM_176787.5(PIGN):c.1632T>C (p.Phe544=)
NM_176787.5(PIGN):c.1635T>G (p.Val545=)
NM_176787.5(PIGN):c.1637G>A (p.Gly546Glu)
NM_176787.5(PIGN):c.1638G>A (p.Gly546=)
NM_176787.5(PIGN):c.1642C>T (p.Leu548=)
NM_176787.5(PIGN):c.1646_1647insTTCTGTT (p.Leu549fs)
NM_176787.5(PIGN):c.1650C>G (p.Ala550=)
NM_176787.5(PIGN):c.1656C>G (p.Thr552=)
NM_176787.5(PIGN):c.1660G>A (p.Gly554Arg) rs747283967
NM_176787.5(PIGN):c.1665_1668dup (p.Val557Ter) rs2146439342
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.1675-1G>T rs772411133
NM_176787.5(PIGN):c.1675-5A>G
NM_176787.5(PIGN):c.1675-9C>T
NM_176787.5(PIGN):c.1678C>T (p.Leu560Phe) rs2146436684
NM_176787.5(PIGN):c.1680C>T (p.Leu560=)
NM_176787.5(PIGN):c.1683T>A (p.Ser561Arg)
NM_176787.5(PIGN):c.1688T>C (p.Phe563Ser) rs1484374045
NM_176787.5(PIGN):c.1688dup (p.Tyr564fs) rs768557691
NM_176787.5(PIGN):c.168A>G (p.Ala56=)
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1716T>C (p.Leu572=)
NM_176787.5(PIGN):c.1717dup (p.Thr573fs) rs1555683948
NM_176787.5(PIGN):c.1719T>C (p.Thr573=) rs1320741139
NM_176787.5(PIGN):c.171T>C (p.Asp57=)
NM_176787.5(PIGN):c.1722C>T (p.Ala574=)
NM_176787.5(PIGN):c.1729G>C (p.Ala577Pro) rs1455253954
NM_176787.5(PIGN):c.1731T>G (p.Ala577=)
NM_176787.5(PIGN):c.1732del (p.Trp578fs)
NM_176787.5(PIGN):c.1734G>T (p.Trp578Cys) rs2034658642
NM_176787.5(PIGN):c.1744A>G (p.Thr582Ala)
NM_176787.5(PIGN):c.1747C>T (p.Arg583Trp) rs1374261069
NM_176787.5(PIGN):c.1749G>C (p.Arg583=) rs200401462
NM_176787.5(PIGN):c.1756A>G (p.Thr586Ala)
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.1760G>A (p.Arg587Gln)
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.1767+1del
NM_176787.5(PIGN):c.1767G>A (p.Lys589=) rs2034656569
NM_176787.5(PIGN):c.179dup (p.Tyr60Ter)
NM_176787.5(PIGN):c.181G>A (p.Glu61Lys) rs200199765
NM_176787.5(PIGN):c.181G>T (p.Glu61Ter) rs200199765
NM_176787.5(PIGN):c.1820T>G (p.Leu607Arg) rs2146406479
NM_176787.5(PIGN):c.1821G>A (p.Leu607=) rs2146406424
NM_176787.5(PIGN):c.1835G>A (p.Gly612Asp) rs776827487
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1845A>G (p.Pro615=)
NM_176787.5(PIGN):c.1848C>T (p.Asp616=) rs542129649
NM_176787.5(PIGN):c.1853C>T (p.Ser618Phe) rs1599531404
NM_176787.5(PIGN):c.1859+13T>C
NM_176787.5(PIGN):c.1859+20T>C
NM_176787.5(PIGN):c.1859+4T>C rs2034603525
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.1860-1G>A rs1599525360
NM_176787.5(PIGN):c.1860-20T>C
NM_176787.5(PIGN):c.1860-8C>T
NM_176787.5(PIGN):c.1862T>A (p.Met621Lys)
NM_176787.5(PIGN):c.1869A>G (p.Ala623=) rs763671604
NM_176787.5(PIGN):c.1871G>T (p.Gly624Val) rs1346060513
NM_176787.5(PIGN):c.1876C>T (p.Leu626=)
NM_176787.5(PIGN):c.1878G>T (p.Leu626=)
NM_176787.5(PIGN):c.187G>C (p.Asp63His) rs2147616774
NM_176787.5(PIGN):c.1893C>T (p.Ser631=) rs2146349556
NM_176787.5(PIGN):c.1903G>A (p.Val635Ile)
NM_176787.5(PIGN):c.1908A>G (p.Thr636=)
NM_176787.5(PIGN):c.1921A>T (p.Arg641Ter)
NM_176787.5(PIGN):c.1924_1928del (p.Arg641_Lys642insTer)
NM_176787.5(PIGN):c.1928A>G (p.Asp643Gly)
NM_176787.5(PIGN):c.1935T>C (p.Phe645=) rs2034497301
NM_176787.5(PIGN):c.1940del (p.Lys647fs) rs1555682938
NM_176787.5(PIGN):c.1942G>A (p.Glu648Lys) rs772214052
NM_176787.5(PIGN):c.1948C>G (p.Leu650Val) rs1224775480
NM_176787.5(PIGN):c.1950A>T (p.Leu650=)
NM_176787.5(PIGN):c.1959T>C (p.His653=)
NM_176787.5(PIGN):c.195del (p.Asn65fs)
NM_176787.5(PIGN):c.1962_1963delinsAG (p.Leu655Val) rs2146347857
NM_176787.5(PIGN):c.1965A>C (p.Leu655Phe)
NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter) rs886039217
NM_176787.5(PIGN):c.1967A>G (p.Gln656Arg) rs1338840913
NM_176787.5(PIGN):c.1968+19A>G
NM_176787.5(PIGN):c.1968+7T>C
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.1980A>G (p.Thr660=)
NM_176787.5(PIGN):c.1986C>T (p.Leu662=)
NM_176787.5(PIGN):c.2004T>C (p.Tyr668=)
NM_176787.5(PIGN):c.2004T>G (p.Tyr668Ter)
NM_176787.5(PIGN):c.2004_2005del (p.Tyr668_Ser669delinsTer)
NM_176787.5(PIGN):c.2006G>C (p.Ser669Thr)
NM_176787.5(PIGN):c.200A>G (p.Asn67Ser) rs1328150234
NM_176787.5(PIGN):c.2018G>A (p.Ser673Asn)
NM_176787.5(PIGN):c.2018G>T (p.Ser673Ile) rs766943103
NM_176787.5(PIGN):c.2020del (p.Leu674fs)
NM_176787.5(PIGN):c.2025C>G (p.Leu675=)
NM_176787.5(PIGN):c.2025C>T (p.Leu675=) rs1428307928
NM_176787.5(PIGN):c.2026_2027del (p.Arg676fs) rs2034420069
NM_176787.5(PIGN):c.2028G>A (p.Arg676=)
NM_176787.5(PIGN):c.2038C>G (p.Leu680Val) rs767491900
NM_176787.5(PIGN):c.205A>G (p.Arg69Gly) rs1389624822
NM_176787.5(PIGN):c.2063G>A (p.Ser688Asn) rs2034417595
NM_176787.5(PIGN):c.2067G>C (p.Trp689Cys) rs2034417333
NM_176787.5(PIGN):c.2068G>T (p.Ala690Ser) rs1181385920
NM_176787.5(PIGN):c.2077+11A>G
NM_176787.5(PIGN):c.2077+14C>G
NM_176787.5(PIGN):c.2077+20A>G
NM_176787.5(PIGN):c.2077+2T>A rs1599520660
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.2078-19C>G
NM_176787.5(PIGN):c.2089G>T (p.Val697Phe) rs763127430
NM_176787.5(PIGN):c.2093T>G (p.Val698Gly)
NM_176787.5(PIGN):c.2097A>C (p.Pro699=)
NM_176787.5(PIGN):c.2102dup (p.Ser702fs)
NM_176787.5(PIGN):c.2118C>T (p.Leu706=)
NM_176787.5(PIGN):c.2121T>C (p.Phe707=)
NM_176787.5(PIGN):c.2125C>T (p.Arg709Ter)
NM_176787.5(PIGN):c.2126G>T (p.Arg709Leu)
NM_176787.5(PIGN):c.2128T>C (p.Leu710=)
NM_176787.5(PIGN):c.2129del (p.Leu710fs)
NM_176787.5(PIGN):c.2136C>T (p.Ser712=) rs2146208534
NM_176787.5(PIGN):c.2147C>A (p.Ser716Ter)
NM_176787.5(PIGN):c.2147C>G (p.Ser716Ter) rs1173098029
NM_176787.5(PIGN):c.2149T>C (p.Leu717=)
NM_176787.5(PIGN):c.2158A>G (p.Thr720Ala)
NM_176787.5(PIGN):c.2166A>G (p.Leu722=) rs1599505864
NM_176787.5(PIGN):c.2169T>G (p.Leu723=)
NM_176787.5(PIGN):c.2180+12T>C
NM_176787.5(PIGN):c.2180+1G>A
NM_176787.5(PIGN):c.2180+1G>C rs1568169374
NM_176787.5(PIGN):c.2180+20T>A
NM_176787.5(PIGN):c.2180+6A>C
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.2181-2A>G rs1453224514
NM_176787.5(PIGN):c.2181-4T>C
NM_176787.5(PIGN):c.2191C>T (p.Leu731Phe) rs754047821
NM_176787.5(PIGN):c.2193_2194del (p.Phe732fs) rs2033909461
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+14C>G
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+1dup rs2147616335
NM_176787.5(PIGN):c.221+7A>C rs759988883
NM_176787.5(PIGN):c.221+9G>A
NM_176787.5(PIGN):c.2213G>A (p.Cys738Tyr) rs764133639
NM_176787.5(PIGN):c.2216T>G (p.Leu739Trp) rs2146088249
NM_176787.5(PIGN):c.2218A>C (p.Met740Leu) rs2033907844
NM_176787.5(PIGN):c.222-12A>G
NM_176787.5(PIGN):c.222-17T>C
NM_176787.5(PIGN):c.222-1G>A
NM_176787.5(PIGN):c.222-4T>C
NM_176787.5(PIGN):c.222-9A>G rs1555696947
NM_176787.5(PIGN):c.2224G>T (p.Val742Phe)
NM_176787.5(PIGN):c.222G>A (p.Arg74=)
NM_176787.5(PIGN):c.2230A>G (p.Ile744Val) rs374860427
NM_176787.5(PIGN):c.2237_2238del (p.Ile746fs)
NM_176787.5(PIGN):c.2242C>G (p.Gln748Glu) rs61755363
NM_176787.5(PIGN):c.2251C>G (p.Leu751Val)
NM_176787.5(PIGN):c.2251_2252del (p.Leu751fs) rs1341720994
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.2264G>A (p.Gly755Asp) rs377599365
NM_176787.5(PIGN):c.2271_2283+1del rs2033903740
NM_176787.5(PIGN):c.2283+18T>C
NM_176787.5(PIGN):c.2283+8G>C
NM_176787.5(PIGN):c.2283G>A (p.Lys761=) rs780154131
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.2288C>T (p.Thr763Ile) rs2033831809
NM_176787.5(PIGN):c.228C>A (p.Ile76=)
NM_176787.5(PIGN):c.2290A>G (p.Ser764Gly) rs2033831520
NM_176787.5(PIGN):c.2292T>C (p.Ser764=)
NM_176787.5(PIGN):c.2293A>G (p.Ile765Val) rs974084659
NM_176787.5(PIGN):c.2298G>A (p.Gln766=)
NM_176787.5(PIGN):c.2305T>A (p.Tyr769Asn)
NM_176787.5(PIGN):c.2313T>C (p.Thr771=) rs2033829700
NM_176787.5(PIGN):c.2329C>T (p.Arg777Ter)
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+11T>A
NM_176787.5(PIGN):c.2370+13G>A
NM_176787.5(PIGN):c.2370+16A>G
NM_176787.5(PIGN):c.2370+1G>A
NM_176787.5(PIGN):c.2371-16C>T
NM_176787.5(PIGN):c.2371-17T>C
NM_176787.5(PIGN):c.2371-1G>C
NM_176787.5(PIGN):c.2371-1G>T rs778689280
NM_176787.5(PIGN):c.2371-2A>G
NM_176787.5(PIGN):c.2371-6C>A
NM_176787.5(PIGN):c.2371-7C>G rs2145962770
NM_176787.5(PIGN):c.2371G>A (p.Val791Ile) rs1204147408
NM_176787.5(PIGN):c.2371G>T (p.Val791Phe)
NM_176787.5(PIGN):c.237T>C (p.His79=)
NM_176787.5(PIGN):c.2389G>A (p.Ala797Thr)
NM_176787.5(PIGN):c.2391A>G (p.Ala797=)
NM_176787.5(PIGN):c.2397dup (p.Gly800fs) rs867437443
NM_176787.5(PIGN):c.2399G>A (p.Gly800Glu)
NM_176787.5(PIGN):c.2405G>A (p.Gly802Glu) rs2145961934
NM_176787.5(PIGN):c.2408A>G (p.Asn803Ser) rs2145961829
NM_176787.5(PIGN):c.2411T>C (p.Ile804Thr) rs199672087
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys) rs1555679237
NM_176787.5(PIGN):c.2423dup (p.Asn808fs) rs2145961535
NM_176787.5(PIGN):c.2426+13G>T
NM_176787.5(PIGN):c.2426+1G>T rs1458045074
NM_176787.5(PIGN):c.2426+20G>T
NM_176787.5(PIGN):c.2426+2T>G
NM_176787.5(PIGN):c.2427-11T>C
NM_176787.5(PIGN):c.2427-12A>G
NM_176787.5(PIGN):c.2427-14T>A
NM_176787.5(PIGN):c.2427-16T>G
NM_176787.5(PIGN):c.2427-17T>G
NM_176787.5(PIGN):c.2427-1G>A
NM_176787.5(PIGN):c.2427-1G>T
NM_176787.5(PIGN):c.2427-20dup rs754102116
NM_176787.5(PIGN):c.2427-4C>T rs1323419258
NM_176787.5(PIGN):c.2437G>A (p.Ala813Thr)
NM_176787.5(PIGN):c.2441_2442del (p.Ser814fs) rs2033603128
NM_176787.5(PIGN):c.2443_2450del (p.Val815fs) rs2033602281
NM_176787.5(PIGN):c.2447A>C (p.Tyr816Ser) rs200750917
NM_176787.5(PIGN):c.2455C>T (p.Leu819=) rs1190711274
NM_176787.5(PIGN):c.2460T>C (p.Thr820=)
NM_176787.5(PIGN):c.2463_2464del (p.Phe822fs)
NM_176787.5(PIGN):c.2469T>A (p.Ser823Arg) rs1248101858
NM_176787.5(PIGN):c.246C>T (p.Ser82=)
NM_176787.5(PIGN):c.2470C>G (p.Pro824Ala)
NM_176787.5(PIGN):c.2475T>G (p.Phe825Leu) rs1599479822
NM_176787.5(PIGN):c.2476A>G (p.Met826Val)
NM_176787.5(PIGN):c.2482G>T (p.Gly828Ter)
NM_176787.5(PIGN):c.2485G>A (p.Ala829Thr) rs1365364213
NM_176787.5(PIGN):c.2486C>A (p.Ala829Asp) rs375027313
NM_176787.5(PIGN):c.2489T>C (p.Leu830Pro)
NM_176787.5(PIGN):c.2490G>T (p.Leu830=) rs2145944475
NM_176787.5(PIGN):c.2498G>A (p.Trp833Ter)
NM_176787.5(PIGN):c.24del (p.Leu9fs)
NM_176787.5(PIGN):c.2501A>G (p.Lys834Arg)
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+1G>A
NM_176787.5(PIGN):c.2502+1G>T
NM_176787.5(PIGN):c.2502+5G>T
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.2503-2A>G
NM_176787.5(PIGN):c.2503-3C>T
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.2522T>C (p.Leu841Pro) rs2145912279
NM_176787.5(PIGN):c.2535T>C (p.Ala845=)
NM_176787.5(PIGN):c.2551T>C (p.Leu851=)
NM_176787.5(PIGN):c.2555C>T (p.Thr852Ile) rs2145911723
NM_176787.5(PIGN):c.2558_2561dup (p.Gln854fs) rs1028320933
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.2575del (p.Ser859fs)
NM_176787.5(PIGN):c.2576+12T>C
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.2576+3A>C
NM_176787.5(PIGN):c.2576G>C (p.Ser859Thr)
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.2577-1G>A rs2033087760
NM_176787.5(PIGN):c.2577-4C>T
NM_176787.5(PIGN):c.2577-4_2577-3insA
NM_176787.5(PIGN):c.2577-5del rs138671843
NM_176787.5(PIGN):c.2577C>A (p.Ser859Arg) rs545600957
NM_176787.5(PIGN):c.2577C>G (p.Ser859Arg) rs545600957
NM_176787.5(PIGN):c.2583_2584insTC (p.Leu862fs) rs1599458847
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.2606A>G (p.Asp869Gly)
NM_176787.5(PIGN):c.2615C>G (p.Ala872Gly)
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.2619+5G>A
NM_176787.5(PIGN):c.2619+7C>T
NM_176787.5(PIGN):c.2620-14T>G
NM_176787.5(PIGN):c.2620-17_2620-15dup rs11437076
NM_176787.5(PIGN):c.2620-17_2620-16dup 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.2620-1G>A rs759453664
NM_176787.5(PIGN):c.2620-2A>G rs1568143319
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.2620-6_2620-5insTC rs776271606
NM_176787.5(PIGN):c.2620C>A (p.His874Asn)
NM_176787.5(PIGN):c.2624T>G (p.Phe875Cys) rs1568143271
NM_176787.5(PIGN):c.2635G>A (p.Val879Ile) rs770276209
NM_176787.5(PIGN):c.2636T>C (p.Val879Ala)
NM_176787.5(PIGN):c.2637C>T (p.Val879=) rs2145718423
NM_176787.5(PIGN):c.2644_2645insTGCC (p.Tyr882fs) rs2032950736
NM_176787.5(PIGN):c.2646_2647insA (p.Gly883fs)
NM_176787.5(PIGN):c.2647G>A (p.Gly883Ser) rs777254701
NM_176787.5(PIGN):c.2651G>T (p.Ser884Ile) rs2145718009
NM_176787.5(PIGN):c.2655G>C (p.Trp885Cys)
NM_176787.5(PIGN):c.2655del (p.Trp885fs)
NM_176787.5(PIGN):c.2666G>T (p.Gly889Val)
NM_176787.5(PIGN):c.2672+13T>C
NM_176787.5(PIGN):c.2672+16del
NM_176787.5(PIGN):c.2672+1G>T rs1287655964
NM_176787.5(PIGN):c.2672+4T>C rs2145717253
NM_176787.5(PIGN):c.2672+7T>C rs2145717132
NM_176787.5(PIGN):c.2673-20A>G
NM_176787.5(PIGN):c.2674A>G (p.Ile892Val) rs1008196906
NM_176787.5(PIGN):c.2684A>G (p.Tyr895Cys)
NM_176787.5(PIGN):c.2691T>A (p.Ile897=)
NM_176787.5(PIGN):c.2693T>C (p.Val898Ala) rs932238722
NM_176787.5(PIGN):c.26T>G (p.Leu9Trp) rs973223435
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.2737C>T (p.Gln913Ter)
NM_176787.5(PIGN):c.273A>G (p.Pro91=) rs368198964
NM_176787.5(PIGN):c.273A>T (p.Pro91=)
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.2771del (p.Gly924fs) rs2144983983
NM_176787.5(PIGN):c.2776C>A (p.Pro926Thr)
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.285G>A (p.Arg95=)
NM_176787.5(PIGN):c.285G>T (p.Arg95=)
NM_176787.5(PIGN):c.288A>C (p.Pro96=) rs1599654908
NM_176787.5(PIGN):c.288A>T (p.Pro96=)
NM_176787.5(PIGN):c.298G>A (p.Ala100Thr)
NM_176787.5(PIGN):c.310G>A (p.Gly104Arg)
NM_176787.5(PIGN):c.310G>C (p.Gly104Arg) rs1555696900
NM_176787.5(PIGN):c.323A>G (p.Asp108Gly) rs1568240456
NM_176787.5(PIGN):c.324_549+196del
NM_176787.5(PIGN):c.328_549+1908del
NM_176787.5(PIGN):c.329_549+1907del
NM_176787.5(PIGN):c.329_549+1908del
NM_176787.5(PIGN):c.333A>G (p.Ala111=)
NM_176787.5(PIGN):c.339C>G (p.Ala113=)
NM_176787.5(PIGN):c.343+10A>G
NM_176787.5(PIGN):c.343+14G>A rs777575965
NM_176787.5(PIGN):c.343+16A>G
NM_176787.5(PIGN):c.343+1G>A
NM_176787.5(PIGN):c.343+2T>C
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.344-1G>A rs776568529
NM_176787.5(PIGN):c.344-2A>C rs2147517939
NM_176787.5(PIGN):c.344-5T>C rs2147517964
NM_176787.5(PIGN):c.347G>A (p.Trp116Ter) rs2147517821
NM_176787.5(PIGN):c.351G>A (p.Lys117=)
NM_176787.5(PIGN):c.362T>C (p.Val121Ala) rs771455717
NM_176787.5(PIGN):c.365A>C (p.Glu122Ala)
NM_176787.5(PIGN):c.369T>C (p.Phe123=)
NM_176787.5(PIGN):c.370G>A (p.Asp124Asn) rs2147517284
NM_176787.5(PIGN):c.371A>T (p.Asp124Val) rs1555696809
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro) rs1599653706
NM_176787.5(PIGN):c.397A>T (p.Thr133Ser) rs2036767331
NM_176787.5(PIGN):c.399A>G (p.Thr133=)
NM_176787.5(PIGN):c.404G>A (p.Ser135Asn) rs2036766943
NM_176787.5(PIGN):c.407G>A (p.Trp136Ter) rs1215392490
NM_176787.5(PIGN):c.408G>A (p.Trp136Ter)
NM_176787.5(PIGN):c.419A>G (p.Asp140Gly) rs2147516022
NM_176787.5(PIGN):c.421dup (p.Ile141fs) rs1555696769
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.437C>T (p.Ala146Val) rs2036765374
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+16T>G
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.443G>T (p.Gly148Val) rs2036657789
NM_176787.5(PIGN):c.444T>C (p.Gly148=)
NM_176787.5(PIGN):c.444T>G (p.Gly148=)
NM_176787.5(PIGN):c.457C>T (p.His153Tyr) rs1358106061
NM_176787.5(PIGN):c.45C>G (p.Phe15Leu) rs572483363
NM_176787.5(PIGN):c.460G>C (p.Val154Leu) rs181730303
NM_176787.5(PIGN):c.462T>C (p.Val154=)
NM_176787.5(PIGN):c.465T>A (p.Tyr155Ter)
NM_176787.5(PIGN):c.466A>G (p.Thr156Ala)
NM_176787.5(PIGN):c.469T>C (p.Tyr157His) rs1555696260
NM_176787.5(PIGN):c.477T>C (p.Tyr159=)
NM_176787.5(PIGN):c.479A>G (p.Asp160Gly) rs2147455075
NM_176787.5(PIGN):c.482C>T (p.Ala161Val)
NM_176787.5(PIGN):c.489A>G (p.Arg163=)
NM_176787.5(PIGN):c.491_492del (p.Glu164fs) rs748817187
NM_176787.5(PIGN):c.492G>A (p.Glu164=)
NM_176787.5(PIGN):c.49G>A (p.Ala17Thr)
NM_176787.5(PIGN):c.507A>G (p.Gln169=)
NM_176787.5(PIGN):c.509A>G (p.Asp170Gly) rs2036653453
NM_176787.5(PIGN):c.519A>G (p.Lys173=)
NM_176787.5(PIGN):c.51C>G (p.Ala17=) rs370228697
NM_176787.5(PIGN):c.529T>C (p.Trp177Arg)
NM_176787.5(PIGN):c.530G>A (p.Trp177Ter)
NM_176787.5(PIGN):c.531G>A (p.Trp177Ter)
NM_176787.5(PIGN):c.531G>C (p.Trp177Cys) rs2147453642
NM_176787.5(PIGN):c.532G>A (p.Val178Ile)
NM_176787.5(PIGN):c.549+16T>C
NM_176787.5(PIGN):c.549+19T>G
NM_176787.5(PIGN):c.549+5G>T rs2036651321
NM_176787.5(PIGN):c.550-10T>A
NM_176787.5(PIGN):c.550-11G>C
NM_176787.5(PIGN):c.550-15A>G
NM_176787.5(PIGN):c.550-18C>T
NM_176787.5(PIGN):c.550-4G>C
NM_176787.5(PIGN):c.550-5T>C
NM_176787.5(PIGN):c.550-7T>C rs1036464453
NM_176787.5(PIGN):c.556T>C (p.Phe186Leu)
NM_176787.5(PIGN):c.562C>A (p.His188Asn) rs773629540
NM_176787.5(PIGN):c.563A>C (p.His188Pro)
NM_176787.5(PIGN):c.564T>C (p.His188=) rs1455926626
NM_176787.5(PIGN):c.565G>A (p.Ala189Thr) rs2147313473
NM_176787.5(PIGN):c.580T>G (p.Ser194Ala) rs2036409771
NM_176787.5(PIGN):c.587T>C (p.Phe196Ser) rs950233837
NM_176787.5(PIGN):c.597A>C (p.Ile199=)
NM_176787.5(PIGN):c.5T>C (p.Leu2Pro) rs1376351498
NM_176787.5(PIGN):c.601G>T (p.Glu201Ter)
NM_176787.5(PIGN):c.601_602insT (p.Glu201fs)
NM_176787.5(PIGN):c.602A>G (p.Glu201Gly) rs2036409134
NM_176787.5(PIGN):c.604_608del (p.Glu202fs)
NM_176787.5(PIGN):c.620del (p.Phe207fs) rs1237915292
NM_176787.5(PIGN):c.629T>G (p.Leu210Ter)
NM_176787.5(PIGN):c.637del (p.Gly212_Ile213insTer)
NM_176787.5(PIGN):c.646A>G (p.Asn216Asp) rs926013149
NM_176787.5(PIGN):c.654T>C (p.His218=)
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_176787.5(PIGN):c.657T>C (p.Ala219=)
NM_176787.5(PIGN):c.662G>A (p.Arg221Gln) rs375338906
NM_176787.5(PIGN):c.666A>G (p.Pro222=)
NM_176787.5(PIGN):c.670T>G (p.Ser224Ala)
NM_176787.5(PIGN):c.671C>T (p.Ser224Leu)
NM_176787.5(PIGN):c.674+11del
NM_176787.5(PIGN):c.674+15T>C
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_176787.5(PIGN):c.674+2T>A
NM_176787.5(PIGN):c.675-11T>C
NM_176787.5(PIGN):c.675-12C>G
NM_176787.5(PIGN):c.675-13T>C
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.675-1G>C
NM_176787.5(PIGN):c.675-20C>A
NM_176787.5(PIGN):c.675-20del
NM_176787.5(PIGN):c.675-2A>T
NM_176787.5(PIGN):c.675-9T>C
NM_176787.5(PIGN):c.679T>C (p.Tyr227His)
NM_176787.5(PIGN):c.696A>G (p.Lys232=)
NM_176787.5(PIGN):c.701T>C (p.Val234Ala) rs2036361184
NM_176787.5(PIGN):c.705T>C (p.Asp235=) rs1218953227
NM_176787.5(PIGN):c.713T>C (p.Val238Ala) rs1235256343
NM_176787.5(PIGN):c.718G>T (p.Glu240Ter)
NM_176787.5(PIGN):c.720A>C (p.Glu240Asp) rs1568228483
NM_176787.5(PIGN):c.723C>A (p.Ile241=)
NM_176787.5(PIGN):c.724G>T (p.Val242Leu) rs374310718
NM_176787.5(PIGN):c.725T>C (p.Val242Ala) rs2147288732
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.749G>A (p.Gly250Glu)
NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)
NM_176787.5(PIGN):c.755A>T (p.Asp252Val) rs886039216
NM_176787.5(PIGN):c.757G>T (p.Gly253Trp) rs2036357142
NM_176787.5(PIGN):c.766A>G (p.Thr256Ala) rs2147287643
NM_176787.5(PIGN):c.768A>G (p.Thr256=)
NM_176787.5(PIGN):c.76T>C (p.Ser26Pro) rs183421871
NM_176787.5(PIGN):c.772A>G (p.Ile258Val) rs1310594802
NM_176787.5(PIGN):c.77C>G (p.Ser26Cys) rs2036943552
NM_176787.5(PIGN):c.786C>T (p.Asp262=)
NM_176787.5(PIGN):c.788A>G (p.His263Arg) rs769911366
NM_176787.5(PIGN):c.804G>T (p.Trp268Cys) rs1057520345
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+3del rs1383620062
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.806-1G>C
NM_176787.5(PIGN):c.806-2A>T
NM_176787.5(PIGN):c.806-4_808del
NM_176787.5(PIGN):c.806-5del rs2147270911
NM_176787.5(PIGN):c.806G>T (p.Gly269Val) rs1555694236
NM_176787.5(PIGN):c.808T>C (p.Ser270Pro) rs587777186
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.817dup (p.Ala273fs)
NM_176787.5(PIGN):c.831A>G (p.Ser277=)
NM_176787.5(PIGN):c.842C>G (p.Thr281Ser)
NM_176787.5(PIGN):c.844C>G (p.Pro282Ala)
NM_176787.5(PIGN):c.852C>T (p.Val284=) rs2147270078
NM_176787.5(PIGN):c.853A>C (p.Thr285Pro)
NM_176787.5(PIGN):c.854C>T (p.Thr285Ile)
NM_176787.5(PIGN):c.855T>A (p.Thr285=)
NM_176787.5(PIGN):c.858G>A (p.Trp286Ter)
NM_176787.5(PIGN):c.861A>G (p.Gly287=)
NM_176787.5(PIGN):c.880C>G (p.Gln294Glu) rs374267642
NM_176787.5(PIGN):c.885A>C (p.Arg295Ser) rs2147269468
NM_176787.5(PIGN):c.886G>A (p.Val296Ile) rs896407938
NM_176787.5(PIGN):c.888A>G (p.Val296=) rs1424590889
NM_176787.5(PIGN):c.891A>C (p.Ser297=)
NM_176787.5(PIGN):c.895C>T (p.Gln299Ter)
NM_176787.5(PIGN):c.903T>C (p.Phe301=)
NM_176787.5(PIGN):c.905A>T (p.Asp302Val) rs1478856956
NM_176787.5(PIGN):c.90T>C (p.His30=)
NM_176787.5(PIGN):c.910G>A (p.Ala304Thr)
NM_176787.5(PIGN):c.912A>C (p.Ala304=)
NM_176787.5(PIGN):c.912A>G (p.Ala304=)
NM_176787.5(PIGN):c.917dup (p.Leu306fs)
NM_176787.5(PIGN):c.922+13_922+16del rs144114585
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.922+2T>C
NM_176787.5(PIGN):c.922+8C>A
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.923-1G>A rs1000602230
NM_176787.5(PIGN):c.923-1G>T
NM_176787.5(PIGN):c.923-6T>G rs2147221657
NM_176787.5(PIGN):c.93A>T (p.Gly31=) rs2036942488
NM_176787.5(PIGN):c.941G>A (p.Trp314Ter)
NM_176787.5(PIGN):c.951A>C (p.Leu317=)
NM_176787.5(PIGN):c.951A>T (p.Leu317=)
NM_176787.5(PIGN):c.953A>T (p.Asp318Val) rs1599620627
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+18A>G
NM_176787.5(PIGN):c.963+1G>T rs1568224018
NM_176787.5(PIGN):c.963+2T>C
NM_176787.5(PIGN):c.963+5C>A rs2036202111
NM_176787.5(PIGN):c.963+5C>T rs2036202111
NM_176787.5(PIGN):c.963+6C>T rs2036201999
NM_176787.5(PIGN):c.963+7A>G
NM_176787.5(PIGN):c.964-17A>G
NM_176787.5(PIGN):c.964-9dup rs2147171105
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.981G>A (p.Leu327=)
NM_176787.5(PIGN):c.990C>G (p.Ser330=)
NM_176787.5(PIGN):c.993T>C (p.Leu331=)
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=)
NM_176787.5(PIGN):c.[1251+1G>T;2399G>A]

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