ClinVar Miner

List of variants in gene PIGN reported as uncertain significance for Multiple congenital anomalies-hypotonia-seizures syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.1387A>G (p.Ile463Val) rs201027656 0.00019
NM_176787.5(PIGN):c.253A>G (p.Ile85Val) rs202066215 0.00018
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.2447A>G (p.Tyr816Cys) rs200750917 0.00012
NM_176787.5(PIGN):c.139G>C (p.Val47Leu) rs375744259 0.00011
NM_176787.5(PIGN):c.2707A>G (p.Ile903Val) rs747799115 0.00011
NM_176787.5(PIGN):c.2413G>A (p.Ala805Thr) rs771022458 0.00010
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg) rs775932562 0.00009
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.1276C>A (p.His426Asn) rs550779204 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.1486G>A (p.Ala496Thr) rs368439210 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.2092G>A (p.Val698Met) rs369249247 0.00006
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.1365A>G (p.Ile455Met) rs773897013 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.1826C>T (p.Pro609Leu) rs371792847 0.00004
NM_176787.5(PIGN):c.1984C>T (p.Leu662Phe) rs377552386 0.00004
NM_176787.5(PIGN):c.2191C>G (p.Leu731Val) rs754047821 0.00004
NM_176787.5(PIGN):c.2203G>A (p.Val735Met) rs751485479 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.1145C>A (p.Thr382Asn) rs756101712 0.00003
NM_176787.5(PIGN):c.117G>T (p.Leu39Phe) rs986148241 0.00003
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr) rs370794466 0.00003
NM_176787.5(PIGN):c.1418T>C (p.Val473Ala) rs922043983 0.00003
NM_176787.5(PIGN):c.1442G>A (p.Ser481Asn) rs763149264 0.00003
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly) rs745318716 0.00003
NM_176787.5(PIGN):c.2283+3A>G rs1456523787 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.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.884G>T (p.Arg295Ile) rs377036162 0.00003
NM_176787.5(PIGN):c.959A>G (p.Asn320Ser) rs936914222 0.00003
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.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.16A>T (p.Thr6Ser) rs1231914665 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.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.2312C>T (p.Thr771Ile) rs748649004 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.2768G>C (p.Cys923Ser) rs369297861 0.00002
NM_176787.5(PIGN):c.414C>G (p.Ser138Arg) rs780427906 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.1202T>G (p.Ile401Ser) rs2035017172 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.1278T>A (p.His426Gln) rs1289460027 0.00001
NM_176787.5(PIGN):c.128C>T (p.Ala43Val) rs759600092 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.1369T>G (p.Tyr457Asp) rs374735293 0.00001
NM_176787.5(PIGN):c.1379T>C (p.Leu460Ser) rs1250732619 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.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.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.2119T>C (p.Phe707Leu) rs188842844 0.00001
NM_176787.5(PIGN):c.212C>T (p.Pro71Leu) rs753014750 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.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.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.2701A>G (p.Met901Val) rs771767518 0.00001
NM_176787.5(PIGN):c.2721C>G (p.Phe907Leu) rs780384079 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.366G>C (p.Glu122Asp) rs995354792 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.433T>C (p.Phe145Leu) rs879837156 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.562C>T (p.His188Tyr) rs773629540 0.00001
NM_176787.5(PIGN):c.610A>G (p.Ile204Val) rs1353757700 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.808T>A (p.Ser270Thr) rs587777186 0.00001
NM_176787.5(PIGN):c.873G>C (p.Lys291Asn) rs755735717 0.00001
NM_176787.5(PIGN):c.94A>G (p.Met32Val) rs763448928 0.00001
NM_176787.5(PIGN):c.970A>G (p.Ile324Val) rs2036093894 0.00001
NM_176787.5(PIGN):c.994A>G (p.Ile332Val) rs373045834 0.00001
NC_000018.9:g.(?_59780347)_(59828586_?)dup
NM_176787.5(PIGN):c.1004C>T (p.Pro335Leu) rs753868318
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.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.1113C>G (p.Phe371Leu) rs1212978837
NM_176787.5(PIGN):c.1116+3A>G rs760033956
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.1151C>T (p.Pro384Leu) rs750379967
NM_176787.5(PIGN):c.1166C>T (p.Pro389Leu)
NM_176787.5(PIGN):c.1196T>G (p.Phe399Cys)
NM_176787.5(PIGN):c.1207A>G (p.Arg403Gly) rs755903091
NM_176787.5(PIGN):c.1217G>C (p.Arg406Thr) rs1444744679
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.1252-7T>G rs2146580626
NM_176787.5(PIGN):c.1253T>C (p.Val418Ala) rs2146580404
NM_176787.5(PIGN):c.1262G>A (p.Cys421Tyr)
NM_176787.5(PIGN):c.1280T>C (p.Leu427Pro) rs748351289
NM_176787.5(PIGN):c.1301A>G (p.Tyr434Cys)
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del) rs1568244811
NM_176787.5(PIGN):c.1312T>A (p.Tyr438Asn)
NM_176787.5(PIGN):c.1313A>G (p.Tyr438Cys) rs2034954477
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.1375T>C (p.Ser459Pro)
NM_176787.5(PIGN):c.1384A>G (p.Ile462Val)
NM_176787.5(PIGN):c.1408A>G (p.Ile470Val) rs3862712
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+4C>T rs1451476667
NM_176787.5(PIGN):c.1434G>A (p.Lys478=) rs1336408586
NM_176787.5(PIGN):c.1469C>T (p.Ala490Val)
NM_176787.5(PIGN):c.1472T>C (p.Ile491Thr)
NM_176787.5(PIGN):c.1508C>A (p.Ala503Asp)
NM_176787.5(PIGN):c.1508C>T (p.Ala503Val) rs1422620353
NM_176787.5(PIGN):c.1514C>T (p.Pro505Leu) rs2034807385
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.1575-4A>G rs1359611690
NM_176787.5(PIGN):c.1589A>G (p.Gln530Arg)
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) rs1599663316
NM_176787.5(PIGN):c.1627C>T (p.His543Tyr) rs1599535609
NM_176787.5(PIGN):c.1637G>A (p.Gly546Glu)
NM_176787.5(PIGN):c.1678C>T (p.Leu560Phe) rs2146436684
NM_176787.5(PIGN):c.1683T>A (p.Ser561Arg)
NM_176787.5(PIGN):c.1688T>C (p.Phe563Ser) rs1484374045
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1729G>C (p.Ala577Pro) rs1455253954
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.1756A>G (p.Thr586Ala)
NM_176787.5(PIGN):c.1760G>A (p.Arg587Gln)
NM_176787.5(PIGN):c.1767G>A (p.Lys589=) rs2034656569
NM_176787.5(PIGN):c.181G>A (p.Glu61Lys) rs200199765
NM_176787.5(PIGN):c.1820T>G (p.Leu607Arg) rs2146406479
NM_176787.5(PIGN):c.1835G>A (p.Gly612Asp) rs776827487
NM_176787.5(PIGN):c.1853C>T (p.Ser618Phe) rs1599531404
NM_176787.5(PIGN):c.1859+4T>C rs2034603525
NM_176787.5(PIGN):c.1862T>A (p.Met621Lys)
NM_176787.5(PIGN):c.1871G>T (p.Gly624Val) rs1346060513
NM_176787.5(PIGN):c.187G>C (p.Asp63His) rs2147616774
NM_176787.5(PIGN):c.1903G>A (p.Val635Ile)
NM_176787.5(PIGN):c.1928A>G (p.Asp643Gly)
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.1962_1963delinsAG (p.Leu655Val) rs2146347857
NM_176787.5(PIGN):c.1965A>C (p.Leu655Phe)
NM_176787.5(PIGN):c.1967A>G (p.Gln656Arg) rs1338840913
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.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.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.2126G>T (p.Arg709Leu)
NM_176787.5(PIGN):c.2180+6A>C
NM_176787.5(PIGN):c.2191C>T (p.Leu731Phe) rs754047821
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.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.2242C>G (p.Gln748Glu) rs61755363
NM_176787.5(PIGN):c.2251C>G (p.Leu751Val)
NM_176787.5(PIGN):c.2264G>A (p.Gly755Asp) rs377599365
NM_176787.5(PIGN):c.2283G>A (p.Lys761=) rs780154131
NM_176787.5(PIGN):c.2288C>T (p.Thr763Ile) rs2033831809
NM_176787.5(PIGN):c.2290A>G (p.Ser764Gly) rs2033831520
NM_176787.5(PIGN):c.2293A>G (p.Ile765Val) rs974084659
NM_176787.5(PIGN):c.2305T>A (p.Tyr769Asn)
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.2389G>A (p.Ala797Thr)
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.2427-14T>A
NM_176787.5(PIGN):c.2427-16T>G
NM_176787.5(PIGN):c.2427-17T>G
NM_176787.5(PIGN):c.2437G>A (p.Ala813Thr)
NM_176787.5(PIGN):c.2447A>C (p.Tyr816Ser) rs200750917
NM_176787.5(PIGN):c.2469T>A (p.Ser823Arg) rs1248101858
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.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.2501A>G (p.Lys834Arg)
NM_176787.5(PIGN):c.2502+5G>T
NM_176787.5(PIGN):c.2503-3C>T
NM_176787.5(PIGN):c.2522T>C (p.Leu841Pro) rs2145912279
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.2576+3A>C
NM_176787.5(PIGN):c.2576G>C (p.Ser859Thr)
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.2606A>G (p.Asp869Gly)
NM_176787.5(PIGN):c.2615C>G (p.Ala872Gly)
NM_176787.5(PIGN):c.2619+5G>A
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.2644_2645insTGCC (p.Tyr882fs) rs2032950736
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.2666G>T (p.Gly889Val)
NM_176787.5(PIGN):c.2672+1G>T rs1287655964
NM_176787.5(PIGN):c.2672+4T>C rs2145717253
NM_176787.5(PIGN):c.2674A>G (p.Ile892Val) rs1008196906
NM_176787.5(PIGN):c.2684A>G (p.Tyr895Cys)
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.2737C>T (p.Gln913Ter)
NM_176787.5(PIGN):c.2771del (p.Gly924fs) rs2144983983
NM_176787.5(PIGN):c.2776C>A (p.Pro926Thr)
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.362T>C (p.Val121Ala) rs771455717
NM_176787.5(PIGN):c.365A>C (p.Glu122Ala)
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.404G>A (p.Ser135Asn) rs2036766943
NM_176787.5(PIGN):c.419A>G (p.Asp140Gly) rs2147516022
NM_176787.5(PIGN):c.437C>T (p.Ala146Val) rs2036765374
NM_176787.5(PIGN):c.443G>T (p.Gly148Val) rs2036657789
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.466A>G (p.Thr156Ala)
NM_176787.5(PIGN):c.469T>C (p.Tyr157His) rs1555696260
NM_176787.5(PIGN):c.479A>G (p.Asp160Gly) rs2147455075
NM_176787.5(PIGN):c.482C>T (p.Ala161Val)
NM_176787.5(PIGN):c.49G>A (p.Ala17Thr)
NM_176787.5(PIGN):c.509A>G (p.Asp170Gly) rs2036653453
NM_176787.5(PIGN):c.529T>C (p.Trp177Arg)
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+5G>T rs2036651321
NM_176787.5(PIGN):c.550-10T>A
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.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.5T>C (p.Leu2Pro) rs1376351498
NM_176787.5(PIGN):c.602A>G (p.Glu201Gly) rs2036409134
NM_176787.5(PIGN):c.646A>G (p.Asn216Asp) rs926013149
NM_176787.5(PIGN):c.662G>A (p.Arg221Gln) rs375338906
NM_176787.5(PIGN):c.670T>G (p.Ser224Ala)
NM_176787.5(PIGN):c.671C>T (p.Ser224Leu)
NM_176787.5(PIGN):c.679T>C (p.Tyr227His)
NM_176787.5(PIGN):c.701T>C (p.Val234Ala) rs2036361184
NM_176787.5(PIGN):c.713T>C (p.Val238Ala) rs1235256343
NM_176787.5(PIGN):c.720A>C (p.Glu240Asp) rs1568228483
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.749G>A (p.Gly250Glu)
NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)
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.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.788A>G (p.His263Arg) rs769911366
NM_176787.5(PIGN):c.805+3del rs1383620062
NM_176787.5(PIGN):c.806G>T (p.Gly269Val) rs1555694236
NM_176787.5(PIGN):c.842C>G (p.Thr281Ser)
NM_176787.5(PIGN):c.844C>G (p.Pro282Ala)
NM_176787.5(PIGN):c.853A>C (p.Thr285Pro)
NM_176787.5(PIGN):c.854C>T (p.Thr285Ile)
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.905A>T (p.Asp302Val) rs1478856956
NM_176787.5(PIGN):c.910G>A (p.Ala304Thr)
NM_176787.5(PIGN):c.953A>T (p.Asp318Val) rs1599620627
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.[1251+1G>T;2399G>A]

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