ClinVar Miner

List of variants in gene PIGO reported as uncertain significance for hyperphosphatasia with intellectual disability syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 483
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser) rs138028827 0.00084
NM_032634.4(PIGO):c.*221G>A rs1056995769 0.00081
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_032634.4(PIGO):c.969T>G (p.Leu323=) rs142658052 0.00032
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_032634.4(PIGO):c.794G>A (p.Arg265His) rs200924324 0.00024
NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys) rs376829041 0.00020
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe) rs746870615 0.00016
NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser) rs372802683 0.00016
NM_032634.4(PIGO):c.1309G>A (p.Ala437Thr) rs371896003 0.00013
NM_032634.4(PIGO):c.1891T>G (p.Cys631Gly) rs371800398 0.00013
NM_032634.4(PIGO):c.253C>A (p.Pro85Thr) rs745754359 0.00013
NM_032634.4(PIGO):c.3070-12C>G rs199864376 0.00013
NM_032634.4(PIGO):c.676G>A (p.Val226Met) rs767554501 0.00013
NM_032634.4(PIGO):c.*219G>A rs546029434 0.00012
NM_032634.4(PIGO):c.394A>G (p.Met132Val) rs772678647 0.00010
NM_032634.4(PIGO):c.2287G>T (p.Val763Leu) rs146576650 0.00009
NM_032634.4(PIGO):c.2024C>T (p.Ala675Val) rs567641477 0.00008
NM_032634.4(PIGO):c.257A>G (p.Gln86Arg) rs112670103 0.00007
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_032634.4(PIGO):c.*251C>T rs981140184 0.00006
NM_032634.4(PIGO):c.*61C>T rs886063903 0.00006
NM_032634.4(PIGO):c.1864C>A (p.Leu622Met) rs149262338 0.00006
NM_032634.4(PIGO):c.2908C>T (p.Arg970Trp) rs748546962 0.00006
NM_032634.4(PIGO):c.581T>G (p.Phe194Cys) rs61755365 0.00006
NM_032634.4(PIGO):c.*372A>T rs886063902 0.00005
NM_032634.4(PIGO):c.1288C>G (p.Gln430Glu) rs375108991 0.00005
NM_032634.4(PIGO):c.2191C>T (p.Arg731Cys) rs148341577 0.00005
NM_032634.4(PIGO):c.2617C>G (p.Leu873Val) rs542956681 0.00005
NM_032634.4(PIGO):c.268G>A (p.Val90Met) rs142276590 0.00005
NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu) rs749274989 0.00004
NM_032634.4(PIGO):c.1298G>A (p.Arg433Gln) rs201911029 0.00004
NM_032634.4(PIGO):c.1456C>T (p.Pro486Ser) rs766397462 0.00004
NM_032634.4(PIGO):c.1487C>T (p.Ala496Val) rs763688561 0.00004
NM_032634.4(PIGO):c.1810C>T (p.Arg604Cys) rs368997214 0.00004
NM_032634.4(PIGO):c.1841C>T (p.Pro614Leu) rs749184960 0.00004
NM_032634.4(PIGO):c.1843C>T (p.Arg615Trp) rs375787674 0.00004
NM_032634.4(PIGO):c.2053C>T (p.Arg685Cys) rs138547909 0.00004
NM_032634.4(PIGO):c.2522C>T (p.Thr841Ile) rs371089504 0.00004
NM_032634.4(PIGO):c.2807C>G (p.Ala936Gly) rs375724131 0.00004
NM_032634.4(PIGO):c.2839C>T (p.His947Tyr) rs769624406 0.00004
NM_032634.4(PIGO):c.2989C>T (p.Arg997Trp) rs773926580 0.00004
NM_032634.4(PIGO):c.3002C>T (p.Ala1001Val) rs149391665 0.00004
NM_032634.4(PIGO):c.3104G>A (p.Arg1035His) rs763001837 0.00004
NM_032634.4(PIGO):c.3230G>C (p.Ser1077Thr) rs150257961 0.00004
NM_032634.4(PIGO):c.325A>T (p.Arg109Trp) rs144631345 0.00004
NM_032634.4(PIGO):c.339T>G (p.Ile113Met) rs370330559 0.00004
NM_032634.4(PIGO):c.34T>C (p.Trp12Arg) rs779967894 0.00004
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln) rs756043994 0.00004
NM_032634.4(PIGO):c.401G>A (p.Arg134His) rs754686515 0.00004
NM_032634.4(PIGO):c.468C>T (p.His156=) rs374876329 0.00004
NM_032634.4(PIGO):c.575A>G (p.Lys192Arg) rs138004232 0.00004
NM_032634.4(PIGO):c.662G>C (p.Ser221Thr) rs754088095 0.00004
NM_032634.4(PIGO):c.1187T>A (p.Leu396Gln) rs146501297 0.00003
NM_032634.4(PIGO):c.1522C>G (p.Leu508Val) rs1398099043 0.00003
NM_032634.4(PIGO):c.157G>A (p.Gly53Arg) rs1361264867 0.00003
NM_032634.4(PIGO):c.158G>A (p.Gly53Glu) rs750495026 0.00003
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_032634.4(PIGO):c.2186C>T (p.Pro729Leu) rs140561049 0.00003
NM_032634.4(PIGO):c.2267C>T (p.Ala756Val) rs757452987 0.00003
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) rs140470862 0.00003
NM_032634.4(PIGO):c.2854+7C>A rs768338180 0.00003
NM_032634.4(PIGO):c.2909G>A (p.Arg970Gln) rs781623319 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_032634.4(PIGO):c.356G>A (p.Arg119Gln) rs753918558 0.00003
NM_032634.4(PIGO):c.655+6C>T rs901654668 0.00003
NM_032634.4(PIGO):c.1069C>T (p.His357Tyr) rs141121202 0.00002
NM_032634.4(PIGO):c.1127G>A (p.Arg376Gln) rs768552303 0.00002
NM_032634.4(PIGO):c.1459G>A (p.Val487Met) rs762885128 0.00002
NM_032634.4(PIGO):c.1460T>C (p.Val487Ala) rs750242299 0.00002
NM_032634.4(PIGO):c.1619C>A (p.Ala540Glu) rs1488869656 0.00002
NM_032634.4(PIGO):c.1721C>G (p.Pro574Arg) rs558371613 0.00002
NM_032634.4(PIGO):c.1723T>G (p.Phe575Val) rs769087057 0.00002
NM_032634.4(PIGO):c.17T>C (p.Val6Ala) rs767770355 0.00002
NM_032634.4(PIGO):c.1831A>G (p.Thr611Ala) rs774281466 0.00002
NM_032634.4(PIGO):c.2066G>A (p.Arg689His) rs771748735 0.00002
NM_032634.4(PIGO):c.236G>A (p.Arg79Gln) rs759013444 0.00002
NM_032634.4(PIGO):c.2383T>C (p.Tyr795His) rs760038249 0.00002
NM_032634.4(PIGO):c.3113T>G (p.Leu1038Arg) rs761199326 0.00002
NM_032634.4(PIGO):c.3178G>A (p.Val1060Met) rs551920425 0.00002
NM_032634.4(PIGO):c.599A>G (p.Asn200Ser) rs755621448 0.00002
NM_032634.4(PIGO):c.646T>C (p.Tyr216His) rs372754217 0.00002
NM_032634.4(PIGO):c.859G>A (p.Gly287Arg) rs780295527 0.00002
NM_032634.4(PIGO):c.1046C>T (p.Ser349Leu) rs371657025 0.00001
NM_032634.4(PIGO):c.1049G>C (p.Gly350Ala) rs368691880 0.00001
NM_032634.4(PIGO):c.1136A>C (p.His379Pro) rs1285901155 0.00001
NM_032634.4(PIGO):c.113A>G (p.His38Arg) rs993053284 0.00001
NM_032634.4(PIGO):c.1151C>T (p.Ala384Val) rs745507962 0.00001
NM_032634.4(PIGO):c.1177C>T (p.Leu393Phe) rs748782878 0.00001
NM_032634.4(PIGO):c.1199T>C (p.Phe400Ser) rs1322962283 0.00001
NM_032634.4(PIGO):c.1255G>A (p.Ala419Thr) rs879658217 0.00001
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val) rs777439274 0.00001
NM_032634.4(PIGO):c.1283T>A (p.Leu428Gln) rs182396158 0.00001
NM_032634.4(PIGO):c.1307G>A (p.Arg436Gln) rs772960218 0.00001
NM_032634.4(PIGO):c.1321G>A (p.Glu441Lys) rs148970282 0.00001
NM_032634.4(PIGO):c.1333C>T (p.Arg445Cys) rs779260324 0.00001
NM_032634.4(PIGO):c.1348C>T (p.Arg450Cys) rs756670230 0.00001
NM_032634.4(PIGO):c.1355C>T (p.Ala452Val) rs767418527 0.00001
NM_032634.4(PIGO):c.1363A>G (p.Thr455Ala) rs766309374 0.00001
NM_032634.4(PIGO):c.1367C>T (p.Ala456Val) rs202109643 0.00001
NM_032634.4(PIGO):c.1369C>G (p.Leu457Val) rs769460289 0.00001
NM_032634.4(PIGO):c.1416A>T (p.Ala472=) rs749630366 0.00001
NM_032634.4(PIGO):c.1441C>T (p.Pro481Ser) rs146556990 0.00001
NM_032634.4(PIGO):c.1526A>T (p.Asp509Val) rs1307463691 0.00001
NM_032634.4(PIGO):c.1549G>A (p.Ala517Thr) rs781222643 0.00001
NM_032634.4(PIGO):c.1607A>G (p.Lys536Arg) rs559748160 0.00001
NM_032634.4(PIGO):c.1612C>G (p.Pro538Ala) rs763462649 0.00001
NM_032634.4(PIGO):c.1618G>C (p.Ala540Pro) rs1404216766 0.00001
NM_032634.4(PIGO):c.1622C>T (p.Thr541Ile) rs748438924 0.00001
NM_032634.4(PIGO):c.1708G>A (p.Ala570Thr) rs767046819 0.00001
NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser) rs765632190 0.00001
NM_032634.4(PIGO):c.1904C>G (p.Ala635Gly) rs1829445064 0.00001
NM_032634.4(PIGO):c.1916A>G (p.His639Arg) rs1829444705 0.00001
NM_032634.4(PIGO):c.1945C>T (p.His649Tyr) rs759688557 0.00001
NM_032634.4(PIGO):c.1955C>A (p.Pro652His) rs375182208 0.00001
NM_032634.4(PIGO):c.2030T>C (p.Leu677Pro) rs1587164392 0.00001
NM_032634.4(PIGO):c.2039T>C (p.Leu680Pro) rs766592273 0.00001
NM_032634.4(PIGO):c.2050G>A (p.Val684Met) rs761745437 0.00001
NM_032634.4(PIGO):c.2065C>T (p.Arg689Cys) rs775041042 0.00001
NM_032634.4(PIGO):c.2069G>A (p.Arg690His) rs778578535 0.00001
NM_032634.4(PIGO):c.206G>A (p.Arg69Gln) rs1479047885 0.00001
NM_032634.4(PIGO):c.2080C>A (p.Leu694Ile) rs1489661507 0.00001
NM_032634.4(PIGO):c.2113C>T (p.Arg705Cys) rs551682667 0.00001
NM_032634.4(PIGO):c.2114G>A (p.Arg705His) rs761836966 0.00001
NM_032634.4(PIGO):c.2119G>A (p.Gly707Arg) rs1013394440 0.00001
NM_032634.4(PIGO):c.2168C>T (p.Ser723Leu) rs1554672556 0.00001
NM_032634.4(PIGO):c.217G>T (p.Val73Leu) rs371057978 0.00001
NM_032634.4(PIGO):c.2233C>T (p.Arg745Trp) rs762428877 0.00001
NM_032634.4(PIGO):c.2234G>A (p.Arg745Gln) rs371317684 0.00001
NM_032634.4(PIGO):c.2285C>T (p.Pro762Leu) rs767539954 0.00001
NM_032634.4(PIGO):c.2347T>C (p.Phe783Leu) rs1314015092 0.00001
NM_032634.4(PIGO):c.2355C>T (p.Gly785=) rs766309673 0.00001
NM_032634.4(PIGO):c.2360C>G (p.Pro787Arg) rs1396329353 0.00001
NM_032634.4(PIGO):c.2405G>A (p.Arg802Gln) rs771347652 0.00001
NM_032634.4(PIGO):c.2411T>G (p.Met804Arg) rs763204004 0.00001
NM_032634.4(PIGO):c.2435T>C (p.Leu812Ser) rs746967719 0.00001
NM_032634.4(PIGO):c.2458C>T (p.Pro820Ser) rs1413004957 0.00001
NM_032634.4(PIGO):c.2474C>T (p.Ala825Val) rs750185627 0.00001
NM_032634.4(PIGO):c.2485G>A (p.Gly829Arg) rs149950408 0.00001
NM_032634.4(PIGO):c.2497T>G (p.Ser833Ala) rs931445470 0.00001
NM_032634.4(PIGO):c.2506A>G (p.Met836Val) rs752108320 0.00001
NM_032634.4(PIGO):c.2509G>A (p.Val837Ile) rs766765040 0.00001
NM_032634.4(PIGO):c.2555C>T (p.Ala852Val) rs768909165 0.00001
NM_032634.4(PIGO):c.2584C>G (p.Leu862Val) rs377645902 0.00001
NM_032634.4(PIGO):c.2612A>C (p.His871Pro) rs909488930 0.00001
NM_032634.4(PIGO):c.2663C>A (p.Pro888Gln) rs1829377572 0.00001
NM_032634.4(PIGO):c.2696C>G (p.Ala899Gly) rs774193694 0.00001
NM_032634.4(PIGO):c.2699C>T (p.Thr900Ile) rs770850061 0.00001
NM_032634.4(PIGO):c.272C>G (p.Pro91Arg) rs995820474 0.00001
NM_032634.4(PIGO):c.2747A>G (p.His916Arg) rs1331077224 0.00001
NM_032634.4(PIGO):c.2764G>A (p.Val922Met) rs756455405 0.00001
NM_032634.4(PIGO):c.2767G>A (p.Gly923Arg) rs1285786753 0.00001
NM_032634.4(PIGO):c.2773C>T (p.Pro925Ser) rs767750872 0.00001
NM_032634.4(PIGO):c.2792G>A (p.Cys931Tyr) rs891303491 0.00001
NM_032634.4(PIGO):c.2803C>T (p.Pro935Ser) rs1160072970 0.00001
NM_032634.4(PIGO):c.2852C>T (p.Ala951Val) rs761635526 0.00001
NM_032634.4(PIGO):c.2855-3C>T rs746026821 0.00001
NM_032634.4(PIGO):c.2874G>C (p.Leu958=) rs1269359376 0.00001
NM_032634.4(PIGO):c.2891G>A (p.Cys964Tyr) rs148648652 0.00001
NM_032634.4(PIGO):c.2995C>T (p.Arg999Trp) rs61746764 0.00001
NM_032634.4(PIGO):c.2996G>A (p.Arg999Gln) rs1160814644 0.00001
NM_032634.4(PIGO):c.3014T>C (p.Phe1005Ser) rs1829344388 0.00001
NM_032634.4(PIGO):c.3061G>A (p.Gly1021Ser) rs1006221471 0.00001
NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala) rs139423183 0.00001
NM_032634.4(PIGO):c.3069G>T (p.Gln1023His) rs746286276 0.00001
NM_032634.4(PIGO):c.3169G>T (p.Val1057Leu) rs1374835915 0.00001
NM_032634.4(PIGO):c.3177C>T (p.Ser1059=) rs771261979 0.00001
NM_032634.4(PIGO):c.3198A>G (p.Ile1066Met) rs1205267378 0.00001
NM_032634.4(PIGO):c.324G>T (p.Gln108His) rs773937388 0.00001
NM_032634.4(PIGO):c.342G>T (p.Gln114His) rs1470054515 0.00001
NM_032634.4(PIGO):c.362A>G (p.Tyr121Cys) rs1283775272 0.00001
NM_032634.4(PIGO):c.371A>C (p.Gln124Pro) rs1204483753 0.00001
NM_032634.4(PIGO):c.372G>T (p.Gln124His) rs952844998 0.00001
NM_032634.4(PIGO):c.398A>G (p.Gln133Arg) rs1384669720 0.00001
NM_032634.4(PIGO):c.448G>A (p.Gly150Ser) rs774734630 0.00001
NM_032634.4(PIGO):c.460G>A (p.Ala154Thr) rs201813691 0.00001
NM_032634.4(PIGO):c.484A>G (p.Asn162Asp) rs776095449 0.00001
NM_032634.4(PIGO):c.490A>G (p.Ile164Val) rs1425816362 0.00001
NM_032634.4(PIGO):c.531G>A (p.Met177Ile) rs769886723 0.00001
NM_032634.4(PIGO):c.693C>G (p.Phe231Leu) rs1587173214 0.00001
NM_032634.4(PIGO):c.698G>A (p.Gly233Asp) rs1210708486 0.00001
NM_032634.4(PIGO):c.710G>T (p.Cys237Phe) rs773052205 0.00001
NM_032634.4(PIGO):c.739G>A (p.Glu247Lys) rs1266167213 0.00001
NM_032634.4(PIGO):c.749A>G (p.Lys250Arg) rs200782253 0.00001
NM_032634.4(PIGO):c.782G>C (p.Gly261Ala) rs762970543 0.00001
NM_032634.4(PIGO):c.793C>T (p.Arg265Cys) rs765131021 0.00001
NM_032634.4(PIGO):c.817G>A (p.Val273Ile) rs776286607 0.00001
NM_032634.4(PIGO):c.890C>G (p.Ala297Gly) rs760357843 0.00001
NM_032634.4(PIGO):c.902A>G (p.Tyr301Cys) rs771571749 0.00001
NM_032634.4(PIGO):c.907C>T (p.Pro303Ser) rs1175305039 0.00001
NM_032634.4(PIGO):c.937G>C (p.Glu313Gln) rs747260799 0.00001
NM_032634.4(PIGO):c.95G>A (p.Arg32His) rs550039576 0.00001
NM_032634.4(PIGO):c.961G>C (p.Val321Leu) rs1829514232 0.00001
NM_032634.4(PIGO):c.*220G>C rs773911038
NM_032634.4(PIGO):c.*382G>A rs1829282610
NM_032634.4(PIGO):c.1028T>C (p.Val343Ala) rs2131078846
NM_032634.4(PIGO):c.1043T>C (p.Phe348Ser)
NM_032634.4(PIGO):c.1045T>G (p.Ser349Ala) rs1554673142
NM_032634.4(PIGO):c.1049G>T (p.Gly350Val) rs368691880
NM_032634.4(PIGO):c.1073C>T (p.Ser358Phe) rs376445701
NM_032634.4(PIGO):c.1079C>A (p.Ala360Asp)
NM_032634.4(PIGO):c.1094C>T (p.Ser365Leu) rs1262476458
NM_032634.4(PIGO):c.1095A>G (p.Ser365=) rs771034645
NM_032634.4(PIGO):c.1120G>C (p.Val374Leu) rs1587168605
NM_032634.4(PIGO):c.1127G>C (p.Arg376Pro) rs768552303
NM_032634.4(PIGO):c.1127G>T (p.Arg376Leu) rs768552303
NM_032634.4(PIGO):c.1135C>T (p.His379Tyr) rs771838559
NM_032634.4(PIGO):c.119G>A (p.Ser40Asn)
NM_032634.4(PIGO):c.1213G>A (p.Ala405Thr)
NM_032634.4(PIGO):c.1225T>C (p.Trp409Arg) rs2131077871
NM_032634.4(PIGO):c.1241C>G (p.Pro414Arg) rs944789603
NM_032634.4(PIGO):c.1244A>G (p.Lys415Arg) rs1265730676
NM_032634.4(PIGO):c.1247G>A (p.Gly416Glu) rs774194698
NM_032634.4(PIGO):c.1270G>A (p.Val424Met)
NM_032634.4(PIGO):c.1293C>T (p.Phe431=) rs988398998
NM_032634.4(PIGO):c.1297C>T (p.Arg433Trp)
NM_032634.4(PIGO):c.1316G>A (p.Cys439Tyr)
NM_032634.4(PIGO):c.1327T>C (p.Trp443Arg)
NM_032634.4(PIGO):c.1334G>A (p.Arg445His)
NM_032634.4(PIGO):c.1339T>C (p.Ser447Pro)
NM_032634.4(PIGO):c.1351A>G (p.Met451Val) rs1477371877
NM_032634.4(PIGO):c.1352T>G (p.Met451Arg) rs1057518632
NM_032634.4(PIGO):c.1355C>G (p.Ala452Gly) rs767418527
NM_032634.4(PIGO):c.1361G>T (p.Gly454Val) rs751477063
NM_032634.4(PIGO):c.1365T>G (p.Thr455=) rs2131077068
NM_032634.4(PIGO):c.1391T>G (p.Ile464Ser) rs982318294
NM_032634.4(PIGO):c.1396C>G (p.Leu466Val) rs1829476284
NM_032634.4(PIGO):c.1400T>C (p.Leu467Pro)
NM_032634.4(PIGO):c.1407_1421del (p.Gln470_Ser474del) rs756923468
NM_032634.4(PIGO):c.1421C>G (p.Ser474Cys) rs1829474910
NM_032634.4(PIGO):c.1424C>G (p.Pro475Arg) rs370166497
NM_032634.4(PIGO):c.1433C>T (p.Pro478Leu) rs1829474467
NM_032634.4(PIGO):c.1442C>G (p.Pro481Arg) rs1563997847
NM_032634.4(PIGO):c.1493C>T (p.Ala498Val) rs139997527
NM_032634.4(PIGO):c.14C>T (p.Ser5Leu) rs1829634211
NM_032634.4(PIGO):c.1502T>A (p.Leu501Gln) rs1829470218
NM_032634.4(PIGO):c.1505G>A (p.Gly502Glu) rs1486039779
NM_032634.4(PIGO):c.1510A>G (p.Ile504Val) rs868736867
NM_032634.4(PIGO):c.1512T>G (p.Ile504Met)
NM_032634.4(PIGO):c.1528C>G (p.Leu510Val)
NM_032634.4(PIGO):c.152C>T (p.Pro51Leu) rs1829626741
NM_032634.4(PIGO):c.154T>C (p.Trp52Arg) rs1829626477
NM_032634.4(PIGO):c.1574T>A (p.Phe525Tyr) rs935550232
NM_032634.4(PIGO):c.1591G>A (p.Ala531Thr) rs1416430595
NM_032634.4(PIGO):c.1600G>A (p.Gly534Arg)
NM_032634.4(PIGO):c.1657CTG[1] (p.Leu554del)
NM_032634.4(PIGO):c.1666C>T (p.Arg556Cys) rs754771826
NM_032634.4(PIGO):c.1667G>A (p.Arg556His)
NM_032634.4(PIGO):c.1667G>T (p.Arg556Leu)
NM_032634.4(PIGO):c.1673C>T (p.Ala558Val) rs544432298
NM_032634.4(PIGO):c.1681T>A (p.Phe561Ile)
NM_032634.4(PIGO):c.1703C>T (p.Ala568Val)
NM_032634.4(PIGO):c.1707G>C (p.Glu569Asp) rs752287920
NM_032634.4(PIGO):c.1730T>C (p.Leu577Ser) rs1396494796
NM_032634.4(PIGO):c.1741A>G (p.Ile581Val) rs1390829462
NM_032634.4(PIGO):c.1747C>T (p.Leu583Phe) rs778946017
NM_032634.4(PIGO):c.1751T>C (p.Leu584Pro) rs1829452882
NM_032634.4(PIGO):c.1758C>T (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1789C>A (p.Pro597Thr) rs1829451050
NM_032634.4(PIGO):c.1801A>G (p.Thr601Ala) rs2131075982
NM_032634.4(PIGO):c.1817G>A (p.Gly606Asp)
NM_032634.4(PIGO):c.1820C>A (p.Thr607Asn) rs1829449172
NM_032634.4(PIGO):c.1837C>A (p.Pro613Thr)
NM_032634.4(PIGO):c.1840C>T (p.Pro614Ser) rs2131075851
NM_032634.4(PIGO):c.1841C>G (p.Pro614Arg) rs749184960
NM_032634.4(PIGO):c.1847A>C (p.His616Pro)
NM_032634.4(PIGO):c.1857A>G (p.Ala619=) rs1278167055
NM_032634.4(PIGO):c.1861G>T (p.Ala621Ser)
NM_032634.4(PIGO):c.1862C>G (p.Ala621Gly)
NM_032634.4(PIGO):c.1907G>A (p.Gly636Glu)
NM_032634.4(PIGO):c.1919G>A (p.Arg640His) rs918368312
NM_032634.4(PIGO):c.1919G>T (p.Arg640Leu) rs918368312
NM_032634.4(PIGO):c.1927G>A (p.Glu643Lys) rs369499442
NM_032634.4(PIGO):c.1930G>A (p.Glu644Lys)
NM_032634.4(PIGO):c.1930G>C (p.Glu644Gln) rs1237579146
NM_032634.4(PIGO):c.1936C>T (p.Pro646Ser) rs1829443313
NM_032634.4(PIGO):c.193T>A (p.Ser65Thr) rs2131084267
NM_032634.4(PIGO):c.1949C>T (p.Ser650Phe) rs1587164764
NM_032634.4(PIGO):c.1952C>T (p.Ser651Phe) rs1441207104
NM_032634.4(PIGO):c.1960C>G (p.Leu654Val) rs766400679
NM_032634.4(PIGO):c.1966C>T (p.Pro656Ser)
NM_032634.4(PIGO):c.1982T>C (p.Val661Ala)
NM_032634.4(PIGO):c.1982T>G (p.Val661Gly) rs769720030
NM_032634.4(PIGO):c.1991G>C (p.Arg664Pro) rs371923881
NM_032634.4(PIGO):c.2002T>G (p.Leu668Val)
NM_032634.4(PIGO):c.2003T>G (p.Leu668Trp) rs746676621
NM_032634.4(PIGO):c.2018G>C (p.Cys673Ser) rs1829439353
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_032634.4(PIGO):c.2027C>T (p.Ala676Val)
NM_032634.4(PIGO):c.2030T>G (p.Leu677Arg) rs1587164392
NM_032634.4(PIGO):c.2031G>A (p.Leu677=) rs886063904
NM_032634.4(PIGO):c.2048C>T (p.Ala683Val) rs1436127368
NM_032634.4(PIGO):c.204G>A (p.Ser68=)
NM_032634.4(PIGO):c.2054G>A (p.Arg685His) rs537260013
NM_032634.4(PIGO):c.2054_2055delinsTT (p.Arg685Leu) rs1829436323
NM_032634.4(PIGO):c.2066G>C (p.Arg689Pro) rs771748735
NM_032634.4(PIGO):c.2068C>T (p.Arg690Cys)
NM_032634.4(PIGO):c.2075G>A (p.Gly692Asp) rs1829434904
NM_032634.4(PIGO):c.2084_2086del (p.Lys695del) rs1436537334
NM_032634.4(PIGO):c.2114G>C (p.Arg705Pro) rs761836966
NM_032634.4(PIGO):c.211G>A (p.Val71Met) rs540103270
NM_032634.4(PIGO):c.2132T>C (p.Met711Thr) rs2131074970
NM_032634.4(PIGO):c.2144C>A (p.Thr715Asn)
NM_032634.4(PIGO):c.2158G>A (p.Ala720Thr) rs1829430826
NM_032634.4(PIGO):c.2165C>T (p.Ala722Val) rs895003968
NM_032634.4(PIGO):c.2176G>A (p.Asp726Asn) rs1306054354
NM_032634.4(PIGO):c.2182G>C (p.Ala728Pro) rs1221803789
NM_032634.4(PIGO):c.2182G>T (p.Ala728Ser) rs1221803789
NM_032634.4(PIGO):c.2185C>A (p.Pro729Thr) rs925153680
NM_032634.4(PIGO):c.2188C>T (p.Pro730Ser) rs747418653
NM_032634.4(PIGO):c.2189C>A (p.Pro730His) rs561174794
NM_032634.4(PIGO):c.2189C>G (p.Pro730Arg)
NM_032634.4(PIGO):c.2189C>T (p.Pro730Leu) rs561174794
NM_032634.4(PIGO):c.2192G>A (p.Arg731His) rs946030670
NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu)
NM_032634.4(PIGO):c.2197C>G (p.Arg733Gly) rs748093757
NM_032634.4(PIGO):c.221T>C (p.Leu74Pro) rs1829622098
NM_032634.4(PIGO):c.2222T>C (p.Met741Thr)
NM_032634.4(PIGO):c.2245G>A (p.Gly749Arg) rs1829424417
NM_032634.4(PIGO):c.2252C>T (p.Ala751Val) rs1461400949
NM_032634.4(PIGO):c.2257T>A (p.Ser753Thr) rs2131074572
NM_032634.4(PIGO):c.2258C>T (p.Ser753Leu) rs1473159434
NM_032634.4(PIGO):c.2261G>A (p.Gly754Glu) rs1424475122
NM_032634.4(PIGO):c.2261G>C (p.Gly754Ala) rs1424475122
NM_032634.4(PIGO):c.226G>A (p.Asp76Asn) rs1829621859
NM_032634.4(PIGO):c.2273T>C (p.Leu758Pro) rs1332591691
NM_032634.4(PIGO):c.2281A>C (p.Lys761Gln) rs2131074474
NM_032634.4(PIGO):c.2284C>G (p.Pro762Ala) rs752700560
NM_032634.4(PIGO):c.2299G>T (p.Val767Leu) rs1237902622
NM_032634.4(PIGO):c.2308G>A (p.Gly770Arg) rs2131074356
NM_032634.4(PIGO):c.2309G>C (p.Gly770Ala)
NM_032634.4(PIGO):c.230C>T (p.Ala77Val) rs1489992993
NM_032634.4(PIGO):c.2315G>A (p.Gly772Asp) rs2131074331
NM_032634.4(PIGO):c.2325G>T (p.Arg775Ser) rs367815008
NM_032634.4(PIGO):c.2326A>G (p.Thr776Ala) rs1829419277
NM_032634.4(PIGO):c.2335G>C (p.Val779Leu)
NM_032634.4(PIGO):c.2345C>T (p.Pro782Leu)
NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn) rs1390807512
NM_032634.4(PIGO):c.2371G>A (p.Ala791Thr)
NM_032634.4(PIGO):c.2380G>A (p.Asp794Asn) rs1394125837
NM_032634.4(PIGO):c.2388G>A (p.Val796=) rs1563995829
NM_032634.4(PIGO):c.23T>C (p.Leu8Pro) rs755191263
NM_032634.4(PIGO):c.2410A>G (p.Met804Val) rs1587162458
NM_032634.4(PIGO):c.2414A>G (p.Gln805Arg) rs1829412566
NM_032634.4(PIGO):c.2426G>A (p.Arg809Gln)
NM_032634.4(PIGO):c.2431C>G (p.Arg811Gly) rs140470862
NM_032634.4(PIGO):c.2447A>C (p.Lys816Thr)
NM_032634.4(PIGO):c.244T>G (p.Phe82Val)
NM_032634.4(PIGO):c.2470G>A (p.Ala824Thr) rs1452787176
NM_032634.4(PIGO):c.2471C>G (p.Ala824Gly) rs1248760414
NM_032634.4(PIGO):c.247G>A (p.Ala83Thr) rs1171298718
NM_032634.4(PIGO):c.2488A>G (p.Ser830Gly) rs1201442869
NM_032634.4(PIGO):c.2503G>A (p.Ala835Thr)
NM_032634.4(PIGO):c.252G>C (p.Gln84His) rs1829620198
NM_032634.4(PIGO):c.253C>G (p.Pro85Ala) rs745754359
NM_032634.4(PIGO):c.2555_2572del (p.Ala852_Leu857del) rs1829403799
NM_032634.4(PIGO):c.2560C>T (p.Arg854Cys)
NM_032634.4(PIGO):c.2564T>C (p.Ile855Thr)
NM_032634.4(PIGO):c.259C>T (p.His87Tyr) rs1014636057
NM_032634.4(PIGO):c.2607_2609del (p.Leu870del) rs1829402902
NM_032634.4(PIGO):c.2621C>A (p.Ala874Asp)
NM_032634.4(PIGO):c.2627G>A (p.Gly876Glu) rs1057524330
NM_032634.4(PIGO):c.2670G>T (p.Gln890His) rs2131072103
NM_032634.4(PIGO):c.2674G>A (p.Val892Ile)
NM_032634.4(PIGO):c.2693T>C (p.Met898Thr) rs1829374920
NM_032634.4(PIGO):c.2707T>G (p.Phe903Val) rs1009399563
NM_032634.4(PIGO):c.2708_2710del (p.Phe903del)
NM_032634.4(PIGO):c.2711_2713del (p.Tyr904del)
NM_032634.4(PIGO):c.2731G>A (p.Val911Ile) rs779624264
NM_032634.4(PIGO):c.2741C>T (p.Ala914Val)
NM_032634.4(PIGO):c.2743A>G (p.Ile915Val) rs1554672147
NM_032634.4(PIGO):c.2779G>A (p.Gly927Ser) rs1444732315
NM_032634.4(PIGO):c.2815G>C (p.Val939Leu) rs2131071645
NM_032634.4(PIGO):c.2818G>A (p.Gly940Arg) rs900520761
NM_032634.4(PIGO):c.2833G>T (p.Ala945Ser)
NM_032634.4(PIGO):c.283C>T (p.Pro95Ser)
NM_032634.4(PIGO):c.2842CTC[1] (p.Leu949del)
NM_032634.4(PIGO):c.2845C>G (p.Leu949Val) rs2131071575
NM_032634.4(PIGO):c.2851G>T (p.Ala951Ser) rs1243487347
NM_032634.4(PIGO):c.2855-17_2855-16dup
NM_032634.4(PIGO):c.2872C>A (p.Leu958Met) rs991755076
NM_032634.4(PIGO):c.2881C>T (p.Pro961Ser) rs771759492
NM_032634.4(PIGO):c.2886C>G (p.Phe962Leu)
NM_032634.4(PIGO):c.2890T>C (p.Cys964Arg) rs1829353889
NM_032634.4(PIGO):c.2895G>A (p.Glu965=)
NM_032634.4(PIGO):c.2912A>G (p.Lys971Arg) rs1829352416
NM_032634.4(PIGO):c.2930G>A (p.Gly977Glu) rs1587158391
NM_032634.4(PIGO):c.2934T>G (p.Asn978Lys) rs780217709
NM_032634.4(PIGO):c.2943T>A (p.Asp981Glu) rs1829350572
NM_032634.4(PIGO):c.2944G>A (p.Ala982Thr) rs1183627091
NM_032634.4(PIGO):c.2945C>T (p.Ala982Val)
NM_032634.4(PIGO):c.2947A>G (p.Arg983Gly)
NM_032634.4(PIGO):c.2957C>A (p.Pro986His) rs1255026795
NM_032634.4(PIGO):c.2959G>A (p.Glu987Lys) rs550176742
NM_032634.4(PIGO):c.2988G>C (p.Met996Ile) rs759177338
NM_032634.4(PIGO):c.298T>C (p.Phe100Leu) rs1564002038
NM_032634.4(PIGO):c.298T>G (p.Phe100Val) rs1564002038
NM_032634.4(PIGO):c.2990G>T (p.Arg997Leu) rs770280569
NM_032634.4(PIGO):c.299T>C (p.Phe100Ser)
NM_032634.4(PIGO):c.3002C>A (p.Ala1001Glu)
NM_032634.4(PIGO):c.3020C>G (p.Ala1007Gly)
NM_032634.4(PIGO):c.3038G>T (p.Gly1013Val) rs1829343312
NM_032634.4(PIGO):c.3086T>C (p.Leu1029Ser) rs1829316706
NM_032634.4(PIGO):c.3098T>C (p.Ile1033Thr) rs1587155838
NM_032634.4(PIGO):c.3099C>G (p.Ile1033Met) rs1587155827
NM_032634.4(PIGO):c.3104G>T (p.Arg1035Leu) rs763001837
NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys) rs764658486
NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe)
NM_032634.4(PIGO):c.3138del (p.Lys1047fs)
NM_032634.4(PIGO):c.3141-9T>A rs374227554
NM_032634.4(PIGO):c.3141-9T>G
NM_032634.4(PIGO):c.3154_3155delinsTT (p.Ala1052Phe) rs1829305473
NM_032634.4(PIGO):c.3167T>G (p.Ile1056Ser) rs1563992694
NM_032634.4(PIGO):c.3178G>C (p.Val1060Leu)
NM_032634.4(PIGO):c.317C>T (p.Ser106Phe) rs1346782397
NM_032634.4(PIGO):c.3194G>C (p.Gly1065Ala) rs1563992617
NM_032634.4(PIGO):c.3199G>C (p.Ala1067Pro)
NM_032634.4(PIGO):c.3212G>A (p.Arg1071Lys) rs1829302818
NM_032634.4(PIGO):c.3233C>G (p.Ser1078Cys)
NM_032634.4(PIGO):c.3233C>T (p.Ser1078Phe) rs1179043464
NM_032634.4(PIGO):c.3253C>A (p.Leu1085Met) rs1829299184
NM_032634.4(PIGO):c.3259C>T (p.Gln1087Ter) rs768738759
NM_032634.4(PIGO):c.3261_3262delinsAG (p.Gln1088Glu)
NM_032634.4(PIGO):c.3262C>G (p.Gln1088Glu) rs771799139
NM_032634.4(PIGO):c.350A>G (p.His117Arg)
NM_032634.4(PIGO):c.361T>A (p.Tyr121Asn) rs2131083704
NM_032634.4(PIGO):c.370C>G (p.Gln124Glu)
NM_032634.4(PIGO):c.387C>A (p.Thr129=) rs765968784
NM_032634.4(PIGO):c.412C>T (p.Leu138Phe) rs1057518551
NM_032634.4(PIGO):c.418A>G (p.Thr140Ala) rs1564001736
NM_032634.4(PIGO):c.433A>G (p.Thr145Ala) rs1038361434
NM_032634.4(PIGO):c.437T>G (p.Phe146Cys) rs2131083426
NM_032634.4(PIGO):c.449G>T (p.Gly150Val) rs1587176408
NM_032634.4(PIGO):c.452G>A (p.Ser151Asn) rs771252279
NM_032634.4(PIGO):c.470C>T (p.Ala157Val) rs764817207
NM_032634.4(PIGO):c.485A>G (p.Asn162Ser) rs1480805750
NM_032634.4(PIGO):c.512-3C>A rs2131081917
NM_032634.4(PIGO):c.512-5T>A
NM_032634.4(PIGO):c.517C>T (p.Arg173Cys)
NM_032634.4(PIGO):c.523G>T (p.Val175Phe) rs1829572491
NM_032634.4(PIGO):c.530T>C (p.Met177Thr) rs1829572371
NM_032634.4(PIGO):c.540T>A (p.Asp180Glu) rs776571289
NM_032634.4(PIGO):c.55G>T (p.Ala19Ser) rs765218861
NM_032634.4(PIGO):c.565G>T (p.Ala189Ser) rs746960142
NM_032634.4(PIGO):c.56C>T (p.Ala19Val) rs1554673856
NM_032634.4(PIGO):c.583T>C (p.Phe195Leu) rs1421287635
NM_032634.4(PIGO):c.588C>G (p.Phe196Leu)
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.613G>A (p.Asp205Asn)
NM_032634.4(PIGO):c.617C>T (p.Thr206Ile)
NM_032634.4(PIGO):c.628G>A (p.Gly210Ser)
NM_032634.4(PIGO):c.629G>A (p.Gly210Asp) rs2131081522
NM_032634.4(PIGO):c.63T>G (p.Ile21Met) rs776535706
NM_032634.4(PIGO):c.655+4A>T
NM_032634.4(PIGO):c.672G>T (p.Trp224Cys) rs760792660
NM_032634.4(PIGO):c.679C>G (p.Leu227Val)
NM_032634.4(PIGO):c.67C>T (p.Leu23Phe) rs1396810510
NM_032634.4(PIGO):c.715C>T (p.His239Tyr) rs1273593671
NM_032634.4(PIGO):c.728C>T (p.Pro243Leu) rs1829553189
NM_032634.4(PIGO):c.737C>G (p.Pro246Arg) rs746364157
NM_032634.4(PIGO):c.737C>T (p.Pro246Leu)
NM_032634.4(PIGO):c.764T>C (p.Met255Thr) rs1829550983
NM_032634.4(PIGO):c.765G>T (p.Met255Ile) rs1829550863
NM_032634.4(PIGO):c.779A>G (p.Gln260Arg)
NM_032634.4(PIGO):c.781G>A (p.Gly261Arg)
NM_032634.4(PIGO):c.787G>A (p.Val263Met) rs1829535554
NM_032634.4(PIGO):c.79G>A (p.Gly27Ser) rs1829630935
NM_032634.4(PIGO):c.829G>C (p.Asp277His) rs1265192200
NM_032634.4(PIGO):c.838A>T (p.Met280Leu) rs755227595
NM_032634.4(PIGO):c.856C>A (p.His286Asn) rs1587171258
NM_032634.4(PIGO):c.866A>G (p.Asp289Gly)
NM_032634.4(PIGO):c.899T>A (p.Leu300Gln)
NM_032634.4(PIGO):c.908C>G (p.Pro303Arg) rs1587170972
NM_032634.4(PIGO):c.929C>A (p.Thr310Asn) rs770257536
NM_032634.4(PIGO):c.939+4_939+5dup
NM_032634.4(PIGO):c.942G>T (p.Glu314Asp) rs764488316
NM_032634.4(PIGO):c.946G>A (p.Glu316Lys) rs377198873
NM_032634.4(PIGO):c.94C>T (p.Arg32Cys) rs1057180311
NM_032634.4(PIGO):c.962T>C (p.Val321Ala) rs1829514099
NM_032634.4(PIGO):c.974C>G (p.Pro325Arg) rs1364028691

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