NM_020806.5(GPHN):c.271G>A (p.Ala91Thr)
|
rs140021399
|
0.00021
|
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)
|
rs121908539
|
0.00016
|
NM_020806.5(GPHN):c.390-3C>T
|
rs527251241
|
0.00010
|
NM_020806.5(GPHN):c.163G>T (p.Ala55Ser)
|
rs1395600594
|
0.00007
|
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)
|
rs144247888
|
0.00007
|
NM_020806.5(GPHN):c.49G>A (p.Val17Ile)
|
rs550187024
|
0.00005
|
NM_020806.5(GPHN):c.715G>A (p.Ala239Thr)
|
rs751089463
|
0.00004
|
NM_020806.5(GPHN):c.826C>T (p.Arg276Trp)
|
rs777009433
|
0.00004
|
NM_020806.5(GPHN):c.1033G>A (p.Val345Met)
|
rs774554831
|
0.00003
|
NM_020806.5(GPHN):c.1336A>G (p.Thr446Ala)
|
rs776988756
|
0.00003
|
NM_020806.5(GPHN):c.1766A>G (p.Asn589Ser)
|
rs903197780
|
0.00003
|
NM_020806.5(GPHN):c.198C>G (p.Ile66Met)
|
rs1231315486
|
0.00003
|
NM_020806.5(GPHN):c.509G>A (p.Arg170His)
|
rs371904779
|
0.00003
|
NM_020806.5(GPHN):c.914G>A (p.Arg305His)
|
rs778622230
|
0.00003
|
NM_020806.5(GPHN):c.1712G>A (p.Gly571Asp)
|
rs762726630
|
0.00002
|
NM_020806.5(GPHN):c.1739T>C (p.Val580Ala)
|
rs752190801
|
0.00002
|
NM_020806.5(GPHN):c.278G>A (p.Arg93Gln)
|
rs199979921
|
0.00002
|
NM_020806.5(GPHN):c.381G>A (p.Met127Ile)
|
rs1057338763
|
0.00002
|
NM_020806.5(GPHN):c.496A>G (p.Ile166Val)
|
rs764823306
|
0.00002
|
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys)
|
rs771584129
|
0.00001
|
NM_020806.5(GPHN):c.1060T>C (p.Phe354Leu)
|
rs1253036953
|
0.00001
|
NM_020806.5(GPHN):c.1129A>G (p.Ile377Val)
|
rs776300885
|
0.00001
|
NM_020806.5(GPHN):c.1199C>A (p.Pro400His)
|
rs1379719209
|
0.00001
|
NM_020806.5(GPHN):c.1238-3C>T
|
rs1233468655
|
0.00001
|
NM_020806.5(GPHN):c.1300C>G (p.Gln434Glu)
|
rs770441465
|
0.00001
|
NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln)
|
rs745338809
|
0.00001
|
NM_020806.5(GPHN):c.1334C>T (p.Thr445Ile)
|
rs769253787
|
0.00001
|
NM_020806.5(GPHN):c.1350A>G (p.Ile450Met)
|
rs906064417
|
0.00001
|
NM_020806.5(GPHN):c.136C>T (p.Pro46Ser)
|
rs777618122
|
0.00001
|
NM_020806.5(GPHN):c.1414-14G>A
|
rs1204105791
|
0.00001
|
NM_020806.5(GPHN):c.1676A>G (p.Asn559Ser)
|
rs1161767597
|
0.00001
|
NM_020806.5(GPHN):c.1678C>T (p.Arg560Cys)
|
rs1567363565
|
0.00001
|
NM_020806.5(GPHN):c.1679G>A (p.Arg560His)
|
rs1364702887
|
0.00001
|
NM_020806.5(GPHN):c.1735A>G (p.Ile579Val)
|
rs1325847946
|
0.00001
|
NM_020806.5(GPHN):c.1738G>T (p.Val580Leu)
|
rs1204402891
|
0.00001
|
NM_020806.5(GPHN):c.1753G>C (p.Asp585His)
|
rs1018860844
|
0.00001
|
NM_020806.5(GPHN):c.1790G>A (p.Arg597His)
|
rs143010421
|
0.00001
|
NM_020806.5(GPHN):c.1804A>G (p.Ile602Val)
|
rs756165409
|
0.00001
|
NM_020806.5(GPHN):c.1819G>A (p.Val607Ile)
|
rs2080615843
|
0.00001
|
NM_020806.5(GPHN):c.1827G>A (p.Met609Ile)
|
rs1241162359
|
0.00001
|
NM_020806.5(GPHN):c.1831G>A (p.Glu611Lys)
|
rs1060499577
|
0.00001
|
NM_020806.5(GPHN):c.188T>C (p.Ile63Thr)
|
rs1432346978
|
0.00001
|
NM_020806.5(GPHN):c.1911-3T>C
|
rs534360121
|
0.00001
|
NM_020806.5(GPHN):c.1927G>A (p.Ala643Thr)
|
rs1406610713
|
0.00001
|
NM_020806.5(GPHN):c.1935G>C (p.Leu645Phe)
|
rs1430232015
|
0.00001
|
NM_020806.5(GPHN):c.1945G>A (p.Gly649Ser)
|
rs199941391
|
0.00001
|
NM_020806.5(GPHN):c.25A>G (p.Thr9Ala)
|
rs1322719524
|
0.00001
|
NM_020806.5(GPHN):c.307G>A (p.Val103Ile)
|
rs774132595
|
0.00001
|
NM_020806.5(GPHN):c.322G>A (p.Ala108Thr)
|
rs1047755380
|
0.00001
|
NM_020806.5(GPHN):c.346C>G (p.Leu116Val)
|
rs755780656
|
0.00001
|
NM_020806.5(GPHN):c.535G>A (p.Val179Met)
|
rs778043539
|
0.00001
|
NM_020806.5(GPHN):c.543T>G (p.Asp181Glu)
|
rs990423200
|
0.00001
|
NM_020806.5(GPHN):c.592A>C (p.Thr198Pro)
|
rs776521403
|
0.00001
|
NM_020806.5(GPHN):c.595A>G (p.Thr199Ala)
|
rs970248522
|
0.00001
|
NM_020806.5(GPHN):c.652_654del (p.Glu218del)
|
rs759966883
|
0.00001
|
NM_020806.5(GPHN):c.670G>A (p.Val224Ile)
|
rs753207665
|
0.00001
|
NM_020806.5(GPHN):c.685G>A (p.Asp229Asn)
|
rs761111433
|
0.00001
|
NM_020806.5(GPHN):c.716C>G (p.Ala239Gly)
|
rs746967730
|
0.00001
|
NM_020806.5(GPHN):c.779A>G (p.Gln260Arg)
|
rs528992608
|
0.00001
|
NM_020806.5(GPHN):c.994A>G (p.Ile332Val)
|
rs1446248720
|
0.00001
|
NC_000014.8:g.(?_66975246)_(66975319_?)dup
|
|
|
NC_000014.8:g.(?_66975246)_(66975329_?)dup
|
|
|
NC_000014.8:g.(?_66975246)_(67567648_?)dup
|
|
|
NC_000014.8:g.(?_67243162)_(67647654_?)dup
|
|
|
NC_000014.8:g.(?_67291172)_(67291304_?)dup
|
|
|
NC_000014.8:g.(?_67291172)_(67391029_?)del
|
|
|
NC_000014.8:g.(?_67346637)_(67389675_?)del
|
|
|
NC_000014.8:g.(?_67346637)_(67391029_?)del
|
|
|
NC_000014.8:g.(?_67346637)_(67391029_?)dup
|
|
|
NC_000014.8:g.(?_67346637)_(67647654_?)dup
|
|
|
NC_000014.8:g.(?_67431888)_(67647654_?)dup
|
|
|
NC_000014.8:g.(?_67490330)_(67567648_?)del
|
|
|
NC_000014.8:g.(?_67490330)_(67635773_?)del
|
|
|
NC_000014.8:g.(?_67525346)_(67647654_?)dup
|
|
|
NC_000014.8:g.(?_67555680)_(67647654_?)dup
|
|
|
NC_000014.8:g.(?_67626112)_(67647654_?)del
|
|
|
NC_000014.8:g.(?_67646275)_(67647654_?)del
|
|
|
NC_000014.9:g.(?_65957717)_(66508591_?)dup
|
|
|
NC_000014.9:g.(?_66965171)_(67100931_?)dup
|
|
|
NM_020806.5(GPHN):c.1004C>A (p.Ala335Asp)
|
rs1555466432
|
|
NM_020806.5(GPHN):c.1007-3T>C
|
|
|
NM_020806.5(GPHN):c.1013G>T (p.Ser338Ile)
|
|
|
NM_020806.5(GPHN):c.1028C>G (p.Thr343Ser)
|
|
|
NM_020806.5(GPHN):c.1036G>A (p.Ala346Thr)
|
|
|
NM_020806.5(GPHN):c.103A>G (p.Ser35Gly)
|
|
|
NM_020806.5(GPHN):c.1046A>G (p.His349Arg)
|
|
|
NM_020806.5(GPHN):c.1048C>T (p.Arg350Cys)
|
rs1802147143
|
|
NM_020806.5(GPHN):c.1049G>A (p.Arg350His)
|
|
|
NM_020806.5(GPHN):c.1051A>G (p.Met351Val)
|
|
|
NM_020806.5(GPHN):c.1053G>A (p.Met351Ile)
|
|
|
NM_020806.5(GPHN):c.1067T>C (p.Leu356Pro)
|
rs2153649195
|
|
NM_020806.5(GPHN):c.1073C>G (p.Ser358Cys)
|
|
|
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met)
|
rs1339182094
|
|
NM_020806.5(GPHN):c.1111C>T (p.Pro371Ser)
|
|
|
NM_020806.5(GPHN):c.1112C>T (p.Pro371Leu)
|
|
|
NM_020806.5(GPHN):c.111A>G (p.Ile37Met)
|
rs2066912188
|
|
NM_020806.5(GPHN):c.112A>G (p.Asn38Asp)
|
|
|
NM_020806.5(GPHN):c.1130T>A (p.Ile377Asn)
|
|
|
NM_020806.5(GPHN):c.1136A>T (p.Asn379Ile)
|
rs2153649226
|
|
NM_020806.5(GPHN):c.1142G>A (p.Arg381Gln)
|
|
|
NM_020806.5(GPHN):c.1144+6A>G
|
rs753331634
|
|
NM_020806.5(GPHN):c.1144G>C (p.Asp382His)
|
rs2153649234
|
|
NM_020806.5(GPHN):c.1165G>C (p.Ala389Pro)
|
|
|
NM_020806.5(GPHN):c.1170A>T (p.Gln390His)
|
rs1239161227
|
|
NM_020806.5(GPHN):c.1223G>T (p.Gly408Val)
|
|
|
NM_020806.5(GPHN):c.1226A>G (p.Tyr409Cys)
|
|
|
NM_020806.5(GPHN):c.1235G>A (p.Arg412Gln)
|
|
|
NM_020806.5(GPHN):c.1237+6T>C
|
|
|
NM_020806.5(GPHN):c.1238-12T>A
|
|
|
NM_020806.5(GPHN):c.1238-3_1238-2del
|
|
|
NM_020806.5(GPHN):c.1238C>T (p.Ala413Val)
|
rs1555490611
|
|
NM_020806.5(GPHN):c.1243G>T (p.Asp415Tyr)
|
rs1567331787
|
|
NM_020806.5(GPHN):c.1249C>G (p.Pro417Ala)
|
rs2153678716
|
|
NM_020806.5(GPHN):c.1255G>C (p.Asp419His)
|
|
|
NM_020806.5(GPHN):c.1258C>T (p.Arg420Cys)
|
|
|
NM_020806.5(GPHN):c.1268T>C (p.Ile423Thr)
|
|
|
NM_020806.5(GPHN):c.127G>A (p.Val43Ile)
|
rs117256383
|
|
NM_020806.5(GPHN):c.1297A>G (p.Thr433Ala)
|
|
|
NM_020806.5(GPHN):c.1328G>T (p.Arg443Leu)
|
rs745338809
|
|
NM_020806.5(GPHN):c.1333A>C (p.Thr445Pro)
|
rs1595179146
|
|
NM_020806.5(GPHN):c.1342G>T (p.Ala448Ser)
|
rs2153685279
|
|
NM_020806.5(GPHN):c.1363G>A (p.Asp455Asn)
|
rs2153685283
|
|
NM_020806.5(GPHN):c.1364A>T (p.Asp455Val)
|
|
|
NM_020806.5(GPHN):c.1396A>G (p.Ile466Val)
|
|
|
NM_020806.5(GPHN):c.1413+3A>G
|
|
|
NM_020806.5(GPHN):c.1413+4C>T
|
|
|
NM_020806.5(GPHN):c.1413+5G>A
|
|
|
NM_020806.5(GPHN):c.1429G>C (p.Glu477Gln)
|
|
|
NM_020806.5(GPHN):c.143T>G (p.Leu48Trp)
|
|
|
NM_020806.5(GPHN):c.1444G>C (p.Val482Leu)
|
|
|
NM_020806.5(GPHN):c.1445T>G (p.Val482Gly)
|
rs1567347826
|
|
NM_020806.5(GPHN):c.144G>T (p.Leu48Phe)
|
rs1381377609
|
|
NM_020806.5(GPHN):c.1453C>T (p.Arg485Trp)
|
|
|
NM_020806.5(GPHN):c.1466A>G (p.Asp489Gly)
|
rs757030425
|
|
NM_020806.5(GPHN):c.1466A>T (p.Asp489Val)
|
|
|
NM_020806.5(GPHN):c.1469T>C (p.Ile490Thr)
|
|
|
NM_020806.5(GPHN):c.1469T>G (p.Ile490Ser)
|
|
|
NM_020806.5(GPHN):c.1470C>T (p.Ile490=)
|
|
|
NM_020806.5(GPHN):c.1473-5T>G
|
rs2078467170
|
|
NM_020806.5(GPHN):c.1473A>G (p.Arg491=)
|
|
|
NM_020806.5(GPHN):c.1475C>A (p.Pro492His)
|
|
|
NM_020806.5(GPHN):c.1480G>A (p.Gly494Ser)
|
|
|
NM_020806.5(GPHN):c.1481G>T (p.Gly494Val)
|
|
|
NM_020806.5(GPHN):c.148G>A (p.Gly50Ser)
|
rs764797083
|
|
NM_020806.5(GPHN):c.1503A>C (p.Glu501Asp)
|
rs2153686895
|
|
NM_020806.5(GPHN):c.1528A>G (p.Met510Val)
|
|
|
NM_020806.5(GPHN):c.1544T>C (p.Ile515Thr)
|
|
|
NM_020806.5(GPHN):c.1549C>A (p.Leu517Ile)
|
|
|
NM_020806.5(GPHN):c.154A>G (p.Thr52Ala)
|
|
|
NM_020806.5(GPHN):c.1558A>T (p.Thr520Ser)
|
rs749747472
|
|
NM_020806.5(GPHN):c.1575G>T (p.Glu525Asp)
|
|
|
NM_020806.5(GPHN):c.157A>G (p.Ile53Val)
|
|
|
NM_020806.5(GPHN):c.1589A>C (p.Lys530Thr)
|
|
|
NM_020806.5(GPHN):c.158T>C (p.Ile53Thr)
|
rs2153461197
|
|
NM_020806.5(GPHN):c.1592T>C (p.Phe531Ser)
|
rs2078474162
|
|
NM_020806.5(GPHN):c.1594C>T (p.Pro532Ser)
|
rs2078474378
|
|
NM_020806.5(GPHN):c.1609A>T (p.Met537Leu)
|
|
|
NM_020806.5(GPHN):c.1625A>G (p.Glu542Gly)
|
|
|
NM_020806.5(GPHN):c.1627C>T (p.Leu543=)
|
|
|
NM_020806.5(GPHN):c.1642G>C (p.Asp548His)
|
rs2153692260
|
|
NM_020806.5(GPHN):c.1658G>A (p.Gly553Glu)
|
|
|
NM_020806.5(GPHN):c.1667G>A (p.Arg556Gln)
|
|
|
NM_020806.5(GPHN):c.1685C>G (p.Thr562Ser)
|
|
|
NM_020806.5(GPHN):c.1691T>C (p.Leu564Pro)
|
|
|
NM_020806.5(GPHN):c.170A>G (p.Lys57Arg)
|
|
|
NM_020806.5(GPHN):c.172A>T (p.Ile58Leu)
|
rs2059386544
|
|
NM_020806.5(GPHN):c.1732G>A (p.Gly578Ser)
|
rs2153692294
|
|
NM_020806.5(GPHN):c.1733G>A (p.Gly578Asp)
|
|
|
NM_020806.5(GPHN):c.1738G>A (p.Val580Ile)
|
rs1204402891
|
|
NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn)
|
rs760218731
|
|
NM_020806.5(GPHN):c.1748+6T>A
|
|
|
NM_020806.5(GPHN):c.1765A>G (p.Asn589Asp)
|
rs2080611781
|
|
NM_020806.5(GPHN):c.1768G>T (p.Ala590Ser)
|
rs375284004
|
|
NM_020806.5(GPHN):c.1769C>T (p.Ala590Val)
|
rs2080612237
|
|
NM_020806.5(GPHN):c.1789C>T (p.Arg597Cys)
|
|
|
NM_020806.5(GPHN):c.1796A>T (p.Asp599Val)
|
|
|
NM_020806.5(GPHN):c.1804A>C (p.Ile602Leu)
|
|
|
NM_020806.5(GPHN):c.1805T>G (p.Ile602Ser)
|
|
|
NM_020806.5(GPHN):c.1817G>A (p.Gly606Asp)
|
|
|
NM_020806.5(GPHN):c.1837-16_1837-11del
|
|
|
NM_020806.5(GPHN):c.1886T>G (p.Phe629Cys)
|
|
|
NM_020806.5(GPHN):c.1891A>G (p.Arg631Gly)
|
rs2153717725
|
|
NM_020806.5(GPHN):c.1906C>T (p.Pro636Ser)
|
|
|
NM_020806.5(GPHN):c.1910+6A>C
|
|
|
NM_020806.5(GPHN):c.1918ACA[1] (p.Thr641del)
|
|
|
NM_020806.5(GPHN):c.1924T>A (p.Phe642Ile)
|
rs2082204409
|
|
NM_020806.5(GPHN):c.1930A>G (p.Thr644Ala)
|
rs2082204624
|
|
NM_020806.5(GPHN):c.1946G>T (p.Gly649Val)
|
rs1555506781
|
|
NM_020806.5(GPHN):c.201+3A>G
|
rs2059387117
|
|
NM_020806.5(GPHN):c.202-3C>G
|
|
|
NM_020806.5(GPHN):c.2083T>A (p.Ser695Thr)
|
|
|
NM_020806.5(GPHN):c.2092G>A (p.Val698Ile)
|
|
|
NM_020806.5(GPHN):c.20T>C (p.Ile7Thr)
|
|
|
NM_020806.5(GPHN):c.20T>G (p.Ile7Ser)
|
|
|
NM_020806.5(GPHN):c.2107C>T (p.Arg703Cys)
|
|
|
NM_020806.5(GPHN):c.2108G>A (p.Arg703His)
|
|
|
NM_020806.5(GPHN):c.2122C>T (p.Arg708Trp)
|
|
|
NM_020806.5(GPHN):c.2123G>A (p.Arg708Gln)
|
rs867353439
|
|
NM_020806.5(GPHN):c.212T>A (p.Ile71Lys)
|
rs2153492960
|
|
NM_020806.5(GPHN):c.2152C>T (p.Pro718Ser)
|
|
|
NM_020806.5(GPHN):c.215A>G (p.Asp72Gly)
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NM_020806.5(GPHN):c.2162G>T (p.Trp721Leu)
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NM_020806.5(GPHN):c.2176G>A (p.Gly726Ser)
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rs2083216874
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NM_020806.5(GPHN):c.2177-8C>A
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rs2140211473
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NM_020806.5(GPHN):c.2185A>G (p.Met729Val)
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rs2140211629
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NM_020806.5(GPHN):c.2195G>A (p.Arg732His)
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NM_020806.5(GPHN):c.2206A>G (p.Met736Val)
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NM_020806.5(GPHN):c.2209C>G (p.Arg737Gly)
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rs1484644467
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NM_020806.5(GPHN):c.2226G>T (p.Leu742Phe)
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rs1567459862
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NM_020806.5(GPHN):c.2261A>C (p.Glu754Ala)
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NM_020806.5(GPHN):c.2275G>A (p.Glu759Lys)
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rs1158733278
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NM_020806.5(GPHN):c.2302C>T (p.Arg768Trp)
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NM_020806.5(GPHN):c.2303G>A (p.Arg768Gln)
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NM_020806.5(GPHN):c.238A>C (p.Asn80His)
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rs2153492969
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NM_020806.5(GPHN):c.262A>C (p.Thr88Pro)
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rs2153492975
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NM_020806.5(GPHN):c.26C>A (p.Thr9Asn)
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NM_020806.5(GPHN):c.274C>G (p.Pro92Ala)
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NM_020806.5(GPHN):c.274C>T (p.Pro92Ser)
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NM_020806.5(GPHN):c.294+5G>A
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rs2061324352
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NM_020806.5(GPHN):c.315A>T (p.Glu105Asp)
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NM_020806.5(GPHN):c.325C>A (p.Pro109Thr)
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rs2063851742
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NM_020806.5(GPHN):c.343A>G (p.Met115Val)
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NM_020806.5(GPHN):c.347T>A (p.Leu116Gln)
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NM_020806.5(GPHN):c.353G>A (p.Gly118Glu)
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NM_020806.5(GPHN):c.361A>G (p.Asn121Asp)
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NM_020806.5(GPHN):c.380T>C (p.Met127Thr)
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NM_020806.5(GPHN):c.389+6A>G
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rs2063855339
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NM_020806.5(GPHN):c.390G>A (p.Arg130=)
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NM_020806.5(GPHN):c.394G>C (p.Val132Leu)
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rs775387309
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NM_020806.5(GPHN):c.412A>G (p.Lys138Glu)
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NM_020806.5(GPHN):c.413A>G (p.Lys138Arg)
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rs1337821246
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NM_020806.5(GPHN):c.422T>C (p.Ile141Thr)
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rs2153558082
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NM_020806.5(GPHN):c.42A>C (p.Gln14His)
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NM_020806.5(GPHN):c.501C>G (p.Asp167Glu)
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NM_020806.5(GPHN):c.508C>T (p.Arg170Cys)
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rs768057286
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NM_020806.5(GPHN):c.518T>A (p.Ile173Asn)
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NM_020806.5(GPHN):c.518T>C (p.Ile173Thr)
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NM_020806.5(GPHN):c.541G>A (p.Asp181Asn)
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NM_020806.5(GPHN):c.565C>T (p.Pro189Ser)
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NM_020806.5(GPHN):c.586C>A (p.Pro196Thr)
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NM_020806.5(GPHN):c.593C>T (p.Thr198Ile)
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NM_020806.5(GPHN):c.596C>T (p.Thr199Ile)
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NM_020806.5(GPHN):c.601C>T (p.Pro201Ser)
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NM_020806.5(GPHN):c.635G>A (p.Cys212Tyr)
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NM_020806.5(GPHN):c.639GGAAGA[1] (p.Glu217_Glu218del)
|
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NM_020806.5(GPHN):c.64+3A>G
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NM_020806.5(GPHN):c.64+6C>A
|
rs750672147
|
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NM_020806.5(GPHN):c.64+6C>G
|
rs750672147
|
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NM_020806.5(GPHN):c.64+6C>T
|
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NM_020806.5(GPHN):c.667G>A (p.Gly223Ser)
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NM_020806.5(GPHN):c.68G>C (p.Ser23Thr)
|
rs1490435764
|
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NM_020806.5(GPHN):c.692C>G (p.Ser231Cys)
|
rs2066293371
|
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NM_020806.5(GPHN):c.715G>C (p.Ala239Pro)
|
rs751089463
|
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NM_020806.5(GPHN):c.718A>G (p.Ile240Val)
|
|
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NM_020806.5(GPHN):c.728A>G (p.Lys243Arg)
|
rs2153561553
|
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NM_020806.5(GPHN):c.730-10T>A
|
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NM_020806.5(GPHN):c.730-10T>C
|
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NM_020806.5(GPHN):c.730-18T>C
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NM_020806.5(GPHN):c.730-5A>G
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NM_020806.5(GPHN):c.730-7G>T
|
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NM_020806.5(GPHN):c.732G>A (p.Lys244=)
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NM_020806.5(GPHN):c.734A>C (p.His245Pro)
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NM_020806.5(GPHN):c.741C>G (p.Phe247Leu)
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NM_020806.5(GPHN):c.749G>T (p.Ser250Ile)
|
rs1402811799
|
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NM_020806.5(GPHN):c.751C>T (p.Pro251Ser)
|
|
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NM_020806.5(GPHN):c.760G>A (p.Val254Ile)
|
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NM_020806.5(GPHN):c.763A>G (p.Met255Val)
|
|
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NM_020806.5(GPHN):c.767C>T (p.Ala256Val)
|
rs748108654
|
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NM_020806.5(GPHN):c.772G>A (p.Gly258Ser)
|
|
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NM_020806.5(GPHN):c.772G>T (p.Gly258Cys)
|
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NM_020806.5(GPHN):c.784A>G (p.Ile262Val)
|
|
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NM_020806.5(GPHN):c.796A>T (p.Ile266Phe)
|
rs199511542
|
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NM_020806.5(GPHN):c.805T>C (p.Ser269Pro)
|
|
|
NM_020806.5(GPHN):c.811C>G (p.His271Asp)
|
|
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NM_020806.5(GPHN):c.811C>T (p.His271Tyr)
|
|
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NM_020806.5(GPHN):c.818C>G (p.Thr273Arg)
|
|
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NM_020806.5(GPHN):c.82A>G (p.Arg28Gly)
|
|
|
NM_020806.5(GPHN):c.83G>A (p.Arg28Lys)
|
|
|
NM_020806.5(GPHN):c.844A>G (p.Ile282Val)
|
|
|
NM_020806.5(GPHN):c.857T>G (p.Val286Gly)
|
rs988238172
|
|
NM_020806.5(GPHN):c.865C>T (p.Leu289Phe)
|
|
|
NM_020806.5(GPHN):c.872G>A (p.Arg291Gln)
|
|
|
NM_020806.5(GPHN):c.884C>T (p.Ser295Phe)
|
rs767514370
|
|
NM_020806.5(GPHN):c.886C>T (p.Leu296Phe)
|
|
|
NM_020806.5(GPHN):c.908C>T (p.Ser303Leu)
|
rs1064796317
|
|
NM_020806.5(GPHN):c.913C>G (p.Arg305Gly)
|
|
|
NM_020806.5(GPHN):c.91G>A (p.Ala31Thr)
|
|
|
NM_020806.5(GPHN):c.922G>C (p.Ala308Pro)
|
rs2069243517
|
|
NM_020806.5(GPHN):c.931C>T (p.Arg311Cys)
|
rs779545541
|
|
NM_020806.5(GPHN):c.941C>T (p.Thr314Ile)
|
rs2069244587
|
|
NM_020806.5(GPHN):c.963A>G (p.Lys321=)
|
|
|
NM_020806.5(GPHN):c.977G>A (p.Cys326Tyr)
|
|
|
NM_020806.5(GPHN):c.983G>A (p.Ser328Asn)
|
|
|
NM_020806.5(GPHN):c.988G>C (p.Glu330Gln)
|
|
|