ClinVar Miner

List of variants studied for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 666
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HGVS dbSNP gnomAD frequency
NM_020806.5(GPHN):c.65-9T>C rs3759753 0.33000
NM_020806.5(GPHN):c.202-6T>C rs3784075 0.23447
NM_020806.5(GPHN):c.1734T>C (p.Gly578=) rs77465022 0.01208
NM_020806.5(GPHN):c.963+10G>A rs41310850 0.01014
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) rs41285470 0.00586
NM_020806.5(GPHN):c.1627-20G>T rs113201928 0.00379
NM_020806.5(GPHN):c.1414-4A>C rs111956954 0.00338
NM_020806.5(GPHN):c.1414-15C>T rs183159303 0.00204
NM_020806.5(GPHN):c.26C>G (p.Thr9Ser) rs150226537 0.00100
NM_020806.5(GPHN):c.2192G>C (p.Ser731Thr) rs142608987 0.00078
NM_020806.5(GPHN):c.2176+9T>C rs74939746 0.00031
NM_020806.5(GPHN):c.1145-16T>C rs766723067 0.00022
NM_020806.5(GPHN):c.633A>G (p.Gln211=) rs151322023 0.00022
NM_020806.5(GPHN):c.1144+9A>G rs200060659 0.00021
NM_020806.5(GPHN):c.271G>A (p.Ala91Thr) rs140021399 0.00021
NM_020806.5(GPHN):c.1971A>C (p.Leu657=) rs150799851 0.00017
NM_020806.5(GPHN):c.1911-7C>T rs201555766 0.00016
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr) rs121908539 0.00016
NM_020806.5(GPHN):c.1911-6T>C rs369800026 0.00013
NM_020806.5(GPHN):c.64+8G>C rs201245603 0.00011
NM_020806.5(GPHN):c.390-3C>T rs527251241 0.00010
NM_020806.5(GPHN):c.1173T>C (p.Asp391=) rs147709250 0.00009
NM_020806.5(GPHN):c.201+11G>A rs369973620 0.00009
NM_020806.5(GPHN):c.202-16T>A rs556470025 0.00009
NM_020806.5(GPHN):c.144-10C>T rs199759192 0.00008
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.1248C>T (p.Gly416=) rs780211082 0.00006
NM_020806.5(GPHN):c.1563A>G (p.Val521=) rs779098838 0.00006
NM_020806.5(GPHN):c.1944T>C (p.Asp648=) rs761997982 0.00006
NM_020806.5(GPHN):c.65-12A>G rs373821253 0.00006
NM_020806.5(GPHN):c.964-20A>T rs375968477 0.00006
NM_020806.5(GPHN):c.1976-7C>T rs565205810 0.00005
NM_020806.5(GPHN):c.49G>A (p.Val17Ile) rs550187024 0.00005
NM_020806.5(GPHN):c.828+1G>A rs533003321 0.00005
NM_020806.5(GPHN):c.144-13C>T rs767891827 0.00004
NM_020806.5(GPHN):c.156T>C (p.Thr52=) rs778715897 0.00004
NM_020806.5(GPHN):c.1836+19G>A rs374404298 0.00004
NM_020806.5(GPHN):c.1857G>C (p.Leu619=) rs976474723 0.00004
NM_020806.5(GPHN):c.1989G>A (p.Ser663=) rs529026517 0.00004
NM_020806.5(GPHN):c.369A>G (p.Thr123=) rs767272331 0.00004
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.909G>A (p.Ser303=) rs753770263 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.1413+12C>A rs755908672 0.00003
NM_020806.5(GPHN):c.1488C>T (p.Asp496=) rs761670163 0.00003
NM_020806.5(GPHN):c.1766A>G (p.Asn589Ser) rs903197780 0.00003
NM_020806.5(GPHN):c.1987T>C (p.Ser663Pro) rs762085852 0.00003
NM_020806.5(GPHN):c.198C>G (p.Ile66Met) rs1231315486 0.00003
NM_020806.5(GPHN):c.225T>C (p.Asp75=) rs768963547 0.00003
NM_020806.5(GPHN):c.457-6A>G rs768570275 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.1145-20C>T rs761300504 0.00002
NM_020806.5(GPHN):c.1293+8T>G rs769473957 0.00002
NM_020806.5(GPHN):c.1413+13C>T rs777486676 0.00002
NM_020806.5(GPHN):c.1473-7C>A rs377262106 0.00002
NM_020806.5(GPHN):c.1712G>A (p.Gly571Asp) rs762726630 0.00002
NM_020806.5(GPHN):c.1716C>T (p.Tyr572=) rs1432243324 0.00002
NM_020806.5(GPHN):c.1739T>C (p.Val580Ala) rs752190801 0.00002
NM_020806.5(GPHN):c.201+12C>T rs373068127 0.00002
NM_020806.5(GPHN):c.2022T>C (p.Pro674=) rs747423057 0.00002
NM_020806.5(GPHN):c.2176+17T>G rs371173068 0.00002
NM_020806.5(GPHN):c.2307A>G (p.Leu769=) rs747068379 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.564C>G (p.Ser188=) rs772179756 0.00002
NM_020806.5(GPHN):c.669T>C (p.Gly223=) rs1342866999 0.00002
NM_020806.5(GPHN):c.730-15T>C rs1452531100 0.00002
NM_020806.5(GPHN):c.771C>T (p.His257=) rs561779418 0.00002
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys) rs771584129 0.00001
NM_020806.5(GPHN):c.1020C>T (p.Val340=) rs763455984 0.00001
NM_020806.5(GPHN):c.1060T>C (p.Phe354Leu) rs1253036953 0.00001
NM_020806.5(GPHN):c.1095A>G (p.Thr365=) rs1255825578 0.00001
NM_020806.5(GPHN):c.1113G>A (p.Pro371=) rs770812117 0.00001
NM_020806.5(GPHN):c.1129A>G (p.Ile377Val) rs776300885 0.00001
NM_020806.5(GPHN):c.1140C>T (p.Tyr380=) rs760356358 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.1281A>G (p.Gln427=) rs146956552 0.00001
NM_020806.5(GPHN):c.1293+7T>C rs747784070 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.1404A>G (p.Glu468=) rs766600914 0.00001
NM_020806.5(GPHN):c.1414-14G>A rs1204105791 0.00001
NM_020806.5(GPHN):c.1441C>T (p.Leu481=) rs753681911 0.00001
NM_020806.5(GPHN):c.1584T>G (p.Val528=) rs1382914637 0.00001
NM_020806.5(GPHN):c.1617A>C (p.Thr539=) rs772232370 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.1722G>A (p.Thr574=) rs774161949 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.1836+18C>T rs957412039 0.00001
NM_020806.5(GPHN):c.188T>C (p.Ile63Thr) rs1432346978 0.00001
NM_020806.5(GPHN):c.1910+17G>T rs750327944 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.1975+19T>C rs751424941 0.00001
NM_020806.5(GPHN):c.1976-3C>T rs374685366 0.00001
NM_020806.5(GPHN):c.1977G>T (p.Gly659=) rs777015801 0.00001
NM_020806.5(GPHN):c.2034A>G (p.Lys678=) rs1025367988 0.00001
NM_020806.5(GPHN):c.2080-4G>T rs760469629 0.00001
NM_020806.5(GPHN):c.2124G>A (p.Arg708=) rs761412853 0.00001
NM_020806.5(GPHN):c.2205C>T (p.Ser735=) rs754213780 0.00001
NM_020806.5(GPHN):c.2235A>G (p.Leu745=) rs2083293606 0.00001
NM_020806.5(GPHN):c.2244G>A (p.Lys748=) rs1595521691 0.00001
NM_020806.5(GPHN):c.2256C>T (p.Tyr752=) rs1443875641 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.337C>T (p.Leu113=) rs1001485812 0.00001
NM_020806.5(GPHN):c.346C>G (p.Leu116Val) rs755780656 0.00001
NM_020806.5(GPHN):c.357A>T (p.Ser119=) rs1477246900 0.00001
NM_020806.5(GPHN):c.389+19T>C rs377724622 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.651A>G (p.Glu217=) rs1009464001 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.723T>G (p.Ala241=) rs1238342228 0.00001
NM_020806.5(GPHN):c.72T>C (p.Asp24=) rs777651189 0.00001
NM_020806.5(GPHN):c.777A>G (p.Glu259=) rs1215169627 0.00001
NM_020806.5(GPHN):c.779A>G (p.Gln260Arg) rs528992608 0.00001
NM_020806.5(GPHN):c.813T>C (p.His271=) rs1466356631 0.00001
NM_020806.5(GPHN):c.936C>T (p.Leu312=) rs746581893 0.00001
NM_020806.5(GPHN):c.963+7A>T rs1846707271 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.(?_67147805)_(67243259_?)del
NC_000014.8:g.(?_67147805)_(67291304_?)del
NC_000014.8:g.(?_67147805)_(67391029_?)del
NC_000014.8:g.(?_67243157)_(67647704_?)del
NC_000014.8:g.(?_67243162)_(67391029_?)del
NC_000014.8:g.(?_67243162)_(67490412_?)del
NC_000014.8:g.(?_67243162)_(67490412_?)dup
NC_000014.8:g.(?_67243172)_(67291294_?)del
NC_000014.8:g.(?_67243182)_(67432042_?)del
NC_000014.8:g.(?_67291172)_(67291304_?)dup
NC_000014.8:g.(?_67291172)_(67391029_?)del
NC_000014.8:g.(?_67291172)_(67490412_?)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)_(67432062_?)del
NC_000014.8:g.(?_67346637)_(67647654_?)dup
NC_000014.8:g.(?_67382700)_(67432062_?)del
NC_000014.8:g.(?_67431888)_(67525523_?)dup
NC_000014.8:g.(?_67431888)_(67647654_?)dup
NC_000014.8:g.(?_67490330)_(67555812_?)del
NC_000014.8:g.(?_67490330)_(67567648_?)del
NC_000014.8:g.(?_67490330)_(67635773_?)del
NC_000014.8:g.(?_67525346)_(67567648_?)del
NC_000014.8:g.(?_67555680)_(67647654_?)dup
NC_000014.8:g.(?_67567553)_(67589114_?)del
NC_000014.8:g.(?_67567553)_(67589114_?)dup
NC_000014.8:g.(?_67610059)_(67610186_?)dup
NC_000014.8:g.(?_67626112)_(67647654_?)del
NC_000014.8:g.(?_67631859)_(67635773_?)del
NC_000014.8:g.(?_67635630)_(67635773_?)del
NC_000014.9:g.(?_65957717)_(66508591_?)dup
NC_000014.9:g.(?_66508508)_(66508611_?)del
NC_000014.9:g.(?_66508508)_(66681205_?)del
NC_000014.9:g.(?_66776444)_(66776541_?)del
NC_000014.9:g.(?_66776464)_(66776521_?)del
NC_000014.9:g.(?_66824474)_(66824566_?)del
NC_000014.9:g.(?_66879919)_(66880053_?)del
NC_000014.9:g.(?_66915983)_(66916089_?)dup
NC_000014.9:g.(?_66965171)_(67100931_?)dup
NC_000014.9:g.(?_67122236)_(67122397_?)del
NM_020806.4(GPHN):c.65-?_201+?del
NM_020806.5(GPHN):c.1004C>A (p.Ala335Asp) rs1555466432
NM_020806.5(GPHN):c.1006+14C>G
NM_020806.5(GPHN):c.1006+2T>C
NM_020806.5(GPHN):c.1007-15T>C
NM_020806.5(GPHN):c.1007-3T>C
NM_020806.5(GPHN):c.1007-6G>A
NM_020806.5(GPHN):c.1013G>T (p.Ser338Ile)
NM_020806.5(GPHN):c.1014T>C (p.Ser338=)
NM_020806.5(GPHN):c.1028C>G (p.Thr343Ser)
NM_020806.5(GPHN):c.1035G>A (p.Val345=)
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.1074T>C (p.Ser358=)
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.1113G>C (p.Pro371=)
NM_020806.5(GPHN):c.1116G>A (p.Val372=)
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+19A>G rs755336327
NM_020806.5(GPHN):c.1144+6A>G rs753331634
NM_020806.5(GPHN):c.1144G>C (p.Asp382His) rs2153649234
NM_020806.5(GPHN):c.114T>C (p.Asn38=)
NM_020806.5(GPHN):c.1155G>C (p.Gly385=)
NM_020806.5(GPHN):c.1156C>T (p.Arg386Ter)
NM_020806.5(GPHN):c.1156_1159dup (p.Val387fs) rs2153668269
NM_020806.5(GPHN):c.1164T>C (p.Leu388=) rs1595086345
NM_020806.5(GPHN):c.1165G>C (p.Ala389Pro)
NM_020806.5(GPHN):c.1170A>T (p.Gln390His) rs1239161227
NM_020806.5(GPHN):c.117C>G (p.Leu39=) rs2153395428
NM_020806.5(GPHN):c.1182A>C (p.Ala394=)
NM_020806.5(GPHN):c.1191T>C (p.Asn397=) rs535587671
NM_020806.5(GPHN):c.1200C>T (p.Pro400=)
NM_020806.5(GPHN):c.1203C>T (p.Phe401=)
NM_020806.5(GPHN):c.1206del (p.Ala403fs)
NM_020806.5(GPHN):c.1223G>A (p.Gly408Asp)
NM_020806.5(GPHN):c.1223G>T (p.Gly408Val)
NM_020806.5(GPHN):c.1226A>G (p.Tyr409Cys)
NM_020806.5(GPHN):c.1233C>G (p.Val411=)
NM_020806.5(GPHN):c.1234C>T (p.Arg412Ter) rs2153668310
NM_020806.5(GPHN):c.1235G>A (p.Arg412Gln)
NM_020806.5(GPHN):c.1237+20T>A
NM_020806.5(GPHN):c.1237+2T>C
NM_020806.5(GPHN):c.1237+6T>C
NM_020806.5(GPHN):c.1238-11C>T rs2153678694
NM_020806.5(GPHN):c.1238-12T>A
NM_020806.5(GPHN):c.1238-14G>C
NM_020806.5(GPHN):c.1238-14G>T
NM_020806.5(GPHN):c.1238-18C>T
NM_020806.5(GPHN):c.1238-3_1238-2del
NM_020806.5(GPHN):c.1238-7C>G
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.1272G>A (p.Gly424=) rs1200380965
NM_020806.5(GPHN):c.1275dup (p.Ser426fs)
NM_020806.5(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.5(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020806.5(GPHN):c.1284T>C (p.Ala428=)
NM_020806.5(GPHN):c.1293+16del rs780721725
NM_020806.5(GPHN):c.1297A>G (p.Thr433Ala)
NM_020806.5(GPHN):c.12G>A (p.Glu4=)
NM_020806.5(GPHN):c.1305A>G (p.Thr435=) rs2153685260
NM_020806.5(GPHN):c.1327C>A (p.Arg443=)
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.1356C>T (p.Cys452=)
NM_020806.5(GPHN):c.1362T>C (p.Ala454=)
NM_020806.5(GPHN):c.1363G>A (p.Asp455Asn) rs2153685283
NM_020806.5(GPHN):c.1364A>T (p.Asp455Val)
NM_020806.5(GPHN):c.1389C>A (p.Thr463=) rs773577927
NM_020806.5(GPHN):c.1389C>T (p.Thr463=)
NM_020806.5(GPHN):c.1396A>G (p.Ile466Val)
NM_020806.5(GPHN):c.1413+2T>G rs2153685300
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.1414-10G>C rs1595186662
NM_020806.5(GPHN):c.1414-13_1414-12insTCGG rs750716077
NM_020806.5(GPHN):c.1414-4A>G
NM_020806.5(GPHN):c.1429G>C (p.Glu477Gln)
NM_020806.5(GPHN):c.143+13C>G rs2066914077
NM_020806.5(GPHN):c.143+9T>C
NM_020806.5(GPHN):c.143T>G (p.Leu48Trp)
NM_020806.5(GPHN):c.144-14T>C rs759867988
NM_020806.5(GPHN):c.144-18T>G
NM_020806.5(GPHN):c.144-1G>C
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.1464A>G (p.Gln488=)
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.1472+14A>C
NM_020806.5(GPHN):c.1472+18A>G
NM_020806.5(GPHN):c.1472+19G>A
NM_020806.5(GPHN):c.1472+1G>A
NM_020806.5(GPHN):c.1472+8C>T rs1595187122
NM_020806.5(GPHN):c.1473-14G>C
NM_020806.5(GPHN):c.1473-17T>C
NM_020806.5(GPHN):c.1473-1G>A
NM_020806.5(GPHN):c.1473-5T>G rs2078467170
NM_020806.5(GPHN):c.1473-7_1489del
NM_020806.5(GPHN):c.1473A>G (p.Arg491=)
NM_020806.5(GPHN):c.1475C>A (p.Pro492His)
NM_020806.5(GPHN):c.1479C>T (p.Ile493=) rs764075352
NM_020806.5(GPHN):c.1480G>A (p.Gly494Ser)
NM_020806.5(GPHN):c.1481G>T (p.Gly494Val)
NM_020806.5(GPHN):c.1482C>G (p.Gly494=)
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.1527C>T (p.His509=)
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.1560del (p.Thr520_Val521insTer)
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.1590G>A (p.Lys530=) rs2078473953
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.159A>C (p.Ile53=)
NM_020806.5(GPHN):c.1609A>T (p.Met537Leu)
NM_020806.5(GPHN):c.1620G>A (p.Gly540=) rs2153686935
NM_020806.5(GPHN):c.1625A>G (p.Glu542Gly)
NM_020806.5(GPHN):c.1626+13A>T
NM_020806.5(GPHN):c.1626+17T>G rs1357227453
NM_020806.5(GPHN):c.1627-13T>C
NM_020806.5(GPHN):c.1627-15T>C
NM_020806.5(GPHN):c.1627-9G>T
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.165A>G (p.Ala55=) rs753182110
NM_020806.5(GPHN):c.1666C>T (p.Arg556Ter) rs1595241291
NM_020806.5(GPHN):c.1667G>A (p.Arg556Gln)
NM_020806.5(GPHN):c.1668A>T (p.Arg556=)
NM_020806.5(GPHN):c.1685C>G (p.Thr562Ser)
NM_020806.5(GPHN):c.1686T>C (p.Thr562=) rs1595241496
NM_020806.5(GPHN):c.168C>A (p.Tyr56Ter)
NM_020806.5(GPHN):c.1691T>C (p.Leu564Pro)
NM_020806.5(GPHN):c.1702C>T (p.Gln568Ter)
NM_020806.5(GPHN):c.170A>G (p.Lys57Arg)
NM_020806.5(GPHN):c.1710T>C (p.His570=)
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+12A>T
NM_020806.5(GPHN):c.1748+14G>A
NM_020806.5(GPHN):c.1748+15T>C rs2079061090
NM_020806.5(GPHN):c.1748+17A>G
NM_020806.5(GPHN):c.1748+19T>G rs2153692322
NM_020806.5(GPHN):c.1748+6T>A
NM_020806.5(GPHN):c.1749-13T>A rs2153704862
NM_020806.5(GPHN):c.1749-15T>C rs371849325
NM_020806.5(GPHN):c.1749-16_1749-12del rs2080609035
NM_020806.5(GPHN):c.1749-17T>C
NM_020806.5(GPHN):c.1749-18_1749-13del
NM_020806.5(GPHN):c.1749-19T>C
NM_020806.5(GPHN):c.1749-7T>C
NM_020806.5(GPHN):c.1759T>C (p.Leu587=)
NM_020806.5(GPHN):c.1764C>G (p.Leu588=) rs2153704885
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.1770C>T (p.Ala590=) rs2080612380
NM_020806.5(GPHN):c.1776T>C (p.Asn592=)
NM_020806.5(GPHN):c.1789C>T (p.Arg597Cys)
NM_020806.5(GPHN):c.1796A>T (p.Asp599Val)
NM_020806.5(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020806.5(GPHN):c.1804A>C (p.Ile602Leu)
NM_020806.5(GPHN):c.1805T>G (p.Ile602Ser)
NM_020806.5(GPHN):c.1809A>G (p.Thr603=)
NM_020806.5(GPHN):c.1817G>A (p.Gly606Asp)
NM_020806.5(GPHN):c.1818T>C (p.Gly606=)
NM_020806.5(GPHN):c.1834A>T (p.Lys612Ter)
NM_020806.5(GPHN):c.1836+12A>T
NM_020806.5(GPHN):c.1836+18C>G rs957412039
NM_020806.5(GPHN):c.1836+9G>A
NM_020806.5(GPHN):c.1837-16_1837-11del
NM_020806.5(GPHN):c.1837-4G>A
NM_020806.5(GPHN):c.1837-8G>A
NM_020806.5(GPHN):c.1837-9T>C
NM_020806.5(GPHN):c.1838A>C (p.Asp613Ala) rs397518420
NM_020806.5(GPHN):c.1842T>C (p.Tyr614=) rs2153717711
NM_020806.5(GPHN):c.1845C>T (p.Leu615=) rs2153717712
NM_020806.5(GPHN):c.1886T>G (p.Phe629Cys)
NM_020806.5(GPHN):c.1891A>G (p.Arg631Gly) rs2153717725
NM_020806.5(GPHN):c.1896T>G (p.Val632=) rs2081834037
NM_020806.5(GPHN):c.1905A>G (p.Lys635=) rs2153717732
NM_020806.5(GPHN):c.1906C>T (p.Pro636Ser)
NM_020806.5(GPHN):c.1907dup (p.Gly637fs) rs2153717733
NM_020806.5(GPHN):c.1908A>T (p.Pro636=) rs2153717736
NM_020806.5(GPHN):c.1910+11C>A
NM_020806.5(GPHN):c.1910+6A>C
NM_020806.5(GPHN):c.1910+8A>C rs778997695
NM_020806.5(GPHN):c.1911-15_1911-14del
NM_020806.5(GPHN):c.1911-18A>G rs2082201850
NM_020806.5(GPHN):c.1911-4C>T
NM_020806.5(GPHN):c.1911-5T>C rs1595455743
NM_020806.5(GPHN):c.1911-9_1911-8dup rs757111014
NM_020806.5(GPHN):c.1912T>C (p.Leu638=) rs2140002386
NM_020806.5(GPHN):c.1917A>C (p.Pro639=)
NM_020806.5(GPHN):c.1918ACA[1] (p.Thr641del)
NM_020806.5(GPHN):c.1923A>G (p.Thr641=)
NM_020806.5(GPHN):c.1924T>A (p.Phe642Ile) rs2082204409
NM_020806.5(GPHN):c.1929A>C (p.Ala643=) rs2140002558
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.1947T>C (p.Gly649=)
NM_020806.5(GPHN):c.1968A>G (p.Ala656=)
NM_020806.5(GPHN):c.1975+15T>C rs2140003070
NM_020806.5(GPHN):c.1975+2T>C rs2140003018
NM_020806.5(GPHN):c.1984G>T (p.Val662Leu)
NM_020806.5(GPHN):c.1986A>G (p.Val662=) rs981625191
NM_020806.5(GPHN):c.1989G>T (p.Ser663=)
NM_020806.5(GPHN):c.1996G>T (p.Val666Phe)
NM_020806.5(GPHN):c.201+17T>G rs373546341
NM_020806.5(GPHN):c.201+3A>G rs2059387117
NM_020806.5(GPHN):c.202-15A>G
NM_020806.5(GPHN):c.202-18A>G
NM_020806.5(GPHN):c.202-20A>G
NM_020806.5(GPHN):c.202-3C>G
NM_020806.5(GPHN):c.2028G>A (p.Leu676=) rs2140056921
NM_020806.5(GPHN):c.2054C>G (p.Pro685Arg)
NM_020806.5(GPHN):c.2056C>T (p.Arg686Trp)
NM_020806.5(GPHN):c.2057G>A (p.Arg686Gln)
NM_020806.5(GPHN):c.2064C>G (p.Thr688=)
NM_020806.5(GPHN):c.2079+13A>G
NM_020806.5(GPHN):c.2079+16G>A
NM_020806.5(GPHN):c.2079+2T>C rs2082439915
NM_020806.5(GPHN):c.2079+7C>A
NM_020806.5(GPHN):c.2080-13C>T
NM_020806.5(GPHN):c.2080-14A>G rs56264248
NM_020806.5(GPHN):c.2080-14A>T rs56264248
NM_020806.5(GPHN):c.2080-17T>C
NM_020806.5(GPHN):c.2080-4G>A
NM_020806.5(GPHN):c.2080-6_2080-5del
NM_020806.5(GPHN):c.2083T>A (p.Ser695Thr)
NM_020806.5(GPHN):c.2085A>G (p.Ser695=)
NM_020806.5(GPHN):c.208C>T (p.Leu70=)
NM_020806.5(GPHN):c.2092G>A (p.Val698Ile)
NM_020806.5(GPHN):c.2094A>G (p.Val698=)
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.2109T>C (p.Arg703=)
NM_020806.5(GPHN):c.2118C>T (p.Tyr706=) rs2140195601
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.2131C>T (p.Leu711=)
NM_020806.5(GPHN):c.2133A>G (p.Leu711=)
NM_020806.5(GPHN):c.2152C>T (p.Pro718Ser)
NM_020806.5(GPHN):c.2154A>G (p.Pro718=) rs2140195870
NM_020806.5(GPHN):c.215A>G (p.Asp72Gly)
NM_020806.5(GPHN):c.2162G>T (p.Trp721Leu)
NM_020806.5(GPHN):c.2176+14A>T
NM_020806.5(GPHN):c.2176+19C>A
NM_020806.5(GPHN):c.2176G>A (p.Gly726Ser) rs2083216874
NM_020806.5(GPHN):c.2177-19T>A
NM_020806.5(GPHN):c.2177-8C>A rs2140211473
NM_020806.5(GPHN):c.2185A>G (p.Met729Val) rs2140211629
NM_020806.5(GPHN):c.2195G>A (p.Arg732His)
NM_020806.5(GPHN):c.2197C>T (p.Leu733=)
NM_020806.5(GPHN):c.2206A>G (p.Met736Val)
NM_020806.5(GPHN):c.2209C>G (p.Arg737Gly) rs1484644467
NM_020806.5(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.5(GPHN):c.2227T>C (p.Leu743=) rs1248581157
NM_020806.5(GPHN):c.2253G>A (p.Gln751=)
NM_020806.5(GPHN):c.2261A>C (p.Glu754Ala)
NM_020806.5(GPHN):c.2275G>A (p.Glu759Lys) rs1158733278
NM_020806.5(GPHN):c.2286T>C (p.Asp762=)
NM_020806.5(GPHN):c.2302C>T (p.Arg768Trp)
NM_020806.5(GPHN):c.2303G>A (p.Arg768Gln)
NM_020806.5(GPHN):c.238A>C (p.Asn80His) rs2153492969
NM_020806.5(GPHN):c.255T>A (p.Thr85=)
NM_020806.5(GPHN):c.262A>C (p.Thr88Pro) rs2153492975
NM_020806.5(GPHN):c.26C>A (p.Thr9Asn)
NM_020806.5(GPHN):c.270T>C (p.Phe90=)
NM_020806.5(GPHN):c.274C>G (p.Pro92Ala)
NM_020806.5(GPHN):c.274C>T (p.Pro92Ser)
NM_020806.5(GPHN):c.277C>T (p.Arg93Ter) rs2061323841
NM_020806.5(GPHN):c.294+13A>C
NM_020806.5(GPHN):c.294+16C>T
NM_020806.5(GPHN):c.294+1G>T
NM_020806.5(GPHN):c.294+5G>A rs2061324352
NM_020806.5(GPHN):c.295-12C>T
NM_020806.5(GPHN):c.295-14_295-10del
NM_020806.5(GPHN):c.295-19A>C
NM_020806.5(GPHN):c.295-8A>G rs2153533803
NM_020806.5(GPHN):c.315A>G (p.Glu105=) rs759432514
NM_020806.5(GPHN):c.315A>T (p.Glu105Asp)
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr) rs2063851742
NM_020806.5(GPHN):c.327A>G (p.Pro109=) rs1555430196
NM_020806.5(GPHN):c.343A>G (p.Met115Val)
NM_020806.5(GPHN):c.347T>A (p.Leu116Gln)
NM_020806.5(GPHN):c.353G>A (p.Gly118Glu)
NM_020806.5(GPHN):c.357A>G (p.Ser119=) rs1477246900
NM_020806.5(GPHN):c.361A>G (p.Asn121Asp)
NM_020806.5(GPHN):c.380T>C (p.Met127Thr)
NM_020806.5(GPHN):c.389+10T>C
NM_020806.5(GPHN):c.389+13C>G rs2153533857
NM_020806.5(GPHN):c.389+1G>A
NM_020806.5(GPHN):c.389+6A>G rs2063855339
NM_020806.5(GPHN):c.390-19A>C
NM_020806.5(GPHN):c.390-19A>G
NM_020806.5(GPHN):c.390-4T>C rs759324331
NM_020806.5(GPHN):c.390G>A (p.Arg130=)
NM_020806.5(GPHN):c.394G>C (p.Val132Leu) rs775387309
NM_020806.5(GPHN):c.396A>G (p.Val132=)
NM_020806.5(GPHN):c.400G>A (p.Gly134Arg)
NM_020806.5(GPHN):c.412A>G (p.Lys138Glu)
NM_020806.5(GPHN):c.413A>G (p.Lys138Arg) rs1337821246
NM_020806.5(GPHN):c.417G>A (p.Thr139=)
NM_020806.5(GPHN):c.422T>C (p.Ile141Thr) rs2153558082
NM_020806.5(GPHN):c.423A>C (p.Ile141=)
NM_020806.5(GPHN):c.429C>T (p.Asn143=)
NM_020806.5(GPHN):c.42A>C (p.Gln14His)
NM_020806.5(GPHN):c.42A>G (p.Gln14=)
NM_020806.5(GPHN):c.456+11T>C
NM_020806.5(GPHN):c.456+16A>G
NM_020806.5(GPHN):c.457-15T>G rs966531598
NM_020806.5(GPHN):c.457-5T>C
NM_020806.5(GPHN):c.457-7C>A
NM_020806.5(GPHN):c.468A>G (p.Gln156=)
NM_020806.5(GPHN):c.484C>T (p.Leu162=) rs2153561455
NM_020806.5(GPHN):c.486A>C (p.Leu162=)
NM_020806.5(GPHN):c.495C>T (p.Ala165=)
NM_020806.5(GPHN):c.501C>G (p.Asp167Glu)
NM_020806.5(GPHN):c.501C>T (p.Asp167=)
NM_020806.5(GPHN):c.508C>T (p.Arg170Cys) rs768057286
NM_020806.5(GPHN):c.516C>T (p.Ala172=) rs2153561468
NM_020806.5(GPHN):c.518T>A (p.Ile173Asn)
NM_020806.5(GPHN):c.518T>C (p.Ile173Thr)
NM_020806.5(GPHN):c.537G>A (p.Val179=) rs368771083
NM_020806.5(GPHN):c.541G>A (p.Asp181Asn)
NM_020806.5(GPHN):c.565C>T (p.Pro189Ser)
NM_020806.5(GPHN):c.576T>C (p.Pro192=)
NM_020806.5(GPHN):c.577_578del (p.Leu193fs) rs2153561495
NM_020806.5(GPHN):c.57C>A (p.Val19=)
NM_020806.5(GPHN):c.582C>G (p.Ser194=) rs142287862
NM_020806.5(GPHN):c.582C>T (p.Ser194=) rs142287862
NM_020806.5(GPHN):c.585T>G (p.Pro195=)
NM_020806.5(GPHN):c.586C>A (p.Pro196Thr)
NM_020806.5(GPHN):c.589_729+150del
NM_020806.5(GPHN):c.593C>T (p.Thr198Ile)
NM_020806.5(GPHN):c.596C>T (p.Thr199Ile)
NM_020806.5(GPHN):c.597C>T (p.Thr199=)
NM_020806.5(GPHN):c.601C>T (p.Pro201Ser)
NM_020806.5(GPHN):c.603C>G (p.Pro201=) rs2153561509
NM_020806.5(GPHN):c.60T>A (p.Leu20=)
NM_020806.5(GPHN):c.630dup (p.Gln211fs)
NM_020806.5(GPHN):c.635G>A (p.Cys212Tyr)
NM_020806.5(GPHN):c.639GGAAGA[1] (p.Glu217_Glu218del)
NM_020806.5(GPHN):c.64+10G>A rs768831916
NM_020806.5(GPHN):c.64+16G>C
NM_020806.5(GPHN):c.64+3A>G
NM_020806.5(GPHN):c.64+6C>A rs750672147
NM_020806.5(GPHN):c.64+6C>G rs750672147
NM_020806.5(GPHN):c.64+6C>T
NM_020806.5(GPHN):c.64+7G>A rs758501355
NM_020806.5(GPHN):c.64+9G>C rs1555369179
NM_020806.5(GPHN):c.645G>A (p.Glu215=)
NM_020806.5(GPHN):c.65-16C>T rs1234425717
NM_020806.5(GPHN):c.65-1G>C rs2066910297
NM_020806.5(GPHN):c.65-6A>G
NM_020806.5(GPHN):c.65-9del
NM_020806.5(GPHN):c.654G>A (p.Glu218=)
NM_020806.5(GPHN):c.666T>C (p.Ser222=)
NM_020806.5(GPHN):c.667G>A (p.Gly223Ser)
NM_020806.5(GPHN):c.684A>G (p.Glu228=) rs140585415
NM_020806.5(GPHN):c.68G>C (p.Ser23Thr) rs1490435764
NM_020806.5(GPHN):c.692C>G (p.Ser231Cys) rs2066293371
NM_020806.5(GPHN):c.696A>G (p.Ser232=)
NM_020806.5(GPHN):c.6G>T (p.Ala2=)
NM_020806.5(GPHN):c.704_705del (p.Ile235fs)
NM_020806.5(GPHN):c.715G>C (p.Ala239Pro) rs751089463
NM_020806.5(GPHN):c.718A>G (p.Ile240Val)
NM_020806.5(GPHN):c.728A>G (p.Lys243Arg) rs2153561553
NM_020806.5(GPHN):c.729+13A>C
NM_020806.5(GPHN):c.730-10T>A
NM_020806.5(GPHN):c.730-10T>C
NM_020806.5(GPHN):c.730-15T>A rs1452531100
NM_020806.5(GPHN):c.730-18T>C
NM_020806.5(GPHN):c.730-1G>A rs1567108397
NM_020806.5(GPHN):c.730-5A>G
NM_020806.5(GPHN):c.730-7G>A
NM_020806.5(GPHN):c.730-7G>T
NM_020806.5(GPHN):c.732G>A (p.Lys244=)
NM_020806.5(GPHN):c.734A>C (p.His245Pro)
NM_020806.5(GPHN):c.741C>G (p.Phe247Leu)
NM_020806.5(GPHN):c.747del (p.Ser250fs)
NM_020806.5(GPHN):c.749G>T (p.Ser250Ile) rs1402811799
NM_020806.5(GPHN):c.751C>T (p.Pro251Ser)
NM_020806.5(GPHN):c.760G>A (p.Val254Ile)
NM_020806.5(GPHN):c.763A>G (p.Met255Val)
NM_020806.5(GPHN):c.767C>T (p.Ala256Val) rs748108654
NM_020806.5(GPHN):c.768A>G (p.Ala256=)
NM_020806.5(GPHN):c.770_771del (p.His257fs)
NM_020806.5(GPHN):c.772G>A (p.Gly258Ser)
NM_020806.5(GPHN):c.772G>T (p.Gly258Cys)
NM_020806.5(GPHN):c.784A>G (p.Ile262Val)
NM_020806.5(GPHN):c.796A>T (p.Ile266Phe) rs199511542
NM_020806.5(GPHN):c.802_803insG (p.Tyr268Ter)
NM_020806.5(GPHN):c.805T>C (p.Ser269Pro)
NM_020806.5(GPHN):c.811C>G (p.His271Asp)
NM_020806.5(GPHN):c.811C>T (p.His271Tyr)
NM_020806.5(GPHN):c.818C>G (p.Thr273Arg)
NM_020806.5(GPHN):c.828+14C>G
NM_020806.5(GPHN):c.828+18T>G
NM_020806.5(GPHN):c.828+18del
NM_020806.5(GPHN):c.828+7C>T rs988027321
NM_020806.5(GPHN):c.828+8_828+9del rs764346460
NM_020806.5(GPHN):c.829-12C>T
NM_020806.5(GPHN):c.829-20T>A
NM_020806.5(GPHN):c.829-20T>C
NM_020806.5(GPHN):c.82A>G (p.Arg28Gly)
NM_020806.5(GPHN):c.837C>T (p.Asp279=)
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.867C>G (p.Leu289=)
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.903A>G (p.Ser301=)
NM_020806.5(GPHN):c.904G>T (p.Glu302Ter)
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.963+11T>A rs201592727
NM_020806.5(GPHN):c.963+18G>A
NM_020806.5(GPHN):c.963+18_963+47del
NM_020806.5(GPHN):c.963+20A>G
NM_020806.5(GPHN):c.963A>G (p.Lys321=)
NM_020806.5(GPHN):c.964-11T>C
NM_020806.5(GPHN):c.964-4A>G
NM_020806.5(GPHN):c.975G>A (p.Arg325=)
NM_020806.5(GPHN):c.977G>A (p.Cys326Tyr)
NM_020806.5(GPHN):c.978C>T (p.Cys326=) rs188690745
NM_020806.5(GPHN):c.983G>A (p.Ser328Asn)
NM_020806.5(GPHN):c.988G>C (p.Glu330Gln)
NM_020806.5(GPHN):c.9C>T (p.Thr3=) rs2057883967

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