ClinVar Miner

List of variants studied for glycogen storage disease IXa1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 353
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HGVS dbSNP gnomAD frequency
NM_000292.3(PHKA2):c.2361-12A>C rs148877451 0.02944
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284 0.01392
NM_000292.3(PHKA2):c.718-3C>T rs140662042 0.01175
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452 0.00939
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929 0.00520
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) rs35010660 0.00498
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974 0.00409
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825 0.00332
NM_000292.3(PHKA2):c.2806+13C>A rs186550641 0.00296
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171 0.00237
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) rs139852230 0.00136
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_000292.3(PHKA2):c.1964-7A>G rs376658808 0.00126
NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys) rs144570979 0.00119
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=) rs141034910 0.00115
NM_000292.3(PHKA2):c.3336+17G>A rs199840021 0.00106
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=) rs148153758 0.00102
NM_000292.3(PHKA2):c.1042-17A>G rs368817576 0.00093
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=) rs144151433 0.00083
NM_000292.3(PHKA2):c.3112-14T>C rs371304628 0.00081
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352 0.00081
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met) rs148176463 0.00075
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) rs138395800 0.00068
NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser) rs145406549 0.00055
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu) rs17856445 0.00039
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr) rs150445034 0.00037
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met) rs142123423 0.00034
NM_000292.3(PHKA2):c.132G>A (p.Val44=) rs61733285 0.00030
NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=) rs200550207 0.00023
NM_000292.3(PHKA2):c.339C>T (p.His113=) rs142799459 0.00022
NM_000292.3(PHKA2):c.295G>A (p.Val99Met) rs200281934 0.00020
NM_000292.3(PHKA2):c.2807-18C>T rs373513953 0.00015
NM_000292.3(PHKA2):c.3038G>A (p.Arg1013Gln) rs753106449 0.00013
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=) rs748792637 0.00013
NM_000292.3(PHKA2):c.1246-12C>T rs759418361 0.00012
NM_000292.3(PHKA2):c.1308T>G (p.Pro436=) rs148492015 0.00012
NM_000292.3(PHKA2):c.1138-15T>G rs199624054 0.00011
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His) rs369400689 0.00011
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=) rs143721284 0.00011
NM_000292.3(PHKA2):c.1978C>T (p.Leu660Phe) rs773591957 0.00009
NM_000292.3(PHKA2):c.477C>T (p.Leu159=) rs187396860 0.00009
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr) rs746875668 0.00007
NM_000292.3(PHKA2):c.1793+18T>A rs567115484 0.00007
NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile) rs199948654 0.00007
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser) rs145952475 0.00007
NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg) rs140703161 0.00006
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn) rs747153540 0.00006
NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=) rs773943898 0.00006
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655 0.00005
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=) rs770108234 0.00005
NM_000292.3(PHKA2):c.2137+5G>A rs372314504 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile) rs1389980232 0.00004
NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala) rs137958637 0.00004
NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala) rs199904295 0.00004
NM_000292.3(PHKA2):c.2677-17G>A rs755254108 0.00004
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677 0.00004
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys) rs780391791 0.00004
NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=) rs768419165 0.00004
NM_000292.3(PHKA2):c.585G>A (p.Pro195=) rs143424727 0.00004
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353 0.00003
NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn) rs756254299 0.00003
NM_000292.3(PHKA2):c.200G>A (p.Arg67His) rs768524028 0.00003
NM_000292.3(PHKA2):c.285+12C>T rs765795350 0.00003
NM_000292.3(PHKA2):c.718-19C>T rs770389791 0.00003
NM_000292.3(PHKA2):c.1702C>T (p.Arg568Cys) rs757043355 0.00002
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp) rs757718008 0.00002
NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg) rs2048680804 0.00002
NM_000292.3(PHKA2):c.3111+5C>T rs756217257 0.00002
NM_000292.3(PHKA2):c.3282+14C>T rs760202357 0.00002
NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr) rs750886848 0.00002
NM_000292.3(PHKA2):c.869G>A (p.Arg290His) rs186632999 0.00002
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys) rs1287580250 0.00001
NM_000292.3(PHKA2):c.1245+9T>C rs1462014190 0.00001
NM_000292.3(PHKA2):c.1460-5A>C rs1409969328 0.00001
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln) rs753412659 0.00001
NM_000292.3(PHKA2):c.1793+8G>T rs761684724 0.00001
NM_000292.3(PHKA2):c.1889A>G (p.Asn630Ser) rs760621953 0.00001
NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu) rs368123691 0.00001
NM_000292.3(PHKA2):c.2385C>G (p.Leu795=) rs777278113 0.00001
NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile) rs766866500 0.00001
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser) rs747280022 0.00001
NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val) rs373884791 0.00001
NM_000292.3(PHKA2):c.2622A>G (p.Thr874=) rs1249240827 0.00001
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe) rs2047817433 0.00001
NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln) rs201611776 0.00001
NM_000292.3(PHKA2):c.2868C>T (p.His956=) rs779163512 0.00001
NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro) rs757379156 0.00001
NM_000292.3(PHKA2):c.3189G>T (p.Arg1063=) rs775954610 0.00001
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=) rs749097024 0.00001
NM_000292.3(PHKA2):c.3601T>C (p.Tyr1201His) rs373407231 0.00001
NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg) rs202065000 0.00001
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr) rs749441642 0.00001
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290 0.00001
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val) rs367696431 0.00001
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.10:g.(?_18925998)_(18929098_?)del
NC_000023.11:g.(?_18920012)_(18920221_?)del
NC_000023.11:g.(?_18929208)_(18983952_?)del
NC_000023.11:g.18905859_18905861del rs2047801126
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.1042-1G>A rs2048391185
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) rs1556007472
NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)
NM_000292.3(PHKA2):c.1107G>T (p.Val369=)
NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)
NM_000292.3(PHKA2):c.1137+17G>A
NM_000292.3(PHKA2):c.1137+2T>C rs2147946477
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)
NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)
NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)
NM_000292.3(PHKA2):c.1188G>A (p.Gly396=)
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) rs2048317403
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter) rs2147934341
NM_000292.3(PHKA2):c.1215C>T (p.Ser405=) rs368320508
NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=)
NM_000292.3(PHKA2):c.1232C>T (p.Ser411Leu)
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.1324+11G>C
NM_000292.3(PHKA2):c.1324+1G>A rs1289077489
NM_000292.3(PHKA2):c.1325-1G>A
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.1420C>T (p.Gln474Ter)
NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)
NM_000292.3(PHKA2):c.147C>A (p.Tyr49Ter) rs768063119
NM_000292.3(PHKA2):c.147C>T (p.Tyr49=)
NM_000292.3(PHKA2):c.1489C>T (p.Arg497Ter)
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln) rs2048199652
NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)
NM_000292.3(PHKA2):c.1502del (p.His501fs)
NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)
NM_000292.3(PHKA2):c.1520C>T (p.Thr507Ile)
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) rs1601739229
NM_000292.3(PHKA2):c.1569+3G>A
NM_000292.3(PHKA2):c.1632G>A (p.Arg544=) rs201710031
NM_000292.3(PHKA2):c.1653C>T (p.Cys551=)
NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)
NM_000292.3(PHKA2):c.1661G>A (p.Trp554Ter)
NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp) rs2147995267
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.1715-14C>T
NM_000292.3(PHKA2):c.1715C>G (p.Thr572Arg)
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val) rs370965746
NM_000292.3(PHKA2):c.1794-8_1794-6del
NM_000292.3(PHKA2):c.1794-8_1812del rs1556000892
NM_000292.3(PHKA2):c.18T>C (p.Asn6=) rs954792469
NM_000292.3(PHKA2):c.1942C>T (p.Leu648=)
NM_000292.3(PHKA2):c.1964-15C>A
NM_000292.3(PHKA2):c.1964-3C>T rs1035866155
NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)
NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)
NM_000292.3(PHKA2):c.1980T>C (p.Leu660=)
NM_000292.3(PHKA2):c.199C>A (p.Arg67Ser)
NM_000292.3(PHKA2):c.1A>G (p.Met1Val) rs2148058081
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
NM_000292.3(PHKA2):c.216C>T (p.Ala72=)
NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) rs1569300538
NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)
NM_000292.3(PHKA2):c.2257G>A (p.Asp753Asn)
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) rs1601714299
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) rs137852286
NM_000292.3(PHKA2):c.2324A>G (p.Asp775Gly)
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) rs1601780766
NM_000292.3(PHKA2):c.2360+12A>G
NM_000292.3(PHKA2):c.237+1G>T
NM_000292.3(PHKA2):c.2373G>T (p.Trp791Cys)
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs) rs2147859879
NM_000292.3(PHKA2):c.238-18T>G
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser) rs886801187
NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)
NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000292.3(PHKA2):c.2445C>T (p.Gly815=)
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) rs1569298646
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys) rs2047851598
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro) rs1569298640
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys) rs1234436850
NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC (p.Leu837delinsHisValTer) rs2147859144
NM_000292.3(PHKA2):c.2517+5G>A rs2047850403
NM_000292.3(PHKA2):c.2518-1G>A rs2047834385
NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter) rs2147991282
NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp)
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2597+2dup rs2047830748
NM_000292.3(PHKA2):c.2598-14A>G
NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)
NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)
NM_000292.3(PHKA2):c.2613G>A (p.Glu871=)
NM_000292.3(PHKA2):c.2614G>T (p.Glu872Ter) rs2147855177
NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr) rs2147991232
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) rs1569297379
NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.2788C>T (p.Arg930Trp)
NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)
NM_000292.3(PHKA2):c.2806+11C>T
NM_000292.3(PHKA2):c.2806+12G>A
NM_000292.3(PHKA2):c.2806+16C>T
NM_000292.3(PHKA2):c.2807-11T>C
NM_000292.3(PHKA2):c.285+2_285+5del rs2048714302
NM_000292.3(PHKA2):c.286-10del rs766261786
NM_000292.3(PHKA2):c.286-15T>A
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro) rs2147851573
NM_000292.3(PHKA2):c.2889G>C (p.Glu963Asp)
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
NM_000292.3(PHKA2):c.2895C>T (p.Gly965=)
NM_000292.3(PHKA2):c.2955C>T (p.His985=)
NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)
NM_000292.3(PHKA2):c.2977A>G (p.Thr993Ala)
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) rs137852285
NM_000292.3(PHKA2):c.3027+10C>T
NM_000292.3(PHKA2):c.3027+8C>A
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val) rs1601700586
NM_000292.3(PHKA2):c.3029dup (p.Met1010fs)
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3111+14G>A rs759056537
NM_000292.3(PHKA2):c.3111+14G>T rs759056537
NM_000292.3(PHKA2):c.3111G>A (p.Ala1037=)
NM_000292.3(PHKA2):c.3112-2A>G
NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) rs137852287
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu)
NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=)
NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)
NM_000292.3(PHKA2):c.3174C>T (p.Ile1058=)
NM_000292.3(PHKA2):c.3187C>T (p.Arg1063Trp)
NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)
NM_000292.3(PHKA2):c.3282+15G>A
NM_000292.3(PHKA2):c.3282+8G>A
NM_000292.3(PHKA2):c.3283-1G>C rs2047516641
NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
NM_000292.3(PHKA2):c.3313C>T (p.Leu1105Phe)
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs) rs2147806873
NM_000292.3(PHKA2):c.3327_3332dup (p.Arg1111_Glu1112insThrArg) rs2147806786
NM_000292.3(PHKA2):c.3329_3336+6del
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) rs1601689006
NM_000292.3(PHKA2):c.3336+10G>T
NM_000292.3(PHKA2):c.3336+16C>T
NM_000292.3(PHKA2):c.3336+1dup rs2047514376
NM_000292.3(PHKA2):c.3336+20G>T
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)
NM_000292.3(PHKA2):c.3337-6T>C
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3344C>T (p.Pro1115Leu)
NM_000292.3(PHKA2):c.3349G>A (p.Glu1117Lys)
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg) rs2047493147
NM_000292.3(PHKA2):c.3357G>A (p.Lys1119=)
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs) rs2047492720
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter) rs2047492649
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)
NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)
NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)
NM_000292.3(PHKA2):c.3422T>A (p.Val1141Glu)
NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs) rs2047490848
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn) rs1601776489
NM_000292.3(PHKA2):c.3474C>T (p.Ile1158=)
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu) rs2147802543
NM_000292.3(PHKA2):c.3492G>A (p.Val1164=)
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=) rs754254758
NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=)
NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) rs2047487518
NM_000292.3(PHKA2):c.354C>T (p.Thr118=)
NM_000292.3(PHKA2):c.3557A>C (p.Asp1186Ala)
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.3615G>C (p.Pro1205=)
NM_000292.3(PHKA2):c.3624T>G (p.Ala1208=)
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg) rs1601685360
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3638C>G (p.Thr1213Ser)
NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle) rs2047467477
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs) rs2147799052
NM_000292.3(PHKA2):c.3659CTT[1] (p.Ser1221del)
NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)
NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=) rs369001472
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr) rs2047465246
NM_000292.3(PHKA2):c.391G>A (p.Gly131Ser)
NM_000292.3(PHKA2):c.392G>T (p.Gly131Val)
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.395A>G (p.His132Arg) rs137852291
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000292.3(PHKA2):c.421_423del (p.Phe141del) rs587776732
NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)
NM_000292.3(PHKA2):c.454+10G>A
NM_000292.3(PHKA2):c.454+9G>C
NM_000292.3(PHKA2):c.455-5_463del
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile) rs2147981456
NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)
NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)
NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)
NM_000292.3(PHKA2):c.547A>G (p.Met183Val)
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp) rs774250532
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) rs137852290
NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg) rs2147972085
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) rs137852295
NM_000292.3(PHKA2):c.584del (p.Pro195fs)
NM_000292.3(PHKA2):c.586G>A (p.Glu196Lys)
NM_000292.3(PHKA2):c.717+1G>A
NM_000292.3(PHKA2):c.717+1G>T rs587776731
NM_000292.3(PHKA2):c.718-2A>G rs1601763099
NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu)
NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg) rs2147963178
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu) rs2048489995
NM_000292.3(PHKA2):c.750_752del (p.Thr251del) rs587776733
NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg) rs2147962993
NM_000292.3(PHKA2):c.79-2A>T
NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg) rs2049222511
NM_000292.3(PHKA2):c.84C>T (p.Pro28=)
NM_000292.3(PHKA2):c.858G>A (p.Lys286=)
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro) rs1359540820
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) rs137852289
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser) rs2147958526
NM_000292.3(PHKA2):c.899G>T (p.Gly300Val)
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.919-1G>A rs2147954328
NM_000292.3(PHKA2):c.919-2A>G rs2147954334
NM_000292.3(PHKA2):c.93del (p.Leu32fs) rs2048744617
NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr) rs1601758342

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