NM_002637.4(PHKA1):c.*553C>T
|
rs782055740
|
0.00108
|
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn)
|
rs782344973
|
0.00095
|
NM_002637.4(PHKA1):c.*1275A>G
|
rs782306248
|
0.00069
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys)
|
rs138752449
|
0.00036
|
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp)
|
rs151279562
|
0.00035
|
NM_002637.4(PHKA1):c.2756G>T (p.Arg919Leu)
|
rs1349683999
|
0.00035
|
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)
|
rs144813238
|
0.00034
|
NM_002637.4(PHKA1):c.*1865G>T
|
rs782659275
|
0.00027
|
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro)
|
rs138195744
|
0.00026
|
NM_002637.4(PHKA1):c.*887A>G
|
rs1473576299
|
0.00024
|
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser)
|
rs782365144
|
0.00015
|
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)
|
rs143802511
|
0.00013
|
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)
|
rs144583035
|
0.00011
|
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln)
|
rs201234013
|
0.00010
|
NM_002637.4(PHKA1):c.*1303T>C
|
rs782190105
|
0.00009
|
NM_002637.4(PHKA1):c.*674A>C
|
rs1028190311
|
0.00009
|
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys)
|
rs1474761630
|
0.00009
|
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys)
|
rs144670958
|
0.00008
|
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys)
|
rs1382212255
|
0.00008
|
NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys)
|
rs782509826
|
0.00007
|
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe)
|
rs781878909
|
0.00007
|
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
|
rs782528091
|
0.00007
|
NM_002637.4(PHKA1):c.*1151C>T
|
rs782605900
|
0.00006
|
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn)
|
rs113352627
|
0.00006
|
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val)
|
rs782403774
|
0.00006
|
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
|
rs782453258
|
0.00006
|
NM_002637.4(PHKA1):c.*467T>C
|
rs970811941
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
NM_002637.4(PHKA1):c.*1797A>G
|
rs1296603872
|
0.00004
|
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly)
|
rs782036622
|
0.00004
|
NM_002637.4(PHKA1):c.1366A>G (p.Lys456Glu)
|
rs868916849
|
0.00004
|
NM_002637.4(PHKA1):c.751A>G (p.Thr251Ala)
|
rs1318462080
|
0.00004
|
NM_002637.4(PHKA1):c.*2110A>G
|
rs1380630404
|
0.00003
|
NM_002637.4(PHKA1):c.1297G>A (p.Val433Ile)
|
rs369136290
|
0.00003
|
NM_002637.4(PHKA1):c.2006C>T (p.Ala669Val)
|
rs1556276769
|
0.00003
|
NM_002637.4(PHKA1):c.2480G>A (p.Arg827Gln)
|
rs370717042
|
0.00003
|
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
|
rs1179242925
|
0.00003
|
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)
|
rs782546754
|
0.00003
|
NM_002637.4(PHKA1):c.3436G>A (p.Gly1146Arg)
|
rs782068991
|
0.00003
|
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met)
|
rs1025423127
|
0.00003
|
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys)
|
rs1556296540
|
0.00002
|
NM_002637.4(PHKA1):c.1540C>T (p.Arg514Trp)
|
rs181530232
|
0.00002
|
NM_002637.4(PHKA1):c.184C>T (p.Arg62Trp)
|
rs781996165
|
0.00002
|
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
|
rs782102345
|
0.00002
|
NM_002637.4(PHKA1):c.3088A>G (p.Met1030Val)
|
rs782360415
|
0.00002
|
NM_002637.4(PHKA1):c.3166C>T (p.Arg1056Cys)
|
rs782514332
|
0.00002
|
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr)
|
rs375128462
|
0.00002
|
NM_002637.4(PHKA1):c.3297+5G>A
|
rs781901953
|
0.00002
|
NM_002637.4(PHKA1):c.3622G>A (p.Ala1208Thr)
|
rs782814716
|
0.00002
|
NM_002637.4(PHKA1):c.442A>G (p.Met148Val)
|
rs781837256
|
0.00002
|
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
|
rs782491605
|
0.00001
|
NM_002637.4(PHKA1):c.1214C>T (p.Ser405Phe)
|
rs199582889
|
0.00001
|
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)
|
rs782651487
|
0.00001
|
NM_002637.4(PHKA1):c.1348G>A (p.Glu450Lys)
|
rs782310573
|
0.00001
|
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)
|
rs782400389
|
0.00001
|
NM_002637.4(PHKA1):c.1459+4A>G
|
rs1203297354
|
0.00001
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp)
|
rs782789642
|
0.00001
|
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
|
rs782702439
|
0.00001
|
NM_002637.4(PHKA1):c.3034-6T>A
|
rs199530028
|
0.00001
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
NM_002637.4(PHKA1):c.3170G>A (p.Arg1057Gln)
|
rs184743934
|
0.00001
|
NM_002637.4(PHKA1):c.3250G>A (p.Gly1084Arg)
|
rs1181595611
|
0.00001
|
NM_002637.4(PHKA1):c.3331G>A (p.Val1111Met)
|
rs782099054
|
0.00001
|
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val)
|
rs1162142066
|
0.00001
|
NM_002637.4(PHKA1):c.3626C>T (p.Thr1209Ile)
|
rs782528795
|
0.00001
|
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly)
|
rs782659023
|
0.00001
|
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
|
rs1185410324
|
0.00001
|
NC_000023.10:g.(?_71854985)_(71933728_?)dup
|
|
|
NC_000023.10:g.(?_71875950)_(71925114_?)dup
|
|
|
NM_002637.4(PHKA1):c.*2056T>A
|
rs2052298372
|
|
NM_002637.4(PHKA1):c.*503C>T
|
rs1433119416
|
|
NM_002637.4(PHKA1):c.*772C>T
|
rs2052317488
|
|
NM_002637.4(PHKA1):c.1016G>A (p.Gly339Glu)
|
|
|
NM_002637.4(PHKA1):c.1057G>A (p.Glu353Lys)
|
|
|
NM_002637.4(PHKA1):c.1072G>C (p.Val358Leu)
|
|
|
NM_002637.4(PHKA1):c.1082A>G (p.Lys361Arg)
|
rs2147761614
|
|
NM_002637.4(PHKA1):c.1100C>T (p.Pro367Leu)
|
|
|
NM_002637.4(PHKA1):c.1191A>T (p.Lys397Asn)
|
|
|
NM_002637.4(PHKA1):c.1222A>G (p.Ile408Val)
|
|
|
NM_002637.4(PHKA1):c.1222A>T (p.Ile408Phe)
|
rs2147760351
|
|
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys)
|
rs2147757116
|
|
NM_002637.4(PHKA1):c.1316T>C (p.Val439Ala)
|
|
|
NM_002637.4(PHKA1):c.1361T>C (p.Ile454Thr)
|
|
|
NM_002637.4(PHKA1):c.1378A>G (p.Ile460Val)
|
|
|
NM_002637.4(PHKA1):c.1393A>G (p.Ile465Val)
|
|
|
NM_002637.4(PHKA1):c.1416A>C (p.Arg472Ser)
|
|
|
NM_002637.4(PHKA1):c.1459+6_1459+8del
|
rs782679415
|
|
NM_002637.4(PHKA1):c.1460-12A>G
|
|
|
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)
|
rs2054403951
|
|
NM_002637.4(PHKA1):c.1549A>G (p.Ile517Val)
|
|
|
NM_002637.4(PHKA1):c.1592A>G (p.Tyr531Cys)
|
|
|
NM_002637.4(PHKA1):c.1623A>C (p.Glu541Asp)
|
|
|
NM_002637.4(PHKA1):c.1654A>G (p.Ser552Gly)
|
|
|
NM_002637.4(PHKA1):c.1657C>T (p.Arg553Cys)
|
|
|
NM_002637.4(PHKA1):c.1663C>T (p.Arg555Trp)
|
|
|
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
|
|
|
NM_002637.4(PHKA1):c.1715-16T>C
|
|
|
NM_002637.4(PHKA1):c.1726A>G (p.Thr576Ala)
|
|
|
NM_002637.4(PHKA1):c.1745T>C (p.Ile582Thr)
|
|
|
NM_002637.4(PHKA1):c.1746C>G (p.Ile582Met)
|
|
|
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro)
|
rs2053084669
|
|
NM_002637.4(PHKA1):c.1754C>T (p.Ala585Val)
|
|
|
NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln)
|
|
|
NM_002637.4(PHKA1):c.1819T>C (p.Phe607Leu)
|
|
|
NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys)
|
rs2054403362
|
|
NM_002637.4(PHKA1):c.184C>G (p.Arg62Gly)
|
|
|
NM_002637.4(PHKA1):c.1945G>C (p.Asp649His)
|
|
|
NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala)
|
|
|
NM_002637.4(PHKA1):c.1978G>A (p.Val660Ile)
|
|
|
NM_002637.4(PHKA1):c.199C>G (p.Arg67Gly)
|
|
|
NM_002637.4(PHKA1):c.2003T>C (p.Leu668Ser)
|
rs2052967940
|
|
NM_002637.4(PHKA1):c.2006C>A (p.Ala669Glu)
|
|
|
NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr)
|
|
|
NM_002637.4(PHKA1):c.2033C>A (p.Ala678Asp)
|
rs1247275284
|
|
NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr)
|
|
|
NM_002637.4(PHKA1):c.2062C>T (p.Arg688Trp)
|
|
|
NM_002637.4(PHKA1):c.207G>C (p.Glu69Asp)
|
|
|
NM_002637.4(PHKA1):c.2092G>A (p.Asp698Asn)
|
rs1064796509
|
|
NM_002637.4(PHKA1):c.2093A>T (p.Asp698Val)
|
|
|
NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del)
|
|
|
NM_002637.4(PHKA1):c.2102C>T (p.Ser701Phe)
|
|
|
NM_002637.4(PHKA1):c.2146A>G (p.Met716Val)
|
|
|
NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)
|
|
|
NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln)
|
|
|
NM_002637.4(PHKA1):c.219G>T (p.Lys73Asn)
|
|
|
NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn)
|
|
|
NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr)
|
|
|
NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln)
|
|
|
NM_002637.4(PHKA1):c.2219A>G (p.Gln740Arg)
|
rs2147705472
|
|
NM_002637.4(PHKA1):c.2243G>A (p.Arg748His)
|
rs2147704831
|
|
NM_002637.4(PHKA1):c.2280G>C (p.Glu760Asp)
|
|
|
NM_002637.4(PHKA1):c.2369+12A>G
|
|
|
NM_002637.4(PHKA1):c.2370A>G (p.Lys790=)
|
|
|
NM_002637.4(PHKA1):c.2379C>A (p.Asp793Glu)
|
|
|
NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser)
|
|
|
NM_002637.4(PHKA1):c.2384A>T (p.Asn795Ile)
|
|
|
NM_002637.4(PHKA1):c.2393T>C (p.Leu798Ser)
|
|
|
NM_002637.4(PHKA1):c.2416G>C (p.Val806Leu)
|
|
|
NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys)
|
|
|
NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys)
|
|
|
NM_002637.4(PHKA1):c.2471G>A (p.Gly824Asp)
|
|
|
NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly)
|
|
|
NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp)
|
|
|
NM_002637.4(PHKA1):c.2526+5T>C
|
rs1556259531
|
|
NM_002637.4(PHKA1):c.2526+6A>G
|
|
|
NM_002637.4(PHKA1):c.2546C>T (p.Ser849Phe)
|
|
|
NM_002637.4(PHKA1):c.2550C>G (p.His850Gln)
|
|
|
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
|
|
|
NM_002637.4(PHKA1):c.2588G>A (p.Arg863Gln)
|
|
|
NM_002637.4(PHKA1):c.2599A>G (p.Ile867Val)
|
|
|
NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe)
|
|
|
NM_002637.4(PHKA1):c.2608C>T (p.Pro870Ser)
|
|
|
NM_002637.4(PHKA1):c.2615C>T (p.Pro872Leu)
|
|
|
NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys)
|
|
|
NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr)
|
|
|
NM_002637.4(PHKA1):c.2657G>C (p.Gly886Ala)
|
|
|
NM_002637.4(PHKA1):c.2660A>T (p.Asp887Val)
|
|
|
NM_002637.4(PHKA1):c.2662A>G (p.Met888Val)
|
|
|
NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val)
|
|
|
NM_002637.4(PHKA1):c.2708T>A (p.Met903Lys)
|
|
|
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile)
|
rs1603254167
|
|
NM_002637.4(PHKA1):c.2750G>A (p.Arg917Gln)
|
|
|
NM_002637.4(PHKA1):c.2750G>T (p.Arg917Leu)
|
|
|
NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln)
|
|
|
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr)
|
rs2054264983
|
|
NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr)
|
|
|
NM_002637.4(PHKA1):c.2839A>G (p.Met947Val)
|
|
|
NM_002637.4(PHKA1):c.285+5G>A
|
|
|
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser)
|
|
|
NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile)
|
|
|
NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys)
|
|
|
NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile)
|
|
|
NM_002637.4(PHKA1):c.2957T>C (p.Ile986Thr)
|
|
|
NM_002637.4(PHKA1):c.2962G>A (p.Glu988Lys)
|
|
|
NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe)
|
|
|
NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp)
|
|
|
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln)
|
rs1603278200
|
|
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=)
|
rs2147674398
|
|
NM_002637.4(PHKA1):c.3044G>A (p.Arg1015His)
|
|
|
NM_002637.4(PHKA1):c.3072+3G>A
|
|
|
NM_002637.4(PHKA1):c.3076C>T (p.Pro1026Ser)
|
|
|
NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile)
|
|
|
NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn)
|
|
|
NM_002637.4(PHKA1):c.3103G>A (p.Gly1035Arg)
|
|
|
NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)
|
|
|
NM_002637.4(PHKA1):c.3119C>T (p.Ala1040Val)
|
|
|
NM_002637.4(PHKA1):c.3121T>C (p.Tyr1041His)
|
|
|
NM_002637.4(PHKA1):c.3143A>G (p.Asp1048Gly)
|
|
|
NM_002637.4(PHKA1):c.315T>G (p.Ser105Arg)
|
rs2147825866
|
|
NM_002637.4(PHKA1):c.3223G>C (p.Val1075Leu)
|
|
|
NM_002637.4(PHKA1):c.3271G>T (p.Val1091Phe)
|
|
|
NM_002637.4(PHKA1):c.3304C>A (p.Pro1102Thr)
|
|
|
NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu)
|
|
|
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr)
|
rs782034813
|
|
NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly)
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NM_002637.4(PHKA1):c.3485T>A (p.Phe1162Tyr)
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NM_002637.4(PHKA1):c.3497A>T (p.Gln1166Leu)
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NM_002637.4(PHKA1):c.3520A>G (p.Thr1174Ala)
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NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)
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rs2052331052
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NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr)
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NM_002637.4(PHKA1):c.3568G>C (p.Asp1190His)
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rs2147636584
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NM_002637.4(PHKA1):c.3605A>T (p.Tyr1202Phe)
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NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)
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rs2052328981
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NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)
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NM_002637.4(PHKA1):c.466A>G (p.Ile156Val)
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NM_002637.4(PHKA1):c.484G>A (p.Val162Ile)
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NM_002637.4(PHKA1):c.493A>G (p.Ile165Val)
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rs2053946596
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NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly)
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rs2053946293
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NM_002637.4(PHKA1):c.537+5G>A
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NM_002637.4(PHKA1):c.576A>C (p.Gln192His)
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NM_002637.4(PHKA1):c.647A>G (p.Asp216Gly)
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NM_002637.4(PHKA1):c.664G>T (p.Gly222Cys)
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NM_002637.4(PHKA1):c.665G>T (p.Gly222Val)
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NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
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NM_002637.4(PHKA1):c.711C>G (p.His237Gln)
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NM_002637.4(PHKA1):c.719C>G (p.Ser240Cys)
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NM_002637.4(PHKA1):c.723C>G (p.Ile241Met)
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NM_002637.4(PHKA1):c.743G>A (p.Arg248His)
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NM_002637.4(PHKA1):c.784G>A (p.Val262Met)
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NM_002637.4(PHKA1):c.982T>C (p.Trp328Arg)
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