NM_002637.4(PHKA1):c.429C>T (p.Leu143=)
|
rs138066694
|
0.02710
|
NM_002637.4(PHKA1):c.-229G>A
|
rs782474797
|
0.00807
|
NM_002637.4(PHKA1):c.492C>T (p.Phe164=)
|
rs149354112
|
0.00383
|
NM_002637.4(PHKA1):c.-261C>A
|
rs782574152
|
0.00324
|
NM_002637.4(PHKA1):c.*231A>T
|
rs374264624
|
0.00308
|
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His)
|
rs139803629
|
0.00280
|
NM_002637.4(PHKA1):c.*804C>T
|
rs144538626
|
0.00263
|
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=)
|
rs61732499
|
0.00216
|
NM_002637.4(PHKA1):c.*500C>A
|
rs148465718
|
0.00179
|
NM_002637.4(PHKA1):c.864+11A>G
|
rs181490917
|
0.00116
|
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.3435C>T (p.Ile1145=)
|
rs148981522
|
0.00094
|
NM_002637.4(PHKA1):c.238-4G>A
|
rs782186877
|
0.00089
|
NM_002637.4(PHKA1):c.*1275A>G
|
rs782306248
|
0.00069
|
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val)
|
rs201573707
|
0.00063
|
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn)
|
rs141251024
|
0.00059
|
NM_002637.4(PHKA1):c.2918-4A>G
|
rs184136158
|
0.00056
|
NM_002637.4(PHKA1):c.2229+15G>T
|
rs552106907
|
0.00055
|
NM_002637.4(PHKA1):c.1740A>G (p.Ser580=)
|
rs143064948
|
0.00047
|
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.2112C>T (p.Thr704=)
|
rs782437467
|
0.00014
|
NM_002637.4(PHKA1):c.1309G>A (p.Asp437Asn)
|
rs782063260
|
0.00013
|
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)
|
rs143802511
|
0.00013
|
NM_002637.4(PHKA1):c.718-12C>A
|
rs782227106
|
0.00013
|
NM_002637.4(PHKA1):c.2370-19C>T
|
rs376822361
|
0.00012
|
NM_002637.4(PHKA1):c.2405G>A (p.Arg802Gln)
|
rs782159405
|
0.00011
|
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.778C>T (p.Leu260Phe)
|
rs781803498
|
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.1998C>T (p.His666=)
|
rs368673487
|
0.00008
|
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=)
|
rs368071005
|
0.00008
|
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys)
|
rs144670958
|
0.00008
|
NM_002637.4(PHKA1):c.538-20T>C
|
rs782786358
|
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.3034-15C>T
|
rs1191413387
|
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.1794-7T>A
|
rs376754554
|
0.00004
|
NM_002637.4(PHKA1):c.2230-20C>T
|
rs374639781
|
0.00004
|
NM_002637.4(PHKA1):c.750A>G (p.Ser250=)
|
rs201801654
|
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.2403A>G (p.Glu801=)
|
rs782389254
|
0.00003
|
NM_002637.4(PHKA1):c.2480G>A (p.Arg827Gln)
|
rs370717042
|
0.00003
|
NM_002637.4(PHKA1):c.2578C>T (p.Pro860Ser)
|
rs781963831
|
0.00003
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
|
rs1179242925
|
0.00003
|
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter)
|
rs137852546
|
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.3669A>G (p.Gln1223=)
|
rs782257959
|
0.00003
|
NM_002637.4(PHKA1):c.430T>G (p.Phe144Val)
|
rs782285281
|
0.00003
|
NM_002637.4(PHKA1):c.1311T>C (p.Asp437=)
|
rs782496296
|
0.00002
|
NM_002637.4(PHKA1):c.1383C>T (p.Tyr461=)
|
rs1057522310
|
0.00002
|
NM_002637.4(PHKA1):c.1428T>A (p.Ala476=)
|
rs1259412573
|
0.00002
|
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.2137+12C>T
|
rs782222298
|
0.00002
|
NM_002637.4(PHKA1):c.2607-5C>T
|
rs375770238
|
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.3288C>T (p.Thr1096=)
|
rs782626114
|
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.478G>A (p.Asp160Asn)
|
rs201601894
|
0.00002
|
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
|
rs782491605
|
0.00001
|
NM_002637.4(PHKA1):c.1137+12A>G
|
rs1556299862
|
0.00001
|
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter)
|
rs1556299510
|
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.1759C>T (p.Arg587Ter)
|
rs1157788242
|
0.00001
|
NM_002637.4(PHKA1):c.2088C>T (p.Thr696=)
|
rs1556276493
|
0.00001
|
NM_002637.4(PHKA1):c.2190C>T (p.Phe730=)
|
rs1228510553
|
0.00001
|
NM_002637.4(PHKA1):c.2370-14C>T
|
rs782784720
|
0.00001
|
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp)
|
rs782789642
|
0.00001
|
NM_002637.4(PHKA1):c.2527-1G>T
|
rs1556257317
|
0.00001
|
NM_002637.4(PHKA1):c.2625G>A (p.Ala875=)
|
rs781930090
|
0.00001
|
NM_002637.4(PHKA1):c.2763T>A (p.Gly921=)
|
rs541124093
|
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.3144T>C (p.Asp1048=)
|
rs1556228374
|
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
|
NM_002637.4(PHKA1):c.855C>T (p.Thr285=)
|
rs1004871695
|
0.00001
|
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
|
|
|
NC_000023.10:g.(?_71854985)_(71933728_?)dup
|
|
|
NC_000023.10:g.(?_71875950)_(71925114_?)dup
|
|
|
NC_000023.11:g.(?_72644342)_(72676170_?)del
|
|
|
NM_002637.4(PHKA1):c.*1375A>G
|
rs142925152
|
|
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.1041+19A>T
|
|
|
NM_002637.4(PHKA1):c.1041+20G>A
|
|
|
NM_002637.4(PHKA1):c.1042-20T>G
|
|
|
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.1092T>C (p.Asn364=)
|
|
|
NM_002637.4(PHKA1):c.1100C>T (p.Pro367Leu)
|
|
|
NM_002637.4(PHKA1):c.1137+13G>A
|
|
|
NM_002637.4(PHKA1):c.1137+17C>T
|
|
|
NM_002637.4(PHKA1):c.1138-20C>T
|
|
|
NM_002637.4(PHKA1):c.1176A>C (p.Arg392=)
|
|
|
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.1245+20C>A
|
|
|
NM_002637.4(PHKA1):c.126T>C (p.Ala42=)
|
|
|
NM_002637.4(PHKA1):c.1275C>T (p.Pro425=)
|
|
|
NM_002637.4(PHKA1):c.1276C>T (p.Leu426=)
|
|
|
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys)
|
rs2147757116
|
|
NM_002637.4(PHKA1):c.1285A>C (p.Arg429=)
|
|
|
NM_002637.4(PHKA1):c.1296T>A (p.Thr432=)
|
|
|
NM_002637.4(PHKA1):c.1308C>T (p.Pro436=)
|
|
|
NM_002637.4(PHKA1):c.1316T>C (p.Val439Ala)
|
|
|
NM_002637.4(PHKA1):c.1325-5T>C
|
|
|
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.1401G>A (p.Glu467=)
|
rs782491320
|
|
NM_002637.4(PHKA1):c.1416A>C (p.Arg472Ser)
|
|
|
NM_002637.4(PHKA1):c.1431T>A (p.Arg477=)
|
|
|
NM_002637.4(PHKA1):c.1459+19C>T
|
|
|
NM_002637.4(PHKA1):c.1459+6_1459+8del
|
rs782679415
|
|
NM_002637.4(PHKA1):c.1460-12A>G
|
|
|
NM_002637.4(PHKA1):c.1460-15T>A
|
|
|
NM_002637.4(PHKA1):c.1460-15T>C
|
|
|
NM_002637.4(PHKA1):c.1460-17T>C
|
|
|
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)
|
rs2054403951
|
|
NM_002637.4(PHKA1):c.1531dup (p.Tyr511fs)
|
|
|
NM_002637.4(PHKA1):c.1536C>T (p.Asp512=)
|
|
|
NM_002637.4(PHKA1):c.1549A>G (p.Ile517Val)
|
|
|
NM_002637.4(PHKA1):c.1569+16T>A
|
|
|
NM_002637.4(PHKA1):c.1569+19A>G
|
|
|
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.169T>C (p.Leu57=)
|
|
|
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
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NM_002637.4(PHKA1):c.1749G>C (p.Leu583=)
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|
NM_002637.4(PHKA1):c.174C>T (p.Gly58=)
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NM_002637.4(PHKA1):c.1754C>T (p.Ala585Val)
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NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln)
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NM_002637.4(PHKA1):c.1776G>T (p.Gly592=)
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NM_002637.4(PHKA1):c.1793+14A>G
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NM_002637.4(PHKA1):c.1793+18A>G
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NM_002637.4(PHKA1):c.1819T>C (p.Phe607Leu)
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NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys)
|
rs2054403362
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NM_002637.4(PHKA1):c.184C>G (p.Arg62Gly)
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NM_002637.4(PHKA1):c.1945G>C (p.Asp649His)
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NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala)
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NM_002637.4(PHKA1):c.1961-14C>G
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NM_002637.4(PHKA1):c.1978G>A (p.Val660Ile)
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NM_002637.4(PHKA1):c.198C>T (p.Asp66=)
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NM_002637.4(PHKA1):c.199C>G (p.Arg67Gly)
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NM_002637.4(PHKA1):c.2003T>C (p.Leu668Ser)
|
rs2052967940
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NM_002637.4(PHKA1):c.2006C>A (p.Ala669Glu)
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NM_002637.4(PHKA1):c.2007G>A (p.Ala669=)
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NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr)
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NM_002637.4(PHKA1):c.2019C>G (p.Pro673=)
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NM_002637.4(PHKA1):c.2033C>A (p.Ala678Asp)
|
rs1247275284
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NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr)
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NM_002637.4(PHKA1):c.2062C>T (p.Arg688Trp)
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NM_002637.4(PHKA1):c.207G>C (p.Glu69Asp)
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NM_002637.4(PHKA1):c.2092G>A (p.Asp698Asn)
|
rs1064796509
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NM_002637.4(PHKA1):c.2093A>T (p.Asp698Val)
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NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del)
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NM_002637.4(PHKA1):c.2102C>T (p.Ser701Phe)
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NM_002637.4(PHKA1):c.2137+13G>A
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NM_002637.4(PHKA1):c.2138-16T>C
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NM_002637.4(PHKA1):c.2138-5T>C
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NM_002637.4(PHKA1):c.2146A>G (p.Met716Val)
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NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)
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NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln)
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NM_002637.4(PHKA1):c.219G>T (p.Lys73Asn)
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NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn)
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NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr)
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NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln)
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NM_002637.4(PHKA1):c.2219A>G (p.Gln740Arg)
|
rs2147705472
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NM_002637.4(PHKA1):c.2229+15G>A
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NM_002637.4(PHKA1):c.2230-18T>C
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NM_002637.4(PHKA1):c.2243G>A (p.Arg748His)
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rs2147704831
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NM_002637.4(PHKA1):c.2280G>C (p.Glu760Asp)
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NM_002637.4(PHKA1):c.229T>C (p.Leu77=)
|
rs2054402218
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NM_002637.4(PHKA1):c.2365A>G (p.Met789Val)
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NM_002637.4(PHKA1):c.2369+12A>G
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NM_002637.4(PHKA1):c.2369+17A>G
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NM_002637.4(PHKA1):c.237+16A>G
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NM_002637.4(PHKA1):c.2370-13G>A
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NM_002637.4(PHKA1):c.2370A>G (p.Lys790=)
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NM_002637.4(PHKA1):c.2379C>A (p.Asp793Glu)
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NM_002637.4(PHKA1):c.238-14A>C
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NM_002637.4(PHKA1):c.238-2A>T
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NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser)
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NM_002637.4(PHKA1):c.2384A>T (p.Asn795Ile)
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NM_002637.4(PHKA1):c.2391A>G (p.Glu797=)
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NM_002637.4(PHKA1):c.2393T>C (p.Leu798Ser)
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NM_002637.4(PHKA1):c.2416G>C (p.Val806Leu)
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NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys)
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NM_002637.4(PHKA1):c.2439G>C (p.Leu813=)
|
rs2052803141
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NM_002637.4(PHKA1):c.2460dup (p.Arg821fs)
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NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys)
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NM_002637.4(PHKA1):c.2471G>A (p.Gly824Asp)
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NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly)
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NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp)
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NM_002637.4(PHKA1):c.2526+5T>C
|
rs1556259531
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NM_002637.4(PHKA1):c.2526+6A>G
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NM_002637.4(PHKA1):c.2527-12A>G
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NM_002637.4(PHKA1):c.2546C>T (p.Ser849Phe)
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NM_002637.4(PHKA1):c.2550C>G (p.His850Gln)
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NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
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NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)
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NM_002637.4(PHKA1):c.2588G>A (p.Arg863Gln)
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NM_002637.4(PHKA1):c.2599A>G (p.Ile867Val)
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NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe)
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NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)
|
rs2052776972
|
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NM_002637.4(PHKA1):c.2606+7A>G
|
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NM_002637.4(PHKA1):c.2607-15T>G
|
rs2147681346
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NM_002637.4(PHKA1):c.2607-7T>C
|
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NM_002637.4(PHKA1):c.2608C>T (p.Pro870Ser)
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NM_002637.4(PHKA1):c.2613G>A (p.Leu871=)
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NM_002637.4(PHKA1):c.2615C>T (p.Pro872Leu)
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NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys)
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NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr)
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NM_002637.4(PHKA1):c.2657G>C (p.Gly886Ala)
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NM_002637.4(PHKA1):c.2660A>T (p.Asp887Val)
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NM_002637.4(PHKA1):c.2662A>G (p.Met888Val)
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NM_002637.4(PHKA1):c.2667C>T (p.Ser889=)
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NM_002637.4(PHKA1):c.2683C>T (p.Gln895Ter)
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NM_002637.4(PHKA1):c.2685+13G>A
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NM_002637.4(PHKA1):c.2685+17A>G
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NM_002637.4(PHKA1):c.2685+8_2685+10del
|
rs782176924
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NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val)
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NM_002637.4(PHKA1):c.2697A>G (p.Val899=)
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NM_002637.4(PHKA1):c.2708T>A (p.Met903Lys)
|
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NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile)
|
rs1603254167
|
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NM_002637.4(PHKA1):c.2739T>G (p.Ala913=)
|
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NM_002637.4(PHKA1):c.2750G>A (p.Arg917Gln)
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NM_002637.4(PHKA1):c.2750G>T (p.Arg917Leu)
|
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NM_002637.4(PHKA1):c.2751A>T (p.Arg917=)
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NM_002637.4(PHKA1):c.2755C>T (p.Arg919Ter)
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NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln)
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NM_002637.4(PHKA1):c.275T>C (p.Met92Thr)
|
rs2054264983
|
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NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr)
|
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NM_002637.4(PHKA1):c.280A>C (p.Arg94=)
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NM_002637.4(PHKA1):c.2815+15A>G
|
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NM_002637.4(PHKA1):c.2839A>G (p.Met947Val)
|
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NM_002637.4(PHKA1):c.285+5G>A
|
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NM_002637.4(PHKA1):c.285+7T>C
|
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NM_002637.4(PHKA1):c.2856G>A (p.Ser952=)
|
rs782602098
|
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NM_002637.4(PHKA1):c.286-9T>C
|
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NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser)
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NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile)
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NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys)
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NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile)
|
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NM_002637.4(PHKA1):c.2957T>C (p.Ile986Thr)
|
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NM_002637.4(PHKA1):c.2962G>A (p.Glu988Lys)
|
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NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe)
|
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NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp)
|
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NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln)
|
rs1603278200
|
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NM_002637.4(PHKA1):c.3006C>A (p.Ile1002=)
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NM_002637.4(PHKA1):c.3024G>A (p.Glu1008=)
|
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|
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=)
|
rs2147674398
|
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NM_002637.4(PHKA1):c.303C>T (p.Ser101=)
|
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|
NM_002637.4(PHKA1):c.3042T>C (p.Phe1014=)
|
rs2147674384
|
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NM_002637.4(PHKA1):c.3044G>A (p.Arg1015His)
|
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NM_002637.4(PHKA1):c.3072+3G>A
|
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NM_002637.4(PHKA1):c.3076C>T (p.Pro1026Ser)
|
|
|
NM_002637.4(PHKA1):c.3081A>T (p.Gly1027=)
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NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile)
|
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NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn)
|
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|
NM_002637.4(PHKA1):c.3103G>A (p.Gly1035Arg)
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NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)
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|
NM_002637.4(PHKA1):c.3119C>T (p.Ala1040Val)
|
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|
NM_002637.4(PHKA1):c.3120A>G (p.Ala1040=)
|
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|
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.3243+7A>G
|
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|
NM_002637.4(PHKA1):c.3244-12del
|
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NM_002637.4(PHKA1):c.3244-12dup
|
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NM_002637.4(PHKA1):c.3244-19T>C
|
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NM_002637.4(PHKA1):c.3244-29_3244-15del
|
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|
NM_002637.4(PHKA1):c.3255T>G (p.Leu1085=)
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NM_002637.4(PHKA1):c.3271G>T (p.Val1091Phe)
|
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NM_002637.4(PHKA1):c.3297+11C>G
|
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NM_002637.4(PHKA1):c.3298-7A>G
|
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|
NM_002637.4(PHKA1):c.3304C>A (p.Pro1102Thr)
|
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NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu)
|
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|
NM_002637.4(PHKA1):c.3366G>A (p.Glu1122=)
|
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|
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr)
|
rs782034813
|
|
NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly)
|
|
|
NM_002637.4(PHKA1):c.3444C>A (p.Ile1148=)
|
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|
NM_002637.4(PHKA1):c.3474C>T (p.Ala1158=)
|
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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.3498+1G>C
|
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|
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=)
|
rs782682520
|
|
NM_002637.4(PHKA1):c.3510C>T (p.Gly1170=)
|
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|
NM_002637.4(PHKA1):c.3520A>G (p.Thr1174Ala)
|
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|
NM_002637.4(PHKA1):c.3526T>C (p.Leu1176=)
|
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|
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)
|
rs2052331052
|
|
NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr)
|
|
|
NM_002637.4(PHKA1):c.3568G>C (p.Asp1190His)
|
rs2147636584
|
|
NM_002637.4(PHKA1):c.3605A>T (p.Tyr1202Phe)
|
|
|
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)
|
rs2052328981
|
|
NM_002637.4(PHKA1):c.3621C>T (p.Ala1207=)
|
|
|
NM_002637.4(PHKA1):c.3630C>T (p.Tyr1210=)
|
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|
NM_002637.4(PHKA1):c.3657C>T (p.Ile1219=)
|
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NM_002637.4(PHKA1):c.381T>C (p.Asp127=)
|
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|
NM_002637.4(PHKA1):c.384T>C (p.Asp128=)
|
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|
NM_002637.4(PHKA1):c.387A>G (p.Gln129=)
|
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|
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
|
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|
NM_002637.4(PHKA1):c.426G>A (p.Leu142=)
|
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|
NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)
|
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|
NM_002637.4(PHKA1):c.454+12G>A
|
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|
NM_002637.4(PHKA1):c.455-5C>T
|
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|
NM_002637.4(PHKA1):c.459C>G (p.Leu153=)
|
|
|
NM_002637.4(PHKA1):c.466A>G (p.Ile156Val)
|
|
|
NM_002637.4(PHKA1):c.484G>A (p.Val162Ile)
|
|
|
NM_002637.4(PHKA1):c.493A>G (p.Ile165Val)
|
rs2053946596
|
|
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly)
|
rs2053946293
|
|
NM_002637.4(PHKA1):c.534T>G (p.Thr178=)
|
|
|
NM_002637.4(PHKA1):c.537+5G>A
|
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|
NM_002637.4(PHKA1):c.538-19A>G
|
|
|
NM_002637.4(PHKA1):c.543C>T (p.Phe181=)
|
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|
NM_002637.4(PHKA1):c.576A>C (p.Gln192His)
|
|
|
NM_002637.4(PHKA1):c.618+16T>G
|
|
|
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter)
|
rs2147781328
|
|
NM_002637.4(PHKA1):c.647A>G (p.Asp216Gly)
|
|
|
NM_002637.4(PHKA1):c.663A>G (p.Lys221=)
|
|
|
NM_002637.4(PHKA1):c.664G>T (p.Gly222Cys)
|
|
|
NM_002637.4(PHKA1):c.665G>T (p.Gly222Val)
|
|
|
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg)
|
rs137852548
|
|
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
|
rs2053626907
|
|
NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
|
|
|
NM_002637.4(PHKA1):c.691C>T (p.Leu231=)
|
|
|
NM_002637.4(PHKA1):c.695del (p.Ala232fs)
|
rs1603266754
|
|
NM_002637.4(PHKA1):c.6G>A (p.Arg2=)
|
|
|
NM_002637.4(PHKA1):c.711C>G (p.His237Gln)
|
|
|
NM_002637.4(PHKA1):c.718-9T>C
|
|
|
NM_002637.4(PHKA1):c.719C>G (p.Ser240Cys)
|
|
|
NM_002637.4(PHKA1):c.723C>G (p.Ile241Met)
|
|
|
NM_002637.4(PHKA1):c.732A>C (p.Ser244=)
|
|
|
NM_002637.4(PHKA1):c.743G>A (p.Arg248His)
|
|
|
NM_002637.4(PHKA1):c.777A>G (p.Leu259=)
|
rs1015048037
|
|
NM_002637.4(PHKA1):c.78+15G>A
|
|
|
NM_002637.4(PHKA1):c.78+16TC[2]
|
rs781902933
|
|
NM_002637.4(PHKA1):c.784G>A (p.Val262Met)
|
|
|
NM_002637.4(PHKA1):c.79-5dup
|
|
|
NM_002637.4(PHKA1):c.812_813dup (p.Asp272fs)
|
rs2147779873
|
|
NM_002637.4(PHKA1):c.864+12T>A
|
|
|
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)
|
rs1256371424
|
|
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val)
|
rs137852547
|
|
NM_002637.4(PHKA1):c.900A>G (p.Gly300=)
|
|
|
NM_002637.4(PHKA1):c.919-17T>C
|
|
|
NM_002637.4(PHKA1):c.919-2A>G
|
rs2147766482
|
|
NM_002637.4(PHKA1):c.975G>A (p.Glu325=)
|
|
|
NM_002637.4(PHKA1):c.982T>C (p.Trp328Arg)
|
|
|