ClinVar Miner

List of variants in gene PFKM reported as likely benign for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 524
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HGVS dbSNP gnomAD frequency
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000289.6(PFKM):c.237+73G>T rs78042191 0.01997
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000289.6(PFKM):c.495T>A (p.Ile165=) rs148858610 0.00046
NM_000289.6(PFKM):c.1611C>T (p.Asp537=) rs764961084 0.00031
NM_000289.6(PFKM):c.1653+8C>T rs369425921 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000289.6(PFKM):c.1063-5C>T rs758178966 0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842 0.00011
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_000289.6(PFKM):c.597C>T (p.His199=) rs554169766 0.00009
NM_000289.6(PFKM):c.747+10C>T rs1372921221 0.00009
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=) rs146318448 0.00008
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_000289.6(PFKM):c.594-18T>A rs372899080 0.00007
NM_000289.6(PFKM):c.1127+13C>T rs376042142 0.00005
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) rs1203272613 0.00005
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) rs200847712 0.00005
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=) rs745739278 0.00005
NM_000289.6(PFKM):c.2253C>A (p.Ile751=) rs370779782 0.00005
NM_000289.6(PFKM):c.327G>A (p.Gly109=) rs751902983 0.00005
NM_000289.6(PFKM):c.1044C>G (p.Leu348=) rs749882480 0.00004
NM_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NM_000289.6(PFKM):c.1063-19C>T rs772630501 0.00004
NM_000289.6(PFKM):c.1320C>T (p.Phe440=) rs540444775 0.00004
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669 0.00004
NM_000289.6(PFKM):c.1956C>T (p.Phe652=) rs771733776 0.00004
NM_000289.6(PFKM):c.468G>C (p.Leu156=) rs772301967 0.00004
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752 0.00004
NM_000289.6(PFKM):c.1127+10T>C rs759084382 0.00003
NM_000289.6(PFKM):c.1158G>A (p.Lys386=) rs1216904332 0.00003
NM_000289.6(PFKM):c.1311T>C (p.His437=) rs369182995 0.00003
NM_000289.6(PFKM):c.1413-20C>T rs771066629 0.00003
NM_000289.6(PFKM):c.2092+17C>T rs773403779 0.00003
NM_000289.6(PFKM):c.2092+9G>T rs371778846 0.00003
NM_000289.6(PFKM):c.2233C>T (p.Leu745=) rs771535478 0.00003
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) rs374418157 0.00003
NM_000289.6(PFKM):c.1128-4A>G rs570665595 0.00002
NM_000289.6(PFKM):c.1200G>A (p.Ser400=) rs746775189 0.00002
NM_000289.6(PFKM):c.1308C>G (p.Val436=) rs779395140 0.00002
NM_000289.6(PFKM):c.1464T>C (p.Phe488=) rs374814413 0.00002
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_000289.6(PFKM):c.2097G>C (p.Arg699=) rs776783895 0.00002
NM_000289.6(PFKM):c.2176C>T (p.Leu726=) rs761487239 0.00002
NM_000289.6(PFKM):c.2337C>T (p.Ala779=) rs748647298 0.00002
NM_000289.6(PFKM):c.471C>T (p.Asn157=) rs1223915629 0.00002
NM_000289.6(PFKM):c.834C>T (p.Asp278=) rs776432077 0.00002
NM_000289.6(PFKM):c.912G>A (p.Thr304=) rs764516934 0.00002
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075 0.00001
NM_000289.6(PFKM):c.1014C>G (p.Leu338=) rs745952414 0.00001
NM_000289.6(PFKM):c.103A>C (p.Arg35=) rs1057522048 0.00001
NM_000289.6(PFKM):c.1041C>T (p.Pro347=) rs1350163599 0.00001
NM_000289.6(PFKM):c.1104C>T (p.Asp368=) rs151045985 0.00001
NM_000289.6(PFKM):c.1149G>A (p.Glu383=) rs765367927 0.00001
NM_000289.6(PFKM):c.1192-16G>A rs756542348 0.00001
NM_000289.6(PFKM):c.1192-4A>G rs1320880960 0.00001
NM_000289.6(PFKM):c.1192-7T>C rs1445315219 0.00001
NM_000289.6(PFKM):c.123T>C (p.Gly41=) rs756442663 0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454 0.00001
NM_000289.6(PFKM):c.1260C>T (p.Arg420=) rs756454146 0.00001
NM_000289.6(PFKM):c.1275T>C (p.Ile425=) rs1592789738 0.00001
NM_000289.6(PFKM):c.129C>T (p.Phe43=) rs1181855702 0.00001
NM_000289.6(PFKM):c.132C>T (p.Thr44=) rs780240624 0.00001
NM_000289.6(PFKM):c.1374C>G (p.Gly458=) rs765683112 0.00001
NM_000289.6(PFKM):c.138C>T (p.Ala46=) rs1413157674 0.00001
NM_000289.6(PFKM):c.1455A>C (p.Ile485=) rs1404730324 0.00001
NM_000289.6(PFKM):c.159+10G>A rs772752063 0.00001
NM_000289.6(PFKM):c.1599C>T (p.Val533=) rs1308260209 0.00001
NM_000289.6(PFKM):c.160-11G>C rs770427697 0.00001
NM_000289.6(PFKM):c.1617C>T (p.Ser539=) rs371605516 0.00001
NM_000289.6(PFKM):c.1653+10T>C rs1355868874 0.00001
NM_000289.6(PFKM):c.1761A>G (p.Ala587=) rs1950696961 0.00001
NM_000289.6(PFKM):c.1818+10C>T rs774040508 0.00001
NM_000289.6(PFKM):c.1857T>C (p.Thr619=) rs762229855 0.00001
NM_000289.6(PFKM):c.1908C>T (p.Thr636=) rs748755500 0.00001
NM_000289.6(PFKM):c.1980T>A (p.Gly660=) rs1180149962 0.00001
NM_000289.6(PFKM):c.1993-6C>T rs1258118168 0.00001
NM_000289.6(PFKM):c.2034G>A (p.Lys678=) rs1426948180 0.00001
NM_000289.6(PFKM):c.2093-9T>G rs1425536614 0.00001
NM_000289.6(PFKM):c.216C>T (p.Ser72=) rs760812841 0.00001
NM_000289.6(PFKM):c.2199-4G>A rs1195176028 0.00001
NM_000289.6(PFKM):c.222G>A (p.Ser74=) rs754074132 0.00001
NM_000289.6(PFKM):c.2292T>C (p.His764=) rs765145687 0.00001
NM_000289.6(PFKM):c.2325C>T (p.Ser775=) rs780497709 0.00001
NM_000289.6(PFKM):c.237+10A>G rs753085406 0.00001
NM_000289.6(PFKM):c.276T>C (p.Phe92=) rs1479575063 0.00001
NM_000289.6(PFKM):c.318G>A (p.Val106=) rs775680284 0.00001
NM_000289.6(PFKM):c.333C>T (p.Thr111=) rs767919774 0.00001
NM_000289.6(PFKM):c.36G>A (p.Leu12=) rs765868040 0.00001
NM_000289.6(PFKM):c.375T>C (p.Ala125=) rs748925843 0.00001
NM_000289.6(PFKM):c.384C>T (p.Phe128=) rs771979702 0.00001
NM_000289.6(PFKM):c.393G>A (p.Glu131=) rs1949678398 0.00001
NM_000289.6(PFKM):c.428-5G>A rs530415874 0.00001
NM_000289.6(PFKM):c.477G>T (p.Val159=) rs1409128392 0.00001
NM_000289.6(PFKM):c.483G>A (p.Leu161=) rs199856938 0.00001
NM_000289.6(PFKM):c.546G>A (p.Leu182=) rs779095033 0.00001
NM_000289.6(PFKM):c.570T>C (p.Asp190=) rs761133325 0.00001
NM_000289.6(PFKM):c.638+20C>T rs901548166 0.00001
NM_000289.6(PFKM):c.66C>G (p.Thr22=) rs995717911 0.00001
NM_000289.6(PFKM):c.675C>T (p.Ala225=) rs1368560997 0.00001
NM_000289.6(PFKM):c.711C>T (p.Asp237=) rs768094970 0.00001
NM_000289.6(PFKM):c.825C>T (p.Thr275=) rs1173987256 0.00001
NM_000289.6(PFKM):c.844-4T>C rs1366950106 0.00001
NM_000289.6(PFKM):c.844-8C>T rs1422456826 0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=) rs1313998695 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000289.6(PFKM):c.927C>T (p.Asp309=) rs752179477 0.00001
NM_000289.6(PFKM):c.987A>T (p.Pro329=) rs932393961 0.00001
NM_000289.6(PFKM):c.993C>G (p.Thr331=) rs754716303 0.00001
NC_000012.12:g.48107385C>T
NM_000289.6(PFKM):c.1002T>C (p.Cys334=)
NM_000289.6(PFKM):c.1017T>C (p.Ser339=) rs2135957213
NM_000289.6(PFKM):c.1020T>C (p.Gly340=) rs2135957243
NM_000289.6(PFKM):c.1023C>T (p.Asn341=) rs2135957291
NM_000289.6(PFKM):c.1029T>A (p.Ala343=) rs2135957401
NM_000289.6(PFKM):c.1029T>C (p.Ala343=)
NM_000289.6(PFKM):c.1032G>A (p.Val344=) rs1329869497
NM_000289.6(PFKM):c.1035C>T (p.Arg345=)
NM_000289.6(PFKM):c.1036C>T (p.Leu346=)
NM_000289.6(PFKM):c.1062+14C>T
NM_000289.6(PFKM):c.1062+20C>T
NM_000289.6(PFKM):c.1062+8C>T
NM_000289.6(PFKM):c.1062+9T>C
NM_000289.6(PFKM):c.1062G>T (p.Val354=)
NM_000289.6(PFKM):c.1063-10C>A
NM_000289.6(PFKM):c.1063-10C>T
NM_000289.6(PFKM):c.1063-18G>C
NM_000289.6(PFKM):c.1063-20T>A
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1063-6C>G rs371033104
NM_000289.6(PFKM):c.1063-6C>T rs371033104
NM_000289.6(PFKM):c.1063-7C>A
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1063-8C>T
NM_000289.6(PFKM):c.1077C>G (p.Thr359=) rs2135975682
NM_000289.6(PFKM):c.1077C>T (p.Thr359=)
NM_000289.6(PFKM):c.1080G>A (p.Lys360=)
NM_000289.6(PFKM):c.108T>C (p.Ala36=) rs1949346132
NM_000289.6(PFKM):c.1113G>A (p.Leu371=) rs2135976209
NM_000289.6(PFKM):c.1122A>G (p.Arg374=)
NM_000289.6(PFKM):c.1127+10T>A
NM_000289.6(PFKM):c.1127+14G>A
NM_000289.6(PFKM):c.1127+19G>A
NM_000289.6(PFKM):c.1127+19G>T
NM_000289.6(PFKM):c.1127+7A>G rs2135976553
NM_000289.6(PFKM):c.1127+8G>A rs2135976581
NM_000289.6(PFKM):c.1127+9A>C rs2135976634
NM_000289.6(PFKM):c.1128-10C>A rs2135982206
NM_000289.6(PFKM):c.1128-10C>T rs2135982206
NM_000289.6(PFKM):c.1128-15T>C
NM_000289.6(PFKM):c.1128-16T>A
NM_000289.6(PFKM):c.1128-17A>G
NM_000289.6(PFKM):c.1128-18T>C
NM_000289.6(PFKM):c.1128-19_1128-16del
NM_000289.6(PFKM):c.114T>C (p.Val38=)
NM_000289.6(PFKM):c.1152G>A (p.Val384=)
NM_000289.6(PFKM):c.1161T>C (p.Leu387=) rs1950427025
NM_000289.6(PFKM):c.1164A>G (p.Leu388=) rs2135982704
NM_000289.6(PFKM):c.1182G>A (p.Pro394=) rs372189049
NM_000289.6(PFKM):c.1191+11G>T
NM_000289.6(PFKM):c.1191+13T>G
NM_000289.6(PFKM):c.1192-10T>C
NM_000289.6(PFKM):c.1192-11C>T
NM_000289.6(PFKM):c.1192-12C>G
NM_000289.6(PFKM):c.1192-19C>T
NM_000289.6(PFKM):c.1192-3_1192-2del rs780969059
NM_000289.6(PFKM):c.1192-5T>C rs778432092
NM_000289.6(PFKM):c.1192-6G>C
NM_000289.6(PFKM):c.1192-9C>T
NM_000289.6(PFKM):c.1209G>A (p.Val403=)
NM_000289.6(PFKM):c.1221C>T (p.Asn407=) rs764231757
NM_000289.6(PFKM):c.1224G>C (p.Val408=) rs762040245
NM_000289.6(PFKM):c.1224G>T (p.Val408=)
NM_000289.6(PFKM):c.1248T>C (p.Asn416=)
NM_000289.6(PFKM):c.1254T>G (p.Ala418=) rs1592789513
NM_000289.6(PFKM):c.1266T>C (p.Thr422=)
NM_000289.6(PFKM):c.1281T>C (p.Leu427=)
NM_000289.6(PFKM):c.1293C>T (p.Asn431=) rs1325830143
NM_000289.6(PFKM):c.1302C>G (p.Leu434=)
NM_000289.6(PFKM):c.1302C>T (p.Leu434=) rs1217619963
NM_000289.6(PFKM):c.1314T>C (p.Asp438=)
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1342-13C>T
NM_000289.6(PFKM):c.1342-7C>T rs1592793920
NM_000289.6(PFKM):c.1342-8C>T
NM_000289.6(PFKM):c.1342-9del rs2136000813
NM_000289.6(PFKM):c.1347G>A (p.Glu449=) rs1383781379
NM_000289.6(PFKM):c.1383C>T (p.Gly461=)
NM_000289.6(PFKM):c.1392C>T (p.Gly464=)
NM_000289.6(PFKM):c.1407T>C (p.Thr469=)
NM_000289.6(PFKM):c.1412+11C>G
NM_000289.6(PFKM):c.1412+14C>T
NM_000289.6(PFKM):c.1412+16G>T
NM_000289.6(PFKM):c.1412+17A>C
NM_000289.6(PFKM):c.1412+19G>T
NM_000289.6(PFKM):c.1412+20C>T
NM_000289.6(PFKM):c.1412+9C>T rs2136001614
NM_000289.6(PFKM):c.1413-16A>G
NM_000289.6(PFKM):c.1413-5A>T rs2136006212
NM_000289.6(PFKM):c.1416T>C (p.Thr472=) rs1950594557
NM_000289.6(PFKM):c.1417C>T (p.Leu473=) rs1950594770
NM_000289.6(PFKM):c.1443C>T (p.Ile481=) rs2136006513
NM_000289.6(PFKM):c.1452T>C (p.Asn484=)
NM_000289.6(PFKM):c.147C>T (p.Phe49=)
NM_000289.6(PFKM):c.1491G>C (p.Gly497=)
NM_000289.6(PFKM):c.1500+14A>G
NM_000289.6(PFKM):c.1500+15C>T
NM_000289.6(PFKM):c.1500+9C>T rs1315594001
NM_000289.6(PFKM):c.1501-12TCT[2] rs1230657170
NM_000289.6(PFKM):c.1501-5C>A
NM_000289.6(PFKM):c.1501-8C>T
NM_000289.6(PFKM):c.1503T>A (p.Ala501=) rs1421392490
NM_000289.6(PFKM):c.1503T>G (p.Ala501=) rs1421392490
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=) rs2136008624
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000289.6(PFKM):c.1521A>G (p.Glu507=) rs1592800238
NM_000289.6(PFKM):c.1522C>T (p.Leu508=)
NM_000289.6(PFKM):c.1530G>A (p.Glu510=)
NM_000289.6(PFKM):c.1557C>T (p.Cys519=)
NM_000289.6(PFKM):c.1563A>G (p.Pro521=) rs2136009337
NM_000289.6(PFKM):c.156T>C (p.His52=)
NM_000289.6(PFKM):c.1581T>C (p.Ala527=)
NM_000289.6(PFKM):c.1587C>T (p.Val529=) rs1406744971
NM_000289.6(PFKM):c.159+11T>C
NM_000289.6(PFKM):c.159+14T>C
NM_000289.6(PFKM):c.159+16T>C
NM_000289.6(PFKM):c.1596T>C (p.Asn532=)
NM_000289.6(PFKM):c.1599C>A (p.Val533=) rs1308260209
NM_000289.6(PFKM):c.15G>A (p.Glu5=)
NM_000289.6(PFKM):c.160-11G>A
NM_000289.6(PFKM):c.160-13A>C
NM_000289.6(PFKM):c.160-13A>T
NM_000289.6(PFKM):c.160-14A>G
NM_000289.6(PFKM):c.160-16A>G
NM_000289.6(PFKM):c.160-18G>A
NM_000289.6(PFKM):c.160-4A>G
NM_000289.6(PFKM):c.1626T>C (p.Ala542=) rs2136010141
NM_000289.6(PFKM):c.1632A>G (p.Thr544=) rs2136010299
NM_000289.6(PFKM):c.1644T>C (p.Thr548=)
NM_000289.6(PFKM):c.1647C>A (p.Ile549=) rs780042405
NM_000289.6(PFKM):c.1653+12T>A
NM_000289.6(PFKM):c.1653+15C>T
NM_000289.6(PFKM):c.1653+19T>C
NM_000289.6(PFKM):c.1653+7G>A
NM_000289.6(PFKM):c.1653+8C>G rs369425921
NM_000289.6(PFKM):c.1653+9C>A rs1442520537
NM_000289.6(PFKM):c.1654-20A>G
NM_000289.6(PFKM):c.1654-5T>C
NM_000289.6(PFKM):c.1654-7C>T
NM_000289.6(PFKM):c.1659T>C (p.Cys553=) rs2136019328
NM_000289.6(PFKM):c.1695T>C (p.Arg565=)
NM_000289.6(PFKM):c.1701G>A (p.Val567=) rs2136019645
NM_000289.6(PFKM):c.1707C>A (p.Ile569=)
NM_000289.6(PFKM):c.1713G>A (p.Glu571=)
NM_000289.6(PFKM):c.171C>A (p.Gly57=) rs1949456909
NM_000289.6(PFKM):c.171C>T (p.Gly57=)
NM_000289.6(PFKM):c.1725C>T (p.Gly575=)
NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)
NM_000289.6(PFKM):c.1746C>T (p.Thr582=) rs2136020208
NM_000289.6(PFKM):c.1761A>C (p.Ala587=)
NM_000289.6(PFKM):c.1767G>C (p.Gly589=)
NM_000289.6(PFKM):c.1779C>G (p.Ala593=) rs1592808888
NM_000289.6(PFKM):c.1791G>A (p.Glu597=)
NM_000289.6(PFKM):c.1797C>T (p.Pro599=)
NM_000289.6(PFKM):c.1803C>T (p.Thr601=)
NM_000289.6(PFKM):c.1807C>A (p.Arg603=)
NM_000289.6(PFKM):c.1812C>T (p.Asp604=)
NM_000289.6(PFKM):c.1818+13C>A
NM_000289.6(PFKM):c.1818+15A>G
NM_000289.6(PFKM):c.1818+17del
NM_000289.6(PFKM):c.1818+19C>A
NM_000289.6(PFKM):c.1819-9C>A rs755585302
NM_000289.6(PFKM):c.1819-9C>G
NM_000289.6(PFKM):c.1834C>T (p.Leu612=) rs2136032182
NM_000289.6(PFKM):c.1842A>G (p.Gln614=)
NM_000289.6(PFKM):c.1866G>A (p.Arg622=)
NM_000289.6(PFKM):c.186A>C (p.Gly62=) rs750471184
NM_000289.6(PFKM):c.1875G>A (p.Val625=) rs1321101853
NM_000289.6(PFKM):c.1880+11C>G
NM_000289.6(PFKM):c.1880+12A>G
NM_000289.6(PFKM):c.1880+13T>C
NM_000289.6(PFKM):c.1880+19G>C
NM_000289.6(PFKM):c.1880+19G>T
NM_000289.6(PFKM):c.1881-8C>T rs779486479
NM_000289.6(PFKM):c.1884T>C (p.Asn628=) rs2136035977
NM_000289.6(PFKM):c.1896T>C (p.Asn632=)
NM_000289.6(PFKM):c.18C>T (p.His6=)
NM_000289.6(PFKM):c.1902C>T (p.Asn634=)
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=)
NM_000289.6(PFKM):c.1908C>G (p.Thr636=)
NM_000289.6(PFKM):c.192C>T (p.His64=) rs2135857209
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=) rs1950814614
NM_000289.6(PFKM):c.1938G>A (p.Glu646=)
NM_000289.6(PFKM):c.1941G>A (p.Glu647=) rs2136036321
NM_000289.6(PFKM):c.1947G>A (p.Lys649=)
NM_000289.6(PFKM):c.1953C>A (p.Ile651=)
NM_000289.6(PFKM):c.1962C>T (p.Ser654=)
NM_000289.6(PFKM):c.1989G>A (p.Gln663=)
NM_000289.6(PFKM):c.1992+13C>G
NM_000289.6(PFKM):c.1992+13C>T
NM_000289.6(PFKM):c.1992+14C>T
NM_000289.6(PFKM):c.1992+15G>A
NM_000289.6(PFKM):c.1992+17A>G
NM_000289.6(PFKM):c.1992+20C>A
NM_000289.6(PFKM):c.1992+20C>T
NM_000289.6(PFKM):c.1993-16A>G
NM_000289.6(PFKM):c.1993-16_1993-15del
NM_000289.6(PFKM):c.1995T>C (p.Gly665=) rs770758369
NM_000289.6(PFKM):c.2001C>T (p.Ser667=)
NM_000289.6(PFKM):c.2007C>A (p.Thr669=)
NM_000289.6(PFKM):c.2019G>A (p.Arg673=) rs1950913988
NM_000289.6(PFKM):c.201A>G (p.Glu67=)
NM_000289.6(PFKM):c.2043C>A (p.Ala681=)
NM_000289.6(PFKM):c.2043C>T (p.Ala681=)
NM_000289.6(PFKM):c.2046G>A (p.Lys682=)
NM_000289.6(PFKM):c.204C>T (p.Ala68=) rs2135857231
NM_000289.6(PFKM):c.2064T>G (p.Ser688=)
NM_000289.6(PFKM):c.2070A>G (p.Lys690=)
NM_000289.6(PFKM):c.2073C>A (p.Ile691=)
NM_000289.6(PFKM):c.2092+12G>A
NM_000289.6(PFKM):c.2092+18G>A
NM_000289.6(PFKM):c.2092+20G>A
NM_000289.6(PFKM):c.2092+7G>A rs2136049384
NM_000289.6(PFKM):c.2092+8G>A rs2136049447
NM_000289.6(PFKM):c.2092+9G>A rs371778846
NM_000289.6(PFKM):c.2093-5T>C rs2136050932
NM_000289.6(PFKM):c.2093-6T>C
NM_000289.6(PFKM):c.2093-7A>C
NM_000289.6(PFKM):c.2093-8C>T
NM_000289.6(PFKM):c.2106C>T (p.Ala702=)
NM_000289.6(PFKM):c.2124C>G (p.Gly708=)
NM_000289.6(PFKM):c.2127T>C (p.Cys709=) rs2136051296
NM_000289.6(PFKM):c.2133G>A (p.Leu711=)
NM_000289.6(PFKM):c.2166A>G (p.Pro722=) rs2136051603
NM_000289.6(PFKM):c.2169G>A (p.Val723=)
NM_000289.6(PFKM):c.2175G>A (p.Glu725=)
NM_000289.6(PFKM):c.2184C>T (p.Asp728=)
NM_000289.6(PFKM):c.2190A>G (p.Thr730=) rs926218950
NM_000289.6(PFKM):c.2190A>T (p.Thr730=)
NM_000289.6(PFKM):c.2198+8C>T
NM_000289.6(PFKM):c.2198+9A>C
NM_000289.6(PFKM):c.2198+9A>G
NM_000289.6(PFKM):c.2199-15C>T
NM_000289.6(PFKM):c.2199-16C>T
NM_000289.6(PFKM):c.2199-5T>C
NM_000289.6(PFKM):c.2199-8C>T
NM_000289.6(PFKM):c.2199-9C>T rs2136054913
NM_000289.6(PFKM):c.21T>C (p.His7=) rs2137860144
NM_000289.6(PFKM):c.2211C>G (p.Pro737=) rs1165739164
NM_000289.6(PFKM):c.2217A>G (p.Glu739=) rs1950977568
NM_000289.6(PFKM):c.2220G>A (p.Gln740=)
NM_000289.6(PFKM):c.222G>T (p.Ser74=) rs754074132
NM_000289.6(PFKM):c.2236A>C (p.Arg746=) rs1592832534
NM_000289.6(PFKM):c.2241C>A (p.Pro747=)
NM_000289.6(PFKM):c.2241C>T (p.Pro747=) rs1350195023
NM_000289.6(PFKM):c.2244C>A (p.Ile748=)
NM_000289.6(PFKM):c.2247C>T (p.Leu749=)
NM_000289.6(PFKM):c.2259C>T (p.Ala753=)
NM_000289.6(PFKM):c.2262G>A (p.Lys754=)
NM_000289.6(PFKM):c.2268G>A (p.Glu756=) rs2136055950
NM_000289.6(PFKM):c.2271T>C (p.Ile757=)
NM_000289.6(PFKM):c.2277G>A (p.Leu759=) rs1430120826
NM_000289.6(PFKM):c.2283T>C (p.Thr761=)
NM_000289.6(PFKM):c.2286A>G (p.Ser762=) rs1592832978
NM_000289.6(PFKM):c.2298C>T (p.His766=)
NM_000289.6(PFKM):c.2307C>T (p.His769=)
NM_000289.6(PFKM):c.2313C>T (p.Thr771=)
NM_000289.6(PFKM):c.2322G>A (p.Arg774=) rs2136056634
NM_000289.6(PFKM):c.2334T>A (p.Ala778=) rs8716
NM_000289.6(PFKM):c.2337C>G (p.Ala779=) rs748647298
NM_000289.6(PFKM):c.237+17T>C
NM_000289.6(PFKM):c.237+8C>T
NM_000289.6(PFKM):c.262C>A (p.Arg88=)
NM_000289.6(PFKM):c.264G>A (p.Arg88=)
NM_000289.6(PFKM):c.277C>A (p.Arg93=)
NM_000289.6(PFKM):c.291A>C (p.Gly97=) rs2135884772
NM_000289.6(PFKM):c.297C>T (p.Leu99=) rs1181881387
NM_000289.6(PFKM):c.309C>T (p.Tyr103=) rs2135885049
NM_000289.6(PFKM):c.321G>A (p.Lys107=)
NM_000289.6(PFKM):c.34C>T (p.Leu12=)
NM_000289.6(PFKM):c.354T>A (p.Gly118=)
NM_000289.6(PFKM):c.354T>C (p.Gly118=) rs1187514309
NM_000289.6(PFKM):c.363C>T (p.Ser121=)
NM_000289.6(PFKM):c.366C>T (p.Leu122=) rs2135886000
NM_000289.6(PFKM):c.369T>G (p.Thr123=) rs1592727757
NM_000289.6(PFKM):c.372G>A (p.Gly124=)
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
NM_000289.6(PFKM):c.427+17A>T
NM_000289.6(PFKM):c.427+20A>G
NM_000289.6(PFKM):c.427+9G>A
NM_000289.6(PFKM):c.428-10T>C rs2135891586
NM_000289.6(PFKM):c.428-20G>C
NM_000289.6(PFKM):c.428-5G>T
NM_000289.6(PFKM):c.428-6T>C rs2135891715
NM_000289.6(PFKM):c.428-7T>C
NM_000289.6(PFKM):c.428-9C>T
NM_000289.6(PFKM):c.438A>G (p.Thr146=)
NM_000289.6(PFKM):c.438A>T (p.Thr146=) rs2135892064
NM_000289.6(PFKM):c.453G>C (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.489G>T (p.Gly163=)
NM_000289.6(PFKM):c.492A>C (p.Ser164=)
NM_000289.6(PFKM):c.507C>T (p.Phe169=) rs777395109
NM_000289.6(PFKM):c.531C>A (p.Gly177=)
NM_000289.6(PFKM):c.534T>C (p.Thr178=) rs146157053
NM_000289.6(PFKM):c.543C>T (p.Ala181=) rs1370905542
NM_000289.6(PFKM):c.549T>C (p.His183=)
NM_000289.6(PFKM):c.552G>T (p.Arg184=) rs976955357
NM_000289.6(PFKM):c.564T>C (p.Ile188=) rs1949732821
NM_000289.6(PFKM):c.573C>T (p.Ala191=) rs2135894032
NM_000289.6(PFKM):c.582C>T (p.Thr194=)
NM_000289.6(PFKM):c.593+10C>G rs1949737425
NM_000289.6(PFKM):c.593+12T>A
NM_000289.6(PFKM):c.593+15G>A
NM_000289.6(PFKM):c.593+18G>A
NM_000289.6(PFKM):c.593+18G>C
NM_000289.6(PFKM):c.593+8G>A rs2135894357
NM_000289.6(PFKM):c.594-11A>G
NM_000289.6(PFKM):c.594-12T>C
NM_000289.6(PFKM):c.594-12dup
NM_000289.6(PFKM):c.594-13C>T
NM_000289.6(PFKM):c.594-14T>A
NM_000289.6(PFKM):c.594-16T>C
NM_000289.6(PFKM):c.594-17A>C
NM_000289.6(PFKM):c.594-17_594-16del
NM_000289.6(PFKM):c.594-18T>C
NM_000289.6(PFKM):c.594-19A>G
NM_000289.6(PFKM):c.594-20C>T
NM_000289.6(PFKM):c.594-4G>A rs774807994
NM_000289.6(PFKM):c.594-5T>C
NM_000289.6(PFKM):c.594-7C>T rs1458751002
NM_000289.6(PFKM):c.601A>C (p.Arg201=)
NM_000289.6(PFKM):c.606A>G (p.Thr202=) rs2135907037
NM_000289.6(PFKM):c.627C>A (p.Gly209=) rs930544072
NM_000289.6(PFKM):c.627C>G (p.Gly209=) rs930544072
NM_000289.6(PFKM):c.638+12A>C
NM_000289.6(PFKM):c.638+18A>C
NM_000289.6(PFKM):c.638+18A>G
NM_000289.6(PFKM):c.638+7T>A
NM_000289.6(PFKM):c.639-10C>G rs2135915213
NM_000289.6(PFKM):c.639-17T>C
NM_000289.6(PFKM):c.639-7A>T
NM_000289.6(PFKM):c.639-8C>T
NM_000289.6(PFKM):c.657C>T (p.Thr219=)
NM_000289.6(PFKM):c.660T>C (p.Ser220=)
NM_000289.6(PFKM):c.666C>T (p.Ser222=) rs1249664880
NM_000289.6(PFKM):c.687T>C (p.Phe229=) rs2135915804
NM_000289.6(PFKM):c.702A>C (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.702A>G (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.708T>C (p.Asp236=)
NM_000289.6(PFKM):c.720G>A (p.Glu240=)
NM_000289.6(PFKM):c.732T>C (p.Cys244=) rs1406800853
NM_000289.6(PFKM):c.735C>T (p.Arg245=) rs2135916916
NM_000289.6(PFKM):c.747+10C>G
NM_000289.6(PFKM):c.747+19_747+24del
NM_000289.6(PFKM):c.747+7_747+12del
NM_000289.6(PFKM):c.747+8C>T
NM_000289.6(PFKM):c.747+9A>G rs2135917272
NM_000289.6(PFKM):c.748-18C>T
NM_000289.6(PFKM):c.748-19A>G
NM_000289.6(PFKM):c.748-4C>T rs2135919001
NM_000289.6(PFKM):c.748-6A>G rs2135918960
NM_000289.6(PFKM):c.765T>G (p.Ser255=)
NM_000289.6(PFKM):c.768T>C (p.Arg256=)
NM_000289.6(PFKM):c.774C>T (p.Asn258=) rs894740706
NM_000289.6(PFKM):c.777C>T (p.Ile259=) rs2135919616
NM_000289.6(PFKM):c.783T>A (p.Ile261=)
NM_000289.6(PFKM):c.783T>C (p.Ile261=)
NM_000289.6(PFKM):c.786G>A (p.Val262=)
NM_000289.6(PFKM):c.789T>C (p.Ala263=)
NM_000289.6(PFKM):c.819A>G (p.Pro273=)
NM_000289.6(PFKM):c.843+16G>A
NM_000289.6(PFKM):c.843+20G>A
NM_000289.6(PFKM):c.844-11G>T
NM_000289.6(PFKM):c.844-6C>T rs769686642
NM_000289.6(PFKM):c.85+11G>C
NM_000289.6(PFKM):c.85+13G>A
NM_000289.6(PFKM):c.85+16del
NM_000289.6(PFKM):c.85+8G>T rs772038099
NM_000289.6(PFKM):c.85+9G>A rs777960882
NM_000289.6(PFKM):c.85+9del
NM_000289.6(PFKM):c.852T>G (p.Val284=)
NM_000289.6(PFKM):c.859C>T (p.Leu287=) rs925038213
NM_000289.6(PFKM):c.86-14G>T
NM_000289.6(PFKM):c.86-5T>C
NM_000289.6(PFKM):c.86-8C>T
NM_000289.6(PFKM):c.867T>C (p.Tyr289=)
NM_000289.6(PFKM):c.870C>T (p.Asp290=) rs2135924488
NM_000289.6(PFKM):c.873C>A (p.Thr291=)
NM_000289.6(PFKM):c.879T>C (p.Val293=)
NM_000289.6(PFKM):c.886T>C (p.Leu296=)
NM_000289.6(PFKM):c.891G>T (p.Gly297=) rs2135924830
NM_000289.6(PFKM):c.903G>A (p.Arg301=) rs2135924903
NM_000289.6(PFKM):c.921C>T (p.Ala307=) rs2135925089
NM_000289.6(PFKM):c.936+10T>C rs2135925401
NM_000289.6(PFKM):c.936+10_936+28del
NM_000289.6(PFKM):c.936+12G>C
NM_000289.6(PFKM):c.936+20G>A
NM_000289.6(PFKM):c.936+9C>T
NM_000289.6(PFKM):c.937-13T>C
NM_000289.6(PFKM):c.937-15T>C
NM_000289.6(PFKM):c.937-18T>A
NM_000289.6(PFKM):c.937-19G>A
NM_000289.6(PFKM):c.937-4G>A rs1175020971
NM_000289.6(PFKM):c.937-6C>T rs1245827075
NM_000289.6(PFKM):c.937-8T>A
NM_000289.6(PFKM):c.937-8T>C rs2135956395
NM_000289.6(PFKM):c.93T>C (p.Asn31=) rs2135841860
NM_000289.6(PFKM):c.942C>T (p.Ser314=)
NM_000289.6(PFKM):c.943A>C (p.Arg315=)
NM_000289.6(PFKM):c.945G>A (p.Arg315=)
NM_000289.6(PFKM):c.954G>A (p.Val318=)
NM_000289.6(PFKM):c.957A>G (p.Glu319=)
NM_000289.6(PFKM):c.972T>A (p.Leu324=)
NM_000289.6(PFKM):c.987A>G (p.Pro329=) rs932393961
NM_000289.6(PFKM):c.996A>G (p.Pro332=)
NM_000289.6(PFKM):c.9T>C (p.His3=)

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