ClinVar Miner

List of variants reported as likely benign for familial hemolytic anemia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1295
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_001243177.4(ALDOA):c.274+4C>T rs200278984 0.00204
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912 0.00176
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_001243177.4(ALDOA):c.787-20G>A rs75559164 0.00071
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=) rs142231603 0.00058
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_000289.6(PFKM):c.495T>A (p.Ile165=) rs148858610 0.00046
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=) rs143419532 0.00046
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_000289.6(PFKM):c.1611C>T (p.Asp537=) rs764961084 0.00031
NM_006363.6(SEC23B):c.358G>A (p.Val120Met) rs372784283 0.00031
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686 0.00028
NM_006363.6(SEC23B):c.280-6T>C rs370880370 0.00028
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833 0.00028
NM_001243177.4(ALDOA):c.962-20G>A rs189723657 0.00025
NM_001360016.2(G6PD):c.1052-4G>A rs372124193 0.00025
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=) rs530834583 0.00023
NM_000289.6(PFKM):c.1653+8C>T rs369425921 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_006363.6(SEC23B):c.279+18A>T rs769730409 0.00021
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=) rs772550893 0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548 0.00017
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=) rs201943863 0.00016
NM_001243177.4(ALDOA):c.961+12A>G rs200733968 0.00014
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00013
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043 0.00013
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile) rs782130334 0.00013
NM_001360016.2(G6PD):c.738C>T (p.Arg246=) rs144341068 0.00013
NM_001360016.2(G6PD):c.1458-12G>A rs369024848 0.00012
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007 0.00012
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_001360016.2(G6PD):c.121-20A>T rs782444702 0.00011
NM_006363.6(SEC23B):c.835-11C>T rs370797703 0.00011
NM_001360016.2(G6PD):c.957C>T (p.Thr319=) rs199702562 0.00010
NM_001360016.2(G6PD):c.990C>T (p.Arg330=) rs782064465 0.00010
NM_000289.6(PFKM):c.597C>T (p.His199=) rs554169766 0.00009
NM_000289.6(PFKM):c.747+10C>T rs1372921221 0.00009
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg) rs140466726 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_001243177.4(ALDOA):c.275-5C>T rs752764982 0.00008
NM_001360016.2(G6PD):c.1051+16G>A rs782637386 0.00008
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=) rs369482861 0.00008
NM_000289.6(PFKM):c.594-18T>A rs372899080 0.00007
NM_001360016.2(G6PD):c.1052-19T>C rs782238350 0.00007
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=) rs766473215 0.00007
NM_000289.6(PFKM):c.238-17T>A rs377146498 0.00006
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001360016.2(G6PD):c.1014A>G (p.Ala338=) rs1401465965 0.00006
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=) rs186843026 0.00006
NM_001360016.2(G6PD):c.795G>A (p.Leu265=) rs374222477 0.00006
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_001243177.4(ALDOA):c.1002G>A (p.Ala334=) rs532473202 0.00005
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=) rs150741747 0.00005
NM_001360016.2(G6PD):c.1065C>T (p.Ile355=) rs1557229753 0.00005
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=) rs781798712 0.00005
NM_001360016.2(G6PD):c.207C>T (p.Gly69=) rs782770344 0.00005
NM_001360016.2(G6PD):c.696C>T (p.Cys232=) rs782061495 0.00005
NM_001360016.2(G6PD):c.865-16C>T rs199970830 0.00005
NM_001360016.2(G6PD):c.972C>T (p.Asp324=) rs782534709 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_001243177.4(ALDOA):c.1161+8T>C rs751467136 0.00004
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=) rs751360534 0.00004
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=) rs765883841 0.00004
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=) rs148503847 0.00004
NM_001360016.2(G6PD):c.121-13C>T rs782558415 0.00004
NM_001360016.2(G6PD):c.1287+18A>G rs782133149 0.00004
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00004
NM_001360016.2(G6PD):c.268-11G>A rs781983059 0.00004
NM_001360016.2(G6PD):c.435C>T (p.Thr145=) rs1451145498 0.00004
NM_001360016.2(G6PD):c.771-8G>A rs368790003 0.00004
NM_001360016.2(G6PD):c.813G>A (p.Val271=) rs782732134 0.00004
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=) rs778443189 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_001243177.4(ALDOA):c.487-9C>T rs1057523259 0.00003
NM_001243177.4(ALDOA):c.945G>C (p.Val315=) rs780658545 0.00003
NM_001360016.2(G6PD):c.1023C>T (p.Val341=) rs201321423 0.00003
NM_001360016.2(G6PD):c.1051+11C>G rs1258960910 0.00003
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=) rs368898047 0.00003
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=) rs782432107 0.00003
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=) rs370808115 0.00003
NM_001360016.2(G6PD):c.1365-7C>T rs1168711308 0.00003
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=) rs1230419397 0.00003
NM_001360016.2(G6PD):c.158+13C>T rs990745079 0.00003
NM_001360016.2(G6PD):c.644+20G>A rs782108377 0.00003
NM_001360016.2(G6PD):c.645-7C>T rs782468778 0.00003
NM_001360016.2(G6PD):c.864+14C>T rs782416820 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_001243177.4(ALDOA):c.498C>T (p.Gly166=) rs145811469 0.00002
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=) rs769378422 0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=) rs1440647556 0.00002
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=) rs1166552162 0.00002
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) rs782623392 0.00002
NM_001360016.2(G6PD):c.1287+19G>A rs781980305 0.00002
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=) rs1557229582 0.00002
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=) rs782170250 0.00002
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=) rs781829860 0.00002
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=) rs377659103 0.00002
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=) rs782797399 0.00002
NM_001360016.2(G6PD):c.1457+19C>T rs1557229460 0.00002
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=) rs782206043 0.00002
NM_001360016.2(G6PD):c.186C>T (p.Pro62=) rs781875587 0.00002
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu) rs781794862 0.00002
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=) rs1307320948 0.00002
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=) rs375189502 0.00002
NM_001360016.2(G6PD):c.564C>T (p.Ser188=) rs200626353 0.00002
NM_001360016.2(G6PD):c.597C>T (p.Ile199=) rs369516039 0.00002
NM_001360016.2(G6PD):c.708C>T (p.Thr236=) rs782118135 0.00002
NM_001360016.2(G6PD):c.750C>T (p.Phe250=) rs140496395 0.00002
NM_001360016.2(G6PD):c.771-11T>C rs782622284 0.00002
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_006363.6(SEC23B):c.328T>C (p.Leu110=) rs368413002 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.238-9C>T rs1410090927 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.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
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=) rs3169548 0.00001
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=) rs758280973 0.00001
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=) rs573479181 0.00001
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp) rs565013143 0.00001
NM_001360016.2(G6PD):c.1052-10C>T rs1557229778 0.00001
NM_001360016.2(G6PD):c.1052-9G>A rs1334473526 0.00001
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=) rs80280508 0.00001
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=) rs782078151 0.00001
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=) rs375809290 0.00001
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=) rs1557229739 0.00001
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=) rs371808526 0.00001
NM_001360016.2(G6PD):c.1287+14A>G rs1557229641 0.00001
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=) rs782761811 0.00001
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=) rs1557229604 0.00001
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=) rs1557229428 0.00001
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=) rs781923155 0.00001
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=) rs1447713922 0.00001
NM_001360016.2(G6PD):c.153C>T (p.Thr51=) rs2070406324 0.00001
NM_001360016.2(G6PD):c.177C>T (p.Gly59=) rs1557230778 0.00001
NM_001360016.2(G6PD):c.228A>T (p.Thr76=) rs782143230 0.00001
NM_001360016.2(G6PD):c.267+7G>A rs2070402994 0.00001
NM_001360016.2(G6PD):c.309C>T (p.Ala103=) rs781967989 0.00001
NM_001360016.2(G6PD):c.333G>A (p.Gln111=) rs782572765 0.00001
NM_001360016.2(G6PD):c.396A>C (p.Ser132=) rs1557230597 0.00001
NM_001360016.2(G6PD):c.432G>A (p.Pro144=) rs782618375 0.00001
NM_001360016.2(G6PD):c.447C>T (p.Ala149=) rs1557230574 0.00001
NM_001360016.2(G6PD):c.485+13G>A rs781898381 0.00001
NM_001360016.2(G6PD):c.516C>T (p.Pro172=) rs781805733 0.00001
NM_001360016.2(G6PD):c.645-12C>T rs1020037412 0.00001
NM_001360016.2(G6PD):c.645-8C>T rs782599047 0.00001
NM_001360016.2(G6PD):c.648T>C (p.Phe216=) rs137852319 0.00001
NM_001360016.2(G6PD):c.654C>T (p.Asn218=) rs1557230228 0.00001
NM_001360016.2(G6PD):c.663C>T (p.Phe221=) rs782530472 0.00001
NM_001360016.2(G6PD):c.771-9C>T rs1237524196 0.00001
NM_001360016.2(G6PD):c.774C>T (p.Asp258=) rs1252251475 0.00001
NM_001360016.2(G6PD):c.865-5C>T rs781920344 0.00001
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=) rs758029042 0.00001
NM_006363.6(SEC23B):c.1234-11A>G rs187699090 0.00001
NM_006363.6(SEC23B):c.123C>T (p.Leu41=) rs554409729 0.00001
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=) rs767683935 0.00001
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=) rs201656419 0.00001
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=) rs900752773 0.00001
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=) rs921580564 0.00001
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=) rs779351917 0.00001
NM_006363.6(SEC23B):c.1992+12T>C rs780986610 0.00001
NM_006363.6(SEC23B):c.711G>A (p.Lys237=) rs773579451 0.00001
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.1063-16TG[4]
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.1128-19C>T
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.1263C>T (p.Ser421=)
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.1413-4C>T
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+12C>T
NM_000289.6(PFKM):c.1500+14A>G
NM_000289.6(PFKM):c.1500+15C>T
NM_000289.6(PFKM):c.1500+18T>C
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.1539G>A (p.Lys513=)
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.1662C>T (p.Asp554=)
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.177G>A (p.Val59=)
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.1819-15C>T
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.1836G>C (p.Leu612=)
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+18G>A
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.2199-18T>G
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.2312C>T (p.Thr771Ile)
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+19C>T
NM_000289.6(PFKM):c.237+8C>T
NM_000289.6(PFKM):c.238-12C>T
NM_000289.6(PFKM):c.238-13A>G
NM_000289.6(PFKM):c.238-20G>A
NM_000289.6(PFKM):c.24A>G (p.Ala8=)
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.381C>T (p.Thr127=)
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
NM_000289.6(PFKM):c.427+16C>T
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.428-11C>T
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.492A>G (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+18A>T
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.672G>A (p.Gly224=)
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+19G>T
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.748-7C>T
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.846G>T (p.Leu282=)
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+18A>G
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.86-4T>C
NM_000289.6(PFKM):c.86-4T>G
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.882T>C (p.Thr294=)
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=)
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
NM_001243177.4(ALDOA):c.1161+14G>T
NM_001243177.4(ALDOA):c.1161+15G>A
NM_001243177.4(ALDOA):c.1161+9A>T
NM_001243177.4(ALDOA):c.1161+9_1161+19dup
NM_001243177.4(ALDOA):c.1162-11T>C
NM_001243177.4(ALDOA):c.1162-14C>A
NM_001243177.4(ALDOA):c.1162-14C>T
NM_001243177.4(ALDOA):c.1162-16C>T
NM_001243177.4(ALDOA):c.1162-17C>T
NM_001243177.4(ALDOA):c.1162-18A>T
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
NM_001243177.4(ALDOA):c.1239C>T (p.Val413=)
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=) rs2072147536
NM_001243177.4(ALDOA):c.183A>G (p.Ala61=)
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
NM_001243177.4(ALDOA):c.246G>A (p.Lys82=)
NM_001243177.4(ALDOA):c.275-11G>C
NM_001243177.4(ALDOA):c.275-15A>G
NM_001243177.4(ALDOA):c.275-3del
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
NM_001243177.4(ALDOA):c.318C>A (p.Thr106=)
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
NM_001243177.4(ALDOA):c.346C>T (p.Leu116=)
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
NM_001243177.4(ALDOA):c.486+10G>A
NM_001243177.4(ALDOA):c.486+14C>T
NM_001243177.4(ALDOA):c.486+16C>T
NM_001243177.4(ALDOA):c.486+17C>T
NM_001243177.4(ALDOA):c.486+18G>A
NM_001243177.4(ALDOA):c.486+19G>A
NM_001243177.4(ALDOA):c.486+9A>C
NM_001243177.4(ALDOA):c.487-10A>G
NM_001243177.4(ALDOA):c.487-14C>T
NM_001243177.4(ALDOA):c.487-19G>A
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
NM_001243177.4(ALDOA):c.541+18C>G
NM_001243177.4(ALDOA):c.541+8C>T
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.702+12G>A
NM_001243177.4(ALDOA):c.702+17T>C
NM_001243177.4(ALDOA):c.702+20A>G
NM_001243177.4(ALDOA):c.702+7C>T
NM_001243177.4(ALDOA):c.702+8T>C
NM_001243177.4(ALDOA):c.703-10C>T
NM_001243177.4(ALDOA):c.703-12C>T
NM_001243177.4(ALDOA):c.703-16dup
NM_001243177.4(ALDOA):c.703-7C>T
NM_001243177.4(ALDOA):c.703-9G>A
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
NM_001243177.4(ALDOA):c.786+11A>G
NM_001243177.4(ALDOA):c.787-12G>C
NM_001243177.4(ALDOA):c.787-17C>T
NM_001243177.4(ALDOA):c.787-19T>C
NM_001243177.4(ALDOA):c.787-4C>T
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
NM_001243177.4(ALDOA):c.961+15C>T
NM_001243177.4(ALDOA):c.962-11C>T
NM_001243177.4(ALDOA):c.962-14C>T
NM_001243177.4(ALDOA):c.962-7T>G
NM_001243177.4(ALDOA):c.962-8C>T
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001243177.4(ALDOA):c.984C>T (p.Gly328=)
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
NM_001360016.2(G6PD):c.1020C>T (p.Val340=)
NM_001360016.2(G6PD):c.1051+11C>T rs1258960910
NM_001360016.2(G6PD):c.1051+15C>A rs2070358006
NM_001360016.2(G6PD):c.1051+19G>C
NM_001360016.2(G6PD):c.1052-15C>T
NM_001360016.2(G6PD):c.1052-16C>A
NM_001360016.2(G6PD):c.1052-8C>G
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=) rs782533137
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=)
NM_001360016.2(G6PD):c.1056G>A (p.Val352=)
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=) rs2070354836
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
NM_001360016.2(G6PD):c.1161C>T (p.Arg387=)
NM_001360016.2(G6PD):c.1182G>A (p.Val394=) rs2148328863
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
NM_001360016.2(G6PD):c.120+13C>G
NM_001360016.2(G6PD):c.120+14A>T
NM_001360016.2(G6PD):c.120+7A>G rs369904290
NM_001360016.2(G6PD):c.120+9C>T rs886044853
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=) rs2148328821
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=)
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=) rs1355739430
NM_001360016.2(G6PD):c.121-19C>A
NM_001360016.2(G6PD):c.121-4A>C
NM_001360016.2(G6PD):c.121-5C>T
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=) rs781879876
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=) rs2148328776
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=) rs2148328772
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=) rs2148328766
NM_001360016.2(G6PD):c.1287+7T>C
NM_001360016.2(G6PD):c.1288-11C>T
NM_001360016.2(G6PD):c.1288-12T>A rs2148328659
NM_001360016.2(G6PD):c.1288-13C>G
NM_001360016.2(G6PD):c.1288-14T>A
NM_001360016.2(G6PD):c.1288-15C>T
NM_001360016.2(G6PD):c.1288-16A>C
NM_001360016.2(G6PD):c.1288-17C>G
NM_001360016.2(G6PD):c.1288-19G>A
NM_001360016.2(G6PD):c.1288-4A>G
NM_001360016.2(G6PD):c.1288-5C>T
NM_001360016.2(G6PD):c.1288-8C>A rs2148328644
NM_001360016.2(G6PD):c.1288-8C>T rs2148328644
NM_001360016.2(G6PD):c.1293G>A (p.Val431=)
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=)
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=)
NM_001360016.2(G6PD):c.132C>G (p.Ala44=)
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=) rs2148328562
NM_001360016.2(G6PD):c.1364+10A>G
NM_001360016.2(G6PD):c.1364+14G>T
NM_001360016.2(G6PD):c.1364+15C>T rs2148328536
NM_001360016.2(G6PD):c.1364+16C>T
NM_001360016.2(G6PD):c.1364+17G>A
NM_001360016.2(G6PD):c.1364+18G>A
NM_001360016.2(G6PD):c.1364+9C>G
NM_001360016.2(G6PD):c.1365-12A>G
NM_001360016.2(G6PD):c.1365-19C>T
NM_001360016.2(G6PD):c.1365-5C>T rs886044905
NM_001360016.2(G6PD):c.1365-8C>A
NM_001360016.2(G6PD):c.1365-8C>T
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=) rs2148328378
NM_001360016.2(G6PD):c.1428G>A (p.Lys476=)
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)
NM_001360016.2(G6PD):c.1457+10G>A rs2148328331
NM_001360016.2(G6PD):c.1457+11G>C
NM_001360016.2(G6PD):c.1457+11G>T
NM_001360016.2(G6PD):c.1457+12G>A
NM_001360016.2(G6PD):c.1457+14G>T
NM_001360016.2(G6PD):c.1457+15G>A
NM_001360016.2(G6PD):c.1457+17G>A
NM_001360016.2(G6PD):c.1457+9A>T
NM_001360016.2(G6PD):c.1458-13C>T rs371772243
NM_001360016.2(G6PD):c.1458-7T>A
NM_001360016.2(G6PD):c.1458-7T>C
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=) rs2148328181
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)
NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)
NM_001360016.2(G6PD):c.158+16C>T
NM_001360016.2(G6PD):c.158+17A>G
NM_001360016.2(G6PD):c.159-11C>T
NM_001360016.2(G6PD):c.159-16T>C
NM_001360016.2(G6PD):c.159-17C>T
NM_001360016.2(G6PD):c.159-8G>T rs2148331979
NM_001360016.2(G6PD):c.165G>A (p.Leu55=)
NM_001360016.2(G6PD):c.168C>T (p.Phe56=) rs2148331964
NM_001360016.2(G6PD):c.201C>T (p.Ile67=)
NM_001360016.2(G6PD):c.210T>C (p.Tyr70=)
NM_001360016.2(G6PD):c.213C>G (p.Ala71=)
NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
NM_001360016.2(G6PD):c.267+10G>A
NM_001360016.2(G6PD):c.267+10G>T
NM_001360016.2(G6PD):c.268-12C>T
NM_001360016.2(G6PD):c.268-13C>T
NM_001360016.2(G6PD):c.268-24TGTC[2]
NM_001360016.2(G6PD):c.268-6T>C
NM_001360016.2(G6PD):c.270C>T (p.Ala90=)
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
NM_001360016.2(G6PD):c.297G>A (p.Glu99=) rs2070395767
NM_001360016.2(G6PD):c.30C>A (p.Thr10=) rs982197712
NM_001360016.2(G6PD):c.318C>G (p.Ser106=)
NM_001360016.2(G6PD):c.318C>T (p.Ser106=) rs2148331419
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=) rs2148331412
NM_001360016.2(G6PD):c.345A>G (p.Ala115=)
NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
NM_001360016.2(G6PD):c.359G>A (p.Arg120His) rs782820967
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.384C>T (p.Leu128=) rs2148331335
NM_001360016.2(G6PD):c.414C>T (p.Phe138=) rs2148331303
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
NM_001360016.2(G6PD):c.423C>A (p.Ala141=)
NM_001360016.2(G6PD):c.423C>G (p.Ala141=) rs782627357
NM_001360016.2(G6PD):c.465C>T (p.His155=)
NM_001360016.2(G6PD):c.485+12C>T
NM_001360016.2(G6PD):c.485+14T>C
NM_001360016.2(G6PD):c.485+15T>A
NM_001360016.2(G6PD):c.485+15T>C
NM_001360016.2(G6PD):c.485+17C>T
NM_001360016.2(G6PD):c.486-6C>T
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
NM_001360016.2(G6PD):c.558C>T (p.His186=)
NM_001360016.2(G6PD):c.568C>T (p.Leu190=)
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
NM_001360016.2(G6PD):c.633C>G (p.Leu211=) rs781866029
NM_001360016.2(G6PD):c.644+10A>G
NM_001360016.2(G6PD):c.644+19C>T
NM_001360016.2(G6PD):c.644+7C>T
NM_001360016.2(G6PD):c.644+9A>C rs1279844136
NM_001360016.2(G6PD):c.645-10C>G
NM_001360016.2(G6PD):c.645-14G>T
NM_001360016.2(G6PD):c.645-9T>C rs2148330346
NM_001360016.2(G6PD):c.669C>T (p.Pro223=)
NM_001360016.2(G6PD):c.672C>T (p.Ile224=) rs2148330315
NM_001360016.2(G6PD):c.687C>T (p.Asn229=)
NM_001360016.2(G6PD):c.693C>T (p.Ala231=)
NM_001360016.2(G6PD):c.720C>T (p.Pro240=) rs2148330281
NM_001360016.2(G6PD):c.735T>C (p.Gly245=)
NM_001360016.2(G6PD):c.753T>C (p.Asp251=)
NM_001360016.2(G6PD):c.770+12T>C
NM_001360016.2(G6PD):c.770+8C>T
NM_001360016.2(G6PD):c.771-13C>A
NM_001360016.2(G6PD):c.771-13C>T
NM_001360016.2(G6PD):c.771-20C>G
NM_001360016.2(G6PD):c.771-20C>T
NM_001360016.2(G6PD):c.771-4C>T
NM_001360016.2(G6PD):c.786C>T (p.Asn262=) rs1179691681
NM_001360016.2(G6PD):c.78C>T (p.Phe26=) rs1487624588
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
NM_001360016.2(G6PD):c.810G>A (p.Leu270=)
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
NM_001360016.2(G6PD):c.864+10G>T rs2070368182
NM_001360016.2(G6PD):c.864+13C>T
NM_001360016.2(G6PD):c.864+16C>G
NM_001360016.2(G6PD):c.864+17A>G
NM_001360016.2(G6PD):c.864+7G>A rs782256985
NM_001360016.2(G6PD):c.864+8dup rs782714017
NM_001360016.2(G6PD):c.865-18C>T
NM_001360016.2(G6PD):c.867C>T (p.Val289=)
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
NM_001360016.2(G6PD):c.894G>T (p.Val298=)
NM_001360016.2(G6PD):c.909G>A (p.Val303=)
NM_001360016.2(G6PD):c.915G>A (p.Leu305=)
NM_001360016.2(G6PD):c.915G>T (p.Leu305=)
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=)
NM_001360016.2(G6PD):c.939T>C (p.Asp313=)
NM_001360016.2(G6PD):c.948C>T (p.Gly316=)
NM_001360016.2(G6PD):c.969G>A (p.Leu323=) rs2148329332
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
NM_006363.6(SEC23B):c.108A>G (p.Val36=)
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
NM_006363.6(SEC23B):c.1109+10C>G
NM_006363.6(SEC23B):c.1109+11A>C
NM_006363.6(SEC23B):c.1109+19C>A
NM_006363.6(SEC23B):c.1109+7T>C
NM_006363.6(SEC23B):c.1110-20A>T
NM_006363.6(SEC23B):c.1110-5C>T
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
NM_006363.6(SEC23B):c.1233+10A>C
NM_006363.6(SEC23B):c.1233+12T>A
NM_006363.6(SEC23B):c.1233+14_1233+15insA
NM_006363.6(SEC23B):c.1233+15T>A
NM_006363.6(SEC23B):c.1233+8_1233+9insG
NM_006363.6(SEC23B):c.1234-13A>C
NM_006363.6(SEC23B):c.1234-13A>G
NM_006363.6(SEC23B):c.1234-13A>T
NM_006363.6(SEC23B):c.1234-13del
NM_006363.6(SEC23B):c.1234-14_1234-13del rs765849514
NM_006363.6(SEC23B):c.1234-16C>A
NM_006363.6(SEC23B):c.1234-18G>A
NM_006363.6(SEC23B):c.1234-20C>T
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
NM_006363.6(SEC23B):c.1287T>C (p.Asn429=)
NM_006363.6(SEC23B):c.1314+12A>T
NM_006363.6(SEC23B):c.1314+16C>T
NM_006363.6(SEC23B):c.1314+18A>G
NM_006363.6(SEC23B):c.1315-16C>T
NM_006363.6(SEC23B):c.1315-4C>G
NM_006363.6(SEC23B):c.1315-5C>T
NM_006363.6(SEC23B):c.1315-6C>T
NM_006363.6(SEC23B):c.1315-7C>T
NM_006363.6(SEC23B):c.1315-8A>G
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
NM_006363.6(SEC23B):c.1404+17C>T
NM_006363.6(SEC23B):c.1404+20A>G
NM_006363.6(SEC23B):c.1405-15C>T
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=) rs748683808
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
NM_006363.6(SEC23B):c.1511+18C>T
NM_006363.6(SEC23B):c.1511+21_1511+24del
NM_006363.6(SEC23B):c.1512-11G>A
NM_006363.6(SEC23B):c.1512-19C>A
NM_006363.6(SEC23B):c.1512-5G>A
NM_006363.6(SEC23B):c.1512-7T>C
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=) rs138623580
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
NM_006363.6(SEC23B):c.1665+14A>G
NM_006363.6(SEC23B):c.1665+17G>A
NM_006363.6(SEC23B):c.1665+20A>T
NM_006363.6(SEC23B):c.1665+8G>A
NM_006363.6(SEC23B):c.1666-16T>G
NM_006363.6(SEC23B):c.1671A>G (p.Gln557=)
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
NM_006363.6(SEC23B):c.168T>C (p.Tyr56=)
NM_006363.6(SEC23B):c.1701C>T (p.Pro567=)
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
NM_006363.6(SEC23B):c.1743+20A>G
NM_006363.6(SEC23B):c.1744-10G>C
NM_006363.6(SEC23B):c.1744-14del
NM_006363.6(SEC23B):c.1744-16T>C
NM_006363.6(SEC23B):c.1744-18C>T
NM_006363.6(SEC23B):c.1744-8G>A
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
NM_006363.6(SEC23B):c.1767T>G (p.Ser589=)
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
NM_006363.6(SEC23B):c.1824T>C (p.His608=)
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
NM_006363.6(SEC23B):c.1905+10dup
NM_006363.6(SEC23B):c.1905+12C>T
NM_006363.6(SEC23B):c.1905+16A>G
NM_006363.6(SEC23B):c.1905+8T>C
NM_006363.6(SEC23B):c.1905+8T>G
NM_006363.6(SEC23B):c.1905+9C>A
NM_006363.6(SEC23B):c.1906-11T>C
NM_006363.6(SEC23B):c.1906-12_1906-9del
NM_006363.6(SEC23B):c.1906-18C>G
NM_006363.6(SEC23B):c.1906-18C>T
NM_006363.6(SEC23B):c.1906-18_1906-14del
NM_006363.6(SEC23B):c.1906-19TC[2]
NM_006363.6(SEC23B):c.1906-19TC[3]
NM_006363.6(SEC23B):c.1906-7T>C
NM_006363.6(SEC23B):c.1906-8_1906-7del
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
NM_006363.6(SEC23B):c.1953G>A (p.Leu651=)
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
NM_006363.6(SEC23B):c.1992+14ATTA[2]
NM_006363.6(SEC23B):c.1992+15_1992+17del
NM_006363.6(SEC23B):c.1992+17A>G
NM_006363.6(SEC23B):c.1992+8G>A
NM_006363.6(SEC23B):c.1992+8_1992+10del
NM_006363.6(SEC23B):c.1993-18T>C
NM_006363.6(SEC23B):c.1993-20G>A
NM_006363.6(SEC23B):c.1993-6G>C
NM_006363.6(SEC23B):c.1993-7T>C
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
NM_006363.6(SEC23B):c.2121C>T (p.Tyr707=)
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
NM_006363.6(SEC23B):c.2148+10C>T
NM_006363.6(SEC23B):c.2148+16_2148+17insAGAGT
NM_006363.6(SEC23B):c.2148+17C>G
NM_006363.6(SEC23B):c.2148+7G>A
NM_006363.6(SEC23B):c.2149-12T>C
NM_006363.6(SEC23B):c.2149-13G>C
NM_006363.6(SEC23B):c.2149-19G>T
NM_006363.6(SEC23B):c.2149-21TTG[4] rs746737770
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=) rs1600281875
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
NM_006363.6(SEC23B):c.221+10C>G
NM_006363.6(SEC23B):c.221+163A>G
NM_006363.6(SEC23B):c.221+31A>T
NM_006363.6(SEC23B):c.2214+10C>A
NM_006363.6(SEC23B):c.2214+13_2214+14del
NM_006363.6(SEC23B):c.2214+14del
NM_006363.6(SEC23B):c.2214+15G>A
NM_006363.6(SEC23B):c.2214+15G>T
NM_006363.6(SEC23B):c.2215-18T>C
NM_006363.6(SEC23B):c.2215-19C>T
NM_006363.6(SEC23B):c.2215-9A>G
NM_006363.6(SEC23B):c.222-15T>A
NM_006363.6(SEC23B):c.222-17_222-15del
NM_006363.6(SEC23B):c.222-19_222-17del
NM_006363.6(SEC23B):c.222-4A>G
NM_006363.6(SEC23B):c.222-7C>G
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
NM_006363.6(SEC23B):c.279+13T>A
NM_006363.6(SEC23B):c.279+17T>A
NM_006363.6(SEC23B):c.280-10T>C
NM_006363.6(SEC23B):c.280-11C>T
NM_006363.6(SEC23B):c.280-12C>G
NM_006363.6(SEC23B):c.280-12C>T
NM_006363.6(SEC23B):c.280-13T>G
NM_006363.6(SEC23B):c.280-20_280-14del
NM_006363.6(SEC23B):c.280-8_280-6del
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
NM_006363.6(SEC23B):c.354G>A (p.Glu118=)
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
NM_006363.6(SEC23B):c.366+11T>C
NM_006363.6(SEC23B):c.366+13T>A
NM_006363.6(SEC23B):c.366+15G>C
NM_006363.6(SEC23B):c.366+17G>A
NM_006363.6(SEC23B):c.366+18C>T
NM_006363.6(SEC23B):c.367-8G>C
NM_006363.6(SEC23B):c.369A>T (p.Arg123=)
NM_006363.6(SEC23B):c.375T>C (p.Ala125=)
NM_006363.6(SEC23B):c.408C>T (p.Asp136=)
NM_006363.6(SEC23B):c.414C>T (p.Cys138=)
NM_006363.6(SEC23B):c.438A>C (p.Ala146=)
NM_006363.6(SEC23B):c.438A>G (p.Ala146=)
NM_006363.6(SEC23B):c.450C>T (p.Ser150=)
NM_006363.6(SEC23B):c.480A>T (p.Pro160=)
NM_006363.6(SEC23B):c.489G>A (p.Leu163=)
NM_006363.6(SEC23B):c.489G>C (p.Leu163=)
NM_006363.6(SEC23B):c.489G>T (p.Leu163=)
NM_006363.6(SEC23B):c.528T>C (p.His176=)
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
NM_006363.6(SEC23B):c.546A>T (p.Gly182=) rs1347919581
NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
NM_006363.6(SEC23B):c.564C>A (p.Val188=)
NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
NM_006363.6(SEC23B):c.603+10T>C
NM_006363.6(SEC23B):c.603+12A>G
NM_006363.6(SEC23B):c.603+18A>G
NM_006363.6(SEC23B):c.604-10T>G
NM_006363.6(SEC23B):c.604-11_604-10insC
NM_006363.6(SEC23B):c.604-19T>G
NM_006363.6(SEC23B):c.604-20T>C
NM_006363.6(SEC23B):c.604-4T>A
NM_006363.6(SEC23B):c.604-6T>C
NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
NM_006363.6(SEC23B):c.689+13C>T
NM_006363.6(SEC23B):c.689+14A>T
NM_006363.6(SEC23B):c.689+19G>T
NM_006363.6(SEC23B):c.689+7G>T
NM_006363.6(SEC23B):c.689+8C>T
NM_006363.6(SEC23B):c.689+9C>A
NM_006363.6(SEC23B):c.690-17C>T
NM_006363.6(SEC23B):c.690-4_690-3dup
NM_006363.6(SEC23B):c.690-6T>C
NM_006363.6(SEC23B):c.690-7C>G
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
NM_006363.6(SEC23B):c.708C>T (p.His236=)
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
NM_006363.6(SEC23B):c.834+14T>C rs2148899499
NM_006363.6(SEC23B):c.834+17C>G
NM_006363.6(SEC23B):c.834+17C>T
NM_006363.6(SEC23B):c.835-10G>A
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
NM_006363.6(SEC23B):c.85C>T (p.Leu29=) rs886056525
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
NM_006363.6(SEC23B):c.963T>C (p.Asp321=)
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser) rs143417821
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
NM_006363.6(SEC23B):c.993+11T>C
NM_006363.6(SEC23B):c.993+14G>A
NM_006363.6(SEC23B):c.993+14G>T
NM_006363.6(SEC23B):c.993+15G>C
NM_006363.6(SEC23B):c.993+8C>G
NM_006363.6(SEC23B):c.993+8C>T
NM_006363.6(SEC23B):c.994-10C>G
NM_006363.6(SEC23B):c.994-12C>T
NM_006363.6(SEC23B):c.994-13C>G
NM_006363.6(SEC23B):c.994-189T>A
NM_006363.6(SEC23B):c.994-189T>C
NM_006363.6(SEC23B):c.994-19A>G
NM_006363.6(SEC23B):c.994-20T>A
NM_006363.6(SEC23B):c.994-5C>T
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)

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