ClinVar Miner

List of variants reported as likely benign for Methylmalonic acidemia with homocystinuria, type cblX

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ClinVar version:
Total variants: 726
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00099
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00090
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00073
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801 0.00034
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496 0.00031
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247 0.00030
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181 0.00028
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428 0.00028
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673 0.00023
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693 0.00023
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=) rs782189273 0.00020
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00019
NM_005334.3(HCFC1):c.4942+8C>T rs1013019333 0.00018
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135 0.00017
NM_005334.3(HCFC1):c.1605+16T>G rs375698764 0.00014
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332 0.00014
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=) rs372258214 0.00014
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624 0.00012
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=) rs182541172 0.00011
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) rs1273500868 0.00011
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757 0.00011
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=) rs373900604 0.00010
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 0.00010
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu) rs781948229 0.00010
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968 0.00009
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala) rs782762959 0.00008
NM_005334.3(HCFC1):c.712+11T>A rs200788917 0.00008
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) rs781840891 0.00007
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met) rs373753660 0.00007
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446 0.00007
NM_005334.3(HCFC1):c.1084+8C>T rs367698803 0.00006
NM_005334.3(HCFC1):c.1803+7G>A rs782241441 0.00006
NM_005334.3(HCFC1):c.4498-6C>T rs781878683 0.00006
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=) rs1172151130 0.00006
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu) rs376640734 0.00006
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752 0.00006
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=) rs781839670 0.00005
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys) rs782777285 0.00005
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) rs782017804 0.00005
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg) rs782252923 0.00005
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) rs782670703 0.00005
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=) rs782207879 0.00005
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=) rs1203879125 0.00005
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=) rs1219082215 0.00005
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=) rs1040805219 0.00005
NM_005334.3(HCFC1):c.6068+15C>G rs1191627045 0.00005
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=) rs781810369 0.00004
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=) rs114030669 0.00004
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met) rs782244386 0.00004
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) rs1459988694 0.00004
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=) rs782200164 0.00004
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser) rs781830478 0.00004
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00004
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=) rs1353771267 0.00004
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) rs782820533 0.00004
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) rs782407440 0.00004
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=) rs782719384 0.00004
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln) rs782729346 0.00004
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=) rs923295564 0.00004
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) rs1422949741 0.00004
NM_005334.3(HCFC1):c.5260+7G>A rs781815064 0.00004
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) rs1342469676 0.00004
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=) rs1230370463 0.00004
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511 0.00004
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045 0.00003
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr) rs782220105 0.00003
NM_005334.3(HCFC1):c.1444+18G>A rs782651337 0.00003
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr) rs782470816 0.00003
NM_005334.3(HCFC1):c.1606-15C>T rs782338068 0.00003
NM_005334.3(HCFC1):c.1606-16C>T rs782394122 0.00003
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=) rs782036588 0.00003
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=) rs201614319 0.00003
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=) rs1260817252 0.00003
NM_005334.3(HCFC1):c.219C>T (p.Ala73=) rs201762685 0.00003
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=) rs782061513 0.00003
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) rs782481466 0.00003
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=) rs1472414839 0.00003
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400 0.00003
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser) rs782344030 0.00003
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg) rs782056051 0.00003
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695 0.00003
NM_005334.3(HCFC1):c.345G>A (p.Ala115=) rs782708822 0.00003
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=) rs374615593 0.00003
NM_005334.3(HCFC1):c.381G>A (p.Thr127=) rs782814235 0.00003
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724 0.00003
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=) rs1417960741 0.00003
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604 0.00003
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287 0.00003
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met) rs782502571 0.00003
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys) rs1557113324 0.00003
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635 0.00003
NM_005334.3(HCFC1):c.504-9C>T rs781961920 0.00003
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=) rs372903122 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005334.3(HCFC1):c.5260+17G>A rs201426831 0.00003
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu) rs1423724727 0.00003
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=) rs1557112253 0.00003
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=) rs781929046 0.00003
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=) rs369626014 0.00003
NM_005334.3(HCFC1):c.627C>T (p.Thr209=) rs376699929 0.00003
NM_005334.3(HCFC1):c.748G>A (p.Val250Met) rs782385961 0.00003
NM_005334.3(HCFC1):c.797+20C>T rs1202325261 0.00003
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser) rs1557116069 0.00002
NM_005334.3(HCFC1):c.1605+18G>A rs1557116027 0.00002
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=) rs1012734705 0.00002
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) rs782472950 0.00002
NM_005334.3(HCFC1):c.189C>T (p.Asn63=) rs368273231 0.00002
NM_005334.3(HCFC1):c.193+15C>T rs782440750 0.00002
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=) rs1250812048 0.00002
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=) rs370251100 0.00002
NM_005334.3(HCFC1):c.2029-12C>T rs1418355155 0.00002
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=) rs2065388697 0.00002
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=) rs201977456 0.00002
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=) rs782276292 0.00002
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=) rs782517377 0.00002
NM_005334.3(HCFC1):c.2353+15C>T rs781805485 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2496+17C>T rs1557115185 0.00002
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223 0.00002
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile) rs375812900 0.00002
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=) rs1313498603 0.00002
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=) rs1189976359 0.00002
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=) rs1436495630 0.00002
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) rs1557114580 0.00002
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) rs782014460 0.00002
NM_005334.3(HCFC1):c.343-7T>G rs782489584 0.00002
NM_005334.3(HCFC1):c.343-8T>C rs1557117804 0.00002
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly) rs868914963 0.00002
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg) rs1429715782 0.00002
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=) rs1375072220 0.00002
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) rs373289538 0.00002
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=) rs782319089 0.00002
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=) rs1204707145 0.00002
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe) rs782569675 0.00002
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr) rs781897694 0.00002
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=) rs781954028 0.00002
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val) rs782239008 0.00002
NM_005334.3(HCFC1):c.4333+9A>G rs1557113476 0.00002
NM_005334.3(HCFC1):c.4334-20C>A rs2065340207 0.00002
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn) rs1557113373 0.00002
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=) rs782395790 0.00002
NM_005334.3(HCFC1):c.4497+18C>T rs374478922 0.00002
NM_005334.3(HCFC1):c.4497+19G>A rs377461547 0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935 0.00002
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=) rs782206606 0.00002
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=) rs1557112897 0.00002
NM_005334.3(HCFC1):c.4943-14C>T rs782013279 0.00002
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=) rs2065319243 0.00002
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=) rs1319847117 0.00002
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val) rs782514310 0.00002
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His) rs372299853 0.00002
NM_005334.3(HCFC1):c.5380-15G>A rs782685603 0.00002
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=) rs1304782715 0.00002
NM_005334.3(HCFC1):c.5481C>T (p.His1827=) rs1357727842 0.00002
NM_005334.3(HCFC1):c.5517+16T>A rs782354980 0.00002
NM_005334.3(HCFC1):c.5518-18C>T rs1557112303 0.00002
NM_005334.3(HCFC1):c.5704-11C>G rs1557112189 0.00002
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=) rs1557112185 0.00002
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu) rs782027639 0.00002
NM_005334.3(HCFC1):c.588A>G (p.Leu196=) rs1027008091 0.00002
NM_005334.3(HCFC1):c.753G>A (p.Ala251=) rs1557117195 0.00002
NM_005334.3(HCFC1):c.904+20C>T rs1260432532 0.00002
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=) rs782479454 0.00001
NM_005334.3(HCFC1):c.1084+20C>T rs781877231 0.00001
NM_005334.3(HCFC1):c.1084+9G>A rs1557116426 0.00001
NM_005334.3(HCFC1):c.1085-15T>C rs782302951 0.00001
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=) rs1557116370 0.00001
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=) rs2065414665 0.00001
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=) rs371111630 0.00001
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=) rs1360389542 0.00001
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=) rs1557116296 0.00001
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=) rs1247471290 0.00001
NM_005334.3(HCFC1):c.138G>C (p.Val46=) rs782634164 0.00001
NM_005334.3(HCFC1):c.1422G>A (p.Val474=) rs1557116229 0.00001
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=) rs782186278 0.00001
NM_005334.3(HCFC1):c.1445-7T>C rs2521651735 0.00001
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=) rs1557116076 0.00001
NM_005334.3(HCFC1):c.1606-14C>T rs1557115912 0.00001
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=) rs782316614 0.00001
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=) rs1557115887 0.00001
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) rs1557115850 0.00001
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala) rs997841591 0.00001
NM_005334.3(HCFC1):c.177G>A (p.Leu59=) rs995685663 0.00001
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=) rs1557115819 0.00001
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala) rs1557115716 0.00001
NM_005334.3(HCFC1):c.193+16G>T rs781810012 0.00001
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=) rs2065395318 0.00001
NM_005334.3(HCFC1):c.2029-17C>T rs1184396495 0.00001
NM_005334.3(HCFC1):c.2133+11dup rs782157171 0.00001
NM_005334.3(HCFC1):c.2134-18C>T rs2521617250 0.00001
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=) rs1322440288 0.00001
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422 0.00001
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=) rs994161977 0.00001
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=) rs782368854 0.00001
NM_005334.3(HCFC1):c.2354-20G>A rs1258720649 0.00001
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=) rs2521604059 0.00001
NM_005334.3(HCFC1):c.2475C>T (p.His825=) rs782533163 0.00001
NM_005334.3(HCFC1):c.2496+12C>T rs1257428082 0.00001
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=) rs1369895218 0.00001
NM_005334.3(HCFC1):c.2635+10C>T rs1603296190 0.00001
NM_005334.3(HCFC1):c.2636-16G>T rs782607911 0.00001
NM_005334.3(HCFC1):c.2636-18T>A rs896880707 0.00001
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163 0.00001
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp) rs1315563550 0.00001
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=) rs1206431800 0.00001
NM_005334.3(HCFC1):c.2856+17G>A rs1371543874 0.00001
NM_005334.3(HCFC1):c.2857-18C>T rs2521573444 0.00001
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met) rs782075466 0.00001
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser) rs782636507 0.00001
NM_005334.3(HCFC1):c.306G>A (p.Glu102=) rs1242900258 0.00001
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=) rs1430124891 0.00001
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=) rs1216876345 0.00001
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) rs944235194 0.00001
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=) rs782250826 0.00001
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val) rs1557114335 0.00001
NM_005334.3(HCFC1):c.3336C>T (p.His1112=) rs1188350871 0.00001
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu) rs1557114267 0.00001
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=) rs960541644 0.00001
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=) rs1569546750 0.00001
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser) rs782605753 0.00001
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=) rs782522290 0.00001
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=) rs1557114223 0.00001
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) rs1053320929 0.00001
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys) rs781985655 0.00001
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=) rs782676033 0.00001
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) rs1204221011 0.00001
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=) rs781962113 0.00001
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val) rs782568877 0.00001
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=) rs782064880 0.00001
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=) rs1258653943 0.00001
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg) rs781875988 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=) rs782339413 0.00001
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys) rs1569546724 0.00001
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=) rs782570428 0.00001
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile) rs1251147545 0.00001
NM_005334.3(HCFC1):c.402G>A (p.Pro134=) rs2065455383 0.00001
NM_005334.3(HCFC1):c.411A>G (p.Arg137=) rs1230771666 0.00001
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=) rs946537625 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=) rs782136932 0.00001
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=) rs782223627 0.00001
NM_005334.3(HCFC1):c.426C>T (p.Phe142=) rs942700790 0.00001
NM_005334.3(HCFC1):c.4333+11G>T rs1557113474 0.00001
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC rs1557113402 0.00001
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=) rs1557113368 0.00001
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=) rs1226469228 0.00001
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=) rs1194317985 0.00001
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=) rs1485463269 0.00001
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=) rs1030627840 0.00001
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=) rs782070583 0.00001
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=) rs782298236 0.00001
NM_005334.3(HCFC1):c.465G>A (p.Leu155=) rs2065454757 0.00001
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=) rs782819738 0.00001
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) rs1272514582 0.00001
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=) rs2065324435 0.00001
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=) rs1324475427 0.00001
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=) rs368086196 0.00001
NM_005334.3(HCFC1):c.4942+17C>T rs1263416322 0.00001
NM_005334.3(HCFC1):c.4942+9C>T rs782480118 0.00001
NM_005334.3(HCFC1):c.4943-18C>T rs1259872841 0.00001
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu) rs782660830 0.00001
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=) rs2065319059 0.00001
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=) rs1392892295 0.00001
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) rs782467999 0.00001
NM_005334.3(HCFC1):c.504-5G>A rs1362015008 0.00001
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=) rs782118157 0.00001
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=) rs2521477619 0.00001
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=) rs782289112 0.00001
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His) rs1334140995 0.00001
NM_005334.3(HCFC1):c.5261-15C>T rs2065313751 0.00001
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val) rs1422594028 0.00001
NM_005334.3(HCFC1):c.526C>T (p.Leu176=) rs1557117512 0.00001
NM_005334.3(HCFC1):c.5379+7C>T rs782468397 0.00001
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=) rs781844390 0.00001
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu) rs1466664115 0.00001
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=) rs782806233 0.00001
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=) rs2065304436 0.00001
NM_005334.3(HCFC1):c.5703+14T>G rs1487399140 0.00001
NM_005334.3(HCFC1):c.5703+19T>C rs782165040 0.00001
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805 0.00001
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=) rs2065298662 0.00001
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=) rs1557112093 0.00001
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=) rs782531757 0.00001
NM_005334.3(HCFC1):c.6004+13C>T rs782175717 0.00001
NM_005334.3(HCFC1):c.6004+16G>A rs1557112037 0.00001
NM_005334.3(HCFC1):c.6005-16C>T rs782789521 0.00001
NM_005334.3(HCFC1):c.6068+11A>G rs782581063 0.00001
NM_005334.3(HCFC1):c.6068+14C>T rs1490849603 0.00001
NM_005334.3(HCFC1):c.6069-16T>C rs1184614214 0.00001
NM_005334.3(HCFC1):c.615C>T (p.Ala205=) rs369123498 0.00001
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=) rs1242952055 0.00001
NM_005334.3(HCFC1):c.648C>G (p.Ser216=) rs1557117476 0.00001
NM_005334.3(HCFC1):c.684G>A (p.Arg228=) rs781873669 0.00001
NM_005334.3(HCFC1):c.735C>G (p.Pro245=) rs1038614708 0.00001
NM_005334.3(HCFC1):c.744C>T (p.Ser248=) rs781816218 0.00001
NM_005334.3(HCFC1):c.797+9C>G rs1557117174 0.00001
NM_005334.3(HCFC1):c.798-9C>T rs1300907537 0.00001
NM_005334.3(HCFC1):c.904+10C>T rs1557116924 0.00001
NM_005334.3(HCFC1):c.904+13C>T rs781879407 0.00001
NM_005334.3(HCFC1):c.905-9C>T rs782717159 0.00001
NM_005334.3(HCFC1):c.939A>G (p.Thr313=) rs782309363 0.00001
NM_005334.3(HCFC1):c.942G>A (p.Leu314=) rs782195251 0.00001
NM_005334.3(HCFC1):c.948C>T (p.Asp316=) rs1219701798 0.00001
NM_005334.3(HCFC1):c.99C>T (p.Arg33=) rs372912123 0.00001
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=) rs1261027235
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=) rs1557116449
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=) rs2148589412
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=) rs2521668617
NM_005334.3(HCFC1):c.1059C>T (p.Cys353=)
NM_005334.3(HCFC1):c.1084+18G>A rs782811477
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.1084+7C>A rs2521667971
NM_005334.3(HCFC1):c.1085-12G>C rs3027893
NM_005334.3(HCFC1):c.1085-12G>T rs3027893
NM_005334.3(HCFC1):c.1085-13C>T
NM_005334.3(HCFC1):c.1085-17A>G rs1557116392
NM_005334.3(HCFC1):c.1085-20C>T rs2521666374
NM_005334.3(HCFC1):c.1085-6C>T rs2065415731
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=) rs2521665220
NM_005334.3(HCFC1):c.111C>A (p.Arg37=) rs2521819286
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=) rs781840891
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=) rs2521664608
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=) rs782754316
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=) rs2521663899
NM_005334.3(HCFC1):c.120C>T (p.Ala40=)
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=) rs2521663513
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu) rs781983047
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) rs1557116313
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=) rs782397385
NM_005334.3(HCFC1):c.129G>A (p.Glu43=) rs2521819158
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=) rs2148588304
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=) rs2521660610
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=) rs200268397
NM_005334.3(HCFC1):c.1444+10G>A rs1557116212
NM_005334.3(HCFC1):c.1444+14C>T rs2521658484
NM_005334.3(HCFC1):c.1445-11T>C rs2521651868
NM_005334.3(HCFC1):c.1445-17G>T rs2521652098
NM_005334.3(HCFC1):c.1445-20C>G rs2521652146
NM_005334.3(HCFC1):c.1445-8C>G rs1557116111
NM_005334.3(HCFC1):c.1445-8C>T rs1557116111
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=) rs2065409000
NM_005334.3(HCFC1):c.153C>T (p.Gly51=) rs2521818469
NM_005334.3(HCFC1):c.1548G>A (p.Val516=)
NM_005334.3(HCFC1):c.156C>T (p.Asn52=)
NM_005334.3(HCFC1):c.1605+11G>A rs2148586621
NM_005334.3(HCFC1):c.1605+11G>T rs2148586621
NM_005334.3(HCFC1):c.1606-11G>T rs2521640216
NM_005334.3(HCFC1):c.1606-17G>A rs781993325
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=) rs1557115901
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=) rs1012734705
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=) rs2065401446
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=) rs2148584844
NM_005334.3(HCFC1):c.171C>T (p.Asp57=) rs2065523768
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=) rs2521636999
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=) rs2148584612
NM_005334.3(HCFC1):c.1803+13del rs781803376
NM_005334.3(HCFC1):c.1803+15G>A rs2521636113
NM_005334.3(HCFC1):c.1804-14T>C rs2521630563
NM_005334.3(HCFC1):c.1804-7C>T rs1557115724
NM_005334.3(HCFC1):c.1804-9C>G rs2521630493
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=) rs2065396257
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=) rs2521628878
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=) rs2521628765
NM_005334.3(HCFC1):c.193+12G>A rs2521817502
NM_005334.3(HCFC1):c.193+15dup rs782363168
NM_005334.3(HCFC1):c.193+7G>A rs782747473
NM_005334.3(HCFC1):c.194-19G>C rs1557117921
NM_005334.3(HCFC1):c.194-19G>T
NM_005334.3(HCFC1):c.194-20T>C rs2521734400
NM_005334.3(HCFC1):c.1947G>T (p.Val649=) rs2521628200
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=) rs1557115695
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=) rs2065395675
NM_005334.3(HCFC1):c.2028+17G>A rs1557115663
NM_005334.3(HCFC1):c.2029-12del rs1428531079
NM_005334.3(HCFC1):c.2029-14C>T rs977269889
NM_005334.3(HCFC1):c.2029-18C>T rs2521624155
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=) rs2521622220
NM_005334.3(HCFC1):c.2133+10C>T rs2521622078
NM_005334.3(HCFC1):c.2133+20A>C rs2521621916
NM_005334.3(HCFC1):c.2133+7T>C
NM_005334.3(HCFC1):c.2134-14C>T rs1557115459
NM_005334.3(HCFC1):c.2134-20C>T rs368718262
NM_005334.3(HCFC1):c.2134-9C>T rs2521617043
NM_005334.3(HCFC1):c.2145C>T (p.Pro715=)
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=) rs1557115447
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro) rs782140613
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=) rs922441803
NM_005334.3(HCFC1):c.21C>T (p.Pro7=) rs1557119928
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=) rs2521615234
NM_005334.3(HCFC1):c.225G>A (p.Arg75=)
NM_005334.3(HCFC1):c.228G>C (p.Gly76=) rs2521733765
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=) rs2521614216
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=) rs994161977
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=) rs1394418679
NM_005334.3(HCFC1):c.2353+16G>A rs782789236
NM_005334.3(HCFC1):c.2353+19A>G rs894553635
NM_005334.3(HCFC1):c.2353+20T>C rs375241541
NM_005334.3(HCFC1):c.2354-10_2354-9del rs2521606091
NM_005334.3(HCFC1):c.2354-14A>G rs1557115234
NM_005334.3(HCFC1):c.2354-15C>T rs2065383953
NM_005334.3(HCFC1):c.2354-16C>G rs2521606263
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=) rs1557115218
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=) rs2521604703
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=) rs2521604124
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=) rs2521603931
NM_005334.3(HCFC1):c.2496+14A>G rs1426040631
NM_005334.3(HCFC1):c.2496+20C>G rs2521603385
NM_005334.3(HCFC1):c.2496+7C>T rs2521603845
NM_005334.3(HCFC1):c.2497-16T>C rs2521600222
NM_005334.3(HCFC1):c.2497-17_2497-16del rs2521600284
NM_005334.3(HCFC1):c.2535C>T (p.Ile845=)
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=) rs1296318603
NM_005334.3(HCFC1):c.2547G>T (p.Val849=) rs1557115121
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=) rs1569546795
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=) rs2521733364
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=) rs1369895218
NM_005334.3(HCFC1):c.2586C>T (p.Val862=) rs1557115093
NM_005334.3(HCFC1):c.258C>T (p.Gly86=) rs2065458941
NM_005334.3(HCFC1):c.2607C>A (p.Val869=) rs2521597528
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=) rs1557115062
NM_005334.3(HCFC1):c.2635+12T>A rs2521596601
NM_005334.3(HCFC1):c.2635+15G>A rs2065379663
NM_005334.3(HCFC1):c.2635+9C>T rs1557115056
NM_005334.3(HCFC1):c.2636-10T>A rs2521591548
NM_005334.3(HCFC1):c.2636-14C>T rs1557114976
NM_005334.3(HCFC1):c.2636-15C>A rs2521591691
NM_005334.3(HCFC1):c.2636-16G>C
NM_005334.3(HCFC1):c.2636-6C>T
NM_005334.3(HCFC1):c.2636-7C>G
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=) rs2521591251
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=) rs782558280
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=) rs782082419
NM_005334.3(HCFC1):c.2700C>T (p.His900=) rs2521590083
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=) rs2521589506
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=) rs782019241
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=) rs1464909780
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=) rs1557114916
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=) rs2521588922
NM_005334.3(HCFC1):c.2766G>A (p.Gln922=)
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=) rs2521587714
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2856+15G>A rs1286532435
NM_005334.3(HCFC1):c.2856+8A>G rs2521586571
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA rs782054748
NM_005334.3(HCFC1):c.2857-20C>T rs2148575650
NM_005334.3(HCFC1):c.2857-23CTC[2] rs886044899
NM_005334.3(HCFC1):c.2857-8C>T rs1557114652
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=) rs1436495630
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=) rs2521571666
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=) rs1557114605
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=) rs2521570472
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=) rs2521570276
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=) rs2521569999
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=) rs2521569645
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3090C>T (p.Thr1030=)
NM_005334.3(HCFC1):c.3120C>T (p.His1040=)
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg) rs1557114467
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=) rs2521564416
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=) rs1321560567
NM_005334.3(HCFC1):c.3210C>T (p.Ser1070=)
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=) rs1273443635
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln) rs1557114425
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu) rs1557114419
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=) rs2521562290
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=) rs2521560765
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=) rs2521559388
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=) rs2521558295
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=) rs2521557940
NM_005334.3(HCFC1):c.342+9G>A rs781920392
NM_005334.3(HCFC1):c.343-10G>A rs2521727332
NM_005334.3(HCFC1):c.3453G>A (p.Val1151=)
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=) rs2521554733
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr) rs1051152
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=) rs1557114145
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=) rs1569546745
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=) rs781849269
NM_005334.3(HCFC1):c.357G>A (p.Glu119=) rs2521726834
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=) rs1557114103
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=) rs782167598
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=) rs782167598
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys) rs782017860
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) rs1557114069
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=) rs1399152963
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=) rs2521549102
NM_005334.3(HCFC1):c.3699C>T (p.His1233=)
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=) rs182248392
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=) rs182248392
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=) rs1557114015
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly) rs782749607
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val) rs782749607
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=) rs2521546469
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=) rs2521546163
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=) rs2521545895
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu) rs374683078
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=) rs2521545224
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=) rs2521545059
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=) rs2521544905
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=) rs2065352401
NM_005334.3(HCFC1):c.3837G>A (p.Leu1279=)
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp) rs781825982
NM_005334.3(HCFC1):c.3888C>G (p.Thr1296=)
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=) rs1355922029
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile) rs370408679
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=) rs782520105
NM_005334.3(HCFC1):c.3945G>A (p.Arg1315=)
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=) rs2521537144
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=) rs2521536338
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=) rs782319089
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=) rs2521535915
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=) rs2065347116
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala) rs1557113614
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe) rs1557113603
NM_005334.3(HCFC1):c.414C>G (p.Leu138=) rs1302434138
NM_005334.3(HCFC1):c.414C>T (p.Leu138=) rs1302434138
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=) rs2521533738
NM_005334.3(HCFC1):c.417G>A (p.Gly139=) rs2521726165
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=) rs2521533016
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=) rs1332185939
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=) rs782223627
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=) rs2521531712
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=) rs2521531428
NM_005334.3(HCFC1):c.4233C>T (p.Phe1411=)
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=) rs782480971
NM_005334.3(HCFC1):c.423C>T (p.Ser141=) rs782129220
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=) rs782566624
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=) rs2521529657
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=) rs782051111
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=) rs782052682
NM_005334.3(HCFC1):c.4293C>T (p.His1431=) rs2065343687
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=) rs782433810
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=) rs2148568710
NM_005334.3(HCFC1):c.432T>C (p.Leu144=) rs1557117767
NM_005334.3(HCFC1):c.4333+16C>T
NM_005334.3(HCFC1):c.4334-11C>G rs200968392
NM_005334.3(HCFC1):c.4334-13G>A rs2521522771
NM_005334.3(HCFC1):c.4334-15C>T rs1557113405
NM_005334.3(HCFC1):c.4334-16C>T rs782700236
NM_005334.3(HCFC1):c.4334-18_4334-8dup rs2521522466
NM_005334.3(HCFC1):c.435G>C (p.Val145=) rs2521725813
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=) rs2521521057
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=) rs1557113341
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=) rs781954703
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=) rs782395790
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=) rs1194317985
NM_005334.3(HCFC1):c.4497+16G>A rs782636018
NM_005334.3(HCFC1):c.4497+16G>T rs782636018
NM_005334.3(HCFC1):c.4497+9C>T rs2521517934
NM_005334.3(HCFC1):c.4498-12G>T rs1557113105
NM_005334.3(HCFC1):c.4498-20C>T rs782368885
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=) rs2521503902
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=) rs1381438516
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=) rs1381438516
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=) rs1381438516
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=) rs2521503319
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=) rs2148564424
NM_005334.3(HCFC1):c.453G>C (p.Leu151=) rs2065454926
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=) rs1051153
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=) rs2065328379
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=) rs2521500831
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=) rs782758331
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=) rs782155042
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=) rs782155042
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met) rs781955447
NM_005334.3(HCFC1):c.463C>T (p.Leu155=) rs2065454798
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=) rs2065326350
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=) rs2521498756
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=) rs1053862024
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=) rs2521498010
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=) rs201491654
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=) rs2521497600
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=) rs1474182986
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=) rs782276350
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=) rs2521496263
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=) rs1557112919
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=) rs782697777
NM_005334.3(HCFC1):c.4942+17C>A rs1263416322
NM_005334.3(HCFC1):c.4942+20T>C rs2521493719
NM_005334.3(HCFC1):c.4942+20T>G rs2521493719
NM_005334.3(HCFC1):c.4942+7G>A rs1557112887
NM_005334.3(HCFC1):c.4943-11C>A rs375388306
NM_005334.3(HCFC1):c.4943-16C>T rs1467118547
NM_005334.3(HCFC1):c.4943-18C>A rs1259872841
NM_005334.3(HCFC1):c.4943-20T>C rs2065319718
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=) rs2521483937
NM_005334.3(HCFC1):c.4968C>T (p.Ser1656=)
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=) rs2521483226
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=) rs2521482208
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=) rs781976883
NM_005334.3(HCFC1):c.503+10G>A rs1196499770
NM_005334.3(HCFC1):c.503+18T>C
NM_005334.3(HCFC1):c.503+8T>G rs1557117744
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala) rs782694351
NM_005334.3(HCFC1):c.504-13C>A rs954239610
NM_005334.3(HCFC1):c.504-16G>C rs2521714709
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=) rs2521481102
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=) rs2521481102
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=) rs2148561246
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=) rs2521480276
NM_005334.3(HCFC1):c.5130C>T (p.His1710=) rs1166131635
NM_005334.3(HCFC1):c.513T>C (p.Asn171=) rs2521714275
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=) rs1557112681
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=) rs1557112674
NM_005334.3(HCFC1):c.5175C>T (p.Asp1725=)
NM_005334.3(HCFC1):c.5190C>T (p.Ser1730=)
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=) rs2521477268
NM_005334.3(HCFC1):c.5211C>T (p.Ala1737=)
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=) rs1285115874
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=) rs2521476233
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=) rs781840949
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=) rs782611570
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=) rs781856398
NM_005334.3(HCFC1):c.5261-12C>T rs781933322
NM_005334.3(HCFC1):c.5261-12_5261-10del rs2521471636
NM_005334.3(HCFC1):c.5261-4C>T rs1557112568
NM_005334.3(HCFC1):c.5261-8C>G rs2065313687
NM_005334.3(HCFC1):c.5261-9_5261-6del rs782761454
NM_005334.3(HCFC1):c.5271A>G (p.Pro1757=)
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=) rs2521470998
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=) rs2521470886
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=) rs2148560027
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=) rs1557112530
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5340C>T (p.Thr1780=)
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=) rs782189273
NM_005334.3(HCFC1):c.5364C>T (p.Ile1788=)
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=) rs1220039024
NM_005334.3(HCFC1):c.5379+10del rs1557112479
NM_005334.3(HCFC1):c.5379+15T>C rs782257941
NM_005334.3(HCFC1):c.5380-13T>C rs782536917
NM_005334.3(HCFC1):c.5380-16C>T rs950000554
NM_005334.3(HCFC1):c.5380-19C>T rs2521465511
NM_005334.3(HCFC1):c.5380-7C>T rs1056017111
NM_005334.3(HCFC1):c.5380-8T>A rs2521465144
NM_005334.3(HCFC1):c.5389C>T (p.Leu1797=)
NM_005334.3(HCFC1):c.5394G>A (p.Pro1798=)
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=) rs201452496
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=) rs1557112418
NM_005334.3(HCFC1):c.543C>T (p.Gly181=) rs782647088
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=) rs2521463403
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=) rs2521463290
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=) rs2521462050
NM_005334.3(HCFC1):c.5517+10C>G rs2521461374
NM_005334.3(HCFC1):c.5518-10C>T rs2521454499
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=) rs781844390
NM_005334.3(HCFC1):c.5535C>A (p.Val1845=)
NM_005334.3(HCFC1):c.5542T>C (p.Tyr1848His)
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=) rs781847001
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=) rs1557112265
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=) rs2521452934
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=) rs2521452452
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=) rs2521452145
NM_005334.3(HCFC1):c.5703+11C>T rs2521451765
NM_005334.3(HCFC1):c.5704-10T>C
NM_005334.3(HCFC1):c.5704-11C>T rs1557112189
NM_005334.3(HCFC1):c.5704-13C>T rs1160650665
NM_005334.3(HCFC1):c.5704-14C>A rs1557112194
NM_005334.3(HCFC1):c.5704-15C>A rs1400937216
NM_005334.3(HCFC1):c.5704-20_5704-18del rs2521446610
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=) rs2521445966
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser) rs781904041
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=) rs2521445799
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=) rs2521445505
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=) rs1374236149
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=) rs782090098
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=) rs2521444652
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=) rs782369645
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=) rs1000069168
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=) rs782320382
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=) rs2521443462
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=) rs2521442592
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=) rs782531757
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=) rs2521442128
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=) rs2521442059
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=) rs2521441765
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=) rs2521441565
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=) rs782029281
NM_005334.3(HCFC1):c.6004+10C>G rs200527887
NM_005334.3(HCFC1):c.6005-11G>A rs781970769
NM_005334.3(HCFC1):c.6005-13C>A rs782114334
NM_005334.3(HCFC1):c.6005-13C>T rs782114334
NM_005334.3(HCFC1):c.6005-5T>A rs2521431318
NM_005334.3(HCFC1):c.6005-6T>C rs2521431355
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=) rs1715955651
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=) rs1557111900
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=) rs1557111893
NM_005334.3(HCFC1):c.6068+13C>G rs2148553916
NM_005334.3(HCFC1):c.6068+19T>C rs2521429755
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=) rs2521426762
NM_005334.3(HCFC1):c.609T>C (p.His203=) rs782114555
NM_005334.3(HCFC1):c.636C>T (p.Asp212=) rs782006497
NM_005334.3(HCFC1):c.648C>T (p.Ser216=) rs1557117476
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=) rs782109002
NM_005334.3(HCFC1):c.666C>T (p.Gly222=) rs1016013435
NM_005334.3(HCFC1):c.69G>A (p.Val23=) rs2065524654
NM_005334.3(HCFC1):c.702C>T (p.Thr234=) rs2521712020
NM_005334.3(HCFC1):c.712+13G>T rs1557117451
NM_005334.3(HCFC1):c.712+9GGT[3] rs1317160150
NM_005334.3(HCFC1):c.713-10C>G
NM_005334.3(HCFC1):c.713-10CT[2] rs1460947857
NM_005334.3(HCFC1):c.713-17C>T rs2521699643
NM_005334.3(HCFC1):c.714C>T (p.Asp238=) rs1557117223
NM_005334.3(HCFC1):c.723G>A (p.Thr241=) rs1449522886
NM_005334.3(HCFC1):c.741C>T (p.Leu247=) rs781938508
NM_005334.3(HCFC1):c.789C>T (p.Ile263=) rs1278746101
NM_005334.3(HCFC1):c.797+13T>A rs782674735
NM_005334.3(HCFC1):c.797+15A>C rs2521697333
NM_005334.3(HCFC1):c.797+9C>T rs1557117174
NM_005334.3(HCFC1):c.798-11C>T rs2521688376
NM_005334.3(HCFC1):c.798-11_798-9del rs2521688321
NM_005334.3(HCFC1):c.798-15C>T rs2521688498
NM_005334.3(HCFC1):c.798-5C>T rs2521688092
NM_005334.3(HCFC1):c.84G>A (p.Pro28=) rs2521819952
NM_005334.3(HCFC1):c.858C>T (p.His286=)
NM_005334.3(HCFC1):c.867G>A (p.Glu289=)
NM_005334.3(HCFC1):c.87G>A (p.Val29=) rs2521819906
NM_005334.3(HCFC1):c.885G>A (p.Thr295=) rs2521687304
NM_005334.3(HCFC1):c.904+16G>A rs2065429660
NM_005334.3(HCFC1):c.90A>C (p.Pro30=) rs2521819861
NM_005334.3(HCFC1):c.927C>T (p.Ile309=) rs781961859
NM_005334.3(HCFC1):c.954C>A (p.Ile318=) rs1557116495

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