ClinVar Miner

List of variants reported as uncertain significance for homocystinuria

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1366
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000071.3(CBS):c.-136C>T rs543595103 0.00096
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00063
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) rs74790259 0.00059
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) rs113390214 0.00055
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr) rs147447600 0.00055
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser) rs73477459 0.00050
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769 0.00041
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432 0.00035
NM_000254.3(MTR):c.1953+6G>C rs147410975 0.00034
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421 0.00034
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.600G>A (p.Pro200=) rs181472622 0.00029
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu) rs142696207 0.00029
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_000071.3(CBS):c.829-11G>T rs371619788 0.00025
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_000071.3(CBS):c.1273G>A (p.Val425Met) rs138211175 0.00022
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000071.3(CBS):c.5C>T (p.Pro2Leu) rs546530618 0.00019
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln) rs199986349 0.00019
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00019
NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val) rs145544233 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp) rs368735885 0.00018
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala) rs201714172 0.00017
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_000254.3(MTR):c.13C>A (p.Leu5Ile) rs139083778 0.00016
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306 0.00016
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_018368.4(LMBRD1):c.*166A>G rs960902863 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) rs140956566 0.00014
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) rs557853306 0.00014
NM_005050.4(ABCD4):c.719+6T>C rs755014125 0.00014
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 0.00014
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) rs201601241 0.00014
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro) rs111465715 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_018368.4(LMBRD1):c.*125A>G rs886061689 0.00013
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val) rs140727621 0.00013
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp) rs766444814 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_000071.3(CBS):c.221C>T (p.Pro74Leu) rs762862715 0.00011
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) rs140183705 0.00011
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg) rs996966324 0.00011
NM_005957.5(MTHFR):c.400C>T (p.Arg134Cys) rs45550133 0.00011
NM_000071.3(CBS):c.1146-12C>T rs199550738 0.00010
NM_000071.3(CBS):c.1223+5G>A rs372609349 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 0.00010
NM_000254.3(MTR):c.68A>G (p.Asn23Ser) rs760845484 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_005957.5(MTHFR):c.907G>A (p.Val303Met) rs143466425 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_018368.4(LMBRD1):c.*384A>C rs536469891 0.00010
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191 0.00010
NM_000071.3(CBS):c.404C>T (p.Thr135Met) rs144832032 0.00009
NM_000254.3(MTR):c.355A>G (p.Met119Val) rs538707626 0.00009
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val) rs368445200 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005957.5(MTHFR):c.1333C>T (p.Arg445Trp) rs138469955 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_000071.3(CBS):c.134G>A (p.Arg45Gln) rs759502207 0.00008
NM_000071.3(CBS):c.400G>A (p.Gly134Arg) rs147474549 0.00008
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_002454.3(MTRR):c.1676+3A>G rs369853875 0.00008
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_000071.3(CBS):c.888G>A (p.Thr296=) rs769593715 0.00007
NM_000254.3(MTR):c.2474-3T>A rs771491872 0.00007
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) rs372106115 0.00007
NM_002454.3(MTRR):c.1998A>C (p.Gln666His) rs767507060 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_005050.4(ABCD4):c.425+6C>T rs368213518 0.00007
NM_000071.3(CBS):c.1039+3G>A rs747384273 0.00006
NM_000071.3(CBS):c.1067T>C (p.Val356Ala) rs370163789 0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) rs780508029 0.00006
NM_000071.3(CBS):c.1379C>T (p.Thr460Met) rs752596508 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.1425G>A (p.Pro475=) rs147885808 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr) rs1060500680 0.00006
NM_000071.3(CBS):c.352G>A (p.Val118Met) rs763385546 0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met) rs372679328 0.00006
NM_000071.3(CBS):c.65A>G (p.His22Arg) rs763151207 0.00006
NM_000071.3(CBS):c.786G>A (p.Thr262=) rs551782391 0.00006
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) rs146931200 0.00006
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys) rs769801712 0.00006
NM_000254.3(MTR):c.55C>T (p.Arg19Trp) rs376681897 0.00006
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) rs766371534 0.00006
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002454.3(MTRR):c.383A>G (p.His128Arg) rs185235284 0.00006
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) rs375421492 0.00006
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_015702.3(MMADHC):c.*241A>G rs528409808 0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr) rs375328924 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His) rs373241693 0.00006
NM_000071.3(CBS):c.1468-6T>G rs771250766 0.00005
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg) rs201916339 0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met) rs769541394 0.00005
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) rs147670189 0.00005
NM_000254.3(MTR):c.764+6T>C rs377357761 0.00005
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028 0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) rs757635349 0.00005
NM_005050.4(ABCD4):c.1028+5G>A rs533842238 0.00005
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601 0.00005
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser) rs538521064 0.00005
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) rs782310209 0.00005
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu) rs775190420 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met) rs767657325 0.00005
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811 0.00005
NM_000071.3(CBS):c.1281G>A (p.Pro427=) rs563330591 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219 0.00004
NM_000071.3(CBS):c.71C>T (p.Ala24Val) rs759682004 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) rs144374509 0.00004
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) rs750824195 0.00004
NM_000254.3(MTR):c.2326G>A (p.Val776Met) rs542575330 0.00004
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp) rs201015844 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.356T>C (p.Met119Thr) rs151161326 0.00004
NM_000254.3(MTR):c.632A>G (p.Asn211Ser) rs546918671 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly) rs1183944927 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031 0.00004
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu) rs201557658 0.00004
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys) rs374984401 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00004
NM_005957.5(MTHFR):c.607G>A (p.Glu203Lys) rs1018203291 0.00004
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn) rs45589033 0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) rs765167328 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro) rs779575471 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His) rs150831620 0.00004
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln) rs777374813 0.00004
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu) rs373481039 0.00004
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn) rs370829456 0.00004
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val) rs772119224 0.00004
NM_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000071.3(CBS):c.1106G>A (p.Arg369His) rs11700812 0.00003
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) rs371214833 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys) rs370983323 0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg) rs748953468 0.00003
NM_000071.3(CBS):c.209C>T (p.Pro70Leu) rs2229413 0.00003
NM_000071.3(CBS):c.296T>C (p.Phe99Ser) rs112029370 0.00003
NM_000071.3(CBS):c.412C>T (p.Pro138Ser) rs765702034 0.00003
NM_000071.3(CBS):c.538G>A (p.Val180Met) rs759402521 0.00003
NM_000071.3(CBS):c.588G>C (p.Arg196Ser) rs555751528 0.00003
NM_000071.3(CBS):c.616G>A (p.Val206Met) rs369220569 0.00003
NM_000071.3(CBS):c.791T>C (p.Ile264Thr) rs760212248 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
NM_000254.3(MTR):c.1943G>A (p.Arg648His) rs751565093 0.00003
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) rs201755946 0.00003
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro) rs146569329 0.00003
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser) rs780045701 0.00003
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) rs755408035 0.00003
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) rs773984668 0.00003
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln) rs747987460 0.00003
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) rs1439756712 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) rs1252960661 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile) rs45590836 0.00003
NM_005957.5(MTHFR):c.867C>A (p.Asp289Glu) rs139786244 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 0.00003
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val) rs561540830 0.00003
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val) rs771282181 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly) rs759703455 0.00003
NM_000071.3(CBS):c.1337C>T (p.Ala446Val) rs757347527 0.00002
NM_000071.3(CBS):c.1342G>A (p.Val448Met) rs865989946 0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000071.3(CBS):c.545G>A (p.Arg182Gln) rs138314784 0.00002
NM_000071.3(CBS):c.599C>T (p.Pro200Leu) rs758712880 0.00002
NM_000071.3(CBS):c.637G>A (p.Glu213Lys) rs758703098 0.00002
NM_000071.3(CBS):c.921C>G (p.Gly307=) rs147875876 0.00002
NM_000071.3(CBS):c.925G>A (p.Asp309Asn) rs540013184 0.00002
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser) rs1286773616 0.00002
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys) rs138876566 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu) rs1479249107 0.00002
NM_000254.3(MTR):c.179C>G (p.Ala60Gly) rs775827591 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000254.3(MTR):c.2852-3T>C rs986257997 0.00002
NM_000254.3(MTR):c.388G>A (p.Glu130Lys) rs755894287 0.00002
NM_000254.3(MTR):c.821T>C (p.Ile274Thr) rs368380397 0.00002
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00002
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly) rs1239051004 0.00002
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala) rs777447397 0.00002
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr) rs767321681 0.00002
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser) rs763568058 0.00002
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) rs754157293 0.00002
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys) rs771010169 0.00002
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val) rs763842574 0.00002
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile) rs764251926 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) rs782325660 0.00002
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser) rs782399563 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) rs782560491 0.00002
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023 0.00002
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) rs774934088 0.00002
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly) rs761226286 0.00002
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile) rs781158269 0.00002
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr) rs765834557 0.00002
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823 0.00002
NM_015506.3(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu) rs371004372 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys) rs777544556 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 0.00002
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr) rs1340799992 0.00002
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val) rs775365046 0.00002
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser) rs376076271 0.00002
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867 0.00002
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln) rs747354714 0.00002
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_000071.3(CBS):c.1019C>T (p.Ala340Val) rs1282760211 0.00001
NM_000071.3(CBS):c.1065G>A (p.Ala355=) rs748552493 0.00001
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly) rs863223437 0.00001
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp) rs1324151005 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.1478C>T (p.Thr493Met) rs996249907 0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=) rs750311684 0.00001
NM_000071.3(CBS):c.1600G>A (p.Val534Ile) rs779569366 0.00001
NM_000071.3(CBS):c.172C>T (p.Arg58Trp) rs555959266 0.00001
NM_000071.3(CBS):c.210-3C>T rs562656023 0.00001
NM_000071.3(CBS):c.34C>T (p.Pro12Ser) rs558259739 0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His) rs779011920 0.00001
NM_000071.3(CBS):c.401G>C (p.Gly134Ala) rs766958673 0.00001
NM_000071.3(CBS):c.422C>T (p.Thr141Met) rs771178320 0.00001
NM_000071.3(CBS):c.463G>A (p.Ala155Thr) rs1429138569 0.00001
NM_000071.3(CBS):c.505A>T (p.Met169Leu) rs1371228792 0.00001
NM_000071.3(CBS):c.548C>T (p.Ala183Val) rs374464810 0.00001
NM_000071.3(CBS):c.632A>G (p.Lys211Arg) rs201118737 0.00001
NM_000071.3(CBS):c.676G>C (p.Ala226Pro) rs763835246 0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu) rs775785018 0.00001
NM_000071.3(CBS):c.736+4C>T rs756191746 0.00001
NM_000071.3(CBS):c.736+5G>A rs750518463 0.00001
NM_000071.3(CBS):c.736+6T>C rs201727754 0.00001
NM_000071.3(CBS):c.79_81dup (p.Ser27dup) rs754535608 0.00001
NM_000071.3(CBS):c.829-3C>T rs780624117 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000254.3(MTR):c.1074T>C (p.Ser358=) rs1430063160 0.00001
NM_000254.3(MTR):c.127C>T (p.Arg43Trp) rs757720946 0.00001
NM_000254.3(MTR):c.1483A>G (p.Met495Val) rs775291294 0.00001
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) rs1663831931 0.00001
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp) rs151031178 0.00001
NM_000254.3(MTR):c.1657T>C (p.Tyr553His) rs767156705 0.00001
NM_000254.3(MTR):c.1954-6A>G rs1553321372 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000254.3(MTR):c.2294T>C (p.Val765Ala) rs931972359 0.00001
NM_000254.3(MTR):c.2304+4A>G rs778478523 0.00001
NM_000254.3(MTR):c.2329C>G (p.Leu777Val) rs758778075 0.00001
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr) rs147387989 0.00001
NM_000254.3(MTR):c.2422G>A (p.Val808Ile) rs745749921 0.00001
NM_000254.3(MTR):c.2594+3A>G rs757969059 0.00001
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly) rs149165917 0.00001
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys) rs1416094227 0.00001
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) rs773190246 0.00001
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu) rs772400119 0.00001
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg) rs755595867 0.00001
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr) rs1474412109 0.00001
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr) rs756706737 0.00001
NM_000254.3(MTR):c.3205-196A>G rs544410324 0.00001
NM_000254.3(MTR):c.325G>A (p.Gly109Ser) rs746836137 0.00001
NM_000254.3(MTR):c.3281G>A (p.Arg1094His) rs764803333 0.00001
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val) rs759436870 0.00001
NM_000254.3(MTR):c.340-3T>C rs772591750 0.00001
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) rs781725496 0.00001
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser) rs1188027807 0.00001
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) rs369154176 0.00001
NM_000254.3(MTR):c.347G>A (p.Arg116Gln) rs1414249194 0.00001
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys) rs761657622 0.00001
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg) rs779312137 0.00001
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) rs757429726 0.00001
NM_000254.3(MTR):c.586A>G (p.Ile196Val) rs776426879 0.00001
NM_000254.3(MTR):c.712G>A (p.Gly238Arg) rs934470002 0.00001
NM_000254.3(MTR):c.755A>G (p.Glu252Gly) rs758776466 0.00001
NM_001287444.2(DCDC2C):c.955-1G>C rs1167362443 0.00001
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) rs140944718 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) rs746404785 0.00001
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser) rs1243456483 0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) rs749461781 0.00001
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu) rs937595017 0.00001
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln) rs1343250131 0.00001
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser) rs771421325 0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) rs771123203 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) rs1318949494 0.00001
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser) rs144020429 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly) rs1484416611 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.487A>G (p.Ile163Val) rs886060804 0.00001
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr) rs1182297284 0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val) rs753325140 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe) rs1238722351 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830 0.00001
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) rs766083570 0.00001
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys) rs1446995315 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 0.00001
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=) rs546298874 0.00001
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg) rs759539743 0.00001
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg) rs1360319567 0.00001
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734 0.00001
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile) rs780846855 0.00001
NM_005050.4(ABCD4):c.166G>A (p.Val56Met) rs2083804334 0.00001
NM_005050.4(ABCD4):c.1752+2T>C rs151116417 0.00001
NM_005050.4(ABCD4):c.1753-18G>A rs772567988 0.00001
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys) rs773609274 0.00001
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856 0.00001
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His) rs1349388678 0.00001
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp) rs373322009 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg) rs1280841182 0.00001
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr) rs761053363 0.00001
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala) rs781937365 0.00001
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val) rs781971515 0.00001
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr) rs782235304 0.00001
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) rs1043389387 0.00001
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) rs1557113936 0.00001
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459 0.00001
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) rs782122807 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr) rs1557112927 0.00001
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) rs372010656 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448 0.00001
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) rs1557112412 0.00001
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=) rs147727428 0.00001
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile) rs766683363 0.00001
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser) rs762663885 0.00001
NM_005957.5(MTHFR):c.1034G>A (p.Arg345His) rs753278299 0.00001
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) rs786204023 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys) rs764650203 0.00001
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala) rs779726227 0.00001
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu) rs747712448 0.00001
NM_005957.5(MTHFR):c.177G>T (p.Trp59Cys) rs767789270 0.00001
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) rs749490263 0.00001
NM_005957.5(MTHFR):c.248T>C (p.Met83Thr) rs1426036757 0.00001
NM_005957.5(MTHFR):c.382A>G (p.Met128Val) rs202095816 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp) rs776195746 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) rs373398993 0.00001
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) rs1553186124 0.00001
NM_005957.5(MTHFR):c.797G>A (p.Arg266Gln) rs571238208 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp) rs780981680 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala) rs1010232462 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys) rs374086070 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556 0.00001
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr) rs775175927 0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) rs755472574 0.00001
NM_015702.3(MMADHC):c.155-3C>T rs773403678 0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492 0.00001
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr) rs780889876 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser) rs766017009 0.00001
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln) rs772350306 0.00001
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055 0.00001
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692 0.00001
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847 0.00001
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys) rs1364347331 0.00001
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971 0.00001
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys) rs781535724 0.00001
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys) rs982934588 0.00001
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val) rs765308443 0.00001
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala) rs201773048 0.00001
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe) rs1562105981 0.00001
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro) rs1766557026 0.00001
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala) rs1297619412 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr) rs752377027 0.00001
NC_000001.10:g.(?_236959004)_(237060944_?)dup
NC_000001.10:g.(?_237060286)_(237060944_?)dup
NC_000001.10:g.(?_45966005)_(45977106_?)dup
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000005.9:g.(?_7870908)_(7900171_?)dup
NC_000005.9:g.(?_7895827)_(7900171_?)dup
NC_000006.11:g.(?_70386050)_(70490466_?)dup
NC_000006.11:g.(?_70490366)_(70506773_?)dup
NC_000021.8:g.(?_44472301)_(44497040_?)dup
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NM_000071.2(CBS):c.-242T>C rs1983687076
NM_000071.3(CBS):c.*132G>C rs550053103
NM_000071.3(CBS):c.*140G>A rs544806265
NM_000071.3(CBS):c.*19G>A rs1555869794
NM_000071.3(CBS):c.*19G>C rs1555869794
NM_000071.3(CBS):c.*20T>C rs1555869789
NM_000071.3(CBS):c.*286A>G rs998021241
NM_000071.3(CBS):c.*296T>C rs4987122
NM_000071.3(CBS):c.*305T>C rs1202078818
NM_000071.3(CBS):c.*394C>T rs1175113287
NM_000071.3(CBS):c.*409G>A rs571374721
NM_000071.3(CBS):c.*409G>T rs571374721
NM_000071.3(CBS):c.*472C>T rs886057096
NM_000071.3(CBS):c.*55_*57del rs886057097
NM_000071.3(CBS):c.*592T>A rs866356348
NM_000071.3(CBS):c.*80C>T rs141447394
NM_000071.3(CBS):c.-50dup rs886057101
NM_000071.3(CBS):c.-81C>T rs1983542635
NM_000071.3(CBS):c.-85+10G>C rs886057102
NM_000071.3(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA rs1568943606
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1009A>C (p.Met337Leu) rs372822486
NM_000071.3(CBS):c.1017C>T (p.Ile339=) rs773933333
NM_000071.3(CBS):c.1039+6T>G rs1601349690
NM_000071.3(CBS):c.103G>A (p.Asp35Asn)
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
NM_000071.3(CBS):c.1040G>C (p.Gly347Ala)
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del) rs863223436
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.3(CBS):c.106A>G (p.Lys36Glu) rs904453895
NM_000071.3(CBS):c.1071C>T (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1076A>T (p.Lys359Met) rs779940364
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.3(CBS):c.1082C>T (p.Ala361Val) rs370851632
NM_000071.3(CBS):c.1090_1098dup (p.Leu364_Glu366dup) rs2146352325
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
NM_000071.3(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.3(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.3(CBS):c.1141T>C (p.Tyr381His) rs267606145
NM_000071.3(CBS):c.1146-3C>T rs2146344469
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
NM_000071.3(CBS):c.1179G>T (p.Gln393His) rs2146344173
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del) rs745438246
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys) rs1485255027
NM_000071.3(CBS):c.1208C>A (p.Thr403Lys) rs886042297
NM_000071.3(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.3(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.3(CBS):c.1212G>C (p.Glu404Asp)
NM_000071.3(CBS):c.1213A>C (p.Lys405Gln) rs570121873
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del) rs780555741
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.3(CBS):c.1238G>A (p.Arg413His)
NM_000071.3(CBS):c.1252G>A (p.Gly418Ser) rs1200734227
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.1273G>C (p.Val425Leu)
NM_000071.3(CBS):c.1301C>A (p.Thr434Asn) rs1555872506
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr) rs1282119406
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp) rs886057099
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.3(CBS):c.1359G>C (p.Gly453=) rs1307473439
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
NM_000071.3(CBS):c.1381C>T (p.Leu461Phe)
NM_000071.3(CBS):c.1382T>G (p.Leu461Arg)
NM_000071.3(CBS):c.13A>G (p.Thr5Ala) rs2146429088
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
NM_000071.3(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000071.3(CBS):c.1448T>C (p.Ile483Thr)
NM_000071.3(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu) rs886057098
NM_000071.3(CBS):c.1454A>G (p.Lys485Arg)
NM_000071.3(CBS):c.1457A>G (p.Gln486Arg) rs2146337741
NM_000071.3(CBS):c.1467+4C>T rs1981503515
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
NM_000071.3(CBS):c.1514T>G (p.Met505Arg) rs1981234989
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
NM_000071.3(CBS):c.1552+5G>A
NM_000071.3(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys) rs1555869958
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp) rs1455031864
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln) rs551198487
NM_000071.3(CBS):c.1597G>T (p.Val533Leu) rs1568916218
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val) rs754031824
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn) rs1980865900
NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.3(CBS):c.170G>A (p.Gly57Asp) rs1295461215
NM_000071.3(CBS):c.179C>T (p.Ala60Val) rs765352771
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
NM_000071.3(CBS):c.209+5G>C rs1555876750
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
NM_000071.3(CBS):c.23C>T (p.Ala8Val) rs919403971
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.28G>T (p.Val10Leu)
NM_000071.3(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.3(CBS):c.298G>A (p.Gly100Ser)
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.3(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.3(CBS):c.316+5G>C rs1601375508
NM_000071.3(CBS):c.323A>G (p.Lys108Arg) rs2146395442
NM_000071.3(CBS):c.344G>A (p.Gly115Asp)
NM_000071.3(CBS):c.349A>T (p.Ser117Cys) rs1982753226
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.381T>G (p.Ile127Met) rs199824647
NM_000071.3(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.3(CBS):c.394C>A (p.Arg132Ser) rs140002610
NM_000071.3(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.3(CBS):c.421A>G (p.Thr141Ala) rs2146393956
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
NM_000071.3(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.3(CBS):c.450C>A (p.Thr150=)
NM_000071.3(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.3(CBS):c.451+20G>T rs1057520922
NM_000071.3(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.49C>A (p.His17Asn) rs2146428735
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.518T>G (p.Met173Arg) rs1982605960
NM_000071.3(CBS):c.52C>A (p.Arg18Ser) rs201827340
NM_000071.3(CBS):c.530A>C (p.Lys177Thr)
NM_000071.3(CBS):c.532G>A (p.Val178Met) rs370843514
NM_000071.3(CBS):c.539T>C (p.Val180Ala) rs1555875010
NM_000071.3(CBS):c.542T>C (p.Leu181Pro)
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
NM_000071.3(CBS):c.596C>G (p.Ser199Cys) rs1982554358
NM_000071.3(CBS):c.59G>A (p.Gly20Glu) rs1983457688
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.3(CBS):c.624G>T (p.Trp208Cys) rs774174074
NM_000071.3(CBS):c.626G>A (p.Arg209Gln) rs781759129
NM_000071.3(CBS):c.626G>C (p.Arg209Pro)
NM_000071.3(CBS):c.636C>G (p.Asn212Lys) rs2298758
NM_000071.3(CBS):c.638A>G (p.Glu213Gly)
NM_000071.3(CBS):c.650C>T (p.Ser217Phe) rs1555874874
NM_000071.3(CBS):c.664C>T (p.Gln222Ter) rs1568932262
NM_000071.3(CBS):c.667-14C>G rs1388184910
NM_000071.3(CBS):c.667-3C>A
NM_000071.3(CBS):c.671G>A (p.Arg224His)
NM_000071.3(CBS):c.671G>T (p.Arg224Leu) rs761647392
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.685C>A (p.Pro229Thr) rs375730175
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.709G>A (p.Ala237Thr)
NM_000071.3(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr) rs1982489718
NM_000071.3(CBS):c.737-10C>A
NM_000071.3(CBS):c.737-10C>G
NM_000071.3(CBS):c.741G>C (p.Lys247Asn) rs746892057
NM_000071.3(CBS):c.745G>A (p.Asp249Asn) rs767397847
NM_000071.3(CBS):c.748A>G (p.Met250Val) rs777884368
NM_000071.3(CBS):c.748A>T (p.Met250Leu)
NM_000071.3(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.3(CBS):c.750G>C (p.Met250Ile)
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.753G>T (p.Leu251=) rs2146375662
NM_000071.3(CBS):c.754G>A (p.Val252Met)
NM_000071.3(CBS):c.75G>T (p.Lys25Asn) rs1484147890
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
NM_000071.3(CBS):c.763G>C (p.Val255Leu) rs1982371715
NM_000071.3(CBS):c.808G>A (p.Glu270Lys)
NM_000071.3(CBS):c.808_810del (p.Glu270del) rs760710691
NM_000071.3(CBS):c.817C>T (p.Pro273Ser) rs2146374921
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.829-2dup
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.838G>A (p.Val280Met) rs1982225866
NM_000071.3(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.3(CBS):c.862G>T (p.Ala288Ser) rs141502207
NM_000071.3(CBS):c.866A>G (p.Glu289Gly) rs1601352415
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178
NM_000071.3(CBS):c.887C>G (p.Thr296Arg) rs562530775
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.3(CBS):c.938C>T (p.Thr313Met)
NM_000071.3(CBS):c.946G>A (p.Asp316Asn) rs2146366197
NM_000071.3(CBS):c.954+5G>T rs1568928886
NM_000071.3(CBS):c.954G>A (p.Thr318=) rs776122644
NM_000071.3(CBS):c.955-3C>T
NM_000071.3(CBS):c.987G>C (p.Glu329Asp) rs765151853
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys) rs1322031909
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
NM_000254.3(MTR):c.1251G>T (p.Met417Ile) rs2103148829
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp) rs2103149012
NM_000254.3(MTR):c.128G>A (p.Arg43Gln) rs143088011
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) rs770004849
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser) rs2103166386
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln) rs1572261571
NM_000254.3(MTR):c.1544T>G (p.Val515Gly) rs1663828645
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
NM_000254.3(MTR):c.1695+6T>C
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
NM_000254.3(MTR):c.1953+3A>G rs781246271
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg) rs1664416870
NM_000254.3(MTR):c.1986G>T (p.Gln662His) rs1664418343
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser) rs150058137
NM_000254.3(MTR):c.2044-1G>T
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
NM_000254.3(MTR):c.2196+5G>A rs2103301889
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000254.3(MTR):c.2282T>A (p.Leu761His) rs1664590593
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
NM_000254.3(MTR):c.2304+3A>C rs1572283994
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala) rs968363996
NM_000254.3(MTR):c.2333C>T (p.Ala778Val) rs2103313543
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln) rs760932771
NM_000254.3(MTR):c.2472A>T (p.Ala824=) rs1665277178
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr) rs2147881808
NM_000254.3(MTR):c.2594+1_2594+36dup
NM_000254.3(MTR):c.2594+5G>A
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg) rs1553326540
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
NM_000254.3(MTR):c.271G>C (p.Asp91His)
NM_000254.3(MTR):c.2744A>T (p.Asp915Val) rs977928036
NM_000254.3(MTR):c.2775+4A>G
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
NM_000254.3(MTR):c.2890T>C (p.Tyr964His) rs779579945
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
NM_000254.3(MTR):c.3008-3T>C rs1286783552
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly) rs1666296405
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln) rs2147939390
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe) rs1572341910
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly) rs1666303969
NM_000254.3(MTR):c.3205-9G>A rs1666501324
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr) rs1666504883
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu) rs1221565565
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys) rs1666509852
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln) rs1305962485
NM_000254.3(MTR):c.33C>T (p.Pro11=)
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
NM_000254.3(MTR):c.349A>C (p.Met117Leu) rs143180799
NM_000254.3(MTR):c.349A>G (p.Met117Val) rs143180799
NM_000254.3(MTR):c.35-20A>G
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys) rs756440911
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro) rs778432496
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro) rs2147955084
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) rs777562650
NM_000254.3(MTR):c.3678A>G (p.Lys1226=) rs2147961173
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp) rs2147965312
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000254.3(MTR):c.452A>G (p.Lys151Arg) rs2103039190
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
NM_000254.3(MTR):c.761T>A (p.Leu254His) rs2103062352
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
NM_000254.3(MTR):c.80A>G (p.Gln27Arg) rs1039659576
NM_000254.3(MTR):c.877A>G (p.Thr293Ala) rs2103101092
NM_000254.3(MTR):c.901C>T (p.Pro301Ser) rs766371534
NM_000254.3(MTR):c.907A>G (p.Met303Val)
NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn) rs371188005
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu) rs2126751184
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg) rs776598893
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr) rs1405292334
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
NM_002454.3(MTRR):c.1146+3A>G
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) rs764469824
NM_002454.3(MTRR):c.1401T>G (p.His467Gln) rs1737824362
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys) rs1737830740
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp) rs2126793498
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) rs1737849237
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) rs1737849963
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg) rs2126793764
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
NM_002454.3(MTRR):c.1558-6T>C
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val) rs752471011
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) rs1738616151
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) rs781416288
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
NM_002454.3(MTRR):c.1769+6G>A
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) rs939239779
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr) rs2126814266
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val) rs1739209079
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala) rs775031794
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) rs1748351304
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly) rs2126675683
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.397G>C (p.Val133Leu) rs770923981
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg) rs2126693065
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn) rs748186027
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) rs371860776
NM_002454.3(MTRR):c.781-5T>G rs2126727387
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser) rs750009895
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr) rs776031136
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu) rs2126745024
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly) rs2126745139
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met) rs35073715
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val) rs2081160348
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile) rs945270666
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser) rs2081143591
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
NM_005050.4(ABCD4):c.1328-10G>A
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
NM_005050.4(ABCD4):c.1420-3del
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His) rs1045211254
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
NM_005050.4(ABCD4):c.1507-3_1507-2dup rs746298456
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
NM_005050.4(ABCD4):c.1559+7_1559+11del rs1381694360
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys) rs2140107509
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr) rs754370477
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly) rs2139698542
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His) rs1204078851
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe) rs2139689489
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
NM_005050.4(ABCD4):c.1A>G (p.Met1Val) rs2140174798
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu) rs2140093719
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
NM_005050.4(ABCD4):c.286-3C>T
NM_005050.4(ABCD4):c.286-7T>A
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala) rs972140495
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu) rs150967109
NM_005050.4(ABCD4):c.448G>A (p.Val150Met) rs574925291
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr) rs778245157
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp) rs1566959741
NM_005050.4(ABCD4):c.814+6C>T rs1012967402
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn) rs2081908223
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly) rs2084043062
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) rs2065417308
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) rs2148589382
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met) rs782132752
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) rs2065413556
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
NM_005334.3(HCFC1):c.2028+6T>C
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
NM_005334.3(HCFC1):c.2353+6G>A
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) rs949004802
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu) rs2065360852
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) rs2065360777
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile) rs2065352881
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg) rs2148571129
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg) rs2148569217
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) rs2065338418
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) rs1277991321
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) rs1603294733
NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met) rs2148563099
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup) rs2148561074
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) rs1376359622
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) rs782384589
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) rs2065309711
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
NM_005334.3(HCFC1):c.712+6C>T rs1165322624
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) rs2065524568
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
NM_005957.5(MTHFR):c.-13-28_-13-12del
NM_005957.5(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.5(MTHFR):c.1004G>C (p.Arg335Pro)
NM_005957.5(MTHFR):c.101C>T (p.Thr34Ile)
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg)
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.1073G>A (p.Arg358Gln)
NM_005957.5(MTHFR):c.1078G>A (p.Glu360Lys)
NM_005957.5(MTHFR):c.107G>T (p.Gly36Val)
NM_005957.5(MTHFR):c.10G>A (p.Glu4Lys)
NM_005957.5(MTHFR):c.1117A>T (p.Ser373Cys) rs1570474242
NM_005957.5(MTHFR):c.1129C>A (p.Arg377Ser)
NM_005957.5(MTHFR):c.1160G>A (p.Gly387Asp)
NM_005957.5(MTHFR):c.1167G>C (p.Trp389Cys) rs1570473609
NM_005957.5(MTHFR):c.1175C>T (p.Ser392Phe)
NM_005957.5(MTHFR):c.1204_1206del (p.Asp402del)
NM_005957.5(MTHFR):c.1223T>G (p.Leu408Arg)
NM_005957.5(MTHFR):c.1228A>G (p.Ser410Gly) rs2100525175
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1252_1275dup (p.Leu418_Leu425dup) rs1334349459
NM_005957.5(MTHFR):c.1305_1306delinsTA (p.Val436Ile)
NM_005957.5(MTHFR):c.1310T>A (p.Leu437His)
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=) rs367585605
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)
NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser)
NM_005957.5(MTHFR):c.1407G>C (p.Glu469Asp) rs2100519489
NM_005957.5(MTHFR):c.1417C>T (p.Arg473Trp)
NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln)
NM_005957.5(MTHFR):c.145A>G (p.Met49Val) rs1570498105
NM_005957.5(MTHFR):c.1475C>T (p.Pro492Leu)
NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala)
NM_005957.5(MTHFR):c.1528A>G (p.Lys510Glu) rs1425929014
NM_005957.5(MTHFR):c.1529A>C (p.Lys510Thr) rs753049408
NM_005957.5(MTHFR):c.1530+6G>A
NM_005957.5(MTHFR):c.1531-12T>A
NM_005957.5(MTHFR):c.1556G>A (p.Arg519His)
NM_005957.5(MTHFR):c.1571C>G (p.Ala524Gly) rs774934088
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.5(MTHFR):c.1616A>G (p.His539Arg)
NM_005957.5(MTHFR):c.1621G>T (p.Val541Phe) rs1644131560
NM_005957.5(MTHFR):c.162A>T (p.Glu54Asp) rs753692902
NM_005957.5(MTHFR):c.1646_1648del (p.Thr549del)
NM_005957.5(MTHFR):c.1690T>C (p.Phe564Leu)
NM_005957.5(MTHFR):c.1700G>A (p.Arg567Gln)
NM_005957.5(MTHFR):c.1753-16G>A
NM_005957.5(MTHFR):c.1753-22_1753-3del rs752911686
NM_005957.5(MTHFR):c.1753-34_1753-19del
NM_005957.5(MTHFR):c.1753-3T>G
NM_005957.5(MTHFR):c.1780C>T (p.Arg594Trp)
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys) rs2100495013
NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del)
NM_005957.5(MTHFR):c.17G>A (p.Arg6Lys)
NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser)
NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys)
NM_005957.5(MTHFR):c.1817G>A (p.Arg606His)
NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn) rs879406669
NM_005957.5(MTHFR):c.1860C>G (p.Asn620Lys)
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly)
NM_005957.5(MTHFR):c.1892G>A (p.Cys631Tyr)
NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys)
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp)
NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys)
NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys)
NM_005957.5(MTHFR):c.199C>T (p.Pro67Ser) rs1644422806
NM_005957.5(MTHFR):c.240T>G (p.Phe80Leu) rs541505625
NM_005957.5(MTHFR):c.245G>A (p.Arg82Gln)
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp)
NM_005957.5(MTHFR):c.265C>G (p.Leu89Val) rs1042792109
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val)
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr)
NM_005957.5(MTHFR):c.334A>G (p.Ile112Val) rs1421914910
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_005957.5(MTHFR):c.362G>T (p.Gly121Val)
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys)
NM_005957.5(MTHFR):c.385A>G (p.Thr129Ala)
NM_005957.5(MTHFR):c.394C>T (p.Arg132Cys)
NM_005957.5(MTHFR):c.395G>A (p.Arg132His)
NM_005957.5(MTHFR):c.401G>A (p.Arg134His)
NM_005957.5(MTHFR):c.421C>G (p.His141Asp)
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) rs776195746
NM_005957.5(MTHFR):c.475+4T>C
NM_005957.5(MTHFR):c.476-9A>G rs2100562141
NM_005957.5(MTHFR):c.4G>A (p.Val2Met)
NM_005957.5(MTHFR):c.524C>A (p.Ala175Glu)
NM_005957.5(MTHFR):c.571G>A (p.Asp191Asn)
NM_005957.5(MTHFR):c.587-11C>G
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp) rs776901659
NM_005957.5(MTHFR):c.58A>G (p.Ser20Gly)
NM_005957.5(MTHFR):c.62G>A (p.Ser21Asn)
NM_005957.5(MTHFR):c.638A>G (p.His213Arg)
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu) rs1644255161
NM_005957.5(MTHFR):c.659C>T (p.Ala220Val)
NM_005957.5(MTHFR):c.676A>G (p.Ile226Val) rs773410203
NM_005957.5(MTHFR):c.707T>C (p.Phe236Ser)
NM_005957.5(MTHFR):c.708C>G (p.Phe236Leu)
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys)
NM_005957.5(MTHFR):c.725C>G (p.Ala242Gly)
NM_005957.5(MTHFR):c.733G>A (p.Asp245Asn)
NM_005957.5(MTHFR):c.737T>C (p.Met246Thr)
NM_005957.5(MTHFR):c.755T>A (p.Ile252Asn) rs2100537636
NM_005957.5(MTHFR):c.755T>G (p.Ile252Ser)
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr) rs1570478057
NM_005957.5(MTHFR):c.780+3G>A
NM_005957.5(MTHFR):c.782G>T (p.Gly261Val) rs747665983
NM_005957.5(MTHFR):c.892G>A (p.Gly298Ser)
NM_005957.5(MTHFR):c.905C>G (p.Ala302Gly)
NM_005957.5(MTHFR):c.932C>A (p.Ala311Asp)
NM_005957.5(MTHFR):c.947C>T (p.Pro316Leu)
NM_005957.5(MTHFR):c.998T>A (p.Leu333Gln)
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg) rs2149323209
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) rs775502093
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg) rs750127773
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile) rs772225967
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.276+5G>A
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) rs1553162829
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del) rs1557607881
NM_015506.3(MMACHC):c.319G>A (p.Val107Met) rs758730415
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del) rs1643666069
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) rs1006520706
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.393A>C (p.Gln131His) rs2149323606
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala) rs1570832855
NM_015506.3(MMACHC):c.490G>A (p.Val164Met) rs1417321919
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr) rs1643678565
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn) rs748747319
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser) rs192924272
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.704del (p.Gly235fs)
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs) rs1643689610
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly) rs34258482
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) rs1553163019
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015702.3(MMADHC):c.-136G>C rs1682898571
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) rs1682767724
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg) rs1334273037
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.329A>G (p.Glu110Gly)
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
NM_015702.3(MMADHC):c.373-5C>A
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val) rs768142805
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg) rs1226772166
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu) rs549522925
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys) rs773493767
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs) rs2105041468
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg) rs2105041421
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg) rs1401528755
NM_018368.4(LMBRD1):c.*220G>T rs1765534415
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr) rs2149844901
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser) rs1766127830
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr) rs2149844500
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) rs2149843427
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe) rs758878362
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) rs761378514
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val) rs1402538766
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val) rs750928457
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val) rs756284919
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys) rs1765174962
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser) rs2149856480
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys) rs2149856461
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln) rs1766553572
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val) rs1409901040
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val) rs2149845543
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
NM_018368.4(LMBRD1):c.980+3A>G
NM_018368.4(LMBRD1):c.981-14G>T rs1324981458
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr) rs766881860

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.