ClinVar Miner

List of variants reported as uncertain significance for anemia by Revvity Omics, Revvity

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 615
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_000365.6(TPI1):c.463G>A (p.Val155Met) rs188138723 0.00118
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00083
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479 0.00075
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) rs140534765 0.00051
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met) rs143857276 0.00048
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00044
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val) rs143974871 0.00044
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp) rs201674874 0.00042
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
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_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) rs145851500 0.00037
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432 0.00035
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys) rs202135467 0.00031
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080 0.00031
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys) rs374042346 0.00025
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp) rs556217576 0.00025
NM_001114134.2(EPB42):c.10+91G>A rs150530456 0.00024
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met) rs199787216 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg) rs199634098 0.00023
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) rs200263785 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys) rs752163489 0.00018
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr) rs144693278 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00013
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser) rs146810840 0.00012
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) rs141651499 0.00011
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln) rs910234195 0.00011
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg) rs150491625 0.00010
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) rs762024253 0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015 0.00008
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met) rs115972761 0.00008
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His) rs574214196 0.00008
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu) rs200509497 0.00007
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg) rs758323919 0.00007
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met) rs535792693 0.00007
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His) rs369919247 0.00007
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) rs930337550 0.00006
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr) rs533670667 0.00006
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln) rs374503872 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr) rs1225225979 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) rs150453226 0.00006
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser) rs551385115 0.00006
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu) rs368192130 0.00006
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys) rs139757085 0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) rs140529288 0.00005
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His) rs372878614 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000037.4(ANK1):c.563C>T (p.Thr188Met) rs146346710 0.00004
NM_000136.3(FANCC):c.626G>A (p.Arg209His) rs587778327 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000637.5(GSR):c.859G>A (p.Val287Met) rs750862066 0.00004
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln) rs886051168 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_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn) rs372991604 0.00004
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser) rs776881666 0.00004
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu) rs752497862 0.00004
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) rs150655828 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000365.6(TPI1):c.730A>G (p.Ile244Val) rs143000041 0.00003
NM_000637.5(GSR):c.242G>A (p.Arg81His) rs767823911 0.00003
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser) rs148828956 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) rs563833117 0.00002
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) rs746486928 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000289.6(PFKM):c.140G>A (p.Arg47His) rs748718049 0.00002
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169 0.00002
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu) rs570385246 0.00002
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) rs782325660 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp) rs751799284 0.00002
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp) rs142276684 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000096.4(CP):c.2677T>G (p.Leu893Val) rs769138783 0.00001
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) rs912838333 0.00001
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met) rs769970040 0.00001
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 0.00001
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro) rs372338418 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00001
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr) rs547475819 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly) rs773689278 0.00001
NM_001022.4(RPS19):c.259G>A (p.Val87Ile) rs782752734 0.00001
NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn) rs1374938976 0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile) rs515726211 0.00001
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys) rs779421883 0.00001
NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val) rs745905322 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_004629.2(FANCG):c.1473A>G (p.Lys491=) rs769921972 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_015702.3(MMADHC):c.155-3C>T rs773403678 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) rs786203608 0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) rs533814557 0.00001
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu) rs1417779335 0.00001
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816 0.00001
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala) rs191247450 0.00001
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu) rs370476233 0.00001
NM_000037.4(ANK1):c.1028A>C (p.His343Pro)
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1303G>A (p.Val435Met)
NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)
NM_000037.4(ANK1):c.1786C>A (p.His596Asn)
NM_000037.4(ANK1):c.1801-3C>G
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)
NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)
NM_000037.4(ANK1):c.2098-5T>C rs2150613009
NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)
NM_000037.4(ANK1):c.247C>T (p.His83Tyr)
NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)
NM_000037.4(ANK1):c.253G>A (p.Ala85Thr)
NM_000037.4(ANK1):c.253G>T (p.Ala85Ser)
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.28-6_29dup
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)
NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)
NM_000037.4(ANK1):c.2971G>A (p.Val991Met)
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)
NM_000037.4(ANK1):c.310G>A (p.Val104Ile)
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile) rs2150592257
NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)
NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)
NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)
NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)
NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)
NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)
NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)
NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
NM_000037.4(ANK1):c.634A>G (p.Ile212Val)
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
NM_000037.4(ANK1):c.694G>A (p.Val232Ile)
NM_000037.4(ANK1):c.711+3A>C
NM_000037.4(ANK1):c.749G>T (p.Gly250Val)
NM_000037.4(ANK1):c.761T>C (p.Met254Thr)
NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)
NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)
NM_000037.4(ANK1):c.935C>T (p.Ala312Val)
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)
NM_000096.4(CP):c.1169T>C (p.Ile390Thr)
NM_000096.4(CP):c.1333C>T (p.His445Tyr)
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met) rs752092543
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
NM_000175.5(GPI):c.190G>A (p.Val64Met)
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
NM_000175.5(GPI):c.885G>T (p.Gln295His)
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
NM_000175.5(GPI):c.91G>C (p.Asp31His)
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
NM_000289.6(PFKM):c.1654-54_1654-46del
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
NM_000289.6(PFKM):c.2093-33G>C
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)
NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)
NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)
NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)
NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)
NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)
NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)
NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)
NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)
NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)
NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)
NM_000476.3(AK1):c.158G>A (p.Arg53Lys)
NM_000476.3(AK1):c.229C>T (p.Arg77Trp)
NM_000476.3(AK1):c.238A>G (p.Met80Val)
NM_000476.3(AK1):c.254A>G (p.Asn85Ser)
NM_000476.3(AK1):c.409G>A (p.Gly137Arg)
NM_000476.3(AK1):c.530G>A (p.Gly177Asp)
NM_000476.3(AK1):c.535G>C (p.Val179Leu)
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
NM_000476.3(AK1):c.78G>C (p.Glu26Asp)
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)
NM_000637.5(GSR):c.1358C>T (p.Ala453Val)
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)
NM_000637.5(GSR):c.172G>T (p.Ala58Ser)
NM_000637.5(GSR):c.372T>C (p.His124=)
NM_000637.5(GSR):c.395C>T (p.Pro132Leu)
NM_000637.5(GSR):c.433G>A (p.Glu145Lys)
NM_000637.5(GSR):c.439C>G (p.Arg147Gly) rs150594097
NM_000637.5(GSR):c.476A>T (p.Gln159Leu)
NM_000637.5(GSR):c.781A>G (p.Ile261Val)
NM_000637.5(GSR):c.815C>T (p.Ser272Leu)
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)
NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)
NM_000975.5(RPL11):c.264+3G>A
NM_000996.4(RPL35A):c.-32-2A>T
NM_000996.4(RPL35A):c.11+3A>G
NM_000996.4(RPL35A):c.16T>C (p.Trp6Arg)
NM_000996.4(RPL35A):c.309+3G>C
NM_001002010.5(NT5C3A):c.139-9048_139-9037del
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)
NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)
NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)
NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)
NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)
NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)
NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)
NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)
NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)
NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)
NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)
NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)
NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)
NM_001011.4(RPS7):c.-19+1del
NM_001011.4(RPS7):c.-19G>C
NM_001011.4(RPS7):c.157G>A (p.Val53Ile) rs144178741
NM_001011.4(RPS7):c.508G>T (p.Val170Phe)
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
NM_001022.4(RPS19):c.1-9C>T
NM_001022.4(RPS19):c.124C>T (p.His42Tyr)
NM_001029.5(RPS26):c.3+5G>C
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
NM_001114134.2(EPB42):c.10+6C>T
NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)
NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)
NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)
NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)
NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)
NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)
NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)
NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)
NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)
NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)
NM_001114134.2(EPB42):c.466A>G (p.Met156Val)
NM_001114134.2(EPB42):c.538G>C (p.Asp180His)
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)
NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)
NM_001114134.2(EPB42):c.902G>A (p.Arg301His)
NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)
NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)
NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)
NM_001353812.2(ATP11C):c.116G>A (p.Arg39Lys)
NM_001353812.2(ATP11C):c.1265T>C (p.Ile422Thr)
NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)
NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)
NM_001353812.2(ATP11C):c.1675C>G (p.Leu559Val)
NM_001353812.2(ATP11C):c.2114T>C (p.Ile705Thr)
NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)
NM_001353812.2(ATP11C):c.2353G>T (p.Val785Leu)
NM_001353812.2(ATP11C):c.2543C>T (p.Ser848Phe)
NM_001353812.2(ATP11C):c.2702C>T (p.Pro901Leu)
NM_001353812.2(ATP11C):c.2992A>G (p.Ile998Val)
NM_001353812.2(ATP11C):c.3056C>T (p.Thr1019Met)
NM_001353812.2(ATP11C):c.3063A>G (p.Ile1021Met)
NM_001353812.2(ATP11C):c.3175C>G (p.Gln1059Glu)
NM_001353812.2(ATP11C):c.354_357del (p.Asn118fs)
NM_001353812.2(ATP11C):c.995G>A (p.Arg332Gln)
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val) rs2148328385
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile) rs376569877
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)
NM_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr)
NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val)
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val) rs2149686920
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)
NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)
NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)
NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)
NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)
NM_002250.3(KCNN4):c.263T>G (p.Met88Arg)
NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)
NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)
NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)
NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)
NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)
NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)
NM_002250.3(KCNN4):c.766G>A (p.Val256Met)
NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)
NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)
NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)
NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)
NM_002250.3(KCNN4):c.970A>G (p.Met324Val)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_004629.2(FANCG):c.1144-3C>T
NM_004629.2(FANCG):c.1157C>A (p.Pro386His) rs141147618
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) rs2148589382
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) rs1376359622
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser) rs746120363
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr) rs876659058
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr) rs925044785
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu) rs772480747
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup) rs1428691401
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg) rs876658266
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala) rs189758577
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg) rs748912293
NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)
NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)
NM_032444.4(SLX4):c.678C>A (p.His226Gln) rs28516461
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
NM_033022.4(RPS24):c.149C>G (p.Thr50Ser)
NM_033022.4(RPS24):c.390+4T>C
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys) rs775619948
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
NM_138477.4(CDAN1):c.2542-3C>G rs201401533
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
NM_138477.4(CDAN1):c.2645+2dup
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu) rs146289653
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)

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