ClinVar Miner

List of variants in gene NTHL1

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Gene type:
ClinVar version:
Total variants: 1618
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.355-264A>G rs2516726 0.33796
NM_002528.7(NTHL1):c.116-17C>T rs2233518 0.01075
NM_002528.7(NTHL1):c.116-37T>C rs3211968 0.00990
NM_002528.7(NTHL1):c.355-277G>A rs3211975 0.00484
NM_002528.7(NTHL1):c.686-99G>A rs115635561 0.00468
NM_002528.7(NTHL1):c.685+123A>G rs114873327 0.00465
NM_002528.7(NTHL1):c.116-10C>G rs3211970 0.00366
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_002528.7(NTHL1):c.355-34G>A rs369651668 0.00061
NM_002528.7(NTHL1):c.355-37C>T rs3087466 0.00058
NM_002528.7(NTHL1):c.*30T>C rs371249070 0.00054
NM_002528.7(NTHL1):c.526-44G>C rs2233521 0.00048
NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr) rs147559648 0.00043
NM_002528.7(NTHL1):c.116-16G>A rs145790217 0.00033
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) rs139165943 0.00019
NM_002528.7(NTHL1):c.791+10T>G rs564181825 0.00019
NM_002528.7(NTHL1):c.115+24C>T rs758065714 0.00018
NM_002528.7(NTHL1):c.184G>A (p.Gly62Ser) rs368897948 0.00014
NM_002528.7(NTHL1):c.268A>G (p.Asn90Asp) rs141903513 0.00013
NM_002528.7(NTHL1):c.416C>T (p.Thr139Met) rs756597137 0.00013
NM_002528.7(NTHL1):c.526-11_526-10del rs764393572 0.00011
NM_002528.7(NTHL1):c.115+17G>A rs377258199 0.00010
NM_002528.7(NTHL1):c.358C>G (p.Arg120Gly) rs370228590 0.00010
NM_002528.7(NTHL1):c.44T>C (p.Leu15Pro) rs781328762 0.00010
NM_002528.7(NTHL1):c.556G>A (p.Ala186Thr) rs554393986 0.00010
NM_002528.7(NTHL1):c.672T>G (p.Thr224=) rs144204932 0.00010
NM_002528.7(NTHL1):c.877C>G (p.Leu293Val) rs200420874 0.00010
NM_002528.7(NTHL1):c.115+10C>A rs756945300 0.00009
NM_002528.7(NTHL1):c.607C>T (p.Leu203=) rs369076851 0.00009
NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg) rs373067940 0.00009
NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu) rs367629024 0.00009
NM_002528.7(NTHL1):c.489G>A (p.Thr163=) rs760491144 0.00008
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_002528.7(NTHL1):c.652A>G (p.Met218Val) rs367577861 0.00008
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.792-19C>G rs555400420 0.00008
NM_002528.7(NTHL1):c.103G>C (p.Glu35Gln) rs747272786 0.00007
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) rs3087469 0.00007
NM_002528.7(NTHL1):c.677C>T (p.Ser226Leu) rs3211977 0.00007
NM_002528.7(NTHL1):c.685+17G>A rs553209172 0.00007
NM_002528.7(NTHL1):c.764G>A (p.Arg255His) rs756036462 0.00007
NM_002528.7(NTHL1):c.85G>A (p.Gly29Arg) rs1161055704 0.00007
NM_002528.7(NTHL1):c.116-11G>T rs749856369 0.00006
NM_002528.7(NTHL1):c.29C>G (p.Thr10Ser) rs370539291 0.00006
NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) rs549760347 0.00006
NM_002528.7(NTHL1):c.455C>T (p.Thr152Met) rs756403102 0.00006
NM_002528.7(NTHL1):c.476C>T (p.Thr159Ile) rs968060928 0.00006
NM_002528.7(NTHL1):c.576C>T (p.Tyr192=) rs541989951 0.00006
NM_002528.7(NTHL1):c.831C>T (p.Phe277=) rs376251044 0.00006
NM_002528.7(NTHL1):c.-9G>A rs370913375 0.00005
NM_002528.7(NTHL1):c.150G>A (p.Pro50=) rs545609149 0.00005
NM_002528.7(NTHL1):c.170G>A (p.Arg57His) rs774831009 0.00005
NM_002528.7(NTHL1):c.285G>A (p.Arg95=) rs141911108 0.00005
NM_002528.7(NTHL1):c.421G>A (p.Gly141Ser) rs762393763 0.00005
NM_002528.7(NTHL1):c.526-16C>G rs778087002 0.00005
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_002528.7(NTHL1):c.111A>G (p.Ala37=) rs779229970 0.00004
NM_002528.7(NTHL1):c.119C>T (p.Ala40Val) rs375615004 0.00004
NM_002528.7(NTHL1):c.120G>A (p.Ala40=) rs143726834 0.00004
NM_002528.7(NTHL1):c.138C>T (p.Pro46=) rs752395301 0.00004
NM_002528.7(NTHL1):c.151C>T (p.Arg51Trp) rs376907606 0.00004
NM_002528.7(NTHL1):c.188C>T (p.Ser63Leu) rs746458904 0.00004
NM_002528.7(NTHL1):c.222C>G (p.Leu74=) rs778667153 0.00004
NM_002528.7(NTHL1):c.257A>G (p.Gln86Arg) rs369262985 0.00004
NM_002528.7(NTHL1):c.348C>A (p.Pro116=) rs145185932 0.00004
NM_002528.7(NTHL1):c.354+4G>T rs771353497 0.00004
NM_002528.7(NTHL1):c.355-20C>T rs372232458 0.00004
NM_002528.7(NTHL1):c.444G>A (p.Ala148=) rs145366761 0.00004
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) rs376048896 0.00004
NM_002528.7(NTHL1):c.483T>C (p.Asp161=) rs112724577 0.00004
NM_002528.7(NTHL1):c.71G>A (p.Cys24Tyr) rs1034291686 0.00004
NM_002528.7(NTHL1):c.765C>T (p.Arg255=) rs902599622 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_002528.7(NTHL1):c.871G>A (p.Ala291Thr) rs763568491 0.00004
NM_002528.7(NTHL1):c.897G>A (p.Pro299=) rs773331581 0.00004
NM_002528.7(NTHL1):c.9C>T (p.Ala3=) rs765855021 0.00004
NM_002528.7(NTHL1):c.115+14G>A rs751231422 0.00003
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_002528.7(NTHL1):c.176C>T (p.Ala59Val) rs749810824 0.00003
NM_002528.7(NTHL1):c.273C>T (p.Ile91=) rs751900193 0.00003
NM_002528.7(NTHL1):c.298G>A (p.Ala100Thr) rs772576699 0.00003
NM_002528.7(NTHL1):c.334G>A (p.Asp112Asn) rs1000576492 0.00003
NM_002528.7(NTHL1):c.338C>G (p.Ser113Cys) rs375347841 0.00003
NM_002528.7(NTHL1):c.344C>T (p.Ala115Val) rs745986873 0.00003
NM_002528.7(NTHL1):c.345C>T (p.Ala115=) rs781125710 0.00003
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter) rs371328106 0.00003
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln) rs150437839 0.00003
NM_002528.7(NTHL1):c.456G>A (p.Thr152=) rs750798417 0.00003
NM_002528.7(NTHL1):c.510C>T (p.Pro170=) rs201980301 0.00003
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) rs200007034 0.00003
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter) rs919177150 0.00003
NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu) rs755619109 0.00003
NM_002528.7(NTHL1):c.685+13G>C rs762269750 0.00003
NM_002528.7(NTHL1):c.686-7C>G rs529341502 0.00003
NM_002528.7(NTHL1):c.766G>A (p.Ala256Thr) rs2233522 0.00003
NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser) rs753350404 0.00003
NM_002528.7(NTHL1):c.888C>A (p.Ala296=) rs939564399 0.00003
NM_002528.7(NTHL1):c.104A>G (p.Glu35Gly) rs778185523 0.00002
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002528.7(NTHL1):c.115+4G>T rs780886475 0.00002
NM_002528.7(NTHL1):c.115+6G>A rs1036098566 0.00002
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) rs930166212 0.00002
NM_002528.7(NTHL1):c.242C>T (p.Pro81Leu) rs753642509 0.00002
NM_002528.7(NTHL1):c.252G>C (p.Trp84Cys) rs372698989 0.00002
NM_002528.7(NTHL1):c.332A>G (p.Tyr111Cys) rs138812334 0.00002
NM_002528.7(NTHL1):c.346C>A (p.Pro116Thr) rs143696592 0.00002
NM_002528.7(NTHL1):c.434G>A (p.Arg145Gln) rs746940807 0.00002
NM_002528.7(NTHL1):c.513C>T (p.Val171=) rs140211154 0.00002
NM_002528.7(NTHL1):c.51C>T (p.Pro17=) rs370814682 0.00002
NM_002528.7(NTHL1):c.526-11C>T rs947582986 0.00002
NM_002528.7(NTHL1):c.615G>A (p.Ala205=) rs779702263 0.00002
NM_002528.7(NTHL1):c.686-18C>T rs995139097 0.00002
NM_002528.7(NTHL1):c.696G>A (p.Thr232=) rs560239348 0.00002
NM_002528.7(NTHL1):c.6C>G (p.Thr2=) rs758854228 0.00002
NM_002528.7(NTHL1):c.731C>G (p.Thr244Ser) rs145312239 0.00002
NM_002528.7(NTHL1):c.791+1G>A rs374616565 0.00002
NM_002528.7(NTHL1):c.802C>T (p.His268Tyr) rs144556130 0.00002
NM_002528.7(NTHL1):c.80A>G (p.Glu27Gly) rs762937286 0.00002
NM_002528.7(NTHL1):c.813T>C (p.Asn271=) rs1057034087 0.00002
NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser) rs139309757 0.00002
NM_002528.7(NTHL1):c.858C>T (p.His286=) rs755275050 0.00002
NM_002528.7(NTHL1):c.863G>A (p.Arg288His) rs148253565 0.00002
NM_002528.7(NTHL1):c.-15C>T rs1474892742 0.00001
NM_002528.7(NTHL1):c.-1C>T rs532310992 0.00001
NM_002528.7(NTHL1):c.101G>A (p.Arg34Lys) rs1388213392 0.00001
NM_002528.7(NTHL1):c.102A>T (p.Arg34Ser) rs527315265 0.00001
NM_002528.7(NTHL1):c.107C>G (p.Ala36Gly) rs772384035 0.00001
NM_002528.7(NTHL1):c.115+15T>C rs1438462968 0.00001
NM_002528.7(NTHL1):c.115+19T>G rs1320223668 0.00001
NM_002528.7(NTHL1):c.115G>C (p.Glu39Gln) rs1274541982 0.00001
NM_002528.7(NTHL1):c.116-3C>T rs370654050 0.00001
NM_002528.7(NTHL1):c.116-9T>C rs1596223613 0.00001
NM_002528.7(NTHL1):c.129C>T (p.Ser43=) rs1004057524 0.00001
NM_002528.7(NTHL1):c.139G>A (p.Val47Met) rs1210160367 0.00001
NM_002528.7(NTHL1):c.141G>A (p.Val47=) rs765058195 0.00001
NM_002528.7(NTHL1):c.145C>T (p.Arg49Cys) rs371105614 0.00001
NM_002528.7(NTHL1):c.146G>A (p.Arg49His) rs566254536 0.00001
NM_002528.7(NTHL1):c.14G>A (p.Ser5Asn) rs750166500 0.00001
NM_002528.7(NTHL1):c.174G>A (p.Val58=) rs769199407 0.00001
NM_002528.7(NTHL1):c.177C>T (p.Ala59=) rs1247133735 0.00001
NM_002528.7(NTHL1):c.17C>A (p.Ala6Glu) rs767282292 0.00001
NM_002528.7(NTHL1):c.17C>T (p.Ala6Val) rs767282292 0.00001
NM_002528.7(NTHL1):c.181G>A (p.Glu61Lys) rs1429511641 0.00001
NM_002528.7(NTHL1):c.18G>T (p.Ala6=) rs1471979192 0.00001
NM_002528.7(NTHL1):c.216G>A (p.Glu72=) rs1226069436 0.00001
NM_002528.7(NTHL1):c.224A>G (p.Lys75Arg) rs2084376094 0.00001
NM_002528.7(NTHL1):c.225G>C (p.Lys75Asn) rs1432630427 0.00001
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter) rs2084372140 0.00001
NM_002528.7(NTHL1):c.258A>G (p.Gln86=) rs2084371810 0.00001
NM_002528.7(NTHL1):c.277G>A (p.Ala93Thr) rs776024837 0.00001
NM_002528.7(NTHL1):c.282G>C (p.Met94Ile) rs1276674075 0.00001
NM_002528.7(NTHL1):c.295G>A (p.Asp99Asn) rs760130778 0.00001
NM_002528.7(NTHL1):c.296A>C (p.Asp99Ala) rs959911360 0.00001
NM_002528.7(NTHL1):c.304G>A (p.Val102Met) rs1333635641 0.00001
NM_002528.7(NTHL1):c.306G>A (p.Val102=) rs1392029559 0.00001
NM_002528.7(NTHL1):c.30C>G (p.Thr10=) rs1036151129 0.00001
NM_002528.7(NTHL1):c.310C>T (p.His104Tyr) rs1306653290 0.00001
NM_002528.7(NTHL1):c.32G>A (p.Arg11Gln) rs372992221 0.00001
NM_002528.7(NTHL1):c.354+16_354+19dup rs761177500 0.00001
NM_002528.7(NTHL1):c.354+20G>A rs1409660372 0.00001
NM_002528.7(NTHL1):c.355-11T>G rs775138715 0.00001
NM_002528.7(NTHL1):c.355-7C>T rs769348183 0.00001
NM_002528.7(NTHL1):c.373C>A (p.Leu125Met) rs1397440217 0.00001
NM_002528.7(NTHL1):c.377T>A (p.Leu126Gln) rs1366983655 0.00001
NM_002528.7(NTHL1):c.380C>T (p.Ser127Leu) rs757412628 0.00001
NM_002528.7(NTHL1):c.382C>A (p.Leu128Met) rs1433716256 0.00001
NM_002528.7(NTHL1):c.388C>G (p.Leu130Val) rs1177580110 0.00001
NM_002528.7(NTHL1):c.395G>C (p.Ser132Thr) rs377360166 0.00001
NM_002528.7(NTHL1):c.402C>G (p.Thr134=) rs1169048585 0.00001
NM_002528.7(NTHL1):c.408C>T (p.Asp136=) rs1451036395 0.00001
NM_002528.7(NTHL1):c.417G>A (p.Thr139=) rs1044127089 0.00001
NM_002528.7(NTHL1):c.419C>T (p.Ala140Val) rs750992242 0.00001
NM_002528.7(NTHL1):c.41G>A (p.Ser14Asn) rs746090969 0.00001
NM_002528.7(NTHL1):c.420G>A (p.Ala140=) rs768014084 0.00001
NM_002528.7(NTHL1):c.423C>T (p.Gly141=) rs774887697 0.00001
NM_002528.7(NTHL1):c.424G>A (p.Ala142Thr) rs764907191 0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter) rs374489979 0.00001
NM_002528.7(NTHL1):c.438G>A (p.Leu146=) rs201521100 0.00001
NM_002528.7(NTHL1):c.439C>T (p.Arg147Trp) rs1200691336 0.00001
NM_002528.7(NTHL1):c.43C>G (p.Leu15Val) rs931865828 0.00001
NM_002528.7(NTHL1):c.43C>T (p.Leu15=) rs931865828 0.00001
NM_002528.7(NTHL1):c.440G>A (p.Arg147Gln) rs1431434201 0.00001
NM_002528.7(NTHL1):c.443C>T (p.Ala148Val) rs748576083 0.00001
NM_002528.7(NTHL1):c.463A>G (p.Ser155Gly) rs1322013727 0.00001
NM_002528.7(NTHL1):c.46G>C (p.Gly16Arg) rs1271271380 0.00001
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter) rs1198246754 0.00001
NM_002528.7(NTHL1):c.47G>C (p.Gly16Ala) rs747325774 0.00001
NM_002528.7(NTHL1):c.486C>T (p.Ala162=) rs201515357 0.00001
NM_002528.7(NTHL1):c.488C>T (p.Thr163Met) rs766136810 0.00001
NM_002528.7(NTHL1):c.491T>C (p.Leu164Pro) rs1162857718 0.00001
NM_002528.7(NTHL1):c.492G>A (p.Leu164=) rs1241018958 0.00001
NM_002528.7(NTHL1):c.498G>A (p.Lys166=) rs2084316738 0.00001
NM_002528.7(NTHL1):c.499C>T (p.Leu167Phe) rs772100661 0.00001
NM_002528.7(NTHL1):c.4A>C (p.Thr2Pro) rs1346158495 0.00001
NM_002528.7(NTHL1):c.519C>T (p.Phe173=) rs1401228518 0.00001
NM_002528.7(NTHL1):c.525+14G>A rs950917950 0.00001
NM_002528.7(NTHL1):c.525G>A (p.Arg175=) rs746192138 0.00001
NM_002528.7(NTHL1):c.526-10T>A rs199771569 0.00001
NM_002528.7(NTHL1):c.526-13C>T rs758969794 0.00001
NM_002528.7(NTHL1):c.526-8T>C rs1450416555 0.00001
NM_002528.7(NTHL1):c.540C>T (p.Tyr180=) rs750162495 0.00001
NM_002528.7(NTHL1):c.551C>G (p.Thr184Ser) rs1243274364 0.00001
NM_002528.7(NTHL1):c.555C>T (p.Ser185=) rs756943656 0.00001
NM_002528.7(NTHL1):c.560T>C (p.Ile187Thr) rs1339505198 0.00001
NM_002528.7(NTHL1):c.583G>A (p.Asp195Asn) rs765358651 0.00001
NM_002528.7(NTHL1):c.58G>A (p.Gly20Arg) rs529997128 0.00001
NM_002528.7(NTHL1):c.590C>T (p.Pro197Leu) rs2084299761 0.00001
NM_002528.7(NTHL1):c.594C>G (p.Ala198=) rs1372740198 0.00001
NM_002528.7(NTHL1):c.603C>T (p.Ala201=) rs747289981 0.00001
NM_002528.7(NTHL1):c.60G>T (p.Gly20=) rs1156299739 0.00001
NM_002528.7(NTHL1):c.613G>A (p.Ala205Thr) rs772432408 0.00001
NM_002528.7(NTHL1):c.614C>T (p.Ala205Val) rs748719278 0.00001
NM_002528.7(NTHL1):c.621G>A (p.Pro207=) rs745383145 0.00001
NM_002528.7(NTHL1):c.625G>A (p.Val209Ile) rs780658029 0.00001
NM_002528.7(NTHL1):c.631C>T (p.Pro211Ser) rs2084298478 0.00001
NM_002528.7(NTHL1):c.637A>G (p.Met213Val) rs756963327 0.00001
NM_002528.7(NTHL1):c.63G>A (p.Pro21=) rs1020317766 0.00001
NM_002528.7(NTHL1):c.649G>A (p.Ala217Thr) rs758319892 0.00001
NM_002528.7(NTHL1):c.655G>C (p.Ala219Pro) rs1596219284 0.00001
NM_002528.7(NTHL1):c.669C>T (p.Gly223=) rs2084297867 0.00001
NM_002528.7(NTHL1):c.66G>C (p.Arg22=) rs755616986 0.00001
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) rs1055874267 0.00001
NM_002528.7(NTHL1):c.685+16C>T rs774941231 0.00001
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002528.7(NTHL1):c.685+20G>A rs879107795 0.00001
NM_002528.7(NTHL1):c.685+8G>C rs772628458 0.00001
NM_002528.7(NTHL1):c.686-15T>C rs753877022 0.00001
NM_002528.7(NTHL1):c.686-4G>A rs1285427476 0.00001
NM_002528.7(NTHL1):c.68G>T (p.Gly23Val) rs749963973 0.00001
NM_002528.7(NTHL1):c.690G>A (p.Val230=) rs756156987 0.00001
NM_002528.7(NTHL1):c.695C>T (p.Thr232Met) rs1308474938 0.00001
NM_002528.7(NTHL1):c.69G>T (p.Gly23=) rs767225352 0.00001
NM_002528.7(NTHL1):c.703C>T (p.His235Tyr) rs1169959065 0.00001
NM_002528.7(NTHL1):c.711C>T (p.Ile237=) rs751951515 0.00001
NM_002528.7(NTHL1):c.713C>T (p.Ala238Val) rs1185854795 0.00001
NM_002528.7(NTHL1):c.717C>T (p.Asn239=) rs1475205147 0.00001
NM_002528.7(NTHL1):c.73A>G (p.Arg25Gly) rs369039003 0.00001
NM_002528.7(NTHL1):c.751C>G (p.Pro251Ala) rs367765503 0.00001
NM_002528.7(NTHL1):c.752C>T (p.Pro251Leu) rs1437503034 0.00001
NM_002528.7(NTHL1):c.75G>A (p.Arg25=) rs1274325491 0.00001
NM_002528.7(NTHL1):c.75G>C (p.Arg25Ser) rs1274325491 0.00001
NM_002528.7(NTHL1):c.784C>G (p.Leu262Val) rs1252431964 0.00001
NM_002528.7(NTHL1):c.791+12T>C rs1420065748 0.00001
NM_002528.7(NTHL1):c.791+13G>A rs773931134 0.00001
NM_002528.7(NTHL1):c.791+14G>A rs1424497453 0.00001
NM_002528.7(NTHL1):c.792-6C>G rs766881122 0.00001
NM_002528.7(NTHL1):c.792-9C>T rs200714075 0.00001
NM_002528.7(NTHL1):c.795del (p.Glu265fs) rs1173366565 0.00001
NM_002528.7(NTHL1):c.805G>A (p.Glu269Lys) rs895744368 0.00001
NM_002528.7(NTHL1):c.806A>T (p.Glu269Val) rs369032190 0.00001
NM_002528.7(NTHL1):c.811A>T (p.Asn271Tyr) rs1376479687 0.00001
NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser) rs149287105 0.00001
NM_002528.7(NTHL1):c.819C>T (p.Leu273=) rs769544798 0.00001
NM_002528.7(NTHL1):c.81G>A (p.Glu27=) rs1596227883 0.00001
NM_002528.7(NTHL1):c.834C>T (p.Gly278=) rs747049346 0.00001
NM_002528.7(NTHL1):c.842C>A (p.Thr281Asn) rs748379588 0.00001
NM_002528.7(NTHL1):c.843C>A (p.Thr281=) rs779198160 0.00001
NM_002528.7(NTHL1):c.860C>G (p.Pro287Arg) rs754220493 0.00001
NM_002528.7(NTHL1):c.870C>T (p.His290=) rs751057369 0.00001
NM_002528.7(NTHL1):c.87G>A (p.Gly29=) rs775360403 0.00001
NM_002528.7(NTHL1):c.882C>G (p.Asn294Lys) rs759356343 0.00001
NM_002528.7(NTHL1):c.88C>G (p.Pro30Ala) rs541004726 0.00001
NM_002528.7(NTHL1):c.89C>G (p.Pro30Arg) rs759555861 0.00001
NM_002528.7(NTHL1):c.89C>T (p.Pro30Leu) rs759555861 0.00001
NM_002528.7(NTHL1):c.900C>T (p.Ala300=) rs569494714 0.00001
NM_002528.7(NTHL1):c.901G>A (p.Ala301Thr) rs1337853224 0.00001
NM_002528.7(NTHL1):c.906G>A (p.Gln302=) rs1218521260 0.00001
NM_002528.7(NTHL1):c.907G>C (p.Gly303Arg) rs375024045 0.00001
NM_002528.7(NTHL1):c.91C>T (p.Leu31Phe) rs1259870849 0.00001
NM_002528.7(NTHL1):c.93C>T (p.Leu31=) rs1171088713 0.00001
NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp) rs1285624591 0.00001
NM_002528.7(NTHL1):c.98G>A (p.Arg33Lys) rs1421779919 0.00001
NC_000016.10:g.(?_2039924)_(2040248_?)dup
NC_000016.10:g.(?_2043557)_(2044810_?)del
NC_000016.10:g.2047835G>A rs1179131194
NC_000016.9:g.(?_2089925)_(2090249_?)del
NC_000016.9:g.(?_2089925)_(2093737_?)del
NC_000016.9:g.(?_2089925)_(2094811_?)del
NC_000016.9:g.(?_2089925)_(2094811_?)dup
NC_000016.9:g.(?_2093548)_(2096387_?)del
NC_000016.9:g.(?_2093854)_(2096278_?)del
NM_002528.6(NTHL1):c.11C>G (p.Pro4Arg)
NM_002528.6(NTHL1):c.12G>C (p.Pro4=)
NM_002528.6(NTHL1):c.12G>T (p.Pro4=)
NM_002528.7(NTHL1):c.*19C>T
NM_002528.7(NTHL1):c.*28G>T
NM_002528.7(NTHL1):c.*31G>A
NM_002528.7(NTHL1):c.*5C>T
NM_002528.7(NTHL1):c.*6G>T rs749620192
NM_002528.7(NTHL1):c.-10G>A
NM_002528.7(NTHL1):c.-10G>T
NM_002528.7(NTHL1):c.-11A>G rs756332498
NM_002528.7(NTHL1):c.-11A>T rs756332498
NM_002528.7(NTHL1):c.-2G>A
NM_002528.7(NTHL1):c.-2G>C
NM_002528.7(NTHL1):c.-3G>A rs751927624
NM_002528.7(NTHL1):c.-3G>C rs751927624
NM_002528.7(NTHL1):c.-3G>T rs751927624
NM_002528.7(NTHL1):c.-4C>T
NM_002528.7(NTHL1):c.-5C>G rs552723791
NM_002528.7(NTHL1):c.-5C>T
NM_002528.7(NTHL1):c.-6T>C
NM_002528.7(NTHL1):c.-6T>G
NM_002528.7(NTHL1):c.-7G>A rs2084532028
NM_002528.7(NTHL1):c.-7G>C
NM_002528.7(NTHL1):c.-7G>T rs2084532028
NM_002528.7(NTHL1):c.-8A>C rs566165031
NM_002528.7(NTHL1):c.-8A>G
NM_002528.7(NTHL1):c.-8A>T rs566165031
NM_002528.7(NTHL1):c.-9G>T
NM_002528.7(NTHL1):c.100A>C (p.Arg34=) rs1596227748
NM_002528.7(NTHL1):c.100A>G (p.Arg34Gly)
NM_002528.7(NTHL1):c.103G>A (p.Glu35Lys) rs747272786
NM_002528.7(NTHL1):c.105G>A (p.Glu35=) rs1596227700
NM_002528.7(NTHL1):c.105G>C (p.Glu35Asp) rs1596227700
NM_002528.7(NTHL1):c.106G>A (p.Ala36Thr)
NM_002528.7(NTHL1):c.106G>T (p.Ala36Ser) rs2150957402
NM_002528.7(NTHL1):c.107C>A (p.Ala36Asp) rs772384035
NM_002528.7(NTHL1):c.108T>A (p.Ala36=)
NM_002528.7(NTHL1):c.108T>G (p.Ala36=) rs2150957361
NM_002528.7(NTHL1):c.109G>A (p.Ala37Thr)
NM_002528.7(NTHL1):c.10T>A (p.Leu4Met)
NM_002528.7(NTHL1):c.10T>C (p.Leu4=)
NM_002528.7(NTHL1):c.10T>G (p.Leu4Val)
NM_002528.7(NTHL1):c.110C>T (p.Ala37Val) rs1482983792
NM_002528.7(NTHL1):c.113C>G (p.Ala38Gly) rs202082304
NM_002528.7(NTHL1):c.114A>C (p.Ala38=)
NM_002528.7(NTHL1):c.115+10C>T rs756945300
NM_002528.7(NTHL1):c.115+11G>A
NM_002528.7(NTHL1):c.115+13C>T
NM_002528.7(NTHL1):c.115+16G>C
NM_002528.7(NTHL1):c.115+17G>C
NM_002528.7(NTHL1):c.115+19T>A
NM_002528.7(NTHL1):c.115+20G>A
NM_002528.7(NTHL1):c.115+2T>G
NM_002528.7(NTHL1):c.115+3A>G
NM_002528.7(NTHL1):c.115+4G>A rs780886475
NM_002528.7(NTHL1):c.115+5C>A
NM_002528.7(NTHL1):c.115+5C>T
NM_002528.7(NTHL1):c.115+6G>C rs1036098566
NM_002528.7(NTHL1):c.115+6G>T
NM_002528.7(NTHL1):c.115+7C>T rs2150957149
NM_002528.7(NTHL1):c.115+8C>A
NM_002528.7(NTHL1):c.115+8C>G rs2150957124
NM_002528.7(NTHL1):c.115+9G>A rs1393884097
NM_002528.7(NTHL1):c.115+9G>T rs1393884097
NM_002528.7(NTHL1):c.116-10C>T rs3211970
NM_002528.7(NTHL1):c.116-10dup rs1161474192
NM_002528.7(NTHL1):c.116-11G>A rs749856369
NM_002528.7(NTHL1):c.116-11_116-6dup
NM_002528.7(NTHL1):c.116-12T>C rs2150947945
NM_002528.7(NTHL1):c.116-13G>A
NM_002528.7(NTHL1):c.116-13G>C
NM_002528.7(NTHL1):c.116-13G>T rs2084389434
NM_002528.7(NTHL1):c.116-13_172del rs2150947077
NM_002528.7(NTHL1):c.116-17C>A
NM_002528.7(NTHL1):c.116-17C>G
NM_002528.7(NTHL1):c.116-18G>A
NM_002528.7(NTHL1):c.116-18G>C
NM_002528.7(NTHL1):c.116-19T>C
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.116-1_116delinsCT rs2084387940
NM_002528.7(NTHL1):c.116-20C>A rs2150948042
NM_002528.7(NTHL1):c.116-20C>G
NM_002528.7(NTHL1):c.116-20C>T
NM_002528.7(NTHL1):c.116-2A>C
NM_002528.7(NTHL1):c.116-2A>G
NM_002528.7(NTHL1):c.116-31C>A
NM_002528.7(NTHL1):c.116-5T>C
NM_002528.7(NTHL1):c.116-5del
NM_002528.7(NTHL1):c.116-7T>C
NM_002528.7(NTHL1):c.116-9T>A rs1596223613
NM_002528.7(NTHL1):c.116-9T>G
NM_002528.7(NTHL1):c.116-9dup rs1596223593
NM_002528.7(NTHL1):c.116A>C (p.Glu39Ala) rs2084387796
NM_002528.7(NTHL1):c.117A>C (p.Glu39Asp)
NM_002528.7(NTHL1):c.118G>A (p.Ala40Thr)
NM_002528.7(NTHL1):c.118G>T (p.Ala40Ser) rs2084387662
NM_002528.7(NTHL1):c.119C>A (p.Ala40Glu)
NM_002528.7(NTHL1):c.119C>G (p.Ala40Gly)
NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter) rs1413587495
NM_002528.7(NTHL1):c.11T>G (p.Leu4Trp)
NM_002528.7(NTHL1):c.120G>C (p.Ala40=)
NM_002528.7(NTHL1):c.120G>T (p.Ala40=)
NM_002528.7(NTHL1):c.123G>A (p.Arg41=) rs2084387412
NM_002528.7(NTHL1):c.123G>C (p.Arg41Ser)
NM_002528.7(NTHL1):c.123G>T (p.Arg41Ser) rs2084387412
NM_002528.7(NTHL1):c.126A>T (p.Lys42Asn) rs1015408170
NM_002528.7(NTHL1):c.127A>C (p.Ser43Arg)
NM_002528.7(NTHL1):c.129C>G (p.Ser43Arg) rs1004057524
NM_002528.7(NTHL1):c.12G>A (p.Leu4=)
NM_002528.7(NTHL1):c.12G>C (p.Leu4Phe) rs2084530050
NM_002528.7(NTHL1):c.130C>A (p.His44Asn)
NM_002528.7(NTHL1):c.130C>G (p.His44Asp) rs374988261
NM_002528.7(NTHL1):c.130C>T (p.His44Tyr) rs374988261
NM_002528.7(NTHL1):c.131A>C (p.His44Pro)
NM_002528.7(NTHL1):c.131A>G (p.His44Arg) rs923173693
NM_002528.7(NTHL1):c.132C>A (p.His44Gln)
NM_002528.7(NTHL1):c.132C>T (p.His44=)
NM_002528.7(NTHL1):c.133A>G (p.Ser45Gly)
NM_002528.7(NTHL1):c.134G>A (p.Ser45Asn)
NM_002528.7(NTHL1):c.135C>G (p.Ser45Arg)
NM_002528.7(NTHL1):c.135C>T (p.Ser45=) rs2150947604
NM_002528.7(NTHL1):c.136C>A (p.Pro46Thr)
NM_002528.7(NTHL1):c.136C>T (p.Pro46Ser) rs2150947586
NM_002528.7(NTHL1):c.137C>T (p.Pro46Leu) rs2150947574
NM_002528.7(NTHL1):c.138C>A (p.Pro46=)
NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)
NM_002528.7(NTHL1):c.139G>C (p.Val47Leu)
NM_002528.7(NTHL1):c.139G>T (p.Val47Leu)
NM_002528.7(NTHL1):c.140del (p.Val47fs)
NM_002528.7(NTHL1):c.142A>C (p.Lys48Gln)
NM_002528.7(NTHL1):c.142A>G (p.Lys48Glu) rs2150947503
NM_002528.7(NTHL1):c.143A>G (p.Lys48Arg) rs2084385937
NM_002528.7(NTHL1):c.144G>A (p.Lys48=)
NM_002528.7(NTHL1):c.145C>A (p.Arg49Ser)
NM_002528.7(NTHL1):c.148C>T (p.Pro50Ser)
NM_002528.7(NTHL1):c.14G>C (p.Ser5Thr) rs750166500
NM_002528.7(NTHL1):c.150G>C (p.Pro50=)
NM_002528.7(NTHL1):c.151C>G (p.Arg51Gly)
NM_002528.7(NTHL1):c.152G>A (p.Arg51Gln) rs773364076
NM_002528.7(NTHL1):c.152G>C (p.Arg51Pro)
NM_002528.7(NTHL1):c.152G>T (p.Arg51Leu) rs773364076
NM_002528.7(NTHL1):c.155A>C (p.Lys52Thr)
NM_002528.7(NTHL1):c.155A>T (p.Lys52Ile)
NM_002528.7(NTHL1):c.156A>C (p.Lys52Asn)
NM_002528.7(NTHL1):c.156A>G (p.Lys52=) rs2150947326
NM_002528.7(NTHL1):c.157G>C (p.Ala53Pro)
NM_002528.7(NTHL1):c.159A>G (p.Ala53=) rs2150947277
NM_002528.7(NTHL1):c.15C>A (p.Ser5Arg) rs1596228346
NM_002528.7(NTHL1):c.15C>G (p.Ser5Arg) rs1596228346
NM_002528.7(NTHL1):c.15C>T (p.Ser5=) rs1596228346
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter) rs1596223384
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs) rs2150947238
NM_002528.7(NTHL1):c.161dup (p.Arg55fs) rs2150947218
NM_002528.7(NTHL1):c.162G>T (p.Gln54His)
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs) rs1290880136
NM_002528.7(NTHL1):c.165A>T (p.Arg55Ser)
NM_002528.7(NTHL1):c.167T>C (p.Leu56Pro) rs1356728287
NM_002528.7(NTHL1):c.167_168del (p.Leu56fs)
NM_002528.7(NTHL1):c.168G>A (p.Leu56=) rs2150947154
NM_002528.7(NTHL1):c.16G>C (p.Ala6Pro)
NM_002528.7(NTHL1):c.16G>T (p.Ala6Ser)
NM_002528.7(NTHL1):c.170G>C (p.Arg57Pro) rs774831009
NM_002528.7(NTHL1):c.170G>T (p.Arg57Leu) rs774831009
NM_002528.7(NTHL1):c.171T>C (p.Arg57=) rs2150947100
NM_002528.7(NTHL1):c.172G>A (p.Val58Met) rs1177326558
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu) rs1177326558
NM_002528.7(NTHL1):c.172_175del (p.Val58fs) rs2150947033
NM_002528.7(NTHL1):c.174G>T (p.Val58=)
NM_002528.7(NTHL1):c.175G>A (p.Ala59Thr)
NM_002528.7(NTHL1):c.177C>A (p.Ala59=) rs1247133735
NM_002528.7(NTHL1):c.178T>C (p.Tyr60His) rs2084381789
NM_002528.7(NTHL1):c.179A>C (p.Tyr60Ser)
NM_002528.7(NTHL1):c.179A>G (p.Tyr60Cys) rs776076209
NM_002528.7(NTHL1):c.17C>G (p.Ala6Gly) rs767282292
NM_002528.7(NTHL1):c.181G>C (p.Glu61Gln) rs1429511641
NM_002528.7(NTHL1):c.182A>C (p.Glu61Ala)
NM_002528.7(NTHL1):c.182A>G (p.Glu61Gly) rs2084381041
NM_002528.7(NTHL1):c.183G>A (p.Glu61=) rs1596223267
NM_002528.7(NTHL1):c.183G>C (p.Glu61Asp) rs1596223267
NM_002528.7(NTHL1):c.184G>T (p.Gly62Cys)
NM_002528.7(NTHL1):c.185G>C (p.Gly62Ala)
NM_002528.7(NTHL1):c.185G>T (p.Gly62Val)
NM_002528.7(NTHL1):c.185del (p.Gly62fs)
NM_002528.7(NTHL1):c.186C>G (p.Gly62=) rs944269320
NM_002528.7(NTHL1):c.186C>T (p.Gly62=) rs944269320
NM_002528.7(NTHL1):c.187T>G (p.Ser63Ala) rs2084380096
NM_002528.7(NTHL1):c.188C>G (p.Ser63Trp) rs746458904
NM_002528.7(NTHL1):c.189G>A (p.Ser63=) rs757957149
NM_002528.7(NTHL1):c.189G>C (p.Ser63=) rs757957149
NM_002528.7(NTHL1):c.18G>A (p.Ala6=) rs1471979192
NM_002528.7(NTHL1):c.190G>C (p.Asp64His)
NM_002528.7(NTHL1):c.190G>T (p.Asp64Tyr)
NM_002528.7(NTHL1):c.192C>A (p.Asp64Glu)
NM_002528.7(NTHL1):c.192C>G (p.Asp64Glu) rs2084379378
NM_002528.7(NTHL1):c.193A>C (p.Ser65Arg)
NM_002528.7(NTHL1):c.193A>G (p.Ser65Gly) rs1596223211
NM_002528.7(NTHL1):c.194G>A (p.Ser65Asn) rs747885276
NM_002528.7(NTHL1):c.194G>C (p.Ser65Thr)
NM_002528.7(NTHL1):c.196G>A (p.Glu66Lys) rs2150946772
NM_002528.7(NTHL1):c.198G>A (p.Glu66=)
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
NM_002528.7(NTHL1):c.199_284del (p.Lys67fs)
NM_002528.7(NTHL1):c.19A>G (p.Arg7Gly)
NM_002528.7(NTHL1):c.1A>C (p.Met1Leu)
NM_002528.7(NTHL1):c.1A>G (p.Met1Val) rs1277993259
NM_002528.7(NTHL1):c.1A>T (p.Met1Leu) rs1277993259
NM_002528.7(NTHL1):c.201A>C (p.Lys67Asn) rs2084378720
NM_002528.7(NTHL1):c.201A>G (p.Lys67=)
NM_002528.7(NTHL1):c.202G>A (p.Gly68Ser)
NM_002528.7(NTHL1):c.203G>A (p.Gly68Asp) rs1346428624
NM_002528.7(NTHL1):c.203del (p.Gly68fs) rs1555492819
NM_002528.7(NTHL1):c.204T>C (p.Gly68=)
NM_002528.7(NTHL1):c.206A>T (p.Glu69Val)
NM_002528.7(NTHL1):c.207G>A (p.Glu69=) rs2150946712
NM_002528.7(NTHL1):c.207G>C (p.Glu69Asp) rs2150946712
NM_002528.7(NTHL1):c.208G>A (p.Gly70Arg)
NM_002528.7(NTHL1):c.208G>C (p.Gly70Arg)
NM_002528.7(NTHL1):c.208G>T (p.Gly70Trp) rs2084378096
NM_002528.7(NTHL1):c.209G>A (p.Gly70Glu) rs1422162562
NM_002528.7(NTHL1):c.209G>T (p.Gly70Val)
NM_002528.7(NTHL1):c.20G>A (p.Arg7Lys) rs930166212
NM_002528.7(NTHL1):c.20_21delinsCA (p.Arg7Thr) rs2084528877
NM_002528.7(NTHL1):c.210G>A (p.Gly70=) rs1294880190
NM_002528.7(NTHL1):c.210G>T (p.Gly70=)
NM_002528.7(NTHL1):c.211G>A (p.Ala71Thr)
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002528.7(NTHL1):c.212C>T (p.Ala71Val)
NM_002528.7(NTHL1):c.212del (p.Ala71fs)
NM_002528.7(NTHL1):c.213T>C (p.Ala71=)
NM_002528.7(NTHL1):c.213T>G (p.Ala71=)
NM_002528.7(NTHL1):c.214G>A (p.Glu72Lys) rs1596223150
NM_002528.7(NTHL1):c.215A>C (p.Glu72Ala)
NM_002528.7(NTHL1):c.215A>G (p.Glu72Gly) rs1232383882
NM_002528.7(NTHL1):c.216G>C (p.Glu72Asp)
NM_002528.7(NTHL1):c.216G>T (p.Glu72Asp)
NM_002528.7(NTHL1):c.216_217delinsTT (p.Glu72_Pro73delinsAspSer)
NM_002528.7(NTHL1):c.216del (p.Glu72fs)
NM_002528.7(NTHL1):c.217C>A (p.Pro73Thr)
NM_002528.7(NTHL1):c.217C>T (p.Pro73Ser)
NM_002528.7(NTHL1):c.218C>A (p.Pro73His) rs1326931608
NM_002528.7(NTHL1):c.218C>G (p.Pro73Arg) rs1326931608
NM_002528.7(NTHL1):c.218C>T (p.Pro73Leu) rs1326931608
NM_002528.7(NTHL1):c.219C>T (p.Pro73=)
NM_002528.7(NTHL1):c.21G>A (p.Arg7=) rs762030002
NM_002528.7(NTHL1):c.21G>C (p.Arg7Ser) rs762030002
NM_002528.7(NTHL1):c.21G>T (p.Arg7Ser) rs762030002
NM_002528.7(NTHL1):c.220C>T (p.Leu74Phe) rs2150946533
NM_002528.7(NTHL1):c.223A>C (p.Lys75Gln)
NM_002528.7(NTHL1):c.223A>T (p.Lys75Ter)
NM_002528.7(NTHL1):c.224A>C (p.Lys75Thr) rs2084376094
NM_002528.7(NTHL1):c.225G>A (p.Lys75=)
NM_002528.7(NTHL1):c.225G>T (p.Lys75Asn) rs1432630427
NM_002528.7(NTHL1):c.226del (p.Val76fs)
NM_002528.7(NTHL1):c.229C>A (p.Pro77Thr)
NM_002528.7(NTHL1):c.229C>G (p.Pro77Ala)
NM_002528.7(NTHL1):c.229C>T (p.Pro77Ser) rs1364808920
NM_002528.7(NTHL1):c.22A>C (p.Met8Leu) rs1596228289
NM_002528.7(NTHL1):c.22A>G (p.Met8Val) rs1596228289
NM_002528.7(NTHL1):c.22A>T (p.Met8Leu)
NM_002528.7(NTHL1):c.231A>C (p.Pro77=)
NM_002528.7(NTHL1):c.231A>G (p.Pro77=) rs754699488
NM_002528.7(NTHL1):c.232G>A (p.Val78Ile) rs1319706073
NM_002528.7(NTHL1):c.232G>C (p.Val78Leu) rs1319706073
NM_002528.7(NTHL1):c.232del (p.Val78fs) rs1314290585
NM_002528.7(NTHL1):c.234C>G (p.Val78=) rs1596223055
NM_002528.7(NTHL1):c.234C>T (p.Val78=) rs1596223055
NM_002528.7(NTHL1):c.234dup (p.Trp79fs) rs2150946400
NM_002528.7(NTHL1):c.235T>G (p.Trp79Gly) rs1596223048
NM_002528.7(NTHL1):c.236G>T (p.Trp79Leu) rs2150946361
NM_002528.7(NTHL1):c.237G>A (p.Trp79Ter) rs2084374285
NM_002528.7(NTHL1):c.237G>C (p.Trp79Cys) rs2084374285
NM_002528.7(NTHL1):c.239del (p.Glu80fs) rs2150946310
NM_002528.7(NTHL1):c.23T>C (p.Met8Thr)
NM_002528.7(NTHL1):c.23_24del (p.Met8fs)
NM_002528.7(NTHL1):c.240G>A (p.Glu80=)
NM_002528.7(NTHL1):c.240_248del (p.Glu80_Gln82del) rs1462985500
NM_002528.7(NTHL1):c.240_251delinsCTT (p.Glu80_Trp84delinsAspLeu)
NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala) rs1397863507
NM_002528.7(NTHL1):c.241C>T (p.Pro81Ser)
NM_002528.7(NTHL1):c.241_242insT (p.Pro81fs) rs2150946263
NM_002528.7(NTHL1):c.242C>A (p.Pro81His) rs753642509
NM_002528.7(NTHL1):c.245A>G (p.Gln82Arg)
NM_002528.7(NTHL1):c.246G>A (p.Gln82=)
NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr) rs1596222995
NM_002528.7(NTHL1):c.247G>T (p.Asp83Tyr)
NM_002528.7(NTHL1):c.247del (p.Asp83fs) rs2150946170
NM_002528.7(NTHL1):c.248A>G (p.Asp83Gly)
NM_002528.7(NTHL1):c.249C>G (p.Asp83Glu) rs2084372612
NM_002528.7(NTHL1):c.249C>T (p.Asp83=) rs2084372612
NM_002528.7(NTHL1):c.24G>A (p.Met8Ile)
NM_002528.7(NTHL1):c.250T>C (p.Trp84Arg)
NM_002528.7(NTHL1):c.251G>A (p.Trp84Ter)
NM_002528.7(NTHL1):c.251G>T (p.Trp84Leu) rs1375251505
NM_002528.7(NTHL1):c.252G>A (p.Trp84Ter)
NM_002528.7(NTHL1):c.254A>T (p.Gln85Leu) rs750435227
NM_002528.7(NTHL1):c.255G>A (p.Gln85=) rs2150946038
NM_002528.7(NTHL1):c.255G>T (p.Gln85His)
NM_002528.7(NTHL1):c.257A>C (p.Gln86Pro) rs369262985
NM_002528.7(NTHL1):c.257A>T (p.Gln86Leu) rs369262985
NM_002528.7(NTHL1):c.259C>G (p.Gln87Glu) rs201671098
NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter) rs201671098
NM_002528.7(NTHL1):c.25C>A (p.Leu9Met) rs1596228271
NM_002528.7(NTHL1):c.25C>G (p.Leu9Val) rs1596228271
NM_002528.7(NTHL1):c.25C>T (p.Leu9=)
NM_002528.7(NTHL1):c.261G>A (p.Gln87=)
NM_002528.7(NTHL1):c.261G>C (p.Gln87His)
NM_002528.7(NTHL1):c.262C>A (p.Leu88Met) rs2084371504
NM_002528.7(NTHL1):c.262C>G (p.Leu88Val)
NM_002528.7(NTHL1):c.264G>A (p.Leu88=) rs1009261529
NM_002528.7(NTHL1):c.264G>T (p.Leu88=) rs1009261529
NM_002528.7(NTHL1):c.265G>C (p.Val89Leu)
NM_002528.7(NTHL1):c.265dup (p.Val89fs) rs2150945928
NM_002528.7(NTHL1):c.266T>A (p.Val89Asp)
NM_002528.7(NTHL1):c.266T>C (p.Val89Ala)
NM_002528.7(NTHL1):c.267C>G (p.Val89=)
NM_002528.7(NTHL1):c.268A>C (p.Asn90His)
NM_002528.7(NTHL1):c.269A>G (p.Asn90Ser) rs1442043769
NM_002528.7(NTHL1):c.269A>T (p.Asn90Ile) rs1442043769
NM_002528.7(NTHL1):c.26T>C (p.Leu9Pro) rs1596228259
NM_002528.7(NTHL1):c.26T>G (p.Leu9Arg) rs1596228259
NM_002528.7(NTHL1):c.26_29delinsCGGAG (p.Leu9fs)
NM_002528.7(NTHL1):c.270C>T (p.Asn90=)
NM_002528.7(NTHL1):c.271A>G (p.Ile91Val) rs2150945858
NM_002528.7(NTHL1):c.275G>C (p.Arg92Pro) rs145644817
NM_002528.7(NTHL1):c.275G>T (p.Arg92Leu) rs145644817
NM_002528.7(NTHL1):c.276T>G (p.Arg92=)
NM_002528.7(NTHL1):c.278C>T (p.Ala93Val)
NM_002528.7(NTHL1):c.279C>T (p.Ala93=)
NM_002528.7(NTHL1):c.27G>A (p.Leu9=) rs2150958575
NM_002528.7(NTHL1):c.280A>G (p.Met94Val)
NM_002528.7(NTHL1):c.281T>C (p.Met94Thr) rs1596222785
NM_002528.7(NTHL1):c.282G>A (p.Met94Ile) rs1276674075
NM_002528.7(NTHL1):c.283A>G (p.Arg95Gly)
NM_002528.7(NTHL1):c.284G>A (p.Arg95Lys) rs2084369533
NM_002528.7(NTHL1):c.285G>T (p.Arg95Ser)
NM_002528.7(NTHL1):c.287A>G (p.Asn96Ser) rs1455998081
NM_002528.7(NTHL1):c.288C>T (p.Asn96=)
NM_002528.7(NTHL1):c.288_290del (p.Asn96del) rs2084368947
NM_002528.7(NTHL1):c.288del (p.Asn96fs)
NM_002528.7(NTHL1):c.289A>G (p.Lys97Glu)
NM_002528.7(NTHL1):c.28A>C (p.Thr10Pro)
NM_002528.7(NTHL1):c.290A>C (p.Lys97Thr) rs1341113327
NM_002528.7(NTHL1):c.291A>G (p.Lys97=)
NM_002528.7(NTHL1):c.295G>C (p.Asp99His)
NM_002528.7(NTHL1):c.295G>T (p.Asp99Tyr) rs760130778
NM_002528.7(NTHL1):c.296A>T (p.Asp99Val)
NM_002528.7(NTHL1):c.297T>C (p.Asp99=) rs1596222702
NM_002528.7(NTHL1):c.297T>G (p.Asp99Glu)
NM_002528.7(NTHL1):c.299C>T (p.Ala100Val) rs2084366900
NM_002528.7(NTHL1):c.29C>T (p.Thr10Ile) rs370539291
NM_002528.7(NTHL1):c.2T>A (p.Met1Lys) rs764604281
NM_002528.7(NTHL1):c.2T>C (p.Met1Thr) rs764604281
NM_002528.7(NTHL1):c.300A>G (p.Ala100=) rs2150945493
NM_002528.7(NTHL1):c.300A>T (p.Ala100=)
NM_002528.7(NTHL1):c.301C>G (p.Pro101Ala) rs2084366760
NM_002528.7(NTHL1):c.301C>T (p.Pro101Ser) rs2084366760
NM_002528.7(NTHL1):c.302C>T (p.Pro101Leu)
NM_002528.7(NTHL1):c.303T>A (p.Pro101=)
NM_002528.7(NTHL1):c.303T>C (p.Pro101=)
NM_002528.7(NTHL1):c.305T>G (p.Val102Gly) rs2150945430
NM_002528.7(NTHL1):c.305_315del (p.Val102fs)
NM_002528.7(NTHL1):c.307G>A (p.Asp103Asn)
NM_002528.7(NTHL1):c.307dup (p.Asp103fs) rs2150945390
NM_002528.7(NTHL1):c.308A>G (p.Asp103Gly) rs747659604
NM_002528.7(NTHL1):c.309C>T (p.Asp103=) rs2150945346
NM_002528.7(NTHL1):c.30C>A (p.Thr10=)
NM_002528.7(NTHL1):c.30C>T (p.Thr10=)
NM_002528.7(NTHL1):c.310C>A (p.His104Asn)
NM_002528.7(NTHL1):c.310C>G (p.His104Asp)
NM_002528.7(NTHL1):c.312T>C (p.His104=)
NM_002528.7(NTHL1):c.312T>G (p.His104Gln)
NM_002528.7(NTHL1):c.313C>G (p.Leu105Val) rs1386204098
NM_002528.7(NTHL1):c.313C>T (p.Leu105=) rs1386204098
NM_002528.7(NTHL1):c.314T>C (p.Leu105Pro) rs2150945263
NM_002528.7(NTHL1):c.315G>A (p.Leu105=)
NM_002528.7(NTHL1):c.316G>A (p.Gly106Arg) rs2150945247
NM_002528.7(NTHL1):c.317G>A (p.Gly106Glu)
NM_002528.7(NTHL1):c.317G>C (p.Gly106Ala)
NM_002528.7(NTHL1):c.318G>A (p.Gly106=) rs1596222612
NM_002528.7(NTHL1):c.318G>T (p.Gly106=)
NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro) rs1015524126
NM_002528.7(NTHL1):c.319A>G (p.Thr107Ala) rs1015524126
NM_002528.7(NTHL1):c.31C>G (p.Arg11Gly) rs549760347
NM_002528.7(NTHL1):c.320C>T (p.Thr107Ile)
NM_002528.7(NTHL1):c.321T>C (p.Thr107=)
NM_002528.7(NTHL1):c.322G>A (p.Glu108Lys) rs1596222596
NM_002528.7(NTHL1):c.322G>C (p.Glu108Gln)
NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)
NM_002528.7(NTHL1):c.323A>G (p.Glu108Gly)
NM_002528.7(NTHL1):c.324G>A (p.Glu108=)
NM_002528.7(NTHL1):c.325C>T (p.His109Tyr)
NM_002528.7(NTHL1):c.326A>G (p.His109Arg) rs2084364362
NM_002528.7(NTHL1):c.327C>G (p.His109Gln) rs1596222574
NM_002528.7(NTHL1):c.327C>T (p.His109=)
NM_002528.7(NTHL1):c.329G>A (p.Cys110Tyr)
NM_002528.7(NTHL1):c.329G>T (p.Cys110Phe) rs2150945115
NM_002528.7(NTHL1):c.329_331del (p.Cys110del)
NM_002528.7(NTHL1):c.32G>C (p.Arg11Pro) rs372992221
NM_002528.7(NTHL1):c.32G>T (p.Arg11Leu) rs372992221
NM_002528.7(NTHL1):c.32GGAGCC[1] (p.11RS[1]) rs2084525681
NM_002528.7(NTHL1):c.32GGAGCC[3] (p.11RS[3]) rs2084525681
NM_002528.7(NTHL1):c.330C>T (p.Cys110=) rs2150945100
NM_002528.7(NTHL1):c.332_333del (p.Cys110_Tyr111insTer)
NM_002528.7(NTHL1):c.334G>T (p.Asp112Tyr)
NM_002528.7(NTHL1):c.336C>G (p.Asp112Glu) rs1186300844
NM_002528.7(NTHL1):c.336C>T (p.Asp112=)
NM_002528.7(NTHL1):c.339C>T (p.Ser113=)
NM_002528.7(NTHL1):c.33G>A (p.Arg11=)
NM_002528.7(NTHL1):c.33G>C (p.Arg11=)
NM_002528.7(NTHL1):c.33G>T (p.Arg11=) rs2150958491
NM_002528.7(NTHL1):c.341G>C (p.Ser114Thr)
NM_002528.7(NTHL1):c.341_350del (p.Ser114fs)
NM_002528.7(NTHL1):c.342T>G (p.Ser114Arg) rs2084362839
NM_002528.7(NTHL1):c.343G>A (p.Ala115Thr)
NM_002528.7(NTHL1):c.343G>C (p.Ala115Pro)
NM_002528.7(NTHL1):c.344C>A (p.Ala115Asp) rs745986873
NM_002528.7(NTHL1):c.345C>G (p.Ala115=)
NM_002528.7(NTHL1):c.346C>T (p.Pro116Ser) rs143696592
NM_002528.7(NTHL1):c.347C>T (p.Pro116Leu) rs2084362155
NM_002528.7(NTHL1):c.348C>G (p.Pro116=) rs145185932
NM_002528.7(NTHL1):c.348C>T (p.Pro116=) rs145185932
NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr) rs149277519
NM_002528.7(NTHL1):c.349C>G (p.Pro117Ala) rs149277519
NM_002528.7(NTHL1):c.349C>T (p.Pro117Ser) rs149277519
NM_002528.7(NTHL1):c.34_53dup (p.Pro21fs)
NM_002528.7(NTHL1):c.350C>A (p.Pro117Gln) rs777263711
NM_002528.7(NTHL1):c.350C>G (p.Pro117Arg)
NM_002528.7(NTHL1):c.350C>T (p.Pro117Leu) rs777263711
NM_002528.7(NTHL1):c.350del (p.Pro117fs) rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs) rs763525759
NM_002528.7(NTHL1):c.351A>G (p.Pro117=)
NM_002528.7(NTHL1):c.352A>G (p.Lys118Glu)
NM_002528.7(NTHL1):c.353A>T (p.Lys118Met) rs1596222426
NM_002528.7(NTHL1):c.353dup (p.Val119fs)
NM_002528.7(NTHL1):c.354+10G>A
NM_002528.7(NTHL1):c.354+10G>T
NM_002528.7(NTHL1):c.354+11G>A rs1596222395
NM_002528.7(NTHL1):c.354+11G>C rs1596222395
NM_002528.7(NTHL1):c.354+11G>T
NM_002528.7(NTHL1):c.354+12C>A
NM_002528.7(NTHL1):c.354+12C>T
NM_002528.7(NTHL1):c.354+13C>T rs1409807736
NM_002528.7(NTHL1):c.354+14C>T
NM_002528.7(NTHL1):c.354+16A>G
NM_002528.7(NTHL1):c.354+18C>A
NM_002528.7(NTHL1):c.354+19T>A
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.354+2T>C rs1239874051
NM_002528.7(NTHL1):c.354+30dup rs3211971
NM_002528.7(NTHL1):c.354+33C>T
NM_002528.7(NTHL1):c.354+4G>C
NM_002528.7(NTHL1):c.354+5G>A rs2084360650
NM_002528.7(NTHL1):c.354+5G>C
NM_002528.7(NTHL1):c.354+5G>T
NM_002528.7(NTHL1):c.354+65C>G
NM_002528.7(NTHL1):c.354+7A>T
NM_002528.7(NTHL1):c.354+8G>A rs2150944676
NM_002528.7(NTHL1):c.354+9G>C rs2150944661
NM_002528.7(NTHL1):c.354G>A (p.Lys118=)
NM_002528.7(NTHL1):c.355-10G>A rs2084320531
NM_002528.7(NTHL1):c.355-12C>G
NM_002528.7(NTHL1):c.355-13A>G
NM_002528.7(NTHL1):c.355-14C>T rs1206220588
NM_002528.7(NTHL1):c.355-17T>C rs2084320681
NM_002528.7(NTHL1):c.355-19C>T
NM_002528.7(NTHL1):c.355-20C>A
NM_002528.7(NTHL1):c.355-27C>G
NM_002528.7(NTHL1):c.355-32C>T
NM_002528.7(NTHL1):c.355-3C>G
NM_002528.7(NTHL1):c.355-3C>T rs1188936333
NM_002528.7(NTHL1):c.355-4G>A rs1245963500
NM_002528.7(NTHL1):c.355-4G>C rs1245963500
NM_002528.7(NTHL1):c.355-6A>C
NM_002528.7(NTHL1):c.355-6A>G rs2150942567
NM_002528.7(NTHL1):c.355-8A>C rs2150942571
NM_002528.7(NTHL1):c.355-9C>T rs1596220562
NM_002528.7(NTHL1):c.355G>T (p.Val119Leu) rs536140679
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs) rs759955745
NM_002528.7(NTHL1):c.356del (p.Val119fs)
NM_002528.7(NTHL1):c.357A>C (p.Val119=) rs776325627
NM_002528.7(NTHL1):c.357A>G (p.Val119=) rs776325627
NM_002528.7(NTHL1):c.357dup (p.Arg120fs)
NM_002528.7(NTHL1):c.358C>A (p.Arg120Ser) rs370228590
NM_002528.7(NTHL1):c.358C>T (p.Arg120Cys) rs370228590
NM_002528.7(NTHL1):c.359G>A (p.Arg120His) rs1324289477
NM_002528.7(NTHL1):c.359G>T (p.Arg120Leu) rs1324289477
NM_002528.7(NTHL1):c.35G>A (p.Ser12Asn) rs2150958467
NM_002528.7(NTHL1):c.35G>T (p.Ser12Ile)
NM_002528.7(NTHL1):c.35_48dup (p.Pro17fs)
NM_002528.7(NTHL1):c.360C>T (p.Arg120=) rs566860680
NM_002528.7(NTHL1):c.361A>T (p.Arg121Trp)
NM_002528.7(NTHL1):c.362G>A (p.Arg121Lys)
NM_002528.7(NTHL1):c.363G>A (p.Arg121=) rs1048431740
NM_002528.7(NTHL1):c.364T>C (p.Tyr122His)
NM_002528.7(NTHL1):c.365A>C (p.Tyr122Ser)
NM_002528.7(NTHL1):c.365_371del (p.Tyr122fs)
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter) rs371328106
NM_002528.7(NTHL1):c.366C>T (p.Tyr122=) rs371328106
NM_002528.7(NTHL1):c.368A>T (p.Gln123Leu)
NM_002528.7(NTHL1):c.369G>C (p.Gln123His)
NM_002528.7(NTHL1):c.36C>A (p.Ser12Arg)
NM_002528.7(NTHL1):c.36C>G (p.Ser12Arg)
NM_002528.7(NTHL1):c.36C>T (p.Ser12=) rs1216311147
NM_002528.7(NTHL1):c.370G>A (p.Val124Met) rs1271178921
NM_002528.7(NTHL1):c.370G>C (p.Val124Leu)
NM_002528.7(NTHL1):c.370G>T (p.Val124Leu) rs1271178921
NM_002528.7(NTHL1):c.372G>A (p.Val124=) rs748183280
NM_002528.7(NTHL1):c.372G>T (p.Val124=)
NM_002528.7(NTHL1):c.373C>T (p.Leu125=) rs1397440217
NM_002528.7(NTHL1):c.373_414del (p.Leu125_Val138del)
NM_002528.7(NTHL1):c.374T>C (p.Leu125Pro) rs2084319723
NM_002528.7(NTHL1):c.375G>A (p.Leu125=) rs1596220502
NM_002528.7(NTHL1):c.375G>C (p.Leu125=) rs1596220502
NM_002528.7(NTHL1):c.376C>G (p.Leu126Val)
NM_002528.7(NTHL1):c.376C>T (p.Leu126=) rs2150942503
NM_002528.7(NTHL1):c.377T>C (p.Leu126Pro) rs1366983655
NM_002528.7(NTHL1):c.378G>A (p.Leu126=)
NM_002528.7(NTHL1):c.378G>C (p.Leu126=)
NM_002528.7(NTHL1):c.379T>A (p.Ser127Thr) rs2084319616
NM_002528.7(NTHL1):c.379T>C (p.Ser127Pro)
NM_002528.7(NTHL1):c.37C>A (p.Arg13=) rs3087469
NM_002528.7(NTHL1):c.37C>G (p.Arg13Gly)
NM_002528.7(NTHL1):c.382C>G (p.Leu128Val) rs1433716256
NM_002528.7(NTHL1):c.382C>T (p.Leu128=)
NM_002528.7(NTHL1):c.383T>C (p.Leu128Pro)
NM_002528.7(NTHL1):c.384G>C (p.Leu128=) rs755185485
NM_002528.7(NTHL1):c.384G>T (p.Leu128=)
NM_002528.7(NTHL1):c.386T>C (p.Met129Thr) rs2150942480
NM_002528.7(NTHL1):c.387G>A (p.Met129Ile) rs2084319462
NM_002528.7(NTHL1):c.389T>C (p.Leu130Pro) rs2084319371
NM_002528.7(NTHL1):c.38G>A (p.Arg13Gln)
NM_002528.7(NTHL1):c.38G>C (p.Arg13Pro)
NM_002528.7(NTHL1):c.38G>T (p.Arg13Leu) rs2084526654
NM_002528.7(NTHL1):c.390C>G (p.Leu130=) rs1596220481
NM_002528.7(NTHL1):c.390C>T (p.Leu130=) rs1596220481
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs) rs1596220478
NM_002528.7(NTHL1):c.392C>T (p.Ser131Phe) rs1596220473
NM_002528.7(NTHL1):c.393C>T (p.Ser131=)
NM_002528.7(NTHL1):c.394A>G (p.Ser132Gly) rs2084319238
NM_002528.7(NTHL1):c.395G>A (p.Ser132Asn) rs377360166
NM_002528.7(NTHL1):c.396C>A (p.Ser132Arg)
NM_002528.7(NTHL1):c.396C>T (p.Ser132=)
NM_002528.7(NTHL1):c.397C>T (p.Gln133Ter)
NM_002528.7(NTHL1):c.398A>C (p.Gln133Pro)
NM_002528.7(NTHL1):c.39G>A (p.Arg13=) rs1282431142
NM_002528.7(NTHL1):c.39G>C (p.Arg13=) rs1282431142
NM_002528.7(NTHL1):c.3G>A (p.Met1Ile) rs2150958900
NM_002528.7(NTHL1):c.3G>C (p.Met1Ile)
NM_002528.7(NTHL1):c.401C>T (p.Thr134Ile) rs1596220446
NM_002528.7(NTHL1):c.402C>T (p.Thr134=) rs1169048585
NM_002528.7(NTHL1):c.403A>G (p.Lys135Glu) rs2084319030
NM_002528.7(NTHL1):c.405A>G (p.Lys135=) rs2150942448
NM_002528.7(NTHL1):c.406G>A (p.Asp136Asn)
NM_002528.7(NTHL1):c.406G>C (p.Asp136His)
NM_002528.7(NTHL1):c.406G>T (p.Asp136Tyr)
NM_002528.7(NTHL1):c.407A>C (p.Asp136Ala)
NM_002528.7(NTHL1):c.408C>A (p.Asp136Glu) rs1451036395
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter) rs758667255
NM_002528.7(NTHL1):c.40A>C (p.Ser14Arg) rs1596228177
NM_002528.7(NTHL1):c.40A>G (p.Ser14Gly) rs1596228177
NM_002528.7(NTHL1):c.40_59del (p.Ser14fs)
NM_002528.7(NTHL1):c.410A>G (p.Gln137Arg)
NM_002528.7(NTHL1):c.410A>T (p.Gln137Leu) rs2084318917
NM_002528.7(NTHL1):c.411G>A (p.Gln137=)
NM_002528.7(NTHL1):c.411G>C (p.Gln137His) rs2150942423
NM_002528.7(NTHL1):c.412G>C (p.Val138Leu) rs766774887
NM_002528.7(NTHL1):c.415A>G (p.Thr139Ala)
NM_002528.7(NTHL1):c.416CGG[1] (p.Ala140del) rs774894275
NM_002528.7(NTHL1):c.417_436dup (p.Leu146fs)
NM_002528.7(NTHL1):c.418G>T (p.Ala140Ser)
NM_002528.7(NTHL1):c.418dup (p.Ala140fs) rs2150942398
NM_002528.7(NTHL1):c.41G>T (p.Ser14Ile)
NM_002528.7(NTHL1):c.420G>C (p.Ala140=)
NM_002528.7(NTHL1):c.422G>A (p.Gly141Asp) rs1306012390
NM_002528.7(NTHL1):c.422G>C (p.Gly141Ala) rs1306012390
NM_002528.7(NTHL1):c.422_423delinsAA (p.Gly141Glu)
NM_002528.7(NTHL1):c.423C>A (p.Gly141=)
NM_002528.7(NTHL1):c.426_445del (p.Met143fs)
NM_002528.7(NTHL1):c.427A>C (p.Met143Leu)
NM_002528.7(NTHL1):c.428T>C (p.Met143Thr) rs759156239
NM_002528.7(NTHL1):c.428T>G (p.Met143Arg)
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
NM_002528.7(NTHL1):c.429G>A (p.Met143Ile)
NM_002528.7(NTHL1):c.429G>C (p.Met143Ile) rs1461262968
NM_002528.7(NTHL1):c.429G>T (p.Met143Ile) rs1461262968
NM_002528.7(NTHL1):c.42C>G (p.Ser14Arg) rs898348644
NM_002528.7(NTHL1):c.42C>T (p.Ser14=) rs898348644
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
NM_002528.7(NTHL1):c.430C>A (p.Gln144Lys)
NM_002528.7(NTHL1):c.431A>G (p.Gln144Arg) rs1379407122
NM_002528.7(NTHL1):c.432G>A (p.Gln144=) rs1304149274
NM_002528.7(NTHL1):c.434G>C (p.Arg145Pro)
NM_002528.7(NTHL1):c.434G>T (p.Arg145Leu) rs746940807
NM_002528.7(NTHL1):c.435A>G (p.Arg145=) rs2150942359
NM_002528.7(NTHL1):c.436C>T (p.Leu146=)
NM_002528.7(NTHL1):c.437T>A (p.Leu146Gln) rs2084318215
NM_002528.7(NTHL1):c.437T>G (p.Leu146Arg)
NM_002528.7(NTHL1):c.440G>C (p.Arg147Pro) rs1431434201
NM_002528.7(NTHL1):c.440G>T (p.Arg147Leu) rs1431434201
NM_002528.7(NTHL1):c.442G>A (p.Ala148Thr) rs2150942340
NM_002528.7(NTHL1):c.442G>T (p.Ala148Ser)
NM_002528.7(NTHL1):c.444_450del (p.Ala148_Arg149insTer)
NM_002528.7(NTHL1):c.445_446del (p.Arg149fs)
NM_002528.7(NTHL1):c.445dup (p.Arg149fs) rs1596220365
NM_002528.7(NTHL1):c.446G>C (p.Arg149Pro) rs150437839
NM_002528.7(NTHL1):c.447G>C (p.Arg149=)
NM_002528.7(NTHL1):c.447G>T (p.Arg149=) rs2150942324
NM_002528.7(NTHL1):c.448G>A (p.Gly150Ser) rs749527022
NM_002528.7(NTHL1):c.448G>T (p.Gly150Cys)
NM_002528.7(NTHL1):c.449G>A (p.Gly150Asp)
NM_002528.7(NTHL1):c.449G>C (p.Gly150Ala)
NM_002528.7(NTHL1):c.449G>T (p.Gly150Val) rs1451809479
NM_002528.7(NTHL1):c.449dup (p.Leu151fs) rs2150942322
NM_002528.7(NTHL1):c.450C>T (p.Gly150=) rs962452543
NM_002528.7(NTHL1):c.451C>T (p.Leu151=) rs2150942315
NM_002528.7(NTHL1):c.452_462del (p.Leu151fs)
NM_002528.7(NTHL1):c.453G>A (p.Leu151=) rs1596220348
NM_002528.7(NTHL1):c.453G>T (p.Leu151=)
NM_002528.7(NTHL1):c.454A>C (p.Thr152Pro) rs1472473035
NM_002528.7(NTHL1):c.454A>G (p.Thr152Ala) rs1472473035
NM_002528.7(NTHL1):c.454A>T (p.Thr152Ser)
NM_002528.7(NTHL1):c.455C>A (p.Thr152Lys) rs756403102
NM_002528.7(NTHL1):c.455C>G (p.Thr152Arg) rs756403102
NM_002528.7(NTHL1):c.456G>T (p.Thr152=) rs750798417
NM_002528.7(NTHL1):c.457G>A (p.Val153Met) rs781629683
NM_002528.7(NTHL1):c.457G>T (p.Val153Leu) rs781629683
NM_002528.7(NTHL1):c.458T>C (p.Val153Ala)
NM_002528.7(NTHL1):c.458_460del (p.Val153del)
NM_002528.7(NTHL1):c.459G>A (p.Val153=) rs2150942290
NM_002528.7(NTHL1):c.45G>C (p.Leu15=)
NM_002528.7(NTHL1):c.45G>T (p.Leu15=) rs1367601001
NM_002528.7(NTHL1):c.460G>C (p.Asp154His)
NM_002528.7(NTHL1):c.460del (p.Asp154fs) rs1596220332
NM_002528.7(NTHL1):c.462C>G (p.Asp154Glu)
NM_002528.7(NTHL1):c.464G>A (p.Ser155Asn)
NM_002528.7(NTHL1):c.464_487dup (p.Ala162_Thr163insSerIleLeuGlnThrAspAspAla)
NM_002528.7(NTHL1):c.465C>T (p.Ser155=)
NM_002528.7(NTHL1):c.466A>G (p.Ile156Val)
NM_002528.7(NTHL1):c.466A>T (p.Ile156Phe)
NM_002528.7(NTHL1):c.467T>C (p.Ile156Thr)
NM_002528.7(NTHL1):c.467T>G (p.Ile156Ser)
NM_002528.7(NTHL1):c.468C>A (p.Ile156=) rs752220394
NM_002528.7(NTHL1):c.468C>T (p.Ile156=) rs752220394
NM_002528.7(NTHL1):c.469C>G (p.Leu157Val) rs2150942273
NM_002528.7(NTHL1):c.469C>T (p.Leu157=)
NM_002528.7(NTHL1):c.469del (p.Leu157fs)
NM_002528.7(NTHL1):c.470T>A (p.Leu157Gln)
NM_002528.7(NTHL1):c.471G>A (p.Leu157=)
NM_002528.7(NTHL1):c.473A>C (p.Gln158Pro)
NM_002528.7(NTHL1):c.473A>G (p.Gln158Arg)
NM_002528.7(NTHL1):c.474G>A (p.Gln158=)
NM_002528.7(NTHL1):c.474G>T (p.Gln158His)
NM_002528.7(NTHL1):c.476C>G (p.Thr159Arg) rs968060928
NM_002528.7(NTHL1):c.477_480del (p.Asp160fs)
NM_002528.7(NTHL1):c.478G>A (p.Asp160Asn) rs1377761428
NM_002528.7(NTHL1):c.478G>C (p.Asp160His)
NM_002528.7(NTHL1):c.479A>G (p.Asp160Gly) rs1288936702
NM_002528.7(NTHL1):c.479A>T (p.Asp160Val)
NM_002528.7(NTHL1):c.479ATG[1] (p.Asp161del)
NM_002528.7(NTHL1):c.47G>A (p.Gly16Glu)
NM_002528.7(NTHL1):c.480T>A (p.Asp160Glu)
NM_002528.7(NTHL1):c.481G>A (p.Asp161Asn)
NM_002528.7(NTHL1):c.482A>G (p.Asp161Gly)
NM_002528.7(NTHL1):c.482A>T (p.Asp161Val)
NM_002528.7(NTHL1):c.484G>A (p.Ala162Thr) rs2150942251
NM_002528.7(NTHL1):c.487_505delinsC (p.Thr163_Tyr169delinsHis) rs2084316527
NM_002528.7(NTHL1):c.488C>A (p.Thr163Lys)
NM_002528.7(NTHL1):c.489G>T (p.Thr163=) rs760491144
NM_002528.7(NTHL1):c.48_60dup (p.Pro21fs)
NM_002528.7(NTHL1):c.490C>T (p.Leu164=)
NM_002528.7(NTHL1):c.491T>A (p.Leu164Gln) rs1162857718
NM_002528.7(NTHL1):c.492G>T (p.Leu164=) rs1241018958
NM_002528.7(NTHL1):c.493G>A (p.Gly165Ser) rs2084316789
NM_002528.7(NTHL1):c.494G>A (p.Gly165Asp) rs2150942231
NM_002528.7(NTHL1):c.495C>G (p.Gly165=) rs2150942226
NM_002528.7(NTHL1):c.495C>T (p.Gly165=)
NM_002528.7(NTHL1):c.499C>G (p.Leu167Val) rs772100661
NM_002528.7(NTHL1):c.49C>T (p.Pro17Ser)
NM_002528.7(NTHL1):c.4A>T (p.Thr2Ser)
NM_002528.7(NTHL1):c.500T>A (p.Leu167His)
NM_002528.7(NTHL1):c.500T>G (p.Leu167Arg) rs2084316654
NM_002528.7(NTHL1):c.502A>C (p.Ile168Leu)
NM_002528.7(NTHL1):c.502A>G (p.Ile168Val) rs1596220283
NM_002528.7(NTHL1):c.504C>A (p.Ile168=) rs2084316556
NM_002528.7(NTHL1):c.504C>G (p.Ile168Met) rs2084316556
NM_002528.7(NTHL1):c.507C>A (p.Tyr169Ter)
NM_002528.7(NTHL1):c.507C>T (p.Tyr169=)
NM_002528.7(NTHL1):c.508C>G (p.Pro170Ala) rs551068959
NM_002528.7(NTHL1):c.508C>T (p.Pro170Ser) rs551068959
NM_002528.7(NTHL1):c.509C>T (p.Pro170Leu) rs2084316397
NM_002528.7(NTHL1):c.50C>A (p.Pro17His) rs1343729377
NM_002528.7(NTHL1):c.50C>G (p.Pro17Arg)
NM_002528.7(NTHL1):c.50C>T (p.Pro17Leu)
NM_002528.7(NTHL1):c.510C>A (p.Pro170=)
NM_002528.7(NTHL1):c.510del (p.Val171fs) rs1567369975
NM_002528.7(NTHL1):c.511G>A (p.Val171Ile) rs561923127
NM_002528.7(NTHL1):c.511G>C (p.Val171Leu) rs561923127
NM_002528.7(NTHL1):c.512T>C (p.Val171Ala)
NM_002528.7(NTHL1):c.512T>G (p.Val171Gly)
NM_002528.7(NTHL1):c.513C>A (p.Val171=) rs140211154
NM_002528.7(NTHL1):c.514G>A (p.Gly172Ser) rs1567369944
NM_002528.7(NTHL1):c.514G>T (p.Gly172Cys)
NM_002528.7(NTHL1):c.515G>A (p.Gly172Asp) rs902449328
NM_002528.7(NTHL1):c.516T>G (p.Gly172=) rs1555492398
NM_002528.7(NTHL1):c.517T>G (p.Phe173Val)
NM_002528.7(NTHL1):c.519C>G (p.Phe173Leu)
NM_002528.7(NTHL1):c.51C>A (p.Pro17=)
NM_002528.7(NTHL1):c.51C>G (p.Pro17=) rs370814682
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.521G>C (p.Trp174Ser)
NM_002528.7(NTHL1):c.524G>A (p.Arg175Lys) rs2084315998
NM_002528.7(NTHL1):c.525+10G>A rs2150942168
NM_002528.7(NTHL1):c.525+131C>T rs2233520
NM_002528.7(NTHL1):c.525+14G>C
NM_002528.7(NTHL1):c.525+16G>A
NM_002528.7(NTHL1):c.525+16G>C
NM_002528.7(NTHL1):c.525+17G>A rs2150942159
NM_002528.7(NTHL1):c.525+1G>A rs1596220242
NM_002528.7(NTHL1):c.525+22G>C
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.525+3G>A
NM_002528.7(NTHL1):c.525+3G>T rs2084315929
NM_002528.7(NTHL1):c.525+5G>T rs1266874910
NM_002528.7(NTHL1):c.525+6C>G
NM_002528.7(NTHL1):c.525+7C>A
NM_002528.7(NTHL1):c.525+7C>T
NM_002528.7(NTHL1):c.525+9T>C rs2150942171
NM_002528.7(NTHL1):c.525+9T>G
NM_002528.7(NTHL1):c.525G>T (p.Arg175Ser)
NM_002528.7(NTHL1):c.526-10T>C rs199771569
NM_002528.7(NTHL1):c.526-10T>G rs199771569
NM_002528.7(NTHL1):c.526-10del
NM_002528.7(NTHL1):c.526-11C>G
NM_002528.7(NTHL1):c.526-12C>A rs748774265
NM_002528.7(NTHL1):c.526-12C>G rs748774265
NM_002528.7(NTHL1):c.526-12C>T
NM_002528.7(NTHL1):c.526-12_526-11del rs2150941472
NM_002528.7(NTHL1):c.526-14C>T
NM_002528.7(NTHL1):c.526-15A>G
NM_002528.7(NTHL1):c.526-16C>T
NM_002528.7(NTHL1):c.526-17C>G
NM_002528.7(NTHL1):c.526-17C>T
NM_002528.7(NTHL1):c.526-18C>G
NM_002528.7(NTHL1):c.526-1G>T rs779757251
NM_002528.7(NTHL1):c.526-2A>G
NM_002528.7(NTHL1):c.526-36del
NM_002528.7(NTHL1):c.526-3C>T rs2084301468
NM_002528.7(NTHL1):c.526-45G>A
NM_002528.7(NTHL1):c.526-5T>C rs2150941454
NM_002528.7(NTHL1):c.526-7C>G
NM_002528.7(NTHL1):c.526-8T>A rs1450416555
NM_002528.7(NTHL1):c.526-9G>A
NM_002528.7(NTHL1):c.527_528delinsTT (p.Ser176Ile)
NM_002528.7(NTHL1):c.528C>T (p.Ser176=) rs202246675
NM_002528.7(NTHL1):c.52G>A (p.Gly18Arg) rs1456331577
NM_002528.7(NTHL1):c.52G>C (p.Gly18Arg) rs1456331577
NM_002528.7(NTHL1):c.52G>T (p.Gly18Trp) rs1456331577
NM_002528.7(NTHL1):c.530A>G (p.Lys177Arg) rs1463175465
NM_002528.7(NTHL1):c.530A>T (p.Lys177Met)
NM_002528.7(NTHL1):c.530del (p.Lys177fs)
NM_002528.7(NTHL1):c.531G>A (p.Lys177=)
NM_002528.7(NTHL1):c.531G>C (p.Lys177Asn)
NM_002528.7(NTHL1):c.532G>C (p.Val178Leu) rs2084301329
NM_002528.7(NTHL1):c.532G>T (p.Val178Leu) rs2084301329
NM_002528.7(NTHL1):c.533T>C (p.Val178Ala) rs2084301301
NM_002528.7(NTHL1):c.533T>G (p.Val178Gly) rs2084301301
NM_002528.7(NTHL1):c.534G>A (p.Val178=) rs1596219446
NM_002528.7(NTHL1):c.535A>C (p.Lys179Gln)
NM_002528.7(NTHL1):c.535A>G (p.Lys179Glu)
NM_002528.7(NTHL1):c.536A>G (p.Lys179Arg)
NM_002528.7(NTHL1):c.537A>G (p.Lys179=)
NM_002528.7(NTHL1):c.538T>C (p.Tyr180His) rs2084301249
NM_002528.7(NTHL1):c.539A>G (p.Tyr180Cys) rs2150941438
NM_002528.7(NTHL1):c.53G>A (p.Gly18Glu)
NM_002528.7(NTHL1):c.541A>G (p.Ile181Val) rs2084301185
NM_002528.7(NTHL1):c.542del (p.Ile181fs)
NM_002528.7(NTHL1):c.543C>G (p.Ile181Met) rs2150941427
NM_002528.7(NTHL1):c.543C>T (p.Ile181=)
NM_002528.7(NTHL1):c.545A>G (p.Lys182Arg)
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
NM_002528.7(NTHL1):c.547C>A (p.Gln183Lys) rs1385660445
NM_002528.7(NTHL1):c.547C>T (p.Gln183Ter) rs1385660445
NM_002528.7(NTHL1):c.548A>C (p.Gln183Pro)
NM_002528.7(NTHL1):c.548A>G (p.Gln183Arg) rs1596219441
NM_002528.7(NTHL1):c.549G>A (p.Gln183=)
NM_002528.7(NTHL1):c.549G>C (p.Gln183His)
NM_002528.7(NTHL1):c.54G>C (p.Gly18=) rs967224859
NM_002528.7(NTHL1):c.550A>T (p.Thr184Ser) rs2084301101
NM_002528.7(NTHL1):c.552C>G (p.Thr184=)
NM_002528.7(NTHL1):c.552C>T (p.Thr184=)
NM_002528.7(NTHL1):c.553A>C (p.Ser185Arg) rs2084300945
NM_002528.7(NTHL1):c.554G>C (p.Ser185Thr)
NM_002528.7(NTHL1):c.556G>T (p.Ala186Ser)
NM_002528.7(NTHL1):c.558C>G (p.Ala186=) rs2150941398
NM_002528.7(NTHL1):c.559A>G (p.Ile187Val)
NM_002528.7(NTHL1):c.559_562del (p.Ile187fs)
NM_002528.7(NTHL1):c.55G>A (p.Ala19Thr) rs2150958171
NM_002528.7(NTHL1):c.55del (p.Ala19fs)
NM_002528.7(NTHL1):c.561C>T (p.Ile187=) rs2150941393
NM_002528.7(NTHL1):c.562C>G (p.Leu188Val) rs1233302662
NM_002528.7(NTHL1):c.562C>T (p.Leu188=) rs1233302662
NM_002528.7(NTHL1):c.564G>A (p.Leu188=) rs1596219422
NM_002528.7(NTHL1):c.564G>C (p.Leu188=) rs1596219422
NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)
NM_002528.7(NTHL1):c.565del (p.Gln189fs)
NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter) rs1455020789
NM_002528.7(NTHL1):c.569A>T (p.Gln190Leu) rs2084300404
NM_002528.7(NTHL1):c.56C>T (p.Ala19Val)
NM_002528.7(NTHL1):c.570G>A (p.Gln190=)
NM_002528.7(NTHL1):c.571C>T (p.His191Tyr)
NM_002528.7(NTHL1):c.572A>C (p.His191Pro)
NM_002528.7(NTHL1):c.572A>G (p.His191Arg) rs1226532313
NM_002528.7(NTHL1):c.572A>T (p.His191Leu)
NM_002528.7(NTHL1):c.573C>T (p.His191=) rs2150941365
NM_002528.7(NTHL1):c.574T>C (p.Tyr192His) rs2084300211
NM_002528.7(NTHL1):c.574T>G (p.Tyr192Asp) rs2084300211
NM_002528.7(NTHL1):c.575A>G (p.Tyr192Cys)
NM_002528.7(NTHL1):c.575dup (p.Tyr192Ter)
NM_002528.7(NTHL1):c.577G>C (p.Gly193Arg) rs200007034
NM_002528.7(NTHL1):c.578G>A (p.Gly193Asp)
NM_002528.7(NTHL1):c.578G>T (p.Gly193Val)
NM_002528.7(NTHL1):c.581G>A (p.Gly194Glu)
NM_002528.7(NTHL1):c.582G>A (p.Gly194=) rs1025984433
NM_002528.7(NTHL1):c.582G>T (p.Gly194=) rs1025984433
NM_002528.7(NTHL1):c.584A>G (p.Asp195Gly)
NM_002528.7(NTHL1):c.585C>A (p.Asp195Glu)
NM_002528.7(NTHL1):c.585C>T (p.Asp195=) rs2150941343
NM_002528.7(NTHL1):c.586A>C (p.Ile196Leu) rs2150941339
NM_002528.7(NTHL1):c.586A>G (p.Ile196Val)
NM_002528.7(NTHL1):c.586A>T (p.Ile196Phe)
NM_002528.7(NTHL1):c.588C>T (p.Ile196=)
NM_002528.7(NTHL1):c.589C>G (p.Pro197Ala) rs897842210
NM_002528.7(NTHL1):c.589C>T (p.Pro197Ser) rs897842210
NM_002528.7(NTHL1):c.58G>C (p.Gly20Arg) rs529997128
NM_002528.7(NTHL1):c.592G>C (p.Ala198Pro) rs776654917
NM_002528.7(NTHL1):c.593C>A (p.Ala198Asp)
NM_002528.7(NTHL1):c.594C>A (p.Ala198=)
NM_002528.7(NTHL1):c.594C>T (p.Ala198=) rs1372740198
NM_002528.7(NTHL1):c.596C>G (p.Ser199Cys) rs2084299591
NM_002528.7(NTHL1):c.596C>T (p.Ser199Phe) rs2084299591
NM_002528.7(NTHL1):c.599T>C (p.Val200Ala)
NM_002528.7(NTHL1):c.599_600del (p.Val200fs) rs2084299537
NM_002528.7(NTHL1):c.59G>A (p.Gly20Glu) rs1430939825
NM_002528.7(NTHL1):c.5C>A (p.Thr2Asn)
NM_002528.7(NTHL1):c.5C>T (p.Thr2Ile) rs1305523200
NM_002528.7(NTHL1):c.601G>A (p.Ala201Thr)
NM_002528.7(NTHL1):c.603C>A (p.Ala201=) rs747289981
NM_002528.7(NTHL1):c.603C>G (p.Ala201=) rs747289981
NM_002528.7(NTHL1):c.604G>A (p.Glu202Lys) rs919177150
NM_002528.7(NTHL1):c.604G>C (p.Glu202Gln)
NM_002528.7(NTHL1):c.605A>T (p.Glu202Val) rs2084299271
NM_002528.7(NTHL1):c.606G>A (p.Glu202=)
NM_002528.7(NTHL1):c.606G>C (p.Glu202Asp)
NM_002528.7(NTHL1):c.607C>G (p.Leu203Val) rs369076851
NM_002528.7(NTHL1):c.608T>C (p.Leu203Pro)
NM_002528.7(NTHL1):c.60G>A (p.Gly20=)
NM_002528.7(NTHL1):c.60dup (p.Pro21fs)
NM_002528.7(NTHL1):c.610G>C (p.Val204Leu)
NM_002528.7(NTHL1):c.610G>T (p.Val204Leu)
NM_002528.7(NTHL1):c.611T>G (p.Val204Gly) rs1596219358
NM_002528.7(NTHL1):c.611_637delinsG (p.Val204fs)
NM_002528.7(NTHL1):c.613G>T (p.Ala205Ser)
NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) rs748719278
NM_002528.7(NTHL1):c.616C>G (p.Leu206Val)
NM_002528.7(NTHL1):c.616C>T (p.Leu206=) rs2084298971
NM_002528.7(NTHL1):c.618G>A (p.Leu206=)
NM_002528.7(NTHL1):c.618G>T (p.Leu206=)
NM_002528.7(NTHL1):c.618del (p.Pro207fs)
NM_002528.7(NTHL1):c.619C>G (p.Pro207Ala)
NM_002528.7(NTHL1):c.61C>T (p.Pro21Ser) rs2084522305
NM_002528.7(NTHL1):c.620C>A (p.Pro207Gln) rs755619109
NM_002528.7(NTHL1):c.620C>G (p.Pro207Arg)
NM_002528.7(NTHL1):c.621G>C (p.Pro207=) rs745383145
NM_002528.7(NTHL1):c.622G>A (p.Gly208Ser) rs2084298730
NM_002528.7(NTHL1):c.622G>T (p.Gly208Cys)
NM_002528.7(NTHL1):c.623G>C (p.Gly208Ala) rs2150941253
NM_002528.7(NTHL1):c.623G>T (p.Gly208Val) rs2150941253
NM_002528.7(NTHL1):c.625G>T (p.Val209Phe) rs780658029
NM_002528.7(NTHL1):c.625_626del (p.Val209fs) rs2150941243
NM_002528.7(NTHL1):c.629G>C (p.Gly210Ala) rs2084298566
NM_002528.7(NTHL1):c.62C>A (p.Pro21Gln) rs753200685
NM_002528.7(NTHL1):c.62C>G (p.Pro21Arg) rs753200685
NM_002528.7(NTHL1):c.62C>T (p.Pro21Leu) rs753200685
NM_002528.7(NTHL1):c.630G>C (p.Gly210=)
NM_002528.7(NTHL1):c.630G>T (p.Gly210=)
NM_002528.7(NTHL1):c.632C>G (p.Pro211Arg)
NM_002528.7(NTHL1):c.632C>T (p.Pro211Leu) rs2084298434
NM_002528.7(NTHL1):c.633dup (p.Lys212fs)
NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln) rs1247089981
NM_002528.7(NTHL1):c.634A>G (p.Lys212Glu)
NM_002528.7(NTHL1):c.636G>A (p.Lys212=)
NM_002528.7(NTHL1):c.639G>A (p.Met213Ile)
NM_002528.7(NTHL1):c.641C>T (p.Ala214Val)
NM_002528.7(NTHL1):c.643C>T (p.His215Tyr)
NM_002528.7(NTHL1):c.644A>G (p.His215Arg) rs2084298229
NM_002528.7(NTHL1):c.645C>A (p.His215Gln)
NM_002528.7(NTHL1):c.645C>G (p.His215Gln) rs2150941217
NM_002528.7(NTHL1):c.645C>T (p.His215=)
NM_002528.7(NTHL1):c.646C>G (p.Leu216Val)
NM_002528.7(NTHL1):c.646C>T (p.Leu216=) rs751282646
NM_002528.7(NTHL1):c.647T>C (p.Leu216Pro) rs2150941212
NM_002528.7(NTHL1):c.64C>T (p.Arg22Trp) rs2084521791
NM_002528.7(NTHL1):c.650_653dup (p.Met218fs) rs2084298057
NM_002528.7(NTHL1):c.653T>C (p.Met218Thr) rs2150941201
NM_002528.7(NTHL1):c.655G>A (p.Ala219Thr)
NM_002528.7(NTHL1):c.656C>G (p.Ala219Gly)
NM_002528.7(NTHL1):c.658G>A (p.Val220Met)
NM_002528.7(NTHL1):c.659del (p.Val220fs)
NM_002528.7(NTHL1):c.65G>A (p.Arg22Gln)
NM_002528.7(NTHL1):c.65G>T (p.Arg22Leu) rs779612126
NM_002528.7(NTHL1):c.660G>A (p.Val220=) rs2150941188
NM_002528.7(NTHL1):c.661G>A (p.Ala221Thr) rs1596219280
NM_002528.7(NTHL1):c.661G>T (p.Ala221Ser) rs1596219280
NM_002528.7(NTHL1):c.662C>G (p.Ala221Gly)
NM_002528.7(NTHL1):c.662C>T (p.Ala221Val)
NM_002528.7(NTHL1):c.663C>A (p.Ala221=)
NM_002528.7(NTHL1):c.663C>G (p.Ala221=)
NM_002528.7(NTHL1):c.664dup (p.Trp222fs)
NM_002528.7(NTHL1):c.665G>A (p.Trp222Ter) rs2084297946
NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)
NM_002528.7(NTHL1):c.668G>A (p.Gly223Asp)
NM_002528.7(NTHL1):c.668del (p.Gly223fs)
NM_002528.7(NTHL1):c.66G>A (p.Arg22=) rs755616986
NM_002528.7(NTHL1):c.66G>T (p.Arg22=) rs755616986
NM_002528.7(NTHL1):c.670A>C (p.Thr224Pro) rs2084297825
NM_002528.7(NTHL1):c.670A>G (p.Thr224Ala)
NM_002528.7(NTHL1):c.670A>T (p.Thr224Ser)
NM_002528.7(NTHL1):c.671C>G (p.Thr224Ser)
NM_002528.7(NTHL1):c.671C>T (p.Thr224Ile) rs1596219266
NM_002528.7(NTHL1):c.672T>C (p.Thr224=) rs144204932
NM_002528.7(NTHL1):c.673G>A (p.Val225Met) rs766473490
NM_002528.7(NTHL1):c.674T>C (p.Val225Ala) rs2150941146
NM_002528.7(NTHL1):c.675G>A (p.Val225=)
NM_002528.7(NTHL1):c.675_676del (p.Ser226fs) rs1567369247
NM_002528.7(NTHL1):c.678A>C (p.Ser226=)
NM_002528.7(NTHL1):c.678A>G (p.Ser226=)
NM_002528.7(NTHL1):c.67G>A (p.Gly23Arg)
NM_002528.7(NTHL1):c.680G>C (p.Gly227Ala) rs1055874267
NM_002528.7(NTHL1):c.681C>T (p.Gly227=) rs1596219238
NM_002528.7(NTHL1):c.682A>G (p.Ile228Val) rs1596219234
NM_002528.7(NTHL1):c.684T>C (p.Ile228=) rs1596219230
NM_002528.7(NTHL1):c.685+11G>A
NM_002528.7(NTHL1):c.685+11G>T rs756612488
NM_002528.7(NTHL1):c.685+12A>G rs2150941111
NM_002528.7(NTHL1):c.685+12_685+14del
NM_002528.7(NTHL1):c.685+14G>A rs2150941109
NM_002528.7(NTHL1):c.685+14G>C
NM_002528.7(NTHL1):c.685+15G>A
NM_002528.7(NTHL1):c.685+15del
NM_002528.7(NTHL1):c.685+18G>C
NM_002528.7(NTHL1):c.685+19G>T
NM_002528.7(NTHL1):c.685+2T>C
NM_002528.7(NTHL1):c.685+33C>T
NM_002528.7(NTHL1):c.685+4A>G
NM_002528.7(NTHL1):c.685+5G>A rs953483709
NM_002528.7(NTHL1):c.685+5G>C rs953483709
NM_002528.7(NTHL1):c.685+6T>C rs2150941122
NM_002528.7(NTHL1):c.685+8G>A rs772628458
NM_002528.7(NTHL1):c.685+8G>T
NM_002528.7(NTHL1):c.685+9A>G rs1596219225
NM_002528.7(NTHL1):c.685G>A (p.Ala229Thr)
NM_002528.7(NTHL1):c.686-11C>A
NM_002528.7(NTHL1):c.686-11C>T rs917169108
NM_002528.7(NTHL1):c.686-14T>A
NM_002528.7(NTHL1):c.686-16C>T
NM_002528.7(NTHL1):c.686-17G>A rs779450940
NM_002528.7(NTHL1):c.686-17G>C rs779450940
NM_002528.7(NTHL1):c.686-18C>A rs995139097
NM_002528.7(NTHL1):c.686-19C>T
NM_002528.7(NTHL1):c.686-2A>G rs2150938461
NM_002528.7(NTHL1):c.686-38G>C
NM_002528.7(NTHL1):c.686-3C>T rs2084244745
NM_002528.7(NTHL1):c.686-41_686-10del
NM_002528.7(NTHL1):c.686-5A>C
NM_002528.7(NTHL1):c.686-5A>G rs2150938463
NM_002528.7(NTHL1):c.686-6C>T rs2084244873
NM_002528.7(NTHL1):c.686-8C>T rs962601232
NM_002528.7(NTHL1):c.686-9T>C rs1213514224
NM_002528.7(NTHL1):c.688G>C (p.Val230Leu)
NM_002528.7(NTHL1):c.689T>C (p.Val230Ala)
NM_002528.7(NTHL1):c.689_691del (p.Val230del) rs2084244447
NM_002528.7(NTHL1):c.68G>A (p.Gly23Glu) rs749963973
NM_002528.7(NTHL1):c.68G>C (p.Gly23Ala)
NM_002528.7(NTHL1):c.690G>C (p.Val230=) rs756156987
NM_002528.7(NTHL1):c.692A>G (p.Asp231Gly)
NM_002528.7(NTHL1):c.693C>A (p.Asp231Glu) rs750490014
NM_002528.7(NTHL1):c.693C>G (p.Asp231Glu) rs750490014
NM_002528.7(NTHL1):c.693C>T (p.Asp231=) rs750490014
NM_002528.7(NTHL1):c.694A>C (p.Thr232Pro) rs2150938439
NM_002528.7(NTHL1):c.694_695del (p.Thr232fs)
NM_002528.7(NTHL1):c.695C>A (p.Thr232Lys) rs1308474938
NM_002528.7(NTHL1):c.696G>C (p.Thr232=) rs560239348
NM_002528.7(NTHL1):c.696G>T (p.Thr232=) rs560239348
NM_002528.7(NTHL1):c.697C>A (p.His233Asn)
NM_002528.7(NTHL1):c.697C>T (p.His233Tyr)
NM_002528.7(NTHL1):c.698A>G (p.His233Arg) rs1469572797
NM_002528.7(NTHL1):c.698A>T (p.His233Leu) rs1469572797
NM_002528.7(NTHL1):c.699T>C (p.His233=) rs1596216488
NM_002528.7(NTHL1):c.699_704dup (p.His235_Arg236insValHis)
NM_002528.7(NTHL1):c.69G>A (p.Gly23=) rs767225352
NM_002528.7(NTHL1):c.69G>C (p.Gly23=)
NM_002528.7(NTHL1):c.6C>A (p.Thr2=)
NM_002528.7(NTHL1):c.6C>T (p.Thr2=) rs758854228
NM_002528.7(NTHL1):c.700G>A (p.Val234Met) rs1596216485
NM_002528.7(NTHL1):c.700G>T (p.Val234Leu)
NM_002528.7(NTHL1):c.701T>G (p.Val234Gly)
NM_002528.7(NTHL1):c.702G>A (p.Val234=) rs2150938422
NM_002528.7(NTHL1):c.702G>T (p.Val234=) rs2150938422
NM_002528.7(NTHL1):c.704A>C (p.His235Pro) rs2150938418
NM_002528.7(NTHL1):c.704A>G (p.His235Arg) rs2150938418
NM_002528.7(NTHL1):c.705C>A (p.His235Gln)
NM_002528.7(NTHL1):c.705C>G (p.His235Gln)
NM_002528.7(NTHL1):c.705C>T (p.His235=) rs992194912
NM_002528.7(NTHL1):c.706A>G (p.Arg236Gly) rs2150938413
NM_002528.7(NTHL1):c.707G>T (p.Arg236Ile)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.70T>C (p.Cys24Arg)
NM_002528.7(NTHL1):c.70T>G (p.Cys24Gly)
NM_002528.7(NTHL1):c.710T>C (p.Ile237Thr) rs2084243860
NM_002528.7(NTHL1):c.712G>T (p.Ala238Ser)
NM_002528.7(NTHL1):c.712_713delinsTT (p.Ala238Phe) rs2150938405
NM_002528.7(NTHL1):c.714C>T (p.Ala238=)
NM_002528.7(NTHL1):c.716A>G (p.Asn239Ser)
NM_002528.7(NTHL1):c.716del (p.Asn239fs)
NM_002528.7(NTHL1):c.717C>G (p.Asn239Lys) rs1475205147
NM_002528.7(NTHL1):c.718A>G (p.Arg240Gly) rs1596216455
NM_002528.7(NTHL1):c.719G>C (p.Arg240Thr)
NM_002528.7(NTHL1):c.71G>T (p.Cys24Phe) rs1034291686
NM_002528.7(NTHL1):c.720G>A (p.Arg240=) rs2084243484
NM_002528.7(NTHL1):c.720G>C (p.Arg240Ser) rs2084243484
NM_002528.7(NTHL1):c.721C>G (p.Leu241Val)
NM_002528.7(NTHL1):c.721C>T (p.Leu241=)
NM_002528.7(NTHL1):c.723G>A (p.Leu241=) rs2150938377
NM_002528.7(NTHL1):c.724A>C (p.Arg242=)
NM_002528.7(NTHL1):c.724A>G (p.Arg242Gly) rs2084243378
NM_002528.7(NTHL1):c.725G>A (p.Arg242Lys)
NM_002528.7(NTHL1):c.725G>C (p.Arg242Thr) rs2084243345
NM_002528.7(NTHL1):c.726del (p.Arg242fs) rs2150938370
NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter) rs1184801355
NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)
NM_002528.7(NTHL1):c.729G>C (p.Trp243Cys)
NM_002528.7(NTHL1):c.72T>C (p.Cys24=) rs1265227121
NM_002528.7(NTHL1):c.730A>G (p.Thr244Ala) rs2084243268
NM_002528.7(NTHL1):c.730_731del (p.Thr244fs)
NM_002528.7(NTHL1):c.731C>A (p.Thr244Asn) rs145312239
NM_002528.7(NTHL1):c.731C>T (p.Thr244Ile) rs145312239
NM_002528.7(NTHL1):c.732C>A (p.Thr244=) rs1249284600
NM_002528.7(NTHL1):c.733A>G (p.Lys245Glu)
NM_002528.7(NTHL1):c.735G>A (p.Lys245=)
NM_002528.7(NTHL1):c.736A>G (p.Lys246Glu)
NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter) rs879181418
NM_002528.7(NTHL1):c.736_737delinsGC (p.Lys246Ala)
NM_002528.7(NTHL1):c.737A>C (p.Lys246Thr)
NM_002528.7(NTHL1):c.738G>A (p.Lys246=) rs2150938344
NM_002528.7(NTHL1):c.738G>C (p.Lys246Asn) rs2150938344
NM_002528.7(NTHL1):c.739G>T (p.Ala247Ser)
NM_002528.7(NTHL1):c.73A>C (p.Arg25=)
NM_002528.7(NTHL1):c.73A>T (p.Arg25Trp) rs369039003
NM_002528.7(NTHL1):c.742A>C (p.Thr248Pro)
NM_002528.7(NTHL1):c.743C>A (p.Thr248Asn) rs577781337
NM_002528.7(NTHL1):c.743C>G (p.Thr248Ser) rs577781337
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile) rs577781337
NM_002528.7(NTHL1):c.744C>G (p.Thr248=) rs772742086
NM_002528.7(NTHL1):c.745A>G (p.Lys249Glu)
NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter) rs2150938327
NM_002528.7(NTHL1):c.747G>A (p.Lys249=)
NM_002528.7(NTHL1):c.747G>C (p.Lys249Asn) rs1411465858
NM_002528.7(NTHL1):c.748T>A (p.Ser250Thr) rs199698117
NM_002528.7(NTHL1):c.748T>C (p.Ser250Pro)
NM_002528.7(NTHL1):c.749C>T (p.Ser250Phe) rs1388969000
NM_002528.7(NTHL1):c.74G>T (p.Arg25Met) rs2302172
NM_002528.7(NTHL1):c.752del (p.Pro251fs)
NM_002528.7(NTHL1):c.754GAG[1] (p.Glu253del) rs2150938288
NM_002528.7(NTHL1):c.755A>C (p.Glu252Ala) rs2084242233
NM_002528.7(NTHL1):c.756G>A (p.Glu252=)
NM_002528.7(NTHL1):c.756G>T (p.Glu252Asp) rs2150938294
NM_002528.7(NTHL1):c.758A>G (p.Glu253Gly)
NM_002528.7(NTHL1):c.759G>A (p.Glu253=) rs1342987313
NM_002528.7(NTHL1):c.760A>T (p.Thr254Ser) rs1351830163
NM_002528.7(NTHL1):c.761C>A (p.Thr254Asn) rs749047684
NM_002528.7(NTHL1):c.761C>G (p.Thr254Ser)
NM_002528.7(NTHL1):c.761C>T (p.Thr254Ile) rs749047684
NM_002528.7(NTHL1):c.762C>A (p.Thr254=) rs1460930699
NM_002528.7(NTHL1):c.762C>G (p.Thr254=) rs1460930699
NM_002528.7(NTHL1):c.763C>A (p.Arg255Ser)
NM_002528.7(NTHL1):c.763C>G (p.Arg255Gly) rs779992803
NM_002528.7(NTHL1):c.763del (p.Arg255fs)
NM_002528.7(NTHL1):c.763dup (p.Arg255fs)
NM_002528.7(NTHL1):c.764G>T (p.Arg255Leu)
NM_002528.7(NTHL1):c.766G>T (p.Ala256Ser)
NM_002528.7(NTHL1):c.767C>T (p.Ala256Val)
NM_002528.7(NTHL1):c.768C>A (p.Ala256=) rs781469017
NM_002528.7(NTHL1):c.768C>T (p.Ala256=) rs781469017
NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro) rs148474733
NM_002528.7(NTHL1):c.770C>T (p.Ala257Val)
NM_002528.7(NTHL1):c.771C>T (p.Ala257=) rs1022914690
NM_002528.7(NTHL1):c.772C>T (p.Leu258=)
NM_002528.7(NTHL1):c.773T>C (p.Leu258Pro) rs758733120
NM_002528.7(NTHL1):c.775G>A (p.Glu259Lys)
NM_002528.7(NTHL1):c.777G>A (p.Glu259=) rs1596216334
NM_002528.7(NTHL1):c.777G>T (p.Glu259Asp)
NM_002528.7(NTHL1):c.778G>A (p.Glu260Lys)
NM_002528.7(NTHL1):c.778G>T (p.Glu260Ter)
NM_002528.7(NTHL1):c.779A>T (p.Glu260Val) rs2084241395
NM_002528.7(NTHL1):c.77A>G (p.Glu26Gly)
NM_002528.7(NTHL1):c.780G>A (p.Glu260=) rs2233523
NM_002528.7(NTHL1):c.780G>C (p.Glu260Asp)
NM_002528.7(NTHL1):c.780G>T (p.Glu260Asp)
NM_002528.7(NTHL1):c.781T>C (p.Trp261Arg)
NM_002528.7(NTHL1):c.783G>C (p.Trp261Cys) rs765738378
NM_002528.7(NTHL1):c.785T>C (p.Leu262Pro) rs1315020256
NM_002528.7(NTHL1):c.786G>A (p.Leu262=) rs2150938192
NM_002528.7(NTHL1):c.786G>T (p.Leu262=)
NM_002528.7(NTHL1):c.786_791+20del
NM_002528.7(NTHL1):c.787C>T (p.Pro263Ser)
NM_002528.7(NTHL1):c.788C>T (p.Pro263Leu)
NM_002528.7(NTHL1):c.789T>C (p.Pro263=) rs964969130
NM_002528.7(NTHL1):c.789T>G (p.Pro263=) rs964969130
NM_002528.7(NTHL1):c.789dup (p.Arg264Ter) rs2084241184
NM_002528.7(NTHL1):c.78G>A (p.Glu26=)
NM_002528.7(NTHL1):c.78G>T (p.Glu26Asp) rs2084518192
NM_002528.7(NTHL1):c.790A>G (p.Arg264Gly) rs2150938181
NM_002528.7(NTHL1):c.791+10T>C rs564181825
NM_002528.7(NTHL1):c.791+11G>A
NM_002528.7(NTHL1):c.791+12T>G
NM_002528.7(NTHL1):c.791+13G>C rs773931134
NM_002528.7(NTHL1):c.791+13G>T rs773931134
NM_002528.7(NTHL1):c.791+15G>T
NM_002528.7(NTHL1):c.791+16G>A rs1389536037
NM_002528.7(NTHL1):c.791+16G>C rs1389536037
NM_002528.7(NTHL1):c.791+17G>A rs768211947
NM_002528.7(NTHL1):c.791+18G>A
NM_002528.7(NTHL1):c.791+18del
NM_002528.7(NTHL1):c.791+18dup rs775389995
NM_002528.7(NTHL1):c.791+20T>A
NM_002528.7(NTHL1):c.791+2T>C rs2084241095
NM_002528.7(NTHL1):c.791+35G>A
NM_002528.7(NTHL1):c.791+3A>G rs772690647
NM_002528.7(NTHL1):c.791+4T>C
NM_002528.7(NTHL1):c.791+5G>A rs1596216303
NM_002528.7(NTHL1):c.791+6A>C
NM_002528.7(NTHL1):c.791+6A>G rs2084240987
NM_002528.7(NTHL1):c.791+7G>C
NM_002528.7(NTHL1):c.791+9A>T
NM_002528.7(NTHL1):c.791G>A (p.Arg264Lys) rs2150938174
NM_002528.7(NTHL1):c.791G>C (p.Arg264Thr) rs2150938174
NM_002528.7(NTHL1):c.792-10_792-8del
NM_002528.7(NTHL1):c.792-11C>A rs1297891665
NM_002528.7(NTHL1):c.792-11C>T rs1297891665
NM_002528.7(NTHL1):c.792-11del rs2150938017
NM_002528.7(NTHL1):c.792-12C>T
NM_002528.7(NTHL1):c.792-13C>A
NM_002528.7(NTHL1):c.792-13C>G
NM_002528.7(NTHL1):c.792-14C>T rs1483582201
NM_002528.7(NTHL1):c.792-15C>T
NM_002528.7(NTHL1):c.792-16_792-11dup rs2150938019
NM_002528.7(NTHL1):c.792-19C>T rs555400420
NM_002528.7(NTHL1):c.792-1G>A
NM_002528.7(NTHL1):c.792-1G>C
NM_002528.7(NTHL1):c.792-20C>A
NM_002528.7(NTHL1):c.792-28A>G
NM_002528.7(NTHL1):c.792-2A>G rs2150937989
NM_002528.7(NTHL1):c.792-39C>T
NM_002528.7(NTHL1):c.792-3C>A rs3087467
NM_002528.7(NTHL1):c.792-3C>G rs3087467
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002528.7(NTHL1):c.792-4A>C
NM_002528.7(NTHL1):c.792-5C>A
NM_002528.7(NTHL1):c.792-5C>G
NM_002528.7(NTHL1):c.792-5C>T rs2150937995
NM_002528.7(NTHL1):c.792-5del rs1467923975
NM_002528.7(NTHL1):c.792-6C>A rs766881122
NM_002528.7(NTHL1):c.792-6C>T
NM_002528.7(NTHL1):c.792-7C>A rs1596216178
NM_002528.7(NTHL1):c.792-7C>T rs1596216178
NM_002528.7(NTHL1):c.792-9C>A rs200714075
NM_002528.7(NTHL1):c.792G>A (p.Arg264=)
NM_002528.7(NTHL1):c.792G>C (p.Arg264Ser)
NM_002528.7(NTHL1):c.793G>A (p.Glu265Lys) rs1596216138
NM_002528.7(NTHL1):c.795G>A (p.Glu265=) rs2150937978
NM_002528.7(NTHL1):c.795G>C (p.Glu265Asp)
NM_002528.7(NTHL1):c.796C>T (p.Leu266=)
NM_002528.7(NTHL1):c.796_808del (p.Leu266fs)
NM_002528.7(NTHL1):c.797T>A (p.Leu266Gln)
NM_002528.7(NTHL1):c.797T>C (p.Leu266Pro) rs763770399
NM_002528.7(NTHL1):c.797T>G (p.Leu266Arg)
NM_002528.7(NTHL1):c.798G>A (p.Leu266=)
NM_002528.7(NTHL1):c.799T>C (p.Trp267Arg) rs2150937963
NM_002528.7(NTHL1):c.79G>A (p.Glu27Lys)
NM_002528.7(NTHL1):c.79G>C (p.Glu27Gln) rs2084517936
NM_002528.7(NTHL1):c.79G>T (p.Glu27Ter)
NM_002528.7(NTHL1):c.7G>A (p.Ala3Thr) rs753350404
NM_002528.7(NTHL1):c.7G>C (p.Ala3Pro) rs753350404
NM_002528.7(NTHL1):c.800G>A (p.Trp267Ter)
NM_002528.7(NTHL1):c.804C>G (p.His268Gln) rs1596216112
NM_002528.7(NTHL1):c.804C>T (p.His268=) rs1596216112
NM_002528.7(NTHL1):c.805G>C (p.Glu269Gln) rs895744368
NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)
NM_002528.7(NTHL1):c.806A>G (p.Glu269Gly)
NM_002528.7(NTHL1):c.807G>A (p.Glu269=) rs1426153929
NM_002528.7(NTHL1):c.807G>C (p.Glu269Asp)
NM_002528.7(NTHL1):c.807G>T (p.Glu269Asp)
NM_002528.7(NTHL1):c.808A>G (p.Ile270Val) rs1596216098
NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs) rs2084517687
NM_002528.7(NTHL1):c.810C>A (p.Ile270=)
NM_002528.7(NTHL1):c.811A>C (p.Asn271His)
NM_002528.7(NTHL1):c.812A>C (p.Asn271Thr) rs149287105
NM_002528.7(NTHL1):c.815G>C (p.Gly272Ala) rs2084238027
NM_002528.7(NTHL1):c.816A>G (p.Gly272=)
NM_002528.7(NTHL1):c.817C>T (p.Leu273Phe) rs939350999
NM_002528.7(NTHL1):c.819C>G (p.Leu273=) rs769544798
NM_002528.7(NTHL1):c.81G>C (p.Glu27Asp) rs1596227883
NM_002528.7(NTHL1):c.81G>T (p.Glu27Asp) rs1596227883
NM_002528.7(NTHL1):c.81_82delinsAT (p.Pro28Ser)
NM_002528.7(NTHL1):c.81dup (p.Pro28fs)
NM_002528.7(NTHL1):c.821T>C (p.Leu274Ser) rs1486594694
NM_002528.7(NTHL1):c.822G>T (p.Leu274Phe)
NM_002528.7(NTHL1):c.823G>A (p.Val275Met) rs759411504
NM_002528.7(NTHL1):c.823G>C (p.Val275Leu)
NM_002528.7(NTHL1):c.828C>T (p.Gly276=)
NM_002528.7(NTHL1):c.829_834del (p.Phe277_Gly278del)
NM_002528.7(NTHL1):c.82C>A (p.Pro28Thr)
NM_002528.7(NTHL1):c.82C>G (p.Pro28Ala) rs1056290046
NM_002528.7(NTHL1):c.82C>T (p.Pro28Ser) rs1056290046
NM_002528.7(NTHL1):c.832G>C (p.Gly278Arg)
NM_002528.7(NTHL1):c.833G>A (p.Gly278Asp) rs1209483262
NM_002528.7(NTHL1):c.833G>C (p.Gly278Ala)
NM_002528.7(NTHL1):c.835C>G (p.Gln279Glu)
NM_002528.7(NTHL1):c.836A>G (p.Gln279Arg) rs2150937892
NM_002528.7(NTHL1):c.837G>A (p.Gln279=)
NM_002528.7(NTHL1):c.838C>T (p.Gln280Ter)
NM_002528.7(NTHL1):c.839A>G (p.Gln280Arg)
NM_002528.7(NTHL1):c.83C>A (p.Pro28His)
NM_002528.7(NTHL1):c.83C>T (p.Pro28Leu)
NM_002528.7(NTHL1):c.840G>A (p.Gln280=)
NM_002528.7(NTHL1):c.840G>T (p.Gln280His) rs772318758
NM_002528.7(NTHL1):c.841A>G (p.Thr281Ala)
NM_002528.7(NTHL1):c.842C>T (p.Thr281Ile) rs748379588
NM_002528.7(NTHL1):c.843C>G (p.Thr281=) rs779198160
NM_002528.7(NTHL1):c.843C>T (p.Thr281=)
NM_002528.7(NTHL1):c.844T>C (p.Cys282Arg)
NM_002528.7(NTHL1):c.845G>A (p.Cys282Tyr) rs2150937877
NM_002528.7(NTHL1):c.846T>C (p.Cys282=) rs1430735660
NM_002528.7(NTHL1):c.84C>T (p.Pro28=) rs1297384015
NM_002528.7(NTHL1):c.84del (p.Pro30fs) rs2150957715
NM_002528.7(NTHL1):c.850C>T (p.Pro284Ser) rs2084237330
NM_002528.7(NTHL1):c.850_851dup (p.Val285fs)
NM_002528.7(NTHL1):c.851C>T (p.Pro284Leu)
NM_002528.7(NTHL1):c.852T>A (p.Pro284=)
NM_002528.7(NTHL1):c.852T>C (p.Pro284=)
NM_002528.7(NTHL1):c.853G>A (p.Val285Met) rs2084237234
NM_002528.7(NTHL1):c.853G>C (p.Val285Leu)
NM_002528.7(NTHL1):c.854T>C (p.Val285Ala) rs2150937861
NM_002528.7(NTHL1):c.855G>A (p.Val285=)
NM_002528.7(NTHL1):c.855G>T (p.Val285=)
NM_002528.7(NTHL1):c.855_856delinsTT (p.His286Tyr) rs2084237200
NM_002528.7(NTHL1):c.856C>T (p.His286Tyr)
NM_002528.7(NTHL1):c.857A>G (p.His286Arg)
NM_002528.7(NTHL1):c.858C>G (p.His286Gln)
NM_002528.7(NTHL1):c.859C>G (p.Pro287Ala)
NM_002528.7(NTHL1):c.859C>T (p.Pro287Ser) rs1372041658
NM_002528.7(NTHL1):c.85G>C (p.Gly29Arg) rs1161055704
NM_002528.7(NTHL1):c.861T>C (p.Pro287=)
NM_002528.7(NTHL1):c.862C>T (p.Arg288Cys) rs571813695
NM_002528.7(NTHL1):c.862_874del (p.Arg288fs) rs2084236715
NM_002528.7(NTHL1):c.863G>C (p.Arg288Pro) rs148253565
NM_002528.7(NTHL1):c.869A>G (p.His290Arg) rs2084236840
NM_002528.7(NTHL1):c.869_877del (p.His290_Cys292del)
NM_002528.7(NTHL1):c.872C>A (p.Ala291Asp) rs2150937803
NM_002528.7(NTHL1):c.872C>T (p.Ala291Val)
NM_002528.7(NTHL1):c.873C>G (p.Ala291=)
NM_002528.7(NTHL1):c.873del (p.Cys292fs) rs2084236755
NM_002528.7(NTHL1):c.874T>C (p.Cys292Arg) rs2150937795
NM_002528.7(NTHL1):c.875G>A (p.Cys292Tyr) rs2084236677
NM_002528.7(NTHL1):c.875G>T (p.Cys292Phe)
NM_002528.7(NTHL1):c.877C>A (p.Leu293Ile)
NM_002528.7(NTHL1):c.877C>T (p.Leu293Phe) rs200420874
NM_002528.7(NTHL1):c.87G>C (p.Gly29=) rs775360403
NM_002528.7(NTHL1):c.880A>C (p.Asn294His)
NM_002528.7(NTHL1):c.882C>T (p.Asn294=)
NM_002528.7(NTHL1):c.883C>A (p.Gln295Lys) rs2084236498
NM_002528.7(NTHL1):c.883C>G (p.Gln295Glu) rs2084236498
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)
NM_002528.7(NTHL1):c.884A>C (p.Gln295Pro) rs2084236461
NM_002528.7(NTHL1):c.884A>G (p.Gln295Arg)
NM_002528.7(NTHL1):c.884_888dup (p.Leu297fs)
NM_002528.7(NTHL1):c.887C>A (p.Ala296Asp) rs2084236411
NM_002528.7(NTHL1):c.887C>T (p.Ala296Val) rs2084236411
NM_002528.7(NTHL1):c.888C>G (p.Ala296=)
NM_002528.7(NTHL1):c.888C>T (p.Ala296=) rs939564399
NM_002528.7(NTHL1):c.889C>G (p.Leu297Val) rs770964367
NM_002528.7(NTHL1):c.889C>T (p.Leu297Phe)
NM_002528.7(NTHL1):c.88C>A (p.Pro30Thr)
NM_002528.7(NTHL1):c.88C>T (p.Pro30Ser) rs541004726
NM_002528.7(NTHL1):c.890T>C (p.Leu297Pro) rs2150937774
NM_002528.7(NTHL1):c.893G>A (p.Cys298Tyr)
NM_002528.7(NTHL1):c.895C>A (p.Pro299Thr)
NM_002528.7(NTHL1):c.896C>G (p.Pro299Arg)
NM_002528.7(NTHL1):c.897G>C (p.Pro299=) rs773331581
NM_002528.7(NTHL1):c.897G>T (p.Pro299=) rs773331581
NM_002528.7(NTHL1):c.897_904del (p.Ala300fs) rs1596215933
NM_002528.7(NTHL1):c.899C>A (p.Ala300Asp)
NM_002528.7(NTHL1):c.8C>T (p.Ala3Val)
NM_002528.7(NTHL1):c.900C>A (p.Ala300=)
NM_002528.7(NTHL1):c.902C>T (p.Ala301Val)
NM_002528.7(NTHL1):c.903C>G (p.Ala301=)
NM_002528.7(NTHL1):c.904C>G (p.Gln302Glu)
NM_002528.7(NTHL1):c.904C>T (p.Gln302Ter)
NM_002528.7(NTHL1):c.905A>T (p.Gln302Leu) rs2150937736
NM_002528.7(NTHL1):c.906G>C (p.Gln302His) rs1218521260
NM_002528.7(NTHL1):c.906G>T (p.Gln302His)
NM_002528.7(NTHL1):c.907G>A (p.Gly303Ser)
NM_002528.7(NTHL1):c.908G>A (p.Gly303Asp) rs2084235801
NM_002528.7(NTHL1):c.908G>C (p.Gly303Ala) rs2084235801
NM_002528.7(NTHL1):c.908G>T (p.Gly303Val) rs2084235801
NM_002528.7(NTHL1):c.908_909delinsAA (p.Gly303Glu) rs2084235765
NM_002528.7(NTHL1):c.909T>C (p.Gly303=)
NM_002528.7(NTHL1):c.910C>A (p.Leu304Ile)
NM_002528.7(NTHL1):c.911T>A (p.Leu304His) rs1395305678
NM_002528.7(NTHL1):c.912_913del (p.Ter305MetextTer?)
NM_002528.7(NTHL1):c.912_913dup (p.Ter305SerextTer?) rs2150937701
NM_002528.7(NTHL1):c.913T>C (p.Ter305Arg) rs778951506
NM_002528.7(NTHL1):c.914G>A (p.Ter305=)
NM_002528.7(NTHL1):c.915A>G (p.Ter305Trp) rs2150937695
NM_002528.7(NTHL1):c.915_*16dup (p.Leu304_Ter305=)
NM_002528.7(NTHL1):c.92T>C (p.Leu31Pro)
NM_002528.7(NTHL1):c.93C>A (p.Leu31=) rs1171088713
NM_002528.7(NTHL1):c.94C>G (p.Arg32Gly) rs1285624591
NM_002528.7(NTHL1):c.95G>A (p.Arg32Gln) rs1411639953
NM_002528.7(NTHL1):c.96G>C (p.Arg32=) rs1596227764
NM_002528.7(NTHL1):c.97A>C (p.Arg33=)
NM_002528.7(NTHL1):c.97A>G (p.Arg33Gly)

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