ClinVar Miner

List of variants in gene NTHL1 studied for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 769
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HGVS dbSNP gnomAD frequency
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.712G>A (p.Ala238Thr) rs147559648 0.00043
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.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.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.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.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.764G>A (p.Arg255His) rs756036462 0.00007
NM_002528.7(NTHL1):c.85G>A (p.Gly29Arg) rs1161055704 0.00007
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.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.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.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.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.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.615G>A (p.Ala205=) rs779702263 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_002528.6(NTHL1):c.10C>T (p.Pro4Ser) 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.115G>C (p.Glu39Gln) rs1274541982 0.00001
NM_002528.7(NTHL1):c.116-3C>T rs370654050 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>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.282G>C (p.Met94Ile) rs1276674075 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.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.373C>A (p.Leu125Met) rs1397440217 0.00001
NM_002528.7(NTHL1):c.380C>T (p.Ser127Leu) rs757412628 0.00001
NM_002528.7(NTHL1):c.388C>G (p.Leu130Val) rs1177580110 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.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.525G>A (p.Arg175=) rs746192138 0.00001
NM_002528.7(NTHL1):c.526-10T>A rs199771569 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+1G>A rs372946560 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.784C>G (p.Leu262Val) rs1252431964 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
NM_002528.6(NTHL1):c.11C>G (p.Pro4Arg)
NM_002528.6(NTHL1):c.12G>T (p.Pro4=)
NM_002528.7(NTHL1):c.-10G>A
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.-3G>A rs751927624
NM_002528.7(NTHL1):c.-3G>C rs751927624
NM_002528.7(NTHL1):c.-3G>T rs751927624
NM_002528.7(NTHL1):c.-5C>G rs552723791
NM_002528.7(NTHL1):c.-5C>T
NM_002528.7(NTHL1):c.-6T>G
NM_002528.7(NTHL1):c.-8A>C rs566165031
NM_002528.7(NTHL1):c.-8A>T rs566165031
NM_002528.7(NTHL1):c.106G>T (p.Ala36Ser) rs2150957402
NM_002528.7(NTHL1):c.109G>A (p.Ala37Thr)
NM_002528.7(NTHL1):c.10T>C (p.Leu4=)
NM_002528.7(NTHL1):c.110C>T (p.Ala37Val) rs1482983792
NM_002528.7(NTHL1):c.115+4G>A rs780886475
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.116-9dup rs1596223593
NM_002528.7(NTHL1):c.117A>C (p.Glu39Asp)
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.126A>T (p.Lys42Asn) rs1015408170
NM_002528.7(NTHL1):c.127A>C (p.Ser43Arg)
NM_002528.7(NTHL1):c.12G>A (p.Leu4=)
NM_002528.7(NTHL1):c.130C>G (p.His44Asp) 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>T (p.His44=)
NM_002528.7(NTHL1):c.135C>T (p.Ser45=) rs2150947604
NM_002528.7(NTHL1):c.136C>A (p.Pro46Thr)
NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)
NM_002528.7(NTHL1):c.139G>C (p.Val47Leu)
NM_002528.7(NTHL1):c.142A>G (p.Lys48Glu) rs2150947503
NM_002528.7(NTHL1):c.144G>A (p.Lys48=)
NM_002528.7(NTHL1):c.148C>T (p.Pro50Ser)
NM_002528.7(NTHL1):c.14G>C (p.Ser5Thr) rs750166500
NM_002528.7(NTHL1):c.152G>A (p.Arg51Gln) rs773364076
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.15C>A (p.Ser5Arg) rs1596228346
NM_002528.7(NTHL1):c.15C>G (p.Ser5Arg) rs1596228346
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs) rs2150947238
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.168G>A (p.Leu56=) rs2150947154
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.172G>A (p.Val58Met) rs1177326558
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu) rs1177326558
NM_002528.7(NTHL1):c.178T>C (p.Tyr60His) rs2084381789
NM_002528.7(NTHL1):c.179A>G (p.Tyr60Cys) rs776076209
NM_002528.7(NTHL1):c.181G>C (p.Glu61Gln) rs1429511641
NM_002528.7(NTHL1):c.183G>C (p.Glu61Asp) rs1596223267
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.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.192C>G (p.Asp64Glu) rs2084379378
NM_002528.7(NTHL1):c.193A>C (p.Ser65Arg)
NM_002528.7(NTHL1):c.194G>A (p.Ser65Asn) rs747885276
NM_002528.7(NTHL1):c.194G>C (p.Ser65Thr)
NM_002528.7(NTHL1):c.198G>A (p.Glu66=)
NM_002528.7(NTHL1):c.1A>C (p.Met1Leu)
NM_002528.7(NTHL1):c.209G>A (p.Gly70Glu) rs1422162562
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.211dup (p.Ala71fs) rs745671590
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>G (p.Glu72Gly) rs1232383882
NM_002528.7(NTHL1):c.216G>T (p.Glu72Asp)
NM_002528.7(NTHL1):c.216_217delinsTT (p.Glu72_Pro73delinsAspSer)
NM_002528.7(NTHL1):c.217C>T (p.Pro73Ser)
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>T (p.Arg7Ser) rs762030002
NM_002528.7(NTHL1):c.225G>A (p.Lys75=)
NM_002528.7(NTHL1):c.226del (p.Val76fs)
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.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.234dup (p.Trp79fs) rs2150946400
NM_002528.7(NTHL1):c.239del (p.Glu80fs) rs2150946310
NM_002528.7(NTHL1):c.240G>A (p.Glu80=)
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.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.24G>A (p.Met8Ile)
NM_002528.7(NTHL1):c.251G>T (p.Trp84Leu) rs1375251505
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.259C>G (p.Gln87Glu) rs201671098
NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter) rs201671098
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>T (p.Leu88=) rs1009261529
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.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.270C>T (p.Asn90=)
NM_002528.7(NTHL1):c.275G>C (p.Arg92Pro) rs145644817
NM_002528.7(NTHL1):c.276T>G (p.Arg92=)
NM_002528.7(NTHL1):c.278C>T (p.Ala93Val)
NM_002528.7(NTHL1):c.27G>A (p.Leu9=) rs2150958575
NM_002528.7(NTHL1):c.280A>G (p.Met94Val)
NM_002528.7(NTHL1):c.283A>G (p.Arg95Gly)
NM_002528.7(NTHL1):c.284G>A (p.Arg95Lys) rs2084369533
NM_002528.7(NTHL1):c.287A>G (p.Asn96Ser) rs1455998081
NM_002528.7(NTHL1):c.288C>T (p.Asn96=)
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.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>C (p.Met1Thr) rs764604281
NM_002528.7(NTHL1):c.301C>T (p.Pro101Ser) rs2084366760
NM_002528.7(NTHL1):c.307dup (p.Asp103fs) rs2150945390
NM_002528.7(NTHL1):c.308A>G (p.Asp103Gly) rs747659604
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.312T>G (p.His104Gln)
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.316G>A (p.Gly106Arg) rs2150945247
NM_002528.7(NTHL1):c.318G>T (p.Gly106=)
NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro) rs1015524126
NM_002528.7(NTHL1):c.31C>G (p.Arg11Gly) rs549760347
NM_002528.7(NTHL1):c.321T>C (p.Thr107=)
NM_002528.7(NTHL1):c.322G>A (p.Glu108Lys) rs1596222596
NM_002528.7(NTHL1):c.323A>G (p.Glu108Gly)
NM_002528.7(NTHL1):c.325C>T (p.His109Tyr)
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>T (p.Cys110Phe) rs2150945115
NM_002528.7(NTHL1):c.32G>C (p.Arg11Pro) 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.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>C (p.Arg11=)
NM_002528.7(NTHL1):c.341G>C (p.Ser114Thr)
NM_002528.7(NTHL1):c.342T>G (p.Ser114Arg) rs2084362839
NM_002528.7(NTHL1):c.344C>A (p.Ala115Asp) rs745986873
NM_002528.7(NTHL1):c.346C>T (p.Pro116Ser) rs143696592
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.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.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.354+4G>C
NM_002528.7(NTHL1):c.354G>A (p.Lys118=)
NM_002528.7(NTHL1):c.355-3C>T rs1188936333
NM_002528.7(NTHL1):c.355-4G>C rs1245963500
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.357A>C (p.Val119=) rs776325627
NM_002528.7(NTHL1):c.357A>G (p.Val119=) rs776325627
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.360C>T (p.Arg120=) rs566860680
NM_002528.7(NTHL1):c.362G>A (p.Arg121Lys)
NM_002528.7(NTHL1):c.363G>A (p.Arg121=) rs1048431740
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter) 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>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.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.37C>A (p.Arg13=) rs3087469
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.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.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.396C>A (p.Ser132Arg)
NM_002528.7(NTHL1):c.396C>T (p.Ser132=)
NM_002528.7(NTHL1):c.39G>C (p.Arg13=) rs1282431142
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.406G>C (p.Asp136His)
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.410A>G (p.Gln137Arg)
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.416CGG[1] (p.Ala140del) rs774894275
NM_002528.7(NTHL1):c.417_436dup (p.Leu146fs)
NM_002528.7(NTHL1):c.420G>C (p.Ala140=)
NM_002528.7(NTHL1):c.428T>C (p.Met143Thr) rs759156239
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
NM_002528.7(NTHL1):c.429G>T (p.Met143Ile) rs1461262968
NM_002528.7(NTHL1):c.42C>T (p.Ser14=) rs898348644
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
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>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>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.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.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.450C>T (p.Gly150=) rs962452543
NM_002528.7(NTHL1):c.451C>T (p.Leu151=) rs2150942315
NM_002528.7(NTHL1):c.453G>T (p.Leu151=)
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>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.460del (p.Asp154fs) rs1596220332
NM_002528.7(NTHL1):c.465C>T (p.Ser155=)
NM_002528.7(NTHL1):c.466A>T (p.Ile156Phe)
NM_002528.7(NTHL1):c.468C>T (p.Ile156=) rs752220394
NM_002528.7(NTHL1):c.469C>T (p.Leu157=)
NM_002528.7(NTHL1):c.471G>A (p.Leu157=)
NM_002528.7(NTHL1):c.474G>T (p.Gln158His)
NM_002528.7(NTHL1):c.476C>G (p.Thr159Arg) rs968060928
NM_002528.7(NTHL1):c.479A>T (p.Asp160Val)
NM_002528.7(NTHL1):c.479ATG[1] (p.Asp161del)
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.484G>A (p.Ala162Thr) rs2150942251
NM_002528.7(NTHL1):c.487_505delinsC (p.Thr163_Tyr169delinsHis) rs2084316527
NM_002528.7(NTHL1):c.489G>T (p.Thr163=) rs760491144
NM_002528.7(NTHL1):c.490C>T (p.Leu164=)
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.502A>C (p.Ile168Leu)
NM_002528.7(NTHL1):c.502A>G (p.Ile168Val) rs1596220283
NM_002528.7(NTHL1):c.507C>T (p.Tyr169=)
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>T (p.Pro17Leu)
NM_002528.7(NTHL1):c.510C>A (p.Pro170=)
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.514G>A (p.Gly172Ser) rs1567369944
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.521G>C (p.Trp174Ser)
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.525+3G>T rs2084315929
NM_002528.7(NTHL1):c.526-2A>G
NM_002528.7(NTHL1):c.526-3C>T rs2084301468
NM_002528.7(NTHL1):c.528C>T (p.Ser176=) rs202246675
NM_002528.7(NTHL1):c.52G>C (p.Gly18Arg) rs1456331577
NM_002528.7(NTHL1):c.530A>G (p.Lys177Arg) rs1463175465
NM_002528.7(NTHL1):c.531G>A (p.Lys177=)
NM_002528.7(NTHL1):c.532G>C (p.Val178Leu) rs2084301329
NM_002528.7(NTHL1):c.534G>A (p.Val178=) rs1596219446
NM_002528.7(NTHL1):c.536A>G (p.Lys179Arg)
NM_002528.7(NTHL1):c.53G>A (p.Gly18Glu)
NM_002528.7(NTHL1):c.541A>G (p.Ile181Val) rs2084301185
NM_002528.7(NTHL1):c.543C>T (p.Ile181=)
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
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.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.554G>C (p.Ser185Thr)
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.569A>T (p.Gln190Leu) rs2084300404
NM_002528.7(NTHL1):c.570G>A (p.Gln190=)
NM_002528.7(NTHL1):c.572A>G (p.His191Arg) rs1226532313
NM_002528.7(NTHL1):c.574T>G (p.Tyr192Asp) rs2084300211
NM_002528.7(NTHL1):c.577G>C (p.Gly193Arg) rs200007034
NM_002528.7(NTHL1):c.581G>A (p.Gly194Glu)
NM_002528.7(NTHL1):c.582G>A (p.Gly194=) rs1025984433
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.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.59G>A (p.Gly20Glu) rs1430939825
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.607C>G (p.Leu203Val) rs369076851
NM_002528.7(NTHL1):c.610G>C (p.Val204Leu)
NM_002528.7(NTHL1):c.610G>T (p.Val204Leu)
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>T (p.Leu206=) rs2084298971
NM_002528.7(NTHL1):c.618G>A (p.Leu206=)
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.621G>C (p.Pro207=) rs745383145
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.629G>C (p.Gly210Ala) rs2084298566
NM_002528.7(NTHL1):c.62C>T (p.Pro21Leu) rs753200685
NM_002528.7(NTHL1):c.632C>G (p.Pro211Arg)
NM_002528.7(NTHL1):c.633dup (p.Lys212fs)
NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln) rs1247089981
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.646C>G (p.Leu216Val)
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.65G>T (p.Arg22Leu) rs779612126
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>T (p.Ala221Val)
NM_002528.7(NTHL1):c.663C>A (p.Ala221=)
NM_002528.7(NTHL1):c.668G>A (p.Gly223Asp)
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.671C>T (p.Thr224Ile) rs1596219266
NM_002528.7(NTHL1):c.673G>A (p.Val225Met) rs766473490
NM_002528.7(NTHL1):c.675G>A (p.Val225=)
NM_002528.7(NTHL1):c.681C>T (p.Gly227=) rs1596219238
NM_002528.7(NTHL1):c.685+5G>A rs953483709
NM_002528.7(NTHL1):c.686-2A>G rs2150938461
NM_002528.7(NTHL1):c.686-3C>T rs2084244745
NM_002528.7(NTHL1):c.68G>A (p.Gly23Glu) rs749963973
NM_002528.7(NTHL1):c.690G>C (p.Val230=) rs756156987
NM_002528.7(NTHL1):c.693C>A (p.Asp231Glu) rs750490014
NM_002528.7(NTHL1):c.694A>C (p.Thr232Pro) rs2150938439
NM_002528.7(NTHL1):c.696G>C (p.Thr232=) rs560239348
NM_002528.7(NTHL1):c.698A>G (p.His233Arg) rs1469572797
NM_002528.7(NTHL1):c.699T>C (p.His233=) rs1596216488
NM_002528.7(NTHL1):c.69G>A (p.Gly23=) rs767225352
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.702G>A (p.Val234=) rs2150938422
NM_002528.7(NTHL1):c.704A>G (p.His235Arg) rs2150938418
NM_002528.7(NTHL1):c.705C>G (p.His235Gln)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.70T>C (p.Cys24Arg)
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.720G>A (p.Arg240=) rs2084243484
NM_002528.7(NTHL1):c.721C>G (p.Leu241Val)
NM_002528.7(NTHL1):c.724A>C (p.Arg242=)
NM_002528.7(NTHL1):c.724A>G (p.Arg242Gly) rs2084243378
NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter) rs1184801355
NM_002528.7(NTHL1):c.72T>C (p.Cys24=) rs1265227121
NM_002528.7(NTHL1):c.731C>T (p.Thr244Ile) rs145312239
NM_002528.7(NTHL1):c.735G>A (p.Lys245=)
NM_002528.7(NTHL1):c.736A>G (p.Lys246Glu)
NM_002528.7(NTHL1):c.736_737delinsGC (p.Lys246Ala)
NM_002528.7(NTHL1):c.737A>C (p.Lys246Thr)
NM_002528.7(NTHL1):c.73A>T (p.Arg25Trp) rs369039003
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.747G>A (p.Lys249=)
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.755A>C (p.Glu252Ala) rs2084242233
NM_002528.7(NTHL1):c.756G>T (p.Glu252Asp) rs2150938294
NM_002528.7(NTHL1):c.761C>G (p.Thr254Ser)
NM_002528.7(NTHL1):c.762C>A (p.Thr254=) rs1460930699
NM_002528.7(NTHL1):c.763C>G (p.Arg255Gly) rs779992803
NM_002528.7(NTHL1):c.764G>T (p.Arg255Leu)
NM_002528.7(NTHL1):c.767C>T (p.Ala256Val)
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.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.778G>A (p.Glu260Lys)
NM_002528.7(NTHL1):c.786G>A (p.Leu262=) rs2150938192
NM_002528.7(NTHL1):c.787C>T (p.Pro263Ser)
NM_002528.7(NTHL1):c.789T>G (p.Pro263=) rs964969130
NM_002528.7(NTHL1):c.78G>A (p.Glu26=)
NM_002528.7(NTHL1):c.791+2T>C rs2084241095
NM_002528.7(NTHL1):c.791+3A>G rs772690647
NM_002528.7(NTHL1):c.792-1G>A
NM_002528.7(NTHL1):c.792-2A>G rs2150937989
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.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>C (p.Glu265Asp)
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.79G>A (p.Glu27Lys)
NM_002528.7(NTHL1):c.79G>C (p.Glu27Gln) rs2084517936
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.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.806A>G (p.Glu269Gly)
NM_002528.7(NTHL1):c.807G>A (p.Glu269=) rs1426153929
NM_002528.7(NTHL1):c.807G>T (p.Glu269Asp)
NM_002528.7(NTHL1):c.810C>A (p.Ile270=)
NM_002528.7(NTHL1):c.812A>C (p.Asn271Thr) rs149287105
NM_002528.7(NTHL1):c.816A>G (p.Gly272=)
NM_002528.7(NTHL1):c.81G>C (p.Glu27Asp) rs1596227883
NM_002528.7(NTHL1):c.81_82delinsAT (p.Pro28Ser)
NM_002528.7(NTHL1):c.823G>A (p.Val275Met) rs759411504
NM_002528.7(NTHL1):c.828C>T (p.Gly276=)
NM_002528.7(NTHL1):c.82C>A (p.Pro28Thr)
NM_002528.7(NTHL1):c.82C>T (p.Pro28Ser) rs1056290046
NM_002528.7(NTHL1):c.832G>C (p.Gly278Arg)
NM_002528.7(NTHL1):c.838C>T (p.Gln280Ter)
NM_002528.7(NTHL1):c.840G>A (p.Gln280=)
NM_002528.7(NTHL1):c.842C>T (p.Thr281Ile) rs748379588
NM_002528.7(NTHL1):c.843C>T (p.Thr281=)
NM_002528.7(NTHL1):c.844T>C (p.Cys282Arg)
NM_002528.7(NTHL1):c.846T>C (p.Cys282=) rs1430735660
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.857A>G (p.His286Arg)
NM_002528.7(NTHL1):c.858C>G (p.His286Gln)
NM_002528.7(NTHL1):c.862C>T (p.Arg288Cys) rs571813695
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.872C>T (p.Ala291Val)
NM_002528.7(NTHL1):c.875G>T (p.Cys292Phe)
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.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>G (p.Gln295Arg)
NM_002528.7(NTHL1):c.887C>T (p.Ala296Val) rs2084236411
NM_002528.7(NTHL1):c.889C>G (p.Leu297Val) rs770964367
NM_002528.7(NTHL1):c.889C>T (p.Leu297Phe)
NM_002528.7(NTHL1):c.890T>C (p.Leu297Pro) rs2150937774
NM_002528.7(NTHL1):c.896C>G (p.Pro299Arg)
NM_002528.7(NTHL1):c.897G>T (p.Pro299=) rs773331581
NM_002528.7(NTHL1):c.899C>A (p.Ala300Asp)
NM_002528.7(NTHL1):c.902C>T (p.Ala301Val)
NM_002528.7(NTHL1):c.907G>A (p.Gly303Ser)
NM_002528.7(NTHL1):c.909T>C (p.Gly303=)
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.914G>A (p.Ter305=)
NM_002528.7(NTHL1):c.915A>G (p.Ter305Trp) rs2150937695
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.97A>C (p.Arg33=)

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