ClinVar Miner

List of variants reported as uncertain significance for disorder of tyrosine metabolism

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 750
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000353.3(TAT):c.*852G>A rs191942931 0.00427
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_000353.3(TAT):c.*409G>A rs572677025 0.00387
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000187.3(HGD):c.-207G>A rs147272996 0.00306
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_000353.3(TAT):c.*581G>A rs141029428 0.00106
NM_000187.3(HGD):c.-452G>T rs142298361 0.00099
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000187.3(HGD):c.-383C>G rs148732655 0.00089
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000187.3(HGD):c.*210G>A rs768955353 0.00061
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00052
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_000137.4(FAH):c.81+12G>A rs200319726 0.00048
NM_002150.3(HPD):c.294C>T (p.Phe98=) rs117079110 0.00048
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00041
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_000137.4(FAH):c.462C>A (p.His154Gln) rs144234072 0.00038
NM_002150.3(HPD):c.*191C>T rs886049036 0.00038
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000187.4(HGD):c.*32G>A rs376051958 0.00035
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000353.3(TAT):c.1046A>G (p.Asn349Ser) rs138304751 0.00029
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000187.3(HGD):c.-221G>A rs535973482 0.00026
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000360.4(TH):c.1349G>A (p.Arg450His) rs138291013 0.00023
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000187.4(HGD):c.835C>A (p.Leu279Met) rs200382812 0.00022
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543 0.00022
NM_000137.4(FAH):c.-23A>C rs200127538 0.00019
NM_000353.3(TAT):c.*219G>A rs183020305 0.00019
NM_000353.3(TAT):c.*30C>A rs375492740 0.00019
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000137.2(FAH):c.-67C>A rs886051495 0.00014
NM_000137.4(FAH):c.-43G>T rs200704926 0.00014
NM_002150.3(HPD):c.331C>T (p.Arg111Trp) rs117839625 0.00014
NM_000137.4(FAH):c.-40C>G rs371100968 0.00013
NM_000137.4(FAH):c.583C>G (p.Leu195Val) rs1002962662 0.00013
NM_000187.4(HGD):c.1176C>T (p.Ala392=) rs368805723 0.00013
NM_000187.4(HGD):c.567C>G (p.Ser189Arg) rs750428921 0.00013
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000137.4(FAH):c.864C>T (p.Cys288=) rs370273424 0.00012
NM_000187.3(HGD):c.-218A>G rs553200191 0.00012
NM_000353.3(TAT):c.-7G>A rs201879651 0.00012
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000187.4(HGD):c.*155A>G rs776810530 0.00011
NM_000187.4(HGD):c.141G>A (p.Ser47=) rs541268108 0.00011
NM_000187.4(HGD):c.752G>A (p.Gly251Asp) rs781011621 0.00011
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000137.4(FAH):c.412G>A (p.Gly138Arg) rs143243347 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000137.4(FAH):c.841C>A (p.Pro281Thr) rs199820704 0.00010
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.127G>A (p.Glu43Lys) rs772029518 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.576G>A (p.Pro192=) rs201809787 0.00010
NM_002150.3(HPD):c.941T>C (p.Ile314Thr) rs376100037 0.00010
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu) rs372685249 0.00009
NM_000187.4(HGD):c.1206A>G (p.Ser402=) rs140500816 0.00009
NM_000353.3(TAT):c.1178C>T (p.Thr393Met) rs142634310 0.00009
NM_000360.4(TH):c.90G>A (p.Met30Ile) rs147416823 0.00009
NM_000353.3(TAT):c.890G>A (p.Arg297Gln) rs367954923 0.00008
NM_000360.4(TH):c.1475C>T (p.Ala492Val) rs201219944 0.00008
NM_000360.4(TH):c.576+6_576+14del rs775531779 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_002150.3(HPD):c.356G>A (p.Arg119Gln) rs149180825 0.00008
NM_000353.3(TAT):c.1281G>A (p.Met427Ile) rs201364717 0.00007
NM_000360.4(TH):c.1024C>T (p.Arg342Cys) rs555810288 0.00007
NM_000360.4(TH):c.167C>T (p.Ala56Val) rs745974715 0.00007
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.645C>T (p.His215=) rs768037080 0.00007
NM_002150.3(HPD):c.*65A>G rs931600760 0.00007
NM_002150.3(HPD):c.815A>G (p.Glu272Gly) rs375083142 0.00007
NM_000137.4(FAH):c.*138G>A rs374613273 0.00006
NM_000137.4(FAH):c.302A>G (p.Glu101Gly) rs758347578 0.00006
NM_000187.4(HGD):c.-19C>T rs376849236 0.00006
NM_000187.4(HGD):c.550-14G>C rs769000073 0.00006
NM_000187.4(HGD):c.794T>C (p.Val265Ala) rs554816026 0.00006
NM_000353.3(TAT):c.1090C>T (p.Arg364Trp) rs371975183 0.00006
NM_000353.3(TAT):c.231C>A (p.Ser77=) rs562235592 0.00006
NM_000353.3(TAT):c.548T>C (p.Val183Ala) rs770033832 0.00006
NM_000353.3(TAT):c.759+5G>A rs767912599 0.00006
NM_000360.4(TH):c.*54C>T rs1008333072 0.00006
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.394G>A (p.Val132Met) rs751702426 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.674C>A (p.Thr225Asn) rs141907589 0.00006
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000360.4(TH):c.1277C>T (p.Thr426Met) rs201330304 0.00005
NM_000360.4(TH):c.19A>C (p.Thr7Pro) rs768150949 0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00005
NM_002150.3(HPD):c.914C>T (p.Thr305Met) rs200010805 0.00005
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln) rs903038605 0.00004
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys) rs780378868 0.00004
NM_000137.4(FAH):c.322A>G (p.Ile108Val) rs747942022 0.00004
NM_000137.4(FAH):c.484C>T (p.Arg162Cys) rs959533704 0.00004
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000137.4(FAH):c.978G>T (p.Met326Ile) rs374655382 0.00004
NM_000187.4(HGD):c.*145C>T rs1011081332 0.00004
NM_000187.4(HGD):c.177-5T>C rs768308376 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000353.3(TAT):c.*713T>G rs188382310 0.00004
NM_000353.3(TAT):c.-12-4G>A rs372540650 0.00004
NM_000353.3(TAT):c.578C>A (p.Ser193Tyr) rs142154262 0.00004
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.758A>T (p.Glu253Val) rs369397659 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000360.4(TH):c.90+7G>T rs746965239 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000360.4(TH):c.931A>G (p.Thr311Ala) rs1016513333 0.00004
NM_000360.4(TH):c.950C>G (p.Ala317Gly) rs370710158 0.00004
NM_000360.4(TH):c.978-3C>A rs754735292 0.00004
NM_002150.3(HPD):c.544G>A (p.Asp182Asn) rs750446552 0.00004
NM_002150.3(HPD):c.5C>T (p.Thr2Met) rs774495352 0.00004
NM_002150.3(HPD):c.61T>C (p.Ser21Pro) rs776782918 0.00004
NM_002150.3(HPD):c.634G>A (p.Val212Met) rs780501941 0.00004
NM_002150.3(HPD):c.915G>A (p.Thr305=) rs751753975 0.00004
NM_000137.4(FAH):c.1029G>A (p.Gly343=) rs772334351 0.00003
NM_000137.4(FAH):c.10A>C (p.Ile4Leu) rs754336457 0.00003
NM_000137.4(FAH):c.1195G>C (p.Asp399His) rs1449927772 0.00003
NM_000137.4(FAH):c.82-3T>C rs368921640 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000187.3(HGD):c.-446G>T rs541656880 0.00003
NM_000187.4(HGD):c.-100G>A rs547960368 0.00003
NM_000187.4(HGD):c.709C>T (p.Arg237Cys) rs1171237852 0.00003
NM_000187.4(HGD):c.765T>C (p.Ala255=) rs747764475 0.00003
NM_000187.4(HGD):c.920G>A (p.Arg307His) rs752719362 0.00003
NM_000187.4(HGD):c.990G>T (p.Arg330Ser) rs120074171 0.00003
NM_000353.3(TAT):c.*252C>G rs886052269 0.00003
NM_000353.3(TAT):c.*81G>A rs886052272 0.00003
NM_000353.3(TAT):c.339C>T (p.Ile113=) rs764951157 0.00003
NM_000360.4(TH):c.1102A>T (p.Thr368Ser) rs537643329 0.00003
NM_000360.4(TH):c.1237G>A (p.Asp413Asn) rs201996748 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000360.4(TH):c.649G>A (p.Asp217Asn) rs371488205 0.00003
NM_000360.4(TH):c.779G>T (p.Arg260Leu) rs372142970 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr) rs142321451 0.00003
NM_000137.4(FAH):c.*129T>C rs968507766 0.00002
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln) rs770665329 0.00002
NM_000137.4(FAH):c.341C>T (p.Thr114Met) rs772014160 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000137.4(FAH):c.567A>G (p.Val189=) rs750785945 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.89C>T (p.Pro30Leu) rs776178600 0.00002
NM_000187.4(HGD):c.58C>T (p.Arg20Cys) rs755454185 0.00002
NM_000353.3(TAT):c.-12-1G>A rs777389158 0.00002
NM_000353.3(TAT):c.224C>T (p.Ser75Phe) rs773076331 0.00002
NM_000353.3(TAT):c.269A>G (p.Asp90Gly) rs886052275 0.00002
NM_000353.3(TAT):c.340G>A (p.Gly114Ser) rs759311161 0.00002
NM_000353.3(TAT):c.401A>G (p.Glu134Gly) rs1194073307 0.00002
NM_000353.3(TAT):c.683G>C (p.Arg228Pro) rs554840029 0.00002
NM_000360.4(TH):c.1084G>A (p.Glu362Lys) rs776917257 0.00002
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) rs367874223 0.00002
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) rs375084700 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=) rs773288225 0.00002
NM_000360.4(TH):c.220G>C (p.Glu74Gln) rs748493792 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000360.4(TH):c.386A>C (p.Glu129Ala) rs745829277 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000360.4(TH):c.793C>G (p.Arg265Gly) rs1203763637 0.00002
NM_000360.4(TH):c.98G>A (p.Arg33Gln) rs996766545 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_002150.2(HPD):c.*202T>A rs1352129485 0.00002
NM_002150.3(HPD):c.157G>A (p.Gly53Ser) rs758064577 0.00002
NM_002150.3(HPD):c.778G>A (p.Gly260Arg) rs755816788 0.00002
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00002
NM_000137.3(FAH):c.*288G>A rs1488863066 0.00001
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr) rs376563006 0.00001
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser) rs779705179 0.00001
NM_000137.4(FAH):c.109G>A (p.Gly37Ser) rs761938144 0.00001
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg) rs753539920 0.00001
NM_000137.4(FAH):c.1180+10G>A rs758464032 0.00001
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu) rs1341466471 0.00001
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr) rs1595899559 0.00001
NM_000137.4(FAH):c.155G>A (p.Gly52Asp) rs780944655 0.00001
NM_000137.4(FAH):c.291A>C (p.Arg97Ser) rs754226189 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000137.4(FAH):c.407A>G (p.Asn136Ser) rs768365621 0.00001
NM_000137.4(FAH):c.437A>G (p.Asn146Ser) rs754012972 0.00001
NM_000137.4(FAH):c.692T>C (p.Met231Thr) rs772824887 0.00001
NM_000137.4(FAH):c.787G>A (p.Val263Met) rs1168279912 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000187.3(HGD):c.-255G>T rs886057820 0.00001
NM_000187.4(HGD):c.-13G>C rs775087041 0.00001
NM_000187.4(HGD):c.-18A>G rs755624842 0.00001
NM_000187.4(HGD):c.1266C>T (p.Asn422=) rs1417213536 0.00001
NM_000187.4(HGD):c.307C>A (p.Pro103Thr) rs559502955 0.00001
NM_000187.4(HGD):c.434+8G>T rs745572601 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.587C>T (p.Thr196Ile) rs781491692 0.00001
NM_000187.4(HGD):c.710G>A (p.Arg237His) rs866509210 0.00001
NM_000187.4(HGD):c.923C>G (p.Pro308Arg) rs201529624 0.00001
NM_000187.4(HGD):c.967G>A (p.Gly323Arg) rs762564483 0.00001
NM_000353.3(TAT):c.*1055A>G rs886052265 0.00001
NM_000353.3(TAT):c.*1066G>A rs886052264 0.00001
NM_000353.3(TAT):c.*251T>A rs886052270 0.00001
NM_000353.3(TAT):c.*742G>A rs527799557 0.00001
NM_000353.3(TAT):c.*983A>G rs886052266 0.00001
NM_000353.3(TAT):c.1042-12C>T rs748571289 0.00001
NM_000353.3(TAT):c.1146T>C (p.His382=) rs141534499 0.00001
NM_000353.3(TAT):c.1223C>T (p.Thr408Met) rs200815080 0.00001
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln) rs757879229 0.00001
NM_000353.3(TAT):c.1290G>A (p.Ala430=) rs767563000 0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) rs775488556 0.00001
NM_000353.3(TAT):c.235G>A (p.Gly79Arg) rs1489707578 0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) rs758306831 0.00001
NM_000353.3(TAT):c.362A>C (p.Glu121Ala) rs765073890 0.00001
NM_000353.3(TAT):c.564G>T (p.Leu188Phe) rs781506099 0.00001
NM_000353.3(TAT):c.614T>C (p.Ile205Thr) rs201857669 0.00001
NM_000353.3(TAT):c.61C>A (p.His21Asn) rs1378439044 0.00001
NM_000353.3(TAT):c.707-3C>T rs886052273 0.00001
NM_000353.3(TAT):c.710C>T (p.Ala237Val) rs895881765 0.00001
NM_000353.3(TAT):c.716G>A (p.Arg239Gln) rs1597053922 0.00001
NM_000353.3(TAT):c.932A>G (p.Lys311Arg) rs2044193411 0.00001
NM_000360.4(TH):c.1038G>C (p.Gln346His) rs770006796 0.00001
NM_000360.4(TH):c.1076C>T (p.Ser359Leu) rs765379626 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1151A>G (p.Glu384Gly) rs540601354 0.00001
NM_000360.4(TH):c.1156A>G (p.Lys386Glu) rs1846071121 0.00001
NM_000360.4(TH):c.1200+5G>C rs774895306 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543 0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His) rs776457245 0.00001
NM_000360.4(TH):c.1393G>A (p.Ala465Thr) rs1846021958 0.00001
NM_000360.4(TH):c.1394C>T (p.Ala465Val) rs1846021859 0.00001
NM_000360.4(TH):c.1426C>T (p.Arg476Trp) rs201616746 0.00001
NM_000360.4(TH):c.1427G>A (p.Arg476Gln) rs774575772 0.00001
NM_000360.4(TH):c.1429C>T (p.Arg477Cys) rs78779683 0.00001
NM_000360.4(TH):c.1430G>A (p.Arg477His) rs78426052 0.00001
NM_000360.4(TH):c.1490G>A (p.Gly497Asp) rs753632777 0.00001
NM_000360.4(TH):c.155C>T (p.Ala52Val) rs1338337952 0.00001
NM_000360.4(TH):c.185C>T (p.Ser62Leu) rs574633942 0.00001
NM_000360.4(TH):c.193G>A (p.Gly65Arg) rs780478399 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.244C>G (p.Leu82Val) rs1221965870 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.331C>T (p.His111Tyr) rs911394543 0.00001
NM_000360.4(TH):c.340G>A (p.Glu114Lys) rs759435668 0.00001
NM_000360.4(TH):c.38G>C (p.Gly13Ala) rs1225376055 0.00001
NM_000360.4(TH):c.392T>C (p.Phe131Ser) rs958536401 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.427G>A (p.Ala143Thr) rs201911992 0.00001
NM_000360.4(TH):c.434T>A (p.Leu145His) rs758527628 0.00001
NM_000360.4(TH):c.43C>T (p.Arg15Cys) rs573547573 0.00001
NM_000360.4(TH):c.445C>T (p.Arg149Cys) rs779228923 0.00001
NM_000360.4(TH):c.457G>A (p.Glu153Lys) rs754247629 0.00001
NM_000360.4(TH):c.458A>G (p.Glu153Gly) rs766666741 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.517C>A (p.Leu173Met) rs1468608879 0.00001
NM_000360.4(TH):c.541A>T (p.Thr181Ser) rs774561953 0.00001
NM_000360.4(TH):c.562G>C (p.Asp188His) rs757849221 0.00001
NM_000360.4(TH):c.565T>G (p.Leu189Val) rs751996815 0.00001
NM_000360.4(TH):c.574C>T (p.Pro192Ser) rs753359396 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.576+3G>A rs761872336 0.00001
NM_000360.4(TH):c.584C>T (p.Ser195Leu) rs372409517 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.676G>A (p.Ala226Thr) rs549188961 0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.739G>C (p.Ala247Pro) rs373283527 0.00001
NM_000360.4(TH):c.749A>T (p.Glu250Val) rs878855309 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.773T>C (p.Leu258Pro) rs1846111747 0.00001
NM_000360.4(TH):c.823G>A (p.Val275Ile) rs770941754 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000360.4(TH):c.91-853C>T rs756331878 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NM_002150.3(HPD):c.1106A>G (p.Lys369Arg) rs777094600 0.00001
NM_002150.3(HPD):c.1159A>G (p.Asn387Asp) rs754985728 0.00001
NM_002150.3(HPD):c.247G>A (p.Gly83Ser) rs766105515 0.00001
NM_002150.3(HPD):c.274G>A (p.Gly92Arg) rs771382964 0.00001
NM_002150.3(HPD):c.574G>A (p.Glu192Lys) rs1877675977 0.00001
NM_002150.3(HPD):c.580G>T (p.Val194Leu) rs570445297 0.00001
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_002150.3(HPD):c.954+5G>A rs1252680307 0.00001
NC_000011.9:g.(?_1278740)_(2906719_?)dup
NC_000011.9:g.(?_612625)_(2193840_?)dup
NC_000012.11:g.(?_122281596)_(122281758_?)del
NC_000012.12:g.(?_121839708)_(121840068_?)del
NC_000015.9:g.(?_80403807)_(81274523_?)dup
NM_000137.2(FAH):c.-159C>G rs2041062775
NM_000137.2(FAH):c.-63C>A rs532122242
NM_000137.3(FAH):c.*317G>A rs886051499
NM_000137.4(FAH):c.*1G>A rs2041369631
NM_000137.4(FAH):c.1001C>T (p.Ser334Phe)
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu) rs143326948
NM_000137.4(FAH):c.1062G>A (p.Pro354=) rs767329352
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
NM_000137.4(FAH):c.1152G>T (p.Leu384=) rs886051497
NM_000137.4(FAH):c.1156G>C (p.Asp386His) rs1555442402
NM_000137.4(FAH):c.1181G>A (p.Gly394Glu)
NM_000137.4(FAH):c.1196A>C (p.Asp399Ala) rs2041368892
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His) rs1567123622
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
NM_000137.4(FAH):c.147C>G (p.Leu49=) rs886051496
NM_000137.4(FAH):c.167C>T (p.Ser56Phe) rs770312290
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.221_238del (p.Gly74_Lys79del)
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
NM_000137.4(FAH):c.23A>C (p.Glu8Ala) rs2041065243
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.266del (p.Leu89fs)
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
NM_000137.4(FAH):c.272T>G (p.Val91Gly) rs1344024365
NM_000137.4(FAH):c.295G>A (p.Asp99Asn) rs1325951062
NM_000137.4(FAH):c.298_300del (p.Thr100del) rs1555440545
NM_000137.4(FAH):c.307C>T (p.Arg103Trp)
NM_000137.4(FAH):c.314+4A>G rs748750943
NM_000137.4(FAH):c.348C>A (p.His116Gln)
NM_000137.4(FAH):c.365-2_399dup
NM_000137.4(FAH):c.369C>A (p.Asp123Glu)
NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
NM_000137.4(FAH):c.452A>G (p.Asn151Ser) rs377283883
NM_000137.4(FAH):c.455+3A>G rs779426726
NM_000137.4(FAH):c.455+3A>T
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.485G>A (p.Arg162His)
NM_000137.4(FAH):c.494C>G (p.Ser165Cys) rs2142097922
NM_000137.4(FAH):c.496G>C (p.Val166Leu)
NM_000137.4(FAH):c.502G>A (p.Val168Met)
NM_000137.4(FAH):c.529A>G (p.Met177Val)
NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
NM_000137.4(FAH):c.532G>C (p.Gly178Arg) rs2041210221
NM_000137.4(FAH):c.542_553+4dup rs746554047
NM_000137.4(FAH):c.553+8A>G rs1447400619
NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
NM_000137.4(FAH):c.597G>T (p.Glu199Asp)
NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
NM_000137.4(FAH):c.607-10C>G rs2041245977
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.607G>A (p.Ala203Thr) rs2041246142
NM_000137.4(FAH):c.615T>A (p.Phe205Leu) rs2041246277
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
NM_000137.4(FAH):c.645G>T (p.Pro215=) rs151221329
NM_000137.4(FAH):c.678T>G (p.Phe226Leu) rs2041247325
NM_000137.4(FAH):c.696C>A (p.Asn232Lys) rs533540262
NM_000137.4(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
NM_000137.4(FAH):c.707-7_707-5del rs779284513
NM_000137.4(FAH):c.710G>A (p.Arg237Gln) rs2041253905
NM_000137.4(FAH):c.740T>G (p.Leu247Arg)
NM_000137.4(FAH):c.775G>C (p.Val259Leu) rs2041254739
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
NM_000137.4(FAH):c.79G>C (p.Asp27His)
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
NM_000137.4(FAH):c.837+5G>A
NM_000137.4(FAH):c.837G>A (p.Gln279=)
NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
NM_000137.4(FAH):c.847C>A (p.Pro283Thr)
NM_000137.4(FAH):c.866A>G (p.His289Arg)
NM_000137.4(FAH):c.90G>C (p.Pro30=) rs202195651
NM_000137.4(FAH):c.932C>T (p.Ala311Val) rs529709868
NM_000137.4(FAH):c.940A>G (p.Ile314Val) rs2041295204
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
NM_000137.4(FAH):c.960+5G>A
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000137.4(FAH):c.977T>C (p.Met326Thr) rs2142107717
NM_000137.4(FAH):c.987G>T (p.Gln329His) rs2041317218
NM_000137.4(FAH):c.991A>G (p.Thr331Ala)
NM_000187.3(HGD):c.-163C>G rs556156265
NM_000187.3(HGD):c.-241A>G rs886057819
NM_000187.3(HGD):c.-407C>T rs886057821
NM_000187.4(HGD):c.*117G>A rs1940481443
NM_000187.4(HGD):c.1040G>A (p.Arg347Gln)
NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)
NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg) rs765219004
NM_000187.4(HGD):c.109T>G (p.Tyr37Asp)
NM_000187.4(HGD):c.1106C>A (p.Thr369Asn) rs765912447
NM_000187.4(HGD):c.1115G>T (p.Gly372Val) rs1940645751
NM_000187.4(HGD):c.1120G>C (p.Asp374His) rs981454067
NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)
NM_000187.4(HGD):c.1189-4C>T rs1940489783
NM_000187.4(HGD):c.1281G>A (p.Trp427Ter)
NM_000187.4(HGD):c.164_166del (p.Thr55del) rs1708093744
NM_000187.4(HGD):c.278A>G (p.Asn93Ser)
NM_000187.4(HGD):c.282+5C>A
NM_000187.4(HGD):c.283-18T>A
NM_000187.4(HGD):c.401A>G (p.His134Arg)
NM_000187.4(HGD):c.43T>C (p.Ser15Pro) rs2107557717
NM_000187.4(HGD):c.447T>A (p.Asn149Lys) rs2107513499
NM_000187.4(HGD):c.455G>C (p.Gly152Ala) rs1553717936
NM_000187.4(HGD):c.474G>A (p.Pro158=) rs2293734
NM_000187.4(HGD):c.48A>G (p.Ser16=) rs886057818
NM_000187.4(HGD):c.499A>G (p.Thr167Ala)
NM_000187.4(HGD):c.518T>A (p.Leu173His)
NM_000187.4(HGD):c.518T>C (p.Leu173Pro)
NM_000187.4(HGD):c.541G>A (p.Val181Ile)
NM_000187.4(HGD):c.559C>G (p.Arg187Gly) rs756255206
NM_000187.4(HGD):c.880-4A>G rs781667761
NM_000187.4(HGD):c.931G>A (p.Ala311Thr)
NM_000187.4(HGD):c.95C>A (p.Pro32His)
NM_000353.3(TAT):c.*163A>C rs2044175750
NM_000353.3(TAT):c.*170G>A rs2044175692
NM_000353.3(TAT):c.*208G>A rs886052271
NM_000353.3(TAT):c.*253G>C rs190776539
NM_000353.3(TAT):c.*403G>T rs2044173844
NM_000353.3(TAT):c.*479T>A rs1001474537
NM_000353.3(TAT):c.*660G>C rs2044172230
NM_000353.3(TAT):c.*774G>A rs886052267
NM_000353.3(TAT):c.*991T>C rs2044168812
NM_000353.3(TAT):c.1100G>A (p.Arg367His)
NM_000353.3(TAT):c.1115T>C (p.Met372Thr) rs2044188199
NM_000353.3(TAT):c.1125+4A>G
NM_000353.3(TAT):c.1139T>C (p.Met380Thr)
NM_000353.3(TAT):c.1224G>A (p.Thr408=) rs756743947
NM_000353.3(TAT):c.1363T>C (p.Ter455Gln) rs1018491678
NM_000353.3(TAT):c.1364A>T (p.Ter455Leu)
NM_000353.3(TAT):c.193G>A (p.Val65Met)
NM_000353.3(TAT):c.205C>T (p.Pro69Ser)
NM_000353.3(TAT):c.301C>G (p.Leu101Val)
NM_000353.3(TAT):c.31A>G (p.Lys11Glu)
NM_000353.3(TAT):c.464T>C (p.Leu155Ser) rs1808464727
NM_000353.3(TAT):c.558C>T (p.Tyr186=) rs886052274
NM_000353.3(TAT):c.560A>G (p.Asn187Ser)
NM_000353.3(TAT):c.618T>G (p.Asp206Glu) rs772304832
NM_000353.3(TAT):c.623A>T (p.Lys208Met) rs2044208144
NM_000353.3(TAT):c.73G>A (p.Gly25Ser)
NM_000353.3(TAT):c.769G>A (p.Asp257Asn)
NM_000353.3(TAT):c.805G>A (p.Asp269Asn)
NM_000353.3(TAT):c.863_874del (p.Arg288_Trp291del) rs1567590737
NM_000353.3(TAT):c.943C>T (p.Arg315Cys)
NM_000353.3(TAT):c.944G>A (p.Arg315His)
NM_000353.3(TAT):c.974G>T (p.Gly325Val)
NM_000353.3(TAT):c.997C>A (p.Arg333Ser) rs528193761
NM_000353.3(TAT):c.997C>T (p.Arg333Cys)
NM_000360.4(TH):c.*102C>A rs1846011369
NM_000360.4(TH):c.*109G>A rs886048113
NM_000360.4(TH):c.*135C>A rs1347143870
NM_000360.4(TH):c.*52C>T rs570989291
NM_000360.4(TH):c.*9C>A rs762091461
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1025G>T (p.Arg342Leu) rs768713710
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1047+3A>G rs1564917483
NM_000360.4(TH):c.1047G>A (p.Gln349=)
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1072G>A (p.Ala358Thr)
NM_000360.4(TH):c.1073C>G (p.Ala358Gly) rs1564917127
NM_000360.4(TH):c.107G>T (p.Gly36Val)
NM_000360.4(TH):c.1086A>C (p.Glu362Asp) rs1846080018
NM_000360.4(TH):c.109C>T (p.Arg37Cys)
NM_000360.4(TH):c.1104+3G>A
NM_000360.4(TH):c.1104+4G>A
NM_000360.4(TH):c.1104+4G>T rs747560095
NM_000360.4(TH):c.1104+6T>C
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.1121T>C (p.Val374Ala) rs1846072496
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) rs745551241
NM_000360.4(TH):c.1143G>T (p.Gln381His)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.115C>G (p.Gln39Glu) rs886048115
NM_000360.4(TH):c.1162T>C (p.Tyr388His) rs1846070989
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1171G>A (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1171G>C (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1186T>C (p.Tyr396His)
NM_000360.4(TH):c.11C>T (p.Pro4Leu)
NM_000360.4(TH):c.1200+5G>A
NM_000360.4(TH):c.120C>A (p.Ser40Arg) rs766048900
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1219C>G (p.Pro407Ala)
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) rs367874223
NM_000360.4(TH):c.1236C>A (p.Phe412Leu)
NM_000360.4(TH):c.1240C>T (p.Pro414Ser)
NM_000360.4(TH):c.1262C>T (p.Pro421Leu) rs752022049
NM_000360.4(TH):c.1271A>C (p.Asp424Ala) rs1590165136
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.1288G>A (p.Val430Ile) rs2133688950
NM_000360.4(TH):c.1296C>A (p.Phe432Leu) rs760210103
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.1318G>A (p.Ala440Thr)
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) rs374465917
NM_000360.4(TH):c.1324G>C (p.Asp442His) rs775587609
NM_000360.4(TH):c.1330C>T (p.Leu444Phe)
NM_000360.4(TH):c.1333A>G (p.Arg445Gly) rs1846054204
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.133G>A (p.Ala45Thr) rs1846204853
NM_000360.4(TH):c.1348C>A (p.Arg450Ser)
NM_000360.4(TH):c.1367C>G (p.Ser456Cys)
NM_000360.4(TH):c.1369G>A (p.Val457Met)
NM_000360.4(TH):c.1378G>A (p.Asp460Asn)
NM_000360.4(TH):c.1378G>T (p.Asp460Tyr)
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) rs767635052
NM_000360.4(TH):c.1390C>G (p.Leu464Val)
NM_000360.4(TH):c.1401C>A (p.Asp467Glu) rs3842724
NM_000360.4(TH):c.1440G>T (p.Glu480Asp) rs1405705464
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.1442G>T (p.Gly481Val) rs564949885
NM_000360.4(TH):c.1445T>C (p.Val482Ala)
NM_000360.4(TH):c.1450G>C (p.Asp484His)
NM_000360.4(TH):c.1453G>A (p.Glu485Lys)
NM_000360.4(TH):c.1459G>C (p.Asp487His) rs2133686524
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.1460A>G (p.Asp487Gly)
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
NM_000360.4(TH):c.146G>A (p.Arg49Gln)
NM_000360.4(TH):c.1490G>T (p.Gly497Val)
NM_000360.4(TH):c.151G>A (p.Ala51Thr)
NM_000360.4(TH):c.152C>T (p.Ala51Val)
NM_000360.4(TH):c.16G>T (p.Ala6Ser)
NM_000360.4(TH):c.200C>T (p.Pro67Leu) rs752445432
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.205G>A (p.Glu69Lys)
NM_000360.4(TH):c.217T>C (p.Phe73Leu) rs577028504
NM_000360.4(TH):c.222G>C (p.Glu74Asp)
NM_000360.4(TH):c.225G>T (p.Glu75Asp)
NM_000360.4(TH):c.245T>G (p.Leu82Arg) rs990443240
NM_000360.4(TH):c.259T>C (p.Ser87Pro) rs1846199834
NM_000360.4(TH):c.25C>T (p.Pro9Ser)
NM_000360.4(TH):c.281C>T (p.Ser94Leu)
NM_000360.4(TH):c.284C>A (p.Ala95Glu) rs769126179
NM_000360.4(TH):c.284C>G (p.Ala95Gly) rs769126179
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.286_312+18dup rs1388275002
NM_000360.4(TH):c.293G>A (p.Arg98Gln)
NM_000360.4(TH):c.293G>C (p.Arg98Pro) rs375214998
NM_000360.4(TH):c.298G>A (p.Val100Met) rs1353856728
NM_000360.4(TH):c.298G>C (p.Val100Leu)
NM_000360.4(TH):c.302A>G (p.Lys101Arg) rs1284709971
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
NM_000360.4(TH):c.312+6C>T rs753670938
NM_000360.4(TH):c.314C>T (p.Thr105Met)
NM_000360.4(TH):c.31G>A (p.Ala11Thr)
NM_000360.4(TH):c.32C>A (p.Ala11Asp) rs933425557
NM_000360.4(TH):c.32C>G (p.Ala11Gly) rs933425557
NM_000360.4(TH):c.337C>G (p.Leu113Val) rs1846169186
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.347G>A (p.Arg116Gln)
NM_000360.4(TH):c.347G>C (p.Arg116Pro)
NM_000360.4(TH):c.352G>T (p.Ala118Ser)
NM_000360.4(TH):c.359G>A (p.Arg120Lys)
NM_000360.4(TH):c.385G>A (p.Glu129Lys) rs1178215140
NM_000360.4(TH):c.394G>C (p.Val132Leu) rs751702426
NM_000360.4(TH):c.397C>T (p.Arg133Cys)
NM_000360.4(TH):c.398G>T (p.Arg133Leu) rs376881948
NM_000360.4(TH):c.401_412del (p.Leu134_Arg137del) rs1846165944
NM_000360.4(TH):c.403G>A (p.Glu135Lys)
NM_000360.4(TH):c.409C>T (p.Arg137Cys)
NM_000360.4(TH):c.413G>A (p.Arg138Gln)
NM_000360.4(TH):c.418G>A (p.Asp140Asn)
NM_000360.4(TH):c.424G>T (p.Ala142Ser) rs770167236
NM_000360.4(TH):c.42C>G (p.Phe14Leu)
NM_000360.4(TH):c.443T>C (p.Val148Ala) rs942789428
NM_000360.4(TH):c.446G>A (p.Arg149His)
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
NM_000360.4(TH):c.463G>A (p.Val155Met)
NM_000360.4(TH):c.467G>A (p.Arg156His)
NM_000360.4(TH):c.46A>G (p.Arg16Gly)
NM_000360.4(TH):c.473C>T (p.Pro158Leu)
NM_000360.4(TH):c.475G>A (p.Ala159Thr)
NM_000360.4(TH):c.476C>T (p.Ala159Val)
NM_000360.4(TH):c.479G>A (p.Gly160Glu) rs777823354
NM_000360.4(TH):c.487+118G>A
NM_000360.4(TH):c.488-17C>G rs918432885
NM_000360.4(TH):c.503G>A (p.Arg168Lys)
NM_000360.4(TH):c.50C>A (p.Ala17Asp) rs2133704171
NM_000360.4(TH):c.549C>G (p.Phe183Leu)
NM_000360.4(TH):c.550G>C (p.Asp184His)
NM_000360.4(TH):c.575C>T (p.Pro192Leu) rs760346235
NM_000360.4(TH):c.576+6T>C
NM_000360.4(TH):c.577-22_577-5del
NM_000360.4(TH):c.577-3C>T
NM_000360.4(TH):c.577G>A (p.Gly193Ser) rs2133695838
NM_000360.4(TH):c.58G>A (p.Glu20Lys) rs2133704152
NM_000360.4(TH):c.599G>C (p.Arg200Pro) rs201224335
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) rs1554923325
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.628G>T (p.Ala210Ser) rs1260455415
NM_000360.4(TH):c.633C>A (p.Phe211Leu)
NM_000360.4(TH):c.635A>G (p.Gln212Arg) rs1002471580
NM_000360.4(TH):c.645C>A (p.His215Gln) rs768037080
NM_000360.4(TH):c.647G>A (p.Gly216Asp)
NM_000360.4(TH):c.652C>T (p.Pro218Ser)
NM_000360.4(TH):c.661C>T (p.Arg221Cys)
NM_000360.4(TH):c.662G>T (p.Arg221Leu) rs150559011
NM_000360.4(TH):c.680A>C (p.Glu227Ala) rs929509309
NM_000360.4(TH):c.685A>C (p.Ile229Leu) rs778613708
NM_000360.4(TH):c.702G>T (p.Glu234Asp)
NM_000360.4(TH):c.713C>G (p.Thr238Arg)
NM_000360.4(TH):c.713C>T (p.Thr238Met) rs757607038
NM_000360.4(TH):c.722G>A (p.Gly241Asp)
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.727T>C (p.Tyr243His) rs1196330512
NM_000360.4(TH):c.730G>C (p.Ala244Pro) rs759968927
NM_000360.4(TH):c.730G>T (p.Ala244Ser) rs759968927
NM_000360.4(TH):c.739G>A (p.Ala247Thr)
NM_000360.4(TH):c.755T>C (p.Leu252Pro) rs978552119
NM_000360.4(TH):c.765T>G (p.Phe255Leu)
NM_000360.4(TH):c.767C>T (p.Ala256Val)
NM_000360.4(TH):c.778C>G (p.Arg260Gly) rs376462928
NM_000360.4(TH):c.787G>A (p.Gly263Ser)
NM_000360.4(TH):c.799G>C (p.Asp267His) rs1057524283
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.821A>G (p.Asp274Gly)
NM_000360.4(TH):c.824T>G (p.Val275Gly) rs2133693418
NM_000360.4(TH):c.829C>A (p.Arg277Ser) rs2133693392
NM_000360.4(TH):c.82G>C (p.Ala28Pro)
NM_000360.4(TH):c.841+3G>A rs528887823
NM_000360.4(TH):c.841+5G>A rs1846109018
NM_000360.4(TH):c.842-10C>A rs1397228949
NM_000360.4(TH):c.842-3C>A
NM_000360.4(TH):c.862C>T (p.Arg288Trp)
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+1G>T rs1554924329
NM_000360.4(TH):c.90+2_90+3dup rs1554924328
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.901G>T (p.Ala301Ser)
NM_000360.4(TH):c.91-20_91-10del rs2133700266
NM_000360.4(TH):c.91-819G>A rs1330998143
NM_000360.4(TH):c.91-819G>T rs1330998143
NM_000360.4(TH):c.91-838C>T rs1195830888
NM_000360.4(TH):c.91-847C>T
NM_000360.4(TH):c.91-851G>A rs1186732715
NM_000360.4(TH):c.91-856C>A
NM_000360.4(TH):c.91-871C>T rs1313952475
NM_000360.4(TH):c.91-875G>A
NM_000360.4(TH):c.91-886C>T
NM_000360.4(TH):c.91-893C>T
NM_000360.4(TH):c.91-896_91-885del rs1554924102
NM_000360.4(TH):c.91-900G>A rs1554924111
NM_000360.4(TH):c.91-901A>C rs1554924114
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.920T>C (p.Val307Ala)
NM_000360.4(TH):c.950C>A (p.Ala317Glu)
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.970C>T (p.Pro324Ser)
NM_000360.4(TH):c.977+8C>T rs12419447
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000360.4(TH):c.97C>T (p.Arg33Trp)
NM_000372.5(TYR):c.1202T>C (p.Leu401Pro) rs2135324201
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.157G>C (p.Gly53Arg) rs1591133731
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.819G>A (p.Gln273=)
NM_002150.3(HPD):c.*190G>T rs942325148
NM_002150.3(HPD):c.*69C>T rs1592913492
NM_002150.3(HPD):c.*82T>C rs879205776
NM_002150.3(HPD):c.1016C>G (p.Pro339Arg) rs1877352949
NM_002150.3(HPD):c.104T>C (p.Phe35Ser) rs1592923946
NM_002150.3(HPD):c.1061A>G (p.His354Arg) rs1877351328
NM_002150.3(HPD):c.106T>C (p.Tyr36His)
NM_002150.3(HPD):c.1092C>A (p.Phe364Leu)
NM_002150.3(HPD):c.1097C>A (p.Ser366Ter) rs369037617
NM_002150.3(HPD):c.109T>C (p.Cys37Arg) rs1246785384
NM_002150.3(HPD):c.1120G>A (p.Glu374Lys) rs1020099831
NM_002150.3(HPD):c.1121A>T (p.Glu374Val) rs1877344435
NM_002150.3(HPD):c.1133G>C (p.Arg378Pro) rs560715209
NM_002150.3(HPD):c.1151del (p.Met384fs) rs1555339247
NM_002150.3(HPD):c.1165G>C (p.Val389Leu) rs1404803313
NM_002150.3(HPD):c.211C>G (p.Leu71Val) rs886049037
NM_002150.3(HPD):c.295G>C (p.Glu99Gln) rs199638048
NM_002150.3(HPD):c.325-2A>G
NM_002150.3(HPD):c.356_358del (p.Arg119_Glu120delinsGln) rs1877932887
NM_002150.3(HPD):c.413C>T (p.Thr138Met)
NM_002150.3(HPD):c.415-5C>G
NM_002150.3(HPD):c.415T>A (p.Tyr139Asn) rs1877705055
NM_002150.3(HPD):c.44G>C (p.Arg15Pro)
NM_002150.3(HPD):c.460G>C (p.Gly154Arg)
NM_002150.3(HPD):c.485C>T (p.Ala162Val) rs1566570874
NM_002150.3(HPD):c.518+3G>A rs1877698848
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095
NM_002150.3(HPD):c.561C>G (p.Asn187Lys) rs1438994844
NM_002150.3(HPD):c.688G>A (p.Ala230Thr) rs2137616170
NM_002150.3(HPD):c.802G>A (p.Ala268Thr)
NM_002150.3(HPD):c.835C>G (p.Arg279Gly)
NM_002150.3(HPD):c.85G>A (p.Ala29Thr)
NM_002150.3(HPD):c.898C>T (p.Arg300Trp) rs149281612
NM_002150.3(HPD):c.899G>A (p.Arg300Gln)
NM_002150.3(HPD):c.92A>G (p.Gln31Arg) rs1878057534
NM_002150.3(HPD):c.93+3A>G
NM_144969.3(ZDHHC15):c.448A>G (p.Met150Val)
NM_199292.2(TH):c.-69T>A rs1554924394

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