ClinVar Miner

List of variants in gene TTLL5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 973
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C rs2359870 0.99609
NM_015072.5(TTLL5):c.1187-56G>T rs2288141 0.66272
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val) rs2303345 0.48575
NM_015072.5(TTLL5):c.3800T>C (p.Phe1267Ser) rs1133834 0.30514
NM_015072.5(TTLL5):c.3498G>A (p.Leu1166=) rs3742764 0.13480
NM_015072.5(TTLL5):c.2016-74G>A rs17783198 0.10565
NM_015072.5(TTLL5):c.2136+6G>C rs45480992 0.10133
NM_015072.5(TTLL5):c.265-63T>C rs1477464 0.09139
NM_015072.5(TTLL5):c.934+45A>G rs17783174 0.04401
NM_015072.5(TTLL5):c.2388-12T>C rs72725608 0.02584
NM_015072.5(TTLL5):c.502+69T>G rs77074815 0.02384
NM_015072.5(TTLL5):c.1396-22T>C rs77593112 0.02130
NM_015072.5(TTLL5):c.2516-61A>G rs45622233 0.01757
NM_015072.5(TTLL5):c.75-3T>C rs117173802 0.01615
NM_015072.5(TTLL5):c.2232C>T (p.Arg744=) rs2288143 0.01345
NM_015072.5(TTLL5):c.181+23A>G rs147225754 0.01247
NM_015072.5(TTLL5):c.2872A>G (p.Thr958Ala) rs148677697 0.01233
NM_015072.5(TTLL5):c.3522+74G>A rs9919890 0.00987
NM_015072.5(TTLL5):c.265-47G>T rs147917101 0.00973
NM_015072.5(TTLL5):c.181+4C>T rs117639142 0.00939
NM_015072.5(TTLL5):c.1186+14T>G rs114107464 0.00898
NM_015072.5(TTLL5):c.2629G>A (p.Ala877Thr) rs112181538 0.00715
NM_015072.5(TTLL5):c.1773C>T (p.Val591=) rs61741261 0.00711
NM_015072.5(TTLL5):c.3544C>T (p.Leu1182=) rs143302131 0.00659
NM_015072.5(TTLL5):c.1395+11G>T rs79846725 0.00603
NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe) rs146036604 0.00396
NM_015072.5(TTLL5):c.1963C>T (p.Leu655=) rs142427449 0.00320
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln) rs142169707 0.00269
NM_015072.5(TTLL5):c.1774G>A (p.Ala592Thr) rs11848004 0.00238
NM_015072.5(TTLL5):c.1326C>T (p.Leu442=) rs141322942 0.00219
NM_015072.5(TTLL5):c.354A>G (p.Lys118=) rs142072074 0.00185
NM_015072.5(TTLL5):c.2603-3T>C rs185326652 0.00175
NM_015072.5(TTLL5):c.576G>T (p.Leu192=) rs556212778 0.00164
NM_015072.5(TTLL5):c.670G>A (p.Val224Met) rs17849666 0.00105
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln) rs142465256 0.00090
NM_015072.5(TTLL5):c.1709-9C>T rs373032875 0.00083
NM_015072.5(TTLL5):c.2137-12T>C rs186428372 0.00081
NM_015072.5(TTLL5):c.934+10G>A rs192536539 0.00079
NM_015072.5(TTLL5):c.1576T>C (p.Leu526=) rs2288142 0.00074
NM_015072.5(TTLL5):c.2965C>T (p.Arg989Cys) rs151205932 0.00066
NM_015072.5(TTLL5):c.1422G>A (p.Glu474=) rs145268057 0.00065
NM_015072.5(TTLL5):c.1897A>G (p.Asn633Asp) rs141429300 0.00060
NM_015072.5(TTLL5):c.740+6A>G rs185044527 0.00060
NM_015072.5(TTLL5):c.3803T>C (p.Val1268Ala) rs137888249 0.00058
NM_015072.5(TTLL5):c.933C>T (p.Thr311=) rs77742126 0.00057
NM_015072.5(TTLL5):c.490G>A (p.Ala164Thr) rs143151165 0.00053
NM_015072.5(TTLL5):c.141C>T (p.Asp47=) rs540867894 0.00048
NM_015072.5(TTLL5):c.3752C>T (p.Ala1251Val) rs138045400 0.00047
NM_015072.5(TTLL5):c.40T>C (p.Ser14Pro) rs201704357 0.00046
NM_015072.5(TTLL5):c.609G>C (p.Glu203Asp) rs17856074 0.00046
NM_015072.5(TTLL5):c.824A>G (p.Lys275Arg) rs145430209 0.00046
NM_015072.5(TTLL5):c.3461A>C (p.Gln1154Pro) rs573319891 0.00043
NM_015072.5(TTLL5):c.1969C>T (p.Pro657Ser) rs150120928 0.00039
NM_015072.5(TTLL5):c.3425C>T (p.Thr1142Ile) rs143882862 0.00039
NM_015072.5(TTLL5):c.3395G>A (p.Gly1132Glu) rs146051440 0.00036
NM_015072.5(TTLL5):c.2136+16C>G rs377039435 0.00033
NM_015072.5(TTLL5):c.2950A>T (p.Ser984Cys) rs141204322 0.00031
NM_015072.5(TTLL5):c.1186+9T>C rs1406748679 0.00028
NM_015072.5(TTLL5):c.3419A>G (p.His1140Arg) rs140038179 0.00028
NM_015072.5(TTLL5):c.2536G>A (p.Glu846Lys) rs147186140 0.00027
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) rs199882533 0.00024
NM_015072.5(TTLL5):c.181+18C>T rs546521756 0.00024
NM_015072.5(TTLL5):c.2262C>T (p.Asp754=) rs767367069 0.00022
NM_015072.5(TTLL5):c.521G>A (p.Arg174Gln) rs141614130 0.00022
NM_015072.5(TTLL5):c.1912C>T (p.Arg638Cys) rs61741463 0.00021
NM_015072.5(TTLL5):c.2930A>G (p.Gln977Arg) rs576592642 0.00021
NM_015072.5(TTLL5):c.1187-7C>G rs772006292 0.00020
NM_015072.5(TTLL5):c.1187-8C>T rs748140679 0.00020
NM_015072.5(TTLL5):c.3327-16T>C rs557646685 0.00019
NM_015072.5(TTLL5):c.501T>C (p.Cys167=) rs367911993 0.00019
NM_015072.5(TTLL5):c.2970C>G (p.Pro990=) rs140291071 0.00017
NM_015072.5(TTLL5):c.1255A>G (p.Arg419Gly) rs143853946 0.00016
NM_015072.5(TTLL5):c.1310C>T (p.Ala437Val) rs112023579 0.00016
NM_015072.5(TTLL5):c.274A>G (p.Ser92Gly) rs149084771 0.00016
NM_015072.5(TTLL5):c.3642A>T (p.Lys1214Asn) rs146149200 0.00016
NM_015072.5(TTLL5):c.624C>A (p.Ser208=) rs192932593 0.00016
NM_015072.5(TTLL5):c.1159A>G (p.Met387Val) rs201783571 0.00014
NM_015072.5(TTLL5):c.1903A>G (p.Met635Val) rs145086453 0.00014
NM_015072.5(TTLL5):c.1662T>G (p.Arg554=) rs1045127706 0.00013
NM_015072.5(TTLL5):c.2357A>T (p.Glu786Val) rs372279209 0.00013
NM_015072.5(TTLL5):c.564G>A (p.Arg188=) rs139084674 0.00013
NM_015072.5(TTLL5):c.1920G>A (p.Trp640Ter) rs367693933 0.00012
NM_015072.5(TTLL5):c.2052C>T (p.Leu684=) rs374872936 0.00012
NM_015072.5(TTLL5):c.2847C>T (p.Pro949=) rs375420838 0.00012
NM_015072.5(TTLL5):c.92T>C (p.Met31Thr) rs139124485 0.00012
NM_015072.5(TTLL5):c.1409G>A (p.Arg470Gln) rs368557430 0.00011
NM_015072.5(TTLL5):c.2150G>A (p.Arg717His) rs201405297 0.00011
NM_015072.5(TTLL5):c.2805A>G (p.Leu935=) rs146549418 0.00011
NM_015072.5(TTLL5):c.377A>C (p.Tyr126Ser) rs138271588 0.00011
NM_015072.5(TTLL5):c.568G>A (p.Val190Ile) rs374783896 0.00011
NM_015072.5(TTLL5):c.1059C>T (p.Asp353=) rs373070614 0.00010
NM_015072.5(TTLL5):c.1781A>G (p.Asp594Gly) rs148938066 0.00010
NM_015072.5(TTLL5):c.2387+11T>A rs747215169 0.00010
NM_015072.5(TTLL5):c.3264G>A (p.Pro1088=) rs376141983 0.00010
NM_015072.5(TTLL5):c.3666C>T (p.Cys1222=) rs141359185 0.00010
NM_015072.5(TTLL5):c.412A>G (p.Ile138Val) rs780232533 0.00010
NM_015072.5(TTLL5):c.492G>A (p.Ala164=) rs374875191 0.00010
NM_015072.5(TTLL5):c.1513A>G (p.Met505Val) rs781316021 0.00009
NM_015072.5(TTLL5):c.1852T>C (p.Tyr618His) rs146649407 0.00009
NM_015072.5(TTLL5):c.233G>A (p.Arg78His) rs750217504 0.00009
NM_015072.5(TTLL5):c.3437A>G (p.Tyr1146Cys) rs146889412 0.00009
NM_015072.5(TTLL5):c.3447A>G (p.Gln1149=) rs140548477 0.00009
NM_015072.5(TTLL5):c.3756A>G (p.Glu1252=) rs146101884 0.00009
NM_015072.5(TTLL5):c.3785T>C (p.Leu1262Pro) rs143635737 0.00009
NM_015072.5(TTLL5):c.513G>A (p.Ser171=) rs375994206 0.00009
NM_015072.5(TTLL5):c.51G>C (p.Glu17Asp) rs369916219 0.00009
NM_015072.5(TTLL5):c.879A>G (p.Lys293=) rs202058075 0.00009
NM_015072.5(TTLL5):c.1289G>A (p.Arg430His) rs757963244 0.00008
NM_015072.5(TTLL5):c.172G>T (p.Val58Leu) rs763162558 0.00008
NM_015072.5(TTLL5):c.2089G>A (p.Gly697Ser) rs367910225 0.00008
NM_015072.5(TTLL5):c.2137-4A>G rs763286618 0.00008
NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter) rs769845921 0.00008
NM_015072.5(TTLL5):c.3823+10C>T rs372087412 0.00008
NM_015072.5(TTLL5):c.526C>T (p.Pro176Ser) rs146224123 0.00008
NM_015072.5(TTLL5):c.1433G>A (p.Arg478Gln) rs1029865156 0.00007
NM_015072.5(TTLL5):c.2966G>A (p.Arg989His) rs375900619 0.00007
NM_015072.5(TTLL5):c.3172-13G>A rs370039944 0.00007
NM_015072.5(TTLL5):c.3331C>T (p.Leu1111=) rs758786838 0.00007
NM_015072.5(TTLL5):c.3691C>T (p.Pro1231Ser) rs11844617 0.00007
NM_015072.5(TTLL5):c.1281+9A>G rs374428308 0.00006
NM_015072.5(TTLL5):c.1497C>T (p.Leu499=) rs778083827 0.00006
NM_015072.5(TTLL5):c.1626C>T (p.Tyr542=) rs377113362 0.00006
NM_015072.5(TTLL5):c.2199A>G (p.Val733=) rs908319583 0.00006
NM_015072.5(TTLL5):c.2815G>A (p.Val939Ile) rs200806918 0.00006
NM_015072.5(TTLL5):c.3699C>T (p.His1233=) rs185999044 0.00006
NM_015072.5(TTLL5):c.431C>T (p.Thr144Ile) rs200596181 0.00006
NM_015072.5(TTLL5):c.486G>A (p.Glu162=) rs374680809 0.00006
NM_015072.5(TTLL5):c.491C>T (p.Ala164Val) rs370083774 0.00006
NM_015072.5(TTLL5):c.655+20T>G rs762213780 0.00006
NM_015072.5(TTLL5):c.74+6T>G rs751971515 0.00006
NM_015072.5(TTLL5):c.781C>T (p.Arg261Trp) rs563243448 0.00006
NM_015072.5(TTLL5):c.850G>A (p.Asp284Asn) rs143218190 0.00006
NM_015072.5(TTLL5):c.983C>T (p.Ala328Val) rs138264261 0.00006
NM_015072.5(TTLL5):c.986A>G (p.Glu329Gly) rs774802227 0.00006
NM_015072.5(TTLL5):c.1214G>A (p.Arg405Gln) rs370288328 0.00005
NM_015072.5(TTLL5):c.2016-4A>G rs760629839 0.00005
NM_015072.5(TTLL5):c.2057A>G (p.His686Arg) rs758944388 0.00005
NM_015072.5(TTLL5):c.208G>T (p.Val70Leu) rs761068583 0.00005
NM_015072.5(TTLL5):c.2230C>T (p.Arg744Cys) rs201309706 0.00005
NM_015072.5(TTLL5):c.2439T>G (p.Ser813=) rs374776244 0.00005
NM_015072.5(TTLL5):c.25C>G (p.Leu9Val) rs747924529 0.00005
NM_015072.5(TTLL5):c.2987-11C>T rs377468714 0.00005
NM_015072.5(TTLL5):c.3104G>A (p.Arg1035Gln) rs767213119 0.00005
NM_015072.5(TTLL5):c.3126G>A (p.Ala1042=) rs528586611 0.00005
NM_015072.5(TTLL5):c.3376G>A (p.Val1126Met) rs542956518 0.00005
NM_015072.5(TTLL5):c.389G>A (p.Arg130Gln) rs757381290 0.00005
NM_015072.5(TTLL5):c.426G>A (p.Gln142=) rs777618669 0.00005
NM_015072.5(TTLL5):c.468C>G (p.Thr156=) rs149433867 0.00005
NM_015072.5(TTLL5):c.935-15A>C rs1043689423 0.00005
NM_015072.5(TTLL5):c.1124+14A>G rs759219958 0.00004
NM_015072.5(TTLL5):c.1259G>A (p.Arg420Gln) rs770816273 0.00004
NM_015072.5(TTLL5):c.1269C>A (p.Phe423Leu) rs189135452 0.00004
NM_015072.5(TTLL5):c.127G>T (p.Val43Leu) rs144141238 0.00004
NM_015072.5(TTLL5):c.129A>G (p.Val43=) rs1004624962 0.00004
NM_015072.5(TTLL5):c.1534C>T (p.Arg512Cys) rs746661330 0.00004
NM_015072.5(TTLL5):c.1621C>G (p.Leu541Val) rs1378778170 0.00004
NM_015072.5(TTLL5):c.1708+7G>A rs374854761 0.00004
NM_015072.5(TTLL5):c.2061T>A (p.Val687=) rs1009745600 0.00004
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs) rs781415819 0.00004
NM_015072.5(TTLL5):c.2143G>C (p.Val715Leu) rs751595648 0.00004
NM_015072.5(TTLL5):c.2166A>G (p.Ala722=) rs541700043 0.00004
NM_015072.5(TTLL5):c.2210G>A (p.Arg737Gln) rs762742540 0.00004
NM_015072.5(TTLL5):c.2212C>T (p.Arg738Ter) rs377702881 0.00004
NM_015072.5(TTLL5):c.2234G>A (p.Arg745Lys) rs373164064 0.00004
NM_015072.5(TTLL5):c.232C>T (p.Arg78Cys) rs369997391 0.00004
NM_015072.5(TTLL5):c.2573C>T (p.Thr858Met) rs142328630 0.00004
NM_015072.5(TTLL5):c.2626G>C (p.Glu876Gln) rs760860657 0.00004
NM_015072.5(TTLL5):c.2987-10G>A rs777187943 0.00004
NM_015072.5(TTLL5):c.3020T>C (p.Ile1007Thr) rs754769449 0.00004
NM_015072.5(TTLL5):c.3145A>G (p.Ser1049Gly) rs147228168 0.00004
NM_015072.5(TTLL5):c.3172-16C>G rs762842146 0.00004
NM_015072.5(TTLL5):c.3263C>T (p.Pro1088Leu) rs767195442 0.00004
NM_015072.5(TTLL5):c.3375C>T (p.Asn1125=) rs377388883 0.00004
NM_015072.5(TTLL5):c.3700G>A (p.Glu1234Lys) rs772723003 0.00004
NM_015072.5(TTLL5):c.3747C>T (p.Ser1249=) rs367807893 0.00004
NM_015072.5(TTLL5):c.3753G>A (p.Ala1251=) rs142835737 0.00004
NM_015072.5(TTLL5):c.387C>T (p.Thr129=) rs373045019 0.00004
NM_015072.5(TTLL5):c.398G>A (p.Arg133Gln) rs533894435 0.00004
NM_015072.5(TTLL5):c.53A>G (p.Asp18Gly) rs776534405 0.00004
NM_015072.5(TTLL5):c.567C>T (p.Gly189=) rs369856390 0.00004
NM_015072.5(TTLL5):c.75-8C>T rs574913177 0.00004
NM_015072.5(TTLL5):c.843-16T>C rs199828180 0.00004
NM_015072.5(TTLL5):c.990A>G (p.Leu330=) rs191549100 0.00004
NM_015072.5(TTLL5):c.1065C>T (p.Leu355=) rs750525552 0.00003
NM_015072.5(TTLL5):c.1070A>T (p.Asp357Val) rs756216913 0.00003
NM_015072.5(TTLL5):c.138C>T (p.Ala46=) rs570513349 0.00003
NM_015072.5(TTLL5):c.1521T>C (p.Tyr507=) rs749599859 0.00003
NM_015072.5(TTLL5):c.1568C>T (p.Ala523Val) rs1393819034 0.00003
NM_015072.5(TTLL5):c.189T>C (p.Tyr63=) rs772480677 0.00003
NM_015072.5(TTLL5):c.2015+20A>G rs747534524 0.00003
NM_015072.5(TTLL5):c.2602+1G>A rs867401129 0.00003
NM_015072.5(TTLL5):c.2652C>G (p.Ser884=) rs758830351 0.00003
NM_015072.5(TTLL5):c.2742C>T (p.His914=) rs199750590 0.00003
NM_015072.5(TTLL5):c.296T>C (p.Met99Thr) rs142141819 0.00003
NM_015072.5(TTLL5):c.3067C>T (p.Arg1023Trp) rs559290024 0.00003
NM_015072.5(TTLL5):c.3155A>G (p.Asn1052Ser) rs138819117 0.00003
NM_015072.5(TTLL5):c.573C>T (p.Tyr191=) rs992948596 0.00003
NM_015072.5(TTLL5):c.625C>T (p.Arg209Cys) rs757525224 0.00003
NM_015072.5(TTLL5):c.936A>G (p.Ala312=) rs760113065 0.00003
NM_015072.5(TTLL5):c.1013C>T (p.Thr338Ile) rs142999332 0.00002
NM_015072.5(TTLL5):c.1060G>A (p.Val354Met) rs781509883 0.00002
NM_015072.5(TTLL5):c.1116T>C (p.Ser372=) rs546587085 0.00002
NM_015072.5(TTLL5):c.1166C>G (p.Ser389Ter) rs774889687 0.00002
NM_015072.5(TTLL5):c.1222A>G (p.Thr408Ala) rs752741850 0.00002
NM_015072.5(TTLL5):c.1282-6C>T rs774267442 0.00002
NM_015072.5(TTLL5):c.1291C>T (p.Pro431Ser) rs750993500 0.00002
NM_015072.5(TTLL5):c.1337C>T (p.Ala446Val) rs772710450 0.00002
NM_015072.5(TTLL5):c.1359G>C (p.Lys453Asn) rs756685377 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015072.5(TTLL5):c.1535G>A (p.Arg512His) rs770398766 0.00002
NM_015072.5(TTLL5):c.1552A>G (p.Met518Val) rs774032319 0.00002
NM_015072.5(TTLL5):c.1667G>A (p.Arg556Gln) rs140783328 0.00002
NM_015072.5(TTLL5):c.1669C>T (p.Arg557Trp) rs771955076 0.00002
NM_015072.5(TTLL5):c.1680A>C (p.Arg560Ser) rs759541989 0.00002
NM_015072.5(TTLL5):c.1709-18G>C rs200028462 0.00002
NM_015072.5(TTLL5):c.1718A>G (p.Gln573Arg) rs746942017 0.00002
NM_015072.5(TTLL5):c.184C>T (p.Arg62Cys) rs948170380 0.00002
NM_015072.5(TTLL5):c.1915G>A (p.Glu639Lys) rs150898821 0.00002
NM_015072.5(TTLL5):c.1998A>G (p.Gln666=) rs552134181 0.00002
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter) rs138370992 0.00002
NM_015072.5(TTLL5):c.2040C>G (p.Phe680Leu) rs758606045 0.00002
NM_015072.5(TTLL5):c.2136+7C>G rs781673837 0.00002
NM_015072.5(TTLL5):c.2178C>G (p.Leu726=) rs769802064 0.00002
NM_015072.5(TTLL5):c.2214A>G (p.Arg738=) rs1303705444 0.00002
NM_015072.5(TTLL5):c.2215T>C (p.Leu739=) rs774690827 0.00002
NM_015072.5(TTLL5):c.2231G>A (p.Arg744His) rs766807897 0.00002
NM_015072.5(TTLL5):c.2265T>G (p.Phe755Leu) rs745316288 0.00002
NM_015072.5(TTLL5):c.2388-2A>G rs752669828 0.00002
NM_015072.5(TTLL5):c.2515+8T>C rs753526114 0.00002
NM_015072.5(TTLL5):c.260A>G (p.His87Arg) rs1392147107 0.00002
NM_015072.5(TTLL5):c.2648A>G (p.Asn883Ser) rs752768188 0.00002
NM_015072.5(TTLL5):c.2712A>G (p.Thr904=) rs778299564 0.00002
NM_015072.5(TTLL5):c.3192A>G (p.Ala1064=) rs544253053 0.00002
NM_015072.5(TTLL5):c.3367G>C (p.Glu1123Gln) rs779740755 0.00002
NM_015072.5(TTLL5):c.3488G>A (p.Arg1163Gln) rs557573661 0.00002
NM_015072.5(TTLL5):c.3519C>T (p.His1173=) rs762267171 0.00002
NM_015072.5(TTLL5):c.3562T>C (p.Trp1188Arg) rs771218524 0.00002
NM_015072.5(TTLL5):c.3750C>T (p.Ser1250=) rs767719777 0.00002
NM_015072.5(TTLL5):c.3772C>T (p.Leu1258Phe) rs755399179 0.00002
NM_015072.5(TTLL5):c.458T>A (p.Leu153His) rs762781195 0.00002
NM_015072.5(TTLL5):c.512C>T (p.Ser171Leu) rs755712371 0.00002
NM_015072.5(TTLL5):c.603G>A (p.Leu201=) rs753322914 0.00002
NM_015072.5(TTLL5):c.626G>A (p.Arg209His) rs781617968 0.00002
NM_015072.5(TTLL5):c.793A>G (p.Met265Val) rs141360303 0.00002
NM_015072.5(TTLL5):c.859G>A (p.Val287Met) rs761251852 0.00002
NM_015072.5(TTLL5):c.864G>A (p.Glu288=) rs371882450 0.00002
NM_015072.5(TTLL5):c.86G>A (p.Cys29Tyr) rs1207808142 0.00002
NM_015072.5(TTLL5):c.886A>G (p.Met296Val) rs756717509 0.00002
NM_015072.5(TTLL5):c.967A>C (p.Lys323Gln) rs375373706 0.00002
NM_015072.5(TTLL5):c.1028G>A (p.Arg343His) rs759880353 0.00001
NM_015072.5(TTLL5):c.103G>A (p.Gly35Ser) rs1049723430 0.00001
NM_015072.5(TTLL5):c.1043-3T>C rs751364673 0.00001
NM_015072.5(TTLL5):c.1086A>C (p.Pro362=) rs146212436 0.00001
NM_015072.5(TTLL5):c.1099G>A (p.Val367Met) rs1361306305 0.00001
NM_015072.5(TTLL5):c.1131G>A (p.Ala377=) rs758828125 0.00001
NM_015072.5(TTLL5):c.1156A>G (p.Ser386Gly) rs745555170 0.00001
NM_015072.5(TTLL5):c.1183G>A (p.Val395Ile) rs767267264 0.00001
NM_015072.5(TTLL5):c.1197C>G (p.Cys399Trp) rs137910976 0.00001
NM_015072.5(TTLL5):c.1206T>C (p.Pro402=) rs370816365 0.00001
NM_015072.5(TTLL5):c.1235A>T (p.Tyr412Phe) rs757710361 0.00001
NM_015072.5(TTLL5):c.1271A>G (p.Gln424Arg) rs769960522 0.00001
NM_015072.5(TTLL5):c.1278T>G (p.Pro426=) rs775565673 0.00001
NM_015072.5(TTLL5):c.1295T>C (p.Leu432Pro) rs544297180 0.00001
NM_015072.5(TTLL5):c.1303A>G (p.Ser435Gly) rs1345632163 0.00001
NM_015072.5(TTLL5):c.1340G>A (p.Arg447Gln) rs745935869 0.00001
NM_015072.5(TTLL5):c.1396-6A>T rs1485747526 0.00001
NM_015072.5(TTLL5):c.1426A>G (p.Asn476Asp) rs1344318163 0.00001
NM_015072.5(TTLL5):c.1451G>A (p.Arg484His) rs746377581 0.00001
NM_015072.5(TTLL5):c.1453A>C (p.Ile485Leu) rs770110882 0.00001
NM_015072.5(TTLL5):c.1488-1G>T rs990308427 0.00001
NM_015072.5(TTLL5):c.1569G>A (p.Ala523=) rs756048011 0.00001
NM_015072.5(TTLL5):c.1588A>G (p.Ser530Gly) rs1399561968 0.00001
NM_015072.5(TTLL5):c.1660C>T (p.Arg554Cys) rs768721194 0.00001
NM_015072.5(TTLL5):c.1733A>G (p.Asn578Ser) rs1179379927 0.00001
NM_015072.5(TTLL5):c.1754G>A (p.Ser585Asn) rs749266782 0.00001
NM_015072.5(TTLL5):c.1764G>A (p.Glu588=) rs375691247 0.00001
NM_015072.5(TTLL5):c.181+5G>A rs762077466 0.00001
NM_015072.5(TTLL5):c.1816G>A (p.Glu606Lys) rs762434843 0.00001
NM_015072.5(TTLL5):c.182-11T>G rs1884611963 0.00001
NM_015072.5(TTLL5):c.1826G>A (p.Gly609Glu) rs751543052 0.00001
NM_015072.5(TTLL5):c.1835G>A (p.Arg612Lys) rs1890963625 0.00001
NM_015072.5(TTLL5):c.1847C>G (p.Ala616Gly) rs750134887 0.00001
NM_015072.5(TTLL5):c.1851A>G (p.Lys617=) rs977927246 0.00001
NM_015072.5(TTLL5):c.1947A>T (p.Lys649Asn) rs1890966914 0.00001
NM_015072.5(TTLL5):c.1949T>C (p.Leu650Pro) rs1200300838 0.00001
NM_015072.5(TTLL5):c.1968G>A (p.Glu656=) rs1200293120 0.00001
NM_015072.5(TTLL5):c.1987C>T (p.Gln663Ter) rs754048173 0.00001
NM_015072.5(TTLL5):c.1993C>T (p.Leu665Phe) rs532337280 0.00001
NM_015072.5(TTLL5):c.2015+4T>A rs1405014113 0.00001
NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln) rs765491333 0.00001
NM_015072.5(TTLL5):c.2088C>T (p.Gly696=) rs149255191 0.00001
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144 0.00001
NM_015072.5(TTLL5):c.212G>A (p.Arg71Gln) rs775184984 0.00001
NM_015072.5(TTLL5):c.2146G>A (p.Val716Ile) rs762017662 0.00001
NM_015072.5(TTLL5):c.2149C>T (p.Arg717Cys) rs562332993 0.00001
NM_015072.5(TTLL5):c.2162G>A (p.Arg721Gln) rs746631669 0.00001
NM_015072.5(TTLL5):c.218A>G (p.Asp73Gly) rs1212233539 0.00001
NM_015072.5(TTLL5):c.2260G>C (p.Asp754His) rs1488865083 0.00001
NM_015072.5(TTLL5):c.2268C>T (p.Ile756=) rs756125504 0.00001
NM_015072.5(TTLL5):c.2333A>T (p.Glu778Val) rs1471151107 0.00001
NM_015072.5(TTLL5):c.2354T>C (p.Met785Thr) rs1373380553 0.00001
NM_015072.5(TTLL5):c.2388-10C>T rs1266790286 0.00001
NM_015072.5(TTLL5):c.2388-11C>A rs1054044849 0.00001
NM_015072.5(TTLL5):c.2457G>A (p.Gly819=) rs759018960 0.00001
NM_015072.5(TTLL5):c.2516-6T>A rs752157376 0.00001
NM_015072.5(TTLL5):c.2603-12T>C rs1892160523 0.00001
NM_015072.5(TTLL5):c.2603-4A>G rs550463902 0.00001
NM_015072.5(TTLL5):c.264+1G>A rs1163242822 0.00001
NM_015072.5(TTLL5):c.2722C>G (p.Leu908Val) rs771470144 0.00001
NM_015072.5(TTLL5):c.2748T>C (p.Ser916=) rs776521337 0.00001
NM_015072.5(TTLL5):c.2781C>T (p.Ser927=) rs757720836 0.00001
NM_015072.5(TTLL5):c.278G>C (p.Ser93Thr) rs1884795213 0.00001
NM_015072.5(TTLL5):c.27G>A (p.Leu9=) rs1002516091 0.00001
NM_015072.5(TTLL5):c.2800A>G (p.Ile934Val) rs750728848 0.00001
NM_015072.5(TTLL5):c.2851G>A (p.Ala951Thr) rs769458841 0.00001
NM_015072.5(TTLL5):c.2990C>T (p.Ser997Leu) rs759872181 0.00001
NM_015072.5(TTLL5):c.3011A>G (p.His1004Arg) rs1892808471 0.00001
NM_015072.5(TTLL5):c.3057A>G (p.Leu1019=) rs778638291 0.00001
NM_015072.5(TTLL5):c.3098T>G (p.Leu1033Arg) rs1489208821 0.00001
NM_015072.5(TTLL5):c.3103C>T (p.Arg1035Trp) rs1348688599 0.00001
NM_015072.5(TTLL5):c.3158T>G (p.Leu1053Arg) rs776004403 0.00001
NM_015072.5(TTLL5):c.3165C>G (p.Thr1055=) rs1345050043 0.00001
NM_015072.5(TTLL5):c.3171+5G>A rs374699458 0.00001
NM_015072.5(TTLL5):c.3172-2A>G rs756311924 0.00001
NM_015072.5(TTLL5):c.3172-8A>T rs750662947 0.00001
NM_015072.5(TTLL5):c.3187T>C (p.Leu1063=) rs144549986 0.00001
NM_015072.5(TTLL5):c.3199A>G (p.Ile1067Val) rs772308042 0.00001
NM_015072.5(TTLL5):c.3256A>G (p.Ser1086Gly) rs1894740143 0.00001
NM_015072.5(TTLL5):c.3267A>G (p.Thr1089=) rs113744854 0.00001
NM_015072.5(TTLL5):c.3284A>G (p.Asp1095Gly) rs755007471 0.00001
NM_015072.5(TTLL5):c.3289C>A (p.Gln1097Lys) rs779528644 0.00001
NM_015072.5(TTLL5):c.3339A>G (p.Thr1113=) rs1472952117 0.00001
NM_015072.5(TTLL5):c.3510_3519del (p.Ala1171fs) rs2030237603 0.00001
NM_015072.5(TTLL5):c.3514C>T (p.Arg1172Trp) rs763081813 0.00001
NM_015072.5(TTLL5):c.3521A>T (p.Gln1174Leu) rs2030239631 0.00001
NM_015072.5(TTLL5):c.3638A>C (p.Gln1213Pro) rs1218606466 0.00001
NM_015072.5(TTLL5):c.3662C>A (p.Ser1221Tyr) rs1234999111 0.00001
NM_015072.5(TTLL5):c.3706G>T (p.Val1236Leu) rs753751587 0.00001
NM_015072.5(TTLL5):c.3710T>C (p.Leu1237Pro) rs1226502037 0.00001
NM_015072.5(TTLL5):c.3740+15G>C rs749364611 0.00001
NM_015072.5(TTLL5):c.3751G>A (p.Ala1251Thr) rs749147754 0.00001
NM_015072.5(TTLL5):c.3758G>C (p.Gly1253Ala) rs896484588 0.00001
NM_015072.5(TTLL5):c.3760C>T (p.Gln1254Ter) rs140018292 0.00001
NM_015072.5(TTLL5):c.3777G>A (p.Gln1259=) rs200369228 0.00001
NM_015072.5(TTLL5):c.3779G>A (p.Ser1260Asn) rs780814207 0.00001
NM_015072.5(TTLL5):c.378T>C (p.Tyr126=) rs1489134570 0.00001
NM_015072.5(TTLL5):c.3807C>T (p.Pro1269=) rs773960556 0.00001
NM_015072.5(TTLL5):c.3844T>C (p.Ter1282Arg) rs200245431 0.00001
NM_015072.5(TTLL5):c.388C>T (p.Arg130Trp) rs762832841 0.00001
NM_015072.5(TTLL5):c.463C>G (p.Gln155Glu) rs1266723091 0.00001
NM_015072.5(TTLL5):c.472C>T (p.Leu158Phe) rs751426110 0.00001
NM_015072.5(TTLL5):c.512C>G (p.Ser171Trp) rs755712371 0.00001
NM_015072.5(TTLL5):c.520C>T (p.Arg174Trp) rs768601418 0.00001
NM_015072.5(TTLL5):c.562C>T (p.Arg188Trp) rs773542134 0.00001
NM_015072.5(TTLL5):c.586C>G (p.Pro196Ala) rs936113944 0.00001
NM_015072.5(TTLL5):c.602T>A (p.Leu201Gln) rs527434155 0.00001
NM_015072.5(TTLL5):c.629dup (p.Tyr210Ter) rs775585293 0.00001
NM_015072.5(TTLL5):c.636C>A (p.Asn212Lys) rs1014500396 0.00001
NM_015072.5(TTLL5):c.722A>T (p.Tyr241Phe) rs1268833900 0.00001
NM_015072.5(TTLL5):c.74+3A>G rs758975249 0.00001
NM_015072.5(TTLL5):c.741-13T>G rs371336627 0.00001
NM_015072.5(TTLL5):c.741G>A (p.Arg247=) rs765401548 0.00001
NM_015072.5(TTLL5):c.75-6T>G rs759523095 0.00001
NM_015072.5(TTLL5):c.780T>G (p.Ile260Met) rs754612100 0.00001
NM_015072.5(TTLL5):c.796C>A (p.His266Asn) rs940338882 0.00001
NM_015072.5(TTLL5):c.822G>A (p.Lys274=) rs776319636 0.00001
NM_015072.5(TTLL5):c.839T>C (p.Val280Ala) rs751631931 0.00001
NM_015072.5(TTLL5):c.860T>C (p.Val287Ala) rs1189352859 0.00001
NM_015072.5(TTLL5):c.869A>T (p.Tyr290Phe) rs760341785 0.00001
NM_015072.5(TTLL5):c.906C>T (p.Tyr302=) rs780559854 0.00001
NM_015072.5(TTLL5):c.934+14C>G rs773144591 0.00001
NM_015072.5(TTLL5):c.934G>A (p.Ala312Thr) rs147593414 0.00001
NM_015072.5(TTLL5):c.973A>G (p.Ile325Val) rs1324987122 0.00001
GRCh37/hg19 14q24.3(chr14:76184204-76201632)x0
GRCh37/hg19 14q24.3(chr14:76279519-76359171)x1
NC_000014.8:g.(?_76129493)_(76286524_?)dup
NC_000014.8:g.(?_76129493)_(76420789_?)dup
NC_000014.8:g.(?_76147868)_(76147990_?)del
NC_000014.8:g.(?_76147868)_(76150019_?)del
NC_000014.8:g.(?_76147868)_(76349265_?)dup
NC_000014.8:g.(?_76156515)_(76156685_?)del
NC_000014.8:g.(?_76165511)_(76211944_?)del
NC_000014.8:g.(?_76184184)_(76201652_?)del
NC_000014.8:g.(?_76211418)_(76211944_?)del
NC_000014.8:g.(?_76230938)_(76259463_?)del
NC_000014.8:g.(?_76238057)_(76238217_?)del
NC_000014.8:g.(?_76249470)_(76286524_?)del
NC_000014.8:g.(?_76259239)_(76286524_?)del
NC_000014.8:g.(?_76286330)_(76286524_?)del
NC_000014.8:g.(?_76286330)_(76286524_?)dup
NC_000014.8:g.(?_76286330)_(76349265_?)del
NC_000014.8:g.(?_76368465)_(76368587_?)del
NC_000014.8:g.(?_76420747)_(76420789_?)del
NC_000014.9:g.(?_75745095)_(75783530_?)del
NC_000014.9:g.(?_75757799)_(75766368_?)del
NC_000014.9:g.(?_75782487)_(75902224_?)del
NM_015072.5(TTLL5):c.1000A>C (p.Thr334Pro) rs1340502181
NM_015072.5(TTLL5):c.1000A>G (p.Thr334Ala)
NM_015072.5(TTLL5):c.1001C>T (p.Thr334Ile)
NM_015072.5(TTLL5):c.1006T>A (p.Cys336Ser) rs1887780973
NM_015072.5(TTLL5):c.100G>A (p.Gly34Arg)
NM_015072.5(TTLL5):c.1027C>T (p.Arg343Cys) rs534989089
NM_015072.5(TTLL5):c.1043-10G>A rs1393443434
NM_015072.5(TTLL5):c.1043-20G>A
NM_015072.5(TTLL5):c.1043-7T>A rs764027289
NM_015072.5(TTLL5):c.1044A>G (p.Glu348=)
NM_015072.5(TTLL5):c.1048T>C (p.Tyr350His) rs1888599962
NM_015072.5(TTLL5):c.1049A>G (p.Tyr350Cys)
NM_015072.5(TTLL5):c.1049_1050del (p.Tyr350fs)
NM_015072.5(TTLL5):c.1053C>G (p.Gly351=)
NM_015072.5(TTLL5):c.1063C>G (p.Leu355Val) rs1888600511
NM_015072.5(TTLL5):c.1086A>G (p.Pro362=) rs146212436
NM_015072.5(TTLL5):c.1089del (p.Trp363fs)
NM_015072.5(TTLL5):c.1103A>C (p.Asn368Thr)
NM_015072.5(TTLL5):c.1107C>G (p.Leu369=)
NM_015072.5(TTLL5):c.1110_1111del (p.Pro371fs)
NM_015072.5(TTLL5):c.1112CTT[1] (p.Ser372del)
NM_015072.5(TTLL5):c.1124+68del rs5809726
NM_015072.5(TTLL5):c.1124+7_1124+8del
NM_015072.5(TTLL5):c.1124+8A>T rs776079901
NM_015072.5(TTLL5):c.1124+9G>T
NM_015072.5(TTLL5):c.1130C>T (p.Ala377Val)
NM_015072.5(TTLL5):c.1138G>T (p.Asp380Tyr)
NM_015072.5(TTLL5):c.1152A>G (p.Lys384=)
NM_015072.5(TTLL5):c.1186+13A>G
NM_015072.5(TTLL5):c.1186+18C>G
NM_015072.5(TTLL5):c.1186+1G>A
NM_015072.5(TTLL5):c.1186+1del rs2140236907
NM_015072.5(TTLL5):c.1187-14C>T
NM_015072.5(TTLL5):c.1187-20G>A
NM_015072.5(TTLL5):c.1187-2A>G
NM_015072.5(TTLL5):c.1187-8_1187-7delinsTG rs2140239015
NM_015072.5(TTLL5):c.1187-9C>A
NM_015072.5(TTLL5):c.1188A>G (p.Gly396=)
NM_015072.5(TTLL5):c.1194G>T (p.Val398=) rs760462202
NM_015072.5(TTLL5):c.1213C>T (p.Arg405Trp)
NM_015072.5(TTLL5):c.1225C>T (p.Arg409Trp)
NM_015072.5(TTLL5):c.1227G>T (p.Arg409=) rs1191504919
NM_015072.5(TTLL5):c.1231A>G (p.Ile411Val)
NM_015072.5(TTLL5):c.1241C>T (p.Thr414Ile) rs1034642536
NM_015072.5(TTLL5):c.1242C>T (p.Thr414=)
NM_015072.5(TTLL5):c.1242del (p.Phe415fs) rs1309614617
NM_015072.5(TTLL5):c.1245T>A (p.Phe415Leu) rs1394272444
NM_015072.5(TTLL5):c.1248del (p.Glu416fs) rs1408235770
NM_015072.5(TTLL5):c.1258C>G (p.Arg420Gly) rs541400148
NM_015072.5(TTLL5):c.1258C>T (p.Arg420Ter) rs541400148
NM_015072.5(TTLL5):c.1265C>A (p.Pro422His)
NM_015072.5(TTLL5):c.1269C>T (p.Phe423=)
NM_015072.5(TTLL5):c.1270C>T (p.Gln424Ter)
NM_015072.5(TTLL5):c.1281+17G>C
NM_015072.5(TTLL5):c.1281+18C>G
NM_015072.5(TTLL5):c.1281+18C>T
NM_015072.5(TTLL5):c.1281+19A>G
NM_015072.5(TTLL5):c.1282-16A>G
NM_015072.5(TTLL5):c.1282-18_1282-17delinsAA
NM_015072.5(TTLL5):c.1282-20_1282-18del
NM_015072.5(TTLL5):c.1282-2A>G
NM_015072.5(TTLL5):c.1282C>T (p.Arg428Cys) rs1159674027
NM_015072.5(TTLL5):c.1285T>G (p.Cys429Gly)
NM_015072.5(TTLL5):c.1288C>G (p.Arg430Gly) rs766847101
NM_015072.5(TTLL5):c.1288C>T (p.Arg430Cys) rs766847101
NM_015072.5(TTLL5):c.1301C>T (p.Ala434Val) rs1889526717
NM_015072.5(TTLL5):c.1302C>A (p.Ala434=)
NM_015072.5(TTLL5):c.1311G>A (p.Ala437=)
NM_015072.5(TTLL5):c.1312G>T (p.Glu438Ter) rs2140258948
NM_015072.5(TTLL5):c.1327G>A (p.Val443Met) rs150806352
NM_015072.5(TTLL5):c.1327G>T (p.Val443Leu) rs150806352
NM_015072.5(TTLL5):c.1339C>G (p.Arg447Gly) rs139653147
NM_015072.5(TTLL5):c.1339C>T (p.Arg447Trp) rs139653147
NM_015072.5(TTLL5):c.1340G>C (p.Arg447Pro)
NM_015072.5(TTLL5):c.1353A>G (p.Pro451=)
NM_015072.5(TTLL5):c.1359G>A (p.Lys453=)
NM_015072.5(TTLL5):c.1372G>C (p.Val458Leu) rs1286182596
NM_015072.5(TTLL5):c.1395+14C>T
NM_015072.5(TTLL5):c.1395+20A>C
NM_015072.5(TTLL5):c.1396-12T>C
NM_015072.5(TTLL5):c.1396-16C>T
NM_015072.5(TTLL5):c.1396-1G>C
NM_015072.5(TTLL5):c.139G>T (p.Asp47Tyr) rs777806616
NM_015072.5(TTLL5):c.13A>T (p.Met5Leu) rs1467031622
NM_015072.5(TTLL5):c.1403T>G (p.Val468Gly) rs2140259750
NM_015072.5(TTLL5):c.1432C>T (p.Arg478Trp)
NM_015072.5(TTLL5):c.1436G>A (p.Arg479Gln)
NM_015072.5(TTLL5):c.1442G>C (p.Gly481Ala) rs771482604
NM_015072.5(TTLL5):c.1453A>T (p.Ile485Leu)
NM_015072.5(TTLL5):c.1455A>G (p.Ile485Met)
NM_015072.5(TTLL5):c.1460_1464delinsTC (p.Pro487_Thr488delinsLeu)
NM_015072.5(TTLL5):c.1462A>G (p.Thr488Ala)
NM_015072.5(TTLL5):c.1464A>G (p.Thr488=) rs1186595068
NM_015072.5(TTLL5):c.1464A>T (p.Thr488=) rs1186595068
NM_015072.5(TTLL5):c.1476G>A (p.Trp492Ter)
NM_015072.5(TTLL5):c.1482A>G (p.Ile494Met)
NM_015072.5(TTLL5):c.1483T>A (p.Tyr495Asn) rs1594960482
NM_015072.5(TTLL5):c.1483T>C (p.Tyr495His)
NM_015072.5(TTLL5):c.1487+10C>A rs1406825117
NM_015072.5(TTLL5):c.1487+13C>G
NM_015072.5(TTLL5):c.1487+24del
NM_015072.5(TTLL5):c.1487+24dup rs200428868
NM_015072.5(TTLL5):c.1487+8G>A
NM_015072.5(TTLL5):c.1488-13C>A rs2140274638
NM_015072.5(TTLL5):c.1493A>G (p.Tyr498Cys) rs758716349
NM_015072.5(TTLL5):c.1493A>T (p.Tyr498Phe) rs758716349
NM_015072.5(TTLL5):c.1506G>T (p.Lys502Asn) rs950066641
NM_015072.5(TTLL5):c.1509C>T (p.Thr503=) rs2140274685
NM_015072.5(TTLL5):c.1519T>G (p.Tyr507Asp)
NM_015072.5(TTLL5):c.1520A>C (p.Tyr507Ser) rs201413053
NM_015072.5(TTLL5):c.1520A>G (p.Tyr507Cys) rs201413053
NM_015072.5(TTLL5):c.1550+17C>T
NM_015072.5(TTLL5):c.1550G>A (p.Arg517Lys) rs2140274721
NM_015072.5(TTLL5):c.1551-2A>G rs1359166382
NM_015072.5(TTLL5):c.1551-3T>C
NM_015072.5(TTLL5):c.1551-4C>T rs1473312189
NM_015072.5(TTLL5):c.1558G>A (p.Ala520Thr)
NM_015072.5(TTLL5):c.155del (p.Lys52fs)
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789
NM_015072.5(TTLL5):c.1585G>A (p.Glu529Lys)
NM_015072.5(TTLL5):c.1587G>A (p.Glu529=)
NM_015072.5(TTLL5):c.1592T>C (p.Leu531Pro) rs147617989
NM_015072.5(TTLL5):c.1594A>C (p.Asn532His) rs554208608
NM_015072.5(TTLL5):c.1607A>G (p.Lys536Arg) rs1382142246
NM_015072.5(TTLL5):c.1619C>T (p.Ala540Val) rs1178403095
NM_015072.5(TTLL5):c.1624T>G (p.Tyr542Asp) rs760056637
NM_015072.5(TTLL5):c.1627G>T (p.Glu543Ter) rs199882533
NM_015072.5(TTLL5):c.162C>T (p.Asn54=)
NM_015072.5(TTLL5):c.1634A>T (p.Lys545Met) rs1464081739
NM_015072.5(TTLL5):c.1637T>C (p.Leu546Pro)
NM_015072.5(TTLL5):c.1642T>C (p.Ser548Pro)
NM_015072.5(TTLL5):c.1644T>C (p.Ser548=) rs2140296882
NM_015072.5(TTLL5):c.1650G>A (p.Glu550=)
NM_015072.5(TTLL5):c.1665ACG[1] (p.Arg557del)
NM_015072.5(TTLL5):c.1666C>A (p.Arg556=) rs770811029
NM_015072.5(TTLL5):c.1666C>G (p.Arg556Gly) rs770811029
NM_015072.5(TTLL5):c.1666C>T (p.Arg556Ter) rs770811029
NM_015072.5(TTLL5):c.1673G>C (p.Ser558Thr) rs771095455
NM_015072.5(TTLL5):c.1685G>A (p.Arg562Lys)
NM_015072.5(TTLL5):c.1691T>C (p.Met564Thr)
NM_015072.5(TTLL5):c.1705C>T (p.Pro569Ser) rs764559135
NM_015072.5(TTLL5):c.1706C>T (p.Pro569Leu) rs1890859098
NM_015072.5(TTLL5):c.1708+11G>A
NM_015072.5(TTLL5):c.1709-18G>T
NM_015072.5(TTLL5):c.1709-19A>T rs2140299070
NM_015072.5(TTLL5):c.1709-19_1709-13del
NM_015072.5(TTLL5):c.1709-20T>G
NM_015072.5(TTLL5):c.1709-7T>A rs2359870
NM_015072.5(TTLL5):c.1709-8_1709-7inv
NM_015072.5(TTLL5):c.1719A>G (p.Gln573=) rs200095377
NM_015072.5(TTLL5):c.1721C>A (p.Pro574Gln) rs2140299148
NM_015072.5(TTLL5):c.1734T>C (p.Asn578=)
NM_015072.5(TTLL5):c.1738A>T (p.Lys580Ter)
NM_015072.5(TTLL5):c.174A>G (p.Val58=)
NM_015072.5(TTLL5):c.1766A>G (p.Glu589Gly)
NM_015072.5(TTLL5):c.1773C>A (p.Val591=) rs61741261
NM_015072.5(TTLL5):c.1782T>C (p.Asp594=)
NM_015072.5(TTLL5):c.1790A>G (p.Asp597Gly)
NM_015072.5(TTLL5):c.1800G>A (p.Gln600=)
NM_015072.5(TTLL5):c.1803G>A (p.Glu601=) rs1333657823
NM_015072.5(TTLL5):c.1804G>A (p.Ala602Thr) rs752254666
NM_015072.5(TTLL5):c.181+18C>G
NM_015072.5(TTLL5):c.181+7A>G
NM_015072.5(TTLL5):c.181+9A>G
NM_015072.5(TTLL5):c.1810del (p.Gln604fs) rs1890963211
NM_015072.5(TTLL5):c.1812G>A (p.Gln604=)
NM_015072.5(TTLL5):c.181G>A (p.Glu61Lys) rs2140090695
NM_015072.5(TTLL5):c.182-17A>G rs1483184702
NM_015072.5(TTLL5):c.182-4T>A rs2140117778
NM_015072.5(TTLL5):c.1821T>C (p.Ser607=) rs763577337
NM_015072.5(TTLL5):c.1827A>G (p.Gly609=)
NM_015072.5(TTLL5):c.1858C>A (p.Pro620Thr) rs1313446228
NM_015072.5(TTLL5):c.1873T>G (p.Leu625Val)
NM_015072.5(TTLL5):c.1888C>G (p.Pro630Ala) rs1890964850
NM_015072.5(TTLL5):c.1897A>T (p.Asn633Tyr) rs141429300
NM_015072.5(TTLL5):c.1906A>C (p.Lys636Gln) rs760885007
NM_015072.5(TTLL5):c.1906A>G (p.Lys636Glu) rs760885007
NM_015072.5(TTLL5):c.190C>A (p.His64Asn) rs1045431257
NM_015072.5(TTLL5):c.1913G>A (p.Arg638His) rs1399888208
NM_015072.5(TTLL5):c.1914T>C (p.Arg638=)
NM_015072.5(TTLL5):c.1917A>G (p.Glu639=)
NM_015072.5(TTLL5):c.1924A>G (p.Asn642Asp) rs1286609816
NM_015072.5(TTLL5):c.1935A>G (p.Gly645=) rs1017236925
NM_015072.5(TTLL5):c.1937A>C (p.His646Pro) rs1223629458
NM_015072.5(TTLL5):c.1962G>A (p.Glu654=)
NM_015072.5(TTLL5):c.1970C>T (p.Pro657Leu) rs1890967870
NM_015072.5(TTLL5):c.200A>G (p.Tyr67Cys)
NM_015072.5(TTLL5):c.2015+17_2015+22del rs2140299424
NM_015072.5(TTLL5):c.2015+7A>G
NM_015072.5(TTLL5):c.2015G>A (p.Ser672Asn) rs748183829
NM_015072.5(TTLL5):c.2016-20G>A rs1891334608
NM_015072.5(TTLL5):c.2016-3T>C rs1566596891
NM_015072.5(TTLL5):c.2023C>T (p.Gln675Ter)
NM_015072.5(TTLL5):c.2064A>G (p.Gln688=)
NM_015072.5(TTLL5):c.2068C>T (p.Arg690Cys)
NM_015072.5(TTLL5):c.2079A>G (p.Lys693=) rs2140309147
NM_015072.5(TTLL5):c.2091T>C (p.Gly697=)
NM_015072.5(TTLL5):c.2097G>A (p.Thr699=)
NM_015072.5(TTLL5):c.2100C>A (p.Phe700Leu)
NM_015072.5(TTLL5):c.2106C>T (p.Ala702=)
NM_015072.5(TTLL5):c.2108G>A (p.Ser703Asn) rs1891340387
NM_015072.5(TTLL5):c.2131_2136+20del
NM_015072.5(TTLL5):c.2136+10T>G
NM_015072.5(TTLL5):c.2136+13T>C
NM_015072.5(TTLL5):c.2136+18G>C
NM_015072.5(TTLL5):c.2136+72del rs57636956
NM_015072.5(TTLL5):c.2137-16A>T
NM_015072.5(TTLL5):c.2137-17G>A
NM_015072.5(TTLL5):c.2137-18C>T
NM_015072.5(TTLL5):c.2137-20C>T
NM_015072.5(TTLL5):c.2137-5del rs775309945
NM_015072.5(TTLL5):c.2137-7T>C
NM_015072.5(TTLL5):c.2155C>T (p.Leu719Phe) rs2140317194
NM_015072.5(TTLL5):c.2159_2160delinsTT (p.Lys720Ile) rs2140317201
NM_015072.5(TTLL5):c.2176C>T (p.Leu726Phe) rs1224068762
NM_015072.5(TTLL5):c.2182C>T (p.His728Tyr) rs2140317232
NM_015072.5(TTLL5):c.2190G>A (p.Leu730=)
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015072.5(TTLL5):c.2215T>A (p.Leu739Met) rs774690827
NM_015072.5(TTLL5):c.2220A>G (p.Ala740=)
NM_015072.5(TTLL5):c.224G>A (p.Arg75His) rs751047559
NM_015072.5(TTLL5):c.2251del (p.Gln751fs)
NM_015072.5(TTLL5):c.2261dup (p.Asp754fs) rs1891670149
NM_015072.5(TTLL5):c.2264T>G (p.Phe755Cys) rs2140317314
NM_015072.5(TTLL5):c.2284-10C>T rs2140319388
NM_015072.5(TTLL5):c.2284-5G>C
NM_015072.5(TTLL5):c.2289A>T (p.Thr763=) rs1462462775
NM_015072.5(TTLL5):c.2290_2291del (p.Glu764fs) rs2140319419
NM_015072.5(TTLL5):c.2312C>G (p.Ser771Ter) rs886043466
NM_015072.5(TTLL5):c.2316GAA[1] (p.Lys774del) rs2140319429
NM_015072.5(TTLL5):c.2328G>A (p.Glu776=)
NM_015072.5(TTLL5):c.2334_2342del (p.Glu778_Glu780del) rs1251545673
NM_015072.5(TTLL5):c.2349G>A (p.Val783=) rs2140319468
NM_015072.5(TTLL5):c.2365C>T (p.Gln789Ter)
NM_015072.5(TTLL5):c.2387+20G>A
NM_015072.5(TTLL5):c.2388-19C>T
NM_015072.5(TTLL5):c.2388-1G>C rs1206062558
NM_015072.5(TTLL5):c.2388-8_2388-6del
NM_015072.5(TTLL5):c.2394T>A (p.Ala798=)
NM_015072.5(TTLL5):c.2406G>A (p.Glu802=) rs2140324726
NM_015072.5(TTLL5):c.2414C>A (p.Thr805Asn)
NM_015072.5(TTLL5):c.2420A>T (p.Tyr807Phe)
NM_015072.5(TTLL5):c.2442T>C (p.Ala814=) rs2140324758
NM_015072.5(TTLL5):c.2452C>T (p.Leu818=)
NM_015072.5(TTLL5):c.2478G>A (p.Lys826=)
NM_015072.5(TTLL5):c.2487C>A (p.Asn829Lys) rs1261281488
NM_015072.5(TTLL5):c.2489A>G (p.Asn830Ser)
NM_015072.5(TTLL5):c.2497G>C (p.Asp833His)
NM_015072.5(TTLL5):c.2501G>T (p.Ser834Ile) rs774808403
NM_015072.5(TTLL5):c.2515+1G>C
NM_015072.5(TTLL5):c.2516-7A>T rs1892118227
NM_015072.5(TTLL5):c.2517T>G (p.Asp839Glu) rs1892118713
NM_015072.5(TTLL5):c.2518C>A (p.His840Asn) rs371166683
NM_015072.5(TTLL5):c.2522C>T (p.Pro841Leu) rs2140330245
NM_015072.5(TTLL5):c.2569C>G (p.Gln857Glu)
NM_015072.5(TTLL5):c.2574G>A (p.Thr858=) rs779622224
NM_015072.5(TTLL5):c.2589T>C (p.Ser863=) rs1440091467
NM_015072.5(TTLL5):c.258T>C (p.Phe86=) rs2140117874
NM_015072.5(TTLL5):c.2591A>T (p.Asp864Val) rs1892120478
NM_015072.5(TTLL5):c.2602+19A>T rs1381455754
NM_015072.5(TTLL5):c.2602+20C>T rs762514241
NM_015072.5(TTLL5):c.2602C>T (p.Arg868Ter)
NM_015072.5(TTLL5):c.2603-16G>C rs369628617
NM_015072.5(TTLL5):c.2603-23TTGTT[2]
NM_015072.5(TTLL5):c.2603-6T>C rs1892161138
NM_015072.5(TTLL5):c.260_261dup (p.Glu88fs)
NM_015072.5(TTLL5):c.2625A>G (p.Lys875=)
NM_015072.5(TTLL5):c.2630C>T (p.Ala877Val) rs766256432
NM_015072.5(TTLL5):c.264+18A>G
NM_015072.5(TTLL5):c.264+20C>T rs2140117924
NM_015072.5(TTLL5):c.2641del (p.Tyr881fs) rs2140331365
NM_015072.5(TTLL5):c.264A>G (p.Glu88=)
NM_015072.5(TTLL5):c.265-10C>G rs1230146916
NM_015072.5(TTLL5):c.265-12G>A
NM_015072.5(TTLL5):c.265-12G>C
NM_015072.5(TTLL5):c.265-18C>T
NM_015072.5(TTLL5):c.265-19T>C
NM_015072.5(TTLL5):c.265-3C>G
NM_015072.5(TTLL5):c.265-5del rs2140122495
NM_015072.5(TTLL5):c.2655C>T (p.Ser885=)
NM_015072.5(TTLL5):c.2657C>G (p.Ser886Cys)
NM_015072.5(TTLL5):c.2661T>C (p.Gly887=) rs1892166476
NM_015072.5(TTLL5):c.2665A>C (p.Thr889Pro)
NM_015072.5(TTLL5):c.2665A>G (p.Thr889Ala) rs778408194
NM_015072.5(TTLL5):c.2667T>C (p.Thr889=)
NM_015072.5(TTLL5):c.2690A>G (p.Asn897Ser) rs757665738
NM_015072.5(TTLL5):c.2706T>C (p.Ser902=)
NM_015072.5(TTLL5):c.2711C>T (p.Thr904Ile) rs768247311
NM_015072.5(TTLL5):c.2733G>C (p.Gly911=)
NM_015072.5(TTLL5):c.2738G>T (p.Cys913Phe) rs2140331433
NM_015072.5(TTLL5):c.273A>G (p.Pro91=)
NM_015072.5(TTLL5):c.2751T>C (p.Ser917=)
NM_015072.5(TTLL5):c.2752T>G (p.Leu918Val) rs1892168619
NM_015072.5(TTLL5):c.275G>A (p.Ser92Asn) rs747929606
NM_015072.5(TTLL5):c.2760A>C (p.Gln920His) rs765493292
NM_015072.5(TTLL5):c.2760A>G (p.Gln920=)
NM_015072.5(TTLL5):c.2760A>T (p.Gln920His) rs765493292
NM_015072.5(TTLL5):c.2795C>T (p.Pro932Leu) rs2140331485
NM_015072.5(TTLL5):c.2806C>G (p.Leu936Val)
NM_015072.5(TTLL5):c.2812A>T (p.Thr938Ser) rs1004435343
NM_015072.5(TTLL5):c.2837G>A (p.Cys946Tyr) rs1175617813
NM_015072.5(TTLL5):c.2841A>G (p.Leu947=)
NM_015072.5(TTLL5):c.2846C>G (p.Pro949Arg)
NM_015072.5(TTLL5):c.2864C>G (p.Pro955Arg)
NM_015072.5(TTLL5):c.287A>G (p.Tyr96Cys)
NM_015072.5(TTLL5):c.2885G>T (p.Arg962Leu)
NM_015072.5(TTLL5):c.2885dup (p.Cys963fs) rs2140331555
NM_015072.5(TTLL5):c.2890C>T (p.Arg964Ter) rs777359273
NM_015072.5(TTLL5):c.2892A>T (p.Arg964=) rs1595033317
NM_015072.5(TTLL5):c.2933G>A (p.Ser978Asn)
NM_015072.5(TTLL5):c.2936C>T (p.Ala979Val) rs2140331610
NM_015072.5(TTLL5):c.2942A>G (p.His981Arg) rs2140331617
NM_015072.5(TTLL5):c.2968C>G (p.Pro990Ala) rs2140331655
NM_015072.5(TTLL5):c.2975C>T (p.Ser992Leu) rs766790509
NM_015072.5(TTLL5):c.2986+14C>A
NM_015072.5(TTLL5):c.2986+14C>T
NM_015072.5(TTLL5):c.2986+15G>A
NM_015072.5(TTLL5):c.2987-10G>T rs777187943
NM_015072.5(TTLL5):c.2987-12C>G
NM_015072.5(TTLL5):c.2987-4G>T rs1051974404
NM_015072.5(TTLL5):c.2991G>A (p.Ser997=)
NM_015072.5(TTLL5):c.2994C>G (p.Cys998Trp)
NM_015072.5(TTLL5):c.2996A>G (p.Tyr999Cys)
NM_015072.5(TTLL5):c.2999T>C (p.Leu1000Pro) rs2140351914
NM_015072.5(TTLL5):c.3006G>A (p.Lys1002=)
NM_015072.5(TTLL5):c.3019A>T (p.Ile1007Leu)
NM_015072.5(TTLL5):c.301A>C (p.Thr101Pro) rs1469769763
NM_015072.5(TTLL5):c.3049G>A (p.Ala1017Thr) rs1892808918
NM_015072.5(TTLL5):c.3077A>C (p.Gln1026Pro)
NM_015072.5(TTLL5):c.3095A>G (p.Glu1032Gly) rs775951384
NM_015072.5(TTLL5):c.3096A>T (p.Glu1032Asp) rs1396679992
NM_015072.5(TTLL5):c.3100C>T (p.Gln1034Ter)
NM_015072.5(TTLL5):c.3105G>A (p.Arg1035=)
NM_015072.5(TTLL5):c.3108A>G (p.Leu1036=)
NM_015072.5(TTLL5):c.311A>G (p.His104Arg) rs1884796366
NM_015072.5(TTLL5):c.3125C>T (p.Ala1042Val)
NM_015072.5(TTLL5):c.3131A>G (p.Gln1044Arg) rs1003579033
NM_015072.5(TTLL5):c.3134A>G (p.Tyr1045Cys)
NM_015072.5(TTLL5):c.313C>T (p.Leu105=)
NM_015072.5(TTLL5):c.3140C>T (p.Pro1047Leu)
NM_015072.5(TTLL5):c.3144C>G (p.Ser1048=)
NM_015072.5(TTLL5):c.3153C>A (p.Ile1051=) rs2140352043
NM_015072.5(TTLL5):c.3154A>C (p.Asn1052His)
NM_015072.5(TTLL5):c.3157CTC[1] (p.Leu1054del)
NM_015072.5(TTLL5):c.3159C>T (p.Leu1053=)
NM_015072.5(TTLL5):c.3168A>G (p.Gln1056=)
NM_015072.5(TTLL5):c.3171+19G>A
NM_015072.5(TTLL5):c.3171+9G>T rs2140352083
NM_015072.5(TTLL5):c.3172-14C>A rs199868150
NM_015072.5(TTLL5):c.3172-14C>T
NM_015072.5(TTLL5):c.3172-16C>T rs762842146
NM_015072.5(TTLL5):c.3174A>G (p.Val1058=)
NM_015072.5(TTLL5):c.3177_3180del (p.Thr1059_Asn1060insTer) rs772656461
NM_015072.5(TTLL5):c.3180C>A (p.Asn1060Lys)
NM_015072.5(TTLL5):c.3193A>C (p.Thr1065Pro)
NM_015072.5(TTLL5):c.3193A>G (p.Thr1065Ala) rs1894738201
NM_015072.5(TTLL5):c.319C>G (p.Pro107Ala)
NM_015072.5(TTLL5):c.3200T>C (p.Ile1067Thr) rs1329633330
NM_015072.5(TTLL5):c.3212G>A (p.Ser1071Asn) rs1894738719
NM_015072.5(TTLL5):c.3234C>T (p.Thr1078=) rs762894054
NM_015072.5(TTLL5):c.3238C>T (p.Arg1080Ter)
NM_015072.5(TTLL5):c.3239G>A (p.Arg1080Gln)
NM_015072.5(TTLL5):c.3240A>C (p.Arg1080=)
NM_015072.5(TTLL5):c.3245T>A (p.Ile1082Asn) rs1894739838
NM_015072.5(TTLL5):c.3246C>T (p.Ile1082=)
NM_015072.5(TTLL5):c.3253C>A (p.Pro1085Thr)
NM_015072.5(TTLL5):c.3297C>T (p.Pro1099=)
NM_015072.5(TTLL5):c.331C>A (p.Arg111Ser) rs761381633
NM_015072.5(TTLL5):c.3326G>A (p.Arg1109Lys)
NM_015072.5(TTLL5):c.3326G>C (p.Arg1109Thr)
NM_015072.5(TTLL5):c.3327-20C>T
NM_015072.5(TTLL5):c.3327-7_3327-3del rs2030226103
NM_015072.5(TTLL5):c.3329del (p.Ser1110fs) rs759929075
NM_015072.5(TTLL5):c.332G>A (p.Arg111His) rs151197710
NM_015072.5(TTLL5):c.3333G>A (p.Leu1111=)
NM_015072.5(TTLL5):c.3333G>C (p.Leu1111=)
NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs) rs1595168879
NM_015072.5(TTLL5):c.333C>T (p.Arg111=)
NM_015072.5(TTLL5):c.3344dup (p.Phe1116fs) rs2139945350
NM_015072.5(TTLL5):c.3374_3382del (p.Asn1125_Tyr1127del) rs779761398
NM_015072.5(TTLL5):c.337C>G (p.Leu113Val) rs2140122580
NM_015072.5(TTLL5):c.338T>C (p.Leu113Pro) rs2140122584
NM_015072.5(TTLL5):c.338T>G (p.Leu113Arg)
NM_015072.5(TTLL5):c.3393del (p.Val1133fs) rs2030231685
NM_015072.5(TTLL5):c.3394G>A (p.Gly1132Arg)
NM_015072.5(TTLL5):c.3396G>A (p.Gly1132=)
NM_015072.5(TTLL5):c.3401del (p.Val1134fs)
NM_015072.5(TTLL5):c.3409C>T (p.His1137Tyr)
NM_015072.5(TTLL5):c.3410A>C (p.His1137Pro) rs746857132
NM_015072.5(TTLL5):c.3414G>C (p.Lys1138Asn)
NM_015072.5(TTLL5):c.3423C>G (p.Pro1141=) rs2139945572
NM_015072.5(TTLL5):c.342T>G (p.Ser114=)
NM_015072.5(TTLL5):c.3459G>A (p.Gln1153=) rs2139945657
NM_015072.5(TTLL5):c.3474A>C (p.Gln1158His) rs2139945684
NM_015072.5(TTLL5):c.3487C>T (p.Arg1163Trp) rs199613904
NM_015072.5(TTLL5):c.3494_3495delinsAT (p.Leu1165His) rs2030236549
NM_015072.5(TTLL5):c.3496C>G (p.Leu1166Val) rs577379721
NM_015072.5(TTLL5):c.3496C>T (p.Leu1166=)
NM_015072.5(TTLL5):c.349C>G (p.Gln117Glu) rs140479826
NM_015072.5(TTLL5):c.3505_3522del (p.Ser1169_Gln1174del) rs1390638454
NM_015072.5(TTLL5):c.3522+17C>G
NM_015072.5(TTLL5):c.3522+18T>C
NM_015072.5(TTLL5):c.3522+73G>A rs867363324
NM_015072.5(TTLL5):c.3522+73_3522+74insAAAAAAAA rs869278134
NM_015072.5(TTLL5):c.3522+74_3522+75insA rs1298428665
NM_015072.5(TTLL5):c.3523-13T>C
NM_015072.5(TTLL5):c.3523-19T>G
NM_015072.5(TTLL5):c.3523-20T>G rs2140023739
NM_015072.5(TTLL5):c.3523-4G>A rs756826932
NM_015072.5(TTLL5):c.3523-4G>T rs756826932
NM_015072.5(TTLL5):c.3523-5del rs762310604
NM_015072.5(TTLL5):c.3523-5dup rs762310604
NM_015072.5(TTLL5):c.3523G>T (p.Ala1175Ser)
NM_015072.5(TTLL5):c.3525A>G (p.Ala1175=)
NM_015072.5(TTLL5):c.3536G>A (p.Ser1179Asn)
NM_015072.5(TTLL5):c.3543A>G (p.Thr1181=)
NM_015072.5(TTLL5):c.3543A>T (p.Thr1181=) rs148843544
NM_015072.5(TTLL5):c.3546A>G (p.Leu1182=)
NM_015072.5(TTLL5):c.3548C>G (p.Pro1183Arg)
NM_015072.5(TTLL5):c.3552del (p.Ser1185fs) rs2140023956
NM_015072.5(TTLL5):c.3555C>T (p.Ser1185=)
NM_015072.5(TTLL5):c.355G>A (p.Val119Ile) rs1884797826
NM_015072.5(TTLL5):c.3560T>C (p.Leu1187Ser)
NM_015072.5(TTLL5):c.3564G>T (p.Trp1188Cys)
NM_015072.5(TTLL5):c.3579_3583dup (p.Gly1195fs) rs760158148
NM_015072.5(TTLL5):c.3602C>T (p.Ala1201Val)
NM_015072.5(TTLL5):c.361C>T (p.His121Tyr)
NM_015072.5(TTLL5):c.3631C>G (p.Leu1211Val) rs779153789
NM_015072.5(TTLL5):c.3631C>T (p.Leu1211=)
NM_015072.5(TTLL5):c.365T>G (p.Phe122Cys)
NM_015072.5(TTLL5):c.365_366del (p.Phe122fs) rs2140122597
NM_015072.5(TTLL5):c.3663T>C (p.Ser1221=) rs2140024156
NM_015072.5(TTLL5):c.3667G>A (p.Ala1223Thr) rs10130991
NM_015072.5(TTLL5):c.3667G>T (p.Ala1223Ser) rs10130991
NM_015072.5(TTLL5):c.366T>A (p.Phe122Leu)
NM_015072.5(TTLL5):c.3688C>T (p.Pro1230Ser)
NM_015072.5(TTLL5):c.3706G>A (p.Val1236Met)
NM_015072.5(TTLL5):c.371+9C>T rs1205402984
NM_015072.5(TTLL5):c.371G>A (p.Arg124Lys)
NM_015072.5(TTLL5):c.372-11T>G
NM_015072.5(TTLL5):c.3720A>G (p.Ala1240=) rs1245336874
NM_015072.5(TTLL5):c.3726C>T (p.Ser1242=)
NM_015072.5(TTLL5):c.3740+19A>C
NM_015072.5(TTLL5):c.3741-12T>A
NM_015072.5(TTLL5):c.3744dup (p.Ser1249fs) rs753057666
NM_015072.5(TTLL5):c.3773T>C (p.Leu1258Pro) rs1249204313
NM_015072.5(TTLL5):c.3778A>G (p.Ser1260Gly) rs770500674
NM_015072.5(TTLL5):c.3780C>A (p.Ser1260Arg)
NM_015072.5(TTLL5):c.3794C>T (p.Ala1265Val)
NM_015072.5(TTLL5):c.3804G>A (p.Val1268=)
NM_015072.5(TTLL5):c.3805C>T (p.Pro1269Ser)
NM_015072.5(TTLL5):c.3806C>T (p.Pro1269Leu)
NM_015072.5(TTLL5):c.3812C>A (p.Thr1271Asn) rs1566652888
NM_015072.5(TTLL5):c.3812C>G (p.Thr1271Ser) rs1566652888
NM_015072.5(TTLL5):c.3822A>G (p.Thr1274=) rs2032954310
NM_015072.5(TTLL5):c.3823+7G>A
NM_015072.5(TTLL5):c.3824-17G>T
NM_015072.5(TTLL5):c.3824-20G>C rs755669701
NM_015072.5(TTLL5):c.3824-2A>G rs1595333668
NM_015072.5(TTLL5):c.3824-3C>T rs2035054337
NM_015072.5(TTLL5):c.3824-7T>G rs2035054244
NM_015072.5(TTLL5):c.3824-8T>C
NM_015072.5(TTLL5):c.3834C>A (p.His1278Gln) rs1398956929
NM_015072.5(TTLL5):c.3841A>T (p.Ile1281Leu) rs1320365250
NM_015072.5(TTLL5):c.399A>G (p.Arg133=)
NM_015072.5(TTLL5):c.401del (p.Leu134fs) rs587777470
NM_015072.5(TTLL5):c.410dup (p.Asn137fs)
NM_015072.5(TTLL5):c.418C>A (p.Arg140=) rs1411713248
NM_015072.5(TTLL5):c.418C>G (p.Arg140Gly) rs1411713248
NM_015072.5(TTLL5):c.419G>A (p.Arg140Gln) rs146900909
NM_015072.5(TTLL5):c.434A>C (p.His145Pro) rs776212314
NM_015072.5(TTLL5):c.454A>G (p.Ile152Val) rs1315241372
NM_015072.5(TTLL5):c.456C>T (p.Ile152=) rs2140136746
NM_015072.5(TTLL5):c.485A>T (p.Glu162Val) rs1026058794
NM_015072.5(TTLL5):c.489C>T (p.Tyr163=)
NM_015072.5(TTLL5):c.490G>T (p.Ala164Ser) rs143151165
NM_015072.5(TTLL5):c.4C>G (p.Pro2Ala) rs745443275
NM_015072.5(TTLL5):c.500G>A (p.Cys167Tyr)
NM_015072.5(TTLL5):c.502+12A>G rs1304877484
NM_015072.5(TTLL5):c.503-13A>G rs1886082268
NM_015072.5(TTLL5):c.503-19C>T rs2140155100
NM_015072.5(TTLL5):c.521G>C (p.Arg174Pro) rs141614130
NM_015072.5(TTLL5):c.521_527del (p.Arg174fs)
NM_015072.5(TTLL5):c.525dup (p.Pro176fs)
NM_015072.5(TTLL5):c.52G>A (p.Asp18Asn)
NM_015072.5(TTLL5):c.535G>A (p.Val179Ile) rs1886084547
NM_015072.5(TTLL5):c.541C>G (p.Pro181Ala) rs1886084675
NM_015072.5(TTLL5):c.561G>A (p.Gly187=) rs1449080948
NM_015072.5(TTLL5):c.561del (p.Arg188fs)
NM_015072.5(TTLL5):c.561dup (p.Arg188fs)
NM_015072.5(TTLL5):c.56AGG[1] (p.Glu20del)
NM_015072.5(TTLL5):c.578T>G (p.Ile193Ser) rs1293580959
NM_015072.5(TTLL5):c.581A>G (p.Asn194Ser) rs1886086138
NM_015072.5(TTLL5):c.585+2_585+11del rs2140155252
NM_015072.5(TTLL5):c.585T>C (p.Asn195=)
NM_015072.5(TTLL5):c.586-4A>G
NM_015072.5(TTLL5):c.595A>T (p.Ile199Phe) rs760333318
NM_015072.5(TTLL5):c.60G>T (p.Glu20Asp) rs2140074461
NM_015072.5(TTLL5):c.615T>C (p.Ile205=)
NM_015072.5(TTLL5):c.616T>C (p.Leu206=)
NM_015072.5(TTLL5):c.619G>A (p.Val207Ile)
NM_015072.5(TTLL5):c.626G>T (p.Arg209Leu) rs781617968
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015072.5(TTLL5):c.639C>A (p.Asn213Lys) rs769924591
NM_015072.5(TTLL5):c.645G>T (p.Leu215=)
NM_015072.5(TTLL5):c.649A>G (p.Ile217Val)
NM_015072.5(TTLL5):c.654T>C (p.Asp218=) rs953769070
NM_015072.5(TTLL5):c.655+9T>C rs2140171905
NM_015072.5(TTLL5):c.656-3del rs751439234
NM_015072.5(TTLL5):c.656-3dup rs751439234
NM_015072.5(TTLL5):c.656-5_656-3del rs751439234
NM_015072.5(TTLL5):c.663G>T (p.Lys221Asn)
NM_015072.5(TTLL5):c.669C>T (p.Asp223=)
NM_015072.5(TTLL5):c.670G>C (p.Val224Leu)
NM_015072.5(TTLL5):c.674G>A (p.Arg225His)
NM_015072.5(TTLL5):c.681T>C (p.Tyr227=) rs1886754638
NM_015072.5(TTLL5):c.688G>A (p.Val230Met)
NM_015072.5(TTLL5):c.716A>G (p.Tyr239Cys)
NM_015072.5(TTLL5):c.717T>C (p.Tyr239=)
NM_015072.5(TTLL5):c.720_721del (p.Leu240_Tyr241insTer) rs754950305
NM_015072.5(TTLL5):c.721T>C (p.Tyr241His)
NM_015072.5(TTLL5):c.722A>G (p.Tyr241Cys)
NM_015072.5(TTLL5):c.733T>C (p.Leu245=)
NM_015072.5(TTLL5):c.74+18T>C
NM_015072.5(TTLL5):c.740+11G>A
NM_015072.5(TTLL5):c.740+14T>C
NM_015072.5(TTLL5):c.741-10C>T
NM_015072.5(TTLL5):c.741-19C>G
NM_015072.5(TTLL5):c.741-1G>A rs1887576038
NM_015072.5(TTLL5):c.741-4T>C rs2140197676
NM_015072.5(TTLL5):c.741-5A>G
NM_015072.5(TTLL5):c.75-10G>A
NM_015072.5(TTLL5):c.75-12_75-11del
NM_015072.5(TTLL5):c.75-2A>G rs1314926139
NM_015072.5(TTLL5):c.75-7G>A
NM_015072.5(TTLL5):c.753G>A (p.Val251=) rs2140197703
NM_015072.5(TTLL5):c.756A>G (p.Arg252=)
NM_015072.5(TTLL5):c.763C>G (p.Gln255Glu) rs2140197725
NM_015072.5(TTLL5):c.772A>C (p.Lys258Gln) rs1887576900
NM_015072.5(TTLL5):c.77A>G (p.Asp26Gly)
NM_015072.5(TTLL5):c.787C>T (p.Gln263Ter)
NM_015072.5(TTLL5):c.789_793del (p.Gln263fs)
NM_015072.5(TTLL5):c.831A>G (p.Gly277=)
NM_015072.5(TTLL5):c.837C>T (p.Tyr279=)
NM_015072.5(TTLL5):c.842+1G>A rs1887579263
NM_015072.5(TTLL5):c.842+4C>G rs1018754407
NM_015072.5(TTLL5):c.843-14_843-12del rs1478882119
NM_015072.5(TTLL5):c.843-7G>A rs2140202483
NM_015072.5(TTLL5):c.849C>T (p.Asp283=)
NM_015072.5(TTLL5):c.856G>A (p.Glu286Lys) rs1202712728
NM_015072.5(TTLL5):c.863A>T (p.Glu288Val) rs2140202527
NM_015072.5(TTLL5):c.865G>A (p.Asp289Asn) rs754224109
NM_015072.5(TTLL5):c.867T>C (p.Asp289=)
NM_015072.5(TTLL5):c.873A>C (p.Gly291=) rs2140202544
NM_015072.5(TTLL5):c.885C>A (p.Ser295Arg) rs1887726658
NM_015072.5(TTLL5):c.895A>G (p.Met299Val)
NM_015072.5(TTLL5):c.909G>A (p.Leu303=) rs2140202584
NM_015072.5(TTLL5):c.922A>C (p.Arg308=)
NM_015072.5(TTLL5):c.930A>C (p.Thr310=)
NM_015072.5(TTLL5):c.935-10T>A rs772154589
NM_015072.5(TTLL5):c.935-10T>C
NM_015072.5(TTLL5):c.938T>G (p.Leu313Trp)
NM_015072.5(TTLL5):c.940A>G (p.Met314Val)
NM_015072.5(TTLL5):c.951A>G (p.Val317=)
NM_015072.5(TTLL5):c.957C>A (p.Asp319Glu) rs765689042
NM_015072.5(TTLL5):c.957C>T (p.Asp319=)
NM_015072.5(TTLL5):c.95G>A (p.Trp32Ter)
NM_015072.5(TTLL5):c.960G>A (p.Leu320=) rs775691366
NM_015072.5(TTLL5):c.960G>C (p.Leu320=)
NM_015072.5(TTLL5):c.968_973del (p.Lys323_Thr324del) rs926135196
NM_015072.5(TTLL5):c.976del (p.Ile326fs) rs1887780037
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp) rs1555384338
NM_015072.5(TTLL5):c.989T>A (p.Leu330Gln) rs765872484
NM_015072.5(TTLL5):c.992C>T (p.Ala331Val)
NM_015072.5(TTLL5):c.993T>C (p.Ala331=)
NM_015072.5(TTLL5):c.9C>G (p.Ile3Met) rs755802095
NM_015072.5(TTLL5):c.9C>T (p.Ile3=) rs755802095

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.