ClinVar Miner

List of variants in gene TTLL5 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 455
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln) rs142465256 0.00090
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.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.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.3419A>G (p.His1140Arg) rs140038179 0.00028
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.501T>C (p.Cys167=) rs367911993 0.00019
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.1159A>G (p.Met387Val) rs201783571 0.00014
NM_015072.5(TTLL5):c.1903A>G (p.Met635Val) rs145086453 0.00014
NM_015072.5(TTLL5):c.2357A>T (p.Glu786Val) rs372279209 0.00013
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.377A>C (p.Tyr126Ser) rs138271588 0.00011
NM_015072.5(TTLL5):c.568G>A (p.Val190Ile) rs374783896 0.00011
NM_015072.5(TTLL5):c.412A>G (p.Ile138Val) rs780232533 0.00010
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.3785T>C (p.Leu1262Pro) rs143635737 0.00009
NM_015072.5(TTLL5):c.51G>C (p.Glu17Asp) rs369916219 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.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.3691C>T (p.Pro1231Ser) rs11844617 0.00007
NM_015072.5(TTLL5):c.2815G>A (p.Val939Ile) rs200806918 0.00006
NM_015072.5(TTLL5):c.431C>T (p.Thr144Ile) rs200596181 0.00006
NM_015072.5(TTLL5):c.491C>T (p.Ala164Val) rs370083774 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.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.25C>G (p.Leu9Val) rs747924529 0.00005
NM_015072.5(TTLL5):c.3104G>A (p.Arg1035Gln) rs767213119 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.1259G>A (p.Arg420Gln) rs770816273 0.00004
NM_015072.5(TTLL5):c.127G>T (p.Val43Leu) rs144141238 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.2143G>C (p.Val715Leu) rs751595648 0.00004
NM_015072.5(TTLL5):c.2210G>A (p.Arg737Gln) rs762742540 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.3020T>C (p.Ile1007Thr) rs754769449 0.00004
NM_015072.5(TTLL5):c.3145A>G (p.Ser1049Gly) rs147228168 0.00004
NM_015072.5(TTLL5):c.3263C>T (p.Pro1088Leu) rs767195442 0.00004
NM_015072.5(TTLL5):c.3700G>A (p.Glu1234Lys) rs772723003 0.00004
NM_015072.5(TTLL5):c.3753G>A (p.Ala1251=) rs142835737 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.1070A>T (p.Asp357Val) rs756216913 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.625C>T (p.Arg209Cys) rs757525224 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.1222A>G (p.Thr408Ala) rs752741850 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.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.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.2040C>G (p.Phe680Leu) rs758606045 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.260A>G (p.His87Arg) rs1392147107 0.00002
NM_015072.5(TTLL5):c.2648A>G (p.Asn883Ser) rs752768188 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.3562T>C (p.Trp1188Arg) rs771218524 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.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.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.1099G>A (p.Val367Met) rs1361306305 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.1235A>T (p.Tyr412Phe) rs757710361 0.00001
NM_015072.5(TTLL5):c.1271A>G (p.Gln424Arg) rs769960522 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.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.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.181+5G>A rs762077466 0.00001
NM_015072.5(TTLL5):c.1816G>A (p.Glu606Lys) rs762434843 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.1947A>T (p.Lys649Asn) rs1890966914 0.00001
NM_015072.5(TTLL5):c.1949T>C (p.Leu650Pro) rs1200300838 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.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.2333A>T (p.Glu778Val) rs1471151107 0.00001
NM_015072.5(TTLL5):c.2354T>C (p.Met785Thr) rs1373380553 0.00001
NM_015072.5(TTLL5):c.2516-6T>A rs752157376 0.00001
NM_015072.5(TTLL5):c.2722C>G (p.Leu908Val) rs771470144 0.00001
NM_015072.5(TTLL5):c.278G>C (p.Ser93Thr) rs1884795213 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.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.3171+5G>A rs374699458 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.3284A>G (p.Asp1095Gly) rs755007471 0.00001
NM_015072.5(TTLL5):c.3289C>A (p.Gln1097Lys) rs779528644 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.3751G>A (p.Ala1251Thr) rs749147754 0.00001
NM_015072.5(TTLL5):c.3758G>C (p.Gly1253Ala) rs896484588 0.00001
NM_015072.5(TTLL5):c.3779G>A (p.Ser1260Asn) rs780814207 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.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.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.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.934G>A (p.Ala312Thr) rs147593414 0.00001
NM_015072.5(TTLL5):c.973A>G (p.Ile325Val) rs1324987122 0.00001
NC_000014.8:g.(?_76129493)_(76286524_?)dup
NC_000014.8:g.(?_76368465)_(76368587_?)del
NC_000014.8:g.(?_76420747)_(76420789_?)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.1043-7T>A rs764027289
NM_015072.5(TTLL5):c.1048T>C (p.Tyr350His) rs1888599962
NM_015072.5(TTLL5):c.1049A>G (p.Tyr350Cys)
NM_015072.5(TTLL5):c.1063C>G (p.Leu355Val) rs1888600511
NM_015072.5(TTLL5):c.1103A>C (p.Asn368Thr)
NM_015072.5(TTLL5):c.1112CTT[1] (p.Ser372del)
NM_015072.5(TTLL5):c.1130C>T (p.Ala377Val)
NM_015072.5(TTLL5):c.1138G>T (p.Asp380Tyr)
NM_015072.5(TTLL5):c.1213C>T (p.Arg405Trp)
NM_015072.5(TTLL5):c.1225C>T (p.Arg409Trp)
NM_015072.5(TTLL5):c.1231A>G (p.Ile411Val)
NM_015072.5(TTLL5):c.1241C>T (p.Thr414Ile) rs1034642536
NM_015072.5(TTLL5):c.1245T>A (p.Phe415Leu) rs1394272444
NM_015072.5(TTLL5):c.1258C>G (p.Arg420Gly) rs541400148
NM_015072.5(TTLL5):c.1265C>A (p.Pro422His)
NM_015072.5(TTLL5):c.1282-18_1282-17delinsAA
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.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.1372G>C (p.Val458Leu) rs1286182596
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.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.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.1520A>C (p.Tyr507Ser) rs201413053
NM_015072.5(TTLL5):c.1520A>G (p.Tyr507Cys) rs201413053
NM_015072.5(TTLL5):c.1550G>A (p.Arg517Lys) rs2140274721
NM_015072.5(TTLL5):c.1551-3T>C
NM_015072.5(TTLL5):c.1558G>A (p.Ala520Thr)
NM_015072.5(TTLL5):c.1585G>A (p.Glu529Lys)
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.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.1650G>A (p.Glu550=)
NM_015072.5(TTLL5):c.1665ACG[1] (p.Arg557del)
NM_015072.5(TTLL5):c.1666C>G (p.Arg556Gly) 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.1709-7T>A rs2359870
NM_015072.5(TTLL5):c.1709-8_1709-7inv
NM_015072.5(TTLL5):c.1721C>A (p.Pro574Gln) rs2140299148
NM_015072.5(TTLL5):c.1766A>G (p.Glu589Gly)
NM_015072.5(TTLL5):c.1790A>G (p.Asp597Gly)
NM_015072.5(TTLL5):c.1804G>A (p.Ala602Thr) rs752254666
NM_015072.5(TTLL5):c.181G>A (p.Glu61Lys) rs2140090695
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.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.1970C>T (p.Pro657Leu) rs1890967870
NM_015072.5(TTLL5):c.200A>G (p.Tyr67Cys)
NM_015072.5(TTLL5):c.2015G>A (p.Ser672Asn) rs748183829
NM_015072.5(TTLL5):c.2016-3T>C rs1566596891
NM_015072.5(TTLL5):c.2068C>T (p.Arg690Cys)
NM_015072.5(TTLL5):c.2100C>A (p.Phe700Leu)
NM_015072.5(TTLL5):c.2108G>A (p.Ser703Asn) rs1891340387
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.2215T>A (p.Leu739Met) rs774690827
NM_015072.5(TTLL5):c.224G>A (p.Arg75His) rs751047559
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.2316GAA[1] (p.Lys774del) rs2140319429
NM_015072.5(TTLL5):c.2334_2342del (p.Glu778_Glu780del) rs1251545673
NM_015072.5(TTLL5):c.2414C>A (p.Thr805Asn)
NM_015072.5(TTLL5):c.2420A>T (p.Tyr807Phe)
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.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.2591A>T (p.Asp864Val) rs1892120478
NM_015072.5(TTLL5):c.2630C>T (p.Ala877Val) rs766256432
NM_015072.5(TTLL5):c.264A>G (p.Glu88=)
NM_015072.5(TTLL5):c.265-3C>G
NM_015072.5(TTLL5):c.2657C>G (p.Ser886Cys)
NM_015072.5(TTLL5):c.2665A>C (p.Thr889Pro)
NM_015072.5(TTLL5):c.2665A>G (p.Thr889Ala) rs778408194
NM_015072.5(TTLL5):c.2690A>G (p.Asn897Ser) rs757665738
NM_015072.5(TTLL5):c.2711C>T (p.Thr904Ile) rs768247311
NM_015072.5(TTLL5):c.2738G>T (p.Cys913Phe) rs2140331433
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>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.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.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.2987-12C>G
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.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.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.3140C>T (p.Pro1047Leu)
NM_015072.5(TTLL5):c.3154A>C (p.Asn1052His)
NM_015072.5(TTLL5):c.3157CTC[1] (p.Leu1054del)
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.3239G>A (p.Arg1080Gln)
NM_015072.5(TTLL5):c.3245T>A (p.Ile1082Asn) rs1894739838
NM_015072.5(TTLL5):c.3253C>A (p.Pro1085Thr)
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.332G>A (p.Arg111His) rs151197710
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.3394G>A (p.Gly1132Arg)
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.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.349C>G (p.Gln117Glu) rs140479826
NM_015072.5(TTLL5):c.3505_3522del (p.Ser1169_Gln1174del) rs1390638454
NM_015072.5(TTLL5):c.3523G>T (p.Ala1175Ser)
NM_015072.5(TTLL5):c.3536G>A (p.Ser1179Asn)
NM_015072.5(TTLL5):c.3548C>G (p.Pro1183Arg)
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.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.365T>G (p.Phe122Cys)
NM_015072.5(TTLL5):c.3667G>A (p.Ala1223Thr) rs10130991
NM_015072.5(TTLL5):c.3688C>T (p.Pro1230Ser)
NM_015072.5(TTLL5):c.3706G>A (p.Val1236Met)
NM_015072.5(TTLL5):c.371G>A (p.Arg124Lys)
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.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.3824-2A>G rs1595333668
NM_015072.5(TTLL5):c.3824-3C>T rs2035054337
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.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.485A>T (p.Glu162Val) rs1026058794
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.503-13A>G rs1886082268
NM_015072.5(TTLL5):c.521G>C (p.Arg174Pro) rs141614130
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.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.595A>T (p.Ile199Phe) rs760333318
NM_015072.5(TTLL5):c.60G>T (p.Glu20Asp) rs2140074461
NM_015072.5(TTLL5):c.619G>A (p.Val207Ile)
NM_015072.5(TTLL5):c.626G>T (p.Arg209Leu) rs781617968
NM_015072.5(TTLL5):c.639C>A (p.Asn213Lys) rs769924591
NM_015072.5(TTLL5):c.649A>G (p.Ile217Val)
NM_015072.5(TTLL5):c.654T>C (p.Asp218=) rs953769070
NM_015072.5(TTLL5):c.663G>T (p.Lys221Asn)
NM_015072.5(TTLL5):c.670G>C (p.Val224Leu)
NM_015072.5(TTLL5):c.674G>A (p.Arg225His)
NM_015072.5(TTLL5):c.688G>A (p.Val230Met)
NM_015072.5(TTLL5):c.716A>G (p.Tyr239Cys)
NM_015072.5(TTLL5):c.721T>C (p.Tyr241His)
NM_015072.5(TTLL5):c.722A>G (p.Tyr241Cys)
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.842+4C>G rs1018754407
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.885C>A (p.Ser295Arg) rs1887726658
NM_015072.5(TTLL5):c.895A>G (p.Met299Val)
NM_015072.5(TTLL5):c.938T>G (p.Leu313Trp)
NM_015072.5(TTLL5):c.957C>A (p.Asp319Glu) rs765689042
NM_015072.5(TTLL5):c.968_973del (p.Lys323_Thr324del) rs926135196
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.9C>G (p.Ile3Met) 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.