ClinVar Miner

List of variants studied for biotinidase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 607
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911 0.00722
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_001370658.1(BTD):c.*211G>A rs78601074 0.00384
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524 0.00228
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799 0.00133
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_001370658.1(BTD):c.252T>C (p.Asp84=) rs138545268 0.00056
NM_001370658.1(BTD):c.825C>T (p.Asn275=) rs145379955 0.00050
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_001370658.1(BTD):c.411C>T (p.Arg137=) rs141240202 0.00041
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_001370658.1(BTD):c.430A>C (p.Arg144=) rs556096072 0.00023
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00020
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala) rs149690919 0.00017
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_001370658.1(BTD):c.-105C>T rs184480128 0.00015
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001370658.1(BTD):c.400-4C>T rs372355662 0.00013
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887 0.00012
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala) rs144901367 0.00012
NM_001370658.1(BTD):c.1362A>G (p.Glu454=) rs189789794 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1438C>T (p.Leu480=) rs150206202 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001370658.1(BTD):c.603C>T (p.Phe201=) rs142418812 0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018 0.00010
NM_001370658.1(BTD):c.645C>A (p.Pro215=) rs140769832 0.00010
NM_001370658.1(BTD):c.1047G>A (p.Pro349=) rs140890299 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_001370658.1(BTD):c.-65G>T rs199516128 0.00007
NM_001370658.1(BTD):c.1344C>T (p.Phe448=) rs781065270 0.00007
NM_001370658.1(BTD):c.1539G>A (p.Ala513=) rs745376296 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850 0.00006
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val) rs201852672 0.00006
NM_001370658.1(BTD):c.522C>T (p.Phe174=) rs750363004 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_001370658.1(BTD):c.1188C>T (p.His396=) rs372039874 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212 0.00005
NM_001370658.1(BTD):c.-38G>A rs138473616 0.00004
NM_001370658.1(BTD):c.-46T>C rs374044613 0.00004
NM_001370658.1(BTD):c.1014T>C (p.His338=) rs371365798 0.00004
NM_001370658.1(BTD):c.123C>T (p.Ala41=) rs747945967 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163 0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met) rs772369148 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979 0.00003
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400 0.00003
NM_001370658.1(BTD):c.1456C>T (p.Leu486=) rs774018881 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768 0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001370658.1(BTD):c.400-10T>G rs750494564 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001370658.1(BTD):c.72C>T (p.Thr24=) rs765550405 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys) rs753466926 0.00003
NM_001370658.1(BTD):c.-17+11G>A rs563797222 0.00002
NM_001370658.1(BTD):c.-87G>T rs755119589 0.00002
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn) rs769903360 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001370658.1(BTD):c.1311G>A (p.Val437=) rs753880468 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001370658.1(BTD):c.183G>A (p.Glu61=) rs753816877 0.00002
NM_001370658.1(BTD):c.288T>C (p.His96=) rs1261536776 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001370658.1(BTD):c.534C>T (p.Val178=) rs757159632 0.00002
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu) rs1003975438 0.00002
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys) rs768097543 0.00002
NM_001370658.1(BTD):c.723C>T (p.Tyr241=) rs372687866 0.00002
NM_001370658.1(BTD):c.741G>A (p.Val247=) rs552436982 0.00002
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser) rs144575084 0.00002
NM_001370658.1(BTD):c.852A>G (p.Pro284=) rs778024234 0.00002
NM_001370658.1(BTD):c.972C>T (p.Leu324=) rs117806438 0.00002
NM_001370658.1(BTD):c.*57T>A rs886058118 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.-17+7A>C rs1453269936 0.00001
NM_001370658.1(BTD):c.-22G>A rs781354864 0.00001
NM_001370658.1(BTD):c.-59T>A rs768258310 0.00001
NM_001370658.1(BTD):c.-74G>A rs200884349 0.00001
NM_001370658.1(BTD):c.1013A>G (p.His338Arg) rs1379845261 0.00001
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115 0.00001
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg) rs775369290 0.00001
NM_001370658.1(BTD):c.1092C>T (p.Thr364=) rs753278397 0.00001
NM_001370658.1(BTD):c.1101C>T (p.Asn367=) rs756863026 0.00001
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909 0.00001
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp) rs147188293 0.00001
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405 0.00001
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406 0.00001
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser) rs777799585 0.00001
NM_001370658.1(BTD):c.1161T>C (p.Pro387=) rs749528636 0.00001
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile) rs397514409 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1200T>C (p.Asn400=) rs2065658628 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1236C>A (p.Thr412=) rs1575030932 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) rs397514419 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217 0.00001
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val) rs1223614917 0.00001
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164 0.00001
NM_001370658.1(BTD):c.1377G>A (p.Thr459=) rs535292517 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101 0.00001
NM_001370658.1(BTD):c.1446A>G (p.Ser482=) rs1323842252 0.00001
NM_001370658.1(BTD):c.1470C>T (p.Asp490=) rs1301007653 0.00001
NM_001370658.1(BTD):c.1473G>C (p.Gln491His) rs764375610 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.249+15C>T rs760435212 0.00001
NM_001370658.1(BTD):c.249+1G>T rs373249212 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.255A>C (p.Val85=) rs369304137 0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu) rs372416959 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366 0.00001
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu) rs767750851 0.00001
NM_001370658.1(BTD):c.600A>G (p.Ala200=) rs757071809 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.669C>T (p.Phe223=) rs774761127 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.729G>A (p.Val243=) rs777470168 0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387 0.00001
NM_001370658.1(BTD):c.789G>A (p.Glu263=) rs2065643507 0.00001
NM_001370658.1(BTD):c.843C>A (p.Val281=) rs1344958210 0.00001
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057 0.00001
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu) rs1449860088 0.00001
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly) rs747059644 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001370658.1(BTD):c.944C>T (p.Ala315Val) rs1465883743 0.00001
NC_000003.11:g.(?_15512023)_(15687154_?)del
NC_000003.11:g.(?_15643358)_(15643421_?)del
NC_000003.11:g.(?_15643358)_(15643421_?)dup
NC_000003.11:g.(?_15643358)_(15683584_?)del
NC_000003.11:g.(?_15643358)_(15687154_?)dup
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.12:g.(?_15601831)_(15601914_?)del
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-16-19T>C
NM_001370658.1(BTD):c.-16-2A>G
NM_001370658.1(BTD):c.-16-5T>C
NM_001370658.1(BTD):c.-16-7A>G
NM_001370658.1(BTD):c.-16-7A>T
NM_001370658.1(BTD):c.-16-7del
NM_001370658.1(BTD):c.-17+12_-17+27dup
NM_001370658.1(BTD):c.-17+13C>G
NM_001370658.1(BTD):c.-17+16G>A
NM_001370658.1(BTD):c.-17+16G>C
NM_001370658.1(BTD):c.-17+19_-17+39del rs1559571027
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.-17+1G>C rs1057516440
NM_001370658.1(BTD):c.-17+1G>T rs1057516440
NM_001370658.1(BTD):c.-17+1del rs1057517114
NM_001370658.1(BTD):c.-17+20C>A
NM_001370658.1(BTD):c.-17+20_-17+40dup
NM_001370658.1(BTD):c.-17+23_-17+27dup rs775790954
NM_001370658.1(BTD):c.-17+7A>G
NM_001370658.1(BTD):c.-17+7A>T
NM_001370658.1(BTD):c.-17+8G>C
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>G
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-18del rs2064260290
NM_001370658.1(BTD):c.-1T>C
NM_001370658.1(BTD):c.-24A>T
NM_001370658.1(BTD):c.-28C>T rs2125312689
NM_001370658.1(BTD):c.-45A>T rs540641302
NM_001370658.1(BTD):c.-51G>T
NM_001370658.1(BTD):c.-58G>A rs1553646827
NM_001370658.1(BTD):c.-59T>C rs768258310
NM_001370658.1(BTD):c.-60A>G rs1553646820
NM_001370658.1(BTD):c.-6del
NM_001370658.1(BTD):c.1000del (p.Thr334fs)
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val) rs1204990361
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1026A>G (p.Leu342=) rs1367244547
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
NM_001370658.1(BTD):c.1035G>A (p.Leu345=) rs768786956
NM_001370658.1(BTD):c.1038A>C (p.Ser346=)
NM_001370658.1(BTD):c.1041C>A (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1047G>T (p.Pro349=)
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1068G>A (p.Gln356=) rs891263072
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) rs1057516252
NM_001370658.1(BTD):c.1076A>G (p.His359Arg) rs763540316
NM_001370658.1(BTD):c.1077C>T (p.His359=)
NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)
NM_001370658.1(BTD):c.1086G>A (p.Glu362=) rs1559600186
NM_001370658.1(BTD):c.1092C>A (p.Thr364=) rs753278397
NM_001370658.1(BTD):c.1092dup (p.Lys365fs)
NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter) rs397514401
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
NM_001370658.1(BTD):c.1103dup (p.Asn369fs) rs2125504069
NM_001370658.1(BTD):c.1104G>T (p.Val368=) rs750109648
NM_001370658.1(BTD):c.1110T>C (p.Ala370=) rs1473669802
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs) rs1057517256
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del) rs2065654912
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) rs397514339
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu) rs1295528438
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)
NM_001370658.1(BTD):c.1143C>T (p.Asp381=) rs2125504297
NM_001370658.1(BTD):c.114T>C (p.Tyr38=) rs2125453888
NM_001370658.1(BTD):c.1158C>A (p.Val386=) rs956882463
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001370658.1(BTD):c.1164C>G (p.Val388=)
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1170A>C (p.Gly390=) rs975896326
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=) rs368320941
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu) rs2125504798
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
NM_001370658.1(BTD):c.1203C>T (p.Gly401=) rs2125504914
NM_001370658.1(BTD):c.1204dup (p.Leu402fs) rs397514411
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro) rs2125504955
NM_001370658.1(BTD):c.1207del (p.Cys403fs)
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala) rs2125505114
NM_001370658.1(BTD):c.1236C>T (p.Thr412=) rs1575030932
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1248G>A (p.Glu416=) rs1208591351
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1251G>C (p.Leu417=) rs771116095
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) rs1575031012
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile) rs776369447
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly) rs2065662435
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1275G>T (p.Gly425=) rs2065662696
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1280A>G (p.His427Arg)
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala) rs2065663213
NM_001370658.1(BTD):c.1289A>C (p.His430Pro) rs559136372
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser) rs2125505641
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter) rs1553654145
NM_001370658.1(BTD):c.129T>C (p.Tyr43=) rs2125453999
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
NM_001370658.1(BTD):c.1309G>A (p.Val437Met) rs146600671
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1312dup (p.Cys438fs) rs587783007
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys) rs2125505856
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1334del (p.Gly445fs)
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.1341C>A (p.Gly447=)
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1396C>T (p.Leu466=) rs2125506331
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs) rs1553654178
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter) rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1404C>A (p.Gly468=)
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) rs796051941
NM_001370658.1(BTD):c.1419C>G (p.Ser473=) rs1269007233
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
NM_001370658.1(BTD):c.143_146dup (p.Ser50fs)
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile) rs774018881
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys) rs199859507
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1515G>A (p.Arg505=) rs2125507062
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
NM_001370658.1(BTD):c.1527G>A (p.Gly509=) rs1388523400
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val) rs1210441433
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe) rs771537277
NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu) rs397514429
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001370658.1(BTD):c.167del (p.Leu56fs)
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro) rs2065326975
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del) rs397514346
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.195C>T (p.Leu65=) rs2125454784
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) rs151071780
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.204G>A (p.Gln68=) rs781457122
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
NM_001370658.1(BTD):c.225G>A (p.Gln75=) rs1423985186
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.249+19A>C
NM_001370658.1(BTD):c.249+1G>A rs373249212
NM_001370658.1(BTD):c.249+5G>T rs2065329555
NM_001370658.1(BTD):c.250-15T>C
NM_001370658.1(BTD):c.250-16A>T
NM_001370658.1(BTD):c.250-18T>C
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
NM_001370658.1(BTD):c.253_254dup (p.Gln86fs)
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.267G>T (p.Val89=) rs2125485561
NM_001370658.1(BTD):c.270del (p.Pro91fs)
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala) rs1553653070
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) rs397514352
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.279T>C (p.Asp93=)
NM_001370658.1(BTD):c.282del (p.Ile95fs) rs2065521862
NM_001370658.1(BTD):c.286C>T (p.His96Tyr) rs776422082
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.339G>T (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
NM_001370658.1(BTD):c.345C>T (p.Pro115=) rs767937184
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
NM_001370658.1(BTD):c.357G>A (p.Arg119=) rs2125486415
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter) rs2125486425
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly) rs137877018
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
NM_001370658.1(BTD):c.38_44del (p.Cys13fs)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.399+10G>A
NM_001370658.1(BTD):c.399+19C>T
NM_001370658.1(BTD):c.399+2T>G
NM_001370658.1(BTD):c.399+6dup
NM_001370658.1(BTD):c.399+8C>T
NM_001370658.1(BTD):c.399+8del rs2125487004
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.400-16C>T
NM_001370658.1(BTD):c.400-18C>T
NM_001370658.1(BTD):c.400-6C>T rs2125499988
NM_001370658.1(BTD):c.400-7C>T
NM_001370658.1(BTD):c.400-8T>C rs758512428
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.402G>A (p.Val134=) rs1003151133
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001370658.1(BTD):c.417T>C (p.Ser139=) rs2125500181
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
NM_001370658.1(BTD):c.424G>C (p.Ala142Pro) rs2125500236
NM_001370658.1(BTD):c.429C>T (p.Ile143=) rs2065628963
NM_001370658.1(BTD):c.430_431del (p.Arg144fs) rs397514365
NM_001370658.1(BTD):c.430del (p.Arg144fs)
NM_001370658.1(BTD):c.435A>T (p.Gly145=) rs2125500346
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu) rs184742694
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer) rs2125500515
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg) rs955385869
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp) rs2125500615
NM_001370658.1(BTD):c.500del (p.Pro167fs) rs2125500629
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly) rs139829181
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter) rs766476582
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.525C>T (p.Asn175=) rs2125500784
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del) rs1575029290
NM_001370658.1(BTD):c.52del (p.Val18fs)
NM_001370658.1(BTD):c.534C>G (p.Val178=) rs757159632
NM_001370658.1(BTD):c.534_536del (p.Val179del) rs397514373
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del) rs1553653699
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs) rs2125453296
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter) rs2065635815
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
NM_001370658.1(BTD):c.58_59del (p.Leu20fs) rs1553652080
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
NM_001370658.1(BTD):c.604G>C (p.Asp202His) rs200337373
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) rs587783004
NM_001370658.1(BTD):c.624T>C (p.Asp208=)
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)
NM_001370658.1(BTD):c.672A>G (p.Thr224=) rs777224767
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.683dup (p.Leu229fs)
NM_001370658.1(BTD):c.686del (p.Leu229fs)
NM_001370658.1(BTD):c.687G>A (p.Leu229=) rs2125501752
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.70_71del (p.Thr24fs)
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.711C>T (p.Val237=)
NM_001370658.1(BTD):c.714C>T (p.Leu238=) rs2125501926
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
NM_001370658.1(BTD):c.721_723del (p.Tyr241del) rs1553653835
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter) rs2125502078
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.762C>T (p.Asn254=) rs2065642615
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter) rs397514336
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe) rs549204682
NM_001370658.1(BTD):c.795G>C (p.Gln265His) rs1553653855
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_001370658.1(BTD):c.799del (p.Ala267fs)
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) rs397514334
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser) rs762757117
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001370658.1(BTD):c.81G>A (p.Glu27=) rs530566306
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.836C>T (p.Ala279Val) rs397514392
NM_001370658.1(BTD):c.838A>C (p.Asn280His) rs587783006
NM_001370658.1(BTD):c.844C>T (p.His282Tyr) rs398123142
NM_001370658.1(BTD):c.846C>G (p.His282Gln) rs2125502649
NM_001370658.1(BTD):c.846C>T (p.His282=)
NM_001370658.1(BTD):c.84C>T (p.Ser28=)
NM_001370658.1(BTD):c.855T>G (p.Val285=) rs2125502708
NM_001370658.1(BTD):c.858G>T (p.Leu286=)
NM_001370658.1(BTD):c.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.867A>G (p.Thr289=)
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) rs397514393
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) rs1553653894
NM_001370658.1(BTD):c.887del (p.Pro296fs)
NM_001370658.1(BTD):c.894G>A (p.Glu298=) rs2125502955
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
NM_001370658.1(BTD):c.901dup (p.Trp301fs)
NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter)
NM_001370658.1(BTD):c.91_92del (p.Asp31fs)
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn) rs397514433
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
NM_001370658.1(BTD):c.950del (p.Val317fs) rs2125503248
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
NM_001370658.1(BTD):c.963A>T (p.Pro321=) rs1313683563
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
NM_001370658.1(BTD):c.96T>C (p.His32=)
NM_001370658.1(BTD):c.975T>C (p.Ile325=)
NM_001370658.1(BTD):c.978T>G (p.Gly326=) rs2125503475
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001370658.1(BTD):c.99C>T (p.His33=) rs397514337
NM_152649.4(MLKL):c.565C>T (p.Pro189Ser)

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.