ClinVar Miner

List of variants in gene DBT studied for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 726
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001918.5(DBT):c.*6902T>A rs200943386 0.79813
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_001918.5(DBT):c.1150= (p.Ser384=) rs12021720 0.12900
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_001918.5(DBT):c.*8977T>C rs113536022 0.02409
NM_001918.5(DBT):c.*8983dup rs67820832 0.02408
NM_001918.5(DBT):c.*4872A>G rs12044663 0.02047
NM_001918.5(DBT):c.*470G>A rs148424011 0.01941
NM_001918.5(DBT):c.*8607G>A rs150241889 0.01296
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001918.5(DBT):c.*8552A>T rs543411196 0.00862
NM_001918.5(DBT):c.*6901T>A rs200062717 0.00778
NM_001918.5(DBT):c.*7358C>T rs143822588 0.00725
NM_001918.5(DBT):c.*8944A>G rs77587629 0.00713
NM_001918.5(DBT):c.*4094C>A rs74825164 0.00603
NM_001918.5(DBT):c.1282-13_1282-9del rs761681999 0.00456
NM_001918.5(DBT):c.*3652G>C rs755229964 0.00400
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_001918.5(DBT):c.*2810A>G rs116578353 0.00337
NM_001918.5(DBT):c.*5347C>T rs116806523 0.00337
NM_001918.5(DBT):c.*4124C>A rs139169068 0.00327
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_001918.5(DBT):c.*5328C>G rs150770445 0.00175
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_001918.5(DBT):c.*594A>G rs147781191 0.00150
NM_001918.5(DBT):c.*3461A>G rs532058526 0.00125
NM_001918.5(DBT):c.*8083C>T rs190798710 0.00103
NM_001918.5(DBT):c.*8663T>C rs576300118 0.00103
NM_001918.5(DBT):c.*1917C>A rs886044957 0.00096
NM_001918.5(DBT):c.*2074A>C rs536515775 0.00092
NM_001918.5(DBT):c.*3521G>A rs754461561 0.00083
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_001918.5(DBT):c.*4273C>A rs12568926 0.00074
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00064
NM_001918.5(DBT):c.*5969C>T rs141483625 0.00055
NM_001918.5(DBT):c.*7307G>C rs182980145 0.00051
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_001918.5(DBT):c.*9105A>G rs574151688 0.00047
NM_001918.5(DBT):c.*1332T>C rs191584096 0.00044
NM_001918.5(DBT):c.*6716C>G rs529415312 0.00033
NM_001918.5(DBT):c.*4291C>A rs1256627350 0.00032
NM_001918.5(DBT):c.*9123A>G rs79752201 0.00029
NM_001918.5(DBT):c.*1322C>T rs941752024 0.00026
NM_001918.5(DBT):c.*347C>T rs372982170 0.00026
NM_001918.5(DBT):c.*4507T>C rs762813875 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_001918.5(DBT):c.*5877G>C rs562874757 0.00024
NM_001918.5(DBT):c.*7698C>T rs185528579 0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_001918.5(DBT):c.964T>C (p.Phe322Leu) rs148571335 0.00022
NM_001918.5(DBT):c.*2092A>T rs1055914530 0.00021
NM_001918.5(DBT):c.*5875T>G rs761370134 0.00021
NM_001918.5(DBT):c.*4250C>T rs774122510 0.00020
NM_001918.5(DBT):c.1210-9_1210-8insT rs201755806 0.00020
NM_001918.5(DBT):c.*9153_*9156del rs780877675 0.00017
NM_001918.5(DBT):c.*295G>A rs556913110 0.00015
NM_001918.5(DBT):c.*918G>T rs555064255 0.00015
NM_001918.5(DBT):c.*8275A>G rs189649370 0.00014
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_001918.5(DBT):c.*4377C>G rs886044946 0.00012
NM_001918.5(DBT):c.*722C>T rs886044960 0.00012
NM_001918.5(DBT):c.*2088A>T rs771850946 0.00011
NM_001918.5(DBT):c.318T>G (p.Ala106=) rs146259768 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001918.5(DBT):c.*2851C>T rs1023974357 0.00010
NM_001918.5(DBT):c.*3336_*3338dup rs886044950 0.00009
NM_001918.5(DBT):c.*3789A>C rs757800211 0.00009
NM_001918.5(DBT):c.*4313G>A rs187287215 0.00009
NM_001918.5(DBT):c.*8118T>C rs758082965 0.00009
NM_001918.5(DBT):c.*8670A>G rs959425245 0.00009
NM_001918.5(DBT):c.*9228C>T rs1009840621 0.00009
NM_001918.5(DBT):c.556-7T>C rs755448648 0.00009
NM_001918.5(DBT):c.*3245G>A rs1266134285 0.00008
NM_001918.5(DBT):c.*8074G>A rs550751216 0.00007
NM_001918.5(DBT):c.*1747A>G rs886044958 0.00006
NM_001918.5(DBT):c.*3455C>T rs886044949 0.00006
NM_001918.5(DBT):c.*551C>T rs756147809 0.00006
NM_001918.5(DBT):c.*5784T>C rs187688215 0.00006
NM_001918.5(DBT):c.*8734A>C rs564195699 0.00006
NM_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
NM_001918.5(DBT):c.733C>A (p.Pro245Thr) rs200339376 0.00006
NM_001918.5(DBT):c.90T>C (p.His30=) rs377306925 0.00006
NM_001918.5(DBT):c.9A>G (p.Ala3=) rs772869478 0.00006
NM_001918.5(DBT):c.*4864C>T rs920810590 0.00005
NM_001918.5(DBT):c.*9230T>C rs893701906 0.00005
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr) rs777868718 0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_001918.5(DBT):c.572T>G (p.Val191Gly) rs146894954 0.00005
NM_001918.5(DBT):c.*293C>T rs1017324148 0.00004
NM_001918.5(DBT):c.*3586A>G rs541279304 0.00004
NM_001918.5(DBT):c.*8080C>G rs1018443361 0.00004
NM_001918.5(DBT):c.*8226G>T rs560160662 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln) rs142160613 0.00004
NM_001918.5(DBT):c.1143C>G (p.Gly381=) rs1052326198 0.00004
NM_001918.5(DBT):c.1210-10_1210-9del rs794726986 0.00004
NM_001918.5(DBT):c.27C>G (p.Thr9=) rs371418997 0.00004
NM_001918.5(DBT):c.536G>A (p.Arg179His) rs766629953 0.00004
NM_001918.5(DBT):c.562C>T (p.Leu188=) rs370323452 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_001918.5(DBT):c.773-17A>C rs144978854 0.00004
NM_001918.5(DBT):c.978C>T (p.Asn326=) rs140659494 0.00004
NM_001918.5(DBT):c.*2271A>C rs768839953 0.00003
NM_001918.5(DBT):c.*488G>A rs778739081 0.00003
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_001918.5(DBT):c.*3187C>G rs886044952 0.00002
NM_001918.5(DBT):c.*642T>C rs1055527758 0.00002
NM_001918.5(DBT):c.*8073C>T rs886044941 0.00002
NM_001918.5(DBT):c.1017+9T>C rs773457541 0.00002
NM_001918.5(DBT):c.1210-11_1210-9del rs1557944011 0.00002
NM_001918.5(DBT):c.1269T>C (p.Leu423=) rs760929997 0.00002
NM_001918.5(DBT):c.15T>C (p.Arg5=) rs773817425 0.00002
NM_001918.5(DBT):c.175+9G>A rs779334816 0.00002
NM_001918.5(DBT):c.176-10del rs745672858 0.00002
NM_001918.5(DBT):c.176-15C>A rs762049483 0.00002
NM_001918.5(DBT):c.1A>G (p.Met1Val) rs759312184 0.00002
NM_001918.5(DBT):c.34A>G (p.Arg12Gly) rs1215222732 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_001918.5(DBT):c.434-5A>C rs374530437 0.00002
NM_001918.5(DBT):c.62G>A (p.Arg21His) rs533707792 0.00002
NM_001918.3(DBT):c.-40T>A rs1314975626 0.00001
NM_001918.5(DBT):c.*1572A>G rs1424615850 0.00001
NM_001918.5(DBT):c.*2119G>A rs928405900 0.00001
NM_001918.5(DBT):c.*2822T>G rs747199821 0.00001
NM_001918.5(DBT):c.*3135G>A rs886044953 0.00001
NM_001918.5(DBT):c.*358A>C rs1553228540 0.00001
NM_001918.5(DBT):c.*4425C>A rs1030557885 0.00001
NM_001918.5(DBT):c.*5591T>C rs749879959 0.00001
NM_001918.5(DBT):c.*5638C>T rs886044944 0.00001
NM_001918.5(DBT):c.*6270A>G rs1435365769 0.00001
NM_001918.5(DBT):c.*635C>T rs886044962 0.00001
NM_001918.5(DBT):c.*7187G>A rs886044942 0.00001
NM_001918.5(DBT):c.*7369G>A rs893354618 0.00001
NM_001918.5(DBT):c.*8385A>C rs886044940 0.00001
NM_001918.5(DBT):c.*8830T>C rs1660613432 0.00001
NM_001918.5(DBT):c.1017+8A>G rs541924732 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1018-10T>A rs1328647470 0.00001
NM_001918.5(DBT):c.1036A>G (p.Ile346Val) rs1302449788 0.00001
NM_001918.5(DBT):c.1110C>T (p.Ile370=) rs771962372 0.00001
NM_001918.5(DBT):c.1138T>C (p.Leu380=) rs756606257 0.00001
NM_001918.5(DBT):c.1158C>T (p.Leu386=) rs139943180 0.00001
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe) rs1339599491 0.00001
NM_001918.5(DBT):c.1173T>G (p.Leu391=) rs763246178 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1210-18_1210-9del rs780660910 0.00001
NM_001918.5(DBT):c.1217G>T (p.Gly406Val) rs767154711 0.00001
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp) rs796051945 0.00001
NM_001918.5(DBT):c.1281+1G>T rs1557943881 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1320G>A (p.Lys440=) rs1243840387 0.00001
NM_001918.5(DBT):c.1350T>G (p.Ala450=) rs149959750 0.00001
NM_001918.5(DBT):c.1371T>C (p.Gly457=) rs1188716932 0.00001
NM_001918.5(DBT):c.1384C>T (p.Arg462Cys) rs765257706 0.00001
NM_001918.5(DBT):c.1385G>A (p.Arg462His) rs750594890 0.00001
NM_001918.5(DBT):c.1392C>T (p.Ser464=) rs765967170 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.176-4G>A rs769021966 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.231A>G (p.Arg77=) rs1028461413 0.00001
NM_001918.5(DBT):c.270T>C (p.Asp90=) rs913574975 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.378C>T (p.Asp126=) rs1410915223 0.00001
NM_001918.5(DBT):c.387C>T (p.Ala129=) rs200503541 0.00001
NM_001918.5(DBT):c.420G>A (p.Thr140=) rs771792232 0.00001
NM_001918.5(DBT):c.42G>A (p.Ala14=) rs758610837 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.495G>A (p.Glu165=) rs1481747202 0.00001
NM_001918.5(DBT):c.52-1G>A rs755914063 0.00001
NM_001918.5(DBT):c.52-5del rs1234151678 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys) rs398123673 0.00001
NM_001918.5(DBT):c.624T>C (p.Tyr208=) rs752504160 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001918.5(DBT):c.765C>T (p.Pro255=) rs767126022 0.00001
NM_001918.5(DBT):c.772+7A>T rs904010521 0.00001
NM_001918.5(DBT):c.781A>G (p.Lys261Glu) rs926492799 0.00001
NM_001918.5(DBT):c.815A>G (p.Lys272Arg) rs1662393960 0.00001
NM_001918.5(DBT):c.836G>T (p.Cys279Phe) rs1662392597 0.00001
NM_001918.5(DBT):c.837T>C (p.Cys279=) rs1662392437 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.884A>G (p.Lys295Arg) rs139216072 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_001918.5(DBT):c.939+9C>T rs779947502 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NC_000001.10:g.(?_100652477)_(100661979_100671785)del
NC_000001.10:g.(?_100661811)_(100661998_?)del
NC_000001.10:g.(?_100661892)_(100681288_?)del
NC_000001.10:g.(?_100671776)_(100672202_?)del
NC_000001.10:g.(?_100680363)_(100684318_?)del
NC_000001.10:g.(?_100715306)_(100715376_?)del
NC_000001.11:g.(?_100196235)_(100196442_?)del
NC_000001.11:g.(?_100214807)_(100230924_?)del
NC_000001.11:g.(?_100218757)_(100221872_?)del
NC_000001.11:g.(?_100240741)_(100240904_?)del
NC_000001.11:g.(?_100240751)_(100240894_?)del
NC_000001.11:g.100196336_100215732del
NM_001918.3(DBT):c.1282-4142_*(434_435)del
NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA
NM_001918.3:c.48_171del
NM_001918.5(DBT):c.*1064del rs553113077
NM_001918.5(DBT):c.*1064dup rs553113077
NM_001918.5(DBT):c.*1640C>T rs1660988947
NM_001918.5(DBT):c.*2021C>T rs1660952850
NM_001918.5(DBT):c.*2114T>C rs886044956
NM_001918.5(DBT):c.*2130G>A rs1394399367
NM_001918.5(DBT):c.*2213T>C rs1660939902
NM_001918.5(DBT):c.*2363G>T rs886044955
NM_001918.5(DBT):c.*2542del rs570425342
NM_001918.5(DBT):c.*2619G>A rs541064624
NM_001918.5(DBT):c.*2633AAAT[5] rs773873766
NM_001918.5(DBT):c.*2633AAAT[7] rs773873766
NM_001918.5(DBT):c.*3022G>A rs1660889107
NM_001918.5(DBT):c.*3027A>G rs886044954
NM_001918.5(DBT):c.*3201G>A rs886044951
NM_001918.5(DBT):c.*3240T>A rs1660880039
NM_001918.5(DBT):c.*3693C>G rs1660860600
NM_001918.5(DBT):c.*3859T>C rs1570793211
NM_001918.5(DBT):c.*3869del rs141830881
NM_001918.5(DBT):c.*3995G>T rs988697898
NM_001918.5(DBT):c.*4237A>C rs1660837776
NM_001918.5(DBT):c.*4281del rs886044948
NM_001918.5(DBT):c.*4321G>T rs886044947
NM_001918.5(DBT):c.*4446C>G rs752398323
NM_001918.5(DBT):c.*456C>G rs886044963
NM_001918.5(DBT):c.*4576G>A rs531886164
NM_001918.5(DBT):c.*4576G>C rs531886164
NM_001918.5(DBT):c.*4688G>T rs573460625
NM_001918.5(DBT):c.*5380G>C rs1660776922
NM_001918.5(DBT):c.*5561A>G rs886044945
NM_001918.5(DBT):c.*5959A>G rs567706972
NM_001918.5(DBT):c.*6114_*6115del rs3081711
NM_001918.5(DBT):c.*6413C>T rs1660732127
NM_001918.5(DBT):c.*64A>G rs1661077106
NM_001918.5(DBT):c.*6771A>C rs986607367
NM_001918.5(DBT):c.*6771A>G rs986607367
NM_001918.5(DBT):c.*678TTAA[1] rs886044961
NM_001918.5(DBT):c.*6903del rs71709231
NM_001918.5(DBT):c.*7223C>T rs1660695055
NM_001918.5(DBT):c.*7690T>C rs535852086
NM_001918.5(DBT):c.*7942G>A rs1660663776
NM_001918.5(DBT):c.*8471T>C rs1660634228
NM_001918.5(DBT):c.*8552_*8553insT rs886044939
NM_001918.5(DBT):c.*8554dup rs886044938
NM_001918.5(DBT):c.*8642C>G rs886044937
NM_001918.5(DBT):c.*8900A>T rs886044936
NM_001918.5(DBT):c.*9058C>T rs886044935
NM_001918.5(DBT):c.1002G>T (p.Gln334His)
NM_001918.5(DBT):c.1014T>C (p.Tyr338=)
NM_001918.5(DBT):c.1017+10G>A
NM_001918.5(DBT):c.1017+11C>G
NM_001918.5(DBT):c.1017+15G>A
NM_001918.5(DBT):c.1017+16T>A
NM_001918.5(DBT):c.1017+1G>A
NM_001918.5(DBT):c.1017+1G>T
NM_001918.5(DBT):c.1017+1del rs796052134
NM_001918.5(DBT):c.1018-10dup rs1287581664
NM_001918.5(DBT):c.1018-15T>C
NM_001918.5(DBT):c.1018-16A>T
NM_001918.5(DBT):c.1018-17A>G
NM_001918.5(DBT):c.1018-2A>T
NM_001918.5(DBT):c.1018-3del rs2100780335
NM_001918.5(DBT):c.1018-4T>C
NM_001918.5(DBT):c.1018-7T>G rs2100780347
NM_001918.5(DBT):c.1018-9A>G rs2100780356
NM_001918.5(DBT):c.1018-9del rs2100780359
NM_001918.5(DBT):c.1032T>C (p.Ile344=)
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) rs869312132
NM_001918.5(DBT):c.1056G>A (p.Gln352=) rs2100780252
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser) rs1296308942
NM_001918.5(DBT):c.1065T>A (p.Ile355=)
NM_001918.5(DBT):c.1068C>T (p.Val356=)
NM_001918.5(DBT):c.1077G>A (p.Val359=)
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.1089G>A (p.Gln363=) rs2100780197
NM_001918.5(DBT):c.1098T>G (p.Ser366=) rs1422504862
NM_001918.5(DBT):c.1107C>T (p.Asp369=) rs2100780132
NM_001918.5(DBT):c.1116T>C (p.Thr372=)
NM_001918.5(DBT):c.111_114del (p.Cys38fs)
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1131C>T (p.Leu377=) rs1661802261
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)
NM_001918.5(DBT):c.113_114del (p.Cys38fs) rs2100844690
NM_001918.5(DBT):c.1140G>A (p.Leu380=) rs2100780071
NM_001918.5(DBT):c.1152T>C (p.Ser384=) rs2100780004
NM_001918.5(DBT):c.1158C>G (p.Leu386=) rs139943180
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer) rs1553229661
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu) rs1661798658
NM_001918.5(DBT):c.1173T>C (p.Leu391=)
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) rs1661797765
NM_001918.5(DBT):c.1185A>T (p.Thr395=)
NM_001918.5(DBT):c.1190C>T (p.Thr397Ile) rs1570806466
NM_001918.5(DBT):c.1191T>A (p.Thr397=) rs2100779891
NM_001918.5(DBT):c.1191T>C (p.Thr397=) rs2100779891
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1195del (p.Ser399fs) rs2100779888
NM_001918.5(DBT):c.1196C>G (p.Ser399Cys) rs2100779875
NM_001918.5(DBT):c.1199A>G (p.Asn400Ser)
NM_001918.5(DBT):c.1200C>T (p.Asn400=)
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter) rs1661796496
NM_001918.5(DBT):c.1209+1G>A rs1661795778
NM_001918.5(DBT):c.1209+9T>C
NM_001918.5(DBT):c.1209+9_1209+10dup
NM_001918.5(DBT):c.120T>C (p.Phe40=)
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1210-11_1210-10inv
NM_001918.5(DBT):c.1210-12T>A
NM_001918.5(DBT):c.1210-12T>G
NM_001918.5(DBT):c.1210-1G>C
NM_001918.5(DBT):c.1210-3T>A
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1210-4dup rs201117345
NM_001918.5(DBT):c.1210-8_1210-7insT
NM_001918.5(DBT):c.1210-9_1210-8insTT
NM_001918.5(DBT):c.1210-9_1210-8inv
NM_001918.5(DBT):c.1212T>C (p.Ile404=)
NM_001918.5(DBT):c.1212T>G (p.Ile404Met) rs2100779467
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu) rs2100779419
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
NM_001918.5(DBT):c.123T>C (p.Gly41=) rs2100844658
NM_001918.5(DBT):c.1240del (p.Met414fs)
NM_001918.5(DBT):c.1245A>G (p.Pro415=)
NM_001918.5(DBT):c.1248T>C (p.Pro416=) rs2100779369
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
NM_001918.5(DBT):c.1264dup (p.Ala422fs) rs1401829291
NM_001918.5(DBT):c.126T>A (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1274C>A (p.Ser425Ter)
NM_001918.5(DBT):c.1274C>G (p.Ser425Ter)
NM_001918.5(DBT):c.1275A>G (p.Ser425=) rs1570806049
NM_001918.5(DBT):c.1276A>G (p.Ile426Val) rs1471693880
NM_001918.5(DBT):c.1281+10T>C rs2100779244
NM_001918.5(DBT):c.1281+13G>A
NM_001918.5(DBT):c.1281+18C>T
NM_001918.5(DBT):c.1281+1G>C rs1557943881
NM_001918.5(DBT):c.1281+2T>A rs2100779270
NM_001918.5(DBT):c.1281+3A>G
NM_001918.5(DBT):c.1281+8_1281+20del
NM_001918.5(DBT):c.1281+9A>G
NM_001918.5(DBT):c.1282-10_1282-9dup
NM_001918.5(DBT):c.1282-11_1282-9del
NM_001918.5(DBT):c.1282-12_1282-9del rs1557939390
NM_001918.5(DBT):c.1282-13T>A rs1374973220
NM_001918.5(DBT):c.1282-13T>C
NM_001918.5(DBT):c.1282-14T>A rs1315625069
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.1282-14_1282-9del rs760164623
NM_001918.5(DBT):c.1282-15T>A rs763988935
NM_001918.5(DBT):c.1282-15_1282-9del rs1557939402
NM_001918.5(DBT):c.1282-16T>A
NM_001918.5(DBT):c.1282-16T>C
NM_001918.5(DBT):c.1282-16_1282-9del
NM_001918.5(DBT):c.1282-18T>C
NM_001918.5(DBT):c.1282-18_1282-10del rs752915898
NM_001918.5(DBT):c.1282-19T>C
NM_001918.5(DBT):c.1282-19_1282-10del rs752915898
NM_001918.5(DBT):c.1282-20T>C
NM_001918.5(DBT):c.1282-20_1282-10del rs752915898
NM_001918.5(DBT):c.1282-21_1282-10del rs752915898
NM_001918.5(DBT):c.1282-21_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-22_1282-10del
NM_001918.5(DBT):c.1282-23_1282-10del rs752915898
NM_001918.5(DBT):c.1282-24_1282-10del rs752915898
NM_001918.5(DBT):c.1282-24_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-25_1282-10del rs752915898
NM_001918.5(DBT):c.1282-26_1282-10del rs752915898
NM_001918.5(DBT):c.1282-4C>A rs1410431336
NM_001918.5(DBT):c.1282-4C>T rs1410431336
NM_001918.5(DBT):c.1282-5_1282-1del rs1557939353
NM_001918.5(DBT):c.1282-5_1282-2del rs1553228653
NM_001918.5(DBT):c.1282-7T>C
NM_001918.5(DBT):c.1282-8A>G rs764781766
NM_001918.5(DBT):c.1282-9C>A rs1404199687
NM_001918.5(DBT):c.1282-9dup
NM_001918.5(DBT):c.1283C>T (p.Ala428Val) rs2100761237
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro) rs776490043
NM_001918.5(DBT):c.129T>G (p.Pro43=)
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888
NM_001918.5(DBT):c.1314A>G (p.Val438=)
NM_001918.5(DBT):c.1317T>C (p.Tyr439=) rs2100761130
NM_001918.5(DBT):c.131C>G (p.Ser44Ter)
NM_001918.5(DBT):c.1324C>T (p.Gln442Ter) rs1276927916
NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer) rs2100761028
NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)
NM_001918.5(DBT):c.1347A>G (p.Ser449=)
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr) rs398123661
NM_001918.5(DBT):c.1355A>G (p.His452Arg) rs121965002
NM_001918.5(DBT):c.1364T>C (p.Ile455Thr) rs1570796358
NM_001918.5(DBT):c.136_137insTGACTATACTTCATTCA (p.Lys46fs)
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
NM_001918.5(DBT):c.137A>G (p.Lys46Arg) rs794727263
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.1383A>C (p.Ser461=) rs2100760925
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) rs750594890
NM_001918.5(DBT):c.1385del (p.Arg462fs)
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_001918.5(DBT):c.138G>A (p.Lys46=)
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
NM_001918.5(DBT):c.1398G>A (p.Leu466=) rs1661085210
NM_001918.5(DBT):c.1407C>G (p.Ser469=) rs2100760846
NM_001918.5(DBT):c.1410T>C (p.Tyr470=) rs2100760833
NM_001918.5(DBT):c.1419C>T (p.Asn473=)
NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer) rs1553233152
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
NM_001918.5(DBT):c.1448G>T (p.Ter483Leu) rs121965000
NM_001918.5(DBT):c.14G>A (p.Arg5His)
NM_001918.5(DBT):c.159C>T (p.Phe53=) rs772209054
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.16A>G (p.Met6Val)
NM_001918.5(DBT):c.175+10A>G
NM_001918.5(DBT):c.175+16A>G
NM_001918.5(DBT):c.175+1G>A rs2100844517
NM_001918.5(DBT):c.175+7A>T
NM_001918.5(DBT):c.176-15C>G
NM_001918.5(DBT):c.176-15C>T
NM_001918.5(DBT):c.176-1G>A
NM_001918.5(DBT):c.17dup (p.Met6fs) rs2100772715
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
NM_001918.5(DBT):c.182G>A (p.Arg61His)
NM_001918.5(DBT):c.187C>T (p.Gln63Ter) rs1663814241
NM_001918.5(DBT):c.196C>T (p.Gln66Ter) rs1663814011
NM_001918.5(DBT):c.207C>G (p.Leu69=)
NM_001918.5(DBT):c.207C>T (p.Leu69=)
NM_001918.5(DBT):c.209C>A (p.Ser70Ter) rs398123664
NM_001918.5(DBT):c.215T>C (p.Ile72Thr) rs565879664
NM_001918.5(DBT):c.225G>A (p.Gly75=) rs2100834832
NM_001918.5(DBT):c.228T>C (p.Ile76=)
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer) rs2100834784
NM_001918.5(DBT):c.243T>G (p.Val81=)
NM_001918.5(DBT):c.246A>G (p.Lys82=)
NM_001918.5(DBT):c.247del (p.Glu83fs)
NM_001918.5(DBT):c.250T>C (p.Trp84Arg)
NM_001918.5(DBT):c.251+15A>G
NM_001918.5(DBT):c.251+17A>G
NM_001918.5(DBT):c.251+18A>G
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001918.5(DBT):c.251+8A>T
NM_001918.5(DBT):c.251+9A>G
NM_001918.5(DBT):c.252-12T>G
NM_001918.5(DBT):c.252-1G>T rs1663522846
NM_001918.5(DBT):c.252-2A>G
NM_001918.5(DBT):c.252-2A>T
NM_001918.5(DBT):c.252-8T>C rs2100827755
NM_001918.5(DBT):c.258A>G (p.Val86=)
NM_001918.5(DBT):c.258_277del (p.Lys87fs) rs1553232197
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.261del (p.Glu88fs) rs1570836175
NM_001918.5(DBT):c.264A>G (p.Glu88=) rs1557956728
NM_001918.5(DBT):c.272_275del (p.Thr91fs) rs398123666
NM_001918.5(DBT):c.273A>C (p.Thr91=) rs2100827682
NM_001918.5(DBT):c.273A>G (p.Thr91=)
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
NM_001918.5(DBT):c.282G>A (p.Gln94=) rs2100827660
NM_001918.5(DBT):c.288T>C (p.Asp96=)
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
NM_001918.5(DBT):c.294C>G (p.Ile98Met) rs121965001
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr) rs1557956678
NM_001918.5(DBT):c.298G>T (p.Glu100Ter) rs1663520073
NM_001918.5(DBT):c.29G>A (p.Trp10Ter) rs572340170
NM_001918.5(DBT):c.300A>G (p.Glu100=) rs772023545
NM_001918.5(DBT):c.304C>T (p.Gln102Ter) rs2100827593
NM_001918.5(DBT):c.30G>A (p.Trp10Ter)
NM_001918.5(DBT):c.311A>G (p.Asp104Gly) rs1553232188
NM_001918.5(DBT):c.311A>T (p.Asp104Val) rs1553232188
NM_001918.5(DBT):c.321T>A (p.Ser107=)
NM_001918.5(DBT):c.325dup (p.Thr109fs)
NM_001918.5(DBT):c.333T>C (p.Thr111=)
NM_001918.5(DBT):c.336T>C (p.Ser112=) rs1254104594
NM_001918.5(DBT):c.342T>C (p.Tyr114=) rs1207748719
NM_001918.5(DBT):c.351C>T (p.Val117=) rs767953425
NM_001918.5(DBT):c.360del (p.Lys120fs) rs398123668
NM_001918.5(DBT):c.360dup (p.Leu121fs) rs398123668
NM_001918.5(DBT):c.363_364del (p.Tyr122fs) rs753574354
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
NM_001918.5(DBT):c.365_366del (p.Tyr122fs) rs2100827350
NM_001918.5(DBT):c.366T>C (p.Tyr122=)
NM_001918.5(DBT):c.367_372del (p.Tyr123_Asn124del) rs1557956585
NM_001918.5(DBT):c.369T>C (p.Tyr123=) rs2100827345
NM_001918.5(DBT):c.36G>A (p.Arg12=) rs147775797
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
NM_001918.5(DBT):c.384T>C (p.Ile128=) rs918466852
NM_001918.5(DBT):c.391G>A (p.Val131Met) rs1663510723
NM_001918.5(DBT):c.394G>A (p.Gly132Arg)
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
NM_001918.5(DBT):c.39T>C (p.Asn13=) rs1431500513
NM_001918.5(DBT):c.408A>G (p.Val136=) rs528365976
NM_001918.5(DBT):c.427T>C (p.Leu143=) rs2100827179
NM_001918.5(DBT):c.42G>C (p.Ala14=)
NM_001918.5(DBT):c.42G>T (p.Ala14=) rs758610837
NM_001918.5(DBT):c.433+10G>A rs1024314250
NM_001918.5(DBT):c.433+10G>C rs1024314250
NM_001918.5(DBT):c.433+13T>G
NM_001918.5(DBT):c.433+17A>C
NM_001918.5(DBT):c.433+6G>A
NM_001918.5(DBT):c.433+7dup rs2100827150
NM_001918.5(DBT):c.433+8A>G
NM_001918.5(DBT):c.434-11C>T
NM_001918.5(DBT):c.434-14T>C
NM_001918.5(DBT):c.434-17T>G
NM_001918.5(DBT):c.434-1G>A rs754004231
NM_001918.5(DBT):c.434-1G>C
NM_001918.5(DBT):c.434-4C>T
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
NM_001918.5(DBT):c.438AGA[2] (p.Glu148del) rs761922057
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.449TTG[1] (p.Val151del) rs773087765
NM_001918.5(DBT):c.451G>A (p.Val151Ile) rs1282153768
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.45G>T (p.Gly15=)
NM_001918.5(DBT):c.465A>C (p.Ala155=)
NM_001918.5(DBT):c.474T>C (p.His158=) rs2100804457
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
NM_001918.5(DBT):c.480A>G (p.Glu160=)
NM_001918.5(DBT):c.483T>C (p.His161=) rs2100804431
NM_001918.5(DBT):c.488_489del (p.His163fs) rs760861011
NM_001918.5(DBT):c.4G>A (p.Ala2Thr) rs760664814
NM_001918.5(DBT):c.500A>C (p.Lys167Thr)
NM_001918.5(DBT):c.501G>A (p.Lys167=)
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
NM_001918.5(DBT):c.505C>T (p.Arg169Ter)
NM_001918.5(DBT):c.51+11T>C
NM_001918.5(DBT):c.51+13_51+14insT
NM_001918.5(DBT):c.51+14G>C
NM_001918.5(DBT):c.51+18G>C
NM_001918.5(DBT):c.51+18G>T
NM_001918.5(DBT):c.51+1G>C
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.51+7A>G
NM_001918.5(DBT):c.510A>G (p.Lys170=) rs1570820389
NM_001918.5(DBT):c.511_512insG (p.Thr171fs)
NM_001918.5(DBT):c.511del (p.Thr171fs)
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
NM_001918.5(DBT):c.514C>T (p.Leu172=) rs1344704881
NM_001918.5(DBT):c.516_522del (p.Ala173fs) rs2100804340
NM_001918.5(DBT):c.52-10T>G
NM_001918.5(DBT):c.52-18T>G rs1052822218
NM_001918.5(DBT):c.52-1G>C rs755914063
NM_001918.5(DBT):c.52-48_52-45delinsTAC rs1553233176
NM_001918.5(DBT):c.52-4G>A rs2100844854
NM_001918.5(DBT):c.52-5T>C
NM_001918.5(DBT):c.52-6del rs2100844868
NM_001918.5(DBT):c.52-9C>T
NM_001918.5(DBT):c.528A>G (p.Ala176=)
NM_001918.5(DBT):c.531_537del (p.Arg178fs) rs1372109444
NM_001918.5(DBT):c.532C>T (p.Arg178Cys)
NM_001918.5(DBT):c.533G>A (p.Arg178His)
NM_001918.5(DBT):c.535del (p.Arg179fs)
NM_001918.5(DBT):c.537T>C (p.Arg179=)
NM_001918.5(DBT):c.538C>G (p.Leu180Val) rs2100804291
NM_001918.5(DBT):c.549A>G (p.Glu183=) rs2100804264
NM_001918.5(DBT):c.54T>C (p.Ile18=) rs1171616529
NM_001918.5(DBT):c.555+1G>A rs1553231037
NM_001918.5(DBT):c.555+8C>A rs548611008
NM_001918.5(DBT):c.555+8C>T
NM_001918.5(DBT):c.555dup (p.Ile186fs)
NM_001918.5(DBT):c.556-12A>G
NM_001918.5(DBT):c.556-14A>G
NM_001918.5(DBT):c.556-3dup
NM_001918.5(DBT):c.556-5T>C
NM_001918.5(DBT):c.567_568del (p.Ser189fs)
NM_001918.5(DBT):c.573del (p.Val192fs)
NM_001918.5(DBT):c.576T>C (p.Val192=)
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.579C>T (p.Gly193=)
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
NM_001918.5(DBT):c.581C>G (p.Ser194Ter) rs121965003
NM_001918.5(DBT):c.595A>G (p.Arg199Gly) rs2100799976
NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)
NM_001918.5(DBT):c.630A>G (p.Glu210=)
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.639del (p.Gly214fs)
NM_001918.5(DBT):c.63C>G (p.Arg21=)
NM_001918.5(DBT):c.641_643del (p.Gly214del) rs1553230840
NM_001918.5(DBT):c.642A>C (p.Gly214=)
NM_001918.5(DBT):c.645T>G (p.Ala215=)
NM_001918.5(DBT):c.650dup (p.Leu217fs)
NM_001918.5(DBT):c.663C>T (p.Pro221=) rs1662468729
NM_001918.5(DBT):c.663_670del (p.Lys222fs) rs748851630
NM_001918.5(DBT):c.666A>G (p.Lys222=)
NM_001918.5(DBT):c.667G>A (p.Val223Ile)
NM_001918.5(DBT):c.668T>G (p.Val223Gly) rs772801811
NM_001918.5(DBT):c.676A>G (p.Met226Val)
NM_001918.5(DBT):c.696A>G (p.Pro232=) rs2100799691
NM_001918.5(DBT):c.6T>A (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.6T>G (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.702C>T (p.Asp234=)
NM_001918.5(DBT):c.709G>C (p.Val237Leu) rs947272551
NM_001918.5(DBT):c.70C>T (p.Gln24Ter) rs1664173086
NM_001918.5(DBT):c.713del (p.Pro238fs)
NM_001918.5(DBT):c.714T>C (p.Pro238=)
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.735G>A (p.Pro245=)
NM_001918.5(DBT):c.741C>T (p.Phe247=)
NM_001918.5(DBT):c.743_744del (p.Thr248fs)
NM_001918.5(DBT):c.744A>C (p.Thr248=) rs765082016
NM_001918.5(DBT):c.747C>G (p.Gly249=) rs200612682
NM_001918.5(DBT):c.75A>T (p.Thr25=)
NM_001918.5(DBT):c.762del (p.Glu254fs) rs2100799447
NM_001918.5(DBT):c.772+11T>C
NM_001918.5(DBT):c.772+17C>G
NM_001918.5(DBT):c.772+17_772+19del
NM_001918.5(DBT):c.772+19A>G
NM_001918.5(DBT):c.772+1G>C rs2100799417
NM_001918.5(DBT):c.772+2T>G
NM_001918.5(DBT):c.772+7A>G
NM_001918.5(DBT):c.772+8T>C
NM_001918.5(DBT):c.772+8TAA[2]
NM_001918.5(DBT):c.772+9A>G rs2100799392
NM_001918.5(DBT):c.773-14T>G
NM_001918.5(DBT):c.773-2A>G rs398123674
NM_001918.5(DBT):c.773-4T>C
NM_001918.5(DBT):c.775_778del (p.Phe259fs)
NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)
NM_001918.5(DBT):c.783del (p.Ala262fs)
NM_001918.5(DBT):c.787A>G (p.Met263Val) rs753685282
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.792C>G (p.Val264=) rs2100797477
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
NM_001918.5(DBT):c.799_800del (p.Met267fs)
NM_001918.5(DBT):c.804T>A (p.Ser268=) rs1283378890
NM_001918.5(DBT):c.804T>C (p.Ser268=) rs1283378890
NM_001918.5(DBT):c.813G>A (p.Leu271=)
NM_001918.5(DBT):c.820C>A (p.Pro274Thr) rs1310427311
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.82_84dup (p.Asn28dup) rs746916491
NM_001918.5(DBT):c.831T>C (p.Gly277=) rs2100797397
NM_001918.5(DBT):c.834T>C (p.Tyr278=) rs2100797369
NM_001918.5(DBT):c.849C>T (p.Asp283=)
NM_001918.5(DBT):c.84T>C (p.Asn28=)
NM_001918.5(DBT):c.853A>C (p.Thr285Pro) rs1662391542
NM_001918.5(DBT):c.855T>C (p.Thr285=)
NM_001918.5(DBT):c.861G>A (p.Leu287=)
NM_001918.5(DBT):c.86T>C (p.Val29Ala) rs1473273369
NM_001918.5(DBT):c.870C>T (p.Leu290=)
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.876A>G (p.Glu292=)
NM_001918.5(DBT):c.87T>A (p.Val29=) rs2100844766
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
NM_001918.5(DBT):c.881T>G (p.Leu294Ter)
NM_001918.5(DBT):c.883A>C (p.Lys295Gln) rs1158505606
NM_001918.5(DBT):c.891T>C (p.Ile297=) rs1184322880
NM_001918.5(DBT):c.894A>C (p.Ala298=)
NM_001918.5(DBT):c.897T>C (p.Phe299=) rs2100797177
NM_001918.5(DBT):c.898del (p.Ala300fs) rs1570816218
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
NM_001918.5(DBT):c.903T>C (p.Arg301=)
NM_001918.5(DBT):c.904G>T (p.Gly302Ter)
NM_001918.5(DBT):c.910_919del (p.Lys304fs) rs2100797119
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
NM_001918.5(DBT):c.915C>T (p.Leu305=) rs2100797139
NM_001918.5(DBT):c.916T>C (p.Ser306Pro) rs2100797134
NM_001918.5(DBT):c.917C>G (p.Ser306Cys) rs794727856
NM_001918.5(DBT):c.917_918delinsT (p.Ser306fs)
NM_001918.5(DBT):c.932T>C (p.Phe311Ser) rs1662388035
NM_001918.5(DBT):c.933C>T (p.Phe311=) rs2100797103
NM_001918.5(DBT):c.936A>G (p.Leu312=)
NM_001918.5(DBT):c.939+10A>G rs1450707467
NM_001918.5(DBT):c.939+13C>G
NM_001918.5(DBT):c.939+2del
NM_001918.5(DBT):c.939+7T>C
NM_001918.5(DBT):c.940-10T>C rs1306548973
NM_001918.5(DBT):c.940-17C>A
NM_001918.5(DBT):c.940-18T>G rs2100788572
NM_001918.5(DBT):c.940-4A>C
NM_001918.5(DBT):c.940-5A>C rs1296647053
NM_001918.5(DBT):c.940-7T>C rs2100788531
NM_001918.5(DBT):c.940-7del rs2100788542
NM_001918.5(DBT):c.940-9G>T
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
NM_001918.5(DBT):c.945T>C (p.Ala315=) rs2100788485
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
NM_001918.5(DBT):c.960A>G (p.Leu320=) rs2100788475
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383
NM_001918.5(DBT):c.961_962del (p.Gln321fs) rs2100788460
NM_001918.5(DBT):c.962A>T (p.Gln321Leu) rs758048048
NM_001918.5(DBT):c.963G>A (p.Gln321=) rs762063921
NM_001918.5(DBT):c.963G>C (p.Gln321His)
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup) rs1557946237
NM_001918.5(DBT):c.979G>A (p.Ala327Thr)
NM_001918.5(DBT):c.990T>C (p.Asp330=) rs2100788342
NM_001918.5(DBT):c.991G>A (p.Glu331Lys) rs2100788336
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
NM_001918.5(DBT):c.99G>A (p.Lys33=) rs2100844736
NM_001918.5(DBT):c.9A>T (p.Ala3=) rs772869478

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.