ClinVar Miner

List of variants in gene DBT studied for maple syrup urine disease

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 747
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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 0.79085
NM_001918.5(DBT):c.*5150A>G rs6701655 0.75793
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
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 0.30478
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_001918.5(DBT):c.1150= (p.Ser384=) rs12021720 0.12408
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04799
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 0.04366
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.02990
NM_001918.5(DBT):c.*6646G>T rs72973747 0.02820
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_001918.5(DBT):c.*8983dup rs67820832 0.02408
NM_001918.5(DBT):c.*8977T>C rs113536022 0.02248
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.*5919A>G rs115442245 0.01236
NM_001918.5(DBT):c.*8607G>A rs150241889 0.01209
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01042
NM_001918.5(DBT):c.*8552A>T rs543411196 0.00862
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00844
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 0.00569
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.175+37G>A rs76902654 0.00194
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.*594A>G rs147781191 0.00150
NM_001918.5(DBT):c.*3461A>G rs532058526 0.00125
NM_001918.5(DBT):c.*8663T>C rs576300118 0.00103
NM_001918.5(DBT):c.*8083C>T rs190798710 0.00099
NM_001918.5(DBT):c.*2074A>C rs536515775 0.00092
NM_001918.5(DBT):c.*1917C>A rs886044957 0.00091
NM_001918.5(DBT):c.*4273C>A rs12568926 0.00085
NM_001918.5(DBT):c.*3521G>A rs754461561 0.00083
NM_001918.5(DBT):c.*6716C>G rs529415312 0.00080
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_001918.5(DBT):c.*5969C>T rs141483625 0.00071
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00067
NM_001918.5(DBT):c.1282-10_1282-9dup rs375086643 0.00058
NM_001918.5(DBT):c.*7307G>C rs182980145 0.00048
NM_001918.5(DBT):c.*9105A>G rs574151688 0.00048
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00047
NM_001918.5(DBT):c.*1332T>C rs191584096 0.00044
NM_001918.5(DBT):c.*9123A>G rs79752201 0.00044
NM_001918.5(DBT):c.*4507T>C rs762813875 0.00038
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00038
NM_001918.5(DBT):c.*4291C>A rs1256627350 0.00032
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.670G>T (p.Glu224Ter) rs74103423 0.00025
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.1282-11_1282-9del rs1661098485 0.00023
NM_001918.5(DBT):c.1282-16_1282-9del rs2100761408 0.00023
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00023
NM_001918.5(DBT):c.*5877G>C rs562874757 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.1210-9_1210-8insT rs201755806 0.00021
NM_001918.5(DBT):c.*4250C>T rs774122510 0.00020
NM_001918.5(DBT):c.964T>C (p.Phe322Leu) rs148571335 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.*3245G>A rs1266134285 0.00013
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.*2619G>A rs541064624 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.*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.*8118T>C rs758082965 0.00008
NM_001918.5(DBT):c.*551C>T rs756147809 0.00007
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln) rs142160613 0.00007
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00007
NM_001918.5(DBT):c.1282-19T>C rs1331211326 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.*5784T>C rs187688215 0.00006
NM_001918.5(DBT):c.*8074G>A rs550751216 0.00006
NM_001918.5(DBT):c.*8734A>C rs564195699 0.00006
NM_001918.5(DBT):c.555+8C>A rs548611008 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.*293C>T rs1017324148 0.00005
NM_001918.5(DBT):c.*8080C>G rs1018443361 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.1127G>A (p.Arg376His) rs150934375 0.00005
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888 0.00005
NM_001918.5(DBT):c.36G>C (p.Arg12Ser) rs147775797 0.00005
NM_001918.5(DBT):c.556-12A>G rs894187607 0.00005
NM_001918.5(DBT):c.572T>G (p.Val191Gly) rs146894954 0.00005
NM_001918.5(DBT):c.*4864C>T rs920810590 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.1210-10_1210-9del rs794726986 0.00004
NM_001918.5(DBT):c.181C>T (p.Arg61Cys) rs181239040 0.00004
NM_001918.5(DBT):c.182G>A (p.Arg61His) rs199954954 0.00004
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 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.936A>G (p.Leu312=) rs529685983 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.*3586A>G rs541279304 0.00003
NM_001918.5(DBT):c.*488G>A rs778739081 0.00003
NM_001918.5(DBT):c.1143C>G (p.Gly381=) rs1052326198 0.00003
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr) rs769600540 0.00003
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser) rs763881630 0.00003
NM_001918.5(DBT):c.16A>G (p.Met6Val) rs749693779 0.00003
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00003
NM_001918.5(DBT):c.251+17A>G rs753466954 0.00003
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_001918.5(DBT):c.27C>G (p.Thr9=) rs371418997 0.00003
NM_001918.5(DBT):c.512C>T (p.Thr171Ile) rs925823030 0.00003
NM_001918.5(DBT):c.533G>A (p.Arg178His) rs139251881 0.00003
NM_001918.5(DBT):c.733C>A (p.Pro245Thr) rs200339376 0.00003
NM_001918.5(DBT):c.979G>A (p.Ala327Thr) rs754125552 0.00003
NM_001918.5(DBT):c.*3187C>G rs886044952 0.00002
NM_001918.5(DBT):c.*4425C>A rs1030557885 0.00002
NM_001918.5(DBT):c.*5561A>G rs886044945 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.1173T>G (p.Leu391=) rs763246178 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.1394A>G (p.Asn465Ser) rs372606149 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.*1640C>T rs1660988947 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.*456C>G rs886044963 0.00001
NM_001918.5(DBT):c.*4688G>T rs573460625 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+15G>A rs1484276183 0.00001
NM_001918.5(DBT):c.1017+16T>A rs767640106 0.00001
NM_001918.5(DBT):c.1017+8A>G rs541924732 0.00001
NM_001918.5(DBT):c.1017+9T>C rs773457541 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1036A>G (p.Ile346Val) rs1302449788 0.00001
NM_001918.5(DBT):c.1077G>A (p.Val359=) rs2524108659 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.1185A>T (p.Thr395=) rs760500398 0.00001
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1210-12T>A rs757787791 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.1219A>G (p.Thr407Ala) rs761825178 0.00001
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn) rs1215964536 0.00001
NM_001918.5(DBT):c.1251A>G (p.Glu417=) rs1220716552 0.00001
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp) rs796051945 0.00001
NM_001918.5(DBT):c.1275A>G (p.Ser425=) rs1570806049 0.00001
NM_001918.5(DBT):c.1281+1G>T rs1557943881 0.00001
NM_001918.5(DBT):c.1282-16T>C rs751339430 0.00001
NM_001918.5(DBT):c.1282-7T>C rs1557939372 0.00001
NM_001918.5(DBT):c.1282-9C>A rs1404199687 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.129T>G (p.Pro43=) rs1273265929 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.1389C>T (p.Phe463=) rs886044964 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.159C>T (p.Phe53=) rs772209054 0.00001
NM_001918.5(DBT):c.15T>C (p.Arg5=) rs773817425 0.00001
NM_001918.5(DBT):c.175+9G>A rs779334816 0.00001
NM_001918.5(DBT):c.176-4G>A rs769021966 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.215T>C (p.Ile72Thr) rs565879664 0.00001
NM_001918.5(DBT):c.228T>C (p.Ile76=) rs1663812935 0.00001
NM_001918.5(DBT):c.230G>A (p.Arg77Lys) rs1327679054 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.292A>G (p.Ile98Val) rs772411032 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.398A>T (p.Lys133Met) rs1455876610 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.433+13T>G rs2524216031 0.00001
NM_001918.5(DBT):c.434-11C>T rs1662642876 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.51+14G>C rs1664805426 0.00001
NM_001918.5(DBT):c.51+18G>T rs1388052528 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.556-14A>G rs1311335512 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.645T>G (p.Ala215=) rs373489009 0.00001
NM_001918.5(DBT):c.663C>T (p.Pro221=) rs1662468729 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001918.5(DBT):c.735G>A (p.Pro245=) rs752454574 0.00001
NM_001918.5(DBT):c.765C>T (p.Pro255=) rs767126022 0.00001
NM_001918.5(DBT):c.772+19A>G rs774729261 0.00001
NM_001918.5(DBT):c.772+7A>T rs904010521 0.00001
NM_001918.5(DBT):c.772+8T>C rs1453439500 0.00001
NM_001918.5(DBT):c.772+9A>G rs2100799392 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.876A>G (p.Glu292=) rs1662390666 0.00001
NM_001918.5(DBT):c.884A>G (p.Lys295Arg) rs139216072 0.00001
NM_001918.5(DBT):c.899C>T (p.Ala300Val) rs760045168 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
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.*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.*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.*4576G>A rs531886164
NM_001918.5(DBT):c.*4576G>C rs531886164
NM_001918.5(DBT):c.*5380G>C rs1660776922
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) rs2524126829
NM_001918.5(DBT):c.1014T>C (p.Tyr338=) rs2524126763
NM_001918.5(DBT):c.1017+10G>A rs1662082563
NM_001918.5(DBT):c.1017+11C>G rs2524126691
NM_001918.5(DBT):c.1017+1G>A rs1176555925
NM_001918.5(DBT):c.1017+1G>T rs1176555925
NM_001918.5(DBT):c.1017+1del rs796052134
NM_001918.5(DBT):c.1018-10T>A rs1328647470
NM_001918.5(DBT):c.1018-10dup rs1287581664
NM_001918.5(DBT):c.1018-15T>C rs1204380585
NM_001918.5(DBT):c.1018-16A>T rs756694063
NM_001918.5(DBT):c.1018-17A>G rs754255984
NM_001918.5(DBT):c.1018-2A>T rs2524109140
NM_001918.5(DBT):c.1018-3del rs2100780335
NM_001918.5(DBT):c.1018-4T>C rs2524109162
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=) rs2524109032
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=) rs2524108705
NM_001918.5(DBT):c.1068C>T (p.Val356=) rs776489419
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.1087C>T (p.Gln363Ter)
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=) rs2524108416
NM_001918.5(DBT):c.111_114del (p.Cys38fs) rs2100844690
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) rs780579655
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=) rs763246178
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) rs1661797765
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.1195del (p.Ser399fs) rs2100779888
NM_001918.5(DBT):c.1196C>G (p.Ser399Cys) rs2100779875
NM_001918.5(DBT):c.1199A>G (p.Asn400Ser) rs1661797008
NM_001918.5(DBT):c.1200C>T (p.Asn400=) rs2524107767
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 rs772021583
NM_001918.5(DBT):c.1209+9_1209+10dup rs2524107649
NM_001918.5(DBT):c.120T>C (p.Phe40=) rs2524255473
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>G rs757787791
NM_001918.5(DBT):c.1210-1G>C rs1271011315
NM_001918.5(DBT):c.1210-23_1210-20del
NM_001918.5(DBT):c.1210-3T>A rs758470589
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 rs2524106726
NM_001918.5(DBT):c.1210-9_1210-8insTT rs201755806
NM_001918.5(DBT):c.1210-9_1210-8inv
NM_001918.5(DBT):c.1212T>C (p.Ile404=) rs2100779467
NM_001918.5(DBT):c.1212T>G (p.Ile404Met) rs2100779467
NM_001918.5(DBT):c.1215T>C (p.Gly405=) rs750251917
NM_001918.5(DBT):c.1221C>T (p.Thr407=) rs2524106499
NM_001918.5(DBT):c.1227C>T (p.Ala409=) rs2524106484
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu) rs2100779419
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr) rs2524106384
NM_001918.5(DBT):c.123T>C (p.Gly41=) rs2100844658
NM_001918.5(DBT):c.1240del (p.Met414fs) rs2524106373
NM_001918.5(DBT):c.1245A>G (p.Pro415=) rs768636446
NM_001918.5(DBT):c.1248T>C (p.Pro416=) rs2100779369
NM_001918.5(DBT):c.1260T>C (p.Ile420=) rs2524106162
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr) rs1410768110
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) rs2524106032
NM_001918.5(DBT):c.1274C>G (p.Ser425Ter) rs2524106032
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 rs2524105849
NM_001918.5(DBT):c.1281+18C>T rs1570806006
NM_001918.5(DBT):c.1281+1G>A
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 rs2524105959
NM_001918.5(DBT):c.1281+8_1281+20del rs756393621
NM_001918.5(DBT):c.1281+9A>G rs1230992082
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 rs1374973220
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 rs751339430
NM_001918.5(DBT):c.1282-18T>C rs1661103116
NM_001918.5(DBT):c.1282-18_1282-10del rs752915898
NM_001918.5(DBT):c.1282-19_1282-10del rs752915898
NM_001918.5(DBT):c.1282-1G>A
NM_001918.5(DBT):c.1282-20T>C rs766612235
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 rs752915898
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_1282-2del rs1553228653
NM_001918.5(DBT):c.1282-8A>G rs764781766
NM_001918.5(DBT):c.1282-9dup rs1553228660
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.1314A>G (p.Val438=) rs2524063673
NM_001918.5(DBT):c.1317T>C (p.Tyr439=) rs2100761130
NM_001918.5(DBT):c.131C>G (p.Ser44Ter) rs2524255388
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) rs2524063437
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1346C>G (p.Ser449Ter) rs2524063471
NM_001918.5(DBT):c.1347A>G (p.Ser449=) rs2524063462
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr) rs398123661
NM_001918.5(DBT):c.1351G>C (p.Asp451His)
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) rs2524255372
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala) rs2524063344
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) rs2524063273
NM_001918.5(DBT):c.138G>A (p.Lys46=) rs2524255350
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=) rs2524063068
NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer) rs1553233152
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr) rs143990438
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.1441C>T (p.Leu481=) rs1250082167
NM_001918.5(DBT):c.1448G>T (p.Ter483Leu) rs121965000
NM_001918.5(DBT):c.14G>A (p.Arg5His) rs761530853
NM_001918.5(DBT):c.160del (p.Phe53_Leu54insTer)
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.175+10A>G rs768995201
NM_001918.5(DBT):c.175+16A>G rs2524255120
NM_001918.5(DBT):c.175+1G>A rs2100844517
NM_001918.5(DBT):c.175+7A>T rs2524255155
NM_001918.5(DBT):c.176-15C>G rs762049483
NM_001918.5(DBT):c.176-15C>T rs762049483
NM_001918.5(DBT):c.176-1G>A rs1663814857
NM_001918.5(DBT):c.176-9T>A
NM_001918.5(DBT):c.17dup (p.Met6fs) rs2100772715
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=) rs2524234669
NM_001918.5(DBT):c.207C>T (p.Leu69=) rs2524234669
NM_001918.5(DBT):c.209C>A (p.Ser70Ter) rs398123664
NM_001918.5(DBT):c.225G>A (p.Gly75=) rs2100834832
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer) rs2100834784
NM_001918.5(DBT):c.243T>G (p.Val81=) rs2524234489
NM_001918.5(DBT):c.246A>G (p.Lys82=) rs2524234480
NM_001918.5(DBT):c.247del (p.Glu83fs) rs2524234474
NM_001918.5(DBT):c.250T>C (p.Trp84Arg) rs113842781
NM_001918.5(DBT):c.251+15A>G rs2524234363
NM_001918.5(DBT):c.251+18A>G rs2524234345
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001918.5(DBT):c.251+20G>A
NM_001918.5(DBT):c.251+8A>T rs2524234403
NM_001918.5(DBT):c.251+9A>G rs1302216166
NM_001918.5(DBT):c.252-12T>G rs2524217373
NM_001918.5(DBT):c.252-1G>A
NM_001918.5(DBT):c.252-1G>T rs1663522846
NM_001918.5(DBT):c.252-2A>G rs1342553753
NM_001918.5(DBT):c.252-2A>T rs1342553753
NM_001918.5(DBT):c.252-8T>C rs2100827755
NM_001918.5(DBT):c.252G>A (p.Trp84Ter)
NM_001918.5(DBT):c.258A>G (p.Val86=) rs1663522415
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=) rs2100827682
NM_001918.5(DBT):c.280C>T (p.Gln94Ter) rs2524217135
NM_001918.5(DBT):c.282G>A (p.Gln94=) rs2100827660
NM_001918.5(DBT):c.288T>C (p.Asp96=) rs2524217092
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) rs1250753300
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=) rs1391070394
NM_001918.5(DBT):c.325dup (p.Thr109fs) rs2524216875
NM_001918.5(DBT):c.333T>C (p.Thr111=) rs779825242
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) rs2524216621
NM_001918.5(DBT):c.365_366del (p.Tyr122fs) rs2100827350
NM_001918.5(DBT):c.366T>C (p.Tyr122=) rs2524216561
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.384T>C (p.Ile128=) rs918466852
NM_001918.5(DBT):c.391G>A (p.Val131Met) rs1663510723
NM_001918.5(DBT):c.394G>A (p.Gly132Arg) rs2524216359
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=) rs758610837
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+17A>C rs2524216011
NM_001918.5(DBT):c.433+6G>A rs774333047
NM_001918.5(DBT):c.433+7dup rs2100827150
NM_001918.5(DBT):c.433+8A>G rs2524216072
NM_001918.5(DBT):c.434-14T>C rs762373582
NM_001918.5(DBT):c.434-17T>G rs752839693
NM_001918.5(DBT):c.434-1G>A rs754004231
NM_001918.5(DBT):c.434-1G>C rs754004231
NM_001918.5(DBT):c.434-20_434-19del
NM_001918.5(DBT):c.434-4C>T rs1174749310
NM_001918.5(DBT):c.437C>A (p.Ser146Ter) rs2524165275
NM_001918.5(DBT):c.437C>G (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) rs2524165156
NM_001918.5(DBT):c.45G>T (p.Gly15=) rs1664806415
NM_001918.5(DBT):c.465A>C (p.Ala155=) rs2524165075
NM_001918.5(DBT):c.474T>C (p.His158=) rs2100804457
NM_001918.5(DBT):c.475G>A (p.Asp159Asn) rs1350392391
NM_001918.5(DBT):c.479A>C (p.Glu160Ala) rs995821115
NM_001918.5(DBT):c.480A>G (p.Glu160=) rs2524164919
NM_001918.5(DBT):c.480del (p.Glu160fs)
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.4del (p.Ala2fs)
NM_001918.5(DBT):c.500A>C (p.Lys167Thr) rs1662637166
NM_001918.5(DBT):c.501G>A (p.Lys167=) rs2524164773
NM_001918.5(DBT):c.501_513del (p.Lys167fs) rs2524164669
NM_001918.5(DBT):c.505C>T (p.Arg169Ter) rs2524164751
NM_001918.5(DBT):c.51+11T>C rs2524291438
NM_001918.5(DBT):c.51+12T>C
NM_001918.5(DBT):c.51+13_51+14insT rs2524291421
NM_001918.5(DBT):c.51+18G>C rs1388052528
NM_001918.5(DBT):c.51+1G>C rs398123669
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.51+7A>G rs2524291538
NM_001918.5(DBT):c.510A>G (p.Lys170=) rs1570820389
NM_001918.5(DBT):c.511_512insG (p.Thr171fs) rs2524164689
NM_001918.5(DBT):c.511del (p.Thr171fs) rs2524164698
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 rs2524255960
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 rs1282953654
NM_001918.5(DBT):c.52-6del rs2100844868
NM_001918.5(DBT):c.52-9C>T rs1011914408
NM_001918.5(DBT):c.528A>G (p.Ala176=) rs753084031
NM_001918.5(DBT):c.531_537del (p.Arg178fs) rs1372109444
NM_001918.5(DBT):c.532C>T (p.Arg178Cys)
NM_001918.5(DBT):c.535del (p.Arg179fs) rs2524164534
NM_001918.5(DBT):c.537T>C (p.Arg179=) rs1662635059
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>T rs548611008
NM_001918.5(DBT):c.555dup (p.Ile186fs) rs2524164373
NM_001918.5(DBT):c.556-3dup rs2524155002
NM_001918.5(DBT):c.556-5T>C rs2524155011
NM_001918.5(DBT):c.567_568del (p.Ser189fs) rs2524154961
NM_001918.5(DBT):c.573del (p.Val192fs) rs745869101
NM_001918.5(DBT):c.576T>C (p.Val192=) rs2524154882
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.579C>T (p.Gly193=) rs2524154854
NM_001918.5(DBT):c.581C>A (p.Ser194Ter) rs121965003
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) rs2524154624
NM_001918.5(DBT):c.610G>T (p.Asp204Tyr)
NM_001918.5(DBT):c.612_614del (p.Ile205del)
NM_001918.5(DBT):c.624T>C (p.Tyr208=) rs752504160
NM_001918.5(DBT):c.630A>G (p.Glu210=) rs2524154507
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.639del (p.Gly214fs) rs2524154447
NM_001918.5(DBT):c.63C>G (p.Arg21=) rs2524255821
NM_001918.5(DBT):c.641_643del (p.Gly214del) rs1553230840
NM_001918.5(DBT):c.642A>C (p.Gly214=) rs2524154412
NM_001918.5(DBT):c.650dup (p.Leu217fs) rs2524154333
NM_001918.5(DBT):c.663_670del (p.Lys222fs) rs748851630
NM_001918.5(DBT):c.666A>G (p.Lys222=) rs2524154221
NM_001918.5(DBT):c.667G>A (p.Val223Ile) rs1241036322
NM_001918.5(DBT):c.668T>G (p.Val223Gly) rs772801811
NM_001918.5(DBT):c.676A>G (p.Met226Val) rs2524154133
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=) rs769175588
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) rs2524153852
NM_001918.5(DBT):c.714T>C (p.Pro238=) rs2524153841
NM_001918.5(DBT):c.715A>C (p.Ile239Leu) rs72973763
NM_001918.5(DBT):c.723A>G (p.Val241=)
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.741C>T (p.Phe247=) rs2524153549
NM_001918.5(DBT):c.743_744del (p.Thr248fs) rs2524153541
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=) rs1373317675
NM_001918.5(DBT):c.762del (p.Glu254fs) rs2100799447
NM_001918.5(DBT):c.772+11T>C rs2524153104
NM_001918.5(DBT):c.772+16A>G
NM_001918.5(DBT):c.772+17C>G rs761479941
NM_001918.5(DBT):c.772+17_772+19del rs2524153041
NM_001918.5(DBT):c.772+1G>C rs2100799417
NM_001918.5(DBT):c.772+2T>G rs2524153154
NM_001918.5(DBT):c.772+7A>G rs904010521
NM_001918.5(DBT):c.772+8TAA[2] rs1365337951
NM_001918.5(DBT):c.773-14T>G rs778860722
NM_001918.5(DBT):c.773-20A>G
NM_001918.5(DBT):c.773-2A>G rs398123674
NM_001918.5(DBT):c.773-4T>C rs1662397029
NM_001918.5(DBT):c.775_778del (p.Phe259fs) rs2524148167
NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs) rs2524148155
NM_001918.5(DBT):c.783del (p.Ala262fs) rs2524148089
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) rs780183109
NM_001918.5(DBT):c.799_800del (p.Met267fs) rs2524147997
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=) rs2524147914
NM_001918.5(DBT):c.820C>A (p.Pro274Thr) rs1310427311
NM_001918.5(DBT):c.828del (p.Phe276fs) rs2524147800
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=) rs763730151
NM_001918.5(DBT):c.84T>C (p.Asn28=) rs2524255702
NM_001918.5(DBT):c.853A>C (p.Thr285Pro) rs1662391542
NM_001918.5(DBT):c.855T>C (p.Thr285=) rs2524147622
NM_001918.5(DBT):c.861G>A (p.Leu287=) rs2524147583
NM_001918.5(DBT):c.86T>C (p.Val29Ala) rs1473273369
NM_001918.5(DBT):c.870C>T (p.Leu290=) rs2100797259
NM_001918.5(DBT):c.872G>A (p.Arg291Gln) rs775808731
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.87T>A (p.Val29=) rs2100844766
NM_001918.5(DBT):c.881T>A (p.Leu294Ter) rs2524147444
NM_001918.5(DBT):c.881T>G (p.Leu294Ter) rs2524147444
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=) rs1480810743
NM_001918.5(DBT):c.897T>C (p.Phe299=) rs2100797177
NM_001918.5(DBT):c.898del (p.Ala300fs) rs1570816218
NM_001918.5(DBT):c.903T>C (p.Arg301=) rs2524147222
NM_001918.5(DBT):c.904G>T (p.Gly302Ter) rs2524147212
NM_001918.5(DBT):c.910_919del (p.Lys304fs) rs2100797119
NM_001918.5(DBT):c.913C>T (p.Leu305Phe) rs2524147165
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) rs2524147113
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.939+10A>G rs1450707467
NM_001918.5(DBT):c.939+13C>G rs2524146760
NM_001918.5(DBT):c.939+20A>G
NM_001918.5(DBT):c.939+2del rs2524146862
NM_001918.5(DBT):c.939+7T>C rs2524146823
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676
NM_001918.5(DBT):c.940-10T>C rs1306548973
NM_001918.5(DBT):c.940-17C>A rs2524127336
NM_001918.5(DBT):c.940-18T>G rs2100788572
NM_001918.5(DBT):c.940-4A>C rs746543353
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 rs2524127288
NM_001918.5(DBT):c.940G>T (p.Ala314Ser) rs777223475
NM_001918.5(DBT):c.945T>C (p.Ala315=) rs2100788485
NM_001918.5(DBT):c.947_950del (p.Ser316fs) rs2524127154
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) rs762063921
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup) rs1557946237
NM_001918.5(DBT):c.978C>G (p.Asn326Lys)
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) rs2524126857
NM_001918.5(DBT):c.99G>A (p.Lys33=) rs2100844736
NM_001918.5(DBT):c.9A>T (p.Ala3=) rs772869478

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