NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_001918.5(DBT):c.433+300T>G
|
rs6681747
|
0.78647
|
NM_001918.5(DBT):c.*5546G>A
|
rs11166412
|
0.78278
|
NM_001918.5(DBT):c.1018-840T>C
|
rs7541105
|
0.76794
|
NC_000001.11:g.100250192C>G
|
rs3806236
|
0.75177
|
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.555+276C>A
|
rs6577158
|
0.74259
|
NC_000001.11:g.100249898G>A
|
rs3806235
|
0.71224
|
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.*9082C>T
|
rs72728160
|
0.12046
|
NC_000001.11:g.100186848C>T
|
rs4364901
|
0.05990
|
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.251+197T>C
|
rs17122062
|
0.04194
|
NM_001918.5(DBT):c.434-284T>G
|
rs72973768
|
0.03898
|
NC_000001.11:g.100250019A>T
|
rs75989770
|
0.03691
|
NM_001918.5(DBT):c.773-232T>A
|
rs72973760
|
0.03453
|
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.1281+273A>G
|
rs116767333
|
0.02690
|
NM_001918.5(DBT):c.*344G>T
|
rs58607634
|
0.02661
|
NM_001918.5(DBT):c.251+105A>T
|
rs151132097
|
0.01958
|
NM_001918.5(DBT):c.1018-157C>A
|
rs114413482
|
0.01266
|
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.1018-743G>A
|
rs74321712
|
0.01005
|
NM_001918.5(DBT):c.175+312T>C
|
rs79295393
|
0.00969
|
NM_001918.5(DBT):c.51+185A>G
|
rs3131838
|
0.00961
|
NC_000001.11:g.100249909G>C
|
rs41287254
|
0.00886
|
NM_001918.5(DBT):c.1281+248G>A
|
rs146214677
|
0.00873
|
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.1018-464A>G
|
rs76174317
|
0.00861
|
NM_001918.5(DBT):c.555+96A>G
|
rs149618173
|
0.00612
|
NM_001918.5(DBT):c.51+202G>C
|
rs79737399
|
0.00539
|
NM_001918.5(DBT):c.*389A>G
|
rs142589460
|
0.00374
|
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.175+37G>A
|
rs76902654
|
0.00154
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
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.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_001918.5(DBT):c.556-7T>C
|
rs755448648
|
0.00009
|
NM_001918.5(DBT):c.1127G>A (p.Arg376His)
|
rs150934375
|
0.00006
|
NM_001918.5(DBT):c.52-27T>A
|
rs202047153
|
0.00006
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
0.00002
|
NM_001918.5(DBT):c.1024C>T (p.His342Tyr)
|
rs398123655
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
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.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_001918.5(DBT):c.51+5G>C
|
rs398123670
|
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.871C>T (p.Arg291Ter)
|
rs398123675
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
GRCh37/hg19 1p21.2(chr1:100680373-100684303)x0
|
|
|
GRCh37/hg19 1p21.2(chr1:100680373-100684304)x0
|
|
|
NC_000001.11:g.100186848_100186849insACACAT
|
rs77858678
|
|
NC_000001.11:g.100186848_100186849insACAT
|
rs77858678
|
|
NC_000001.11:g.100186848_100186849insAT
|
rs77858678
|
|
NM_001918.5(DBT):c.*1916dup
|
rs745306619
|
|
NM_001918.5(DBT):c.*2633AAAT[7]
|
rs773873766
|
|
NM_001918.5(DBT):c.*4448GT[19]
|
rs1161001732
|
|
NM_001918.5(DBT):c.*4478_*4507del
|
rs1287487948
|
|
NM_001918.5(DBT):c.*4480_*4507del
|
rs140341302
|
|
NM_001918.5(DBT):c.*4482_*4507del
|
rs1418854977
|
|
NM_001918.5(DBT):c.*6114_*6115del
|
rs3081711
|
|
NM_001918.5(DBT):c.*6902_*6903del
|
rs71709231
|
|
NM_001918.5(DBT):c.*6903del
|
rs71709231
|
|
NM_001918.5(DBT):c.*7679_*7681dup
|
rs145958213
|
|
NM_001918.5(DBT):c.*8554del
|
rs886044938
|
|
NM_001918.5(DBT):c.*8554dup
|
rs886044938
|
|
NM_001918.5(DBT):c.1024C>G (p.His342Asp)
|
rs398123655
|
|
NM_001918.5(DBT):c.1096T>C (p.Ser366Pro)
|
rs398123656
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1133A>C (p.Gln378Pro)
|
rs398123657
|
|
NM_001918.5(DBT):c.1133A>G (p.Gln378Arg)
|
rs398123657
|
|
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.1258A>G (p.Ile420Val)
|
rs398123659
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.1281+140dup
|
rs35150096
|
|
NM_001918.5(DBT):c.1281+156_1281+157del
|
rs35150096
|
|
NM_001918.5(DBT):c.1281+157del
|
rs35150096
|
|
NM_001918.5(DBT):c.1282-11_1282-5del
|
rs750402853
|
|
NM_001918.5(DBT):c.1282-13_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-14_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-15_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-23_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-4C>A
|
rs1410431336
|
|
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)
|
rs776490043
|
|
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr)
|
rs398123661
|
|
NM_001918.5(DBT):c.137A>G (p.Lys46Arg)
|
rs794727263
|
|
NM_001918.5(DBT):c.1447T>C (p.Ter483Arg)
|
rs398123663
|
|
NM_001918.5(DBT):c.209C>T (p.Ser70Leu)
|
rs398123664
|
|
NM_001918.5(DBT):c.251G>A (p.Trp84Ter)
|
rs398123665
|
|
NM_001918.5(DBT):c.272_275del (p.Thr91fs)
|
rs398123666
|
|
NM_001918.5(DBT):c.339_345del (p.Tyr114fs)
|
rs398123667
|
|
NM_001918.5(DBT):c.360del (p.Lys120fs)
|
rs398123668
|
|
NM_001918.5(DBT):c.433+1G>T
|
rs794727635
|
|
NM_001918.5(DBT):c.433+92dup
|
rs11394110
|
|
NM_001918.5(DBT):c.434-186del
|
rs55792733
|
|
NM_001918.5(DBT):c.434-187_434-186del
|
rs55792733
|
|
NM_001918.5(DBT):c.434-196dup
|
rs55792733
|
|
NM_001918.5(DBT):c.51+1G>T
|
rs398123669
|
|
NM_001918.5(DBT):c.535C>T (p.Arg179Cys)
|
|
|
NM_001918.5(DBT):c.577G>A (p.Gly193Ser)
|
rs398123671
|
|
NM_001918.5(DBT):c.731del (p.Pro244fs)
|
rs1064795955
|
|
NM_001918.5(DBT):c.773-2A>G
|
rs398123674
|
|
NM_001918.5(DBT):c.773-68dup
|
rs11431894
|
|
NM_001918.5(DBT):c.917C>G (p.Ser306Cys)
|
rs794727856
|
|