NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
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.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_001918.5(DBT):c.1A>G (p.Met1Val)
|
rs759312184
|
0.00002
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
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.1384C>T (p.Arg462Cys)
|
rs765257706
|
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.206T>C (p.Leu69Pro)
|
rs1663813561
|
0.00001
|
NM_001918.5(DBT):c.52-1G>A
|
rs755914063
|
0.00001
|
NM_001918.5(DBT):c.5C>T (p.Ala2Val)
|
rs398123672
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NC_000001.10:g.(?_100671776)_(100672202_?)del
|
|
|
NC_000001.11:g.(?_100218757)_(100221872_?)del
|
|
|
NC_000001.11:g.100196336_100215732del
|
|
|
NM_001918.5(DBT):c.1017+1G>A
|
|
|
NM_001918.5(DBT):c.1017+1G>T
|
|
|
NM_001918.5(DBT):c.1018-2A>T
|
|
|
NM_001918.5(DBT):c.111_114del (p.Cys38fs)
|
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer)
|
rs1553229661
|
|
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile)
|
rs1661797765
|
|
NM_001918.5(DBT):c.1196C>G (p.Ser399Cys)
|
rs2100779875
|
|
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter)
|
rs1661796496
|
|
NM_001918.5(DBT):c.1210-1G>C
|
|
|
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
|
|
|
NM_001918.5(DBT):c.1240del (p.Met414fs)
|
|
|
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
|
|
|
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.1281+1G>C
|
rs1557943881
|
|
NM_001918.5(DBT):c.1282-5_1282-2del
|
rs1553228653
|
|
NM_001918.5(DBT):c.131C>G (p.Ser44Ter)
|
|
|
NM_001918.5(DBT):c.136_137insTGACTATACTTCATTCA (p.Lys46fs)
|
|
|
NM_001918.5(DBT):c.1385del (p.Arg462fs)
|
|
|
NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer)
|
rs1553233152
|
|
NM_001918.5(DBT):c.143_146dup (p.His49fs)
|
rs1384034981
|
|
NM_001918.5(DBT):c.175+1G>A
|
rs2100844517
|
|
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.209C>A (p.Ser70Ter)
|
rs398123664
|
|
NM_001918.5(DBT):c.250T>C (p.Trp84Arg)
|
|
|
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.258_277del (p.Lys87fs)
|
rs1553232197
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
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.30G>A (p.Trp10Ter)
|
|
|
NM_001918.5(DBT):c.311A>T (p.Asp104Val)
|
rs1553232188
|
|
NM_001918.5(DBT):c.325dup (p.Thr109fs)
|
|
|
NM_001918.5(DBT):c.360dup (p.Leu121fs)
|
rs398123668
|
|
NM_001918.5(DBT):c.394G>A (p.Gly132Arg)
|
|
|
NM_001918.5(DBT):c.434-1G>A
|
rs754004231
|
|
NM_001918.5(DBT):c.434-1G>C
|
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_001918.5(DBT):c.457del (p.Thr153fs)
|
|
|
NM_001918.5(DBT):c.505C>T (p.Arg169Ter)
|
|
|
NM_001918.5(DBT):c.51+1G>C
|
|
|
NM_001918.5(DBT):c.51+1G>T
|
rs398123669
|
|
NM_001918.5(DBT):c.511_512insG (p.Thr171fs)
|
|
|
NM_001918.5(DBT):c.511del (p.Thr171fs)
|
|
|
NM_001918.5(DBT):c.535del (p.Arg179fs)
|
|
|
NM_001918.5(DBT):c.555+1G>A
|
rs1553231037
|
|
NM_001918.5(DBT):c.567_568del (p.Ser189fs)
|
|
|
NM_001918.5(DBT):c.573del (p.Val192fs)
|
|
|
NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)
|
|
|
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
NM_001918.5(DBT):c.70C>T (p.Gln24Ter)
|
rs1664173086
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
NM_001918.5(DBT):c.743_744del (p.Thr248fs)
|
|
|
NM_001918.5(DBT):c.772+1G>C
|
rs2100799417
|
|
NM_001918.5(DBT):c.772+2T>G
|
|
|
NM_001918.5(DBT):c.775_778del (p.Phe259fs)
|
|
|
NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)
|
|
|
NM_001918.5(DBT):c.820C>A (p.Pro274Thr)
|
rs1310427311
|
|
NM_001918.5(DBT):c.828del (p.Phe276fs)
|
|
|
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
|
|
|
NM_001918.5(DBT):c.904G>T (p.Gly302Ter)
|
|
|
NM_001918.5(DBT):c.917C>G (p.Ser306Cys)
|
rs794727856
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|