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.401C>T (p.Pro134Leu)
|
rs1131691488
|
0.00002
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
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.52-1G>A
|
rs755914063
|
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
|
NC_000001.10:g.(?_100680363)_(100684318_?)del
|
|
|
NC_000001.11:g.(?_100196235)_(100196442_?)del
|
|
|
NC_000001.11:g.(?_100214807)_(100230924_?)del
|
|
|
NC_000001.11:g.(?_100240751)_(100240894_?)del
|
|
|
NM_001918.5(DBT):c.113_114del (p.Cys38fs)
|
rs2100844690
|
|
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
NM_001918.5(DBT):c.1195del (p.Ser399fs)
|
rs2100779888
|
|
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)
|
rs2100779419
|
|
NM_001918.5(DBT):c.1264dup (p.Ala422fs)
|
rs1401829291
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.1281+2T>A
|
rs2100779270
|
|
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)
|
rs776490043
|
|
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.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
NM_001918.5(DBT):c.143_146dup (p.His49fs)
|
rs1384034981
|
|
NM_001918.5(DBT):c.17dup (p.Met6fs)
|
rs2100772715
|
|
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer)
|
rs2100834784
|
|
NM_001918.5(DBT):c.247del (p.Glu83fs)
|
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.261del (p.Glu88fs)
|
rs1570836175
|
|
NM_001918.5(DBT):c.272_275del (p.Thr91fs)
|
rs398123666
|
|
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
|
|
|
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)
|
rs572340170
|
|
NM_001918.5(DBT):c.304C>T (p.Gln102Ter)
|
rs2100827593
|
|
NM_001918.5(DBT):c.311A>G (p.Asp104Gly)
|
rs1553232188
|
|
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.437C>A (p.Ser146Ter)
|
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_001918.5(DBT):c.457del (p.Thr153fs)
|
|
|
NM_001918.5(DBT):c.488_489del (p.His163fs)
|
rs760861011
|
|
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
|
|
|
NM_001918.5(DBT):c.516_522del (p.Ala173fs)
|
rs2100804340
|
|
NM_001918.5(DBT):c.531_537del (p.Arg178fs)
|
rs1372109444
|
|
NM_001918.5(DBT):c.555dup (p.Ile186fs)
|
|
|
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
|
|
|
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
NM_001918.5(DBT):c.639del (p.Gly214fs)
|
|
|
NM_001918.5(DBT):c.650dup (p.Leu217fs)
|
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
NM_001918.5(DBT):c.762del (p.Glu254fs)
|
rs2100799447
|
|
NM_001918.5(DBT):c.783del (p.Ala262fs)
|
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
NM_001918.5(DBT):c.799_800del (p.Met267fs)
|
|
|
NM_001918.5(DBT):c.828del (p.Phe276fs)
|
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
|
|
|
NM_001918.5(DBT):c.910_919del (p.Lys304fs)
|
rs2100797119
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
|
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
NM_001918.5(DBT):c.961_962del (p.Gln321fs)
|
rs2100788460
|
|