NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
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rs80338685
|
0.00046
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NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
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rs13073139
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0.00039
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NM_001370658.1(BTD):c.410G>A (p.Arg137His)
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rs146015592
|
0.00016
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NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
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rs80338686
|
0.00011
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NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
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rs28934601
|
0.00006
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NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
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rs149399432
|
0.00004
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NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
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rs397514412
|
0.00001
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NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
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rs749460715
|
0.00001
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NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
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NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
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NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
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NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
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rs1481968221
|
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NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
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rs2066894484
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NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
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NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
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NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
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NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
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NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
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NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
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NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
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rs2066882139
|
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NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
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NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
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NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
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NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
|
rs2065045000
|
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NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
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rs148814769
|
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NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
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NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
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NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
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rs2065038117
|
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NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
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rs973578825
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NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
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NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
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NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
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NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
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rs2090069178
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NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
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rs1324486146
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NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
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NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
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rs2089755918
|
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NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
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rs2066942076
|
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NM_001352514.2(HLCS):c.616del (p.Glu206fs)
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NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
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NM_001352514.2(HLCS):c.726dup (p.Val243fs)
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NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
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NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
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NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
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NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
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NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
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rs779907293
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NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
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rs760029192
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NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
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NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
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NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
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NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
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rs80338684
|
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