NM_000537.4(REN):c.249+1G>A
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rs756544334
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_000458.4(HNF1B):c.458A>G (p.His153Arg)
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rs1598848762
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NM_000537.4(REN):c.1079dup (p.Leu361fs)
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NM_000537.4(REN):c.1172_1173del (p.Thr391fs)
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NM_000537.4(REN):c.250-1del
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NM_000537.4(REN):c.36GCT[3] (p.Leu16del)
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rs1571652012
|
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NM_000537.4(REN):c.47T>A (p.Leu16His)
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rs121917743
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NM_000537.4(REN):c.58T>C (p.Cys20Arg)
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rs1658347337
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NM_001204285.2(MUC1):c.1354-1G>A
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NM_001204285.2(MUC1):c.184del (p.Ser62fs)
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NM_001204285.2(MUC1):c.293_296dup (p.Ser100fs)
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NM_003361.4(UMOD):c.1196A>G (p.His399Arg)
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rs1596552335
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NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)
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rs780475918
|
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NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp)
|
rs1555486021
|
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NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)
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NM_003361.4(UMOD):c.150C>G (p.Cys50Trp)
|
rs1965764292
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NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)
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|
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NM_003361.4(UMOD):c.172G>T (p.Gly58Cys)
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NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)
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NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)
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NM_003361.4(UMOD):c.189C>G (p.Cys63Trp)
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rs1199326518
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NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)
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rs1567311288
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NM_003361.4(UMOD):c.203A>T (p.Glu68Val)
|
rs2141676976
|
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NM_003361.4(UMOD):c.230G>C (p.Cys77Ser)
|
rs121917768
|
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NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)
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NM_003361.4(UMOD):c.248G>T (p.Cys83Phe)
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NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)
|
rs1449715458
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NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)
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NM_003361.4(UMOD):c.263G>A (p.Gly88Asp)
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rs2141676609
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NM_003361.4(UMOD):c.272_274del (p.Ser91del)
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rs1965755740
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NM_003361.4(UMOD):c.280T>C (p.Cys94Arg)
|
rs2141676543
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NM_003361.4(UMOD):c.313G>T (p.Gly105Cys)
|
rs747592262
|
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NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
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NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)
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NM_003361.4(UMOD):c.359G>T (p.Cys120Phe)
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NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)
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NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)
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NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)
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NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)
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NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
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NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)
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rs1064796542
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NM_003361.4(UMOD):c.552G>C (p.Trp184Cys)
|
rs1965732404
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NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)
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NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)
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NM_003361.4(UMOD):c.583T>C (p.Cys195Arg)
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NM_003361.4(UMOD):c.585_586delinsGA (p.Cys195_Asp196delinsTrpAsn)
|
|
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NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)
|
rs1965729129
|
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NM_003361.4(UMOD):c.587A>G (p.Asp196Gly)
|
rs1060499657
|
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NM_003361.4(UMOD):c.601G>T (p.Gly201Cys)
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|
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NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)
|
rs1567310019
|
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NM_003361.4(UMOD):c.610C>T (p.Arg204Cys)
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NM_003361.4(UMOD):c.611G>A (p.Arg204His)
|
|
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NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)
|
rs1567309965
|
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NM_003361.4(UMOD):c.667T>A (p.Cys223Ser)
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|
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NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)
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NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)
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NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)
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NM_003361.4(UMOD):c.742T>C (p.Cys248Arg)
|
rs1965716874
|
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NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)
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|
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NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)
|
rs1567309582
|
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NM_003361.4(UMOD):c.808G>T (p.Gly270Cys)
|
rs781101544
|
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NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)
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NM_003361.4(UMOD):c.891T>G (p.Cys297Trp)
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NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)
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NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)
|
rs1555487318
|
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NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)
|
rs1555487316
|
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NM_013336.4(SEC61A1):c.265C>T (p.Leu89Phe)
|
|
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