NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00004
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NM_000455.5(STK11):c.971C>T (p.Pro324Leu)
|
rs367807476
|
0.00001
|
NC_000019.10:g.(?_1222975)_(1226647_?)del
|
|
|
NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del
|
|
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NC_000019.9:g.(?_1205797)_(1223172_1226452)del
|
|
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NC_000019.9:g.(?_1219313)_(1219422_?)del
|
|
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NM_000455.5(STK11):c.1033_1108+9dup
|
|
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NM_000455.5(STK11):c.1036_1037del (p.Gly346fs)
|
|
|
NM_000455.5(STK11):c.141dup (p.Lys48fs)
|
rs2145405118
|
|
NM_000455.5(STK11):c.169dup (p.Glu57fs)
|
rs121913319
|
|
NM_000455.5(STK11):c.179dup (p.Tyr60Ter)
|
rs876661012
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
NM_000455.5(STK11):c.290+1_290+7del
|
rs1555735080
|
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NM_000455.5(STK11):c.290+2_290+4del
|
rs1568690546
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|
NM_000455.5(STK11):c.291-10_922del
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|
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NM_000455.5(STK11):c.291-15_292del
|
rs1599924500
|
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NM_000455.5(STK11):c.323A>G (p.Lys108Arg)
|
rs1057520040
|
|
NM_000455.5(STK11):c.326dup (p.Asn109fs)
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|
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NM_000455.5(STK11):c.329T>A (p.Val110Asp)
|
rs2145420687
|
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NM_000455.5(STK11):c.358G>T (p.Glu120Ter)
|
rs775595174
|
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NM_000455.5(STK11):c.374+2T>C
|
rs1555737480
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NM_000455.5(STK11):c.394T>C (p.Cys132Arg)
|
rs2080765290
|
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NM_000455.5(STK11):c.396C>G (p.Cys132Trp)
|
rs730881969
|
|
NM_000455.5(STK11):c.481A>T (p.Ile161Phe)
|
rs1131690938
|
|
NM_000455.5(STK11):c.526G>A (p.Asp176Asn)
|
rs730881979
|
|
NM_000455.5(STK11):c.530T>A (p.Ile177Asn)
|
rs1057520041
|
|
NM_000455.5(STK11):c.541A>G (p.Asn181Asp)
|
rs886037926
|
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NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu)
|
rs1568707668
|
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NM_000455.5(STK11):c.542A>G (p.Asn181Ser)
|
rs886037859
|
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NM_000455.5(STK11):c.543C>G (p.Asn181Lys)
|
rs730881973
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000455.5(STK11):c.580G>C (p.Asp194His)
|
rs121913315
|
|
NM_000455.5(STK11):c.582C>A (p.Asp194Glu)
|
rs786202134
|
|
NM_000455.5(STK11):c.589_597+6del
|
rs2145424662
|
|
NM_000455.5(STK11):c.644G>A (p.Gly215Asp)
|
rs1057520038
|
|
NM_000455.5(STK11):c.69del (p.Asp23fs)
|
rs2080670725
|
|
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr)
|
rs878853247
|
|
NM_000455.5(STK11):c.717G>C (p.Trp239Cys)
|
rs137853082
|
|
NM_000455.5(STK11):c.717del (p.Trp239fs)
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|
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NM_000455.5(STK11):c.719C>G (p.Ser240Trp)
|
rs730881976
|
|
NM_000455.5(STK11):c.725G>A (p.Gly242Glu)
|
rs1568708382
|
|
NM_000455.5(STK11):c.752G>A (p.Gly251Asp)
|
rs730881977
|
|
NM_000455.5(STK11):c.752G>T (p.Gly251Val)
|
|
|
NM_000455.5(STK11):c.851del (p.Asp284fs)
|
rs1555738723
|
|
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)
|
rs1555738724
|
|
NM_000455.5(STK11):c.854T>G (p.Leu285Arg)
|
rs1555738724
|
|
NM_000455.5(STK11):c.863-1G>A
|
rs863224448
|
|
NM_000455.5(STK11):c.863-1G>C
|
rs863224448
|
|
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)
|
rs1057524439
|
|
NM_000455.5(STK11):c.910C>G (p.Arg304Gly)
|
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
NM_000455.5(STK11):c.920+1G>A
|
rs1131690920
|
|
NM_000455.5(STK11):c.920+1G>C
|
|
|
NM_000455.5(STK11):c.920+2T>C
|
|
|
NM_000455.5(STK11):c.921-1G>C
|
rs398123406
|
|
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)
|
rs864622488
|
|
NM_000455.5(STK11):c.923G>T (p.Trp308Leu)
|
rs864622488
|
|
NM_000455.5(STK11):c.924G>C (p.Trp308Cys)
|
rs1057520042
|
|
NM_000455.5(STK11):c.944del (p.Pro315fs)
|
rs2145430705
|
|