NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
NM_001232.4(CASQ2):c.234+2T>C
|
rs757789935
|
0.00002
|
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)
|
rs758748280
|
0.00001
|
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter)
|
rs754834466
|
0.00001
|
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)
|
rs776874142
|
0.00001
|
NM_001232.4(CASQ2):c.939+1G>T
|
rs905985075
|
0.00001
|
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)
|
rs749547712
|
0.00001
|
NC_000001.10:g.(?_116269603)_(116269753_?)del
|
|
|
NM_001232.4(CASQ2):c.1014+1G>A
|
rs1654250819
|
|
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)
|
rs1553191909
|
|
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
|
|
|
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
|
|
|
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)
|
rs756636650
|
|
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
|
|
|
NM_001232.4(CASQ2):c.204del (p.Lys68fs)
|
rs786205795
|
|
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
|
|
|
NM_001232.4(CASQ2):c.213del (p.Gln71fs)
|
rs786205799
|
|
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
|
|
|
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)
|
|
|
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)
|
rs1553197939
|
|
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
|
|
|
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)
|
rs786205106
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
|
|
|
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
|
|
|
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)
|
rs1648034747
|
|
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)
|
rs375598471
|
|
NM_001232.4(CASQ2):c.500T>A (p.Leu167His)
|
rs121434550
|
|
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
|
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
NM_001232.4(CASQ2):c.606+1G>C
|
rs786205791
|
|
NM_001232.4(CASQ2):c.62del (p.Glu21fs)
|
rs397507555
|
|
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)
|
rs1647617368
|
|
NM_001232.4(CASQ2):c.737+1G>A
|
|
|
NM_001232.4(CASQ2):c.737+2T>A
|
rs1366771173
|
|
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
|
|
|
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
|
|
|
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
|
|
|
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)
|
rs1471576368
|
|
NM_001232.4(CASQ2):c.919G>C (p.Asp307His)
|
rs121434549
|
|
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
|
|
|
NM_001232.4(CASQ2):c.939+5G>C
|
rs746128346
|
|
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
|
|
|
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)
|
rs397507556
|
|
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter)
|
rs767023791
|
|