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. 2011 Oct 18;33(1):100–103. doi: 10.1002/humu.21633

Table 1.

Mutations in the Chromatin Remodeling Gene, ARID1A

Sample Tumor type Nucleotide (genomic)b Nucleotide (cDNA)c Amino acid (protein) Mutation type MSI status
399 Breast g.chr1:26928914delC c.1323delC Fs Indel MSS
3814 Breast g.chr1:26979235G>A c.6259G>A p.G2087R Missense MSS
5887 Breast g.chr1:26978695A>T c.5719A>T p.I1907F Missense MSS
C-122 Breast g.chr1:26965396C>T c.2830C>T p.Q944X Nonsense MSS
Co001 Colon g.chr1:26896495delG c.1014delG Fs Indel MSI-high
Co001 Colon g.chr1:26973994delC c.4689delC Fs Indel MSI-high
Co014 Colon g.chr1:26970279delA c.3281delA Fs Indel MSI-high
Co024 Colon g.chr1:26970342delC c.3344delC Fs Indel MSI-high
Co024 Colon g.chr1:26978524delG c.5548delG Fs Indel MSI-high
Co038 Colon g.chr1:26973659delC c.4354delC Fs Indel MSI-high
Co038 Colon g.chr1:26978524delG c.5548delG Fs Indel MSI-high
Co083 Colon g.chr1:26978524delG c.5548delG Fs Indel MSI-high
Co097 Colon g.chr1:26978524dupG c.5548dupG Fs Indel MSI-high
Hx132 Colon g.chr1:26931798delC c.1848delC Fs Indel ND
Hx132 Colon g.chr1:26965600_26965602delAAC c.2944_2946delAAC In-frame del Indel ND
Hx164 Colon g.chr1:26930536C>T c.1657C>T p.Q553X Nonsense MSS
Hx245 Colon g.chr1:26979204C>A c.6228C>A p.Y2076X Nonsense MSS
Hx290 Colon g.chr1:26978814_26978820dupACAGAGC (hom) c.5838_5844dupACAGAGC Fs Indel MSS
Hx308 Colon g.chr1:26978810_26978811insAGCACAG c.5834_5835insAGCACAG Fs Indel ND
Hx326 Colon g.chr1:26962098_26962099dupTA c.2467_2468dupTA Fs Indel MSS
G07 Gastric g.chr1:26896360dupC c.879dupC Fs Indel MSI-high
G08 Gastric g.chr1:26896308delG c.827delG Fs Indel MSI-high
G13 Gastric g.chr1:26974048_26974049delCA c.4743_4744delCA Fs Indel MSI-high
G13 Gastric g.chr1:26978524delG c.5548delG Fs Indel MSI-high
G13 Gastric g.chr1:26974277C>T c.4972C>T p.R1658W Missense MSI-high
G18 Gastric g.chr1:26978335G>T c.5359G>T p.E1787X Nonsense MSS
G21 Gastric g.chr1:26978524delG c.5548delG Fs Indel MSI-high
G24 Gastric g.chr1:26973829T>A c.4524T>A p.Y1508X Nonsense MSI-high
G61 Gastric g.chr1:26978524delG c.5548delG Fs Indel ND
G61 Gastric g.chr1:26979396delC c.6420delC Fs Indel ND
G84 Gastric g.chr1:26961335dupG c.2357dupG Fs Indel MSS
G144 Gastric g.chr1:26896335delG c.854delG Fs Indel MSS
G280 Gastric g.chr1:26896450_26896456delGGGCGCC c.969_975delGGGCGCC Fs Indel MSS
L11C Lung g.chr1:26965400delG c.2834delG Fs Indel ND
L17C Lung g.chr1:26979379_26979384delATTCTG c.6403_6408delATTCTG In-frame del Indel MSS
MB118PTa Medulloblastoma g.chr1:26896496delG c.1015delG Fs Indel MSS
MB155PT Medulloblastoma g.chr1:26974198_26974199InsC c.4893_4894InsC Fs Indel MSS
MB156PT Medulloblastoma g.chr1:26974673delG c.5012delG Fs Indel MSS
Pa07Ca Pancreas g.chr1:26972534C>T c.3826C>T p.R1276X Nonsense MSS
Pa37X Pancreas g.chr1:26978923_26978924delTG c.5947_5948delTG Fs Indel MSS
Pa102Ca Pancreas g.chr1:26965645G>A IVS10+1G>A Splice site Splice site MSS
Pa144X Pancreas g.chr1:26959958_26959959insT c.1945_1946insT Fs Indel MSS
Pa158X Pancreas g.chr1:26961274dupC c.2296dupC Fs Indel MSS
Pa166X Pancreas g.chr1:26978941C>T c.5965C>T p.R1989X Nonsense MSS
Pa194X Pancreas g.chr1:26978941C>T c.5965C>T p.R1989X Nonsense MSS
Pa194X Pancreas g.chr1:26979263C>G c.6287C>G p.S2096X Nonsense MSS
Pa197X Pancreas g.chr1:26930464C>T c.1585C>T p.Q529X Nonsense MSS
Pa198X Pancreas g.chr1:26978524dupG c.5548dupG Fs Indel MSS
Pa216X Pancreas g.chr1:26961380delG c.2402delG Fs Indel MSS
SW32 Prostate g.chr1:26972768delC c.3977delC Fs Indel ND
SW32 Prostate g.chr1:26978524dupG c.5548dupG Fs Indel ND
Pr04PT Prostate g.chr1:26972790_26972792het_delGCA c.3999_4101delGCA In-frame del Indel MSI-high
a

Mutation previously reported.

b

Genomic co-ordinates refer to hg18.

c

Reference sequence CCDS285.1.

MSI, microsatellite instability; MSS, microsatellite stable; ND, not determined.