PMID: 15298139

Lewis MJ, Lewis EH 3rd, Amos JA, Tsongalis GJ
Cystic fibrosis.
Am J Clin Pathol. 2003 Dec;120 Suppl:S3-13., [PubMed]
Sentences
No. Mutations Sentence Comment
9 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15298139:9:0
status: NEW
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 G542X is the most frequent mutation in Caucasians after ࢞F508, occurring at a frequency of 2%. Login to comment 95 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15298139:95:133
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15298139:95:168
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 15298139:95:184
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15298139:95:139
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15298139:95:153
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15298139:95:208
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 15298139:95:214
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15298139:95:146
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15298139:95:127
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 15298139:95:196
status: NEW
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ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 15298139:95:289
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15298139:95:203
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 15298139:95:190
status: NEW
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 ēa; ēa;Table 3ēa; ēa; Recommended Mutation Panel for Cystic Fibrosis Carrier Screening ࢞F508 ࢞I507 G542X G551D W1282X N1303K R553X 621+1G>T R117H 1717-1G>A A455E R560T R1162X G85E R334W R347P 711+1G>T 1898+1G>A 2184delA 1078delT 3849+10kbC>T 2789+5G>A 3659delC I148T 3120+1G>A I506V* I507V* F508C* 5T/7T/9T* * Reflex tests. Login to comment