Supplementary materials: TP53 germline alterations detected in 82 French LFS families

Exon / intron / Mutation / Type of mutation / nb of families
3 / c.93delT / p.Leu32CysfsX12 / frameshift / 1
4 / c.214_215insC or
c.216_217insC / p.Arg72ProfsX77 or
p.Val73ArgfsX76 / frameshift / 1
4 / c.286_288del / p.Ser96del / in frame / 1
4 / c.310C>T / p.Gln104X / nonsense / 1
4 / c.329G>T / p.Arg110Leu / missense / 1
4 / c.374C>G / p.Thr125Arg / missense / 2
4 / c.375G>A / p.Thr125Thr / splicing / 2
5 / c.388C>T / p.Leu130Phe / missense / 1
5 / c.392A>G / p.Asn131Ser / missense / 1
5 / c.393_395delCAA / p.Asn131del / in frame / 1
5 / c.422G>A / p.Cys141Tyr / missense / 2
5 / c.455C>T / p.Pro152Leu / missense / 2
5 / c.473G>A / p.Arg158His / missense / 2
5 / c.476C>A / p.Ala159Asp / missense / 1
5 / c.493_495dupCAG / p.Gln165dup / in frame / 1
5 / c.523C>G / p.Arg175Gly / missense / 1
5 / c.524G>A / p.Arg175His / missense / 4
5 / c.535C>T / p.His179Tyr / missense / 2
5 / c.537T>G / p.His179Gln / missense / 1
i5 / c.559+1G>C / SDi5 / splicing / 1
6 / c.589G>T / p.Val197Leu / missense / 1
6 / c.636delT / p.Arg213AspfsX34 / frameshift / 1
i6 / c.672+2T>A / SD i6 / splicing / 1
i6 / c.673-2A>G / SA i6 / splicing / 2
i6 / c.673-1G>A / SA i6 / splicing / 1
7 / c.711G>A / p.Met237Ile / missense / 1
7 / c.718A>T / p.Ser240Cys / missense / 1
7 / c.724T>C / p.Cys242Arg / missense / 1
7 / c.730G>A / p.Gly244Ser / missense / 1
7 / c.733G>A / p.Gly245Ser / missense / 2
7 / c.742C>T / p.Arg248Trp / missense / 1
7 / c.743G>A / p.Arg248Gln / missense / 4
7 / c.754_762del9 / p.Leu252_Ile254del / in frame / 1
7 / c.761T>C / p.Ile254Thr / missense / 1
i7 / c.783-1G>A / SAi7 / splicing / 1
8 / c.790_792delCTA / p.Leu264del / in frame / 1
8 / c.797G>A / p.Gly266Glu / missense / 1
8 / c.814G>A / p.Val272Met / missense / 1
8 / c.817C>T / p.Arg273Cys / missense / 1
8 / c.818G>A / p.Arg273His / missense / 3
8 / c.818G>T / p.Arg273Leu / missense / 1
8 / c.832C>T / p.Pro278Ser / missense / 1
8 / c.842A>T / p.Asp281Val / missense / 1
8 / c.844C>G / Arg282Gly / missense / 1
8 / c.844C>T / p.Arg282Trp / missense / 6
8 / c.906delG / p.Ser303AlafsX42 / frameshift / 1
8 / c.910G>A / p.Thr304Ala / missense / 1
8 / c.916C>T / p.Arg306X / nonsense / 1
9 / c.935C>G / p.Thr312Ser / missense / 1
9 / c.991C>T / p.Gln331X / nonsense / 1
10 / c.1009C>T / p.Arg337Cys / missense / 3
10 / c.1024C>T / p.Arg342X / nonsense / 1
10 / c.1038_1040delGGC / p.Glu346_Ala347delinsAsp / in frame / 1
10 / c.1096T>G / p.Ser366Ala / missense / 1
11 / c.1131delC / p.Ser378ProfsX44 / frameshift / 1
- / complete del / complete del / large deletion / 1
- / del prom-ex1 / del prom-ex1 / large deletion / 1
- / del prom-ex1 / del prom-ex1 / large deletion / 1
- / del ex2-10 / del ex2-10 / large deletion / 1


Supplementary materials: sequencing primers

Exon / Forward primer (5'>3') / Reverse primer (5'>3')
1 / TTCTGCCCTCACAGCTCTG / GCTCAAGGTTCCCCAAAGCT
2+3 / GTCTCAGACACTGGCATGGT / GGGGACTGTAGATGGGTGAA
4 / TAAGGACAAGGGTTGGGCTG / GAGGAATCCCAAAGTTCCAA
5+6 / GAAAAGCTCCTGAGGTGTAG / GGTCAAATAAGCAGCAGGAG
7 / TTGCCACAGGTCTCCCCAA / AGAAATCGGTAAGAGGTGG
8+9 / TGGAGCTTAGGCTCCAGAAA / TGTCTTTGAGGCATCACTGC
10 / TCAAACAATTGTAACTTGAACCATC / GAAGGCAGGATGAGAATGGA
11 / TCTGAGGTGCTCAGTAAACA / CAAGCAAGGGTTCAAAGAC

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