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. 2012 Apr;67(Suppl 1):57–61. doi: 10.6061/clinics/2012(Sup01)11

Table 1.

Sixteen RET intragenic SNPs that were genotyped in patients with MTC alone or HSCR/MTC from a newly reported FMTC/MEN2 family.

SNP*) Location DNA Protein
rs2505533 Intron 1 c.74-1454T>C /
Novel SNP c.74-1379T>A /
rs2505532 c.74-1362C>T /
rs72781232 c.74-1329G>A /
rs2505531 c.74-1290T>C /
rs2565206 c.74-126G>T /
rs1800858 Exon 2 c.135G>A p.A45A
rs1864404 Intron 5 c.1064-89A>T /
Novel SNP Intron 7 c.1522+58C>A /
rs1800860 Exon 7 c.1296A>G p.A432A
rs3026750 Intron 8 c.1648+84G>A /
rs34827976 c.1648+88delC /
rs1799939 Exon 11 c.2071G>A p.G691S
rs1800861 Exon 13 c.2307T>A p.L769L
rs1800862 Exon 14 c.2508C>T p.S836S
rs1800863 Exon 15 c.2712C>G p.S904S