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. 2019 Apr 9;138(6):601–611. doi: 10.1007/s00439-019-02008-6

Fig. 5.

Fig. 5

Sanger sequencing validated the mutations at the five SNP sites. A C > T missense mutation occurred at rs62152530 (RGPD3), a G > C missense mutation occurred at rs647711 (IGSF3), a T > C missense mutation occurred at rs10868138 (SLC28A3), and G > A missense mutations occurred at both rs1048603 (USP40) and rs838543 (USP40). The Sanger sequencing results confirmed that the five SNP sites identified by WES, indeed, had mutations