Two non-synonymous likely pathogenic variants in RNF43 identified from whole-genome sequencing and whole-exome sequencing of 74 individuals with serrated polyposis syndrome
| Age Dx | Serrated polyp count | Variant | rs number | ESP6500si_EA | PolyPhen2_HDIV | SIFT | FATHMM | CADD_phred |
|---|---|---|---|---|---|---|---|---|
| 18 | >100 | RNF43 NM_017763:exon6:c.C640G:p.L214V | rs200626293 | 0.0003 | Damaging | Tolerated | Tolerated | 18.97 |
| 57 | 34 | RNF43 NM_017763:exon4:c.C443G:p.A148G | rs142178517 | 0.0001 | Damaging | Tolerated | Tolerated | 26.8 |