Table 4 Information on rare variants of five novel associated genes
From: The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
Patient | Gene symbol | Variant type | Zygosity | Chr_Position | Ref transcript | Variant nomenclature | GERP++ score | CADD score | ExAC AF-total |
|---|---|---|---|---|---|---|---|---|---|
CS63 | BAZ1B | In-frame insertion | Het | 7_72861616 | NM_032408.3 | c.3804_3821dupGGAGGAGGAGGAAGAAGA (p.Glu1268_Glu1273dup) | – | – | 0.000016 |
CS216 | BAZ1B | Missense | Het | 7_72912871 | NM_032408.3 | c.527A > G (p.Lys176Arg) | 5.26 | 17.03 | 0.0000082 |
CS519 | BAZ1B | Missense | Het | 7_72892427 | NM_032408.3 | c.1364G > A (p.Arg455Gln) | 5.56 | 11.17 | 0.000016 |
CS193 | FREM2 | Missense | Het | 13_39452441 | NM_207361.4 | c.8842 T > C (p.Tyr2948His) | 0.572 | 5.468 | 0.000033 |
CS1049 | FREM2 | Missense | Het | 13_39450454 | NM_207361.4 | c.8479C > T (p.Arg2827Cys) | 3.79 | 18.07 | 0.000016 |
OS1056 | FREM2 | Missense | Het | 13_39424205 | NM_207361.4 | c.6410A > T (p.Tyr2137Phe) | 5.79 | 17.11 | 0.0000083 |
CS488 | KMT2D | Missense | Het | 12_49425124 | NM_003482.3 | c.13364G > A (p.Arg4455His) | 5.57 | 13.45 | 0.000058 |
CS1162 | KMT2D | Missense | Het | 12_49444297 | NM_003482.3 | c.3074C > T (p.Ser1025Leu) | 3.4 | 6.896 | 0.000059 |
CS1210 | KMT2D | Missense | Het | 12_49432200 | NM_003482.3 | c.8939C > T (p.Ala2980Val) | 2.77 | 11.24 | 0.000017 |
CS63 | SUFU | Missense | Het | 10_104375107 | NM_016169.3 | c.1105G > A (p.Val369Ile) | 5.21 | 12.54 | 0.000091 |
CS132 | SUFU | Splice region | Het | 10_104375165 | NM_016169.3 | c.1157 + 6C > T | – | – | 0.000033 |
CS1130 | VANGL1 | Synonymous | Het | 1_116206326 | NM_138959.2 | c.249G > A (p.Ser83=) | – | – | 0.00012 |
CS927 | VANGL1 | Missense | Het | 1_116227985 | NM_138959.2 | c.1151C > G (p.Pro384Arg) | 5.44 | 25.8 | 0.0000083 |