Table 1.
Summary of CDS and selected NCDS de novo SNVs and indels
| Type | Gene | HSCR gene? | Chromosome | Position# | Variants | Patient |
|---|---|---|---|---|---|---|
| CDS | CCT2 | No | chr12 | 69993654 | NC_000012.11:g.69993654 G > A | HD09C |
| VASH1 | No | chr14 | 77242233 | NC_000014.8:g.77242233 A > G | HD09C | |
| CYP26A1 | No | chr10 | 94835712 | NG_008067.1:g.7481 A > G | HK9C | |
| PKD1L2 | No | chr16 | 81174937 | NG_033236.1:g.84039 G > A | HD09C | |
| TMEM175 | No | chr4 | 952275 | NC_000004.11:g.952275 C > T | HK9C | |
| CSMD3 | No | chr8 | 113841961 | NC_000008.10:g.113841961 T > C | VH105C | |
| CCDC82 | No | chr11 | 96117858 | NC_000011.9:g.96117858 A > T | VH108C | |
| NCDS | NRG1 | Yes | chr8 | 32159191 | NG_012005.2:g.667454 G > C | VH106C |
| NRG1 | Yes | chr8 | 31583959 | NG_012005.2:g.92222 G > T | HK164C | |
| NRG1 | Yes | chr8 | 31637861 | NG_012005.2:g.146124 A > G | VH108C | |
| ERBB4 | Yes | chr2 | 212573293 | NG_011805.1:g.835055_835059delAAACA | VH106C | |
| SEMA3A | Yes | chr7 | 83618485 | NG_011489.1:g.210732delT | VH106C | |
| ZEB2 | Yes | chr2 | 145137510 | NC_000002.11:g.145137510 C > T | HK164C | |
| DCC | Yes | chr18 | 50512872 | NG_013341.2:g.651331 G > A | HK180C |
# Positons are based on hg19