Family | Genes | Variant type | Protein change | DNA Change | Associated human disease | Mouse phenotypea |
---|---|---|---|---|---|---|
CC14 | PQLC2 | M | p.V2F | c.4G > T | NA | NA |
CC205 | PTGER3 | M | p.A158V | c.473C > T | NA | NA |
CC226 | ACAN | M | p.C2282R | c.6844 T > C | Spondyloepimetaphyseal dysplasia (AR), Osteochondritis dissecans | Abnormal liver morphology, enlarged liver |
CC234 | KRT80 | M | p.S249C | c.745A > T | NA | NA |
CC3 | TENM4 | M | p.R2238W | c.6712C > T | NA | NA |
CC35 | TMEFF1 | M | p.H231R | c.692A > G | NA | NA |
PXDN | F | p.P225fs | c.673delC | Sclerocornea (AD) | NA | |
CC4 | MAP2K1 | M | p.I103S | c.308 T > G | Noonan's syndrome (AD, AR) | NA |
CC55 | ANKRD11 | M | p.K1464fs | c.4388del-GAGA | KBG syndrome (AD) | NA |
TLN1 | M | p.R2398W | c.7192C > T | NA | NA | |
CC7 | PPP2R2B | F | p.G386fs | c.1128del-G | Spinocerebellar ataxia (AD) | NA |
CC81 | C6 | M | p.W571C | c.1713G > T | Complement component 6 deficiency | NA |
HEATR6 | M | p.T948I | c.2843C > T | NA | NA | |
PIK3CA | M | p.I191M | c.573A > G | Keratosis seborrheic (AD), cancer | Increased pancreatic beta cell number | |
VC10 | PPP1R15B | M | p.P139H | c.416C > A | NA | Abnormal liver morphology |
RTEL1 | S | p.G973b | c.2917G > T | Dyskeratosis congenital (AR/AD), Pulmonary fibrosis (AR) | NA | |
TXLNB | M | p.R211Q | c.632G > A | NA | NA | |
VC61 | CYLD | M | p.W487L | c.1460G > T | Familial multiple trichoepitheliomata; Spiegler-Brooke syndrome (AR) | Abnormal intestinal epithelium morphology |
KCNH3 | M | p.V195A | c.584T > C | NA | NA | |
SDC3 | M | p.R302W | c.904C > T | NA | NA | |
VC63 | ZNF330 | M | p.F54L | c.160T > C | NA | NA |