Table 1 Gene mutations identified in whole exome sequencing and validated by Sanger sequencing.
Dog | Gene name | Gene ID | Amino acid change | Chromosome |
|---|---|---|---|---|
Dog 1 | CCDC136 | ENSCAFG00000023734 | p.R870W | 14 |
TP53 | ENSCAFG00000016714 | p.I151fs | 5 | |
Dog 2 | BBX | ENSCAFG00000009867 | p.D53Y | 33 |
N4BP2 | ENSCAFG00000015929 | p.S1282F | 3 | |
PDGFRB | ENSCAFG00000018214 | p.D881_I882delinsV | 4 | |
Dog 3 | ATRX | ENSCAFG00000017252 | p.L2119fs | X |
GARNL3 | ENSCAFG00000020142 | p.R204* | 9 | |
HTR2C | ENSCAFG00000029120 | p.R156H | X | |
NR3C2 | ENSCAFG00000007813 | p.R780* | 15 | |
NRXN3 | ENSCAFG00000030472 | p.V262A | 8 | |
SH3KBP1 | ENSCAFG00000013075 | p.R423* | X | |
TP53 | ENSCAFG00000016714 | p.D11fs | 5 | |
Dog 4 | NAV3 | ENSCAFG00000005746 | p.A343T | 15 |
PTPN11 | ENSCAFG00000008894 | p.G503V | 26 | |
ZMYM3 | ENSCAFG00000017043 | p.R295C | X | |
Dog 5 | AKAP4 | ENSCAFG00000015984 | p.Q669* | X |
ASMT | ENSCAFG00000024670 | p.G168R | X | |
C7 | ENSCAFG00000018608 | p.L726S | 4 | |
CLCA4 | ENSCAFG00000020244 | p.M325T | 6 | |
COL11A1 | ENSCAFG00000019985 | p.P1193T | 6 | |
FBN1 | ENSCAFG00000014548 | p.E2759G | 30 | |
FRAS1 | ENSCAFG00000008752 | p.I1313fs | 32 | |
FREM2 | ENSCAFG00000006019 | p.D1252Y | 25 | |
GGNBP2 | ENSCAFG00000017839 | NA | 9 | |
LAMA1 | ENSCAFG00000018597 | p.S3027F | 7 | |
MLEC | ENSCAFG00000010408 | p.E109K | 26 | |
MTX2 | ENSCAFG00000013416 | p.L157_Y159del | 36 | |
NUGGC | ENSCAFG00000008347 | p.R651fs | 25 | |
OPCML | ENSCAFG00000009842 | p.N40H | 5 | |
PDGFD | ENSCAFG00000032342 | p.S265T | 5 | |
PTPN11 | ENSCAFG00000008894 | p.E76K | 26 | |
RELN | ENSCAFG00000025345 | p.I819M | 18 | |
RIPK1 | ENSCAFG00000009321 | p.L659fs | 35 | |
SLC6A13 | ENSCAFG00000015769 | p.R413H | 27 | |
SMARCAL1 | ENSCAFG00000014421 | p.R652C | 37 |