Genomic diversity and population structure of the Leonberger dog breed

Table 1 Rare protein-changing private variants in Leonberger dogs

Gene	OMIM/ OMIA number	Variant designation^a			Alternative allele frequency
Gene	OMIM/ OMIA number	Genomic position	Coding DNA change	Protein change	Alternative allele frequency
ATXN7	607640	chr20:27,234,549	c.2285 T > C	p.Val762Ala	0.1154
CEP55	610000	chr28:7,777,489	c.1334A > C	p.Tyr446Ser	0.0256
CNTF	118945	chr18:37,758,771	c.401_402insA	p.Asn137fs	0.0128
ELOVL4	605512	chr12:40,850,011	c.424_433delGGAGCACAGC	p.Gly142fs	0.0128
FDX1L	614585	chr20:50,798,661	c.124_125insGGCCGCCATCACCACGGCGGTGAGCACCGCCGCCAGCAGCACCAGCCCGTCAGCGTTGAGCCG	p.Thr41_Ala42insGlyProProSerProArgArgTer	0.0128
GJA9^b	611923/2119–9615	chr15:3,863,519	c.1108_1109delGA	p.Glu370fs	0.0513
MCM3AP	603294	chr31:39,553,337	c.1785_1793delCTCTGAAGG	p.Ser596_Gly598del	0.0128
NAPEPLD^c	612334/1788–9615	chr18:16,987,520	c.559G > C	p.Ala187Pro	0.1154
PLEKHG5	611101	chr5:60,325,903	c.1585C > T	p.Gln529*	0.0128
SPTBN4	606214/2232–9823	chr1:113,215,064	c.1247_1248insGGTAGCCCATGCGGT	p.Ala416_Ala417insValAlaHisAlaVal	0.0128
SYNE1	608441	chr1:42,549,994	c.17359C > T	p.Arg5788Trp	0.0256

^aAdditional details including the protein prediction effects are described in Additional file 10 Table S6. All positions refer to the CanFam3.1 reference sequence assembly
^bPreviously described polyneuropathy-associated variant [5]
^cPreviously described leukoencephalomyelopathy-associated variant [6]

ISSN: 1297-9686