. 2022 Nov 29;8:128. doi: 10.1038/s41421-022-00475-2

Table 2.

Stop-gained, frameshift, and start-lost variants of CMPK2 in gnomAD database.

Chromosome Positions^a	rsIDs	Transcript Consequence^b	Protein Consequence	Annotation	Total population		East Asian population
Chromosome Positions^a	rsIDs	Transcript Consequence^b	Protein Consequence	Annotation	Allele Frequency^c	Homozygote Count	Allele Frequency^d	Homozygote Count
2:6851542	rs776359222	c.1126_1133del	p.Thr376SerfsTer2	frameshift	6.577E-06	0	0	0
2:6851587	rs1188711213	c.1088del	p.Pro363GlnfsTer15	frameshift	6.5699E-06	0	0.00019253	0
2:6851595	rs1177412695	c.1081 C > T	p.Gln361Ter	stop_gained	6.5715E-06	0	0	0
2:6851628	rs200083396	c.1048 C > T	p.Gln350Ter	stop_gained	6.5721E-06	0	0.00019275	0
2:6851632	–	c.1043dup	p.Leu349SerfsTer22	frameshift	6.6141E-06	0	0	0
2:6851660	–	c.1015del	p.Tyr339MetfsTer3	frameshift	6.5719E-06	0	0	0
2:6861364	rs200690985	c.812 C > A	p.Ser271Ter	stop_gained	0.00024969	0	0	0
2:6861364	rs200690985	c.812 C > G	p.Ser271Ter	stop_gained	6.5707E-06	0	0	0
2:6861368	rs757743769	c.808 C > T	p.Gln270Ter	stop_gained	1.3146E-05	0	0	0
2:6863518	–	c.736 C > T	p.Gln246Ter	stop_gained	6.5701E-06	0	0	0
2:6863524	rs773169808	c.710_729del	p.Leu237ProfsTer22	frameshift	6.5739E-06	0	0	0
2:6865075	rs1448087587	c.621del	p.Leu207PhefsTer62	frameshift	6.5697E-06	0	0	0
2:6865141	rs757223880	c.556 C > T	p.Gln186Ter	stop_gained	6.5685E-06	0	0	0
2:6865304	rs894719630	c.391_392del	p.Phe131ProfsTer8	frameshift	6.571E-06	0	0	0
2:6865317	rs774163844	c.379del	p.Ala127HisfsTer142	frameshift	6.5706E-06	0	0	0
2:6865354	–	c.326_342del	p.Arg109ProfsTer25	frameshift	6.5738E-06	0	0.00019283	0
2:6865396	–	c.301 C > T	p.Gln101Ter	stop_gained	6.5822E-06	0	0	0
2:6865397	rs1352574559	c.299_300insG	p.His100GlnfsTer40	frameshift	4.607E-05	0	0	0
2:6865412	–	c.257_284dup	p.His95GlnfsTer54	frameshift	6.5858E-06	0	0	0
2:6865439	rs1485742827	c.230_257del	p.Val77GlyfsTer183	frameshift	6.59E-06	0	0	0
2:6865476	rs1178431768	c.221 C > A	p.Ser74Ter	stop_gained	6.5977E-06	0	0	0
2:6865582	–	c.114del	p.Asp39ThrfsTer9	frameshift	6.5963E-06	0	0	0

^aPosition on Genome Reference Consortium human genome build 38 (GRCh38).

^bThe accession number for CMPK2 is NM_207315.

^cThe frequency of the mutation in total population was calculated by mutated allele number/total allele number in parentheses.

^dThe frequency of the mutation in east Asian population was calculated by mutated allele number/total allele number in parentheses. gnomAD, Genome Aggregation Database.