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. 2015 Jun 2;13:173. doi: 10.1186/s12967-015-0525-x

Table 2.

Candidate genetic variants identified amongst individuals carrying autoimmunity, which are absent from controls

Chr Position Ref Allele Alt Allele Identifier Type of mutation Gene Transcript ID Exon HGVS protein
1 39,854,131 A C Unknown Nonsyn MACF1 NM_012090 52 p.Asn3144Thr
1 39,879,412 G A rs55976345 Nonsyn KIAA0754/MACF1 NM_015038 1 p.Ala1159Thr
6 109,767,639 G C Unknown Intronic/potential regulatory MICAL1 NM_001159291 * *
1 161,719,833 C G Unknown Nonsyn DUSP12 NM_007240 1 p.Pro81Arg
7 8,196,577 A T Unknown Intronic/potentially regulatory ICA1 NM_022307 * *
12 51,740,405 A G rs143199509 Splicing CELA1 NM_001971 1 Unknown
12 57,522,754 A C Unknown Nonsyn LRP1/STAT6 NM_002332 1 p.Thr3Pro
19 1,009,552 C G Unknown Nonsyn GRIN3B NM_138690 9 p.Ala1028Gly
19 17,392,775 C T Unknown Nonsyn BABAM1/ANKLE1 NM_001278444 1 p.Arg70Trp
19 17,392,775 C T Unknown Synonymous BABAM1/ANKLE1 NM_001278445 1 **
19 17,392,775 C T Unknown Nonsyn BABAM1/ANKLE1 NM_152363 1 p.Arg70Trp
19 19,245,591 A C Unknown Splicing TMEM161A NM_001256766 2 Unknown
19 19,245,591 A C Unknown Splicing TMEM161A NM_017814 2 Unknown
19 47,259,734 G C Unknown Nonsyn FKRP NM_001039885 4 p.Glu343Gln
19 47,259,734 G C Unknown Nonsyn FKRP NM_024301 4 p.Glu343Gln

HGVS human genome variation society.

* Intronic; ** synonymous.