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Table 2 Candidate genetic variants identified amongst individuals carrying autoimmunity, which are absent from controls

From: Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren’s syndrome

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
  1. HGVS human genome variation society.
  2. * Intronic; ** synonymous.