Table 2.
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.