The rates are the percentage of mutation carriers in the Colombian and global population, using the 1000 Genomes Project
Cases | Gene | Position at cDNA | Protein change | rs | Variant type | GMAF | Colombian rate |
Case 1 | TREM2 | c.469C>T | p.H157Y | rs2234255 | Missense | 0.0028 | 0.020 |
TREM2 | c.185G>A | p.R62H | rs143332484 | Missense | 0.0049 | 0.016 | |
VAPB | c.510G>A | p.M170I | rs143144050 | Missense | 0.0010 | 0.000 | |
DCTN1 | c.1998G>A | p.T666= | rs149900553 | Synonymous | 0.0008 | 1000 | |
SETX | c.6507G>A | p.G2169= | rs34073320 | Synonymous | 0.0098 | 0.037 | |
LRRK2 | c.4624C>T | p.P1542S | rs33958906 | Missense | 0.0132 | 0.069 | |
Case 2 | TREM2 | c.469C>T | p.H157Y | rs2234255 | Missense | 0.0028 | 0.020 |
OPTN | c.1339ยช>G | p.M447V | Missense | ND | ND | ||
SNCA | c.216G>A | p.Thr72= | rs144758871 | Synonymous | ND | ND | |
Case 3 | TREM2 | c.469C>T | p.H157Y | rs2234255 | Missense | 0.0028 | 0.020 |
MFSD8 | c.1153G>C | p.G385R | rs11098943 | Missense | ND | ND |
DCTN1, dynactin subunit 1; GMAF, global minor allele frequency; LRRK2, leucine-rich repeat kinase 2; MSFD8, major facilitator superfamily domain-containing protein 8; ND, no data; OPTN, optineurin; SETX, senataxin; SNCA, synuclein alpha; TREM2, triggering receptor expressed on myeloid cells 2; VAPB, VAMP-associated protein B and C.