Table 2 Pathogenic variants and likely pathogenic variants of East Asian and Korean in gnomAD population
Nucleotide change | Amino acid change | gnomAD allele frequency (allele count/allele number) | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Korean (n = 1909) | East Asain (n = 9197) | African (n = 8128) | Latino (n = 17,296) | Ashkenazi Jewish (n = 5040) | European (Finnish) (n = 10,824) | European (non-Finnish) (n = 56,885) | Other (n = 3070) | South Asian (n = 15,308) | ||
c.16 C > T | p.Gln6Ter | 0 | 5.437E−05 (1/18,394) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.356 A > G | p.His119Arg | 0 | 5.44E−05 (1/18,382) | 0 | 0 | 0 | 0 | 7.046E−05 (8/113,532) | 0 | 0.00026228 (8/30,502) |
c.724 C > T | p.Arg242Cys | 0 | 5.437E−05 (1/18,394) | 0.0001847 (3/16,244) | 0 | 0 | 0 | 0.0001672 (19/113,650) | 0.0001630 (1/6,136) | 3.2663E−05 (1/30,616) |
c.725G > A | p.Arg242His | 0 | 5.437E−05 (1/18,394) | 0 | 0 | 0 | 0 | 3.52E−05 (4/113,650) | 0 | 0 |
c.730G > A | p.Gly244Arg | 0 | 5.437E−05 (1/18,392) | 0 | 0 | 0 | 0 | 8.8E−06 (1/113,638) | 0 | 0.0001960 (6/30,616) |
c.852 C > A | p.Phe284Leu | 0 | 5.446E−05 (1/18,362) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.860 A > G | p.Asn287Ser | 0 | 5.444E−05 (1/18,370) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.907G > A | p.Gly303Arg | 0.0026192 (10/3,818) | 0.0005439 (10/18,386) | 0.0002461 (4/16,254) | 2.892E-05 (1/34,580) | 0 | 4.634E-05 (1/21,578) | 6.156E−05 (7/113,704) | 0 | 0 |
c.1055G > A | p.Arg352Gln | 0.0002622 (1/3,814) | 5.473E−05 (1/18,270) | 0.0001248 (2/16,022) | 0 | 0 | 0 | 1.786E−05 (2/111,962) | 0 | 3.2686E−05 (1/30,594) |
c.1084 C > A | p.Arg362Ser | 0 | 5.462E-05 (1/18,308) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.1085G > A | p.Arg362His | 0 | 5.46E−05 (1/18,316) | 0 | 0 | 0 | 0 | 4.475E−05 (5/111,722) | 0 | 9.8026E−05 (3/30,604) |
c.1139G > T | p.Cys380Phe | 0.001048 (4/3,816) | 0.0002188 (4/18,280) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.1140 C > A | p.Cys380Ter | 0.001048 (4/3,818) | 0.0002187 (4/18,286) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.1190 C > T | p.Ser397Leu | 0 | 5.541E−05 (1/18,046) | 0 | 0 | 0 | 0 | 1.833E−05 (2/109,128) | 0 | 0 |
c.1426T > C | p.Ter476GlnextTer51 | 0 | 0.0002189 (4/18,276) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |