Table 2.
Incidence of carriers individuals for each pathogenic variant in the CBS gene in different populations according to the genomic database gnomAD total, non‐neuro, and control subgroups
| Variant (frequency in total gnomAD population (T); gnomAD non‐neuro (NN) and gnomAD controls (C) |
Europeans non‐Finnish Alleles (n): T:129,158; NN:103,136; C:48,282 |
Europeans Finnish Alleles (n): T: 25,188; NN: 17,846; C: 14,504 |
Africans Alleles (n): T: 24,968; NN: 19,600; C: 9,736 |
Latin Americans Alleles (n): T: 35,436; NN: 31,074; C:17,354 |
Asian Alleles (n): T: 50,568; NN: 45,582; C: 25,652 |
Ashkenazi Jewish Alleles (n): T: 10,370; NN: 6,458; C: 2,358 |
Others Alleles (n): T: 7,224; NN: 5,712; C: 2,406 |
TOTAL a (allele frequency) Alleles (n): 282,912 |
NON‐NEURO GROUP (allele frequency) Alleles (n) 229,408 |
CONTROL GROUP ONLY (allele frequency) Alleles (n) 120,292 |
|
|---|---|---|---|---|---|---|---|---|---|---|---|
| p.Arg336Cys (c.1006 C>T) | T: 0.00004417; NN: 0.00003365; C: 0.00002341 | — | — | — | — | — | — | 0.00001994 | 0.00001445 | 0.00000915 | |
| p.Ile278Thr (c.833 T>C) | T: 0.00143200; NN: 0.00154900; C: 0.00091170 |
T: 0.00057600 NN: — C: — |
T: 0.00023230; NN: — C: — |
— | — | — | — | 0.00083270 | 0.00099240 | 0.00046250. | |
| p.Gly307Ser (c.919 G>A) | T: 0.00031740; NN: 0.00037810; C: 0.00031070 | T: 0.00003989; NN: 0.00005603; C: 0.00006895 | T: 0.00008010; NN: 0.00010200; C: 0.00020540 | — | — | — | T: 0.00041530; NN: 0.00035740; C: 0.00042810 | 0.00016620 | 0.00019190 | 0.00015800 | |
| p.Thr191Met (c.572 C>T) | — | — | — | T: 0.00037700; NN: 0.00036150; C: 0.00023440 | — | — | 0.00032890; 0.00020680 | 0.00006023 | 0.00005790 | 0.00003663 | |
| p.Trp323Ter (c.969 G>A) | — | — | — | — | T: 0.00003270; NN: 0.00003271; C: 0.00006380 | — | — | 0.00000399 | 0.00000482 | 0.00000915 | |
| c.1224‐2 A>C | T: 0.00004088; NN: 0.00002584; C: 0.00002739 | — | — | — | — | T: 0.00138800; NN: 0.00162200; C: 0.00051230 | — | 0.00007850 | 0.00006121 | 0.00002173 | |
| p.Asp444Asn (c.1330 G>A) | T: 0.00026390; NN 0.00026010; C 0.00031750 |
T: 0.00005424 NN: — C: — |
T: 0.00021710; NN: 0.00022950; C: 0.00033460 | T: 0.00126600; NN: 0.00066670; C: 0.00067920 | — | — | T: 0.00052580; NN: 0.00022420; C: 0.00053940 | 0.00032120 | 0.00022680 | 0.00025970 | |
| p.Ala114Val (c.341 C>T) | T: 0.00035680; NN: 0.00039820; C: 0.00033150 | — | T: 0.00008024; NN: 0.00010220; C: 0.00010280 | T: 0.00028230; NN: 0.00032190; C: 0.00051870 | T: 0.00013296; NN: 0.00016637; C: 0.00010040 | — | — | 0.00021600 | 0.00024460 | 0.00022490 | |
| p.Arg125Gln (c.374 G>A) | T: 0.00002326; NN: 0.00001942; C: 0.00018180 | — | — | — | — | — | — | 0.00001062 | 0.00000874 | 0.00009213 | |
| p.Thr353Met (c.1058 C>T) | — | — | T: 0.00029160; NN: 0.00039310; C: 0.00014530 | T: 0.00002840; NN: 0.00003299; C: — | — | — | — | 0.00002973 | 0.00003571 | 0.00000988 | |
| p.Arg266Lys (c.797 G>A) | T: 0.00001772; NN: 0.00001125; C: 0.00002345 | — | — | — | — | — | — | 0.00000801 | 0.00000484 | 0.00000918 | |
| p.Lys523Serfs (c.1566delG) | — | — | — | — | — | — | — | — | — | — | |
| p.Glu144Lys (c.430 G>A) | T: 0.00003882; NN: 0.00004863; C: 0.00002340 | — | T: 0.00004020; NN: 0.00005118; C: 0.00014010 | — | T: 0.00009799; NN: 0.00009802; C: 0.00006374 | — | — | 0.00003198 | 0.00003947 | 0.00002767 | |
| p.Cys165Tyr (c.494 G>A) | — | — | — | — | — | — | — | — | — | — | |
| p.Thr257Met (c.770 C>T) | T: 0.00001564; NN: 0.00001956; C: 0.00002084 | — | T: 0.00004065; NN: 0.00005195; C: 0.00010540 | T: 0.00011340; NN: 0.00009706; C: 0.00011580 | T: 0.00013230; NN: 0.00013230; C: 0.00006450 | — | T: 0.00013960; NN: 0.00018030; C: — | 0.00004286 | 0.00004840 | 0.00004191 | |
| p.Arg121His (c.362 G>A) | T: 0.00002325; NN: 0.00001942; C: — | — | T: 0.00024090; NN: 0.00030650; C: 0.00041110 | — | — | — | — | 0.00003187 | 0.00003494 | 0.00003332 | |
| p.Val320Ala (c.959T>C) | T: 0.00003539; NN: 0.00004496; C: 0.00007028 | — | — | — | — | — | — | 0.00001598 | 0.00001930 | 0.00002747 | |
| p.Gly85Arg (c.253 G>A) | T: 0.00000879; NN: 0.00001117; C: 0.00002338 | — | — | — | — | — | — | 0.00000398 | 0.00000481 | 0.00000914 | |
| p.Gly151Arg (c.451 G>A) | T: 0.00002335; NN: 0.00002926; C: — | — |
T: 0.00008055; NN: — C: — |
T: 0.00002825; NN: 0.00003221; C: — | — | — | — | 0.00002142 | 0.00001764 | — | |
| p.Leu101Pro (c.302 T>C) | — | — | — | — | — | — | — | — | — | — | |
| p.Thr262Met (c.785C>T) | T: 0.00001772; NN: 0.00002251; C: — | T: 0.00014060; NN: 0.00018040; C: 0.00022560 | T: 0.00006242; NN: 0.00006257; C: — | — | — | — |
T: 0.00016400; NN: 0.00020700 C: — |
0.00002804 | 0.00003387 | 0.00002757 | |
| p.Gln7Profs (c.19dupC) | — | — | — | — | T: 0.00005473; NN: 0.00013130; C: 0.00006401 | — | — | 0.00001645 | 0.00000498 | 0.00000922 | |
| p.Ala226Thr (c.676G>A) | — | — | — | — | — | — | — | — | — | — | |
| p.Lys441Ter (c.1321A>T) | — | — | — | — | — | — | — | — | — | — | |
| p.Gly148Arg (c.442G>A) | T: 0.000008825; NN: 0.00001122; C: 0.00002341 | — | T: 0.00006176; NN: 0.00006190; C: — | T: 0.00002893; NN: 0.00003278; C: 0.00005849 | — | — | — | 0.00001202 | 0.00001455 | 0.00001853 | |
| TOTAL | T: 0.00267672; NN: 0.00288229; C: 0.00228876 | T: 0.00085693; NN: 0.00023643; C: 0.00029455 | T: 0.00142782; NN: 0.00136090; C: 0.00144470 | T: 0.00212428; NN: 0.00154514; C: 0.00160659 | T: 0.00045068; NN: 0.00056070; C: 0.00035645 | T: 0.00138800; NN: 0.00162200; C: 0.00051230 | T: 0.0015736; NN: 0.00117570; C: 0.00096750 | 0.00195171 | 0.00206131 | 0.00148778 | |
| Incidence of HCU per 100,000 individuals | T: ~ 0.72; NN: ~0.83; C: ~0.52 | T: ~ 0.07; NN: ~0.005; C: ~0.008 | T: ~ 0.20; NN: ~0.18; C: ~0.21 | T: ~ 0.45; NN: ~0.24; C: ~0.26 | T: ~ 0.02; NN: ~0,03; C: ~0.01 | T: ~0.19; NN: ~0.26; C: ~0.02 | T: ~0.25; NN: ~0.14; C: ~0.09 | ~ 0.38 | ~0.42 | ~0.22 | |
—, no alleles found.
a
The total population in gnomAD (T) includes the following subgroups, which may overlap: controls (C), non‐cancer, non‐neuro (NN) and non‐TOPMed.