HGVS_ca | HGVS_pa | dbSNPb | ExACc | Polyphen-2d | CADDe | # Carriers | |
---|---|---|---|---|---|---|---|
Missense substitutions | c.156 T > G | p.Asp52Glu | . | 0.00002 | 0.001,B | 5.347 | 1 |
c.386G > A | p.Cys129Tyr | rs187203579 | 0.00009 | 0.914,D | 22.5 | 1 | |
c.1483G > C | p.Asp495His | rs6499 | 0.00520 | 0.05, B | 16.05 | 4 | |
c.1743 T > A | p.Asn581Lys | . | . | 0.009,B | 12.03 | 2 | |
Synonymous substitutions | c.87G > A | p.Thr29Thr | . | 0.00005 | 1 | ||
c.393 T > C | p.Asp131Asp | . | 1 | ||||
c.1536A > T | p.Pro512Pro | . | 0.00005 | 1 | |||
c.1731 T > C | p.Asn577Asn | rs6500 | 0.08850 | 67 | |||
c.1899A > G | p.Gln633Gln | rs61754415 | 0.08832 | 65 |