Gene | Nucleotide | Protein | Frequency (ESP)a | Frequency (ExAC)b |
---|---|---|---|---|
SDHB | c.18C > A | p.Ala6Ala | 2.70 % | 2.99 % |
SDHB | c.24C > Tc | p.Ser8Ser | 0.76 % | 0.65 % |
SDHB | c.200 + 33G > A | - | 7.79 % | 8.42 % |
SDHB | c.200 + 35G > A | - | 3.74 % | 3.93 % |
SDHB | c.201-36G > T | - | 97.38 % | 96.99 % |
SDHB | c.487T > C | p.Ser163Pro | 1.30 % | 1.52 % |
SDHC | c.20 + 11_20 + 12dup | - | 6.25 % | 6.37 % |
SDHC | c.77 + 36T > A | - | 2.08 % | 2.44 % |
SDHC | c.77 + 43del | - | - | 3.15 % |
SDHC | c.77 + 48C > T | - | 5.31 % | 4.69 % |
SDHC | c.406-14del | - | - | 41.08 % |
SDHD | c.170-29A > G | - | 1.28 % | 1.16 % |
SDHD | c.204C > T | p.Ser68Ser | 1.28 % | 1.16 % |
SDHD | c.315-32T > C | - | 1.25 % | 1.17 % |