| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.76347126G>A | CA6694273 | BBS10 | c.859C>T (p.Gln287Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.76347126G>C | CA385813888 | BBS10 | c.859C>G (p.Gln287Glu) | |
| 12 | g.76347126G= | CA2047353630 | BBS10 | c.859C= (p.Gln287=) | |
| 12 | g.76347126G>T | CA385813887 | BBS10 | c.859C>A (p.Gln287Lys) | gnomAD v4 |
| 12 | g.76347128_76347129dup | CA16041584 | BBS10 | c.858_859dup (p.Gln287LeufsTer12) | ClinVar dbSNP gnomAD v2 |
| 12 | g.76347127A= | CA2047353631 | BBS10 | c.858T= (p.Ser286=) | |
| 12 | g.76347127A>C | CA481011413 | BBS10 | c.858T>G (p.Ser286=) | |
| 12 | g.76347127A>G | CA481011415 | BBS10 | c.858T>C (p.Ser286=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76347127A>T | CA481011417 | BBS10 | c.858T>A (p.Ser286=) | |
| 12 | g.76347128G>A | CA385813889 | BBS10 | c.857C>T (p.Ser286Phe) | |
| 12 | g.76347128G>C | CA385813890 | BBS10 | c.857C>G (p.Ser286Cys) | gnomAD v4 |
| 12 | g.76347128G>T | CA385813891 | BBS10 | c.857C>A (p.Ser286Tyr) | gnomAD v4 |
| 12 | g.76347129A= | CA2047353632 | BBS10 | c.856T= (p.Ser286=) | |
| 12 | g.76347129A>C | CA385813892 | BBS10 | c.856T>G (p.Ser286Ala) | |
| 12 | g.76347129A>G | CA385813893 | BBS10 | c.856T>C (p.Ser286Pro) | dbSNP gnomAD v4 |
| 12 | g.76347129A>T | CA385813894 | BBS10 | c.856T>A (p.Ser286Thr) | |
| 12 | g.76347130T>A | CA481011420 | BBS10 | c.855A>T (p.Thr285=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.76347130T>C | CA481011422 | BBS10 | c.855A>G (p.Thr285=) | |
| 12 | g.76347130T>G | CA481011423 | BBS10 | c.855A>C (p.Thr285=) | |
| 12 | g.76347130T= | CA2047353633 | BBS10 | c.855A= (p.Thr285=) | |
| 12 | g.76347131G>A | CA385813895 | BBS10 | c.854C>T (p.Thr285Ile) | gnomAD v4 |
| 12 | g.76347131G>C | CA385813896 | BBS10 | c.854C>G (p.Thr285Arg) | |
| 12 | g.76347131G>T | CA385813897 | BBS10 | c.854C>A (p.Thr285Lys) | |
| 12 | g.76347132T>A | CA385813898 | BBS10 | c.853A>T (p.Thr285Ser) | |
| 12 | g.76347132T>C | CA385813899 | BBS10 | c.853A>G (p.Thr285Ala) | |
| 12 | g.76347132T>G | CA385813900 | BBS10 | c.853A>C (p.Thr285Pro) | |
| 12 | g.76347133C>A | CA385813902 | BBS10 | c.852G>T (p.Gln284His) | gnomAD v4 |
| 12 | g.76347133C= | CA2047353634 | BBS10 | c.852G= (p.Gln284=) | |
| 12 | g.76347133C>G | CA385813901 | BBS10 | c.852G>C (p.Gln284His) | COSMIC |
| 12 | g.76347133C>T | CA481011430 | BBS10 | c.852G>A (p.Gln284=) | dbSNP |
| 12 | g.76347134T>A | CA385813903 | BBS10 | c.851A>T (p.Gln284Leu) | |
| 12 | g.76347134T>C | CA6694274 | BBS10 | c.851A>G (p.Gln284Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.76347134T>G | CA385813904 | BBS10 | c.851A>C (p.Gln284Pro) | |
| 12 | g.76347134T= | CA2047353635 | BBS10 | c.851A= (p.Gln284=) | |
| 12 | g.76347135G>A | CA6694275 | BBS10 | c.850C>T (p.Gln284Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76347135G>C | CA385813905 | BBS10 | c.850C>G (p.Gln284Glu) | |
| 12 | g.76347135G= | CA2047353636 | BBS10 | c.850C= (p.Gln284=) | |
| 12 | g.76347135G>T | CA385813906 | BBS10 | c.850C>A (p.Gln284Lys) | gnomAD v4 |
| 12 | g.76347136A>C | CA385813907 | BBS10 | c.849T>G (p.Phe283Leu) | |
| 12 | g.76347136A>G | CA481011438 | BBS10 | c.849T>C (p.Phe283=) | |
| 12 | g.76347136A>T | CA385813908 | BBS10 | c.849T>A (p.Phe283Leu) | |
| 12 | g.76347137A>C | CA385813909 | BBS10 | c.848T>G (p.Phe283Cys) | |
| 12 | g.76347137A>G | CA385813910 | BBS10 | c.848T>C (p.Phe283Ser) | |
| 12 | g.76347137A>T | CA385813911 | BBS10 | c.848T>A (p.Phe283Tyr) | |
| 12 | g.76347138A>C | CA385813912 | BBS10 | c.847T>G (p.Phe283Val) | |
| 12 | g.76347138A>G | CA385813913 | BBS10 | c.847T>C (p.Phe283Leu) | gnomAD v4 |
| 12 | g.76347138A>T | CA385813914 | BBS10 | c.847T>A (p.Phe283Ile) | |
| 12 | g.76347139C>A | CA385813915 | BBS10 | c.846G>T (p.Gln282His) | |
| 12 | g.76347139C= | CA2047353637 | BBS10 | c.846G= (p.Gln282=) | |
| 12 | g.76347139C>G | CA385813916 | BBS10 | c.846G>C (p.Gln282His) |