| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.56605753T>A | CA3869151 | DST | c.4650+4674A>T (n.4650+4674A>T) c.5184+4674A>T (n.5184+4674A>T) c.4770+4674A>T (n.4770+4674A>T) c.4998+4674A>T (n.4998+4674A>T) c.8875A>T (p.Thr2959Ser) c.3672+4674A>T (n.3672+4674A>T) c.8242A>T (p.Thr2748Ser) c.7264A>T (p.Thr2422Ser) c.8776A>T (p.Thr2926Ser) c.8590A>T (p.Thr2864Ser) c.8461A>T (p.Thr2821Ser) c.8362A>T (p.Thr2788Ser) c.8341A>T (p.Thr2781Ser) c.8320A>T (p.Thr2774Ser) c.8803A>T (p.Thr2935Ser) c.5211+4674A>T (n.5211+4674A>T) c.8902A>T (p.Thr2968Ser) c.8839A>T (p.Thr2947Ser) c.8278A>T (p.Thr2760Ser) c.3469A>T (p.Thr1157Ser) c.5310+4674A>T (n.5310+4674A>T) c.8221A>T (p.Thr2741Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.56605753T>C | CA3869152 | DST | c.4650+4674A>G (n.4650+4674A>G) c.5184+4674A>G (n.5184+4674A>G) c.4770+4674A>G (n.4770+4674A>G) c.4998+4674A>G (n.4998+4674A>G) c.8875A>G (p.Thr2959Ala) c.3672+4674A>G (n.3672+4674A>G) c.8242A>G (p.Thr2748Ala) c.7264A>G (p.Thr2422Ala) c.8776A>G (p.Thr2926Ala) c.8590A>G (p.Thr2864Ala) c.8461A>G (p.Thr2821Ala) c.8362A>G (p.Thr2788Ala) c.8341A>G (p.Thr2781Ala) c.8320A>G (p.Thr2774Ala) c.8803A>G (p.Thr2935Ala) c.5211+4674A>G (n.5211+4674A>G) c.8902A>G (p.Thr2968Ala) c.8839A>G (p.Thr2947Ala) c.8278A>G (p.Thr2760Ala) c.3469A>G (p.Thr1157Ala) c.5310+4674A>G (n.5310+4674A>G) c.8221A>G (p.Thr2741Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |