| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2097227G>A | CA16620107 | PKD1 | c.10420C>T (p.Gln3474Ter) c.10417C>T (p.Gln3473Ter) c.4982C>T (n.4982C>T) c.7375C>T (p.Gln2459Ter) c.10498C>T (p.Gln3500Ter) c.10495C>T (p.Gln3499Ter) c.10480C>T (p.Gln3494Ter) c.10474C>T (p.Gln3492Ter) c.10471C>T (p.Gln3491Ter) c.10444C>T (p.Gln3482Ter) c.10426C>T (p.Gln3476Ter) c.10372C>T (p.Gln3458Ter) c.10291C>T (p.Gln3431Ter) c.10234C>T (p.Gln3412Ter) c.8320C>T (p.Gln2774Ter) c.7498C>T (p.Gln2500Ter) n.10513C>T c.10540C>T (p.Gln3514Ter) c.10468C>T (p.Gln3490Ter) c.10330C>T (p.Gln3444Ter) c.8416C>T (p.Gln2806Ter) | ClinVar dbSNP |
| 16 | g.2097227G= | CA2202033642 | PKD1 | c.10420C= (p.Gln3474=) c.10417C= (p.Gln3473=) c.4982C= (n.4982C=) c.7375C= (p.Gln2459=) c.10498C= (p.Gln3500=) c.10495C= (p.Gln3499=) c.10480C= (p.Gln3494=) c.10474C= (p.Gln3492=) c.10471C= (p.Gln3491=) c.10444C= (p.Gln3482=) c.10426C= (p.Gln3476=) c.10372C= (p.Gln3458=) c.10291C= (p.Gln3431=) c.10234C= (p.Gln3412=) c.8320C= (p.Gln2774=) c.7498C= (p.Gln2500=) n.10513C= c.10540C= (p.Gln3514=) c.10468C= (p.Gln3490=) c.10330C= (p.Gln3444=) c.8416C= (p.Gln2806=) | dbSNP |