| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66531394G>T | CA320611 | TK2 | c.193C>A (p.His65Asn) c.307C>A (p.His103Asn) c.268C>A (p.His90Asn) c.305C>A c.70C>A (p.His24Asn) c.361C>A (p.His121Asn) c.*219C>A (n.*219C>A) c.286C>A (p.His96Asn) c.33-13517C>A c.76C>A (p.His26Asn) n.248C>A c.55-2327C>A (n.55-2327C>A) c.251C>A (n.251C>A) c.108C>A c.433C>A (p.His145Asn) c.487C>A (p.His163Asn) c.255C>A c.214C>A (p.His72Asn) n.1640C>A n.1350C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.66531394G>C | CA396190545 | TK2 | c.193C>G (p.His65Asp) c.307C>G (p.His103Asp) c.268C>G (p.His90Asp) c.305C>G c.70C>G (p.His24Asp) c.361C>G (p.His121Asp) c.*219C>G (n.*219C>G) c.286C>G (p.His96Asp) c.33-13517C>G c.76C>G (p.His26Asp) n.248C>G c.55-2327C>G (n.55-2327C>G) c.251C>G (n.251C>G) c.108C>G c.433C>G (p.His145Asp) c.487C>G (p.His163Asp) c.255C>G c.214C>G (p.His72Asp) n.1640C>G n.1350C>G | ClinVar dbSNP |
| 16 | g.66531394G= | CA2228912956 | TK2 | c.193C= (p.His65=) c.307C= (p.His103=) c.268C= (p.His90=) c.305C= c.70C= (p.His24=) c.361C= (p.His121=) c.*219C= (n.*219C=) c.286C= (p.His96=) c.33-13517C= c.76C= (p.His26=) n.248C= c.55-2327C= (n.55-2327C=) c.251C= (n.251C=) c.108C= c.433C= (p.His145=) c.487C= (p.His163=) c.255C= c.214C= (p.His72=) n.1640C= n.1350C= | dbSNP |