Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.121001155C>T | CA124466 | C12orf43,HNF1A | c.*606C>T (n.*606C>T) c.1859C>T (p.Thr620Ile) c.*2998G>A (n.*2998G>A) c.*1299C>T (n.*1299C>T) c.1952C>T (p.Thr651Ile) c.1322C>T (p.Thr441Ile) c.1880C>T (p.Thr627Ile) c.1676C>T c.647C>T (p.Thr216Ile) c.*268C>T (n.*268C>T) | ClinVar dbSNP |
12 | g.121001155C= | CA2067687593 | C12orf43,HNF1A | c.*606C= (n.*606C=) c.1859C= (p.Thr620=) c.*2998G= (n.*2998G=) c.*1299C= (n.*1299C=) c.1952C= (p.Thr651=) c.1322C= (p.Thr441=) c.1880C= (p.Thr627=) c.1676C= c.647C= (p.Thr216=) c.*268C= (n.*268C=) | dbSNP |