| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67159416A>C | CA145288 | GPHN | c.1838A>C (p.Asp613Ala) c.1739A>C (p.Asp580Ala) c.1877A>C (p.Asp626Ala) n.1886A>C c.314A>C (p.Asp105Ala) n.370-5746A>C n.451A>C c.1796A>C (p.Asp599Ala) c.2006A>C (p.Asp669Ala) c.1967A>C (p.Asp656Ala) c.1934A>C (p.Asp645Ala) c.1907A>C (p.Asp636Ala) c.1868A>C (p.Asp623Ala) c.1778A>C (p.Asp593Ala) c.989A>C (p.Asp330Ala) n.123-5566T>G n.789+760T>G c.1997A>C (p.Asp666Ala) c.1949A>C (p.Asp650Ala) c.1898A>C (p.Asp633Ala) c.1859A>C (p.Asp620Ala) c.1850A>C (p.Asp617Ala) c.1835A>C (p.Asp612Ala) c.1811A>C (p.Asp604Ala) c.1697A>C (p.Asp566Ala) c.1637A>C (p.Asp546Ala) c.1508A>C (p.Asp503Ala) c.1312+100630A>C (n.1312+100630A>C) c.917A>C (p.Asp306Ala) n.86-5566T>G | ClinVar dbSNP |
| 14 | g.67159416A= | CA3206741106 | GPHN | c.1838A= (p.Asp613=) c.1739A= (p.Asp580=) c.1877A= (p.Asp626=) n.1886A= c.314A= (p.Asp105=) n.370-5746A= n.451A= c.1796A= (p.Asp599=) c.2006A= (p.Asp669=) c.1967A= (p.Asp656=) c.1934A= (p.Asp645=) c.1907A= (p.Asp636=) c.1868A= (p.Asp623=) c.1778A= (p.Asp593=) c.989A= (p.Asp330=) n.123-5566T= n.789+760T= c.1997A= (p.Asp666=) c.1949A= (p.Asp650=) c.1898A= (p.Asp633=) c.1859A= (p.Asp620=) c.1850A= (p.Asp617=) c.1835A= (p.Asp612=) c.1811A= (p.Asp604=) c.1697A= (p.Asp566=) c.1637A= (p.Asp546=) c.1508A= (p.Asp503=) c.1312+100630A= (n.1312+100630A=) c.917A= (p.Asp306=) n.86-5566T= | dbSNP |