| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688137G>A | CA123921 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1660C>T (p.Arg554Ter) c.950C>T (p.Ser317Leu) c.3441+16457G>A (n.3441+16457G>A) c.*404C>T (n.*404C>T) c.1579C>T (p.Arg527Ter) c.276+16457G>A (n.276+16457G>A) c.*220+6087C>T (n.*220+6087C>T) c.703C>T (p.Arg235Ter) c.730C>T (p.Arg244Ter) c.1585C>T (p.Arg529Ter) c.1399C>T (p.Arg467Ter) c.1318C>T (p.Arg440Ter) c.1024C>T (p.Arg342Ter) c.1405C>T (p.Arg469Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.48688137G>C | CA346745471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1660C>G (p.Arg554Gly) c.950C>G (p.Ser317Trp) c.3441+16457G>C (n.3441+16457G>C) c.*404C>G (n.*404C>G) c.1579C>G (p.Arg527Gly) c.276+16457G>C (n.276+16457G>C) c.*220+6087C>G (n.*220+6087C>G) c.703C>G (p.Arg235Gly) c.730C>G (p.Arg244Gly) c.1585C>G (p.Arg529Gly) c.1399C>G (p.Arg467Gly) c.1318C>G (p.Arg440Gly) c.1024C>G (p.Arg342Gly) c.1405C>G (p.Arg469Gly) | dbSNP gnomAD v4 |
| 2 | g.48688137G= | CA1248601004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1660C= (p.Arg554=) c.950C= (p.Ser317=) c.3441+16457G= (n.3441+16457G=) c.*404C= (n.*404C=) c.1579C= (p.Arg527=) c.276+16457G= (n.276+16457G=) c.*220+6087C= (n.*220+6087C=) c.703C= (p.Arg235=) c.730C= (p.Arg244=) c.1585C= (p.Arg529=) c.1399C= (p.Arg467=) c.1318C= (p.Arg440=) c.1024C= (p.Arg342=) c.1405C= (p.Arg469=) | dbSNP |