| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.119811625del | CA2667142915 | NR1I2 | c.418del (p.Val140CysfsTer4) c.535del (p.Val179CysfsTer4) n.550del | gnomAD v4 |
| 3 | g.119811625G>A | CA2557851 | NR1I2 | c.418G>A (p.Val140Met) c.535G>A (p.Val179Met) n.550G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811625G>C | CA354058171 | NR1I2 | c.418G>C (p.Val140Leu) c.535G>C (p.Val179Leu) n.550G>C | |
| 3 | g.119811625G= | CA1396725552 | NR1I2 | c.418G= (p.Val140=) c.535G= (p.Val179=) n.550G= | |
| 3 | g.119811625G>T | CA354058168 | NR1I2 | c.418G>T (p.Val140Leu) c.535G>T (p.Val179Leu) n.550G>T | |
| 3 | g.119811625_119811634delinsGTGCAGGGGC | CA1396725553 | NR1I2 | c.418_427delinsGTGCAGGGGC (p.Val140=) c.535_544delinsGTGCAGGGGC (p.Val179=) n.550_559delinsGTGCAGGGGC | |
| 3 | g.119811626T>A | CA354058175 | NR1I2 | c.419T>A (p.Val140Glu) c.536T>A (p.Val179Glu) n.551T>A | |
| 3 | g.119811626T>C | CA354058182 | NR1I2 | c.419T>C (p.Val140Ala) c.536T>C (p.Val179Ala) n.551T>C | |
| 3 | g.119811626T>G | CA2557853 | NR1I2 | c.419T>G (p.Val140Gly) c.536T>G (p.Val179Gly) n.551T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119811626T= | CA1396725554 | NR1I2 | c.419T= (p.Val140=) c.536T= (p.Val179=) n.551T= | |
| 3 | g.119811626dup | CA2667142916 | NR1I2 | c.419dup (p.Gln141AlafsTer23) c.536dup (p.Gln180AlafsTer23) n.551dup | gnomAD v4 |
| 3 | g.119811628_119811636del | CA2557852 | NR1I2 | c.421_429del (p.Gln141_Leu143del) c.538_546del (p.Gln180_Leu182del) n.553_561del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811627G>A | CA435220188 | NR1I2 | c.420G>A (p.Val140=) c.537G>A (p.Val179=) n.552G>A | |
| 3 | g.119811627G>C | CA435220189 | NR1I2 | c.420G>C (p.Val140=) c.537G>C (p.Val179=) n.552G>C | |
| 3 | g.119811627G>T | CA435220190 | NR1I2 | c.420G>T (p.Val140=) c.537G>T (p.Val179=) n.552G>T | |
| 3 | g.119811628C>A | CA354058192 | NR1I2 | c.421C>A (p.Gln141Lys) c.538C>A (p.Gln180Lys) n.553C>A | gnomAD v4 COSMIC |
| 3 | g.119811628C= | CA1396725555 | NR1I2 | c.421C= (p.Gln141=) c.538C= (p.Gln180=) n.553C= | |
| 3 | g.119811628C>G | CA2557854 | NR1I2 | c.421C>G (p.Gln141Glu) c.538C>G (p.Gln180Glu) n.553C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811628C>T | CA354058193 | NR1I2 | c.421C>T (p.Gln141Ter) c.538C>T (p.Gln180Ter) n.553C>T | |
| 3 | g.119811629A>C | CA354058199 | NR1I2 | c.422A>C (p.Gln141Pro) c.539A>C (p.Gln180Pro) n.554A>C | |
| 3 | g.119811629A>G | CA354058202 | NR1I2 | c.422A>G (p.Gln141Arg) c.539A>G (p.Gln180Arg) n.554A>G | |
| 3 | g.119811629A>T | CA354058204 | NR1I2 | c.422A>T (p.Gln141Leu) c.539A>T (p.Gln180Leu) n.554A>T | |
| 3 | g.119811630G>A | CA435220191 | NR1I2 | c.423G>A (p.Gln141=) c.540G>A (p.Gln180=) n.555G>A | |
| 3 | g.119811630G>C | CA354058208 | NR1I2 | c.423G>C (p.Gln141His) c.540G>C (p.Gln180His) n.555G>C | |
| 3 | g.119811630G>T | CA354058210 | NR1I2 | c.423G>T (p.Gln141His) c.540G>T (p.Gln180His) n.555G>T | |
| 3 | g.119811631G>A | CA354058211 | NR1I2 | c.424G>A (p.Gly142Arg) c.541G>A (p.Gly181Arg) n.556G>A | |
| 3 | g.119811631G>C | CA354058213 | NR1I2 | c.424G>C (p.Gly142Arg) c.541G>C (p.Gly181Arg) n.556G>C | |
| 3 | g.119811631G= | CA1396725556 | NR1I2 | c.424G= (p.Gly142=) c.541G= (p.Gly181=) n.556G= | |
| 3 | g.119811631G>T | CA2557855 | NR1I2 | c.424G>T (p.Gly142Trp) c.541G>T (p.Gly181Trp) n.556G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119811632G>A | CA354058214 | NR1I2 | c.425G>A (p.Gly142Glu) c.542G>A (p.Gly181Glu) n.557G>A | gnomAD v4 |
| 3 | g.119811632G>C | CA354058215 | NR1I2 | c.425G>C (p.Gly142Ala) c.542G>C (p.Gly181Ala) n.557G>C | |
| 3 | g.119811632G>T | CA354058219 | NR1I2 | c.425G>T (p.Gly142Val) c.542G>T (p.Gly181Val) n.557G>T | |
| 3 | g.119811633G>A | CA2557856 | NR1I2 | c.426G>A (p.Gly142=) c.543G>A (p.Gly181=) n.558G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811633G>C | CA435220192 | NR1I2 | c.426G>C (p.Gly142=) c.543G>C (p.Gly181=) n.558G>C | |
| 3 | g.119811633G= | CA1396725557 | NR1I2 | c.426G= (p.Gly142=) c.543G= (p.Gly181=) n.558G= | |
| 3 | g.119811633G>T | CA435220193 | NR1I2 | c.426G>T (p.Gly142=) c.543G>T (p.Gly181=) n.558G>T | |
| 3 | g.119811634C>A | CA354058223 | NR1I2 | c.427C>A (p.Leu143Met) c.544C>A (p.Leu182Met) n.559C>A | |
| 3 | g.119811634C>G | CA354058225 | NR1I2 | c.427C>G (p.Leu143Val) c.544C>G (p.Leu182Val) n.559C>G | |
| 3 | g.119811634C>T | CA435220194 | NR1I2 | c.427C>T (p.Leu143=) c.544C>T (p.Leu182=) n.559C>T | |
| 3 | g.119811635T>A | CA354058227 | NR1I2 | c.428T>A (p.Leu143Gln) c.545T>A (p.Leu182Gln) n.560T>A | |
| 3 | g.119811635T>C | CA354058230 | NR1I2 | c.428T>C (p.Leu143Pro) c.545T>C (p.Leu182Pro) n.560T>C | |
| 3 | g.119811635T>G | CA354058232 | NR1I2 | c.428T>G (p.Leu143Arg) c.545T>G (p.Leu182Arg) n.560T>G | |
| 3 | g.119811636G>A | CA435220195 | NR1I2 | c.429G>A (p.Leu143=) c.546G>A (p.Leu182=) n.561G>A | |
| 3 | g.119811636G>C | CA435220196 | NR1I2 | c.429G>C (p.Leu143=) c.546G>C (p.Leu182=) n.561G>C | |
| 3 | g.119811636G>T | CA435220197 | NR1I2 | c.429G>T (p.Leu143=) c.546G>T (p.Leu182=) n.561G>T | |
| 3 | g.119811637A>C | CA354058234 | NR1I2 | c.430A>C (p.Thr144Pro) c.547A>C (p.Thr183Pro) n.562A>C | |
| 3 | g.119811637A>G | CA354058235 | NR1I2 | c.430A>G (p.Thr144Ala) c.547A>G (p.Thr183Ala) n.562A>G | |
| 3 | g.119811637A>T | CA354058236 | NR1I2 | c.430A>T (p.Thr144Ser) c.547A>T (p.Thr183Ser) n.562A>T | |
| 3 | g.119811638C>A | CA354058237 | NR1I2 | c.431C>A (p.Thr144Lys) c.548C>A (p.Thr183Lys) n.563C>A | |
| 3 | g.119811638C>G | CA354058238 | NR1I2 | c.431C>G (p.Thr144Arg) c.548C>G (p.Thr183Arg) n.563C>G |