| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138091822C>A | CA369359294 | AKR1D1 | c.316C>A (p.Leu106Ile) c.148C>A (p.Leu50Ile) n.226C>A | |
| 7 | g.138091822C= | CA1746468631 | AKR1D1 | c.316C= (p.Leu106=) c.148C= (p.Leu50=) n.226C= | |
| 7 | g.138091822C>G | CA369359295 | AKR1D1 | c.316C>G (p.Leu106Val) c.148C>G (p.Leu50Val) n.226C>G | |
| 7 | g.138091822C>T | CA117467 | AKR1D1 | c.316C>T (p.Leu106Phe) c.148C>T (p.Leu50Phe) n.226C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138091823T>A | CA369359296 | AKR1D1 | c.317T>A (p.Leu106His) c.149T>A (p.Leu50His) n.227T>A | |
| 7 | g.138091823T>C | CA369359297 | AKR1D1 | c.317T>C (p.Leu106Pro) c.149T>C (p.Leu50Pro) n.227T>C | |
| 7 | g.138091823T>G | CA369359298 | AKR1D1 | c.317T>G (p.Leu106Arg) c.149T>G (p.Leu50Arg) n.227T>G | |
| 7 | g.138091824C>A | CA4502653 | AKR1D1 | c.318C>A (p.Leu106=) c.150C>A (p.Leu50=) n.228C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138091824C= | CA1746468632 | AKR1D1 | c.318C= (p.Leu106=) c.150C= (p.Leu50=) n.228C= | |
| 7 | g.138091824C>G | CA457915350 | AKR1D1 | c.318C>G (p.Leu106=) c.150C>G (p.Leu50=) n.228C>G | |
| 7 | g.138091824C>T | CA4502652 | AKR1D1 | c.318C>T (p.Leu106=) c.150C>T (p.Leu50=) n.228C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138091825A>C | CA457915351 | AKR1D1 | c.319A>C (p.Arg107=) c.151A>C (p.Arg51=) n.229A>C | |
| 7 | g.138091825A>G | CA369359299 | AKR1D1 | c.319A>G (p.Arg107Gly) c.151A>G (p.Arg51Gly) n.229A>G | |
| 7 | g.138091825A>T | CA369359300 | AKR1D1 | c.319A>T (p.Arg107Trp) c.151A>T (p.Arg51Trp) n.229A>T | |
| 7 | g.138091826G>A | CA369359302 | AKR1D1 | c.320G>A (p.Arg107Lys) c.152G>A (p.Arg51Lys) n.230G>A | gnomAD v4 |
| 7 | g.138091826G>C | CA369359303 | AKR1D1 | c.320G>C (p.Arg107Thr) c.152G>C (p.Arg51Thr) n.230G>C | gnomAD v4 |
| 7 | g.138091826G>T | CA369359301 | AKR1D1 | c.320G>T (p.Arg107Met) c.152G>T (p.Arg51Met) n.230G>T | |
| 7 | g.138091827G>A | CA457915353 | AKR1D1 | c.321G>A (p.Arg107=) c.153G>A (p.Arg51=) n.231G>A | |
| 7 | g.138091827G>C | CA369359304 | AKR1D1 | c.321G>C (p.Arg107Ser) c.153G>C (p.Arg51Ser) n.231G>C | |
| 7 | g.138091827G>T | CA369359305 | AKR1D1 | c.321G>T (p.Arg107Ser) c.153G>T (p.Arg51Ser) n.231G>T | |
| 7 | g.138091828G>A | CA369359306 | AKR1D1 | c.322G>A (p.Val108Ile) c.154G>A (p.Val52Ile) n.232G>A | |
| 7 | g.138091828G>C | CA369359307 | AKR1D1 | c.322G>C (p.Val108Leu) c.154G>C (p.Val52Leu) n.232G>C | |
| 7 | g.138091828G>T | CA369359308 | AKR1D1 | c.322G>T (p.Val108Phe) c.154G>T (p.Val52Phe) n.232G>T | |
| 7 | g.138091829T>A | CA369359309 | AKR1D1 | c.323T>A (p.Val108Asp) c.155T>A (p.Val52Asp) n.233T>A | |
| 7 | g.138091829T>C | CA4502654 | AKR1D1 | c.323T>C (p.Val108Ala) c.155T>C (p.Val52Ala) n.233T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138091829T>G | CA369359310 | AKR1D1 | c.323T>G (p.Val108Gly) c.155T>G (p.Val52Gly) n.233T>G | |
| 7 | g.138091829T= | CA1746468633 | AKR1D1 | c.323T= (p.Val108=) c.155T= (p.Val52=) n.233T= | |
| 7 | g.138091830C>A | CA457915357 | AKR1D1 | c.324C>A (p.Val108=) c.156C>A (p.Val52=) n.234C>A | |
| 7 | g.138091830C= | CA1746468634 | AKR1D1 | c.324C= (p.Val108=) c.156C= (p.Val52=) n.234C= | |
| 7 | g.138091830C>G | CA457915360 | AKR1D1 | c.324C>G (p.Val108=) c.156C>G (p.Val52=) n.234C>G | |
| 7 | g.138091830C>T | CA4502655 | AKR1D1 | c.324C>T (p.Val108=) c.156C>T (p.Val52=) n.234C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.138091831C>A | CA369359311 | AKR1D1 | c.325C>A (p.Leu109Ile) c.157C>A (p.Leu53Ile) n.235C>A | |
| 7 | g.138091831C>G | CA369359312 | AKR1D1 | c.325C>G (p.Leu109Val) c.157C>G (p.Leu53Val) n.235C>G | |
| 7 | g.138091831C>T | CA369359313 | AKR1D1 | c.325C>T (p.Leu109Phe) c.157C>T (p.Leu53Phe) n.235C>T | |
| 7 | g.138091832T>A | CA369359316 | AKR1D1 | c.326T>A (p.Leu109His) c.158T>A (p.Leu53His) n.236T>A | |
| 7 | g.138091832T>C | CA369359314 | AKR1D1 | c.326T>C (p.Leu109Pro) c.158T>C (p.Leu53Pro) n.236T>C | |
| 7 | g.138091832T>G | CA369359315 | AKR1D1 | c.326T>G (p.Leu109Arg) c.158T>G (p.Leu53Arg) n.236T>G | |
| 7 | g.138091833C>A | CA457915361 | AKR1D1 | c.327C>A (p.Leu109=) c.159C>A (p.Leu53=) n.237C>A | COSMIC |
| 7 | g.138091833C>G | CA457915362 | AKR1D1 | c.327C>G (p.Leu109=) c.159C>G (p.Leu53=) n.237C>G | |
| 7 | g.138091833C>T | CA457915364 | AKR1D1 | c.327C>T (p.Leu109=) c.159C>T (p.Leu53=) n.237C>T | gnomAD v4 |
| 7 | g.138091834C>A | CA369359317 | AKR1D1 | c.328C>A (p.Gln110Lys) c.160C>A (p.Gln54Lys) n.238C>A | |
| 7 | g.138091834C>G | CA369359318 | AKR1D1 | c.328C>G (p.Gln110Glu) c.160C>G (p.Gln54Glu) n.238C>G | |
| 7 | g.138091834C>T | CA369359319 | AKR1D1 | c.328C>T (p.Gln110Ter) c.160C>T (p.Gln54Ter) n.238C>T | |
| 7 | g.138091835A= | CA1746468635 | AKR1D1 | c.329A= (p.Gln110=) c.161A= (p.Gln54=) n.239A= | |
| 7 | g.138091835A>C | CA369359320 | AKR1D1 | c.329A>C (p.Gln110Pro) c.161A>C (p.Gln54Pro) n.239A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138091835A>G | CA369359321 | AKR1D1 | c.329A>G (p.Gln110Arg) c.161A>G (p.Gln54Arg) n.239A>G | gnomAD v4 |
| 7 | g.138091835A>T | CA369359322 | AKR1D1 | c.329A>T (p.Gln110Leu) c.161A>T (p.Gln54Leu) n.239A>T | gnomAD v4 |
| 7 | g.138091837_138091840del | CA2579033691 | AKR1D1 | c.331_334del (p.Leu111IlefsTer?) c.163_166del (p.Leu55IlefsTer?) n.241_244del | |
| 7 | g.138091836G>A | CA457915365 | AKR1D1 | c.330G>A (p.Gln110=) c.162G>A (p.Gln54=) n.240G>A | |
| 7 | g.138091836G>C | CA369359323 | AKR1D1 | c.330G>C (p.Gln110His) c.162G>C (p.Gln54His) n.240G>C |