Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138091768C>A | CA369359133 | AKR1D1 | c.262C>A (p.Leu88Ile) c.94C>A (p.Leu32Ile) n.222-50C>A | gnomAD v4 |
7 | g.138091768C>G | CA369359135 | AKR1D1 | c.262C>G (p.Leu88Val) c.94C>G (p.Leu32Val) n.222-50C>G | |
7 | g.138091768C>T | CA457915289 | AKR1D1 | c.262C>T (p.Leu88=) c.94C>T (p.Leu32=) n.222-50C>T | |
7 | g.138091769T>A | CA369359140 | AKR1D1 | c.263T>A (p.Leu88Gln) c.95T>A (p.Leu32Gln) n.222-49T>A | gnomAD v4 |
7 | g.138091769T>C | CA369359139 | AKR1D1 | c.263T>C (p.Leu88Pro) c.95T>C (p.Leu32Pro) n.222-49T>C | |
7 | g.138091769T>G | CA369359138 | AKR1D1 | c.263T>G (p.Leu88Arg) c.95T>G (p.Leu32Arg) n.222-49T>G | |
7 | g.138091770A>C | CA457915290 | AKR1D1 | c.264A>C (p.Leu88=) c.96A>C (p.Leu32=) n.222-48A>C | |
7 | g.138091770A>G | CA457915291 | AKR1D1 | c.264A>G (p.Leu88=) c.96A>G (p.Leu32=) n.222-48A>G | gnomAD v4 COSMIC |
7 | g.138091770A>T | CA457915292 | AKR1D1 | c.264A>T (p.Leu88=) c.96A>T (p.Leu32=) n.222-48A>T | |
7 | g.138091771T>A | CA369359143 | AKR1D1 | c.265T>A (p.Trp89Arg) c.97T>A (p.Trp33Arg) n.222-47T>A | |
7 | g.138091771T>C | CA369359145 | AKR1D1 | c.265T>C (p.Trp89Arg) c.97T>C (p.Trp33Arg) n.222-47T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091771T>G | CA369359147 | AKR1D1 | c.265T>G (p.Trp89Gly) c.97T>G (p.Trp33Gly) n.222-47T>G | |
7 | g.138091771T= | CA1746468609 | AKR1D1 | c.265T= (p.Trp89=) c.97T= (p.Trp33=) n.222-47T= | |
7 | g.138091772G>A | CA369359149 | AKR1D1 | c.266G>A (p.Trp89Ter) c.98G>A (p.Trp33Ter) n.222-46G>A | gnomAD v4 |
7 | g.138091772G>C | CA369359150 | AKR1D1 | c.266G>C (p.Trp89Ser) c.98G>C (p.Trp33Ser) n.222-46G>C | |
7 | g.138091772G>T | CA369359152 | AKR1D1 | c.266G>T (p.Trp89Leu) c.98G>T (p.Trp33Leu) n.222-46G>T | COSMIC |
7 | g.138091773G>A | CA369359154 | AKR1D1 | c.267G>A (p.Trp89Ter) c.99G>A (p.Trp33Ter) n.222-45G>A | ClinVar dbSNP |
7 | g.138091773G>C | CA369359156 | AKR1D1 | c.267G>C (p.Trp89Cys) c.99G>C (p.Trp33Cys) n.222-45G>C | |
7 | g.138091773G= | CA1746468610 | AKR1D1 | c.267G= (p.Trp89=) c.99G= (p.Trp33=) n.222-45G= | |
7 | g.138091773G>T | CA369359158 | AKR1D1 | c.267G>T (p.Trp89Cys) c.99G>T (p.Trp33Cys) n.222-45G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091774G>A | CA369359160 | AKR1D1 | c.268G>A (p.Ala90Thr) c.100G>A (p.Ala34Thr) n.222-44G>A | gnomAD v4 |
7 | g.138091774G>C | CA369359161 | AKR1D1 | c.268G>C (p.Ala90Pro) c.100G>C (p.Ala34Pro) n.222-44G>C | |
7 | g.138091774G>T | CA369359164 | AKR1D1 | c.268G>T (p.Ala90Ser) c.100G>T (p.Ala34Ser) n.222-44G>T | |
7 | g.138091775C>A | CA369359170 | AKR1D1 | c.269C>A (p.Ala90Asp) c.101C>A (p.Ala34Asp) n.222-43C>A | |
7 | g.138091775C>G | CA369359168 | AKR1D1 | c.269C>G (p.Ala90Gly) c.101C>G (p.Ala34Gly) n.222-43C>G | |
7 | g.138091775C>T | CA369359166 | AKR1D1 | c.269C>T (p.Ala90Val) c.101C>T (p.Ala34Val) n.222-43C>T | |
7 | g.138091776T>A | CA457915293 | AKR1D1 | c.270T>A (p.Ala90=) c.102T>A (p.Ala34=) n.222-42T>A | |
7 | g.138091776T>C | CA457915294 | AKR1D1 | c.270T>C (p.Ala90=) c.102T>C (p.Ala34=) n.222-42T>C | |
7 | g.138091776T>G | CA457915295 | AKR1D1 | c.270T>G (p.Ala90=) c.102T>G (p.Ala34=) n.222-42T>G | |
7 | g.138091777A>C | CA369359171 | AKR1D1 | c.271A>C (p.Thr91Pro) c.103A>C (p.Thr35Pro) n.222-41A>C | |
7 | g.138091777A>G | CA369359173 | AKR1D1 | c.271A>G (p.Thr91Ala) c.103A>G (p.Thr35Ala) n.222-41A>G | COSMIC |
7 | g.138091777A>T | CA369359175 | AKR1D1 | c.271A>T (p.Thr91Ser) c.103A>T (p.Thr35Ser) n.222-41A>T | |
7 | g.138091778C>A | CA369359177 | AKR1D1 | c.272C>A (p.Thr91Lys) c.104C>A (p.Thr35Lys) n.222-40C>A | dbSNP gnomAD v2 |
7 | g.138091778C= | CA1746468611 | AKR1D1 | c.272C= (p.Thr91=) c.104C= (p.Thr35=) n.222-40C= | |
7 | g.138091778C>G | CA369359179 | AKR1D1 | c.272C>G (p.Thr91Arg) c.104C>G (p.Thr35Arg) n.222-40C>G | |
7 | g.138091778C>T | CA4502643 | AKR1D1 | c.272C>T (p.Thr91Ile) c.104C>T (p.Thr35Ile) n.222-40C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091779A>C | CA457915296 | AKR1D1 | c.273A>C (p.Thr91=) c.105A>C (p.Thr35=) n.222-39A>C | |
7 | g.138091779A>G | CA457915297 | AKR1D1 | c.273A>G (p.Thr91=) c.105A>G (p.Thr35=) n.222-39A>G | gnomAD v4 |
7 | g.138091779A>T | CA457915298 | AKR1D1 | c.273A>T (p.Thr91=) c.105A>T (p.Thr35=) n.222-39A>T | |
7 | g.138091780A>C | CA369359182 | AKR1D1 | c.274A>C (p.Asn92His) c.106A>C (p.Asn36His) n.222-38A>C | |
7 | g.138091780A>G | CA369359184 | AKR1D1 | c.274A>G (p.Asn92Asp) c.106A>G (p.Asn36Asp) n.222-38A>G | |
7 | g.138091780A>T | CA369359186 | AKR1D1 | c.274A>T (p.Asn92Tyr) c.106A>T (p.Asn36Tyr) n.222-38A>T | |
7 | g.138091781A>C | CA369359188 | AKR1D1 | c.275A>C (p.Asn92Thr) c.107A>C (p.Asn36Thr) n.222-37A>C | |
7 | g.138091781A>G | CA369359189 | AKR1D1 | c.275A>G (p.Asn92Ser) c.107A>G (p.Asn36Ser) n.222-37A>G | |
7 | g.138091781A>T | CA369359191 | AKR1D1 | c.275A>T (p.Asn92Ile) c.107A>T (p.Asn36Ile) n.222-37A>T | gnomAD v3 gnomAD v4 |
7 | g.138091782T>A | CA369359197 | AKR1D1 | c.276T>A (p.Asn92Lys) c.108T>A (p.Asn36Lys) n.222-36T>A | |
7 | g.138091782T>C | CA4502644 | AKR1D1 | c.276T>C (p.Asn92=) c.108T>C (p.Asn36=) n.222-36T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091782T>G | CA369359194 | AKR1D1 | c.276T>G (p.Asn92Lys) c.108T>G (p.Asn36Lys) n.222-36T>G | |
7 | g.138091782T= | CA1746468612 | AKR1D1 | c.276T= (p.Asn92=) c.108T= (p.Asn36=) n.222-36T= | |
7 | g.138091783C>A | CA369359199 | AKR1D1 | c.277C>A (p.His93Asn) c.109C>A (p.His37Asn) n.222-35C>A | |
7 | g.138091783C>G | CA369359203 | AKR1D1 | c.277C>G (p.His93Asp) c.109C>G (p.His37Asp) n.222-35C>G | |
7 | g.138091783C>T | CA369359201 | AKR1D1 | c.277C>T (p.His93Tyr) c.109C>T (p.His37Tyr) n.222-35C>T | gnomAD v4 |
7 | g.138091784del | CA2695208546 | AKR1D1 | c.278del (p.His93LeufsTer19) c.110del (p.His37LeufsTer19) n.222-34del | |
7 | g.138091784A= | CA1746468613 | AKR1D1 | c.278A= (p.His93=) c.110A= (p.His37=) n.222-34A= | |
7 | g.138091784A>C | CA369359205 | AKR1D1 | c.278A>C (p.His93Pro) c.110A>C (p.His37Pro) n.222-34A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091784A>G | CA369359207 | AKR1D1 | c.278A>G (p.His93Arg) c.110A>G (p.His37Arg) n.222-34A>G | COSMIC |
7 | g.138091784A>T | CA369359209 | AKR1D1 | c.278A>T (p.His93Leu) c.110A>T (p.His37Leu) n.222-34A>T | |
7 | g.138091785T>A | CA369359211 | AKR1D1 | c.279T>A (p.His93Gln) c.111T>A (p.His37Gln) n.222-33T>A | |
7 | g.138091785T>C | CA457915302 | AKR1D1 | c.279T>C (p.His93=) c.111T>C (p.His37=) n.222-33T>C | dbSNP |
7 | g.138091785T>G | CA369359213 | AKR1D1 | c.279T>G (p.His93Gln) c.111T>G (p.His37Gln) n.222-33T>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091785T= | CA1746468614 | AKR1D1 | c.279T= (p.His93=) c.111T= (p.His37=) n.222-33T= | |
7 | g.138091786G>A | CA369359215 | AKR1D1 | c.280G>A (p.Val94Ile) c.112G>A (p.Val38Ile) n.222-32G>A | |
7 | g.138091786G>C | CA369359217 | AKR1D1 | c.280G>C (p.Val94Leu) c.112G>C (p.Val38Leu) n.222-32G>C | |
7 | g.138091786G>T | CA369359219 | AKR1D1 | c.280G>T (p.Val94Phe) c.112G>T (p.Val38Phe) n.222-32G>T | |
7 | g.138091787T>A | CA369359221 | AKR1D1 | c.281T>A (p.Val94Asp) c.113T>A (p.Val38Asp) n.222-31T>A | |
7 | g.138091787T>C | CA369359223 | AKR1D1 | c.281T>C (p.Val94Ala) c.113T>C (p.Val38Ala) n.222-31T>C | dbSNP |
7 | g.138091787T>G | CA369359225 | AKR1D1 | c.281T>G (p.Val94Gly) c.113T>G (p.Val38Gly) n.222-31T>G | |
7 | g.138091787T= | CA1746468615 | AKR1D1 | c.281T= (p.Val94=) c.113T= (p.Val38=) n.222-31T= | |
7 | g.138091788C>A | CA457915305 | AKR1D1 | c.282C>A (p.Val94=) c.114C>A (p.Val38=) n.222-30C>A | |
7 | g.138091788C>G | CA457915306 | AKR1D1 | c.282C>G (p.Val94=) c.114C>G (p.Val38=) n.222-30C>G | |
7 | g.138091788C>T | CA457915307 | AKR1D1 | c.282C>T (p.Val94=) c.114C>T (p.Val38=) n.222-30C>T | |
7 | g.138091790del | CA2579033690 | AKR1D1 | c.284del (p.Pro95GlnfsTer17) c.116del (p.Pro39GlnfsTer17) n.222-28del | |
7 | g.138091789C>A | CA369359229 | AKR1D1 | c.283C>A (p.Pro95Thr) c.115C>A (p.Pro39Thr) n.222-29C>A | |
7 | g.138091789C>G | CA369359227 | AKR1D1 | c.283C>G (p.Pro95Ala) c.115C>G (p.Pro39Ala) n.222-29C>G | |
7 | g.138091789C>T | CA369359228 | AKR1D1 | c.283C>T (p.Pro95Ser) c.115C>T (p.Pro39Ser) n.222-29C>T | |
7 | g.138091790C>A | CA4502645 | AKR1D1 | c.284C>A (p.Pro95Gln) c.116C>A (p.Pro39Gln) n.222-28C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091790C= | CA1746468616 | AKR1D1 | c.284C= (p.Pro95=) c.116C= (p.Pro39=) n.222-28C= | |
7 | g.138091790C>G | CA369359230 | AKR1D1 | c.284C>G (p.Pro95Arg) c.116C>G (p.Pro39Arg) n.222-28C>G | |
7 | g.138091790C>T | CA369359231 | AKR1D1 | c.284C>T (p.Pro95Leu) c.116C>T (p.Pro39Leu) n.222-28C>T | dbSNP |
7 | g.138091791A>C | CA457915310 | AKR1D1 | c.285A>C (p.Pro95=) c.117A>C (p.Pro39=) n.222-27A>C | |
7 | g.138091791A>G | CA457915311 | AKR1D1 | c.285A>G (p.Pro95=) c.117A>G (p.Pro39=) n.222-27A>G | gnomAD v4 |
7 | g.138091791A>T | CA457915312 | AKR1D1 | c.285A>T (p.Pro95=) c.117A>T (p.Pro39=) n.222-27A>T | |
7 | g.138091792G>A | CA4502646 | AKR1D1 | c.286G>A (p.Glu96Lys) c.118G>A (p.Glu40Lys) n.222-26G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091792G>C | CA369359232 | AKR1D1 | c.286G>C (p.Glu96Gln) c.118G>C (p.Glu40Gln) n.222-26G>C | |
7 | g.138091792G= | CA1746468617 | AKR1D1 | c.286G= (p.Glu96=) c.118G= (p.Glu40=) n.222-26G= | |
7 | g.138091792G>T | CA369359233 | AKR1D1 | c.286G>T (p.Glu96Ter) c.118G>T (p.Glu40Ter) n.222-26G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091793A>C | CA369359234 | AKR1D1 | c.287A>C (p.Glu96Ala) c.119A>C (p.Glu40Ala) n.222-25A>C | |
7 | g.138091793A>G | CA369359235 | AKR1D1 | c.287A>G (p.Glu96Gly) c.119A>G (p.Glu40Gly) n.222-25A>G | |
7 | g.138091793A>T | CA369359236 | AKR1D1 | c.287A>T (p.Glu96Val) c.119A>T (p.Glu40Val) n.222-25A>T | |
7 | g.138091794G>A | CA457915316 | AKR1D1 | c.288G>A (p.Glu96=) c.120G>A (p.Glu40=) n.222-24G>A | |
7 | g.138091794G>C | CA369359237 | AKR1D1 | c.288G>C (p.Glu96Asp) c.120G>C (p.Glu40Asp) n.222-24G>C | COSMIC |
7 | g.138091794G>T | CA369359238 | AKR1D1 | c.288G>T (p.Glu96Asp) c.120G>T (p.Glu40Asp) n.222-24G>T | |
7 | g.138091795A>C | CA369359240 | AKR1D1 | c.289A>C (p.Met97Leu) c.121A>C (p.Met41Leu) n.222-23A>C | |
7 | g.138091795A>G | CA369359241 | AKR1D1 | c.289A>G (p.Met97Val) c.121A>G (p.Met41Val) n.222-23A>G | |
7 | g.138091795A>T | CA369359239 | AKR1D1 | c.289A>T (p.Met97Leu) c.121A>T (p.Met41Leu) n.222-23A>T | |
7 | g.138091796T>A | CA369359242 | AKR1D1 | c.290T>A (p.Met97Lys) c.122T>A (p.Met41Lys) n.222-22T>A | |
7 | g.138091796T>C | CA369359243 | AKR1D1 | c.290T>C (p.Met97Thr) c.122T>C (p.Met41Thr) n.222-22T>C | gnomAD v4 |
7 | g.138091796T>G | CA369359244 | AKR1D1 | c.290T>G (p.Met97Arg) c.122T>G (p.Met41Arg) n.222-22T>G | |
7 | g.138091797G>A | CA369359245 | AKR1D1 | c.291G>A (p.Met97Ile) c.123G>A (p.Met41Ile) n.222-21G>A | COSMIC |
7 | g.138091797G>C | CA369359246 | AKR1D1 | c.291G>C (p.Met97Ile) c.123G>C (p.Met41Ile) n.222-21G>C | |
7 | g.138091797G>T | CA369359247 | AKR1D1 | c.291G>T (p.Met97Ile) c.123G>T (p.Met41Ile) n.222-21G>T | gnomAD v4 |
7 | g.138091798G>A | CA369359248 | AKR1D1 | c.292G>A (p.Val98Ile) c.124G>A (p.Val42Ile) n.222-20G>A | dbSNP gnomAD v2 COSMIC |
7 | g.138091798G>C | CA369359249 | AKR1D1 | c.292G>C (p.Val98Leu) c.124G>C (p.Val42Leu) n.222-20G>C | |
7 | g.138091798G= | CA1746468618 | AKR1D1 | c.292G= (p.Val98=) c.124G= (p.Val42=) n.222-20G= | |
7 | g.138091798G>T | CA369359250 | AKR1D1 | c.292G>T (p.Val98Phe) c.124G>T (p.Val42Phe) n.222-20G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091799T>A | CA369359251 | AKR1D1 | c.293T>A (p.Val98Asp) c.125T>A (p.Val42Asp) n.222-19T>A | |
7 | g.138091799T>C | CA369359252 | AKR1D1 | c.293T>C (p.Val98Ala) c.125T>C (p.Val42Ala) n.222-19T>C | gnomAD v4 |
7 | g.138091799T>G | CA369359253 | AKR1D1 | c.293T>G (p.Val98Gly) c.125T>G (p.Val42Gly) n.222-19T>G | |
7 | g.138091800C>A | CA167079495 | AKR1D1 | c.294C>A (p.Val98=) c.126C>A (p.Val42=) n.222-18C>A | dbSNP COSMIC |
7 | g.138091800C= | CA1746468619 | AKR1D1 | c.294C= (p.Val98=) c.126C= (p.Val42=) n.222-18C= | |
7 | g.138091800C>G | CA457915322 | AKR1D1 | c.294C>G (p.Val98=) c.126C>G (p.Val42=) n.222-18C>G | |
7 | g.138091800C>T | CA167079515 | AKR1D1 | c.294C>T (p.Val98=) c.126C>T (p.Val42=) n.222-18C>T | dbSNP |
7 | g.138091801C>A | CA369359255 | AKR1D1 | c.295C>A (p.Arg99Ser) c.127C>A (p.Arg43Ser) n.222-17C>A | |
7 | g.138091801C= | CA1746468620 | AKR1D1 | c.295C= (p.Arg99=) c.127C= (p.Arg43=) n.222-17C= | |
7 | g.138091801C>G | CA369359254 | AKR1D1 | c.295C>G (p.Arg99Gly) c.127C>G (p.Arg43Gly) n.222-17C>G | |
7 | g.138091801C>T | CA167079538 | AKR1D1 | c.295C>T (p.Arg99Cys) c.127C>T (p.Arg43Cys) n.222-17C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138091802G>A | CA4502647 | AKR1D1 | c.296G>A (p.Arg99His) c.128G>A (p.Arg43His) n.222-16G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091802G>C | CA369359256 | AKR1D1 | c.296G>C (p.Arg99Pro) c.128G>C (p.Arg43Pro) n.222-16G>C | |
7 | g.138091802G= | CA1746468621 | AKR1D1 | c.296G= (p.Arg99=) c.128G= (p.Arg43=) n.222-16G= | |
7 | g.138091802G>T | CA369359257 | AKR1D1 | c.296G>T (p.Arg99Leu) c.128G>T (p.Arg43Leu) n.222-16G>T | COSMIC |
7 | g.138091803C>A | CA457915324 | AKR1D1 | c.297C>A (p.Arg99=) c.129C>A (p.Arg43=) n.222-15C>A | |
7 | g.138091803C= | CA1746468622 | AKR1D1 | c.297C= (p.Arg99=) c.129C= (p.Arg43=) n.222-15C= | |
7 | g.138091803C>G | CA457915325 | AKR1D1 | c.297C>G (p.Arg99=) c.129C>G (p.Arg43=) n.222-15C>G | |
7 | g.138091803C>T | CA457915326 | AKR1D1 | c.297C>T (p.Arg99=) c.129C>T (p.Arg43=) n.222-15C>T | ClinVar dbSNP |
7 | g.138091804C>A | CA369359258 | AKR1D1 | c.298C>A (p.Pro100Thr) c.130C>A (p.Pro44Thr) n.222-14C>A | |
7 | g.138091804C>G | CA369359259 | AKR1D1 | c.298C>G (p.Pro100Ala) c.130C>G (p.Pro44Ala) n.222-14C>G | |
7 | g.138091804C>T | CA369359260 | AKR1D1 | c.298C>T (p.Pro100Ser) c.130C>T (p.Pro44Ser) n.222-14C>T | |
7 | g.138091805C>A | CA369359261 | AKR1D1 | c.299C>A (p.Pro100Gln) c.131C>A (p.Pro44Gln) n.222-13C>A | |
7 | g.138091805C>G | CA369359262 | AKR1D1 | c.299C>G (p.Pro100Arg) c.131C>G (p.Pro44Arg) n.222-13C>G | |
7 | g.138091805C>T | CA369359263 | AKR1D1 | c.299C>T (p.Pro100Leu) c.131C>T (p.Pro44Leu) n.222-13C>T | |
7 | g.138091806A= | CA1746468623 | AKR1D1 | c.300A= (p.Pro100=) c.132A= (p.Pro44=) n.222-12A= | |
7 | g.138091806A>C | CA457915331 | AKR1D1 | c.300A>C (p.Pro100=) c.132A>C (p.Pro44=) n.222-12A>C | |
7 | g.138091806A>G | CA167079552 | AKR1D1 | c.300A>G (p.Pro100=) c.132A>G (p.Pro44=) n.222-12A>G | dbSNP gnomAD v4 |
7 | g.138091806A>T | CA457915332 | AKR1D1 | c.300A>T (p.Pro100=) c.132A>T (p.Pro44=) n.222-12A>T | |
7 | g.138091807A>C | CA369359264 | AKR1D1 | c.301A>C (p.Thr101Pro) c.133A>C (p.Thr45Pro) n.222-11A>C | |
7 | g.138091807A>G | CA369359265 | AKR1D1 | c.301A>G (p.Thr101Ala) c.133A>G (p.Thr45Ala) n.222-11A>G | |
7 | g.138091807A>T | CA369359266 | AKR1D1 | c.301A>T (p.Thr101Ser) c.133A>T (p.Thr45Ser) n.222-11A>T | |
7 | g.138091808C>A | CA369359269 | AKR1D1 | c.302C>A (p.Thr101Asn) c.134C>A (p.Thr45Asn) n.222-10C>A | |
7 | g.138091808C= | CA1746468624 | AKR1D1 | c.302C= (p.Thr101=) c.134C= (p.Thr45=) n.222-10C= | |
7 | g.138091808C>G | CA369359268 | AKR1D1 | c.302C>G (p.Thr101Ser) c.134C>G (p.Thr45Ser) n.222-10C>G | |
7 | g.138091808C>T | CA369359267 | AKR1D1 | c.302C>T (p.Thr101Ile) c.134C>T (p.Thr45Ile) n.222-10C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091809C>A | CA457915334 | AKR1D1 | c.303C>A (p.Thr101=) c.135C>A (p.Thr45=) n.222-9C>A | gnomAD v4 |
7 | g.138091809C= | CA1746468625 | AKR1D1 | c.303C= (p.Thr101=) c.135C= (p.Thr45=) n.222-9C= | |
7 | g.138091809C>G | CA4502648 | AKR1D1 | c.303C>G (p.Thr101=) c.135C>G (p.Thr45=) n.222-9C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091809C>T | CA457915335 | AKR1D1 | c.303C>T (p.Thr101=) c.135C>T (p.Thr45=) n.222-9C>T | |
7 | g.138091810C>A | CA369359270 | AKR1D1 | c.304C>A (p.Leu102Met) c.136C>A (p.Leu46Met) n.222-8C>A | |
7 | g.138091810C= | CA1746468626 | AKR1D1 | c.304C= (p.Leu102=) c.136C= (p.Leu46=) n.222-8C= | |
7 | g.138091810C>G | CA369359271 | AKR1D1 | c.304C>G (p.Leu102Val) c.136C>G (p.Leu46Val) n.222-8C>G | |
7 | g.138091810C>T | CA457915336 | AKR1D1 | c.304C>T (p.Leu102=) c.136C>T (p.Leu46=) n.222-8C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091811T>A | CA369359272 | AKR1D1 | c.305T>A (p.Leu102Gln) c.137T>A (p.Leu46Gln) n.222-7T>A | |
7 | g.138091811T>C | CA369359274 | AKR1D1 | c.305T>C (p.Leu102Pro) c.137T>C (p.Leu46Pro) n.222-7T>C | |
7 | g.138091811T>G | CA369359273 | AKR1D1 | c.305T>G (p.Leu102Arg) c.137T>G (p.Leu46Arg) n.222-7T>G | |
7 | g.138091812G>A | CA457915338 | AKR1D1 | c.306G>A (p.Leu102=) c.138G>A (p.Leu46=) n.222-6G>A | gnomAD v4 |
7 | g.138091812G>C | CA457915339 | AKR1D1 | c.306G>C (p.Leu102=) c.138G>C (p.Leu46=) n.222-6G>C | |
7 | g.138091812G>T | CA457915341 | AKR1D1 | c.306G>T (p.Leu102=) c.138G>T (p.Leu46=) n.222-6G>T | |
7 | g.138091813G>A | CA4502649 | AKR1D1 | c.307G>A (p.Glu103Lys) c.139G>A (p.Glu47Lys) n.222-5G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091813G>C | CA369359276 | AKR1D1 | c.307G>C (p.Glu103Gln) c.139G>C (p.Glu47Gln) n.222-5G>C | |
7 | g.138091813G= | CA1746468627 | AKR1D1 | c.307G= (p.Glu103=) c.139G= (p.Glu47=) n.222-5G= | |
7 | g.138091813G>T | CA369359275 | AKR1D1 | c.307G>T (p.Glu103Ter) c.139G>T (p.Glu47Ter) n.222-5G>T | |
7 | g.138091814A>C | CA369359277 | AKR1D1 | c.308A>C (p.Glu103Ala) c.140A>C (p.Glu47Ala) n.222-4A>C | |
7 | g.138091814A>G | CA369359278 | AKR1D1 | c.308A>G (p.Glu103Gly) c.140A>G (p.Glu47Gly) n.222-4A>G | |
7 | g.138091814A>T | CA369359279 | AKR1D1 | c.308A>T (p.Glu103Val) c.140A>T (p.Glu47Val) n.222-4A>T | |
7 | g.138091815G>A | CA457915343 | AKR1D1 | c.309G>A (p.Glu103=) c.141G>A (p.Glu47=) n.222-3G>A | gnomAD v4 |
7 | g.138091815G>C | CA369359280 | AKR1D1 | c.309G>C (p.Glu103Asp) c.141G>C (p.Glu47Asp) n.222-3G>C | |
7 | g.138091815G>T | CA369359281 | AKR1D1 | c.309G>T (p.Glu103Asp) c.141G>T (p.Glu47Asp) n.222-3G>T | |
7 | g.138091816A= | CA1746468628 | AKR1D1 | c.310A= (p.Arg104=) c.142A= (p.Arg48=) n.222-2A= | |
7 | g.138091816A>C | CA457915344 | AKR1D1 | c.310A>C (p.Arg104=) c.142A>C (p.Arg48=) n.222-2A>C | dbSNP |
7 | g.138091816A>G | CA369359282 | AKR1D1 | c.310A>G (p.Arg104Gly) c.142A>G (p.Arg48Gly) n.222-2A>G | |
7 | g.138091816A>T | CA369359283 | AKR1D1 | c.310A>T (p.Arg104Trp) c.142A>T (p.Arg48Trp) n.222-2A>T | |
7 | g.138091817G>A | CA369359284 | AKR1D1 | c.311G>A (p.Arg104Lys) c.143G>A (p.Arg48Lys) n.222-1G>A | COSMIC |
7 | g.138091817G>C | CA369359285 | AKR1D1 | c.311G>C (p.Arg104Thr) c.143G>C (p.Arg48Thr) n.222-1G>C | |
7 | g.138091817G>T | CA369359286 | AKR1D1 | c.311G>T (p.Arg104Met) c.143G>T (p.Arg48Met) n.222-1G>T | |
7 | g.138091818G>A | CA4502650 | AKR1D1 | c.312G>A (p.Arg104=) c.144G>A (p.Arg48=) n.222G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091818G>C | CA369359287 | AKR1D1 | c.312G>C (p.Arg104Ser) c.144G>C (p.Arg48Ser) n.222G>C | |
7 | g.138091818G= | CA1746468629 | AKR1D1 | c.312G= (p.Arg104=) c.144G= (p.Arg48=) n.222G= | |
7 | g.138091818G>T | CA369359288 | AKR1D1 | c.312G>T (p.Arg104Ser) c.144G>T (p.Arg48Ser) n.222G>T | |
7 | g.138091819A= | CA1746468630 | AKR1D1 | c.313A= (p.Thr105=) c.145A= (p.Thr49=) n.223A= | |
7 | g.138091819A>C | CA369359290 | AKR1D1 | c.313A>C (p.Thr105Pro) c.145A>C (p.Thr49Pro) n.223A>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138091819A>G | CA4502651 | AKR1D1 | c.313A>G (p.Thr105Ala) c.145A>G (p.Thr49Ala) n.223A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091819A>T | CA369359289 | AKR1D1 | c.313A>T (p.Thr105Ser) c.145A>T (p.Thr49Ser) n.223A>T | |
7 | g.138091820C>A | CA369359291 | AKR1D1 | c.314C>A (p.Thr105Lys) c.146C>A (p.Thr49Lys) n.224C>A | |
7 | g.138091820C>G | CA369359292 | AKR1D1 | c.314C>G (p.Thr105Arg) c.146C>G (p.Thr49Arg) n.224C>G | |
7 | g.138091820C>T | CA369359293 | AKR1D1 | c.314C>T (p.Thr105Ile) c.146C>T (p.Thr49Ile) n.224C>T | gnomAD v4 |
7 | g.138091821A>C | CA457915348 | AKR1D1 | c.315A>C (p.Thr105=) c.147A>C (p.Thr49=) n.225A>C | |
7 | g.138091821A>G | CA457915347 | AKR1D1 | c.315A>G (p.Thr105=) c.147A>G (p.Thr49=) n.225A>G | |
7 | g.138091821A>T | CA457915346 | AKR1D1 | c.315A>T (p.Thr105=) c.147A>T (p.Thr49=) n.225A>T | |
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 | ClinVar |
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 | |
7 | g.138091836G>T | CA369359324 | AKR1D1 | c.330G>T (p.Gln110His) c.162G>T (p.Gln54His) n.240G>T | |
7 | g.138091837C>A | CA369359325 | AKR1D1 | c.331C>A (p.Leu111Ile) c.163C>A (p.Leu55Ile) n.241C>A | |
7 | g.138091837C>G | CA369359326 | AKR1D1 | c.331C>G (p.Leu111Val) c.163C>G (p.Leu55Val) n.241C>G | |
7 | g.138091837C>T | CA457915367 | AKR1D1 | c.331C>T (p.Leu111=) c.163C>T (p.Leu55=) n.241C>T | |
7 | g.138091838T>A | CA369359328 | AKR1D1 | c.332T>A (p.Leu111Gln) c.164T>A (p.Leu55Gln) n.242T>A | |
7 | g.138091838T>C | CA4502656 | AKR1D1 | c.332T>C (p.Leu111Pro) c.164T>C (p.Leu55Pro) n.242T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091838T>G | CA369359327 | AKR1D1 | c.332T>G (p.Leu111Arg) c.164T>G (p.Leu55Arg) n.242T>G | |
7 | g.138091838T= | CA1746468636 | AKR1D1 | c.332T= (p.Leu111=) c.164T= (p.Leu55=) n.242T= | |
7 | g.138091839A>C | CA457915369 | AKR1D1 | c.333A>C (p.Leu111=) c.165A>C (p.Leu55=) n.243A>C | |
7 | g.138091839A>G | CA457915371 | AKR1D1 | c.333A>G (p.Leu111=) c.165A>G (p.Leu55=) n.243A>G | |
7 | g.138091839A>T | CA457915375 | AKR1D1 | c.333A>T (p.Leu111=) c.165A>T (p.Leu55=) n.243A>T | |
7 | g.138091840G>A | CA369359329 | AKR1D1 | c.334G>A (p.Asp112Asn) c.166G>A (p.Asp56Asn) n.244G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.138091840G>C | CA369359331 | AKR1D1 | c.334G>C (p.Asp112His) c.166G>C (p.Asp56His) n.244G>C | |
7 | g.138091840G= | CA1746468637 | AKR1D1 | c.334G= (p.Asp112=) c.166G= (p.Asp56=) n.244G= | |
7 | g.138091840G>T | CA369359330 | AKR1D1 | c.334G>T (p.Asp112Tyr) c.166G>T (p.Asp56Tyr) n.244G>T | gnomAD v4 |
7 | g.138091841A>C | CA369359332 | AKR1D1 | c.335A>C (p.Asp112Ala) c.167A>C (p.Asp56Ala) n.245A>C | |
7 | g.138091841A>G | CA369359333 | AKR1D1 | c.335A>G (p.Asp112Gly) c.167A>G (p.Asp56Gly) n.245A>G | |
7 | g.138091841A>T | CA369359334 | AKR1D1 | c.335A>T (p.Asp112Val) c.167A>T (p.Asp56Val) n.245A>T | gnomAD v4 |
7 | g.138091842T>A | CA369359335 | AKR1D1 | c.336T>A (p.Asp112Glu) c.168T>A (p.Asp56Glu) n.246T>A | |
7 | g.138091842T>C | CA4502657 | AKR1D1 | c.336T>C (p.Asp112=) c.168T>C (p.Asp56=) n.246T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091842T>G | CA369359336 | AKR1D1 | c.336T>G (p.Asp112Glu) c.168T>G (p.Asp56Glu) n.246T>G | |
7 | g.138091842T= | CA1746468638 | AKR1D1 | c.336T= (p.Asp112=) c.168T= (p.Asp56=) n.246T= | |
7 | g.138091843T>A | CA369359337 | AKR1D1 | c.337T>A (p.Tyr113Asn) c.169T>A (p.Tyr57Asn) n.247T>A n.1T>A | |
7 | g.138091843T>C | CA369359338 | AKR1D1 | c.337T>C (p.Tyr113His) c.169T>C (p.Tyr57His) n.247T>C n.1T>C | |
7 | g.138091843T>G | CA369359339 | AKR1D1 | c.337T>G (p.Tyr113Asp) c.169T>G (p.Tyr57Asp) n.247T>G n.1T>G | |
7 | g.138091844A= | CA1746468639 | AKR1D1 | c.338A= (p.Tyr113=) c.170A= (p.Tyr57=) n.248A= n.2A= | |
7 | g.138091844A>C | CA369359340 | AKR1D1 | c.338A>C (p.Tyr113Ser) c.170A>C (p.Tyr57Ser) n.248A>C n.2A>C | |
7 | g.138091844A>G | CA369359341 | AKR1D1 | c.338A>G (p.Tyr113Cys) c.170A>G (p.Tyr57Cys) n.248A>G n.2A>G | |
7 | g.138091844A>T | CA4502658 | AKR1D1 | c.338A>T (p.Tyr113Phe) c.170A>T (p.Tyr57Phe) n.248A>T n.2A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091845T>A | CA369359343 | AKR1D1 | c.339T>A (p.Tyr113Ter) c.171T>A (p.Tyr57Ter) n.249T>A n.3T>A | |
7 | g.138091845T>C | CA457915397 | AKR1D1 | c.339T>C (p.Tyr113=) c.171T>C (p.Tyr57=) n.249T>C n.3T>C | |
7 | g.138091845T>G | CA369359342 | AKR1D1 | c.339T>G (p.Tyr113Ter) c.171T>G (p.Tyr57Ter) n.249T>G n.3T>G | |
7 | g.138091846G>A | CA369359344 | AKR1D1 | c.340G>A (p.Val114Met) c.172G>A (p.Val58Met) n.250G>A n.4G>A | |
7 | g.138091846G>C | CA369359345 | AKR1D1 | c.340G>C (p.Val114Leu) c.172G>C (p.Val58Leu) n.250G>C n.4G>C | |
7 | g.138091846G>T | CA369359346 | AKR1D1 | c.340G>T (p.Val114Leu) c.172G>T (p.Val58Leu) n.250G>T n.4G>T | |
7 | g.138091847T>A | CA369359347 | AKR1D1 | c.341T>A (p.Val114Glu) c.173T>A (p.Val58Glu) n.251T>A n.5T>A | |
7 | g.138091847T>C | CA369359348 | AKR1D1 | c.341T>C (p.Val114Ala) c.173T>C (p.Val58Ala) n.251T>C n.5T>C | |
7 | g.138091847T>G | CA369359349 | AKR1D1 | c.341T>G (p.Val114Gly) c.173T>G (p.Val58Gly) n.251T>G n.5T>G | |
7 | g.138091848G>A | CA457915400 | AKR1D1 | c.342G>A (p.Val114=) c.174G>A (p.Val58=) n.252G>A n.6G>A | gnomAD v4 |
7 | g.138091848G>C | CA457915402 | AKR1D1 | c.342G>C (p.Val114=) c.174G>C (p.Val58=) n.252G>C n.6G>C | |
7 | g.138091848G>T | CA457915399 | AKR1D1 | c.342G>T (p.Val114=) c.174G>T (p.Val58=) n.252G>T n.6G>T | |
7 | g.138091849G>A | CA369359350 | AKR1D1 | c.343G>A (p.Asp115Asn) c.175G>A (p.Asp59Asn) n.253G>A n.7G>A | |
7 | g.138091849G>C | CA369359351 | AKR1D1 | c.343G>C (p.Asp115His) c.175G>C (p.Asp59His) n.253G>C n.7G>C | |
7 | g.138091849G>T | CA369359352 | AKR1D1 | c.343G>T (p.Asp115Tyr) c.175G>T (p.Asp59Tyr) n.253G>T n.7G>T | |
7 | g.138091850A= | CA1746468640 | AKR1D1 | c.344A= (p.Asp115=) c.176A= (p.Asp59=) n.254A= n.8A= | |
7 | g.138091850A>C | CA369359353 | AKR1D1 | c.344A>C (p.Asp115Ala) c.176A>C (p.Asp59Ala) n.254A>C n.8A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091850A>G | CA369359354 | AKR1D1 | c.344A>G (p.Asp115Gly) c.176A>G (p.Asp59Gly) n.254A>G n.8A>G | |
7 | g.138091850A>T | CA369359355 | AKR1D1 | c.344A>T (p.Asp115Val) c.176A>T (p.Asp59Val) n.254A>T n.8A>T | |
7 | g.138091851T>A | CA4502659 | AKR1D1 | c.345T>A (p.Asp115Glu) c.177T>A (p.Asp59Glu) n.255T>A n.9T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091851T>C | CA167079689 | AKR1D1 | c.345T>C (p.Asp115=) c.177T>C (p.Asp59=) n.255T>C n.9T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091851T>G | CA369359356 | AKR1D1 | c.345T>G (p.Asp115Glu) c.177T>G (p.Asp59Glu) n.255T>G n.9T>G | COSMIC |
7 | g.138091851T= | CA1746468641 | AKR1D1 | c.345T= (p.Asp115=) c.177T= (p.Asp59=) n.255T= n.9T= | |
7 | g.138091852C>A | CA369359357 | AKR1D1 | c.346C>A (p.Leu116Ile) c.178C>A (p.Leu60Ile) n.256C>A n.10C>A | |
7 | g.138091852C= | CA1746468643 | AKR1D1 | c.346C= (p.Leu116=) c.178C= (p.Leu60=) n.256C= n.10C= | |
7 | g.138091852C>G | CA10628214 | AKR1D1 | c.346C>G (p.Leu116Val) c.178C>G (p.Leu60Val) n.256C>G n.10C>G | ClinVar dbSNP gnomAD v4 |
7 | g.138091852C>T | CA369359358 | AKR1D1 | c.346C>T (p.Leu116Phe) c.178C>T (p.Leu60Phe) n.256C>T n.10C>T | |
7 | g.138091853_138091870dup | CA1746468642 | AKR1D1 | c.347_364dup (p.Val121_Pro122insLeuTyrIleIleGluVal) c.179_196dup (p.Val65_Pro66insLeuTyrIleIleGluVal) n.257_274dup n.11_28dup | dbSNP gnomAD v4 |
7 | g.138091853T>A | CA369359359 | AKR1D1 | c.347T>A (p.Leu116His) c.179T>A (p.Leu60His) n.257T>A n.11T>A | |
7 | g.138091853T>C | CA369359360 | AKR1D1 | c.347T>C (p.Leu116Pro) c.179T>C (p.Leu60Pro) n.257T>C n.11T>C | |
7 | g.138091853T>G | CA369359361 | AKR1D1 | c.347T>G (p.Leu116Arg) c.179T>G (p.Leu60Arg) n.257T>G n.11T>G | |
7 | g.138091854T>A | CA457915408 | AKR1D1 | c.348T>A (p.Leu116=) c.180T>A (p.Leu60=) n.258T>A n.12T>A | |
7 | g.138091854T>C | CA457915410 | AKR1D1 | c.348T>C (p.Leu116=) c.180T>C (p.Leu60=) n.258T>C n.12T>C | |
7 | g.138091854T>G | CA457915409 | AKR1D1 | c.348T>G (p.Leu116=) c.180T>G (p.Leu60=) n.258T>G n.12T>G | |
7 | g.138091855T>A | CA369359364 | AKR1D1 | c.349T>A (p.Tyr117Asn) c.181T>A (p.Tyr61Asn) n.259T>A n.13T>A | |
7 | g.138091855T>C | CA369359362 | AKR1D1 | c.349T>C (p.Tyr117His) c.181T>C (p.Tyr61His) n.259T>C n.13T>C | |
7 | g.138091855T>G | CA369359363 | AKR1D1 | c.349T>G (p.Tyr117Asp) c.181T>G (p.Tyr61Asp) n.259T>G n.13T>G | |
7 | g.138091855T= | CA1746468644 | AKR1D1 | c.349T= (p.Tyr117=) c.181T= (p.Tyr61=) n.259T= n.13T= | |
7 | g.138091856A>C | CA369359365 | AKR1D1 | c.350A>C (p.Tyr117Ser) c.182A>C (p.Tyr61Ser) n.260A>C n.14A>C | |
7 | g.138091856A>G | CA369359366 | AKR1D1 | c.350A>G (p.Tyr117Cys) c.182A>G (p.Tyr61Cys) n.260A>G n.14A>G | |
7 | g.138091856A>T | CA369359367 | AKR1D1 | c.350A>T (p.Tyr117Phe) c.182A>T (p.Tyr61Phe) n.260A>T n.14A>T | |
7 | g.138091856dup | CA918141703 | AKR1D1 | c.350dup (p.Tyr117Ter) c.182dup (p.Tyr61Ter) n.260dup n.14dup | dbSNP gnomAD v4 |
7 | g.138091857C>A | CA369359368 | AKR1D1 | c.351C>A (p.Tyr117Ter) c.183C>A (p.Tyr61Ter) n.261C>A n.15C>A | |
7 | g.138091857C>G | CA369359369 | AKR1D1 | c.351C>G (p.Tyr117Ter) c.183C>G (p.Tyr61Ter) n.261C>G n.15C>G | |
7 | g.138091857C>T | CA457915417 | AKR1D1 | c.351C>T (p.Tyr117=) c.183C>T (p.Tyr61=) n.261C>T n.15C>T | dbSNP gnomAD v4 |
7 | g.138091858A>C | CA369359370 | AKR1D1 | c.352A>C (p.Ile118Leu) c.184A>C (p.Ile62Leu) n.262A>C n.16A>C | |
7 | g.138091858A>G | CA369359372 | AKR1D1 | c.352A>G (p.Ile118Val) c.184A>G (p.Ile62Val) n.262A>G n.16A>G | |
7 | g.138091858A>T | CA369359371 | AKR1D1 | c.352A>T (p.Ile118Phe) c.184A>T (p.Ile62Phe) n.262A>T n.16A>T | |
7 | g.138091859T>A | CA369359373 | AKR1D1 | c.353T>A (p.Ile118Asn) c.185T>A (p.Ile62Asn) n.263T>A n.17T>A | |
7 | g.138091859T>C | CA369359374 | AKR1D1 | c.353T>C (p.Ile118Thr) c.185T>C (p.Ile62Thr) n.263T>C n.17T>C | |
7 | g.138091859T>G | CA369359375 | AKR1D1 | c.353T>G (p.Ile118Ser) c.185T>G (p.Ile62Ser) n.263T>G n.17T>G | |
7 | g.138091860C>A | CA457915424 | AKR1D1 | c.354C>A (p.Ile118=) c.186C>A (p.Ile62=) n.264C>A n.18C>A | |
7 | g.138091860C= | CA1746468645 | AKR1D1 | c.354C= (p.Ile118=) c.186C= (p.Ile62=) n.264C= n.18C= | |
7 | g.138091860C>G | CA369359376 | AKR1D1 | c.354C>G (p.Ile118Met) c.186C>G (p.Ile62Met) n.264C>G n.18C>G | |
7 | g.138091860C>T | CA167079705 | AKR1D1 | c.354C>T (p.Ile118=) c.186C>T (p.Ile62=) n.264C>T n.18C>T | dbSNP |
7 | g.138091861A>C | CA369359377 | AKR1D1 | c.355A>C (p.Ile119Leu) c.187A>C (p.Ile63Leu) n.265A>C n.19A>C | |
7 | g.138091861A>G | CA369359378 | AKR1D1 | c.355A>G (p.Ile119Val) c.187A>G (p.Ile63Val) n.265A>G n.19A>G | gnomAD v4 |
7 | g.138091861A>T | CA369359379 | AKR1D1 | c.355A>T (p.Ile119Phe) c.187A>T (p.Ile63Phe) n.265A>T n.19A>T | |
7 | g.138091862T>A | CA369359380 | AKR1D1 | c.356T>A (p.Ile119Asn) c.188T>A (p.Ile63Asn) n.266T>A n.20T>A | |
7 | g.138091862T>C | CA4502660 | AKR1D1 | c.356T>C (p.Ile119Thr) c.188T>C (p.Ile63Thr) n.266T>C n.20T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091862T>G | CA369359381 | AKR1D1 | c.356T>G (p.Ile119Ser) c.188T>G (p.Ile63Ser) n.266T>G n.20T>G | |
7 | g.138091862T= | CA1746468646 | AKR1D1 | c.356T= (p.Ile119=) c.188T= (p.Ile63=) n.266T= n.20T= | |
7 | g.138091863T>A | CA457915428 | AKR1D1 | c.357T>A (p.Ile119=) c.189T>A (p.Ile63=) n.267T>A n.21T>A | |
7 | g.138091863T>C | CA457915429 | AKR1D1 | c.357T>C (p.Ile119=) c.189T>C (p.Ile63=) n.267T>C n.21T>C | |
7 | g.138091863T>G | CA369359382 | AKR1D1 | c.357T>G (p.Ile119Met) c.189T>G (p.Ile63Met) n.267T>G n.21T>G | |
7 | g.138091864G>A | CA369359384 | AKR1D1 | c.358G>A (p.Glu120Lys) c.190G>A (p.Glu64Lys) n.268G>A n.22G>A | |
7 | g.138091864G>C | CA369359383 | AKR1D1 | c.358G>C (p.Glu120Gln) c.190G>C (p.Glu64Gln) n.268G>C n.22G>C | |
7 | g.138091864G>T | CA369359385 | AKR1D1 | c.358G>T (p.Glu120Ter) c.190G>T (p.Glu64Ter) n.268G>T n.22G>T | |
7 | g.138091865A>C | CA369359386 | AKR1D1 | c.359A>C (p.Glu120Ala) c.191A>C (p.Glu64Ala) n.269A>C n.23A>C | |
7 | g.138091865A>G | CA369359388 | AKR1D1 | c.359A>G (p.Glu120Gly) c.191A>G (p.Glu64Gly) n.269A>G n.23A>G | |
7 | g.138091865A>T | CA369359387 | AKR1D1 | c.359A>T (p.Glu120Val) c.191A>T (p.Glu64Val) n.269A>T n.23A>T | |
7 | g.138091866A>C | CA369359389 | AKR1D1 | c.360A>C (p.Glu120Asp) c.192A>C (p.Glu64Asp) n.270A>C n.24A>C | |
7 | g.138091866A>G | CA457915432 | AKR1D1 | c.360A>G (p.Glu120=) c.192A>G (p.Glu64=) n.270A>G n.24A>G | |
7 | g.138091866A>T | CA369359390 | AKR1D1 | c.360A>T (p.Glu120Asp) c.192A>T (p.Glu64Asp) n.270A>T n.24A>T | |
7 | g.138091867G>A | CA369359391 | AKR1D1 | c.361G>A (p.Val121Ile) c.193G>A (p.Val65Ile) n.271G>A n.25G>A | gnomAD v4 |
7 | g.138091867G>C | CA369359392 | AKR1D1 | c.361G>C (p.Val121Leu) c.193G>C (p.Val65Leu) n.271G>C n.25G>C | |
7 | g.138091867G>T | CA369359393 | AKR1D1 | c.361G>T (p.Val121Leu) c.193G>T (p.Val65Leu) n.271G>T n.25G>T | |
7 | g.138091868T>A | CA369359394 | AKR1D1 | c.362T>A (p.Val121Glu) c.194T>A (p.Val65Glu) n.272T>A n.26T>A | |
7 | g.138091868T>C | CA369359395 | AKR1D1 | c.362T>C (p.Val121Ala) c.194T>C (p.Val65Ala) n.272T>C n.26T>C | |
7 | g.138091868T>G | CA369359396 | AKR1D1 | c.362T>G (p.Val121Gly) c.194T>G (p.Val65Gly) n.272T>G n.26T>G |