Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138091732A>C | CA2685107454 | AKR1D1 | c.262-36A>C (n.262-36A>C) c.94-36A>C (n.94-36A>C) n.222-86A>C | gnomAD v4 |
7 | g.138091732A>T | CA2579033683 | AKR1D1 | c.262-36A>T (n.262-36A>T) c.94-36A>T (n.94-36A>T) n.222-86A>T | dbSNP gnomAD v4 |
7 | g.138091733G>A | CA4502633 | AKR1D1 | c.262-35G>A (n.262-35G>A) c.94-35G>A (n.94-35G>A) n.222-85G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091733G= | CA1746468592 | AKR1D1 | c.262-35G= (n.262-35G=) c.94-35G= (n.94-35G=) n.222-85G= | |
7 | g.138091734A>T | CA2579033684 | AKR1D1 | c.262-34A>T (n.262-34A>T) c.94-34A>T (n.94-34A>T) n.222-84A>T | gnomAD v4 |
7 | g.138091735C>A | CA2579033685 | AKR1D1 | c.262-33C>A (n.262-33C>A) c.94-33C>A (n.94-33C>A) n.222-83C>A | gnomAD v4 |
7 | g.138091735C= | CA1746468593 | AKR1D1 | c.262-33C= (n.262-33C=) c.94-33C= (n.94-33C=) n.222-83C= | |
7 | g.138091735C>G | CA2580773395 | AKR1D1 | c.262-33C>G (n.262-33C>G) c.94-33C>G (n.94-33C>G) n.222-83C>G | |
7 | g.138091735C>T | CA4502634 | AKR1D1 | c.262-33C>T (n.262-33C>T) c.94-33C>T (n.94-33C>T) n.222-83C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091736A>G | CA2685107456 | AKR1D1 | c.262-32A>G (n.262-32A>G) c.94-32A>G (n.94-32A>G) n.222-82A>G | gnomAD v4 |
7 | g.138091736A>T | CA2685107457 | AKR1D1 | c.262-32A>T (n.262-32A>T) c.94-32A>T (n.94-32A>T) n.222-82A>T | gnomAD v4 |
7 | g.138091737_138091739dup | CA2685107455 | AKR1D1 | c.262-31_262-29dup (n.262-31_262-29dup) c.94-31_94-29dup (n.94-31_94-29dup) n.222-81_222-79dup | gnomAD v4 |
7 | g.138091737T>C | CA2579033686 | AKR1D1 | c.262-31T>C (n.262-31T>C) c.94-31T>C (n.94-31T>C) n.222-81T>C | gnomAD v4 |
7 | g.138091738T>C | CA2685107458 | AKR1D1 | c.262-30T>C (n.262-30T>C) c.94-30T>C (n.94-30T>C) n.222-80T>C | gnomAD v4 |
7 | g.138091740G>A | CA2715688997 | AKR1D1 | c.262-28G>A (n.262-28G>A) c.94-28G>A (n.94-28G>A) n.222-78G>A | dbSNP |
7 | g.138091740G>C | CA1746468595 | AKR1D1 | c.262-28G>C (n.262-28G>C) c.94-28G>C (n.94-28G>C) n.222-78G>C | dbSNP |
7 | g.138091740G= | CA1746468594 | AKR1D1 | c.262-28G= (n.262-28G=) c.94-28G= (n.94-28G=) n.222-78G= | |
7 | g.138091742T>A | CA2579033687 | AKR1D1 | c.262-26T>A (n.262-26T>A) c.94-26T>A (n.94-26T>A) n.222-76T>A | |
7 | g.138091742T>C | CA4502635 | AKR1D1 | c.262-26T>C (n.262-26T>C) c.94-26T>C (n.94-26T>C) n.222-76T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091742T= | CA1746468596 | AKR1D1 | c.262-26T= (n.262-26T=) c.94-26T= (n.94-26T=) n.222-76T= | |
7 | g.138091743A>T | CA2685107459 | AKR1D1 | c.262-25A>T (n.262-25A>T) c.94-25A>T (n.94-25A>T) n.222-75A>T | gnomAD v4 |
7 | g.138091744A>T | CA2778087687 | AKR1D1 | c.262-24A>T (n.262-24A>T) c.94-24A>T (n.94-24A>T) n.222-74A>T | |
7 | g.138091745T>C | CA1746468598 | AKR1D1 | c.262-23T>C (n.262-23T>C) c.94-23T>C (n.94-23T>C) n.222-73T>C | dbSNP |
7 | g.138091745T= | CA1746468597 | AKR1D1 | c.262-23T= (n.262-23T=) c.94-23T= (n.94-23T=) n.222-73T= | |
7 | g.138091747C>A | CA2685107460 | AKR1D1 | c.262-21C>A (n.262-21C>A) c.94-21C>A (n.94-21C>A) n.222-71C>A | dbSNP gnomAD v4 |
7 | g.138091747C>G | CA2685107461 | AKR1D1 | c.262-21C>G (n.262-21C>G) c.94-21C>G (n.94-21C>G) n.222-71C>G | gnomAD v4 |
7 | g.138091747C>T | CA2685107462 | AKR1D1 | c.262-21C>T (n.262-21C>T) c.94-21C>T (n.94-21C>T) n.222-71C>T | gnomAD v4 |
7 | g.138091748T>C | CA2778087688 | AKR1D1 | c.262-20T>C (n.262-20T>C) c.94-20T>C (n.94-20T>C) n.222-70T>C | |
7 | g.138091748T>G | CA2685107463 | AKR1D1 | c.262-20T>G (n.262-20T>G) c.94-20T>G (n.94-20T>G) n.222-70T>G | gnomAD v4 |
7 | g.138091749C>T | CA2685107464 | AKR1D1 | c.262-19C>T (n.262-19C>T) c.94-19C>T (n.94-19C>T) n.222-69C>T | gnomAD v4 |
7 | g.138091750C>A | CA2685107465 | AKR1D1 | c.262-18C>A (n.262-18C>A) c.94-18C>A (n.94-18C>A) n.222-68C>A | gnomAD v4 |
7 | g.138091751C>A | CA2685107466 | AKR1D1 | c.262-17C>A (n.262-17C>A) c.94-17C>A (n.94-17C>A) n.222-67C>A | gnomAD v4 |
7 | g.138091751C>G | CA2685107467 | AKR1D1 | c.262-17C>G (n.262-17C>G) c.94-17C>G (n.94-17C>G) n.222-67C>G | gnomAD v4 |
7 | g.138091753C= | CA1746468600 | AKR1D1 | c.262-15C= (n.262-15C=) c.94-15C= (n.94-15C=) n.222-65C= | |
7 | g.138091753C>T | CA4502637 | AKR1D1 | c.262-15C>T (n.262-15C>T) c.94-15C>T (n.94-15C>T) n.222-65C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091753_138091755delinsCTT | CA1746468599 | AKR1D1 | c.262-15_262-13delinsCTT (n.262-15_262-13delinsCTT) c.94-15_94-13delinsCTT (n.94-15_94-13delinsCTT) n.222-65_222-63delinsCTT | |
7 | g.138091755_138091756del | CA4502636 | AKR1D1 | c.262-13_262-12del (n.262-13_262-12del) c.94-13_94-12del (n.94-13_94-12del) n.222-63_222-62del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091755T>G | CA1746468601 | AKR1D1 | c.262-13T>G (n.262-13T>G) c.94-13T>G (n.94-13T>G) n.222-63T>G | dbSNP |
7 | g.138091755T= | CA1746468602 | AKR1D1 | c.262-13T= (n.262-13T=) c.94-13T= (n.94-13T=) n.222-63T= | |
7 | g.138091756T>C | CA578192012 | AKR1D1 | c.262-12T>C (n.262-12T>C) c.94-12T>C (n.94-12T>C) n.222-62T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091756T= | CA1746468603 | AKR1D1 | c.262-12T= (n.262-12T=) c.94-12T= (n.94-12T=) n.222-62T= | |
7 | g.138091757G>A | CA578192013 | AKR1D1 | c.262-11G>A (n.262-11G>A) c.94-11G>A (n.94-11G>A) n.222-61G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091757G>C | CA2579033688 | AKR1D1 | c.262-11G>C (n.262-11G>C) c.94-11G>C (n.94-11G>C) n.222-61G>C | |
7 | g.138091757G= | CA1746468604 | AKR1D1 | c.262-11G= (n.262-11G=) c.94-11G= (n.94-11G=) n.222-61G= | |
7 | g.138091757G>T | CA4502638 | AKR1D1 | c.262-11G>T (n.262-11G>T) c.94-11G>T (n.94-11G>T) n.222-61G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091759T>C | CA4502639 | AKR1D1 | c.262-9T>C (n.262-9T>C) c.94-9T>C (n.94-9T>C) n.222-59T>C | dbSNP ExAC |
7 | g.138091759T>G | CA2685107468 | AKR1D1 | c.262-9T>G (n.262-9T>G) c.94-9T>G (n.94-9T>G) n.222-59T>G | gnomAD v4 |
7 | g.138091759T= | CA1746468605 | AKR1D1 | c.262-9T= (n.262-9T=) c.94-9T= (n.94-9T=) n.222-59T= | |
7 | g.138091760T>A | CA4502640 | AKR1D1 | c.262-8T>A (n.262-8T>A) c.94-8T>A (n.94-8T>A) n.222-58T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091760T= | CA1746468606 | AKR1D1 | c.262-8T= (n.262-8T=) c.94-8T= (n.94-8T=) n.222-58T= | |
7 | g.138091761C>A | CA4502641 | AKR1D1 | c.262-7C>A (n.262-7C>A) c.94-7C>A (n.94-7C>A) n.222-57C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138091761C= | CA1746468607 | AKR1D1 | c.262-7C= (n.262-7C=) c.94-7C= (n.94-7C=) n.222-57C= | |
7 | g.138091761C>G | CA578192040 | AKR1D1 | c.262-7C>G (n.262-7C>G) c.94-7C>G (n.94-7C>G) n.222-57C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138091762T>C | CA4502642 | AKR1D1 | c.262-6T>C (n.262-6T>C) c.94-6T>C (n.94-6T>C) n.222-56T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138091762T= | CA1746468608 | AKR1D1 | c.262-6T= (n.262-6T=) c.94-6T= (n.94-6T=) n.222-56T= | |
7 | g.138091764T>C | CA2579033689 | AKR1D1 | c.262-4T>C (n.262-4T>C) c.94-4T>C (n.94-4T>C) n.222-54T>C | |
7 | g.138091765C>A | CA2685107469 | AKR1D1 | c.262-3C>A (n.262-3C>A) c.94-3C>A (n.94-3C>A) n.222-53C>A | gnomAD v4 |
7 | g.138091766A>C | CA369359120 | AKR1D1 | c.262-2A>C (n.262-2A>C) c.94-2A>C (n.94-2A>C) n.222-52A>C | |
7 | g.138091766A>G | CA369359122 | AKR1D1 | c.262-2A>G (n.262-2A>G) c.94-2A>G (n.94-2A>G) n.222-52A>G | |
7 | g.138091766A>T | CA369359124 | AKR1D1 | c.262-2A>T (n.262-2A>T) c.94-2A>T (n.94-2A>T) n.222-52A>T | |
7 | g.138091767G>A | CA369359127 | AKR1D1 | c.262-1G>A (n.262-1G>A) c.94-1G>A (n.94-1G>A) n.222-51G>A | |
7 | g.138091767G>C | CA369359128 | AKR1D1 | c.262-1G>C (n.262-1G>C) c.94-1G>C (n.94-1G>C) n.222-51G>C | gnomAD v4 |
7 | g.138091767G>T | CA369359131 | AKR1D1 | c.262-1G>T (n.262-1G>T) c.94-1G>T (n.94-1G>T) n.222-51G>T | ClinVar dbSNP |
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 |