| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128398557C>A | CA369169405 | IMPDH1 | c.823G>T (p.Asp275Tyr) n.806G>T c.931G>T (p.Asp311Tyr) c.563G>T c.901G>T (p.Asp301Tyr) c.832G>T (p.Asp278Tyr) n.520G>T c.696G>T c.673G>T (p.Asp225Tyr) c.661G>T (p.Asp221Tyr) c.806G>T (n.806G>T) c.601G>T (p.Asp201Tyr) c.724G>T (p.Asp242Tyr) c.676G>T (p.Asp226Tyr) c.700G>T (p.Asp234Tyr) c.313G>T (p.Asp105Tyr) | gnomAD v4 |
| 7 | g.128398557C= | CA1742328359 | IMPDH1 | c.823G= (p.Asp275=) n.806G= c.931G= (p.Asp311=) c.563G= c.901G= (p.Asp301=) c.832G= (p.Asp278=) n.520G= c.696G= c.673G= (p.Asp225=) c.661G= (p.Asp221=) c.806G= (n.806G=) c.601G= (p.Asp201=) c.724G= (p.Asp242=) c.676G= (p.Asp226=) c.700G= (p.Asp234=) c.313G= (p.Asp105=) | |
| 7 | g.128398557C>G | CA369169408 | IMPDH1 | c.823G>C (p.Asp275His) n.806G>C c.931G>C (p.Asp311His) c.563G>C c.901G>C (p.Asp301His) c.832G>C (p.Asp278His) n.520G>C c.696G>C c.673G>C (p.Asp225His) c.661G>C (p.Asp221His) c.806G>C (n.806G>C) c.601G>C (p.Asp201His) c.724G>C (p.Asp242His) c.676G>C (p.Asp226His) c.700G>C (p.Asp234His) c.313G>C (p.Asp105His) | |
| 7 | g.128398557C>T | CA257369 | IMPDH1 | c.823G>A (p.Asp275Asn) n.806G>A c.931G>A (p.Asp311Asn) c.563G>A c.901G>A (p.Asp301Asn) c.832G>A (p.Asp278Asn) n.520G>A c.696G>A c.673G>A (p.Asp225Asn) c.661G>A (p.Asp221Asn) c.806G>A (n.806G>A) c.601G>A (p.Asp201Asn) c.724G>A (p.Asp242Asn) c.676G>A (p.Asp226Asn) c.700G>A (p.Asp234Asn) c.313G>A (p.Asp105Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128398558G>A | CA4470984 | IMPDH1 | c.822C>T (p.Thr274=) n.805C>T c.930C>T (p.Thr310=) c.562C>T c.900C>T (p.Thr300=) c.831C>T (p.Thr277=) n.519C>T c.695C>T c.672C>T (p.Thr224=) c.660C>T (p.Thr220=) c.805C>T (n.805C>T) c.600C>T (p.Thr200=) c.723C>T (p.Thr241=) c.675C>T (p.Thr225=) c.699C>T (p.Thr233=) c.312C>T (p.Thr104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128398558G>C | CA457528354 | IMPDH1 | c.822C>G (p.Thr274=) n.805C>G c.930C>G (p.Thr310=) c.562C>G c.900C>G (p.Thr300=) c.831C>G (p.Thr277=) n.519C>G c.695C>G c.672C>G (p.Thr224=) c.660C>G (p.Thr220=) c.805C>G (n.805C>G) c.600C>G (p.Thr200=) c.723C>G (p.Thr241=) c.675C>G (p.Thr225=) c.699C>G (p.Thr233=) c.312C>G (p.Thr104=) | dbSNP |
| 7 | g.128398558G= | CA1742328376 | IMPDH1 | c.822C= (p.Thr274=) n.805C= c.930C= (p.Thr310=) c.562C= c.900C= (p.Thr300=) c.831C= (p.Thr277=) n.519C= c.695C= c.672C= (p.Thr224=) c.660C= (p.Thr220=) c.805C= (n.805C=) c.600C= (p.Thr200=) c.723C= (p.Thr241=) c.675C= (p.Thr225=) c.699C= (p.Thr233=) c.312C= (p.Thr104=) | |
| 7 | g.128398558G>T | CA457528356 | IMPDH1 | c.822C>A (p.Thr274=) n.805C>A c.930C>A (p.Thr310=) c.562C>A c.900C>A (p.Thr300=) c.831C>A (p.Thr277=) n.519C>A c.695C>A c.672C>A (p.Thr224=) c.660C>A (p.Thr220=) c.805C>A (n.805C>A) c.600C>A (p.Thr200=) c.723C>A (p.Thr241=) c.675C>A (p.Thr225=) c.699C>A (p.Thr233=) c.312C>A (p.Thr104=) | |
| 7 | g.128398559G>A | CA369169418 | IMPDH1 | c.821C>T (p.Thr274Ile) n.804C>T c.929C>T (p.Thr310Ile) c.561C>T c.899C>T (p.Thr300Ile) c.830C>T (p.Thr277Ile) n.518C>T c.694C>T c.671C>T (p.Thr224Ile) c.659C>T (p.Thr220Ile) c.804C>T (n.804C>T) c.599C>T (p.Thr200Ile) c.722C>T (p.Thr241Ile) c.674C>T (p.Thr225Ile) c.698C>T (p.Thr233Ile) c.311C>T (p.Thr104Ile) | |
| 7 | g.128398559G>C | CA369169421 | IMPDH1 | c.821C>G (p.Thr274Ser) n.804C>G c.929C>G (p.Thr310Ser) c.561C>G c.899C>G (p.Thr300Ser) c.830C>G (p.Thr277Ser) n.518C>G c.694C>G c.671C>G (p.Thr224Ser) c.659C>G (p.Thr220Ser) c.804C>G (n.804C>G) c.599C>G (p.Thr200Ser) c.722C>G (p.Thr241Ser) c.674C>G (p.Thr225Ser) c.698C>G (p.Thr233Ser) c.311C>G (p.Thr104Ser) | |
| 7 | g.128398559G>T | CA369169429 | IMPDH1 | c.821C>A (p.Thr274Asn) n.804C>A c.929C>A (p.Thr310Asn) c.561C>A c.899C>A (p.Thr300Asn) c.830C>A (p.Thr277Asn) n.518C>A c.694C>A c.671C>A (p.Thr224Asn) c.659C>A (p.Thr220Asn) c.804C>A (n.804C>A) c.599C>A (p.Thr200Asn) c.722C>A (p.Thr241Asn) c.674C>A (p.Thr225Asn) c.698C>A (p.Thr233Asn) c.311C>A (p.Thr104Asn) | |
| 7 | g.128398560T>A | CA369169432 | IMPDH1 | c.820A>T (p.Thr274Ser) n.803A>T c.928A>T (p.Thr310Ser) c.560A>T c.898A>T (p.Thr300Ser) c.829A>T (p.Thr277Ser) n.517A>T c.693A>T c.670A>T (p.Thr224Ser) c.658A>T (p.Thr220Ser) c.803A>T (n.803A>T) c.598A>T (p.Thr200Ser) c.721A>T (p.Thr241Ser) c.673A>T (p.Thr225Ser) c.697A>T (p.Thr233Ser) c.310A>T (p.Thr104Ser) | |
| 7 | g.128398560T>C | CA369169445 | IMPDH1 | c.820A>G (p.Thr274Ala) n.803A>G c.928A>G (p.Thr310Ala) c.560A>G c.898A>G (p.Thr300Ala) c.829A>G (p.Thr277Ala) n.517A>G c.693A>G c.670A>G (p.Thr224Ala) c.658A>G (p.Thr220Ala) c.803A>G (n.803A>G) c.598A>G (p.Thr200Ala) c.721A>G (p.Thr241Ala) c.673A>G (p.Thr225Ala) c.697A>G (p.Thr233Ala) c.310A>G (p.Thr104Ala) | |
| 7 | g.128398560T>G | CA16043423 | IMPDH1 | c.820A>C (p.Thr274Pro) n.803A>C c.928A>C (p.Thr310Pro) c.560A>C c.898A>C (p.Thr300Pro) c.829A>C (p.Thr277Pro) n.517A>C c.693A>C c.670A>C (p.Thr224Pro) c.658A>C (p.Thr220Pro) c.803A>C (n.803A>C) c.598A>C (p.Thr200Pro) c.721A>C (p.Thr241Pro) c.673A>C (p.Thr225Pro) c.697A>C (p.Thr233Pro) c.310A>C (p.Thr104Pro) | ClinVar dbSNP |
| 7 | g.128398560T= | CA1742328387 | IMPDH1 | c.820A= (p.Thr274=) n.803A= c.928A= (p.Thr310=) c.560A= c.898A= (p.Thr300=) c.829A= (p.Thr277=) n.517A= c.693A= c.670A= (p.Thr224=) c.658A= (p.Thr220=) c.803A= (n.803A=) c.598A= (p.Thr200=) c.721A= (p.Thr241=) c.673A= (p.Thr225=) c.697A= (p.Thr233=) c.310A= (p.Thr104=) | |
| 7 | g.128398561G>A | CA457528361 | IMPDH1 | c.819C>T (p.Arg273=) n.802C>T c.927C>T (p.Arg309=) c.559C>T c.897C>T (p.Arg299=) c.828C>T (p.Arg276=) n.516C>T c.692C>T c.669C>T (p.Arg223=) c.657C>T (p.Arg219=) c.802C>T (n.802C>T) c.597C>T (p.Arg199=) c.720C>T (p.Arg240=) c.672C>T (p.Arg224=) c.696C>T (p.Arg232=) c.309C>T (p.Arg103=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128398561G>C | CA457528362 | IMPDH1 | c.819C>G (p.Arg273=) n.802C>G c.927C>G (p.Arg309=) c.559C>G c.897C>G (p.Arg299=) c.828C>G (p.Arg276=) n.516C>G c.692C>G c.669C>G (p.Arg223=) c.657C>G (p.Arg219=) c.802C>G (n.802C>G) c.597C>G (p.Arg199=) c.720C>G (p.Arg240=) c.672C>G (p.Arg224=) c.696C>G (p.Arg232=) c.309C>G (p.Arg103=) | |
| 7 | g.128398561G= | CA1742328393 | IMPDH1 | c.819C= (p.Arg273=) n.802C= c.927C= (p.Arg309=) c.559C= c.897C= (p.Arg299=) c.828C= (p.Arg276=) n.516C= c.692C= c.669C= (p.Arg223=) c.657C= (p.Arg219=) c.802C= (n.802C=) c.597C= (p.Arg199=) c.720C= (p.Arg240=) c.672C= (p.Arg224=) c.696C= (p.Arg232=) c.309C= (p.Arg103=) | |
| 7 | g.128398561G>T | CA457528364 | IMPDH1 | c.819C>A (p.Arg273=) n.802C>A c.927C>A (p.Arg309=) c.559C>A c.897C>A (p.Arg299=) c.828C>A (p.Arg276=) n.516C>A c.692C>A c.669C>A (p.Arg223=) c.657C>A (p.Arg219=) c.802C>A (n.802C>A) c.597C>A (p.Arg199=) c.720C>A (p.Arg240=) c.672C>A (p.Arg224=) c.696C>A (p.Arg232=) c.309C>A (p.Arg103=) | gnomAD v4 |
| 7 | g.128398562C>A | CA369169451 | IMPDH1 | c.818G>T (p.Arg273Leu) n.801G>T c.926G>T (p.Arg309Leu) c.558G>T c.896G>T (p.Arg299Leu) c.827G>T (p.Arg276Leu) n.515G>T c.691G>T c.668G>T (p.Arg223Leu) c.656G>T (p.Arg219Leu) c.801G>T (n.801G>T) c.596G>T (p.Arg199Leu) c.719G>T (p.Arg240Leu) c.671G>T (p.Arg224Leu) c.695G>T (p.Arg232Leu) c.308G>T (p.Arg103Leu) | |
| 7 | g.128398562C= | CA1742328398 | IMPDH1 | c.818G= (p.Arg273=) n.801G= c.926G= (p.Arg309=) c.558G= c.896G= (p.Arg299=) c.827G= (p.Arg276=) n.515G= c.691G= c.668G= (p.Arg223=) c.656G= (p.Arg219=) c.801G= (n.801G=) c.596G= (p.Arg199=) c.719G= (p.Arg240=) c.671G= (p.Arg224=) c.695G= (p.Arg232=) c.308G= (p.Arg103=) | |
| 7 | g.128398562C>G | CA257385 | IMPDH1 | c.818G>C (p.Arg273Pro) n.801G>C c.926G>C (p.Arg309Pro) c.558G>C c.896G>C (p.Arg299Pro) c.827G>C (p.Arg276Pro) n.515G>C c.691G>C c.668G>C (p.Arg223Pro) c.656G>C (p.Arg219Pro) c.801G>C (n.801G>C) c.596G>C (p.Arg199Pro) c.719G>C (p.Arg240Pro) c.671G>C (p.Arg224Pro) c.695G>C (p.Arg232Pro) c.308G>C (p.Arg103Pro) | ClinVar dbSNP |
| 7 | g.128398562C>T | CA369169456 | IMPDH1 | c.818G>A (p.Arg273His) n.801G>A c.926G>A (p.Arg309His) c.558G>A c.896G>A (p.Arg299His) c.827G>A (p.Arg276His) n.515G>A c.691G>A c.668G>A (p.Arg223His) c.656G>A (p.Arg219His) c.801G>A (n.801G>A) c.596G>A (p.Arg199His) c.719G>A (p.Arg240His) c.671G>A (p.Arg224His) c.695G>A (p.Arg232His) c.308G>A (p.Arg103His) | dbSNP gnomAD v4 |
| 7 | g.128398563G>A | CA4470985 | IMPDH1 | c.817C>T (p.Arg273Cys) n.800C>T c.925C>T (p.Arg309Cys) c.557C>T c.895C>T (p.Arg299Cys) c.826C>T (p.Arg276Cys) n.514C>T c.690C>T c.667C>T (p.Arg223Cys) c.655C>T (p.Arg219Cys) c.800C>T (n.800C>T) c.595C>T (p.Arg199Cys) c.718C>T (p.Arg240Cys) c.670C>T (p.Arg224Cys) c.694C>T (p.Arg232Cys) c.307C>T (p.Arg103Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128398563G>C | CA369169459 | IMPDH1 | c.817C>G (p.Arg273Gly) n.800C>G c.925C>G (p.Arg309Gly) c.557C>G c.895C>G (p.Arg299Gly) c.826C>G (p.Arg276Gly) n.514C>G c.690C>G c.667C>G (p.Arg223Gly) c.655C>G (p.Arg219Gly) c.800C>G (n.800C>G) c.595C>G (p.Arg199Gly) c.718C>G (p.Arg240Gly) c.670C>G (p.Arg224Gly) c.694C>G (p.Arg232Gly) c.307C>G (p.Arg103Gly) | ClinVar |
| 7 | g.128398563G= | CA1742328411 | IMPDH1 | c.817C= (p.Arg273=) n.800C= c.925C= (p.Arg309=) c.557C= c.895C= (p.Arg299=) c.826C= (p.Arg276=) n.514C= c.690C= c.667C= (p.Arg223=) c.655C= (p.Arg219=) c.800C= (n.800C=) c.595C= (p.Arg199=) c.718C= (p.Arg240=) c.670C= (p.Arg224=) c.694C= (p.Arg232=) c.307C= (p.Arg103=) | |
| 7 | g.128398563G>T | CA369169464 | IMPDH1 | c.817C>A (p.Arg273Ser) n.800C>A c.925C>A (p.Arg309Ser) c.557C>A c.895C>A (p.Arg299Ser) c.826C>A (p.Arg276Ser) n.514C>A c.690C>A c.667C>A (p.Arg223Ser) c.655C>A (p.Arg219Ser) c.800C>A (n.800C>A) c.595C>A (p.Arg199Ser) c.718C>A (p.Arg240Ser) c.670C>A (p.Arg224Ser) c.694C>A (p.Arg232Ser) c.307C>A (p.Arg103Ser) | |
| 7 | g.128398564G>A | CA457528367 | IMPDH1 | c.816C>T (p.Ala272=) n.799C>T c.924C>T (p.Ala308=) c.556C>T c.894C>T (p.Ala298=) c.825C>T (p.Ala275=) n.513C>T c.689C>T c.666C>T (p.Ala222=) c.654C>T (p.Ala218=) c.799C>T (n.799C>T) c.594C>T (p.Ala198=) c.717C>T (p.Ala239=) c.669C>T (p.Ala223=) c.693C>T (p.Ala231=) c.306C>T (p.Ala102=) | |
| 7 | g.128398564G>C | CA457528368 | IMPDH1 | c.816C>G (p.Ala272=) n.799C>G c.924C>G (p.Ala308=) c.556C>G c.894C>G (p.Ala298=) c.825C>G (p.Ala275=) n.513C>G c.689C>G c.666C>G (p.Ala222=) c.654C>G (p.Ala218=) c.799C>G (n.799C>G) c.594C>G (p.Ala198=) c.717C>G (p.Ala239=) c.669C>G (p.Ala223=) c.693C>G (p.Ala231=) c.306C>G (p.Ala102=) | |
| 7 | g.128398564G>T | CA457528369 | IMPDH1 | c.816C>A (p.Ala272=) n.799C>A c.924C>A (p.Ala308=) c.556C>A c.894C>A (p.Ala298=) c.825C>A (p.Ala275=) n.513C>A c.689C>A c.666C>A (p.Ala222=) c.654C>A (p.Ala218=) c.799C>A (n.799C>A) c.594C>A (p.Ala198=) c.717C>A (p.Ala239=) c.669C>A (p.Ala223=) c.693C>A (p.Ala231=) c.306C>A (p.Ala102=) | |
| 7 | g.128398565G>A | CA369169469 | IMPDH1 | c.815C>T (p.Ala272Val) n.798C>T c.923C>T (p.Ala308Val) c.555C>T c.893C>T (p.Ala298Val) c.824C>T (p.Ala275Val) n.512C>T c.688C>T c.665C>T (p.Ala222Val) c.653C>T (p.Ala218Val) c.798C>T (n.798C>T) c.593C>T (p.Ala198Val) c.716C>T (p.Ala239Val) c.668C>T (p.Ala223Val) c.692C>T (p.Ala231Val) c.305C>T (p.Ala102Val) | |
| 7 | g.128398565G>C | CA369169468 | IMPDH1 | c.815C>G (p.Ala272Gly) n.798C>G c.923C>G (p.Ala308Gly) c.555C>G c.893C>G (p.Ala298Gly) c.824C>G (p.Ala275Gly) n.512C>G c.688C>G c.665C>G (p.Ala222Gly) c.653C>G (p.Ala218Gly) c.798C>G (n.798C>G) c.593C>G (p.Ala198Gly) c.716C>G (p.Ala239Gly) c.668C>G (p.Ala223Gly) c.692C>G (p.Ala231Gly) c.305C>G (p.Ala102Gly) | |
| 7 | g.128398565G>T | CA369169467 | IMPDH1 | c.815C>A (p.Ala272Asp) n.798C>A c.923C>A (p.Ala308Asp) c.555C>A c.893C>A (p.Ala298Asp) c.824C>A (p.Ala275Asp) n.512C>A c.688C>A c.665C>A (p.Ala222Asp) c.653C>A (p.Ala218Asp) c.798C>A (n.798C>A) c.593C>A (p.Ala198Asp) c.716C>A (p.Ala239Asp) c.668C>A (p.Ala223Asp) c.692C>A (p.Ala231Asp) c.305C>A (p.Ala102Asp) | |
| 7 | g.128398566C>A | CA369169470 | IMPDH1 | c.814G>T (p.Ala272Ser) n.797G>T c.922G>T (p.Ala308Ser) c.554G>T c.892G>T (p.Ala298Ser) c.823G>T (p.Ala275Ser) n.511G>T c.687G>T c.664G>T (p.Ala222Ser) c.652G>T (p.Ala218Ser) c.797G>T (n.797G>T) c.592G>T (p.Ala198Ser) c.715G>T (p.Ala239Ser) c.667G>T (p.Ala223Ser) c.691G>T (p.Ala231Ser) c.304G>T (p.Ala102Ser) | |
| 7 | g.128398566C= | CA1742328423 | IMPDH1 | c.814G= (p.Ala272=) n.797G= c.922G= (p.Ala308=) c.554G= c.892G= (p.Ala298=) c.823G= (p.Ala275=) n.511G= c.687G= c.664G= (p.Ala222=) c.652G= (p.Ala218=) c.797G= (n.797G=) c.592G= (p.Ala198=) c.715G= (p.Ala239=) c.667G= (p.Ala223=) c.691G= (p.Ala231=) c.304G= (p.Ala102=) | |
| 7 | g.128398566C>G | CA369169472 | IMPDH1 | c.814G>C (p.Ala272Pro) n.797G>C c.922G>C (p.Ala308Pro) c.554G>C c.892G>C (p.Ala298Pro) c.823G>C (p.Ala275Pro) n.511G>C c.687G>C c.664G>C (p.Ala222Pro) c.652G>C (p.Ala218Pro) c.797G>C (n.797G>C) c.592G>C (p.Ala198Pro) c.715G>C (p.Ala239Pro) c.667G>C (p.Ala223Pro) c.691G>C (p.Ala231Pro) c.304G>C (p.Ala102Pro) | |
| 7 | g.128398566C>T | CA369169473 | IMPDH1 | c.814G>A (p.Ala272Thr) n.797G>A c.922G>A (p.Ala308Thr) c.554G>A c.892G>A (p.Ala298Thr) c.823G>A (p.Ala275Thr) n.511G>A c.687G>A c.664G>A (p.Ala222Thr) c.652G>A (p.Ala218Thr) c.797G>A (n.797G>A) c.592G>A (p.Ala198Thr) c.715G>A (p.Ala239Thr) c.667G>A (p.Ala223Thr) c.691G>A (p.Ala231Thr) c.304G>A (p.Ala102Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.128398567G>A | CA4470986 | IMPDH1 | c.813C>T (p.Ile271=) n.796C>T c.921C>T (p.Ile307=) c.553C>T c.891C>T (p.Ile297=) c.822C>T (p.Ile274=) n.510C>T c.686C>T c.663C>T (p.Ile221=) c.651C>T (p.Ile217=) c.796C>T (n.796C>T) c.591C>T (p.Ile197=) c.714C>T (p.Ile238=) c.666C>T (p.Ile222=) c.690C>T (p.Ile230=) c.303C>T (p.Ile101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.128398567G>C | CA369169474 | IMPDH1 | c.813C>G (p.Ile271Met) n.796C>G c.921C>G (p.Ile307Met) c.553C>G c.891C>G (p.Ile297Met) c.822C>G (p.Ile274Met) n.510C>G c.686C>G c.663C>G (p.Ile221Met) c.651C>G (p.Ile217Met) c.796C>G (n.796C>G) c.591C>G (p.Ile197Met) c.714C>G (p.Ile238Met) c.666C>G (p.Ile222Met) c.690C>G (p.Ile230Met) c.303C>G (p.Ile101Met) | |
| 7 | g.128398567G= | CA1742328430 | IMPDH1 | c.813C= (p.Ile271=) n.796C= c.921C= (p.Ile307=) c.553C= c.891C= (p.Ile297=) c.822C= (p.Ile274=) n.510C= c.686C= c.663C= (p.Ile221=) c.651C= (p.Ile217=) c.796C= (n.796C=) c.591C= (p.Ile197=) c.714C= (p.Ile238=) c.666C= (p.Ile222=) c.690C= (p.Ile230=) c.303C= (p.Ile101=) | |
| 7 | g.128398567G>T | CA457528373 | IMPDH1 | c.813C>A (p.Ile271=) n.796C>A c.921C>A (p.Ile307=) c.553C>A c.891C>A (p.Ile297=) c.822C>A (p.Ile274=) n.510C>A c.686C>A c.663C>A (p.Ile221=) c.651C>A (p.Ile217=) c.796C>A (n.796C>A) c.591C>A (p.Ile197=) c.714C>A (p.Ile238=) c.666C>A (p.Ile222=) c.690C>A (p.Ile230=) c.303C>A (p.Ile101=) | |
| 7 | g.128398568A>C | CA369169477 | IMPDH1 | c.812T>G (p.Ile271Ser) n.795T>G c.920T>G (p.Ile307Ser) c.552T>G c.890T>G (p.Ile297Ser) c.821T>G (p.Ile274Ser) n.509T>G c.685T>G c.662T>G (p.Ile221Ser) c.650T>G (p.Ile217Ser) c.795T>G (n.795T>G) c.590T>G (p.Ile197Ser) c.713T>G (p.Ile238Ser) c.665T>G (p.Ile222Ser) c.689T>G (p.Ile230Ser) c.302T>G (p.Ile101Ser) | |
| 7 | g.128398568A>G | CA369169480 | IMPDH1 | c.812T>C (p.Ile271Thr) n.795T>C c.920T>C (p.Ile307Thr) c.552T>C c.890T>C (p.Ile297Thr) c.821T>C (p.Ile274Thr) n.509T>C c.685T>C c.662T>C (p.Ile221Thr) c.650T>C (p.Ile217Thr) c.795T>C (n.795T>C) c.590T>C (p.Ile197Thr) c.713T>C (p.Ile238Thr) c.665T>C (p.Ile222Thr) c.689T>C (p.Ile230Thr) c.302T>C (p.Ile101Thr) | |
| 7 | g.128398568A>T | CA369169489 | IMPDH1 | c.812T>A (p.Ile271Asn) n.795T>A c.920T>A (p.Ile307Asn) c.552T>A c.890T>A (p.Ile297Asn) c.821T>A (p.Ile274Asn) n.509T>A c.685T>A c.662T>A (p.Ile221Asn) c.650T>A (p.Ile217Asn) c.795T>A (n.795T>A) c.590T>A (p.Ile197Asn) c.713T>A (p.Ile238Asn) c.665T>A (p.Ile222Asn) c.689T>A (p.Ile230Asn) c.302T>A (p.Ile101Asn) | |
| 7 | g.128398569T>A | CA369169495 | IMPDH1 | c.811A>T (p.Ile271Phe) n.794A>T c.919A>T (p.Ile307Phe) c.551A>T c.889A>T (p.Ile297Phe) c.820A>T (p.Ile274Phe) n.508A>T c.684A>T c.661A>T (p.Ile221Phe) c.649A>T (p.Ile217Phe) c.794A>T (n.794A>T) c.589A>T (p.Ile197Phe) c.712A>T (p.Ile238Phe) c.664A>T (p.Ile222Phe) c.688A>T (p.Ile230Phe) c.301A>T (p.Ile101Phe) | |
| 7 | g.128398569T>C | CA369169497 | IMPDH1 | c.811A>G (p.Ile271Val) n.794A>G c.919A>G (p.Ile307Val) c.551A>G c.889A>G (p.Ile297Val) c.820A>G (p.Ile274Val) n.508A>G c.684A>G c.661A>G (p.Ile221Val) c.649A>G (p.Ile217Val) c.794A>G (n.794A>G) c.589A>G (p.Ile197Val) c.712A>G (p.Ile238Val) c.664A>G (p.Ile222Val) c.688A>G (p.Ile230Val) c.301A>G (p.Ile101Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128398569T>G | CA369169498 | IMPDH1 | c.811A>C (p.Ile271Leu) n.794A>C c.919A>C (p.Ile307Leu) c.551A>C c.889A>C (p.Ile297Leu) c.820A>C (p.Ile274Leu) n.508A>C c.684A>C c.661A>C (p.Ile221Leu) c.649A>C (p.Ile217Leu) c.794A>C (n.794A>C) c.589A>C (p.Ile197Leu) c.712A>C (p.Ile238Leu) c.664A>C (p.Ile222Leu) c.688A>C (p.Ile230Leu) c.301A>C (p.Ile101Leu) | dbSNP |
| 7 | g.128398569T= | CA1742328436 | IMPDH1 | c.811A= (p.Ile271=) n.794A= c.919A= (p.Ile307=) c.551A= c.889A= (p.Ile297=) c.820A= (p.Ile274=) n.508A= c.684A= c.661A= (p.Ile221=) c.649A= (p.Ile217=) c.794A= (n.794A=) c.589A= (p.Ile197=) c.712A= (p.Ile238=) c.664A= (p.Ile222=) c.688A= (p.Ile230=) c.301A= (p.Ile101=) | |
| 7 | g.128398570G>A | CA457528378 | IMPDH1 | c.810C>T (p.Ile270=) n.793C>T c.918C>T (p.Ile306=) c.550C>T c.888C>T (p.Ile296=) c.819C>T (p.Ile273=) n.507C>T c.683C>T c.660C>T (p.Ile220=) c.648C>T (p.Ile216=) c.793C>T (n.793C>T) c.588C>T (p.Ile196=) c.711C>T (p.Ile237=) c.663C>T (p.Ile221=) c.687C>T (p.Ile229=) c.300C>T (p.Ile100=) | COSMIC |
| 7 | g.128398570G>C | CA369169502 | IMPDH1 | c.810C>G (p.Ile270Met) n.793C>G c.918C>G (p.Ile306Met) c.550C>G c.888C>G (p.Ile296Met) c.819C>G (p.Ile273Met) n.507C>G c.683C>G c.660C>G (p.Ile220Met) c.648C>G (p.Ile216Met) c.793C>G (n.793C>G) c.588C>G (p.Ile196Met) c.711C>G (p.Ile237Met) c.663C>G (p.Ile221Met) c.687C>G (p.Ile229Met) c.300C>G (p.Ile100Met) |