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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107916861_107916886dup | CA4434595 | DLD | c.943_968dup (p.Leu324AspfsTer10) c.*617_*642dup (n.*617_*642dup) c.799_824dup (p.Leu276AspfsTer10) c.874_899dup (p.Leu301AspfsTer10) c.646_671dup (p.Leu225AspfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107916878G>A | CA457109151 | DLD | c.960G>A (p.Lys320=) c.*634G>A (n.*634G>A) c.816G>A (p.Lys272=) c.891G>A (p.Lys297=) c.663G>A (p.Lys221=) | |
| 7 | g.107916878G>C | CA368857672 | DLD | c.960G>C (p.Lys320Asn) c.*634G>C (n.*634G>C) c.816G>C (p.Lys272Asn) c.891G>C (p.Lys297Asn) c.663G>C (p.Lys221Asn) | |
| 7 | g.107916878G= | CA1732859882 | DLD | c.960G= (p.Lys320=) c.*634G= (n.*634G=) c.816G= (p.Lys272=) c.891G= (p.Lys297=) c.663G= (p.Lys221=) | |
| 7 | g.107916878G>T | CA368857673 | DLD | c.960G>T (p.Lys320Asn) c.*634G>T (n.*634G>T) c.816G>T (p.Lys272Asn) c.891G>T (p.Lys297Asn) c.663G>T (p.Lys221Asn) | dbSNP gnomAD v4 |
| 7 | g.107916879A>C | CA368857675 | DLD | c.961A>C (p.Asn321His) c.*635A>C (n.*635A>C) c.817A>C (p.Asn273His) c.892A>C (p.Asn298His) c.664A>C (p.Asn222His) | |
| 7 | g.107916879A>G | CA368857677 | DLD | c.961A>G (p.Asn321Asp) c.*635A>G (n.*635A>G) c.817A>G (p.Asn273Asp) c.892A>G (p.Asn298Asp) c.664A>G (p.Asn222Asp) | |
| 7 | g.107916879A>T | CA368857678 | DLD | c.961A>T (p.Asn321Tyr) c.*635A>T (n.*635A>T) c.817A>T (p.Asn273Tyr) c.892A>T (p.Asn298Tyr) c.664A>T (p.Asn222Tyr) | |
| 7 | g.107916880A= | CA1732859883 | DLD | c.962A= (p.Asn321=) c.*636A= (n.*636A=) c.818A= (p.Asn273=) c.893A= (p.Asn298=) c.665A= (p.Asn222=) | |
| 7 | g.107916880A>C | CA368857680 | DLD | c.962A>C (p.Asn321Thr) c.*636A>C (n.*636A>C) c.818A>C (p.Asn273Thr) c.893A>C (p.Asn298Thr) c.665A>C (p.Asn222Thr) | |
| 7 | g.107916880A>G | CA4434604 | DLD | c.962A>G (p.Asn321Ser) c.*636A>G (n.*636A>G) c.818A>G (p.Asn273Ser) c.893A>G (p.Asn298Ser) c.665A>G (p.Asn222Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107916880A>T | CA368857682 | DLD | c.962A>T (p.Asn321Ile) c.*636A>T (n.*636A>T) c.818A>T (p.Asn273Ile) c.893A>T (p.Asn298Ile) c.665A>T (p.Asn222Ile) | |
| 7 | g.107916881T>A | CA368857683 | DLD | c.963T>A (p.Asn321Lys) c.*637T>A (n.*637T>A) c.819T>A (p.Asn273Lys) c.894T>A (p.Asn298Lys) c.666T>A (p.Asn222Lys) | |
| 7 | g.107916881T>C | CA457109154 | DLD | c.963T>C (p.Asn321=) c.*637T>C (n.*637T>C) c.819T>C (p.Asn273=) c.894T>C (p.Asn298=) c.666T>C (p.Asn222=) | |
| 7 | g.107916881T>G | CA368857684 | DLD | c.963T>G (p.Asn321Lys) c.*637T>G (n.*637T>G) c.819T>G (p.Asn273Lys) c.894T>G (p.Asn298Lys) c.666T>G (p.Asn222Lys) | |
| 7 | g.107916882T>A | CA368857685 | DLD | c.964T>A (p.Leu322Met) c.*638T>A (n.*638T>A) c.820T>A (p.Leu274Met) c.895T>A (p.Leu299Met) c.667T>A (p.Leu223Met) | |
| 7 | g.107916882T>C | CA457109155 | DLD | c.964T>C (p.Leu322=) c.*638T>C (n.*638T>C) c.820T>C (p.Leu274=) c.895T>C (p.Leu299=) c.667T>C (p.Leu223=) | |
| 7 | g.107916882T>G | CA368857687 | DLD | c.964T>G (p.Leu322Val) c.*638T>G (n.*638T>G) c.820T>G (p.Leu274Val) c.895T>G (p.Leu299Val) c.667T>G (p.Leu223Val) | |
| 7 | g.107916883T>A | CA368857688 | DLD | c.965T>A (p.Leu322Ter) c.*639T>A (n.*639T>A) c.821T>A (p.Leu274Ter) c.896T>A (p.Leu299Ter) c.668T>A (p.Leu223Ter) | |
| 7 | g.107916883T>C | CA368857690 | DLD | c.965T>C (p.Leu322Ser) c.*639T>C (n.*639T>C) c.821T>C (p.Leu274Ser) c.896T>C (p.Leu299Ser) c.668T>C (p.Leu223Ser) | |
| 7 | g.107916883T>G | CA368857691 | DLD | c.965T>G (p.Leu322Trp) c.*639T>G (n.*639T>G) c.821T>G (p.Leu274Trp) c.896T>G (p.Leu299Trp) c.668T>G (p.Leu223Trp) | |
| 7 | g.107916884G>A | CA457109156 | DLD | c.966G>A (p.Leu322=) c.*640G>A (n.*640G>A) c.822G>A (p.Leu274=) c.897G>A (p.Leu299=) c.669G>A (p.Leu223=) | |
| 7 | g.107916884G>C | CA368857692 | DLD | c.966G>C (p.Leu322Phe) c.*640G>C (n.*640G>C) c.822G>C (p.Leu274Phe) c.897G>C (p.Leu299Phe) c.669G>C (p.Leu223Phe) | ClinVar gnomAD v4 |
| 7 | g.107916884G>T | CA368857693 | DLD | c.966G>T (p.Leu322Phe) c.*640G>T (n.*640G>T) c.822G>T (p.Leu274Phe) c.897G>T (p.Leu299Phe) c.669G>T (p.Leu223Phe) | |
| 7 | g.107916885G>A | CA368857695 | DLD | c.967G>A (p.Gly323Arg) c.*641G>A (n.*641G>A) c.823G>A (p.Gly275Arg) c.898G>A (p.Gly300Arg) c.670G>A (p.Gly224Arg) | |
| 7 | g.107916885G>C | CA368857697 | DLD | c.967G>C (p.Gly323Arg) c.*641G>C (n.*641G>C) c.823G>C (p.Gly275Arg) c.898G>C (p.Gly300Arg) c.670G>C (p.Gly224Arg) | |
| 7 | g.107916885G>T | CA368857698 | DLD | c.967G>T (p.Gly323Ter) c.*641G>T (n.*641G>T) c.823G>T (p.Gly275Ter) c.898G>T (p.Gly300Ter) c.670G>T (p.Gly224Ter) | |
| 7 | g.107916886G>A | CA368857700 | DLD | c.968G>A (p.Gly323Glu) c.*642G>A (n.*642G>A) c.824G>A (p.Gly275Glu) c.899G>A (p.Gly300Glu) c.671G>A (p.Gly224Glu) | |
| 7 | g.107916886G>C | CA368857701 | DLD | c.968G>C (p.Gly323Ala) c.*642G>C (n.*642G>C) c.824G>C (p.Gly275Ala) c.899G>C (p.Gly300Ala) c.671G>C (p.Gly224Ala) | gnomAD v4 |
| 7 | g.107916886G>T | CA368857703 | DLD | c.968G>T (p.Gly323Val) c.*642G>T (n.*642G>T) c.824G>T (p.Gly275Val) c.899G>T (p.Gly300Val) c.671G>T (p.Gly224Val) | gnomAD v4 |
| 7 | g.107916887A>C | CA457109160 | DLD | c.969A>C (p.Gly323=) c.*643A>C (n.*643A>C) c.825A>C (p.Gly275=) c.900A>C (p.Gly300=) c.672A>C (p.Gly224=) | |
| 7 | g.107916887A>G | CA457109158 | DLD | c.969A>G (p.Gly323=) c.*643A>G (n.*643A>G) c.825A>G (p.Gly275=) c.900A>G (p.Gly300=) c.672A>G (p.Gly224=) | |
| 7 | g.107916887A>T | CA457109157 | DLD | c.969A>T (p.Gly323=) c.*643A>T (n.*643A>T) c.825A>T (p.Gly275=) c.900A>T (p.Gly300=) c.672A>T (p.Gly224=) | |
| 7 | g.107916888C>A | CA368857704 | DLD | c.970C>A (p.Leu324Ile) c.*644C>A (n.*644C>A) c.826C>A (p.Leu276Ile) c.901C>A (p.Leu301Ile) c.673C>A (p.Leu225Ile) | |
| 7 | g.107916888C>G | CA368857706 | DLD | c.970C>G (p.Leu324Val) c.*644C>G (n.*644C>G) c.826C>G (p.Leu276Val) c.901C>G (p.Leu301Val) c.673C>G (p.Leu225Val) | dbSNP |
| 7 | g.107916888C>T | CA457109161 | DLD | c.970C>T (p.Leu324=) c.*644C>T (n.*644C>T) c.826C>T (p.Leu276=) c.901C>T (p.Leu301=) c.673C>T (p.Leu225=) | COSMIC COSMIC |
| 7 | g.107916890_107916898del | CA2684458226 | DLD | c.972_980del (p.Glu325_Leu327del) c.*646_*654del (n.*646_*654del) c.828_836del (p.Glu277_Leu279del) c.903_911del (p.Glu302_Leu304del) c.675_683del (p.Glu226_Leu228del) | gnomAD v4 |
| 7 | g.107916889T>A | CA368857707 | DLD | c.971T>A (p.Leu324Gln) c.*645T>A (n.*645T>A) c.827T>A (p.Leu276Gln) c.902T>A (p.Leu301Gln) c.674T>A (p.Leu225Gln) | |
| 7 | g.107916889T>C | CA368857711 | DLD | c.971T>C (p.Leu324Pro) c.*645T>C (n.*645T>C) c.827T>C (p.Leu276Pro) c.902T>C (p.Leu301Pro) c.674T>C (p.Leu225Pro) | |
| 7 | g.107916889T>G | CA368857709 | DLD | c.971T>G (p.Leu324Arg) c.*645T>G (n.*645T>G) c.827T>G (p.Leu276Arg) c.902T>G (p.Leu301Arg) c.674T>G (p.Leu225Arg) | |
| 7 | g.107916890A= | CA1732859884 | DLD | c.972A= (p.Leu324=) c.*646A= (n.*646A=) c.828A= (p.Leu276=) c.903A= (p.Leu301=) c.675A= (p.Leu225=) | |
| 7 | g.107916890A>C | CA457109162 | DLD | c.972A>C (p.Leu324=) c.*646A>C (n.*646A>C) c.828A>C (p.Leu276=) c.903A>C (p.Leu301=) c.675A>C (p.Leu225=) | |
| 7 | g.107916890A>G | CA457109163 | DLD | c.972A>G (p.Leu324=) c.*646A>G (n.*646A>G) c.828A>G (p.Leu276=) c.903A>G (p.Leu301=) c.675A>G (p.Leu225=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107916890A>T | CA4434605 | DLD | c.972A>T (p.Leu324=) c.*646A>T (n.*646A>T) c.828A>T (p.Leu276=) c.903A>T (p.Leu301=) c.675A>T (p.Leu225=) | dbSNP ExAC gnomAD v2 |
| 7 | g.107916891G>A | CA368857713 | DLD | c.973G>A (p.Glu325Lys) c.*647G>A (n.*647G>A) c.829G>A (p.Glu277Lys) c.904G>A (p.Glu302Lys) c.676G>A (p.Glu226Lys) | |
| 7 | g.107916891G>C | CA368857714 | DLD | c.973G>C (p.Glu325Gln) c.*647G>C (n.*647G>C) c.829G>C (p.Glu277Gln) c.904G>C (p.Glu302Gln) c.676G>C (p.Glu226Gln) | |
| 7 | g.107916891G>T | CA368857715 | DLD | c.973G>T (p.Glu325Ter) c.*647G>T (n.*647G>T) c.829G>T (p.Glu277Ter) c.904G>T (p.Glu302Ter) c.676G>T (p.Glu226Ter) | gnomAD v4 |
| 7 | g.107916892A>C | CA368857717 | DLD | c.974A>C (p.Glu325Ala) c.*648A>C (n.*648A>C) c.830A>C (p.Glu277Ala) c.905A>C (p.Glu302Ala) c.677A>C (p.Glu226Ala) | |
| 7 | g.107916892A>G | CA368857719 | DLD | c.974A>G (p.Glu325Gly) c.*648A>G (n.*648A>G) c.830A>G (p.Glu277Gly) c.905A>G (p.Glu302Gly) c.677A>G (p.Glu226Gly) | |
| 7 | g.107916892A>T | CA368857721 | DLD | c.974A>T (p.Glu325Val) c.*648A>T (n.*648A>T) c.830A>T (p.Glu277Val) c.905A>T (p.Glu302Val) c.677A>T (p.Glu226Val) | |
| 7 | g.107916893A>C | CA368857722 | DLD | c.975A>C (p.Glu325Asp) c.*649A>C (n.*649A>C) c.831A>C (p.Glu277Asp) c.906A>C (p.Glu302Asp) c.678A>C (p.Glu226Asp) | |
| 7 | g.107916893A>G | CA457109164 | DLD | c.975A>G (p.Glu325=) c.*649A>G (n.*649A>G) c.831A>G (p.Glu277=) c.906A>G (p.Glu302=) c.678A>G (p.Glu226=) | |
| 7 | g.107916893A>T | CA368857724 | DLD | c.975A>T (p.Glu325Asp) c.*649A>T (n.*649A>T) c.831A>T (p.Glu277Asp) c.906A>T (p.Glu302Asp) c.678A>T (p.Glu226Asp) | |
| 7 | g.107916894G>A | CA368857725 | DLD | c.976G>A (p.Glu326Lys) c.*650G>A (n.*650G>A) c.832G>A (p.Glu278Lys) c.907G>A (p.Glu303Lys) c.679G>A (p.Glu227Lys) | dbSNP |
| 7 | g.107916894G>C | CA368857726 | DLD | c.976G>C (p.Glu326Gln) c.*650G>C (n.*650G>C) c.832G>C (p.Glu278Gln) c.907G>C (p.Glu303Gln) c.679G>C (p.Glu227Gln) | |
| 7 | g.107916894G= | CA1732859885 | DLD | c.976G= (p.Glu326=) c.*650G= (n.*650G=) c.832G= (p.Glu278=) c.907G= (p.Glu303=) c.679G= (p.Glu227=) | |
| 7 | g.107916894G>T | CA368857727 | DLD | c.976G>T (p.Glu326Ter) c.*650G>T (n.*650G>T) c.832G>T (p.Glu278Ter) c.907G>T (p.Glu303Ter) c.679G>T (p.Glu227Ter) | |
| 7 | g.107916895A>C | CA368857731 | DLD | c.977A>C (p.Glu326Ala) c.*651A>C (n.*651A>C) c.833A>C (p.Glu278Ala) c.908A>C (p.Glu303Ala) c.680A>C (p.Glu227Ala) | |
| 7 | g.107916895A>G | CA368857728 | DLD | c.977A>G (p.Glu326Gly) c.*651A>G (n.*651A>G) c.833A>G (p.Glu278Gly) c.908A>G (p.Glu303Gly) c.680A>G (p.Glu227Gly) | |
| 7 | g.107916895A>T | CA368857730 | DLD | c.977A>T (p.Glu326Val) c.*651A>T (n.*651A>T) c.833A>T (p.Glu278Val) c.908A>T (p.Glu303Val) c.680A>T (p.Glu227Val) | |
| 7 | g.107916896G>A | CA457109167 | DLD | c.978G>A (p.Glu326=) c.*652G>A (n.*652G>A) c.834G>A (p.Glu278=) c.909G>A (p.Glu303=) c.681G>A (p.Glu227=) | ClinVar gnomAD v4 |
| 7 | g.107916896G>C | CA368857732 | DLD | c.978G>C (p.Glu326Asp) c.*652G>C (n.*652G>C) c.834G>C (p.Glu278Asp) c.909G>C (p.Glu303Asp) c.681G>C (p.Glu227Asp) | |
| 7 | g.107916896G>T | CA368857733 | DLD | c.978G>T (p.Glu326Asp) c.*652G>T (n.*652G>T) c.834G>T (p.Glu278Asp) c.909G>T (p.Glu303Asp) c.681G>T (p.Glu227Asp) | |
| 7 | g.107916897C>A | CA368857735 | DLD | c.979C>A (p.Leu327Met) c.*653C>A (n.*653C>A) c.835C>A (p.Leu279Met) c.910C>A (p.Leu304Met) c.682C>A (p.Leu228Met) | |
| 7 | g.107916897C>G | CA368857737 | DLD | c.979C>G (p.Leu327Val) c.*653C>G (n.*653C>G) c.835C>G (p.Leu279Val) c.910C>G (p.Leu304Val) c.682C>G (p.Leu228Val) | |
| 7 | g.107916897C>T | CA457109169 | DLD | c.979C>T (p.Leu327=) c.*653C>T (n.*653C>T) c.835C>T (p.Leu279=) c.910C>T (p.Leu304=) c.682C>T (p.Leu228=) | gnomAD v4 |
| 7 | g.107916898T>A | CA368857739 | DLD | c.980T>A (p.Leu327Gln) c.*654T>A (n.*654T>A) c.836T>A (p.Leu279Gln) c.911T>A (p.Leu304Gln) c.683T>A (p.Leu228Gln) | |
| 7 | g.107916898T>C | CA368857740 | DLD | c.980T>C (p.Leu327Pro) c.*654T>C (n.*654T>C) c.836T>C (p.Leu279Pro) c.911T>C (p.Leu304Pro) c.683T>C (p.Leu228Pro) | |
| 7 | g.107916898T>G | CA368857742 | DLD | c.980T>G (p.Leu327Arg) c.*654T>G (n.*654T>G) c.836T>G (p.Leu279Arg) c.911T>G (p.Leu304Arg) c.683T>G (p.Leu228Arg) | |
| 7 | g.107916899G>A | CA4434606 | DLD | c.981G>A (p.Leu327=) c.*655G>A (n.*655G>A) c.837G>A (p.Leu279=) c.912G>A (p.Leu304=) c.684G>A (p.Leu228=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.107916899G>C | CA457109172 | DLD | c.981G>C (p.Leu327=) c.*655G>C (n.*655G>C) c.837G>C (p.Leu279=) c.912G>C (p.Leu304=) c.684G>C (p.Leu228=) | |
| 7 | g.107916899G= | CA1732859886 | DLD | c.981G= (p.Leu327=) c.*655G= (n.*655G=) c.837G= (p.Leu279=) c.912G= (p.Leu304=) c.684G= (p.Leu228=) | |
| 7 | g.107916899G>T | CA457109173 | DLD | c.981G>T (p.Leu327=) c.*655G>T (n.*655G>T) c.837G>T (p.Leu279=) c.912G>T (p.Leu304=) c.684G>T (p.Leu228=) | dbSNP |
| 7 | g.107916900G>A | CA368857744 | DLD | c.982G>A (p.Gly328Arg) c.*656G>A (n.*656G>A) c.838G>A (p.Gly280Arg) c.913G>A (p.Gly305Arg) c.685G>A (p.Gly229Arg) | |
| 7 | g.107916900G>C | CA368857746 | DLD | c.982G>C (p.Gly328Arg) c.*656G>C (n.*656G>C) c.838G>C (p.Gly280Arg) c.913G>C (p.Gly305Arg) c.685G>C (p.Gly229Arg) | |
| 7 | g.107916900G>T | CA368857747 | DLD | c.982G>T (p.Gly328Ter) c.*656G>T (n.*656G>T) c.838G>T (p.Gly280Ter) c.913G>T (p.Gly305Ter) c.685G>T (p.Gly229Ter) | |
| 7 | g.107916901G>A | CA368857752 | DLD | c.983G>A (p.Gly328Glu) c.*657G>A (n.*657G>A) c.839G>A (p.Gly280Glu) c.914G>A (p.Gly305Glu) c.686G>A (p.Gly229Glu) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107916901G>C | CA368857750 | DLD | c.983G>C (p.Gly328Ala) c.*657G>C (n.*657G>C) c.839G>C (p.Gly280Ala) c.914G>C (p.Gly305Ala) c.686G>C (p.Gly229Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107916901G= | CA1732859887 | DLD | c.983G= (p.Gly328=) c.*657G= (n.*657G=) c.839G= (p.Gly280=) c.914G= (p.Gly305=) c.686G= (p.Gly229=) | |
| 7 | g.107916901G>T | CA368857749 | DLD | c.983G>T (p.Gly328Val) c.*657G>T (n.*657G>T) c.839G>T (p.Gly280Val) c.914G>T (p.Gly305Val) c.686G>T (p.Gly229Val) | dbSNP |
| 7 | g.107916902A>C | CA457109175 | DLD | c.984A>C (p.Gly328=) c.*658A>C (n.*658A>C) c.840A>C (p.Gly280=) c.915A>C (p.Gly305=) c.687A>C (p.Gly229=) | |
| 7 | g.107916902A>G | CA457109176 | DLD | c.984A>G (p.Gly328=) c.*658A>G (n.*658A>G) c.840A>G (p.Gly280=) c.915A>G (p.Gly305=) c.687A>G (p.Gly229=) | |
| 7 | g.107916902A>T | CA457109177 | DLD | c.984A>T (p.Gly328=) c.*658A>T (n.*658A>T) c.840A>T (p.Gly280=) c.915A>T (p.Gly305=) c.687A>T (p.Gly229=) | |
| 7 | g.107916902_107916903insG | CA2684458235 | DLD | c.984_985insG (p.Ile329AspfsTer2) c.*658_*659insG (n.*658_*659insG) c.840_841insG (p.Ile281AspfsTer2) c.915_916insG (p.Ile306AspfsTer2) c.687_688insG (p.Ile230AspfsTer2) | gnomAD v4 |
| 7 | g.107916903A>C | CA368857753 | DLD | c.985A>C (p.Ile329Leu) c.*659A>C (n.*659A>C) c.841A>C (p.Ile281Leu) c.916A>C (p.Ile306Leu) c.688A>C (p.Ile230Leu) | |
| 7 | g.107916903A>G | CA368857755 | DLD | c.985A>G (p.Ile329Val) c.*659A>G (n.*659A>G) c.841A>G (p.Ile281Val) c.916A>G (p.Ile306Val) c.688A>G (p.Ile230Val) | |
| 7 | g.107916903A>T | CA368857756 | DLD | c.985A>T (p.Ile329Phe) c.*659A>T (n.*659A>T) c.841A>T (p.Ile281Phe) c.916A>T (p.Ile306Phe) c.688A>T (p.Ile230Phe) | |
| 7 | g.107916904T>A | CA368857758 | DLD | c.986T>A (p.Ile329Asn) c.*660T>A (n.*660T>A) c.842T>A (p.Ile281Asn) c.917T>A (p.Ile306Asn) c.689T>A (p.Ile230Asn) | |
| 7 | g.107916904T>C | CA368857760 | DLD | c.986T>C (p.Ile329Thr) c.*660T>C (n.*660T>C) c.842T>C (p.Ile281Thr) c.917T>C (p.Ile306Thr) c.689T>C (p.Ile230Thr) | gnomAD v4 |
| 7 | g.107916904T>G | CA368857761 | DLD | c.986T>G (p.Ile329Ser) c.*660T>G (n.*660T>G) c.842T>G (p.Ile281Ser) c.917T>G (p.Ile306Ser) c.689T>G (p.Ile230Ser) | |
| 7 | g.107916905dup | CA2580076203 | DLD | c.987dup (p.Glu330Ter) c.*661dup (n.*661dup) c.843dup (p.Glu282Ter) c.918dup (p.Glu307Ter) c.690dup (p.Glu231Ter) | ClinVar |
| 7 | g.107916905T>A | CA457109178 | DLD | c.987T>A (p.Ile329=) c.*661T>A (n.*661T>A) c.843T>A (p.Ile281=) c.918T>A (p.Ile306=) c.690T>A (p.Ile230=) | |
| 7 | g.107916905T>C | CA457109179 | DLD | c.987T>C (p.Ile329=) c.*661T>C (n.*661T>C) c.843T>C (p.Ile281=) c.918T>C (p.Ile306=) c.690T>C (p.Ile230=) | |
| 7 | g.107916905T>G | CA368857762 | DLD | c.987T>G (p.Ile329Met) c.*661T>G (n.*661T>G) c.843T>G (p.Ile281Met) c.918T>G (p.Ile306Met) c.690T>G (p.Ile230Met) | |
| 7 | g.107916906G>A | CA368857764 | DLD | c.988G>A (p.Glu330Lys) c.*662G>A (n.*662G>A) c.844G>A (p.Glu282Lys) c.919G>A (p.Glu307Lys) c.691G>A (p.Glu231Lys) | |
| 7 | g.107916906G>C | CA368857766 | DLD | c.988G>C (p.Glu330Gln) c.*662G>C (n.*662G>C) c.844G>C (p.Glu282Gln) c.919G>C (p.Glu307Gln) c.691G>C (p.Glu231Gln) | |
| 7 | g.107916906G>T | CA368857767 | DLD | c.988G>T (p.Glu330Ter) c.*662G>T (n.*662G>T) c.844G>T (p.Glu282Ter) c.919G>T (p.Glu307Ter) c.691G>T (p.Glu231Ter) | ClinVar |
| 7 | g.107916907A>C | CA368857769 | DLD | c.989A>C (p.Glu330Ala) c.*663A>C (n.*663A>C) c.845A>C (p.Glu282Ala) c.920A>C (p.Glu307Ala) c.692A>C (p.Glu231Ala) | |
| 7 | g.107916907A>G | CA368857770 | DLD | c.989A>G (p.Glu330Gly) c.*663A>G (n.*663A>G) c.845A>G (p.Glu282Gly) c.920A>G (p.Glu307Gly) c.692A>G (p.Glu231Gly) | |
| 7 | g.107916907A>T | CA368857771 | DLD | c.989A>T (p.Glu330Val) c.*663A>T (n.*663A>T) c.845A>T (p.Glu282Val) c.920A>T (p.Glu307Val) c.692A>T (p.Glu231Val) | |
| 7 | g.107916908A>C | CA368857774 | DLD | c.990A>C (p.Glu330Asp) c.*664A>C (n.*664A>C) c.846A>C (p.Glu282Asp) c.921A>C (p.Glu307Asp) c.693A>C (p.Glu231Asp) | |
| 7 | g.107916908A>G | CA457109180 | DLD | c.990A>G (p.Glu330=) c.*664A>G (n.*664A>G) c.846A>G (p.Glu282=) c.921A>G (p.Glu307=) c.693A>G (p.Glu231=) | |
| 7 | g.107916908A>T | CA368857772 | DLD | c.990A>T (p.Glu330Asp) c.*664A>T (n.*664A>T) c.846A>T (p.Glu282Asp) c.921A>T (p.Glu307Asp) c.693A>T (p.Glu231Asp) | |
| 7 | g.107916909C>A | CA368857776 | DLD | c.991C>A (p.Leu331Ile) c.*665C>A (n.*665C>A) c.847C>A (p.Leu283Ile) c.922C>A (p.Leu308Ile) c.694C>A (p.Leu232Ile) | |
| 7 | g.107916909C= | CA1732859888 | DLD | c.991C= (p.Leu331=) c.*665C= (n.*665C=) c.847C= (p.Leu283=) c.922C= (p.Leu308=) c.694C= (p.Leu232=) | |
| 7 | g.107916909C>G | CA4434607 | DLD | c.991C>G (p.Leu331Val) c.*665C>G (n.*665C>G) c.847C>G (p.Leu283Val) c.922C>G (p.Leu308Val) c.694C>G (p.Leu232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107916909C>T | CA457109181 | DLD | c.991C>T (p.Leu331=) c.*665C>T (n.*665C>T) c.847C>T (p.Leu283=) c.922C>T (p.Leu308=) c.694C>T (p.Leu232=) | |
| 7 | g.107916910T>A | CA368857778 | DLD | c.992T>A (p.Leu331Gln) c.*666T>A (n.*666T>A) c.848T>A (p.Leu283Gln) c.923T>A (p.Leu308Gln) c.695T>A (p.Leu232Gln) | |
| 7 | g.107916910T>C | CA368857779 | DLD | c.992T>C (p.Leu331Pro) c.*666T>C (n.*666T>C) c.848T>C (p.Leu283Pro) c.923T>C (p.Leu308Pro) c.695T>C (p.Leu232Pro) | |
| 7 | g.107916910T>G | CA368857780 | DLD | c.992T>G (p.Leu331Arg) c.*666T>G (n.*666T>G) c.848T>G (p.Leu283Arg) c.923T>G (p.Leu308Arg) c.695T>G (p.Leu232Arg) | gnomAD v4 |
| 7 | g.107916911A>C | CA457109182 | DLD | c.993A>C (p.Leu331=) c.*667A>C (n.*667A>C) c.849A>C (p.Leu283=) c.924A>C (p.Leu308=) c.696A>C (p.Leu232=) | |
| 7 | g.107916911A>G | CA457109183 | DLD | c.993A>G (p.Leu331=) c.*667A>G (n.*667A>G) c.849A>G (p.Leu283=) c.924A>G (p.Leu308=) c.696A>G (p.Leu232=) | gnomAD v4 |
| 7 | g.107916911A>T | CA457109184 | DLD | c.993A>T (p.Leu331=) c.*667A>T (n.*667A>T) c.849A>T (p.Leu283=) c.924A>T (p.Leu308=) c.696A>T (p.Leu232=) | |
| 7 | g.107916912G>A | CA164258273 | DLD | c.994G>A (p.Asp332Asn) c.*668G>A (n.*668G>A) c.850G>A (p.Asp284Asn) c.925G>A (p.Asp309Asn) c.697G>A (p.Asp233Asn) | dbSNP gnomAD v4 |
| 7 | g.107916912G>C | CA368857782 | DLD | c.994G>C (p.Asp332His) c.*668G>C (n.*668G>C) c.850G>C (p.Asp284His) c.925G>C (p.Asp309His) c.697G>C (p.Asp233His) | |
| 7 | g.107916912G= | CA1732859889 | DLD | c.994G= (p.Asp332=) c.*668G= (n.*668G=) c.850G= (p.Asp284=) c.925G= (p.Asp309=) c.697G= (p.Asp233=) | |
| 7 | g.107916912G>T | CA368857784 | DLD | c.994G>T (p.Asp332Tyr) c.*668G>T (n.*668G>T) c.850G>T (p.Asp284Tyr) c.925G>T (p.Asp309Tyr) c.697G>T (p.Asp233Tyr) | |
| 7 | g.107916913A>C | CA368857785 | DLD | c.995A>C (p.Asp332Ala) c.*669A>C (n.*669A>C) c.851A>C (p.Asp284Ala) c.926A>C (p.Asp309Ala) c.698A>C (p.Asp233Ala) | |
| 7 | g.107916913A>G | CA368857787 | DLD | c.995A>G (p.Asp332Gly) c.*669A>G (n.*669A>G) c.851A>G (p.Asp284Gly) c.926A>G (p.Asp309Gly) c.698A>G (p.Asp233Gly) | |
| 7 | g.107916913A>T | CA368857788 | DLD | c.995A>T (p.Asp332Val) c.*669A>T (n.*669A>T) c.851A>T (p.Asp284Val) c.926A>T (p.Asp309Val) c.698A>T (p.Asp233Val) | |
| 7 | g.107916914T>A | CA368857789 | DLD | c.996T>A (p.Asp332Glu) c.*670T>A (n.*670T>A) c.852T>A (p.Asp284Glu) c.927T>A (p.Asp309Glu) c.699T>A (p.Asp233Glu) | |
| 7 | g.107916914T>C | CA457109185 | DLD | c.996T>C (p.Asp332=) c.*670T>C (n.*670T>C) c.852T>C (p.Asp284=) c.927T>C (p.Asp309=) c.699T>C (p.Asp233=) | |
| 7 | g.107916914T>G | CA368857791 | DLD | c.996T>G (p.Asp332Glu) c.*670T>G (n.*670T>G) c.852T>G (p.Asp284Glu) c.927T>G (p.Asp309Glu) c.699T>G (p.Asp233Glu) | |
| 7 | g.107916915C>A | CA368857796 | DLD | c.997C>A (p.Pro333Thr) c.*671C>A (n.*671C>A) c.853C>A (p.Pro285Thr) c.928C>A (p.Pro310Thr) c.700C>A (p.Pro234Thr) | |
| 7 | g.107916915C= | CA1732859890 | DLD | c.997C= (p.Pro333=) c.*671C= (n.*671C=) c.853C= (p.Pro285=) c.928C= (p.Pro310=) c.700C= (p.Pro234=) | |
| 7 | g.107916915C>G | CA368857795 | DLD | c.997C>G (p.Pro333Ala) c.*671C>G (n.*671C>G) c.853C>G (p.Pro285Ala) c.928C>G (p.Pro310Ala) c.700C>G (p.Pro234Ala) | |
| 7 | g.107916915C>T | CA368857793 | DLD | c.997C>T (p.Pro333Ser) c.*671C>T (n.*671C>T) c.853C>T (p.Pro285Ser) c.928C>T (p.Pro310Ser) c.700C>T (p.Pro234Ser) | dbSNP COSMIC COSMIC |
| 7 | g.107916916C>A | CA368857797 | DLD | c.998C>A (p.Pro333His) c.*672C>A (n.*672C>A) c.854C>A (p.Pro285His) c.929C>A (p.Pro310His) c.701C>A (p.Pro234His) | |
| 7 | g.107916916C>G | CA368857800 | DLD | c.998C>G (p.Pro333Arg) c.*672C>G (n.*672C>G) c.854C>G (p.Pro285Arg) c.929C>G (p.Pro310Arg) c.701C>G (p.Pro234Arg) | |
| 7 | g.107916916C>T | CA368857799 | DLD | c.998C>T (p.Pro333Leu) c.*672C>T (n.*672C>T) c.854C>T (p.Pro285Leu) c.929C>T (p.Pro310Leu) c.701C>T (p.Pro234Leu) | |
| 7 | g.107916917C>A | CA457109186 | DLD | c.999C>A (p.Pro333=) c.*673C>A (n.*673C>A) c.855C>A (p.Pro285=) c.930C>A (p.Pro310=) c.702C>A (p.Pro234=) | |
| 7 | g.107916917C= | CA1732859891 | DLD | c.999C= (p.Pro333=) c.*673C= (n.*673C=) c.855C= (p.Pro285=) c.930C= (p.Pro310=) c.702C= (p.Pro234=) | |
| 7 | g.107916917C>G | CA457109187 | DLD | c.999C>G (p.Pro333=) c.*673C>G (n.*673C>G) c.855C>G (p.Pro285=) c.930C>G (p.Pro310=) c.702C>G (p.Pro234=) | ClinVar |
| 7 | g.107916917C>T | CA164258277 | DLD | c.999C>T (p.Pro333=) c.*673C>T (n.*673C>T) c.855C>T (p.Pro285=) c.930C>T (p.Pro310=) c.702C>T (p.Pro234=) | dbSNP |
| 7 | g.107916918A= | CA1732859892 | DLD | c.1000A= (p.Arg334=) c.*674A= (n.*674A=) c.856A= (p.Arg286=) c.931A= (p.Arg311=) c.703A= (p.Arg235=) | |
| 7 | g.107916918A>C | CA457109188 | DLD | c.1000A>C (p.Arg334=) c.*674A>C (n.*674A>C) c.856A>C (p.Arg286=) c.931A>C (p.Arg311=) c.703A>C (p.Arg235=) | |
| 7 | g.107916918A>G | CA368857802 | DLD | c.1000A>G (p.Arg334Gly) c.*674A>G (n.*674A>G) c.856A>G (p.Arg286Gly) c.931A>G (p.Arg311Gly) c.703A>G (p.Arg235Gly) | dbSNP gnomAD v4 |
| 7 | g.107916918A>T | CA368857803 | DLD | c.1000A>T (p.Arg334Ter) c.*674A>T (n.*674A>T) c.856A>T (p.Arg286Ter) c.931A>T (p.Arg311Ter) c.703A>T (p.Arg235Ter) | gnomAD v4 |
| 7 | g.107916919G>A | CA368857805 | DLD | c.1001G>A (p.Arg334Lys) c.*675G>A (n.*675G>A) c.857G>A (p.Arg286Lys) c.932G>A (p.Arg311Lys) c.704G>A (p.Arg235Lys) | |
| 7 | g.107916919G>C | CA368857807 | DLD | c.1001G>C (p.Arg334Thr) c.*675G>C (n.*675G>C) c.857G>C (p.Arg286Thr) c.932G>C (p.Arg311Thr) c.704G>C (p.Arg235Thr) | |
| 7 | g.107916919G>T | CA368857808 | DLD | c.1001G>T (p.Arg334Ile) c.*675G>T (n.*675G>T) c.857G>T (p.Arg286Ile) c.932G>T (p.Arg311Ile) c.704G>T (p.Arg235Ile) | |
| 7 | g.107916920A>C | CA368857810 | DLD | c.1002A>C (p.Arg334Ser) c.*676A>C (n.*676A>C) c.858A>C (p.Arg286Ser) c.933A>C (p.Arg311Ser) c.705A>C (p.Arg235Ser) | |
| 7 | g.107916920A>G | CA457109189 | DLD | c.1002A>G (p.Arg334=) c.*676A>G (n.*676A>G) c.858A>G (p.Arg286=) c.933A>G (p.Arg311=) c.705A>G (p.Arg235=) | |
| 7 | g.107916920A>T | CA368857811 | DLD | c.1002A>T (p.Arg334Ser) c.*676A>T (n.*676A>T) c.858A>T (p.Arg286Ser) c.933A>T (p.Arg311Ser) c.705A>T (p.Arg235Ser) | |
| 7 | g.107916921G>A | CA368857813 | DLD | c.1003G>A (p.Gly335Ser) c.*677G>A (n.*677G>A) c.859G>A (p.Gly287Ser) c.934G>A (p.Gly312Ser) c.706G>A (p.Gly236Ser) | gnomAD v4 |
| 7 | g.107916921G>C | CA368857814 | DLD | c.1003G>C (p.Gly335Arg) c.*677G>C (n.*677G>C) c.859G>C (p.Gly287Arg) c.934G>C (p.Gly312Arg) c.706G>C (p.Gly236Arg) | |
| 7 | g.107916921G>T | CA368857816 | DLD | c.1003G>T (p.Gly335Cys) c.*677G>T (n.*677G>T) c.859G>T (p.Gly287Cys) c.934G>T (p.Gly312Cys) c.706G>T (p.Gly236Cys) | |
| 7 | g.107916922G>A | CA368857817 | DLD | c.1004G>A (p.Gly335Asp) c.*678G>A (n.*678G>A) c.860G>A (p.Gly287Asp) c.935G>A (p.Gly312Asp) c.707G>A (p.Gly236Asp) | dbSNP gnomAD v4 |
| 7 | g.107916922G>C | CA368857819 | DLD | c.1004G>C (p.Gly335Ala) c.*678G>C (n.*678G>C) c.860G>C (p.Gly287Ala) c.935G>C (p.Gly312Ala) c.707G>C (p.Gly236Ala) | |
| 7 | g.107916922G= | CA1732859893 | DLD | c.1004G= (p.Gly335=) c.*678G= (n.*678G=) c.860G= (p.Gly287=) c.935G= (p.Gly312=) c.707G= (p.Gly236=) | |
| 7 | g.107916922G>T | CA368857820 | DLD | c.1004G>T (p.Gly335Val) c.*678G>T (n.*678G>T) c.860G>T (p.Gly287Val) c.935G>T (p.Gly312Val) c.707G>T (p.Gly236Val) | |
| 7 | g.107916923T>A | CA457109190 | DLD | c.1005T>A (p.Gly335=) c.*679T>A (n.*679T>A) c.861T>A (p.Gly287=) c.936T>A (p.Gly312=) c.708T>A (p.Gly236=) | |
| 7 | g.107916923T>C | CA4434608 | DLD | c.1005T>C (p.Gly335=) c.*679T>C (n.*679T>C) c.861T>C (p.Gly287=) c.936T>C (p.Gly312=) c.708T>C (p.Gly236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107916923T>G | CA457109191 | DLD | c.1005T>G (p.Gly335=) c.*679T>G (n.*679T>G) c.861T>G (p.Gly287=) c.936T>G (p.Gly312=) c.708T>G (p.Gly236=) | |
| 7 | g.107916923T= | CA1732859894 | DLD | c.1005T= (p.Gly335=) c.*679T= (n.*679T=) c.861T= (p.Gly287=) c.936T= (p.Gly312=) c.708T= (p.Gly236=) | |
| 7 | g.107916924A= | CA1732859895 | DLD | c.1006A= (p.Arg336=) c.*680A= (n.*680A=) c.862A= (p.Arg288=) c.937A= (p.Arg313=) c.709A= (p.Arg237=) | |
| 7 | g.107916924A>C | CA457109192 | DLD | c.1006A>C (p.Arg336=) c.*680A>C (n.*680A>C) c.862A>C (p.Arg288=) c.937A>C (p.Arg313=) c.709A>C (p.Arg237=) | |
| 7 | g.107916924A>G | CA4434609 | DLD | c.1006A>G (p.Arg336Gly) c.*680A>G (n.*680A>G) c.862A>G (p.Arg288Gly) c.937A>G (p.Arg313Gly) c.709A>G (p.Arg237Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.107916924A>T | CA368857823 | DLD | c.1006A>T (p.Arg336Ter) c.*680A>T (n.*680A>T) c.862A>T (p.Arg288Ter) c.937A>T (p.Arg313Ter) c.709A>T (p.Arg237Ter) | |
| 7 | g.107916925G>A | CA368857824 | DLD | c.1007G>A (p.Arg336Lys) c.*681G>A (n.*681G>A) c.863G>A (p.Arg288Lys) c.938G>A (p.Arg313Lys) c.710G>A (p.Arg237Lys) | |
| 7 | g.107916925G>C | CA368857825 | DLD | c.1007G>C (p.Arg336Thr) c.*681G>C (n.*681G>C) c.863G>C (p.Arg288Thr) c.938G>C (p.Arg313Thr) c.710G>C (p.Arg237Thr) | |
| 7 | g.107916925G>T | CA368857826 | DLD | c.1007G>T (p.Arg336Ile) c.*681G>T (n.*681G>T) c.863G>T (p.Arg288Ile) c.938G>T (p.Arg313Ile) c.710G>T (p.Arg237Ile) | |
| 7 | g.107916926A= | CA1732859896 | DLD | c.1008A= (p.Arg336=) c.*682A= (n.*682A=) c.864A= (p.Arg288=) c.939A= (p.Arg313=) c.711A= (p.Arg237=) | |
| 7 | g.107916926A>C | CA368857827 | DLD | c.1008A>C (p.Arg336Ser) c.*682A>C (n.*682A>C) c.864A>C (p.Arg288Ser) c.939A>C (p.Arg313Ser) c.711A>C (p.Arg237Ser) | |
| 7 | g.107916926A>G | CA457109193 | DLD | c.1008A>G (p.Arg336=) c.*682A>G (n.*682A>G) c.864A>G (p.Arg288=) c.939A>G (p.Arg313=) c.711A>G (p.Arg237=) | dbSNP |
| 7 | g.107916926A>T | CA368857828 | DLD | c.1008A>T (p.Arg336Ser) c.*682A>T (n.*682A>T) c.864A>T (p.Arg288Ser) c.939A>T (p.Arg313Ser) c.711A>T (p.Arg237Ser) | |
| 7 | g.107916927A>C | CA368857829 | DLD | c.1009A>C (p.Ile337Leu) c.*683A>C (n.*683A>C) c.865A>C (p.Ile289Leu) c.940A>C (p.Ile314Leu) c.712A>C (p.Ile238Leu) | |
| 7 | g.107916927A>G | CA368857831 | DLD | c.1009A>G (p.Ile337Val) c.*683A>G (n.*683A>G) c.865A>G (p.Ile289Val) c.940A>G (p.Ile314Val) c.712A>G (p.Ile238Val) | |
| 7 | g.107916927A>T | CA368857833 | DLD | c.1009A>T (p.Ile337Phe) c.*683A>T (n.*683A>T) c.865A>T (p.Ile289Phe) c.940A>T (p.Ile314Phe) c.712A>T (p.Ile238Phe) | |
| 7 | g.107916928T>A | CA368857834 | DLD | c.1010T>A (p.Ile337Asn) c.*684T>A (n.*684T>A) c.866T>A (p.Ile289Asn) c.941T>A (p.Ile314Asn) c.713T>A (p.Ile238Asn) | |
| 7 | g.107916928T>C | CA368857835 | DLD | c.1010T>C (p.Ile337Thr) c.*684T>C (n.*684T>C) c.866T>C (p.Ile289Thr) c.941T>C (p.Ile314Thr) c.713T>C (p.Ile238Thr) | |
| 7 | g.107916928T>G | CA368857837 | DLD | c.1010T>G (p.Ile337Ser) c.*684T>G (n.*684T>G) c.866T>G (p.Ile289Ser) c.941T>G (p.Ile314Ser) c.713T>G (p.Ile238Ser) | |
| 7 | g.107916929T>A | CA457109194 | DLD | c.1011T>A (p.Ile337=) c.*685T>A (n.*685T>A) c.867T>A (p.Ile289=) c.942T>A (p.Ile314=) c.714T>A (p.Ile238=) | |
| 7 | g.107916929T>C | CA4434610 | DLD | c.1011T>C (p.Ile337=) c.*685T>C (n.*685T>C) c.867T>C (p.Ile289=) c.942T>C (p.Ile314=) c.714T>C (p.Ile238=) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.107916929T>G | CA368857840 | DLD | c.1011T>G (p.Ile337Met) c.*685T>G (n.*685T>G) c.867T>G (p.Ile289Met) c.942T>G (p.Ile314Met) c.714T>G (p.Ile238Met) | gnomAD v4 |
| 7 | g.107916929T= | CA1732859897 | DLD | c.1011T= (p.Ile337=) c.*685T= (n.*685T=) c.867T= (p.Ile289=) c.942T= (p.Ile314=) c.714T= (p.Ile238=) | |
| 7 | g.107916930C>A | CA368857841 | DLD | c.1012C>A (p.Pro338Thr) c.*686C>A (n.*686C>A) c.868C>A (p.Pro290Thr) c.943C>A (p.Pro315Thr) c.715C>A (p.Pro239Thr) | |
| 7 | g.107916930C>G | CA368857843 | DLD | c.1012C>G (p.Pro338Ala) c.*686C>G (n.*686C>G) c.868C>G (p.Pro290Ala) c.943C>G (p.Pro315Ala) c.715C>G (p.Pro239Ala) | gnomAD v4 |
| 7 | g.107916930C>T | CA368857844 | DLD | c.1012C>T (p.Pro338Ser) c.*686C>T (n.*686C>T) c.868C>T (p.Pro290Ser) c.943C>T (p.Pro315Ser) c.715C>T (p.Pro239Ser) | |
| 7 | g.107916931C>A | CA368857846 | DLD | c.1013C>A (p.Pro338Gln) c.*687C>A (n.*687C>A) c.869C>A (p.Pro290Gln) c.944C>A (p.Pro315Gln) c.716C>A (p.Pro239Gln) | |
| 7 | g.107916931C= | CA1732859898 | DLD | c.1013C= (p.Pro338=) c.*687C= (n.*687C=) c.869C= (p.Pro290=) c.944C= (p.Pro315=) c.716C= (p.Pro239=) | |
| 7 | g.107916931C>G | CA368857847 | DLD | c.1013C>G (p.Pro338Arg) c.*687C>G (n.*687C>G) c.869C>G (p.Pro290Arg) c.944C>G (p.Pro315Arg) c.716C>G (p.Pro239Arg) | |
| 7 | g.107916931C>T | CA368857848 | DLD | c.1013C>T (p.Pro338Leu) c.*687C>T (n.*687C>T) c.869C>T (p.Pro290Leu) c.944C>T (p.Pro315Leu) c.716C>T (p.Pro239Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107916932A= | CA1732859899 | DLD | c.1014A= (p.Pro338=) c.*688A= (n.*688A=) c.870A= (p.Pro290=) c.945A= (p.Pro315=) c.717A= (p.Pro239=) | |
| 7 | g.107916932A>C | CA457109195 | DLD | c.1014A>C (p.Pro338=) c.*688A>C (n.*688A>C) c.870A>C (p.Pro290=) c.945A>C (p.Pro315=) c.717A>C (p.Pro239=) | |
| 7 | g.107916932A>G | CA4434611 | DLD | c.1014A>G (p.Pro338=) c.*688A>G (n.*688A>G) c.870A>G (p.Pro290=) c.945A>G (p.Pro315=) c.717A>G (p.Pro239=) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.107916932A>T | CA457109196 | DLD | c.1014A>T (p.Pro338=) c.*688A>T (n.*688A>T) c.870A>T (p.Pro290=) c.945A>T (p.Pro315=) c.717A>T (p.Pro239=) | |
| 7 | g.107916933G>A | CA368857851 | DLD | c.1015G>A (p.Val339Ile) c.*689G>A (n.*689G>A) c.871G>A (p.Val291Ile) c.946G>A (p.Val316Ile) c.718G>A (p.Val240Ile) | |
| 7 | g.107916933G>C | CA368857852 | DLD | c.1015G>C (p.Val339Leu) c.*689G>C (n.*689G>C) c.871G>C (p.Val291Leu) c.946G>C (p.Val316Leu) c.718G>C (p.Val240Leu) | |
| 7 | g.107916933G>T | CA368857854 | DLD | c.1015G>T (p.Val339Phe) c.*689G>T (n.*689G>T) c.871G>T (p.Val291Phe) c.946G>T (p.Val316Phe) c.718G>T (p.Val240Phe) | |
| 7 | g.107916934del | CA2695199606 | DLD | c.1016del (p.Val339AlafsTer18) c.*690del (n.*690del) c.872del (p.Val291AlafsTer18) c.947del (p.Val316AlafsTer18) c.719del (p.Val240AlafsTer18) | ClinVar |
| 7 | g.107916934T>A | CA368857855 | DLD | c.1016T>A (p.Val339Asp) c.*690T>A (n.*690T>A) c.872T>A (p.Val291Asp) c.947T>A (p.Val316Asp) c.719T>A (p.Val240Asp) | dbSNP |
| 7 | g.107916934T>C | CA368857857 | DLD | c.1016T>C (p.Val339Ala) c.*690T>C (n.*690T>C) c.872T>C (p.Val291Ala) c.947T>C (p.Val316Ala) c.719T>C (p.Val240Ala) | |
| 7 | g.107916934T>G | CA368857859 | DLD | c.1016T>G (p.Val339Gly) c.*690T>G (n.*690T>G) c.872T>G (p.Val291Gly) c.947T>G (p.Val316Gly) c.719T>G (p.Val240Gly) | |
| 7 | g.107916934T= | CA1732859900 | DLD | c.1016T= (p.Val339=) c.*690T= (n.*690T=) c.872T= (p.Val291=) c.947T= (p.Val316=) c.719T= (p.Val240=) | |
| 7 | g.107916935C>A | CA457109197 | DLD | c.1017C>A (p.Val339=) c.*691C>A (n.*691C>A) c.873C>A (p.Val291=) c.948C>A (p.Val316=) c.720C>A (p.Val240=) | |
| 7 | g.107916935C= | CA1732859901 | DLD | c.1017C= (p.Val339=) c.*691C= (n.*691C=) c.873C= (p.Val291=) c.948C= (p.Val316=) c.720C= (p.Val240=) | |
| 7 | g.107916935C>G | CA457109198 | DLD | c.1017C>G (p.Val339=) c.*691C>G (n.*691C>G) c.873C>G (p.Val291=) c.948C>G (p.Val316=) c.720C>G (p.Val240=) | |
| 7 | g.107916935C>T | CA457109199 | DLD | c.1017C>T (p.Val339=) c.*691C>T (n.*691C>T) c.873C>T (p.Val291=) c.948C>T (p.Val316=) c.720C>T (p.Val240=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107916936A>C | CA368857862 | DLD | c.1018A>C (p.Asn340His) c.*692A>C (n.*692A>C) c.874A>C (p.Asn292His) c.949A>C (p.Asn317His) c.721A>C (p.Asn241His) | |
| 7 | g.107916936A>G | CA368857863 | DLD | c.1018A>G (p.Asn340Asp) c.*692A>G (n.*692A>G) c.874A>G (p.Asn292Asp) c.949A>G (p.Asn317Asp) c.721A>G (p.Asn241Asp) | |
| 7 | g.107916936A>T | CA368857860 | DLD | c.1018A>T (p.Asn340Tyr) c.*692A>T (n.*692A>T) c.874A>T (p.Asn292Tyr) c.949A>T (p.Asn317Tyr) c.721A>T (p.Asn241Tyr) | |
| 7 | g.107916937A= | CA1732859902 | DLD | c.1019A= (p.Asn340=) c.*693A= (n.*693A=) c.875A= (p.Asn292=) c.950A= (p.Asn317=) c.722A= (p.Asn241=) | |
| 7 | g.107916937A>C | CA4434612 | DLD | c.1019A>C (p.Asn340Thr) c.*693A>C (n.*693A>C) c.875A>C (p.Asn292Thr) c.950A>C (p.Asn317Thr) c.722A>C (p.Asn241Thr) | dbSNP ExAC gnomAD v2 |
| 7 | g.107916937A>G | CA368857865 | DLD | c.1019A>G (p.Asn340Ser) c.*693A>G (n.*693A>G) c.875A>G (p.Asn292Ser) c.950A>G (p.Asn317Ser) c.722A>G (p.Asn241Ser) | gnomAD v4 |
| 7 | g.107916937A>T | CA368857866 | DLD | c.1019A>T (p.Asn340Ile) c.*693A>T (n.*693A>T) c.875A>T (p.Asn292Ile) c.950A>T (p.Asn317Ile) c.722A>T (p.Asn241Ile) | |
| 7 | g.107916938T>A | CA368857867 | DLD | c.1020T>A (p.Asn340Lys) c.*694T>A (n.*694T>A) c.876T>A (p.Asn292Lys) c.951T>A (p.Asn317Lys) c.723T>A (p.Asn241Lys) | |
| 7 | g.107916938T>C | CA457109200 | DLD | c.1020T>C (p.Asn340=) c.*694T>C (n.*694T>C) c.876T>C (p.Asn292=) c.951T>C (p.Asn317=) c.723T>C (p.Asn241=) | |
| 7 | g.107916938T>G | CA368857868 | DLD | c.1020T>G (p.Asn340Lys) c.*694T>G (n.*694T>G) c.876T>G (p.Asn292Lys) c.951T>G (p.Asn317Lys) c.723T>G (p.Asn241Lys) | |
| 7 | g.107916939A>C | CA368857873 | DLD | c.1021A>C (p.Thr341Pro) c.*695A>C (n.*695A>C) c.877A>C (p.Thr293Pro) c.952A>C (p.Thr318Pro) c.724A>C (p.Thr242Pro) | |
| 7 | g.107916939A>G | CA368857870 | DLD | c.1021A>G (p.Thr341Ala) c.*695A>G (n.*695A>G) c.877A>G (p.Thr293Ala) c.952A>G (p.Thr318Ala) c.724A>G (p.Thr242Ala) | |
| 7 | g.107916939A>T | CA368857872 | DLD | c.1021A>T (p.Thr341Ser) c.*695A>T (n.*695A>T) c.877A>T (p.Thr293Ser) c.952A>T (p.Thr318Ser) c.724A>T (p.Thr242Ser) | |
| 7 | g.107916940C>A | CA368857875 | DLD | c.1022C>A (p.Thr341Asn) c.*696C>A (n.*696C>A) c.878C>A (p.Thr293Asn) c.953C>A (p.Thr318Asn) c.725C>A (p.Thr242Asn) | dbSNP |
| 7 | g.107916940C= | CA1732859903 | DLD | c.1022C= (p.Thr341=) c.*696C= (n.*696C=) c.878C= (p.Thr293=) c.953C= (p.Thr318=) c.725C= (p.Thr242=) | |
| 7 | g.107916940C>G | CA368857876 | DLD | c.1022C>G (p.Thr341Ser) c.*696C>G (n.*696C>G) c.878C>G (p.Thr293Ser) c.953C>G (p.Thr318Ser) c.725C>G (p.Thr242Ser) | |
| 7 | g.107916940C>T | CA368857878 | DLD | c.1022C>T (p.Thr341Ile) c.*696C>T (n.*696C>T) c.878C>T (p.Thr293Ile) c.953C>T (p.Thr318Ile) c.725C>T (p.Thr242Ile) | gnomAD v4 |
| 7 | g.107916941C>A | CA457109201 | DLD | c.1023C>A (p.Thr341=) c.*697C>A (n.*697C>A) c.879C>A (p.Thr293=) c.954C>A (p.Thr318=) c.726C>A (p.Thr242=) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.107916941C>G | CA457109202 | DLD | c.1023C>G (p.Thr341=) c.*697C>G (n.*697C>G) c.879C>G (p.Thr293=) c.954C>G (p.Thr318=) c.726C>G (p.Thr242=) | |
| 7 | g.107916941C>T | CA457109203 | DLD | c.1023C>T (p.Thr341=) c.*697C>T (n.*697C>T) c.879C>T (p.Thr293=) c.954C>T (p.Thr318=) c.726C>T (p.Thr242=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107916942A>C | CA457109204 | DLD | c.1024A>C (p.Arg342=) c.*698A>C (n.*698A>C) c.880A>C (p.Arg294=) c.955A>C (p.Arg319=) c.727A>C (p.Arg243=) | |
| 7 | g.107916942A>G | CA368857880 | DLD | c.1024A>G (p.Arg342Gly) c.*698A>G (n.*698A>G) c.880A>G (p.Arg294Gly) c.955A>G (p.Arg319Gly) c.727A>G (p.Arg243Gly) | |
| 7 | g.107916942A>T | CA368857881 | DLD | c.1024A>T (p.Arg342Ter) c.*698A>T (n.*698A>T) c.880A>T (p.Arg294Ter) c.955A>T (p.Arg319Ter) c.727A>T (p.Arg243Ter) | |
| 7 | g.107916943G>A | CA368857883 | DLD | c.1025G>A (p.Arg342Lys) c.*699G>A (n.*699G>A) c.881G>A (p.Arg294Lys) c.956G>A (p.Arg319Lys) c.728G>A (p.Arg243Lys) | |
| 7 | g.107916943G>C | CA368857885 | DLD | c.1025G>C (p.Arg342Thr) c.*699G>C (n.*699G>C) c.881G>C (p.Arg294Thr) c.956G>C (p.Arg319Thr) c.728G>C (p.Arg243Thr) | |
| 7 | g.107916943G>T | CA368857884 | DLD | c.1025G>T (p.Arg342Ile) c.*699G>T (n.*699G>T) c.881G>T (p.Arg294Ile) c.956G>T (p.Arg319Ile) c.728G>T (p.Arg243Ile) | |
| 7 | g.107916944A>C | CA368857886 | DLD | c.1026A>C (p.Arg342Ser) c.*700A>C (n.*700A>C) c.882A>C (p.Arg294Ser) c.957A>C (p.Arg319Ser) c.729A>C (p.Arg243Ser) | |
| 7 | g.107916944A>G | CA457109205 | DLD | c.1026A>G (p.Arg342=) c.*700A>G (n.*700A>G) c.882A>G (p.Arg294=) c.957A>G (p.Arg319=) c.729A>G (p.Arg243=) | |
| 7 | g.107916944A>T | CA368857888 | DLD | c.1026A>T (p.Arg342Ser) c.*700A>T (n.*700A>T) c.882A>T (p.Arg294Ser) c.957A>T (p.Arg319Ser) c.729A>T (p.Arg243Ser) | |
| 7 | g.107916945T>A | CA368857890 | DLD | c.1027T>A (p.Phe343Ile) c.*701T>A (n.*701T>A) c.883T>A (p.Phe295Ile) c.958T>A (p.Phe320Ile) c.730T>A (p.Phe244Ile) | |
| 7 | g.107916945T>C | CA368857891 | DLD | c.1027T>C (p.Phe343Leu) c.*701T>C (n.*701T>C) c.883T>C (p.Phe295Leu) c.958T>C (p.Phe320Leu) c.730T>C (p.Phe244Leu) | |
| 7 | g.107916945T>G | CA368857892 | DLD | c.1027T>G (p.Phe343Val) c.*701T>G (n.*701T>G) c.883T>G (p.Phe295Val) c.958T>G (p.Phe320Val) c.730T>G (p.Phe244Val) | dbSNP gnomAD v4 |
| 7 | g.107916945T= | CA1732859904 | DLD | c.1027T= (p.Phe343=) c.*701T= (n.*701T=) c.883T= (p.Phe295=) c.958T= (p.Phe320=) c.730T= (p.Phe244=) | |
| 7 | g.107916946T>A | CA368857894 | DLD | c.1028T>A (p.Phe343Tyr) c.*702T>A (n.*702T>A) c.884T>A (p.Phe295Tyr) c.959T>A (p.Phe320Tyr) c.731T>A (p.Phe244Tyr) | gnomAD v4 |
| 7 | g.107916946T>C | CA368857898 | DLD | c.1028T>C (p.Phe343Ser) c.*702T>C (n.*702T>C) c.884T>C (p.Phe295Ser) c.959T>C (p.Phe320Ser) c.731T>C (p.Phe244Ser) | |
| 7 | g.107916946T>G | CA368857899 | DLD | c.1028T>G (p.Phe343Cys) c.*702T>G (n.*702T>G) c.884T>G (p.Phe295Cys) c.959T>G (p.Phe320Cys) c.731T>G (p.Phe244Cys) | |
| 7 | g.107916947T>A | CA368857901 | DLD | c.1029T>A (p.Phe343Leu) c.*703T>A (n.*703T>A) c.885T>A (p.Phe295Leu) c.960T>A (p.Phe320Leu) c.732T>A (p.Phe244Leu) | |
| 7 | g.107916947T>C | CA457109206 | DLD | c.1029T>C (p.Phe343=) c.*703T>C (n.*703T>C) c.885T>C (p.Phe295=) c.960T>C (p.Phe320=) c.732T>C (p.Phe244=) | |
| 7 | g.107916947T>G | CA368857902 | DLD | c.1029T>G (p.Phe343Leu) c.*703T>G (n.*703T>G) c.885T>G (p.Phe295Leu) c.960T>G (p.Phe320Leu) c.732T>G (p.Phe244Leu) | |
| 7 | g.107916948C>A | CA368857904 | DLD | c.1030C>A (p.Gln344Lys) c.*704C>A (n.*704C>A) c.886C>A (p.Gln296Lys) c.961C>A (p.Gln321Lys) c.733C>A (p.Gln245Lys) | |
| 7 | g.107916948C>G | CA368857905 | DLD | c.1030C>G (p.Gln344Glu) c.*704C>G (n.*704C>G) c.886C>G (p.Gln296Glu) c.961C>G (p.Gln321Glu) c.733C>G (p.Gln245Glu) | |
| 7 | g.107916948C>T | CA368857906 | DLD | c.1030C>T (p.Gln344Ter) c.*704C>T (n.*704C>T) c.886C>T (p.Gln296Ter) c.961C>T (p.Gln321Ter) c.733C>T (p.Gln245Ter) | |
| 7 | g.107916949A>C | CA368857910 | DLD | c.1031A>C (p.Gln344Pro) c.*705A>C (n.*705A>C) c.887A>C (p.Gln296Pro) c.962A>C (p.Gln321Pro) c.734A>C (p.Gln245Pro) | |
| 7 | g.107916949A>G | CA368857908 | DLD | c.1031A>G (p.Gln344Arg) c.*705A>G (n.*705A>G) c.887A>G (p.Gln296Arg) c.962A>G (p.Gln321Arg) c.734A>G (p.Gln245Arg) | |
| 7 | g.107916949A>T | CA368857907 | DLD | c.1031A>T (p.Gln344Leu) c.*705A>T (n.*705A>T) c.887A>T (p.Gln296Leu) c.962A>T (p.Gln321Leu) c.734A>T (p.Gln245Leu) | |
| 7 | g.107916950A= | CA1732859905 | DLD | c.1032A= (p.Gln344=) c.*706A= (n.*706A=) c.888A= (p.Gln296=) c.963A= (p.Gln321=) c.735A= (p.Gln245=) | |
| 7 | g.107916950A>C | CA368857911 | DLD | c.1032A>C (p.Gln344His) c.*706A>C (n.*706A>C) c.888A>C (p.Gln296His) c.963A>C (p.Gln321His) c.735A>C (p.Gln245His) | |
| 7 | g.107916950A>G | CA4434613 | DLD | c.1032A>G (p.Gln344=) c.*706A>G (n.*706A>G) c.888A>G (p.Gln296=) c.963A>G (p.Gln321=) c.735A>G (p.Gln245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107916950A>T | CA368857913 | DLD | c.1032A>T (p.Gln344His) c.*706A>T (n.*706A>T) c.888A>T (p.Gln296His) c.963A>T (p.Gln321His) c.735A>T (p.Gln245His) | gnomAD v4 |
| 7 | g.107916951A>C | CA368857915 | DLD | c.1033A>C (p.Thr345Pro) c.*707A>C (n.*707A>C) c.889A>C (p.Thr297Pro) c.964A>C (p.Thr322Pro) c.736A>C (p.Thr246Pro) | |
| 7 | g.107916951A>G | CA368857917 | DLD | c.1033A>G (p.Thr345Ala) c.*707A>G (n.*707A>G) c.889A>G (p.Thr297Ala) c.964A>G (p.Thr322Ala) c.736A>G (p.Thr246Ala) | |
| 7 | g.107916951A>T | CA368857918 | DLD | c.1033A>T (p.Thr345Ser) c.*707A>T (n.*707A>T) c.889A>T (p.Thr297Ser) c.964A>T (p.Thr322Ser) c.736A>T (p.Thr246Ser) | |
| 7 | g.107916952C>A | CA368857920 | DLD | c.1034C>A (p.Thr345Asn) c.*708C>A (n.*708C>A) c.890C>A (p.Thr297Asn) c.965C>A (p.Thr322Asn) c.737C>A (p.Thr246Asn) | |
| 7 | g.107916952C>G | CA368857922 | DLD | c.1034C>G (p.Thr345Ser) c.*708C>G (n.*708C>G) c.890C>G (p.Thr297Ser) c.965C>G (p.Thr322Ser) c.737C>G (p.Thr246Ser) | |
| 7 | g.107916952C>T | CA368857923 | DLD | c.1034C>T (p.Thr345Ile) c.*708C>T (n.*708C>T) c.890C>T (p.Thr297Ile) c.965C>T (p.Thr322Ile) c.737C>T (p.Thr246Ile) | |
| 7 | g.107916953T>A | CA457109207 | DLD | c.1035T>A (p.Thr345=) c.*709T>A (n.*709T>A) c.891T>A (p.Thr297=) c.966T>A (p.Thr322=) c.738T>A (p.Thr246=) | |
| 7 | g.107916953T>C | CA457109208 | DLD | c.1035T>C (p.Thr345=) c.*709T>C (n.*709T>C) c.891T>C (p.Thr297=) c.966T>C (p.Thr322=) c.738T>C (p.Thr246=) | ClinVar |
| 7 | g.107916953T>G | CA457109209 | DLD | c.1035T>G (p.Thr345=) c.*709T>G (n.*709T>G) c.891T>G (p.Thr297=) c.966T>G (p.Thr322=) c.738T>G (p.Thr246=) | |
| 7 | g.107916954A= | CA1732859906 | DLD | c.1036A= (p.Lys346=) c.*710A= (n.*710A=) c.892A= (p.Lys298=) c.967A= (p.Lys323=) c.739A= (p.Lys247=) | |
| 7 | g.107916954A>C | CA368857925 | DLD | c.1036A>C (p.Lys346Gln) c.*710A>C (n.*710A>C) c.892A>C (p.Lys298Gln) c.967A>C (p.Lys323Gln) c.739A>C (p.Lys247Gln) | |
| 7 | g.107916954A>G | CA164258293 | DLD | c.1036A>G (p.Lys346Glu) c.*710A>G (n.*710A>G) c.892A>G (p.Lys298Glu) c.967A>G (p.Lys323Glu) c.739A>G (p.Lys247Glu) | dbSNP gnomAD v4 |
| 7 | g.107916954A>T | CA368857927 | DLD | c.1036A>T (p.Lys346Ter) c.*710A>T (n.*710A>T) c.892A>T (p.Lys298Ter) c.967A>T (p.Lys323Ter) c.739A>T (p.Lys247Ter) | ClinVar |
| 7 | g.107916957del | CA2684458338 | DLD | c.1039del (p.Ile347PhefsTer10) c.*713del (n.*713del) c.895del (p.Ile299PhefsTer10) c.970del (p.Ile324PhefsTer10) c.742del (p.Ile248PhefsTer10) | gnomAD v4 |
| 7 | g.107916955A>C | CA368857930 | DLD | c.1037A>C (p.Lys346Thr) c.*711A>C (n.*711A>C) c.893A>C (p.Lys298Thr) c.968A>C (p.Lys323Thr) c.740A>C (p.Lys247Thr) | |
| 7 | g.107916955A>G | CA368857932 | DLD | c.1037A>G (p.Lys346Arg) c.*711A>G (n.*711A>G) c.893A>G (p.Lys298Arg) c.968A>G (p.Lys323Arg) c.740A>G (p.Lys247Arg) | |
| 7 | g.107916955A>T | CA368857929 | DLD | c.1037A>T (p.Lys346Ile) c.*711A>T (n.*711A>T) c.893A>T (p.Lys298Ile) c.968A>T (p.Lys323Ile) c.740A>T (p.Lys247Ile) | |
| 7 | g.107916956A>C | CA368857933 | DLD | c.1038A>C (p.Lys346Asn) c.*712A>C (n.*712A>C) c.894A>C (p.Lys298Asn) c.969A>C (p.Lys323Asn) c.741A>C (p.Lys247Asn) | |
| 7 | g.107916956A>G | CA457109210 | DLD | c.1038A>G (p.Lys346=) c.*712A>G (n.*712A>G) c.894A>G (p.Lys298=) c.969A>G (p.Lys323=) c.741A>G (p.Lys247=) | |
| 7 | g.107916956A>T | CA368857935 | DLD | c.1038A>T (p.Lys346Asn) c.*712A>T (n.*712A>T) c.894A>T (p.Lys298Asn) c.969A>T (p.Lys323Asn) c.741A>T (p.Lys247Asn) | |
| 7 | g.107916957A>C | CA368857936 | DLD | c.1039A>C (p.Ile347Leu) c.*713A>C (n.*713A>C) c.895A>C (p.Ile299Leu) c.970A>C (p.Ile324Leu) c.742A>C (p.Ile248Leu) | |
| 7 | g.107916957A>G | CA368857937 | DLD | c.1039A>G (p.Ile347Val) c.*713A>G (n.*713A>G) c.895A>G (p.Ile299Val) c.970A>G (p.Ile324Val) c.742A>G (p.Ile248Val) | |
| 7 | g.107916957A>T | CA368857939 | DLD | c.1039A>T (p.Ile347Phe) c.*713A>T (n.*713A>T) c.895A>T (p.Ile299Phe) c.970A>T (p.Ile324Phe) c.742A>T (p.Ile248Phe) | |
| 7 | g.107916958T>A | CA368857941 | DLD | c.1040T>A (p.Ile347Asn) c.*714T>A (n.*714T>A) c.896T>A (p.Ile299Asn) c.971T>A (p.Ile324Asn) c.743T>A (p.Ile248Asn) | |
| 7 | g.107916958T>C | CA368857943 | DLD | c.1040T>C (p.Ile347Thr) c.*714T>C (n.*714T>C) c.896T>C (p.Ile299Thr) c.971T>C (p.Ile324Thr) c.743T>C (p.Ile248Thr) | |
| 7 | g.107916958T>G | CA368857944 | DLD | c.1040T>G (p.Ile347Ser) c.*714T>G (n.*714T>G) c.896T>G (p.Ile299Ser) c.971T>G (p.Ile324Ser) c.743T>G (p.Ile248Ser) | gnomAD v4 |
| 7 | g.107916959T>A | CA457109211 | DLD | c.1041T>A (p.Ile347=) c.*715T>A (n.*715T>A) c.897T>A (p.Ile299=) c.972T>A (p.Ile324=) c.744T>A (p.Ile248=) | gnomAD v4 |
| 7 | g.107916959T>C | CA457109212 | DLD | c.1041T>C (p.Ile347=) c.*715T>C (n.*715T>C) c.897T>C (p.Ile299=) c.972T>C (p.Ile324=) c.744T>C (p.Ile248=) | |
| 7 | g.107916959T>G | CA368857946 | DLD | c.1041T>G (p.Ile347Met) c.*715T>G (n.*715T>G) c.897T>G (p.Ile299Met) c.972T>G (p.Ile324Met) c.744T>G (p.Ile248Met) | |
| 7 | g.107916960C>A | CA368857948 | DLD | c.1042C>A (p.Pro348Thr) c.*716C>A (n.*716C>A) c.898C>A (p.Pro300Thr) c.973C>A (p.Pro325Thr) c.745C>A (p.Pro249Thr) | |
| 7 | g.107916960C>G | CA368857950 | DLD | c.1042C>G (p.Pro348Ala) c.*716C>G (n.*716C>G) c.898C>G (p.Pro300Ala) c.973C>G (p.Pro325Ala) c.745C>G (p.Pro249Ala) | |
| 7 | g.107916960C>T | CA368857952 | DLD | c.1042C>T (p.Pro348Ser) c.*716C>T (n.*716C>T) c.898C>T (p.Pro300Ser) c.973C>T (p.Pro325Ser) c.745C>T (p.Pro249Ser) | |
| 7 | g.107916961C>A | CA368857955 | DLD | c.1043C>A (p.Pro348Gln) c.*717C>A (n.*717C>A) c.899C>A (p.Pro300Gln) c.974C>A (p.Pro325Gln) c.746C>A (p.Pro249Gln) | |
| 7 | g.107916961C= | CA1732859907 | DLD | c.1043C= (p.Pro348=) c.*717C= (n.*717C=) c.899C= (p.Pro300=) c.974C= (p.Pro325=) c.746C= (p.Pro249=) | |
| 7 | g.107916961C>G | CA368857956 | DLD | c.1043C>G (p.Pro348Arg) c.*717C>G (n.*717C>G) c.899C>G (p.Pro300Arg) c.974C>G (p.Pro325Arg) c.746C>G (p.Pro249Arg) | gnomAD v4 |
| 7 | g.107916961C>T | CA368857953 | DLD | c.1043C>T (p.Pro348Leu) c.*717C>T (n.*717C>T) c.899C>T (p.Pro300Leu) c.974C>T (p.Pro325Leu) c.746C>T (p.Pro249Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107916962A= | CA1732859908 | DLD | c.1044A= (p.Pro348=) c.*718A= (n.*718A=) c.900A= (p.Pro300=) c.975A= (p.Pro325=) c.747A= (p.Pro249=) | |
| 7 | g.107916962A>C | CA457109213 | DLD | c.1044A>C (p.Pro348=) c.*718A>C (n.*718A>C) c.900A>C (p.Pro300=) c.975A>C (p.Pro325=) c.747A>C (p.Pro249=) | ClinVar dbSNP |
| 7 | g.107916962A>G | CA457109214 | DLD | c.1044A>G (p.Pro348=) c.*718A>G (n.*718A>G) c.900A>G (p.Pro300=) c.975A>G (p.Pro325=) c.747A>G (p.Pro249=) | dbSNP |
| 7 | g.107916962A>T | CA457109215 | DLD | c.1044A>T (p.Pro348=) c.*718A>T (n.*718A>T) c.900A>T (p.Pro300=) c.975A>T (p.Pro325=) c.747A>T (p.Pro249=) | |
| 7 | g.107916964del | CA2578990182 | DLD | c.1046del (p.Asn349IlefsTer8) c.*720del (n.*720del) c.902del (p.Asn301IlefsTer8) c.977del (p.Asn326IlefsTer8) c.749del (p.Asn250IlefsTer8) | |
| 7 | g.107916963A= | CA1732859909 | DLD | c.1045A= (p.Asn349=) c.*719A= (n.*719A=) c.901A= (p.Asn301=) c.976A= (p.Asn326=) c.748A= (p.Asn250=) | |
| 7 | g.107916963A>C | CA368857958 | DLD | c.1045A>C (p.Asn349His) c.*719A>C (n.*719A>C) c.901A>C (p.Asn301His) c.976A>C (p.Asn326His) c.748A>C (p.Asn250His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107916963A>G | CA368857959 | DLD | c.1045A>G (p.Asn349Asp) c.*719A>G (n.*719A>G) c.901A>G (p.Asn301Asp) c.976A>G (p.Asn326Asp) c.748A>G (p.Asn250Asp) | |
| 7 | g.107916963A>T | CA368857961 | DLD | c.1045A>T (p.Asn349Tyr) c.*719A>T (n.*719A>T) c.901A>T (p.Asn301Tyr) c.976A>T (p.Asn326Tyr) c.748A>T (p.Asn250Tyr) | |
| 7 | g.107916964A>C | CA368857962 | DLD | c.1046A>C (p.Asn349Thr) c.*720A>C (n.*720A>C) c.902A>C (p.Asn301Thr) c.977A>C (p.Asn326Thr) c.749A>C (p.Asn250Thr) | |
| 7 | g.107916964A>G | CA368857963 | DLD | c.1046A>G (p.Asn349Ser) c.*720A>G (n.*720A>G) c.902A>G (p.Asn301Ser) c.977A>G (p.Asn326Ser) c.749A>G (p.Asn250Ser) | |
| 7 | g.107916964A>T | CA368857964 | DLD | c.1046A>T (p.Asn349Ile) c.*720A>T (n.*720A>T) c.902A>T (p.Asn301Ile) c.977A>T (p.Asn326Ile) c.749A>T (p.Asn250Ile) | |
| 7 | g.107916965G>A | CA368857966 | DLD | c.1046+1G>A (n.1046+1G>A) c.*720+1G>A (n.*720+1G>A) c.902+1G>A (n.902+1G>A) c.977+1G>A (n.977+1G>A) c.749+1G>A (n.749+1G>A) | |
| 7 | g.107916965G>C | CA368857969 | DLD | c.1046+1G>C (n.1046+1G>C) c.*720+1G>C (n.*720+1G>C) c.902+1G>C (n.902+1G>C) c.977+1G>C (n.977+1G>C) c.749+1G>C (n.749+1G>C) | |
| 7 | g.107916965G>T | CA368857967 | DLD | c.1046+1G>T (n.1046+1G>T) c.*720+1G>T (n.*720+1G>T) c.902+1G>T (n.902+1G>T) c.977+1G>T (n.977+1G>T) c.749+1G>T (n.749+1G>T) | COSMIC COSMIC |
| 7 | g.107916966T>A | CA368857970 | DLD | c.1046+2T>A (n.1046+2T>A) c.*720+2T>A (n.*720+2T>A) c.902+2T>A (n.902+2T>A) c.977+2T>A (n.977+2T>A) c.749+2T>A (n.749+2T>A) | |
| 7 | g.107916966T>C | CA368857972 | DLD | c.1046+2T>C (n.1046+2T>C) c.*720+2T>C (n.*720+2T>C) c.902+2T>C (n.902+2T>C) c.977+2T>C (n.977+2T>C) c.749+2T>C (n.749+2T>C) | |
| 7 | g.107916966T>G | CA368857973 | DLD | c.1046+2T>G (n.1046+2T>G) c.*720+2T>G (n.*720+2T>G) c.902+2T>G (n.902+2T>G) c.977+2T>G (n.977+2T>G) c.749+2T>G (n.749+2T>G) | |
| 7 | g.107916969G>A | CA2578990183 | DLD | c.1046+5G>A (n.1046+5G>A) c.*720+5G>A (n.*720+5G>A) c.902+5G>A (n.902+5G>A) c.977+5G>A (n.977+5G>A) c.749+5G>A (n.749+5G>A) | |
| 7 | g.107916969G>T | CA2695203104 | DLD | c.1046+5G>T (n.1046+5G>T) c.*720+5G>T (n.*720+5G>T) c.902+5G>T (n.902+5G>T) c.977+5G>T (n.977+5G>T) c.749+5G>T (n.749+5G>T) | |
| 7 | g.107916973G>C | CA2684458354 | DLD | c.1046+9G>C (n.1046+9G>C) c.*720+9G>C (n.*720+9G>C) c.902+9G>C (n.902+9G>C) c.977+9G>C (n.977+9G>C) c.749+9G>C (n.749+9G>C) | gnomAD v4 |
| 7 | g.107916974A= | CA1732859910 | DLD | c.1046+10A= (n.1046+10A=) c.*720+10A= (n.*720+10A=) c.902+10A= (n.902+10A=) c.977+10A= (n.977+10A=) c.749+10A= (n.749+10A=) | |
| 7 | g.107916974A>G | CA577199158 | DLD | c.1046+10A>G (n.1046+10A>G) c.*720+10A>G (n.*720+10A>G) c.902+10A>G (n.902+10A>G) c.977+10A>G (n.977+10A>G) c.749+10A>G (n.749+10A>G) | dbSNP gnomAD v2 |
| 7 | g.107916975T>C | CA2684458356 | DLD | c.1046+11T>C (n.1046+11T>C) c.*720+11T>C (n.*720+11T>C) c.902+11T>C (n.902+11T>C) c.977+11T>C (n.977+11T>C) c.749+11T>C (n.749+11T>C) | gnomAD v4 |
| 7 | g.107916978T= | CA1732859911 | DLD | c.1046+14T= (n.1046+14T=) c.*720+14T= (n.*720+14T=) c.902+14T= (n.902+14T=) c.977+14T= (n.977+14T=) c.749+14T= (n.749+14T=) | |
| 7 | g.107916978_107916982delinsTTGTC | CA1732859912 | DLD | c.1046+14_1046+18delinsTTGTC (n.1046+14_1046+18delinsTTGTC) c.*720+14_*720+18delinsTTGTC (n.*720+14_*720+18delinsTTGTC) c.902+14_902+18delinsTTGTC (n.902+14_902+18delinsTTGTC) c.977+14_977+18delinsTTGTC (n.977+14_977+18delinsTTGTC) c.749+14_749+18delinsTTGTC (n.749+14_749+18delinsTTGTC) |