| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50476625dup | CA158225556 | DDC,FIGNL1 | c.1041+1dup c.807+1dup c.683+1dup c.762+1dup c.*142+1dup n.197+1dup c.-10-29326dup (n.-10-29326dup) c.897+1dup c.927+1dup c.690+1dup c.984+1dup | dbSNP |
| 7 | g.50476625del | CA2682809259 | DDC,FIGNL1 | c.1041+1del c.807+1del c.683+1del c.762+1del c.*142+1del n.197+1del c.-10-29326del (n.-10-29326del) c.897+1del c.927+1del c.690+1del c.984+1del | gnomAD v4 |
| 7 | g.50476625C>A | CA367534700 | DDC,FIGNL1 | c.1040G>T (p.Arg347Leu) c.806G>T (p.Arg269Leu) c.682G>T c.761G>T (p.Arg254Leu) c.*141G>T (n.*141G>T) n.196G>T c.-10-29328G>T (n.-10-29328G>T) c.896G>T (p.Arg299Leu) c.926G>T (p.Arg309Leu) c.689G>T (p.Arg230Leu) c.983G>T (p.Arg328Leu) | COSMIC |
| 7 | g.50476625C= | CA1706622916 | DDC,FIGNL1 | c.1040G= (p.Arg347=) c.806G= (p.Arg269=) c.682G= c.761G= (p.Arg254=) c.*141G= (n.*141G=) n.196G= c.-10-29328G= (n.-10-29328G=) c.896G= (p.Arg299=) c.926G= (p.Arg309=) c.689G= (p.Arg230=) c.983G= (p.Arg328=) | |
| 7 | g.50476625C>G | CA367534702 | DDC,FIGNL1 | c.1040G>C (p.Arg347Pro) c.806G>C (p.Arg269Pro) c.682G>C c.761G>C (p.Arg254Pro) c.*141G>C (n.*141G>C) n.196G>C c.-10-29328G>C (n.-10-29328G>C) c.896G>C (p.Arg299Pro) c.926G>C (p.Arg309Pro) c.689G>C (p.Arg230Pro) c.983G>C (p.Arg328Pro) | gnomAD v4 |
| 7 | g.50476625C>T | CA203847 | DDC,FIGNL1 | c.1040G>A (p.Arg347Gln) c.806G>A (p.Arg269Gln) c.682G>A c.761G>A (p.Arg254Gln) c.*141G>A (n.*141G>A) n.196G>A c.-10-29328G>A (n.-10-29328G>A) c.896G>A (p.Arg299Gln) c.926G>A (p.Arg309Gln) c.689G>A (p.Arg230Gln) c.983G>A (p.Arg328Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50476626G>A | CA4262094 | DDC,FIGNL1 | c.1039C>T (p.Arg347Trp) c.805C>T (p.Arg269Trp) c.681C>T c.760C>T (p.Arg254Trp) c.*140C>T (n.*140C>T) n.195C>T c.-10-29329C>T (n.-10-29329C>T) c.895C>T (p.Arg299Trp) c.925C>T (p.Arg309Trp) c.688C>T (p.Arg230Trp) c.982C>T (p.Arg328Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50476626G>C | CA367534709 | DDC,FIGNL1 | c.1039C>G (p.Arg347Gly) c.805C>G (p.Arg269Gly) c.681C>G c.760C>G (p.Arg254Gly) c.*140C>G (n.*140C>G) n.195C>G c.-10-29329C>G (n.-10-29329C>G) c.895C>G (p.Arg299Gly) c.925C>G (p.Arg309Gly) c.688C>G (p.Arg230Gly) c.982C>G (p.Arg328Gly) | gnomAD v4 |
| 7 | g.50476626G= | CA1706622917 | DDC,FIGNL1 | c.1039C= (p.Arg347=) c.805C= (p.Arg269=) c.681C= c.760C= (p.Arg254=) c.*140C= (n.*140C=) n.195C= c.-10-29329C= (n.-10-29329C=) c.895C= (p.Arg299=) c.925C= (p.Arg309=) c.688C= (p.Arg230=) c.982C= (p.Arg328=) | |
| 7 | g.50476626G>T | CA454932374 | DDC,FIGNL1 | c.1039C>A (p.Arg347=) c.805C>A (p.Arg269=) c.681C>A c.760C>A (p.Arg254=) c.*140C>A (n.*140C>A) n.195C>A c.-10-29329C>A (n.-10-29329C>A) c.895C>A (p.Arg299=) c.925C>A (p.Arg309=) c.688C>A (p.Arg230=) c.982C>A (p.Arg328=) | gnomAD v4 |
| 7 | g.50476627G>A | CA454932376 | DDC,FIGNL1 | c.1038C>T (p.Tyr346=) c.804C>T (p.Tyr268=) c.680C>T c.759C>T (p.Tyr253=) c.*139C>T (n.*139C>T) n.194C>T c.-10-29330C>T (n.-10-29330C>T) c.894C>T (p.Tyr298=) c.924C>T (p.Tyr308=) c.687C>T (p.Tyr229=) c.981C>T (p.Tyr327=) | |
| 7 | g.50476627G>C | CA367534712 | DDC,FIGNL1 | c.1038C>G (p.Tyr346Ter) c.804C>G (p.Tyr268Ter) c.680C>G c.759C>G (p.Tyr253Ter) c.*139C>G (n.*139C>G) n.194C>G c.-10-29330C>G (n.-10-29330C>G) c.894C>G (p.Tyr298Ter) c.924C>G (p.Tyr308Ter) c.687C>G (p.Tyr229Ter) c.981C>G (p.Tyr327Ter) | |
| 7 | g.50476627G>T | CA367534714 | DDC,FIGNL1 | c.1038C>A (p.Tyr346Ter) c.804C>A (p.Tyr268Ter) c.680C>A c.759C>A (p.Tyr253Ter) c.*139C>A (n.*139C>A) n.194C>A c.-10-29330C>A (n.-10-29330C>A) c.894C>A (p.Tyr298Ter) c.924C>A (p.Tyr308Ter) c.687C>A (p.Tyr229Ter) c.981C>A (p.Tyr327Ter) | gnomAD v4 |
| 7 | g.50476628T>A | CA367534721 | DDC,FIGNL1 | c.1037A>T (p.Tyr346Phe) c.803A>T (p.Tyr268Phe) c.679A>T c.758A>T (p.Tyr253Phe) c.*138A>T (n.*138A>T) n.193A>T c.-10-29331A>T (n.-10-29331A>T) c.893A>T (p.Tyr298Phe) c.923A>T (p.Tyr308Phe) c.686A>T (p.Tyr229Phe) c.980A>T (p.Tyr327Phe) | |
| 7 | g.50476628T>C | CA367534719 | DDC,FIGNL1 | c.1037A>G (p.Tyr346Cys) c.803A>G (p.Tyr268Cys) c.679A>G c.758A>G (p.Tyr253Cys) c.*138A>G (n.*138A>G) n.193A>G c.-10-29331A>G (n.-10-29331A>G) c.893A>G (p.Tyr298Cys) c.923A>G (p.Tyr308Cys) c.686A>G (p.Tyr229Cys) c.980A>G (p.Tyr327Cys) | ClinVar dbSNP |
| 7 | g.50476628T>G | CA367534717 | DDC,FIGNL1 | c.1037A>C (p.Tyr346Ser) c.803A>C (p.Tyr268Ser) c.679A>C c.758A>C (p.Tyr253Ser) c.*138A>C (n.*138A>C) n.193A>C c.-10-29331A>C (n.-10-29331A>C) c.893A>C (p.Tyr298Ser) c.923A>C (p.Tyr308Ser) c.686A>C (p.Tyr229Ser) c.980A>C (p.Tyr327Ser) | |
| 7 | g.50476628T= | CA1706622918 | DDC,FIGNL1 | c.1037A= (p.Tyr346=) c.803A= (p.Tyr268=) c.679A= c.758A= (p.Tyr253=) c.*138A= (n.*138A=) n.193A= c.-10-29331A= (n.-10-29331A=) c.893A= (p.Tyr298=) c.923A= (p.Tyr308=) c.686A= (p.Tyr229=) c.980A= (p.Tyr327=) | |
| 7 | g.50476629A>C | CA367534724 | DDC,FIGNL1 | c.1036T>G (p.Tyr346Asp) c.802T>G (p.Tyr268Asp) c.678T>G c.757T>G (p.Tyr253Asp) c.*137T>G (n.*137T>G) n.192T>G c.-10-29332T>G (n.-10-29332T>G) c.892T>G (p.Tyr298Asp) c.922T>G (p.Tyr308Asp) c.685T>G (p.Tyr229Asp) c.979T>G (p.Tyr327Asp) | |
| 7 | g.50476629A>G | CA367534725 | DDC,FIGNL1 | c.1036T>C (p.Tyr346His) c.802T>C (p.Tyr268His) c.678T>C c.757T>C (p.Tyr253His) c.*137T>C (n.*137T>C) n.192T>C c.-10-29332T>C (n.-10-29332T>C) c.892T>C (p.Tyr298His) c.922T>C (p.Tyr308His) c.685T>C (p.Tyr229His) c.979T>C (p.Tyr327His) | |
| 7 | g.50476629A>T | CA367534727 | DDC,FIGNL1 | c.1036T>A (p.Tyr346Asn) c.802T>A (p.Tyr268Asn) c.678T>A c.757T>A (p.Tyr253Asn) c.*137T>A (n.*137T>A) n.192T>A c.-10-29332T>A (n.-10-29332T>A) c.892T>A (p.Tyr298Asn) c.922T>A (p.Tyr308Asn) c.685T>A (p.Tyr229Asn) c.979T>A (p.Tyr327Asn) | |
| 7 | g.50476630G>A | CA454932382 | DDC,FIGNL1 | c.1035C>T (p.Asp345=) c.801C>T (p.Asp267=) c.677C>T c.756C>T (p.Asp252=) c.*136C>T (n.*136C>T) n.191C>T c.-10-29333C>T (n.-10-29333C>T) c.891C>T (p.Asp297=) c.921C>T (p.Asp307=) c.684C>T (p.Asp228=) c.978C>T (p.Asp326=) | |
| 7 | g.50476630G>C | CA367534729 | DDC,FIGNL1 | c.1035C>G (p.Asp345Glu) c.801C>G (p.Asp267Glu) c.677C>G c.756C>G (p.Asp252Glu) c.*136C>G (n.*136C>G) n.191C>G c.-10-29333C>G (n.-10-29333C>G) c.891C>G (p.Asp297Glu) c.921C>G (p.Asp307Glu) c.684C>G (p.Asp228Glu) c.978C>G (p.Asp326Glu) | |
| 7 | g.50476630G>T | CA367534731 | DDC,FIGNL1 | c.1035C>A (p.Asp345Glu) c.801C>A (p.Asp267Glu) c.677C>A c.756C>A (p.Asp252Glu) c.*136C>A (n.*136C>A) n.191C>A c.-10-29333C>A (n.-10-29333C>A) c.891C>A (p.Asp297Glu) c.921C>A (p.Asp307Glu) c.684C>A (p.Asp228Glu) c.978C>A (p.Asp326Glu) | gnomAD v4 |
| 7 | g.50476631T>A | CA367534734 | DDC,FIGNL1 | c.1034A>T (p.Asp345Val) c.800A>T (p.Asp267Val) c.676A>T c.755A>T (p.Asp252Val) c.*135A>T (n.*135A>T) n.190A>T c.-10-29334A>T (n.-10-29334A>T) c.890A>T (p.Asp297Val) c.920A>T (p.Asp307Val) c.683A>T (p.Asp228Val) c.977A>T (p.Asp326Val) | |
| 7 | g.50476631T>C | CA367534736 | DDC,FIGNL1 | c.1034A>G (p.Asp345Gly) c.800A>G (p.Asp267Gly) c.676A>G c.755A>G (p.Asp252Gly) c.*135A>G (n.*135A>G) n.190A>G c.-10-29334A>G (n.-10-29334A>G) c.890A>G (p.Asp297Gly) c.920A>G (p.Asp307Gly) c.683A>G (p.Asp228Gly) c.977A>G (p.Asp326Gly) | |
| 7 | g.50476631T>G | CA367534737 | DDC,FIGNL1 | c.1034A>C (p.Asp345Ala) c.800A>C (p.Asp267Ala) c.676A>C c.755A>C (p.Asp252Ala) c.*135A>C (n.*135A>C) n.190A>C c.-10-29334A>C (n.-10-29334A>C) c.890A>C (p.Asp297Ala) c.920A>C (p.Asp307Ala) c.683A>C (p.Asp228Ala) c.977A>C (p.Asp326Ala) | |
| 7 | g.50476632C>A | CA367534738 | DDC,FIGNL1 | c.1033G>T (p.Asp345Tyr) c.799G>T (p.Asp267Tyr) c.675G>T c.754G>T (p.Asp252Tyr) c.*134G>T (n.*134G>T) n.189G>T c.-10-29335G>T (n.-10-29335G>T) c.889G>T (p.Asp297Tyr) c.919G>T (p.Asp307Tyr) c.682G>T (p.Asp228Tyr) c.976G>T (p.Asp326Tyr) | |
| 7 | g.50476632C>G | CA367534739 | DDC,FIGNL1 | c.1033G>C (p.Asp345His) c.799G>C (p.Asp267His) c.675G>C c.754G>C (p.Asp252His) c.*134G>C (n.*134G>C) n.189G>C c.-10-29335G>C (n.-10-29335G>C) c.889G>C (p.Asp297His) c.919G>C (p.Asp307His) c.682G>C (p.Asp228His) c.976G>C (p.Asp326His) | |
| 7 | g.50476632C>T | CA367534740 | DDC,FIGNL1 | c.1033G>A (p.Asp345Asn) c.799G>A (p.Asp267Asn) c.675G>A c.754G>A (p.Asp252Asn) c.*134G>A (n.*134G>A) n.189G>A c.-10-29335G>A (n.-10-29335G>A) c.889G>A (p.Asp297Asn) c.919G>A (p.Asp307Asn) c.682G>A (p.Asp228Asn) c.976G>A (p.Asp326Asn) | |
| 7 | g.50476633A= | CA1706622919 | DDC,FIGNL1 | c.1032T= (p.Thr344=) c.798T= (p.Thr266=) c.674T= c.753T= (p.Thr251=) c.*133T= (n.*133T=) n.188T= c.-10-29336T= (n.-10-29336T=) c.888T= (p.Thr296=) c.918T= (p.Thr306=) c.681T= (p.Thr227=) c.975T= (p.Thr325=) | |
| 7 | g.50476633A>C | CA454932389 | DDC,FIGNL1 | c.1032T>G (p.Thr344=) c.798T>G (p.Thr266=) c.674T>G c.753T>G (p.Thr251=) c.*133T>G (n.*133T>G) n.188T>G c.-10-29336T>G (n.-10-29336T>G) c.888T>G (p.Thr296=) c.918T>G (p.Thr306=) c.681T>G (p.Thr227=) c.975T>G (p.Thr325=) | |
| 7 | g.50476633A>G | CA454932391 | DDC,FIGNL1 | c.1032T>C (p.Thr344=) c.798T>C (p.Thr266=) c.674T>C c.753T>C (p.Thr251=) c.*133T>C (n.*133T>C) n.188T>C c.-10-29336T>C (n.-10-29336T>C) c.888T>C (p.Thr296=) c.918T>C (p.Thr306=) c.681T>C (p.Thr227=) c.975T>C (p.Thr325=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50476633A>T | CA454932393 | DDC,FIGNL1 | c.1032T>A (p.Thr344=) c.798T>A (p.Thr266=) c.674T>A c.753T>A (p.Thr251=) c.*133T>A (n.*133T>A) n.188T>A c.-10-29336T>A (n.-10-29336T>A) c.888T>A (p.Thr296=) c.918T>A (p.Thr306=) c.681T>A (p.Thr227=) c.975T>A (p.Thr325=) | |
| 7 | g.50476634G>A | CA367534746 | DDC,FIGNL1 | c.1031C>T (p.Thr344Ile) c.797C>T (p.Thr266Ile) c.673C>T c.752C>T (p.Thr251Ile) c.*132C>T (n.*132C>T) n.187C>T c.-10-29337C>T (n.-10-29337C>T) c.887C>T (p.Thr296Ile) c.917C>T (p.Thr306Ile) c.680C>T (p.Thr227Ile) c.974C>T (p.Thr325Ile) | |
| 7 | g.50476634G>C | CA367534745 | DDC,FIGNL1 | c.1031C>G (p.Thr344Ser) c.797C>G (p.Thr266Ser) c.673C>G c.752C>G (p.Thr251Ser) c.*132C>G (n.*132C>G) n.187C>G c.-10-29337C>G (n.-10-29337C>G) c.887C>G (p.Thr296Ser) c.917C>G (p.Thr306Ser) c.680C>G (p.Thr227Ser) c.974C>G (p.Thr325Ser) | |
| 7 | g.50476634G>T | CA367534743 | DDC,FIGNL1 | c.1031C>A (p.Thr344Asn) c.797C>A (p.Thr266Asn) c.673C>A c.752C>A (p.Thr251Asn) c.*132C>A (n.*132C>A) n.187C>A c.-10-29337C>A (n.-10-29337C>A) c.887C>A (p.Thr296Asn) c.917C>A (p.Thr306Asn) c.680C>A (p.Thr227Asn) c.974C>A (p.Thr325Asn) | |
| 7 | g.50476635T>A | CA367534747 | DDC,FIGNL1 | c.1030A>T (p.Thr344Ser) c.796A>T (p.Thr266Ser) c.672A>T c.751A>T (p.Thr251Ser) c.*131A>T (n.*131A>T) n.186A>T c.-10-29338A>T (n.-10-29338A>T) c.886A>T (p.Thr296Ser) c.916A>T (p.Thr306Ser) c.679A>T (p.Thr227Ser) c.973A>T (p.Thr325Ser) | |
| 7 | g.50476635T>C | CA367534748 | DDC,FIGNL1 | c.1030A>G (p.Thr344Ala) c.796A>G (p.Thr266Ala) c.672A>G c.751A>G (p.Thr251Ala) c.*131A>G (n.*131A>G) n.186A>G c.-10-29338A>G (n.-10-29338A>G) c.886A>G (p.Thr296Ala) c.916A>G (p.Thr306Ala) c.679A>G (p.Thr227Ala) c.973A>G (p.Thr325Ala) | |
| 7 | g.50476635T>G | CA367534749 | DDC,FIGNL1 | c.1030A>C (p.Thr344Pro) c.796A>C (p.Thr266Pro) c.672A>C c.751A>C (p.Thr251Pro) c.*131A>C (n.*131A>C) n.186A>C c.-10-29338A>C (n.-10-29338A>C) c.886A>C (p.Thr296Pro) c.916A>C (p.Thr306Pro) c.679A>C (p.Thr227Pro) c.973A>C (p.Thr325Pro) | dbSNP |
| 7 | g.50476635T= | CA1706622920 | DDC,FIGNL1 | c.1030A= (p.Thr344=) c.796A= (p.Thr266=) c.672A= c.751A= (p.Thr251=) c.*131A= (n.*131A=) n.186A= c.-10-29338A= (n.-10-29338A=) c.886A= (p.Thr296=) c.916A= (p.Thr306=) c.679A= (p.Thr227=) c.973A= (p.Thr325=) | |
| 7 | g.50476636G>A | CA454932398 | DDC,FIGNL1 | c.1029C>T (p.Ile343=) c.795C>T (p.Ile265=) c.671C>T c.750C>T (p.Ile250=) c.*130C>T (n.*130C>T) n.185C>T c.-10-29339C>T (n.-10-29339C>T) c.885C>T (p.Ile295=) c.915C>T (p.Ile305=) c.678C>T (p.Ile226=) c.972C>T (p.Ile324=) | |
| 7 | g.50476636G>C | CA367534752 | DDC,FIGNL1 | c.1029C>G (p.Ile343Met) c.795C>G (p.Ile265Met) c.671C>G c.750C>G (p.Ile250Met) c.*130C>G (n.*130C>G) n.185C>G c.-10-29339C>G (n.-10-29339C>G) c.885C>G (p.Ile295Met) c.915C>G (p.Ile305Met) c.678C>G (p.Ile226Met) c.972C>G (p.Ile324Met) | |
| 7 | g.50476636G>T | CA454932400 | DDC,FIGNL1 | c.1029C>A (p.Ile343=) c.795C>A (p.Ile265=) c.671C>A c.750C>A (p.Ile250=) c.*130C>A (n.*130C>A) n.185C>A c.-10-29339C>A (n.-10-29339C>A) c.885C>A (p.Ile295=) c.915C>A (p.Ile305=) c.678C>A (p.Ile226=) c.972C>A (p.Ile324=) | |
| 7 | g.50476637A= | CA1706622921 | DDC,FIGNL1 | c.1028T= (p.Ile343=) c.794T= (p.Ile265=) c.670T= c.749T= (p.Ile250=) c.*129T= (n.*129T=) n.184T= c.-10-29340T= (n.-10-29340T=) c.884T= (p.Ile295=) c.914T= (p.Ile305=) c.677T= (p.Ile226=) c.971T= (p.Ile324=) | |
| 7 | g.50476637A>C | CA367534754 | DDC,FIGNL1 | c.1028T>G (p.Ile343Ser) c.794T>G (p.Ile265Ser) c.670T>G c.749T>G (p.Ile250Ser) c.*129T>G (n.*129T>G) n.184T>G c.-10-29340T>G (n.-10-29340T>G) c.884T>G (p.Ile295Ser) c.914T>G (p.Ile305Ser) c.677T>G (p.Ile226Ser) c.971T>G (p.Ile324Ser) | |
| 7 | g.50476637A>G | CA367534755 | DDC,FIGNL1 | c.1028T>C (p.Ile343Thr) c.794T>C (p.Ile265Thr) c.670T>C c.749T>C (p.Ile250Thr) c.*129T>C (n.*129T>C) n.184T>C c.-10-29340T>C (n.-10-29340T>C) c.884T>C (p.Ile295Thr) c.914T>C (p.Ile305Thr) c.677T>C (p.Ile226Thr) c.971T>C (p.Ile324Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50476637A>T | CA367534756 | DDC,FIGNL1 | c.1028T>A (p.Ile343Asn) c.794T>A (p.Ile265Asn) c.670T>A c.749T>A (p.Ile250Asn) c.*129T>A (n.*129T>A) n.184T>A c.-10-29340T>A (n.-10-29340T>A) c.884T>A (p.Ile295Asn) c.914T>A (p.Ile305Asn) c.677T>A (p.Ile226Asn) c.971T>A (p.Ile324Asn) | |
| 7 | g.50476638T>A | CA367534758 | DDC,FIGNL1 | c.1027A>T (p.Ile343Phe) c.793A>T (p.Ile265Phe) c.669A>T c.748A>T (p.Ile250Phe) c.*128A>T (n.*128A>T) n.183A>T c.-10-29341A>T (n.-10-29341A>T) c.883A>T (p.Ile295Phe) c.913A>T (p.Ile305Phe) c.676A>T (p.Ile226Phe) c.970A>T (p.Ile324Phe) | |
| 7 | g.50476638T>C | CA367534760 | DDC,FIGNL1 | c.1027A>G (p.Ile343Val) c.793A>G (p.Ile265Val) c.669A>G c.748A>G (p.Ile250Val) c.*128A>G (n.*128A>G) n.183A>G c.-10-29341A>G (n.-10-29341A>G) c.883A>G (p.Ile295Val) c.913A>G (p.Ile305Val) c.676A>G (p.Ile226Val) c.970A>G (p.Ile324Val) | |
| 7 | g.50476638T>G | CA367534761 | DDC,FIGNL1 | c.1027A>C (p.Ile343Leu) c.793A>C (p.Ile265Leu) c.669A>C c.748A>C (p.Ile250Leu) c.*128A>C (n.*128A>C) n.183A>C c.-10-29341A>C (n.-10-29341A>C) c.883A>C (p.Ile295Leu) c.913A>C (p.Ile305Leu) c.676A>C (p.Ile226Leu) c.970A>C (p.Ile324Leu) |