| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46725891C>A | CA380264715 | F2 | c.592C>A (p.Arg198Ser) c.562C>A (p.Arg188Ser) n.372C>A c.544C>A (p.Arg182Ser) n.636C>A n.627C>A | dbSNP gnomAD v4 |
| 11 | g.46725891C= | CA1969071935 | F2 | c.592C= (p.Arg198=) c.562C= (p.Arg188=) n.372C= c.544C= (p.Arg182=) n.636C= n.627C= | |
| 11 | g.46725891C>G | CA380264714 | F2 | c.592C>G (p.Arg198Gly) c.562C>G (p.Arg188Gly) n.372C>G c.544C>G (p.Arg182Gly) n.636C>G n.627C>G | |
| 11 | g.46725891C>T | CA5967018 | F2 | c.592C>T (p.Arg198Cys) c.562C>T (p.Arg188Cys) n.372C>T c.544C>T (p.Arg182Cys) n.636C>T n.627C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.46725891_46725900delinsCGCTCCGAAG | CA1969071937 | F2 | c.592_601delinsCGCTCCGAAG (p.Arg198=) c.562_571delinsCGCTCCGAAG (p.Arg188=) n.372_381delinsCGCTCCGAAG c.544_553delinsCGCTCCGAAG (p.Arg182=) n.636_645delinsCGCTCCGAAG n.627_636delinsCGCTCCGAAG | |
| 11 | g.46725892G>A | CA5967020 | F2 | c.593G>A (p.Arg198His) c.563G>A (p.Arg188His) n.373G>A c.545G>A (p.Arg182His) n.637G>A n.628G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725892G>C | CA380264716 | F2 | c.593G>C (p.Arg198Pro) c.563G>C (p.Arg188Pro) n.373G>C c.545G>C (p.Arg182Pro) n.637G>C n.628G>C | |
| 11 | g.46725892G= | CA1969071940 | F2 | c.593G= (p.Arg198=) c.563G= (p.Arg188=) n.373G= c.545G= (p.Arg182=) n.637G= n.628G= | |
| 11 | g.46725892G>T | CA380264717 | F2 | c.593G>T (p.Arg198Leu) c.563G>T (p.Arg188Leu) n.373G>T c.545G>T (p.Arg182Leu) n.637G>T n.628G>T | COSMIC |
| 11 | g.46725897_46725905del | CA5967019 | F2 | c.598_606del (p.Glu200_Ser202del) c.568_576del (p.Glu190_Ser192del) n.378_386del c.550_558del (p.Glu184_Ser186del) n.642_650del n.633_641del | dbSNP ExAC gnomAD v2 |
| 11 | g.46725893C>A | CA474043388 | F2 | c.594C>A (p.Arg198=) c.564C>A (p.Arg188=) n.374C>A c.546C>A (p.Arg182=) n.638C>A n.629C>A | |
| 11 | g.46725893C= | CA1969071943 | F2 | c.594C= (p.Arg198=) c.564C= (p.Arg188=) n.374C= c.546C= (p.Arg182=) n.638C= n.629C= | |
| 11 | g.46725893C>G | CA474043391 | F2 | c.594C>G (p.Arg198=) c.564C>G (p.Arg188=) n.374C>G c.546C>G (p.Arg182=) n.638C>G n.629C>G | |
| 11 | g.46725893C>T | CA221651924 | F2 | c.594C>T (p.Arg198=) c.564C>T (p.Arg188=) n.374C>T c.546C>T (p.Arg182=) n.638C>T n.629C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.46725894T>A | CA380264718 | F2 | c.595T>A (p.Ser199Thr) c.565T>A (p.Ser189Thr) n.375T>A c.547T>A (p.Ser183Thr) n.639T>A n.630T>A | |
| 11 | g.46725894T>C | CA380264719 | F2 | c.595T>C (p.Ser199Pro) c.565T>C (p.Ser189Pro) n.375T>C c.547T>C (p.Ser183Pro) n.639T>C n.630T>C | gnomAD v4 |
| 11 | g.46725894T>G | CA380264720 | F2 | c.595T>G (p.Ser199Ala) c.565T>G (p.Ser189Ala) n.375T>G c.547T>G (p.Ser183Ala) n.639T>G n.630T>G | |
| 11 | g.46725895C>A | CA380264721 | F2 | c.596C>A (p.Ser199Tyr) c.566C>A (p.Ser189Tyr) n.376C>A c.548C>A (p.Ser183Tyr) n.640C>A n.631C>A | |
| 11 | g.46725895C>G | CA380264722 | F2 | c.596C>G (p.Ser199Cys) c.566C>G (p.Ser189Cys) n.376C>G c.548C>G (p.Ser183Cys) n.640C>G n.631C>G | |
| 11 | g.46725895C>T | CA380264723 | F2 | c.596C>T (p.Ser199Phe) c.566C>T (p.Ser189Phe) n.376C>T c.548C>T (p.Ser183Phe) n.640C>T n.631C>T | gnomAD v4 |
| 11 | g.46725896C>A | CA474043407 | F2 | c.597C>A (p.Ser199=) c.567C>A (p.Ser189=) n.377C>A c.549C>A (p.Ser183=) n.641C>A n.632C>A | |
| 11 | g.46725896C= | CA1969071946 | F2 | c.597C= (p.Ser199=) c.567C= (p.Ser189=) n.377C= c.549C= (p.Ser183=) n.641C= n.632C= | |
| 11 | g.46725896C>G | CA474043409 | F2 | c.597C>G (p.Ser199=) c.567C>G (p.Ser189=) n.377C>G c.549C>G (p.Ser183=) n.641C>G n.632C>G | |
| 11 | g.46725896C>T | CA5967021 | F2 | c.597C>T (p.Ser199=) c.567C>T (p.Ser189=) n.377C>T c.549C>T (p.Ser183=) n.641C>T n.632C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725897G>A | CA090909 | F2 | c.598G>A (p.Glu200Lys) c.568G>A (p.Glu190Lys) n.378G>A c.550G>A (p.Glu184Lys) n.642G>A n.633G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725897G>C | CA380264725 | F2 | c.598G>C (p.Glu200Gln) c.568G>C (p.Glu190Gln) n.378G>C c.550G>C (p.Glu184Gln) n.642G>C n.633G>C | |
| 11 | g.46725897G= | CA1969071952 | F2 | c.598G= (p.Glu200=) c.568G= (p.Glu190=) n.378G= c.550G= (p.Glu184=) n.642G= n.633G= | |
| 11 | g.46725897G>T | CA380264724 | F2 | c.598G>T (p.Glu200Ter) c.568G>T (p.Glu190Ter) n.378G>T c.550G>T (p.Glu184Ter) n.642G>T n.633G>T | |
| 11 | g.46725898A>C | CA380264727 | F2 | c.599A>C (p.Glu200Ala) c.569A>C (p.Glu190Ala) n.379A>C c.551A>C (p.Glu184Ala) n.643A>C n.634A>C | |
| 11 | g.46725898A>G | CA380264731 | F2 | c.599A>G (p.Glu200Gly) c.569A>G (p.Glu190Gly) n.379A>G c.551A>G (p.Glu184Gly) n.643A>G n.634A>G | |
| 11 | g.46725898A>T | CA380264729 | F2 | c.599A>T (p.Glu200Val) c.569A>T (p.Glu190Val) n.379A>T c.551A>T (p.Glu184Val) n.643A>T n.634A>T | |
| 11 | g.46725899A= | CA1969071957 | F2 | c.600A= (p.Glu200=) c.570A= (p.Glu190=) n.380A= c.552A= (p.Glu184=) n.644A= n.635A= | |
| 11 | g.46725899A>C | CA380264732 | F2 | c.600A>C (p.Glu200Asp) c.570A>C (p.Glu190Asp) n.380A>C c.552A>C (p.Glu184Asp) n.644A>C n.635A>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46725899A>G | CA474043415 | F2 | c.600A>G (p.Glu200=) c.570A>G (p.Glu190=) n.380A>G c.552A>G (p.Glu184=) n.644A>G n.635A>G | |
| 11 | g.46725899A>T | CA380264733 | F2 | c.600A>T (p.Glu200Asp) c.570A>T (p.Glu190Asp) n.380A>T c.552A>T (p.Glu184Asp) n.644A>T n.635A>T | |
| 11 | g.46725900G>A | CA380264736 | F2 | c.601G>A (p.Gly201Ser) c.571G>A (p.Gly191Ser) n.381G>A c.553G>A (p.Gly185Ser) n.645G>A n.636G>A | |
| 11 | g.46725900G>C | CA380264737 | F2 | c.601G>C (p.Gly201Arg) c.571G>C (p.Gly191Arg) n.381G>C c.553G>C (p.Gly185Arg) n.645G>C n.636G>C | |
| 11 | g.46725900G>T | CA380264739 | F2 | c.601G>T (p.Gly201Cys) c.571G>T (p.Gly191Cys) n.381G>T c.553G>T (p.Gly185Cys) n.645G>T n.636G>T | COSMIC |
| 11 | g.46725901G>A | CA380264740 | F2 | c.602G>A (p.Gly201Asp) c.572G>A (p.Gly191Asp) n.382G>A c.554G>A (p.Gly185Asp) n.646G>A n.637G>A | gnomAD v4 COSMIC |
| 11 | g.46725901G>C | CA380264741 | F2 | c.602G>C (p.Gly201Ala) c.572G>C (p.Gly191Ala) n.382G>C c.554G>C (p.Gly185Ala) n.646G>C n.637G>C | dbSNP |
| 11 | g.46725901G= | CA1969071959 | F2 | c.602G= (p.Gly201=) c.572G= (p.Gly191=) n.382G= c.554G= (p.Gly185=) n.646G= n.637G= | |
| 11 | g.46725901G>T | CA380264744 | F2 | c.602G>T (p.Gly201Val) c.572G>T (p.Gly191Val) n.382G>T c.554G>T (p.Gly185Val) n.646G>T n.637G>T | gnomAD v4 |
| 11 | g.46725902C>A | CA474043432 | F2 | c.603C>A (p.Gly201=) c.573C>A (p.Gly191=) n.383C>A c.555C>A (p.Gly185=) n.647C>A n.638C>A | |
| 11 | g.46725902C= | CA1969071962 | F2 | c.603C= (p.Gly201=) c.573C= (p.Gly191=) n.383C= c.555C= (p.Gly185=) n.647C= n.638C= | |
| 11 | g.46725902C>G | CA474043436 | F2 | c.603C>G (p.Gly201=) c.573C>G (p.Gly191=) n.383C>G c.555C>G (p.Gly185=) n.647C>G n.638C>G | |
| 11 | g.46725902C>T | CA474043435 | F2 | c.603C>T (p.Gly201=) c.573C>T (p.Gly191=) n.383C>T c.555C>T (p.Gly185=) n.647C>T n.638C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46725903T>A | CA380264745 | F2 | c.604T>A (p.Ser202Thr) c.574T>A (p.Ser192Thr) n.384T>A c.556T>A (p.Ser186Thr) n.648T>A n.639T>A | |
| 11 | g.46725903T>C | CA380264746 | F2 | c.604T>C (p.Ser202Pro) c.574T>C (p.Ser192Pro) n.384T>C c.556T>C (p.Ser186Pro) n.648T>C n.639T>C | |
| 11 | g.46725903T>G | CA380264747 | F2 | c.604T>G (p.Ser202Ala) c.574T>G (p.Ser192Ala) n.384T>G c.556T>G (p.Ser186Ala) n.648T>G n.639T>G | |
| 11 | g.46725904C>A | CA380264752 | F2 | c.605C>A (p.Ser202Tyr) c.575C>A (p.Ser192Tyr) n.385C>A c.557C>A (p.Ser186Tyr) n.649C>A n.640C>A |