| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 | |
| 11 | g.46725904C= | CA1969071968 | F2 | c.605C= (p.Ser202=) c.575C= (p.Ser192=) n.385C= c.557C= (p.Ser186=) n.649C= n.640C= | |
| 11 | g.46725904C>G | CA380264751 | F2 | c.605C>G (p.Ser202Cys) c.575C>G (p.Ser192Cys) n.385C>G c.557C>G (p.Ser186Cys) n.649C>G n.640C>G | |
| 11 | g.46725904C>T | CA380264749 | F2 | c.605C>T (p.Ser202Phe) c.575C>T (p.Ser192Phe) n.385C>T c.557C>T (p.Ser186Phe) n.649C>T n.640C>T | dbSNP COSMIC |
| 11 | g.46725905C>A | CA474043452 | F2 | c.606C>A (p.Ser202=) c.576C>A (p.Ser192=) n.386C>A c.558C>A (p.Ser186=) n.650C>A n.641C>A | |
| 11 | g.46725905C= | CA1969071970 | F2 | c.606C= (p.Ser202=) c.576C= (p.Ser192=) n.386C= c.558C= (p.Ser186=) n.650C= n.641C= | |
| 11 | g.46725905C>G | CA474043449 | F2 | c.606C>G (p.Ser202=) c.576C>G (p.Ser192=) n.386C>G c.558C>G (p.Ser186=) n.650C>G n.641C>G | |
| 11 | g.46725905C>T | CA5967022 | F2 | c.606C>T (p.Ser202=) c.576C>T (p.Ser192=) n.386C>T c.558C>T (p.Ser186=) n.650C>T n.641C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725906A= | CA1969071973 | F2 | c.607A= (p.Ser203=) c.577A= (p.Ser193=) n.387A= c.559A= (p.Ser187=) n.651A= n.642A= | |
| 11 | g.46725906A>C | CA380264755 | F2 | c.607A>C (p.Ser203Arg) c.577A>C (p.Ser193Arg) n.387A>C c.559A>C (p.Ser187Arg) n.651A>C n.642A>C | gnomAD v4 |
| 11 | g.46725906A>G | CA380264757 | F2 | c.607A>G (p.Ser203Gly) c.577A>G (p.Ser193Gly) n.387A>G c.559A>G (p.Ser187Gly) n.651A>G n.642A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.46725906A>T | CA380264758 | F2 | c.607A>T (p.Ser203Cys) c.577A>T (p.Ser193Cys) n.387A>T c.559A>T (p.Ser187Cys) n.651A>T n.642A>T | |
| 11 | g.46725907G>A | CA380264761 | F2 | c.608G>A (p.Ser203Asn) c.578G>A (p.Ser193Asn) n.388G>A c.560G>A (p.Ser187Asn) n.652G>A n.643G>A | dbSNP gnomAD v4 |
| 11 | g.46725907G>C | CA380264762 | F2 | c.608G>C (p.Ser203Thr) c.578G>C (p.Ser193Thr) n.388G>C c.560G>C (p.Ser187Thr) n.652G>C n.643G>C | |
| 11 | g.46725907G= | CA1969071976 | F2 | c.608G= (p.Ser203=) c.578G= (p.Ser193=) n.388G= c.560G= (p.Ser187=) n.652G= n.643G= | |
| 11 | g.46725907G>T | CA380264763 | F2 | c.608G>T (p.Ser203Ile) c.578G>T (p.Ser193Ile) n.388G>T c.560G>T (p.Ser187Ile) n.652G>T n.643G>T | |
| 11 | g.46725908T>A | CA380264765 | F2 | c.609T>A (p.Ser203Arg) c.579T>A (p.Ser193Arg) n.389T>A c.561T>A (p.Ser187Arg) n.653T>A n.644T>A | |
| 11 | g.46725908T>C | CA474043465 | F2 | c.609T>C (p.Ser203=) c.579T>C (p.Ser193=) n.389T>C c.561T>C (p.Ser187=) n.653T>C n.644T>C | |
| 11 | g.46725908T>G | CA380264767 | F2 | c.609T>G (p.Ser203Arg) c.579T>G (p.Ser193Arg) n.389T>G c.561T>G (p.Ser187Arg) n.653T>G n.644T>G | |
| 11 | g.46725909G>A | CA380264768 | F2 | c.610G>A (p.Val204Met) c.580G>A (p.Val194Met) n.390G>A c.562G>A (p.Val188Met) n.654G>A n.645G>A | gnomAD v4 |
| 11 | g.46725909G>C | CA380264770 | F2 | c.610G>C (p.Val204Leu) c.580G>C (p.Val194Leu) n.390G>C c.562G>C (p.Val188Leu) n.654G>C n.645G>C | |
| 11 | g.46725909G>T | CA380264771 | F2 | c.610G>T (p.Val204Leu) c.580G>T (p.Val194Leu) n.390G>T c.562G>T (p.Val188Leu) n.654G>T n.645G>T | |
| 11 | g.46725910T>A | CA380264776 | F2 | c.611T>A (p.Val204Glu) c.581T>A (p.Val194Glu) n.391T>A c.563T>A (p.Val188Glu) n.655T>A n.646T>A |