UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121496917T>A | CA383286766 | SORL1 | c.807T>A (p.His269Gln) n.759T>A c.495T>A (p.His165Gln) c.282T>A (p.His94Gln) | dbSNP gnomAD v4 |
| 11 | g.121496917T>C | CA6328479 | SORL1 | c.807T>C (p.His269=) n.759T>C c.495T>C (p.His165=) c.282T>C (p.His94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496917T>G | CA383286767 | SORL1 | c.807T>G (p.His269Gln) n.759T>G c.495T>G (p.His165Gln) c.282T>G (p.His94Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496917T= | CA2004892514 | SORL1 | c.807T= (p.His269=) n.759T= c.495T= (p.His165=) c.282T= (p.His94=) | |
| 11 | g.121496917_121496918delinsCA | CA2004892517 | SORL1 | c.807_808delinsCA (p.Glu270Lys) n.759_760delinsCA c.495_496delinsCA (p.Glu166Lys) c.282_283delinsCA (p.Glu95Lys) | ClinVar dbSNP |
| 11 | g.121496917_121496918delinsTG | CA2004892516 | SORL1 | c.807_808delinsTG (p.His269=) n.759_760delinsTG c.495_496delinsTG (p.His165=) c.282_283delinsTG (p.His94=) | |
| 11 | g.121496917_121496918dup | CA229977236 | SORL1 | c.807_808dup (p.Glu270ValfsTer24) n.759_760dup c.495_496dup (p.Glu166ValfsTer24) c.282_283dup (p.Glu95ValfsTer24) | dbSNP |
| 11 | g.121496918G>A | CA6328480 | SORL1 | c.808G>A (p.Glu270Lys) n.760G>A c.496G>A (p.Glu166Lys) c.283G>A (p.Glu95Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496918G>C | CA383286768 | SORL1 | c.808G>C (p.Glu270Gln) n.760G>C c.496G>C (p.Glu166Gln) c.283G>C (p.Glu95Gln) | |
| 11 | g.121496918G= | CA2004892521 | SORL1 | c.808G= (p.Glu270=) n.760G= c.496G= (p.Glu166=) c.283G= (p.Glu95=) | |
| 11 | g.121496918G>T | CA229977246 | SORL1 | c.808G>T (p.Glu270Ter) n.760G>T c.496G>T (p.Glu166Ter) c.283G>T (p.Glu95Ter) | dbSNP |
| 11 | g.121496919A>C | CA383286769 | SORL1 | c.809A>C (p.Glu270Ala) n.761A>C c.497A>C (p.Glu166Ala) c.284A>C (p.Glu95Ala) | |
| 11 | g.121496919A>G | CA383286770 | SORL1 | c.809A>G (p.Glu270Gly) n.761A>G c.497A>G (p.Glu166Gly) c.284A>G (p.Glu95Gly) | |
| 11 | g.121496919A>T | CA383286771 | SORL1 | c.809A>T (p.Glu270Val) n.761A>T c.497A>T (p.Glu166Val) c.284A>T (p.Glu95Val) | gnomAD v4 |
| 11 | g.121496920A>C | CA383286772 | SORL1 | c.810A>C (p.Glu270Asp) n.762A>C c.498A>C (p.Glu166Asp) c.285A>C (p.Glu95Asp) | |
| 11 | g.121496920A>G | CA477310031 | SORL1 | c.810A>G (p.Glu270=) n.762A>G c.498A>G (p.Glu166=) c.285A>G (p.Glu95=) | |
| 11 | g.121496920A>T | CA383286773 | SORL1 | c.810A>T (p.Glu270Asp) n.762A>T c.498A>T (p.Glu166Asp) c.285A>T (p.Glu95Asp) | |
| 11 | g.121496921C>A | CA383286776 | SORL1 | c.811C>A (p.Pro271Thr) n.763C>A c.499C>A (p.Pro167Thr) c.286C>A (p.Pro96Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496921C= | CA2004892525 | SORL1 | c.811C= (p.Pro271=) n.763C= c.499C= (p.Pro167=) c.286C= (p.Pro96=) | |
| 11 | g.121496921C>G | CA383286775 | SORL1 | c.811C>G (p.Pro271Ala) n.763C>G c.499C>G (p.Pro167Ala) c.286C>G (p.Pro96Ala) | |
| 11 | g.121496921C>T | CA383286774 | SORL1 | c.811C>T (p.Pro271Ser) n.763C>T c.499C>T (p.Pro167Ser) c.286C>T (p.Pro96Ser) | |
| 11 | g.121496922C>A | CA383286777 | SORL1 | c.812C>A (p.Pro271His) n.764C>A c.500C>A (p.Pro167His) c.287C>A (p.Pro96His) | |
| 11 | g.121496922C= | CA2004892528 | SORL1 | c.812C= (p.Pro271=) n.764C= c.500C= (p.Pro167=) c.287C= (p.Pro96=) | |
| 11 | g.121496922C>G | CA383286778 | SORL1 | c.812C>G (p.Pro271Arg) n.764C>G c.500C>G (p.Pro167Arg) c.287C>G (p.Pro96Arg) | |
| 11 | g.121496922C>T | CA229977248 | SORL1 | c.812C>T (p.Pro271Leu) n.764C>T c.500C>T (p.Pro167Leu) c.287C>T (p.Pro96Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121496923C>A | CA477310032 | SORL1 | c.813C>A (p.Pro271=) n.765C>A c.501C>A (p.Pro167=) c.288C>A (p.Pro96=) | |
| 11 | g.121496923C= | CA2004892531 | SORL1 | c.813C= (p.Pro271=) n.765C= c.501C= (p.Pro167=) c.288C= (p.Pro96=) | |
| 11 | g.121496923C>G | CA477310034 | SORL1 | c.813C>G (p.Pro271=) n.765C>G c.501C>G (p.Pro167=) c.288C>G (p.Pro96=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496923C>T | CA477310033 | SORL1 | c.813C>T (p.Pro271=) n.765C>T c.501C>T (p.Pro167=) c.288C>T (p.Pro96=) | |
| 11 | g.121496924T>A | CA383286779 | SORL1 | c.814T>A (p.Ser272Thr) n.766T>A c.502T>A (p.Ser168Thr) c.289T>A (p.Ser97Thr) | |
| 11 | g.121496924T>C | CA6328481 | SORL1 | c.814T>C (p.Ser272Pro) n.766T>C c.502T>C (p.Ser168Pro) c.289T>C (p.Ser97Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496924T>G | CA383286780 | SORL1 | c.814T>G (p.Ser272Ala) n.766T>G c.502T>G (p.Ser168Ala) c.289T>G (p.Ser97Ala) | |
| 11 | g.121496924T= | CA2004892533 | SORL1 | c.814T= (p.Ser272=) n.766T= c.502T= (p.Ser168=) c.289T= (p.Ser97=) | |
| 11 | g.121496925C>A | CA383286781 | SORL1 | c.815C>A (p.Ser272Tyr) n.767C>A c.503C>A (p.Ser168Tyr) c.290C>A (p.Ser97Tyr) | |
| 11 | g.121496925C= | CA2004892534 | SORL1 | c.815C= (p.Ser272=) n.767C= c.503C= (p.Ser168=) c.290C= (p.Ser97=) | |
| 11 | g.121496925C>G | CA383286782 | SORL1 | c.815C>G (p.Ser272Cys) n.767C>G c.503C>G (p.Ser168Cys) c.290C>G (p.Ser97Cys) | |
| 11 | g.121496925C>T | CA6328482 | SORL1 | c.815C>T (p.Ser272Phe) n.767C>T c.503C>T (p.Ser168Phe) c.290C>T (p.Ser97Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121496926T>A | CA477310035 | SORL1 | c.816T>A (p.Ser272=) n.768T>A c.504T>A (p.Ser168=) c.291T>A (p.Ser97=) | |
| 11 | g.121496926T>C | CA477310036 | SORL1 | c.816T>C (p.Ser272=) n.768T>C c.504T>C (p.Ser168=) c.291T>C (p.Ser97=) | |
| 11 | g.121496926T>G | CA477310037 | SORL1 | c.816T>G (p.Ser272=) n.768T>G c.504T>G (p.Ser168=) c.291T>G (p.Ser97=) | |
| 11 | g.121496927G>A | CA383286783 | SORL1 | c.817G>A (p.Gly273Ser) n.769G>A c.505G>A (p.Gly169Ser) c.292G>A (p.Gly98Ser) | |
| 11 | g.121496927G>C | CA383286784 | SORL1 | c.817G>C (p.Gly273Arg) n.769G>C c.505G>C (p.Gly169Arg) c.292G>C (p.Gly98Arg) | |
| 11 | g.121496927G>T | CA383286785 | SORL1 | c.817G>T (p.Gly273Cys) n.769G>T c.505G>T (p.Gly169Cys) c.292G>T (p.Gly98Cys) | |
| 11 | g.121496928G>A | CA383286786 | SORL1 | c.818G>A (p.Gly273Asp) n.770G>A c.506G>A (p.Gly169Asp) c.293G>A (p.Gly98Asp) | gnomAD v4 |
| 11 | g.121496928G>C | CA383286787 | SORL1 | c.818G>C (p.Gly273Ala) n.770G>C c.506G>C (p.Gly169Ala) c.293G>C (p.Gly98Ala) | |
| 11 | g.121496928G>T | CA383286788 | SORL1 | c.818G>T (p.Gly273Val) n.770G>T c.506G>T (p.Gly169Val) c.293G>T (p.Gly98Val) | |
| 11 | g.121496929C>A | CA477310038 | SORL1 | c.819C>A (p.Gly273=) n.771C>A c.507C>A (p.Gly169=) c.294C>A (p.Gly98=) | |
| 11 | g.121496929C>G | CA477310040 | SORL1 | c.819C>G (p.Gly273=) n.771C>G c.507C>G (p.Gly169=) c.294C>G (p.Gly98=) | |
| 11 | g.121496929C>T | CA477310039 | SORL1 | c.819C>T (p.Gly273=) n.771C>T c.507C>T (p.Gly169=) c.294C>T (p.Gly98=) | |
| 11 | g.121496930T>A | CA383286789 | SORL1 | c.820T>A (p.Tyr274Asn) n.772T>A c.508T>A (p.Tyr170Asn) c.295T>A (p.Tyr99Asn) | |
| 11 | g.121496930T>C | CA383286790 | SORL1 | c.820T>C (p.Tyr274His) n.772T>C c.508T>C (p.Tyr170His) c.295T>C (p.Tyr99His) | dbSNP gnomAD v4 |
| 11 | g.121496930T>G | CA383286791 | SORL1 | c.820T>G (p.Tyr274Asp) n.772T>G c.508T>G (p.Tyr170Asp) c.295T>G (p.Tyr99Asp) | |
| 11 | g.121496930T= | CA2004892535 | SORL1 | c.820T= (p.Tyr274=) n.772T= c.508T= (p.Tyr170=) c.295T= (p.Tyr99=) | |
| 11 | g.121496931A>C | CA383286792 | SORL1 | c.821A>C (p.Tyr274Ser) n.773A>C c.509A>C (p.Tyr170Ser) c.296A>C (p.Tyr99Ser) | gnomAD v3 gnomAD v4 |
| 11 | g.121496931A>G | CA383286793 | SORL1 | c.821A>G (p.Tyr274Cys) n.773A>G c.509A>G (p.Tyr170Cys) c.296A>G (p.Tyr99Cys) | |
| 11 | g.121496931A>T | CA383286794 | SORL1 | c.821A>T (p.Tyr274Phe) n.773A>T c.509A>T (p.Tyr170Phe) c.296A>T (p.Tyr99Phe) | |
| 11 | g.121496932C>A | CA383286795 | SORL1 | c.822C>A (p.Tyr274Ter) n.774C>A c.510C>A (p.Tyr170Ter) c.297C>A (p.Tyr99Ter) | |
| 11 | g.121496932C>G | CA383286796 | SORL1 | c.822C>G (p.Tyr274Ter) n.774C>G c.510C>G (p.Tyr170Ter) c.297C>G (p.Tyr99Ter) | |
| 11 | g.121496932C>T | CA477310041 | SORL1 | c.822C>T (p.Tyr274=) n.774C>T c.510C>T (p.Tyr170=) c.297C>T (p.Tyr99=) | |
| 11 | g.121496933T>A | CA383286797 | SORL1 | c.823T>A (p.Ser275Thr) n.775T>A c.511T>A (p.Ser171Thr) c.298T>A (p.Ser100Thr) | |
| 11 | g.121496933T>C | CA383286799 | SORL1 | c.823T>C (p.Ser275Pro) n.775T>C c.511T>C (p.Ser171Pro) c.298T>C (p.Ser100Pro) | |
| 11 | g.121496933T>G | CA383286798 | SORL1 | c.823T>G (p.Ser275Ala) n.775T>G c.511T>G (p.Ser171Ala) c.298T>G (p.Ser100Ala) | |
| 11 | g.121496934C>A | CA383286800 | SORL1 | c.824C>A (p.Ser275Tyr) n.776C>A c.512C>A (p.Ser171Tyr) c.299C>A (p.Ser100Tyr) | |
| 11 | g.121496934C>G | CA383286802 | SORL1 | c.824C>G (p.Ser275Cys) n.776C>G c.512C>G (p.Ser171Cys) c.299C>G (p.Ser100Cys) | |
| 11 | g.121496934C>T | CA383286801 | SORL1 | c.824C>T (p.Ser275Phe) n.776C>T c.512C>T (p.Ser171Phe) c.299C>T (p.Ser100Phe) | |
| 11 | g.121496935C>A | CA477310042 | SORL1 | c.825C>A (p.Ser275=) n.777C>A c.513C>A (p.Ser171=) c.300C>A (p.Ser100=) | |
| 11 | g.121496935C= | CA2004892536 | SORL1 | c.825C= (p.Ser275=) n.777C= c.513C= (p.Ser171=) c.300C= (p.Ser100=) | |
| 11 | g.121496935C>G | CA477310044 | SORL1 | c.825C>G (p.Ser275=) n.777C>G c.513C>G (p.Ser171=) c.300C>G (p.Ser100=) | |
| 11 | g.121496935C>T | CA477310043 | SORL1 | c.825C>T (p.Ser275=) n.777C>T c.513C>T (p.Ser171=) c.300C>T (p.Ser100=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121496936A= | CA2004892537 | SORL1 | c.826A= (p.Thr276=) n.778A= c.514A= (p.Thr172=) c.301A= (p.Thr101=) | |
| 11 | g.121496936A>C | CA383286803 | SORL1 | c.826A>C (p.Thr276Pro) n.778A>C c.514A>C (p.Thr172Pro) c.301A>C (p.Thr101Pro) | |
| 11 | g.121496936A>G | CA6328483 | SORL1 | c.826A>G (p.Thr276Ala) n.778A>G c.514A>G (p.Thr172Ala) c.301A>G (p.Thr101Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121496936A>T | CA383286804 | SORL1 | c.826A>T (p.Thr276Ser) n.778A>T c.514A>T (p.Thr172Ser) c.301A>T (p.Thr101Ser) | |
| 11 | g.121496937C>A | CA383286805 | SORL1 | c.827C>A (p.Thr276Asn) n.779C>A c.515C>A (p.Thr172Asn) c.302C>A (p.Thr101Asn) | |
| 11 | g.121496937C>G | CA383286806 | SORL1 | c.827C>G (p.Thr276Ser) n.779C>G c.515C>G (p.Thr172Ser) c.302C>G (p.Thr101Ser) | |
| 11 | g.121496937C>T | CA383286807 | SORL1 | c.827C>T (p.Thr276Ile) n.779C>T c.515C>T (p.Thr172Ile) c.302C>T (p.Thr101Ile) | dbSNP gnomAD v3 |
| 11 | g.121496938T>A | CA477310045 | SORL1 | c.828T>A (p.Thr276=) n.780T>A c.516T>A (p.Thr172=) c.303T>A (p.Thr101=) | |
| 11 | g.121496938T>C | CA477310046 | SORL1 | c.828T>C (p.Thr276=) n.780T>C c.516T>C (p.Thr172=) c.303T>C (p.Thr101=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496938T>G | CA477310047 | SORL1 | c.828T>G (p.Thr276=) n.780T>G c.516T>G (p.Thr172=) c.303T>G (p.Thr101=) | |
| 11 | g.121496938T= | CA2004892538 | SORL1 | c.828T= (p.Thr276=) n.780T= c.516T= (p.Thr172=) c.303T= (p.Thr101=) | |
| 11 | g.121496939G>A | CA6328484 | SORL1 | c.829G>A (p.Val277Ile) n.781G>A c.517G>A (p.Val173Ile) c.304G>A (p.Val102Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121496939G>C | CA6328485 | SORL1 | c.829G>C (p.Val277Leu) n.781G>C c.517G>C (p.Val173Leu) c.304G>C (p.Val102Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121496939G= | CA2004892539 | SORL1 | c.829G= (p.Val277=) n.781G= c.517G= (p.Val173=) c.304G= (p.Val102=) | |
| 11 | g.121496939G>T | CA383286808 | SORL1 | c.829G>T (p.Val277Phe) n.781G>T c.517G>T (p.Val173Phe) c.304G>T (p.Val102Phe) | |
| 11 | g.121496940T>A | CA383286809 | SORL1 | c.830T>A (p.Val277Asp) n.782T>A c.518T>A (p.Val173Asp) c.305T>A (p.Val102Asp) | |
| 11 | g.121496940T>C | CA383286810 | SORL1 | c.830T>C (p.Val277Ala) n.782T>C c.518T>C (p.Val173Ala) c.305T>C (p.Val102Ala) | |
| 11 | g.121496940T>G | CA383286811 | SORL1 | c.830T>G (p.Val277Gly) n.782T>G c.518T>G (p.Val173Gly) c.305T>G (p.Val102Gly) | |
| 11 | g.121496941C>A | CA477310048 | SORL1 | c.831C>A (p.Val277=) n.783C>A c.519C>A (p.Val173=) c.306C>A (p.Val102=) | |
| 11 | g.121496941C= | CA2004892540 | SORL1 | c.831C= (p.Val277=) n.783C= c.519C= (p.Val173=) c.306C= (p.Val102=) | |
| 11 | g.121496941C>G | CA477310049 | SORL1 | c.831C>G (p.Val277=) n.783C>G c.519C>G (p.Val173=) c.306C>G (p.Val102=) | |
| 11 | g.121496941C>T | CA229977273 | SORL1 | c.831C>T (p.Val277=) n.783C>T c.519C>T (p.Val173=) c.306C>T (p.Val102=) | dbSNP gnomAD v4 |
| 11 | g.121496942T>A | CA383286812 | SORL1 | c.832T>A (p.Phe278Ile) n.784T>A c.520T>A (p.Phe174Ile) c.307T>A (p.Phe103Ile) | |
| 11 | g.121496942T>C | CA383286813 | SORL1 | c.832T>C (p.Phe278Leu) n.784T>C c.520T>C (p.Phe174Leu) c.307T>C (p.Phe103Leu) | |
| 11 | g.121496942T>G | CA383286814 | SORL1 | c.832T>G (p.Phe278Val) n.784T>G c.520T>G (p.Phe174Val) c.307T>G (p.Phe103Val) | |
| 11 | g.121496943T>A | CA383286815 | SORL1 | c.833T>A (p.Phe278Tyr) n.785T>A c.521T>A (p.Phe174Tyr) c.308T>A (p.Phe103Tyr) | |
| 11 | g.121496943T>C | CA383286817 | SORL1 | c.833T>C (p.Phe278Ser) n.785T>C c.521T>C (p.Phe174Ser) c.308T>C (p.Phe103Ser) | |
| 11 | g.121496943T>G | CA383286816 | SORL1 | c.833T>G (p.Phe278Cys) n.785T>G c.521T>G (p.Phe174Cys) c.308T>G (p.Phe103Cys) | |
| 11 | g.121496944C>A | CA383286818 | SORL1 | c.834C>A (p.Phe278Leu) n.786C>A c.522C>A (p.Phe174Leu) c.309C>A (p.Phe103Leu) | |
| 11 | g.121496944C>G | CA383286819 | SORL1 | c.834C>G (p.Phe278Leu) n.786C>G c.522C>G (p.Phe174Leu) c.309C>G (p.Phe103Leu) | gnomAD v4 |
| 11 | g.121496944C>T | CA477310050 | SORL1 | c.834C>T (p.Phe278=) n.786C>T c.522C>T (p.Phe174=) c.309C>T (p.Phe103=) | |
| 11 | g.121496945C>A | CA477310051 | SORL1 | c.835C>A (p.Arg279=) n.787C>A c.523C>A (p.Arg175=) c.310C>A (p.Arg104=) | dbSNP |
| 11 | g.121496945C= | CA2004892541 | SORL1 | c.835C= (p.Arg279=) n.787C= c.523C= (p.Arg175=) c.310C= (p.Arg104=) | |
| 11 | g.121496945C>G | CA383286820 | SORL1 | c.835C>G (p.Arg279Gly) n.787C>G c.523C>G (p.Arg175Gly) c.310C>G (p.Arg104Gly) | |
| 11 | g.121496945C>T | CA383286821 | SORL1 | c.835C>T (p.Arg279Ter) n.787C>T c.523C>T (p.Arg175Ter) c.310C>T (p.Arg104Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496946G>A | CA229977286 | SORL1 | c.836G>A (p.Arg279Gln) n.788G>A c.524G>A (p.Arg175Gln) c.311G>A (p.Arg104Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496946G>C | CA383286822 | SORL1 | c.836G>C (p.Arg279Pro) n.788G>C c.524G>C (p.Arg175Pro) c.311G>C (p.Arg104Pro) | |
| 11 | g.121496946G= | CA2004892542 | SORL1 | c.836G= (p.Arg279=) n.788G= c.524G= (p.Arg175=) c.311G= (p.Arg104=) | |
| 11 | g.121496946G>T | CA383286823 | SORL1 | c.836G>T (p.Arg279Leu) n.788G>T c.524G>T (p.Arg175Leu) c.311G>T (p.Arg104Leu) | gnomAD v4 |
| 11 | g.121496947_121496949del | CA2616495969 | SORL1 | c.837_839del (p.Ser280del) n.789_791del c.525_527del (p.Ser176del) c.312_314del (p.Ser105del) | gnomAD v4 |
| 11 | g.121496947A>C | CA477310052 | SORL1 | c.837A>C (p.Arg279=) n.789A>C c.525A>C (p.Arg175=) c.312A>C (p.Arg104=) | |
| 11 | g.121496947A>G | CA477310053 | SORL1 | c.837A>G (p.Arg279=) n.789A>G c.525A>G (p.Arg175=) c.312A>G (p.Arg104=) | |
| 11 | g.121496947A>T | CA477310054 | SORL1 | c.837A>T (p.Arg279=) n.789A>T c.525A>T (p.Arg175=) c.312A>T (p.Arg104=) | |
| 11 | g.121496948A>C | CA383286824 | SORL1 | c.838A>C (p.Ser280Arg) n.790A>C c.526A>C (p.Ser176Arg) c.313A>C (p.Ser105Arg) | gnomAD v4 |
| 11 | g.121496948A>G | CA383286825 | SORL1 | c.838A>G (p.Ser280Gly) n.790A>G c.526A>G (p.Ser176Gly) c.313A>G (p.Ser105Gly) | gnomAD v4 |
| 11 | g.121496948A>T | CA383286826 | SORL1 | c.838A>T (p.Ser280Cys) n.790A>T c.526A>T (p.Ser176Cys) c.313A>T (p.Ser105Cys) | |
| 11 | g.121496949G>A | CA383286829 | SORL1 | c.839G>A (p.Ser280Asn) n.791G>A c.527G>A (p.Ser176Asn) c.314G>A (p.Ser105Asn) | dbSNP |
| 11 | g.121496949G>C | CA383286828 | SORL1 | c.839G>C (p.Ser280Thr) n.791G>C c.527G>C (p.Ser176Thr) c.314G>C (p.Ser105Thr) | |
| 11 | g.121496949G= | CA2004892543 | SORL1 | c.839G= (p.Ser280=) n.791G= c.527G= (p.Ser176=) c.314G= (p.Ser105=) | |
| 11 | g.121496949G>T | CA383286827 | SORL1 | c.839G>T (p.Ser280Ile) n.791G>T c.527G>T (p.Ser176Ile) c.314G>T (p.Ser105Ile) | |
| 11 | g.121496950T>A | CA383286831 | SORL1 | c.840T>A (p.Ser280Arg) n.792T>A c.528T>A (p.Ser176Arg) c.315T>A (p.Ser105Arg) | |
| 11 | g.121496950T>C | CA6328486 | SORL1 | c.840T>C (p.Ser280=) n.792T>C c.528T>C (p.Ser176=) c.315T>C (p.Ser105=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121496950T>G | CA383286830 | SORL1 | c.840T>G (p.Ser280Arg) n.792T>G c.528T>G (p.Ser176Arg) c.315T>G (p.Ser105Arg) | dbSNP |
| 11 | g.121496950T= | CA2004892544 | SORL1 | c.840T= (p.Ser280=) n.792T= c.528T= (p.Ser176=) c.315T= (p.Ser105=) | |
| 11 | g.121496951A>C | CA383286832 | SORL1 | c.841A>C (p.Thr281Pro) n.793A>C c.529A>C (p.Thr177Pro) c.316A>C (p.Thr106Pro) | |
| 11 | g.121496951A>G | CA383286833 | SORL1 | c.841A>G (p.Thr281Ala) n.793A>G c.529A>G (p.Thr177Ala) c.316A>G (p.Thr106Ala) | |
| 11 | g.121496951A>T | CA383286834 | SORL1 | c.841A>T (p.Thr281Ser) n.793A>T c.529A>T (p.Thr177Ser) c.316A>T (p.Thr106Ser) | |
| 11 | g.121496952C>A | CA383286835 | SORL1 | c.842C>A (p.Thr281Lys) n.794C>A c.530C>A (p.Thr177Lys) c.317C>A (p.Thr106Lys) | |
| 11 | g.121496952C>G | CA383286836 | SORL1 | c.842C>G (p.Thr281Arg) n.794C>G c.530C>G (p.Thr177Arg) c.317C>G (p.Thr106Arg) | |
| 11 | g.121496952C>T | CA383286837 | SORL1 | c.842C>T (p.Thr281Ile) n.794C>T c.530C>T (p.Thr177Ile) c.317C>T (p.Thr106Ile) | |
| 11 | g.121496953A= | CA2004892545 | SORL1 | c.843A= (p.Thr281=) n.795A= c.531A= (p.Thr177=) c.318A= (p.Thr106=) | |
| 11 | g.121496953A>C | CA477310055 | SORL1 | c.843A>C (p.Thr281=) n.795A>C c.531A>C (p.Thr177=) c.318A>C (p.Thr106=) | |
| 11 | g.121496953A>G | CA6328487 | SORL1 | c.843A>G (p.Thr281=) n.795A>G c.531A>G (p.Thr177=) c.318A>G (p.Thr106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496953A>T | CA477310056 | SORL1 | c.843A>T (p.Thr281=) n.795A>T c.531A>T (p.Thr177=) c.318A>T (p.Thr106=) | |
| 11 | g.121496954G>A | CA6328488 | SORL1 | c.844G>A (p.Asp282Asn) n.796G>A c.532G>A (p.Asp178Asn) c.319G>A (p.Asp107Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121496954G>C | CA383286838 | SORL1 | c.844G>C (p.Asp282His) n.796G>C c.532G>C (p.Asp178His) c.319G>C (p.Asp107His) | |
| 11 | g.121496954G= | CA2004892546 | SORL1 | c.844G= (p.Asp282=) n.796G= c.532G= (p.Asp178=) c.319G= (p.Asp107=) | |
| 11 | g.121496954G>T | CA383286839 | SORL1 | c.844G>T (p.Asp282Tyr) n.796G>T c.532G>T (p.Asp178Tyr) c.319G>T (p.Asp107Tyr) | COSMIC |
| 11 | g.121496955A>C | CA383286842 | SORL1 | c.845A>C (p.Asp282Ala) n.797A>C c.533A>C (p.Asp178Ala) c.320A>C (p.Asp107Ala) | |
| 11 | g.121496955A>G | CA383286841 | SORL1 | c.845A>G (p.Asp282Gly) n.797A>G c.533A>G (p.Asp178Gly) c.320A>G (p.Asp107Gly) | |
| 11 | g.121496955A>T | CA383286840 | SORL1 | c.845A>T (p.Asp282Val) n.797A>T c.533A>T (p.Asp178Val) c.320A>T (p.Asp107Val) | |
| 11 | g.121496956T>A | CA383286843 | SORL1 | c.846T>A (p.Asp282Glu) n.798T>A c.534T>A (p.Asp178Glu) c.321T>A (p.Asp107Glu) | |
| 11 | g.121496956T>C | CA477310057 | SORL1 | c.846T>C (p.Asp282=) n.798T>C c.534T>C (p.Asp178=) c.321T>C (p.Asp107=) | |
| 11 | g.121496956T>G | CA383286844 | SORL1 | c.846T>G (p.Asp282Glu) n.798T>G c.534T>G (p.Asp178Glu) c.321T>G (p.Asp107Glu) | |
| 11 | g.121496957T>A | CA383286845 | SORL1 | c.847T>A (p.Phe283Ile) n.799T>A c.535T>A (p.Phe179Ile) c.322T>A (p.Phe108Ile) | |
| 11 | g.121496957T>C | CA383286846 | SORL1 | c.847T>C (p.Phe283Leu) n.799T>C c.535T>C (p.Phe179Leu) c.322T>C (p.Phe108Leu) | |
| 11 | g.121496957T>G | CA383286847 | SORL1 | c.847T>G (p.Phe283Val) n.799T>G c.535T>G (p.Phe179Val) c.322T>G (p.Phe108Val) | |
| 11 | g.121496958T>A | CA383286848 | SORL1 | c.848T>A (p.Phe283Tyr) n.800T>A c.536T>A (p.Phe179Tyr) c.323T>A (p.Phe108Tyr) | |
| 11 | g.121496958T>C | CA383286849 | SORL1 | c.848T>C (p.Phe283Ser) n.800T>C c.536T>C (p.Phe179Ser) c.323T>C (p.Phe108Ser) | |
| 11 | g.121496958T>G | CA383286850 | SORL1 | c.848T>G (p.Phe283Cys) n.800T>G c.536T>G (p.Phe179Cys) c.323T>G (p.Phe108Cys) | |
| 11 | g.121496959C>A | CA383286851 | SORL1 | c.849C>A (p.Phe283Leu) n.801C>A c.537C>A (p.Phe179Leu) c.324C>A (p.Phe108Leu) | gnomAD v4 |
| 11 | g.121496959C>G | CA383286852 | SORL1 | c.849C>G (p.Phe283Leu) n.801C>G c.537C>G (p.Phe179Leu) c.324C>G (p.Phe108Leu) | |
| 11 | g.121496959C>T | CA477310058 | SORL1 | c.849C>T (p.Phe283=) n.801C>T c.537C>T (p.Phe179=) c.324C>T (p.Phe108=) | |
| 11 | g.121496960T>A | CA383286853 | SORL1 | c.850T>A (p.Phe284Ile) n.802T>A c.538T>A (p.Phe180Ile) c.325T>A (p.Phe109Ile) | |
| 11 | g.121496960T>C | CA383286854 | SORL1 | c.850T>C (p.Phe284Leu) n.802T>C c.538T>C (p.Phe180Leu) c.325T>C (p.Phe109Leu) | gnomAD v4 |
| 11 | g.121496960T>G | CA383286855 | SORL1 | c.850T>G (p.Phe284Val) n.802T>G c.538T>G (p.Phe180Val) c.325T>G (p.Phe109Val) | |
| 11 | g.121496961T>A | CA383286857 | SORL1 | c.851T>A (p.Phe284Tyr) n.803T>A c.539T>A (p.Phe180Tyr) c.326T>A (p.Phe109Tyr) | gnomAD v4 |
| 11 | g.121496961T>C | CA383286858 | SORL1 | c.851T>C (p.Phe284Ser) n.803T>C c.539T>C (p.Phe180Ser) c.326T>C (p.Phe109Ser) | |
| 11 | g.121496961T>G | CA383286856 | SORL1 | c.851T>G (p.Phe284Cys) n.803T>G c.539T>G (p.Phe180Cys) c.326T>G (p.Phe109Cys) | |
| 11 | g.121496962C>A | CA383286859 | SORL1 | c.852C>A (p.Phe284Leu) n.804C>A c.540C>A (p.Phe180Leu) c.327C>A (p.Phe109Leu) | |
| 11 | g.121496962C= | CA2004892547 | SORL1 | c.852C= (p.Phe284=) n.804C= c.540C= (p.Phe180=) c.327C= (p.Phe109=) | |
| 11 | g.121496962C>G | CA383286860 | SORL1 | c.852C>G (p.Phe284Leu) n.804C>G c.540C>G (p.Phe180Leu) c.327C>G (p.Phe109Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496962C>T | CA477310059 | SORL1 | c.852C>T (p.Phe284=) n.804C>T c.540C>T (p.Phe180=) c.327C>T (p.Phe109=) | |
| 11 | g.121496963C>A | CA383286861 | SORL1 | c.853C>A (p.Gln285Lys) n.805C>A c.541C>A (p.Gln181Lys) c.328C>A (p.Gln110Lys) | |
| 11 | g.121496963C>G | CA383286862 | SORL1 | c.853C>G (p.Gln285Glu) n.805C>G c.541C>G (p.Gln181Glu) c.328C>G (p.Gln110Glu) | |
| 11 | g.121496963C>T | CA383286863 | SORL1 | c.853C>T (p.Gln285Ter) n.805C>T c.541C>T (p.Gln181Ter) c.328C>T (p.Gln110Ter) | |
| 11 | g.121496964A>C | CA383286864 | SORL1 | c.854A>C (p.Gln285Pro) n.806A>C c.542A>C (p.Gln181Pro) c.329A>C (p.Gln110Pro) | |
| 11 | g.121496964A>G | CA383286865 | SORL1 | c.854A>G (p.Gln285Arg) n.806A>G c.542A>G (p.Gln181Arg) c.329A>G (p.Gln110Arg) | |
| 11 | g.121496964A>T | CA383286866 | SORL1 | c.854A>T (p.Gln285Leu) n.806A>T c.542A>T (p.Gln181Leu) c.329A>T (p.Gln110Leu) | |
| 11 | g.121496965G>A | CA477310060 | SORL1 | c.855G>A (p.Gln285=) n.807G>A c.543G>A (p.Gln181=) c.330G>A (p.Gln110=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121496965G>C | CA383286867 | SORL1 | c.855G>C (p.Gln285His) n.807G>C c.543G>C (p.Gln181His) c.330G>C (p.Gln110His) | |
| 11 | g.121496965G= | CA2004892548 | SORL1 | c.855G= (p.Gln285=) n.807G= c.543G= (p.Gln181=) c.330G= (p.Gln110=) | |
| 11 | g.121496965G>T | CA383286868 | SORL1 | c.855G>T (p.Gln285His) n.807G>T c.543G>T (p.Gln181His) c.330G>T (p.Gln110His) | COSMIC |
| 11 | g.121496966T>A | CA383286869 | SORL1 | c.856T>A (p.Ser286Thr) n.808T>A c.544T>A (p.Ser182Thr) c.331T>A (p.Ser111Thr) | |
| 11 | g.121496966T>C | CA383286870 | SORL1 | c.856T>C (p.Ser286Pro) n.808T>C c.544T>C (p.Ser182Pro) c.331T>C (p.Ser111Pro) | |
| 11 | g.121496966T>G | CA383286871 | SORL1 | c.856T>G (p.Ser286Ala) n.808T>G c.544T>G (p.Ser182Ala) c.331T>G (p.Ser111Ala) | |
| 11 | g.121496967C>A | CA383286873 | SORL1 | c.857C>A (p.Ser286Tyr) n.809C>A c.545C>A (p.Ser182Tyr) c.332C>A (p.Ser111Tyr) | |
| 11 | g.121496967C= | CA2004892549 | SORL1 | c.857C= (p.Ser286=) n.809C= c.545C= (p.Ser182=) c.332C= (p.Ser111=) | |
| 11 | g.121496967C>G | CA383286872 | SORL1 | c.857C>G (p.Ser286Cys) n.809C>G c.545C>G (p.Ser182Cys) c.332C>G (p.Ser111Cys) | |
| 11 | g.121496967C>T | CA229977293 | SORL1 | c.857C>T (p.Ser286Phe) n.809C>T c.545C>T (p.Ser182Phe) c.332C>T (p.Ser111Phe) | dbSNP gnomAD v4 |
| 11 | g.121496968C>A | CA477310061 | SORL1 | c.858C>A (p.Ser286=) n.810C>A c.546C>A (p.Ser182=) c.333C>A (p.Ser111=) | |
| 11 | g.121496968C= | CA2004892550 | SORL1 | c.858C= (p.Ser286=) n.810C= c.546C= (p.Ser182=) c.333C= (p.Ser111=) | |
| 11 | g.121496968C>G | CA477310062 | SORL1 | c.858C>G (p.Ser286=) n.810C>G c.546C>G (p.Ser182=) c.333C>G (p.Ser111=) | |
| 11 | g.121496968C>T | CA477310063 | SORL1 | c.858C>T (p.Ser286=) n.810C>T c.546C>T (p.Ser182=) c.333C>T (p.Ser111=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496969C>A | CA477310064 | SORL1 | c.859C>A (p.Arg287=) n.811C>A c.547C>A (p.Arg183=) c.334C>A (p.Arg112=) | |
| 11 | g.121496969C= | CA2004892551 | SORL1 | c.859C= (p.Arg287=) n.811C= c.547C= (p.Arg183=) c.334C= (p.Arg112=) | |
| 11 | g.121496969C>G | CA229977299 | SORL1 | c.859C>G (p.Arg287Gly) n.811C>G c.547C>G (p.Arg183Gly) c.334C>G (p.Arg112Gly) | dbSNP gnomAD v4 |
| 11 | g.121496969C>T | CA6328489 | SORL1 | c.859C>T (p.Arg287Trp) n.811C>T c.547C>T (p.Arg183Trp) c.334C>T (p.Arg112Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121496970G>A | CA6328490 | SORL1 | c.860G>A (p.Arg287Gln) n.812G>A c.548G>A (p.Arg183Gln) c.335G>A (p.Arg112Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.121496970G>C | CA383286874 | SORL1 | c.860G>C (p.Arg287Pro) n.812G>C c.548G>C (p.Arg183Pro) c.335G>C (p.Arg112Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121496970G= | CA2004892552 | SORL1 | c.860G= (p.Arg287=) n.812G= c.548G= (p.Arg183=) c.335G= (p.Arg112=) | |
| 11 | g.121496970G>T | CA383286875 | SORL1 | c.860G>T (p.Arg287Leu) n.812G>T c.548G>T (p.Arg183Leu) c.335G>T (p.Arg112Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121496972del | CA2573146949 | SORL1 | c.862del (p.Glu288LysfsTer5) n.814del c.550del (p.Glu184LysfsTer5) c.337del (p.Glu113LysfsTer5) | ClinVar dbSNP gnomAD v4 |
| 11 | g.121496971G>A | CA477310066 | SORL1 | c.861G>A (p.Arg287=) n.813G>A c.549G>A (p.Arg183=) c.336G>A (p.Arg112=) | |
| 11 | g.121496971G>C | CA477310067 | SORL1 | c.861G>C (p.Arg287=) n.813G>C c.549G>C (p.Arg183=) c.336G>C (p.Arg112=) | |
| 11 | g.121496971G>T | CA477310068 | SORL1 | c.861G>T (p.Arg287=) n.813G>T c.549G>T (p.Arg183=) c.336G>T (p.Arg112=) | gnomAD v4 |
| 11 | g.121496972G>A | CA383286876 | SORL1 | c.862G>A (p.Glu288Lys) n.814G>A c.550G>A (p.Glu184Lys) c.337G>A (p.Glu113Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496972G>C | CA383286877 | SORL1 | c.862G>C (p.Glu288Gln) n.814G>C c.550G>C (p.Glu184Gln) c.337G>C (p.Glu113Gln) | |
| 11 | g.121496972G= | CA2004892553 | SORL1 | c.862G= (p.Glu288=) n.814G= c.550G= (p.Glu184=) c.337G= (p.Glu113=) | |
| 11 | g.121496972G>T | CA383286878 | SORL1 | c.862G>T (p.Glu288Ter) n.814G>T c.550G>T (p.Glu184Ter) c.337G>T (p.Glu113Ter) | |
| 11 | g.121496973A>C | CA383286879 | SORL1 | c.863A>C (p.Glu288Ala) n.815A>C c.551A>C (p.Glu184Ala) c.338A>C (p.Glu113Ala) | |
| 11 | g.121496973A>G | CA383286880 | SORL1 | c.863A>G (p.Glu288Gly) n.815A>G c.551A>G (p.Glu184Gly) c.338A>G (p.Glu113Gly) | |
| 11 | g.121496973A>T | CA383286881 | SORL1 | c.863A>T (p.Glu288Val) n.815A>T c.551A>T (p.Glu184Val) c.338A>T (p.Glu113Val) | |
| 11 | g.121496974A>C | CA383286883 | SORL1 | c.864A>C (p.Glu288Asp) n.816A>C c.552A>C (p.Glu184Asp) c.339A>C (p.Glu113Asp) | |
| 11 | g.121496974A>G | CA477310070 | SORL1 | c.864A>G (p.Glu288=) n.816A>G c.552A>G (p.Glu184=) c.339A>G (p.Glu113=) | |
| 11 | g.121496974A>T | CA383286882 | SORL1 | c.864A>T (p.Glu288Asp) n.816A>T c.552A>T (p.Glu184Asp) c.339A>T (p.Glu113Asp) | |
| 11 | g.121496975A>C | CA383286884 | SORL1 | c.865A>C (p.Asn289His) n.817A>C c.553A>C (p.Asn185His) c.340A>C (p.Asn114His) | |
| 11 | g.121496975A>G | CA383286885 | SORL1 | c.865A>G (p.Asn289Asp) n.817A>G c.553A>G (p.Asn185Asp) c.340A>G (p.Asn114Asp) | |
| 11 | g.121496975A>T | CA383286886 | SORL1 | c.865A>T (p.Asn289Tyr) n.817A>T c.553A>T (p.Asn185Tyr) c.340A>T (p.Asn114Tyr) | |
| 11 | g.121496976A>C | CA383286887 | SORL1 | c.866A>C (p.Asn289Thr) n.818A>C c.554A>C (p.Asn185Thr) c.341A>C (p.Asn114Thr) | |
| 11 | g.121496976A>G | CA383286888 | SORL1 | c.866A>G (p.Asn289Ser) n.818A>G c.554A>G (p.Asn185Ser) c.341A>G (p.Asn114Ser) | |
| 11 | g.121496976A>T | CA383286889 | SORL1 | c.866A>T (p.Asn289Ile) n.818A>T c.554A>T (p.Asn185Ile) c.341A>T (p.Asn114Ile) | |
| 11 | g.121496977C>A | CA383286890 | SORL1 | c.867C>A (p.Asn289Lys) n.819C>A c.555C>A (p.Asn185Lys) c.342C>A (p.Asn114Lys) | |
| 11 | g.121496977C= | CA2004892554 | SORL1 | c.867C= (p.Asn289=) n.819C= c.555C= (p.Asn185=) c.342C= (p.Asn114=) | |
| 11 | g.121496977C>G | CA383286891 | SORL1 | c.867C>G (p.Asn289Lys) n.819C>G c.555C>G (p.Asn185Lys) c.342C>G (p.Asn114Lys) | |
| 11 | g.121496977C>T | CA229977311 | SORL1 | c.867C>T (p.Asn289=) n.819C>T c.555C>T (p.Asn185=) c.342C>T (p.Asn114=) | dbSNP gnomAD v4 |
| 11 | g.121496978C>A | CA383286892 | SORL1 | c.868C>A (p.Gln290Lys) n.820C>A c.556C>A (p.Gln186Lys) c.343C>A (p.Gln115Lys) | dbSNP |
| 11 | g.121496978C= | CA2004892555 | SORL1 | c.868C= (p.Gln290=) n.820C= c.556C= (p.Gln186=) c.343C= (p.Gln115=) | |
| 11 | g.121496978C>G | CA383286893 | SORL1 | c.868C>G (p.Gln290Glu) n.820C>G c.556C>G (p.Gln186Glu) c.343C>G (p.Gln115Glu) | |
| 11 | g.121496978C>T | CA383286894 | SORL1 | c.868C>T (p.Gln290Ter) n.820C>T c.556C>T (p.Gln186Ter) c.343C>T (p.Gln115Ter) | gnomAD v4 |
| 11 | g.121496979A>C | CA383286895 | SORL1 | c.869A>C (p.Gln290Pro) n.821A>C c.557A>C (p.Gln186Pro) c.344A>C (p.Gln115Pro) | |
| 11 | g.121496979A>G | CA383286896 | SORL1 | c.869A>G (p.Gln290Arg) n.821A>G c.557A>G (p.Gln186Arg) c.344A>G (p.Gln115Arg) | |
| 11 | g.121496979A>T | CA383286897 | SORL1 | c.869A>T (p.Gln290Leu) n.821A>T c.557A>T (p.Gln186Leu) c.344A>T (p.Gln115Leu) | |
| 11 | g.121496980G>A | CA477310071 | SORL1 | c.870G>A (p.Gln290=) n.822G>A c.558G>A (p.Gln186=) c.345G>A (p.Gln115=) | gnomAD v4 |
| 11 | g.121496980G>C | CA383286898 | SORL1 | c.870G>C (p.Gln290His) n.822G>C c.558G>C (p.Gln186His) c.345G>C (p.Gln115His) | |
| 11 | g.121496980G>T | CA383286899 | SORL1 | c.870G>T (p.Gln290His) n.822G>T c.558G>T (p.Gln186His) c.345G>T (p.Gln115His) | |
| 11 | g.121496981G>A | CA383286900 | SORL1 | c.871G>A (p.Glu291Lys) n.823G>A c.559G>A (p.Glu187Lys) c.346G>A (p.Glu116Lys) | |
| 11 | g.121496981G>C | CA383286901 | SORL1 | c.871G>C (p.Glu291Gln) n.823G>C c.559G>C (p.Glu187Gln) c.346G>C (p.Glu116Gln) | |
| 11 | g.121496981G>T | CA383286902 | SORL1 | c.871G>T (p.Glu291Ter) n.823G>T c.559G>T (p.Glu187Ter) c.346G>T (p.Glu116Ter) | |
| 11 | g.121496982A>C | CA383286903 | SORL1 | c.872A>C (p.Glu291Ala) n.824A>C c.560A>C (p.Glu187Ala) c.347A>C (p.Glu116Ala) | gnomAD v4 |
| 11 | g.121496982A>G | CA383286904 | SORL1 | c.872A>G (p.Glu291Gly) n.824A>G c.560A>G (p.Glu187Gly) c.347A>G (p.Glu116Gly) | |
| 11 | g.121496982A>T | CA383286905 | SORL1 | c.872A>T (p.Glu291Val) n.824A>T c.560A>T (p.Glu187Val) c.347A>T (p.Glu116Val) | |
| 11 | g.121496983A= | CA2004892556 | SORL1 | c.873A= (p.Glu291=) n.825A= c.561A= (p.Glu187=) c.348A= (p.Glu116=) | |
| 11 | g.121496983A>C | CA383286906 | SORL1 | c.873A>C (p.Glu291Asp) n.825A>C c.561A>C (p.Glu187Asp) c.348A>C (p.Glu116Asp) | |
| 11 | g.121496983A>G | CA6328491 | SORL1 | c.873A>G (p.Glu291=) n.825A>G c.561A>G (p.Glu187=) c.348A>G (p.Glu116=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121496983A>T | CA383286907 | SORL1 | c.873A>T (p.Glu291Asp) n.825A>T c.561A>T (p.Glu187Asp) c.348A>T (p.Glu116Asp) | |
| 11 | g.121496984G>A | CA229977324 | SORL1 | c.874G>A (p.Val292Met) n.826G>A c.562G>A (p.Val188Met) c.349G>A (p.Val117Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121496984G>C | CA383286908 | SORL1 | c.874G>C (p.Val292Leu) n.826G>C c.562G>C (p.Val188Leu) c.349G>C (p.Val117Leu) | |
| 11 | g.121496984G= | CA2004892557 | SORL1 | c.874G= (p.Val292=) n.826G= c.562G= (p.Val188=) c.349G= (p.Val117=) | |
| 11 | g.121496984G>T | CA383286909 | SORL1 | c.874G>T (p.Val292Leu) n.826G>T c.562G>T (p.Val188Leu) c.349G>T (p.Val117Leu) | |
| 11 | g.121496985T>A | CA383286911 | SORL1 | c.875T>A (p.Val292Glu) n.827T>A c.563T>A (p.Val188Glu) c.350T>A (p.Val117Glu) | |
| 11 | g.121496985T>C | CA383286912 | SORL1 | c.875T>C (p.Val292Ala) n.827T>C c.563T>C (p.Val188Ala) c.350T>C (p.Val117Ala) | |
| 11 | g.121496985T>G | CA383286910 | SORL1 | c.875T>G (p.Val292Gly) n.827T>G c.563T>G (p.Val188Gly) c.350T>G (p.Val117Gly) | |
| 11 | g.121496986G>A | CA477310072 | SORL1 | c.876G>A (p.Val292=) n.828G>A c.564G>A (p.Val188=) c.351G>A (p.Val117=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496986G>C | CA477310073 | SORL1 | c.876G>C (p.Val292=) n.828G>C c.564G>C (p.Val188=) c.351G>C (p.Val117=) | |
| 11 | g.121496986G= | CA2004892558 | SORL1 | c.876G= (p.Val292=) n.828G= c.564G= (p.Val188=) c.351G= (p.Val117=) | |
| 11 | g.121496986G>T | CA477310074 | SORL1 | c.876G>T (p.Val292=) n.828G>T c.564G>T (p.Val188=) c.351G>T (p.Val117=) | |
| 11 | g.121496987A>C | CA383286915 | SORL1 | c.877A>C (p.Ile293Leu) n.829A>C c.565A>C (p.Ile189Leu) c.352A>C (p.Ile118Leu) | |
| 11 | g.121496987A>G | CA383286913 | SORL1 | c.877A>G (p.Ile293Val) n.829A>G c.565A>G (p.Ile189Val) c.352A>G (p.Ile118Val) | |
| 11 | g.121496987A>T | CA383286914 | SORL1 | c.877A>T (p.Ile293Phe) n.829A>T c.565A>T (p.Ile189Phe) c.352A>T (p.Ile118Phe) | |
| 11 | g.121496988T>A | CA383286916 | SORL1 | c.878T>A (p.Ile293Asn) n.830T>A c.566T>A (p.Ile189Asn) c.353T>A (p.Ile118Asn) | |
| 11 | g.121496988T>C | CA383286917 | SORL1 | c.878T>C (p.Ile293Thr) n.830T>C c.566T>C (p.Ile189Thr) c.353T>C (p.Ile118Thr) | |
| 11 | g.121496988T>G | CA383286918 | SORL1 | c.878T>G (p.Ile293Ser) n.830T>G c.566T>G (p.Ile189Ser) c.353T>G (p.Ile118Ser) | |
| 11 | g.121496989C>A | CA477310075 | SORL1 | c.879C>A (p.Ile293=) n.831C>A c.567C>A (p.Ile189=) c.354C>A (p.Ile118=) | |
| 11 | g.121496989C= | CA2004892559 | SORL1 | c.879C= (p.Ile293=) n.831C= c.567C= (p.Ile189=) c.354C= (p.Ile118=) | |
| 11 | g.121496989C>G | CA383286919 | SORL1 | c.879C>G (p.Ile293Met) n.831C>G c.567C>G (p.Ile189Met) c.354C>G (p.Ile118Met) | |
| 11 | g.121496989C>T | CA477310076 | SORL1 | c.879C>T (p.Ile293=) n.831C>T c.567C>T (p.Ile189=) c.354C>T (p.Ile118=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496990C>A | CA383286920 | SORL1 | c.880C>A (p.Leu294Ile) n.832C>A c.568C>A (p.Leu190Ile) c.355C>A (p.Leu119Ile) | |
| 11 | g.121496990C= | CA2004892560 | SORL1 | c.880C= (p.Leu294=) n.832C= c.568C= (p.Leu190=) c.355C= (p.Leu119=) | |
| 11 | g.121496990C>G | CA383286921 | SORL1 | c.880C>G (p.Leu294Val) n.832C>G c.568C>G (p.Leu190Val) c.355C>G (p.Leu119Val) | gnomAD v4 |
| 11 | g.121496990C>T | CA6328492 | SORL1 | c.880C>T (p.Leu294Phe) n.832C>T c.568C>T (p.Leu190Phe) c.355C>T (p.Leu119Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.121496991T>A | CA383286922 | SORL1 | c.881T>A (p.Leu294His) n.833T>A c.569T>A (p.Leu190His) c.356T>A (p.Leu119His) | |
| 11 | g.121496991T>C | CA383286923 | SORL1 | c.881T>C (p.Leu294Pro) n.833T>C c.569T>C (p.Leu190Pro) c.356T>C (p.Leu119Pro) | gnomAD v4 |
| 11 | g.121496991T>G | CA383286924 | SORL1 | c.881T>G (p.Leu294Arg) n.833T>G c.569T>G (p.Leu190Arg) c.356T>G (p.Leu119Arg) | |
| 11 | g.121496992T>A | CA477310077 | SORL1 | c.882T>A (p.Leu294=) n.834T>A c.570T>A (p.Leu190=) c.357T>A (p.Leu119=) | |
| 11 | g.121496992T>C | CA477310078 | SORL1 | c.882T>C (p.Leu294=) n.834T>C c.570T>C (p.Leu190=) c.357T>C (p.Leu119=) | |
| 11 | g.121496992T>G | CA477310079 | SORL1 | c.882T>G (p.Leu294=) n.834T>G c.570T>G (p.Leu190=) c.357T>G (p.Leu119=) | |
| 11 | g.121496992_121496995delinsTGAG | CA2004892561 | SORL1 | c.882_885delinsTGAG (p.Leu294=) n.834_837delinsTGAG c.570_573delinsTGAG (p.Leu190=) c.357_360delinsTGAG (p.Leu119=) | |
| 11 | g.121496993G>A | CA383286926 | SORL1 | c.883G>A (p.Glu295Lys) n.835G>A c.571G>A (p.Glu191Lys) c.358G>A (p.Glu120Lys) | ClinVar gnomAD v4 |
| 11 | g.121496993G>C | CA383286927 | SORL1 | c.883G>C (p.Glu295Gln) n.835G>C c.571G>C (p.Glu191Gln) c.358G>C (p.Glu120Gln) | |
| 11 | g.121496993G>T | CA383286925 | SORL1 | c.883G>T (p.Glu295Ter) n.835G>T c.571G>T (p.Glu191Ter) c.358G>T (p.Glu120Ter) | |
| 11 | g.121496995_121496997del | CA6328493 | SORL1 | c.885_887del (p.Glu296del) n.837_839del c.573_575del (p.Glu192del) c.360_362del (p.Glu121del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121496994A= | CA2004892564 | SORL1 | c.884A= (p.Glu295=) n.836A= c.572A= (p.Glu191=) c.359A= (p.Glu120=) | |
| 11 | g.121496994A>C | CA383286930 | SORL1 | c.884A>C (p.Glu295Ala) n.836A>C c.572A>C (p.Glu191Ala) c.359A>C (p.Glu120Ala) | |
| 11 | g.121496994A>G | CA383286928 | SORL1 | c.884A>G (p.Glu295Gly) n.836A>G c.572A>G (p.Glu191Gly) c.359A>G (p.Glu120Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496994A>T | CA383286929 | SORL1 | c.884A>T (p.Glu295Val) n.836A>T c.572A>T (p.Glu191Val) c.359A>T (p.Glu120Val) | |
| 11 | g.121496995G>A | CA477310080 | SORL1 | c.885G>A (p.Glu295=) n.837G>A c.573G>A (p.Glu191=) c.360G>A (p.Glu120=) | |
| 11 | g.121496995G>C | CA383286931 | SORL1 | c.885G>C (p.Glu295Asp) n.837G>C c.573G>C (p.Glu191Asp) c.360G>C (p.Glu120Asp) | |
| 11 | g.121496995G>T | CA383286932 | SORL1 | c.885G>T (p.Glu295Asp) n.837G>T c.573G>T (p.Glu191Asp) c.360G>T (p.Glu120Asp) | |
| 11 | g.121496996G>A | CA383286933 | SORL1 | c.886G>A (p.Glu296Lys) n.838G>A c.574G>A (p.Glu192Lys) c.361G>A (p.Glu121Lys) | |
| 11 | g.121496996G>C | CA383286934 | SORL1 | c.886G>C (p.Glu296Gln) n.838G>C c.574G>C (p.Glu192Gln) c.361G>C (p.Glu121Gln) | |
| 11 | g.121496996G>T | CA383286935 | SORL1 | c.886G>T (p.Glu296Ter) n.838G>T c.574G>T (p.Glu192Ter) c.361G>T (p.Glu121Ter) | |
| 11 | g.121496997A>C | CA383286936 | SORL1 | c.887A>C (p.Glu296Ala) n.839A>C c.575A>C (p.Glu192Ala) c.362A>C (p.Glu121Ala) | |
| 11 | g.121496997A>G | CA383286937 | SORL1 | c.887A>G (p.Glu296Gly) n.839A>G c.575A>G (p.Glu192Gly) c.362A>G (p.Glu121Gly) | |
| 11 | g.121496997A>T | CA383286938 | SORL1 | c.887A>T (p.Glu296Val) n.839A>T c.575A>T (p.Glu192Val) c.362A>T (p.Glu121Val) | |
| 11 | g.121496998A>C | CA383286939 | SORL1 | c.888A>C (p.Glu296Asp) n.840A>C c.576A>C (p.Glu192Asp) c.363A>C (p.Glu121Asp) | |
| 11 | g.121496998A>G | CA477310081 | SORL1 | c.888A>G (p.Glu296=) n.840A>G c.576A>G (p.Glu192=) c.363A>G (p.Glu121=) | |
| 11 | g.121496998A>T | CA383286940 | SORL1 | c.888A>T (p.Glu296Asp) n.840A>T c.576A>T (p.Glu192Asp) c.363A>T (p.Glu121Asp) | |
| 11 | g.121496999G>A | CA229977356 | SORL1 | c.889G>A (p.Val297Met) n.841G>A c.577G>A (p.Val193Met) c.364G>A (p.Val122Met) | dbSNP |
| 11 | g.121496999G>C | CA383286942 | SORL1 | c.889G>C (p.Val297Leu) n.841G>C c.577G>C (p.Val193Leu) c.364G>C (p.Val122Leu) | dbSNP |
| 11 | g.121496999G= | CA2004892568 | SORL1 | c.889G= (p.Val297=) n.841G= c.577G= (p.Val193=) c.364G= (p.Val122=) | |
| 11 | g.121496999G>T | CA383286941 | SORL1 | c.889G>T (p.Val297Leu) n.841G>T c.577G>T (p.Val193Leu) c.364G>T (p.Val122Leu) | |
| 11 | g.121497000T>A | CA383286943 | SORL1 | c.890T>A (p.Val297Glu) n.842T>A c.578T>A (p.Val193Glu) c.365T>A (p.Val122Glu) | |
| 11 | g.121497000T>C | CA383286944 | SORL1 | c.890T>C (p.Val297Ala) n.842T>C c.578T>C (p.Val193Ala) c.365T>C (p.Val122Ala) | |
| 11 | g.121497000T>G | CA383286945 | SORL1 | c.890T>G (p.Val297Gly) n.842T>G c.578T>G (p.Val193Gly) c.365T>G (p.Val122Gly) | |
| 11 | g.121497001G>A | CA477310083 | SORL1 | c.891G>A (p.Val297=) n.843G>A c.579G>A (p.Val193=) c.366G>A (p.Val122=) | |
| 11 | g.121497001G>C | CA229977357 | SORL1 | c.891G>C (p.Val297=) n.843G>C c.579G>C (p.Val193=) c.366G>C (p.Val122=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121497001G= | CA2004892570 | SORL1 | c.891G= (p.Val297=) n.843G= c.579G= (p.Val193=) c.366G= (p.Val122=) | |
| 11 | g.121497001G>T | CA477310082 | SORL1 | c.891G>T (p.Val297=) n.843G>T c.579G>T (p.Val193=) c.366G>T (p.Val122=) | |
| 11 | g.121497002A= | CA2004892576 | SORL1 | c.892A= (p.Arg298=) n.844A= c.580A= (p.Arg194=) c.367A= (p.Arg123=) | |
| 11 | g.121497002A>C | CA477310084 | SORL1 | c.892A>C (p.Arg298=) n.844A>C c.580A>C (p.Arg194=) c.367A>C (p.Arg123=) | |
| 11 | g.121497002A>G | CA6328494 | SORL1 | c.892A>G (p.Arg298Gly) n.844A>G c.580A>G (p.Arg194Gly) c.367A>G (p.Arg123Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121497002A>T | CA383286946 | SORL1 | c.892A>T (p.Arg298Ter) n.844A>T c.580A>T (p.Arg194Ter) c.367A>T (p.Arg123Ter) | |
| 11 | g.121497003G>A | CA383286948 | SORL1 | c.893G>A (p.Arg298Lys) n.845G>A c.581G>A (p.Arg194Lys) c.368G>A (p.Arg123Lys) | |
| 11 | g.121497003G>C | CA229977366 | SORL1 | c.893G>C (p.Arg298Thr) n.845G>C c.581G>C (p.Arg194Thr) c.368G>C (p.Arg123Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121497003G= | CA2004892580 | SORL1 | c.893G= (p.Arg298=) n.845G= c.581G= (p.Arg194=) c.368G= (p.Arg123=) | |
| 11 | g.121497003G>T | CA383286947 | SORL1 | c.893G>T (p.Arg298Ile) n.845G>T c.581G>T (p.Arg194Ile) c.368G>T (p.Arg123Ile) | |
| 11 | g.121497004A>C | CA383286949 | SORL1 | c.894A>C (p.Arg298Ser) n.846A>C c.582A>C (p.Arg194Ser) c.369A>C (p.Arg123Ser) | |
| 11 | g.121497004A>G | CA477310085 | SORL1 | c.894A>G (p.Arg298=) n.846A>G c.582A>G (p.Arg194=) c.369A>G (p.Arg123=) | |
| 11 | g.121497004A>T | CA383286950 | SORL1 | c.894A>T (p.Arg298Ser) n.846A>T c.582A>T (p.Arg194Ser) c.369A>T (p.Arg123Ser) | |
| 11 | g.121497005G>A | CA383286951 | SORL1 | c.895G>A (p.Asp299Asn) n.847G>A c.583G>A (p.Asp195Asn) c.370G>A (p.Asp124Asn) | |
| 11 | g.121497005G>C | CA383286952 | SORL1 | c.895G>C (p.Asp299His) n.847G>C c.583G>C (p.Asp195His) c.370G>C (p.Asp124His) | |
| 11 | g.121497005G>T | CA383286953 | SORL1 | c.895G>T (p.Asp299Tyr) n.847G>T c.583G>T (p.Asp195Tyr) c.370G>T (p.Asp124Tyr) | |
| 11 | g.121497006A= | CA2004892584 | SORL1 | c.896A= (p.Asp299=) n.848A= c.584A= (p.Asp195=) c.371A= (p.Asp124=) | |
| 11 | g.121497006A>C | CA383286954 | SORL1 | c.896A>C (p.Asp299Ala) n.848A>C c.584A>C (p.Asp195Ala) c.371A>C (p.Asp124Ala) | |
| 11 | g.121497006A>G | CA383286956 | SORL1 | c.896A>G (p.Asp299Gly) n.848A>G c.584A>G (p.Asp195Gly) c.371A>G (p.Asp124Gly) | dbSNP |
| 11 | g.121497006A>T | CA383286955 | SORL1 | c.896A>T (p.Asp299Val) n.848A>T c.584A>T (p.Asp195Val) c.371A>T (p.Asp124Val) | |
| 11 | g.121497007T>A | CA383286957 | SORL1 | c.897T>A (p.Asp299Glu) n.849T>A c.585T>A (p.Asp195Glu) c.372T>A (p.Asp124Glu) | |
| 11 | g.121497007T>C | CA477310086 | SORL1 | c.897T>C (p.Asp299=) n.849T>C c.585T>C (p.Asp195=) c.372T>C (p.Asp124=) | |
| 11 | g.121497007T>G | CA383286958 | SORL1 | c.897T>G (p.Asp299Glu) n.849T>G c.585T>G (p.Asp195Glu) c.372T>G (p.Asp124Glu) | |
| 11 | g.121497008T>A | CA383286959 | SORL1 | c.898T>A (p.Phe300Ile) n.850T>A c.586T>A (p.Phe196Ile) c.373T>A (p.Phe125Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121497008T>C | CA383286960 | SORL1 | c.898T>C (p.Phe300Leu) n.850T>C c.586T>C (p.Phe196Leu) c.373T>C (p.Phe125Leu) | gnomAD v4 |
| 11 | g.121497008T>G | CA383286961 | SORL1 | c.898T>G (p.Phe300Val) n.850T>G c.586T>G (p.Phe196Val) c.373T>G (p.Phe125Val) | |
| 11 | g.121497008T= | CA2004892588 | SORL1 | c.898T= (p.Phe300=) n.850T= c.586T= (p.Phe196=) c.373T= (p.Phe125=) | |
| 11 | g.121497009T>A | CA383286962 | SORL1 | c.899T>A (p.Phe300Tyr) n.851T>A c.587T>A (p.Phe196Tyr) c.374T>A (p.Phe125Tyr) | |
| 11 | g.121497009T>C | CA383286963 | SORL1 | c.899T>C (p.Phe300Ser) n.851T>C c.587T>C (p.Phe196Ser) c.374T>C (p.Phe125Ser) | |
| 11 | g.121497009T>G | CA383286964 | SORL1 | c.899T>G (p.Phe300Cys) n.851T>G c.587T>G (p.Phe196Cys) c.374T>G (p.Phe125Cys) | |
| 11 | g.121497010T>A | CA383286965 | SORL1 | c.900T>A (p.Phe300Leu) n.852T>A c.588T>A (p.Phe196Leu) c.375T>A (p.Phe125Leu) | |
| 11 | g.121497010T>C | CA477310087 | SORL1 | c.900T>C (p.Phe300=) n.852T>C c.588T>C (p.Phe196=) c.375T>C (p.Phe125=) | |
| 11 | g.121497010T>G | CA383286966 | SORL1 | c.900T>G (p.Phe300Leu) n.852T>G c.588T>G (p.Phe196Leu) c.375T>G (p.Phe125Leu) | |
| 11 | g.121497011C>A | CA383286969 | SORL1 | c.901C>A (p.Gln301Lys) n.853C>A c.589C>A (p.Gln197Lys) c.376C>A (p.Gln126Lys) | |
| 11 | g.121497011C>G | CA383286968 | SORL1 | c.901C>G (p.Gln301Glu) n.853C>G c.589C>G (p.Gln197Glu) c.376C>G (p.Gln126Glu) | COSMIC |
| 11 | g.121497011C>T | CA383286967 | SORL1 | c.901C>T (p.Gln301Ter) n.853C>T c.589C>T (p.Gln197Ter) c.376C>T (p.Gln126Ter) | gnomAD v4 |
| 11 | g.121497012A>C | CA383286970 | SORL1 | c.902A>C (p.Gln301Pro) n.854A>C c.590A>C (p.Gln197Pro) c.377A>C (p.Gln126Pro) | |
| 11 | g.121497012A>G | CA383286972 | SORL1 | c.902A>G (p.Gln301Arg) n.854A>G c.590A>G (p.Gln197Arg) c.377A>G (p.Gln126Arg) | gnomAD v4 |
| 11 | g.121497012A>T | CA383286971 | SORL1 | c.902A>T (p.Gln301Leu) n.854A>T c.590A>T (p.Gln197Leu) c.377A>T (p.Gln126Leu) | |
| 11 | g.121497013G>A | CA477310088 | SORL1 | c.903G>A (p.Gln301=) n.855G>A c.591G>A (p.Gln197=) c.378G>A (p.Gln126=) | |
| 11 | g.121497013G>C | CA383286973 | SORL1 | c.903G>C (p.Gln301His) n.855G>C c.591G>C (p.Gln197His) c.378G>C (p.Gln126His) | |
| 11 | g.121497013G>T | CA383286974 | SORL1 | c.903G>T (p.Gln301His) n.855G>T c.591G>T (p.Gln197His) c.378G>T (p.Gln126His) | |
| 11 | g.121497014C>A | CA383286975 | SORL1 | c.904C>A (p.Leu302Ile) n.856C>A c.592C>A (p.Leu198Ile) c.379C>A (p.Leu127Ile) | |
| 11 | g.121497014C>G | CA383286976 | SORL1 | c.904C>G (p.Leu302Val) n.856C>G c.592C>G (p.Leu198Val) c.379C>G (p.Leu127Val) | gnomAD v4 |
| 11 | g.121497014C>T | CA383286977 | SORL1 | c.904C>T (p.Leu302Phe) n.856C>T c.592C>T (p.Leu198Phe) c.379C>T (p.Leu127Phe) | |
| 11 | g.121497015T>A | CA383286978 | SORL1 | c.905T>A (p.Leu302His) n.857T>A c.593T>A (p.Leu198His) c.380T>A (p.Leu127His) | |
| 11 | g.121497015T>C | CA383286979 | SORL1 | c.905T>C (p.Leu302Pro) n.857T>C c.593T>C (p.Leu198Pro) c.380T>C (p.Leu127Pro) | |
| 11 | g.121497015T>G | CA383286980 | SORL1 | c.905T>G (p.Leu302Arg) n.857T>G c.593T>G (p.Leu198Arg) c.380T>G (p.Leu127Arg) | |
| 11 | g.121497016T>A | CA477310089 | SORL1 | c.906T>A (p.Leu302=) n.858T>A c.594T>A (p.Leu198=) c.381T>A (p.Leu127=) | |
| 11 | g.121497016T>C | CA477310090 | SORL1 | c.906T>C (p.Leu302=) n.858T>C c.594T>C (p.Leu198=) c.381T>C (p.Leu127=) | |
| 11 | g.121497016T>G | CA477310091 | SORL1 | c.906T>G (p.Leu302=) n.858T>G c.594T>G (p.Leu198=) c.381T>G (p.Leu127=) | |
| 11 | g.121497017C>A | CA477310092 | SORL1 | c.907C>A (p.Arg303=) n.859C>A c.595C>A (p.Arg199=) c.382C>A (p.Arg128=) | |
| 11 | g.121497017C= | CA2004892591 | SORL1 | c.907C= (p.Arg303=) n.859C= c.595C= (p.Arg199=) c.382C= (p.Arg128=) | |
| 11 | g.121497017C>G | CA383286981 | SORL1 | c.907C>G (p.Arg303Gly) n.859C>G c.595C>G (p.Arg199Gly) c.382C>G (p.Arg128Gly) | |
| 11 | g.121497017C>T | CA6328495 | SORL1 | c.907C>T (p.Arg303Trp) n.859C>T c.595C>T (p.Arg199Trp) c.382C>T (p.Arg128Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |