Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909001G>A | CA507947655 | APOE | c.705G>A (p.Arg235=) c.783G>A (p.Arg261=) | dbSNP gnomAD v4 |
19 | g.44909001G>C | CA507947656 | APOE | c.705G>C (p.Arg235=) c.783G>C (p.Arg261=) | |
19 | g.44909001G= | CA2338168006 | APOE | c.705G= (p.Arg235=) c.783G= (p.Arg261=) | |
19 | g.44909001G>T | CA507947657 | APOE | c.705G>T (p.Arg235=) c.783G>T (p.Arg261=) | gnomAD v4 |
19 | g.44909002A>C | CA406304768 | APOE | c.706A>C (p.Met236Leu) c.784A>C (p.Met262Leu) | |
19 | g.44909002A>G | CA406304770 | APOE | c.706A>G (p.Met236Val) c.784A>G (p.Met262Val) | |
19 | g.44909002A>T | CA406304772 | APOE | c.706A>T (p.Met236Leu) c.784A>T (p.Met262Leu) | |
19 | g.44909003T>A | CA406304773 | APOE | c.707T>A (p.Met236Lys) c.785T>A (p.Met262Lys) | |
19 | g.44909003T>C | CA406304774 | APOE | c.707T>C (p.Met236Thr) c.785T>C (p.Met262Thr) | |
19 | g.44909003T>G | CA406304775 | APOE | c.707T>G (p.Met236Arg) c.785T>G (p.Met262Arg) | |
19 | g.44909003_44909006delinsTGGA | CA2338168007 | APOE | c.707_710delinsTGGA (p.Met236=) c.785_788delinsTGGA (p.Met262=) | |
19 | g.44909004G>A | CA406304788 | APOE | c.708G>A (p.Met236Ile) c.786G>A (p.Met262Ile) | |
19 | g.44909004G>C | CA406304786 | APOE | c.708G>C (p.Met236Ile) c.786G>C (p.Met262Ile) | |
19 | g.44909004G= | CA2338168008 | APOE | c.708G= (p.Met236=) c.786G= (p.Met262=) | |
19 | g.44909004G>T | CA406304783 | APOE | c.708G>T (p.Met236Ile) c.786G>T (p.Met262Ile) | dbSNP gnomAD v4 |
19 | g.44909008_44909010del | CA633478462 | APOE | c.712_714del (p.Glu238del) c.790_792del (p.Glu264del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909005G>A | CA406304791 | APOE | c.709G>A (p.Glu237Lys) c.787G>A (p.Glu263Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909005G>C | CA406304794 | APOE | c.709G>C (p.Glu237Gln) c.787G>C (p.Glu263Gln) | |
19 | g.44909005G= | CA2338168009 | APOE | c.709G= (p.Glu237=) c.787G= (p.Glu263=) | |
19 | g.44909005G>T | CA406304796 | APOE | c.709G>T (p.Glu237Ter) c.787G>T (p.Glu263Ter) | gnomAD v4 |
19 | g.44909006A>C | CA406304798 | APOE | c.710A>C (p.Glu237Ala) c.788A>C (p.Glu263Ala) | |
19 | g.44909006A>G | CA406304801 | APOE | c.710A>G (p.Glu237Gly) c.788A>G (p.Glu263Gly) | gnomAD v4 |
19 | g.44909006A>T | CA406304805 | APOE | c.710A>T (p.Glu237Val) c.788A>T (p.Glu263Val) | |
19 | g.44909007G>A | CA308885954 | APOE | c.711G>A (p.Glu237=) c.789G>A (p.Glu263=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909007G>C | CA406304807 | APOE | c.711G>C (p.Glu237Asp) c.789G>C (p.Glu263Asp) | |
19 | g.44909007G= | CA2338168010 | APOE | c.711G= (p.Glu237=) c.789G= (p.Glu263=) | |
19 | g.44909007G>T | CA406304809 | APOE | c.711G>T (p.Glu237Asp) c.789G>T (p.Glu263Asp) | gnomAD v4 |
19 | g.44909008G>A | CA406304812 | APOE | c.712G>A (p.Glu238Lys) c.790G>A (p.Glu264Lys) | |
19 | g.44909008G>C | CA406304814 | APOE | c.712G>C (p.Glu238Gln) c.790G>C (p.Glu264Gln) | |
19 | g.44909008G= | CA2338168011 | APOE | c.712G= (p.Glu238=) c.790G= (p.Glu264=) | |
19 | g.44909008G>T | CA406304815 | APOE | c.712G>T (p.Glu238Ter) c.790G>T (p.Glu264Ter) | gnomAD v4 |
19 | g.44909009A>C | CA406304822 | APOE | c.713A>C (p.Glu238Ala) c.791A>C (p.Glu264Ala) | |
19 | g.44909009A>G | CA406304820 | APOE | c.713A>G (p.Glu238Gly) c.791A>G (p.Glu264Gly) | |
19 | g.44909009A>T | CA406304817 | APOE | c.713A>T (p.Glu238Val) c.791A>T (p.Glu264Val) | |
19 | g.44909011_44909018dup | CA2338168012 | APOE | c.715_722dup (p.Ser241ArgfsTer13) c.793_800dup (p.Ser267ArgfsTer?) c.793_800dup (p.Ser267ArgfsTer13) | dbSNP |
19 | g.44909010G>A | CA507947670 | APOE | c.714G>A (p.Glu238=) c.792G>A (p.Glu264=) | |
19 | g.44909010G>C | CA406304826 | APOE | c.714G>C (p.Glu238Asp) c.792G>C (p.Glu264Asp) | ClinVar gnomAD v4 |
19 | g.44909010G= | CA2338168013 | APOE | c.714G= (p.Glu238=) c.792G= (p.Glu264=) | |
19 | g.44909010G>T | CA308885963 | APOE | c.714G>T (p.Glu238Asp) c.792G>T (p.Glu264Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909011A>C | CA406304828 | APOE | c.715A>C (p.Met239Leu) c.793A>C (p.Met265Leu) | |
19 | g.44909011A>G | CA406304829 | APOE | c.715A>G (p.Met239Val) c.793A>G (p.Met265Val) | gnomAD v4 |
19 | g.44909011A>T | CA406304830 | APOE | c.715A>T (p.Met239Leu) c.793A>T (p.Met265Leu) | |
19 | g.44909012T>A | CA406304831 | APOE | c.716T>A (p.Met239Lys) c.794T>A (p.Met265Lys) | |
19 | g.44909012T>C | CA406304832 | APOE | c.716T>C (p.Met239Thr) c.794T>C (p.Met265Thr) | gnomAD v4 |
19 | g.44909012T>G | CA406304833 | APOE | c.716T>G (p.Met239Arg) c.794T>G (p.Met265Arg) | |
19 | g.44909013G>A | CA9506088 | APOE | c.717G>A (p.Met239Ile) c.795G>A (p.Met265Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44909013G>C | CA406304836 | APOE | c.717G>C (p.Met239Ile) c.795G>C (p.Met265Ile) | |
19 | g.44909013G= | CA2338168014 | APOE | c.717G= (p.Met239=) c.795G= (p.Met265=) | |
19 | g.44909013G>T | CA406304837 | APOE | c.717G>T (p.Met239Ile) c.795G>T (p.Met265Ile) | gnomAD v4 |
19 | g.44909014G>A | CA406304840 | APOE | c.718G>A (p.Gly240Ser) c.796G>A (p.Gly266Ser) |