Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44907743G>A | CA9505964 | APOE | c.44-17G>A (n.44-17G>A) c.122-17G>A (n.122-17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907743G= | CA2338167315 | APOE | c.44-17G= (n.44-17G=) c.122-17G= (n.122-17G=) | |
19 | g.44907743G>T | CA2585715216 | APOE | c.44-17G>T (n.44-17G>T) c.122-17G>T (n.122-17G>T) | gnomAD v4 |
19 | g.44907749G>A | CA2585715217 | APOE | c.44-11G>A (n.44-11G>A) c.122-11G>A (n.122-11G>A) | gnomAD v4 |
19 | g.44907749G>T | CA2576811992 | APOE | c.44-11G>T (n.44-11G>T) c.122-11G>T (n.122-11G>T) | gnomAD v4 |
19 | g.44907750T>G | CA2585715218 | APOE | c.44-10T>G (n.44-10T>G) c.122-10T>G (n.122-10T>G) | gnomAD v4 |
19 | g.44907752C>A | CA2585715219 | APOE | c.44-8C>A (n.44-8C>A) c.122-8C>A (n.122-8C>A) | gnomAD v4 |
19 | g.44907753C= | CA2338167316 | APOE | c.44-7C= (n.44-7C=) c.122-7C= (n.122-7C=) | |
19 | g.44907753C>T | CA9505965 | APOE | c.44-7C>T (n.44-7C>T) c.122-7C>T (n.122-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907754del | CA2585715220 | APOE | c.44-6del (n.44-6del) c.122-6del (n.122-6del) | gnomAD v4 |
19 | g.44907755C= | CA2338167317 | APOE | c.44-5C= (n.44-5C=) c.122-5C= (n.122-5C=) | |
19 | g.44907755C>T | CA996247106 | APOE | c.44-5C>T (n.44-5C>T) c.122-5C>T (n.122-5C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907756A>G | CA2585715221 | APOE | c.44-4A>G (n.44-4A>G) c.122-4A>G (n.122-4A>G) | gnomAD v4 |
19 | g.44907758A>C | CA406302353 | APOE | c.44-2A>C (n.44-2A>C) c.122-2A>C (n.122-2A>C) | |
19 | g.44907758A>G | CA406302355 | APOE | c.44-2A>G (n.44-2A>G) c.122-2A>G (n.122-2A>G) | gnomAD v4 |
19 | g.44907758A>T | CA406302357 | APOE | c.44-2A>T (n.44-2A>T) c.122-2A>T (n.122-2A>T) | |
19 | g.44907759G>A | CA406302361 | APOE | c.44-1G>A (n.44-1G>A) c.122-1G>A (n.122-1G>A) | |
19 | g.44907759G>C | CA406302359 | APOE | c.44-1G>C (n.44-1G>C) c.122-1G>C (n.122-1G>C) | |
19 | g.44907759G>T | CA406302360 | APOE | c.44-1G>T (n.44-1G>T) c.122-1G>T (n.122-1G>T) | gnomAD v4 |
19 | g.44907760G>A | CA406302362 | APOE | c.44G>A (p.Gly15Glu) c.122G>A (p.Gly41Glu) | |
19 | g.44907760G>C | CA406302363 | APOE | c.44G>C (p.Gly15Ala) c.122G>C (p.Gly41Ala) | |
19 | g.44907760G>T | CA406302364 | APOE | c.44G>T (p.Gly15Val) c.122G>T (p.Gly41Val) | |
19 | g.44907761A>C | CA507798928 | APOE | c.45A>C (p.Gly15=) c.123A>C (p.Gly41=) | |
19 | g.44907761A>G | CA507798929 | APOE | c.45A>G (p.Gly15=) c.123A>G (p.Gly41=) | |
19 | g.44907761A>T | CA507798930 | APOE | c.45A>T (p.Gly15=) c.123A>T (p.Gly41=) | |
19 | g.44907762T>A | CA406302365 | APOE | c.46T>A (p.Cys16Ser) c.124T>A (p.Cys42Ser) | |
19 | g.44907762T>C | CA406302366 | APOE | c.46T>C (p.Cys16Arg) c.124T>C (p.Cys42Arg) | |
19 | g.44907762T>G | CA406302367 | APOE | c.46T>G (p.Cys16Gly) c.124T>G (p.Cys42Gly) | |
19 | g.44907763G>A | CA406302368 | APOE | c.47G>A (p.Cys16Tyr) c.125G>A (p.Cys42Tyr) | |
19 | g.44907763G>C | CA406302369 | APOE | c.47G>C (p.Cys16Ser) c.125G>C (p.Cys42Ser) | |
19 | g.44907763G>T | CA406302370 | APOE | c.47G>T (p.Cys16Phe) c.125G>T (p.Cys42Phe) | |
19 | g.44907764C>A | CA406302371 | APOE | c.48C>A (p.Cys16Ter) c.126C>A (p.Cys42Ter) | |
19 | g.44907764C>G | CA406302372 | APOE | c.48C>G (p.Cys16Trp) c.126C>G (p.Cys42Trp) | |
19 | g.44907764C>T | CA507798931 | APOE | c.48C>T (p.Cys16=) c.126C>T (p.Cys42=) | gnomAD v4 |
19 | g.44907765C>A | CA406302375 | APOE | c.49C>A (p.Gln17Lys) c.127C>A (p.Gln43Lys) | |
19 | g.44907765C>G | CA406302374 | APOE | c.49C>G (p.Gln17Glu) c.127C>G (p.Gln43Glu) | |
19 | g.44907765C>T | CA406302373 | APOE | c.49C>T (p.Gln17Ter) c.127C>T (p.Gln43Ter) | |
19 | g.44907766A>C | CA406302376 | APOE | c.50A>C (p.Gln17Pro) c.128A>C (p.Gln43Pro) | |
19 | g.44907766A>G | CA406302377 | APOE | c.50A>G (p.Gln17Arg) c.128A>G (p.Gln43Arg) | |
19 | g.44907766A>T | CA406302378 | APOE | c.50A>T (p.Gln17Leu) c.128A>T (p.Gln43Leu) | |
19 | g.44907767G>A | CA507798932 | APOE | c.51G>A (p.Gln17=) c.129G>A (p.Gln43=) | |
19 | g.44907767G>C | CA406302379 | APOE | c.51G>C (p.Gln17His) c.129G>C (p.Gln43His) | |
19 | g.44907767G>T | CA406302380 | APOE | c.51G>T (p.Gln17His) c.129G>T (p.Gln43His) | |
19 | g.44907768G>A | CA9505966 | APOE | c.52G>A (p.Ala18Thr) c.130G>A (p.Ala44Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907768G>C | CA9505967 | APOE | c.52G>C (p.Ala18Pro) c.130G>C (p.Ala44Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907768G= | CA2338167318 | APOE | c.52G= (p.Ala18=) c.130G= (p.Ala44=) | |
19 | g.44907768G>T | CA406302381 | APOE | c.52G>T (p.Ala18Ser) c.130G>T (p.Ala44Ser) | gnomAD v4 |
19 | g.44907769C>A | CA406302382 | APOE | c.53C>A (p.Ala18Asp) c.131C>A (p.Ala44Asp) | |
19 | g.44907769C>G | CA406302383 | APOE | c.53C>G (p.Ala18Gly) c.131C>G (p.Ala44Gly) | |
19 | g.44907769C>T | CA406302384 | APOE | c.53C>T (p.Ala18Val) c.131C>T (p.Ala44Val) |