Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908546_44908550dup | CA2338167833 | APOE | c.250_254dup (p.Met86ArgfsTer3) c.328_332dup (p.Met112ArgfsTer3) | dbSNP |
19 | g.44908550C>A | CA406303650 | APOE | c.254C>A (p.Thr85Asn) c.332C>A (p.Thr111Asn) | gnomAD v4 |
19 | g.44908550C>G | CA406303652 | APOE | c.254C>G (p.Thr85Ser) c.332C>G (p.Thr111Ser) | |
19 | g.44908550C>T | CA406303651 | APOE | c.254C>T (p.Thr85Ile) c.332C>T (p.Thr111Ile) | |
19 | g.44908551C>A | CA507947224 | APOE | c.255C>A (p.Thr85=) c.333C>A (p.Thr111=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908551C= | CA2338167837 | APOE | c.255C= (p.Thr85=) c.333C= (p.Thr111=) | |
19 | g.44908551C>G | CA507947223 | APOE | c.255C>G (p.Thr85=) c.333C>G (p.Thr111=) | |
19 | g.44908551C>T | CA507947222 | APOE | c.255C>T (p.Thr85=) c.333C>T (p.Thr111=) | |
19 | g.44908552A= | CA2338167838 | APOE | c.256A= (p.Met86=) c.334A= (p.Met112=) | |
19 | g.44908552A>C | CA406303653 | APOE | c.256A>C (p.Met86Leu) c.334A>C (p.Met112Leu) | gnomAD v4 |
19 | g.44908552A>G | CA406303654 | APOE | c.256A>G (p.Met86Val) c.334A>G (p.Met112Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908552A>T | CA406303655 | APOE | c.256A>T (p.Met86Leu) c.334A>T (p.Met112Leu) | gnomAD v4 |
19 | g.44908553T>A | CA406303656 | APOE | c.257T>A (p.Met86Lys) c.335T>A (p.Met112Lys) | |
19 | g.44908553T>C | CA406303657 | APOE | c.257T>C (p.Met86Thr) c.335T>C (p.Met112Thr) | |
19 | g.44908553T>G | CA406303658 | APOE | c.257T>G (p.Met86Arg) c.335T>G (p.Met112Arg) | |
19 | g.44908554G>A | CA406303659 | APOE | c.258G>A (p.Met86Ile) c.336G>A (p.Met112Ile) | dbSNP |
19 | g.44908554G>C | CA406303660 | APOE | c.258G>C (p.Met86Ile) c.336G>C (p.Met112Ile) | |
19 | g.44908554G= | CA2338167839 | APOE | c.258G= (p.Met86=) c.336G= (p.Met112=) | |
19 | g.44908554G>T | CA406303661 | APOE | c.258G>T (p.Met86Ile) c.336G>T (p.Met112Ile) | |
19 | g.44908555A>C | CA406303662 | APOE | c.259A>C (p.Lys87Gln) c.337A>C (p.Lys113Gln) | |
19 | g.44908555A>G | CA406303663 | APOE | c.259A>G (p.Lys87Glu) c.337A>G (p.Lys113Glu) | |
19 | g.44908555A>T | CA406303664 | APOE | c.259A>T (p.Lys87Ter) c.337A>T (p.Lys113Ter) | |
19 | g.44908556A>C | CA406303665 | APOE | c.260A>C (p.Lys87Thr) c.338A>C (p.Lys113Thr) | |
19 | g.44908556A>G | CA406303667 | APOE | c.260A>G (p.Lys87Arg) c.338A>G (p.Lys113Arg) | |
19 | g.44908556A>T | CA406303666 | APOE | c.260A>T (p.Lys87Met) c.338A>T (p.Lys113Met) | |
19 | g.44908557G>A | CA507947234 | APOE | c.261G>A (p.Lys87=) c.339G>A (p.Lys113=) | |
19 | g.44908557G>C | CA406303668 | APOE | c.261G>C (p.Lys87Asn) c.339G>C (p.Lys113Asn) | |
19 | g.44908557G>T | CA406303669 | APOE | c.261G>T (p.Lys87Asn) c.339G>T (p.Lys113Asn) | |
19 | g.44908558G>A | CA406303670 | APOE | c.262G>A (p.Glu88Lys) c.340G>A (p.Glu114Lys) | dbSNP gnomAD v4 |
19 | g.44908558G>C | CA406303671 | APOE | c.262G>C (p.Glu88Gln) c.340G>C (p.Glu114Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908558G= | CA2338167840 | APOE | c.262G= (p.Glu88=) c.340G= (p.Glu114=) | |
19 | g.44908558G>T | CA406303672 | APOE | c.262G>T (p.Glu88Ter) c.340G>T (p.Glu114Ter) | |
19 | g.44908559A= | CA2338167841 | APOE | c.263A= (p.Glu88=) c.341A= (p.Glu114=) | |
19 | g.44908559A>C | CA406303673 | APOE | c.263A>C (p.Glu88Ala) c.341A>C (p.Glu114Ala) | |
19 | g.44908559A>G | CA406303674 | APOE | c.263A>G (p.Glu88Gly) c.341A>G (p.Glu114Gly) | |
19 | g.44908559A>T | CA406303675 | APOE | c.263A>T (p.Glu88Val) c.341A>T (p.Glu114Val) | dbSNP gnomAD v4 |
19 | g.44908560G>A | CA507947240 | APOE | c.264G>A (p.Glu88=) c.342G>A (p.Glu114=) | gnomAD v4 |
19 | g.44908560G>C | CA406303676 | APOE | c.264G>C (p.Glu88Asp) c.342G>C (p.Glu114Asp) | |
19 | g.44908560G>T | CA406303677 | APOE | c.264G>T (p.Glu88Asp) c.342G>T (p.Glu114Asp) | |
19 | g.44908561T>A | CA406303678 | APOE | c.265T>A (p.Leu89Met) c.343T>A (p.Leu115Met) | |
19 | g.44908561T>C | CA507947241 | APOE | c.265T>C (p.Leu89=) c.343T>C (p.Leu115=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908561T>G | CA406303679 | APOE | c.265T>G (p.Leu89Val) c.343T>G (p.Leu115Val) | |
19 | g.44908561T= | CA2338167842 | APOE | c.265T= (p.Leu89=) c.343T= (p.Leu115=) | |
19 | g.44908562T>A | CA406303681 | APOE | c.266T>A (p.Leu89Ter) c.344T>A (p.Leu115Ter) | |
19 | g.44908562T>C | CA9506028 | APOE | c.266T>C (p.Leu89Ser) c.344T>C (p.Leu115Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908562T>G | CA406303680 | APOE | c.266T>G (p.Leu89Trp) c.344T>G (p.Leu115Trp) | |
19 | g.44908562T= | CA2338167843 | APOE | c.266T= (p.Leu89=) c.344T= (p.Leu115=) | |
19 | g.44908563G>A | CA507947245 | APOE | c.267G>A (p.Leu89=) c.345G>A (p.Leu115=) | |
19 | g.44908563G>C | CA406303682 | APOE | c.267G>C (p.Leu89Phe) c.345G>C (p.Leu115Phe) | |
19 | g.44908563G>T | CA406303683 | APOE | c.267G>T (p.Leu89Phe) c.345G>T (p.Leu115Phe) |