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.44908545C>A | CA406303638 | APOE | c.249C>A (p.Asp83Glu) c.327C>A (p.Asp109Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908545C= | CA2338167834 | APOE | c.249C= (p.Asp83=) c.327C= (p.Asp109=) | |
19 | g.44908545C>G | CA406303639 | APOE | c.249C>G (p.Asp83Glu) c.327C>G (p.Asp109Glu) | gnomAD v4 |
19 | g.44908545C>T | CA9506027 | APOE | c.249C>T (p.Asp83=) c.327C>T (p.Asp109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908546del | CA2585715431 | APOE | c.250del (p.Glu84ArgfsTer3) c.328del (p.Glu110ArgfsTer3) | gnomAD v4 |
19 | g.44908546G>A | CA308885238 | APOE | c.250G>A (p.Glu84Lys) c.328G>A (p.Glu110Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908546G>C | CA406303640 | APOE | c.250G>C (p.Glu84Gln) c.328G>C (p.Glu110Gln) | |
19 | g.44908546G= | CA2338167835 | APOE | c.250G= (p.Glu84=) c.328G= (p.Glu110=) | |
19 | g.44908546G>T | CA406303641 | APOE | c.250G>T (p.Glu84Ter) c.328G>T (p.Glu110Ter) | gnomAD v4 |
19 | g.44908547A>C | CA406303642 | APOE | c.251A>C (p.Glu84Ala) c.329A>C (p.Glu110Ala) | |
19 | g.44908547A>G | CA406303644 | APOE | c.251A>G (p.Glu84Gly) c.329A>G (p.Glu110Gly) | |
19 | g.44908547A>T | CA406303643 | APOE | c.251A>T (p.Glu84Val) c.329A>T (p.Glu110Val) | |
19 | g.44908548G>A | CA507947219 | APOE | c.252G>A (p.Glu84=) c.330G>A (p.Glu110=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908548G>C | CA406303645 | APOE | c.252G>C (p.Glu84Asp) c.330G>C (p.Glu110Asp) | |
19 | g.44908548G= | CA2338167836 | APOE | c.252G= (p.Glu84=) c.330G= (p.Glu110=) | |
19 | g.44908548G>T | CA406303646 | APOE | c.252G>T (p.Glu84Asp) c.330G>T (p.Glu110Asp) | |
19 | g.44908549A>C | CA406303647 | APOE | c.253A>C (p.Thr85Pro) c.331A>C (p.Thr111Pro) | |
19 | g.44908549A>G | CA406303648 | APOE | c.253A>G (p.Thr85Ala) c.331A>G (p.Thr111Ala) | |
19 | g.44908549A>T | CA406303649 | APOE | c.253A>T (p.Thr85Ser) c.331A>T (p.Thr111Ser) | |
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=) |