Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21006289G>A | CA044117 | APOB | c.10579C>T (p.Arg3527Trp) c.5869+4444C>T (n.5869+4444C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21006289G>C | CA345986098 | APOB | c.10579C>G (p.Arg3527Gly) c.5869+4444C>G (n.5869+4444C>G) | |
2 | g.21006289G= | CA2493474704 | APOB | c.10579C= (p.Arg3527=) c.5869+4444C= (n.5869+4444C=) | |
2 | g.21006289G>T | CA425343447 | APOB | c.10579C>A (p.Arg3527=) c.5869+4444C>A (n.5869+4444C>A) | gnomAD v4 |
2 | g.21006290T>A | CA425343448 | APOB | c.10578A>T (p.Thr3526=) c.5869+4443A>T (n.5869+4443A>T) | |
2 | g.21006290T>C | CA425343451 | APOB | c.10578A>G (p.Thr3526=) c.5869+4443A>G (n.5869+4443A>G) | |
2 | g.21006290T>G | CA425343450 | APOB | c.10578A>C (p.Thr3526=) c.5869+4443A>C (n.5869+4443A>C) | |
2 | g.21006291del | CA2740092730 | APOB | c.10577del (p.Thr3526AsnfsTer5) c.5869+4442del (n.5869+4442del) | ClinVar |
2 | g.21006291G>A | CA345986101 | APOB | c.10577C>T (p.Thr3526Ile) c.5869+4442C>T (n.5869+4442C>T) | |
2 | g.21006291G>C | CA345986102 | APOB | c.10577C>G (p.Thr3526Arg) c.5869+4442C>G (n.5869+4442C>G) | |
2 | g.21006291G>T | CA345986105 | APOB | c.10577C>A (p.Thr3526Lys) c.5869+4442C>A (n.5869+4442C>A) | |
2 | g.21006292T>A | CA345986109 | APOB | c.10576A>T (p.Thr3526Ser) c.5869+4441A>T (n.5869+4441A>T) | COSMIC |
2 | g.21006292T>C | CA044105 | APOB | c.10576A>G (p.Thr3526Ala) c.5869+4441A>G (n.5869+4441A>G) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.21006292T>G | CA345986112 | APOB | c.10576A>C (p.Thr3526Pro) c.5869+4441A>C (n.5869+4441A>C) | |
2 | g.21006292T= | CA2493474705 | APOB | c.10576A= (p.Thr3526=) c.5869+4441A= (n.5869+4441A=) | |
2 | g.21006293G>A | CA044092 | APOB | c.10575C>T (p.Ser3525=) c.5869+4440C>T (n.5869+4440C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006293G>C | CA345986116 | APOB | c.10575C>G (p.Ser3525Arg) c.5869+4440C>G (n.5869+4440C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21006293G= | CA2493474706 | APOB | c.10575C= (p.Ser3525=) c.5869+4440C= (n.5869+4440C=) | |
2 | g.21006293G>T | CA345986114 | APOB | c.10575C>A (p.Ser3525Arg) c.5869+4440C>A (n.5869+4440C>A) | |
2 | g.21006294C>A | CA345986118 | APOB | c.10574G>T (p.Ser3525Ile) c.5869+4439G>T (n.5869+4439G>T) | |
2 | g.21006294C= | CA2493474707 | APOB | c.10574G= (p.Ser3525=) c.5869+4439G= (n.5869+4439G=) | |
2 | g.21006294C>G | CA345986119 | APOB | c.10574G>C (p.Ser3525Thr) c.5869+4439G>C (n.5869+4439G>C) | |
2 | g.21006294C>T | CA345986121 | APOB | c.10574G>A (p.Ser3525Asn) c.5869+4439G>A (n.5869+4439G>A) | dbSNP COSMIC |
2 | g.21006295T>A | CA43495444 | APOB | c.10573A>T (p.Ser3525Cys) c.5869+4438A>T (n.5869+4438A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21006295T>C | CA345986123 | APOB | c.10573A>G (p.Ser3525Gly) c.5869+4438A>G (n.5869+4438A>G) | |
2 | g.21006295T>G | CA345986125 | APOB | c.10573A>C (p.Ser3525Arg) c.5869+4438A>C (n.5869+4438A>C) | |
2 | g.21006295T= | CA2493474708 | APOB | c.10573A= (p.Ser3525=) c.5869+4438A= (n.5869+4438A=) | |
2 | g.21006296C>A | CA345986129 | APOB | c.10572G>T (p.Lys3524Asn) c.5869+4437G>T (n.5869+4437G>T) | |
2 | g.21006296C>G | CA345986127 | APOB | c.10572G>C (p.Lys3524Asn) c.5869+4437G>C (n.5869+4437G>C) | |
2 | g.21006296C>T | CA425343454 | APOB | c.10572G>A (p.Lys3524=) c.5869+4437G>A (n.5869+4437G>A) | |
2 | g.21006297T>A | CA345986132 | APOB | c.10571A>T (p.Lys3524Met) c.5869+4436A>T (n.5869+4436A>T) | |
2 | g.21006297T>C | CA345986134 | APOB | c.10571A>G (p.Lys3524Arg) c.5869+4436A>G (n.5869+4436A>G) | gnomAD v4 |
2 | g.21006297T>G | CA044078 | APOB | c.10571A>C (p.Lys3524Thr) c.5869+4436A>C (n.5869+4436A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21006297T= | CA2493474709 | APOB | c.10571A= (p.Lys3524=) c.5869+4436A= (n.5869+4436A=) | |
2 | g.21006298T>A | CA345986138 | APOB | c.10570A>T (p.Lys3524Ter) c.5869+4435A>T (n.5869+4435A>T) | |
2 | g.21006298T>C | CA345986139 | APOB | c.10570A>G (p.Lys3524Glu) c.5869+4435A>G (n.5869+4435A>G) | dbSNP |
2 | g.21006298T>G | CA345986141 | APOB | c.10570A>C (p.Lys3524Gln) c.5869+4435A>C (n.5869+4435A>C) | |
2 | g.21006298T= | CA2493474710 | APOB | c.10570A= (p.Lys3524=) c.5869+4435A= (n.5869+4435A=) | |
2 | g.21006299G>A | CA425343460 | APOB | c.10569C>T (p.Ser3523=) c.5869+4434C>T (n.5869+4434C>T) | |
2 | g.21006299G>C | CA425343461 | APOB | c.10569C>G (p.Ser3523=) c.5869+4434C>G (n.5869+4434C>G) | COSMIC |
2 | g.21006299G>T | CA425343462 | APOB | c.10569C>A (p.Ser3523=) c.5869+4434C>A (n.5869+4434C>A) | |
2 | g.21006300G>A | CA345986148 | APOB | c.10568C>T (p.Ser3523Phe) c.5869+4433C>T (n.5869+4433C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21006300G>C | CA345986143 | APOB | c.10568C>G (p.Ser3523Cys) c.5869+4433C>G (n.5869+4433C>G) | |
2 | g.21006300G= | CA2493474711 | APOB | c.10568C= (p.Ser3523=) c.5869+4433C= (n.5869+4433C=) | |
2 | g.21006300G>T | CA345986146 | APOB | c.10568C>A (p.Ser3523Tyr) c.5869+4433C>A (n.5869+4433C>A) | gnomAD v4 |
2 | g.21006301A>C | CA345986150 | APOB | c.10567T>G (p.Ser3523Ala) c.5869+4432T>G (n.5869+4432T>G) | |
2 | g.21006301A>G | CA345986152 | APOB | c.10567T>C (p.Ser3523Pro) c.5869+4432T>C (n.5869+4432T>C) | |
2 | g.21006301A>T | CA345986154 | APOB | c.10567T>A (p.Ser3523Thr) c.5869+4432T>A (n.5869+4432T>A) | |
2 | g.21006302A>C | CA345986156 | APOB | c.10566T>G (p.Asn3522Lys) c.5869+4431T>G (n.5869+4431T>G) | |
2 | g.21006302A>G | CA425343464 | APOB | c.10566T>C (p.Asn3522=) c.5869+4431T>C (n.5869+4431T>C) | gnomAD v4 |