Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21002781T>A | CA345970795 | APOB | c.12641A>T (p.Glu4214Val) c.5870-3508A>T (n.5870-3508A>T) | |
2 | g.21002781T>C | CA345970794 | APOB | c.12641A>G (p.Glu4214Gly) c.5870-3508A>G (n.5870-3508A>G) | |
2 | g.21002781T>G | CA345970793 | APOB | c.12641A>C (p.Glu4214Ala) c.5870-3508A>C (n.5870-3508A>C) | |
2 | g.21002782C>A | CA345970796 | APOB | c.12640G>T (p.Glu4214Ter) c.5870-3509G>T (n.5870-3509G>T) | |
2 | g.21002782C= | CA2493473142 | APOB | c.12640G= (p.Glu4214=) c.5870-3509G= (n.5870-3509G=) | |
2 | g.21002782C>G | CA345970797 | APOB | c.12640G>C (p.Glu4214Gln) c.5870-3509G>C (n.5870-3509G>C) | |
2 | g.21002782C>T | CA050765 | APOB | c.12640G>A (p.Glu4214Lys) c.5870-3509G>A (n.5870-3509G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002783C>A | CA345970798 | APOB | c.12639G>T (p.Arg4213Ser) c.5870-3510G>T (n.5870-3510G>T) | |
2 | g.21002783C= | CA2493473143 | APOB | c.12639G= (p.Arg4213=) c.5870-3510G= (n.5870-3510G=) | |
2 | g.21002783C>G | CA345970799 | APOB | c.12639G>C (p.Arg4213Ser) c.5870-3510G>C (n.5870-3510G>C) | |
2 | g.21002783C>T | CA050748 | APOB | c.12639G>A (p.Arg4213=) c.5870-3510G>A (n.5870-3510G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002784C>A | CA345970800 | APOB | c.12638G>T (p.Arg4213Met) c.5870-3511G>T (n.5870-3511G>T) | |
2 | g.21002784C>G | CA345970802 | APOB | c.12638G>C (p.Arg4213Thr) c.5870-3511G>C (n.5870-3511G>C) | |
2 | g.21002784C>T | CA345970801 | APOB | c.12638G>A (p.Arg4213Lys) c.5870-3511G>A (n.5870-3511G>A) | |
2 | g.21002785T>A | CA345970803 | APOB | c.12637A>T (p.Arg4213Trp) c.5870-3512A>T (n.5870-3512A>T) | |
2 | g.21002785T>C | CA345970804 | APOB | c.12637A>G (p.Arg4213Gly) c.5870-3512A>G (n.5870-3512A>G) | |
2 | g.21002785T>G | CA425342647 | APOB | c.12637A>C (p.Arg4213=) c.5870-3512A>C (n.5870-3512A>C) | |
2 | g.21002786A= | CA2493473144 | APOB | c.12636T= (p.Thr4212=) c.5870-3513T= (n.5870-3513T=) | |
2 | g.21002786A>C | CA425342648 | APOB | c.12636T>G (p.Thr4212=) c.5870-3513T>G (n.5870-3513T>G) | |
2 | g.21002786A>G | CA050740 | APOB | c.12636T>C (p.Thr4212=) c.5870-3513T>C (n.5870-3513T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002786A>T | CA425342649 | APOB | c.12636T>A (p.Thr4212=) c.5870-3513T>A (n.5870-3513T>A) | |
2 | g.21002787G>A | CA345970805 | APOB | c.12635C>T (p.Thr4212Ile) c.5870-3514C>T (n.5870-3514C>T) | |
2 | g.21002787G>C | CA050732 | APOB | c.12635C>G (p.Thr4212Ser) c.5870-3514C>G (n.5870-3514C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002787G= | CA2493473145 | APOB | c.12635C= (p.Thr4212=) c.5870-3514C= (n.5870-3514C=) | |
2 | g.21002787G>T | CA345970806 | APOB | c.12635C>A (p.Thr4212Asn) c.5870-3514C>A (n.5870-3514C>A) | |
2 | g.21002788T>A | CA345970807 | APOB | c.12634A>T (p.Thr4212Ser) c.5870-3515A>T (n.5870-3515A>T) | |
2 | g.21002788T>C | CA345970808 | APOB | c.12634A>G (p.Thr4212Ala) c.5870-3515A>G (n.5870-3515A>G) | |
2 | g.21002788T>G | CA345970809 | APOB | c.12634A>C (p.Thr4212Pro) c.5870-3515A>C (n.5870-3515A>C) | |
2 | g.21002789G>A | CA425342650 | APOB | c.12633C>T (p.Tyr4211=) c.5870-3516C>T (n.5870-3516C>T) | gnomAD v4 |
2 | g.21002789G>C | CA345970810 | APOB | c.12633C>G (p.Tyr4211Ter) c.5870-3516C>G (n.5870-3516C>G) | |
2 | g.21002789G>T | CA345970811 | APOB | c.12633C>A (p.Tyr4211Ter) c.5870-3516C>A (n.5870-3516C>A) | |
2 | g.21002790T>A | CA345970812 | APOB | c.12632A>T (p.Tyr4211Phe) c.5870-3517A>T (n.5870-3517A>T) | |
2 | g.21002790T>C | CA345970814 | APOB | c.12632A>G (p.Tyr4211Cys) c.5870-3517A>G (n.5870-3517A>G) | |
2 | g.21002790T>G | CA345970813 | APOB | c.12632A>C (p.Tyr4211Ser) c.5870-3517A>C (n.5870-3517A>C) | |
2 | g.21002791A>C | CA345970815 | APOB | c.12631T>G (p.Tyr4211Asp) c.5870-3518T>G (n.5870-3518T>G) | |
2 | g.21002791A>G | CA345970817 | APOB | c.12631T>C (p.Tyr4211His) c.5870-3518T>C (n.5870-3518T>C) | |
2 | g.21002791A>T | CA345970816 | APOB | c.12631T>A (p.Tyr4211Asn) c.5870-3518T>A (n.5870-3518T>A) | |
2 | g.21002792T>A | CA425342652 | APOB | c.12630A>T (p.Ile4210=) c.5870-3519A>T (n.5870-3519A>T) | |
2 | g.21002792T>C | CA345970818 | APOB | c.12630A>G (p.Ile4210Met) c.5870-3519A>G (n.5870-3519A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002792T>G | CA425342651 | APOB | c.12630A>C (p.Ile4210=) c.5870-3519A>C (n.5870-3519A>C) | |
2 | g.21002792T= | CA2493473146 | APOB | c.12630A= (p.Ile4210=) c.5870-3519A= (n.5870-3519A=) | |
2 | g.21002793A>C | CA345970819 | APOB | c.12629T>G (p.Ile4210Arg) c.5870-3520T>G (n.5870-3520T>G) | |
2 | g.21002793A>G | CA345970820 | APOB | c.12629T>C (p.Ile4210Thr) c.5870-3520T>C (n.5870-3520T>C) | |
2 | g.21002793A>T | CA345970821 | APOB | c.12629T>A (p.Ile4210Lys) c.5870-3520T>A (n.5870-3520T>A) | |
2 | g.21002794T>A | CA345970822 | APOB | c.12628A>T (p.Ile4210Leu) c.5870-3521A>T (n.5870-3521A>T) | |
2 | g.21002794T>C | CA345970823 | APOB | c.12628A>G (p.Ile4210Val) c.5870-3521A>G (n.5870-3521A>G) | |
2 | g.21002794T>G | CA345970824 | APOB | c.12628A>C (p.Ile4210Leu) c.5870-3521A>C (n.5870-3521A>C) | |
2 | g.21002795C>A | CA425342653 | APOB | c.12627G>T (p.Gly4209=) c.5870-3522G>T (n.5870-3522G>T) | gnomAD v4 |
2 | g.21002795C= | CA2493473147 | APOB | c.12627G= (p.Gly4209=) c.5870-3522G= (n.5870-3522G=) | |
2 | g.21002795C>G | CA050725 | APOB | c.12627G>C (p.Gly4209=) c.5870-3522G>C (n.5870-3522G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |