Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21006807G>A | CA345987652 | APOB | c.10061C>T (p.Ala3354Val) c.5869+3926C>T (n.5869+3926C>T) | gnomAD v4 COSMIC |
2 | g.21006807G>C | CA042354 | APOB | c.10061C>G (p.Ala3354Gly) c.5869+3926C>G (n.5869+3926C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006807G= | CA2493474981 | APOB | c.10061C= (p.Ala3354=) c.5869+3926C= (n.5869+3926C=) | |
2 | g.21006807G>T | CA345987655 | APOB | c.10061C>A (p.Ala3354Asp) c.5869+3926C>A (n.5869+3926C>A) | |
2 | g.21006808C>A | CA345987658 | APOB | c.10060G>T (p.Ala3354Ser) c.5869+3925G>T (n.5869+3925G>T) | |
2 | g.21006808C>G | CA345987659 | APOB | c.10060G>C (p.Ala3354Pro) c.5869+3925G>C (n.5869+3925G>C) | |
2 | g.21006808C>T | CA345987661 | APOB | c.10060G>A (p.Ala3354Thr) c.5869+3925G>A (n.5869+3925G>A) | ClinVar gnomAD v4 |
2 | g.21006809A= | CA2493474982 | APOB | c.10059T= (p.Asn3353=) c.5869+3924T= (n.5869+3924T=) | |
2 | g.21006809A>C | CA345987663 | APOB | c.10059T>G (p.Asn3353Lys) c.5869+3924T>G (n.5869+3924T>G) | |
2 | g.21006809A>G | CA425343877 | APOB | c.10059T>C (p.Asn3353=) c.5869+3924T>C (n.5869+3924T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21006809A>T | CA345987665 | APOB | c.10059T>A (p.Asn3353Lys) c.5869+3924T>A (n.5869+3924T>A) | gnomAD v4 |
2 | g.21006810T>A | CA345987668 | APOB | c.10058A>T (p.Asn3353Ile) c.5869+3923A>T (n.5869+3923A>T) | |
2 | g.21006810T>C | CA345987669 | APOB | c.10058A>G (p.Asn3353Ser) c.5869+3923A>G (n.5869+3923A>G) | |
2 | g.21006810T>G | CA345987671 | APOB | c.10058A>C (p.Asn3353Thr) c.5869+3923A>C (n.5869+3923A>C) | ClinVar gnomAD v4 |
2 | g.21006811T>A | CA345987674 | APOB | c.10057A>T (p.Asn3353Tyr) c.5869+3922A>T (n.5869+3922A>T) | gnomAD v4 |
2 | g.21006811T>C | CA345987675 | APOB | c.10057A>G (p.Asn3353Asp) c.5869+3922A>G (n.5869+3922A>G) | |
2 | g.21006811T>G | CA042336 | APOB | c.10057A>C (p.Asn3353His) c.5869+3922A>C (n.5869+3922A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21006811T= | CA2493474983 | APOB | c.10057A= (p.Asn3353=) c.5869+3922A= (n.5869+3922A=) | |
2 | g.21006812G>A | CA042315 | APOB | c.10056C>T (p.Thr3352=) c.5869+3921C>T (n.5869+3921C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006812G>C | CA425343887 | APOB | c.10056C>G (p.Thr3352=) c.5869+3921C>G (n.5869+3921C>G) | gnomAD v4 |
2 | g.21006812G= | CA2493474984 | APOB | c.10056C= (p.Thr3352=) c.5869+3921C= (n.5869+3921C=) | |
2 | g.21006812G>T | CA042298 | APOB | c.10056C>A (p.Thr3352=) c.5869+3921C>A (n.5869+3921C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006813G>A | CA042281 | APOB | c.10055C>T (p.Thr3352Ile) c.5869+3920C>T (n.5869+3920C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21006813G>C | CA345987682 | APOB | c.10055C>G (p.Thr3352Ser) c.5869+3920C>G (n.5869+3920C>G) | |
2 | g.21006813G= | CA2493474985 | APOB | c.10055C= (p.Thr3352=) c.5869+3920C= (n.5869+3920C=) | |
2 | g.21006813G>T | CA345987685 | APOB | c.10055C>A (p.Thr3352Asn) c.5869+3920C>A (n.5869+3920C>A) | |
2 | g.21006814T>A | CA345987691 | APOB | c.10054A>T (p.Thr3352Ser) c.5869+3919A>T (n.5869+3919A>T) | |
2 | g.21006814T>C | CA042262 | APOB | c.10054A>G (p.Thr3352Ala) c.5869+3919A>G (n.5869+3919A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006814T>G | CA345987688 | APOB | c.10054A>C (p.Thr3352Pro) c.5869+3919A>C (n.5869+3919A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006814T= | CA2493474986 | APOB | c.10054A= (p.Thr3352=) c.5869+3919A= (n.5869+3919A=) | |
2 | g.21006815A>C | CA345987693 | APOB | c.10053T>G (p.Asn3351Lys) c.5869+3918T>G (n.5869+3918T>G) | |
2 | g.21006815A>G | CA425343889 | APOB | c.10053T>C (p.Asn3351=) c.5869+3918T>C (n.5869+3918T>C) | ClinVar |
2 | g.21006815A>T | CA345987695 | APOB | c.10053T>A (p.Asn3351Lys) c.5869+3918T>A (n.5869+3918T>A) | gnomAD v4 |
2 | g.21006816T>A | CA345987698 | APOB | c.10052A>T (p.Asn3351Ile) c.5869+3917A>T (n.5869+3917A>T) | |
2 | g.21006816T>C | CA345987700 | APOB | c.10052A>G (p.Asn3351Ser) c.5869+3917A>G (n.5869+3917A>G) | dbSNP |
2 | g.21006816T>G | CA345987702 | APOB | c.10052A>C (p.Asn3351Thr) c.5869+3917A>C (n.5869+3917A>C) | |
2 | g.21006817T>A | CA345987708 | APOB | c.10051A>T (p.Asn3351Tyr) c.5869+3916A>T (n.5869+3916A>T) | |
2 | g.21006817T>C | CA345987706 | APOB | c.10051A>G (p.Asn3351Asp) c.5869+3916A>G (n.5869+3916A>G) | |
2 | g.21006817T>G | CA345987705 | APOB | c.10051A>C (p.Asn3351His) c.5869+3916A>C (n.5869+3916A>C) | |
2 | g.21006818C>A | CA425343900 | APOB | c.10050G>T (p.Leu3350=) c.5869+3915G>T (n.5869+3915G>T) | |
2 | g.21006818C>G | CA425343901 | APOB | c.10050G>C (p.Leu3350=) c.5869+3915G>C (n.5869+3915G>C) | |
2 | g.21006818C>T | CA425343902 | APOB | c.10050G>A (p.Leu3350=) c.5869+3915G>A (n.5869+3915G>A) | |
2 | g.21006819A= | CA2493474987 | APOB | c.10049T= (p.Leu3350=) c.5869+3914T= (n.5869+3914T=) | |
2 | g.21006819A>C | CA345987711 | APOB | c.10049T>G (p.Leu3350Arg) c.5869+3914T>G (n.5869+3914T>G) | |
2 | g.21006819A>G | CA042223 | APOB | c.10049T>C (p.Leu3350Pro) c.5869+3914T>C (n.5869+3914T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21006819A>T | CA345987713 | APOB | c.10049T>A (p.Leu3350Gln) c.5869+3914T>A (n.5869+3914T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21006820G>A | CA425343907 | APOB | c.10048C>T (p.Leu3350=) c.5869+3913C>T (n.5869+3913C>T) | |
2 | g.21006820G>C | CA345987716 | APOB | c.10048C>G (p.Leu3350Val) c.5869+3913C>G (n.5869+3913C>G) | |
2 | g.21006820G>T | CA345987718 | APOB | c.10048C>A (p.Leu3350Met) c.5869+3913C>A (n.5869+3913C>A) | |
2 | g.21006821T>A | CA425343912 | APOB | c.10047A>T (p.Thr3349=) c.5869+3912A>T (n.5869+3912A>T) | gnomAD v4 |