Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010615G>A | CA022883 | APOB | c.6253C>T (p.Arg2085Ter) c.5869+118C>T (n.5869+118C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010615G>C | CA346002160 | APOB | c.6253C>G (p.Arg2085Gly) c.5869+118C>G (n.5869+118C>G) | |
2 | g.21010615G= | CA2493476779 | APOB | c.6253C= (p.Arg2085=) c.5869+118C= (n.5869+118C=) | |
2 | g.21010615G>T | CA425345824 | APOB | c.6253C>A (p.Arg2085=) c.5869+118C>A (n.5869+118C>A) | gnomAD v4 |
2 | g.21010616A= | CA2493476780 | APOB | c.6252T= (p.Asn2084=) c.5869+117T= (n.5869+117T=) | |
2 | g.21010616A>C | CA346002161 | APOB | c.6252T>G (p.Asn2084Lys) c.5869+117T>G (n.5869+117T>G) | |
2 | g.21010616A>G | CA425345825 | APOB | c.6252T>C (p.Asn2084=) c.5869+117T>C (n.5869+117T>C) | ClinVar |
2 | g.21010616A>T | CA346002162 | APOB | c.6252T>A (p.Asn2084Lys) c.5869+117T>A (n.5869+117T>A) | dbSNP gnomAD v4 |
2 | g.21010617T>A | CA346002163 | APOB | c.6251A>T (p.Asn2084Ile) c.5869+116A>T (n.5869+116A>T) | |
2 | g.21010617T>C | CA346002164 | APOB | c.6251A>G (p.Asn2084Ser) c.5869+116A>G (n.5869+116A>G) | |
2 | g.21010617T>G | CA346002165 | APOB | c.6251A>C (p.Asn2084Thr) c.5869+116A>C (n.5869+116A>C) | |
2 | g.21010618T>A | CA346002166 | APOB | c.6250A>T (p.Asn2084Tyr) c.5869+115A>T (n.5869+115A>T) | |
2 | g.21010618T>C | CA346002167 | APOB | c.6250A>G (p.Asn2084Asp) c.5869+115A>G (n.5869+115A>G) | |
2 | g.21010618T>G | CA346002168 | APOB | c.6250A>C (p.Asn2084His) c.5869+115A>C (n.5869+115A>C) | |
2 | g.21010619C>A | CA346002169 | APOB | c.6249G>T (p.Arg2083Ser) c.5869+114G>T (n.5869+114G>T) | |
2 | g.21010619C>G | CA346002170 | APOB | c.6249G>C (p.Arg2083Ser) c.5869+114G>C (n.5869+114G>C) | |
2 | g.21010619C>T | CA425345828 | APOB | c.6249G>A (p.Arg2083=) c.5869+114G>A (n.5869+114G>A) | ClinVar gnomAD v4 COSMIC |
2 | g.21010620C>A | CA346002171 | APOB | c.6248G>T (p.Arg2083Met) c.5869+113G>T (n.5869+113G>T) | |
2 | g.21010620C>G | CA346002173 | APOB | c.6248G>C (p.Arg2083Thr) c.5869+113G>C (n.5869+113G>C) | |
2 | g.21010620C>T | CA346002172 | APOB | c.6248G>A (p.Arg2083Lys) c.5869+113G>A (n.5869+113G>A) | |
2 | g.21010621T>A | CA346002174 | APOB | c.6247A>T (p.Arg2083Trp) c.5869+112A>T (n.5869+112A>T) | |
2 | g.21010621T>C | CA346002175 | APOB | c.6247A>G (p.Arg2083Gly) c.5869+112A>G (n.5869+112A>G) | |
2 | g.21010621T>G | CA425345830 | APOB | c.6247A>C (p.Arg2083=) c.5869+112A>C (n.5869+112A>C) | |
2 | g.21010622C>A | CA346002176 | APOB | c.6246G>T (p.Glu2082Asp) c.5869+111G>T (n.5869+111G>T) | |
2 | g.21010622C= | CA2493476781 | APOB | c.6246G= (p.Glu2082=) c.5869+111G= (n.5869+111G=) | |
2 | g.21010622C>G | CA346002177 | APOB | c.6246G>C (p.Glu2082Asp) c.5869+111G>C (n.5869+111G>C) | |
2 | g.21010622C>T | CA425345832 | APOB | c.6246G>A (p.Glu2082=) c.5869+111G>A (n.5869+111G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010623T>A | CA346002178 | APOB | c.6245A>T (p.Glu2082Val) c.5869+110A>T (n.5869+110A>T) | |
2 | g.21010623T>C | CA346002179 | APOB | c.6245A>G (p.Glu2082Gly) c.5869+110A>G (n.5869+110A>G) | |
2 | g.21010623T>G | CA346002180 | APOB | c.6245A>C (p.Glu2082Ala) c.5869+110A>C (n.5869+110A>C) | |
2 | g.21010624C>A | CA346002181 | APOB | c.6244G>T (p.Glu2082Ter) c.5869+109G>T (n.5869+109G>T) | |
2 | g.21010624C= | CA2493476782 | APOB | c.6244G= (p.Glu2082=) c.5869+109G= (n.5869+109G=) | |
2 | g.21010624C>G | CA346002182 | APOB | c.6244G>C (p.Glu2082Gln) c.5869+109G>C (n.5869+109G>C) | |
2 | g.21010624C>T | CA346002183 | APOB | c.6244G>A (p.Glu2082Lys) c.5869+109G>A (n.5869+109G>A) | dbSNP COSMIC |
2 | g.21010625A>C | CA346002184 | APOB | c.6243T>G (p.Phe2081Leu) c.5869+108T>G (n.5869+108T>G) | |
2 | g.21010625A>G | CA425345836 | APOB | c.6243T>C (p.Phe2081=) c.5869+108T>C (n.5869+108T>C) | |
2 | g.21010625A>T | CA346002185 | APOB | c.6243T>A (p.Phe2081Leu) c.5869+108T>A (n.5869+108T>A) | gnomAD v4 |
2 | g.21010626A>C | CA346002186 | APOB | c.6242T>G (p.Phe2081Cys) c.5869+107T>G (n.5869+107T>G) | |
2 | g.21010626A>G | CA346002187 | APOB | c.6242T>C (p.Phe2081Ser) c.5869+107T>C (n.5869+107T>C) | |
2 | g.21010626A>T | CA346002188 | APOB | c.6242T>A (p.Phe2081Tyr) c.5869+107T>A (n.5869+107T>A) | |
2 | g.21010627A>C | CA346002189 | APOB | c.6241T>G (p.Phe2081Val) c.5869+106T>G (n.5869+106T>G) | |
2 | g.21010627A>G | CA346002191 | APOB | c.6241T>C (p.Phe2081Leu) c.5869+106T>C (n.5869+106T>C) | |
2 | g.21010627A>T | CA346002190 | APOB | c.6241T>A (p.Phe2081Ile) c.5869+106T>A (n.5869+106T>A) | |
2 | g.21010628A= | CA2493476783 | APOB | c.6240T= (p.Tyr2080=) c.5869+105T= (n.5869+105T=) | |
2 | g.21010628A>C | CA346002192 | APOB | c.6240T>G (p.Tyr2080Ter) c.5869+105T>G (n.5869+105T>G) | |
2 | g.21010628A>G | CA425345839 | APOB | c.6240T>C (p.Tyr2080=) c.5869+105T>C (n.5869+105T>C) | |
2 | g.21010628A>T | CA063018 | APOB | c.6240T>A (p.Tyr2080Ter) c.5869+105T>A (n.5869+105T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010629T>A | CA346002193 | APOB | c.6239A>T (p.Tyr2080Phe) c.5869+104A>T (n.5869+104A>T) | |
2 | g.21010629T>C | CA346002194 | APOB | c.6239A>G (p.Tyr2080Cys) c.5869+104A>G (n.5869+104A>G) | |
2 | g.21010629T>G | CA346002195 | APOB | c.6239A>C (p.Tyr2080Ser) c.5869+104A>C (n.5869+104A>C) |