Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010594G>A | CA425345794 | APOB | c.6274C>T (p.Leu2092=) c.5869+139C>T (n.5869+139C>T) | |
2 | g.21010594G>C | CA43505513 | APOB | c.6274C>G (p.Leu2092Val) c.5869+139C>G (n.5869+139C>G) | dbSNP |
2 | g.21010594G= | CA2493476765 | APOB | c.6274C= (p.Leu2092=) c.5869+139C= (n.5869+139C=) | |
2 | g.21010594G>T | CA346002124 | APOB | c.6274C>A (p.Leu2092Met) c.5869+139C>A (n.5869+139C>A) | |
2 | g.21010595T>A | CA425345795 | APOB | c.6273A>T (p.Val2091=) c.5869+138A>T (n.5869+138A>T) | |
2 | g.21010595T>C | CA425345798 | APOB | c.6273A>G (p.Val2091=) c.5869+138A>G (n.5869+138A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010595T>G | CA425345797 | APOB | c.6273A>C (p.Val2091=) c.5869+138A>C (n.5869+138A>C) | |
2 | g.21010595T= | CA2493476766 | APOB | c.6273A= (p.Val2091=) c.5869+138A= (n.5869+138A=) | |
2 | g.21010595_21010598delinsTACA | CA2493476767 | APOB | c.6270_6273delinsTGTA (p.Val2090=) c.5869+135_5869+138delinsTGTA (n.5869+135_5869+138delinsTGTA) | |
2 | g.21010596A= | CA2493476768 | APOB | c.6272T= (p.Val2091=) c.5869+137T= (n.5869+137T=) | |
2 | g.21010596A>C | CA346002125 | APOB | c.6272T>G (p.Val2091Gly) c.5869+137T>G (n.5869+137T>G) | |
2 | g.21010596A>G | CA43505514 | APOB | c.6272T>C (p.Val2091Ala) c.5869+137T>C (n.5869+137T>C) | dbSNP |
2 | g.21010596A>T | CA346002126 | APOB | c.6272T>A (p.Val2091Glu) c.5869+137T>A (n.5869+137T>A) | |
2 | g.21010598_21010600del | CA531312749 | APOB | c.6270_6272del (p.Val2091del) c.5869+135_5869+137del (n.5869+135_5869+137del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010597C>A | CA43505515 | APOB | c.6271G>T (p.Val2091Leu) c.5869+136G>T (n.5869+136G>T) | dbSNP gnomAD v4 |
2 | g.21010597C= | CA2493476769 | APOB | c.6271G= (p.Val2091=) c.5869+136G= (n.5869+136G=) | |
2 | g.21010597C>G | CA346002127 | APOB | c.6271G>C (p.Val2091Leu) c.5869+136G>C (n.5869+136G>C) | ClinVar |
2 | g.21010597C>T | CA346002128 | APOB | c.6271G>A (p.Val2091Ile) c.5869+136G>A (n.5869+136G>A) | |
2 | g.21010598A>C | CA425345802 | APOB | c.6270T>G (p.Val2090=) c.5869+135T>G (n.5869+135T>G) | |
2 | g.21010598A>G | CA425345803 | APOB | c.6270T>C (p.Val2090=) c.5869+135T>C (n.5869+135T>C) | |
2 | g.21010598A>T | CA425345804 | APOB | c.6270T>A (p.Val2090=) c.5869+135T>A (n.5869+135T>A) | |
2 | g.21010598_21010599insG | CA2830541106 | APOB | c.6269_6270insC (p.Val2091CysfsTer15) c.5869+134_5869+135insC (n.5869+134_5869+135insC) | |
2 | g.21010599A>C | CA346002129 | APOB | c.6269T>G (p.Val2090Gly) c.5869+134T>G (n.5869+134T>G) | |
2 | g.21010599A>G | CA346002130 | APOB | c.6269T>C (p.Val2090Ala) c.5869+134T>C (n.5869+134T>C) | |
2 | g.21010599A>T | CA346002131 | APOB | c.6269T>A (p.Val2090Asp) c.5869+134T>A (n.5869+134T>A) | gnomAD v4 |
2 | g.21010599_21010600insGAAAC | CA2830541107 | APOB | c.6268_6269insGTTTC (p.Val2090GlyfsTer12) c.5869+133_5869+134insGTTTC (n.5869+133_5869+134insGTTTC) | |
2 | g.21010600C>A | CA346002133 | APOB | c.6268G>T (p.Val2090Phe) c.5869+133G>T (n.5869+133G>T) | |
2 | g.21010600C>G | CA346002134 | APOB | c.6268G>C (p.Val2090Leu) c.5869+133G>C (n.5869+133G>C) | |
2 | g.21010600C>T | CA346002132 | APOB | c.6268G>A (p.Val2090Ile) c.5869+133G>A (n.5869+133G>A) | |
2 | g.21010601T>A | CA425345807 | APOB | c.6267A>T (p.Ile2089=) c.5869+132A>T (n.5869+132A>T) | |
2 | g.21010601T>C | CA346002135 | APOB | c.6267A>G (p.Ile2089Met) c.5869+132A>G (n.5869+132A>G) | |
2 | g.21010601T>G | CA425345808 | APOB | c.6267A>C (p.Ile2089=) c.5869+132A>C (n.5869+132A>C) | |
2 | g.21010602A= | CA2493476770 | APOB | c.6266T= (p.Ile2089=) c.5869+131T= (n.5869+131T=) | |
2 | g.21010602A>C | CA346002136 | APOB | c.6266T>G (p.Ile2089Arg) c.5869+131T>G (n.5869+131T>G) | |
2 | g.21010602A>G | CA063064 | APOB | c.6266T>C (p.Ile2089Thr) c.5869+131T>C (n.5869+131T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010602A>T | CA346002137 | APOB | c.6266T>A (p.Ile2089Lys) c.5869+131T>A (n.5869+131T>A) | |
2 | g.21010603T>A | CA346002139 | APOB | c.6265A>T (p.Ile2089Leu) c.5869+130A>T (n.5869+130A>T) | gnomAD v4 |
2 | g.21010603T>C | CA063057 | APOB | c.6265A>G (p.Ile2089Val) c.5869+130A>G (n.5869+130A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010603T>G | CA346002138 | APOB | c.6265A>C (p.Ile2089Leu) c.5869+130A>C (n.5869+130A>C) | |
2 | g.21010603T= | CA2493476771 | APOB | c.6265A= (p.Ile2089=) c.5869+130A= (n.5869+130A=) | |
2 | g.21010604A>C | CA346002140 | APOB | c.6264T>G (p.Ile2088Met) c.5869+129T>G (n.5869+129T>G) | |
2 | g.21010604A>G | CA425345810 | APOB | c.6264T>C (p.Ile2088=) c.5869+129T>C (n.5869+129T>C) | |
2 | g.21010604A>T | CA425345811 | APOB | c.6264T>A (p.Ile2088=) c.5869+129T>A (n.5869+129T>A) | |
2 | g.21010605A>C | CA346002141 | APOB | c.6263T>G (p.Ile2088Ser) c.5869+128T>G (n.5869+128T>G) | |
2 | g.21010605A>G | CA346002142 | APOB | c.6263T>C (p.Ile2088Thr) c.5869+128T>C (n.5869+128T>C) | |
2 | g.21010605A>T | CA346002143 | APOB | c.6263T>A (p.Ile2088Asn) c.5869+128T>A (n.5869+128T>A) | |
2 | g.21010606T>A | CA346002144 | APOB | c.6262A>T (p.Ile2088Phe) c.5869+127A>T (n.5869+127A>T) | |
2 | g.21010606T>C | CA346002145 | APOB | c.6262A>G (p.Ile2088Val) c.5869+127A>G (n.5869+127A>G) | gnomAD v4 |
2 | g.21010606T>G | CA346002146 | APOB | c.6262A>C (p.Ile2088Leu) c.5869+127A>C (n.5869+127A>C) | |
2 | g.21010607G>A | CA425345815 | APOB | c.6261C>T (p.Thr2087=) c.5869+126C>T (n.5869+126C>T) | |
2 | g.21010607G>C | CA425345817 | APOB | c.6261C>G (p.Thr2087=) c.5869+126C>G (n.5869+126C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010607G= | CA2493476772 | APOB | c.6261C= (p.Thr2087=) c.5869+126C= (n.5869+126C=) | |
2 | g.21010607G>T | CA063048 | APOB | c.6261C>A (p.Thr2087=) c.5869+126C>A (n.5869+126C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010608G>A | CA346002147 | APOB | c.6260C>T (p.Thr2087Ile) c.5869+125C>T (n.5869+125C>T) | |
2 | g.21010608G>C | CA063042 | APOB | c.6260C>G (p.Thr2087Ser) c.5869+125C>G (n.5869+125C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010608G= | CA2493476773 | APOB | c.6260C= (p.Thr2087=) c.5869+125C= (n.5869+125C=) | |
2 | g.21010608G>T | CA346002148 | APOB | c.6260C>A (p.Thr2087Asn) c.5869+125C>A (n.5869+125C>A) | |
2 | g.21010609T>A | CA346002149 | APOB | c.6259A>T (p.Thr2087Ser) c.5869+124A>T (n.5869+124A>T) | |
2 | g.21010609T>C | CA346002150 | APOB | c.6259A>G (p.Thr2087Ala) c.5869+124A>G (n.5869+124A>G) | |
2 | g.21010609T>G | CA346002151 | APOB | c.6259A>C (p.Thr2087Pro) c.5869+124A>C (n.5869+124A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010609T= | CA2493476774 | APOB | c.6259A= (p.Thr2087=) c.5869+124A= (n.5869+124A=) | |
2 | g.21010610T>A | CA346002152 | APOB | c.6258A>T (p.Gln2086His) c.5869+123A>T (n.5869+123A>T) | |
2 | g.21010610T>C | CA425345818 | APOB | c.6258A>G (p.Gln2086=) c.5869+123A>G (n.5869+123A>G) | |
2 | g.21010610T>G | CA063032 | APOB | c.6258A>C (p.Gln2086His) c.5869+123A>C (n.5869+123A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010610T= | CA2493476775 | APOB | c.6258A= (p.Gln2086=) c.5869+123A= (n.5869+123A=) | |
2 | g.21010611T>A | CA346002153 | APOB | c.6257A>T (p.Gln2086Leu) c.5869+122A>T (n.5869+122A>T) | |
2 | g.21010611T>C | CA346002154 | APOB | c.6257A>G (p.Gln2086Arg) c.5869+122A>G (n.5869+122A>G) | |
2 | g.21010611T>G | CA346002155 | APOB | c.6257A>C (p.Gln2086Pro) c.5869+122A>C (n.5869+122A>C) | gnomAD v4 |
2 | g.21010612G>A | CA43505530 | APOB | c.6256C>T (p.Gln2086Ter) c.5869+121C>T (n.5869+121C>T) | dbSNP |
2 | g.21010612G>C | CA346002156 | APOB | c.6256C>G (p.Gln2086Glu) c.5869+121C>G (n.5869+121C>G) | |
2 | g.21010612G= | CA2493476776 | APOB | c.6256C= (p.Gln2086=) c.5869+121C= (n.5869+121C=) | |
2 | g.21010612G>T | CA346002157 | APOB | c.6256C>A (p.Gln2086Lys) c.5869+121C>A (n.5869+121C>A) | |
2 | g.21010613T>A | CA425345820 | APOB | c.6255A>T (p.Arg2085=) c.5869+120A>T (n.5869+120A>T) | |
2 | g.21010613T>C | CA063028 | APOB | c.6255A>G (p.Arg2085=) c.5869+120A>G (n.5869+120A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010613T>G | CA425345823 | APOB | c.6255A>C (p.Arg2085=) c.5869+120A>C (n.5869+120A>C) | gnomAD v4 |
2 | g.21010613T= | CA2493476777 | APOB | c.6255A= (p.Arg2085=) c.5869+120A= (n.5869+120A=) | |
2 | g.21010614C>A | CA346002159 | APOB | c.6254G>T (p.Arg2085Leu) c.5869+119G>T (n.5869+119G>T) | |
2 | g.21010614C= | CA2493476778 | APOB | c.6254G= (p.Arg2085=) c.5869+119G= (n.5869+119G=) | |
2 | g.21010614C>G | CA346002158 | APOB | c.6254G>C (p.Arg2085Pro) c.5869+119G>C (n.5869+119G>C) | gnomAD v4 |
2 | g.21010614C>T | CA063024 | APOB | c.6254G>A (p.Arg2085Gln) c.5869+119G>A (n.5869+119G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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) | ClinVar 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) | |
2 | g.21010630A>C | CA346002196 | APOB | c.6238T>G (p.Tyr2080Asp) c.5869+103T>G (n.5869+103T>G) | |
2 | g.21010630A>G | CA346002197 | APOB | c.6238T>C (p.Tyr2080His) c.5869+103T>C (n.5869+103T>C) | |
2 | g.21010630A>T | CA346002198 | APOB | c.6238T>A (p.Tyr2080Asn) c.5869+103T>A (n.5869+103T>A) | |
2 | g.21010631T>A | CA346002199 | APOB | c.6237A>T (p.Glu2079Asp) c.5869+102A>T (n.5869+102A>T) | |
2 | g.21010631T>C | CA425345844 | APOB | c.6237A>G (p.Glu2079=) c.5869+102A>G (n.5869+102A>G) | |
2 | g.21010631T>G | CA063014 | APOB | c.6237A>C (p.Glu2079Asp) c.5869+102A>C (n.5869+102A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010631T= | CA2493476784 | APOB | c.6237A= (p.Glu2079=) c.5869+102A= (n.5869+102A=) | |
2 | g.21010632T>A | CA346002201 | APOB | c.6236A>T (p.Glu2079Val) c.5869+101A>T (n.5869+101A>T) | |
2 | g.21010632T>C | CA346002202 | APOB | c.6236A>G (p.Glu2079Gly) c.5869+101A>G (n.5869+101A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.21010632T>G | CA346002200 | APOB | c.6236A>C (p.Glu2079Ala) c.5869+101A>C (n.5869+101A>C) | |
2 | g.21010633C>A | CA346002203 | APOB | c.6235G>T (p.Glu2079Ter) c.5869+100G>T (n.5869+100G>T) | |
2 | g.21010633C>G | CA346002204 | APOB | c.6235G>C (p.Glu2079Gln) c.5869+100G>C (n.5869+100G>C) | |
2 | g.21010633C>T | CA346002205 | APOB | c.6235G>A (p.Glu2079Lys) c.5869+100G>A (n.5869+100G>A) | COSMIC |
2 | g.21010634T>A | CA346002206 | APOB | c.6234A>T (p.Gln2078His) c.5869+99A>T (n.5869+99A>T) | |
2 | g.21010634T>C | CA425345845 | APOB | c.6234A>G (p.Gln2078=) c.5869+99A>G (n.5869+99A>G) | gnomAD v4 COSMIC |
2 | g.21010634T>G | CA346002207 | APOB | c.6234A>C (p.Gln2078His) c.5869+99A>C (n.5869+99A>C) | |
2 | g.21010635T>A | CA346002209 | APOB | c.6233A>T (p.Gln2078Leu) c.5869+98A>T (n.5869+98A>T) | |
2 | g.21010635T>C | CA43505562 | APOB | c.6233A>G (p.Gln2078Arg) c.5869+98A>G (n.5869+98A>G) | dbSNP |
2 | g.21010635T>G | CA346002208 | APOB | c.6233A>C (p.Gln2078Pro) c.5869+98A>C (n.5869+98A>C) | |
2 | g.21010635T= | CA2493476785 | APOB | c.6233A= (p.Gln2078=) c.5869+98A= (n.5869+98A=) | |
2 | g.21010636G>A | CA346002210 | APOB | c.6232C>T (p.Gln2078Ter) c.5869+97C>T (n.5869+97C>T) | |
2 | g.21010636G>C | CA346002211 | APOB | c.6232C>G (p.Gln2078Glu) c.5869+97C>G (n.5869+97C>G) | |
2 | g.21010636G= | CA2493476786 | APOB | c.6232C= (p.Gln2078=) c.5869+97C= (n.5869+97C=) | |
2 | g.21010636G>T | CA346002212 | APOB | c.6232C>A (p.Gln2078Lys) c.5869+97C>A (n.5869+97C>A) | dbSNP gnomAD v4 |
2 | g.21010637C>A | CA346002213 | APOB | c.6231G>T (p.Leu2077Phe) c.5869+96G>T (n.5869+96G>T) | |
2 | g.21010637C= | CA2493476787 | APOB | c.6231G= (p.Leu2077=) c.5869+96G= (n.5869+96G=) | |
2 | g.21010637C>G | CA346002214 | APOB | c.6231G>C (p.Leu2077Phe) c.5869+96G>C (n.5869+96G>C) | |
2 | g.21010637C>T | CA063010 | APOB | c.6231G>A (p.Leu2077=) c.5869+96G>A (n.5869+96G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010638A>C | CA346002215 | APOB | c.6230T>G (p.Leu2077Trp) c.5869+95T>G (n.5869+95T>G) | |
2 | g.21010638A>G | CA346002217 | APOB | c.6230T>C (p.Leu2077Ser) c.5869+95T>C (n.5869+95T>C) | gnomAD v4 |
2 | g.21010638A>T | CA346002216 | APOB | c.6230T>A (p.Leu2077Ter) c.5869+95T>A (n.5869+95T>A) | |
2 | g.21010639A= | CA2493476788 | APOB | c.6229T= (p.Leu2077=) c.5869+94T= (n.5869+94T=) | |
2 | g.21010639A>C | CA346002218 | APOB | c.6229T>G (p.Leu2077Val) c.5869+94T>G (n.5869+94T>G) | |
2 | g.21010639A>G | CA063000 | APOB | c.6229T>C (p.Leu2077=) c.5869+94T>C (n.5869+94T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010639A>T | CA346002219 | APOB | c.6229T>A (p.Leu2077Met) c.5869+94T>A (n.5869+94T>A) | |
2 | g.21010640G>A | CA425345853 | APOB | c.6228C>T (p.Thr2076=) c.5869+93C>T (n.5869+93C>T) | |
2 | g.21010640G>C | CA425345855 | APOB | c.6228C>G (p.Thr2076=) c.5869+93C>G (n.5869+93C>G) | |
2 | g.21010640G>T | CA425345857 | APOB | c.6228C>A (p.Thr2076=) c.5869+93C>A (n.5869+93C>A) | |
2 | g.21010641G>A | CA062996 | APOB | c.6227C>T (p.Thr2076Ile) c.5869+92C>T (n.5869+92C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010641G>C | CA346002220 | APOB | c.6227C>G (p.Thr2076Ser) c.5869+92C>G (n.5869+92C>G) | |
2 | g.21010641G= | CA2493476789 | APOB | c.6227C= (p.Thr2076=) c.5869+92C= (n.5869+92C=) | |
2 | g.21010641G>T | CA346002221 | APOB | c.6227C>A (p.Thr2076Asn) c.5869+92C>A (n.5869+92C>A) | dbSNP |
2 | g.21010642T>A | CA346002222 | APOB | c.6226A>T (p.Thr2076Ser) c.5869+91A>T (n.5869+91A>T) | |
2 | g.21010642T>C | CA346002223 | APOB | c.6226A>G (p.Thr2076Ala) c.5869+91A>G (n.5869+91A>G) | COSMIC |
2 | g.21010642T>G | CA346002224 | APOB | c.6226A>C (p.Thr2076Pro) c.5869+91A>C (n.5869+91A>C) | |
2 | g.21010643C>A | CA346002225 | APOB | c.6225G>T (p.Glu2075Asp) c.5869+90G>T (n.5869+90G>T) | |
2 | g.21010643C>G | CA346002226 | APOB | c.6225G>C (p.Glu2075Asp) c.5869+90G>C (n.5869+90G>C) | |
2 | g.21010643C>T | CA425345859 | APOB | c.6225G>A (p.Glu2075=) c.5869+90G>A (n.5869+90G>A) | ClinVar |
2 | g.21010644T>A | CA346002227 | APOB | c.6224A>T (p.Glu2075Val) c.5869+89A>T (n.5869+89A>T) | COSMIC |
2 | g.21010644T>C | CA346002229 | APOB | c.6224A>G (p.Glu2075Gly) c.5869+89A>G (n.5869+89A>G) | |
2 | g.21010644T>G | CA346002228 | APOB | c.6224A>C (p.Glu2075Ala) c.5869+89A>C (n.5869+89A>C) | |
2 | g.21010645C>A | CA346002231 | APOB | c.6223G>T (p.Glu2075Ter) c.5869+88G>T (n.5869+88G>T) | |
2 | g.21010645C= | CA2493476790 | APOB | c.6223G= (p.Glu2075=) c.5869+88G= (n.5869+88G=) | |
2 | g.21010645C>G | CA346002234 | APOB | c.6223G>C (p.Glu2075Gln) c.5869+88G>C (n.5869+88G>C) | |
2 | g.21010645C>T | CA062991 | APOB | c.6223G>A (p.Glu2075Lys) c.5869+88G>A (n.5869+88G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010646A>C | CA346002239 | APOB | c.6222T>G (p.Phe2074Leu) c.5869+87T>G (n.5869+87T>G) | |
2 | g.21010646A>G | CA425345860 | APOB | c.6222T>C (p.Phe2074=) c.5869+87T>C (n.5869+87T>C) | |
2 | g.21010646A>T | CA346002237 | APOB | c.6222T>A (p.Phe2074Leu) c.5869+87T>A (n.5869+87T>A) | |
2 | g.21010651dup | CA1546536 | APOB | c.6222dup (p.Glu2075Ter) c.5869+87dup (n.5869+87dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010651del | CA2658056060 | APOB | c.6222del (p.Phe2074LeufsTer16) c.5869+87del (n.5869+87del) | gnomAD v4 |
2 | g.21010647A>C | CA346002241 | APOB | c.6221T>G (p.Phe2074Cys) c.5869+86T>G (n.5869+86T>G) | |
2 | g.21010647A>G | CA346002243 | APOB | c.6221T>C (p.Phe2074Ser) c.5869+86T>C (n.5869+86T>C) | |
2 | g.21010647A>T | CA346002245 | APOB | c.6221T>A (p.Phe2074Tyr) c.5869+86T>A (n.5869+86T>A) | |
2 | g.21010648A>C | CA346002247 | APOB | c.6220T>G (p.Phe2074Val) c.5869+85T>G (n.5869+85T>G) | |
2 | g.21010648A>G | CA346002249 | APOB | c.6220T>C (p.Phe2074Leu) c.5869+85T>C (n.5869+85T>C) | |
2 | g.21010648A>T | CA346002251 | APOB | c.6220T>A (p.Phe2074Ile) c.5869+85T>A (n.5869+85T>A) | |
2 | g.21010649A>C | CA346002255 | APOB | c.6219T>G (p.Phe2073Leu) c.5869+84T>G (n.5869+84T>G) | |
2 | g.21010649A>G | CA425345863 | APOB | c.6219T>C (p.Phe2073=) c.5869+84T>C (n.5869+84T>C) | COSMIC |
2 | g.21010649A>T | CA346002253 | APOB | c.6219T>A (p.Phe2073Leu) c.5869+84T>A (n.5869+84T>A) | |
2 | g.21010650A>C | CA346002257 | APOB | c.6218T>G (p.Phe2073Cys) c.5869+83T>G (n.5869+83T>G) | |
2 | g.21010650A>G | CA346002259 | APOB | c.6218T>C (p.Phe2073Ser) c.5869+83T>C (n.5869+83T>C) | |
2 | g.21010650A>T | CA346002260 | APOB | c.6218T>A (p.Phe2073Tyr) c.5869+83T>A (n.5869+83T>A) | |
2 | g.21010651A>C | CA346002262 | APOB | c.6217T>G (p.Phe2073Val) c.5869+82T>G (n.5869+82T>G) | |
2 | g.21010651A>G | CA346002264 | APOB | c.6217T>C (p.Phe2073Leu) c.5869+82T>C (n.5869+82T>C) | |
2 | g.21010651A>T | CA346002266 | APOB | c.6217T>A (p.Phe2073Ile) c.5869+82T>A (n.5869+82T>A) | |
2 | g.21010652T>A | CA425345867 | APOB | c.6216A>T (p.Pro2072=) c.5869+81A>T (n.5869+81A>T) | |
2 | g.21010652T>C | CA425345868 | APOB | c.6216A>G (p.Pro2072=) c.5869+81A>G (n.5869+81A>G) | dbSNP |
2 | g.21010652T>G | CA425345865 | APOB | c.6216A>C (p.Pro2072=) c.5869+81A>C (n.5869+81A>C) | |
2 | g.21010652T= | CA2493476791 | APOB | c.6216A= (p.Pro2072=) c.5869+81A= (n.5869+81A=) | |
2 | g.21010653G>A | CA346002272 | APOB | c.6215C>T (p.Pro2072Leu) c.5869+80C>T (n.5869+80C>T) | |
2 | g.21010653G>C | CA346002268 | APOB | c.6215C>G (p.Pro2072Arg) c.5869+80C>G (n.5869+80C>G) | |
2 | g.21010653G>T | CA346002270 | APOB | c.6215C>A (p.Pro2072Gln) c.5869+80C>A (n.5869+80C>A) | |
2 | g.21010654G>A | CA346002274 | APOB | c.6214C>T (p.Pro2072Ser) c.5869+79C>T (n.5869+79C>T) | |
2 | g.21010654G>C | CA346002276 | APOB | c.6214C>G (p.Pro2072Ala) c.5869+79C>G (n.5869+79C>G) | |
2 | g.21010654G>T | CA346002278 | APOB | c.6214C>A (p.Pro2072Thr) c.5869+79C>A (n.5869+79C>A) | |
2 | g.21010655G>A | CA425345872 | APOB | c.6213C>T (p.Leu2071=) c.5869+78C>T (n.5869+78C>T) | gnomAD v4 COSMIC |
2 | g.21010655G>C | CA425345871 | APOB | c.6213C>G (p.Leu2071=) c.5869+78C>G (n.5869+78C>G) | |
2 | g.21010655G>T | CA425345870 | APOB | c.6213C>A (p.Leu2071=) c.5869+78C>A (n.5869+78C>A) | |
2 | g.21010656A>C | CA346002280 | APOB | c.6212T>G (p.Leu2071Arg) c.5869+77T>G (n.5869+77T>G) | |
2 | g.21010656A>G | CA346002282 | APOB | c.6212T>C (p.Leu2071Pro) c.5869+77T>C (n.5869+77T>C) | |
2 | g.21010656A>T | CA346002284 | APOB | c.6212T>A (p.Leu2071His) c.5869+77T>A (n.5869+77T>A) | |
2 | g.21010657G>A | CA346002286 | APOB | c.6211C>T (p.Leu2071Phe) c.5869+76C>T (n.5869+76C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010657G>C | CA346002288 | APOB | c.6211C>G (p.Leu2071Val) c.5869+76C>G (n.5869+76C>G) | |
2 | g.21010657G= | CA2493476792 | APOB | c.6211C= (p.Leu2071=) c.5869+76C= (n.5869+76C=) | |
2 | g.21010657G>T | CA346002290 | APOB | c.6211C>A (p.Leu2071Ile) c.5869+76C>A (n.5869+76C>A) | gnomAD v4 |
2 | g.21010658G>A | CA062981 | APOB | c.6210C>T (p.Asn2070=) c.5869+75C>T (n.5869+75C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010658G>C | CA346002293 | APOB | c.6210C>G (p.Asn2070Lys) c.5869+75C>G (n.5869+75C>G) | |
2 | g.21010658G= | CA2493476793 | APOB | c.6210C= (p.Asn2070=) c.5869+75C= (n.5869+75C=) | |
2 | g.21010658G>T | CA346002295 | APOB | c.6210C>A (p.Asn2070Lys) c.5869+75C>A (n.5869+75C>A) | |
2 | g.21010659T>A | CA346002297 | APOB | c.6209A>T (p.Asn2070Ile) c.5869+74A>T (n.5869+74A>T) | |
2 | g.21010659T>C | CA346002300 | APOB | c.6209A>G (p.Asn2070Ser) c.5869+74A>G (n.5869+74A>G) | |
2 | g.21010659T>G | CA346002299 | APOB | c.6209A>C (p.Asn2070Thr) c.5869+74A>C (n.5869+74A>C) | |
2 | g.21010660T>A | CA346002303 | APOB | c.6208A>T (p.Asn2070Tyr) c.5869+73A>T (n.5869+73A>T) | |
2 | g.21010660T>C | CA346002305 | APOB | c.6208A>G (p.Asn2070Asp) c.5869+73A>G (n.5869+73A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010660T>G | CA346002306 | APOB | c.6208A>C (p.Asn2070His) c.5869+73A>C (n.5869+73A>C) | |
2 | g.21010660T= | CA2493476794 | APOB | c.6208A= (p.Asn2070=) c.5869+73A= (n.5869+73A=) | |
2 | g.21010661A>C | CA346002309 | APOB | c.6207T>G (p.Ile2069Met) c.5869+72T>G (n.5869+72T>G) | |
2 | g.21010661A>G | CA425345873 | APOB | c.6207T>C (p.Ile2069=) c.5869+72T>C (n.5869+72T>C) | |
2 | g.21010661A>T | CA425345874 | APOB | c.6207T>A (p.Ile2069=) c.5869+72T>A (n.5869+72T>A) | |
2 | g.21010662A>C | CA346002311 | APOB | c.6206T>G (p.Ile2069Ser) c.5869+71T>G (n.5869+71T>G) | |
2 | g.21010662A>G | CA346002313 | APOB | c.6206T>C (p.Ile2069Thr) c.5869+71T>C (n.5869+71T>C) | gnomAD v4 |
2 | g.21010662A>T | CA346002314 | APOB | c.6206T>A (p.Ile2069Asn) c.5869+71T>A (n.5869+71T>A) | |
2 | g.21010663T>A | CA346002316 | APOB | c.6205A>T (p.Ile2069Phe) c.5869+70A>T (n.5869+70A>T) | |
2 | g.21010663T>C | CA346002318 | APOB | c.6205A>G (p.Ile2069Val) c.5869+70A>G (n.5869+70A>G) | gnomAD v4 |
2 | g.21010663T>G | CA346002320 | APOB | c.6205A>C (p.Ile2069Leu) c.5869+70A>C (n.5869+70A>C) | |
2 | g.21010664G>A | CA425345877 | APOB | c.6204C>T (p.Ser2068=) c.5869+69C>T (n.5869+69C>T) | dbSNP gnomAD v4 COSMIC |
2 | g.21010664G>C | CA425345878 | APOB | c.6204C>G (p.Ser2068=) c.5869+69C>G (n.5869+69C>G) | gnomAD v4 |
2 | g.21010664G= | CA2493476795 | APOB | c.6204C= (p.Ser2068=) c.5869+69C= (n.5869+69C=) | |
2 | g.21010664G>T | CA425345879 | APOB | c.6204C>A (p.Ser2068=) c.5869+69C>A (n.5869+69C>A) | |
2 | g.21010665G>A | CA346002322 | APOB | c.6203C>T (p.Ser2068Phe) c.5869+68C>T (n.5869+68C>T) | COSMIC |
2 | g.21010665G>C | CA346002324 | APOB | c.6203C>G (p.Ser2068Cys) c.5869+68C>G (n.5869+68C>G) | |
2 | g.21010665G>T | CA346002326 | APOB | c.6203C>A (p.Ser2068Tyr) c.5869+68C>A (n.5869+68C>A) | COSMIC |
2 | g.21010666A= | CA2493476796 | APOB | c.6202T= (p.Ser2068=) c.5869+67T= (n.5869+67T=) | |
2 | g.21010666A>C | CA346002328 | APOB | c.6202T>G (p.Ser2068Ala) c.5869+67T>G (n.5869+67T>G) | dbSNP |
2 | g.21010666A>G | CA346002331 | APOB | c.6202T>C (p.Ser2068Pro) c.5869+67T>C (n.5869+67T>C) | |
2 | g.21010666A>T | CA43505602 | APOB | c.6202T>A (p.Ser2068Thr) c.5869+67T>A (n.5869+67T>A) | dbSNP |
2 | g.21010667G>A | CA062973 | APOB | c.6201C>T (p.His2067=) c.5869+66C>T (n.5869+66C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010667G>C | CA346002334 | APOB | c.6201C>G (p.His2067Gln) c.5869+66C>G (n.5869+66C>G) | |
2 | g.21010667G= | CA2493476797 | APOB | c.6201C= (p.His2067=) c.5869+66C= (n.5869+66C=) | |
2 | g.21010667G>T | CA346002336 | APOB | c.6201C>A (p.His2067Gln) c.5869+66C>A (n.5869+66C>A) | |
2 | g.21010668T>A | CA346002338 | APOB | c.6200A>T (p.His2067Leu) c.5869+65A>T (n.5869+65A>T) | |
2 | g.21010668T>C | CA346002340 | APOB | c.6200A>G (p.His2067Arg) c.5869+65A>G (n.5869+65A>G) | |
2 | g.21010668T>G | CA346002342 | APOB | c.6200A>C (p.His2067Pro) c.5869+65A>C (n.5869+65A>C) | |
2 | g.21010669G>A | CA346002343 | APOB | c.6199C>T (p.His2067Tyr) c.5869+64C>T (n.5869+64C>T) | |
2 | g.21010669G>C | CA346002345 | APOB | c.6199C>G (p.His2067Asp) c.5869+64C>G (n.5869+64C>G) | |
2 | g.21010669G>T | CA346002346 | APOB | c.6199C>A (p.His2067Asn) c.5869+64C>A (n.5869+64C>A) | COSMIC |
2 | g.21010670A>C | CA425345880 | APOB | c.6198T>G (p.Val2066=) c.5869+63T>G (n.5869+63T>G) | |
2 | g.21010670A>G | CA425345881 | APOB | c.6198T>C (p.Val2066=) c.5869+63T>C (n.5869+63T>C) | |
2 | g.21010670A>T | CA425345882 | APOB | c.6198T>A (p.Val2066=) c.5869+63T>A (n.5869+63T>A) | |
2 | g.21010671A= | CA2493476798 | APOB | c.6197T= (p.Val2066=) c.5869+62T= (n.5869+62T=) | |
2 | g.21010671A>C | CA346002353 | APOB | c.6197T>G (p.Val2066Gly) c.5869+62T>G (n.5869+62T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010671A>G | CA346002351 | APOB | c.6197T>C (p.Val2066Ala) c.5869+62T>C (n.5869+62T>C) | |
2 | g.21010671A>T | CA346002349 | APOB | c.6197T>A (p.Val2066Asp) c.5869+62T>A (n.5869+62T>A) | |
2 | g.21010672C>A | CA43505610 | APOB | c.6196G>T (p.Val2066Phe) c.5869+61G>T (n.5869+61G>T) | dbSNP |
2 | g.21010672C= | CA2493476799 | APOB | c.6196G= (p.Val2066=) c.5869+61G= (n.5869+61G=) | |
2 | g.21010672C>G | CA346002358 | APOB | c.6196G>C (p.Val2066Leu) c.5869+61G>C (n.5869+61G>C) | |
2 | g.21010672C>T | CA346002356 | APOB | c.6196G>A (p.Val2066Ile) c.5869+61G>A (n.5869+61G>A) | |
2 | g.21010673A>C | CA346002360 | APOB | c.6195T>G (p.Asp2065Glu) c.5869+60T>G (n.5869+60T>G) | |
2 | g.21010673A>G | CA425345883 | APOB | c.6195T>C (p.Asp2065=) c.5869+60T>C (n.5869+60T>C) | |
2 | g.21010673A>T | CA346002362 | APOB | c.6195T>A (p.Asp2065Glu) c.5869+60T>A (n.5869+60T>A) | |
2 | g.21010674T>A | CA346002364 | APOB | c.6194A>T (p.Asp2065Val) c.5869+59A>T (n.5869+59A>T) | gnomAD v4 |
2 | g.21010674T>C | CA062966 | APOB | c.6194A>G (p.Asp2065Gly) c.5869+59A>G (n.5869+59A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010674T>G | CA346002367 | APOB | c.6194A>C (p.Asp2065Ala) c.5869+59A>C (n.5869+59A>C) | |
2 | g.21010674T= | CA2493476800 | APOB | c.6194A= (p.Asp2065=) c.5869+59A= (n.5869+59A=) | |
2 | g.21010675C>A | CA346002369 | APOB | c.6193G>T (p.Asp2065Tyr) c.5869+58G>T (n.5869+58G>T) | gnomAD v4 |
2 | g.21010675C>G | CA346002371 | APOB | c.6193G>C (p.Asp2065His) c.5869+58G>C (n.5869+58G>C) | |
2 | g.21010675C>T | CA346002373 | APOB | c.6193G>A (p.Asp2065Asn) c.5869+58G>A (n.5869+58G>A) | |
2 | g.21010676T>A | CA346002375 | APOB | c.6192A>T (p.Gln2064His) c.5869+57A>T (n.5869+57A>T) | |
2 | g.21010676T>C | CA425345884 | APOB | c.6192A>G (p.Gln2064=) c.5869+57A>G (n.5869+57A>G) | |
2 | g.21010676T>G | CA346002377 | APOB | c.6192A>C (p.Gln2064His) c.5869+57A>C (n.5869+57A>C) | |
2 | g.21010677T>A | CA346002379 | APOB | c.6191A>T (p.Gln2064Leu) c.5869+56A>T (n.5869+56A>T) | |
2 | g.21010677T>C | CA346002381 | APOB | c.6191A>G (p.Gln2064Arg) c.5869+56A>G (n.5869+56A>G) | |
2 | g.21010677T>G | CA346002383 | APOB | c.6191A>C (p.Gln2064Pro) c.5869+56A>C (n.5869+56A>C) | dbSNP gnomAD v2 |
2 | g.21010677T= | CA2493476801 | APOB | c.6191A= (p.Gln2064=) c.5869+56A= (n.5869+56A=) | |
2 | g.21010678G>A | CA346002386 | APOB | c.6190C>T (p.Gln2064Ter) c.5869+55C>T (n.5869+55C>T) | gnomAD v4 |
2 | g.21010678G>C | CA346002390 | APOB | c.6190C>G (p.Gln2064Glu) c.5869+55C>G (n.5869+55C>G) | |
2 | g.21010678G= | CA2493476802 | APOB | c.6190C= (p.Gln2064=) c.5869+55C= (n.5869+55C=) | |
2 | g.21010678G>T | CA346002388 | APOB | c.6190C>A (p.Gln2064Lys) c.5869+55C>A (n.5869+55C>A) | dbSNP |
2 | g.21010679G>A | CA425345886 | APOB | c.6189C>T (p.Asn2063=) c.5869+54C>T (n.5869+54C>T) | gnomAD v4 |
2 | g.21010679G>C | CA346002391 | APOB | c.6189C>G (p.Asn2063Lys) c.5869+54C>G (n.5869+54C>G) | |
2 | g.21010679G>T | CA346002393 | APOB | c.6189C>A (p.Asn2063Lys) c.5869+54C>A (n.5869+54C>A) | |
2 | g.21010680T>A | CA346002395 | APOB | c.6188A>T (p.Asn2063Ile) c.5869+53A>T (n.5869+53A>T) | |
2 | g.21010680T>C | CA346002397 | APOB | c.6188A>G (p.Asn2063Ser) c.5869+53A>G (n.5869+53A>G) | |
2 | g.21010680T>G | CA346002399 | APOB | c.6188A>C (p.Asn2063Thr) c.5869+53A>C (n.5869+53A>C) | |
2 | g.21010681T>A | CA346002402 | APOB | c.6187A>T (p.Asn2063Tyr) c.5869+52A>T (n.5869+52A>T) | |
2 | g.21010681T>C | CA346002403 | APOB | c.6187A>G (p.Asn2063Asp) c.5869+52A>G (n.5869+52A>G) | |
2 | g.21010681T>G | CA346002405 | APOB | c.6187A>C (p.Asn2063His) c.5869+52A>C (n.5869+52A>C) | |
2 | g.21010682T>A | CA346002408 | APOB | c.6186A>T (p.Lys2062Asn) c.5869+51A>T (n.5869+51A>T) | |
2 | g.21010682T>C | CA425345887 | APOB | c.6186A>G (p.Lys2062=) c.5869+51A>G (n.5869+51A>G) | |
2 | g.21010682T>G | CA346002409 | APOB | c.6186A>C (p.Lys2062Asn) c.5869+51A>C (n.5869+51A>C) | |
2 | g.21010683T>A | CA346002415 | APOB | c.6185A>T (p.Lys2062Ile) c.5869+50A>T (n.5869+50A>T) | |
2 | g.21010683T>C | CA346002413 | APOB | c.6185A>G (p.Lys2062Arg) c.5869+50A>G (n.5869+50A>G) | gnomAD v4 |
2 | g.21010683T>G | CA346002412 | APOB | c.6185A>C (p.Lys2062Thr) c.5869+50A>C (n.5869+50A>C) | |
2 | g.21010684T>A | CA346002417 | APOB | c.6184A>T (p.Lys2062Ter) c.5869+49A>T (n.5869+49A>T) | |
2 | g.21010684T>C | CA346002419 | APOB | c.6184A>G (p.Lys2062Glu) c.5869+49A>G (n.5869+49A>G) | |
2 | g.21010684T>G | CA346002421 | APOB | c.6184A>C (p.Lys2062Gln) c.5869+49A>C (n.5869+49A>C) | |
2 | g.21010685A>C | CA346002423 | APOB | c.6183T>G (p.Asp2061Glu) c.5869+48T>G (n.5869+48T>G) | |
2 | g.21010685A>G | CA425345889 | APOB | c.6183T>C (p.Asp2061=) c.5869+48T>C (n.5869+48T>C) | gnomAD v4 |
2 | g.21010685A>T | CA346002425 | APOB | c.6183T>A (p.Asp2061Glu) c.5869+48T>A (n.5869+48T>A) | |
2 | g.21010686T>A | CA346002427 | APOB | c.6182A>T (p.Asp2061Val) c.5869+47A>T (n.5869+47A>T) | |
2 | g.21010686T>C | CA346002429 | APOB | c.6182A>G (p.Asp2061Gly) c.5869+47A>G (n.5869+47A>G) | |
2 | g.21010686T>G | CA346002431 | APOB | c.6182A>C (p.Asp2061Ala) c.5869+47A>C (n.5869+47A>C) | |
2 | g.21010687C>A | CA346002432 | APOB | c.6181G>T (p.Asp2061Tyr) c.5869+46G>T (n.5869+46G>T) | |
2 | g.21010687C>G | CA346002433 | APOB | c.6181G>C (p.Asp2061His) c.5869+46G>C (n.5869+46G>C) | |
2 | g.21010687C>T | CA346002434 | APOB | c.6181G>A (p.Asp2061Asn) c.5869+46G>A (n.5869+46G>A) | COSMIC |
2 | g.21010688A>C | CA346002435 | APOB | c.6180T>G (p.Tyr2060Ter) c.5869+45T>G (n.5869+45T>G) | |
2 | g.21010688A>G | CA425345891 | APOB | c.6180T>C (p.Tyr2060=) c.5869+45T>C (n.5869+45T>C) | |
2 | g.21010688A>T | CA346002436 | APOB | c.6180T>A (p.Tyr2060Ter) c.5869+45T>A (n.5869+45T>A) | |
2 | g.21010689T>A | CA346002438 | APOB | c.6179A>T (p.Tyr2060Phe) c.5869+44A>T (n.5869+44A>T) | |
2 | g.21010689T>C | CA062961 | APOB | c.6179A>G (p.Tyr2060Cys) c.5869+44A>G (n.5869+44A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010689T>G | CA346002437 | APOB | c.6179A>C (p.Tyr2060Ser) c.5869+44A>C (n.5869+44A>C) | |
2 | g.21010689T= | CA2493476803 | APOB | c.6179A= (p.Tyr2060=) c.5869+44A= (n.5869+44A=) | |
2 | g.21010690A= | CA2493476804 | APOB | c.6178T= (p.Tyr2060=) c.5869+43T= (n.5869+43T=) | |
2 | g.21010690A>C | CA346002439 | APOB | c.6178T>G (p.Tyr2060Asp) c.5869+43T>G (n.5869+43T>G) | |
2 | g.21010690A>G | CA346002440 | APOB | c.6178T>C (p.Tyr2060His) c.5869+43T>C (n.5869+43T>C) | dbSNP gnomAD v4 |
2 | g.21010690A>T | CA346002441 | APOB | c.6178T>A (p.Tyr2060Asn) c.5869+43T>A (n.5869+43T>A) | |
2 | g.21010691C>A | CA346002442 | APOB | c.6177G>T (p.Lys2059Asn) c.5869+42G>T (n.5869+42G>T) | |
2 | g.21010691C= | CA2493476805 | APOB | c.6177G= (p.Lys2059=) c.5869+42G= (n.5869+42G=) | |
2 | g.21010691C>G | CA346002443 | APOB | c.6177G>C (p.Lys2059Asn) c.5869+42G>C (n.5869+42G>C) | gnomAD v4 |
2 | g.21010691C>T | CA425345916 | APOB | c.6177G>A (p.Lys2059=) c.5869+42G>A (n.5869+42G>A) | dbSNP gnomAD v4 |
2 | g.21010692T>A | CA346002444 | APOB | c.6176A>T (p.Lys2059Met) c.5869+41A>T (n.5869+41A>T) | |
2 | g.21010692T>C | CA346002445 | APOB | c.6176A>G (p.Lys2059Arg) c.5869+41A>G (n.5869+41A>G) | gnomAD v4 |
2 | g.21010692T>G | CA346002446 | APOB | c.6176A>C (p.Lys2059Thr) c.5869+41A>C (n.5869+41A>C) | |
2 | g.21010693T>A | CA346002447 | APOB | c.6175A>T (p.Lys2059Ter) c.5869+40A>T (n.5869+40A>T) | |
2 | g.21010693T>C | CA346002448 | APOB | c.6175A>G (p.Lys2059Glu) c.5869+40A>G (n.5869+40A>G) | |
2 | g.21010693T>G | CA346002449 | APOB | c.6175A>C (p.Lys2059Gln) c.5869+40A>C (n.5869+40A>C) | |
2 | g.21010694T>A | CA425345919 | APOB | c.6174A>T (p.Val2058=) c.5869+39A>T (n.5869+39A>T) | |
2 | g.21010694T>C | CA425345920 | APOB | c.6174A>G (p.Val2058=) c.5869+39A>G (n.5869+39A>G) | |
2 | g.21010694T>G | CA425345922 | APOB | c.6174A>C (p.Val2058=) c.5869+39A>C (n.5869+39A>C) |