UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) | |
| 2 | g.21010695A>C | CA346002452 | APOB | c.6173T>G (p.Val2058Gly) c.5869+38T>G (n.5869+38T>G) | |
| 2 | g.21010695A>G | CA346002451 | APOB | c.6173T>C (p.Val2058Ala) c.5869+38T>C (n.5869+38T>C) | gnomAD v4 |
| 2 | g.21010695A>T | CA346002450 | APOB | c.6173T>A (p.Val2058Glu) c.5869+38T>A (n.5869+38T>A) | |
| 2 | g.21010696C>A | CA346002453 | APOB | c.6172G>T (p.Val2058Leu) c.5869+37G>T (n.5869+37G>T) | |
| 2 | g.21010696C= | CA2493476806 | APOB | c.6172G= (p.Val2058=) c.5869+37G= (n.5869+37G=) | |
| 2 | g.21010696C>G | CA346002455 | APOB | c.6172G>C (p.Val2058Leu) c.5869+37G>C (n.5869+37G>C) | |
| 2 | g.21010696C>T | CA346002454 | APOB | c.6172G>A (p.Val2058Ile) c.5869+37G>A (n.5869+37G>A) | dbSNP gnomAD v4 |
| 2 | g.21010697A>C | CA346002456 | APOB | c.6171T>G (p.Phe2057Leu) c.5869+36T>G (n.5869+36T>G) | |
| 2 | g.21010697A>G | CA425345923 | APOB | c.6171T>C (p.Phe2057=) c.5869+36T>C (n.5869+36T>C) | |
| 2 | g.21010697A>T | CA346002457 | APOB | c.6171T>A (p.Phe2057Leu) c.5869+36T>A (n.5869+36T>A) | |
| 2 | g.21010698A>C | CA346002458 | APOB | c.6170T>G (p.Phe2057Cys) c.5869+35T>G (n.5869+35T>G) | COSMIC |
| 2 | g.21010698A>G | CA346002459 | APOB | c.6170T>C (p.Phe2057Ser) c.5869+35T>C (n.5869+35T>C) | |
| 2 | g.21010698A>T | CA346002460 | APOB | c.6170T>A (p.Phe2057Tyr) c.5869+35T>A (n.5869+35T>A) | |
| 2 | g.21010699A>C | CA346002461 | APOB | c.6169T>G (p.Phe2057Val) c.5869+34T>G (n.5869+34T>G) | |
| 2 | g.21010699A>G | CA346002462 | APOB | c.6169T>C (p.Phe2057Leu) c.5869+34T>C (n.5869+34T>C) | |
| 2 | g.21010699A>T | CA346002463 | APOB | c.6169T>A (p.Phe2057Ile) c.5869+34T>A (n.5869+34T>A) | |
| 2 | g.21010700A>C | CA425345929 | APOB | c.6168T>G (p.Ala2056=) c.5869+33T>G (n.5869+33T>G) | |
| 2 | g.21010700A>G | CA425345930 | APOB | c.6168T>C (p.Ala2056=) c.5869+33T>C (n.5869+33T>C) | |
| 2 | g.21010700A>T | CA425345931 | APOB | c.6168T>A (p.Ala2056=) c.5869+33T>A (n.5869+33T>A) | |
| 2 | g.21010701G>A | CA346002464 | APOB | c.6167C>T (p.Ala2056Val) c.5869+32C>T (n.5869+32C>T) | |
| 2 | g.21010701G>C | CA346002465 | APOB | c.6167C>G (p.Ala2056Gly) c.5869+32C>G (n.5869+32C>G) | |
| 2 | g.21010701G>T | CA346002466 | APOB | c.6167C>A (p.Ala2056Asp) c.5869+32C>A (n.5869+32C>A) | |
| 2 | g.21010702C>A | CA346002467 | APOB | c.6166G>T (p.Ala2056Ser) c.5869+31G>T (n.5869+31G>T) | dbSNP gnomAD v4 |
| 2 | g.21010702C= | CA2493476807 | APOB | c.6166G= (p.Ala2056=) c.5869+31G= (n.5869+31G=) | |
| 2 | g.21010702C>G | CA346002468 | APOB | c.6166G>C (p.Ala2056Pro) c.5869+31G>C (n.5869+31G>C) | |
| 2 | g.21010702C>T | CA062957 | APOB | c.6166G>A (p.Ala2056Thr) c.5869+31G>A (n.5869+31G>A) | dbSNP ExAC gnomAD v4 |
| 2 | g.21010703A>C | CA425345936 | APOB | c.6165T>G (p.Val2055=) c.5869+30T>G (n.5869+30T>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21010703A>G | CA425345937 | APOB | c.6165T>C (p.Val2055=) c.5869+30T>C (n.5869+30T>C) | |
| 2 | g.21010703A>T | CA425345939 | APOB | c.6165T>A (p.Val2055=) c.5869+30T>A (n.5869+30T>A) | |
| 2 | g.21010704dup | CA645539130 | APOB | c.6165dup (p.Ala2056CysfsTer6) c.5869+30dup (n.5869+30dup) | COSMIC |
| 2 | g.21010704A>C | CA346002471 | APOB | c.6164T>G (p.Val2055Gly) c.5869+29T>G (n.5869+29T>G) | |
| 2 | g.21010704A>G | CA346002469 | APOB | c.6164T>C (p.Val2055Ala) c.5869+29T>C (n.5869+29T>C) | |
| 2 | g.21010704A>T | CA346002470 | APOB | c.6164T>A (p.Val2055Asp) c.5869+29T>A (n.5869+29T>A) | |
| 2 | g.21010705C>A | CA346002472 | APOB | c.6163G>T (p.Val2055Phe) c.5869+28G>T (n.5869+28G>T) | |
| 2 | g.21010705C>G | CA346002473 | APOB | c.6163G>C (p.Val2055Leu) c.5869+28G>C (n.5869+28G>C) | |
| 2 | g.21010705C>T | CA346002474 | APOB | c.6163G>A (p.Val2055Ile) c.5869+28G>A (n.5869+28G>A) | |
| 2 | g.21010706A>C | CA346002475 | APOB | c.6162T>G (p.Ile2054Met) c.5869+27T>G (n.5869+27T>G) | |
| 2 | g.21010706A>G | CA425345945 | APOB | c.6162T>C (p.Ile2054=) c.5869+27T>C (n.5869+27T>C) | |
| 2 | g.21010706A>T | CA425345944 | APOB | c.6162T>A (p.Ile2054=) c.5869+27T>A (n.5869+27T>A) | |
| 2 | g.21010707A= | CA2493476808 | APOB | c.6161T= (p.Ile2054=) c.5869+26T= (n.5869+26T=) | |
| 2 | g.21010707A>C | CA43505641 | APOB | c.6161T>G (p.Ile2054Ser) c.5869+26T>G (n.5869+26T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21010707A>G | CA346002476 | APOB | c.6161T>C (p.Ile2054Thr) c.5869+26T>C (n.5869+26T>C) | dbSNP gnomAD v4 |
| 2 | g.21010707A>T | CA43505642 | APOB | c.6161T>A (p.Ile2054Asn) c.5869+26T>A (n.5869+26T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21010708T>A | CA346002477 | APOB | c.6160A>T (p.Ile2054Phe) c.5869+25A>T (n.5869+25A>T) | |
| 2 | g.21010708T>C | CA346002478 | APOB | c.6160A>G (p.Ile2054Val) c.5869+25A>G (n.5869+25A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010708T>G | CA43505643 | APOB | c.6160A>C (p.Ile2054Leu) c.5869+25A>C (n.5869+25A>C) | dbSNP |
| 2 | g.21010708T= | CA2493476809 | APOB | c.6160A= (p.Ile2054=) c.5869+25A= (n.5869+25A=) | |
| 2 | g.21010709T>A | CA425345950 | APOB | c.6159A>T (p.Thr2053=) c.5869+24A>T (n.5869+24A>T) | |
| 2 | g.21010709T>C | CA425345951 | APOB | c.6159A>G (p.Thr2053=) c.5869+24A>G (n.5869+24A>G) | |
| 2 | g.21010709T>G | CA425345952 | APOB | c.6159A>C (p.Thr2053=) c.5869+24A>C (n.5869+24A>C) | |
| 2 | g.21010710G>A | CA346002481 | APOB | c.6158C>T (p.Thr2053Ile) c.5869+23C>T (n.5869+23C>T) | |
| 2 | g.21010710G>C | CA346002480 | APOB | c.6158C>G (p.Thr2053Arg) c.5869+23C>G (n.5869+23C>G) | |
| 2 | g.21010710G= | CA2493476810 | APOB | c.6158C= (p.Thr2053=) c.5869+23C= (n.5869+23C=) | |
| 2 | g.21010710G>T | CA346002479 | APOB | c.6158C>A (p.Thr2053Lys) c.5869+23C>A (n.5869+23C>A) | dbSNP |
| 2 | g.21010711T>A | CA346002482 | APOB | c.6157A>T (p.Thr2053Ser) c.5869+22A>T (n.5869+22A>T) | |
| 2 | g.21010711T>C | CA346002483 | APOB | c.6157A>G (p.Thr2053Ala) c.5869+22A>G (n.5869+22A>G) | |
| 2 | g.21010711T>G | CA346002484 | APOB | c.6157A>C (p.Thr2053Pro) c.5869+22A>C (n.5869+22A>C) | |
| 2 | g.21010712A>C | CA346002485 | APOB | c.6156T>G (p.Phe2052Leu) c.5869+21T>G (n.5869+21T>G) | |
| 2 | g.21010712A>G | CA425345957 | APOB | c.6156T>C (p.Phe2052=) c.5869+21T>C (n.5869+21T>C) | gnomAD v4 |
| 2 | g.21010712A>T | CA346002486 | APOB | c.6156T>A (p.Phe2052Leu) c.5869+21T>A (n.5869+21T>A) | |
| 2 | g.21010713A>C | CA346002487 | APOB | c.6155T>G (p.Phe2052Cys) c.5869+20T>G (n.5869+20T>G) | |
| 2 | g.21010713A>G | CA346002488 | APOB | c.6155T>C (p.Phe2052Ser) c.5869+20T>C (n.5869+20T>C) | |
| 2 | g.21010713A>T | CA346002489 | APOB | c.6155T>A (p.Phe2052Tyr) c.5869+20T>A (n.5869+20T>A) | |
| 2 | g.21010714A>C | CA346002490 | APOB | c.6154T>G (p.Phe2052Val) c.5869+19T>G (n.5869+19T>G) | |
| 2 | g.21010714A>G | CA346002491 | APOB | c.6154T>C (p.Phe2052Leu) c.5869+19T>C (n.5869+19T>C) | |
| 2 | g.21010714A>T | CA346002492 | APOB | c.6154T>A (p.Phe2052Ile) c.5869+19T>A (n.5869+19T>A) | |
| 2 | g.21010715T>A | CA346002493 | APOB | c.6153A>T (p.Glu2051Asp) c.5869+18A>T (n.5869+18A>T) | |
| 2 | g.21010715T>C | CA425345962 | APOB | c.6153A>G (p.Glu2051=) c.5869+18A>G (n.5869+18A>G) | |
| 2 | g.21010715T>G | CA346002494 | APOB | c.6153A>C (p.Glu2051Asp) c.5869+18A>C (n.5869+18A>C) | |
| 2 | g.21010716T>A | CA346002495 | APOB | c.6152A>T (p.Glu2051Val) c.5869+17A>T (n.5869+17A>T) | |
| 2 | g.21010716T>C | CA346002497 | APOB | c.6152A>G (p.Glu2051Gly) c.5869+17A>G (n.5869+17A>G) | |
| 2 | g.21010716T>G | CA346002496 | APOB | c.6152A>C (p.Glu2051Ala) c.5869+17A>C (n.5869+17A>C) | |
| 2 | g.21010717C>A | CA346002498 | APOB | c.6151G>T (p.Glu2051Ter) c.5869+16G>T (n.5869+16G>T) | |
| 2 | g.21010717C= | CA2493476811 | APOB | c.6151G= (p.Glu2051=) c.5869+16G= (n.5869+16G=) | |
| 2 | g.21010717C>G | CA43505650 | APOB | c.6151G>C (p.Glu2051Gln) c.5869+16G>C (n.5869+16G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010717C>T | CA062947 | APOB | c.6151G>A (p.Glu2051Lys) c.5869+16G>A (n.5869+16G>A) | dbSNP ExAC gnomAD v2 |
| 2 | g.21010718T>A | CA346002499 | APOB | c.6150A>T (p.Gln2050His) c.5869+15A>T (n.5869+15A>T) | |
| 2 | g.21010718T>C | CA425345968 | APOB | c.6150A>G (p.Gln2050=) c.5869+15A>G (n.5869+15A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010718T>G | CA346002500 | APOB | c.6150A>C (p.Gln2050His) c.5869+15A>C (n.5869+15A>C) | |
| 2 | g.21010718T= | CA2493476812 | APOB | c.6150A= (p.Gln2050=) c.5869+15A= (n.5869+15A=) | |
| 2 | g.21010719T>A | CA346002501 | APOB | c.6149A>T (p.Gln2050Leu) c.5869+14A>T (n.5869+14A>T) | |
| 2 | g.21010719T>C | CA346002502 | APOB | c.6149A>G (p.Gln2050Arg) c.5869+14A>G (n.5869+14A>G) | |
| 2 | g.21010719T>G | CA346002503 | APOB | c.6149A>C (p.Gln2050Pro) c.5869+14A>C (n.5869+14A>C) | |
| 2 | g.21010720G>A | CA346002504 | APOB | c.6148C>T (p.Gln2050Ter) c.5869+13C>T (n.5869+13C>T) | dbSNP |
| 2 | g.21010720G>C | CA346002505 | APOB | c.6148C>G (p.Gln2050Glu) c.5869+13C>G (n.5869+13C>G) | |
| 2 | g.21010720G= | CA2493476813 | APOB | c.6148C= (p.Gln2050=) c.5869+13C= (n.5869+13C=) | |
| 2 | g.21010720G>T | CA346002506 | APOB | c.6148C>A (p.Gln2050Lys) c.5869+13C>A (n.5869+13C>A) | |
| 2 | g.21010721G>A | CA425345970 | APOB | c.6147C>T (p.Pro2049=) c.5869+12C>T (n.5869+12C>T) | |
| 2 | g.21010721G>C | CA425345971 | APOB | c.6147C>G (p.Pro2049=) c.5869+12C>G (n.5869+12C>G) | |
| 2 | g.21010721G>T | CA425345972 | APOB | c.6147C>A (p.Pro2049=) c.5869+12C>A (n.5869+12C>A) | gnomAD v4 |
| 2 | g.21010722G>A | CA346002508 | APOB | c.6146C>T (p.Pro2049Leu) c.5869+11C>T (n.5869+11C>T) | |
| 2 | g.21010722G>C | CA346002509 | APOB | c.6146C>G (p.Pro2049Arg) c.5869+11C>G (n.5869+11C>G) | |
| 2 | g.21010722G>T | CA346002507 | APOB | c.6146C>A (p.Pro2049His) c.5869+11C>A (n.5869+11C>A) | |
| 2 | g.21010723G>A | CA346002512 | APOB | c.6145C>T (p.Pro2049Ser) c.5869+10C>T (n.5869+10C>T) | |
| 2 | g.21010723G>C | CA346002510 | APOB | c.6145C>G (p.Pro2049Ala) c.5869+10C>G (n.5869+10C>G) | |
| 2 | g.21010723G>T | CA346002511 | APOB | c.6145C>A (p.Pro2049Thr) c.5869+10C>A (n.5869+10C>A) | |
| 2 | g.21010724C>A | CA346002513 | APOB | c.6144G>T (p.Lys2048Asn) c.5869+9G>T (n.5869+9G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010724C= | CA2493476814 | APOB | c.6144G= (p.Lys2048=) c.5869+9G= (n.5869+9G=) | |
| 2 | g.21010724C>G | CA346002514 | APOB | c.6144G>C (p.Lys2048Asn) c.5869+9G>C (n.5869+9G>C) | |
| 2 | g.21010724C>T | CA062943 | APOB | c.6144G>A (p.Lys2048=) c.5869+9G>A (n.5869+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |