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.21010520T>A | CA425346111 | APOB | c.6348A>T (p.Gly2116=) c.5869+213A>T (n.5869+213A>T) | |
| 2 | g.21010520T>C | CA063129 | APOB | c.6348A>G (p.Gly2116=) c.5869+213A>G (n.5869+213A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010520T>G | CA425346112 | APOB | c.6348A>C (p.Gly2116=) c.5869+213A>C (n.5869+213A>C) | |
| 2 | g.21010520T= | CA2493476731 | APOB | c.6348A= (p.Gly2116=) c.5869+213A= (n.5869+213A=) | |
| 2 | g.21010521C>A | CA346001961 | APOB | c.6347G>T (p.Gly2116Val) c.5869+212G>T (n.5869+212G>T) | |
| 2 | g.21010521C>G | CA346001962 | APOB | c.6347G>C (p.Gly2116Ala) c.5869+212G>C (n.5869+212G>C) | |
| 2 | g.21010521C>T | CA346001963 | APOB | c.6347G>A (p.Gly2116Glu) c.5869+212G>A (n.5869+212G>A) | COSMIC |
| 2 | g.21010522C>A | CA346001964 | APOB | c.6346G>T (p.Gly2116Ter) c.5869+211G>T (n.5869+211G>T) | |
| 2 | g.21010522C>G | CA346001965 | APOB | c.6346G>C (p.Gly2116Arg) c.5869+211G>C (n.5869+211G>C) | |
| 2 | g.21010522C>T | CA346001966 | APOB | c.6346G>A (p.Gly2116Arg) c.5869+211G>A (n.5869+211G>A) | |
| 2 | g.21010523C>A | CA425346116 | APOB | c.6345G>T (p.Leu2115=) c.5869+210G>T (n.5869+210G>T) | |
| 2 | g.21010523C= | CA2493476732 | APOB | c.6345G= (p.Leu2115=) c.5869+210G= (n.5869+210G=) | |
| 2 | g.21010523C>G | CA425346118 | APOB | c.6345G>C (p.Leu2115=) c.5869+210G>C (n.5869+210G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010523C>T | CA425346119 | APOB | c.6345G>A (p.Leu2115=) c.5869+210G>A (n.5869+210G>A) | COSMIC |
| 2 | g.21010524A>C | CA346001967 | APOB | c.6344T>G (p.Leu2115Arg) c.5869+209T>G (n.5869+209T>G) | |
| 2 | g.21010524A>G | CA346001968 | APOB | c.6344T>C (p.Leu2115Pro) c.5869+209T>C (n.5869+209T>C) | |
| 2 | g.21010524A>T | CA346001969 | APOB | c.6344T>A (p.Leu2115Gln) c.5869+209T>A (n.5869+209T>A) | |
| 2 | g.21010525G>A | CA425346121 | APOB | c.6343C>T (p.Leu2115=) c.5869+208C>T (n.5869+208C>T) | |
| 2 | g.21010525G>C | CA346001970 | APOB | c.6343C>G (p.Leu2115Val) c.5869+208C>G (n.5869+208C>G) | |
| 2 | g.21010525G>T | CA346001971 | APOB | c.6343C>A (p.Leu2115Met) c.5869+208C>A (n.5869+208C>A) | |
| 2 | g.21010525_21010530del | CA2658056054 | APOB | c.6338_6343del (p.Ala2113_Leu2115delinsVal) c.5869+203_5869+208del (n.5869+203_5869+208del) | gnomAD v4 |
| 2 | g.21010526G>A | CA063120 | APOB | c.6342C>T (p.Ala2114=) c.5869+207C>T (n.5869+207C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010526G>C | CA425346130 | APOB | c.6342C>G (p.Ala2114=) c.5869+207C>G (n.5869+207C>G) | |
| 2 | g.21010526G= | CA2493476733 | APOB | c.6342C= (p.Ala2114=) c.5869+207C= (n.5869+207C=) | |
| 2 | g.21010526G>T | CA425346131 | APOB | c.6342C>A (p.Ala2114=) c.5869+207C>A (n.5869+207C>A) | |
| 2 | g.21010527G>A | CA346001972 | APOB | c.6341C>T (p.Ala2114Val) c.5869+206C>T (n.5869+206C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010527G>C | CA346001974 | APOB | c.6341C>G (p.Ala2114Gly) c.5869+206C>G (n.5869+206C>G) | |
| 2 | g.21010527G= | CA2493476734 | APOB | c.6341C= (p.Ala2114=) c.5869+206C= (n.5869+206C=) | |
| 2 | g.21010527G>T | CA346001973 | APOB | c.6341C>A (p.Ala2114Asp) c.5869+206C>A (n.5869+206C>A) | |
| 2 | g.21010528C>A | CA346001975 | APOB | c.6340G>T (p.Ala2114Ser) c.5869+205G>T (n.5869+205G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21010528C= | CA2493476735 | APOB | c.6340G= (p.Ala2114=) c.5869+205G= (n.5869+205G=) | |
| 2 | g.21010528C>G | CA43505461 | APOB | c.6340G>C (p.Ala2114Pro) c.5869+205G>C (n.5869+205G>C) | dbSNP |
| 2 | g.21010528C>T | CA346001976 | APOB | c.6340G>A (p.Ala2114Thr) c.5869+205G>A (n.5869+205G>A) | |
| 2 | g.21010529T>A | CA425346134 | APOB | c.6339A>T (p.Ala2113=) c.5869+204A>T (n.5869+204A>T) | |
| 2 | g.21010529T>C | CA425346137 | APOB | c.6339A>G (p.Ala2113=) c.5869+204A>G (n.5869+204A>G) | |
| 2 | g.21010529T>G | CA425346140 | APOB | c.6339A>C (p.Ala2113=) c.5869+204A>C (n.5869+204A>C) | |
| 2 | g.21010530G>A | CA43505462 | APOB | c.6338C>T (p.Ala2113Val) c.5869+203C>T (n.5869+203C>T) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21010530G>C | CA346001977 | APOB | c.6338C>G (p.Ala2113Gly) c.5869+203C>G (n.5869+203C>G) | |
| 2 | g.21010530G= | CA2493476736 | APOB | c.6338C= (p.Ala2113=) c.5869+203C= (n.5869+203C=) | |
| 2 | g.21010530G>T | CA346001978 | APOB | c.6338C>A (p.Ala2113Glu) c.5869+203C>A (n.5869+203C>A) | dbSNP gnomAD v4 |
| 2 | g.21010531C>A | CA346001979 | APOB | c.6337G>T (p.Ala2113Ser) c.5869+202G>T (n.5869+202G>T) | gnomAD v4 |
| 2 | g.21010531C= | CA2493476737 | APOB | c.6337G= (p.Ala2113=) c.5869+202G= (n.5869+202G=) | |
| 2 | g.21010531C>G | CA346001980 | APOB | c.6337G>C (p.Ala2113Pro) c.5869+202G>C (n.5869+202G>C) | |
| 2 | g.21010531C>T | CA063112 | APOB | c.6337G>A (p.Ala2113Thr) c.5869+202G>A (n.5869+202G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010532T>A | CA346001981 | APOB | c.6336A>T (p.Arg2112Ser) c.5869+201A>T (n.5869+201A>T) | |
| 2 | g.21010532T>C | CA425346147 | APOB | c.6336A>G (p.Arg2112=) c.5869+201A>G (n.5869+201A>G) | ClinVar |
| 2 | g.21010532T>G | CA346001982 | APOB | c.6336A>C (p.Arg2112Ser) c.5869+201A>C (n.5869+201A>C) | |
| 2 | g.21010533C>A | CA346001983 | APOB | c.6335G>T (p.Arg2112Ile) c.5869+200G>T (n.5869+200G>T) | |
| 2 | g.21010533C>G | CA346001984 | APOB | c.6335G>C (p.Arg2112Thr) c.5869+200G>C (n.5869+200G>C) | |
| 2 | g.21010533C>T | CA346001985 | APOB | c.6335G>A (p.Arg2112Lys) c.5869+200G>A (n.5869+200G>A) | gnomAD v4 |
| 2 | g.21010534T>A | CA346001986 | APOB | c.6334A>T (p.Arg2112Ter) c.5869+199A>T (n.5869+199A>T) | |
| 2 | g.21010534T>C | CA346001987 | APOB | c.6334A>G (p.Arg2112Gly) c.5869+199A>G (n.5869+199A>G) | |
| 2 | g.21010534T>G | CA425346151 | APOB | c.6334A>C (p.Arg2112=) c.5869+199A>C (n.5869+199A>C) | |
| 2 | g.21010535G>A | CA425346156 | APOB | c.6333C>T (p.Tyr2111=) c.5869+198C>T (n.5869+198C>T) | |
| 2 | g.21010535G>C | CA346001988 | APOB | c.6333C>G (p.Tyr2111Ter) c.5869+198C>G (n.5869+198C>G) | gnomAD v4 |
| 2 | g.21010535G= | CA2493476738 | APOB | c.6333C= (p.Tyr2111=) c.5869+198C= (n.5869+198C=) | |
| 2 | g.21010535G>T | CA346001989 | APOB | c.6333C>A (p.Tyr2111Ter) c.5869+198C>A (n.5869+198C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010536T>A | CA346001990 | APOB | c.6332A>T (p.Tyr2111Phe) c.5869+197A>T (n.5869+197A>T) | |
| 2 | g.21010536T>C | CA43505475 | APOB | c.6332A>G (p.Tyr2111Cys) c.5869+197A>G (n.5869+197A>G) | ClinVar dbSNP |
| 2 | g.21010536T>G | CA346001991 | APOB | c.6332A>C (p.Tyr2111Ser) c.5869+197A>C (n.5869+197A>C) | |
| 2 | g.21010536T= | CA2493476739 | APOB | c.6332A= (p.Tyr2111=) c.5869+197A= (n.5869+197A=) | |
| 2 | g.21010537A= | CA2493476740 | APOB | c.6331T= (p.Tyr2111=) c.5869+196T= (n.5869+196T=) | |
| 2 | g.21010537A>C | CA346001992 | APOB | c.6331T>G (p.Tyr2111Asp) c.5869+196T>G (n.5869+196T>G) | dbSNP |
| 2 | g.21010537A>G | CA346001993 | APOB | c.6331T>C (p.Tyr2111His) c.5869+196T>C (n.5869+196T>C) | |
| 2 | g.21010537A>T | CA346001994 | APOB | c.6331T>A (p.Tyr2111Asn) c.5869+196T>A (n.5869+196T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010538T>A | CA346001995 | APOB | c.6330A>T (p.Lys2110Asn) c.5869+195A>T (n.5869+195A>T) | |
| 2 | g.21010538T>C | CA425346160 | APOB | c.6330A>G (p.Lys2110=) c.5869+195A>G (n.5869+195A>G) | |
| 2 | g.21010538T>G | CA346001996 | APOB | c.6330A>C (p.Lys2110Asn) c.5869+195A>C (n.5869+195A>C) | |
| 2 | g.21010541del | CA2580065006 | APOB | c.6330del (p.Lys2110AsnfsTer17) c.5869+195del (n.5869+195del) | ClinVar |
| 2 | g.21010538_21010546del | CA2658056055 | APOB | c.6322_6330del (p.Val2108_Lys2110del) c.5869+187_5869+195del (n.5869+187_5869+195del) | gnomAD v4 |
| 2 | g.21010539T>A | CA346001997 | APOB | c.6329A>T (p.Lys2110Ile) c.5869+194A>T (n.5869+194A>T) | |
| 2 | g.21010539T>C | CA346001998 | APOB | c.6329A>G (p.Lys2110Arg) c.5869+194A>G (n.5869+194A>G) | |
| 2 | g.21010539T>G | CA346001999 | APOB | c.6329A>C (p.Lys2110Thr) c.5869+194A>C (n.5869+194A>C) | |
| 2 | g.21010540T>A | CA346002001 | APOB | c.6328A>T (p.Lys2110Ter) c.5869+193A>T (n.5869+193A>T) | |
| 2 | g.21010540T>C | CA346002002 | APOB | c.6328A>G (p.Lys2110Glu) c.5869+193A>G (n.5869+193A>G) | |
| 2 | g.21010540T>G | CA346002000 | APOB | c.6328A>C (p.Lys2110Gln) c.5869+193A>C (n.5869+193A>C) | |
| 2 | g.21010541T>A | CA346002003 | APOB | c.6327A>T (p.Arg2109Ser) c.5869+192A>T (n.5869+192A>T) | |
| 2 | g.21010541T>C | CA425346164 | APOB | c.6327A>G (p.Arg2109=) c.5869+192A>G (n.5869+192A>G) | |
| 2 | g.21010541T>G | CA346002004 | APOB | c.6327A>C (p.Arg2109Ser) c.5869+192A>C (n.5869+192A>C) | |
| 2 | g.21010542C>A | CA346002005 | APOB | c.6326G>T (p.Arg2109Ile) c.5869+191G>T (n.5869+191G>T) | |
| 2 | g.21010542C= | CA2493476741 | APOB | c.6326G= (p.Arg2109=) c.5869+191G= (n.5869+191G=) | |
| 2 | g.21010542C>G | CA346002006 | APOB | c.6326G>C (p.Arg2109Thr) c.5869+191G>C (n.5869+191G>C) | |
| 2 | g.21010542C>T | CA063108 | APOB | c.6326G>A (p.Arg2109Lys) c.5869+191G>A (n.5869+191G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010543T>A | CA346002007 | APOB | c.6325A>T (p.Arg2109Ter) c.5869+190A>T (n.5869+190A>T) | |
| 2 | g.21010543T>C | CA346002008 | APOB | c.6325A>G (p.Arg2109Gly) c.5869+190A>G (n.5869+190A>G) | |
| 2 | g.21010543T>G | CA425346171 | APOB | c.6325A>C (p.Arg2109=) c.5869+190A>C (n.5869+190A>C) | |
| 2 | g.21010544T>A | CA425346172 | APOB | c.6324A>T (p.Val2108=) c.5869+189A>T (n.5869+189A>T) | |
| 2 | g.21010544T>C | CA425346173 | APOB | c.6324A>G (p.Val2108=) c.5869+189A>G (n.5869+189A>G) | gnomAD v4 |
| 2 | g.21010544T>G | CA425346174 | APOB | c.6324A>C (p.Val2108=) c.5869+189A>C (n.5869+189A>C) | |
| 2 | g.21010545A>C | CA346002009 | APOB | c.6323T>G (p.Val2108Gly) c.5869+188T>G (n.5869+188T>G) | |
| 2 | g.21010545A>G | CA346002011 | APOB | c.6323T>C (p.Val2108Ala) c.5869+188T>C (n.5869+188T>C) | |
| 2 | g.21010545A>T | CA346002010 | APOB | c.6323T>A (p.Val2108Glu) c.5869+188T>A (n.5869+188T>A) | |
| 2 | g.21010546C>A | CA346002012 | APOB | c.6322G>T (p.Val2108Leu) c.5869+187G>T (n.5869+187G>T) | |
| 2 | g.21010546C>G | CA346002013 | APOB | c.6322G>C (p.Val2108Leu) c.5869+187G>C (n.5869+187G>C) | |
| 2 | g.21010546C>T | CA346002014 | APOB | c.6322G>A (p.Val2108Ile) c.5869+187G>A (n.5869+187G>A) | |
| 2 | g.21010547A>C | CA346002015 | APOB | c.6321T>G (p.Phe2107Leu) c.5869+186T>G (n.5869+186T>G) | |
| 2 | g.21010547A>G | CA425346179 | APOB | c.6321T>C (p.Phe2107=) c.5869+186T>C (n.5869+186T>C) | |
| 2 | g.21010547A>T | CA346002016 | APOB | c.6321T>A (p.Phe2107Leu) c.5869+186T>A (n.5869+186T>A) | |
| 2 | g.21010548A>C | CA346002017 | APOB | c.6320T>G (p.Phe2107Cys) c.5869+185T>G (n.5869+185T>G) | |
| 2 | g.21010548A>G | CA346002019 | APOB | c.6320T>C (p.Phe2107Ser) c.5869+185T>C (n.5869+185T>C) | |
| 2 | g.21010548A>T | CA346002018 | APOB | c.6320T>A (p.Phe2107Tyr) c.5869+185T>A (n.5869+185T>A) | |
| 2 | g.21010549A>C | CA346002020 | APOB | c.6319T>G (p.Phe2107Val) c.5869+184T>G (n.5869+184T>G) | |
| 2 | g.21010549A>G | CA346002021 | APOB | c.6319T>C (p.Phe2107Leu) c.5869+184T>C (n.5869+184T>C) | gnomAD v4 |
| 2 | g.21010549A>T | CA346002022 | APOB | c.6319T>A (p.Phe2107Ile) c.5869+184T>A (n.5869+184T>A) | |
| 2 | g.21010550T>A | CA346002023 | APOB | c.6318A>T (p.Gln2106His) c.5869+183A>T (n.5869+183A>T) | |
| 2 | g.21010550T>C | CA425346186 | APOB | c.6318A>G (p.Gln2106=) c.5869+183A>G (n.5869+183A>G) | gnomAD v4 |
| 2 | g.21010550T>G | CA346002024 | APOB | c.6318A>C (p.Gln2106His) c.5869+183A>C (n.5869+183A>C) | COSMIC |
| 2 | g.21010551T>A | CA346002025 | APOB | c.6317A>T (p.Gln2106Leu) c.5869+182A>T (n.5869+182A>T) | |
| 2 | g.21010551T>C | CA346002026 | APOB | c.6317A>G (p.Gln2106Arg) c.5869+182A>G (n.5869+182A>G) | |
| 2 | g.21010551T>G | CA346002027 | APOB | c.6317A>C (p.Gln2106Pro) c.5869+182A>C (n.5869+182A>C) | |
| 2 | g.21010552G>A | CA346002028 | APOB | c.6316C>T (p.Gln2106Ter) c.5869+181C>T (n.5869+181C>T) | |
| 2 | g.21010552G>C | CA346002029 | APOB | c.6316C>G (p.Gln2106Glu) c.5869+181C>G (n.5869+181C>G) | |
| 2 | g.21010552G>T | CA346002030 | APOB | c.6316C>A (p.Gln2106Lys) c.5869+181C>A (n.5869+181C>A) | |
| 2 | g.21010553A= | CA2493476742 | APOB | c.6315T= (p.Asp2105=) c.5869+180T= (n.5869+180T=) | |
| 2 | g.21010553A>C | CA346002031 | APOB | c.6315T>G (p.Asp2105Glu) c.5869+180T>G (n.5869+180T>G) | |
| 2 | g.21010553A>G | CA425346191 | APOB | c.6315T>C (p.Asp2105=) c.5869+180T>C (n.5869+180T>C) | ClinVar dbSNP gnomAD v2 |
| 2 | g.21010553A>T | CA063100 | APOB | c.6315T>A (p.Asp2105Glu) c.5869+180T>A (n.5869+180T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010554T>A | CA346002032 | APOB | c.6314A>T (p.Asp2105Val) c.5869+179A>T (n.5869+179A>T) | |
| 2 | g.21010554T>C | CA346002034 | APOB | c.6314A>G (p.Asp2105Gly) c.5869+179A>G (n.5869+179A>G) | |
| 2 | g.21010554T>G | CA346002033 | APOB | c.6314A>C (p.Asp2105Ala) c.5869+179A>C (n.5869+179A>C) | |
| 2 | g.21010555C>A | CA346002035 | APOB | c.6313G>T (p.Asp2105Tyr) c.5869+178G>T (n.5869+178G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010555C= | CA2493476743 | APOB | c.6313G= (p.Asp2105=) c.5869+178G= (n.5869+178G=) | |
| 2 | g.21010555C>G | CA346002036 | APOB | c.6313G>C (p.Asp2105His) c.5869+178G>C (n.5869+178G>C) | |
| 2 | g.21010555C>T | CA346002037 | APOB | c.6313G>A (p.Asp2105Asn) c.5869+178G>A (n.5869+178G>A) | |
| 2 | g.21010556A= | CA2493476744 | APOB | c.6312T= (p.Ile2104=) c.5869+177T= (n.5869+177T=) | |
| 2 | g.21010556A>C | CA346002038 | APOB | c.6312T>G (p.Ile2104Met) c.5869+177T>G (n.5869+177T>G) | gnomAD v4 |
| 2 | g.21010556A>G | CA43505480 | APOB | c.6312T>C (p.Ile2104=) c.5869+177T>C (n.5869+177T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010556A>T | CA425346198 | APOB | c.6312T>A (p.Ile2104=) c.5869+177T>A (n.5869+177T>A) | |
| 2 | g.21010557A= | CA2493476745 | APOB | c.6311T= (p.Ile2104=) c.5869+176T= (n.5869+176T=) | |
| 2 | g.21010557A>C | CA346002039 | APOB | c.6311T>G (p.Ile2104Ser) c.5869+176T>G (n.5869+176T>G) | |
| 2 | g.21010557A>G | CA063096 | APOB | c.6311T>C (p.Ile2104Thr) c.5869+176T>C (n.5869+176T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010557A>T | CA346002040 | APOB | c.6311T>A (p.Ile2104Asn) c.5869+176T>A (n.5869+176T>A) | |
| 2 | g.21010558del | CA2658056057 | APOB | c.6310del (p.Ile2104LeufsTer5) c.5869+175del (n.5869+175del) | gnomAD v4 |
| 2 | g.21010558T>A | CA346002041 | APOB | c.6310A>T (p.Ile2104Phe) c.5869+175A>T (n.5869+175A>T) | |
| 2 | g.21010558T>C | CA346002042 | APOB | c.6310A>G (p.Ile2104Val) c.5869+175A>G (n.5869+175A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010558T>G | CA346002043 | APOB | c.6310A>C (p.Ile2104Leu) c.5869+175A>C (n.5869+175A>C) | |
| 2 | g.21010558T= | CA2493476746 | APOB | c.6310A= (p.Ile2104=) c.5869+175A= (n.5869+175A=) | |
| 2 | g.21010559A>C | CA346002044 | APOB | c.6309T>G (p.Asn2103Lys) c.5869+174T>G (n.5869+174T>G) | |
| 2 | g.21010559A>G | CA425346203 | APOB | c.6309T>C (p.Asn2103=) c.5869+174T>C (n.5869+174T>C) | |
| 2 | g.21010559A>T | CA346002045 | APOB | c.6309T>A (p.Asn2103Lys) c.5869+174T>A (n.5869+174T>A) | |
| 2 | g.21010560T>A | CA346002048 | APOB | c.6308A>T (p.Asn2103Ile) c.5869+173A>T (n.5869+173A>T) | |
| 2 | g.21010560T>C | CA346002046 | APOB | c.6308A>G (p.Asn2103Ser) c.5869+173A>G (n.5869+173A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010560T>G | CA346002047 | APOB | c.6308A>C (p.Asn2103Thr) c.5869+173A>C (n.5869+173A>C) | |
| 2 | g.21010560T= | CA2493476747 | APOB | c.6308A= (p.Asn2103=) c.5869+173A= (n.5869+173A=) | |
| 2 | g.21010561T>A | CA346002049 | APOB | c.6307A>T (p.Asn2103Tyr) c.5869+172A>T (n.5869+172A>T) | |
| 2 | g.21010561T>C | CA346002050 | APOB | c.6307A>G (p.Asn2103Asp) c.5869+172A>G (n.5869+172A>G) | |
| 2 | g.21010561T>G | CA346002051 | APOB | c.6307A>C (p.Asn2103His) c.5869+172A>C (n.5869+172A>C) | |
| 2 | g.21010562G>A | CA425346208 | APOB | c.6306C>T (p.Ile2102=) c.5869+171C>T (n.5869+171C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21010562G>C | CA346002052 | APOB | c.6306C>G (p.Ile2102Met) c.5869+171C>G (n.5869+171C>G) | |
| 2 | g.21010562G= | CA2493476748 | APOB | c.6306C= (p.Ile2102=) c.5869+171C= (n.5869+171C=) | |
| 2 | g.21010562G>T | CA425346210 | APOB | c.6306C>A (p.Ile2102=) c.5869+171C>A (n.5869+171C>A) | |
| 2 | g.21010563A= | CA2493476749 | APOB | c.6305T= (p.Ile2102=) c.5869+170T= (n.5869+170T=) | |
| 2 | g.21010563A>C | CA346002053 | APOB | c.6305T>G (p.Ile2102Ser) c.5869+170T>G (n.5869+170T>G) | |
| 2 | g.21010563A>G | CA346002054 | APOB | c.6305T>C (p.Ile2102Thr) c.5869+170T>C (n.5869+170T>C) | |
| 2 | g.21010563A>T | CA346002055 | APOB | c.6305T>A (p.Ile2102Asn) c.5869+170T>A (n.5869+170T>A) | dbSNP |
| 2 | g.21010564T>A | CA346002056 | APOB | c.6304A>T (p.Ile2102Phe) c.5869+169A>T (n.5869+169A>T) | |
| 2 | g.21010564T>C | CA10614173 | APOB | c.6304A>G (p.Ile2102Val) c.5869+169A>G (n.5869+169A>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21010564T>G | CA346002057 | APOB | c.6304A>C (p.Ile2102Leu) c.5869+169A>C (n.5869+169A>C) | |
| 2 | g.21010564T= | CA2493476750 | APOB | c.6304A= (p.Ile2102=) c.5869+169A= (n.5869+169A=) | |
| 2 | g.21010565G>A | CA425345759 | APOB | c.6303C>T (p.His2101=) c.5869+168C>T (n.5869+168C>T) | ClinVar |
| 2 | g.21010565G>C | CA346002058 | APOB | c.6303C>G (p.His2101Gln) c.5869+168C>G (n.5869+168C>G) | |
| 2 | g.21010565G>T | CA346002059 | APOB | c.6303C>A (p.His2101Gln) c.5869+168C>A (n.5869+168C>A) | |
| 2 | g.21010566T>A | CA346002061 | APOB | c.6302A>T (p.His2101Leu) c.5869+167A>T (n.5869+167A>T) | |
| 2 | g.21010566T>C | CA43505499 | APOB | c.6302A>G (p.His2101Arg) c.5869+167A>G (n.5869+167A>G) | dbSNP |
| 2 | g.21010566T>G | CA346002060 | APOB | c.6302A>C (p.His2101Pro) c.5869+167A>C (n.5869+167A>C) | |
| 2 | g.21010566T= | CA2493476751 | APOB | c.6302A= (p.His2101=) c.5869+167A= (n.5869+167A=) | |
| 2 | g.21010567G>A | CA346002062 | APOB | c.6301C>T (p.His2101Tyr) c.5869+166C>T (n.5869+166C>T) | |
| 2 | g.21010567G>C | CA346002064 | APOB | c.6301C>G (p.His2101Asp) c.5869+166C>G (n.5869+166C>G) | |
| 2 | g.21010567G>T | CA346002063 | APOB | c.6301C>A (p.His2101Asn) c.5869+166C>A (n.5869+166C>A) | |
| 2 | g.21010568C>A | CA346002065 | APOB | c.6300G>T (p.Lys2100Asn) c.5869+165G>T (n.5869+165G>T) | dbSNP |
| 2 | g.21010568C= | CA2493476752 | APOB | c.6300G= (p.Lys2100=) c.5869+165G= (n.5869+165G=) | |
| 2 | g.21010568C>G | CA346002066 | APOB | c.6300G>C (p.Lys2100Asn) c.5869+165G>C (n.5869+165G>C) | |
| 2 | g.21010568C>T | CA425345765 | APOB | c.6300G>A (p.Lys2100=) c.5869+165G>A (n.5869+165G>A) | |
| 2 | g.21010569T>A | CA346002067 | APOB | c.6299A>T (p.Lys2100Met) c.5869+164A>T (n.5869+164A>T) | |
| 2 | g.21010569T>C | CA063089 | APOB | c.6299A>G (p.Lys2100Arg) c.5869+164A>G (n.5869+164A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010569T>G | CA346002068 | APOB | c.6299A>C (p.Lys2100Thr) c.5869+164A>C (n.5869+164A>C) | |
| 2 | g.21010569T= | CA2493476753 | APOB | c.6299A= (p.Lys2100=) c.5869+164A= (n.5869+164A=) | |
| 2 | g.21010570T>A | CA346002069 | APOB | c.6298A>T (p.Lys2100Ter) c.5869+163A>T (n.5869+163A>T) | gnomAD v4 |
| 2 | g.21010570T>C | CA346002070 | APOB | c.6298A>G (p.Lys2100Glu) c.5869+163A>G (n.5869+163A>G) | |
| 2 | g.21010570T>G | CA346002071 | APOB | c.6298A>C (p.Lys2100Gln) c.5869+163A>C (n.5869+163A>C) | |
| 2 | g.21010571C>A | CA425345768 | APOB | c.6297G>T (p.Leu2099=) c.5869+162G>T (n.5869+162G>T) | |
| 2 | g.21010571C= | CA2493476754 | APOB | c.6297G= (p.Leu2099=) c.5869+162G= (n.5869+162G=) | |
| 2 | g.21010571C>G | CA425345769 | APOB | c.6297G>C (p.Leu2099=) c.5869+162G>C (n.5869+162G>C) | |
| 2 | g.21010571C>T | CA425345770 | APOB | c.6297G>A (p.Leu2099=) c.5869+162G>A (n.5869+162G>A) | dbSNP |
| 2 | g.21010572A>C | CA346002072 | APOB | c.6296T>G (p.Leu2099Arg) c.5869+161T>G (n.5869+161T>G) | |
| 2 | g.21010572A>G | CA346002073 | APOB | c.6296T>C (p.Leu2099Pro) c.5869+161T>C (n.5869+161T>C) | |
| 2 | g.21010572A>T | CA346002074 | APOB | c.6296T>A (p.Leu2099Gln) c.5869+161T>A (n.5869+161T>A) | |
| 2 | g.21010573G>A | CA063085 | APOB | c.6295C>T (p.Leu2099=) c.5869+160C>T (n.5869+160C>T) | dbSNP ExAC |
| 2 | g.21010573G>C | CA346002076 | APOB | c.6295C>G (p.Leu2099Val) c.5869+160C>G (n.5869+160C>G) | |
| 2 | g.21010573G= | CA2493476755 | APOB | c.6295C= (p.Leu2099=) c.5869+160C= (n.5869+160C=) | |
| 2 | g.21010573G>T | CA346002075 | APOB | c.6295C>A (p.Leu2099Met) c.5869+160C>A (n.5869+160C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21010574G>A | CA425345773 | APOB | c.6294C>T (p.Asn2098=) c.5869+159C>T (n.5869+159C>T) | |
| 2 | g.21010574G>C | CA346002077 | APOB | c.6294C>G (p.Asn2098Lys) c.5869+159C>G (n.5869+159C>G) | |
| 2 | g.21010574G= | CA2493476756 | APOB | c.6294C= (p.Asn2098=) c.5869+159C= (n.5869+159C=) | |
| 2 | g.21010574G>T | CA346002078 | APOB | c.6294C>A (p.Asn2098Lys) c.5869+159C>A (n.5869+159C>A) | dbSNP |
| 2 | g.21010575T>A | CA346002079 | APOB | c.6293A>T (p.Asn2098Ile) c.5869+158A>T (n.5869+158A>T) | |
| 2 | g.21010575T>C | CA346002080 | APOB | c.6293A>G (p.Asn2098Ser) c.5869+158A>G (n.5869+158A>G) | |
| 2 | g.21010575T>G | CA346002081 | APOB | c.6293A>C (p.Asn2098Thr) c.5869+158A>C (n.5869+158A>C) | |
| 2 | g.21010576T>A | CA346002082 | APOB | c.6292A>T (p.Asn2098Tyr) c.5869+157A>T (n.5869+157A>T) | gnomAD v4 |
| 2 | g.21010576T>C | CA346002083 | APOB | c.6292A>G (p.Asn2098Asp) c.5869+157A>G (n.5869+157A>G) | dbSNP |
| 2 | g.21010576T>G | CA346002084 | APOB | c.6292A>C (p.Asn2098His) c.5869+157A>C (n.5869+157A>C) | |
| 2 | g.21010577T>A | CA346002085 | APOB | c.6291A>T (p.Arg2097Ser) c.5869+156A>T (n.5869+156A>T) | dbSNP |
| 2 | g.21010577T>C | CA425345776 | APOB | c.6291A>G (p.Arg2097=) c.5869+156A>G (n.5869+156A>G) | |
| 2 | g.21010577T>G | CA346002086 | APOB | c.6291A>C (p.Arg2097Ser) c.5869+156A>C (n.5869+156A>C) | |
| 2 | g.21010577T= | CA2493476757 | APOB | c.6291A= (p.Arg2097=) c.5869+156A= (n.5869+156A=) | |
| 2 | g.21010578C>A | CA346002087 | APOB | c.6290G>T (p.Arg2097Ile) c.5869+155G>T (n.5869+155G>T) | |
| 2 | g.21010578C>G | CA346002088 | APOB | c.6290G>C (p.Arg2097Thr) c.5869+155G>C (n.5869+155G>C) | |
| 2 | g.21010578C>T | CA346002089 | APOB | c.6290G>A (p.Arg2097Lys) c.5869+155G>A (n.5869+155G>A) | gnomAD v4 |
| 2 | g.21010579T>A | CA346002091 | APOB | c.6289A>T (p.Arg2097Ter) c.5869+154A>T (n.5869+154A>T) | gnomAD v4 |
| 2 | g.21010579T>C | CA346002090 | APOB | c.6289A>G (p.Arg2097Gly) c.5869+154A>G (n.5869+154A>G) | |
| 2 | g.21010579T>G | CA425345779 | APOB | c.6289A>C (p.Arg2097=) c.5869+154A>C (n.5869+154A>C) | |
| 2 | g.21010580C>A | CA346002092 | APOB | c.6288G>T (p.Gln2096His) c.5869+153G>T (n.5869+153G>T) | |
| 2 | g.21010580C= | CA2493476758 | APOB | c.6288G= (p.Gln2096=) c.5869+153G= (n.5869+153G=) | |
| 2 | g.21010580C>G | CA346002093 | APOB | c.6288G>C (p.Gln2096His) c.5869+153G>C (n.5869+153G>C) | |
| 2 | g.21010580C>T | CA063081 | APOB | c.6288G>A (p.Gln2096=) c.5869+153G>A (n.5869+153G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010581T>A | CA346002094 | APOB | c.6287A>T (p.Gln2096Leu) c.5869+152A>T (n.5869+152A>T) | |
| 2 | g.21010581T>C | CA346002095 | APOB | c.6287A>G (p.Gln2096Arg) c.5869+152A>G (n.5869+152A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010581T>G | CA346002096 | APOB | c.6287A>C (p.Gln2096Pro) c.5869+152A>C (n.5869+152A>C) | |
| 2 | g.21010581T= | CA2493476759 | APOB | c.6287A= (p.Gln2096=) c.5869+152A= (n.5869+152A=) | |
| 2 | g.21010582_21010583del | CA2586968876 | APOB | c.6286_6287del (p.Gln2096GlufsTer9) c.5869+151_5869+152del (n.5869+151_5869+152del) | |
| 2 | g.21010582G>A | CA346002099 | APOB | c.6286C>T (p.Gln2096Ter) c.5869+151C>T (n.5869+151C>T) | |
| 2 | g.21010582G>C | CA346002098 | APOB | c.6286C>G (p.Gln2096Glu) c.5869+151C>G (n.5869+151C>G) | |
| 2 | g.21010582G>T | CA346002097 | APOB | c.6286C>A (p.Gln2096Lys) c.5869+151C>A (n.5869+151C>A) | |
| 2 | g.21010584_21010587del | CA2658056058 | APOB | c.6283_6286del (p.Val2095ArgfsTer4) c.5869+148_5869+151del (n.5869+148_5869+151del) | gnomAD v4 |
| 2 | g.21010583T>A | CA425345782 | APOB | c.6285A>T (p.Val2095=) c.5869+150A>T (n.5869+150A>T) | |
| 2 | g.21010583T>C | CA43505506 | APOB | c.6285A>G (p.Val2095=) c.5869+150A>G (n.5869+150A>G) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21010583T>G | CA425345781 | APOB | c.6285A>C (p.Val2095=) c.5869+150A>C (n.5869+150A>C) | |
| 2 | g.21010583T= | CA2493476760 | APOB | c.6285A= (p.Val2095=) c.5869+150A= (n.5869+150A=) | |
| 2 | g.21010584A>C | CA346002100 | APOB | c.6284T>G (p.Val2095Gly) c.5869+149T>G (n.5869+149T>G) | |
| 2 | g.21010584A>G | CA346002101 | APOB | c.6284T>C (p.Val2095Ala) c.5869+149T>C (n.5869+149T>C) | |
| 2 | g.21010584A>T | CA346002102 | APOB | c.6284T>A (p.Val2095Glu) c.5869+149T>A (n.5869+149T>A) | |
| 2 | g.21010585C>A | CA346002103 | APOB | c.6283G>T (p.Val2095Leu) c.5869+148G>T (n.5869+148G>T) | gnomAD v4 |
| 2 | g.21010585C= | CA2493476761 | APOB | c.6283G= (p.Val2095=) c.5869+148G= (n.5869+148G=) | |
| 2 | g.21010585C>G | CA346002104 | APOB | c.6283G>C (p.Val2095Leu) c.5869+148G>C (n.5869+148G>C) | ClinVar gnomAD v4 |
| 2 | g.21010585C>T | CA063074 | APOB | c.6283G>A (p.Val2095Ile) c.5869+148G>A (n.5869+148G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21010586G>A | CA063069 | APOB | c.6282C>T (p.Asn2094=) c.5869+147C>T (n.5869+147C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010586G>C | CA346002106 | APOB | c.6282C>G (p.Asn2094Lys) c.5869+147C>G (n.5869+147C>G) | |
| 2 | g.21010586G= | CA2493476762 | APOB | c.6282C= (p.Asn2094=) c.5869+147C= (n.5869+147C=) | |
| 2 | g.21010586G>T | CA346002105 | APOB | c.6282C>A (p.Asn2094Lys) c.5869+147C>A (n.5869+147C>A) | dbSNP |
| 2 | g.21010587T>A | CA346002107 | APOB | c.6281A>T (p.Asn2094Ile) c.5869+146A>T (n.5869+146A>T) | |
| 2 | g.21010587T>C | CA346002108 | APOB | c.6281A>G (p.Asn2094Ser) c.5869+146A>G (n.5869+146A>G) | |
| 2 | g.21010587T>G | CA346002109 | APOB | c.6281A>C (p.Asn2094Thr) c.5869+146A>C (n.5869+146A>C) | |
| 2 | g.21010588T>A | CA346002110 | APOB | c.6280A>T (p.Asn2094Tyr) c.5869+145A>T (n.5869+145A>T) | |
| 2 | g.21010588T>C | CA346002111 | APOB | c.6280A>G (p.Asn2094Asp) c.5869+145A>G (n.5869+145A>G) | |
| 2 | g.21010588T>G | CA346002112 | APOB | c.6280A>C (p.Asn2094His) c.5869+145A>C (n.5869+145A>C) | |
| 2 | g.21010589T>A | CA346002113 | APOB | c.6279A>T (p.Glu2093Asp) c.5869+144A>T (n.5869+144A>T) | |
| 2 | g.21010589T>C | CA425345788 | APOB | c.6279A>G (p.Glu2093=) c.5869+144A>G (n.5869+144A>G) | |
| 2 | g.21010589T>G | CA346002114 | APOB | c.6279A>C (p.Glu2093Asp) c.5869+144A>C (n.5869+144A>C) | |
| 2 | g.21010590T>A | CA346002115 | APOB | c.6278A>T (p.Glu2093Val) c.5869+143A>T (n.5869+143A>T) | |
| 2 | g.21010590T>C | CA346002116 | APOB | c.6278A>G (p.Glu2093Gly) c.5869+143A>G (n.5869+143A>G) | |
| 2 | g.21010590T>G | CA346002117 | APOB | c.6278A>C (p.Glu2093Ala) c.5869+143A>C (n.5869+143A>C) | |
| 2 | g.21010591C>A | CA346002120 | APOB | c.6277G>T (p.Glu2093Ter) c.5869+142G>T (n.5869+142G>T) | dbSNP |
| 2 | g.21010591C= | CA2493476763 | APOB | c.6277G= (p.Glu2093=) c.5869+142G= (n.5869+142G=) | |
| 2 | g.21010591C>G | CA346002118 | APOB | c.6277G>C (p.Glu2093Gln) c.5869+142G>C (n.5869+142G>C) | |
| 2 | g.21010591C>T | CA346002119 | APOB | c.6277G>A (p.Glu2093Lys) c.5869+142G>A (n.5869+142G>A) | gnomAD v4 |
| 2 | g.21010592C>A | CA425345792 | APOB | c.6276G>T (p.Leu2092=) c.5869+141G>T (n.5869+141G>T) | |
| 2 | g.21010592C= | CA2493476764 | APOB | c.6276G= (p.Leu2092=) c.5869+141G= (n.5869+141G=) | |
| 2 | g.21010592C>G | CA425345793 | APOB | c.6276G>C (p.Leu2092=) c.5869+141G>C (n.5869+141G>C) | |
| 2 | g.21010592C>T | CA43505508 | APOB | c.6276G>A (p.Leu2092=) c.5869+141G>A (n.5869+141G>A) | dbSNP |
| 2 | g.21010593A>C | CA346002123 | APOB | c.6275T>G (p.Leu2092Arg) c.5869+140T>G (n.5869+140T>G) | |
| 2 | g.21010593A>G | CA346002121 | APOB | c.6275T>C (p.Leu2092Pro) c.5869+140T>C (n.5869+140T>C) | gnomAD v4 |
| 2 | g.21010593A>T | CA346002122 | APOB | c.6275T>A (p.Leu2092Gln) c.5869+140T>A (n.5869+140T>A) | |
| 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) | 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.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.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) | 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) |