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 |
|---|---|---|---|---|---|
| 17 | g.66214467G>A | CA400801829 | APOH | c.968C>T (p.Pro323Leu) c.258-2279C>T | gnomAD v4 |
| 17 | g.66214467G>C | CA400801827 | APOH | c.968C>G (p.Pro323Arg) c.258-2279C>G | |
| 17 | g.66214467G>T | CA400801828 | APOH | c.968C>A (p.Pro323His) c.258-2279C>A | |
| 17 | g.66214468G>A | CA400801830 | APOH | c.967C>T (p.Pro323Ser) c.258-2280C>T | dbSNP gnomAD v4 |
| 17 | g.66214468G>C | CA400801831 | APOH | c.967C>G (p.Pro323Ala) c.258-2280C>G | gnomAD v4 |
| 17 | g.66214468G= | CA2271184990 | APOH | c.967C= (p.Pro323=) c.258-2280C= | |
| 17 | g.66214468G>T | CA400801832 | APOH | c.967C>A (p.Pro323Thr) c.258-2280C>A | |
| 17 | g.66214469G>A | CA8720224 | APOH | c.966C>T (p.Val322=) c.258-2281C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214469G>C | CA501594214 | APOH | c.966C>G (p.Val322=) c.258-2281C>G | |
| 17 | g.66214469G= | CA2271184991 | APOH | c.966C= (p.Val322=) c.258-2281C= | |
| 17 | g.66214469G>T | CA8720225 | APOH | c.966C>A (p.Val322=) c.258-2281C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214470A>C | CA400801833 | APOH | c.965T>G (p.Val322Gly) c.258-2282T>G | |
| 17 | g.66214470A>G | CA400801834 | APOH | c.965T>C (p.Val322Ala) c.258-2282T>C | |
| 17 | g.66214470A>T | CA400801835 | APOH | c.965T>A (p.Val322Asp) c.258-2282T>A | |
| 17 | g.66214471C>A | CA400801836 | APOH | c.964G>T (p.Val322Phe) c.258-2283G>T | |
| 17 | g.66214471C>G | CA400801837 | APOH | c.964G>C (p.Val322Leu) c.258-2283G>C | gnomAD v4 |
| 17 | g.66214471C>T | CA400801838 | APOH | c.964G>A (p.Val322Ile) c.258-2283G>A | |
| 17 | g.66214472T>A | CA400801839 | APOH | c.963A>T (p.Glu321Asp) c.258-2284A>T | |
| 17 | g.66214472T>C | CA501594216 | APOH | c.963A>G (p.Glu321=) c.258-2284A>G | |
| 17 | g.66214472T>G | CA400801840 | APOH | c.963A>C (p.Glu321Asp) c.258-2284A>C | |
| 17 | g.66214473T>A | CA400801841 | APOH | c.962A>T (p.Glu321Val) c.258-2285A>T | |
| 17 | g.66214473T>C | CA400801842 | APOH | c.962A>G (p.Glu321Gly) c.258-2285A>G | dbSNP |
| 17 | g.66214473T>G | CA400801843 | APOH | c.962A>C (p.Glu321Ala) c.258-2285A>C | |
| 17 | g.66214473T= | CA2271184992 | APOH | c.962A= (p.Glu321=) c.258-2285A= | |
| 17 | g.66214474C>A | CA400801844 | APOH | c.961G>T (p.Glu321Ter) c.258-2286G>T | |
| 17 | g.66214474C= | CA2271184993 | APOH | c.961G= (p.Glu321=) c.258-2286G= | |
| 17 | g.66214474C>G | CA400801845 | APOH | c.961G>C (p.Glu321Gln) c.258-2286G>C | |
| 17 | g.66214474C>T | CA8720226 | APOH | c.961G>A (p.Glu321Lys) c.258-2286G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.66214475G>A | CA8720228 | APOH | c.960C>T (p.Ile320=) c.258-2287C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214475G>C | CA400801846 | APOH | c.960C>G (p.Ile320Met) c.258-2287C>G | |
| 17 | g.66214475G= | CA2271184994 | APOH | c.960C= (p.Ile320=) c.258-2287C= | |
| 17 | g.66214475G>T | CA501594217 | APOH | c.960C>A (p.Ile320=) c.258-2287C>A | |
| 17 | g.66214475dup | CA8720227 | APOH | c.960dup (p.Glu321ArgfsTer18) c.258-2287dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214476A>C | CA400801847 | APOH | c.959T>G (p.Ile320Ser) c.258-2288T>G | |
| 17 | g.66214476A>G | CA400801848 | APOH | c.959T>C (p.Ile320Thr) c.258-2288T>C | |
| 17 | g.66214476A>T | CA400801849 | APOH | c.959T>A (p.Ile320Asn) c.258-2288T>A | |
| 17 | g.66214477T>A | CA400801851 | APOH | c.958A>T (p.Ile320Phe) c.258-2289A>T | |
| 17 | g.66214477T>C | CA8720229 | APOH | c.958A>G (p.Ile320Val) c.258-2289A>G | dbSNP ExAC gnomAD v4 |
| 17 | g.66214477T>G | CA400801850 | APOH | c.958A>C (p.Ile320Leu) c.258-2289A>C | |
| 17 | g.66214477T= | CA2271184995 | APOH | c.958A= (p.Ile320=) c.258-2289A= | |
| 17 | g.66214478A= | CA2271184996 | APOH | c.957T= (p.Thr319=) c.258-2290T= | |
| 17 | g.66214478A>C | CA501594218 | APOH | c.957T>G (p.Thr319=) c.258-2290T>G | dbSNP |
| 17 | g.66214478A>G | CA501594219 | APOH | c.957T>C (p.Thr319=) c.258-2290T>C | |
| 17 | g.66214478A>T | CA501594220 | APOH | c.957T>A (p.Thr319=) c.258-2290T>A | |
| 17 | g.66214479G>A | CA400801852 | APOH | c.956C>T (p.Thr319Ile) c.258-2291C>T | |
| 17 | g.66214479G>C | CA400801853 | APOH | c.956C>G (p.Thr319Ser) c.258-2291C>G | |
| 17 | g.66214479G>T | CA400801854 | APOH | c.956C>A (p.Thr319Asn) c.258-2291C>A | |
| 17 | g.66214479_66214488delinsGTGCCATCTA | CA2271184997 | APOH | c.947_956delinsTAGATGGCAC (p.Ile316=) c.258-2300_258-2291delinsTAGATGGCAC | |
| 17 | g.66214480T>A | CA400801855 | APOH | c.955A>T (p.Thr319Ser) c.258-2292A>T | |
| 17 | g.66214480T>C | CA400801856 | APOH | c.955A>G (p.Thr319Ala) c.258-2292A>G | |
| 17 | g.66214480T>G | CA400801857 | APOH | c.955A>C (p.Thr319Pro) c.258-2292A>C | |
| 17 | g.66214481_66214489del | CA919880639 | APOH | c.947_955del (p.Ile316_Gly318del) c.258-2300_258-2292del | dbSNP |
| 17 | g.66214481del | CA2576362393 | APOH | c.954del (p.Thr319LeufsTer24) c.258-2293del | gnomAD v4 |
| 17 | g.66214481G>A | CA293499157 | APOH | c.954C>T (p.Gly318=) c.258-2293C>T | dbSNP gnomAD v4 |
| 17 | g.66214481G>C | CA501594221 | APOH | c.954C>G (p.Gly318=) c.258-2293C>G | |
| 17 | g.66214481G= | CA2271184998 | APOH | c.954C= (p.Gly318=) c.258-2293C= | |
| 17 | g.66214481G>T | CA8720230 | APOH | c.954C>A (p.Gly318=) c.258-2293C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214482C>A | CA400801858 | APOH | c.953G>T (p.Gly318Val) c.258-2294G>T | |
| 17 | g.66214482C>G | CA400801859 | APOH | c.953G>C (p.Gly318Ala) c.258-2294G>C | |
| 17 | g.66214482C>T | CA400801860 | APOH | c.953G>A (p.Gly318Asp) c.258-2294G>A | gnomAD v4 |
| 17 | g.66214483C>A | CA400801861 | APOH | c.952G>T (p.Gly318Cys) c.258-2295G>T | |
| 17 | g.66214483C>G | CA400801862 | APOH | c.952G>C (p.Gly318Arg) c.258-2295G>C | |
| 17 | g.66214483C>T | CA400801863 | APOH | c.952G>A (p.Gly318Ser) c.258-2295G>A | COSMIC |
| 17 | g.66214484A= | CA2271184999 | APOH | c.951T= (p.Asp317=) c.258-2296T= | |
| 17 | g.66214484A>C | CA400801865 | APOH | c.951T>G (p.Asp317Glu) c.258-2296T>G | |
| 17 | g.66214484A>G | CA501594223 | APOH | c.951T>C (p.Asp317=) c.258-2296T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214484A>T | CA400801864 | APOH | c.951T>A (p.Asp317Glu) c.258-2296T>A | dbSNP gnomAD v4 COSMIC |
| 17 | g.66214484_66214494del | CA645596704 | APOH | c.941_951del (p.Gln314ArgfsTer21) c.257+2294_258-2296del | COSMIC |
| 17 | g.66214485T>A | CA400801866 | APOH | c.950A>T (p.Asp317Val) c.258-2297A>T | |
| 17 | g.66214485T>C | CA293499158 | APOH | c.950A>G (p.Asp317Gly) c.258-2297A>G | dbSNP gnomAD v4 |
| 17 | g.66214485T>G | CA400801867 | APOH | c.950A>C (p.Asp317Ala) c.258-2297A>C | COSMIC |
| 17 | g.66214485T= | CA2271185000 | APOH | c.950A= (p.Asp317=) c.258-2297A= | |
| 17 | g.66214486C>A | CA400801868 | APOH | c.949G>T (p.Asp317Tyr) c.258-2298G>T | |
| 17 | g.66214486C>G | CA400801869 | APOH | c.949G>C (p.Asp317His) c.258-2298G>C | |
| 17 | g.66214486C>T | CA400801870 | APOH | c.949G>A (p.Asp317Asn) c.258-2298G>A | |
| 17 | g.66214487T>A | CA501594224 | APOH | c.948A>T (p.Ile316=) c.258-2299A>T | |
| 17 | g.66214487T>C | CA400801871 | APOH | c.948A>G (p.Ile316Met) c.258-2299A>G | |
| 17 | g.66214487T>G | CA501594225 | APOH | c.948A>C (p.Ile316=) c.258-2299A>C | |
| 17 | g.66214488A>C | CA400801872 | APOH | c.947T>G (p.Ile316Arg) c.258-2300T>G | |
| 17 | g.66214488A>G | CA400801874 | APOH | c.947T>C (p.Ile316Thr) c.258-2300T>C | gnomAD v4 |
| 17 | g.66214488A>T | CA400801873 | APOH | c.947T>A (p.Ile316Lys) c.258-2300T>A | |
| 17 | g.66214489T>A | CA400801875 | APOH | c.946A>T (p.Ile316Leu) c.257+2299A>T | |
| 17 | g.66214489T>C | CA293499159 | APOH | c.946A>G (p.Ile316Val) c.257+2299A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214489T>G | CA400801876 | APOH | c.946A>C (p.Ile316Leu) c.257+2299A>C | dbSNP |
| 17 | g.66214489T= | CA2271185001 | APOH | c.946A= (p.Ile316=) c.257+2299A= | |
| 17 | g.66214490A>C | CA400801877 | APOH | c.945T>G (p.Cys315Trp) c.257+2298T>G | |
| 17 | g.66214490A>G | CA501594226 | APOH | c.945T>C (p.Cys315=) c.257+2298T>C | |
| 17 | g.66214490A>T | CA400801878 | APOH | c.945T>A (p.Cys315Ter) c.257+2298T>A | COSMIC |
| 17 | g.66214491C>A | CA400801880 | APOH | c.944G>T (p.Cys315Phe) c.257+2297G>T | |
| 17 | g.66214491C= | CA2271185002 | APOH | c.944G= (p.Cys315=) c.257+2297G= | |
| 17 | g.66214491C>G | CA400801881 | APOH | c.944G>C (p.Cys315Ser) c.257+2297G>C | |
| 17 | g.66214491C>T | CA400801879 | APOH | c.944G>A (p.Cys315Tyr) c.257+2297G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.66214492A>C | CA400801883 | APOH | c.943T>G (p.Cys315Gly) c.257+2296T>G | |
| 17 | g.66214492A>G | CA400801882 | APOH | c.943T>C (p.Cys315Arg) c.257+2296T>C | |
| 17 | g.66214492A>T | CA400801884 | APOH | c.943T>A (p.Cys315Ser) c.257+2296T>A | |
| 17 | g.66214493_66214496del | CA2639418311 | APOH | c.940_943del (p.Gln314ValfsTer2) c.257+2293_257+2296del | gnomAD v4 |
| 17 | g.66214493C>A | CA400801885 | APOH | c.942G>T (p.Gln314His) c.257+2295G>T | |
| 17 | g.66214493C>G | CA400801886 | APOH | c.942G>C (p.Gln314His) c.257+2295G>C | |
| 17 | g.66214493C>T | CA501594227 | APOH | c.942G>A (p.Gln314=) c.257+2295G>A | |
| 17 | g.66214494T>A | CA400801887 | APOH | c.941A>T (p.Gln314Leu) c.257+2294A>T | COSMIC |
| 17 | g.66214494T>C | CA400801889 | APOH | c.941A>G (p.Gln314Arg) c.257+2294A>G | |
| 17 | g.66214494T>G | CA400801888 | APOH | c.941A>C (p.Gln314Pro) c.257+2294A>C | |
| 17 | g.66214495G>A | CA400801890 | APOH | c.940C>T (p.Gln314Ter) c.257+2293C>T | gnomAD v4 |
| 17 | g.66214495G>C | CA400801892 | APOH | c.940C>G (p.Gln314Glu) c.257+2293C>G | gnomAD v4 |
| 17 | g.66214495G>T | CA400801891 | APOH | c.940C>A (p.Gln314Lys) c.257+2293C>A | |
| 17 | g.66214496A= | CA2271185003 | APOH | c.939T= (p.Ala313=) c.257+2292T= | |
| 17 | g.66214496A>C | CA501594229 | APOH | c.939T>G (p.Ala313=) c.257+2292T>G | |
| 17 | g.66214496A>G | CA293499160 | APOH | c.939T>C (p.Ala313=) c.257+2292T>C | dbSNP |
| 17 | g.66214496A>T | CA501594228 | APOH | c.939T>A (p.Ala313=) c.257+2292T>A | |
| 17 | g.66214497G>A | CA400801895 | APOH | c.938C>T (p.Ala313Val) c.257+2291C>T | dbSNP |
| 17 | g.66214497G>C | CA400801893 | APOH | c.938C>G (p.Ala313Gly) c.257+2291C>G | |
| 17 | g.66214497G= | CA2271185004 | APOH | c.938C= (p.Ala313=) c.257+2291C= | |
| 17 | g.66214497G>T | CA400801894 | APOH | c.938C>A (p.Ala313Asp) c.257+2291C>A | |
| 17 | g.66214498C>A | CA400801896 | APOH | c.937G>T (p.Ala313Ser) c.257+2290G>T | |
| 17 | g.66214498C= | CA2271185005 | APOH | c.937G= (p.Ala313=) c.257+2290G= | |
| 17 | g.66214498C>G | CA400801897 | APOH | c.937G>C (p.Ala313Pro) c.257+2290G>C | |
| 17 | g.66214498C>T | CA8720231 | APOH | c.937G>A (p.Ala313Thr) c.257+2290G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214499A>C | CA400801898 | APOH | c.936T>G (p.Asp312Glu) c.257+2289T>G | |
| 17 | g.66214499A>G | CA501594230 | APOH | c.936T>C (p.Asp312=) c.257+2289T>C | |
| 17 | g.66214499A>T | CA400801899 | APOH | c.936T>A (p.Asp312Glu) c.257+2289T>A | COSMIC |
| 17 | g.66214500T>A | CA400801900 | APOH | c.935A>T (p.Asp312Val) c.257+2288A>T | gnomAD v4 |
| 17 | g.66214500T>C | CA400801901 | APOH | c.935A>G (p.Asp312Gly) c.257+2288A>G | |
| 17 | g.66214500T>G | CA400801902 | APOH | c.935A>C (p.Asp312Ala) c.257+2288A>C | |
| 17 | g.66214501C>A | CA400801905 | APOH | c.934G>T (p.Asp312Tyr) c.257+2287G>T | dbSNP |
| 17 | g.66214501C= | CA2271185006 | APOH | c.934G= (p.Asp312=) c.257+2287G= | |
| 17 | g.66214501C>G | CA400801904 | APOH | c.934G>C (p.Asp312His) c.257+2287G>C | |
| 17 | g.66214501C>T | CA400801903 | APOH | c.934G>A (p.Asp312Asn) c.257+2287G>A | |
| 17 | g.66214502C>A | CA400801906 | APOH | c.933G>T (p.Glu311Asp) c.257+2286G>T | |
| 17 | g.66214502C>G | CA400801907 | APOH | c.933G>C (p.Glu311Asp) c.257+2286G>C | |
| 17 | g.66214502C>T | CA501594231 | APOH | c.933G>A (p.Glu311=) c.257+2286G>A | |
| 17 | g.66214503T>A | CA400801908 | APOH | c.932A>T (p.Glu311Val) c.257+2285A>T | |
| 17 | g.66214503T>C | CA400801909 | APOH | c.932A>G (p.Glu311Gly) c.257+2285A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214503T>G | CA400801910 | APOH | c.932A>C (p.Glu311Ala) c.257+2285A>C | |
| 17 | g.66214503T= | CA2271185007 | APOH | c.932A= (p.Glu311=) c.257+2285A= | |
| 17 | g.66214504C>A | CA400801911 | APOH | c.931G>T (p.Glu311Ter) c.257+2284G>T | COSMIC |
| 17 | g.66214504C= | CA2271185008 | APOH | c.931G= (p.Glu311=) c.257+2284G= | |
| 17 | g.66214504C>G | CA400801912 | APOH | c.931G>C (p.Glu311Gln) c.257+2284G>C | |
| 17 | g.66214504C>T | CA8720232 | APOH | c.931G>A (p.Glu311Lys) c.257+2284G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214505T>A | CA501594232 | APOH | c.930A>T (p.Thr310=) c.257+2283A>T | |
| 17 | g.66214505T>C | CA501594233 | APOH | c.930A>G (p.Thr310=) c.257+2283A>G | |
| 17 | g.66214505T>G | CA501594234 | APOH | c.930A>C (p.Thr310=) c.257+2283A>C | |
| 17 | g.66214506G>A | CA400801913 | APOH | c.929C>T (p.Thr310Ile) c.257+2282C>T | dbSNP gnomAD v4 |
| 17 | g.66214506G>C | CA400801914 | APOH | c.929C>G (p.Thr310Arg) c.257+2282C>G | |
| 17 | g.66214506G= | CA2271185009 | APOH | c.929C= (p.Thr310=) c.257+2282C= | |
| 17 | g.66214506G>T | CA400801915 | APOH | c.929C>A (p.Thr310Lys) c.257+2282C>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214507T>A | CA400801917 | APOH | c.928A>T (p.Thr310Ser) c.257+2281A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214507T>C | CA400801918 | APOH | c.928A>G (p.Thr310Ala) c.257+2281A>G | |
| 17 | g.66214507T>G | CA400801916 | APOH | c.928A>C (p.Thr310Pro) c.257+2281A>C | |
| 17 | g.66214507T= | CA2271185010 | APOH | c.928A= (p.Thr310=) c.257+2281A= | |
| 17 | g.66214508A= | CA2271185011 | APOH | c.927T= (p.Tyr309=) c.257+2280T= | |
| 17 | g.66214508A>C | CA400801919 | APOH | c.927T>G (p.Tyr309Ter) c.257+2280T>G | |
| 17 | g.66214508A>G | CA501594235 | APOH | c.927T>C (p.Tyr309=) c.257+2280T>C | |
| 17 | g.66214508A>T | CA400801920 | APOH | c.927T>A (p.Tyr309Ter) c.257+2280T>A | dbSNP |
| 17 | g.66214509T>A | CA400801921 | APOH | c.926A>T (p.Tyr309Phe) c.257+2279A>T | |
| 17 | g.66214509T>C | CA400801922 | APOH | c.926A>G (p.Tyr309Cys) c.257+2279A>G | dbSNP gnomAD v4 COSMIC |
| 17 | g.66214509T>G | CA400801923 | APOH | c.926A>C (p.Tyr309Ser) c.257+2279A>C | dbSNP |
| 17 | g.66214509T= | CA2271185012 | APOH | c.926A= (p.Tyr309=) c.257+2279A= | |
| 17 | g.66214510A>C | CA400801924 | APOH | c.925T>G (p.Tyr309Asp) c.257+2278T>G | |
| 17 | g.66214510A>G | CA400801925 | APOH | c.925T>C (p.Tyr309His) c.257+2278T>C | |
| 17 | g.66214510A>T | CA400801926 | APOH | c.925T>A (p.Tyr309Asn) c.257+2278T>A | |
| 17 | g.66214511G>A | CA8720233 | APOH | c.924C>T (p.Ser308=) c.257+2277C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214511G>C | CA400801927 | APOH | c.924C>G (p.Ser308Arg) c.257+2277C>G | |
| 17 | g.66214511G= | CA2271185013 | APOH | c.924C= (p.Ser308=) c.257+2277C= | |
| 17 | g.66214511G>T | CA400801928 | APOH | c.924C>A (p.Ser308Arg) c.257+2277C>A | |
| 17 | g.66214512C>A | CA400801930 | APOH | c.923G>T (p.Ser308Ile) c.257+2276G>T | |
| 17 | g.66214512C>G | CA400801931 | APOH | c.923G>C (p.Ser308Thr) c.257+2276G>C | |
| 17 | g.66214512C>T | CA400801929 | APOH | c.923G>A (p.Ser308Asn) c.257+2276G>A | |
| 17 | g.66214513T>A | CA400801932 | APOH | c.922A>T (p.Ser308Cys) c.257+2275A>T | |
| 17 | g.66214513T>C | CA400801933 | APOH | c.922A>G (p.Ser308Gly) c.257+2275A>G | |
| 17 | g.66214513T>G | CA400801934 | APOH | c.922A>C (p.Ser308Arg) c.257+2275A>C | |
| 17 | g.66214514A= | CA2271185014 | APOH | c.921T= (p.Cys307=) c.257+2274T= | |
| 17 | g.66214514A>C | CA400801935 | APOH | c.921T>G (p.Cys307Trp) c.257+2274T>G | |
| 17 | g.66214514A>G | CA501594236 | APOH | c.921T>C (p.Cys307=) c.257+2274T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.66214514A>T | CA400801936 | APOH | c.921T>A (p.Cys307Ter) c.257+2274T>A | gnomAD v4 |
| 17 | g.66214515C>A | CA400801938 | APOH | c.920G>T (p.Cys307Phe) c.257+2273G>T | COSMIC |
| 17 | g.66214515C= | CA2271185015 | APOH | c.920G= (p.Cys307=) c.257+2273G= | |
| 17 | g.66214515C>G | CA400801937 | APOH | c.920G>C (p.Cys307Ser) c.257+2273G>C | gnomAD v4 |
| 17 | g.66214515C>T | CA8720234 | APOH | c.920G>A (p.Cys307Tyr) c.257+2273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.66214516A>C | CA400801939 | APOH | c.919T>G (p.Cys307Gly) c.257+2272T>G | |
| 17 | g.66214516A>G | CA400801940 | APOH | c.919T>C (p.Cys307Arg) c.257+2272T>C | gnomAD v4 |
| 17 | g.66214516A>T | CA400801941 | APOH | c.919T>A (p.Cys307Ser) c.257+2272T>A | |
| 17 | g.66214517C>A | CA400801942 | APOH | c.918G>T (p.Lys306Asn) c.257+2271G>T | gnomAD v4 |
| 17 | g.66214517C>G | CA400801943 | APOH | c.918G>C (p.Lys306Asn) c.257+2271G>C | |
| 17 | g.66214517C>T | CA501594237 | APOH | c.918G>A (p.Lys306=) c.257+2271G>A | gnomAD v4 |
| 17 | g.66214518T>A | CA400801946 | APOH | c.917A>T (p.Lys306Met) c.257+2270A>T | |
| 17 | g.66214518T>C | CA400801945 | APOH | c.917A>G (p.Lys306Arg) c.257+2270A>G | dbSNP gnomAD v4 |
| 17 | g.66214518T>G | CA400801944 | APOH | c.917A>C (p.Lys306Thr) c.257+2270A>C | |
| 17 | g.66214518T= | CA2271185016 | APOH | c.917A= (p.Lys306=) c.257+2270A= | |
| 17 | g.66214519T>A | CA400801947 | APOH | c.916A>T (p.Lys306Ter) c.257+2269A>T | |
| 17 | g.66214519T>C | CA400801948 | APOH | c.916A>G (p.Lys306Glu) c.257+2269A>G | |
| 17 | g.66214519T>G | CA400801949 | APOH | c.916A>C (p.Lys306Gln) c.257+2269A>C | |
| 17 | g.66214520C>A | CA400801950 | APOH | c.915G>T (p.Lys305Asn) c.257+2268G>T | dbSNP |
| 17 | g.66214520C= | CA2271185017 | APOH | c.915G= (p.Lys305=) c.257+2268G= | |
| 17 | g.66214520C>G | CA400801951 | APOH | c.915G>C (p.Lys305Asn) c.257+2268G>C | dbSNP gnomAD v4 |
| 17 | g.66214520C>T | CA501594238 | APOH | c.915G>A (p.Lys305=) c.257+2268G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214521T>A | CA400801952 | APOH | c.914A>T (p.Lys305Met) c.257+2267A>T | |
| 17 | g.66214521T>C | CA400801953 | APOH | c.914A>G (p.Lys305Arg) c.257+2267A>G | |
| 17 | g.66214521T>G | CA400801954 | APOH | c.914A>C (p.Lys305Thr) c.257+2267A>C | |
| 17 | g.66214522T>A | CA400801955 | APOH | c.913A>T (p.Lys305Ter) c.257+2266A>T | dbSNP |
| 17 | g.66214522T>C | CA400801956 | APOH | c.913A>G (p.Lys305Glu) c.257+2266A>G | |
| 17 | g.66214522T>G | CA400801957 | APOH | c.913A>C (p.Lys305Gln) c.257+2266A>C | |
| 17 | g.66214522T= | CA2271185018 | APOH | c.913A= (p.Lys305=) c.257+2266A= | |
| 17 | g.66214523T>A | CA400801958 | APOH | c.912A>T (p.Glu304Asp) c.257+2265A>T | |
| 17 | g.66214523T>C | CA501594239 | APOH | c.912A>G (p.Glu304=) c.257+2265A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214523T>G | CA293499161 | APOH | c.912A>C (p.Glu304Asp) c.257+2265A>C | dbSNP |
| 17 | g.66214523T= | CA2271185019 | APOH | c.912A= (p.Glu304=) c.257+2265A= | |
| 17 | g.66214524T>A | CA400801961 | APOH | c.911A>T (p.Glu304Val) c.257+2264A>T | |
| 17 | g.66214524T>C | CA400801960 | APOH | c.911A>G (p.Glu304Gly) c.257+2264A>G | |
| 17 | g.66214524T>G | CA400801959 | APOH | c.911A>C (p.Glu304Ala) c.257+2264A>C | gnomAD v4 |
| 17 | g.66214525C>A | CA400801962 | APOH | c.910G>T (p.Glu304Ter) c.257+2263G>T | |
| 17 | g.66214525C>G | CA400801963 | APOH | c.910G>C (p.Glu304Gln) c.257+2263G>C | |
| 17 | g.66214525C>T | CA400801964 | APOH | c.910G>A (p.Glu304Lys) c.257+2263G>A | COSMIC |
| 17 | g.66214526C>A | CA400801965 | APOH | c.909G>T (p.Lys303Asn) c.257+2262G>T | |
| 17 | g.66214526C>G | CA400801966 | APOH | c.909G>C (p.Lys303Asn) c.257+2262G>C | |
| 17 | g.66214526C>T | CA501594240 | APOH | c.909G>A (p.Lys303=) c.257+2262G>A | gnomAD v4 |
| 17 | g.66214527T>A | CA400801967 | APOH | c.908A>T (p.Lys303Met) c.257+2261A>T | |
| 17 | g.66214527T>C | CA400801968 | APOH | c.908A>G (p.Lys303Arg) c.257+2261A>G | |
| 17 | g.66214527T>G | CA400801969 | APOH | c.908A>C (p.Lys303Thr) c.257+2261A>C | |
| 17 | g.66214528T>A | CA400801970 | APOH | c.907A>T (p.Lys303Ter) c.257+2260A>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.66214528T>C | CA400801971 | APOH | c.907A>G (p.Lys303Glu) c.257+2260A>G | |
| 17 | g.66214528T>G | CA8720235 | APOH | c.907A>C (p.Lys303Gln) c.257+2260A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214528T= | CA2271185020 | APOH | c.907A= (p.Lys303=) c.257+2260A= | |
| 17 | g.66214529del | CA2639418312 | APOH | c.906del (p.Asn302LysfsTer15) c.257+2259del | gnomAD v4 |
| 17 | g.66214529A= | CA2271185021 | APOH | c.906T= (p.Asn302=) c.257+2259T= | |
| 17 | g.66214529A>C | CA400801972 | APOH | c.906T>G (p.Asn302Lys) c.257+2259T>G | |
| 17 | g.66214529A>G | CA501594242 | APOH | c.906T>C (p.Asn302=) c.257+2259T>C | dbSNP COSMIC |
| 17 | g.66214529A>T | CA400801973 | APOH | c.906T>A (p.Asn302Lys) c.257+2259T>A | |
| 17 | g.66214530T>A | CA400801975 | APOH | c.905A>T (p.Asn302Ile) c.257+2258A>T | |
| 17 | g.66214530T>C | CA400801976 | APOH | c.905A>G (p.Asn302Ser) c.257+2258A>G | |
| 17 | g.66214530T>G | CA400801974 | APOH | c.905A>C (p.Asn302Thr) c.257+2258A>C | |
| 17 | g.66214531T>A | CA400801977 | APOH | c.904A>T (p.Asn302Tyr) c.257+2257A>T | |
| 17 | g.66214531T>C | CA400801978 | APOH | c.904A>G (p.Asn302Asp) c.257+2257A>G | |
| 17 | g.66214531T>G | CA400801979 | APOH | c.904A>C (p.Asn302His) c.257+2257A>C | |
| 17 | g.66214532T>A | CA400801980 | APOH | c.903A>T (p.Lys301Asn) c.257+2256A>T | |
| 17 | g.66214532T>C | CA501594243 | APOH | c.903A>G (p.Lys301=) c.257+2256A>G | |
| 17 | g.66214532T>G | CA400801981 | APOH | c.903A>C (p.Lys301Asn) c.257+2256A>C | |
| 17 | g.66214533T>A | CA400801982 | APOH | c.902A>T (p.Lys301Ile) c.257+2255A>T | |
| 17 | g.66214533T>C | CA400801983 | APOH | c.902A>G (p.Lys301Arg) c.257+2255A>G | |
| 17 | g.66214533T>G | CA400801984 | APOH | c.902A>C (p.Lys301Thr) c.257+2255A>C | |
| 17 | g.66214534T>A | CA400801985 | APOH | c.901A>T (p.Lys301Ter) c.257+2254A>T | |
| 17 | g.66214534T>C | CA400801986 | APOH | c.901A>G (p.Lys301Glu) c.257+2254A>G | gnomAD v4 |
| 17 | g.66214534T>G | CA400801987 | APOH | c.901A>C (p.Lys301Gln) c.257+2254A>C | |
| 17 | g.66214535G>A | CA501594244 | APOH | c.900C>T (p.Cys300=) c.257+2253C>T | |
| 17 | g.66214535G>C | CA400801988 | APOH | c.900C>G (p.Cys300Trp) c.257+2253C>G | gnomAD v4 |
| 17 | g.66214535G= | CA2271185022 | APOH | c.900C= (p.Cys300=) c.257+2253C= | |
| 17 | g.66214535G>T | CA400801989 | APOH | c.900C>A (p.Cys300Ter) c.257+2253C>A | dbSNP gnomAD v4 |
| 17 | g.66214536C>A | CA400801990 | APOH | c.899G>T (p.Cys300Phe) c.257+2252G>T | |
| 17 | g.66214536C= | CA2271185023 | APOH | c.899G= (p.Cys300=) c.257+2252G= | |
| 17 | g.66214536C>G | CA400801992 | APOH | c.899G>C (p.Cys300Ser) c.257+2252G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.66214536C>T | CA400801991 | APOH | c.899G>A (p.Cys300Tyr) c.257+2252G>A | dbSNP gnomAD v4 |
| 17 | g.66214537A= | CA2271185024 | APOH | c.898T= (p.Cys300=) c.257+2251T= | |
| 17 | g.66214537A>C | CA400801993 | APOH | c.898T>G (p.Cys300Gly) c.257+2251T>G | |
| 17 | g.66214537A>G | CA8720236 | APOH | c.898T>C (p.Cys300Arg) c.257+2251T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214537A>T | CA400801994 | APOH | c.898T>A (p.Cys300Ser) c.257+2251T>A | |
| 17 | g.66214538G>A | CA501594245 | APOH | c.897C>T (p.Phe299=) c.257+2250C>T | |
| 17 | g.66214538G>C | CA400801995 | APOH | c.897C>G (p.Phe299Leu) c.257+2250C>G | |
| 17 | g.66214538G>T | CA400801996 | APOH | c.897C>A (p.Phe299Leu) c.257+2250C>A | |
| 17 | g.66214539A>C | CA400801997 | APOH | c.896T>G (p.Phe299Cys) c.257+2249T>G | |
| 17 | g.66214539A>G | CA400801998 | APOH | c.896T>C (p.Phe299Ser) c.257+2249T>C | |
| 17 | g.66214539A>T | CA400801999 | APOH | c.896T>A (p.Phe299Tyr) c.257+2249T>A | |
| 17 | g.66214540A= | CA2271185025 | APOH | c.895T= (p.Phe299=) c.257+2248T= | |
| 17 | g.66214540A>C | CA400802000 | APOH | c.895T>G (p.Phe299Val) c.257+2248T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214540A>G | CA400802001 | APOH | c.895T>C (p.Phe299Leu) c.257+2248T>C | dbSNP gnomAD v4 |
| 17 | g.66214540A>T | CA400802002 | APOH | c.895T>A (p.Phe299Ile) c.257+2248T>A | |
| 17 | g.66214541G>A | CA501594247 | APOH | c.894C>T (p.Phe298=) c.257+2247C>T | |
| 17 | g.66214541G>C | CA400802004 | APOH | c.894C>G (p.Phe298Leu) c.257+2247C>G | gnomAD v4 |
| 17 | g.66214541G>T | CA400802003 | APOH | c.894C>A (p.Phe298Leu) c.257+2247C>A | |
| 17 | g.66214542A>C | CA400802005 | APOH | c.893T>G (p.Phe298Cys) c.257+2246T>G | |
| 17 | g.66214542A>G | CA400802007 | APOH | c.893T>C (p.Phe298Ser) c.257+2246T>C | |
| 17 | g.66214542A>T | CA400802006 | APOH | c.893T>A (p.Phe298Tyr) c.257+2246T>A | |
| 17 | g.66214543A= | CA2271185026 | APOH | c.892T= (p.Phe298=) c.257+2245T= | |
| 17 | g.66214543A>C | CA400802008 | APOH | c.892T>G (p.Phe298Val) c.257+2245T>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.66214543A>G | CA400802009 | APOH | c.892T>C (p.Phe298Leu) c.257+2245T>C | |
| 17 | g.66214543A>T | CA400802010 | APOH | c.892T>A (p.Phe298Ile) c.257+2245T>A | |
| 17 | g.66214544A= | CA2271185027 | APOH | c.891T= (p.Ser297=) c.257+2244T= | |
| 17 | g.66214544A>C | CA501594248 | APOH | c.891T>G (p.Ser297=) c.257+2244T>G | |
| 17 | g.66214544A>G | CA8720237 | APOH | c.891T>C (p.Ser297=) c.257+2244T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214544A>T | CA501594249 | APOH | c.891T>A (p.Ser297=) c.257+2244T>A | |
| 17 | g.66214545G>A | CA400802011 | APOH | c.890C>T (p.Ser297Phe) c.257+2243C>T | |
| 17 | g.66214545G>C | CA400802012 | APOH | c.890C>G (p.Ser297Cys) c.257+2243C>G | |
| 17 | g.66214545G>T | CA400802013 | APOH | c.890C>A (p.Ser297Tyr) c.257+2243C>A | |
| 17 | g.66214546A= | CA2271185028 | APOH | c.889T= (p.Ser297=) c.257+2242T= | |
| 17 | g.66214546A>C | CA400802014 | APOH | c.889T>G (p.Ser297Ala) c.257+2242T>G | |
| 17 | g.66214546A>G | CA400802015 | APOH | c.889T>C (p.Ser297Pro) c.257+2242T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214546A>T | CA400802016 | APOH | c.889T>A (p.Ser297Thr) c.257+2242T>A | |
| 17 | g.66214547A>C | CA501594251 | APOH | c.888T>G (p.Val296=) c.257+2241T>G | |
| 17 | g.66214547A>G | CA501594252 | APOH | c.888T>C (p.Val296=) c.257+2241T>C | |
| 17 | g.66214547A>T | CA501594253 | APOH | c.888T>A (p.Val296=) c.257+2241T>A | |
| 17 | g.66214548A= | CA2271185029 | APOH | c.887T= (p.Val296=) c.257+2240T= | |
| 17 | g.66214548A>C | CA400802017 | APOH | c.887T>G (p.Val296Gly) c.257+2240T>G | |
| 17 | g.66214548A>G | CA400802018 | APOH | c.887T>C (p.Val296Ala) c.257+2240T>C | dbSNP |
| 17 | g.66214548A>T | CA400802019 | APOH | c.887T>A (p.Val296Asp) c.257+2240T>A | |
| 17 | g.66214549C>A | CA400802022 | APOH | c.886G>T (p.Val296Phe) c.257+2239G>T | |
| 17 | g.66214549C= | CA2271185030 | APOH | c.886G= (p.Val296=) c.257+2239G= | |
| 17 | g.66214549C>G | CA400802021 | APOH | c.886G>C (p.Val296Leu) c.257+2239G>C | gnomAD v4 |
| 17 | g.66214549C>T | CA400802020 | APOH | c.886G>A (p.Val296Ile) c.257+2239G>A | dbSNP gnomAD v4 COSMIC |
| 17 | g.66214550T>A | CA400802023 | APOH | c.885A>T (p.Lys295Asn) c.257+2238A>T | |
| 17 | g.66214550T>C | CA501594254 | APOH | c.885A>G (p.Lys295=) c.257+2238A>G | |
| 17 | g.66214550T>G | CA400802024 | APOH | c.885A>C (p.Lys295Asn) c.257+2238A>C | |
| 17 | g.66214551T>A | CA400802025 | APOH | c.884A>T (p.Lys295Ile) c.257+2237A>T | |
| 17 | g.66214551T>C | CA400802026 | APOH | c.884A>G (p.Lys295Arg) c.257+2237A>G | |
| 17 | g.66214551T>G | CA400802027 | APOH | c.884A>C (p.Lys295Thr) c.257+2237A>C | |
| 17 | g.66214552T>A | CA400802028 | APOH | c.883A>T (p.Lys295Ter) c.257+2236A>T | |
| 17 | g.66214552T>C | CA400802029 | APOH | c.883A>G (p.Lys295Glu) c.257+2236A>G | |
| 17 | g.66214552T>G | CA400802030 | APOH | c.883A>C (p.Lys295Gln) c.257+2236A>C | |
| 17 | g.66214553A>C | CA400802031 | APOH | c.882T>G (p.Asp294Glu) c.257+2235T>G | |
| 17 | g.66214553A>G | CA501594255 | APOH | c.882T>C (p.Asp294=) c.257+2235T>C | |
| 17 | g.66214553A>T | CA400802032 | APOH | c.882T>A (p.Asp294Glu) c.257+2235T>A | |
| 17 | g.66214554T>A | CA400802033 | APOH | c.881A>T (p.Asp294Val) c.257+2234A>T | dbSNP |
| 17 | g.66214554T>C | CA400802034 | APOH | c.881A>G (p.Asp294Gly) c.257+2234A>G | |
| 17 | g.66214554T>G | CA400802035 | APOH | c.881A>C (p.Asp294Ala) c.257+2234A>C | |
| 17 | g.66214554T= | CA2271185031 | APOH | c.881A= (p.Asp294=) c.257+2234A= | |
| 17 | g.66214555C>A | CA400802037 | APOH | c.880G>T (p.Asp294Tyr) c.257+2233G>T | |
| 17 | g.66214555C>G | CA400802038 | APOH | c.880G>C (p.Asp294His) c.257+2233G>C | |
| 17 | g.66214555C>T | CA400802036 | APOH | c.880G>A (p.Asp294Asn) c.257+2233G>A | |
| 17 | g.66214556A>C | CA501594256 | APOH | c.879T>G (p.Gly293=) c.257+2232T>G | |
| 17 | g.66214556A>G | CA501594257 | APOH | c.879T>C (p.Gly293=) c.257+2232T>C | |
| 17 | g.66214556A>T | CA501594258 | APOH | c.879T>A (p.Gly293=) c.257+2232T>A | |
| 17 | g.66214557C>A | CA400802039 | APOH | c.878G>T (p.Gly293Val) c.257+2231G>T | gnomAD v4 |
| 17 | g.66214557C>G | CA400802040 | APOH | c.878G>C (p.Gly293Ala) c.257+2231G>C | |
| 17 | g.66214557C>T | CA400802041 | APOH | c.878G>A (p.Gly293Asp) c.257+2231G>A | |
| 17 | g.66214558C>A | CA400802042 | APOH | c.877G>T (p.Gly293Cys) c.257+2230G>T | |
| 17 | g.66214558C>G | CA400802043 | APOH | c.877G>C (p.Gly293Arg) c.257+2230G>C | |
| 17 | g.66214558C>T | CA400802044 | APOH | c.877G>A (p.Gly293Ser) c.257+2230G>A | |
| 17 | g.66214559A>C | CA400802045 | APOH | c.876T>G (p.His292Gln) c.257+2229T>G | |
| 17 | g.66214559A>G | CA501594260 | APOH | c.876T>C (p.His292=) c.257+2229T>C | |
| 17 | g.66214559A>T | CA400802046 | APOH | c.876T>A (p.His292Gln) c.257+2229T>A | |
| 17 | g.66214560T>A | CA400802047 | APOH | c.875A>T (p.His292Leu) c.257+2228A>T | |
| 17 | g.66214560T>C | CA400802048 | APOH | c.875A>G (p.His292Arg) c.257+2228A>G | dbSNP gnomAD v4 |
| 17 | g.66214560T>G | CA400802049 | APOH | c.875A>C (p.His292Pro) c.257+2228A>C | gnomAD v4 |
| 17 | g.66214560T= | CA2271185032 | APOH | c.875A= (p.His292=) c.257+2228A= | |
| 17 | g.66214561G>A | CA400802051 | APOH | c.874C>T (p.His292Tyr) c.257+2227C>T | dbSNP gnomAD v4 |
| 17 | g.66214561G>C | CA8720238 | APOH | c.874C>G (p.His292Asp) c.257+2227C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.66214561G= | CA2271185033 | APOH | c.874C= (p.His292=) c.257+2227C= | |
| 17 | g.66214561G>T | CA400802050 | APOH | c.874C>A (p.His292Asn) c.257+2227C>A | |
| 17 | g.66214562T>A | CA501594261 | APOH | c.873A>T (p.Leu291=) c.257+2226A>T | |
| 17 | g.66214562T>C | CA293499162 | APOH | c.873A>G (p.Leu291=) c.257+2226A>G | dbSNP |
| 17 | g.66214562T>G | CA501594262 | APOH | c.873A>C (p.Leu291=) c.257+2226A>C | |
| 17 | g.66214562T= | CA2271185034 | APOH | c.873A= (p.Leu291=) c.257+2226A= | |
| 17 | g.66214563A>C | CA400802052 | APOH | c.872T>G (p.Leu291Arg) c.257+2225T>G | |
| 17 | g.66214563A>G | CA400802053 | APOH | c.872T>C (p.Leu291Pro) c.257+2225T>C | gnomAD v4 |
| 17 | g.66214563A>T | CA400802054 | APOH | c.872T>A (p.Leu291Gln) c.257+2225T>A | |
| 17 | g.66214564G>A | CA501594263 | APOH | c.871C>T (p.Leu291=) c.257+2224C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214564G>C | CA400802055 | APOH | c.871C>G (p.Leu291Val) c.257+2224C>G | |
| 17 | g.66214564G= | CA2271185035 | APOH | c.871C= (p.Leu291=) c.257+2224C= | |
| 17 | g.66214564G>T | CA400802056 | APOH | c.871C>A (p.Leu291Ile) c.257+2224C>A | |
| 17 | g.66214565C>A | CA293499163 | APOH | c.870G>T (p.Met290Ile) c.257+2223G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.66214565C= | CA2271185036 | APOH | c.870G= (p.Met290=) c.257+2223G= | |
| 17 | g.66214565C>G | CA400802057 | APOH | c.870G>C (p.Met290Ile) c.257+2223G>C | |
| 17 | g.66214565C>T | CA400802058 | APOH | c.870G>A (p.Met290Ile) c.257+2223G>A | |
| 17 | g.66214566A= | CA2271185037 | APOH | c.869T= (p.Met290=) c.257+2222T= | |
| 17 | g.66214566A>C | CA400802059 | APOH | c.869T>G (p.Met290Arg) c.257+2222T>G | |
| 17 | g.66214566A>G | CA400802060 | APOH | c.869T>C (p.Met290Thr) c.257+2222T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.66214566A>T | CA400802061 | APOH | c.869T>A (p.Met290Lys) c.257+2222T>A | |
| 17 | g.66214567T>A | CA400802064 | APOH | c.868A>T (p.Met290Leu) c.257+2221A>T | |
| 17 | g.66214567T>C | CA400802063 | APOH | c.868A>G (p.Met290Val) c.257+2221A>G | gnomAD v4 |
| 17 | g.66214567T>G | CA400802062 | APOH | c.868A>C (p.Met290Leu) c.257+2221A>C |