Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010139_21010142delinsACTT | CA2493476562 | APOB | c.6726_6729delinsAAGT (p.Gly2242=) c.5869+591_5869+594delinsAAGT (n.5869+591_5869+594delinsAAGT) | |
2 | g.21010140C>A | CA346000861 | APOB | c.6728G>T (p.Ser2243Ile) c.5869+593G>T (n.5869+593G>T) | dbSNP |
2 | g.21010140C= | CA2493476563 | APOB | c.6728G= (p.Ser2243=) c.5869+593G= (n.5869+593G=) | |
2 | g.21010140C>G | CA346000862 | APOB | c.6728G>C (p.Ser2243Thr) c.5869+593G>C (n.5869+593G>C) | gnomAD v4 |
2 | g.21010140C>T | CA346000863 | APOB | c.6728G>A (p.Ser2243Asn) c.5869+593G>A (n.5869+593G>A) | |
2 | g.21010141_21010143del | CA645372282 | APOB | c.6726_6728del (p.Ser2243del) c.5869+591_5869+593del (n.5869+591_5869+593del) | dbSNP |
2 | g.21010141T>A | CA346000864 | APOB | c.6727A>T (p.Ser2243Cys) c.5869+592A>T (n.5869+592A>T) | |
2 | g.21010141T>C | CA346000865 | APOB | c.6727A>G (p.Ser2243Gly) c.5869+592A>G (n.5869+592A>G) | gnomAD v4 |
2 | g.21010141T>G | CA346000866 | APOB | c.6727A>C (p.Ser2243Arg) c.5869+592A>C (n.5869+592A>C) | |
2 | g.21010142T>A | CA425345482 | APOB | c.6726A>T (p.Gly2242=) c.5869+591A>T (n.5869+591A>T) | |
2 | g.21010142T>C | CA425345484 | APOB | c.6726A>G (p.Gly2242=) c.5869+591A>G (n.5869+591A>G) | |
2 | g.21010142T>G | CA425345483 | APOB | c.6726A>C (p.Gly2242=) c.5869+591A>C (n.5869+591A>C) | |
2 | g.21010143C>A | CA346000867 | APOB | c.6725G>T (p.Gly2242Val) c.5869+590G>T (n.5869+590G>T) | |
2 | g.21010143C= | CA2493476564 | APOB | c.6725G= (p.Gly2242=) c.5869+590G= (n.5869+590G=) | |
2 | g.21010143C>G | CA346000868 | APOB | c.6725G>C (p.Gly2242Ala) c.5869+590G>C (n.5869+590G>C) | dbSNP |
2 | g.21010143C>T | CA43505010 | APOB | c.6725G>A (p.Gly2242Glu) c.5869+590G>A (n.5869+590G>A) | dbSNP COSMIC |
2 | g.21010144C>A | CA346000869 | APOB | c.6724G>T (p.Gly2242Ter) c.5869+589G>T (n.5869+589G>T) | gnomAD v4 |
2 | g.21010144C= | CA2493476565 | APOB | c.6724G= (p.Gly2242=) c.5869+589G= (n.5869+589G=) | |
2 | g.21010144C>G | CA346000870 | APOB | c.6724G>C (p.Gly2242Arg) c.5869+589G>C (n.5869+589G>C) | gnomAD v4 |
2 | g.21010144C>T | CA346000871 | APOB | c.6724G>A (p.Gly2242Arg) c.5869+589G>A (n.5869+589G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010145A>C | CA346000872 | APOB | c.6723T>G (p.Ser2241Arg) c.5869+588T>G (n.5869+588T>G) | |
2 | g.21010145A>G | CA425345485 | APOB | c.6723T>C (p.Ser2241=) c.5869+588T>C (n.5869+588T>C) | |
2 | g.21010145A>T | CA346000873 | APOB | c.6723T>A (p.Ser2241Arg) c.5869+588T>A (n.5869+588T>A) | |
2 | g.21010145_21010146delinsAC | CA2493476566 | APOB | c.6722_6723delinsGT (p.Ser2241=) c.5869+587_5869+588delinsGT (n.5869+587_5869+588delinsGT) | |
2 | g.21010146del | CA531312746 | APOB | c.6722del (p.Ser2241MetfsTer?) c.5869+587del (n.5869+587del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010146C>A | CA43505016 | APOB | c.6722G>T (p.Ser2241Ile) c.5869+587G>T (n.5869+587G>T) | dbSNP |
2 | g.21010146C= | CA2493476567 | APOB | c.6722G= (p.Ser2241=) c.5869+587G= (n.5869+587G=) | |
2 | g.21010146C>G | CA346000874 | APOB | c.6722G>C (p.Ser2241Thr) c.5869+587G>C (n.5869+587G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010146C>T | CA346000875 | APOB | c.6722G>A (p.Ser2241Asn) c.5869+587G>A (n.5869+587G>A) | |
2 | g.21010147T>A | CA346000876 | APOB | c.6721A>T (p.Ser2241Cys) c.5869+586A>T (n.5869+586A>T) | |
2 | g.21010147T>C | CA346000877 | APOB | c.6721A>G (p.Ser2241Gly) c.5869+586A>G (n.5869+586A>G) | |
2 | g.21010147T>G | CA346000878 | APOB | c.6721A>C (p.Ser2241Arg) c.5869+586A>C (n.5869+586A>C) | |
2 | g.21010148T>A | CA346000879 | APOB | c.6720A>T (p.Lys2240Asn) c.5869+585A>T (n.5869+585A>T) | |
2 | g.21010148T>C | CA425345488 | APOB | c.6720A>G (p.Lys2240=) c.5869+585A>G (n.5869+585A>G) | |
2 | g.21010148T>G | CA346000880 | APOB | c.6720A>C (p.Lys2240Asn) c.5869+585A>C (n.5869+585A>C) | |
2 | g.21010149T>A | CA346000881 | APOB | c.6719A>T (p.Lys2240Ile) c.5869+584A>T (n.5869+584A>T) | |
2 | g.21010149T>C | CA346000883 | APOB | c.6719A>G (p.Lys2240Arg) c.5869+584A>G (n.5869+584A>G) | |
2 | g.21010149T>G | CA346000882 | APOB | c.6719A>C (p.Lys2240Thr) c.5869+584A>C (n.5869+584A>C) | ClinVar dbSNP |
2 | g.21010149T= | CA2493476568 | APOB | c.6719A= (p.Lys2240=) c.5869+584A= (n.5869+584A=) | |
2 | g.21010150T>A | CA346000884 | APOB | c.6718A>T (p.Lys2240Ter) c.5869+583A>T (n.5869+583A>T) | |
2 | g.21010150T>C | CA346000885 | APOB | c.6718A>G (p.Lys2240Glu) c.5869+583A>G (n.5869+583A>G) | |
2 | g.21010150T>G | CA346000886 | APOB | c.6718A>C (p.Lys2240Gln) c.5869+583A>C (n.5869+583A>C) | COSMIC |
2 | g.21010151G>A | CA425345492 | APOB | c.6717C>T (p.Asn2239=) c.5869+582C>T (n.5869+582C>T) | |
2 | g.21010151G>C | CA346000887 | APOB | c.6717C>G (p.Asn2239Lys) c.5869+582C>G (n.5869+582C>G) | |
2 | g.21010151G>T | CA346000888 | APOB | c.6717C>A (p.Asn2239Lys) c.5869+582C>A (n.5869+582C>A) | |
2 | g.21010152T>A | CA346000889 | APOB | c.6716A>T (p.Asn2239Ile) c.5869+581A>T (n.5869+581A>T) | |
2 | g.21010152T>C | CA346000890 | APOB | c.6716A>G (p.Asn2239Ser) c.5869+581A>G (n.5869+581A>G) | |
2 | g.21010152T>G | CA346000891 | APOB | c.6716A>C (p.Asn2239Thr) c.5869+581A>C (n.5869+581A>C) | |
2 | g.21010153T>A | CA346000893 | APOB | c.6715A>T (p.Asn2239Tyr) c.5869+580A>T (n.5869+580A>T) | |
2 | g.21010153T>C | CA346000894 | APOB | c.6715A>G (p.Asn2239Asp) c.5869+580A>G (n.5869+580A>G) | |
2 | g.21010153T>G | CA346000896 | APOB | c.6715A>C (p.Asn2239His) c.5869+580A>C (n.5869+580A>C) | |
2 | g.21010154A>C | CA346000899 | APOB | c.6714T>G (p.Phe2238Leu) c.5869+579T>G (n.5869+579T>G) | gnomAD v4 |
2 | g.21010154A>G | CA425345495 | APOB | c.6714T>C (p.Phe2238=) c.5869+579T>C (n.5869+579T>C) | |
2 | g.21010154A>T | CA346000898 | APOB | c.6714T>A (p.Phe2238Leu) c.5869+579T>A (n.5869+579T>A) | |
2 | g.21010157dup | CA2586968873 | APOB | c.6714dup (p.Asn2239Ter) c.5869+579dup (n.5869+579dup) | |
2 | g.21010155A>C | CA346000901 | APOB | c.6713T>G (p.Phe2238Cys) c.5869+578T>G (n.5869+578T>G) | |
2 | g.21010155A>G | CA346000905 | APOB | c.6713T>C (p.Phe2238Ser) c.5869+578T>C (n.5869+578T>C) | |
2 | g.21010155A>T | CA346000903 | APOB | c.6713T>A (p.Phe2238Tyr) c.5869+578T>A (n.5869+578T>A) | |
2 | g.21010156A>C | CA346000907 | APOB | c.6712T>G (p.Phe2238Val) c.5869+577T>G (n.5869+577T>G) | |
2 | g.21010156A>G | CA346000909 | APOB | c.6712T>C (p.Phe2238Leu) c.5869+577T>C (n.5869+577T>C) | |
2 | g.21010156A>T | CA346000911 | APOB | c.6712T>A (p.Phe2238Ile) c.5869+577T>A (n.5869+577T>A) | gnomAD v4 |
2 | g.21010157A>C | CA346000913 | APOB | c.6711T>G (p.Asp2237Glu) c.5869+576T>G (n.5869+576T>G) | |
2 | g.21010157A>G | CA425345497 | APOB | c.6711T>C (p.Asp2237=) c.5869+576T>C (n.5869+576T>C) | |
2 | g.21010157A>T | CA346000915 | APOB | c.6711T>A (p.Asp2237Glu) c.5869+576T>A (n.5869+576T>A) | |
2 | g.21010158T>A | CA346000917 | APOB | c.6710A>T (p.Asp2237Val) c.5869+575A>T (n.5869+575A>T) | |
2 | g.21010158T>C | CA346000918 | APOB | c.6710A>G (p.Asp2237Gly) c.5869+575A>G (n.5869+575A>G) | |
2 | g.21010158T>G | CA346000920 | APOB | c.6710A>C (p.Asp2237Ala) c.5869+575A>C (n.5869+575A>C) | |
2 | g.21010159C>A | CA346000921 | APOB | c.6709G>T (p.Asp2237Tyr) c.5869+574G>T (n.5869+574G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010159C= | CA2493476569 | APOB | c.6709G= (p.Asp2237=) c.5869+574G= (n.5869+574G=) | |
2 | g.21010159C>G | CA346000923 | APOB | c.6709G>C (p.Asp2237His) c.5869+574G>C (n.5869+574G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010159C>T | CA346000925 | APOB | c.6709G>A (p.Asp2237Asn) c.5869+574G>A (n.5869+574G>A) | |
2 | g.21010160A= | CA2493476570 | APOB | c.6708T= (p.Ile2236=) c.5869+573T= (n.5869+573T=) | |
2 | g.21010160A>C | CA346000927 | APOB | c.6708T>G (p.Ile2236Met) c.5869+573T>G (n.5869+573T>G) | |
2 | g.21010160A>G | CA425345501 | APOB | c.6708T>C (p.Ile2236=) c.5869+573T>C (n.5869+573T>C) | |
2 | g.21010160A>T | CA43505017 | APOB | c.6708T>A (p.Ile2236=) c.5869+573T>A (n.5869+573T>A) | dbSNP |
2 | g.21010161A= | CA2493476571 | APOB | c.6707T= (p.Ile2236=) c.5869+572T= (n.5869+572T=) | |
2 | g.21010161A>C | CA346000931 | APOB | c.6707T>G (p.Ile2236Ser) c.5869+572T>G (n.5869+572T>G) | |
2 | g.21010161A>G | CA063461 | APOB | c.6707T>C (p.Ile2236Thr) c.5869+572T>C (n.5869+572T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010161A>T | CA346000933 | APOB | c.6707T>A (p.Ile2236Asn) c.5869+572T>A (n.5869+572T>A) | |
2 | g.21010162T>A | CA346000936 | APOB | c.6706A>T (p.Ile2236Phe) c.5869+571A>T (n.5869+571A>T) | |
2 | g.21010162T>C | CA346000938 | APOB | c.6706A>G (p.Ile2236Val) c.5869+571A>G (n.5869+571A>G) | |
2 | g.21010162T>G | CA346000939 | APOB | c.6706A>C (p.Ile2236Leu) c.5869+571A>C (n.5869+571A>C) | |
2 | g.21010163A>C | CA346000941 | APOB | c.6705T>G (p.Asn2235Lys) c.5869+570T>G (n.5869+570T>G) | |
2 | g.21010163A>G | CA425345508 | APOB | c.6705T>C (p.Asn2235=) c.5869+570T>C (n.5869+570T>C) | |
2 | g.21010163A>T | CA346000943 | APOB | c.6705T>A (p.Asn2235Lys) c.5869+570T>A (n.5869+570T>A) | |
2 | g.21010164T>A | CA346000945 | APOB | c.6704A>T (p.Asn2235Ile) c.5869+569A>T (n.5869+569A>T) | |
2 | g.21010164T>C | CA346000947 | APOB | c.6704A>G (p.Asn2235Ser) c.5869+569A>G (n.5869+569A>G) | |
2 | g.21010164T>G | CA346000949 | APOB | c.6704A>C (p.Asn2235Thr) c.5869+569A>C (n.5869+569A>C) | |
2 | g.21010165T>A | CA346000951 | APOB | c.6703A>T (p.Asn2235Tyr) c.5869+568A>T (n.5869+568A>T) | |
2 | g.21010165T>C | CA346000953 | APOB | c.6703A>G (p.Asn2235Asp) c.5869+568A>G (n.5869+568A>G) | |
2 | g.21010165T>G | CA346000955 | APOB | c.6703A>C (p.Asn2235His) c.5869+568A>C (n.5869+568A>C) | |
2 | g.21010166T>A | CA346000959 | APOB | c.6702A>T (p.Glu2234Asp) c.5869+567A>T (n.5869+567A>T) | |
2 | g.21010166T>C | CA425345513 | APOB | c.6702A>G (p.Glu2234=) c.5869+567A>G (n.5869+567A>G) | |
2 | g.21010166T>G | CA346000957 | APOB | c.6702A>C (p.Glu2234Asp) c.5869+567A>C (n.5869+567A>C) | |
2 | g.21010167T>A | CA346000961 | APOB | c.6701A>T (p.Glu2234Val) c.5869+566A>T (n.5869+566A>T) | |
2 | g.21010167T>C | CA346000963 | APOB | c.6701A>G (p.Glu2234Gly) c.5869+566A>G (n.5869+566A>G) | |
2 | g.21010167T>G | CA346000965 | APOB | c.6701A>C (p.Glu2234Ala) c.5869+566A>C (n.5869+566A>C) | |
2 | g.21010168C>A | CA346000967 | APOB | c.6700G>T (p.Glu2234Ter) c.5869+565G>T (n.5869+565G>T) | |
2 | g.21010168C>G | CA346000969 | APOB | c.6700G>C (p.Glu2234Gln) c.5869+565G>C (n.5869+565G>C) | |
2 | g.21010168C>T | CA346000971 | APOB | c.6700G>A (p.Glu2234Lys) c.5869+565G>A (n.5869+565G>A) | |
2 | g.21010169A= | CA2493476572 | APOB | c.6699T= (p.Ile2233=) c.5869+564T= (n.5869+564T=) | |
2 | g.21010169A>C | CA346000972 | APOB | c.6699T>G (p.Ile2233Met) c.5869+564T>G (n.5869+564T>G) | dbSNP gnomAD v4 |
2 | g.21010169A>G | CA425345518 | APOB | c.6699T>C (p.Ile2233=) c.5869+564T>C (n.5869+564T>C) | |
2 | g.21010169A>T | CA425345517 | APOB | c.6699T>A (p.Ile2233=) c.5869+564T>A (n.5869+564T>A) | |
2 | g.21010170A= | CA2493476573 | APOB | c.6698T= (p.Ile2233=) c.5869+563T= (n.5869+563T=) | |
2 | g.21010170A>C | CA346000977 | APOB | c.6698T>G (p.Ile2233Ser) c.5869+563T>G (n.5869+563T>G) | |
2 | g.21010170A>G | CA346000974 | APOB | c.6698T>C (p.Ile2233Thr) c.5869+563T>C (n.5869+563T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010170A>T | CA346000975 | APOB | c.6698T>A (p.Ile2233Asn) c.5869+563T>A (n.5869+563T>A) | |
2 | g.21010171T>A | CA346000978 | APOB | c.6697A>T (p.Ile2233Phe) c.5869+562A>T (n.5869+562A>T) | |
2 | g.21010171T>C | CA346000980 | APOB | c.6697A>G (p.Ile2233Val) c.5869+562A>G (n.5869+562A>G) | |
2 | g.21010171T>G | CA346000982 | APOB | c.6697A>C (p.Ile2233Leu) c.5869+562A>C (n.5869+562A>C) | |
2 | g.21010172A>C | CA346000984 | APOB | c.6696T>G (p.Phe2232Leu) c.5869+561T>G (n.5869+561T>G) | |
2 | g.21010172A>G | CA425345521 | APOB | c.6696T>C (p.Phe2232=) c.5869+561T>C (n.5869+561T>C) | |
2 | g.21010172A>T | CA346000986 | APOB | c.6696T>A (p.Phe2232Leu) c.5869+561T>A (n.5869+561T>A) | |
2 | g.21010173A>C | CA346000989 | APOB | c.6695T>G (p.Phe2232Cys) c.5869+560T>G (n.5869+560T>G) | |
2 | g.21010173A>G | CA346000992 | APOB | c.6695T>C (p.Phe2232Ser) c.5869+560T>C (n.5869+560T>C) | |
2 | g.21010173A>T | CA346000990 | APOB | c.6695T>A (p.Phe2232Tyr) c.5869+560T>A (n.5869+560T>A) | |
2 | g.21010174A>C | CA346000994 | APOB | c.6694T>G (p.Phe2232Val) c.5869+559T>G (n.5869+559T>G) | |
2 | g.21010174A>G | CA346000995 | APOB | c.6694T>C (p.Phe2232Leu) c.5869+559T>C (n.5869+559T>C) | gnomAD v4 |
2 | g.21010174A>T | CA346000997 | APOB | c.6694T>A (p.Phe2232Ile) c.5869+559T>A (n.5869+559T>A) | |
2 | g.21010175C>A | CA346000999 | APOB | c.6693G>T (p.Leu2231Phe) c.5869+558G>T (n.5869+558G>T) | dbSNP gnomAD v4 |
2 | g.21010175C= | CA2493476574 | APOB | c.6693G= (p.Leu2231=) c.5869+558G= (n.5869+558G=) | |
2 | g.21010175C>G | CA346001000 | APOB | c.6693G>C (p.Leu2231Phe) c.5869+558G>C (n.5869+558G>C) | gnomAD v4 |
2 | g.21010175C>T | CA425345526 | APOB | c.6693G>A (p.Leu2231=) c.5869+558G>A (n.5869+558G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010176A= | CA2493476575 | APOB | c.6692T= (p.Leu2231=) c.5869+557T= (n.5869+557T=) | |
2 | g.21010176A>C | CA346001003 | APOB | c.6692T>G (p.Leu2231Trp) c.5869+557T>G (n.5869+557T>G) | |
2 | g.21010176A>G | CA346001004 | APOB | c.6692T>C (p.Leu2231Ser) c.5869+557T>C (n.5869+557T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010176A>T | CA346001006 | APOB | c.6692T>A (p.Leu2231Ter) c.5869+557T>A (n.5869+557T>A) | |
2 | g.21010178del | CA2573130195 | APOB | c.6692del (p.Leu2231CysfsTer?) c.5869+557del (n.5869+557del) | |
2 | g.21010177A>C | CA346001008 | APOB | c.6691T>G (p.Leu2231Val) c.5869+556T>G (n.5869+556T>G) | |
2 | g.21010177A>G | CA425345528 | APOB | c.6691T>C (p.Leu2231=) c.5869+556T>C (n.5869+556T>C) | gnomAD v4 |
2 | g.21010177A>T | CA346001010 | APOB | c.6691T>A (p.Leu2231Met) c.5869+556T>A (n.5869+556T>A) | |
2 | g.21010177_21010178insCACCAAACACACCCAACAC | CA2749099706 | APOB | c.6690_6691insGTGTTGGGTGTGTTTGGTG (p.Leu2231ValfsTer10) c.5869+555_5869+556insGTGTTGGGTGTGTTTGGTG (n.5869+555_5869+556insGTGTTGGGTGTGTTTGGTG) | |
2 | g.21010178A>C | CA346001012 | APOB | c.6690T>G (p.His2230Gln) c.5869+555T>G (n.5869+555T>G) | |
2 | g.21010178A>G | CA425345530 | APOB | c.6690T>C (p.His2230=) c.5869+555T>C (n.5869+555T>C) | ClinVar gnomAD v4 |
2 | g.21010178A>T | CA346001014 | APOB | c.6690T>A (p.His2230Gln) c.5869+555T>A (n.5869+555T>A) | |
2 | g.21010179T>A | CA063452 | APOB | c.6689A>T (p.His2230Leu) c.5869+554A>T (n.5869+554A>T) | dbSNP ExAC gnomAD v2 |
2 | g.21010179T>C | CA346001016 | APOB | c.6689A>G (p.His2230Arg) c.5869+554A>G (n.5869+554A>G) | gnomAD v4 |
2 | g.21010179T>G | CA346001018 | APOB | c.6689A>C (p.His2230Pro) c.5869+554A>C (n.5869+554A>C) | |
2 | g.21010179T= | CA2493476576 | APOB | c.6689A= (p.His2230=) c.5869+554A= (n.5869+554A=) | |
2 | g.21010180G>A | CA063446 | APOB | c.6688C>T (p.His2230Tyr) c.5869+553C>T (n.5869+553C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010180G>C | CA346001024 | APOB | c.6688C>G (p.His2230Asp) c.5869+553C>G (n.5869+553C>G) | |
2 | g.21010180G= | CA2493476577 | APOB | c.6688C= (p.His2230=) c.5869+553C= (n.5869+553C=) | |
2 | g.21010180G>T | CA346001022 | APOB | c.6688C>A (p.His2230Asn) c.5869+553C>A (n.5869+553C>A) | |
2 | g.21010181T>A | CA425345641 | APOB | c.6687A>T (p.Leu2229=) c.5869+552A>T (n.5869+552A>T) | |
2 | g.21010181T>C | CA425345642 | APOB | c.6687A>G (p.Leu2229=) c.5869+552A>G (n.5869+552A>G) | |
2 | g.21010181T>G | CA425345644 | APOB | c.6687A>C (p.Leu2229=) c.5869+552A>C (n.5869+552A>C) | |
2 | g.21010182A>C | CA346001026 | APOB | c.6686T>G (p.Leu2229Arg) c.5869+551T>G (n.5869+551T>G) | |
2 | g.21010182A>G | CA346001028 | APOB | c.6686T>C (p.Leu2229Pro) c.5869+551T>C (n.5869+551T>C) | |
2 | g.21010182A>T | CA346001030 | APOB | c.6686T>A (p.Leu2229Gln) c.5869+551T>A (n.5869+551T>A) | |
2 | g.21010183G>A | CA425345646 | APOB | c.6685C>T (p.Leu2229=) c.5869+550C>T (n.5869+550C>T) | ClinVar dbSNP |
2 | g.21010183G>C | CA346001032 | APOB | c.6685C>G (p.Leu2229Val) c.5869+550C>G (n.5869+550C>G) | |
2 | g.21010183G= | CA2493476578 | APOB | c.6685C= (p.Leu2229=) c.5869+550C= (n.5869+550C=) | |
2 | g.21010183G>T | CA346001034 | APOB | c.6685C>A (p.Leu2229Ile) c.5869+550C>A (n.5869+550C>A) | gnomAD v4 |
2 | g.21010184A= | CA2493476579 | APOB | c.6684T= (p.Asp2228=) c.5869+549T= (n.5869+549T=) | |
2 | g.21010184A>C | CA346001036 | APOB | c.6684T>G (p.Asp2228Glu) c.5869+549T>G (n.5869+549T>G) | |
2 | g.21010184A>G | CA425345647 | APOB | c.6684T>C (p.Asp2228=) c.5869+549T>C (n.5869+549T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010184A>T | CA346001038 | APOB | c.6684T>A (p.Asp2228Glu) c.5869+549T>A (n.5869+549T>A) | |
2 | g.21010185T>A | CA43505030 | APOB | c.6683A>T (p.Asp2228Val) c.5869+548A>T (n.5869+548A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010185T>C | CA346001040 | APOB | c.6683A>G (p.Asp2228Gly) c.5869+548A>G (n.5869+548A>G) | gnomAD v4 |
2 | g.21010185T>G | CA346001042 | APOB | c.6683A>C (p.Asp2228Ala) c.5869+548A>C (n.5869+548A>C) | gnomAD v4 |
2 | g.21010185T= | CA2493476580 | APOB | c.6683A= (p.Asp2228=) c.5869+548A= (n.5869+548A=) | |
2 | g.21010186C>A | CA346001044 | APOB | c.6682G>T (p.Asp2228Tyr) c.5869+547G>T (n.5869+547G>T) | gnomAD v4 |
2 | g.21010186C= | CA2493476581 | APOB | c.6682G= (p.Asp2228=) c.5869+547G= (n.5869+547G=) | |
2 | g.21010186C>G | CA346001045 | APOB | c.6682G>C (p.Asp2228His) c.5869+547G>C (n.5869+547G>C) | |
2 | g.21010186C>T | CA346001047 | APOB | c.6682G>A (p.Asp2228Asn) c.5869+547G>A (n.5869+547G>A) | dbSNP gnomAD v4 |
2 | g.21010187A= | CA2493476582 | APOB | c.6681T= (p.His2227=) c.5869+546T= (n.5869+546T=) | |
2 | g.21010187A>C | CA346001051 | APOB | c.6681T>G (p.His2227Gln) c.5869+546T>G (n.5869+546T>G) | |
2 | g.21010187A>G | CA425345652 | APOB | c.6681T>C (p.His2227=) c.5869+546T>C (n.5869+546T>C) | dbSNP |
2 | g.21010187A>T | CA346001049 | APOB | c.6681T>A (p.His2227Gln) c.5869+546T>A (n.5869+546T>A) | gnomAD v4 |
2 | g.21010187_21010188del | CA2749099707 | APOB | c.6680_6681del (p.His2227ArgfsTer7) c.5869+545_5869+546del (n.5869+545_5869+546del) | |
2 | g.21010188T>A | CA346001053 | APOB | c.6680A>T (p.His2227Leu) c.5869+545A>T (n.5869+545A>T) | |
2 | g.21010188T>C | CA346001055 | APOB | c.6680A>G (p.His2227Arg) c.5869+545A>G (n.5869+545A>G) | |
2 | g.21010188T>G | CA346001056 | APOB | c.6680A>C (p.His2227Pro) c.5869+545A>C (n.5869+545A>C) | |
2 | g.21010189G>A | CA346001057 | APOB | c.6679C>T (p.His2227Tyr) c.5869+544C>T (n.5869+544C>T) | COSMIC |
2 | g.21010189G>C | CA346001059 | APOB | c.6679C>G (p.His2227Asp) c.5869+544C>G (n.5869+544C>G) | |
2 | g.21010189G>T | CA346001061 | APOB | c.6679C>A (p.His2227Asn) c.5869+544C>A (n.5869+544C>A) | gnomAD v4 |
2 | g.21010190del | CA2503528262 | APOB | c.6679del (p.His2227MetfsTer?) c.5869+544del (n.5869+544del) | ClinVar dbSNP gnomAD v4 |
2 | g.21010190G>A | CA425345655 | APOB | c.6678C>T (p.Ile2226=) c.5869+543C>T (n.5869+543C>T) | ClinVar gnomAD v4 |
2 | g.21010190G>C | CA346001063 | APOB | c.6678C>G (p.Ile2226Met) c.5869+543C>G (n.5869+543C>G) | |
2 | g.21010190G= | CA2493476583 | APOB | c.6678C= (p.Ile2226=) c.5869+543C= (n.5869+543C=) | |
2 | g.21010190G>T | CA425345656 | APOB | c.6678C>A (p.Ile2226=) c.5869+543C>A (n.5869+543C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010191A>C | CA346001065 | APOB | c.6677T>G (p.Ile2226Ser) c.5869+542T>G (n.5869+542T>G) | |
2 | g.21010191A>G | CA346001066 | APOB | c.6677T>C (p.Ile2226Thr) c.5869+542T>C (n.5869+542T>C) | gnomAD v4 |
2 | g.21010191A>T | CA346001067 | APOB | c.6677T>A (p.Ile2226Asn) c.5869+542T>A (n.5869+542T>A) | |
2 | g.21010192T>A | CA346001069 | APOB | c.6676A>T (p.Ile2226Phe) c.5869+541A>T (n.5869+541A>T) | |
2 | g.21010192T>C | CA063438 | APOB | c.6676A>G (p.Ile2226Val) c.5869+541A>G (n.5869+541A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010192T>G | CA346001072 | APOB | c.6676A>C (p.Ile2226Leu) c.5869+541A>C (n.5869+541A>C) | |
2 | g.21010192T= | CA2493476584 | APOB | c.6676A= (p.Ile2226=) c.5869+541A= (n.5869+541A=) | |
2 | g.21010193T>A | CA425345660 | APOB | c.6675A>T (p.Thr2225=) c.5869+540A>T (n.5869+540A>T) | |
2 | g.21010193T>C | CA425345661 | APOB | c.6675A>G (p.Thr2225=) c.5869+540A>G (n.5869+540A>G) | |
2 | g.21010193T>G | CA425345662 | APOB | c.6675A>C (p.Thr2225=) c.5869+540A>C (n.5869+540A>C) | |
2 | g.21010194G>A | CA346001074 | APOB | c.6674C>T (p.Thr2225Ile) c.5869+539C>T (n.5869+539C>T) | |
2 | g.21010194G>C | CA346001077 | APOB | c.6674C>G (p.Thr2225Arg) c.5869+539C>G (n.5869+539C>G) | |
2 | g.21010194G>T | CA346001075 | APOB | c.6674C>A (p.Thr2225Lys) c.5869+539C>A (n.5869+539C>A) | gnomAD v4 COSMIC |
2 | g.21010195T>A | CA346001079 | APOB | c.6673A>T (p.Thr2225Ser) c.5869+538A>T (n.5869+538A>T) | |
2 | g.21010195T>C | CA43505031 | APOB | c.6673A>G (p.Thr2225Ala) c.5869+538A>G (n.5869+538A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010195T>G | CA346001081 | APOB | c.6673A>C (p.Thr2225Pro) c.5869+538A>C (n.5869+538A>C) | |
2 | g.21010195T= | CA2493476585 | APOB | c.6673A= (p.Thr2225=) c.5869+538A= (n.5869+538A=) | |
2 | g.21010199dup | CA2580064995 | APOB | c.6673dup (p.Thr2225AsnfsTer4) c.5869+538dup (n.5869+538dup) | ClinVar |
2 | g.21010196T>A | CA346001083 | APOB | c.6672A>T (p.Lys2224Asn) c.5869+537A>T (n.5869+537A>T) | |
2 | g.21010196T>C | CA425345666 | APOB | c.6672A>G (p.Lys2224=) c.5869+537A>G (n.5869+537A>G) | |
2 | g.21010196T>G | CA346001085 | APOB | c.6672A>C (p.Lys2224Asn) c.5869+537A>C (n.5869+537A>C) | |
2 | g.21010197T>A | CA346001087 | APOB | c.6671A>T (p.Lys2224Ile) c.5869+536A>T (n.5869+536A>T) | |
2 | g.21010197T>C | CA346001089 | APOB | c.6671A>G (p.Lys2224Arg) c.5869+536A>G (n.5869+536A>G) | |
2 | g.21010197T>G | CA346001091 | APOB | c.6671A>C (p.Lys2224Thr) c.5869+536A>C (n.5869+536A>C) | gnomAD v4 |
2 | g.21010198T>A | CA346001093 | APOB | c.6670A>T (p.Lys2224Ter) c.5869+535A>T (n.5869+535A>T) | |
2 | g.21010198T>C | CA346001095 | APOB | c.6670A>G (p.Lys2224Glu) c.5869+535A>G (n.5869+535A>G) | |
2 | g.21010198T>G | CA346001096 | APOB | c.6670A>C (p.Lys2224Gln) c.5869+535A>C (n.5869+535A>C) | |
2 | g.21010199T>A | CA425345670 | APOB | c.6669A>T (p.Val2223=) c.5869+534A>T (n.5869+534A>T) | |
2 | g.21010199T>C | CA425345668 | APOB | c.6669A>G (p.Val2223=) c.5869+534A>G (n.5869+534A>G) | gnomAD v4 |
2 | g.21010199T>G | CA425345669 | APOB | c.6669A>C (p.Val2223=) c.5869+534A>C (n.5869+534A>C) | |
2 | g.21010200A= | CA2493476586 | APOB | c.6668T= (p.Val2223=) c.5869+533T= (n.5869+533T=) | |
2 | g.21010200A>C | CA346001101 | APOB | c.6668T>G (p.Val2223Gly) c.5869+533T>G (n.5869+533T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010200A>G | CA346001099 | APOB | c.6668T>C (p.Val2223Ala) c.5869+533T>C (n.5869+533T>C) | |
2 | g.21010200A>T | CA346001098 | APOB | c.6668T>A (p.Val2223Glu) c.5869+533T>A (n.5869+533T>A) | |
2 | g.21010201C>A | CA346001102 | APOB | c.6667G>T (p.Val2223Leu) c.5869+532G>T (n.5869+532G>T) | |
2 | g.21010201C>G | CA346001104 | APOB | c.6667G>C (p.Val2223Leu) c.5869+532G>C (n.5869+532G>C) | dbSNP |
2 | g.21010201C>T | CA346001105 | APOB | c.6667G>A (p.Val2223Ile) c.5869+532G>A (n.5869+532G>A) | |
2 | g.21010202T>A | CA346001107 | APOB | c.6666A>T (p.Leu2222Phe) c.5869+531A>T (n.5869+531A>T) | |
2 | g.21010202T>C | CA425345672 | APOB | c.6666A>G (p.Leu2222=) c.5869+531A>G (n.5869+531A>G) | gnomAD v4 |
2 | g.21010202T>G | CA346001109 | APOB | c.6666A>C (p.Leu2222Phe) c.5869+531A>C (n.5869+531A>C) | |
2 | g.21010203A>C | CA346001111 | APOB | c.6665T>G (p.Leu2222Ter) c.5869+530T>G (n.5869+530T>G) | COSMIC |
2 | g.21010203A>G | CA346001113 | APOB | c.6665T>C (p.Leu2222Ser) c.5869+530T>C (n.5869+530T>C) | |
2 | g.21010203A>T | CA346001115 | APOB | c.6665T>A (p.Leu2222Ter) c.5869+530T>A (n.5869+530T>A) | |
2 | g.21010205del | CA2586968874 | APOB | c.6665del (p.Leu2222Ter) c.5869+530del (n.5869+530del) | |
2 | g.21010204A>C | CA346001117 | APOB | c.6664T>G (p.Leu2222Val) c.5869+529T>G (n.5869+529T>G) | |
2 | g.21010204A>G | CA425345674 | APOB | c.6664T>C (p.Leu2222=) c.5869+529T>C (n.5869+529T>C) | |
2 | g.21010204A>T | CA346001118 | APOB | c.6664T>A (p.Leu2222Ile) c.5869+529T>A (n.5869+529T>A) | |
2 | g.21010205A>C | CA346001121 | APOB | c.6663T>G (p.Asn2221Lys) c.5869+528T>G (n.5869+528T>G) | |
2 | g.21010205A>G | CA425345675 | APOB | c.6663T>C (p.Asn2221=) c.5869+528T>C (n.5869+528T>C) | |
2 | g.21010205A>T | CA346001122 | APOB | c.6663T>A (p.Asn2221Lys) c.5869+528T>A (n.5869+528T>A) | |
2 | g.21010206T>A | CA346001127 | APOB | c.6662A>T (p.Asn2221Ile) c.5869+527A>T (n.5869+527A>T) | |
2 | g.21010206T>C | CA346001125 | APOB | c.6662A>G (p.Asn2221Ser) c.5869+527A>G (n.5869+527A>G) | |
2 | g.21010206T>G | CA346001124 | APOB | c.6662A>C (p.Asn2221Thr) c.5869+527A>C (n.5869+527A>C) | |
2 | g.21010207T>A | CA346001133 | APOB | c.6661A>T (p.Asn2221Tyr) c.5869+526A>T (n.5869+526A>T) | |
2 | g.21010207T>C | CA346001130 | APOB | c.6661A>G (p.Asn2221Asp) c.5869+526A>G (n.5869+526A>G) | |
2 | g.21010207T>G | CA346001131 | APOB | c.6661A>C (p.Asn2221His) c.5869+526A>C (n.5869+526A>C) | COSMIC |
2 | g.21010208T>A | CA425345677 | APOB | c.6660A>T (p.Val2220=) c.5869+525A>T (n.5869+525A>T) | |
2 | g.21010208T>C | CA425345678 | APOB | c.6660A>G (p.Val2220=) c.5869+525A>G (n.5869+525A>G) | COSMIC |
2 | g.21010208T>G | CA425345679 | APOB | c.6660A>C (p.Val2220=) c.5869+525A>C (n.5869+525A>C) | |
2 | g.21010209A= | CA2493476587 | APOB | c.6659T= (p.Val2220=) c.5869+524T= (n.5869+524T=) | |
2 | g.21010209A>C | CA346001136 | APOB | c.6659T>G (p.Val2220Gly) c.5869+524T>G (n.5869+524T>G) | |
2 | g.21010209A>G | CA063428 | APOB | c.6659T>C (p.Val2220Ala) c.5869+524T>C (n.5869+524T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010209A>T | CA346001138 | APOB | c.6659T>A (p.Val2220Glu) c.5869+524T>A (n.5869+524T>A) | |
2 | g.21010210C>A | CA346001140 | APOB | c.6658G>T (p.Val2220Leu) c.5869+523G>T (n.5869+523G>T) | dbSNP gnomAD v4 |
2 | g.21010210C= | CA2493476588 | APOB | c.6658G= (p.Val2220=) c.5869+523G= (n.5869+523G=) | |
2 | g.21010210C>G | CA346001142 | APOB | c.6658G>C (p.Val2220Leu) c.5869+523G>C (n.5869+523G>C) | |
2 | g.21010210C>T | CA43505034 | APOB | c.6658G>A (p.Val2220Ile) c.5869+523G>A (n.5869+523G>A) | dbSNP gnomAD v4 |
2 | g.21010211A>C | CA425345680 | APOB | c.6657T>G (p.Arg2219=) c.5869+522T>G (n.5869+522T>G) | |
2 | g.21010211A>G | CA425345683 | APOB | c.6657T>C (p.Arg2219=) c.5869+522T>C (n.5869+522T>C) | |
2 | g.21010211A>T | CA425345681 | APOB | c.6657T>A (p.Arg2219=) c.5869+522T>A (n.5869+522T>A) | |
2 | g.21010212C>A | CA346001145 | APOB | c.6656G>T (p.Arg2219Leu) c.5869+521G>T (n.5869+521G>T) | gnomAD v4 |
2 | g.21010212C= | CA2493476589 | APOB | c.6656G= (p.Arg2219=) c.5869+521G= (n.5869+521G=) | |
2 | g.21010212C>G | CA346001147 | APOB | c.6656G>C (p.Arg2219Pro) c.5869+521G>C (n.5869+521G>C) | gnomAD v4 |
2 | g.21010212C>T | CA063423 | APOB | c.6656G>A (p.Arg2219His) c.5869+521G>A (n.5869+521G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010213G>A | CA063418 | APOB | c.6655C>T (p.Arg2219Cys) c.5869+520C>T (n.5869+520C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010213G>C | CA346001152 | APOB | c.6655C>G (p.Arg2219Gly) c.5869+520C>G (n.5869+520C>G) | |
2 | g.21010213G= | CA2493476590 | APOB | c.6655C= (p.Arg2219=) c.5869+520C= (n.5869+520C=) | |
2 | g.21010213G>T | CA346001154 | APOB | c.6655C>A (p.Arg2219Ser) c.5869+520C>A (n.5869+520C>A) | gnomAD v4 |
2 | g.21010214G>A | CA425345684 | APOB | c.6654C>T (p.Ile2218=) c.5869+519C>T (n.5869+519C>T) | gnomAD v4 COSMIC |
2 | g.21010214G>C | CA346001157 | APOB | c.6654C>G (p.Ile2218Met) c.5869+519C>G (n.5869+519C>G) | |
2 | g.21010214G= | CA2493476591 | APOB | c.6654C= (p.Ile2218=) c.5869+519C= (n.5869+519C=) | |
2 | g.21010214G>T | CA063413 | APOB | c.6654C>A (p.Ile2218=) c.5869+519C>A (n.5869+519C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010215A>C | CA346001159 | APOB | c.6653T>G (p.Ile2218Ser) c.5869+518T>G (n.5869+518T>G) | |
2 | g.21010215A>G | CA346001161 | APOB | c.6653T>C (p.Ile2218Thr) c.5869+518T>C (n.5869+518T>C) | |
2 | g.21010215A>T | CA346001163 | APOB | c.6653T>A (p.Ile2218Asn) c.5869+518T>A (n.5869+518T>A) | |
2 | g.21010216T>A | CA346001165 | APOB | c.6652A>T (p.Ile2218Phe) c.5869+517A>T (n.5869+517A>T) | |
2 | g.21010216T>C | CA346001166 | APOB | c.6652A>G (p.Ile2218Val) c.5869+517A>G (n.5869+517A>G) | |
2 | g.21010216T>G | CA346001168 | APOB | c.6652A>C (p.Ile2218Leu) c.5869+517A>C (n.5869+517A>C) | |
2 | g.21010217A>C | CA346001172 | APOB | c.6651T>G (p.His2217Gln) c.5869+516T>G (n.5869+516T>G) | |
2 | g.21010217A>G | CA425345686 | APOB | c.6651T>C (p.His2217=) c.5869+516T>C (n.5869+516T>C) | |
2 | g.21010217A>T | CA346001170 | APOB | c.6651T>A (p.His2217Gln) c.5869+516T>A (n.5869+516T>A) | |
2 | g.21010218T>A | CA346001174 | APOB | c.6650A>T (p.His2217Leu) c.5869+515A>T (n.5869+515A>T) | |
2 | g.21010218T>C | CA346001176 | APOB | c.6650A>G (p.His2217Arg) c.5869+515A>G (n.5869+515A>G) | |
2 | g.21010218T>G | CA346001178 | APOB | c.6650A>C (p.His2217Pro) c.5869+515A>C (n.5869+515A>C) | |
2 | g.21010219G>A | CA346001181 | APOB | c.6649C>T (p.His2217Tyr) c.5869+514C>T (n.5869+514C>T) | |
2 | g.21010219G>C | CA346001182 | APOB | c.6649C>G (p.His2217Asp) c.5869+514C>G (n.5869+514C>G) | |
2 | g.21010219G>T | CA346001184 | APOB | c.6649C>A (p.His2217Asn) c.5869+514C>A (n.5869+514C>A) | gnomAD v4 |
2 | g.21010220A= | CA2493476592 | APOB | c.6648T= (p.Tyr2216=) c.5869+513T= (n.5869+513T=) | |
2 | g.21010220A>C | CA346001186 | APOB | c.6648T>G (p.Tyr2216Ter) c.5869+513T>G (n.5869+513T>G) | |
2 | g.21010220A>G | CA063407 | APOB | c.6648T>C (p.Tyr2216=) c.5869+513T>C (n.5869+513T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010220A>T | CA346001188 | APOB | c.6648T>A (p.Tyr2216Ter) c.5869+513T>A (n.5869+513T>A) | |
2 | g.21010221T>A | CA346001190 | APOB | c.6647A>T (p.Tyr2216Phe) c.5869+512A>T (n.5869+512A>T) | |
2 | g.21010221T>C | CA346001191 | APOB | c.6647A>G (p.Tyr2216Cys) c.5869+512A>G (n.5869+512A>G) | |
2 | g.21010221T>G | CA346001193 | APOB | c.6647A>C (p.Tyr2216Ser) c.5869+512A>C (n.5869+512A>C) | gnomAD v4 |
2 | g.21010222A= | CA2493476593 | APOB | c.6646T= (p.Tyr2216=) c.5869+511T= (n.5869+511T=) | |
2 | g.21010222A>C | CA346001195 | APOB | c.6646T>G (p.Tyr2216Asp) c.5869+511T>G (n.5869+511T>G) | |
2 | g.21010222A>G | CA063403 | APOB | c.6646T>C (p.Tyr2216His) c.5869+511T>C (n.5869+511T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010222A>T | CA346001198 | APOB | c.6646T>A (p.Tyr2216Asn) c.5869+511T>A (n.5869+511T>A) | |
2 | g.21010223G>A | CA063396 | APOB | c.6645C>T (p.His2215=) c.5869+510C>T (n.5869+510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010223G>C | CA43505050 | APOB | c.6645C>G (p.His2215Gln) c.5869+510C>G (n.5869+510C>G) | dbSNP |
2 | g.21010223G= | CA2493476594 | APOB | c.6645C= (p.His2215=) c.5869+510C= (n.5869+510C=) | |
2 | g.21010223G>T | CA346001202 | APOB | c.6645C>A (p.His2215Gln) c.5869+510C>A (n.5869+510C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010224T>A | CA346001205 | APOB | c.6644A>T (p.His2215Leu) c.5869+509A>T (n.5869+509A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010224T>C | CA346001207 | APOB | c.6644A>G (p.His2215Arg) c.5869+509A>G (n.5869+509A>G) | dbSNP |
2 | g.21010224T>G | CA346001209 | APOB | c.6644A>C (p.His2215Pro) c.5869+509A>C (n.5869+509A>C) | |
2 | g.21010224T= | CA2493476595 | APOB | c.6644A= (p.His2215=) c.5869+509A= (n.5869+509A=) | |
2 | g.21010225G>A | CA346001214 | APOB | c.6643C>T (p.His2215Tyr) c.5869+508C>T (n.5869+508C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010225G>C | CA346001211 | APOB | c.6643C>G (p.His2215Asp) c.5869+508C>G (n.5869+508C>G) | |
2 | g.21010225G= | CA2493476596 | APOB | c.6643C= (p.His2215=) c.5869+508C= (n.5869+508C=) | |
2 | g.21010225G>T | CA346001212 | APOB | c.6643C>A (p.His2215Asn) c.5869+508C>A (n.5869+508C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21010226C>A | CA346001216 | APOB | c.6642G>T (p.Glu2214Asp) c.5869+507G>T (n.5869+507G>T) | gnomAD v4 |
2 | g.21010226C= | CA2493476598 | APOB | c.6642G= (p.Glu2214=) c.5869+507G= (n.5869+507G=) | |
2 | g.21010226C>G | CA346001218 | APOB | c.6642G>C (p.Glu2214Asp) c.5869+507G>C (n.5869+507G>C) | |
2 | g.21010226C>T | CA425345689 | APOB | c.6642G>A (p.Glu2214=) c.5869+507G>A (n.5869+507G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010227_21010228dup | CA916488003 | APOB | c.6641_6642dup (p.His2215SerfsTer7) c.5869+506_5869+507dup (n.5869+506_5869+507dup) | dbSNP |
2 | g.21010226_21010229delinsCTCA | CA2493476597 | APOB | c.6639_6642delinsTGAG (p.Asp2213=) c.5869+504_5869+507delinsTGAG (n.5869+504_5869+507delinsTGAG) | |
2 | g.21010227T>A | CA346001223 | APOB | c.6641A>T (p.Glu2214Val) c.5869+506A>T (n.5869+506A>T) | |
2 | g.21010227T>C | CA346001225 | APOB | c.6641A>G (p.Glu2214Gly) c.5869+506A>G (n.5869+506A>G) | gnomAD v4 |
2 | g.21010227T>G | CA346001227 | APOB | c.6641A>C (p.Glu2214Ala) c.5869+506A>C (n.5869+506A>C) | |
2 | g.21010230_21010232del | CA022887 | APOB | c.6639_6641del (p.Asp2213del) c.5869+504_5869+506del (n.5869+504_5869+506del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010228C>A | CA346001232 | APOB | c.6640G>T (p.Glu2214Ter) c.5869+505G>T (n.5869+505G>T) | |
2 | g.21010228C= | CA2493476600 | APOB | c.6640G= (p.Glu2214=) c.5869+505G= (n.5869+505G=) | |
2 | g.21010228C>G | CA346001234 | APOB | c.6640G>C (p.Glu2214Gln) c.5869+505G>C (n.5869+505G>C) | |
2 | g.21010228C>T | CA346001236 | APOB | c.6640G>A (p.Glu2214Lys) c.5869+505G>A (n.5869+505G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010228_21010229delinsCA | CA2493476599 | APOB | c.6639_6640delinsTG (p.Asp2213=) c.5869+504_5869+505delinsTG (n.5869+504_5869+505delinsTG) | |
2 | g.21010229del | CA916488004 | APOB | c.6639del (p.Asp2213GlufsTer8) c.5869+504del (n.5869+504del) | dbSNP |
2 | g.21010229A= | CA2493476601 | APOB | c.6639T= (p.Asp2213=) c.5869+504T= (n.5869+504T=) | |
2 | g.21010229A>C | CA346001238 | APOB | c.6639T>G (p.Asp2213Glu) c.5869+504T>G (n.5869+504T>G) | |
2 | g.21010229A>G | CA425345691 | APOB | c.6639T>C (p.Asp2213=) c.5869+504T>C (n.5869+504T>C) | ClinVar gnomAD v4 |
2 | g.21010229A>T | CA346001240 | APOB | c.6639T>A (p.Asp2213Glu) c.5869+504T>A (n.5869+504T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010230T>A | CA346001244 | APOB | c.6638A>T (p.Asp2213Val) c.5869+503A>T (n.5869+503A>T) | |
2 | g.21010230T>C | CA346001246 | APOB | c.6638A>G (p.Asp2213Gly) c.5869+503A>G (n.5869+503A>G) | gnomAD v4 |
2 | g.21010230T>G | CA346001242 | APOB | c.6638A>C (p.Asp2213Ala) c.5869+503A>C (n.5869+503A>C) | |
2 | g.21010231C>A | CA346001248 | APOB | c.6637G>T (p.Asp2213Tyr) c.5869+502G>T (n.5869+502G>T) | |
2 | g.21010231C= | CA2493476602 | APOB | c.6637G= (p.Asp2213=) c.5869+502G= (n.5869+502G=) | |
2 | g.21010231C>G | CA346001253 | APOB | c.6637G>C (p.Asp2213His) c.5869+502G>C (n.5869+502G>C) | |
2 | g.21010231C>T | CA346001250 | APOB | c.6637G>A (p.Asp2213Asn) c.5869+502G>A (n.5869+502G>A) | dbSNP gnomAD v4 |
2 | g.21010232A>C | CA425345695 | APOB | c.6636T>G (p.Leu2212=) c.5869+501T>G (n.5869+501T>G) | |
2 | g.21010232A>G | CA425345696 | APOB | c.6636T>C (p.Leu2212=) c.5869+501T>C (n.5869+501T>C) | gnomAD v4 |
2 | g.21010232A>T | CA425345697 | APOB | c.6636T>A (p.Leu2212=) c.5869+501T>A (n.5869+501T>A) | |
2 | g.21010233A>C | CA346001255 | APOB | c.6635T>G (p.Leu2212Arg) c.5869+500T>G (n.5869+500T>G) | |
2 | g.21010233A>G | CA346001257 | APOB | c.6635T>C (p.Leu2212Pro) c.5869+500T>C (n.5869+500T>C) | |
2 | g.21010233A>T | CA346001259 | APOB | c.6635T>A (p.Leu2212His) c.5869+500T>A (n.5869+500T>A) | |
2 | g.21010234del | CA2586968875 | APOB | c.6634del (p.Asp2213MetfsTer8) c.5869+499del (n.5869+499del) | |
2 | g.21010234G>A | CA346001261 | APOB | c.6634C>T (p.Leu2212Phe) c.5869+499C>T (n.5869+499C>T) | |
2 | g.21010234G>C | CA346001263 | APOB | c.6634C>G (p.Leu2212Val) c.5869+499C>G (n.5869+499C>G) | |
2 | g.21010234G>T | CA346001264 | APOB | c.6634C>A (p.Leu2212Ile) c.5869+499C>A (n.5869+499C>A) | |
2 | g.21010235A= | CA2493476603 | APOB | c.6633T= (p.Ser2211=) c.5869+498T= (n.5869+498T=) | |
2 | g.21010235A>C | CA346001267 | APOB | c.6633T>G (p.Ser2211Arg) c.5869+498T>G (n.5869+498T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010235A>G | CA425345699 | APOB | c.6633T>C (p.Ser2211=) c.5869+498T>C (n.5869+498T>C) | |
2 | g.21010235A>T | CA346001269 | APOB | c.6633T>A (p.Ser2211Arg) c.5869+498T>A (n.5869+498T>A) | |
2 | g.21010236C>A | CA346001271 | APOB | c.6632G>T (p.Ser2211Ile) c.5869+497G>T (n.5869+497G>T) | dbSNP gnomAD v4 |
2 | g.21010236C= | CA2493476605 | APOB | c.6632G= (p.Ser2211=) c.5869+497G= (n.5869+497G=) | |
2 | g.21010236C>G | CA346001274 | APOB | c.6632G>C (p.Ser2211Thr) c.5869+497G>C (n.5869+497G>C) | |
2 | g.21010236C>T | CA346001273 | APOB | c.6632G>A (p.Ser2211Asn) c.5869+497G>A (n.5869+497G>A) | gnomAD v4 |
2 | g.21010236_21010238delinsCTT | CA2493476604 | APOB | c.6630_6632delinsAAG (p.Lys2210=) c.5869+495_5869+497delinsAAG (n.5869+495_5869+497delinsAAG) | |
2 | g.21010237T>A | CA346001275 | APOB | c.6631A>T (p.Ser2211Cys) c.5869+496A>T (n.5869+496A>T) | |
2 | g.21010237T>C | CA346001277 | APOB | c.6631A>G (p.Ser2211Gly) c.5869+496A>G (n.5869+496A>G) | |
2 | g.21010237T>G | CA346001279 | APOB | c.6631A>C (p.Ser2211Arg) c.5869+496A>C (n.5869+496A>C) | |
2 | g.21010240_21010241del | CA531312747 | APOB | c.6630_6631del (p.Leu2212Ter) c.5869+495_5869+496del (n.5869+495_5869+496del) | ClinVar dbSNP gnomAD v2 |
2 | g.21010238T>A | CA346001281 | APOB | c.6630A>T (p.Lys2210Asn) c.5869+495A>T (n.5869+495A>T) | |
2 | g.21010238T>C | CA425345700 | APOB | c.6630A>G (p.Lys2210=) c.5869+495A>G (n.5869+495A>G) | |
2 | g.21010238T>G | CA346001283 | APOB | c.6630A>C (p.Lys2210Asn) c.5869+495A>C (n.5869+495A>C) | |
2 | g.21010239T>A | CA346001285 | APOB | c.6629A>T (p.Lys2210Ile) c.5869+494A>T (n.5869+494A>T) | |
2 | g.21010239T>C | CA346001291 | APOB | c.6629A>G (p.Lys2210Arg) c.5869+494A>G (n.5869+494A>G) | |
2 | g.21010239T>G | CA346001290 | APOB | c.6629A>C (p.Lys2210Thr) c.5869+494A>C (n.5869+494A>C) | |
2 | g.21010240T>A | CA346001292 | APOB | c.6628A>T (p.Lys2210Ter) c.5869+493A>T (n.5869+493A>T) | |
2 | g.21010240T>C | CA346001294 | APOB | c.6628A>G (p.Lys2210Glu) c.5869+493A>G (n.5869+493A>G) | |
2 | g.21010240T>G | CA346001296 | APOB | c.6628A>C (p.Lys2210Gln) c.5869+493A>C (n.5869+493A>C) |