Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.21010116T>ACA346000808APOBc.6752A>T (p.Asn2251Ile)
c.5869+617A>T (n.5869+617A>T)
2g.21010116T>CCA346000807APOBc.6752A>G (p.Asn2251Ser)
c.5869+617A>G (n.5869+617A>G)
ClinVar gnomAD v4
2g.21010116T>GCA346000806APOBc.6752A>C (p.Asn2251Thr)
c.5869+617A>C (n.5869+617A>C)
2g.21010116_21010119delCA2830541102APOBc.6749_6752del (p.Gln2250LeufsTer26)
c.5869+614_5869+617del (n.5869+614_5869+617del)
2g.21010117T>ACA346000809APOBc.6751A>T (p.Asn2251Tyr)
c.5869+616A>T (n.5869+616A>T)
2g.21010117T>CCA346000810APOBc.6751A>G (p.Asn2251Asp)
c.5869+616A>G (n.5869+616A>G)
2g.21010117T>GCA346000811APOBc.6751A>C (p.Asn2251His)
c.5869+616A>C (n.5869+616A>C)
gnomAD v4
2g.21010118T>ACA346000812APOBc.6750A>T (p.Gln2250His)
c.5869+615A>T (n.5869+615A>T)
2g.21010118T>CCA425345452APOBc.6750A>G (p.Gln2250=)
c.5869+615A>G (n.5869+615A>G)
2g.21010118T>GCA346000813APOBc.6750A>C (p.Gln2250His)
c.5869+615A>C (n.5869+615A>C)
2g.21010119T>ACA346000814APOBc.6749A>T (p.Gln2250Leu)
c.5869+614A>T (n.5869+614A>T)
2g.21010119T>CCA346000815APOBc.6749A>G (p.Gln2250Arg)
c.5869+614A>G (n.5869+614A>G)
2g.21010119T>GCA346000816APOBc.6749A>C (p.Gln2250Pro)
c.5869+614A>C (n.5869+614A>C)
2g.21010120G>ACA346000817APOBc.6748C>T (p.Gln2250Ter)
c.5869+613C>T (n.5869+613C>T)
2g.21010120G>CCA346000818APOBc.6748C>G (p.Gln2250Glu)
c.5869+613C>G (n.5869+613C>G)
2g.21010120G>TCA346000819APOBc.6748C>A (p.Gln2250Lys)
c.5869+613C>A (n.5869+613C>A)
2g.21010121A>CCA346000820APOBc.6747T>G (p.Ile2249Met)
c.5869+612T>G (n.5869+612T>G)
2g.21010121A>GCA425345456APOBc.6747T>C (p.Ile2249=)
c.5869+612T>C (n.5869+612T>C)
2g.21010121A>TCA425345454APOBc.6747T>A (p.Ile2249=)
c.5869+612T>A (n.5869+612T>A)
2g.21010122A=CA2493476554APOBc.6746T= (p.Ile2249=)
c.5869+611T= (n.5869+611T=)
2g.21010122A>CCA346000822APOBc.6746T>G (p.Ile2249Ser)
c.5869+611T>G (n.5869+611T>G)
2g.21010122A>GCA063482APOBc.6746T>C (p.Ile2249Thr)
c.5869+611T>C (n.5869+611T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.21010122A>TCA346000821APOBc.6746T>A (p.Ile2249Asn)
c.5869+611T>A (n.5869+611T>A)
2g.21010123T>ACA346000823APOBc.6745A>T (p.Ile2249Phe)
c.5869+610A>T (n.5869+610A>T)
2g.21010123T>CCA346000824APOBc.6745A>G (p.Ile2249Val)
c.5869+610A>G (n.5869+610A>G)
dbSNP gnomAD v2 gnomAD v4
2g.21010123T>GCA346000825APOBc.6745A>C (p.Ile2249Leu)
c.5869+610A>C (n.5869+610A>C)
2g.21010123T=CA2493476555APOBc.6745A= (p.Ile2249=)
c.5869+610A= (n.5869+610A=)
2g.21010124C>ACA346000826APOBc.6744G>T (p.Trp2248Cys)
c.5869+609G>T (n.5869+609G>T)
2g.21010124C>GCA346000827APOBc.6744G>C (p.Trp2248Cys)
c.5869+609G>C (n.5869+609G>C)
gnomAD v4
2g.21010124C>TCA346000828APOBc.6744G>A (p.Trp2248Ter)
c.5869+609G>A (n.5869+609G>A)
2g.21010125C>ACA346000829APOBc.6743G>T (p.Trp2248Leu)
c.5869+608G>T (n.5869+608G>T)
2g.21010125C>GCA346000830APOBc.6743G>C (p.Trp2248Ser)
c.5869+608G>C (n.5869+608G>C)
2g.21010125C>TCA346000831APOBc.6743G>A (p.Trp2248Ter)
c.5869+608G>A (n.5869+608G>A)
gnomAD v4
2g.21010126A>CCA346000832APOBc.6742T>G (p.Trp2248Gly)
c.5869+607T>G (n.5869+607T>G)
2g.21010126A>GCA346000833APOBc.6742T>C (p.Trp2248Arg)
c.5869+607T>C (n.5869+607T>C)
2g.21010126A>TCA346000834APOBc.6742T>A (p.Trp2248Arg)
c.5869+607T>A (n.5869+607T>A)
2g.21010127G>ACA425345459APOBc.6741C>T (p.Ser2247=)
c.5869+606C>T (n.5869+606C>T)
2g.21010127G>CCA425345461APOBc.6741C>G (p.Ser2247=)
c.5869+606C>G (n.5869+606C>G)
2g.21010127G>TCA425345460APOBc.6741C>A (p.Ser2247=)
c.5869+606C>A (n.5869+606C>A)
2g.21010128G>ACA346000837APOBc.6740C>T (p.Ser2247Phe)
c.5869+605C>T (n.5869+605C>T)
COSMIC
2g.21010128G>CCA346000836APOBc.6740C>G (p.Ser2247Cys)
c.5869+605C>G (n.5869+605C>G)
2g.21010128G>TCA346000835APOBc.6740C>A (p.Ser2247Tyr)
c.5869+605C>A (n.5869+605C>A)
2g.21010129A>CCA346000838APOBc.6739T>G (p.Ser2247Ala)
c.5869+604T>G (n.5869+604T>G)
2g.21010129A>GCA346000840APOBc.6739T>C (p.Ser2247Pro)
c.5869+604T>C (n.5869+604T>C)
2g.21010129A>TCA346000839APOBc.6739T>A (p.Ser2247Thr)
c.5869+604T>A (n.5869+604T>A)
2g.21010130T>ACA425345463APOBc.6738A>T (p.Ala2246=)
c.5869+603A>T (n.5869+603A>T)
2g.21010130T>CCA425345464APOBc.6738A>G (p.Ala2246=)
c.5869+603A>G (n.5869+603A>G)
2g.21010130T>GCA425345465APOBc.6738A>C (p.Ala2246=)
c.5869+603A>C (n.5869+603A>C)
2g.21010131G>ACA346000841APOBc.6737C>T (p.Ala2246Val)
c.5869+602C>T (n.5869+602C>T)
2g.21010131G>CCA346000842APOBc.6737C>G (p.Ala2246Gly)
c.5869+602C>G (n.5869+602C>G)
2g.21010131G>TCA346000843APOBc.6737C>A (p.Ala2246Glu)
c.5869+602C>A (n.5869+602C>A)
2g.21010132C>ACA346000844APOBc.6736G>T (p.Ala2246Ser)
c.5869+601G>T (n.5869+601G>T)
dbSNP gnomAD v4
2g.21010132C=CA2493476556APOBc.6736G= (p.Ala2246=)
c.5869+601G= (n.5869+601G=)
2g.21010132C>GCA346000845APOBc.6736G>C (p.Ala2246Pro)
c.5869+601G>C (n.5869+601G>C)
gnomAD v4
2g.21010132C>TCA346000846APOBc.6736G>A (p.Ala2246Thr)
c.5869+601G>A (n.5869+601G>A)
2g.21010133A>CCA425345470APOBc.6735T>G (p.Thr2245=)
c.5869+600T>G (n.5869+600T>G)
2g.21010133A>GCA425345471APOBc.6735T>C (p.Thr2245=)
c.5869+600T>C (n.5869+600T>C)
2g.21010133A>TCA425345473APOBc.6735T>A (p.Thr2245=)
c.5869+600T>A (n.5869+600T>A)
2g.21010134G>ACA43505001APOBc.6734C>T (p.Thr2245Ile)
c.5869+599C>T (n.5869+599C>T)
dbSNP gnomAD v2 gnomAD v4
2g.21010134G>CCA346000848APOBc.6734C>G (p.Thr2245Ser)
c.5869+599C>G (n.5869+599C>G)
2g.21010134G=CA2493476557APOBc.6734C= (p.Thr2245=)
c.5869+599C= (n.5869+599C=)
2g.21010134G>TCA346000847APOBc.6734C>A (p.Thr2245Asn)
c.5869+599C>A (n.5869+599C>A)
gnomAD v4
2g.21010135T>ACA346000849APOBc.6733A>T (p.Thr2245Ser)
c.5869+598A>T (n.5869+598A>T)
2g.21010135T>CCA346000850APOBc.6733A>G (p.Thr2245Ala)
c.5869+598A>G (n.5869+598A>G)
dbSNP gnomAD v4
2g.21010135T>GCA346000851APOBc.6733A>C (p.Thr2245Pro)
c.5869+598A>C (n.5869+598A>C)
2g.21010135T=CA2493476558APOBc.6733A= (p.Thr2245=)
c.5869+598A= (n.5869+598A=)
2g.21010136A=CA2493476559APOBc.6732T= (p.Ser2244=)
c.5869+597T= (n.5869+597T=)
2g.21010136A>CCA346000852APOBc.6732T>G (p.Ser2244Arg)
c.5869+597T>G (n.5869+597T>G)
2g.21010136A>GCA063473APOBc.6732T>C (p.Ser2244=)
c.5869+597T>C (n.5869+597T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.21010136A>TCA346000853APOBc.6732T>A (p.Ser2244Arg)
c.5869+597T>A (n.5869+597T>A)
2g.21010137C>ACA346000854APOBc.6731G>T (p.Ser2244Ile)
c.5869+596G>T (n.5869+596G>T)
COSMIC
2g.21010137C=CA2493476560APOBc.6731G= (p.Ser2244=)
c.5869+596G= (n.5869+596G=)
2g.21010137C>GCA346000855APOBc.6731G>C (p.Ser2244Thr)
c.5869+596G>C (n.5869+596G>C)
2g.21010137C>TCA063467APOBc.6731G>A (p.Ser2244Asn)
c.5869+596G>A (n.5869+596G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.21010138T>ACA346000856APOBc.6730A>T (p.Ser2244Cys)
c.5869+595A>T (n.5869+595A>T)
2g.21010138T>CCA346000857APOBc.6730A>G (p.Ser2244Gly)
c.5869+595A>G (n.5869+595A>G)
2g.21010138T>GCA346000858APOBc.6730A>C (p.Ser2244Arg)
c.5869+595A>C (n.5869+595A>C)
2g.21010139A=CA2493476561APOBc.6729T= (p.Ser2243=)
c.5869+594T= (n.5869+594T=)
2g.21010139A>CCA346000859APOBc.6729T>G (p.Ser2243Arg)
c.5869+594T>G (n.5869+594T>G)
dbSNP
2g.21010139A>GCA425345481APOBc.6729T>C (p.Ser2243=)
c.5869+594T>C (n.5869+594T>C)
dbSNP
2g.21010139A>TCA346000860APOBc.6729T>A (p.Ser2243Arg)
c.5869+594T>A (n.5869+594T>A)
2g.21010139_21010142delinsACTTCA2493476562APOBc.6726_6729delinsAAGT (p.Gly2242=)
c.5869+591_5869+594delinsAAGT (n.5869+591_5869+594delinsAAGT)
2g.21010140C>ACA346000861APOBc.6728G>T (p.Ser2243Ile)
c.5869+593G>T (n.5869+593G>T)
dbSNP
2g.21010140C=CA2493476563APOBc.6728G= (p.Ser2243=)
c.5869+593G= (n.5869+593G=)
2g.21010140C>GCA346000862APOBc.6728G>C (p.Ser2243Thr)
c.5869+593G>C (n.5869+593G>C)
gnomAD v4
2g.21010140C>TCA346000863APOBc.6728G>A (p.Ser2243Asn)
c.5869+593G>A (n.5869+593G>A)
2g.21010141_21010143delCA645372282APOBc.6726_6728del (p.Ser2243del)
c.5869+591_5869+593del (n.5869+591_5869+593del)
dbSNP
2g.21010141T>ACA346000864APOBc.6727A>T (p.Ser2243Cys)
c.5869+592A>T (n.5869+592A>T)
2g.21010141T>CCA346000865APOBc.6727A>G (p.Ser2243Gly)
c.5869+592A>G (n.5869+592A>G)
gnomAD v4
2g.21010141T>GCA346000866APOBc.6727A>C (p.Ser2243Arg)
c.5869+592A>C (n.5869+592A>C)
2g.21010142T>ACA425345482APOBc.6726A>T (p.Gly2242=)
c.5869+591A>T (n.5869+591A>T)
2g.21010142T>CCA425345484APOBc.6726A>G (p.Gly2242=)
c.5869+591A>G (n.5869+591A>G)
2g.21010142T>GCA425345483APOBc.6726A>C (p.Gly2242=)
c.5869+591A>C (n.5869+591A>C)
2g.21010143C>ACA346000867APOBc.6725G>T (p.Gly2242Val)
c.5869+590G>T (n.5869+590G>T)
2g.21010143C=CA2493476564APOBc.6725G= (p.Gly2242=)
c.5869+590G= (n.5869+590G=)
2g.21010143C>GCA346000868APOBc.6725G>C (p.Gly2242Ala)
c.5869+590G>C (n.5869+590G>C)
dbSNP
2g.21010143C>TCA43505010APOBc.6725G>A (p.Gly2242Glu)
c.5869+590G>A (n.5869+590G>A)
dbSNP COSMIC
2g.21010144C>ACA346000869APOBc.6724G>T (p.Gly2242Ter)
c.5869+589G>T (n.5869+589G>T)
gnomAD v4
2g.21010144C=CA2493476565APOBc.6724G= (p.Gly2242=)
c.5869+589G= (n.5869+589G=)
2g.21010144C>GCA346000870APOBc.6724G>C (p.Gly2242Arg)
c.5869+589G>C (n.5869+589G>C)
gnomAD v4
2g.21010144C>TCA346000871APOBc.6724G>A (p.Gly2242Arg)
c.5869+589G>A (n.5869+589G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.21010145A>CCA346000872APOBc.6723T>G (p.Ser2241Arg)
c.5869+588T>G (n.5869+588T>G)
2g.21010145A>GCA425345485APOBc.6723T>C (p.Ser2241=)
c.5869+588T>C (n.5869+588T>C)
2g.21010145A>TCA346000873APOBc.6723T>A (p.Ser2241Arg)
c.5869+588T>A (n.5869+588T>A)
2g.21010145_21010146delinsACCA2493476566APOBc.6722_6723delinsGT (p.Ser2241=)
c.5869+587_5869+588delinsGT (n.5869+587_5869+588delinsGT)
2g.21010146delCA531312746APOBc.6722del (p.Ser2241MetfsTer?)
c.5869+587del (n.5869+587del)
dbSNP gnomAD v2 gnomAD v4
2g.21010146C>ACA43505016APOBc.6722G>T (p.Ser2241Ile)
c.5869+587G>T (n.5869+587G>T)
dbSNP
2g.21010146C=CA2493476567APOBc.6722G= (p.Ser2241=)
c.5869+587G= (n.5869+587G=)
2g.21010146C>GCA346000874APOBc.6722G>C (p.Ser2241Thr)
c.5869+587G>C (n.5869+587G>C)
dbSNP gnomAD v3 gnomAD v4
2g.21010146C>TCA346000875APOBc.6722G>A (p.Ser2241Asn)
c.5869+587G>A (n.5869+587G>A)
2g.21010147T>ACA346000876APOBc.6721A>T (p.Ser2241Cys)
c.5869+586A>T (n.5869+586A>T)
2g.21010147T>CCA346000877APOBc.6721A>G (p.Ser2241Gly)
c.5869+586A>G (n.5869+586A>G)
2g.21010147T>GCA346000878APOBc.6721A>C (p.Ser2241Arg)
c.5869+586A>C (n.5869+586A>C)
2g.21010148T>ACA346000879APOBc.6720A>T (p.Lys2240Asn)
c.5869+585A>T (n.5869+585A>T)
2g.21010148T>CCA425345488APOBc.6720A>G (p.Lys2240=)
c.5869+585A>G (n.5869+585A>G)
2g.21010148T>GCA346000880APOBc.6720A>C (p.Lys2240Asn)
c.5869+585A>C (n.5869+585A>C)
2g.21010149T>ACA346000881APOBc.6719A>T (p.Lys2240Ile)
c.5869+584A>T (n.5869+584A>T)
2g.21010149T>CCA346000883APOBc.6719A>G (p.Lys2240Arg)
c.5869+584A>G (n.5869+584A>G)
2g.21010149T>GCA346000882APOBc.6719A>C (p.Lys2240Thr)
c.5869+584A>C (n.5869+584A>C)
ClinVar dbSNP
2g.21010149T=CA2493476568APOBc.6719A= (p.Lys2240=)
c.5869+584A= (n.5869+584A=)
2g.21010150T>ACA346000884APOBc.6718A>T (p.Lys2240Ter)
c.5869+583A>T (n.5869+583A>T)
2g.21010150T>CCA346000885APOBc.6718A>G (p.Lys2240Glu)
c.5869+583A>G (n.5869+583A>G)
2g.21010150T>GCA346000886APOBc.6718A>C (p.Lys2240Gln)
c.5869+583A>C (n.5869+583A>C)
COSMIC
2g.21010151G>ACA425345492APOBc.6717C>T (p.Asn2239=)
c.5869+582C>T (n.5869+582C>T)
2g.21010151G>CCA346000887APOBc.6717C>G (p.Asn2239Lys)
c.5869+582C>G (n.5869+582C>G)
2g.21010151G>TCA346000888APOBc.6717C>A (p.Asn2239Lys)
c.5869+582C>A (n.5869+582C>A)
2g.21010152T>ACA346000889APOBc.6716A>T (p.Asn2239Ile)
c.5869+581A>T (n.5869+581A>T)
2g.21010152T>CCA346000890APOBc.6716A>G (p.Asn2239Ser)
c.5869+581A>G (n.5869+581A>G)
2g.21010152T>GCA346000891APOBc.6716A>C (p.Asn2239Thr)
c.5869+581A>C (n.5869+581A>C)
2g.21010153T>ACA346000893APOBc.6715A>T (p.Asn2239Tyr)
c.5869+580A>T (n.5869+580A>T)
2g.21010153T>CCA346000894APOBc.6715A>G (p.Asn2239Asp)
c.5869+580A>G (n.5869+580A>G)
2g.21010153T>GCA346000896APOBc.6715A>C (p.Asn2239His)
c.5869+580A>C (n.5869+580A>C)
2g.21010154A>CCA346000899APOBc.6714T>G (p.Phe2238Leu)
c.5869+579T>G (n.5869+579T>G)
gnomAD v4
2g.21010154A>GCA425345495APOBc.6714T>C (p.Phe2238=)
c.5869+579T>C (n.5869+579T>C)
2g.21010154A>TCA346000898APOBc.6714T>A (p.Phe2238Leu)
c.5869+579T>A (n.5869+579T>A)
2g.21010157dupCA2586968873APOBc.6714dup (p.Asn2239Ter)
c.5869+579dup (n.5869+579dup)
2g.21010155A>CCA346000901APOBc.6713T>G (p.Phe2238Cys)
c.5869+578T>G (n.5869+578T>G)
2g.21010155A>GCA346000905APOBc.6713T>C (p.Phe2238Ser)
c.5869+578T>C (n.5869+578T>C)
2g.21010155A>TCA346000903APOBc.6713T>A (p.Phe2238Tyr)
c.5869+578T>A (n.5869+578T>A)
2g.21010156A>CCA346000907APOBc.6712T>G (p.Phe2238Val)
c.5869+577T>G (n.5869+577T>G)
2g.21010156A>GCA346000909APOBc.6712T>C (p.Phe2238Leu)
c.5869+577T>C (n.5869+577T>C)
2g.21010156A>TCA346000911APOBc.6712T>A (p.Phe2238Ile)
c.5869+577T>A (n.5869+577T>A)
gnomAD v4
2g.21010157A>CCA346000913APOBc.6711T>G (p.Asp2237Glu)
c.5869+576T>G (n.5869+576T>G)
2g.21010157A>GCA425345497APOBc.6711T>C (p.Asp2237=)
c.5869+576T>C (n.5869+576T>C)
2g.21010157A>TCA346000915APOBc.6711T>A (p.Asp2237Glu)
c.5869+576T>A (n.5869+576T>A)
2g.21010158T>ACA346000917APOBc.6710A>T (p.Asp2237Val)
c.5869+575A>T (n.5869+575A>T)
2g.21010158T>CCA346000918APOBc.6710A>G (p.Asp2237Gly)
c.5869+575A>G (n.5869+575A>G)
2g.21010158T>GCA346000920APOBc.6710A>C (p.Asp2237Ala)
c.5869+575A>C (n.5869+575A>C)
2g.21010159C>ACA346000921APOBc.6709G>T (p.Asp2237Tyr)
c.5869+574G>T (n.5869+574G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.21010159C=CA2493476569APOBc.6709G= (p.Asp2237=)
c.5869+574G= (n.5869+574G=)
2g.21010159C>GCA346000923APOBc.6709G>C (p.Asp2237His)
c.5869+574G>C (n.5869+574G>C)
dbSNP gnomAD v2 gnomAD v4
2g.21010159C>TCA346000925APOBc.6709G>A (p.Asp2237Asn)
c.5869+574G>A (n.5869+574G>A)
2g.21010160A=CA2493476570APOBc.6708T= (p.Ile2236=)
c.5869+573T= (n.5869+573T=)
2g.21010160A>CCA346000927APOBc.6708T>G (p.Ile2236Met)
c.5869+573T>G (n.5869+573T>G)
2g.21010160A>GCA425345501APOBc.6708T>C (p.Ile2236=)
c.5869+573T>C (n.5869+573T>C)
2g.21010160A>TCA43505017APOBc.6708T>A (p.Ile2236=)
c.5869+573T>A (n.5869+573T>A)
dbSNP
2g.21010161A=CA2493476571APOBc.6707T= (p.Ile2236=)
c.5869+572T= (n.5869+572T=)
2g.21010161A>CCA346000931APOBc.6707T>G (p.Ile2236Ser)
c.5869+572T>G (n.5869+572T>G)
2g.21010161A>GCA063461APOBc.6707T>C (p.Ile2236Thr)
c.5869+572T>C (n.5869+572T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.21010161A>TCA346000933APOBc.6707T>A (p.Ile2236Asn)
c.5869+572T>A (n.5869+572T>A)
2g.21010162T>ACA346000936APOBc.6706A>T (p.Ile2236Phe)
c.5869+571A>T (n.5869+571A>T)
2g.21010162T>CCA346000938APOBc.6706A>G (p.Ile2236Val)
c.5869+571A>G (n.5869+571A>G)
2g.21010162T>GCA346000939APOBc.6706A>C (p.Ile2236Leu)
c.5869+571A>C (n.5869+571A>C)
2g.21010163A>CCA346000941APOBc.6705T>G (p.Asn2235Lys)
c.5869+570T>G (n.5869+570T>G)
2g.21010163A>GCA425345508APOBc.6705T>C (p.Asn2235=)
c.5869+570T>C (n.5869+570T>C)
2g.21010163A>TCA346000943APOBc.6705T>A (p.Asn2235Lys)
c.5869+570T>A (n.5869+570T>A)
2g.21010164T>ACA346000945APOBc.6704A>T (p.Asn2235Ile)
c.5869+569A>T (n.5869+569A>T)
2g.21010164T>CCA346000947APOBc.6704A>G (p.Asn2235Ser)
c.5869+569A>G (n.5869+569A>G)
2g.21010164T>GCA346000949APOBc.6704A>C (p.Asn2235Thr)
c.5869+569A>C (n.5869+569A>C)
2g.21010165T>ACA346000951APOBc.6703A>T (p.Asn2235Tyr)
c.5869+568A>T (n.5869+568A>T)
2g.21010165T>CCA346000953APOBc.6703A>G (p.Asn2235Asp)
c.5869+568A>G (n.5869+568A>G)
2g.21010165T>GCA346000955APOBc.6703A>C (p.Asn2235His)
c.5869+568A>C (n.5869+568A>C)
2g.21010166T>ACA346000959APOBc.6702A>T (p.Glu2234Asp)
c.5869+567A>T (n.5869+567A>T)
2g.21010166T>CCA425345513APOBc.6702A>G (p.Glu2234=)
c.5869+567A>G (n.5869+567A>G)
2g.21010166T>GCA346000957APOBc.6702A>C (p.Glu2234Asp)
c.5869+567A>C (n.5869+567A>C)
2g.21010167T>ACA346000961APOBc.6701A>T (p.Glu2234Val)
c.5869+566A>T (n.5869+566A>T)
2g.21010167T>CCA346000963APOBc.6701A>G (p.Glu2234Gly)
c.5869+566A>G (n.5869+566A>G)
2g.21010167T>GCA346000965APOBc.6701A>C (p.Glu2234Ala)
c.5869+566A>C (n.5869+566A>C)
2g.21010168C>ACA346000967APOBc.6700G>T (p.Glu2234Ter)
c.5869+565G>T (n.5869+565G>T)
2g.21010168C>GCA346000969APOBc.6700G>C (p.Glu2234Gln)
c.5869+565G>C (n.5869+565G>C)
2g.21010168C>TCA346000971APOBc.6700G>A (p.Glu2234Lys)
c.5869+565G>A (n.5869+565G>A)
2g.21010169A=CA2493476572APOBc.6699T= (p.Ile2233=)
c.5869+564T= (n.5869+564T=)
2g.21010169A>CCA346000972APOBc.6699T>G (p.Ile2233Met)
c.5869+564T>G (n.5869+564T>G)
dbSNP gnomAD v4
2g.21010169A>GCA425345518APOBc.6699T>C (p.Ile2233=)
c.5869+564T>C (n.5869+564T>C)
2g.21010169A>TCA425345517APOBc.6699T>A (p.Ile2233=)
c.5869+564T>A (n.5869+564T>A)
2g.21010170A=CA2493476573APOBc.6698T= (p.Ile2233=)
c.5869+563T= (n.5869+563T=)
2g.21010170A>CCA346000977APOBc.6698T>G (p.Ile2233Ser)
c.5869+563T>G (n.5869+563T>G)
2g.21010170A>GCA346000974APOBc.6698T>C (p.Ile2233Thr)
c.5869+563T>C (n.5869+563T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.21010170A>TCA346000975APOBc.6698T>A (p.Ile2233Asn)
c.5869+563T>A (n.5869+563T>A)
2g.21010171T>ACA346000978APOBc.6697A>T (p.Ile2233Phe)
c.5869+562A>T (n.5869+562A>T)
2g.21010171T>CCA346000980APOBc.6697A>G (p.Ile2233Val)
c.5869+562A>G (n.5869+562A>G)
2g.21010171T>GCA346000982APOBc.6697A>C (p.Ile2233Leu)
c.5869+562A>C (n.5869+562A>C)
2g.21010172A>CCA346000984APOBc.6696T>G (p.Phe2232Leu)
c.5869+561T>G (n.5869+561T>G)
2g.21010172A>GCA425345521APOBc.6696T>C (p.Phe2232=)
c.5869+561T>C (n.5869+561T>C)
2g.21010172A>TCA346000986APOBc.6696T>A (p.Phe2232Leu)
c.5869+561T>A (n.5869+561T>A)
2g.21010173A>CCA346000989APOBc.6695T>G (p.Phe2232Cys)
c.5869+560T>G (n.5869+560T>G)
2g.21010173A>GCA346000992APOBc.6695T>C (p.Phe2232Ser)
c.5869+560T>C (n.5869+560T>C)
2g.21010173A>TCA346000990APOBc.6695T>A (p.Phe2232Tyr)
c.5869+560T>A (n.5869+560T>A)
2g.21010174A>CCA346000994APOBc.6694T>G (p.Phe2232Val)
c.5869+559T>G (n.5869+559T>G)
2g.21010174A>GCA346000995APOBc.6694T>C (p.Phe2232Leu)
c.5869+559T>C (n.5869+559T>C)
gnomAD v4
2g.21010174A>TCA346000997APOBc.6694T>A (p.Phe2232Ile)
c.5869+559T>A (n.5869+559T>A)
2g.21010175C>ACA346000999APOBc.6693G>T (p.Leu2231Phe)
c.5869+558G>T (n.5869+558G>T)
dbSNP gnomAD v4
2g.21010175C=CA2493476574APOBc.6693G= (p.Leu2231=)
c.5869+558G= (n.5869+558G=)
2g.21010175C>GCA346001000APOBc.6693G>C (p.Leu2231Phe)
c.5869+558G>C (n.5869+558G>C)
gnomAD v4
2g.21010175C>TCA425345526APOBc.6693G>A (p.Leu2231=)
c.5869+558G>A (n.5869+558G>A)
dbSNP gnomAD v3 gnomAD v4
2g.21010176A=CA2493476575APOBc.6692T= (p.Leu2231=)
c.5869+557T= (n.5869+557T=)
2g.21010176A>CCA346001003APOBc.6692T>G (p.Leu2231Trp)
c.5869+557T>G (n.5869+557T>G)
2g.21010176A>GCA346001004APOBc.6692T>C (p.Leu2231Ser)
c.5869+557T>C (n.5869+557T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.21010176A>TCA346001006APOBc.6692T>A (p.Leu2231Ter)
c.5869+557T>A (n.5869+557T>A)
2g.21010178delCA2573130195APOBc.6692del (p.Leu2231CysfsTer?)
c.5869+557del (n.5869+557del)
2g.21010177A>CCA346001008APOBc.6691T>G (p.Leu2231Val)
c.5869+556T>G (n.5869+556T>G)
2g.21010177A>GCA425345528APOBc.6691T>C (p.Leu2231=)
c.5869+556T>C (n.5869+556T>C)
gnomAD v4
2g.21010177A>TCA346001010APOBc.6691T>A (p.Leu2231Met)
c.5869+556T>A (n.5869+556T>A)
2g.21010177_21010178insCACCAAACACACCCAACACCA2749099706APOBc.6690_6691insGTGTTGGGTGTGTTTGGTG (p.Leu2231ValfsTer10)
c.5869+555_5869+556insGTGTTGGGTGTGTTTGGTG (n.5869+555_5869+556insGTGTTGGGTGTGTTTGGTG)
2g.21010178A>CCA346001012APOBc.6690T>G (p.His2230Gln)
c.5869+555T>G (n.5869+555T>G)
2g.21010178A>GCA425345530APOBc.6690T>C (p.His2230=)
c.5869+555T>C (n.5869+555T>C)
ClinVar gnomAD v4
2g.21010178A>TCA346001014APOBc.6690T>A (p.His2230Gln)
c.5869+555T>A (n.5869+555T>A)
2g.21010179T>ACA063452APOBc.6689A>T (p.His2230Leu)
c.5869+554A>T (n.5869+554A>T)
dbSNP ExAC gnomAD v2
2g.21010179T>CCA346001016APOBc.6689A>G (p.His2230Arg)
c.5869+554A>G (n.5869+554A>G)
gnomAD v4
2g.21010179T>GCA346001018APOBc.6689A>C (p.His2230Pro)
c.5869+554A>C (n.5869+554A>C)
2g.21010179T=CA2493476576APOBc.6689A= (p.His2230=)
c.5869+554A= (n.5869+554A=)
2g.21010180G>ACA063446APOBc.6688C>T (p.His2230Tyr)
c.5869+553C>T (n.5869+553C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.21010180G>CCA346001024APOBc.6688C>G (p.His2230Asp)
c.5869+553C>G (n.5869+553C>G)
2g.21010180G=CA2493476577APOBc.6688C= (p.His2230=)
c.5869+553C= (n.5869+553C=)
2g.21010180G>TCA346001022APOBc.6688C>A (p.His2230Asn)
c.5869+553C>A (n.5869+553C>A)
2g.21010181T>ACA425345641APOBc.6687A>T (p.Leu2229=)
c.5869+552A>T (n.5869+552A>T)
2g.21010181T>CCA425345642APOBc.6687A>G (p.Leu2229=)
c.5869+552A>G (n.5869+552A>G)
2g.21010181T>GCA425345644APOBc.6687A>C (p.Leu2229=)
c.5869+552A>C (n.5869+552A>C)
2g.21010182A>CCA346001026APOBc.6686T>G (p.Leu2229Arg)
c.5869+551T>G (n.5869+551T>G)
2g.21010182A>GCA346001028APOBc.6686T>C (p.Leu2229Pro)
c.5869+551T>C (n.5869+551T>C)
2g.21010182A>TCA346001030APOBc.6686T>A (p.Leu2229Gln)
c.5869+551T>A (n.5869+551T>A)
2g.21010183G>ACA425345646APOBc.6685C>T (p.Leu2229=)
c.5869+550C>T (n.5869+550C>T)
ClinVar dbSNP
2g.21010183G>CCA346001032APOBc.6685C>G (p.Leu2229Val)
c.5869+550C>G (n.5869+550C>G)
2g.21010183G=CA2493476578APOBc.6685C= (p.Leu2229=)
c.5869+550C= (n.5869+550C=)
2g.21010183G>TCA346001034APOBc.6685C>A (p.Leu2229Ile)
c.5869+550C>A (n.5869+550C>A)
gnomAD v4
2g.21010184A=CA2493476579APOBc.6684T= (p.Asp2228=)
c.5869+549T= (n.5869+549T=)
2g.21010184A>CCA346001036APOBc.6684T>G (p.Asp2228Glu)
c.5869+549T>G (n.5869+549T>G)
2g.21010184A>GCA425345647APOBc.6684T>C (p.Asp2228=)
c.5869+549T>C (n.5869+549T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.21010184A>TCA346001038APOBc.6684T>A (p.Asp2228Glu)
c.5869+549T>A (n.5869+549T>A)
2g.21010185T>ACA43505030APOBc.6683A>T (p.Asp2228Val)
c.5869+548A>T (n.5869+548A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.21010185T>CCA346001040APOBc.6683A>G (p.Asp2228Gly)
c.5869+548A>G (n.5869+548A>G)
gnomAD v4
2g.21010185T>GCA346001042APOBc.6683A>C (p.Asp2228Ala)
c.5869+548A>C (n.5869+548A>C)
gnomAD v4
2g.21010185T=CA2493476580APOBc.6683A= (p.Asp2228=)
c.5869+548A= (n.5869+548A=)
2g.21010186C>ACA346001044APOBc.6682G>T (p.Asp2228Tyr)
c.5869+547G>T (n.5869+547G>T)
gnomAD v4
2g.21010186C=CA2493476581APOBc.6682G= (p.Asp2228=)
c.5869+547G= (n.5869+547G=)
2g.21010186C>GCA346001045APOBc.6682G>C (p.Asp2228His)
c.5869+547G>C (n.5869+547G>C)
2g.21010186C>TCA346001047APOBc.6682G>A (p.Asp2228Asn)
c.5869+547G>A (n.5869+547G>A)
dbSNP gnomAD v4
2g.21010187A=CA2493476582APOBc.6681T= (p.His2227=)
c.5869+546T= (n.5869+546T=)
2g.21010187A>CCA346001051APOBc.6681T>G (p.His2227Gln)
c.5869+546T>G (n.5869+546T>G)
2g.21010187A>GCA425345652APOBc.6681T>C (p.His2227=)
c.5869+546T>C (n.5869+546T>C)
dbSNP
2g.21010187A>TCA346001049APOBc.6681T>A (p.His2227Gln)
c.5869+546T>A (n.5869+546T>A)
gnomAD v4
2g.21010187_21010188delCA2749099707APOBc.6680_6681del (p.His2227ArgfsTer7)
c.5869+545_5869+546del (n.5869+545_5869+546del)
2g.21010188T>ACA346001053APOBc.6680A>T (p.His2227Leu)
c.5869+545A>T (n.5869+545A>T)
2g.21010188T>CCA346001055APOBc.6680A>G (p.His2227Arg)
c.5869+545A>G (n.5869+545A>G)
2g.21010188T>GCA346001056APOBc.6680A>C (p.His2227Pro)
c.5869+545A>C (n.5869+545A>C)
2g.21010189G>ACA346001057APOBc.6679C>T (p.His2227Tyr)
c.5869+544C>T (n.5869+544C>T)
COSMIC
2g.21010189G>CCA346001059APOBc.6679C>G (p.His2227Asp)
c.5869+544C>G (n.5869+544C>G)
2g.21010189G>TCA346001061APOBc.6679C>A (p.His2227Asn)
c.5869+544C>A (n.5869+544C>A)
gnomAD v4
2g.21010190delCA2503528262APOBc.6679del (p.His2227MetfsTer?)
c.5869+544del (n.5869+544del)
ClinVar dbSNP gnomAD v4
2g.21010190G>ACA425345655APOBc.6678C>T (p.Ile2226=)
c.5869+543C>T (n.5869+543C>T)
ClinVar gnomAD v4
2g.21010190G>CCA346001063APOBc.6678C>G (p.Ile2226Met)
c.5869+543C>G (n.5869+543C>G)
2g.21010190G=CA2493476583APOBc.6678C= (p.Ile2226=)
c.5869+543C= (n.5869+543C=)
2g.21010190G>TCA425345656APOBc.6678C>A (p.Ile2226=)
c.5869+543C>A (n.5869+543C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.21010191A>CCA346001065APOBc.6677T>G (p.Ile2226Ser)
c.5869+542T>G (n.5869+542T>G)
2g.21010191A>GCA346001066APOBc.6677T>C (p.Ile2226Thr)
c.5869+542T>C (n.5869+542T>C)
gnomAD v4
2g.21010191A>TCA346001067APOBc.6677T>A (p.Ile2226Asn)
c.5869+542T>A (n.5869+542T>A)
2g.21010192T>ACA346001069APOBc.6676A>T (p.Ile2226Phe)
c.5869+541A>T (n.5869+541A>T)
2g.21010192T>CCA063438APOBc.6676A>G (p.Ile2226Val)
c.5869+541A>G (n.5869+541A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.21010192T>GCA346001072APOBc.6676A>C (p.Ile2226Leu)
c.5869+541A>C (n.5869+541A>C)
2g.21010192T=CA2493476584APOBc.6676A= (p.Ile2226=)
c.5869+541A= (n.5869+541A=)
2g.21010193T>ACA425345660APOBc.6675A>T (p.Thr2225=)
c.5869+540A>T (n.5869+540A>T)
2g.21010193T>CCA425345661APOBc.6675A>G (p.Thr2225=)
c.5869+540A>G (n.5869+540A>G)
2g.21010193T>GCA425345662APOBc.6675A>C (p.Thr2225=)
c.5869+540A>C (n.5869+540A>C)
2g.21010194G>ACA346001074APOBc.6674C>T (p.Thr2225Ile)
c.5869+539C>T (n.5869+539C>T)
2g.21010194G>CCA346001077APOBc.6674C>G (p.Thr2225Arg)
c.5869+539C>G (n.5869+539C>G)
2g.21010194G>TCA346001075APOBc.6674C>A (p.Thr2225Lys)
c.5869+539C>A (n.5869+539C>A)
gnomAD v4 COSMIC
2g.21010195T>ACA346001079APOBc.6673A>T (p.Thr2225Ser)
c.5869+538A>T (n.5869+538A>T)
2g.21010195T>CCA43505031APOBc.6673A>G (p.Thr2225Ala)
c.5869+538A>G (n.5869+538A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.21010195T>GCA346001081APOBc.6673A>C (p.Thr2225Pro)
c.5869+538A>C (n.5869+538A>C)
2g.21010195T=CA2493476585APOBc.6673A= (p.Thr2225=)
c.5869+538A= (n.5869+538A=)
2g.21010199dupCA2580064995APOBc.6673dup (p.Thr2225AsnfsTer4)
c.5869+538dup (n.5869+538dup)
ClinVar
2g.21010196T>ACA346001083APOBc.6672A>T (p.Lys2224Asn)
c.5869+537A>T (n.5869+537A>T)
2g.21010196T>CCA425345666APOBc.6672A>G (p.Lys2224=)
c.5869+537A>G (n.5869+537A>G)
2g.21010196T>GCA346001085APOBc.6672A>C (p.Lys2224Asn)
c.5869+537A>C (n.5869+537A>C)
2g.21010197T>ACA346001087APOBc.6671A>T (p.Lys2224Ile)
c.5869+536A>T (n.5869+536A>T)
2g.21010197T>CCA346001089APOBc.6671A>G (p.Lys2224Arg)
c.5869+536A>G (n.5869+536A>G)
2g.21010197T>GCA346001091APOBc.6671A>C (p.Lys2224Thr)
c.5869+536A>C (n.5869+536A>C)
gnomAD v4
2g.21010198T>ACA346001093APOBc.6670A>T (p.Lys2224Ter)
c.5869+535A>T (n.5869+535A>T)
2g.21010198T>CCA346001095APOBc.6670A>G (p.Lys2224Glu)
c.5869+535A>G (n.5869+535A>G)
2g.21010198T>GCA346001096APOBc.6670A>C (p.Lys2224Gln)
c.5869+535A>C (n.5869+535A>C)
2g.21010199T>ACA425345670APOBc.6669A>T (p.Val2223=)
c.5869+534A>T (n.5869+534A>T)
2g.21010199T>CCA425345668APOBc.6669A>G (p.Val2223=)
c.5869+534A>G (n.5869+534A>G)
gnomAD v4
2g.21010199T>GCA425345669APOBc.6669A>C (p.Val2223=)
c.5869+534A>C (n.5869+534A>C)
2g.21010200A=CA2493476586APOBc.6668T= (p.Val2223=)
c.5869+533T= (n.5869+533T=)
2g.21010200A>CCA346001101APOBc.6668T>G (p.Val2223Gly)
c.5869+533T>G (n.5869+533T>G)
dbSNP gnomAD v2 gnomAD v4
2g.21010200A>GCA346001099APOBc.6668T>C (p.Val2223Ala)
c.5869+533T>C (n.5869+533T>C)
2g.21010200A>TCA346001098APOBc.6668T>A (p.Val2223Glu)
c.5869+533T>A (n.5869+533T>A)
2g.21010201C>ACA346001102APOBc.6667G>T (p.Val2223Leu)
c.5869+532G>T (n.5869+532G>T)
2g.21010201C>GCA346001104APOBc.6667G>C (p.Val2223Leu)
c.5869+532G>C (n.5869+532G>C)
dbSNP
2g.21010201C>TCA346001105APOBc.6667G>A (p.Val2223Ile)
c.5869+532G>A (n.5869+532G>A)
2g.21010202T>ACA346001107APOBc.6666A>T (p.Leu2222Phe)
c.5869+531A>T (n.5869+531A>T)
2g.21010202T>CCA425345672APOBc.6666A>G (p.Leu2222=)
c.5869+531A>G (n.5869+531A>G)
gnomAD v4
2g.21010202T>GCA346001109APOBc.6666A>C (p.Leu2222Phe)
c.5869+531A>C (n.5869+531A>C)
2g.21010203A>CCA346001111APOBc.6665T>G (p.Leu2222Ter)
c.5869+530T>G (n.5869+530T>G)
COSMIC
2g.21010203A>GCA346001113APOBc.6665T>C (p.Leu2222Ser)
c.5869+530T>C (n.5869+530T>C)
2g.21010203A>TCA346001115APOBc.6665T>A (p.Leu2222Ter)
c.5869+530T>A (n.5869+530T>A)
2g.21010205delCA2586968874APOBc.6665del (p.Leu2222Ter)
c.5869+530del (n.5869+530del)
2g.21010204A>CCA346001117APOBc.6664T>G (p.Leu2222Val)
c.5869+529T>G (n.5869+529T>G)
2g.21010204A>GCA425345674APOBc.6664T>C (p.Leu2222=)
c.5869+529T>C (n.5869+529T>C)
2g.21010204A>TCA346001118APOBc.6664T>A (p.Leu2222Ile)
c.5869+529T>A (n.5869+529T>A)
2g.21010205A>CCA346001121APOBc.6663T>G (p.Asn2221Lys)
c.5869+528T>G (n.5869+528T>G)
2g.21010205A>GCA425345675APOBc.6663T>C (p.Asn2221=)
c.5869+528T>C (n.5869+528T>C)
2g.21010205A>TCA346001122APOBc.6663T>A (p.Asn2221Lys)
c.5869+528T>A (n.5869+528T>A)
2g.21010206T>ACA346001127APOBc.6662A>T (p.Asn2221Ile)
c.5869+527A>T (n.5869+527A>T)
2g.21010206T>CCA346001125APOBc.6662A>G (p.Asn2221Ser)
c.5869+527A>G (n.5869+527A>G)
2g.21010206T>GCA346001124APOBc.6662A>C (p.Asn2221Thr)
c.5869+527A>C (n.5869+527A>C)
2g.21010207T>ACA346001133APOBc.6661A>T (p.Asn2221Tyr)
c.5869+526A>T (n.5869+526A>T)
2g.21010207T>CCA346001130APOBc.6661A>G (p.Asn2221Asp)
c.5869+526A>G (n.5869+526A>G)
2g.21010207T>GCA346001131APOBc.6661A>C (p.Asn2221His)
c.5869+526A>C (n.5869+526A>C)
COSMIC
2g.21010208T>ACA425345677APOBc.6660A>T (p.Val2220=)
c.5869+525A>T (n.5869+525A>T)
2g.21010208T>CCA425345678APOBc.6660A>G (p.Val2220=)
c.5869+525A>G (n.5869+525A>G)
COSMIC
2g.21010208T>GCA425345679APOBc.6660A>C (p.Val2220=)
c.5869+525A>C (n.5869+525A>C)
2g.21010209A=CA2493476587APOBc.6659T= (p.Val2220=)
c.5869+524T= (n.5869+524T=)
2g.21010209A>CCA346001136APOBc.6659T>G (p.Val2220Gly)
c.5869+524T>G (n.5869+524T>G)
2g.21010209A>GCA063428APOBc.6659T>C (p.Val2220Ala)
c.5869+524T>C (n.5869+524T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.21010209A>TCA346001138APOBc.6659T>A (p.Val2220Glu)
c.5869+524T>A (n.5869+524T>A)
2g.21010210C>ACA346001140APOBc.6658G>T (p.Val2220Leu)
c.5869+523G>T (n.5869+523G>T)
dbSNP gnomAD v4
2g.21010210C=CA2493476588APOBc.6658G= (p.Val2220=)
c.5869+523G= (n.5869+523G=)
2g.21010210C>GCA346001142APOBc.6658G>C (p.Val2220Leu)
c.5869+523G>C (n.5869+523G>C)
2g.21010210C>TCA43505034APOBc.6658G>A (p.Val2220Ile)
c.5869+523G>A (n.5869+523G>A)
dbSNP gnomAD v4
2g.21010211A>CCA425345680APOBc.6657T>G (p.Arg2219=)
c.5869+522T>G (n.5869+522T>G)
2g.21010211A>GCA425345683APOBc.6657T>C (p.Arg2219=)
c.5869+522T>C (n.5869+522T>C)
2g.21010211A>TCA425345681APOBc.6657T>A (p.Arg2219=)
c.5869+522T>A (n.5869+522T>A)
2g.21010212C>ACA346001145APOBc.6656G>T (p.Arg2219Leu)
c.5869+521G>T (n.5869+521G>T)
gnomAD v4
2g.21010212C=CA2493476589APOBc.6656G= (p.Arg2219=)
c.5869+521G= (n.5869+521G=)
2g.21010212C>GCA346001147APOBc.6656G>C (p.Arg2219Pro)
c.5869+521G>C (n.5869+521G>C)
gnomAD v4
2g.21010212C>TCA063423APOBc.6656G>A (p.Arg2219His)
c.5869+521G>A (n.5869+521G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.21010213G>ACA063418APOBc.6655C>T (p.Arg2219Cys)
c.5869+520C>T (n.5869+520C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.21010213G>CCA346001152APOBc.6655C>G (p.Arg2219Gly)
c.5869+520C>G (n.5869+520C>G)
2g.21010213G=CA2493476590APOBc.6655C= (p.Arg2219=)
c.5869+520C= (n.5869+520C=)
2g.21010213G>TCA346001154APOBc.6655C>A (p.Arg2219Ser)
c.5869+520C>A (n.5869+520C>A)
gnomAD v4
2g.21010214G>ACA425345684APOBc.6654C>T (p.Ile2218=)
c.5869+519C>T (n.5869+519C>T)
gnomAD v4 COSMIC
2g.21010214G>CCA346001157APOBc.6654C>G (p.Ile2218Met)
c.5869+519C>G (n.5869+519C>G)
2g.21010214G=CA2493476591APOBc.6654C= (p.Ile2218=)
c.5869+519C= (n.5869+519C=)
2g.21010214G>TCA063413APOBc.6654C>A (p.Ile2218=)
c.5869+519C>A (n.5869+519C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.21010215A>CCA346001159APOBc.6653T>G (p.Ile2218Ser)
c.5869+518T>G (n.5869+518T>G)
2g.21010215A>GCA346001161APOBc.6653T>C (p.Ile2218Thr)
c.5869+518T>C (n.5869+518T>C)
2g.21010215A>TCA346001163APOBc.6653T>A (p.Ile2218Asn)
c.5869+518T>A (n.5869+518T>A)
2g.21010216T>ACA346001165APOBc.6652A>T (p.Ile2218Phe)
c.5869+517A>T (n.5869+517A>T)
2g.21010216T>CCA346001166APOBc.6652A>G (p.Ile2218Val)
c.5869+517A>G (n.5869+517A>G)
2g.21010216T>GCA346001168APOBc.6652A>C (p.Ile2218Leu)
c.5869+517A>C (n.5869+517A>C)

Number of alleles fetched