Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010080T>A | CA346000723 | APOB | c.6788A>T (p.Gln2263Leu) c.5869+653A>T (n.5869+653A>T) | |
2 | g.21010080T>C | CA346000724 | APOB | c.6788A>G (p.Gln2263Arg) c.5869+653A>G (n.5869+653A>G) | |
2 | g.21010080T>G | CA346000725 | APOB | c.6788A>C (p.Gln2263Pro) c.5869+653A>C (n.5869+653A>C) | |
2 | g.21010081G>A | CA346000726 | APOB | c.6787C>T (p.Gln2263Ter) c.5869+652C>T (n.5869+652C>T) | |
2 | g.21010081G>C | CA346000727 | APOB | c.6787C>G (p.Gln2263Glu) c.5869+652C>G (n.5869+652C>G) | |
2 | g.21010081G>T | CA346000728 | APOB | c.6787C>A (p.Gln2263Lys) c.5869+652C>A (n.5869+652C>A) | gnomAD v4 |
2 | g.21010082T>A | CA425345410 | APOB | c.6786A>T (p.Ile2262=) c.5869+651A>T (n.5869+651A>T) | |
2 | g.21010082T>C | CA346000729 | APOB | c.6786A>G (p.Ile2262Met) c.5869+651A>G (n.5869+651A>G) | |
2 | g.21010082T>G | CA425345409 | APOB | c.6786A>C (p.Ile2262=) c.5869+651A>C (n.5869+651A>C) | |
2 | g.21010083A>C | CA346000730 | APOB | c.6785T>G (p.Ile2262Arg) c.5869+650T>G (n.5869+650T>G) | |
2 | g.21010083A>G | CA346000731 | APOB | c.6785T>C (p.Ile2262Thr) c.5869+650T>C (n.5869+650T>C) | gnomAD v4 |
2 | g.21010083A>T | CA346000732 | APOB | c.6785T>A (p.Ile2262Lys) c.5869+650T>A (n.5869+650T>A) | |
2 | g.21010084T>A | CA346000733 | APOB | c.6784A>T (p.Ile2262Leu) c.5869+649A>T (n.5869+649A>T) | |
2 | g.21010084T>C | CA346000734 | APOB | c.6784A>G (p.Ile2262Val) c.5869+649A>G (n.5869+649A>G) | COSMIC |
2 | g.21010084T>G | CA346000735 | APOB | c.6784A>C (p.Ile2262Leu) c.5869+649A>C (n.5869+649A>C) | |
2 | g.21010085C>A | CA346000737 | APOB | c.6783G>T (p.Gln2261His) c.5869+648G>T (n.5869+648G>T) | dbSNP |
2 | g.21010085C= | CA2493476543 | APOB | c.6783G= (p.Gln2261=) c.5869+648G= (n.5869+648G=) | |
2 | g.21010085C>G | CA346000736 | APOB | c.6783G>C (p.Gln2261His) c.5869+648G>C (n.5869+648G>C) | |
2 | g.21010085C>T | CA425345414 | APOB | c.6783G>A (p.Gln2261=) c.5869+648G>A (n.5869+648G>A) | |
2 | g.21010086T>A | CA346000738 | APOB | c.6782A>T (p.Gln2261Leu) c.5869+647A>T (n.5869+647A>T) | |
2 | g.21010086T>C | CA43504967 | APOB | c.6782A>G (p.Gln2261Arg) c.5869+647A>G (n.5869+647A>G) | dbSNP |
2 | g.21010086T>G | CA346000739 | APOB | c.6782A>C (p.Gln2261Pro) c.5869+647A>C (n.5869+647A>C) | |
2 | g.21010086T= | CA2493476544 | APOB | c.6782A= (p.Gln2261=) c.5869+647A= (n.5869+647A=) | |
2 | g.21010087G>A | CA346000740 | APOB | c.6781C>T (p.Gln2261Ter) c.5869+646C>T (n.5869+646C>T) | |
2 | g.21010087G>C | CA346000741 | APOB | c.6781C>G (p.Gln2261Glu) c.5869+646C>G (n.5869+646C>G) | |
2 | g.21010087G>T | CA346000742 | APOB | c.6781C>A (p.Gln2261Lys) c.5869+646C>A (n.5869+646C>A) | |
2 | g.21010088G>A | CA425345416 | APOB | c.6780C>T (p.Ile2260=) c.5869+645C>T (n.5869+645C>T) | COSMIC |
2 | g.21010088G>C | CA346000743 | APOB | c.6780C>G (p.Ile2260Met) c.5869+645C>G (n.5869+645C>G) | |
2 | g.21010088G>T | CA425345419 | APOB | c.6780C>A (p.Ile2260=) c.5869+645C>A (n.5869+645C>A) | |
2 | g.21010089A>C | CA346000744 | APOB | c.6779T>G (p.Ile2260Ser) c.5869+644T>G (n.5869+644T>G) | |
2 | g.21010089A>G | CA346000745 | APOB | c.6779T>C (p.Ile2260Thr) c.5869+644T>C (n.5869+644T>C) | |
2 | g.21010089A>T | CA346000746 | APOB | c.6779T>A (p.Ile2260Asn) c.5869+644T>A (n.5869+644T>A) | |
2 | g.21010090T>A | CA346000747 | APOB | c.6778A>T (p.Ile2260Phe) c.5869+643A>T (n.5869+643A>T) | |
2 | g.21010090T>C | CA346000748 | APOB | c.6778A>G (p.Ile2260Val) c.5869+643A>G (n.5869+643A>G) | gnomAD v4 |
2 | g.21010090T>G | CA346000749 | APOB | c.6778A>C (p.Ile2260Leu) c.5869+643A>C (n.5869+643A>C) | |
2 | g.21010091T>A | CA346000751 | APOB | c.6777A>T (p.Arg2259Ser) c.5869+642A>T (n.5869+642A>T) | |
2 | g.21010091T>C | CA425345422 | APOB | c.6777A>G (p.Arg2259=) c.5869+642A>G (n.5869+642A>G) | |
2 | g.21010091T>G | CA346000750 | APOB | c.6777A>C (p.Arg2259Ser) c.5869+642A>C (n.5869+642A>C) | |
2 | g.21010092C>A | CA346000752 | APOB | c.6776G>T (p.Arg2259Ile) c.5869+641G>T (n.5869+641G>T) | |
2 | g.21010092C>G | CA346000753 | APOB | c.6776G>C (p.Arg2259Thr) c.5869+641G>C (n.5869+641G>C) | |
2 | g.21010092C>T | CA346000754 | APOB | c.6776G>A (p.Arg2259Lys) c.5869+641G>A (n.5869+641G>A) | |
2 | g.21010092_21010093insAAAA | CA2830541097 | APOB | c.6775_6776insTTTT (p.Arg2259IlefsTer13) c.5869+640_5869+641insTTTT (n.5869+640_5869+641insTTTT) | |
2 | g.21010093T>A | CA346000755 | APOB | c.6775A>T (p.Arg2259Ter) c.5869+640A>T (n.5869+640A>T) | |
2 | g.21010093T>C | CA346000756 | APOB | c.6775A>G (p.Arg2259Gly) c.5869+640A>G (n.5869+640A>G) | |
2 | g.21010093T>G | CA425345426 | APOB | c.6775A>C (p.Arg2259=) c.5869+640A>C (n.5869+640A>C) | |
2 | g.21010094G>A | CA425345427 | APOB | c.6774C>T (p.Ile2258=) c.5869+639C>T (n.5869+639C>T) | |
2 | g.21010094G>C | CA346000757 | APOB | c.6774C>G (p.Ile2258Met) c.5869+639C>G (n.5869+639C>G) | |
2 | g.21010094G>T | CA425345428 | APOB | c.6774C>A (p.Ile2258=) c.5869+639C>A (n.5869+639C>A) | |
2 | g.21010095A>C | CA346000760 | APOB | c.6773T>G (p.Ile2258Ser) c.5869+638T>G (n.5869+638T>G) | |
2 | g.21010095A>G | CA346000758 | APOB | c.6773T>C (p.Ile2258Thr) c.5869+638T>C (n.5869+638T>C) | |
2 | g.21010095A>T | CA346000759 | APOB | c.6773T>A (p.Ile2258Asn) c.5869+638T>A (n.5869+638T>A) | |
2 | g.21010095_21010097del | CA2830541098 | APOB | c.6771_6773del (p.Gln2257_Ile2258delinsHis) c.5869+636_5869+638del (n.5869+636_5869+638del) | |
2 | g.21010096T>A | CA346000761 | APOB | c.6772A>T (p.Ile2258Phe) c.5869+637A>T (n.5869+637A>T) | |
2 | g.21010096T>C | CA063519 | APOB | c.6772A>G (p.Ile2258Val) c.5869+637A>G (n.5869+637A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.21010096T>G | CA346000762 | APOB | c.6772A>C (p.Ile2258Leu) c.5869+637A>C (n.5869+637A>C) | |
2 | g.21010096T= | CA2493476545 | APOB | c.6772A= (p.Ile2258=) c.5869+637A= (n.5869+637A=) | |
2 | g.21010097T>A | CA346000763 | APOB | c.6771A>T (p.Gln2257His) c.5869+636A>T (n.5869+636A>T) | |
2 | g.21010097T>C | CA425345429 | APOB | c.6771A>G (p.Gln2257=) c.5869+636A>G (n.5869+636A>G) | |
2 | g.21010097T>G | CA063512 | APOB | c.6771A>C (p.Gln2257His) c.5869+636A>C (n.5869+636A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010097T= | CA2493476546 | APOB | c.6771A= (p.Gln2257=) c.5869+636A= (n.5869+636A=) | |
2 | g.21010098T>A | CA346000766 | APOB | c.6770A>T (p.Gln2257Leu) c.5869+635A>T (n.5869+635A>T) | |
2 | g.21010098T>C | CA346000764 | APOB | c.6770A>G (p.Gln2257Arg) c.5869+635A>G (n.5869+635A>G) | |
2 | g.21010098T>G | CA346000765 | APOB | c.6770A>C (p.Gln2257Pro) c.5869+635A>C (n.5869+635A>C) | |
2 | g.21010099G>A | CA346000767 | APOB | c.6769C>T (p.Gln2257Ter) c.5869+634C>T (n.5869+634C>T) | |
2 | g.21010099G>C | CA346000768 | APOB | c.6769C>G (p.Gln2257Glu) c.5869+634C>G (n.5869+634C>G) | |
2 | g.21010099G>T | CA346000769 | APOB | c.6769C>A (p.Gln2257Lys) c.5869+634C>A (n.5869+634C>A) | gnomAD v4 |
2 | g.21010100G>A | CA063503 | APOB | c.6768C>T (p.Tyr2256=) c.5869+633C>T (n.5869+633C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010100G>C | CA346000770 | APOB | c.6768C>G (p.Tyr2256Ter) c.5869+633C>G (n.5869+633C>G) | |
2 | g.21010100G= | CA2493476547 | APOB | c.6768C= (p.Tyr2256=) c.5869+633C= (n.5869+633C=) | |
2 | g.21010100G>T | CA346000771 | APOB | c.6768C>A (p.Tyr2256Ter) c.5869+633C>A (n.5869+633C>A) | |
2 | g.21010100_21010101insA | CA2830541099 | APOB | c.6767_6768insT (p.Gln2257ProfsTer14) c.5869+632_5869+633insT (n.5869+632_5869+633insT) | |
2 | g.21010101T>A | CA346000772 | APOB | c.6767A>T (p.Tyr2256Phe) c.5869+632A>T (n.5869+632A>T) | |
2 | g.21010101T>C | CA346000773 | APOB | c.6767A>G (p.Tyr2256Cys) c.5869+632A>G (n.5869+632A>G) | |
2 | g.21010101T>G | CA346000774 | APOB | c.6767A>C (p.Tyr2256Ser) c.5869+632A>C (n.5869+632A>C) | |
2 | g.21010102A>C | CA346000775 | APOB | c.6766T>G (p.Tyr2256Asp) c.5869+631T>G (n.5869+631T>G) | |
2 | g.21010102A>G | CA346000776 | APOB | c.6766T>C (p.Tyr2256His) c.5869+631T>C (n.5869+631T>C) | |
2 | g.21010102A>T | CA346000777 | APOB | c.6766T>A (p.Tyr2256Asn) c.5869+631T>A (n.5869+631T>A) | |
2 | g.21010103C>A | CA346000778 | APOB | c.6765G>T (p.Lys2255Asn) c.5869+630G>T (n.5869+630G>T) | |
2 | g.21010103C= | CA2493476548 | APOB | c.6765G= (p.Lys2255=) c.5869+630G= (n.5869+630G=) | |
2 | g.21010103C>G | CA346000779 | APOB | c.6765G>C (p.Lys2255Asn) c.5869+630G>C (n.5869+630G>C) | |
2 | g.21010103C>T | CA063496 | APOB | c.6765G>A (p.Lys2255=) c.5869+630G>A (n.5869+630G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010104T>A | CA346000780 | APOB | c.6764A>T (p.Lys2255Met) c.5869+629A>T (n.5869+629A>T) | |
2 | g.21010104T>C | CA346000782 | APOB | c.6764A>G (p.Lys2255Arg) c.5869+629A>G (n.5869+629A>G) | |
2 | g.21010104T>G | CA346000781 | APOB | c.6764A>C (p.Lys2255Thr) c.5869+629A>C (n.5869+629A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010104T= | CA2493476549 | APOB | c.6764A= (p.Lys2255=) c.5869+629A= (n.5869+629A=) | |
2 | g.21010105T>A | CA346000783 | APOB | c.6763A>T (p.Lys2255Ter) c.5869+628A>T (n.5869+628A>T) | |
2 | g.21010105T>C | CA346000784 | APOB | c.6763A>G (p.Lys2255Glu) c.5869+628A>G (n.5869+628A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010105T>G | CA346000785 | APOB | c.6763A>C (p.Lys2255Gln) c.5869+628A>C (n.5869+628A>C) | |
2 | g.21010105T= | CA2493476550 | APOB | c.6763A= (p.Lys2255=) c.5869+628A= (n.5869+628A=) | |
2 | g.21010106A>C | CA425345435 | APOB | c.6762T>G (p.Thr2254=) c.5869+627T>G (n.5869+627T>G) | |
2 | g.21010106A>G | CA425345436 | APOB | c.6762T>C (p.Thr2254=) c.5869+627T>C (n.5869+627T>C) | |
2 | g.21010106A>T | CA425345437 | APOB | c.6762T>A (p.Thr2254=) c.5869+627T>A (n.5869+627T>A) | |
2 | g.21010107G>A | CA346000786 | APOB | c.6761C>T (p.Thr2254Ile) c.5869+626C>T (n.5869+626C>T) | |
2 | g.21010107G>C | CA346000787 | APOB | c.6761C>G (p.Thr2254Ser) c.5869+626C>G (n.5869+626C>G) | gnomAD v4 |
2 | g.21010107G>T | CA346000788 | APOB | c.6761C>A (p.Thr2254Asn) c.5869+626C>A (n.5869+626C>A) | |
2 | g.21010108T>A | CA346000789 | APOB | c.6760A>T (p.Thr2254Ser) c.5869+625A>T (n.5869+625A>T) | ClinVar COSMIC |
2 | g.21010108T>C | CA346000790 | APOB | c.6760A>G (p.Thr2254Ala) c.5869+625A>G (n.5869+625A>G) | dbSNP |
2 | g.21010108T>G | CA346000791 | APOB | c.6760A>C (p.Thr2254Pro) c.5869+625A>C (n.5869+625A>C) | |
2 | g.21010108T= | CA2493476551 | APOB | c.6760A= (p.Thr2254=) c.5869+625A= (n.5869+625A=) | |
2 | g.21010109A>C | CA346000792 | APOB | c.6759T>G (p.Asp2253Glu) c.5869+624T>G (n.5869+624T>G) | |
2 | g.21010109A>G | CA425345442 | APOB | c.6759T>C (p.Asp2253=) c.5869+624T>C (n.5869+624T>C) | gnomAD v4 |
2 | g.21010109A>T | CA346000793 | APOB | c.6759T>A (p.Asp2253Glu) c.5869+624T>A (n.5869+624T>A) | |
2 | g.21010110del | CA2830541100 | APOB | c.6758del (p.Asp2253ValfsTer24) c.5869+623del (n.5869+623del) | |
2 | g.21010110T>A | CA346000796 | APOB | c.6758A>T (p.Asp2253Val) c.5869+623A>T (n.5869+623A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010110T>C | CA346000795 | APOB | c.6758A>G (p.Asp2253Gly) c.5869+623A>G (n.5869+623A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010110T>G | CA346000794 | APOB | c.6758A>C (p.Asp2253Ala) c.5869+623A>C (n.5869+623A>C) | |
2 | g.21010110T= | CA2493476552 | APOB | c.6758A= (p.Asp2253=) c.5869+623A= (n.5869+623A=) | |
2 | g.21010111C>A | CA346000797 | APOB | c.6757G>T (p.Asp2253Tyr) c.5869+622G>T (n.5869+622G>T) | |
2 | g.21010111C>G | CA346000798 | APOB | c.6757G>C (p.Asp2253His) c.5869+622G>C (n.5869+622G>C) | |
2 | g.21010111C>T | CA346000799 | APOB | c.6757G>A (p.Asp2253Asn) c.5869+622G>A (n.5869+622G>A) | |
2 | g.21010112C>A | CA425345445 | APOB | c.6756G>T (p.Val2252=) c.5869+621G>T (n.5869+621G>T) | |
2 | g.21010112C>G | CA425345447 | APOB | c.6756G>C (p.Val2252=) c.5869+621G>C (n.5869+621G>C) | |
2 | g.21010112C>T | CA425345448 | APOB | c.6756G>A (p.Val2252=) c.5869+621G>A (n.5869+621G>A) | gnomAD v4 |
2 | g.21010113A>C | CA346000800 | APOB | c.6755T>G (p.Val2252Gly) c.5869+620T>G (n.5869+620T>G) | |
2 | g.21010113A>G | CA346000801 | APOB | c.6755T>C (p.Val2252Ala) c.5869+620T>C (n.5869+620T>C) | |
2 | g.21010113A>T | CA346000802 | APOB | c.6755T>A (p.Val2252Glu) c.5869+620T>A (n.5869+620T>A) | |
2 | g.21010113_21010114insAAT | CA2830541101 | APOB | c.6754_6755insATT (p.Val2252delinsAspLeu) c.5869+619_5869+620insATT (n.5869+619_5869+620insATT) | |
2 | g.21010114C>A | CA063487 | APOB | c.6754G>T (p.Val2252Leu) c.5869+619G>T (n.5869+619G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010114C= | CA2493476553 | APOB | c.6754G= (p.Val2252=) c.5869+619G= (n.5869+619G=) | |
2 | g.21010114C>G | CA346000803 | APOB | c.6754G>C (p.Val2252Leu) c.5869+619G>C (n.5869+619G>C) | |
2 | g.21010114C>T | CA43504995 | APOB | c.6754G>A (p.Val2252Met) c.5869+619G>A (n.5869+619G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010115A>C | CA346000804 | APOB | c.6753T>G (p.Asn2251Lys) c.5869+618T>G (n.5869+618T>G) | |
2 | g.21010115A>G | CA425345450 | APOB | c.6753T>C (p.Asn2251=) c.5869+618T>C (n.5869+618T>C) | |
2 | g.21010115A>T | CA346000805 | APOB | c.6753T>A (p.Asn2251Lys) c.5869+618T>A (n.5869+618T>A) | |
2 | g.21010116T>A | CA346000808 | APOB | c.6752A>T (p.Asn2251Ile) c.5869+617A>T (n.5869+617A>T) | |
2 | g.21010116T>C | CA346000807 | APOB | c.6752A>G (p.Asn2251Ser) c.5869+617A>G (n.5869+617A>G) | ClinVar gnomAD v4 |
2 | g.21010116T>G | CA346000806 | APOB | c.6752A>C (p.Asn2251Thr) c.5869+617A>C (n.5869+617A>C) | |
2 | g.21010116_21010119del | CA2830541102 | APOB | c.6749_6752del (p.Gln2250LeufsTer26) c.5869+614_5869+617del (n.5869+614_5869+617del) | |
2 | g.21010117T>A | CA346000809 | APOB | c.6751A>T (p.Asn2251Tyr) c.5869+616A>T (n.5869+616A>T) | |
2 | g.21010117T>C | CA346000810 | APOB | c.6751A>G (p.Asn2251Asp) c.5869+616A>G (n.5869+616A>G) | |
2 | g.21010117T>G | CA346000811 | APOB | c.6751A>C (p.Asn2251His) c.5869+616A>C (n.5869+616A>C) | gnomAD v4 |
2 | g.21010118T>A | CA346000812 | APOB | c.6750A>T (p.Gln2250His) c.5869+615A>T (n.5869+615A>T) | |
2 | g.21010118T>C | CA425345452 | APOB | c.6750A>G (p.Gln2250=) c.5869+615A>G (n.5869+615A>G) | |
2 | g.21010118T>G | CA346000813 | APOB | c.6750A>C (p.Gln2250His) c.5869+615A>C (n.5869+615A>C) | |
2 | g.21010119T>A | CA346000814 | APOB | c.6749A>T (p.Gln2250Leu) c.5869+614A>T (n.5869+614A>T) | |
2 | g.21010119T>C | CA346000815 | APOB | c.6749A>G (p.Gln2250Arg) c.5869+614A>G (n.5869+614A>G) | |
2 | g.21010119T>G | CA346000816 | APOB | c.6749A>C (p.Gln2250Pro) c.5869+614A>C (n.5869+614A>C) | |
2 | g.21010120G>A | CA346000817 | APOB | c.6748C>T (p.Gln2250Ter) c.5869+613C>T (n.5869+613C>T) | |
2 | g.21010120G>C | CA346000818 | APOB | c.6748C>G (p.Gln2250Glu) c.5869+613C>G (n.5869+613C>G) | |
2 | g.21010120G>T | CA346000819 | APOB | c.6748C>A (p.Gln2250Lys) c.5869+613C>A (n.5869+613C>A) | |
2 | g.21010121A>C | CA346000820 | APOB | c.6747T>G (p.Ile2249Met) c.5869+612T>G (n.5869+612T>G) | |
2 | g.21010121A>G | CA425345456 | APOB | c.6747T>C (p.Ile2249=) c.5869+612T>C (n.5869+612T>C) | |
2 | g.21010121A>T | CA425345454 | APOB | c.6747T>A (p.Ile2249=) c.5869+612T>A (n.5869+612T>A) | |
2 | g.21010122A= | CA2493476554 | APOB | c.6746T= (p.Ile2249=) c.5869+611T= (n.5869+611T=) | |
2 | g.21010122A>C | CA346000822 | APOB | c.6746T>G (p.Ile2249Ser) c.5869+611T>G (n.5869+611T>G) | |
2 | g.21010122A>G | CA063482 | APOB | c.6746T>C (p.Ile2249Thr) c.5869+611T>C (n.5869+611T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010122A>T | CA346000821 | APOB | c.6746T>A (p.Ile2249Asn) c.5869+611T>A (n.5869+611T>A) | |
2 | g.21010123T>A | CA346000823 | APOB | c.6745A>T (p.Ile2249Phe) c.5869+610A>T (n.5869+610A>T) | |
2 | g.21010123T>C | CA346000824 | APOB | c.6745A>G (p.Ile2249Val) c.5869+610A>G (n.5869+610A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010123T>G | CA346000825 | APOB | c.6745A>C (p.Ile2249Leu) c.5869+610A>C (n.5869+610A>C) | |
2 | g.21010123T= | CA2493476555 | APOB | c.6745A= (p.Ile2249=) c.5869+610A= (n.5869+610A=) | |
2 | g.21010124C>A | CA346000826 | APOB | c.6744G>T (p.Trp2248Cys) c.5869+609G>T (n.5869+609G>T) | |
2 | g.21010124C>G | CA346000827 | APOB | c.6744G>C (p.Trp2248Cys) c.5869+609G>C (n.5869+609G>C) | gnomAD v4 |
2 | g.21010124C>T | CA346000828 | APOB | c.6744G>A (p.Trp2248Ter) c.5869+609G>A (n.5869+609G>A) | |
2 | g.21010125C>A | CA346000829 | APOB | c.6743G>T (p.Trp2248Leu) c.5869+608G>T (n.5869+608G>T) | |
2 | g.21010125C>G | CA346000830 | APOB | c.6743G>C (p.Trp2248Ser) c.5869+608G>C (n.5869+608G>C) | |
2 | g.21010125C>T | CA346000831 | APOB | c.6743G>A (p.Trp2248Ter) c.5869+608G>A (n.5869+608G>A) | gnomAD v4 |
2 | g.21010126A>C | CA346000832 | APOB | c.6742T>G (p.Trp2248Gly) c.5869+607T>G (n.5869+607T>G) | |
2 | g.21010126A>G | CA346000833 | APOB | c.6742T>C (p.Trp2248Arg) c.5869+607T>C (n.5869+607T>C) | |
2 | g.21010126A>T | CA346000834 | APOB | c.6742T>A (p.Trp2248Arg) c.5869+607T>A (n.5869+607T>A) | |
2 | g.21010127G>A | CA425345459 | APOB | c.6741C>T (p.Ser2247=) c.5869+606C>T (n.5869+606C>T) | |
2 | g.21010127G>C | CA425345461 | APOB | c.6741C>G (p.Ser2247=) c.5869+606C>G (n.5869+606C>G) | |
2 | g.21010127G>T | CA425345460 | APOB | c.6741C>A (p.Ser2247=) c.5869+606C>A (n.5869+606C>A) | |
2 | g.21010128G>A | CA346000837 | APOB | c.6740C>T (p.Ser2247Phe) c.5869+605C>T (n.5869+605C>T) | COSMIC |
2 | g.21010128G>C | CA346000836 | APOB | c.6740C>G (p.Ser2247Cys) c.5869+605C>G (n.5869+605C>G) | |
2 | g.21010128G>T | CA346000835 | APOB | c.6740C>A (p.Ser2247Tyr) c.5869+605C>A (n.5869+605C>A) | |
2 | g.21010129A>C | CA346000838 | APOB | c.6739T>G (p.Ser2247Ala) c.5869+604T>G (n.5869+604T>G) | |
2 | g.21010129A>G | CA346000840 | APOB | c.6739T>C (p.Ser2247Pro) c.5869+604T>C (n.5869+604T>C) | |
2 | g.21010129A>T | CA346000839 | APOB | c.6739T>A (p.Ser2247Thr) c.5869+604T>A (n.5869+604T>A) | |
2 | g.21010130T>A | CA425345463 | APOB | c.6738A>T (p.Ala2246=) c.5869+603A>T (n.5869+603A>T) | |
2 | g.21010130T>C | CA425345464 | APOB | c.6738A>G (p.Ala2246=) c.5869+603A>G (n.5869+603A>G) | |
2 | g.21010130T>G | CA425345465 | APOB | c.6738A>C (p.Ala2246=) c.5869+603A>C (n.5869+603A>C) | |
2 | g.21010131G>A | CA346000841 | APOB | c.6737C>T (p.Ala2246Val) c.5869+602C>T (n.5869+602C>T) | |
2 | g.21010131G>C | CA346000842 | APOB | c.6737C>G (p.Ala2246Gly) c.5869+602C>G (n.5869+602C>G) | |
2 | g.21010131G>T | CA346000843 | APOB | c.6737C>A (p.Ala2246Glu) c.5869+602C>A (n.5869+602C>A) | |
2 | g.21010132C>A | CA346000844 | APOB | c.6736G>T (p.Ala2246Ser) c.5869+601G>T (n.5869+601G>T) | dbSNP gnomAD v4 |
2 | g.21010132C= | CA2493476556 | APOB | c.6736G= (p.Ala2246=) c.5869+601G= (n.5869+601G=) | |
2 | g.21010132C>G | CA346000845 | APOB | c.6736G>C (p.Ala2246Pro) c.5869+601G>C (n.5869+601G>C) | gnomAD v4 |
2 | g.21010132C>T | CA346000846 | APOB | c.6736G>A (p.Ala2246Thr) c.5869+601G>A (n.5869+601G>A) | |
2 | g.21010133A>C | CA425345470 | APOB | c.6735T>G (p.Thr2245=) c.5869+600T>G (n.5869+600T>G) | |
2 | g.21010133A>G | CA425345471 | APOB | c.6735T>C (p.Thr2245=) c.5869+600T>C (n.5869+600T>C) | |
2 | g.21010133A>T | CA425345473 | APOB | c.6735T>A (p.Thr2245=) c.5869+600T>A (n.5869+600T>A) | |
2 | g.21010134G>A | CA43505001 | APOB | c.6734C>T (p.Thr2245Ile) c.5869+599C>T (n.5869+599C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010134G>C | CA346000848 | APOB | c.6734C>G (p.Thr2245Ser) c.5869+599C>G (n.5869+599C>G) | |
2 | g.21010134G= | CA2493476557 | APOB | c.6734C= (p.Thr2245=) c.5869+599C= (n.5869+599C=) | |
2 | g.21010134G>T | CA346000847 | APOB | c.6734C>A (p.Thr2245Asn) c.5869+599C>A (n.5869+599C>A) | gnomAD v4 |
2 | g.21010135T>A | CA346000849 | APOB | c.6733A>T (p.Thr2245Ser) c.5869+598A>T (n.5869+598A>T) | |
2 | g.21010135T>C | CA346000850 | APOB | c.6733A>G (p.Thr2245Ala) c.5869+598A>G (n.5869+598A>G) | dbSNP gnomAD v4 |
2 | g.21010135T>G | CA346000851 | APOB | c.6733A>C (p.Thr2245Pro) c.5869+598A>C (n.5869+598A>C) | |
2 | g.21010135T= | CA2493476558 | APOB | c.6733A= (p.Thr2245=) c.5869+598A= (n.5869+598A=) | |
2 | g.21010136A= | CA2493476559 | APOB | c.6732T= (p.Ser2244=) c.5869+597T= (n.5869+597T=) | |
2 | g.21010136A>C | CA346000852 | APOB | c.6732T>G (p.Ser2244Arg) c.5869+597T>G (n.5869+597T>G) | |
2 | g.21010136A>G | CA063473 | APOB | c.6732T>C (p.Ser2244=) c.5869+597T>C (n.5869+597T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010136A>T | CA346000853 | APOB | c.6732T>A (p.Ser2244Arg) c.5869+597T>A (n.5869+597T>A) | |
2 | g.21010137C>A | CA346000854 | APOB | c.6731G>T (p.Ser2244Ile) c.5869+596G>T (n.5869+596G>T) | COSMIC |
2 | g.21010137C= | CA2493476560 | APOB | c.6731G= (p.Ser2244=) c.5869+596G= (n.5869+596G=) | |
2 | g.21010137C>G | CA346000855 | APOB | c.6731G>C (p.Ser2244Thr) c.5869+596G>C (n.5869+596G>C) | |
2 | g.21010137C>T | CA063467 | APOB | c.6731G>A (p.Ser2244Asn) c.5869+596G>A (n.5869+596G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010138T>A | CA346000856 | APOB | c.6730A>T (p.Ser2244Cys) c.5869+595A>T (n.5869+595A>T) | |
2 | g.21010138T>C | CA346000857 | APOB | c.6730A>G (p.Ser2244Gly) c.5869+595A>G (n.5869+595A>G) | |
2 | g.21010138T>G | CA346000858 | APOB | c.6730A>C (p.Ser2244Arg) c.5869+595A>C (n.5869+595A>C) | |
2 | g.21010139A= | CA2493476561 | APOB | c.6729T= (p.Ser2243=) c.5869+594T= (n.5869+594T=) | |
2 | g.21010139A>C | CA346000859 | APOB | c.6729T>G (p.Ser2243Arg) c.5869+594T>G (n.5869+594T>G) | dbSNP |
2 | g.21010139A>G | CA425345481 | APOB | c.6729T>C (p.Ser2243=) c.5869+594T>C (n.5869+594T>C) | dbSNP |
2 | g.21010139A>T | CA346000860 | APOB | c.6729T>A (p.Ser2243Arg) c.5869+594T>A (n.5869+594T>A) | |
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) |