Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010048G>A | CA346000623 | APOB | c.6820C>T (p.Gln2274Ter) c.5869+685C>T (n.5869+685C>T) | gnomAD v4 |
2 | g.21010048G>C | CA346000625 | APOB | c.6820C>G (p.Gln2274Glu) c.5869+685C>G (n.5869+685C>G) | |
2 | g.21010048G>T | CA346000622 | APOB | c.6820C>A (p.Gln2274Lys) c.5869+685C>A (n.5869+685C>A) | |
2 | g.21010049T>A | CA425345909 | APOB | c.6819A>T (p.Ile2273=) c.5869+684A>T (n.5869+684A>T) | |
2 | g.21010049T>C | CA346000627 | APOB | c.6819A>G (p.Ile2273Met) c.5869+684A>G (n.5869+684A>G) | gnomAD v4 |
2 | g.21010049T>G | CA425345910 | APOB | c.6819A>C (p.Ile2273=) c.5869+684A>C (n.5869+684A>C) | |
2 | g.21010050_21010051del | CA2658056041 | APOB | c.6818_6819del (p.Ile2273ThrfsTer17) c.5869+683_5869+684del (n.5869+683_5869+684del) | gnomAD v4 |
2 | g.21010050A= | CA2493476528 | APOB | c.6818T= (p.Ile2273=) c.5869+683T= (n.5869+683T=) | |
2 | g.21010050A>C | CA346000629 | APOB | c.6818T>G (p.Ile2273Arg) c.5869+683T>G (n.5869+683T>G) | |
2 | g.21010050A>G | CA063580 | APOB | c.6818T>C (p.Ile2273Thr) c.5869+683T>C (n.5869+683T>C) | dbSNP ExAC |
2 | g.21010050A>T | CA346000633 | APOB | c.6818T>A (p.Ile2273Lys) c.5869+683T>A (n.5869+683T>A) | |
2 | g.21010051T>A | CA346000639 | APOB | c.6817A>T (p.Ile2273Leu) c.5869+682A>T (n.5869+682A>T) | |
2 | g.21010051T>C | CA346000637 | APOB | c.6817A>G (p.Ile2273Val) c.5869+682A>G (n.5869+682A>G) | |
2 | g.21010051T>G | CA346000635 | APOB | c.6817A>C (p.Ile2273Leu) c.5869+682A>C (n.5869+682A>C) | |
2 | g.21010052G>A | CA063572 | APOB | c.6816C>T (p.His2272=) c.5869+681C>T (n.5869+681C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010052G>C | CA346000642 | APOB | c.6816C>G (p.His2272Gln) c.5869+681C>G (n.5869+681C>G) | |
2 | g.21010052G= | CA2493476529 | APOB | c.6816C= (p.His2272=) c.5869+681C= (n.5869+681C=) | |
2 | g.21010052G>T | CA346000644 | APOB | c.6816C>A (p.His2272Gln) c.5869+681C>A (n.5869+681C>A) | |
2 | g.21010053T>A | CA346000646 | APOB | c.6815A>T (p.His2272Leu) c.5869+680A>T (n.5869+680A>T) | |
2 | g.21010053T>C | CA346000648 | APOB | c.6815A>G (p.His2272Arg) c.5869+680A>G (n.5869+680A>G) | ClinVar dbSNP |
2 | g.21010053T>G | CA346000649 | APOB | c.6815A>C (p.His2272Pro) c.5869+680A>C (n.5869+680A>C) | |
2 | g.21010053T= | CA2493476530 | APOB | c.6815A= (p.His2272=) c.5869+680A= (n.5869+680A=) | |
2 | g.21010054G>A | CA346000652 | APOB | c.6814C>T (p.His2272Tyr) c.5869+679C>T (n.5869+679C>T) | dbSNP gnomAD v4 |
2 | g.21010054G>C | CA346000655 | APOB | c.6814C>G (p.His2272Asp) c.5869+679C>G (n.5869+679C>G) | |
2 | g.21010054G= | CA2493476531 | APOB | c.6814C= (p.His2272=) c.5869+679C= (n.5869+679C=) | |
2 | g.21010054G>T | CA346000654 | APOB | c.6814C>A (p.His2272Asn) c.5869+679C>A (n.5869+679C>A) | dbSNP |
2 | g.21010055T>A | CA346000657 | APOB | c.6813A>T (p.Arg2271Ser) c.5869+678A>T (n.5869+678A>T) | |
2 | g.21010055T>C | CA425345357 | APOB | c.6813A>G (p.Arg2271=) c.5869+678A>G (n.5869+678A>G) | dbSNP |
2 | g.21010055T>G | CA346000659 | APOB | c.6813A>C (p.Arg2271Ser) c.5869+678A>C (n.5869+678A>C) | |
2 | g.21010055T= | CA2493476532 | APOB | c.6813A= (p.Arg2271=) c.5869+678A= (n.5869+678A=) | |
2 | g.21010056C>A | CA346000661 | APOB | c.6812G>T (p.Arg2271Ile) c.5869+677G>T (n.5869+677G>T) | |
2 | g.21010056C= | CA2493476533 | APOB | c.6812G= (p.Arg2271=) c.5869+677G= (n.5869+677G=) | |
2 | g.21010056C>G | CA346000662 | APOB | c.6812G>C (p.Arg2271Thr) c.5869+677G>C (n.5869+677G>C) | |
2 | g.21010056C>T | CA346000664 | APOB | c.6812G>A (p.Arg2271Lys) c.5869+677G>A (n.5869+677G>A) | dbSNP |
2 | g.21010057T>A | CA346000666 | APOB | c.6811A>T (p.Arg2271Ter) c.5869+676A>T (n.5869+676A>T) | |
2 | g.21010057T>C | CA346000667 | APOB | c.6811A>G (p.Arg2271Gly) c.5869+676A>G (n.5869+676A>G) | |
2 | g.21010057T>G | CA425345362 | APOB | c.6811A>C (p.Arg2271=) c.5869+676A>C (n.5869+676A>C) | |
2 | g.21010058C>A | CA346000669 | APOB | c.6810G>T (p.Lys2270Asn) c.5869+675G>T (n.5869+675G>T) | |
2 | g.21010058C>G | CA346000671 | APOB | c.6810G>C (p.Lys2270Asn) c.5869+675G>C (n.5869+675G>C) | |
2 | g.21010058C>T | CA425345364 | APOB | c.6810G>A (p.Lys2270=) c.5869+675G>A (n.5869+675G>A) | |
2 | g.21010059T>A | CA346000673 | APOB | c.6809A>T (p.Lys2270Met) c.5869+674A>T (n.5869+674A>T) | |
2 | g.21010059T>C | CA346000674 | APOB | c.6809A>G (p.Lys2270Arg) c.5869+674A>G (n.5869+674A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010059T>G | CA346000676 | APOB | c.6809A>C (p.Lys2270Thr) c.5869+674A>C (n.5869+674A>C) | |
2 | g.21010059T= | CA2493476534 | APOB | c.6809A= (p.Lys2270=) c.5869+674A= (n.5869+674A=) | |
2 | g.21010060T>A | CA346000678 | APOB | c.6808A>T (p.Lys2270Ter) c.5869+673A>T (n.5869+673A>T) | |
2 | g.21010060T>C | CA346000679 | APOB | c.6808A>G (p.Lys2270Glu) c.5869+673A>G (n.5869+673A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.21010060T>G | CA346000680 | APOB | c.6808A>C (p.Lys2270Gln) c.5869+673A>C (n.5869+673A>C) | |
2 | g.21010060T= | CA2493476535 | APOB | c.6808A= (p.Lys2270=) c.5869+673A= (n.5869+673A=) | |
2 | g.21010061A= | CA2493476536 | APOB | c.6807T= (p.Leu2269=) c.5869+672T= (n.5869+672T=) | |
2 | g.21010061A>C | CA425345370 | APOB | c.6807T>G (p.Leu2269=) c.5869+672T>G (n.5869+672T>G) | |
2 | g.21010061A>G | CA425345373 | APOB | c.6807T>C (p.Leu2269=) c.5869+672T>C (n.5869+672T>C) | dbSNP gnomAD v4 |
2 | g.21010061A>T | CA425345371 | APOB | c.6807T>A (p.Leu2269=) c.5869+672T>A (n.5869+672T>A) | |
2 | g.21010062A>C | CA346000681 | APOB | c.6806T>G (p.Leu2269Arg) c.5869+671T>G (n.5869+671T>G) | |
2 | g.21010062A>G | CA346000683 | APOB | c.6806T>C (p.Leu2269Pro) c.5869+671T>C (n.5869+671T>C) | |
2 | g.21010062A>T | CA346000682 | APOB | c.6806T>A (p.Leu2269His) c.5869+671T>A (n.5869+671T>A) | |
2 | g.21010063G>A | CA346000684 | APOB | c.6805C>T (p.Leu2269Phe) c.5869+670C>T (n.5869+670C>T) | |
2 | g.21010063G>C | CA346000685 | APOB | c.6805C>G (p.Leu2269Val) c.5869+670C>G (n.5869+670C>G) | |
2 | g.21010063G>T | CA346000686 | APOB | c.6805C>A (p.Leu2269Ile) c.5869+670C>A (n.5869+670C>A) | |
2 | g.21010064C>A | CA346000687 | APOB | c.6804G>T (p.Gln2268His) c.5869+669G>T (n.5869+669G>T) | |
2 | g.21010064C>G | CA346000688 | APOB | c.6804G>C (p.Gln2268His) c.5869+669G>C (n.5869+669G>C) | COSMIC |
2 | g.21010064C>T | CA425345381 | APOB | c.6804G>A (p.Gln2268=) c.5869+669G>A (n.5869+669G>A) | |
2 | g.21010065T>A | CA346000689 | APOB | c.6803A>T (p.Gln2268Leu) c.5869+668A>T (n.5869+668A>T) | |
2 | g.21010065T>C | CA346000690 | APOB | c.6803A>G (p.Gln2268Arg) c.5869+668A>G (n.5869+668A>G) | |
2 | g.21010065T>G | CA346000691 | APOB | c.6803A>C (p.Gln2268Pro) c.5869+668A>C (n.5869+668A>C) | |
2 | g.21010066G>A | CA346000692 | APOB | c.6802C>T (p.Gln2268Ter) c.5869+667C>T (n.5869+667C>T) | |
2 | g.21010066G>C | CA346000693 | APOB | c.6802C>G (p.Gln2268Glu) c.5869+667C>G (n.5869+667C>G) | |
2 | g.21010066G>T | CA346000694 | APOB | c.6802C>A (p.Gln2268Lys) c.5869+667C>A (n.5869+667C>A) | |
2 | g.21010067C>A | CA346000695 | APOB | c.6801G>T (p.Gln2267His) c.5869+666G>T (n.5869+666G>T) | |
2 | g.21010067C= | CA2493476537 | APOB | c.6801G= (p.Gln2267=) c.5869+666G= (n.5869+666G=) | |
2 | g.21010067C>G | CA346000696 | APOB | c.6801G>C (p.Gln2267His) c.5869+666G>C (n.5869+666G>C) | |
2 | g.21010067C>T | CA425345387 | APOB | c.6801G>A (p.Gln2267=) c.5869+666G>A (n.5869+666G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010068T>A | CA346000697 | APOB | c.6800A>T (p.Gln2267Leu) c.5869+665A>T (n.5869+665A>T) | |
2 | g.21010068T>C | CA346000698 | APOB | c.6800A>G (p.Gln2267Arg) c.5869+665A>G (n.5869+665A>G) | dbSNP |
2 | g.21010068T>G | CA346000699 | APOB | c.6800A>C (p.Gln2267Pro) c.5869+665A>C (n.5869+665A>C) | gnomAD v4 |
2 | g.21010069del | CA2658056043 | APOB | c.6799del (p.Gln2267SerfsTer10) c.5869+664del (n.5869+664del) | gnomAD v4 |
2 | g.21010069G>A | CA346000700 | APOB | c.6799C>T (p.Gln2267Ter) c.5869+664C>T (n.5869+664C>T) | ClinVar |
2 | g.21010069G>C | CA346000701 | APOB | c.6799C>G (p.Gln2267Glu) c.5869+664C>G (n.5869+664C>G) | |
2 | g.21010069G>T | CA346000702 | APOB | c.6799C>A (p.Gln2267Lys) c.5869+664C>A (n.5869+664C>A) | |
2 | g.21010070C>A | CA425345390 | APOB | c.6798G>T (p.Leu2266=) c.5869+663G>T (n.5869+663G>T) | |
2 | g.21010070C= | CA2493476538 | APOB | c.6798G= (p.Leu2266=) c.5869+663G= (n.5869+663G=) | |
2 | g.21010070C>G | CA425345391 | APOB | c.6798G>C (p.Leu2266=) c.5869+663G>C (n.5869+663G>C) | |
2 | g.21010070C>T | CA063565 | APOB | c.6798G>A (p.Leu2266=) c.5869+663G>A (n.5869+663G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010071A= | CA2493476539 | APOB | c.6797T= (p.Leu2266=) c.5869+662T= (n.5869+662T=) | |
2 | g.21010071A>C | CA063559 | APOB | c.6797T>G (p.Leu2266Arg) c.5869+662T>G (n.5869+662T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010071A>G | CA346000703 | APOB | c.6797T>C (p.Leu2266Pro) c.5869+662T>C (n.5869+662T>C) | |
2 | g.21010071A>T | CA346000704 | APOB | c.6797T>A (p.Leu2266Gln) c.5869+662T>A (n.5869+662T>A) | gnomAD v3 gnomAD v4 |
2 | g.21010072G>A | CA063553 | APOB | c.6796C>T (p.Leu2266=) c.5869+661C>T (n.5869+661C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010072G>C | CA346000705 | APOB | c.6796C>G (p.Leu2266Val) c.5869+661C>G (n.5869+661C>G) | gnomAD v4 |
2 | g.21010072G= | CA2493476540 | APOB | c.6796C= (p.Leu2266=) c.5869+661C= (n.5869+661C=) | |
2 | g.21010072G>T | CA346000706 | APOB | c.6796C>A (p.Leu2266Met) c.5869+661C>A (n.5869+661C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010073T>A | CA346000707 | APOB | c.6795A>T (p.Lys2265Asn) c.5869+660A>T (n.5869+660A>T) | |
2 | g.21010073T>C | CA425345396 | APOB | c.6795A>G (p.Lys2265=) c.5869+660A>G (n.5869+660A>G) | |
2 | g.21010073T>G | CA346000708 | APOB | c.6795A>C (p.Lys2265Asn) c.5869+660A>C (n.5869+660A>C) | |
2 | g.21010074T>A | CA346000709 | APOB | c.6794A>T (p.Lys2265Ile) c.5869+659A>T (n.5869+659A>T) | |
2 | g.21010074T>C | CA346000710 | APOB | c.6794A>G (p.Lys2265Arg) c.5869+659A>G (n.5869+659A>G) | |
2 | g.21010074T>G | CA063545 | APOB | c.6794A>C (p.Lys2265Thr) c.5869+659A>C (n.5869+659A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010074T= | CA2493476541 | APOB | c.6794A= (p.Lys2265=) c.5869+659A= (n.5869+659A=) | |
2 | g.21010075T>A | CA346000711 | APOB | c.6793A>T (p.Lys2265Ter) c.5869+658A>T (n.5869+658A>T) | |
2 | g.21010075T>C | CA346000712 | APOB | c.6793A>G (p.Lys2265Glu) c.5869+658A>G (n.5869+658A>G) | |
2 | g.21010075T>G | CA346000713 | APOB | c.6793A>C (p.Lys2265Gln) c.5869+658A>C (n.5869+658A>C) | |
2 | g.21010076T>A | CA346000714 | APOB | c.6792A>T (p.Glu2264Asp) c.5869+657A>T (n.5869+657A>T) | |
2 | g.21010076T>C | CA425345400 | APOB | c.6792A>G (p.Glu2264=) c.5869+657A>G (n.5869+657A>G) | |
2 | g.21010076T>G | CA346000715 | APOB | c.6792A>C (p.Glu2264Asp) c.5869+657A>C (n.5869+657A>C) | |
2 | g.21010077T>A | CA346000716 | APOB | c.6791A>T (p.Glu2264Val) c.5869+656A>T (n.5869+656A>T) | |
2 | g.21010077T>C | CA063534 | APOB | c.6791A>G (p.Glu2264Gly) c.5869+656A>G (n.5869+656A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010077T>G | CA346000717 | APOB | c.6791A>C (p.Glu2264Ala) c.5869+656A>C (n.5869+656A>C) | |
2 | g.21010077T= | CA2493476542 | APOB | c.6791A= (p.Glu2264=) c.5869+656A= (n.5869+656A=) | |
2 | g.21010078C>A | CA346000720 | APOB | c.6790G>T (p.Glu2264Ter) c.5869+655G>T (n.5869+655G>T) | gnomAD v4 |
2 | g.21010078C>G | CA346000719 | APOB | c.6790G>C (p.Glu2264Gln) c.5869+655G>C (n.5869+655G>C) | |
2 | g.21010078C>T | CA346000718 | APOB | c.6790G>A (p.Glu2264Lys) c.5869+655G>A (n.5869+655G>A) | COSMIC |
2 | g.21010079T>A | CA346000721 | APOB | c.6789A>T (p.Gln2263His) c.5869+654A>T (n.5869+654A>T) | |
2 | g.21010079T>C | CA425345403 | APOB | c.6789A>G (p.Gln2263=) c.5869+654A>G (n.5869+654A>G) | gnomAD v4 |
2 | g.21010079T>G | CA346000722 | APOB | c.6789A>C (p.Gln2263His) c.5869+654A>C (n.5869+654A>C) | |
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) |