Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010373G>A | CA425345742 | APOB | c.6495C>T (p.Ile2165=) c.5869+360C>T (n.5869+360C>T) | gnomAD v4 |
2 | g.21010373G>C | CA346001635 | APOB | c.6495C>G (p.Ile2165Met) c.5869+360C>G (n.5869+360C>G) | |
2 | g.21010373G>T | CA425345743 | APOB | c.6495C>A (p.Ile2165=) c.5869+360C>A (n.5869+360C>A) | |
2 | g.21010374A= | CA2493476675 | APOB | c.6494T= (p.Ile2165=) c.5869+359T= (n.5869+359T=) | |
2 | g.21010374A>C | CA346001636 | APOB | c.6494T>G (p.Ile2165Ser) c.5869+359T>G (n.5869+359T>G) | |
2 | g.21010374A>G | CA063291 | APOB | c.6494T>C (p.Ile2165Thr) c.5869+359T>C (n.5869+359T>C) | dbSNP ExAC gnomAD v2 |
2 | g.21010374A>T | CA346001637 | APOB | c.6494T>A (p.Ile2165Asn) c.5869+359T>A (n.5869+359T>A) | |
2 | g.21010374_21010375delinsAT | CA2493476676 | APOB | c.6493_6494delinsAT (p.Ile2165=) c.5869+358_5869+359delinsAT (n.5869+358_5869+359delinsAT) | |
2 | g.21010375T>A | CA346001638 | APOB | c.6493A>T (p.Ile2165Phe) c.5869+358A>T (n.5869+358A>T) | |
2 | g.21010375T>C | CA43505277 | APOB | c.6493A>G (p.Ile2165Val) c.5869+358A>G (n.5869+358A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010375T>G | CA346001639 | APOB | c.6493A>C (p.Ile2165Leu) c.5869+358A>C (n.5869+358A>C) | |
2 | g.21010375T= | CA2493476677 | APOB | c.6493A= (p.Ile2165=) c.5869+358A= (n.5869+358A=) | |
2 | g.21010378del | CA2493476678 | APOB | c.6493del (p.Ile2165SerfsTer14) c.5869+358del (n.5869+358del) | dbSNP gnomAD v4 |
2 | g.21010376T>A | CA346001640 | APOB | c.6492A>T (p.Lys2164Asn) c.5869+357A>T (n.5869+357A>T) | gnomAD v4 |
2 | g.21010376T>C | CA425345747 | APOB | c.6492A>G (p.Lys2164=) c.5869+357A>G (n.5869+357A>G) | |
2 | g.21010376T>G | CA346001641 | APOB | c.6492A>C (p.Lys2164Asn) c.5869+357A>C (n.5869+357A>C) | |
2 | g.21010377T>A | CA346001644 | APOB | c.6491A>T (p.Lys2164Ile) c.5869+356A>T (n.5869+356A>T) | |
2 | g.21010377T>C | CA346001643 | APOB | c.6491A>G (p.Lys2164Arg) c.5869+356A>G (n.5869+356A>G) | |
2 | g.21010377T>G | CA346001642 | APOB | c.6491A>C (p.Lys2164Thr) c.5869+356A>C (n.5869+356A>C) | |
2 | g.21010378T>A | CA346001645 | APOB | c.6490A>T (p.Lys2164Ter) c.5869+355A>T (n.5869+355A>T) | |
2 | g.21010378T>C | CA346001646 | APOB | c.6490A>G (p.Lys2164Glu) c.5869+355A>G (n.5869+355A>G) | gnomAD v4 |
2 | g.21010378T>G | CA346001647 | APOB | c.6490A>C (p.Lys2164Gln) c.5869+355A>C (n.5869+355A>C) | |
2 | g.21010379G>A | CA425345749 | APOB | c.6489C>T (p.Ala2163=) c.5869+354C>T (n.5869+354C>T) | |
2 | g.21010379G>C | CA425345751 | APOB | c.6489C>G (p.Ala2163=) c.5869+354C>G (n.5869+354C>G) | |
2 | g.21010379G>T | CA425345752 | APOB | c.6489C>A (p.Ala2163=) c.5869+354C>A (n.5869+354C>A) | gnomAD v4 COSMIC |
2 | g.21010380G>A | CA346001648 | APOB | c.6488C>T (p.Ala2163Val) c.5869+353C>T (n.5869+353C>T) | |
2 | g.21010380G>C | CA346001649 | APOB | c.6488C>G (p.Ala2163Gly) c.5869+353C>G (n.5869+353C>G) | |
2 | g.21010380G>T | CA346001650 | APOB | c.6488C>A (p.Ala2163Asp) c.5869+353C>A (n.5869+353C>A) | |
2 | g.21010381C>A | CA346001651 | APOB | c.6487G>T (p.Ala2163Ser) c.5869+352G>T (n.5869+352G>T) | COSMIC |
2 | g.21010381C= | CA2493476679 | APOB | c.6487G= (p.Ala2163=) c.5869+352G= (n.5869+352G=) | |
2 | g.21010381C>G | CA346001652 | APOB | c.6487G>C (p.Ala2163Pro) c.5869+352G>C (n.5869+352G>C) | |
2 | g.21010381C>T | CA346001653 | APOB | c.6487G>A (p.Ala2163Thr) c.5869+352G>A (n.5869+352G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21010382A= | CA2493476680 | APOB | c.6486T= (p.Asp2162=) c.5869+351T= (n.5869+351T=) | |
2 | g.21010382A>C | CA346001654 | APOB | c.6486T>G (p.Asp2162Glu) c.5869+351T>G (n.5869+351T>G) | |
2 | g.21010382A>G | CA43505280 | APOB | c.6486T>C (p.Asp2162=) c.5869+351T>C (n.5869+351T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.21010382A>T | CA063281 | APOB | c.6486T>A (p.Asp2162Glu) c.5869+351T>A (n.5869+351T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010383T>A | CA346001655 | APOB | c.6485A>T (p.Asp2162Val) c.5869+350A>T (n.5869+350A>T) | |
2 | g.21010383T>C | CA346001657 | APOB | c.6485A>G (p.Asp2162Gly) c.5869+350A>G (n.5869+350A>G) | dbSNP |
2 | g.21010383T>G | CA346001656 | APOB | c.6485A>C (p.Asp2162Ala) c.5869+350A>C (n.5869+350A>C) | |
2 | g.21010383T= | CA2493476681 | APOB | c.6485A= (p.Asp2162=) c.5869+350A= (n.5869+350A=) | |
2 | g.21010384C>A | CA346001658 | APOB | c.6484G>T (p.Asp2162Tyr) c.5869+349G>T (n.5869+349G>T) | dbSNP gnomAD v4 COSMIC |
2 | g.21010384C= | CA2493476682 | APOB | c.6484G= (p.Asp2162=) c.5869+349G= (n.5869+349G=) | |
2 | g.21010384C>G | CA346001659 | APOB | c.6484G>C (p.Asp2162His) c.5869+349G>C (n.5869+349G>C) | |
2 | g.21010384C>T | CA063273 | APOB | c.6484G>A (p.Asp2162Asn) c.5869+349G>A (n.5869+349G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010385A>C | CA346001660 | APOB | c.6483T>G (p.Asp2161Glu) c.5869+348T>G (n.5869+348T>G) | |
2 | g.21010385A>G | CA425345758 | APOB | c.6483T>C (p.Asp2161=) c.5869+348T>C (n.5869+348T>C) | |
2 | g.21010385A>T | CA346001661 | APOB | c.6483T>A (p.Asp2161Glu) c.5869+348T>A (n.5869+348T>A) | |
2 | g.21010385dup | CA531312754 | APOB | c.6483dup (p.Asp2162Ter) c.5869+348dup (n.5869+348dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010386T>A | CA063265 | APOB | c.6482A>T (p.Asp2161Val) c.5869+347A>T (n.5869+347A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010386T>C | CA346001662 | APOB | c.6482A>G (p.Asp2161Gly) c.5869+347A>G (n.5869+347A>G) | |
2 | g.21010386T>G | CA346001663 | APOB | c.6482A>C (p.Asp2161Ala) c.5869+347A>C (n.5869+347A>C) | |
2 | g.21010386T= | CA2493476683 | APOB | c.6482A= (p.Asp2161=) c.5869+347A= (n.5869+347A=) | |
2 | g.21010387C>A | CA346001664 | APOB | c.6481G>T (p.Asp2161Tyr) c.5869+346G>T (n.5869+346G>T) | gnomAD v4 |
2 | g.21010387C>G | CA346001665 | APOB | c.6481G>C (p.Asp2161His) c.5869+346G>C (n.5869+346G>C) | COSMIC |
2 | g.21010387C>T | CA346001666 | APOB | c.6481G>A (p.Asp2161Asn) c.5869+346G>A (n.5869+346G>A) | |
2 | g.21010388T>A | CA346001667 | APOB | c.6480A>T (p.Leu2160Phe) c.5869+345A>T (n.5869+345A>T) | |
2 | g.21010388T>C | CA425345763 | APOB | c.6480A>G (p.Leu2160=) c.5869+345A>G (n.5869+345A>G) | |
2 | g.21010388T>G | CA346001668 | APOB | c.6480A>C (p.Leu2160Phe) c.5869+345A>C (n.5869+345A>C) | |
2 | g.21010389A>C | CA346001669 | APOB | c.6479T>G (p.Leu2160Ter) c.5869+344T>G (n.5869+344T>G) | |
2 | g.21010389A>G | CA346001670 | APOB | c.6479T>C (p.Leu2160Ser) c.5869+344T>C (n.5869+344T>C) | |
2 | g.21010389A>T | CA346001671 | APOB | c.6479T>A (p.Leu2160Ter) c.5869+344T>A (n.5869+344T>A) | |
2 | g.21010390A= | CA2493476684 | APOB | c.6478T= (p.Leu2160=) c.5869+343T= (n.5869+343T=) | |
2 | g.21010390A>C | CA346001672 | APOB | c.6478T>G (p.Leu2160Val) c.5869+343T>G (n.5869+343T>G) | |
2 | g.21010390A>G | CA425345767 | APOB | c.6478T>C (p.Leu2160=) c.5869+343T>C (n.5869+343T>C) | |
2 | g.21010390A>T | CA346001673 | APOB | c.6478T>A (p.Leu2160Ile) c.5869+343T>A (n.5869+343T>A) | dbSNP |
2 | g.21010391T>A | CA425345771 | APOB | c.6477A>T (p.Ala2159=) c.5869+342A>T (n.5869+342A>T) | |
2 | g.21010391T>C | CA425345772 | APOB | c.6477A>G (p.Ala2159=) c.5869+342A>G (n.5869+342A>G) | |
2 | g.21010391T>G | CA425345774 | APOB | c.6477A>C (p.Ala2159=) c.5869+342A>C (n.5869+342A>C) | dbSNP |
2 | g.21010391T= | CA2493476685 | APOB | c.6477A= (p.Ala2159=) c.5869+342A= (n.5869+342A=) | |
2 | g.21010392G>A | CA43505306 | APOB | c.6476C>T (p.Ala2159Val) c.5869+341C>T (n.5869+341C>T) | dbSNP gnomAD v4 |
2 | g.21010392G>C | CA346001675 | APOB | c.6476C>G (p.Ala2159Gly) c.5869+341C>G (n.5869+341C>G) | gnomAD v4 |
2 | g.21010392G= | CA2493476686 | APOB | c.6476C= (p.Ala2159=) c.5869+341C= (n.5869+341C=) | |
2 | g.21010392G>T | CA346001674 | APOB | c.6476C>A (p.Ala2159Glu) c.5869+341C>A (n.5869+341C>A) | dbSNP |
2 | g.21010393C>A | CA063251 | APOB | c.6475G>T (p.Ala2159Ser) c.5869+340G>T (n.5869+340G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010393C= | CA2493476687 | APOB | c.6475G= (p.Ala2159=) c.5869+340G= (n.5869+340G=) | |
2 | g.21010393C>G | CA346001676 | APOB | c.6475G>C (p.Ala2159Pro) c.5869+340G>C (n.5869+340G>C) | |
2 | g.21010393C>T | CA346001677 | APOB | c.6475G>A (p.Ala2159Thr) c.5869+340G>A (n.5869+340G>A) | COSMIC |
2 | g.21010394A>C | CA346001678 | APOB | c.6474T>G (p.Ile2158Met) c.5869+339T>G (n.5869+339T>G) | |
2 | g.21010394A>G | CA425345777 | APOB | c.6474T>C (p.Ile2158=) c.5869+339T>C (n.5869+339T>C) | |
2 | g.21010394A>T | CA425345778 | APOB | c.6474T>A (p.Ile2158=) c.5869+339T>A (n.5869+339T>A) | |
2 | g.21010395A>C | CA346001679 | APOB | c.6473T>G (p.Ile2158Ser) c.5869+338T>G (n.5869+338T>G) | |
2 | g.21010395A>G | CA346001680 | APOB | c.6473T>C (p.Ile2158Thr) c.5869+338T>C (n.5869+338T>C) | |
2 | g.21010395A>T | CA346001681 | APOB | c.6473T>A (p.Ile2158Asn) c.5869+338T>A (n.5869+338T>A) | |
2 | g.21010396T>A | CA346001682 | APOB | c.6472A>T (p.Ile2158Phe) c.5869+337A>T (n.5869+337A>T) | COSMIC |
2 | g.21010396T>C | CA346001683 | APOB | c.6472A>G (p.Ile2158Val) c.5869+337A>G (n.5869+337A>G) | |
2 | g.21010396T>G | CA43505307 | APOB | c.6472A>C (p.Ile2158Leu) c.5869+337A>C (n.5869+337A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010396T= | CA2493476688 | APOB | c.6472A= (p.Ile2158=) c.5869+337A= (n.5869+337A=) | |
2 | g.21010397T>A | CA063245 | APOB | c.6471A>T (p.Gln2157His) c.5869+336A>T (n.5869+336A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010397T>C | CA425345783 | APOB | c.6471A>G (p.Gln2157=) c.5869+336A>G (n.5869+336A>G) | |
2 | g.21010397T>G | CA346001684 | APOB | c.6471A>C (p.Gln2157His) c.5869+336A>C (n.5869+336A>C) | |
2 | g.21010397T= | CA2493476689 | APOB | c.6471A= (p.Gln2157=) c.5869+336A= (n.5869+336A=) | |
2 | g.21010398T>A | CA346001685 | APOB | c.6470A>T (p.Gln2157Leu) c.5869+335A>T (n.5869+335A>T) | |
2 | g.21010398T>C | CA346001686 | APOB | c.6470A>G (p.Gln2157Arg) c.5869+335A>G (n.5869+335A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010398T>G | CA346001687 | APOB | c.6470A>C (p.Gln2157Pro) c.5869+335A>C (n.5869+335A>C) | |
2 | g.21010398T= | CA2493476690 | APOB | c.6470A= (p.Gln2157=) c.5869+335A= (n.5869+335A=) | |
2 | g.21010399G>A | CA063240 | APOB | c.6469C>T (p.Gln2157Ter) c.5869+334C>T (n.5869+334C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010399G>C | CA346001688 | APOB | c.6469C>G (p.Gln2157Glu) c.5869+334C>G (n.5869+334C>G) | |
2 | g.21010399G= | CA2493476691 | APOB | c.6469C= (p.Gln2157=) c.5869+334C= (n.5869+334C=) | |
2 | g.21010399G>T | CA346001689 | APOB | c.6469C>A (p.Gln2157Lys) c.5869+334C>A (n.5869+334C>A) | dbSNP |
2 | g.21010400T>A | CA425345787 | APOB | c.6468A>T (p.Ile2156=) c.5869+333A>T (n.5869+333A>T) | |
2 | g.21010400T>C | CA063235 | APOB | c.6468A>G (p.Ile2156Met) c.5869+333A>G (n.5869+333A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010400T>G | CA425345786 | APOB | c.6468A>C (p.Ile2156=) c.5869+333A>C (n.5869+333A>C) | |
2 | g.21010400T= | CA2493476692 | APOB | c.6468A= (p.Ile2156=) c.5869+333A= (n.5869+333A=) | |
2 | g.21010401A= | CA2493476693 | APOB | c.6467T= (p.Ile2156=) c.5869+332T= (n.5869+332T=) | |
2 | g.21010401A>C | CA346001690 | APOB | c.6467T>G (p.Ile2156Arg) c.5869+332T>G (n.5869+332T>G) | |
2 | g.21010401A>G | CA346001691 | APOB | c.6467T>C (p.Ile2156Thr) c.5869+332T>C (n.5869+332T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010401A>T | CA346001692 | APOB | c.6467T>A (p.Ile2156Lys) c.5869+332T>A (n.5869+332T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010402T>A | CA346001693 | APOB | c.6466A>T (p.Ile2156Leu) c.5869+331A>T (n.5869+331A>T) | |
2 | g.21010402T>C | CA346001694 | APOB | c.6466A>G (p.Ile2156Val) c.5869+331A>G (n.5869+331A>G) | |
2 | g.21010402T>G | CA346001695 | APOB | c.6466A>C (p.Ile2156Leu) c.5869+331A>C (n.5869+331A>C) | |
2 | g.21010403A= | CA2493476694 | APOB | c.6465T= (p.Asp2155=) c.5869+330T= (n.5869+330T=) | |
2 | g.21010403A>C | CA063219 | APOB | c.6465T>G (p.Asp2155Glu) c.5869+330T>G (n.5869+330T>G) | dbSNP ExAC gnomAD v2 |
2 | g.21010403A>G | CA063213 | APOB | c.6465T>C (p.Asp2155=) c.5869+330T>C (n.5869+330T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010403A>T | CA346001696 | APOB | c.6465T>A (p.Asp2155Glu) c.5869+330T>A (n.5869+330T>A) | |
2 | g.21010404T>A | CA346001697 | APOB | c.6464A>T (p.Asp2155Val) c.5869+329A>T (n.5869+329A>T) | |
2 | g.21010404T>C | CA346001698 | APOB | c.6464A>G (p.Asp2155Gly) c.5869+329A>G (n.5869+329A>G) | |
2 | g.21010404T>G | CA346001699 | APOB | c.6464A>C (p.Asp2155Ala) c.5869+329A>C (n.5869+329A>C) | |
2 | g.21010405C>A | CA346001700 | APOB | c.6463G>T (p.Asp2155Tyr) c.5869+328G>T (n.5869+328G>T) | gnomAD v4 |
2 | g.21010405C= | CA2493476695 | APOB | c.6463G= (p.Asp2155=) c.5869+328G= (n.5869+328G=) | |
2 | g.21010405C>G | CA346001701 | APOB | c.6463G>C (p.Asp2155His) c.5869+328G>C (n.5869+328G>C) | |
2 | g.21010405C>T | CA43505346 | APOB | c.6463G>A (p.Asp2155Asn) c.5869+328G>A (n.5869+328G>A) | dbSNP COSMIC |
2 | g.21010406A>C | CA346001702 | APOB | c.6462T>G (p.Asn2154Lys) c.5869+327T>G (n.5869+327T>G) | |
2 | g.21010406A>G | CA425345801 | APOB | c.6462T>C (p.Asn2154=) c.5869+327T>C (n.5869+327T>C) | |
2 | g.21010406A>T | CA346001703 | APOB | c.6462T>A (p.Asn2154Lys) c.5869+327T>A (n.5869+327T>A) | |
2 | g.21010407T>A | CA346001704 | APOB | c.6461A>T (p.Asn2154Ile) c.5869+326A>T (n.5869+326A>T) | |
2 | g.21010407T>C | CA346001705 | APOB | c.6461A>G (p.Asn2154Ser) c.5869+326A>G (n.5869+326A>G) | |
2 | g.21010407T>G | CA346001706 | APOB | c.6461A>C (p.Asn2154Thr) c.5869+326A>C (n.5869+326A>C) | |
2 | g.21010408T>A | CA346001708 | APOB | c.6460A>T (p.Asn2154Tyr) c.5869+325A>T (n.5869+325A>T) | |
2 | g.21010408T>C | CA346001709 | APOB | c.6460A>G (p.Asn2154Asp) c.5869+325A>G (n.5869+325A>G) | |
2 | g.21010408T>G | CA346001707 | APOB | c.6460A>C (p.Asn2154His) c.5869+325A>C (n.5869+325A>C) | |
2 | g.21010409T>A | CA346001710 | APOB | c.6459A>T (p.Glu2153Asp) c.5869+324A>T (n.5869+324A>T) | |
2 | g.21010409T>C | CA425345809 | APOB | c.6459A>G (p.Glu2153=) c.5869+324A>G (n.5869+324A>G) | |
2 | g.21010409T>G | CA063209 | APOB | c.6459A>C (p.Glu2153Asp) c.5869+324A>C (n.5869+324A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010409T= | CA2493476696 | APOB | c.6459A= (p.Glu2153=) c.5869+324A= (n.5869+324A=) | |
2 | g.21010410T>A | CA346001711 | APOB | c.6458A>T (p.Glu2153Val) c.5869+323A>T (n.5869+323A>T) | |
2 | g.21010410T>C | CA346001712 | APOB | c.6458A>G (p.Glu2153Gly) c.5869+323A>G (n.5869+323A>G) | |
2 | g.21010410T>G | CA346001713 | APOB | c.6458A>C (p.Glu2153Ala) c.5869+323A>C (n.5869+323A>C) | |
2 | g.21010411C>A | CA346001714 | APOB | c.6457G>T (p.Glu2153Ter) c.5869+322G>T (n.5869+322G>T) | |
2 | g.21010411C= | CA2493476697 | APOB | c.6457G= (p.Glu2153=) c.5869+322G= (n.5869+322G=) | |
2 | g.21010411C>G | CA346001715 | APOB | c.6457G>C (p.Glu2153Gln) c.5869+322G>C (n.5869+322G>C) | |
2 | g.21010411C>T | CA063203 | APOB | c.6457G>A (p.Glu2153Lys) c.5869+322G>A (n.5869+322G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010412T>A | CA425345813 | APOB | c.6456A>T (p.Thr2152=) c.5869+321A>T (n.5869+321A>T) | |
2 | g.21010412T>C | CA425345814 | APOB | c.6456A>G (p.Thr2152=) c.5869+321A>G (n.5869+321A>G) | |
2 | g.21010412T>G | CA425345816 | APOB | c.6456A>C (p.Thr2152=) c.5869+321A>C (n.5869+321A>C) | |
2 | g.21010413G>A | CA063199 | APOB | c.6455C>T (p.Thr2152Ile) c.5869+320C>T (n.5869+320C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010413G>C | CA346001716 | APOB | c.6455C>G (p.Thr2152Arg) c.5869+320C>G (n.5869+320C>G) | |
2 | g.21010413G= | CA2493476698 | APOB | c.6455C= (p.Thr2152=) c.5869+320C= (n.5869+320C=) | |
2 | g.21010413G>T | CA346001717 | APOB | c.6455C>A (p.Thr2152Lys) c.5869+320C>A (n.5869+320C>A) | |
2 | g.21010414T>A | CA346001718 | APOB | c.6454A>T (p.Thr2152Ser) c.5869+319A>T (n.5869+319A>T) | |
2 | g.21010414T>C | CA346001719 | APOB | c.6454A>G (p.Thr2152Ala) c.5869+319A>G (n.5869+319A>G) | |
2 | g.21010414T>G | CA346001720 | APOB | c.6454A>C (p.Thr2152Pro) c.5869+319A>C (n.5869+319A>C) | |
2 | g.21010415A>C | CA346001721 | APOB | c.6453T>G (p.Ile2151Met) c.5869+318T>G (n.5869+318T>G) | |
2 | g.21010415A>G | CA425345819 | APOB | c.6453T>C (p.Ile2151=) c.5869+318T>C (n.5869+318T>C) | |
2 | g.21010415A>T | CA425345821 | APOB | c.6453T>A (p.Ile2151=) c.5869+318T>A (n.5869+318T>A) | |
2 | g.21010416A>C | CA346001722 | APOB | c.6452T>G (p.Ile2151Ser) c.5869+317T>G (n.5869+317T>G) | |
2 | g.21010416A>G | CA346001723 | APOB | c.6452T>C (p.Ile2151Thr) c.5869+317T>C (n.5869+317T>C) | |
2 | g.21010416A>T | CA346001724 | APOB | c.6452T>A (p.Ile2151Asn) c.5869+317T>A (n.5869+317T>A) | |
2 | g.21010417T>A | CA346001725 | APOB | c.6451A>T (p.Ile2151Phe) c.5869+316A>T (n.5869+316A>T) | |
2 | g.21010417T>C | CA346001726 | APOB | c.6451A>G (p.Ile2151Val) c.5869+316A>G (n.5869+316A>G) | gnomAD v4 |
2 | g.21010417T>G | CA346001727 | APOB | c.6451A>C (p.Ile2151Leu) c.5869+316A>C (n.5869+316A>C) | |
2 | g.21010418T>A | CA346001728 | APOB | c.6450A>T (p.Arg2150Ser) c.5869+315A>T (n.5869+315A>T) | |
2 | g.21010418T>C | CA425345826 | APOB | c.6450A>G (p.Arg2150=) c.5869+315A>G (n.5869+315A>G) | gnomAD v4 |
2 | g.21010418T>G | CA346001729 | APOB | c.6450A>C (p.Arg2150Ser) c.5869+315A>C (n.5869+315A>C) | |
2 | g.21010419C>A | CA346001730 | APOB | c.6449G>T (p.Arg2150Ile) c.5869+314G>T (n.5869+314G>T) | gnomAD v4 |
2 | g.21010419C>G | CA346001731 | APOB | c.6449G>C (p.Arg2150Thr) c.5869+314G>C (n.5869+314G>C) | |
2 | g.21010419C>T | CA346001732 | APOB | c.6449G>A (p.Arg2150Lys) c.5869+314G>A (n.5869+314G>A) | |
2 | g.21010420T>A | CA346001733 | APOB | c.6448A>T (p.Arg2150Ter) c.5869+313A>T (n.5869+313A>T) | |
2 | g.21010420T>C | CA346001734 | APOB | c.6448A>G (p.Arg2150Gly) c.5869+313A>G (n.5869+313A>G) | |
2 | g.21010420T>G | CA425345829 | APOB | c.6448A>C (p.Arg2150=) c.5869+313A>C (n.5869+313A>C) | |
2 | g.21010421A= | CA2493476699 | APOB | c.6447T= (p.Tyr2149=) c.5869+312T= (n.5869+312T=) | |
2 | g.21010421A>C | CA346001736 | APOB | c.6447T>G (p.Tyr2149Ter) c.5869+312T>G (n.5869+312T>G) | |
2 | g.21010421A>G | CA063193 | APOB | c.6447T>C (p.Tyr2149=) c.5869+312T>C (n.5869+312T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010421A>T | CA346001735 | APOB | c.6447T>A (p.Tyr2149Ter) c.5869+312T>A (n.5869+312T>A) | dbSNP gnomAD v4 |
2 | g.21010422T>A | CA346001737 | APOB | c.6446A>T (p.Tyr2149Phe) c.5869+311A>T (n.5869+311A>T) | |
2 | g.21010422T>C | CA346001738 | APOB | c.6446A>G (p.Tyr2149Cys) c.5869+311A>G (n.5869+311A>G) | |
2 | g.21010422T>G | CA346001739 | APOB | c.6446A>C (p.Tyr2149Ser) c.5869+311A>C (n.5869+311A>C) | |
2 | g.21010423A= | CA2493476700 | APOB | c.6445T= (p.Tyr2149=) c.5869+310T= (n.5869+310T=) | |
2 | g.21010423A>C | CA346001740 | APOB | c.6445T>G (p.Tyr2149Asp) c.5869+310T>G (n.5869+310T>G) | |
2 | g.21010423A>G | CA346001741 | APOB | c.6445T>C (p.Tyr2149His) c.5869+310T>C (n.5869+310T>C) | |
2 | g.21010423A>T | CA063187 | APOB | c.6445T>A (p.Tyr2149Asn) c.5869+310T>A (n.5869+310T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010424C>A | CA346001742 | APOB | c.6444G>T (p.Lys2148Asn) c.5869+309G>T (n.5869+309G>T) | |
2 | g.21010424C>G | CA346001743 | APOB | c.6444G>C (p.Lys2148Asn) c.5869+309G>C (n.5869+309G>C) | |
2 | g.21010424C>T | CA425345837 | APOB | c.6444G>A (p.Lys2148=) c.5869+309G>A (n.5869+309G>A) | |
2 | g.21010424_21010425delinsCT | CA2493476701 | APOB | c.6443_6444delinsAG (p.Lys2148=) c.5869+308_5869+309delinsAG (n.5869+308_5869+309delinsAG) | |
2 | g.21010425T>A | CA43505378 | APOB | c.6443A>T (p.Lys2148Met) c.5869+308A>T (n.5869+308A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21010425T>C | CA346001744 | APOB | c.6443A>G (p.Lys2148Arg) c.5869+308A>G (n.5869+308A>G) | gnomAD v4 |
2 | g.21010425T>G | CA346001745 | APOB | c.6443A>C (p.Lys2148Thr) c.5869+308A>C (n.5869+308A>C) | |
2 | g.21010425T= | CA2493476703 | APOB | c.6443A= (p.Lys2148=) c.5869+308A= (n.5869+308A=) | |
2 | g.21010430dup | CA645539128 | APOB | c.6443dup (p.Tyr2149ValfsTer2) c.5869+308dup (n.5869+308dup) | gnomAD v4 COSMIC |
2 | g.21010430del | CA2493476702 | APOB | c.6443del (p.Lys2148SerfsTer13) c.5869+308del (n.5869+308del) | dbSNP gnomAD v4 |
2 | g.21010425_21010426insA | CA425345842 | APOB | c.6442_6443insT (p.Lys2148IlefsTer3) c.5869+307_5869+308insT (n.5869+307_5869+308insT) | |
2 | g.21010426T>A | CA346001746 | APOB | c.6442A>T (p.Lys2148Ter) c.5869+307A>T (n.5869+307A>T) | |
2 | g.21010426T>C | CA346001747 | APOB | c.6442A>G (p.Lys2148Glu) c.5869+307A>G (n.5869+307A>G) | |
2 | g.21010426T>G | CA346001748 | APOB | c.6442A>C (p.Lys2148Gln) c.5869+307A>C (n.5869+307A>C) | gnomAD v4 |
2 | g.21010427T>A | CA346001749 | APOB | c.6441A>T (p.Lys2147Asn) c.5869+306A>T (n.5869+306A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010427T>C | CA425345843 | APOB | c.6441A>G (p.Lys2147=) c.5869+306A>G (n.5869+306A>G) | |
2 | g.21010427T>G | CA346001750 | APOB | c.6441A>C (p.Lys2147Asn) c.5869+306A>C (n.5869+306A>C) | |
2 | g.21010427T= | CA2493476704 | APOB | c.6441A= (p.Lys2147=) c.5869+306A= (n.5869+306A=) | |
2 | g.21010428T>A | CA346001751 | APOB | c.6440A>T (p.Lys2147Ile) c.5869+305A>T (n.5869+305A>T) | |
2 | g.21010428T>C | CA346001752 | APOB | c.6440A>G (p.Lys2147Arg) c.5869+305A>G (n.5869+305A>G) | |
2 | g.21010428T>G | CA346001753 | APOB | c.6440A>C (p.Lys2147Thr) c.5869+305A>C (n.5869+305A>C) | |
2 | g.21010429T>A | CA346001754 | APOB | c.6439A>T (p.Lys2147Ter) c.5869+304A>T (n.5869+304A>T) | |
2 | g.21010429T>C | CA346001755 | APOB | c.6439A>G (p.Lys2147Glu) c.5869+304A>G (n.5869+304A>G) | |
2 | g.21010429T>G | CA346001756 | APOB | c.6439A>C (p.Lys2147Gln) c.5869+304A>C (n.5869+304A>C) | |
2 | g.21010430T>A | CA425345846 | APOB | c.6438A>T (p.Thr2146=) c.5869+303A>T (n.5869+303A>T) | |
2 | g.21010430T>C | CA425345847 | APOB | c.6438A>G (p.Thr2146=) c.5869+303A>G (n.5869+303A>G) | |
2 | g.21010430T>G | CA425345848 | APOB | c.6438A>C (p.Thr2146=) c.5869+303A>C (n.5869+303A>C) | |
2 | g.21010431G>A | CA346001757 | APOB | c.6437C>T (p.Thr2146Ile) c.5869+302C>T (n.5869+302C>T) | |
2 | g.21010431G>C | CA346001758 | APOB | c.6437C>G (p.Thr2146Arg) c.5869+302C>G (n.5869+302C>G) | |
2 | g.21010431G>T | CA346001759 | APOB | c.6437C>A (p.Thr2146Lys) c.5869+302C>A (n.5869+302C>A) | gnomAD v4 |
2 | g.21010432_21010455del | CA2547988098 | APOB | c.6414_6437del (p.Lys2139_Thr2146del) c.5869+279_5869+302del (n.5869+279_5869+302del) | |
2 | g.21010432T>A | CA346001760 | APOB | c.6436A>T (p.Thr2146Ser) c.5869+301A>T (n.5869+301A>T) | |
2 | g.21010432T>C | CA346001761 | APOB | c.6436A>G (p.Thr2146Ala) c.5869+301A>G (n.5869+301A>G) | gnomAD v4 |
2 | g.21010432T>G | CA346001762 | APOB | c.6436A>C (p.Thr2146Pro) c.5869+301A>C (n.5869+301A>C) | |
2 | g.21010433G>A | CA43505383 | APOB | c.6435C>T (p.Leu2145=) c.5869+300C>T (n.5869+300C>T) | dbSNP |
2 | g.21010433G>C | CA425345854 | APOB | c.6435C>G (p.Leu2145=) c.5869+300C>G (n.5869+300C>G) | ClinVar dbSNP |
2 | g.21010433G= | CA2493476705 | APOB | c.6435C= (p.Leu2145=) c.5869+300C= (n.5869+300C=) | |
2 | g.21010433G>T | CA425345856 | APOB | c.6435C>A (p.Leu2145=) c.5869+300C>A (n.5869+300C>A) | gnomAD v4 COSMIC |
2 | g.21010433_21010440del | CA2658056050 | APOB | c.6428_6435del (p.Thr2143AsnfsTer5) c.5869+293_5869+300del (n.5869+293_5869+300del) | gnomAD v4 |
2 | g.21010434A>C | CA346001763 | APOB | c.6434T>G (p.Leu2145Arg) c.5869+299T>G (n.5869+299T>G) | |
2 | g.21010434A>G | CA346001765 | APOB | c.6434T>C (p.Leu2145Pro) c.5869+299T>C (n.5869+299T>C) | |
2 | g.21010434A>T | CA346001764 | APOB | c.6434T>A (p.Leu2145His) c.5869+299T>A (n.5869+299T>A) | |
2 | g.21010435G>A | CA346001766 | APOB | c.6433C>T (p.Leu2145Phe) c.5869+298C>T (n.5869+298C>T) | gnomAD v4 |
2 | g.21010435G>C | CA346001768 | APOB | c.6433C>G (p.Leu2145Val) c.5869+298C>G (n.5869+298C>G) | |
2 | g.21010435G>T | CA346001767 | APOB | c.6433C>A (p.Leu2145Ile) c.5869+298C>A (n.5869+298C>A) | |
2 | g.21010436A>C | CA425345911 | APOB | c.6432T>G (p.Ala2144=) c.5869+297T>G (n.5869+297T>G) | |
2 | g.21010436A>G | CA425345912 | APOB | c.6432T>C (p.Ala2144=) c.5869+297T>C (n.5869+297T>C) | |
2 | g.21010436A>T | CA425345913 | APOB | c.6432T>A (p.Ala2144=) c.5869+297T>A (n.5869+297T>A) | |
2 | g.21010437G>A | CA346001769 | APOB | c.6431C>T (p.Ala2144Val) c.5869+296C>T (n.5869+296C>T) | gnomAD v4 |
2 | g.21010437G>C | CA346001771 | APOB | c.6431C>G (p.Ala2144Gly) c.5869+296C>G (n.5869+296C>G) | |
2 | g.21010437G>T | CA346001770 | APOB | c.6431C>A (p.Ala2144Asp) c.5869+296C>A (n.5869+296C>A) | |
2 | g.21010438C>A | CA346001772 | APOB | c.6430G>T (p.Ala2144Ser) c.5869+295G>T (n.5869+295G>T) | gnomAD v4 COSMIC |
2 | g.21010438C= | CA2493476706 | APOB | c.6430G= (p.Ala2144=) c.5869+295G= (n.5869+295G=) | |
2 | g.21010438C>G | CA346001774 | APOB | c.6430G>C (p.Ala2144Pro) c.5869+295G>C (n.5869+295G>C) | |
2 | g.21010438C>T | CA346001773 | APOB | c.6430G>A (p.Ala2144Thr) c.5869+295G>A (n.5869+295G>A) | dbSNP |
2 | g.21010442_21010445del | CA2658056051 | APOB | c.6427_6430del (p.Thr2143LeufsTer17) c.5869+292_5869+295del (n.5869+292_5869+295del) | gnomAD v4 |
2 | g.21010439A>C | CA425345921 | APOB | c.6429T>G (p.Thr2143=) c.5869+294T>G (n.5869+294T>G) | |
2 | g.21010439A>G | CA425345917 | APOB | c.6429T>C (p.Thr2143=) c.5869+294T>C (n.5869+294T>C) | |
2 | g.21010439A>T | CA425345918 | APOB | c.6429T>A (p.Thr2143=) c.5869+294T>A (n.5869+294T>A) | |
2 | g.21010440G>A | CA346001775 | APOB | c.6428C>T (p.Thr2143Ile) c.5869+293C>T (n.5869+293C>T) | |
2 | g.21010440G>C | CA346001776 | APOB | c.6428C>G (p.Thr2143Ser) c.5869+293C>G (n.5869+293C>G) | |
2 | g.21010440G>T | CA346001777 | APOB | c.6428C>A (p.Thr2143Asn) c.5869+293C>A (n.5869+293C>A) | |
2 | g.21010443_21010470del | CA2658056052 | APOB | c.6401_6428del (p.Gln2134LeufsTer18) c.5869+266_5869+293del (n.5869+266_5869+293del) | gnomAD v4 |
2 | g.21010441T>A | CA346001778 | APOB | c.6427A>T (p.Thr2143Ser) c.5869+292A>T (n.5869+292A>T) | |
2 | g.21010441T>C | CA346001779 | APOB | c.6427A>G (p.Thr2143Ala) c.5869+292A>G (n.5869+292A>G) | |
2 | g.21010441T>G | CA346001780 | APOB | c.6427A>C (p.Thr2143Pro) c.5869+292A>C (n.5869+292A>C) | ClinVar gnomAD v4 |
2 | g.21010442C>A | CA425345926 | APOB | c.6426G>T (p.Leu2142=) c.5869+291G>T (n.5869+291G>T) | gnomAD v4 |
2 | g.21010442C= | CA2493476707 | APOB | c.6426G= (p.Leu2142=) c.5869+291G= (n.5869+291G=) | |
2 | g.21010442C>G | CA425345924 | APOB | c.6426G>C (p.Leu2142=) c.5869+291G>C (n.5869+291G>C) | |
2 | g.21010442C>T | CA43505391 | APOB | c.6426G>A (p.Leu2142=) c.5869+291G>A (n.5869+291G>A) | dbSNP |
2 | g.21010443A>C | CA346001781 | APOB | c.6425T>G (p.Leu2142Arg) c.5869+290T>G (n.5869+290T>G) | |
2 | g.21010443A>G | CA346001782 | APOB | c.6425T>C (p.Leu2142Pro) c.5869+290T>C (n.5869+290T>C) | |
2 | g.21010443A>T | CA346001783 | APOB | c.6425T>A (p.Leu2142Gln) c.5869+290T>A (n.5869+290T>A) | |
2 | g.21010444G>A | CA425345932 | APOB | c.6424C>T (p.Leu2142=) c.5869+289C>T (n.5869+289C>T) | |
2 | g.21010444G>C | CA346001784 | APOB | c.6424C>G (p.Leu2142Val) c.5869+289C>G (n.5869+289C>G) | |
2 | g.21010444G>T | CA346001785 | APOB | c.6424C>A (p.Leu2142Met) c.5869+289C>A (n.5869+289C>A) | |
2 | g.21010445T>A | CA346001787 | APOB | c.6423A>T (p.Lys2141Asn) c.5869+288A>T (n.5869+288A>T) | |
2 | g.21010445T>C | CA425345938 | APOB | c.6423A>G (p.Lys2141=) c.5869+288A>G (n.5869+288A>G) | ClinVar |
2 | g.21010445T>G | CA346001786 | APOB | c.6423A>C (p.Lys2141Asn) c.5869+288A>C (n.5869+288A>C) | |
2 | g.21010446T>A | CA346001788 | APOB | c.6422A>T (p.Lys2141Ile) c.5869+287A>T (n.5869+287A>T) | |
2 | g.21010446T>C | CA346001789 | APOB | c.6422A>G (p.Lys2141Arg) c.5869+287A>G (n.5869+287A>G) | |
2 | g.21010446T>G | CA346001790 | APOB | c.6422A>C (p.Lys2141Thr) c.5869+287A>C (n.5869+287A>C) | |
2 | g.21010447T>A | CA346001791 | APOB | c.6421A>T (p.Lys2141Ter) c.5869+286A>T (n.5869+286A>T) | |
2 | g.21010447T>C | CA346001792 | APOB | c.6421A>G (p.Lys2141Glu) c.5869+286A>G (n.5869+286A>G) | |
2 | g.21010447T>G | CA346001793 | APOB | c.6421A>C (p.Lys2141Gln) c.5869+286A>C (n.5869+286A>C) | |
2 | g.21010448C>A | CA346001794 | APOB | c.6420G>T (p.Glu2140Asp) c.5869+285G>T (n.5869+285G>T) | |
2 | g.21010448C>G | CA346001795 | APOB | c.6420G>C (p.Glu2140Asp) c.5869+285G>C (n.5869+285G>C) | |
2 | g.21010448C>T | CA425345946 | APOB | c.6420G>A (p.Glu2140=) c.5869+285G>A (n.5869+285G>A) | gnomAD v4 |
2 | g.21010449T>A | CA346001796 | APOB | c.6419A>T (p.Glu2140Val) c.5869+284A>T (n.5869+284A>T) | |
2 | g.21010449T>C | CA346001797 | APOB | c.6419A>G (p.Glu2140Gly) c.5869+284A>G (n.5869+284A>G) | |
2 | g.21010449T>G | CA346001798 | APOB | c.6419A>C (p.Glu2140Ala) c.5869+284A>C (n.5869+284A>C) | |
2 | g.21010450C>A | CA346001800 | APOB | c.6418G>T (p.Glu2140Ter) c.5869+283G>T (n.5869+283G>T) | |
2 | g.21010450C= | CA2493476708 | APOB | c.6418G= (p.Glu2140=) c.5869+283G= (n.5869+283G=) | |
2 | g.21010450C>G | CA346001799 | APOB | c.6418G>C (p.Glu2140Gln) c.5869+283G>C (n.5869+283G>C) | |
2 | g.21010450C>T | CA43505396 | APOB | c.6418G>A (p.Glu2140Lys) c.5869+283G>A (n.5869+283G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010450_21010451delinsTT | CA645539129 | APOB | c.6417_6418delinsAA (p.Glu2140Lys) c.5869+282_5869+283delinsAA (n.5869+282_5869+283delinsAA) | COSMIC |
2 | g.21010451C>A | CA346001801 | APOB | c.6417G>T (p.Lys2139Asn) c.5869+282G>T (n.5869+282G>T) | |
2 | g.21010451C= | CA2493476709 | APOB | c.6417G= (p.Lys2139=) c.5869+282G= (n.5869+282G=) | |
2 | g.21010451C>G | CA346001802 | APOB | c.6417G>C (p.Lys2139Asn) c.5869+282G>C (n.5869+282G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.21010451C>T | CA425345958 | APOB | c.6417G>A (p.Lys2139=) c.5869+282G>A (n.5869+282G>A) | dbSNP |
2 | g.21010452T>A | CA346001803 | APOB | c.6416A>T (p.Lys2139Met) c.5869+281A>T (n.5869+281A>T) | |
2 | g.21010452T>C | CA346001804 | APOB | c.6416A>G (p.Lys2139Arg) c.5869+281A>G (n.5869+281A>G) | gnomAD v4 |
2 | g.21010452T>G | CA346001805 | APOB | c.6416A>C (p.Lys2139Thr) c.5869+281A>C (n.5869+281A>C) | |
2 | g.21010453T>A | CA346001806 | APOB | c.6415A>T (p.Lys2139Ter) c.5869+280A>T (n.5869+280A>T) | |
2 | g.21010453T>C | CA346001807 | APOB | c.6415A>G (p.Lys2139Glu) c.5869+280A>G (n.5869+280A>G) | gnomAD v4 |
2 | g.21010453T>G | CA346001808 | APOB | c.6415A>C (p.Lys2139Gln) c.5869+280A>C (n.5869+280A>C) | |
2 | g.21010454G>A | CA425345963 | APOB | c.6414C>T (p.Ala2138=) c.5869+279C>T (n.5869+279C>T) | |
2 | g.21010454G>C | CA425345964 | APOB | c.6414C>G (p.Ala2138=) c.5869+279C>G (n.5869+279C>G) | |
2 | g.21010454G>T | CA425345965 | APOB | c.6414C>A (p.Ala2138=) c.5869+279C>A (n.5869+279C>A) | |
2 | g.21010455G>A | CA346001809 | APOB | c.6413C>T (p.Ala2138Val) c.5869+278C>T (n.5869+278C>T) | |
2 | g.21010455G>C | CA346001810 | APOB | c.6413C>G (p.Ala2138Gly) c.5869+278C>G (n.5869+278C>G) | |
2 | g.21010455G>T | CA346001811 | APOB | c.6413C>A (p.Ala2138Asp) c.5869+278C>A (n.5869+278C>A) | |
2 | g.21010456C>A | CA346001813 | APOB | c.6412G>T (p.Ala2138Ser) c.5869+277G>T (n.5869+277G>T) | gnomAD v4 |
2 | g.21010456C= | CA2493476710 | APOB | c.6412G= (p.Ala2138=) c.5869+277G= (n.5869+277G=) | |
2 | g.21010456C>G | CA346001812 | APOB | c.6412G>C (p.Ala2138Pro) c.5869+277G>C (n.5869+277G>C) | |
2 | g.21010456C>T | CA063176 | APOB | c.6412G>A (p.Ala2138Thr) c.5869+277G>A (n.5869+277G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010457A= | CA2493476711 | APOB | c.6411T= (p.His2137=) c.5869+276T= (n.5869+276T=) | |
2 | g.21010457A>C | CA346001814 | APOB | c.6411T>G (p.His2137Gln) c.5869+276T>G (n.5869+276T>G) | |
2 | g.21010457A>G | CA063167 | APOB | c.6411T>C (p.His2137=) c.5869+276T>C (n.5869+276T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010457A>T | CA346001815 | APOB | c.6411T>A (p.His2137Gln) c.5869+276T>A (n.5869+276T>A) | dbSNP |
2 | g.21010458T>A | CA346001816 | APOB | c.6410A>T (p.His2137Leu) c.5869+275A>T (n.5869+275A>T) | |
2 | g.21010458T>C | CA43505421 | APOB | c.6410A>G (p.His2137Arg) c.5869+275A>G (n.5869+275A>G) | dbSNP |
2 | g.21010458T>G | CA346001817 | APOB | c.6410A>C (p.His2137Pro) c.5869+275A>C (n.5869+275A>C) | |
2 | g.21010458T= | CA2493476712 | APOB | c.6410A= (p.His2137=) c.5869+275A= (n.5869+275A=) | |
2 | g.21010458_21010461del | CA2566332694 | APOB | c.6407_6410del (p.Ser2136LeufsTer6) c.5869+272_5869+275del (n.5869+272_5869+275del) | |
2 | g.21010460_21010461del | CA2658056053 | APOB | c.6409_6410del (p.His2137CysfsTer13) c.5869+274_5869+275del (n.5869+274_5869+275del) | gnomAD v4 |
2 | g.21010459G>A | CA346001818 | APOB | c.6409C>T (p.His2137Tyr) c.5869+274C>T (n.5869+274C>T) | gnomAD v4 |
2 | g.21010459G>C | CA346001819 | APOB | c.6409C>G (p.His2137Asp) c.5869+274C>G (n.5869+274C>G) | COSMIC |
2 | g.21010459G>T | CA346001820 | APOB | c.6409C>A (p.His2137Asn) c.5869+274C>A (n.5869+274C>A) | |
2 | g.21010460T>A | CA425345975 | APOB | c.6408A>T (p.Ser2136=) c.5869+273A>T (n.5869+273A>T) | |
2 | g.21010460T>C | CA425345977 | APOB | c.6408A>G (p.Ser2136=) c.5869+273A>G (n.5869+273A>G) | |
2 | g.21010460T>G | CA425345976 | APOB | c.6408A>C (p.Ser2136=) c.5869+273A>C (n.5869+273A>C) | |
2 | g.21010461G>A | CA346001821 | APOB | c.6407C>T (p.Ser2136Leu) c.5869+272C>T (n.5869+272C>T) | COSMIC |
2 | g.21010461G>C | CA346001822 | APOB | c.6407C>G (p.Ser2136Ter) c.5869+272C>G (n.5869+272C>G) | |
2 | g.21010461G>T | CA346001823 | APOB | c.6407C>A (p.Ser2136Ter) c.5869+272C>A (n.5869+272C>A) | |
2 | g.21010461_21010462insCTCA | CA2556348546 | APOB | c.6406_6407insTGAG (p.Ser2136LeufsTer16) c.5869+271_5869+272insTGAG (n.5869+271_5869+272insTGAG) | |
2 | g.21010462A>C | CA346001826 | APOB | c.6406T>G (p.Ser2136Ala) c.5869+271T>G (n.5869+271T>G) | |
2 | g.21010462A>G | CA346001825 | APOB | c.6406T>C (p.Ser2136Pro) c.5869+271T>C (n.5869+271T>C) | |
2 | g.21010462A>T | CA346001824 | APOB | c.6406T>A (p.Ser2136Thr) c.5869+271T>A (n.5869+271T>A) | |
2 | g.21010463A>C | CA425345980 | APOB | c.6405T>G (p.Val2135=) c.5869+270T>G (n.5869+270T>G) | |
2 | g.21010463A>G | CA425345981 | APOB | c.6405T>C (p.Val2135=) c.5869+270T>C (n.5869+270T>C) | |
2 | g.21010463A>T | CA425345982 | APOB | c.6405T>A (p.Val2135=) c.5869+270T>A (n.5869+270T>A) | |
2 | g.21010464A>C | CA346001827 | APOB | c.6404T>G (p.Val2135Gly) c.5869+269T>G (n.5869+269T>G) | |
2 | g.21010464A>G | CA346001828 | APOB | c.6404T>C (p.Val2135Ala) c.5869+269T>C (n.5869+269T>C) | |
2 | g.21010464A>T | CA346001829 | APOB | c.6404T>A (p.Val2135Asp) c.5869+269T>A (n.5869+269T>A) | gnomAD v4 |
2 | g.21010465del | CA2499215583 | APOB | c.6403del (p.Val2135PhefsTer8) c.5869+268del (n.5869+268del) | ClinVar dbSNP |
2 | g.21010465C>A | CA346001830 | APOB | c.6403G>T (p.Val2135Phe) c.5869+268G>T (n.5869+268G>T) | |
2 | g.21010465C>G | CA346001831 | APOB | c.6403G>C (p.Val2135Leu) c.5869+268G>C (n.5869+268G>C) | |
2 | g.21010465C>T | CA346001832 | APOB | c.6403G>A (p.Val2135Ile) c.5869+268G>A (n.5869+268G>A) | gnomAD v3 gnomAD v4 |
2 | g.21010466T>A | CA346001833 | APOB | c.6402A>T (p.Gln2134His) c.5869+267A>T (n.5869+267A>T) | |
2 | g.21010466T>C | CA425345988 | APOB | c.6402A>G (p.Gln2134=) c.5869+267A>G (n.5869+267A>G) | gnomAD v4 |
2 | g.21010466T>G | CA346001834 | APOB | c.6402A>C (p.Gln2134His) c.5869+267A>C (n.5869+267A>C) | dbSNP COSMIC |
2 | g.21010466T= | CA2493476713 | APOB | c.6402A= (p.Gln2134=) c.5869+267A= (n.5869+267A=) | |
2 | g.21010467T>A | CA346001835 | APOB | c.6401A>T (p.Gln2134Leu) c.5869+266A>T (n.5869+266A>T) | |
2 | g.21010467T>C | CA063155 | APOB | c.6401A>G (p.Gln2134Arg) c.5869+266A>G (n.5869+266A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010467T>G | CA346001836 | APOB | c.6401A>C (p.Gln2134Pro) c.5869+266A>C (n.5869+266A>C) | |
2 | g.21010467T= | CA2493476714 | APOB | c.6401A= (p.Gln2134=) c.5869+266A= (n.5869+266A=) | |
2 | g.21010468G>A | CA346001837 | APOB | c.6400C>T (p.Gln2134Ter) c.5869+265C>T (n.5869+265C>T) | |
2 | g.21010468G>C | CA346001838 | APOB | c.6400C>G (p.Gln2134Glu) c.5869+265C>G (n.5869+265C>G) | |
2 | g.21010468G= | CA2493476715 | APOB | c.6400C= (p.Gln2134=) c.5869+265C= (n.5869+265C=) | |
2 | g.21010468G>T | CA346001839 | APOB | c.6400C>A (p.Gln2134Lys) c.5869+265C>A (n.5869+265C>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010469T>A | CA346001841 | APOB | c.6399A>T (p.Arg2133Ser) c.5869+264A>T (n.5869+264A>T) | |
2 | g.21010469T>C | CA425345992 | APOB | c.6399A>G (p.Arg2133=) c.5869+264A>G (n.5869+264A>G) | |
2 | g.21010469T>G | CA346001840 | APOB | c.6399A>C (p.Arg2133Ser) c.5869+264A>C (n.5869+264A>C) | |
2 | g.21010470C>A | CA346001842 | APOB | c.6398G>T (p.Arg2133Ile) c.5869+263G>T (n.5869+263G>T) | |
2 | g.21010470C= | CA2493476716 | APOB | c.6398G= (p.Arg2133=) c.5869+263G= (n.5869+263G=) | |
2 | g.21010470C>G | CA346001843 | APOB | c.6398G>C (p.Arg2133Thr) c.5869+263G>C (n.5869+263G>C) | |
2 | g.21010470C>T | CA346001844 | APOB | c.6398G>A (p.Arg2133Lys) c.5869+263G>A (n.5869+263G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010471T>A | CA346001845 | APOB | c.6397A>T (p.Arg2133Ter) c.5869+262A>T (n.5869+262A>T) | |
2 | g.21010471T>C | CA346001846 | APOB | c.6397A>G (p.Arg2133Gly) c.5869+262A>G (n.5869+262A>G) | |
2 | g.21010471T>G | CA425345998 | APOB | c.6397A>C (p.Arg2133=) c.5869+262A>C (n.5869+262A>C) | |
2 | g.21010472C>A | CA346001847 | APOB | c.6396G>T (p.Glu2132Asp) c.5869+261G>T (n.5869+261G>T) | |
2 | g.21010472C>G | CA346001848 | APOB | c.6396G>C (p.Glu2132Asp) c.5869+261G>C (n.5869+261G>C) | |
2 | g.21010472C>T | CA425346000 | APOB | c.6396G>A (p.Glu2132=) c.5869+261G>A (n.5869+261G>A) | gnomAD v4 |
2 | g.21010473T>A | CA346001849 | APOB | c.6395A>T (p.Glu2132Val) c.5869+260A>T (n.5869+260A>T) | |
2 | g.21010473T>C | CA346001850 | APOB | c.6395A>G (p.Glu2132Gly) c.5869+260A>G (n.5869+260A>G) | |
2 | g.21010473T>G | CA346001851 | APOB | c.6395A>C (p.Glu2132Ala) c.5869+260A>C (n.5869+260A>C) |