Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21009258_21009259del | CA2698844032 | APOB | c.7612_7613del (p.Leu2538GlyfsTer6) c.5869+1477_5869+1478del (n.5869+1477_5869+1478del) | dbSNP |
2 | g.21009259A= | CA2493476152 | APOB | c.7609T= (p.Ser2537=) c.5869+1474T= (n.5869+1474T=) | |
2 | g.21009259A>C | CA345996783 | APOB | c.7609T>G (p.Ser2537Ala) c.5869+1474T>G (n.5869+1474T>G) | |
2 | g.21009259A>G | CA345996779 | APOB | c.7609T>C (p.Ser2537Pro) c.5869+1474T>C (n.5869+1474T>C) | gnomAD v4 |
2 | g.21009259A>T | CA345996781 | APOB | c.7609T>A (p.Ser2537Thr) c.5869+1474T>A (n.5869+1474T>A) | dbSNP |
2 | g.21009260C>A | CA425345638 | APOB | c.7608G>T (p.Leu2536=) c.5869+1473G>T (n.5869+1473G>T) | |
2 | g.21009260C= | CA2493476153 | APOB | c.7608G= (p.Leu2536=) c.5869+1473G= (n.5869+1473G=) | |
2 | g.21009260C>G | CA425345639 | APOB | c.7608G>C (p.Leu2536=) c.5869+1473G>C (n.5869+1473G>C) | |
2 | g.21009260C>T | CA425345640 | APOB | c.7608G>A (p.Leu2536=) c.5869+1473G>A (n.5869+1473G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21009260_21009261insCTGATTTTAT | CA531312745 | APOB | c.7607_7608insATAAAATCAG (p.Ser2537Ter) c.5869+1472_5869+1473insATAAAATCAG (n.5869+1472_5869+1473insATAAAATCAG) | dbSNP gnomAD v2 |
2 | g.21009261A= | CA2493476154 | APOB | c.7607T= (p.Leu2536=) c.5869+1472T= (n.5869+1472T=) | |
2 | g.21009261A>C | CA345996784 | APOB | c.7607T>G (p.Leu2536Arg) c.5869+1472T>G (n.5869+1472T>G) | |
2 | g.21009261A>G | CA064585 | APOB | c.7607T>C (p.Leu2536Pro) c.5869+1472T>C (n.5869+1472T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009261A>T | CA345996787 | APOB | c.7607T>A (p.Leu2536Gln) c.5869+1472T>A (n.5869+1472T>A) | |
2 | g.21009262G>A | CA425345643 | APOB | c.7606C>T (p.Leu2536=) c.5869+1471C>T (n.5869+1471C>T) | ClinVar dbSNP |
2 | g.21009262G>C | CA345996789 | APOB | c.7606C>G (p.Leu2536Val) c.5869+1471C>G (n.5869+1471C>G) | gnomAD v4 |
2 | g.21009262G= | CA2493476155 | APOB | c.7606C= (p.Leu2536=) c.5869+1471C= (n.5869+1471C=) | |
2 | g.21009262G>T | CA345996791 | APOB | c.7606C>A (p.Leu2536Met) c.5869+1471C>A (n.5869+1471C>A) | |
2 | g.21009263G>A | CA425345645 | APOB | c.7605C>T (p.Tyr2535=) c.5869+1470C>T (n.5869+1470C>T) | dbSNP gnomAD v4 |
2 | g.21009263G>C | CA345996792 | APOB | c.7605C>G (p.Tyr2535Ter) c.5869+1470C>G (n.5869+1470C>G) | |
2 | g.21009263G= | CA2493476156 | APOB | c.7605C= (p.Tyr2535=) c.5869+1470C= (n.5869+1470C=) | |
2 | g.21009263G>T | CA345996793 | APOB | c.7605C>A (p.Tyr2535Ter) c.5869+1470C>A (n.5869+1470C>A) | ClinVar dbSNP |
2 | g.21009264T>A | CA345996794 | APOB | c.7604A>T (p.Tyr2535Phe) c.5869+1469A>T (n.5869+1469A>T) | dbSNP |
2 | g.21009264T>C | CA345996795 | APOB | c.7604A>G (p.Tyr2535Cys) c.5869+1469A>G (n.5869+1469A>G) | |
2 | g.21009264T>G | CA345996796 | APOB | c.7604A>C (p.Tyr2535Ser) c.5869+1469A>C (n.5869+1469A>C) | |
2 | g.21009264T= | CA2493476157 | APOB | c.7604A= (p.Tyr2535=) c.5869+1469A= (n.5869+1469A=) | |
2 | g.21009265A= | CA2493476158 | APOB | c.7603T= (p.Tyr2535=) c.5869+1468T= (n.5869+1468T=) | |
2 | g.21009265A>C | CA345996798 | APOB | c.7603T>G (p.Tyr2535Asp) c.5869+1468T>G (n.5869+1468T>G) | |
2 | g.21009265A>G | CA064580 | APOB | c.7603T>C (p.Tyr2535His) c.5869+1468T>C (n.5869+1468T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009265A>T | CA345996797 | APOB | c.7603T>A (p.Tyr2535Asn) c.5869+1468T>A (n.5869+1468T>A) | |
2 | g.21009265_21009267delinsATC | CA2493476159 | APOB | c.7601_7603delinsGAT (p.Arg2534=) c.5869+1466_5869+1468delinsGAT (n.5869+1466_5869+1468delinsGAT) | |
2 | g.21009266T>A | CA425345649 | APOB | c.7602A>T (p.Arg2534=) c.5869+1467A>T (n.5869+1467A>T) | |
2 | g.21009266T>C | CA425345650 | APOB | c.7602A>G (p.Arg2534=) c.5869+1467A>G (n.5869+1467A>G) | |
2 | g.21009266T>G | CA425345648 | APOB | c.7602A>C (p.Arg2534=) c.5869+1467A>C (n.5869+1467A>C) | |
2 | g.21009266_21009267del | CA916488037 | APOB | c.7601_7602del (p.Arg2534LeufsTer10) c.5869+1466_5869+1467del (n.5869+1466_5869+1467del) | dbSNP |
2 | g.21009267C>A | CA345996799 | APOB | c.7601G>T (p.Arg2534Leu) c.5869+1466G>T (n.5869+1466G>T) | |
2 | g.21009267C= | CA2493476160 | APOB | c.7601G= (p.Arg2534=) c.5869+1466G= (n.5869+1466G=) | |
2 | g.21009267C>G | CA345996800 | APOB | c.7601G>C (p.Arg2534Pro) c.5869+1466G>C (n.5869+1466G>C) | |
2 | g.21009267C>T | CA43502235 | APOB | c.7601G>A (p.Arg2534Gln) c.5869+1466G>A (n.5869+1466G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.21009268G>A | CA064573 | APOB | c.7600C>T (p.Arg2534Ter) c.5869+1465C>T (n.5869+1465C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009268G>C | CA345996801 | APOB | c.7600C>G (p.Arg2534Gly) c.5869+1465C>G (n.5869+1465C>G) | |
2 | g.21009268G= | CA2493476161 | APOB | c.7600C= (p.Arg2534=) c.5869+1465C= (n.5869+1465C=) | |
2 | g.21009268G>T | CA425345651 | APOB | c.7600C>A (p.Arg2534=) c.5869+1465C>A (n.5869+1465C>A) | |
2 | g.21009269T>A | CA345996803 | APOB | c.7599A>T (p.Gln2533His) c.5869+1464A>T (n.5869+1464A>T) | |
2 | g.21009269T>C | CA425345653 | APOB | c.7599A>G (p.Gln2533=) c.5869+1464A>G (n.5869+1464A>G) | |
2 | g.21009269T>G | CA345996802 | APOB | c.7599A>C (p.Gln2533His) c.5869+1464A>C (n.5869+1464A>C) | |
2 | g.21009269T= | CA2493476162 | APOB | c.7599A= (p.Gln2533=) c.5869+1464A= (n.5869+1464A=) | |
2 | g.21009269_21009270insGC | CA916488039 | APOB | c.7598_7599insGC (p.Arg2534HisfsTer7) c.5869+1463_5869+1464insGC (n.5869+1463_5869+1464insGC) | dbSNP |
2 | g.21009270T>A | CA345996804 | APOB | c.7598A>T (p.Gln2533Leu) c.5869+1463A>T (n.5869+1463A>T) | |
2 | g.21009270T>C | CA064568 | APOB | c.7598A>G (p.Gln2533Arg) c.5869+1463A>G (n.5869+1463A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009270T>G | CA345996805 | APOB | c.7598A>C (p.Gln2533Pro) c.5869+1463A>C (n.5869+1463A>C) | |
2 | g.21009270T= | CA2493476163 | APOB | c.7598A= (p.Gln2533=) c.5869+1463A= (n.5869+1463A=) | |
2 | g.21009271G>A | CA345996806 | APOB | c.7597C>T (p.Gln2533Ter) c.5869+1462C>T (n.5869+1462C>T) | |
2 | g.21009271G>C | CA345996807 | APOB | c.7597C>G (p.Gln2533Glu) c.5869+1462C>G (n.5869+1462C>G) | dbSNP |
2 | g.21009271G= | CA2493476164 | APOB | c.7597C= (p.Gln2533=) c.5869+1462C= (n.5869+1462C=) | |
2 | g.21009271G>T | CA345996808 | APOB | c.7597C>A (p.Gln2533Lys) c.5869+1462C>A (n.5869+1462C>A) | |
2 | g.21009272A= | CA2493476165 | APOB | c.7596T= (p.Leu2532=) c.5869+1461T= (n.5869+1461T=) | |
2 | g.21009272A>C | CA425345657 | APOB | c.7596T>G (p.Leu2532=) c.5869+1461T>G (n.5869+1461T>G) | dbSNP |
2 | g.21009272A>G | CA064562 | APOB | c.7596T>C (p.Leu2532=) c.5869+1461T>C (n.5869+1461T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009272A>T | CA425345658 | APOB | c.7596T>A (p.Leu2532=) c.5869+1461T>A (n.5869+1461T>A) | gnomAD v4 |
2 | g.21009273A= | CA2493476166 | APOB | c.7595T= (p.Leu2532=) c.5869+1460T= (n.5869+1460T=) | |
2 | g.21009273A>C | CA345996810 | APOB | c.7595T>G (p.Leu2532Arg) c.5869+1460T>G (n.5869+1460T>G) | |
2 | g.21009273A>G | CA345996811 | APOB | c.7595T>C (p.Leu2532Pro) c.5869+1460T>C (n.5869+1460T>C) | dbSNP gnomAD v4 |
2 | g.21009273A>T | CA345996809 | APOB | c.7595T>A (p.Leu2532His) c.5869+1460T>A (n.5869+1460T>A) | |
2 | g.21009274G>A | CA345996812 | APOB | c.7594C>T (p.Leu2532Phe) c.5869+1459C>T (n.5869+1459C>T) | |
2 | g.21009274G>C | CA345996813 | APOB | c.7594C>G (p.Leu2532Val) c.5869+1459C>G (n.5869+1459C>G) | |
2 | g.21009274G>T | CA345996814 | APOB | c.7594C>A (p.Leu2532Ile) c.5869+1459C>A (n.5869+1459C>A) | |
2 | g.21009275T>A | CA345996815 | APOB | c.7593A>T (p.Glu2531Asp) c.5869+1458A>T (n.5869+1458A>T) | ClinVar gnomAD v4 |
2 | g.21009275T>C | CA425345663 | APOB | c.7593A>G (p.Glu2531=) c.5869+1458A>G (n.5869+1458A>G) | |
2 | g.21009275T>G | CA345996816 | APOB | c.7593A>C (p.Glu2531Asp) c.5869+1458A>C (n.5869+1458A>C) | |
2 | g.21009276T>A | CA345996817 | APOB | c.7592A>T (p.Glu2531Val) c.5869+1457A>T (n.5869+1457A>T) | |
2 | g.21009276T>C | CA345996818 | APOB | c.7592A>G (p.Glu2531Gly) c.5869+1457A>G (n.5869+1457A>G) | |
2 | g.21009276T>G | CA345996819 | APOB | c.7592A>C (p.Glu2531Ala) c.5869+1457A>C (n.5869+1457A>C) | |
2 | g.21009277C>A | CA345996820 | APOB | c.7591G>T (p.Glu2531Ter) c.5869+1456G>T (n.5869+1456G>T) | |
2 | g.21009277C= | CA2493476167 | APOB | c.7591G= (p.Glu2531=) c.5869+1456G= (n.5869+1456G=) | |
2 | g.21009277C>G | CA345996821 | APOB | c.7591G>C (p.Glu2531Gln) c.5869+1456G>C (n.5869+1456G>C) | |
2 | g.21009277C>T | CA43502296 | APOB | c.7591G>A (p.Glu2531Lys) c.5869+1456G>A (n.5869+1456G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.21009278C>A | CA345996822 | APOB | c.7590G>T (p.Gln2530His) c.5869+1455G>T (n.5869+1455G>T) | |
2 | g.21009278C>G | CA345996823 | APOB | c.7590G>C (p.Gln2530His) c.5869+1455G>C (n.5869+1455G>C) | |
2 | g.21009278C>T | CA425345667 | APOB | c.7590G>A (p.Gln2530=) c.5869+1455G>A (n.5869+1455G>A) | gnomAD v4 |
2 | g.21009279T>A | CA345996826 | APOB | c.7589A>T (p.Gln2530Leu) c.5869+1454A>T (n.5869+1454A>T) | |
2 | g.21009279T>C | CA345996825 | APOB | c.7589A>G (p.Gln2530Arg) c.5869+1454A>G (n.5869+1454A>G) | |
2 | g.21009279T>G | CA345996824 | APOB | c.7589A>C (p.Gln2530Pro) c.5869+1454A>C (n.5869+1454A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009279T= | CA2493476168 | APOB | c.7589A= (p.Gln2530=) c.5869+1454A= (n.5869+1454A=) | |
2 | g.21009280G>A | CA345996827 | APOB | c.7588C>T (p.Gln2530Ter) c.5869+1453C>T (n.5869+1453C>T) | |
2 | g.21009280G>C | CA345996828 | APOB | c.7588C>G (p.Gln2530Glu) c.5869+1453C>G (n.5869+1453C>G) | |
2 | g.21009280G>T | CA345996829 | APOB | c.7588C>A (p.Gln2530Lys) c.5869+1453C>A (n.5869+1453C>A) | COSMIC |
2 | g.21009281C>A | CA345996830 | APOB | c.7587G>T (p.Gln2529His) c.5869+1452G>T (n.5869+1452G>T) | |
2 | g.21009281C= | CA2493476169 | APOB | c.7587G= (p.Gln2529=) c.5869+1452G= (n.5869+1452G=) | |
2 | g.21009281C>G | CA345996831 | APOB | c.7587G>C (p.Gln2529His) c.5869+1452G>C (n.5869+1452G>C) | |
2 | g.21009281C>T | CA064556 | APOB | c.7587G>A (p.Gln2529=) c.5869+1452G>A (n.5869+1452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009282T>A | CA345996832 | APOB | c.7586A>T (p.Gln2529Leu) c.5869+1451A>T (n.5869+1451A>T) | |
2 | g.21009282T>C | CA345996833 | APOB | c.7586A>G (p.Gln2529Arg) c.5869+1451A>G (n.5869+1451A>G) | |
2 | g.21009282T>G | CA345996834 | APOB | c.7586A>C (p.Gln2529Pro) c.5869+1451A>C (n.5869+1451A>C) | |
2 | g.21009283G>A | CA345996835 | APOB | c.7585C>T (p.Gln2529Ter) c.5869+1450C>T (n.5869+1450C>T) | |
2 | g.21009283G>C | CA43502306 | APOB | c.7585C>G (p.Gln2529Glu) c.5869+1450C>G (n.5869+1450C>G) | dbSNP |
2 | g.21009283G= | CA2493476170 | APOB | c.7585C= (p.Gln2529=) c.5869+1450C= (n.5869+1450C=) | |
2 | g.21009283G>T | CA064549 | APOB | c.7585C>A (p.Gln2529Lys) c.5869+1450C>A (n.5869+1450C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009284A= | CA2493476171 | APOB | c.7584T= (p.Ile2528=) c.5869+1449T= (n.5869+1449T=) | |
2 | g.21009284A>C | CA064544 | APOB | c.7584T>G (p.Ile2528Met) c.5869+1449T>G (n.5869+1449T>G) | dbSNP ExAC gnomAD v2 |
2 | g.21009284A>G | CA425344948 | APOB | c.7584T>C (p.Ile2528=) c.5869+1449T>C (n.5869+1449T>C) | |
2 | g.21009284A>T | CA425344949 | APOB | c.7584T>A (p.Ile2528=) c.5869+1449T>A (n.5869+1449T>A) | |
2 | g.21009285A>C | CA345996837 | APOB | c.7583T>G (p.Ile2528Ser) c.5869+1448T>G (n.5869+1448T>G) | |
2 | g.21009285A>G | CA345996838 | APOB | c.7583T>C (p.Ile2528Thr) c.5869+1448T>C (n.5869+1448T>C) | |
2 | g.21009285A>T | CA345996836 | APOB | c.7583T>A (p.Ile2528Asn) c.5869+1448T>A (n.5869+1448T>A) | |
2 | g.21009286T>A | CA345996839 | APOB | c.7582A>T (p.Ile2528Phe) c.5869+1447A>T (n.5869+1447A>T) | |
2 | g.21009286T>C | CA064540 | APOB | c.7582A>G (p.Ile2528Val) c.5869+1447A>G (n.5869+1447A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21009286T>G | CA345996840 | APOB | c.7582A>C (p.Ile2528Leu) c.5869+1447A>C (n.5869+1447A>C) | |
2 | g.21009286T= | CA2493476172 | APOB | c.7582A= (p.Ile2528=) c.5869+1447A= (n.5869+1447A=) | |
2 | g.21009287G>A | CA425344950 | APOB | c.7581C>T (p.Asp2527=) c.5869+1446C>T (n.5869+1446C>T) | dbSNP gnomAD v4 |
2 | g.21009287G>C | CA345996841 | APOB | c.7581C>G (p.Asp2527Glu) c.5869+1446C>G (n.5869+1446C>G) | |
2 | g.21009287G= | CA2493476173 | APOB | c.7581C= (p.Asp2527=) c.5869+1446C= (n.5869+1446C=) | |
2 | g.21009287G>T | CA345996842 | APOB | c.7581C>A (p.Asp2527Glu) c.5869+1446C>A (n.5869+1446C>A) | |
2 | g.21009288T>A | CA345996843 | APOB | c.7580A>T (p.Asp2527Val) c.5869+1445A>T (n.5869+1445A>T) | |
2 | g.21009288T>C | CA345996844 | APOB | c.7580A>G (p.Asp2527Gly) c.5869+1445A>G (n.5869+1445A>G) | dbSNP gnomAD v4 |
2 | g.21009288T>G | CA345996845 | APOB | c.7580A>C (p.Asp2527Ala) c.5869+1445A>C (n.5869+1445A>C) | |
2 | g.21009288T= | CA2493476174 | APOB | c.7580A= (p.Asp2527=) c.5869+1445A= (n.5869+1445A=) | |
2 | g.21009289C>A | CA345996846 | APOB | c.7579G>T (p.Asp2527Tyr) c.5869+1444G>T (n.5869+1444G>T) | |
2 | g.21009289C>G | CA345996847 | APOB | c.7579G>C (p.Asp2527His) c.5869+1444G>C (n.5869+1444G>C) | |
2 | g.21009289C>T | CA345996848 | APOB | c.7579G>A (p.Asp2527Asn) c.5869+1444G>A (n.5869+1444G>A) | COSMIC |
2 | g.21009290C>A | CA345996851 | APOB | c.7578G>T (p.Met2526Ile) c.5869+1443G>T (n.5869+1443G>T) | |
2 | g.21009290C>G | CA345996850 | APOB | c.7578G>C (p.Met2526Ile) c.5869+1443G>C (n.5869+1443G>C) | |
2 | g.21009290C>T | CA345996849 | APOB | c.7578G>A (p.Met2526Ile) c.5869+1443G>A (n.5869+1443G>A) | |
2 | g.21009291A= | CA2493476175 | APOB | c.7577T= (p.Met2526=) c.5869+1442T= (n.5869+1442T=) | |
2 | g.21009291A>C | CA345996852 | APOB | c.7577T>G (p.Met2526Arg) c.5869+1442T>G (n.5869+1442T>G) | ClinVar gnomAD v4 |
2 | g.21009291A>G | CA064535 | APOB | c.7577T>C (p.Met2526Thr) c.5869+1442T>C (n.5869+1442T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009291A>T | CA345996853 | APOB | c.7577T>A (p.Met2526Lys) c.5869+1442T>A (n.5869+1442T>A) | gnomAD v4 |
2 | g.21009292T>A | CA345996854 | APOB | c.7576A>T (p.Met2526Leu) c.5869+1441A>T (n.5869+1441A>T) | |
2 | g.21009292T>C | CA345996855 | APOB | c.7576A>G (p.Met2526Val) c.5869+1441A>G (n.5869+1441A>G) | dbSNP |
2 | g.21009292T>G | CA345996856 | APOB | c.7576A>C (p.Met2526Leu) c.5869+1441A>C (n.5869+1441A>C) | |
2 | g.21009292T= | CA2493476176 | APOB | c.7576A= (p.Met2526=) c.5869+1441A= (n.5869+1441A=) | |
2 | g.21009293T>A | CA345996857 | APOB | c.7575A>T (p.Gln2525His) c.5869+1440A>T (n.5869+1440A>T) | |
2 | g.21009293T>C | CA064527 | APOB | c.7575A>G (p.Gln2525=) c.5869+1440A>G (n.5869+1440A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009293T>G | CA345996858 | APOB | c.7575A>C (p.Gln2525His) c.5869+1440A>C (n.5869+1440A>C) | |
2 | g.21009293T= | CA2493476177 | APOB | c.7575A= (p.Gln2525=) c.5869+1440A= (n.5869+1440A=) | |
2 | g.21009294T>A | CA345996859 | APOB | c.7574A>T (p.Gln2525Leu) c.5869+1439A>T (n.5869+1439A>T) | |
2 | g.21009294T>C | CA345996860 | APOB | c.7574A>G (p.Gln2525Arg) c.5869+1439A>G (n.5869+1439A>G) | |
2 | g.21009294T>G | CA345996861 | APOB | c.7574A>C (p.Gln2525Pro) c.5869+1439A>C (n.5869+1439A>C) | |
2 | g.21009295G>A | CA345996864 | APOB | c.7573C>T (p.Gln2525Ter) c.5869+1438C>T (n.5869+1438C>T) | |
2 | g.21009295G>C | CA345996862 | APOB | c.7573C>G (p.Gln2525Glu) c.5869+1438C>G (n.5869+1438C>G) | COSMIC |
2 | g.21009295G>T | CA345996863 | APOB | c.7573C>A (p.Gln2525Lys) c.5869+1438C>A (n.5869+1438C>A) | |
2 | g.21009296A>C | CA345996865 | APOB | c.7572T>G (p.Tyr2524Ter) c.5869+1437T>G (n.5869+1437T>G) | |
2 | g.21009296A>G | CA425344955 | APOB | c.7572T>C (p.Tyr2524=) c.5869+1437T>C (n.5869+1437T>C) | |
2 | g.21009296A>T | CA345996866 | APOB | c.7572T>A (p.Tyr2524Ter) c.5869+1437T>A (n.5869+1437T>A) | |
2 | g.21009297T>A | CA345996867 | APOB | c.7571A>T (p.Tyr2524Phe) c.5869+1436A>T (n.5869+1436A>T) | |
2 | g.21009297T>C | CA345996869 | APOB | c.7571A>G (p.Tyr2524Cys) c.5869+1436A>G (n.5869+1436A>G) | |
2 | g.21009297T>G | CA345996868 | APOB | c.7571A>C (p.Tyr2524Ser) c.5869+1436A>C (n.5869+1436A>C) | |
2 | g.21009298A= | CA2493476178 | APOB | c.7570T= (p.Tyr2524=) c.5869+1435T= (n.5869+1435T=) | |
2 | g.21009298A>C | CA345996870 | APOB | c.7570T>G (p.Tyr2524Asp) c.5869+1435T>G (n.5869+1435T>G) | |
2 | g.21009298A>G | CA43502361 | APOB | c.7570T>C (p.Tyr2524His) c.5869+1435T>C (n.5869+1435T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009298A>T | CA345996871 | APOB | c.7570T>A (p.Tyr2524Asn) c.5869+1435T>A (n.5869+1435T>A) | |
2 | g.21009299C>A | CA345996872 | APOB | c.7569G>T (p.Met2523Ile) c.5869+1434G>T (n.5869+1434G>T) | |
2 | g.21009299C= | CA2493476179 | APOB | c.7569G= (p.Met2523=) c.5869+1434G= (n.5869+1434G=) | |
2 | g.21009299C>G | CA345996873 | APOB | c.7569G>C (p.Met2523Ile) c.5869+1434G>C (n.5869+1434G>C) | |
2 | g.21009299C>T | CA43502390 | APOB | c.7569G>A (p.Met2523Ile) c.5869+1434G>A (n.5869+1434G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009300A= | CA2493476180 | APOB | c.7568T= (p.Met2523=) c.5869+1433T= (n.5869+1433T=) | |
2 | g.21009300A>C | CA43502412 | APOB | c.7568T>G (p.Met2523Arg) c.5869+1433T>G (n.5869+1433T>G) | dbSNP |
2 | g.21009300A>G | CA345996874 | APOB | c.7568T>C (p.Met2523Thr) c.5869+1433T>C (n.5869+1433T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009300A>T | CA345996875 | APOB | c.7568T>A (p.Met2523Lys) c.5869+1433T>A (n.5869+1433T>A) | |
2 | g.21009301T>A | CA345996876 | APOB | c.7567A>T (p.Met2523Leu) c.5869+1432A>T (n.5869+1432A>T) | |
2 | g.21009301T>C | CA345996877 | APOB | c.7567A>G (p.Met2523Val) c.5869+1432A>G (n.5869+1432A>G) | ClinVar |
2 | g.21009301T>G | CA345996878 | APOB | c.7567A>C (p.Met2523Leu) c.5869+1432A>C (n.5869+1432A>C) | ClinVar |
2 | g.21009302T>A | CA425344958 | APOB | c.7566A>T (p.Arg2522=) c.5869+1431A>T (n.5869+1431A>T) | |
2 | g.21009302T>C | CA064523 | APOB | c.7566A>G (p.Arg2522=) c.5869+1431A>G (n.5869+1431A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009302T>G | CA425344959 | APOB | c.7566A>C (p.Arg2522=) c.5869+1431A>C (n.5869+1431A>C) | |
2 | g.21009302T= | CA2493476181 | APOB | c.7566A= (p.Arg2522=) c.5869+1431A= (n.5869+1431A=) | |
2 | g.21009303C>A | CA345996879 | APOB | c.7565G>T (p.Arg2522Leu) c.5869+1430G>T (n.5869+1430G>T) | gnomAD v4 |
2 | g.21009303C= | CA2493476182 | APOB | c.7565G= (p.Arg2522=) c.5869+1430G= (n.5869+1430G=) | |
2 | g.21009303C>G | CA345996880 | APOB | c.7565G>C (p.Arg2522Pro) c.5869+1430G>C (n.5869+1430G>C) | |
2 | g.21009303C>T | CA064517 | APOB | c.7565G>A (p.Arg2522Gln) c.5869+1430G>A (n.5869+1430G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009304G>A | CA022919 | APOB | c.7564C>T (p.Arg2522Ter) c.5869+1429C>T (n.5869+1429C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009304G>C | CA345996881 | APOB | c.7564C>G (p.Arg2522Gly) c.5869+1429C>G (n.5869+1429C>G) | |
2 | g.21009304G= | CA2493476183 | APOB | c.7564C= (p.Arg2522=) c.5869+1429C= (n.5869+1429C=) | |
2 | g.21009304G>T | CA425344960 | APOB | c.7564C>A (p.Arg2522=) c.5869+1429C>A (n.5869+1429C>A) | |
2 | g.21009305G>A | CA425344961 | APOB | c.7563C>T (p.Asp2521=) c.5869+1428C>T (n.5869+1428C>T) | |
2 | g.21009305G>C | CA345996882 | APOB | c.7563C>G (p.Asp2521Glu) c.5869+1428C>G (n.5869+1428C>G) | |
2 | g.21009305G>T | CA345996883 | APOB | c.7563C>A (p.Asp2521Glu) c.5869+1428C>A (n.5869+1428C>A) | |
2 | g.21009306T>A | CA345996884 | APOB | c.7562A>T (p.Asp2521Val) c.5869+1427A>T (n.5869+1427A>T) | |
2 | g.21009306T>C | CA345996885 | APOB | c.7562A>G (p.Asp2521Gly) c.5869+1427A>G (n.5869+1427A>G) | COSMIC |
2 | g.21009306T>G | CA345996886 | APOB | c.7562A>C (p.Asp2521Ala) c.5869+1427A>C (n.5869+1427A>C) | |
2 | g.21009307C>A | CA345996887 | APOB | c.7561G>T (p.Asp2521Tyr) c.5869+1426G>T (n.5869+1426G>T) | |
2 | g.21009307C>G | CA345996888 | APOB | c.7561G>C (p.Asp2521His) c.5869+1426G>C (n.5869+1426G>C) | |
2 | g.21009307C>T | CA345996889 | APOB | c.7561G>A (p.Asp2521Asn) c.5869+1426G>A (n.5869+1426G>A) | |
2 | g.21009308T>A | CA425344962 | APOB | c.7560A>T (p.Arg2520=) c.5869+1425A>T (n.5869+1425A>T) | |
2 | g.21009308T>C | CA425344963 | APOB | c.7560A>G (p.Arg2520=) c.5869+1425A>G (n.5869+1425A>G) | |
2 | g.21009308T>G | CA425344964 | APOB | c.7560A>C (p.Arg2520=) c.5869+1425A>C (n.5869+1425A>C) | |
2 | g.21009309C>A | CA345996890 | APOB | c.7559G>T (p.Arg2520Leu) c.5869+1424G>T (n.5869+1424G>T) | |
2 | g.21009309C= | CA2493476184 | APOB | c.7559G= (p.Arg2520=) c.5869+1424G= (n.5869+1424G=) | |
2 | g.21009309C>G | CA345996891 | APOB | c.7559G>C (p.Arg2520Pro) c.5869+1424G>C (n.5869+1424G>C) | gnomAD v4 |
2 | g.21009309C>T | CA43502444 | APOB | c.7559G>A (p.Arg2520Gln) c.5869+1424G>A (n.5869+1424G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009310G>A | CA064509 | APOB | c.7558C>T (p.Arg2520Ter) c.5869+1423C>T (n.5869+1423C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21009310G>C | CA345996892 | APOB | c.7558C>G (p.Arg2520Gly) c.5869+1423C>G (n.5869+1423C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009310G= | CA2493476185 | APOB | c.7558C= (p.Arg2520=) c.5869+1423C= (n.5869+1423C=) | |
2 | g.21009310G>T | CA425344965 | APOB | c.7558C>A (p.Arg2520=) c.5869+1423C>A (n.5869+1423C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21009311T>A | CA425344966 | APOB | c.7557A>T (p.Thr2519=) c.5869+1422A>T (n.5869+1422A>T) | |
2 | g.21009311T>C | CA425344967 | APOB | c.7557A>G (p.Thr2519=) c.5869+1422A>G (n.5869+1422A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.21009311T>G | CA425344968 | APOB | c.7557A>C (p.Thr2519=) c.5869+1422A>C (n.5869+1422A>C) | |
2 | g.21009311T= | CA2493476186 | APOB | c.7557A= (p.Thr2519=) c.5869+1422A= (n.5869+1422A=) | |
2 | g.21009312G>A | CA345996893 | APOB | c.7556C>T (p.Thr2519Ile) c.5869+1421C>T (n.5869+1421C>T) | |
2 | g.21009312G>C | CA345996894 | APOB | c.7556C>G (p.Thr2519Arg) c.5869+1421C>G (n.5869+1421C>G) | |
2 | g.21009312G>T | CA345996895 | APOB | c.7556C>A (p.Thr2519Lys) c.5869+1421C>A (n.5869+1421C>A) | |
2 | g.21009313T>A | CA345996898 | APOB | c.7555A>T (p.Thr2519Ser) c.5869+1420A>T (n.5869+1420A>T) | |
2 | g.21009313T>C | CA345996897 | APOB | c.7555A>G (p.Thr2519Ala) c.5869+1420A>G (n.5869+1420A>G) | gnomAD v4 |
2 | g.21009313T>G | CA345996896 | APOB | c.7555A>C (p.Thr2519Pro) c.5869+1420A>C (n.5869+1420A>C) | |
2 | g.21009314A= | CA2493476187 | APOB | c.7554T= (p.Asp2518=) c.5869+1419T= (n.5869+1419T=) | |
2 | g.21009314A>C | CA345996899 | APOB | c.7554T>G (p.Asp2518Glu) c.5869+1419T>G (n.5869+1419T>G) | |
2 | g.21009314A>G | CA064504 | APOB | c.7554T>C (p.Asp2518=) c.5869+1419T>C (n.5869+1419T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009314A>T | CA345996900 | APOB | c.7554T>A (p.Asp2518Glu) c.5869+1419T>A (n.5869+1419T>A) | |
2 | g.21009315T>A | CA345996901 | APOB | c.7553A>T (p.Asp2518Val) c.5869+1418A>T (n.5869+1418A>T) | |
2 | g.21009315T>C | CA345996902 | APOB | c.7553A>G (p.Asp2518Gly) c.5869+1418A>G (n.5869+1418A>G) | gnomAD v4 |
2 | g.21009315T>G | CA345996903 | APOB | c.7553A>C (p.Asp2518Ala) c.5869+1418A>C (n.5869+1418A>C) | |
2 | g.21009316C>A | CA345996904 | APOB | c.7552G>T (p.Asp2518Tyr) c.5869+1417G>T (n.5869+1417G>T) | |
2 | g.21009316C>G | CA345996906 | APOB | c.7552G>C (p.Asp2518His) c.5869+1417G>C (n.5869+1417G>C) | |
2 | g.21009316C>T | CA345996905 | APOB | c.7552G>A (p.Asp2518Asn) c.5869+1417G>A (n.5869+1417G>A) | |
2 | g.21009317T>A | CA345996907 | APOB | c.7551A>T (p.Glu2517Asp) c.5869+1416A>T (n.5869+1416A>T) | |
2 | g.21009317T>C | CA425344969 | APOB | c.7551A>G (p.Glu2517=) c.5869+1416A>G (n.5869+1416A>G) | |
2 | g.21009317T>G | CA345996908 | APOB | c.7551A>C (p.Glu2517Asp) c.5869+1416A>C (n.5869+1416A>C) | |
2 | g.21009318T>A | CA345996909 | APOB | c.7550A>T (p.Glu2517Val) c.5869+1415A>T (n.5869+1415A>T) | |
2 | g.21009318T>C | CA064499 | APOB | c.7550A>G (p.Glu2517Gly) c.5869+1415A>G (n.5869+1415A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009318T>G | CA345996910 | APOB | c.7550A>C (p.Glu2517Ala) c.5869+1415A>C (n.5869+1415A>C) | |
2 | g.21009318T= | CA2493476188 | APOB | c.7550A= (p.Glu2517=) c.5869+1415A= (n.5869+1415A=) | |
2 | g.21009319C>A | CA345996911 | APOB | c.7549G>T (p.Glu2517Ter) c.5869+1414G>T (n.5869+1414G>T) | |
2 | g.21009319C= | CA2493476189 | APOB | c.7549G= (p.Glu2517=) c.5869+1414G= (n.5869+1414G=) | |
2 | g.21009319C>G | CA345996912 | APOB | c.7549G>C (p.Glu2517Gln) c.5869+1414G>C (n.5869+1414G>C) | |
2 | g.21009319C>T | CA345996913 | APOB | c.7549G>A (p.Glu2517Lys) c.5869+1414G>A (n.5869+1414G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009320T>A | CA425344974 | APOB | c.7548A>T (p.Leu2516=) c.5869+1413A>T (n.5869+1413A>T) | |
2 | g.21009320T>C | CA425344972 | APOB | c.7548A>G (p.Leu2516=) c.5869+1413A>G (n.5869+1413A>G) | |
2 | g.21009320T>G | CA425344971 | APOB | c.7548A>C (p.Leu2516=) c.5869+1413A>C (n.5869+1413A>C) | |
2 | g.21009321A>C | CA345996914 | APOB | c.7547T>G (p.Leu2516Arg) c.5869+1412T>G (n.5869+1412T>G) | |
2 | g.21009321A>G | CA345996915 | APOB | c.7547T>C (p.Leu2516Pro) c.5869+1412T>C (n.5869+1412T>C) | |
2 | g.21009321A>T | CA345996916 | APOB | c.7547T>A (p.Leu2516Gln) c.5869+1412T>A (n.5869+1412T>A) | |
2 | g.21009322G>A | CA425344978 | APOB | c.7546C>T (p.Leu2516=) c.5869+1411C>T (n.5869+1411C>T) | |
2 | g.21009322G>C | CA345996917 | APOB | c.7546C>G (p.Leu2516Val) c.5869+1411C>G (n.5869+1411C>G) | |
2 | g.21009322G>T | CA345996918 | APOB | c.7546C>A (p.Leu2516Ile) c.5869+1411C>A (n.5869+1411C>A) | |
2 | g.21009323G>A | CA022913 | APOB | c.7545C>T (p.Thr2515=) c.5869+1410C>T (n.5869+1410C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009323G>C | CA425344980 | APOB | c.7545C>G (p.Thr2515=) c.5869+1410C>G (n.5869+1410C>G) | |
2 | g.21009323G= | CA2493476190 | APOB | c.7545C= (p.Thr2515=) c.5869+1410C= (n.5869+1410C=) | |
2 | g.21009323G>T | CA425344979 | APOB | c.7545C>A (p.Thr2515=) c.5869+1410C>A (n.5869+1410C>A) | |
2 | g.21009324G>A | CA345996920 | APOB | c.7544C>T (p.Thr2515Ile) c.5869+1409C>T (n.5869+1409C>T) | gnomAD v4 |
2 | g.21009324G>C | CA345996919 | APOB | c.7544C>G (p.Thr2515Ser) c.5869+1409C>G (n.5869+1409C>G) | |
2 | g.21009324G>T | CA345996921 | APOB | c.7544C>A (p.Thr2515Asn) c.5869+1409C>A (n.5869+1409C>A) | |
2 | g.21009325T>A | CA345996922 | APOB | c.7543A>T (p.Thr2515Ser) c.5869+1408A>T (n.5869+1408A>T) | |
2 | g.21009325T>C | CA345996923 | APOB | c.7543A>G (p.Thr2515Ala) c.5869+1408A>G (n.5869+1408A>G) | |
2 | g.21009325T>G | CA345996924 | APOB | c.7543A>C (p.Thr2515Pro) c.5869+1408A>C (n.5869+1408A>C) | |
2 | g.21009326C>A | CA345996925 | APOB | c.7542G>T (p.Glu2514Asp) c.5869+1407G>T (n.5869+1407G>T) | |
2 | g.21009326C= | CA2493476191 | APOB | c.7542G= (p.Glu2514=) c.5869+1407G= (n.5869+1407G=) | |
2 | g.21009326C>G | CA345996926 | APOB | c.7542G>C (p.Glu2514Asp) c.5869+1407G>C (n.5869+1407G>C) | gnomAD v4 |
2 | g.21009326C>T | CA425344984 | APOB | c.7542G>A (p.Glu2514=) c.5869+1407G>A (n.5869+1407G>A) | ClinVar dbSNP |
2 | g.21009326_21009327insAGCA | CA2543603453 | APOB | c.7541_7542insTGCT (p.Glu2514AspfsTer32) c.5869+1406_5869+1407insTGCT (n.5869+1406_5869+1407insTGCT) | |
2 | g.21009327T>A | CA345996927 | APOB | c.7541A>T (p.Glu2514Val) c.5869+1406A>T (n.5869+1406A>T) | |
2 | g.21009327T>C | CA345996928 | APOB | c.7541A>G (p.Glu2514Gly) c.5869+1406A>G (n.5869+1406A>G) | |
2 | g.21009327T>G | CA345996929 | APOB | c.7541A>C (p.Glu2514Ala) c.5869+1406A>C (n.5869+1406A>C) | |
2 | g.21009328C>A | CA345996931 | APOB | c.7540G>T (p.Glu2514Ter) c.5869+1405G>T (n.5869+1405G>T) | |
2 | g.21009328C= | CA2493476192 | APOB | c.7540G= (p.Glu2514=) c.5869+1405G= (n.5869+1405G=) | |
2 | g.21009328C>G | CA345996933 | APOB | c.7540G>C (p.Glu2514Gln) c.5869+1405G>C (n.5869+1405G>C) | |
2 | g.21009328C>T | CA345996934 | APOB | c.7540G>A (p.Glu2514Lys) c.5869+1405G>A (n.5869+1405G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009329T>A | CA425344991 | APOB | c.7539A>T (p.Arg2513=) c.5869+1404A>T (n.5869+1404A>T) | |
2 | g.21009329T>C | CA425344992 | APOB | c.7539A>G (p.Arg2513=) c.5869+1404A>G (n.5869+1404A>G) | |
2 | g.21009329T>G | CA425344993 | APOB | c.7539A>C (p.Arg2513=) c.5869+1404A>C (n.5869+1404A>C) | |
2 | g.21009330_21009335del | CA2529111314 | APOB | c.7534_7539del (p.Phe2512_Arg2513del) c.5869+1399_5869+1404del (n.5869+1399_5869+1404del) | |
2 | g.21009330C>A | CA345996935 | APOB | c.7538G>T (p.Arg2513Leu) c.5869+1403G>T (n.5869+1403G>T) | |
2 | g.21009330C= | CA2493476193 | APOB | c.7538G= (p.Arg2513=) c.5869+1403G= (n.5869+1403G=) | |
2 | g.21009330C>G | CA345996936 | APOB | c.7538G>C (p.Arg2513Pro) c.5869+1403G>C (n.5869+1403G>C) | |
2 | g.21009330C>T | CA064490 | APOB | c.7538G>A (p.Arg2513Gln) c.5869+1403G>A (n.5869+1403G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009331G>A | CA064481 | APOB | c.7537C>T (p.Arg2513Ter) c.5869+1402C>T (n.5869+1402C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009331G>C | CA064473 | APOB | c.7537C>G (p.Arg2513Gly) c.5869+1402C>G (n.5869+1402C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009331G= | CA2493476194 | APOB | c.7537C= (p.Arg2513=) c.5869+1402C= (n.5869+1402C=) | |
2 | g.21009331G>T | CA425344999 | APOB | c.7537C>A (p.Arg2513=) c.5869+1402C>A (n.5869+1402C>A) | |
2 | g.21009332G>A | CA425345000 | APOB | c.7536C>T (p.Phe2512=) c.5869+1401C>T (n.5869+1401C>T) | |
2 | g.21009332G>C | CA345996937 | APOB | c.7536C>G (p.Phe2512Leu) c.5869+1401C>G (n.5869+1401C>G) | |
2 | g.21009332G>T | CA345996938 | APOB | c.7536C>A (p.Phe2512Leu) c.5869+1401C>A (n.5869+1401C>A) | |
2 | g.21009333A>C | CA345996939 | APOB | c.7535T>G (p.Phe2512Cys) c.5869+1400T>G (n.5869+1400T>G) | |
2 | g.21009333A>G | CA345996940 | APOB | c.7535T>C (p.Phe2512Ser) c.5869+1400T>C (n.5869+1400T>C) | |
2 | g.21009333A>T | CA345996941 | APOB | c.7535T>A (p.Phe2512Tyr) c.5869+1400T>A (n.5869+1400T>A) | |
2 | g.21009334A>C | CA345996942 | APOB | c.7534T>G (p.Phe2512Val) c.5869+1399T>G (n.5869+1399T>G) | |
2 | g.21009334A>G | CA345996943 | APOB | c.7534T>C (p.Phe2512Leu) c.5869+1399T>C (n.5869+1399T>C) | |
2 | g.21009334A>T | CA345996944 | APOB | c.7534T>A (p.Phe2512Ile) c.5869+1399T>A (n.5869+1399T>A) | |
2 | g.21009335T>A | CA345996945 | APOB | c.7533A>T (p.Lys2511Asn) c.5869+1398A>T (n.5869+1398A>T) | |
2 | g.21009335T>C | CA425345002 | APOB | c.7533A>G (p.Lys2511=) c.5869+1398A>G (n.5869+1398A>G) | COSMIC |
2 | g.21009335T>G | CA345996946 | APOB | c.7533A>C (p.Lys2511Asn) c.5869+1398A>C (n.5869+1398A>C) | |
2 | g.21009336T>A | CA345996947 | APOB | c.7532A>T (p.Lys2511Ile) c.5869+1397A>T (n.5869+1397A>T) | |
2 | g.21009336T>C | CA345996948 | APOB | c.7532A>G (p.Lys2511Arg) c.5869+1397A>G (n.5869+1397A>G) | |
2 | g.21009336T>G | CA345996949 | APOB | c.7532A>C (p.Lys2511Thr) c.5869+1397A>C (n.5869+1397A>C) | |
2 | g.21009337T>A | CA345996950 | APOB | c.7531A>T (p.Lys2511Ter) c.5869+1396A>T (n.5869+1396A>T) | |
2 | g.21009337T>C | CA345996952 | APOB | c.7531A>G (p.Lys2511Glu) c.5869+1396A>G (n.5869+1396A>G) | |
2 | g.21009337T>G | CA345996951 | APOB | c.7531A>C (p.Lys2511Gln) c.5869+1396A>C (n.5869+1396A>C) | |
2 | g.21009338G>A | CA425345006 | APOB | c.7530C>T (p.Ala2510=) c.5869+1395C>T (n.5869+1395C>T) | |
2 | g.21009338G>C | CA425345007 | APOB | c.7530C>G (p.Ala2510=) c.5869+1395C>G (n.5869+1395C>G) | |
2 | g.21009338G>T | CA425345008 | APOB | c.7530C>A (p.Ala2510=) c.5869+1395C>A (n.5869+1395C>A) | |
2 | g.21009339G>A | CA345996953 | APOB | c.7529C>T (p.Ala2510Val) c.5869+1394C>T (n.5869+1394C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009339G>C | CA345996954 | APOB | c.7529C>G (p.Ala2510Gly) c.5869+1394C>G (n.5869+1394C>G) | |
2 | g.21009339G= | CA2493476195 | APOB | c.7529C= (p.Ala2510=) c.5869+1394C= (n.5869+1394C=) | |
2 | g.21009339G>T | CA345996955 | APOB | c.7529C>A (p.Ala2510Asp) c.5869+1394C>A (n.5869+1394C>A) | |
2 | g.21009340C>A | CA345996956 | APOB | c.7528G>T (p.Ala2510Ser) c.5869+1393G>T (n.5869+1393G>T) | |
2 | g.21009340C>G | CA345996957 | APOB | c.7528G>C (p.Ala2510Pro) c.5869+1393G>C (n.5869+1393G>C) | |
2 | g.21009340C>T | CA345996958 | APOB | c.7528G>A (p.Ala2510Thr) c.5869+1393G>A (n.5869+1393G>A) | gnomAD v4 |
2 | g.21009341_21009342insGCAGTGTGGTGCGCGAAATGAACCGCGTCGGCATGATGGTCGACC | CA2540602855 | APOB | c.7528_7529insTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCACACTGCGG (p.Lys2509_Ala2510insValAspHisHisAlaAspAlaValHisPheAlaHisHisThrAla) c.5869+1393_5869+1394insTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCACACTGCGG (n.5869+1393_5869+1394insTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCACACTGCGG) | |
2 | g.21009341_21009344dup | CA2658056029 | APOB | c.7525_7528dup (p.Ala2510GlufsTer?) c.5869+1390_5869+1393dup (n.5869+1390_5869+1393dup) | gnomAD v4 |
2 | g.21009341C>A | CA345996960 | APOB | c.7527G>T (p.Lys2509Asn) c.5869+1392G>T (n.5869+1392G>T) | |
2 | g.21009341C>G | CA345996959 | APOB | c.7527G>C (p.Lys2509Asn) c.5869+1392G>C (n.5869+1392G>C) | |
2 | g.21009341C>T | CA425345013 | APOB | c.7527G>A (p.Lys2509=) c.5869+1392G>A (n.5869+1392G>A) | |
2 | g.21009341_21009342insGCAG | CA2568708330 | APOB | c.7526_7527insCTGC (p.Lys2509AsnfsTer?) c.5869+1391_5869+1392insCTGC (n.5869+1391_5869+1392insCTGC) | |
2 | g.21009342T>A | CA345996961 | APOB | c.7526A>T (p.Lys2509Met) c.5869+1391A>T (n.5869+1391A>T) | |
2 | g.21009342T>C | CA345996962 | APOB | c.7526A>G (p.Lys2509Arg) c.5869+1391A>G (n.5869+1391A>G) | |
2 | g.21009342T>G | CA345996963 | APOB | c.7526A>C (p.Lys2509Thr) c.5869+1391A>C (n.5869+1391A>C) | |
2 | g.21009342_21009343insGTGGTGCGCGAAATGAACCGCGTCGGCATGATGGTCGACCTTTCGCACGGCGCCGAGACGAGTTTCTACGACGTCCTCGAGGTTTCTGCGCTGCCCATTGTGTGCAGCCAC | CA2556779076 | APOB | c.7525_7526insGTGGCTGCACACAATGGGCAGCGCAGAAACCTCGAGGACGTCGTAGAAACTCGTCTCGGCGCCGTGCGAAAGGTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCAC (p.Lys2509delinsSerGlyCysThrGlnTrpAlaAlaGlnLysProArgGlyArgArgArgAsnSerSerArgArgArgAlaLysGlyArgProSerCysArgArgGlySerPheArgAlaProGln) c.5869+1390_5869+1391insGTGGCTGCACACAATGGGCAGCGCAGAAACCTCGAGGACGTCGTAGAAACTCGTCTCGGCGCCGTGCGAAAGGTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCAC (n.5869+1390_5869+1391insGTGGCTGCACACAATGGGCAGCGCAGAAACCTCGAGGACGTCGTAGAAACTCGTCTCGGCGCCGTGCGAAAGGTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCAC) | |
2 | g.21009343T>A | CA345996964 | APOB | c.7525A>T (p.Lys2509Ter) c.5869+1390A>T (n.5869+1390A>T) | |
2 | g.21009343T>C | CA345996965 | APOB | c.7525A>G (p.Lys2509Glu) c.5869+1390A>G (n.5869+1390A>G) | |
2 | g.21009343T>G | CA345996966 | APOB | c.7525A>C (p.Lys2509Gln) c.5869+1390A>C (n.5869+1390A>C) | |
2 | g.21009343_21009344insTCGCACGGCGCCGAGACGAGTTTCTACGACGCCCTCGAGGTTTCTGCGCTG | CA2556349413 | APOB | c.7524_7525insCAGCGCAGAAACCTCGAGGGCGTCGTAGAAACTCGTCTCGGCGCCGTGCGA (p.Met2508_Lys2509insGlnArgArgAsnLeuGluGlyValValGluThrArgLeuGlyAlaValArg) c.5869+1389_5869+1390insCAGCGCAGAAACCTCGAGGGCGTCGTAGAAACTCGTCTCGGCGCCGTGCGA (n.5869+1389_5869+1390insCAGCGCAGAAACCTCGAGGGCGTCGTAGAAACTCGTCTCGGCGCCGTGCGA) | |
2 | g.21009344C>A | CA345996967 | APOB | c.7524G>T (p.Met2508Ile) c.5869+1389G>T (n.5869+1389G>T) | |
2 | g.21009344C>G | CA345996969 | APOB | c.7524G>C (p.Met2508Ile) c.5869+1389G>C (n.5869+1389G>C) | |
2 | g.21009344C>T | CA345996968 | APOB | c.7524G>A (p.Met2508Ile) c.5869+1389G>A (n.5869+1389G>A) | |
2 | g.21009345A= | CA2493476196 | APOB | c.7523T= (p.Met2508=) c.5869+1388T= (n.5869+1388T=) | |
2 | g.21009345A>C | CA345996970 | APOB | c.7523T>G (p.Met2508Arg) c.5869+1388T>G (n.5869+1388T>G) | |
2 | g.21009345A>G | CA345996971 | APOB | c.7523T>C (p.Met2508Thr) c.5869+1388T>C (n.5869+1388T>C) | dbSNP |
2 | g.21009345A>T | CA345996972 | APOB | c.7523T>A (p.Met2508Lys) c.5869+1388T>A (n.5869+1388T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009346T>A | CA345996973 | APOB | c.7522A>T (p.Met2508Leu) c.5869+1387A>T (n.5869+1387A>T) | |
2 | g.21009346T>C | CA345996974 | APOB | c.7522A>G (p.Met2508Val) c.5869+1387A>G (n.5869+1387A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009346T>G | CA345996975 | APOB | c.7522A>C (p.Met2508Leu) c.5869+1387A>C (n.5869+1387A>C) | |
2 | g.21009346T= | CA2493476197 | APOB | c.7522A= (p.Met2508=) c.5869+1387A= (n.5869+1387A=) | |
2 | g.21009347G>A | CA425345021 | APOB | c.7521C>T (p.His2507=) c.5869+1386C>T (n.5869+1386C>T) | |
2 | g.21009347G>C | CA345996976 | APOB | c.7521C>G (p.His2507Gln) c.5869+1386C>G (n.5869+1386C>G) | |
2 | g.21009347G>T | CA345996977 | APOB | c.7521C>A (p.His2507Gln) c.5869+1386C>A (n.5869+1386C>A) | |
2 | g.21009348T>A | CA345996978 | APOB | c.7520A>T (p.His2507Leu) c.5869+1385A>T (n.5869+1385A>T) | |
2 | g.21009348T>C | CA064468 | APOB | c.7520A>G (p.His2507Arg) c.5869+1385A>G (n.5869+1385A>G) | ClinVar dbSNP ExAC |
2 | g.21009348T>G | CA064464 | APOB | c.7520A>C (p.His2507Pro) c.5869+1385A>C (n.5869+1385A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009348T= | CA2493476198 | APOB | c.7520A= (p.His2507=) c.5869+1385A= (n.5869+1385A=) | |
2 | g.21009349G>A | CA345996979 | APOB | c.7519C>T (p.His2507Tyr) c.5869+1384C>T (n.5869+1384C>T) | gnomAD v4 |
2 | g.21009349G>C | CA345996981 | APOB | c.7519C>G (p.His2507Asp) c.5869+1384C>G (n.5869+1384C>G) | |
2 | g.21009349G>T | CA345996980 | APOB | c.7519C>A (p.His2507Asn) c.5869+1384C>A (n.5869+1384C>A) | |
2 | g.21009350A>C | CA425345023 | APOB | c.7518T>G (p.Ala2506=) c.5869+1383T>G (n.5869+1383T>G) | |
2 | g.21009350A>G | CA425345024 | APOB | c.7518T>C (p.Ala2506=) c.5869+1383T>C (n.5869+1383T>C) | |
2 | g.21009350A>T | CA425345025 | APOB | c.7518T>A (p.Ala2506=) c.5869+1383T>A (n.5869+1383T>A) | |
2 | g.21009351G>A | CA064456 | APOB | c.7517C>T (p.Ala2506Val) c.5869+1382C>T (n.5869+1382C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009351G>C | CA345996983 | APOB | c.7517C>G (p.Ala2506Gly) c.5869+1382C>G (n.5869+1382C>G) | |
2 | g.21009351G= | CA2493476199 | APOB | c.7517C= (p.Ala2506=) c.5869+1382C= (n.5869+1382C=) | |
2 | g.21009351G>T | CA345996982 | APOB | c.7517C>A (p.Ala2506Asp) c.5869+1382C>A (n.5869+1382C>A) | |
2 | g.21009352C>A | CA345996984 | APOB | c.7516G>T (p.Ala2506Ser) c.5869+1381G>T (n.5869+1381G>T) | |
2 | g.21009352C>G | CA345996985 | APOB | c.7516G>C (p.Ala2506Pro) c.5869+1381G>C (n.5869+1381G>C) | |
2 | g.21009352C>T | CA345996986 | APOB | c.7516G>A (p.Ala2506Thr) c.5869+1381G>A (n.5869+1381G>A) | |
2 | g.21009353C>A | CA345996987 | APOB | c.7515G>T (p.Leu2505Phe) c.5869+1380G>T (n.5869+1380G>T) | |
2 | g.21009353C>G | CA345996988 | APOB | c.7515G>C (p.Leu2505Phe) c.5869+1380G>C (n.5869+1380G>C) | gnomAD v4 |
2 | g.21009353C>T | CA425345028 | APOB | c.7515G>A (p.Leu2505=) c.5869+1380G>A (n.5869+1380G>A) | |
2 | g.21009354A>C | CA345996989 | APOB | c.7514T>G (p.Leu2505Trp) c.5869+1379T>G (n.5869+1379T>G) | |
2 | g.21009354A>G | CA345996990 | APOB | c.7514T>C (p.Leu2505Ser) c.5869+1379T>C (n.5869+1379T>C) | |
2 | g.21009354A>T | CA345996991 | APOB | c.7514T>A (p.Leu2505Ter) c.5869+1379T>A (n.5869+1379T>A) | |
2 | g.21009355A>C | CA345996992 | APOB | c.7513T>G (p.Leu2505Val) c.5869+1378T>G (n.5869+1378T>G) | |
2 | g.21009355A>G | CA425345034 | APOB | c.7513T>C (p.Leu2505=) c.5869+1378T>C (n.5869+1378T>C) | |
2 | g.21009355A>T | CA345996993 | APOB | c.7513T>A (p.Leu2505Met) c.5869+1378T>A (n.5869+1378T>A) | |
2 | g.21009356A>C | CA425345036 | APOB | c.7512T>G (p.Ser2504=) c.5869+1377T>G (n.5869+1377T>G) | |
2 | g.21009356A>G | CA425345037 | APOB | c.7512T>C (p.Ser2504=) c.5869+1377T>C (n.5869+1377T>C) | |
2 | g.21009356A>T | CA425345038 | APOB | c.7512T>A (p.Ser2504=) c.5869+1377T>A (n.5869+1377T>A) | |
2 | g.21009357G>A | CA345996994 | APOB | c.7511C>T (p.Ser2504Phe) c.5869+1376C>T (n.5869+1376C>T) | ClinVar gnomAD v4 |
2 | g.21009357G>C | CA345996995 | APOB | c.7511C>G (p.Ser2504Cys) c.5869+1376C>G (n.5869+1376C>G) | |
2 | g.21009357G>T | CA345996996 | APOB | c.7511C>A (p.Ser2504Tyr) c.5869+1376C>A (n.5869+1376C>A) | COSMIC |
2 | g.21009358A= | CA2493476200 | APOB | c.7510T= (p.Ser2504=) c.5869+1375T= (n.5869+1375T=) | |
2 | g.21009358A>C | CA345996999 | APOB | c.7510T>G (p.Ser2504Ala) c.5869+1375T>G (n.5869+1375T>G) | |
2 | g.21009358A>G | CA345996997 | APOB | c.7510T>C (p.Ser2504Pro) c.5869+1375T>C (n.5869+1375T>C) | |
2 | g.21009358A>T | CA345996998 | APOB | c.7510T>A (p.Ser2504Thr) c.5869+1375T>A (n.5869+1375T>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21009359T>A | CA425345041 | APOB | c.7509A>T (p.Ala2503=) c.5869+1374A>T (n.5869+1374A>T) | |
2 | g.21009359T>C | CA425345042 | APOB | c.7509A>G (p.Ala2503=) c.5869+1374A>G (n.5869+1374A>G) | |
2 | g.21009359T>G | CA425345043 | APOB | c.7509A>C (p.Ala2503=) c.5869+1374A>C (n.5869+1374A>C) | dbSNP |
2 | g.21009359T= | CA2493476201 | APOB | c.7509A= (p.Ala2503=) c.5869+1374A= (n.5869+1374A=) |