Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010432_21010455del | CA2547988098 | APOB | c.6414_6437del (p.Lys2139_Thr2146del) c.5869+279_5869+302del (n.5869+279_5869+302del) | |
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.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) | |
2 | g.21010474C>A | CA346001852 | APOB | c.6394G>T (p.Glu2132Ter) c.5869+259G>T (n.5869+259G>T) | |
2 | g.21010474C>G | CA346001853 | APOB | c.6394G>C (p.Glu2132Gln) c.5869+259G>C (n.5869+259G>C) | |
2 | g.21010474C>T | CA346001854 | APOB | c.6394G>A (p.Glu2132Lys) c.5869+259G>A (n.5869+259G>A) | gnomAD v4 |
2 | g.21010475C>A | CA346001855 | APOB | c.6393G>T (p.Trp2131Cys) c.5869+258G>T (n.5869+258G>T) | gnomAD v4 |
2 | g.21010475C>G | CA346001857 | APOB | c.6393G>C (p.Trp2131Cys) c.5869+258G>C (n.5869+258G>C) | |
2 | g.21010475C>T | CA346001856 | APOB | c.6393G>A (p.Trp2131Ter) c.5869+258G>A (n.5869+258G>A) | |
2 | g.21010476C>A | CA346001858 | APOB | c.6392G>T (p.Trp2131Leu) c.5869+257G>T (n.5869+257G>T) | gnomAD v4 |
2 | g.21010476C>G | CA346001859 | APOB | c.6392G>C (p.Trp2131Ser) c.5869+257G>C (n.5869+257G>C) | |
2 | g.21010476C>T | CA346001860 | APOB | c.6392G>A (p.Trp2131Ter) c.5869+257G>A (n.5869+257G>A) | |
2 | g.21010477A>C | CA346001861 | APOB | c.6391T>G (p.Trp2131Gly) c.5869+256T>G (n.5869+256T>G) | |
2 | g.21010477A>G | CA346001862 | APOB | c.6391T>C (p.Trp2131Arg) c.5869+256T>C (n.5869+256T>C) | |
2 | g.21010477A>T | CA346001863 | APOB | c.6391T>A (p.Trp2131Arg) c.5869+256T>A (n.5869+256T>A) | |
2 | g.21010478A= | CA2493476717 | APOB | c.6390T= (p.Asn2130=) c.5869+255T= (n.5869+255T=) | |
2 | g.21010478A>C | CA346001864 | APOB | c.6390T>G (p.Asn2130Lys) c.5869+255T>G (n.5869+255T>G) | |
2 | g.21010478A>G | CA063152 | APOB | c.6390T>C (p.Asn2130=) c.5869+255T>C (n.5869+255T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010478A>T | CA346001865 | APOB | c.6390T>A (p.Asn2130Lys) c.5869+255T>A (n.5869+255T>A) | |
2 | g.21010479T>A | CA346001866 | APOB | c.6389A>T (p.Asn2130Ile) c.5869+254A>T (n.5869+254A>T) | |
2 | g.21010479T>C | CA346001867 | APOB | c.6389A>G (p.Asn2130Ser) c.5869+254A>G (n.5869+254A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010479T>G | CA346001868 | APOB | c.6389A>C (p.Asn2130Thr) c.5869+254A>C (n.5869+254A>C) | dbSNP |
2 | g.21010479T= | CA2493476718 | APOB | c.6389A= (p.Asn2130=) c.5869+254A= (n.5869+254A=) | |
2 | g.21010480T>A | CA346001871 | APOB | c.6388A>T (p.Asn2130Tyr) c.5869+253A>T (n.5869+253A>T) | |
2 | g.21010480T>C | CA346001869 | APOB | c.6388A>G (p.Asn2130Asp) c.5869+253A>G (n.5869+253A>G) | |
2 | g.21010480T>G | CA346001870 | APOB | c.6388A>C (p.Asn2130His) c.5869+253A>C (n.5869+253A>C) | |
2 | g.21010481G>A | CA425346011 | APOB | c.6387C>T (p.Phe2129=) c.5869+252C>T (n.5869+252C>T) | gnomAD v4 |
2 | g.21010481G>C | CA346001872 | APOB | c.6387C>G (p.Phe2129Leu) c.5869+252C>G (n.5869+252C>G) | |
2 | g.21010481G>T | CA346001873 | APOB | c.6387C>A (p.Phe2129Leu) c.5869+252C>A (n.5869+252C>A) | |
2 | g.21010482A>C | CA346001874 | APOB | c.6386T>G (p.Phe2129Cys) c.5869+251T>G (n.5869+251T>G) | |
2 | g.21010482A>G | CA346001875 | APOB | c.6386T>C (p.Phe2129Ser) c.5869+251T>C (n.5869+251T>C) | |
2 | g.21010482A>T | CA346001876 | APOB | c.6386T>A (p.Phe2129Tyr) c.5869+251T>A (n.5869+251T>A) | |
2 | g.21010483A>C | CA346001877 | APOB | c.6385T>G (p.Phe2129Val) c.5869+250T>G (n.5869+250T>G) | |
2 | g.21010483A>G | CA346001878 | APOB | c.6385T>C (p.Phe2129Leu) c.5869+250T>C (n.5869+250T>C) | |
2 | g.21010483A>T | CA346001879 | APOB | c.6385T>A (p.Phe2129Ile) c.5869+250T>A (n.5869+250T>A) | |
2 | g.21010484T>A | CA425346015 | APOB | c.6384A>T (p.Ser2128=) c.5869+249A>T (n.5869+249A>T) | |
2 | g.21010484T>C | CA425346019 | APOB | c.6384A>G (p.Ser2128=) c.5869+249A>G (n.5869+249A>G) | ClinVar COSMIC |
2 | g.21010484T>G | CA425346016 | APOB | c.6384A>C (p.Ser2128=) c.5869+249A>C (n.5869+249A>C) | |
2 | g.21010485G>A | CA346001880 | APOB | c.6383C>T (p.Ser2128Leu) c.5869+248C>T (n.5869+248C>T) | |
2 | g.21010485G>C | CA346001881 | APOB | c.6383C>G (p.Ser2128Ter) c.5869+248C>G (n.5869+248C>G) | |
2 | g.21010485G= | CA2493476719 | APOB | c.6383C= (p.Ser2128=) c.5869+248C= (n.5869+248C=) | |
2 | g.21010485G>T | CA346001882 | APOB | c.6383C>A (p.Ser2128Ter) c.5869+248C>A (n.5869+248C>A) | dbSNP |
2 | g.21010486A>C | CA346001884 | APOB | c.6382T>G (p.Ser2128Ala) c.5869+247T>G (n.5869+247T>G) | |
2 | g.21010486A>G | CA346001885 | APOB | c.6382T>C (p.Ser2128Pro) c.5869+247T>C (n.5869+247T>C) | |
2 | g.21010486A>T | CA346001883 | APOB | c.6382T>A (p.Ser2128Thr) c.5869+247T>A (n.5869+247T>A) | |
2 | g.21010487A>C | CA346001887 | APOB | c.6381T>G (p.Asn2127Lys) c.5869+246T>G (n.5869+246T>G) | |
2 | g.21010487A>G | CA425346028 | APOB | c.6381T>C (p.Asn2127=) c.5869+246T>C (n.5869+246T>C) | |
2 | g.21010487A>T | CA346001886 | APOB | c.6381T>A (p.Asn2127Lys) c.5869+246T>A (n.5869+246T>A) | |
2 | g.21010488T>A | CA346001890 | APOB | c.6380A>T (p.Asn2127Ile) c.5869+245A>T (n.5869+245A>T) | |
2 | g.21010488T>C | CA346001888 | APOB | c.6380A>G (p.Asn2127Ser) c.5869+245A>G (n.5869+245A>G) | |
2 | g.21010488T>G | CA346001889 | APOB | c.6380A>C (p.Asn2127Thr) c.5869+245A>C (n.5869+245A>C) | gnomAD v4 |
2 | g.21010489T>A | CA346001891 | APOB | c.6379A>T (p.Asn2127Tyr) c.5869+244A>T (n.5869+244A>T) | |
2 | g.21010489T>C | CA346001892 | APOB | c.6379A>G (p.Asn2127Asp) c.5869+244A>G (n.5869+244A>G) | |
2 | g.21010489T>G | CA346001893 | APOB | c.6379A>C (p.Asn2127His) c.5869+244A>C (n.5869+244A>C) | |
2 | g.21010490C>A | CA425346033 | APOB | c.6378G>T (p.Leu2126=) c.5869+243G>T (n.5869+243G>T) | dbSNP |
2 | g.21010490C= | CA2493476720 | APOB | c.6378G= (p.Leu2126=) c.5869+243G= (n.5869+243G=) | |
2 | g.21010490C>G | CA425346034 | APOB | c.6378G>C (p.Leu2126=) c.5869+243G>C (n.5869+243G>C) | dbSNP |
2 | g.21010490C>T | CA425346036 | APOB | c.6378G>A (p.Leu2126=) c.5869+243G>A (n.5869+243G>A) | |
2 | g.21010491A= | CA2493476721 | APOB | c.6377T= (p.Leu2126=) c.5869+242T= (n.5869+242T=) | |
2 | g.21010491A>C | CA346001894 | APOB | c.6377T>G (p.Leu2126Arg) c.5869+242T>G (n.5869+242T>G) | |
2 | g.21010491A>G | CA063141 | APOB | c.6377T>C (p.Leu2126Pro) c.5869+242T>C (n.5869+242T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010491A>T | CA346001895 | APOB | c.6377T>A (p.Leu2126Gln) c.5869+242T>A (n.5869+242T>A) | COSMIC |
2 | g.21010492G>A | CA425346039 | APOB | c.6376C>T (p.Leu2126=) c.5869+241C>T (n.5869+241C>T) | |
2 | g.21010492G>C | CA346001896 | APOB | c.6376C>G (p.Leu2126Val) c.5869+241C>G (n.5869+241C>G) | |
2 | g.21010492G>T | CA346001897 | APOB | c.6376C>A (p.Leu2126Met) c.5869+241C>A (n.5869+241C>A) | |
2 | g.21010493A>C | CA346001898 | APOB | c.6375T>G (p.Tyr2125Ter) c.5869+240T>G (n.5869+240T>G) | |
2 | g.21010493A>G | CA425346042 | APOB | c.6375T>C (p.Tyr2125=) c.5869+240T>C (n.5869+240T>C) | gnomAD v4 |
2 | g.21010493A>T | CA346001899 | APOB | c.6375T>A (p.Tyr2125Ter) c.5869+240T>A (n.5869+240T>A) | |
2 | g.21010494T>A | CA346001902 | APOB | c.6374A>T (p.Tyr2125Phe) c.5869+239A>T (n.5869+239A>T) | |
2 | g.21010494T>C | CA346001900 | APOB | c.6374A>G (p.Tyr2125Cys) c.5869+239A>G (n.5869+239A>G) | |
2 | g.21010494T>G | CA346001901 | APOB | c.6374A>C (p.Tyr2125Ser) c.5869+239A>C (n.5869+239A>C) | |
2 | g.21010495A= | CA2493476722 | APOB | c.6373T= (p.Tyr2125=) c.5869+238T= (n.5869+238T=) | |
2 | g.21010495A>C | CA346001903 | APOB | c.6373T>G (p.Tyr2125Asp) c.5869+238T>G (n.5869+238T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010495A>G | CA346001904 | APOB | c.6373T>C (p.Tyr2125His) c.5869+238T>C (n.5869+238T>C) | dbSNP |
2 | g.21010495A>T | CA346001905 | APOB | c.6373T>A (p.Tyr2125Asn) c.5869+238T>A (n.5869+238T>A) | |
2 | g.21010496A>C | CA346001906 | APOB | c.6372T>G (p.Asp2124Glu) c.5869+237T>G (n.5869+237T>G) | COSMIC |
2 | g.21010496A>G | CA425346050 | APOB | c.6372T>C (p.Asp2124=) c.5869+237T>C (n.5869+237T>C) | |
2 | g.21010496A>T | CA346001907 | APOB | c.6372T>A (p.Asp2124Glu) c.5869+237T>A (n.5869+237T>A) | |
2 | g.21010497T>A | CA346001908 | APOB | c.6371A>T (p.Asp2124Val) c.5869+236A>T (n.5869+236A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010497T>C | CA063133 | APOB | c.6371A>G (p.Asp2124Gly) c.5869+236A>G (n.5869+236A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010497T>G | CA346001909 | APOB | c.6371A>C (p.Asp2124Ala) c.5869+236A>C (n.5869+236A>C) | |
2 | g.21010497T= | CA2493476723 | APOB | c.6371A= (p.Asp2124=) c.5869+236A= (n.5869+236A=) | |
2 | g.21010498C>A | CA346001910 | APOB | c.6370G>T (p.Asp2124Tyr) c.5869+235G>T (n.5869+235G>T) | dbSNP |
2 | g.21010498C= | CA2493476724 | APOB | c.6370G= (p.Asp2124=) c.5869+235G= (n.5869+235G=) | |
2 | g.21010498C>G | CA346001911 | APOB | c.6370G>C (p.Asp2124His) c.5869+235G>C (n.5869+235G>C) | |
2 | g.21010498C>T | CA346001912 | APOB | c.6370G>A (p.Asp2124Asn) c.5869+235G>A (n.5869+235G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010499A>C | CA346001914 | APOB | c.6369T>G (p.Asn2123Lys) c.5869+234T>G (n.5869+234T>G) | gnomAD v4 |
2 | g.21010499A>G | CA425346055 | APOB | c.6369T>C (p.Asn2123=) c.5869+234T>C (n.5869+234T>C) | |
2 | g.21010499A>T | CA346001913 | APOB | c.6369T>A (p.Asn2123Lys) c.5869+234T>A (n.5869+234T>A) | |
2 | g.21010500T>A | CA346001915 | APOB | c.6368A>T (p.Asn2123Ile) c.5869+233A>T (n.5869+233A>T) | |
2 | g.21010500T>C | CA346001916 | APOB | c.6368A>G (p.Asn2123Ser) c.5869+233A>G (n.5869+233A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.21010500T>G | CA346001917 | APOB | c.6368A>C (p.Asn2123Thr) c.5869+233A>C (n.5869+233A>C) | |
2 | g.21010500T= | CA2493476725 | APOB | c.6368A= (p.Asn2123=) c.5869+233A= (n.5869+233A=) | |
2 | g.21010501T>A | CA346001918 | APOB | c.6367A>T (p.Asn2123Tyr) c.5869+232A>T (n.5869+232A>T) | |
2 | g.21010501T>C | CA346001919 | APOB | c.6367A>G (p.Asn2123Asp) c.5869+232A>G (n.5869+232A>G) | |
2 | g.21010501T>G | CA346001920 | APOB | c.6367A>C (p.Asn2123His) c.5869+232A>C (n.5869+232A>C) | |
2 | g.21010502A= | CA2493476726 | APOB | c.6366T= (p.Ala2122=) c.5869+231T= (n.5869+231T=) | |
2 | g.21010502A>C | CA425346063 | APOB | c.6366T>G (p.Ala2122=) c.5869+231T>G (n.5869+231T>G) | |
2 | g.21010502A>G | CA425346064 | APOB | c.6366T>C (p.Ala2122=) c.5869+231T>C (n.5869+231T>C) | ClinVar gnomAD v4 |
2 | g.21010502A>T | CA425346067 | APOB | c.6366T>A (p.Ala2122=) c.5869+231T>A (n.5869+231T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010503G>A | CA346001922 | APOB | c.6365C>T (p.Ala2122Val) c.5869+230C>T (n.5869+230C>T) | ClinVar gnomAD v4 |
2 | g.21010503G>C | CA346001921 | APOB | c.6365C>G (p.Ala2122Gly) c.5869+230C>G (n.5869+230C>G) | |
2 | g.21010503G= | CA2493476727 | APOB | c.6365C= (p.Ala2122=) c.5869+230C= (n.5869+230C=) | |
2 | g.21010503G>T | CA43505446 | APOB | c.6365C>A (p.Ala2122Asp) c.5869+230C>A (n.5869+230C>A) | dbSNP COSMIC |
2 | g.21010504C>A | CA346001923 | APOB | c.6364G>T (p.Ala2122Ser) c.5869+229G>T (n.5869+229G>T) | |
2 | g.21010504C>G | CA346001924 | APOB | c.6364G>C (p.Ala2122Pro) c.5869+229G>C (n.5869+229G>C) | |
2 | g.21010504C>T | CA346001925 | APOB | c.6364G>A (p.Ala2122Thr) c.5869+229G>A (n.5869+229G>A) | |
2 | g.21010505T>A | CA346001926 | APOB | c.6363A>T (p.Gln2121His) c.5869+228A>T (n.5869+228A>T) | |
2 | g.21010505T>C | CA425346074 | APOB | c.6363A>G (p.Gln2121=) c.5869+228A>G (n.5869+228A>G) | |
2 | g.21010505T>G | CA346001927 | APOB | c.6363A>C (p.Gln2121His) c.5869+228A>C (n.5869+228A>C) | |
2 | g.21010506T>A | CA346001928 | APOB | c.6362A>T (p.Gln2121Leu) c.5869+227A>T (n.5869+227A>T) | |
2 | g.21010506T>C | CA346001930 | APOB | c.6362A>G (p.Gln2121Arg) c.5869+227A>G (n.5869+227A>G) | |
2 | g.21010506T>G | CA346001929 | APOB | c.6362A>C (p.Gln2121Pro) c.5869+227A>C (n.5869+227A>C) | |
2 | g.21010507G>A | CA346001931 | APOB | c.6361C>T (p.Gln2121Ter) c.5869+226C>T (n.5869+226C>T) | |
2 | g.21010507G>C | CA346001932 | APOB | c.6361C>G (p.Gln2121Glu) c.5869+226C>G (n.5869+226C>G) | |
2 | g.21010507G>T | CA346001933 | APOB | c.6361C>A (p.Gln2121Lys) c.5869+226C>A (n.5869+226C>A) | gnomAD v4 |
2 | g.21010508C>A | CA346001934 | APOB | c.6360G>T (p.Gln2120His) c.5869+225G>T (n.5869+225G>T) | |
2 | g.21010508C>G | CA346001935 | APOB | c.6360G>C (p.Gln2120His) c.5869+225G>C (n.5869+225G>C) | |
2 | g.21010508C>T | CA425346079 | APOB | c.6360G>A (p.Gln2120=) c.5869+225G>A (n.5869+225G>A) | ClinVar |
2 | g.21010509T>A | CA346001936 | APOB | c.6359A>T (p.Gln2120Leu) c.5869+224A>T (n.5869+224A>T) | |
2 | g.21010509T>C | CA346001937 | APOB | c.6359A>G (p.Gln2120Arg) c.5869+224A>G (n.5869+224A>G) | |
2 | g.21010509T>G | CA346001938 | APOB | c.6359A>C (p.Gln2120Pro) c.5869+224A>C (n.5869+224A>C) | |
2 | g.21010510G>A | CA346001939 | APOB | c.6358C>T (p.Gln2120Ter) c.5869+223C>T (n.5869+223C>T) | gnomAD v4 |
2 | g.21010510G>C | CA346001940 | APOB | c.6358C>G (p.Gln2120Glu) c.5869+223C>G (n.5869+223C>G) | |
2 | g.21010510G>T | CA346001941 | APOB | c.6358C>A (p.Gln2120Lys) c.5869+223C>A (n.5869+223C>A) | COSMIC |
2 | g.21010511T>A | CA425346086 | APOB | c.6357A>T (p.Pro2119=) c.5869+222A>T (n.5869+222A>T) | |
2 | g.21010511T>C | CA425346088 | APOB | c.6357A>G (p.Pro2119=) c.5869+222A>G (n.5869+222A>G) | dbSNP gnomAD v4 |
2 | g.21010511T>G | CA425346089 | APOB | c.6357A>C (p.Pro2119=) c.5869+222A>C (n.5869+222A>C) | |
2 | g.21010511T= | CA2493476728 | APOB | c.6357A= (p.Pro2119=) c.5869+222A= (n.5869+222A=) | |
2 | g.21010512G>A | CA43505448 | APOB | c.6356C>T (p.Pro2119Leu) c.5869+221C>T (n.5869+221C>T) | dbSNP |
2 | g.21010512G>C | CA346001943 | APOB | c.6356C>G (p.Pro2119Arg) c.5869+221C>G (n.5869+221C>G) | |
2 | g.21010512G= | CA2493476729 | APOB | c.6356C= (p.Pro2119=) c.5869+221C= (n.5869+221C=) | |
2 | g.21010512G>T | CA346001942 | APOB | c.6356C>A (p.Pro2119Gln) c.5869+221C>A (n.5869+221C>A) | |
2 | g.21010513G>A | CA346001944 | APOB | c.6355C>T (p.Pro2119Ser) c.5869+220C>T (n.5869+220C>T) | |
2 | g.21010513G>C | CA346001945 | APOB | c.6355C>G (p.Pro2119Ala) c.5869+220C>G (n.5869+220C>G) | |
2 | g.21010513G>T | CA346001946 | APOB | c.6355C>A (p.Pro2119Thr) c.5869+220C>A (n.5869+220C>A) | |
2 | g.21010514G>A | CA425346094 | APOB | c.6354C>T (p.Leu2118=) c.5869+219C>T (n.5869+219C>T) | gnomAD v4 |
2 | g.21010514G>C | CA425346096 | APOB | c.6354C>G (p.Leu2118=) c.5869+219C>G (n.5869+219C>G) | |
2 | g.21010514G>T | CA425346092 | APOB | c.6354C>A (p.Leu2118=) c.5869+219C>A (n.5869+219C>A) | |
2 | g.21010515A>C | CA346001947 | APOB | c.6353T>G (p.Leu2118Arg) c.5869+218T>G (n.5869+218T>G) | |
2 | g.21010515A>G | CA346001948 | APOB | c.6353T>C (p.Leu2118Pro) c.5869+218T>C (n.5869+218T>C) | |
2 | g.21010515A>T | CA346001949 | APOB | c.6353T>A (p.Leu2118His) c.5869+218T>A (n.5869+218T>A) | |
2 | g.21010516G>A | CA346001952 | APOB | c.6352C>T (p.Leu2118Phe) c.5869+217C>T (n.5869+217C>T) | |
2 | g.21010516G>C | CA346001950 | APOB | c.6352C>G (p.Leu2118Val) c.5869+217C>G (n.5869+217C>G) | |
2 | g.21010516G>T | CA346001951 | APOB | c.6352C>A (p.Leu2118Ile) c.5869+217C>A (n.5869+217C>A) | |
2 | g.21010517T>A | CA346001953 | APOB | c.6351A>T (p.Lys2117Asn) c.5869+216A>T (n.5869+216A>T) | gnomAD v4 |
2 | g.21010517T>C | CA425346105 | APOB | c.6351A>G (p.Lys2117=) c.5869+216A>G (n.5869+216A>G) | |
2 | g.21010517T>G | CA346001954 | APOB | c.6351A>C (p.Lys2117Asn) c.5869+216A>C (n.5869+216A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010517T= | CA2493476730 | APOB | c.6351A= (p.Lys2117=) c.5869+216A= (n.5869+216A=) | |
2 | g.21010518T>A | CA346001955 | APOB | c.6350A>T (p.Lys2117Ile) c.5869+215A>T (n.5869+215A>T) | |
2 | g.21010518T>C | CA346001956 | APOB | c.6350A>G (p.Lys2117Arg) c.5869+215A>G (n.5869+215A>G) | |
2 | g.21010518T>G | CA346001957 | APOB | c.6350A>C (p.Lys2117Thr) c.5869+215A>C (n.5869+215A>C) | |
2 | g.21010519T>A | CA346001960 | APOB | c.6349A>T (p.Lys2117Ter) c.5869+214A>T (n.5869+214A>T) | |
2 | g.21010519T>C | CA346001958 | APOB | c.6349A>G (p.Lys2117Glu) c.5869+214A>G (n.5869+214A>G) | gnomAD v4 |
2 | g.21010519T>G | CA346001959 | APOB | c.6349A>C (p.Lys2117Gln) c.5869+214A>C (n.5869+214A>C) | |
2 | g.21010520T>A | CA425346111 | APOB | c.6348A>T (p.Gly2116=) c.5869+213A>T (n.5869+213A>T) | |
2 | g.21010520T>C | CA063129 | APOB | c.6348A>G (p.Gly2116=) c.5869+213A>G (n.5869+213A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010520T>G | CA425346112 | APOB | c.6348A>C (p.Gly2116=) c.5869+213A>C (n.5869+213A>C) | |
2 | g.21010520T= | CA2493476731 | APOB | c.6348A= (p.Gly2116=) c.5869+213A= (n.5869+213A=) | |
2 | g.21010521C>A | CA346001961 | APOB | c.6347G>T (p.Gly2116Val) c.5869+212G>T (n.5869+212G>T) | |
2 | g.21010521C>G | CA346001962 | APOB | c.6347G>C (p.Gly2116Ala) c.5869+212G>C (n.5869+212G>C) | |
2 | g.21010521C>T | CA346001963 | APOB | c.6347G>A (p.Gly2116Glu) c.5869+212G>A (n.5869+212G>A) | COSMIC |
2 | g.21010522C>A | CA346001964 | APOB | c.6346G>T (p.Gly2116Ter) c.5869+211G>T (n.5869+211G>T) | |
2 | g.21010522C>G | CA346001965 | APOB | c.6346G>C (p.Gly2116Arg) c.5869+211G>C (n.5869+211G>C) | |
2 | g.21010522C>T | CA346001966 | APOB | c.6346G>A (p.Gly2116Arg) c.5869+211G>A (n.5869+211G>A) | |
2 | g.21010523C>A | CA425346116 | APOB | c.6345G>T (p.Leu2115=) c.5869+210G>T (n.5869+210G>T) | |
2 | g.21010523C= | CA2493476732 | APOB | c.6345G= (p.Leu2115=) c.5869+210G= (n.5869+210G=) | |
2 | g.21010523C>G | CA425346118 | APOB | c.6345G>C (p.Leu2115=) c.5869+210G>C (n.5869+210G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010523C>T | CA425346119 | APOB | c.6345G>A (p.Leu2115=) c.5869+210G>A (n.5869+210G>A) | COSMIC |
2 | g.21010524A>C | CA346001967 | APOB | c.6344T>G (p.Leu2115Arg) c.5869+209T>G (n.5869+209T>G) | |
2 | g.21010524A>G | CA346001968 | APOB | c.6344T>C (p.Leu2115Pro) c.5869+209T>C (n.5869+209T>C) | |
2 | g.21010524A>T | CA346001969 | APOB | c.6344T>A (p.Leu2115Gln) c.5869+209T>A (n.5869+209T>A) | |
2 | g.21010525G>A | CA425346121 | APOB | c.6343C>T (p.Leu2115=) c.5869+208C>T (n.5869+208C>T) | |
2 | g.21010525G>C | CA346001970 | APOB | c.6343C>G (p.Leu2115Val) c.5869+208C>G (n.5869+208C>G) | |
2 | g.21010525G>T | CA346001971 | APOB | c.6343C>A (p.Leu2115Met) c.5869+208C>A (n.5869+208C>A) | |
2 | g.21010525_21010530del | CA2658056054 | APOB | c.6338_6343del (p.Ala2113_Leu2115delinsVal) c.5869+203_5869+208del (n.5869+203_5869+208del) | gnomAD v4 |
2 | g.21010526G>A | CA063120 | APOB | c.6342C>T (p.Ala2114=) c.5869+207C>T (n.5869+207C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010526G>C | CA425346130 | APOB | c.6342C>G (p.Ala2114=) c.5869+207C>G (n.5869+207C>G) | |
2 | g.21010526G= | CA2493476733 | APOB | c.6342C= (p.Ala2114=) c.5869+207C= (n.5869+207C=) | |
2 | g.21010526G>T | CA425346131 | APOB | c.6342C>A (p.Ala2114=) c.5869+207C>A (n.5869+207C>A) | |
2 | g.21010527G>A | CA346001972 | APOB | c.6341C>T (p.Ala2114Val) c.5869+206C>T (n.5869+206C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010527G>C | CA346001974 | APOB | c.6341C>G (p.Ala2114Gly) c.5869+206C>G (n.5869+206C>G) | |
2 | g.21010527G= | CA2493476734 | APOB | c.6341C= (p.Ala2114=) c.5869+206C= (n.5869+206C=) | |
2 | g.21010527G>T | CA346001973 | APOB | c.6341C>A (p.Ala2114Asp) c.5869+206C>A (n.5869+206C>A) | |
2 | g.21010528C>A | CA346001975 | APOB | c.6340G>T (p.Ala2114Ser) c.5869+205G>T (n.5869+205G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21010528C= | CA2493476735 | APOB | c.6340G= (p.Ala2114=) c.5869+205G= (n.5869+205G=) | |
2 | g.21010528C>G | CA43505461 | APOB | c.6340G>C (p.Ala2114Pro) c.5869+205G>C (n.5869+205G>C) | dbSNP |
2 | g.21010528C>T | CA346001976 | APOB | c.6340G>A (p.Ala2114Thr) c.5869+205G>A (n.5869+205G>A) | |
2 | g.21010529T>A | CA425346134 | APOB | c.6339A>T (p.Ala2113=) c.5869+204A>T (n.5869+204A>T) | |
2 | g.21010529T>C | CA425346137 | APOB | c.6339A>G (p.Ala2113=) c.5869+204A>G (n.5869+204A>G) | |
2 | g.21010529T>G | CA425346140 | APOB | c.6339A>C (p.Ala2113=) c.5869+204A>C (n.5869+204A>C) | |
2 | g.21010530G>A | CA43505462 | APOB | c.6338C>T (p.Ala2113Val) c.5869+203C>T (n.5869+203C>T) | dbSNP gnomAD v4 COSMIC |
2 | g.21010530G>C | CA346001977 | APOB | c.6338C>G (p.Ala2113Gly) c.5869+203C>G (n.5869+203C>G) | |
2 | g.21010530G= | CA2493476736 | APOB | c.6338C= (p.Ala2113=) c.5869+203C= (n.5869+203C=) | |
2 | g.21010530G>T | CA346001978 | APOB | c.6338C>A (p.Ala2113Glu) c.5869+203C>A (n.5869+203C>A) | dbSNP gnomAD v4 |
2 | g.21010531C>A | CA346001979 | APOB | c.6337G>T (p.Ala2113Ser) c.5869+202G>T (n.5869+202G>T) | gnomAD v4 |
2 | g.21010531C= | CA2493476737 | APOB | c.6337G= (p.Ala2113=) c.5869+202G= (n.5869+202G=) | |
2 | g.21010531C>G | CA346001980 | APOB | c.6337G>C (p.Ala2113Pro) c.5869+202G>C (n.5869+202G>C) | |
2 | g.21010531C>T | CA063112 | APOB | c.6337G>A (p.Ala2113Thr) c.5869+202G>A (n.5869+202G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010532T>A | CA346001981 | APOB | c.6336A>T (p.Arg2112Ser) c.5869+201A>T (n.5869+201A>T) | |
2 | g.21010532T>C | CA425346147 | APOB | c.6336A>G (p.Arg2112=) c.5869+201A>G (n.5869+201A>G) | ClinVar |
2 | g.21010532T>G | CA346001982 | APOB | c.6336A>C (p.Arg2112Ser) c.5869+201A>C (n.5869+201A>C) | |
2 | g.21010533C>A | CA346001983 | APOB | c.6335G>T (p.Arg2112Ile) c.5869+200G>T (n.5869+200G>T) | |
2 | g.21010533C>G | CA346001984 | APOB | c.6335G>C (p.Arg2112Thr) c.5869+200G>C (n.5869+200G>C) | |
2 | g.21010533C>T | CA346001985 | APOB | c.6335G>A (p.Arg2112Lys) c.5869+200G>A (n.5869+200G>A) | gnomAD v4 |
2 | g.21010534T>A | CA346001986 | APOB | c.6334A>T (p.Arg2112Ter) c.5869+199A>T (n.5869+199A>T) | |
2 | g.21010534T>C | CA346001987 | APOB | c.6334A>G (p.Arg2112Gly) c.5869+199A>G (n.5869+199A>G) | |
2 | g.21010534T>G | CA425346151 | APOB | c.6334A>C (p.Arg2112=) c.5869+199A>C (n.5869+199A>C) | |
2 | g.21010535G>A | CA425346156 | APOB | c.6333C>T (p.Tyr2111=) c.5869+198C>T (n.5869+198C>T) | |
2 | g.21010535G>C | CA346001988 | APOB | c.6333C>G (p.Tyr2111Ter) c.5869+198C>G (n.5869+198C>G) | gnomAD v4 |
2 | g.21010535G= | CA2493476738 | APOB | c.6333C= (p.Tyr2111=) c.5869+198C= (n.5869+198C=) | |
2 | g.21010535G>T | CA346001989 | APOB | c.6333C>A (p.Tyr2111Ter) c.5869+198C>A (n.5869+198C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010536T>A | CA346001990 | APOB | c.6332A>T (p.Tyr2111Phe) c.5869+197A>T (n.5869+197A>T) | |
2 | g.21010536T>C | CA43505475 | APOB | c.6332A>G (p.Tyr2111Cys) c.5869+197A>G (n.5869+197A>G) | ClinVar dbSNP |
2 | g.21010536T>G | CA346001991 | APOB | c.6332A>C (p.Tyr2111Ser) c.5869+197A>C (n.5869+197A>C) | |
2 | g.21010536T= | CA2493476739 | APOB | c.6332A= (p.Tyr2111=) c.5869+197A= (n.5869+197A=) | |
2 | g.21010537A= | CA2493476740 | APOB | c.6331T= (p.Tyr2111=) c.5869+196T= (n.5869+196T=) | |
2 | g.21010537A>C | CA346001992 | APOB | c.6331T>G (p.Tyr2111Asp) c.5869+196T>G (n.5869+196T>G) | dbSNP |
2 | g.21010537A>G | CA346001993 | APOB | c.6331T>C (p.Tyr2111His) c.5869+196T>C (n.5869+196T>C) | |
2 | g.21010537A>T | CA346001994 | APOB | c.6331T>A (p.Tyr2111Asn) c.5869+196T>A (n.5869+196T>A) | dbSNP gnomAD v2 gnomAD v4 |