Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |