Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.1771217T>A | CA369952994 | CLN8 | c.163T>A (p.Ser55Thr) c.116T>A | |
8 | g.1771217T>C | CA369952993 | CLN8 | c.163T>C (p.Ser55Pro) c.116T>C | |
8 | g.1771217T>G | CA369952992 | CLN8 | c.163T>G (p.Ser55Ala) c.116T>G | ClinVar dbSNP |
8 | g.1771217T= | CA1757666908 | CLN8 | c.163T= (p.Ser55=) c.116T= | |
8 | g.1771218C>A | CA369952997 | CLN8 | c.164C>A (p.Ser55Tyr) c.117C>A | gnomAD v4 |
8 | g.1771218C= | CA1757666909 | CLN8 | c.164C= (p.Ser55=) c.117C= | |
8 | g.1771218C>G | CA369952995 | CLN8 | c.164C>G (p.Ser55Cys) c.117C>G | |
8 | g.1771218C>T | CA369952996 | CLN8 | c.164C>T (p.Ser55Phe) c.117C>T | dbSNP gnomAD v2 |
8 | g.1771219T>A | CA459142986 | CLN8 | c.165T>A (p.Ser55=) c.118T>A | |
8 | g.1771219T>C | CA459142987 | CLN8 | c.165T>C (p.Ser55=) c.118T>C | |
8 | g.1771219T>G | CA459142988 | CLN8 | c.165T>G (p.Ser55=) c.118T>G | |
8 | g.1771220T>A | CA369952998 | CLN8 | c.166T>A (p.Leu56Met) c.119T>A | |
8 | g.1771220T>C | CA459142989 | CLN8 | c.166T>C (p.Leu56=) c.119T>C | gnomAD v4 |
8 | g.1771220T>G | CA369952999 | CLN8 | c.166T>G (p.Leu56Val) c.119T>G | |
8 | g.1771221T>A | CA369953000 | CLN8 | c.167T>A (p.Leu56Ter) c.120T>A | |
8 | g.1771221T>C | CA369953001 | CLN8 | c.167T>C (p.Leu56Ser) c.120T>C | |
8 | g.1771221T>G | CA369953002 | CLN8 | c.167T>G (p.Leu56Trp) c.120T>G | |
8 | g.1771222G>A | CA459142993 | CLN8 | c.168G>A (p.Leu56=) c.121G>A | |
8 | g.1771222G>C | CA369953003 | CLN8 | c.168G>C (p.Leu56Phe) c.121G>C | |
8 | g.1771222G>T | CA369953004 | CLN8 | c.168G>T (p.Leu56Phe) c.121G>T | |
8 | g.1771223G>A | CA369953005 | CLN8 | c.169G>A (p.Val57Met) c.122G>A | |
8 | g.1771223G>C | CA369953006 | CLN8 | c.169G>C (p.Val57Leu) c.122G>C | |
8 | g.1771223G>T | CA369953007 | CLN8 | c.169G>T (p.Val57Leu) c.122G>T | |
8 | g.1771224T>A | CA369953009 | CLN8 | c.170T>A (p.Val57Glu) c.123T>A | |
8 | g.1771224T>C | CA369953010 | CLN8 | c.170T>C (p.Val57Ala) c.123T>C | |
8 | g.1771224T>G | CA369953008 | CLN8 | c.170T>G (p.Val57Gly) c.123T>G | |
8 | g.1771225G>A | CA459142996 | CLN8 | c.171G>A (p.Val57=) c.124G>A | |
8 | g.1771225G>C | CA459142997 | CLN8 | c.171G>C (p.Val57=) c.124G>C | |
8 | g.1771225G>T | CA459142999 | CLN8 | c.171G>T (p.Val57=) c.124G>T | |
8 | g.1771226G>A | CA369953011 | CLN8 | c.172G>A (p.Ala58Thr) c.125G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771226G>C | CA369953012 | CLN8 | c.172G>C (p.Ala58Pro) c.125G>C | gnomAD v4 |
8 | g.1771226G= | CA1757666912 | CLN8 | c.172G= (p.Ala58=) c.125G= | |
8 | g.1771226G>T | CA369953013 | CLN8 | c.172G>T (p.Ala58Ser) c.125G>T | |
8 | g.1771227C>A | CA369953014 | CLN8 | c.173C>A (p.Ala58Asp) c.126C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771227C= | CA1757666915 | CLN8 | c.173C= (p.Ala58=) c.126C= | |
8 | g.1771227C>G | CA369953015 | CLN8 | c.173C>G (p.Ala58Gly) c.126C>G | |
8 | g.1771227C>T | CA369953016 | CLN8 | c.173C>T (p.Ala58Val) c.126C>T | |
8 | g.1771228C>A | CA459143003 | CLN8 | c.174C>A (p.Ala58=) c.127C>A | |
8 | g.1771228C= | CA1757666918 | CLN8 | c.174C= (p.Ala58=) c.127C= | |
8 | g.1771228C>G | CA459143004 | CLN8 | c.174C>G (p.Ala58=) c.127C>G | gnomAD v4 |
8 | g.1771228C>T | CA170445676 | CLN8 | c.174C>T (p.Ala58=) c.127C>T | ClinVar dbSNP gnomAD v4 |
8 | g.1771229A>C | CA459143006 | CLN8 | c.175A>C (p.Arg59=) c.128A>C | |
8 | g.1771229A>G | CA369953017 | CLN8 | c.175A>G (p.Arg59Gly) c.128A>G | |
8 | g.1771229A>T | CA369953018 | CLN8 | c.175A>T (p.Arg59Ter) c.128A>T | |
8 | g.1771230G>A | CA369953019 | CLN8 | c.176G>A (p.Arg59Lys) c.129G>A | |
8 | g.1771230G>C | CA314044 | CLN8 | c.176G>C (p.Arg59Thr) c.129G>C | ClinVar dbSNP gnomAD v4 |
8 | g.1771230G= | CA1757666925 | CLN8 | c.176G= (p.Arg59=) c.129G= | |
8 | g.1771230G>T | CA369953020 | CLN8 | c.176G>T (p.Arg59Ile) c.129G>T | |
8 | g.1771231A>C | CA369953021 | CLN8 | c.177A>C (p.Arg59Ser) c.130A>C | |
8 | g.1771231A>G | CA459143010 | CLN8 | c.177A>G (p.Arg59=) c.130A>G |