Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152300647A>CCA452751359SYNE1c.17676T>G (p.Val5892=)
c.17463T>G (p.Val5821=)
c.16461T>G (p.Val5487=)
n.1368T>G
n.1260T>G
n.401+1222T>G
c.342T>G (p.Val114=)
c.207+1222T>G (n.207+1222T>G)
c.17697T>G (p.Val5899=)
c.17646T>G (p.Val5882=)
c.17625T>G (p.Val5875=)
c.17562+1222T>G (n.17562+1222T>G)
c.17541T>G (p.Val5847=)
c.17538T>G (p.Val5846=)
c.17532T>G (p.Val5844=)
c.15972T>G (p.Val5324=)
c.15465T>G (p.Val5155=)
c.10932T>G (p.Val3644=)
c.17670T>G (p.Val5890=)
c.17619T>G (p.Val5873=)
n.18180T>G
6g.152300647A>GCA452751360SYNE1c.17676T>C (p.Val5892=)
c.17463T>C (p.Val5821=)
c.16461T>C (p.Val5487=)
n.1368T>C
n.1260T>C
n.401+1222T>C
c.342T>C (p.Val114=)
c.207+1222T>C (n.207+1222T>C)
c.17697T>C (p.Val5899=)
c.17646T>C (p.Val5882=)
c.17625T>C (p.Val5875=)
c.17562+1222T>C (n.17562+1222T>C)
c.17541T>C (p.Val5847=)
c.17538T>C (p.Val5846=)
c.17532T>C (p.Val5844=)
c.15972T>C (p.Val5324=)
c.15465T>C (p.Val5155=)
c.10932T>C (p.Val3644=)
c.17670T>C (p.Val5890=)
c.17619T>C (p.Val5873=)
n.18180T>C
6g.152300647A>TCA452751361SYNE1c.17676T>A (p.Val5892=)
c.17463T>A (p.Val5821=)
c.16461T>A (p.Val5487=)
n.1368T>A
n.1260T>A
n.401+1222T>A
c.342T>A (p.Val114=)
c.207+1222T>A (n.207+1222T>A)
c.17697T>A (p.Val5899=)
c.17646T>A (p.Val5882=)
c.17625T>A (p.Val5875=)
c.17562+1222T>A (n.17562+1222T>A)
c.17541T>A (p.Val5847=)
c.17538T>A (p.Val5846=)
c.17532T>A (p.Val5844=)
c.15972T>A (p.Val5324=)
c.15465T>A (p.Val5155=)
c.10932T>A (p.Val3644=)
c.17670T>A (p.Val5890=)
c.17619T>A (p.Val5873=)
n.18180T>A
6g.152300648A>CCA366103171SYNE1c.17675T>G (p.Val5892Gly)
c.17462T>G (p.Val5821Gly)
c.16460T>G (p.Val5487Gly)
n.1367T>G
n.1259T>G
n.401+1221T>G
c.341T>G (p.Val114Gly)
c.207+1221T>G (n.207+1221T>G)
c.17696T>G (p.Val5899Gly)
c.17645T>G (p.Val5882Gly)
c.17624T>G (p.Val5875Gly)
c.17562+1221T>G (n.17562+1221T>G)
c.17540T>G (p.Val5847Gly)
c.17537T>G (p.Val5846Gly)
c.17531T>G (p.Val5844Gly)
c.15971T>G (p.Val5324Gly)
c.15464T>G (p.Val5155Gly)
c.10931T>G (p.Val3644Gly)
c.17669T>G (p.Val5890Gly)
c.17618T>G (p.Val5873Gly)
n.18179T>G
6g.152300648A>GCA366103173SYNE1c.17675T>C (p.Val5892Ala)
c.17462T>C (p.Val5821Ala)
c.16460T>C (p.Val5487Ala)
n.1367T>C
n.1259T>C
n.401+1221T>C
c.341T>C (p.Val114Ala)
c.207+1221T>C (n.207+1221T>C)
c.17696T>C (p.Val5899Ala)
c.17645T>C (p.Val5882Ala)
c.17624T>C (p.Val5875Ala)
c.17562+1221T>C (n.17562+1221T>C)
c.17540T>C (p.Val5847Ala)
c.17537T>C (p.Val5846Ala)
c.17531T>C (p.Val5844Ala)
c.15971T>C (p.Val5324Ala)
c.15464T>C (p.Val5155Ala)
c.10931T>C (p.Val3644Ala)
c.17669T>C (p.Val5890Ala)
c.17618T>C (p.Val5873Ala)
n.18179T>C
6g.152300648A>TCA366103174SYNE1c.17675T>A (p.Val5892Asp)
c.17462T>A (p.Val5821Asp)
c.16460T>A (p.Val5487Asp)
n.1367T>A
n.1259T>A
n.401+1221T>A
c.341T>A (p.Val114Asp)
c.207+1221T>A (n.207+1221T>A)
c.17696T>A (p.Val5899Asp)
c.17645T>A (p.Val5882Asp)
c.17624T>A (p.Val5875Asp)
c.17562+1221T>A (n.17562+1221T>A)
c.17540T>A (p.Val5847Asp)
c.17537T>A (p.Val5846Asp)
c.17531T>A (p.Val5844Asp)
c.15971T>A (p.Val5324Asp)
c.15464T>A (p.Val5155Asp)
c.10931T>A (p.Val3644Asp)
c.17669T>A (p.Val5890Asp)
c.17618T>A (p.Val5873Asp)
n.18179T>A
6g.152300649C>ACA366103176SYNE1c.17674G>T (p.Val5892Phe)
c.17461G>T (p.Val5821Phe)
c.16459G>T (p.Val5487Phe)
n.1366G>T
n.1258G>T
n.401+1220G>T
c.340G>T (p.Val114Phe)
c.207+1220G>T (n.207+1220G>T)
c.17695G>T (p.Val5899Phe)
c.17644G>T (p.Val5882Phe)
c.17623G>T (p.Val5875Phe)
c.17562+1220G>T (n.17562+1220G>T)
c.17539G>T (p.Val5847Phe)
c.17536G>T (p.Val5846Phe)
c.17530G>T (p.Val5844Phe)
c.15970G>T (p.Val5324Phe)
c.15463G>T (p.Val5155Phe)
c.10930G>T (p.Val3644Phe)
c.17668G>T (p.Val5890Phe)
c.17617G>T (p.Val5873Phe)
n.18178G>T
 gnomAD v4
6g.152300649C=CA1673268570SYNE1c.17674G= (p.Val5892=)
c.17461G= (p.Val5821=)
c.16459G= (p.Val5487=)
n.1366G=
n.1258G=
n.401+1220G=
c.340G= (p.Val114=)
c.207+1220G= (n.207+1220G=)
c.17695G= (p.Val5899=)
c.17644G= (p.Val5882=)
c.17623G= (p.Val5875=)
c.17562+1220G= (n.17562+1220G=)
c.17539G= (p.Val5847=)
c.17536G= (p.Val5846=)
c.17530G= (p.Val5844=)
c.15970G= (p.Val5324=)
c.15463G= (p.Val5155=)
c.10930G= (p.Val3644=)
c.17668G= (p.Val5890=)
c.17617G= (p.Val5873=)
n.18178G=
6g.152300649C>GCA150197335SYNE1c.17674G>C (p.Val5892Leu)
c.17461G>C (p.Val5821Leu)
c.16459G>C (p.Val5487Leu)
n.1366G>C
n.1258G>C
n.401+1220G>C
c.340G>C (p.Val114Leu)
c.207+1220G>C (n.207+1220G>C)
c.17695G>C (p.Val5899Leu)
c.17644G>C (p.Val5882Leu)
c.17623G>C (p.Val5875Leu)
c.17562+1220G>C (n.17562+1220G>C)
c.17539G>C (p.Val5847Leu)
c.17536G>C (p.Val5846Leu)
c.17530G>C (p.Val5844Leu)
c.15970G>C (p.Val5324Leu)
c.15463G>C (p.Val5155Leu)
c.10930G>C (p.Val3644Leu)
c.17668G>C (p.Val5890Leu)
c.17617G>C (p.Val5873Leu)
n.18178G>C
 ClinVar dbSNP gnomAD v4
6g.152300649C>TCA366103179SYNE1c.17674G>A (p.Val5892Ile)
c.17461G>A (p.Val5821Ile)
c.16459G>A (p.Val5487Ile)
n.1366G>A
n.1258G>A
n.401+1220G>A
c.340G>A (p.Val114Ile)
c.207+1220G>A (n.207+1220G>A)
c.17695G>A (p.Val5899Ile)
c.17644G>A (p.Val5882Ile)
c.17623G>A (p.Val5875Ile)
c.17562+1220G>A (n.17562+1220G>A)
c.17539G>A (p.Val5847Ile)
c.17536G>A (p.Val5846Ile)
c.17530G>A (p.Val5844Ile)
c.15970G>A (p.Val5324Ile)
c.15463G>A (p.Val5155Ile)
c.10930G>A (p.Val3644Ile)
c.17668G>A (p.Val5890Ile)
c.17617G>A (p.Val5873Ile)
n.18178G>A
6g.152300650A=CA1673268572SYNE1c.17673T= (p.Ser5891=)
c.17460T= (p.Ser5820=)
c.16458T= (p.Ser5486=)
n.1365T=
n.1257T=
n.401+1219T=
c.339T= (p.Ser113=)
c.207+1219T= (n.207+1219T=)
c.17694T= (p.Ser5898=)
c.17643T= (p.Ser5881=)
c.17622T= (p.Ser5874=)
c.17562+1219T= (n.17562+1219T=)
c.17538T= (p.Ser5846=)
c.17535T= (p.Ser5845=)
c.17529T= (p.Ser5843=)
c.15969T= (p.Ser5323=)
c.15462T= (p.Ser5154=)
c.10929T= (p.Ser3643=)
c.17667T= (p.Ser5889=)
c.17616T= (p.Ser5872=)
n.18177T=
6g.152300650A>CCA452751366SYNE1c.17673T>G (p.Ser5891=)
c.17460T>G (p.Ser5820=)
c.16458T>G (p.Ser5486=)
n.1365T>G
n.1257T>G
n.401+1219T>G
c.339T>G (p.Ser113=)
c.207+1219T>G (n.207+1219T>G)
c.17694T>G (p.Ser5898=)
c.17643T>G (p.Ser5881=)
c.17622T>G (p.Ser5874=)
c.17562+1219T>G (n.17562+1219T>G)
c.17538T>G (p.Ser5846=)
c.17535T>G (p.Ser5845=)
c.17529T>G (p.Ser5843=)
c.15969T>G (p.Ser5323=)
c.15462T>G (p.Ser5154=)
c.10929T>G (p.Ser3643=)
c.17667T>G (p.Ser5889=)
c.17616T>G (p.Ser5872=)
n.18177T>G
 dbSNP gnomAD v2 gnomAD v4
6g.152300650A>GCA452751367SYNE1c.17673T>C (p.Ser5891=)
c.17460T>C (p.Ser5820=)
c.16458T>C (p.Ser5486=)
n.1365T>C
n.1257T>C
n.401+1219T>C
c.339T>C (p.Ser113=)
c.207+1219T>C (n.207+1219T>C)
c.17694T>C (p.Ser5898=)
c.17643T>C (p.Ser5881=)
c.17622T>C (p.Ser5874=)
c.17562+1219T>C (n.17562+1219T>C)
c.17538T>C (p.Ser5846=)
c.17535T>C (p.Ser5845=)
c.17529T>C (p.Ser5843=)
c.15969T>C (p.Ser5323=)
c.15462T>C (p.Ser5154=)
c.10929T>C (p.Ser3643=)
c.17667T>C (p.Ser5889=)
c.17616T>C (p.Ser5872=)
n.18177T>C
6g.152300650A>TCA452751368SYNE1c.17673T>A (p.Ser5891=)
c.17460T>A (p.Ser5820=)
c.16458T>A (p.Ser5486=)
n.1365T>A
n.1257T>A
n.401+1219T>A
c.339T>A (p.Ser113=)
c.207+1219T>A (n.207+1219T>A)
c.17694T>A (p.Ser5898=)
c.17643T>A (p.Ser5881=)
c.17622T>A (p.Ser5874=)
c.17562+1219T>A (n.17562+1219T>A)
c.17538T>A (p.Ser5846=)
c.17535T>A (p.Ser5845=)
c.17529T>A (p.Ser5843=)
c.15969T>A (p.Ser5323=)
c.15462T>A (p.Ser5154=)
c.10929T>A (p.Ser3643=)
c.17667T>A (p.Ser5889=)
c.17616T>A (p.Ser5872=)
n.18177T>A
6g.152300650_152300651delinsAGCA1673268571SYNE1c.17672_17673delinsCT (p.Ser5891=)
c.17459_17460delinsCT (p.Ser5820=)
c.16457_16458delinsCT (p.Ser5486=)
n.1364_1365delinsCT
n.1256_1257delinsCT
n.401+1218_401+1219delinsCT
c.338_339delinsCT (p.Ser113=)
c.207+1218_207+1219delinsCT (n.207+1218_207+1219delinsCT)
c.17693_17694delinsCT (p.Ser5898=)
c.17642_17643delinsCT (p.Ser5881=)
c.17621_17622delinsCT (p.Ser5874=)
c.17562+1218_17562+1219delinsCT (n.17562+1218_17562+1219delinsCT)
c.17537_17538delinsCT (p.Ser5846=)
c.17534_17535delinsCT (p.Ser5845=)
c.17528_17529delinsCT (p.Ser5843=)
c.15968_15969delinsCT (p.Ser5323=)
c.15461_15462delinsCT (p.Ser5154=)
c.10928_10929delinsCT (p.Ser3643=)
c.17666_17667delinsCT (p.Ser5889=)
c.17615_17616delinsCT (p.Ser5872=)
n.18176_18177delinsCT
6g.152300651delCA4055167SYNE1c.17672del (p.Ser5891LeufsTer?)
c.17459del (p.Ser5820LeufsTer?)
c.16457del (p.Ser5486LeufsTer?)
n.1364del
n.1256del
n.401+1218del
c.338del (p.Ser113LeufsTer?)
c.207+1218del (n.207+1218del)
c.17693del (p.Ser5898LeufsTer?)
c.17642del (p.Ser5881LeufsTer?)
c.17621del (p.Ser5874LeufsTer?)
c.17562+1218del (n.17562+1218del)
c.17537del (p.Ser5846LeufsTer?)
c.17534del (p.Ser5845LeufsTer?)
c.17528del (p.Ser5843LeufsTer?)
c.15968del (p.Ser5323LeufsTer?)
c.15461del (p.Ser5154LeufsTer?)
c.10928del (p.Ser3643LeufsTer?)
c.17666del (p.Ser5889LeufsTer?)
c.17615del (p.Ser5872LeufsTer?)
n.18176del
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.152300651G>ACA366103182SYNE1c.17672C>T (p.Ser5891Phe)
c.17459C>T (p.Ser5820Phe)
c.16457C>T (p.Ser5486Phe)
n.1364C>T
n.1256C>T
n.401+1218C>T
c.338C>T (p.Ser113Phe)
c.207+1218C>T (n.207+1218C>T)
c.17693C>T (p.Ser5898Phe)
c.17642C>T (p.Ser5881Phe)
c.17621C>T (p.Ser5874Phe)
c.17562+1218C>T (n.17562+1218C>T)
c.17537C>T (p.Ser5846Phe)
c.17534C>T (p.Ser5845Phe)
c.17528C>T (p.Ser5843Phe)
c.15968C>T (p.Ser5323Phe)
c.15461C>T (p.Ser5154Phe)
c.10928C>T (p.Ser3643Phe)
c.17666C>T (p.Ser5889Phe)
c.17615C>T (p.Ser5872Phe)
n.18176C>T
 dbSNP
6g.152300651G>CCA366103187SYNE1c.17672C>G (p.Ser5891Cys)
c.17459C>G (p.Ser5820Cys)
c.16457C>G (p.Ser5486Cys)
n.1364C>G
n.1256C>G
n.401+1218C>G
c.338C>G (p.Ser113Cys)
c.207+1218C>G (n.207+1218C>G)
c.17693C>G (p.Ser5898Cys)
c.17642C>G (p.Ser5881Cys)
c.17621C>G (p.Ser5874Cys)
c.17562+1218C>G (n.17562+1218C>G)
c.17537C>G (p.Ser5846Cys)
c.17534C>G (p.Ser5845Cys)
c.17528C>G (p.Ser5843Cys)
c.15968C>G (p.Ser5323Cys)
c.15461C>G (p.Ser5154Cys)
c.10928C>G (p.Ser3643Cys)
c.17666C>G (p.Ser5889Cys)
c.17615C>G (p.Ser5872Cys)
n.18176C>G
6g.152300651G>TCA366103188SYNE1c.17672C>A (p.Ser5891Tyr)
c.17459C>A (p.Ser5820Tyr)
c.16457C>A (p.Ser5486Tyr)
n.1364C>A
n.1256C>A
n.401+1218C>A
c.338C>A (p.Ser113Tyr)
c.207+1218C>A (n.207+1218C>A)
c.17693C>A (p.Ser5898Tyr)
c.17642C>A (p.Ser5881Tyr)
c.17621C>A (p.Ser5874Tyr)
c.17562+1218C>A (n.17562+1218C>A)
c.17537C>A (p.Ser5846Tyr)
c.17534C>A (p.Ser5845Tyr)
c.17528C>A (p.Ser5843Tyr)
c.15968C>A (p.Ser5323Tyr)
c.15461C>A (p.Ser5154Tyr)
c.10928C>A (p.Ser3643Tyr)
c.17666C>A (p.Ser5889Tyr)
c.17615C>A (p.Ser5872Tyr)
n.18176C>A
6g.152300652A>CCA366103192SYNE1c.17671T>G (p.Ser5891Ala)
c.17458T>G (p.Ser5820Ala)
c.16456T>G (p.Ser5486Ala)
n.1363T>G
n.1255T>G
n.401+1217T>G
c.337T>G (p.Ser113Ala)
c.207+1217T>G (n.207+1217T>G)
c.17692T>G (p.Ser5898Ala)
c.17641T>G (p.Ser5881Ala)
c.17620T>G (p.Ser5874Ala)
c.17562+1217T>G (n.17562+1217T>G)
c.17536T>G (p.Ser5846Ala)
c.17533T>G (p.Ser5845Ala)
c.17527T>G (p.Ser5843Ala)
c.15967T>G (p.Ser5323Ala)
c.15460T>G (p.Ser5154Ala)
c.10927T>G (p.Ser3643Ala)
c.17665T>G (p.Ser5889Ala)
c.17614T>G (p.Ser5872Ala)
n.18175T>G
6g.152300652A>GCA366103193SYNE1c.17671T>C (p.Ser5891Pro)
c.17458T>C (p.Ser5820Pro)
c.16456T>C (p.Ser5486Pro)
n.1363T>C
n.1255T>C
n.401+1217T>C
c.337T>C (p.Ser113Pro)
c.207+1217T>C (n.207+1217T>C)
c.17692T>C (p.Ser5898Pro)
c.17641T>C (p.Ser5881Pro)
c.17620T>C (p.Ser5874Pro)
c.17562+1217T>C (n.17562+1217T>C)
c.17536T>C (p.Ser5846Pro)
c.17533T>C (p.Ser5845Pro)
c.17527T>C (p.Ser5843Pro)
c.15967T>C (p.Ser5323Pro)
c.15460T>C (p.Ser5154Pro)
c.10927T>C (p.Ser3643Pro)
c.17665T>C (p.Ser5889Pro)
c.17614T>C (p.Ser5872Pro)
n.18175T>C
6g.152300652A>TCA366103196SYNE1c.17671T>A (p.Ser5891Thr)
c.17458T>A (p.Ser5820Thr)
c.16456T>A (p.Ser5486Thr)
n.1363T>A
n.1255T>A
n.401+1217T>A
c.337T>A (p.Ser113Thr)
c.207+1217T>A (n.207+1217T>A)
c.17692T>A (p.Ser5898Thr)
c.17641T>A (p.Ser5881Thr)
c.17620T>A (p.Ser5874Thr)
c.17562+1217T>A (n.17562+1217T>A)
c.17536T>A (p.Ser5846Thr)
c.17533T>A (p.Ser5845Thr)
c.17527T>A (p.Ser5843Thr)
c.15967T>A (p.Ser5323Thr)
c.15460T>A (p.Ser5154Thr)
c.10927T>A (p.Ser3643Thr)
c.17665T>A (p.Ser5889Thr)
c.17614T>A (p.Ser5872Thr)
n.18175T>A
6g.152300653A>CCA452751378SYNE1c.17670T>G (p.Ala5890=)
c.17457T>G (p.Ala5819=)
c.16455T>G (p.Ala5485=)
n.1362T>G
n.1254T>G
n.401+1216T>G
c.336T>G (p.Ala112=)
c.207+1216T>G (n.207+1216T>G)
c.17691T>G (p.Ala5897=)
c.17640T>G (p.Ala5880=)
c.17619T>G (p.Ala5873=)
c.17562+1216T>G (n.17562+1216T>G)
c.17535T>G (p.Ala5845=)
c.17532T>G (p.Ala5844=)
c.17526T>G (p.Ala5842=)
c.15966T>G (p.Ala5322=)
c.15459T>G (p.Ala5153=)
c.10926T>G (p.Ala3642=)
c.17664T>G (p.Ala5888=)
c.17613T>G (p.Ala5871=)
n.18174T>G
6g.152300653A>GCA452751379SYNE1c.17670T>C (p.Ala5890=)
c.17457T>C (p.Ala5819=)
c.16455T>C (p.Ala5485=)
n.1362T>C
n.1254T>C
n.401+1216T>C
c.336T>C (p.Ala112=)
c.207+1216T>C (n.207+1216T>C)
c.17691T>C (p.Ala5897=)
c.17640T>C (p.Ala5880=)
c.17619T>C (p.Ala5873=)
c.17562+1216T>C (n.17562+1216T>C)
c.17535T>C (p.Ala5845=)
c.17532T>C (p.Ala5844=)
c.17526T>C (p.Ala5842=)
c.15966T>C (p.Ala5322=)
c.15459T>C (p.Ala5153=)
c.10926T>C (p.Ala3642=)
c.17664T>C (p.Ala5888=)
c.17613T>C (p.Ala5871=)
n.18174T>C
6g.152300653A>TCA452751380SYNE1c.17670T>A (p.Ala5890=)
c.17457T>A (p.Ala5819=)
c.16455T>A (p.Ala5485=)
n.1362T>A
n.1254T>A
n.401+1216T>A
c.336T>A (p.Ala112=)
c.207+1216T>A (n.207+1216T>A)
c.17691T>A (p.Ala5897=)
c.17640T>A (p.Ala5880=)
c.17619T>A (p.Ala5873=)
c.17562+1216T>A (n.17562+1216T>A)
c.17535T>A (p.Ala5845=)
c.17532T>A (p.Ala5844=)
c.17526T>A (p.Ala5842=)
c.15966T>A (p.Ala5322=)
c.15459T>A (p.Ala5153=)
c.10926T>A (p.Ala3642=)
c.17664T>A (p.Ala5888=)
c.17613T>A (p.Ala5871=)
n.18174T>A
6g.152300654G>ACA366103199SYNE1c.17669C>T (p.Ala5890Val)
c.17456C>T (p.Ala5819Val)
c.16454C>T (p.Ala5485Val)
n.1361C>T
n.1253C>T
n.401+1215C>T
c.335C>T (p.Ala112Val)
c.207+1215C>T (n.207+1215C>T)
c.17690C>T (p.Ala5897Val)
c.17639C>T (p.Ala5880Val)
c.17618C>T (p.Ala5873Val)
c.17562+1215C>T (n.17562+1215C>T)
c.17534C>T (p.Ala5845Val)
c.17531C>T (p.Ala5844Val)
c.17525C>T (p.Ala5842Val)
c.15965C>T (p.Ala5322Val)
c.15458C>T (p.Ala5153Val)
c.10925C>T (p.Ala3642Val)
c.17663C>T (p.Ala5888Val)
c.17612C>T (p.Ala5871Val)
n.18173C>T
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152300654G>CCA366103201SYNE1c.17669C>G (p.Ala5890Gly)
c.17456C>G (p.Ala5819Gly)
c.16454C>G (p.Ala5485Gly)
n.1361C>G
n.1253C>G
n.401+1215C>G
c.335C>G (p.Ala112Gly)
c.207+1215C>G (n.207+1215C>G)
c.17690C>G (p.Ala5897Gly)
c.17639C>G (p.Ala5880Gly)
c.17618C>G (p.Ala5873Gly)
c.17562+1215C>G (n.17562+1215C>G)
c.17534C>G (p.Ala5845Gly)
c.17531C>G (p.Ala5844Gly)
c.17525C>G (p.Ala5842Gly)
c.15965C>G (p.Ala5322Gly)
c.15458C>G (p.Ala5153Gly)
c.10925C>G (p.Ala3642Gly)
c.17663C>G (p.Ala5888Gly)
c.17612C>G (p.Ala5871Gly)
n.18173C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152300654G=CA1673268573SYNE1c.17669C= (p.Ala5890=)
c.17456C= (p.Ala5819=)
c.16454C= (p.Ala5485=)
n.1361C=
n.1253C=
n.401+1215C=
c.335C= (p.Ala112=)
c.207+1215C= (n.207+1215C=)
c.17690C= (p.Ala5897=)
c.17639C= (p.Ala5880=)
c.17618C= (p.Ala5873=)
c.17562+1215C= (n.17562+1215C=)
c.17534C= (p.Ala5845=)
c.17531C= (p.Ala5844=)
c.17525C= (p.Ala5842=)
c.15965C= (p.Ala5322=)
c.15458C= (p.Ala5153=)
c.10925C= (p.Ala3642=)
c.17663C= (p.Ala5888=)
c.17612C= (p.Ala5871=)
n.18173C=
6g.152300654G>TCA366103205SYNE1c.17669C>A (p.Ala5890Asp)
c.17456C>A (p.Ala5819Asp)
c.16454C>A (p.Ala5485Asp)
n.1361C>A
n.1253C>A
n.401+1215C>A
c.335C>A (p.Ala112Asp)
c.207+1215C>A (n.207+1215C>A)
c.17690C>A (p.Ala5897Asp)
c.17639C>A (p.Ala5880Asp)
c.17618C>A (p.Ala5873Asp)
c.17562+1215C>A (n.17562+1215C>A)
c.17534C>A (p.Ala5845Asp)
c.17531C>A (p.Ala5844Asp)
c.17525C>A (p.Ala5842Asp)
c.15965C>A (p.Ala5322Asp)
c.15458C>A (p.Ala5153Asp)
c.10925C>A (p.Ala3642Asp)
c.17663C>A (p.Ala5888Asp)
c.17612C>A (p.Ala5871Asp)
n.18173C>A
6g.152300655C>ACA4055168SYNE1c.17668G>T (p.Ala5890Ser)
c.17455G>T (p.Ala5819Ser)
c.16453G>T (p.Ala5485Ser)
n.1360G>T
n.1252G>T
n.401+1214G>T
c.334G>T (p.Ala112Ser)
c.207+1214G>T (n.207+1214G>T)
c.17689G>T (p.Ala5897Ser)
c.17638G>T (p.Ala5880Ser)
c.17617G>T (p.Ala5873Ser)
c.17562+1214G>T (n.17562+1214G>T)
c.17533G>T (p.Ala5845Ser)
c.17530G>T (p.Ala5844Ser)
c.17524G>T (p.Ala5842Ser)
c.15964G>T (p.Ala5322Ser)
c.15457G>T (p.Ala5153Ser)
c.10924G>T (p.Ala3642Ser)
c.17662G>T (p.Ala5888Ser)
c.17611G>T (p.Ala5871Ser)
n.18172G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152300655C=CA1673268574SYNE1c.17668G= (p.Ala5890=)
c.17455G= (p.Ala5819=)
c.16453G= (p.Ala5485=)
n.1360G=
n.1252G=
n.401+1214G=
c.334G= (p.Ala112=)
c.207+1214G= (n.207+1214G=)
c.17689G= (p.Ala5897=)
c.17638G= (p.Ala5880=)
c.17617G= (p.Ala5873=)
c.17562+1214G= (n.17562+1214G=)
c.17533G= (p.Ala5845=)
c.17530G= (p.Ala5844=)
c.17524G= (p.Ala5842=)
c.15964G= (p.Ala5322=)
c.15457G= (p.Ala5153=)
c.10924G= (p.Ala3642=)
c.17662G= (p.Ala5888=)
c.17611G= (p.Ala5871=)
n.18172G=
6g.152300655C>GCA366103210SYNE1c.17668G>C (p.Ala5890Pro)
c.17455G>C (p.Ala5819Pro)
c.16453G>C (p.Ala5485Pro)
n.1360G>C
n.1252G>C
n.401+1214G>C
c.334G>C (p.Ala112Pro)
c.207+1214G>C (n.207+1214G>C)
c.17689G>C (p.Ala5897Pro)
c.17638G>C (p.Ala5880Pro)
c.17617G>C (p.Ala5873Pro)
c.17562+1214G>C (n.17562+1214G>C)
c.17533G>C (p.Ala5845Pro)
c.17530G>C (p.Ala5844Pro)
c.17524G>C (p.Ala5842Pro)
c.15964G>C (p.Ala5322Pro)
c.15457G>C (p.Ala5153Pro)
c.10924G>C (p.Ala3642Pro)
c.17662G>C (p.Ala5888Pro)
c.17611G>C (p.Ala5871Pro)
n.18172G>C
6g.152300655C>TCA366103212SYNE1c.17668G>A (p.Ala5890Thr)
c.17455G>A (p.Ala5819Thr)
c.16453G>A (p.Ala5485Thr)
n.1360G>A
n.1252G>A
n.401+1214G>A
c.334G>A (p.Ala112Thr)
c.207+1214G>A (n.207+1214G>A)
c.17689G>A (p.Ala5897Thr)
c.17638G>A (p.Ala5880Thr)
c.17617G>A (p.Ala5873Thr)
c.17562+1214G>A (n.17562+1214G>A)
c.17533G>A (p.Ala5845Thr)
c.17530G>A (p.Ala5844Thr)
c.17524G>A (p.Ala5842Thr)
c.15964G>A (p.Ala5322Thr)
c.15457G>A (p.Ala5153Thr)
c.10924G>A (p.Ala3642Thr)
c.17662G>A (p.Ala5888Thr)
c.17611G>A (p.Ala5871Thr)
n.18172G>A
 dbSNP gnomAD v3 gnomAD v4
6g.152300656A>CCA366103215SYNE1c.17667T>G (p.Asp5889Glu)
c.17454T>G (p.Asp5818Glu)
c.16452T>G (p.Asp5484Glu)
n.1359T>G
n.1251T>G
n.401+1213T>G
c.333T>G (p.Asp111Glu)
c.207+1213T>G (n.207+1213T>G)
c.17688T>G (p.Asp5896Glu)
c.17637T>G (p.Asp5879Glu)
c.17616T>G (p.Asp5872Glu)
c.17562+1213T>G (n.17562+1213T>G)
c.17532T>G (p.Asp5844Glu)
c.17529T>G (p.Asp5843Glu)
c.17523T>G (p.Asp5841Glu)
c.15963T>G (p.Asp5321Glu)
c.15456T>G (p.Asp5152Glu)
c.10923T>G (p.Asp3641Glu)
c.17661T>G (p.Asp5887Glu)
c.17610T>G (p.Asp5870Glu)
n.18171T>G
6g.152300656A>GCA452751385SYNE1c.17667T>C (p.Asp5889=)
c.17454T>C (p.Asp5818=)
c.16452T>C (p.Asp5484=)
n.1359T>C
n.1251T>C
n.401+1213T>C
c.333T>C (p.Asp111=)
c.207+1213T>C (n.207+1213T>C)
c.17688T>C (p.Asp5896=)
c.17637T>C (p.Asp5879=)
c.17616T>C (p.Asp5872=)
c.17562+1213T>C (n.17562+1213T>C)
c.17532T>C (p.Asp5844=)
c.17529T>C (p.Asp5843=)
c.17523T>C (p.Asp5841=)
c.15963T>C (p.Asp5321=)
c.15456T>C (p.Asp5152=)
c.10923T>C (p.Asp3641=)
c.17661T>C (p.Asp5887=)
c.17610T>C (p.Asp5870=)
n.18171T>C
6g.152300656A>TCA366103217SYNE1c.17667T>A (p.Asp5889Glu)
c.17454T>A (p.Asp5818Glu)
c.16452T>A (p.Asp5484Glu)
n.1359T>A
n.1251T>A
n.401+1213T>A
c.333T>A (p.Asp111Glu)
c.207+1213T>A (n.207+1213T>A)
c.17688T>A (p.Asp5896Glu)
c.17637T>A (p.Asp5879Glu)
c.17616T>A (p.Asp5872Glu)
c.17562+1213T>A (n.17562+1213T>A)
c.17532T>A (p.Asp5844Glu)
c.17529T>A (p.Asp5843Glu)
c.17523T>A (p.Asp5841Glu)
c.15963T>A (p.Asp5321Glu)
c.15456T>A (p.Asp5152Glu)
c.10923T>A (p.Asp3641Glu)
c.17661T>A (p.Asp5887Glu)
c.17610T>A (p.Asp5870Glu)
n.18171T>A
6g.152300657T>ACA4055169SYNE1c.17666A>T (p.Asp5889Val)
c.17453A>T (p.Asp5818Val)
c.16451A>T (p.Asp5484Val)
n.1358A>T
n.1250A>T
n.401+1212A>T
c.332A>T (p.Asp111Val)
c.207+1212A>T (n.207+1212A>T)
c.17687A>T (p.Asp5896Val)
c.17636A>T (p.Asp5879Val)
c.17615A>T (p.Asp5872Val)
c.17562+1212A>T (n.17562+1212A>T)
c.17531A>T (p.Asp5844Val)
c.17528A>T (p.Asp5843Val)
c.17522A>T (p.Asp5841Val)
c.15962A>T (p.Asp5321Val)
c.15455A>T (p.Asp5152Val)
c.10922A>T (p.Asp3641Val)
c.17660A>T (p.Asp5887Val)
c.17609A>T (p.Asp5870Val)
n.18170A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152300657T>CCA366103219SYNE1c.17666A>G (p.Asp5889Gly)
c.17453A>G (p.Asp5818Gly)
c.16451A>G (p.Asp5484Gly)
n.1358A>G
n.1250A>G
n.401+1212A>G
c.332A>G (p.Asp111Gly)
c.207+1212A>G (n.207+1212A>G)
c.17687A>G (p.Asp5896Gly)
c.17636A>G (p.Asp5879Gly)
c.17615A>G (p.Asp5872Gly)
c.17562+1212A>G (n.17562+1212A>G)
c.17531A>G (p.Asp5844Gly)
c.17528A>G (p.Asp5843Gly)
c.17522A>G (p.Asp5841Gly)
c.15962A>G (p.Asp5321Gly)
c.15455A>G (p.Asp5152Gly)
c.10922A>G (p.Asp3641Gly)
c.17660A>G (p.Asp5887Gly)
c.17609A>G (p.Asp5870Gly)
n.18170A>G
6g.152300657T>GCA366103222SYNE1c.17666A>C (p.Asp5889Ala)
c.17453A>C (p.Asp5818Ala)
c.16451A>C (p.Asp5484Ala)
n.1358A>C
n.1250A>C
n.401+1212A>C
c.332A>C (p.Asp111Ala)
c.207+1212A>C (n.207+1212A>C)
c.17687A>C (p.Asp5896Ala)
c.17636A>C (p.Asp5879Ala)
c.17615A>C (p.Asp5872Ala)
c.17562+1212A>C (n.17562+1212A>C)
c.17531A>C (p.Asp5844Ala)
c.17528A>C (p.Asp5843Ala)
c.17522A>C (p.Asp5841Ala)
c.15962A>C (p.Asp5321Ala)
c.15455A>C (p.Asp5152Ala)
c.10922A>C (p.Asp3641Ala)
c.17660A>C (p.Asp5887Ala)
c.17609A>C (p.Asp5870Ala)
n.18170A>C
6g.152300657T=CA1673268575SYNE1c.17666A= (p.Asp5889=)
c.17453A= (p.Asp5818=)
c.16451A= (p.Asp5484=)
n.1358A=
n.1250A=
n.401+1212A=
c.332A= (p.Asp111=)
c.207+1212A= (n.207+1212A=)
c.17687A= (p.Asp5896=)
c.17636A= (p.Asp5879=)
c.17615A= (p.Asp5872=)
c.17562+1212A= (n.17562+1212A=)
c.17531A= (p.Asp5844=)
c.17528A= (p.Asp5843=)
c.17522A= (p.Asp5841=)
c.15962A= (p.Asp5321=)
c.15455A= (p.Asp5152=)
c.10922A= (p.Asp3641=)
c.17660A= (p.Asp5887=)
c.17609A= (p.Asp5870=)
n.18170A=
6g.152300658C>ACA366103227SYNE1c.17665G>T (p.Asp5889Tyr)
c.17452G>T (p.Asp5818Tyr)
c.16450G>T (p.Asp5484Tyr)
n.1357G>T
n.1249G>T
n.401+1211G>T
c.331G>T (p.Asp111Tyr)
c.207+1211G>T (n.207+1211G>T)
c.17686G>T (p.Asp5896Tyr)
c.17635G>T (p.Asp5879Tyr)
c.17614G>T (p.Asp5872Tyr)
c.17562+1211G>T (n.17562+1211G>T)
c.17530G>T (p.Asp5844Tyr)
c.17527G>T (p.Asp5843Tyr)
c.17521G>T (p.Asp5841Tyr)
c.15961G>T (p.Asp5321Tyr)
c.15454G>T (p.Asp5152Tyr)
c.10921G>T (p.Asp3641Tyr)
c.17659G>T (p.Asp5887Tyr)
c.17608G>T (p.Asp5870Tyr)
n.18169G>T
6g.152300658C>GCA366103228SYNE1c.17665G>C (p.Asp5889His)
c.17452G>C (p.Asp5818His)
c.16450G>C (p.Asp5484His)
n.1357G>C
n.1249G>C
n.401+1211G>C
c.331G>C (p.Asp111His)
c.207+1211G>C (n.207+1211G>C)
c.17686G>C (p.Asp5896His)
c.17635G>C (p.Asp5879His)
c.17614G>C (p.Asp5872His)
c.17562+1211G>C (n.17562+1211G>C)
c.17530G>C (p.Asp5844His)
c.17527G>C (p.Asp5843His)
c.17521G>C (p.Asp5841His)
c.15961G>C (p.Asp5321His)
c.15454G>C (p.Asp5152His)
c.10921G>C (p.Asp3641His)
c.17659G>C (p.Asp5887His)
c.17608G>C (p.Asp5870His)
n.18169G>C
6g.152300658C>TCA366103229SYNE1c.17665G>A (p.Asp5889Asn)
c.17452G>A (p.Asp5818Asn)
c.16450G>A (p.Asp5484Asn)
n.1357G>A
n.1249G>A
n.401+1211G>A
c.331G>A (p.Asp111Asn)
c.207+1211G>A (n.207+1211G>A)
c.17686G>A (p.Asp5896Asn)
c.17635G>A (p.Asp5879Asn)
c.17614G>A (p.Asp5872Asn)
c.17562+1211G>A (n.17562+1211G>A)
c.17530G>A (p.Asp5844Asn)
c.17527G>A (p.Asp5843Asn)
c.17521G>A (p.Asp5841Asn)
c.15961G>A (p.Asp5321Asn)
c.15454G>A (p.Asp5152Asn)
c.10921G>A (p.Asp3641Asn)
c.17659G>A (p.Asp5887Asn)
c.17608G>A (p.Asp5870Asn)
n.18169G>A
6g.152300659T>ACA452751388SYNE1c.17664A>T (p.Thr5888=)
c.17451A>T (p.Thr5817=)
c.16449A>T (p.Thr5483=)
n.1356A>T
n.1248A>T
n.401+1210A>T
c.330A>T (p.Thr110=)
c.207+1210A>T (n.207+1210A>T)
c.17685A>T (p.Thr5895=)
c.17634A>T (p.Thr5878=)
c.17613A>T (p.Thr5871=)
c.17562+1210A>T (n.17562+1210A>T)
c.17529A>T (p.Thr5843=)
c.17526A>T (p.Thr5842=)
c.17520A>T (p.Thr5840=)
c.15960A>T (p.Thr5320=)
c.15453A>T (p.Thr5151=)
c.10920A>T (p.Thr3640=)
c.17658A>T (p.Thr5886=)
c.17607A>T (p.Thr5869=)
n.18168A>T
6g.152300659T>CCA452751389SYNE1c.17664A>G (p.Thr5888=)
c.17451A>G (p.Thr5817=)
c.16449A>G (p.Thr5483=)
n.1356A>G
n.1248A>G
n.401+1210A>G
c.330A>G (p.Thr110=)
c.207+1210A>G (n.207+1210A>G)
c.17685A>G (p.Thr5895=)
c.17634A>G (p.Thr5878=)
c.17613A>G (p.Thr5871=)
c.17562+1210A>G (n.17562+1210A>G)
c.17529A>G (p.Thr5843=)
c.17526A>G (p.Thr5842=)
c.17520A>G (p.Thr5840=)
c.15960A>G (p.Thr5320=)
c.15453A>G (p.Thr5151=)
c.10920A>G (p.Thr3640=)
c.17658A>G (p.Thr5886=)
c.17607A>G (p.Thr5869=)
n.18168A>G
6g.152300659T>GCA452751390SYNE1c.17664A>C (p.Thr5888=)
c.17451A>C (p.Thr5817=)
c.16449A>C (p.Thr5483=)
n.1356A>C
n.1248A>C
n.401+1210A>C
c.330A>C (p.Thr110=)
c.207+1210A>C (n.207+1210A>C)
c.17685A>C (p.Thr5895=)
c.17634A>C (p.Thr5878=)
c.17613A>C (p.Thr5871=)
c.17562+1210A>C (n.17562+1210A>C)
c.17529A>C (p.Thr5843=)
c.17526A>C (p.Thr5842=)
c.17520A>C (p.Thr5840=)
c.15960A>C (p.Thr5320=)
c.15453A>C (p.Thr5151=)
c.10920A>C (p.Thr3640=)
c.17658A>C (p.Thr5886=)
c.17607A>C (p.Thr5869=)
n.18168A>C
6g.152300660G>ACA366103230SYNE1c.17663C>T (p.Thr5888Ile)
c.17450C>T (p.Thr5817Ile)
c.16448C>T (p.Thr5483Ile)
n.1355C>T
n.1247C>T
n.401+1209C>T
c.329C>T (p.Thr110Ile)
c.207+1209C>T (n.207+1209C>T)
c.17684C>T (p.Thr5895Ile)
c.17633C>T (p.Thr5878Ile)
c.17612C>T (p.Thr5871Ile)
c.17562+1209C>T (n.17562+1209C>T)
c.17528C>T (p.Thr5843Ile)
c.17525C>T (p.Thr5842Ile)
c.17519C>T (p.Thr5840Ile)
c.15959C>T (p.Thr5320Ile)
c.15452C>T (p.Thr5151Ile)
c.10919C>T (p.Thr3640Ile)
c.17657C>T (p.Thr5886Ile)
c.17606C>T (p.Thr5869Ile)
n.18167C>T
 gnomAD v4
6g.152300660G>CCA366103232SYNE1c.17663C>G (p.Thr5888Arg)
c.17450C>G (p.Thr5817Arg)
c.16448C>G (p.Thr5483Arg)
n.1355C>G
n.1247C>G
n.401+1209C>G
c.329C>G (p.Thr110Arg)
c.207+1209C>G (n.207+1209C>G)
c.17684C>G (p.Thr5895Arg)
c.17633C>G (p.Thr5878Arg)
c.17612C>G (p.Thr5871Arg)
c.17562+1209C>G (n.17562+1209C>G)
c.17528C>G (p.Thr5843Arg)
c.17525C>G (p.Thr5842Arg)
c.17519C>G (p.Thr5840Arg)
c.15959C>G (p.Thr5320Arg)
c.15452C>G (p.Thr5151Arg)
c.10919C>G (p.Thr3640Arg)
c.17657C>G (p.Thr5886Arg)
c.17606C>G (p.Thr5869Arg)
n.18167C>G
 dbSNP gnomAD v4
6g.152300660G=CA1673268576SYNE1c.17663C= (p.Thr5888=)
c.17450C= (p.Thr5817=)
c.16448C= (p.Thr5483=)
n.1355C=
n.1247C=
n.401+1209C=
c.329C= (p.Thr110=)
c.207+1209C= (n.207+1209C=)
c.17684C= (p.Thr5895=)
c.17633C= (p.Thr5878=)
c.17612C= (p.Thr5871=)
c.17562+1209C= (n.17562+1209C=)
c.17528C= (p.Thr5843=)
c.17525C= (p.Thr5842=)
c.17519C= (p.Thr5840=)
c.15959C= (p.Thr5320=)
c.15452C= (p.Thr5151=)
c.10919C= (p.Thr3640=)
c.17657C= (p.Thr5886=)
c.17606C= (p.Thr5869=)
n.18167C=
6g.152300660G>TCA366103234SYNE1c.17663C>A (p.Thr5888Lys)
c.17450C>A (p.Thr5817Lys)
c.16448C>A (p.Thr5483Lys)
n.1355C>A
n.1247C>A
n.401+1209C>A
c.329C>A (p.Thr110Lys)
c.207+1209C>A (n.207+1209C>A)
c.17684C>A (p.Thr5895Lys)
c.17633C>A (p.Thr5878Lys)
c.17612C>A (p.Thr5871Lys)
c.17562+1209C>A (n.17562+1209C>A)
c.17528C>A (p.Thr5843Lys)
c.17525C>A (p.Thr5842Lys)
c.17519C>A (p.Thr5840Lys)
c.15959C>A (p.Thr5320Lys)
c.15452C>A (p.Thr5151Lys)
c.10919C>A (p.Thr3640Lys)
c.17657C>A (p.Thr5886Lys)
c.17606C>A (p.Thr5869Lys)
n.18167C>A

Number of alleles fetched