Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152326083C>ACA366093116SYNE1c.15313G>T (p.Asp5105Tyr)
c.15100G>T (p.Asp5034Tyr)
c.14466+230G>T (n.14466+230G>T)
c.-606G>T (n.-606G>T)
n.2659G>T
c.15334G>T (p.Asp5112Tyr)
c.15283G>T (p.Asp5095Tyr)
c.15262G>T (p.Asp5088Tyr)
c.15178G>T (p.Asp5060Tyr)
c.15175G>T (p.Asp5059Tyr)
c.15169G>T (p.Asp5057Tyr)
c.13609G>T (p.Asp4537Tyr)
c.13102G>T (p.Asp4368Tyr)
c.8569G>T (p.Asp2857Tyr)
c.15307G>T (p.Asp5103Tyr)
c.15256G>T (p.Asp5086Tyr)
n.15817G>T
6g.152326083C=CA1673283667SYNE1c.15313G= (p.Asp5105=)
c.15100G= (p.Asp5034=)
c.14466+230G= (n.14466+230G=)
c.-606G= (n.-606G=)
n.2659G=
c.15334G= (p.Asp5112=)
c.15283G= (p.Asp5095=)
c.15262G= (p.Asp5088=)
c.15178G= (p.Asp5060=)
c.15175G= (p.Asp5059=)
c.15169G= (p.Asp5057=)
c.13609G= (p.Asp4537=)
c.13102G= (p.Asp4368=)
c.8569G= (p.Asp2857=)
c.15307G= (p.Asp5103=)
c.15256G= (p.Asp5086=)
n.15817G=
6g.152326083C>GCA366093120SYNE1c.15313G>C (p.Asp5105His)
c.15100G>C (p.Asp5034His)
c.14466+230G>C (n.14466+230G>C)
c.-606G>C (n.-606G>C)
n.2659G>C
c.15334G>C (p.Asp5112His)
c.15283G>C (p.Asp5095His)
c.15262G>C (p.Asp5088His)
c.15178G>C (p.Asp5060His)
c.15175G>C (p.Asp5059His)
c.15169G>C (p.Asp5057His)
c.13609G>C (p.Asp4537His)
c.13102G>C (p.Asp4368His)
c.8569G>C (p.Asp2857His)
c.15307G>C (p.Asp5103His)
c.15256G>C (p.Asp5086His)
n.15817G>C
6g.152326083C>TCA4055822SYNE1c.15313G>A (p.Asp5105Asn)
c.15100G>A (p.Asp5034Asn)
c.14466+230G>A (n.14466+230G>A)
c.-606G>A (n.-606G>A)
n.2659G>A
c.15334G>A (p.Asp5112Asn)
c.15283G>A (p.Asp5095Asn)
c.15262G>A (p.Asp5088Asn)
c.15178G>A (p.Asp5060Asn)
c.15175G>A (p.Asp5059Asn)
c.15169G>A (p.Asp5057Asn)
c.13609G>A (p.Asp4537Asn)
c.13102G>A (p.Asp4368Asn)
c.8569G>A (p.Asp2857Asn)
c.15307G>A (p.Asp5103Asn)
c.15256G>A (p.Asp5086Asn)
n.15817G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152326084G>ACA4055823SYNE1c.15312C>T (p.His5104=)
c.15099C>T (p.His5033=)
c.14466+229C>T (n.14466+229C>T)
c.-607C>T (n.-607C>T)
n.2658C>T
c.15333C>T (p.His5111=)
c.15282C>T (p.His5094=)
c.15261C>T (p.His5087=)
c.15177C>T (p.His5059=)
c.15174C>T (p.His5058=)
c.15168C>T (p.His5056=)
c.13608C>T (p.His4536=)
c.13101C>T (p.His4367=)
c.8568C>T (p.His2856=)
c.15306C>T (p.His5102=)
c.15255C>T (p.His5085=)
n.15816C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.152326084G>CCA366093128SYNE1c.15312C>G (p.His5104Gln)
c.15099C>G (p.His5033Gln)
c.14466+229C>G (n.14466+229C>G)
c.-607C>G (n.-607C>G)
n.2658C>G
c.15333C>G (p.His5111Gln)
c.15282C>G (p.His5094Gln)
c.15261C>G (p.His5087Gln)
c.15177C>G (p.His5059Gln)
c.15174C>G (p.His5058Gln)
c.15168C>G (p.His5056Gln)
c.13608C>G (p.His4536Gln)
c.13101C>G (p.His4367Gln)
c.8568C>G (p.His2856Gln)
c.15306C>G (p.His5102Gln)
c.15255C>G (p.His5085Gln)
n.15816C>G
6g.152326084G=CA1673283677SYNE1c.15312C= (p.His5104=)
c.15099C= (p.His5033=)
c.14466+229C= (n.14466+229C=)
c.-607C= (n.-607C=)
n.2658C=
c.15333C= (p.His5111=)
c.15282C= (p.His5094=)
c.15261C= (p.His5087=)
c.15177C= (p.His5059=)
c.15174C= (p.His5058=)
c.15168C= (p.His5056=)
c.13608C= (p.His4536=)
c.13101C= (p.His4367=)
c.8568C= (p.His2856=)
c.15306C= (p.His5102=)
c.15255C= (p.His5085=)
n.15816C=
6g.152326084G>TCA366093125SYNE1c.15312C>A (p.His5104Gln)
c.15099C>A (p.His5033Gln)
c.14466+229C>A (n.14466+229C>A)
c.-607C>A (n.-607C>A)
n.2658C>A
c.15333C>A (p.His5111Gln)
c.15282C>A (p.His5094Gln)
c.15261C>A (p.His5087Gln)
c.15177C>A (p.His5059Gln)
c.15174C>A (p.His5058Gln)
c.15168C>A (p.His5056Gln)
c.13608C>A (p.His4536Gln)
c.13101C>A (p.His4367Gln)
c.8568C>A (p.His2856Gln)
c.15306C>A (p.His5102Gln)
c.15255C>A (p.His5085Gln)
n.15816C>A
6g.152326085T>ACA366093133SYNE1c.15311A>T (p.His5104Leu)
c.15098A>T (p.His5033Leu)
c.14466+228A>T (n.14466+228A>T)
c.-608A>T (n.-608A>T)
n.2657A>T
c.15332A>T (p.His5111Leu)
c.15281A>T (p.His5094Leu)
c.15260A>T (p.His5087Leu)
c.15176A>T (p.His5059Leu)
c.15173A>T (p.His5058Leu)
c.15167A>T (p.His5056Leu)
c.13607A>T (p.His4536Leu)
c.13100A>T (p.His4367Leu)
c.8567A>T (p.His2856Leu)
c.15305A>T (p.His5102Leu)
c.15254A>T (p.His5085Leu)
n.15815A>T
6g.152326085T>CCA366093136SYNE1c.15311A>G (p.His5104Arg)
c.15098A>G (p.His5033Arg)
c.14466+228A>G (n.14466+228A>G)
c.-608A>G (n.-608A>G)
n.2657A>G
c.15332A>G (p.His5111Arg)
c.15281A>G (p.His5094Arg)
c.15260A>G (p.His5087Arg)
c.15176A>G (p.His5059Arg)
c.15173A>G (p.His5058Arg)
c.15167A>G (p.His5056Arg)
c.13607A>G (p.His4536Arg)
c.13100A>G (p.His4367Arg)
c.8567A>G (p.His2856Arg)
c.15305A>G (p.His5102Arg)
c.15254A>G (p.His5085Arg)
n.15815A>G
6g.152326085T>GCA366093139SYNE1c.15311A>C (p.His5104Pro)
c.15098A>C (p.His5033Pro)
c.14466+228A>C (n.14466+228A>C)
c.-608A>C (n.-608A>C)
n.2657A>C
c.15332A>C (p.His5111Pro)
c.15281A>C (p.His5094Pro)
c.15260A>C (p.His5087Pro)
c.15176A>C (p.His5059Pro)
c.15173A>C (p.His5058Pro)
c.15167A>C (p.His5056Pro)
c.13607A>C (p.His4536Pro)
c.13100A>C (p.His4367Pro)
c.8567A>C (p.His2856Pro)
c.15305A>C (p.His5102Pro)
c.15254A>C (p.His5085Pro)
n.15815A>C
6g.152326086G>ACA366093141SYNE1c.15310C>T (p.His5104Tyr)
c.15097C>T (p.His5033Tyr)
c.14466+227C>T (n.14466+227C>T)
c.-609C>T (n.-609C>T)
n.2656C>T
c.15331C>T (p.His5111Tyr)
c.15280C>T (p.His5094Tyr)
c.15259C>T (p.His5087Tyr)
c.15175C>T (p.His5059Tyr)
c.15172C>T (p.His5058Tyr)
c.15166C>T (p.His5056Tyr)
c.13606C>T (p.His4536Tyr)
c.13099C>T (p.His4367Tyr)
c.8566C>T (p.His2856Tyr)
c.15304C>T (p.His5102Tyr)
c.15253C>T (p.His5085Tyr)
n.15814C>T
6g.152326086G>CCA366093143SYNE1c.15310C>G (p.His5104Asp)
c.15097C>G (p.His5033Asp)
c.14466+227C>G (n.14466+227C>G)
c.-609C>G (n.-609C>G)
n.2656C>G
c.15331C>G (p.His5111Asp)
c.15280C>G (p.His5094Asp)
c.15259C>G (p.His5087Asp)
c.15175C>G (p.His5059Asp)
c.15172C>G (p.His5058Asp)
c.15166C>G (p.His5056Asp)
c.13606C>G (p.His4536Asp)
c.13099C>G (p.His4367Asp)
c.8566C>G (p.His2856Asp)
c.15304C>G (p.His5102Asp)
c.15253C>G (p.His5085Asp)
n.15814C>G
6g.152326086G>TCA366093145SYNE1c.15310C>A (p.His5104Asn)
c.15097C>A (p.His5033Asn)
c.14466+227C>A (n.14466+227C>A)
c.-609C>A (n.-609C>A)
n.2656C>A
c.15331C>A (p.His5111Asn)
c.15280C>A (p.His5094Asn)
c.15259C>A (p.His5087Asn)
c.15175C>A (p.His5059Asn)
c.15172C>A (p.His5058Asn)
c.15166C>A (p.His5056Asn)
c.13606C>A (p.His4536Asn)
c.13099C>A (p.His4367Asn)
c.8566C>A (p.His2856Asn)
c.15304C>A (p.His5102Asn)
c.15253C>A (p.His5085Asn)
n.15814C>A
6g.152326087C>ACA366093146SYNE1c.15309G>T (p.Trp5103Cys)
c.15096G>T (p.Trp5032Cys)
c.14466+226G>T (n.14466+226G>T)
c.-610G>T (n.-610G>T)
n.2655G>T
c.15330G>T (p.Trp5110Cys)
c.15279G>T (p.Trp5093Cys)
c.15258G>T (p.Trp5086Cys)
c.15174G>T (p.Trp5058Cys)
c.15171G>T (p.Trp5057Cys)
c.15165G>T (p.Trp5055Cys)
c.13605G>T (p.Trp4535Cys)
c.13098G>T (p.Trp4366Cys)
c.8565G>T (p.Trp2855Cys)
c.15303G>T (p.Trp5101Cys)
c.15252G>T (p.Trp5084Cys)
n.15813G>T
 dbSNP gnomAD v3 gnomAD v4
6g.152326087C>GCA366093148SYNE1c.15309G>C (p.Trp5103Cys)
c.15096G>C (p.Trp5032Cys)
c.14466+226G>C (n.14466+226G>C)
c.-610G>C (n.-610G>C)
n.2655G>C
c.15330G>C (p.Trp5110Cys)
c.15279G>C (p.Trp5093Cys)
c.15258G>C (p.Trp5086Cys)
c.15174G>C (p.Trp5058Cys)
c.15171G>C (p.Trp5057Cys)
c.15165G>C (p.Trp5055Cys)
c.13605G>C (p.Trp4535Cys)
c.13098G>C (p.Trp4366Cys)
c.8565G>C (p.Trp2855Cys)
c.15303G>C (p.Trp5101Cys)
c.15252G>C (p.Trp5084Cys)
n.15813G>C
6g.152326087C>TCA366093151SYNE1c.15309G>A (p.Trp5103Ter)
c.15096G>A (p.Trp5032Ter)
c.14466+226G>A (n.14466+226G>A)
c.-610G>A (n.-610G>A)
n.2655G>A
c.15330G>A (p.Trp5110Ter)
c.15279G>A (p.Trp5093Ter)
c.15258G>A (p.Trp5086Ter)
c.15174G>A (p.Trp5058Ter)
c.15171G>A (p.Trp5057Ter)
c.15165G>A (p.Trp5055Ter)
c.13605G>A (p.Trp4535Ter)
c.13098G>A (p.Trp4366Ter)
c.8565G>A (p.Trp2855Ter)
c.15303G>A (p.Trp5101Ter)
c.15252G>A (p.Trp5084Ter)
n.15813G>A
6g.152326088C>ACA366093154SYNE1c.15308G>T (p.Trp5103Leu)
c.15095G>T (p.Trp5032Leu)
c.14466+225G>T (n.14466+225G>T)
c.-611G>T (n.-611G>T)
n.2654G>T
c.15329G>T (p.Trp5110Leu)
c.15278G>T (p.Trp5093Leu)
c.15257G>T (p.Trp5086Leu)
c.15173G>T (p.Trp5058Leu)
c.15170G>T (p.Trp5057Leu)
c.15164G>T (p.Trp5055Leu)
c.13604G>T (p.Trp4535Leu)
c.13097G>T (p.Trp4366Leu)
c.8564G>T (p.Trp2855Leu)
c.15302G>T (p.Trp5101Leu)
c.15251G>T (p.Trp5084Leu)
n.15812G>T
6g.152326088C>GCA366093156SYNE1c.15308G>C (p.Trp5103Ser)
c.15095G>C (p.Trp5032Ser)
c.14466+225G>C (n.14466+225G>C)
c.-611G>C (n.-611G>C)
n.2654G>C
c.15329G>C (p.Trp5110Ser)
c.15278G>C (p.Trp5093Ser)
c.15257G>C (p.Trp5086Ser)
c.15173G>C (p.Trp5058Ser)
c.15170G>C (p.Trp5057Ser)
c.15164G>C (p.Trp5055Ser)
c.13604G>C (p.Trp4535Ser)
c.13097G>C (p.Trp4366Ser)
c.8564G>C (p.Trp2855Ser)
c.15302G>C (p.Trp5101Ser)
c.15251G>C (p.Trp5084Ser)
n.15812G>C
6g.152326088C>TCA366093158SYNE1c.15308G>A (p.Trp5103Ter)
c.15095G>A (p.Trp5032Ter)
c.14466+225G>A (n.14466+225G>A)
c.-611G>A (n.-611G>A)
n.2654G>A
c.15329G>A (p.Trp5110Ter)
c.15278G>A (p.Trp5093Ter)
c.15257G>A (p.Trp5086Ter)
c.15173G>A (p.Trp5058Ter)
c.15170G>A (p.Trp5057Ter)
c.15164G>A (p.Trp5055Ter)
c.13604G>A (p.Trp4535Ter)
c.13097G>A (p.Trp4366Ter)
c.8564G>A (p.Trp2855Ter)
c.15302G>A (p.Trp5101Ter)
c.15251G>A (p.Trp5084Ter)
n.15812G>A
6g.152326089A>CCA366093164SYNE1c.15307T>G (p.Trp5103Gly)
c.15094T>G (p.Trp5032Gly)
c.14466+224T>G (n.14466+224T>G)
c.-612T>G (n.-612T>G)
n.2653T>G
c.15328T>G (p.Trp5110Gly)
c.15277T>G (p.Trp5093Gly)
c.15256T>G (p.Trp5086Gly)
c.15172T>G (p.Trp5058Gly)
c.15169T>G (p.Trp5057Gly)
c.15163T>G (p.Trp5055Gly)
c.13603T>G (p.Trp4535Gly)
c.13096T>G (p.Trp4366Gly)
c.8563T>G (p.Trp2855Gly)
c.15301T>G (p.Trp5101Gly)
c.15250T>G (p.Trp5084Gly)
n.15811T>G
6g.152326089A>GCA366093167SYNE1c.15307T>C (p.Trp5103Arg)
c.15094T>C (p.Trp5032Arg)
c.14466+224T>C (n.14466+224T>C)
c.-612T>C (n.-612T>C)
n.2653T>C
c.15328T>C (p.Trp5110Arg)
c.15277T>C (p.Trp5093Arg)
c.15256T>C (p.Trp5086Arg)
c.15172T>C (p.Trp5058Arg)
c.15169T>C (p.Trp5057Arg)
c.15163T>C (p.Trp5055Arg)
c.13603T>C (p.Trp4535Arg)
c.13096T>C (p.Trp4366Arg)
c.8563T>C (p.Trp2855Arg)
c.15301T>C (p.Trp5101Arg)
c.15250T>C (p.Trp5084Arg)
n.15811T>C
 gnomAD v4
6g.152326089A>TCA366093163SYNE1c.15307T>A (p.Trp5103Arg)
c.15094T>A (p.Trp5032Arg)
c.14466+224T>A (n.14466+224T>A)
c.-612T>A (n.-612T>A)
n.2653T>A
c.15328T>A (p.Trp5110Arg)
c.15277T>A (p.Trp5093Arg)
c.15256T>A (p.Trp5086Arg)
c.15172T>A (p.Trp5058Arg)
c.15169T>A (p.Trp5057Arg)
c.15163T>A (p.Trp5055Arg)
c.13603T>A (p.Trp4535Arg)
c.13096T>A (p.Trp4366Arg)
c.8563T>A (p.Trp2855Arg)
c.15301T>A (p.Trp5101Arg)
c.15250T>A (p.Trp5084Arg)
n.15811T>A
6g.152326090T>ACA366093177SYNE1c.15306A>T (p.Gln5102His)
c.15093A>T (p.Gln5031His)
c.14466+223A>T (n.14466+223A>T)
c.-613A>T (n.-613A>T)
n.2652A>T
c.15327A>T (p.Gln5109His)
c.15276A>T (p.Gln5092His)
c.15255A>T (p.Gln5085His)
c.15171A>T (p.Gln5057His)
c.15168A>T (p.Gln5056His)
c.15162A>T (p.Gln5054His)
c.13602A>T (p.Gln4534His)
c.13095A>T (p.Gln4365His)
c.8562A>T (p.Gln2854His)
c.15300A>T (p.Gln5100His)
c.15249A>T (p.Gln5083His)
n.15810A>T
6g.152326090T>CCA452748397SYNE1c.15306A>G (p.Gln5102=)
c.15093A>G (p.Gln5031=)
c.14466+223A>G (n.14466+223A>G)
c.-613A>G (n.-613A>G)
n.2652A>G
c.15327A>G (p.Gln5109=)
c.15276A>G (p.Gln5092=)
c.15255A>G (p.Gln5085=)
c.15171A>G (p.Gln5057=)
c.15168A>G (p.Gln5056=)
c.15162A>G (p.Gln5054=)
c.13602A>G (p.Gln4534=)
c.13095A>G (p.Gln4365=)
c.8562A>G (p.Gln2854=)
c.15300A>G (p.Gln5100=)
c.15249A>G (p.Gln5083=)
n.15810A>G
 gnomAD v4
6g.152326090T>GCA366093169SYNE1c.15306A>C (p.Gln5102His)
c.15093A>C (p.Gln5031His)
c.14466+223A>C (n.14466+223A>C)
c.-613A>C (n.-613A>C)
n.2652A>C
c.15327A>C (p.Gln5109His)
c.15276A>C (p.Gln5092His)
c.15255A>C (p.Gln5085His)
c.15171A>C (p.Gln5057His)
c.15168A>C (p.Gln5056His)
c.15162A>C (p.Gln5054His)
c.13602A>C (p.Gln4534His)
c.13095A>C (p.Gln4365His)
c.8562A>C (p.Gln2854His)
c.15300A>C (p.Gln5100His)
c.15249A>C (p.Gln5083His)
n.15810A>C
6g.152326091T>ACA366093180SYNE1c.15305A>T (p.Gln5102Leu)
c.15092A>T (p.Gln5031Leu)
c.14466+222A>T (n.14466+222A>T)
c.-614A>T (n.-614A>T)
n.2651A>T
c.15326A>T (p.Gln5109Leu)
c.15275A>T (p.Gln5092Leu)
c.15254A>T (p.Gln5085Leu)
c.15170A>T (p.Gln5057Leu)
c.15167A>T (p.Gln5056Leu)
c.15161A>T (p.Gln5054Leu)
c.13601A>T (p.Gln4534Leu)
c.13094A>T (p.Gln4365Leu)
c.8561A>T (p.Gln2854Leu)
c.15299A>T (p.Gln5100Leu)
c.15248A>T (p.Gln5083Leu)
n.15809A>T
6g.152326091T>CCA366093182SYNE1c.15305A>G (p.Gln5102Arg)
c.15092A>G (p.Gln5031Arg)
c.14466+222A>G (n.14466+222A>G)
c.-614A>G (n.-614A>G)
n.2651A>G
c.15326A>G (p.Gln5109Arg)
c.15275A>G (p.Gln5092Arg)
c.15254A>G (p.Gln5085Arg)
c.15170A>G (p.Gln5057Arg)
c.15167A>G (p.Gln5056Arg)
c.15161A>G (p.Gln5054Arg)
c.13601A>G (p.Gln4534Arg)
c.13094A>G (p.Gln4365Arg)
c.8561A>G (p.Gln2854Arg)
c.15299A>G (p.Gln5100Arg)
c.15248A>G (p.Gln5083Arg)
n.15809A>G
6g.152326091T>GCA366093183SYNE1c.15305A>C (p.Gln5102Pro)
c.15092A>C (p.Gln5031Pro)
c.14466+222A>C (n.14466+222A>C)
c.-614A>C (n.-614A>C)
n.2651A>C
c.15326A>C (p.Gln5109Pro)
c.15275A>C (p.Gln5092Pro)
c.15254A>C (p.Gln5085Pro)
c.15170A>C (p.Gln5057Pro)
c.15167A>C (p.Gln5056Pro)
c.15161A>C (p.Gln5054Pro)
c.13601A>C (p.Gln4534Pro)
c.13094A>C (p.Gln4365Pro)
c.8561A>C (p.Gln2854Pro)
c.15299A>C (p.Gln5100Pro)
c.15248A>C (p.Gln5083Pro)
n.15809A>C
6g.152326092G>ACA366093184SYNE1c.15304C>T (p.Gln5102Ter)
c.15091C>T (p.Gln5031Ter)
c.14466+221C>T (n.14466+221C>T)
c.-615C>T (n.-615C>T)
n.2650C>T
c.15325C>T (p.Gln5109Ter)
c.15274C>T (p.Gln5092Ter)
c.15253C>T (p.Gln5085Ter)
c.15169C>T (p.Gln5057Ter)
c.15166C>T (p.Gln5056Ter)
c.15160C>T (p.Gln5054Ter)
c.13600C>T (p.Gln4534Ter)
c.13093C>T (p.Gln4365Ter)
c.8560C>T (p.Gln2854Ter)
c.15298C>T (p.Gln5100Ter)
c.15247C>T (p.Gln5083Ter)
n.15808C>T
 ClinVar dbSNP gnomAD v4
6g.152326092G>CCA366093185SYNE1c.15304C>G (p.Gln5102Glu)
c.15091C>G (p.Gln5031Glu)
c.14466+221C>G (n.14466+221C>G)
c.-615C>G (n.-615C>G)
n.2650C>G
c.15325C>G (p.Gln5109Glu)
c.15274C>G (p.Gln5092Glu)
c.15253C>G (p.Gln5085Glu)
c.15169C>G (p.Gln5057Glu)
c.15166C>G (p.Gln5056Glu)
c.15160C>G (p.Gln5054Glu)
c.13600C>G (p.Gln4534Glu)
c.13093C>G (p.Gln4365Glu)
c.8560C>G (p.Gln2854Glu)
c.15298C>G (p.Gln5100Glu)
c.15247C>G (p.Gln5083Glu)
n.15808C>G
 dbSNP gnomAD v2 gnomAD v4
6g.152326092G=CA1673283685SYNE1c.15304C= (p.Gln5102=)
c.15091C= (p.Gln5031=)
c.14466+221C= (n.14466+221C=)
c.-615C= (n.-615C=)
n.2650C=
c.15325C= (p.Gln5109=)
c.15274C= (p.Gln5092=)
c.15253C= (p.Gln5085=)
c.15169C= (p.Gln5057=)
c.15166C= (p.Gln5056=)
c.15160C= (p.Gln5054=)
c.13600C= (p.Gln4534=)
c.13093C= (p.Gln4365=)
c.8560C= (p.Gln2854=)
c.15298C= (p.Gln5100=)
c.15247C= (p.Gln5083=)
n.15808C=
6g.152326092G>TCA366093186SYNE1c.15304C>A (p.Gln5102Lys)
c.15091C>A (p.Gln5031Lys)
c.14466+221C>A (n.14466+221C>A)
c.-615C>A (n.-615C>A)
n.2650C>A
c.15325C>A (p.Gln5109Lys)
c.15274C>A (p.Gln5092Lys)
c.15253C>A (p.Gln5085Lys)
c.15169C>A (p.Gln5057Lys)
c.15166C>A (p.Gln5056Lys)
c.15160C>A (p.Gln5054Lys)
c.13600C>A (p.Gln4534Lys)
c.13093C>A (p.Gln4365Lys)
c.8560C>A (p.Gln2854Lys)
c.15298C>A (p.Gln5100Lys)
c.15247C>A (p.Gln5083Lys)
n.15808C>A
6g.152326093A>CCA452970263SYNE1c.15303T>G (p.Ala5101=)
c.15090T>G (p.Ala5030=)
c.14466+220T>G (n.14466+220T>G)
c.-616T>G (n.-616T>G)
n.2649T>G
c.15324T>G (p.Ala5108=)
c.15273T>G (p.Ala5091=)
c.15252T>G (p.Ala5084=)
c.15168T>G (p.Ala5056=)
c.15165T>G (p.Ala5055=)
c.15159T>G (p.Ala5053=)
c.13599T>G (p.Ala4533=)
c.13092T>G (p.Ala4364=)
c.8559T>G (p.Ala2853=)
c.15297T>G (p.Ala5099=)
c.15246T>G (p.Ala5082=)
n.15807T>G
6g.152326093A>GCA452970264SYNE1c.15303T>C (p.Ala5101=)
c.15090T>C (p.Ala5030=)
c.14466+220T>C (n.14466+220T>C)
c.-616T>C (n.-616T>C)
n.2649T>C
c.15324T>C (p.Ala5108=)
c.15273T>C (p.Ala5091=)
c.15252T>C (p.Ala5084=)
c.15168T>C (p.Ala5056=)
c.15165T>C (p.Ala5055=)
c.15159T>C (p.Ala5053=)
c.13599T>C (p.Ala4533=)
c.13092T>C (p.Ala4364=)
c.8559T>C (p.Ala2853=)
c.15297T>C (p.Ala5099=)
c.15246T>C (p.Ala5082=)
n.15807T>C
6g.152326093A>TCA452970265SYNE1c.15303T>A (p.Ala5101=)
c.15090T>A (p.Ala5030=)
c.14466+220T>A (n.14466+220T>A)
c.-616T>A (n.-616T>A)
n.2649T>A
c.15324T>A (p.Ala5108=)
c.15273T>A (p.Ala5091=)
c.15252T>A (p.Ala5084=)
c.15168T>A (p.Ala5056=)
c.15165T>A (p.Ala5055=)
c.15159T>A (p.Ala5053=)
c.13599T>A (p.Ala4533=)
c.13092T>A (p.Ala4364=)
c.8559T>A (p.Ala2853=)
c.15297T>A (p.Ala5099=)
c.15246T>A (p.Ala5082=)
n.15807T>A
 gnomAD v4
6g.152326094G>ACA366093189SYNE1c.15302C>T (p.Ala5101Val)
c.15089C>T (p.Ala5030Val)
c.14466+219C>T (n.14466+219C>T)
c.-617C>T (n.-617C>T)
n.2648C>T
c.15323C>T (p.Ala5108Val)
c.15272C>T (p.Ala5091Val)
c.15251C>T (p.Ala5084Val)
c.15167C>T (p.Ala5056Val)
c.15164C>T (p.Ala5055Val)
c.15158C>T (p.Ala5053Val)
c.13598C>T (p.Ala4533Val)
c.13091C>T (p.Ala4364Val)
c.8558C>T (p.Ala2853Val)
c.15296C>T (p.Ala5099Val)
c.15245C>T (p.Ala5082Val)
n.15806C>T
6g.152326094G>CCA366093191SYNE1c.15302C>G (p.Ala5101Gly)
c.15089C>G (p.Ala5030Gly)
c.14466+219C>G (n.14466+219C>G)
c.-617C>G (n.-617C>G)
n.2648C>G
c.15323C>G (p.Ala5108Gly)
c.15272C>G (p.Ala5091Gly)
c.15251C>G (p.Ala5084Gly)
c.15167C>G (p.Ala5056Gly)
c.15164C>G (p.Ala5055Gly)
c.15158C>G (p.Ala5053Gly)
c.13598C>G (p.Ala4533Gly)
c.13091C>G (p.Ala4364Gly)
c.8558C>G (p.Ala2853Gly)
c.15296C>G (p.Ala5099Gly)
c.15245C>G (p.Ala5082Gly)
n.15806C>G
6g.152326094G>TCA366093193SYNE1c.15302C>A (p.Ala5101Asp)
c.15089C>A (p.Ala5030Asp)
c.14466+219C>A (n.14466+219C>A)
c.-617C>A (n.-617C>A)
n.2648C>A
c.15323C>A (p.Ala5108Asp)
c.15272C>A (p.Ala5091Asp)
c.15251C>A (p.Ala5084Asp)
c.15167C>A (p.Ala5056Asp)
c.15164C>A (p.Ala5055Asp)
c.15158C>A (p.Ala5053Asp)
c.13598C>A (p.Ala4533Asp)
c.13091C>A (p.Ala4364Asp)
c.8558C>A (p.Ala2853Asp)
c.15296C>A (p.Ala5099Asp)
c.15245C>A (p.Ala5082Asp)
n.15806C>A
6g.152326095C>ACA366093197SYNE1c.15301G>T (p.Ala5101Ser)
c.15088G>T (p.Ala5030Ser)
c.14466+218G>T (n.14466+218G>T)
c.-618G>T (n.-618G>T)
n.2647G>T
c.15322G>T (p.Ala5108Ser)
c.15271G>T (p.Ala5091Ser)
c.15250G>T (p.Ala5084Ser)
c.15166G>T (p.Ala5056Ser)
c.15163G>T (p.Ala5055Ser)
c.15157G>T (p.Ala5053Ser)
c.13597G>T (p.Ala4533Ser)
c.13090G>T (p.Ala4364Ser)
c.8557G>T (p.Ala2853Ser)
c.15295G>T (p.Ala5099Ser)
c.15244G>T (p.Ala5082Ser)
n.15805G>T
6g.152326095C=CA1673283690SYNE1c.15301G= (p.Ala5101=)
c.15088G= (p.Ala5030=)
c.14466+218G= (n.14466+218G=)
c.-618G= (n.-618G=)
n.2647G=
c.15322G= (p.Ala5108=)
c.15271G= (p.Ala5091=)
c.15250G= (p.Ala5084=)
c.15166G= (p.Ala5056=)
c.15163G= (p.Ala5055=)
c.15157G= (p.Ala5053=)
c.13597G= (p.Ala4533=)
c.13090G= (p.Ala4364=)
c.8557G= (p.Ala2853=)
c.15295G= (p.Ala5099=)
c.15244G= (p.Ala5082=)
n.15805G=
6g.152326095C>GCA366093199SYNE1c.15301G>C (p.Ala5101Pro)
c.15088G>C (p.Ala5030Pro)
c.14466+218G>C (n.14466+218G>C)
c.-618G>C (n.-618G>C)
n.2647G>C
c.15322G>C (p.Ala5108Pro)
c.15271G>C (p.Ala5091Pro)
c.15250G>C (p.Ala5084Pro)
c.15166G>C (p.Ala5056Pro)
c.15163G>C (p.Ala5055Pro)
c.15157G>C (p.Ala5053Pro)
c.13597G>C (p.Ala4533Pro)
c.13090G>C (p.Ala4364Pro)
c.8557G>C (p.Ala2853Pro)
c.15295G>C (p.Ala5099Pro)
c.15244G>C (p.Ala5082Pro)
n.15805G>C
 gnomAD v4
6g.152326095C>TCA4055824SYNE1c.15301G>A (p.Ala5101Thr)
c.15088G>A (p.Ala5030Thr)
c.14466+218G>A (n.14466+218G>A)
c.-618G>A (n.-618G>A)
n.2647G>A
c.15322G>A (p.Ala5108Thr)
c.15271G>A (p.Ala5091Thr)
c.15250G>A (p.Ala5084Thr)
c.15166G>A (p.Ala5056Thr)
c.15163G>A (p.Ala5055Thr)
c.15157G>A (p.Ala5053Thr)
c.13597G>A (p.Ala4533Thr)
c.13090G>A (p.Ala4364Thr)
c.8557G>A (p.Ala2853Thr)
c.15295G>A (p.Ala5099Thr)
c.15244G>A (p.Ala5082Thr)
n.15805G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
6g.152326096T>ACA452970268SYNE1c.15300A>T (p.Thr5100=)
c.15087A>T (p.Thr5029=)
c.14466+217A>T (n.14466+217A>T)
c.-619A>T (n.-619A>T)
n.2646A>T
c.15321A>T (p.Thr5107=)
c.15270A>T (p.Thr5090=)
c.15249A>T (p.Thr5083=)
c.15165A>T (p.Thr5055=)
c.15162A>T (p.Thr5054=)
c.15156A>T (p.Thr5052=)
c.13596A>T (p.Thr4532=)
c.13089A>T (p.Thr4363=)
c.8556A>T (p.Thr2852=)
c.15294A>T (p.Thr5098=)
c.15243A>T (p.Thr5081=)
n.15804A>T
6g.152326096T>CCA452970269SYNE1c.15300A>G (p.Thr5100=)
c.15087A>G (p.Thr5029=)
c.14466+217A>G (n.14466+217A>G)
c.-619A>G (n.-619A>G)
n.2646A>G
c.15321A>G (p.Thr5107=)
c.15270A>G (p.Thr5090=)
c.15249A>G (p.Thr5083=)
c.15165A>G (p.Thr5055=)
c.15162A>G (p.Thr5054=)
c.15156A>G (p.Thr5052=)
c.13596A>G (p.Thr4532=)
c.13089A>G (p.Thr4363=)
c.8556A>G (p.Thr2852=)
c.15294A>G (p.Thr5098=)
c.15243A>G (p.Thr5081=)
n.15804A>G
6g.152326096T>GCA452970270SYNE1c.15300A>C (p.Thr5100=)
c.15087A>C (p.Thr5029=)
c.14466+217A>C (n.14466+217A>C)
c.-619A>C (n.-619A>C)
n.2646A>C
c.15321A>C (p.Thr5107=)
c.15270A>C (p.Thr5090=)
c.15249A>C (p.Thr5083=)
c.15165A>C (p.Thr5055=)
c.15162A>C (p.Thr5054=)
c.15156A>C (p.Thr5052=)
c.13596A>C (p.Thr4532=)
c.13089A>C (p.Thr4363=)
c.8556A>C (p.Thr2852=)
c.15294A>C (p.Thr5098=)
c.15243A>C (p.Thr5081=)
n.15804A>C
6g.152326097G>ACA366093205SYNE1c.15299C>T (p.Thr5100Ile)
c.15086C>T (p.Thr5029Ile)
c.14466+216C>T (n.14466+216C>T)
c.-620C>T (n.-620C>T)
n.2645C>T
c.15320C>T (p.Thr5107Ile)
c.15269C>T (p.Thr5090Ile)
c.15248C>T (p.Thr5083Ile)
c.15164C>T (p.Thr5055Ile)
c.15161C>T (p.Thr5054Ile)
c.15155C>T (p.Thr5052Ile)
c.13595C>T (p.Thr4532Ile)
c.13088C>T (p.Thr4363Ile)
c.8555C>T (p.Thr2852Ile)
c.15293C>T (p.Thr5098Ile)
c.15242C>T (p.Thr5081Ile)
n.15803C>T
 dbSNP gnomAD v4
6g.152326097G>CCA366093210SYNE1c.15299C>G (p.Thr5100Arg)
c.15086C>G (p.Thr5029Arg)
c.14466+216C>G (n.14466+216C>G)
c.-620C>G (n.-620C>G)
n.2645C>G
c.15320C>G (p.Thr5107Arg)
c.15269C>G (p.Thr5090Arg)
c.15248C>G (p.Thr5083Arg)
c.15164C>G (p.Thr5055Arg)
c.15161C>G (p.Thr5054Arg)
c.15155C>G (p.Thr5052Arg)
c.13595C>G (p.Thr4532Arg)
c.13088C>G (p.Thr4363Arg)
c.8555C>G (p.Thr2852Arg)
c.15293C>G (p.Thr5098Arg)
c.15242C>G (p.Thr5081Arg)
n.15803C>G
6g.152326097G=CA1673283704SYNE1c.15299C= (p.Thr5100=)
c.15086C= (p.Thr5029=)
c.14466+216C= (n.14466+216C=)
c.-620C= (n.-620C=)
n.2645C=
c.15320C= (p.Thr5107=)
c.15269C= (p.Thr5090=)
c.15248C= (p.Thr5083=)
c.15164C= (p.Thr5055=)
c.15161C= (p.Thr5054=)
c.15155C= (p.Thr5052=)
c.13595C= (p.Thr4532=)
c.13088C= (p.Thr4363=)
c.8555C= (p.Thr2852=)
c.15293C= (p.Thr5098=)
c.15242C= (p.Thr5081=)
n.15803C=
6g.152326097G>TCA366093207SYNE1c.15299C>A (p.Thr5100Lys)
c.15086C>A (p.Thr5029Lys)
c.14466+216C>A (n.14466+216C>A)
c.-620C>A (n.-620C>A)
n.2645C>A
c.15320C>A (p.Thr5107Lys)
c.15269C>A (p.Thr5090Lys)
c.15248C>A (p.Thr5083Lys)
c.15164C>A (p.Thr5055Lys)
c.15161C>A (p.Thr5054Lys)
c.15155C>A (p.Thr5052Lys)
c.13595C>A (p.Thr4532Lys)
c.13088C>A (p.Thr4363Lys)
c.8555C>A (p.Thr2852Lys)
c.15293C>A (p.Thr5098Lys)
c.15242C>A (p.Thr5081Lys)
n.15803C>A

Number of alleles fetched