Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152325983G>ACA4055800SYNE1c.15413C>T (p.Ala5138Val)
c.15200C>T (p.Ala5067Val)
c.14466+330C>T (n.14466+330C>T)
c.-506C>T (n.-506C>T)
n.2759C>T
c.15434C>T (p.Ala5145Val)
c.15383C>T (p.Ala5128Val)
c.15362C>T (p.Ala5121Val)
c.15278C>T (p.Ala5093Val)
c.15275C>T (p.Ala5092Val)
c.15269C>T (p.Ala5090Val)
c.13709C>T (p.Ala4570Val)
c.13202C>T (p.Ala4401Val)
c.8669C>T (p.Ala2890Val)
c.15407C>T (p.Ala5136Val)
c.15356C>T (p.Ala5119Val)
n.15917C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152325983G>CCA366092415SYNE1c.15413C>G (p.Ala5138Gly)
c.15200C>G (p.Ala5067Gly)
c.14466+330C>G (n.14466+330C>G)
c.-506C>G (n.-506C>G)
n.2759C>G
c.15434C>G (p.Ala5145Gly)
c.15383C>G (p.Ala5128Gly)
c.15362C>G (p.Ala5121Gly)
c.15278C>G (p.Ala5093Gly)
c.15275C>G (p.Ala5092Gly)
c.15269C>G (p.Ala5090Gly)
c.13709C>G (p.Ala4570Gly)
c.13202C>G (p.Ala4401Gly)
c.8669C>G (p.Ala2890Gly)
c.15407C>G (p.Ala5136Gly)
c.15356C>G (p.Ala5119Gly)
n.15917C>G
6g.152325983G=CA1673283423SYNE1c.15413C= (p.Ala5138=)
c.15200C= (p.Ala5067=)
c.14466+330C= (n.14466+330C=)
c.-506C= (n.-506C=)
n.2759C=
c.15434C= (p.Ala5145=)
c.15383C= (p.Ala5128=)
c.15362C= (p.Ala5121=)
c.15278C= (p.Ala5093=)
c.15275C= (p.Ala5092=)
c.15269C= (p.Ala5090=)
c.13709C= (p.Ala4570=)
c.13202C= (p.Ala4401=)
c.8669C= (p.Ala2890=)
c.15407C= (p.Ala5136=)
c.15356C= (p.Ala5119=)
n.15917C=
6g.152325983G>TCA150171537SYNE1c.15413C>A (p.Ala5138Glu)
c.15200C>A (p.Ala5067Glu)
c.14466+330C>A (n.14466+330C>A)
c.-506C>A (n.-506C>A)
n.2759C>A
c.15434C>A (p.Ala5145Glu)
c.15383C>A (p.Ala5128Glu)
c.15362C>A (p.Ala5121Glu)
c.15278C>A (p.Ala5093Glu)
c.15275C>A (p.Ala5092Glu)
c.15269C>A (p.Ala5090Glu)
c.13709C>A (p.Ala4570Glu)
c.13202C>A (p.Ala4401Glu)
c.8669C>A (p.Ala2890Glu)
c.15407C>A (p.Ala5136Glu)
c.15356C>A (p.Ala5119Glu)
n.15917C>A
 dbSNP gnomAD v4
6g.152325984C>ACA366092422SYNE1c.15412G>T (p.Ala5138Ser)
c.15199G>T (p.Ala5067Ser)
c.14466+329G>T (n.14466+329G>T)
c.-507G>T (n.-507G>T)
n.2758G>T
c.15433G>T (p.Ala5145Ser)
c.15382G>T (p.Ala5128Ser)
c.15361G>T (p.Ala5121Ser)
c.15277G>T (p.Ala5093Ser)
c.15274G>T (p.Ala5092Ser)
c.15268G>T (p.Ala5090Ser)
c.13708G>T (p.Ala4570Ser)
c.13201G>T (p.Ala4401Ser)
c.8668G>T (p.Ala2890Ser)
c.15406G>T (p.Ala5136Ser)
c.15355G>T (p.Ala5119Ser)
n.15916G>T
6g.152325984C=CA1673283434SYNE1c.15412G= (p.Ala5138=)
c.15199G= (p.Ala5067=)
c.14466+329G= (n.14466+329G=)
c.-507G= (n.-507G=)
n.2758G=
c.15433G= (p.Ala5145=)
c.15382G= (p.Ala5128=)
c.15361G= (p.Ala5121=)
c.15277G= (p.Ala5093=)
c.15274G= (p.Ala5092=)
c.15268G= (p.Ala5090=)
c.13708G= (p.Ala4570=)
c.13201G= (p.Ala4401=)
c.8668G= (p.Ala2890=)
c.15406G= (p.Ala5136=)
c.15355G= (p.Ala5119=)
n.15916G=
6g.152325984C>GCA366092424SYNE1c.15412G>C (p.Ala5138Pro)
c.15199G>C (p.Ala5067Pro)
c.14466+329G>C (n.14466+329G>C)
c.-507G>C (n.-507G>C)
n.2758G>C
c.15433G>C (p.Ala5145Pro)
c.15382G>C (p.Ala5128Pro)
c.15361G>C (p.Ala5121Pro)
c.15277G>C (p.Ala5093Pro)
c.15274G>C (p.Ala5092Pro)
c.15268G>C (p.Ala5090Pro)
c.13708G>C (p.Ala4570Pro)
c.13201G>C (p.Ala4401Pro)
c.8668G>C (p.Ala2890Pro)
c.15406G>C (p.Ala5136Pro)
c.15355G>C (p.Ala5119Pro)
n.15916G>C
6g.152325984C>TCA366092426SYNE1c.15412G>A (p.Ala5138Thr)
c.15199G>A (p.Ala5067Thr)
c.14466+329G>A (n.14466+329G>A)
c.-507G>A (n.-507G>A)
n.2758G>A
c.15433G>A (p.Ala5145Thr)
c.15382G>A (p.Ala5128Thr)
c.15361G>A (p.Ala5121Thr)
c.15277G>A (p.Ala5093Thr)
c.15274G>A (p.Ala5092Thr)
c.15268G>A (p.Ala5090Thr)
c.13708G>A (p.Ala4570Thr)
c.13201G>A (p.Ala4401Thr)
c.8668G>A (p.Ala2890Thr)
c.15406G>A (p.Ala5136Thr)
c.15355G>A (p.Ala5119Thr)
n.15916G>A
 dbSNP gnomAD v3 gnomAD v4
6g.152325985T>ACA366092429SYNE1c.15411A>T (p.Glu5137Asp)
c.15198A>T (p.Glu5066Asp)
c.14466+328A>T (n.14466+328A>T)
c.-508A>T (n.-508A>T)
n.2757A>T
c.15432A>T (p.Glu5144Asp)
c.15381A>T (p.Glu5127Asp)
c.15360A>T (p.Glu5120Asp)
c.15276A>T (p.Glu5092Asp)
c.15273A>T (p.Glu5091Asp)
c.15267A>T (p.Glu5089Asp)
c.13707A>T (p.Glu4569Asp)
c.13200A>T (p.Glu4400Asp)
c.8667A>T (p.Glu2889Asp)
c.15405A>T (p.Glu5135Asp)
c.15354A>T (p.Glu5118Asp)
n.15915A>T
6g.152325985T>CCA452748284SYNE1c.15411A>G (p.Glu5137=)
c.15198A>G (p.Glu5066=)
c.14466+328A>G (n.14466+328A>G)
c.-508A>G (n.-508A>G)
n.2757A>G
c.15432A>G (p.Glu5144=)
c.15381A>G (p.Glu5127=)
c.15360A>G (p.Glu5120=)
c.15276A>G (p.Glu5092=)
c.15273A>G (p.Glu5091=)
c.15267A>G (p.Glu5089=)
c.13707A>G (p.Glu4569=)
c.13200A>G (p.Glu4400=)
c.8667A>G (p.Glu2889=)
c.15405A>G (p.Glu5135=)
c.15354A>G (p.Glu5118=)
n.15915A>G
6g.152325985T>GCA366092430SYNE1c.15411A>C (p.Glu5137Asp)
c.15198A>C (p.Glu5066Asp)
c.14466+328A>C (n.14466+328A>C)
c.-508A>C (n.-508A>C)
n.2757A>C
c.15432A>C (p.Glu5144Asp)
c.15381A>C (p.Glu5127Asp)
c.15360A>C (p.Glu5120Asp)
c.15276A>C (p.Glu5092Asp)
c.15273A>C (p.Glu5091Asp)
c.15267A>C (p.Glu5089Asp)
c.13707A>C (p.Glu4569Asp)
c.13200A>C (p.Glu4400Asp)
c.8667A>C (p.Glu2889Asp)
c.15405A>C (p.Glu5135Asp)
c.15354A>C (p.Glu5118Asp)
n.15915A>C
6g.152325986T>ACA366092432SYNE1c.15410A>T (p.Glu5137Val)
c.15197A>T (p.Glu5066Val)
c.14466+327A>T (n.14466+327A>T)
c.-509A>T (n.-509A>T)
n.2756A>T
c.15431A>T (p.Glu5144Val)
c.15380A>T (p.Glu5127Val)
c.15359A>T (p.Glu5120Val)
c.15275A>T (p.Glu5092Val)
c.15272A>T (p.Glu5091Val)
c.15266A>T (p.Glu5089Val)
c.13706A>T (p.Glu4569Val)
c.13199A>T (p.Glu4400Val)
c.8666A>T (p.Glu2889Val)
c.15404A>T (p.Glu5135Val)
c.15353A>T (p.Glu5118Val)
n.15914A>T
6g.152325986T>CCA366092434SYNE1c.15410A>G (p.Glu5137Gly)
c.15197A>G (p.Glu5066Gly)
c.14466+327A>G (n.14466+327A>G)
c.-509A>G (n.-509A>G)
n.2756A>G
c.15431A>G (p.Glu5144Gly)
c.15380A>G (p.Glu5127Gly)
c.15359A>G (p.Glu5120Gly)
c.15275A>G (p.Glu5092Gly)
c.15272A>G (p.Glu5091Gly)
c.15266A>G (p.Glu5089Gly)
c.13706A>G (p.Glu4569Gly)
c.13199A>G (p.Glu4400Gly)
c.8666A>G (p.Glu2889Gly)
c.15404A>G (p.Glu5135Gly)
c.15353A>G (p.Glu5118Gly)
n.15914A>G
6g.152325986T>GCA366092436SYNE1c.15410A>C (p.Glu5137Ala)
c.15197A>C (p.Glu5066Ala)
c.14466+327A>C (n.14466+327A>C)
c.-509A>C (n.-509A>C)
n.2756A>C
c.15431A>C (p.Glu5144Ala)
c.15380A>C (p.Glu5127Ala)
c.15359A>C (p.Glu5120Ala)
c.15275A>C (p.Glu5092Ala)
c.15272A>C (p.Glu5091Ala)
c.15266A>C (p.Glu5089Ala)
c.13706A>C (p.Glu4569Ala)
c.13199A>C (p.Glu4400Ala)
c.8666A>C (p.Glu2889Ala)
c.15404A>C (p.Glu5135Ala)
c.15353A>C (p.Glu5118Ala)
n.15914A>C
6g.152325987C>ACA366092439SYNE1c.15409G>T (p.Glu5137Ter)
c.15196G>T (p.Glu5066Ter)
c.14466+326G>T (n.14466+326G>T)
c.-510G>T (n.-510G>T)
n.2755G>T
c.15430G>T (p.Glu5144Ter)
c.15379G>T (p.Glu5127Ter)
c.15358G>T (p.Glu5120Ter)
c.15274G>T (p.Glu5092Ter)
c.15271G>T (p.Glu5091Ter)
c.15265G>T (p.Glu5089Ter)
c.13705G>T (p.Glu4569Ter)
c.13198G>T (p.Glu4400Ter)
c.8665G>T (p.Glu2889Ter)
c.15403G>T (p.Glu5135Ter)
c.15352G>T (p.Glu5118Ter)
n.15913G>T
6g.152325987C>GCA366092442SYNE1c.15409G>C (p.Glu5137Gln)
c.15196G>C (p.Glu5066Gln)
c.14466+326G>C (n.14466+326G>C)
c.-510G>C (n.-510G>C)
n.2755G>C
c.15430G>C (p.Glu5144Gln)
c.15379G>C (p.Glu5127Gln)
c.15358G>C (p.Glu5120Gln)
c.15274G>C (p.Glu5092Gln)
c.15271G>C (p.Glu5091Gln)
c.15265G>C (p.Glu5089Gln)
c.13705G>C (p.Glu4569Gln)
c.13198G>C (p.Glu4400Gln)
c.8665G>C (p.Glu2889Gln)
c.15403G>C (p.Glu5135Gln)
c.15352G>C (p.Glu5118Gln)
n.15913G>C
6g.152325987C>TCA366092454SYNE1c.15409G>A (p.Glu5137Lys)
c.15196G>A (p.Glu5066Lys)
c.14466+326G>A (n.14466+326G>A)
c.-510G>A (n.-510G>A)
n.2755G>A
c.15430G>A (p.Glu5144Lys)
c.15379G>A (p.Glu5127Lys)
c.15358G>A (p.Glu5120Lys)
c.15274G>A (p.Glu5092Lys)
c.15271G>A (p.Glu5091Lys)
c.15265G>A (p.Glu5089Lys)
c.13705G>A (p.Glu4569Lys)
c.13198G>A (p.Glu4400Lys)
c.8665G>A (p.Glu2889Lys)
c.15403G>A (p.Glu5135Lys)
c.15352G>A (p.Glu5118Lys)
n.15913G>A
6g.152325988A=CA1673283438SYNE1c.15408T= (p.His5136=)
c.15195T= (p.His5065=)
c.14466+325T= (n.14466+325T=)
c.-511T= (n.-511T=)
n.2754T=
c.15429T= (p.His5143=)
c.15378T= (p.His5126=)
c.15357T= (p.His5119=)
c.15273T= (p.His5091=)
c.15270T= (p.His5090=)
c.15264T= (p.His5088=)
c.13704T= (p.His4568=)
c.13197T= (p.His4399=)
c.8664T= (p.His2888=)
c.15402T= (p.His5134=)
c.15351T= (p.His5117=)
n.15912T=
6g.152325988A>CCA366092459SYNE1c.15408T>G (p.His5136Gln)
c.15195T>G (p.His5065Gln)
c.14466+325T>G (n.14466+325T>G)
c.-511T>G (n.-511T>G)
n.2754T>G
c.15429T>G (p.His5143Gln)
c.15378T>G (p.His5126Gln)
c.15357T>G (p.His5119Gln)
c.15273T>G (p.His5091Gln)
c.15270T>G (p.His5090Gln)
c.15264T>G (p.His5088Gln)
c.13704T>G (p.His4568Gln)
c.13197T>G (p.His4399Gln)
c.8664T>G (p.His2888Gln)
c.15402T>G (p.His5134Gln)
c.15351T>G (p.His5117Gln)
n.15912T>G
6g.152325988A>GCA4055801SYNE1c.15408T>C (p.His5136=)
c.15195T>C (p.His5065=)
c.14466+325T>C (n.14466+325T>C)
c.-511T>C (n.-511T>C)
n.2754T>C
c.15429T>C (p.His5143=)
c.15378T>C (p.His5126=)
c.15357T>C (p.His5119=)
c.15273T>C (p.His5091=)
c.15270T>C (p.His5090=)
c.15264T>C (p.His5088=)
c.13704T>C (p.His4568=)
c.13197T>C (p.His4399=)
c.8664T>C (p.His2888=)
c.15402T>C (p.His5134=)
c.15351T>C (p.His5117=)
n.15912T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152325988A>TCA366092458SYNE1c.15408T>A (p.His5136Gln)
c.15195T>A (p.His5065Gln)
c.14466+325T>A (n.14466+325T>A)
c.-511T>A (n.-511T>A)
n.2754T>A
c.15429T>A (p.His5143Gln)
c.15378T>A (p.His5126Gln)
c.15357T>A (p.His5119Gln)
c.15273T>A (p.His5091Gln)
c.15270T>A (p.His5090Gln)
c.15264T>A (p.His5088Gln)
c.13704T>A (p.His4568Gln)
c.13197T>A (p.His4399Gln)
c.8664T>A (p.His2888Gln)
c.15402T>A (p.His5134Gln)
c.15351T>A (p.His5117Gln)
n.15912T>A
 gnomAD v4
6g.152325989T>ACA366092463SYNE1c.15407A>T (p.His5136Leu)
c.15194A>T (p.His5065Leu)
c.14466+324A>T (n.14466+324A>T)
c.-512A>T (n.-512A>T)
n.2753A>T
c.15428A>T (p.His5143Leu)
c.15377A>T (p.His5126Leu)
c.15356A>T (p.His5119Leu)
c.15272A>T (p.His5091Leu)
c.15269A>T (p.His5090Leu)
c.15263A>T (p.His5088Leu)
c.13703A>T (p.His4568Leu)
c.13196A>T (p.His4399Leu)
c.8663A>T (p.His2888Leu)
c.15401A>T (p.His5134Leu)
c.15350A>T (p.His5117Leu)
n.15911A>T
6g.152325989T>CCA366092460SYNE1c.15407A>G (p.His5136Arg)
c.15194A>G (p.His5065Arg)
c.14466+324A>G (n.14466+324A>G)
c.-512A>G (n.-512A>G)
n.2753A>G
c.15428A>G (p.His5143Arg)
c.15377A>G (p.His5126Arg)
c.15356A>G (p.His5119Arg)
c.15272A>G (p.His5091Arg)
c.15269A>G (p.His5090Arg)
c.15263A>G (p.His5088Arg)
c.13703A>G (p.His4568Arg)
c.13196A>G (p.His4399Arg)
c.8663A>G (p.His2888Arg)
c.15401A>G (p.His5134Arg)
c.15350A>G (p.His5117Arg)
n.15911A>G
6g.152325989T>GCA366092461SYNE1c.15407A>C (p.His5136Pro)
c.15194A>C (p.His5065Pro)
c.14466+324A>C (n.14466+324A>C)
c.-512A>C (n.-512A>C)
n.2753A>C
c.15428A>C (p.His5143Pro)
c.15377A>C (p.His5126Pro)
c.15356A>C (p.His5119Pro)
c.15272A>C (p.His5091Pro)
c.15269A>C (p.His5090Pro)
c.15263A>C (p.His5088Pro)
c.13703A>C (p.His4568Pro)
c.13196A>C (p.His4399Pro)
c.8663A>C (p.His2888Pro)
c.15401A>C (p.His5134Pro)
c.15350A>C (p.His5117Pro)
n.15911A>C
6g.152325990G>ACA366092466SYNE1c.15406C>T (p.His5136Tyr)
c.15193C>T (p.His5065Tyr)
c.14466+323C>T (n.14466+323C>T)
c.-513C>T (n.-513C>T)
n.2752C>T
c.15427C>T (p.His5143Tyr)
c.15376C>T (p.His5126Tyr)
c.15355C>T (p.His5119Tyr)
c.15271C>T (p.His5091Tyr)
c.15268C>T (p.His5090Tyr)
c.15262C>T (p.His5088Tyr)
c.13702C>T (p.His4568Tyr)
c.13195C>T (p.His4399Tyr)
c.8662C>T (p.His2888Tyr)
c.15400C>T (p.His5134Tyr)
c.15349C>T (p.His5117Tyr)
n.15910C>T
6g.152325990G>CCA366092470SYNE1c.15406C>G (p.His5136Asp)
c.15193C>G (p.His5065Asp)
c.14466+323C>G (n.14466+323C>G)
c.-513C>G (n.-513C>G)
n.2752C>G
c.15427C>G (p.His5143Asp)
c.15376C>G (p.His5126Asp)
c.15355C>G (p.His5119Asp)
c.15271C>G (p.His5091Asp)
c.15268C>G (p.His5090Asp)
c.15262C>G (p.His5088Asp)
c.13702C>G (p.His4568Asp)
c.13195C>G (p.His4399Asp)
c.8662C>G (p.His2888Asp)
c.15400C>G (p.His5134Asp)
c.15349C>G (p.His5117Asp)
n.15910C>G
6g.152325990G>TCA366092473SYNE1c.15406C>A (p.His5136Asn)
c.15193C>A (p.His5065Asn)
c.14466+323C>A (n.14466+323C>A)
c.-513C>A (n.-513C>A)
n.2752C>A
c.15427C>A (p.His5143Asn)
c.15376C>A (p.His5126Asn)
c.15355C>A (p.His5119Asn)
c.15271C>A (p.His5091Asn)
c.15268C>A (p.His5090Asn)
c.15262C>A (p.His5088Asn)
c.13702C>A (p.His4568Asn)
c.13195C>A (p.His4399Asn)
c.8662C>A (p.His2888Asn)
c.15400C>A (p.His5134Asn)
c.15349C>A (p.His5117Asn)
n.15910C>A
6g.152325991A>CCA366092479SYNE1c.15405T>G (p.Ser5135Arg)
c.15192T>G (p.Ser5064Arg)
c.14466+322T>G (n.14466+322T>G)
c.-514T>G (n.-514T>G)
n.2751T>G
c.15426T>G (p.Ser5142Arg)
c.15375T>G (p.Ser5125Arg)
c.15354T>G (p.Ser5118Arg)
c.15270T>G (p.Ser5090Arg)
c.15267T>G (p.Ser5089Arg)
c.15261T>G (p.Ser5087Arg)
c.13701T>G (p.Ser4567Arg)
c.13194T>G (p.Ser4398Arg)
c.8661T>G (p.Ser2887Arg)
c.15399T>G (p.Ser5133Arg)
c.15348T>G (p.Ser5116Arg)
n.15909T>G
6g.152325991A>GCA452748289SYNE1c.15405T>C (p.Ser5135=)
c.15192T>C (p.Ser5064=)
c.14466+322T>C (n.14466+322T>C)
c.-514T>C (n.-514T>C)
n.2751T>C
c.15426T>C (p.Ser5142=)
c.15375T>C (p.Ser5125=)
c.15354T>C (p.Ser5118=)
c.15270T>C (p.Ser5090=)
c.15267T>C (p.Ser5089=)
c.15261T>C (p.Ser5087=)
c.13701T>C (p.Ser4567=)
c.13194T>C (p.Ser4398=)
c.8661T>C (p.Ser2887=)
c.15399T>C (p.Ser5133=)
c.15348T>C (p.Ser5116=)
n.15909T>C
6g.152325991A>TCA366092480SYNE1c.15405T>A (p.Ser5135Arg)
c.15192T>A (p.Ser5064Arg)
c.14466+322T>A (n.14466+322T>A)
c.-514T>A (n.-514T>A)
n.2751T>A
c.15426T>A (p.Ser5142Arg)
c.15375T>A (p.Ser5125Arg)
c.15354T>A (p.Ser5118Arg)
c.15270T>A (p.Ser5090Arg)
c.15267T>A (p.Ser5089Arg)
c.15261T>A (p.Ser5087Arg)
c.13701T>A (p.Ser4567Arg)
c.13194T>A (p.Ser4398Arg)
c.8661T>A (p.Ser2887Arg)
c.15399T>A (p.Ser5133Arg)
c.15348T>A (p.Ser5116Arg)
n.15909T>A
6g.152325992C>ACA366092485SYNE1c.15404G>T (p.Ser5135Ile)
c.15191G>T (p.Ser5064Ile)
c.14466+321G>T (n.14466+321G>T)
c.-515G>T (n.-515G>T)
n.2750G>T
c.15425G>T (p.Ser5142Ile)
c.15374G>T (p.Ser5125Ile)
c.15353G>T (p.Ser5118Ile)
c.15269G>T (p.Ser5090Ile)
c.15266G>T (p.Ser5089Ile)
c.15260G>T (p.Ser5087Ile)
c.13700G>T (p.Ser4567Ile)
c.13193G>T (p.Ser4398Ile)
c.8660G>T (p.Ser2887Ile)
c.15398G>T (p.Ser5133Ile)
c.15347G>T (p.Ser5116Ile)
n.15908G>T
6g.152325992C>GCA366092501SYNE1c.15404G>C (p.Ser5135Thr)
c.15191G>C (p.Ser5064Thr)
c.14466+321G>C (n.14466+321G>C)
c.-515G>C (n.-515G>C)
n.2750G>C
c.15425G>C (p.Ser5142Thr)
c.15374G>C (p.Ser5125Thr)
c.15353G>C (p.Ser5118Thr)
c.15269G>C (p.Ser5090Thr)
c.15266G>C (p.Ser5089Thr)
c.15260G>C (p.Ser5087Thr)
c.13700G>C (p.Ser4567Thr)
c.13193G>C (p.Ser4398Thr)
c.8660G>C (p.Ser2887Thr)
c.15398G>C (p.Ser5133Thr)
c.15347G>C (p.Ser5116Thr)
n.15908G>C
6g.152325992C>TCA366092502SYNE1c.15404G>A (p.Ser5135Asn)
c.15191G>A (p.Ser5064Asn)
c.14466+321G>A (n.14466+321G>A)
c.-515G>A (n.-515G>A)
n.2750G>A
c.15425G>A (p.Ser5142Asn)
c.15374G>A (p.Ser5125Asn)
c.15353G>A (p.Ser5118Asn)
c.15269G>A (p.Ser5090Asn)
c.15266G>A (p.Ser5089Asn)
c.15260G>A (p.Ser5087Asn)
c.13700G>A (p.Ser4567Asn)
c.13193G>A (p.Ser4398Asn)
c.8660G>A (p.Ser2887Asn)
c.15398G>A (p.Ser5133Asn)
c.15347G>A (p.Ser5116Asn)
n.15908G>A
6g.152325993T>ACA366092507SYNE1c.15403A>T (p.Ser5135Cys)
c.15190A>T (p.Ser5064Cys)
c.14466+320A>T (n.14466+320A>T)
c.-516A>T (n.-516A>T)
n.2749A>T
c.15424A>T (p.Ser5142Cys)
c.15373A>T (p.Ser5125Cys)
c.15352A>T (p.Ser5118Cys)
c.15268A>T (p.Ser5090Cys)
c.15265A>T (p.Ser5089Cys)
c.15259A>T (p.Ser5087Cys)
c.13699A>T (p.Ser4567Cys)
c.13192A>T (p.Ser4398Cys)
c.8659A>T (p.Ser2887Cys)
c.15397A>T (p.Ser5133Cys)
c.15346A>T (p.Ser5116Cys)
n.15907A>T
6g.152325993T>CCA366092514SYNE1c.15403A>G (p.Ser5135Gly)
c.15190A>G (p.Ser5064Gly)
c.14466+320A>G (n.14466+320A>G)
c.-516A>G (n.-516A>G)
n.2749A>G
c.15424A>G (p.Ser5142Gly)
c.15373A>G (p.Ser5125Gly)
c.15352A>G (p.Ser5118Gly)
c.15268A>G (p.Ser5090Gly)
c.15265A>G (p.Ser5089Gly)
c.15259A>G (p.Ser5087Gly)
c.13699A>G (p.Ser4567Gly)
c.13192A>G (p.Ser4398Gly)
c.8659A>G (p.Ser2887Gly)
c.15397A>G (p.Ser5133Gly)
c.15346A>G (p.Ser5116Gly)
n.15907A>G
6g.152325993T>GCA366092517SYNE1c.15403A>C (p.Ser5135Arg)
c.15190A>C (p.Ser5064Arg)
c.14466+320A>C (n.14466+320A>C)
c.-516A>C (n.-516A>C)
n.2749A>C
c.15424A>C (p.Ser5142Arg)
c.15373A>C (p.Ser5125Arg)
c.15352A>C (p.Ser5118Arg)
c.15268A>C (p.Ser5090Arg)
c.15265A>C (p.Ser5089Arg)
c.15259A>C (p.Ser5087Arg)
c.13699A>C (p.Ser4567Arg)
c.13192A>C (p.Ser4398Arg)
c.8659A>C (p.Ser2887Arg)
c.15397A>C (p.Ser5133Arg)
c.15346A>C (p.Ser5116Arg)
n.15907A>C
 gnomAD v4
6g.152325994A=CA1673283446SYNE1c.15402T= (p.Ser5134=)
c.15189T= (p.Ser5063=)
c.14466+319T= (n.14466+319T=)
c.-517T= (n.-517T=)
n.2748T=
c.15423T= (p.Ser5141=)
c.15372T= (p.Ser5124=)
c.15351T= (p.Ser5117=)
c.15267T= (p.Ser5089=)
c.15264T= (p.Ser5088=)
c.15258T= (p.Ser5086=)
c.13698T= (p.Ser4566=)
c.13191T= (p.Ser4397=)
c.8658T= (p.Ser2886=)
c.15396T= (p.Ser5132=)
c.15345T= (p.Ser5115=)
n.15906T=
6g.152325994A>CCA452748292SYNE1c.15402T>G (p.Ser5134=)
c.15189T>G (p.Ser5063=)
c.14466+319T>G (n.14466+319T>G)
c.-517T>G (n.-517T>G)
n.2748T>G
c.15423T>G (p.Ser5141=)
c.15372T>G (p.Ser5124=)
c.15351T>G (p.Ser5117=)
c.15267T>G (p.Ser5089=)
c.15264T>G (p.Ser5088=)
c.15258T>G (p.Ser5086=)
c.13698T>G (p.Ser4566=)
c.13191T>G (p.Ser4397=)
c.8658T>G (p.Ser2886=)
c.15396T>G (p.Ser5132=)
c.15345T>G (p.Ser5115=)
n.15906T>G
6g.152325994A>GCA452748293SYNE1c.15402T>C (p.Ser5134=)
c.15189T>C (p.Ser5063=)
c.14466+319T>C (n.14466+319T>C)
c.-517T>C (n.-517T>C)
n.2748T>C
c.15423T>C (p.Ser5141=)
c.15372T>C (p.Ser5124=)
c.15351T>C (p.Ser5117=)
c.15267T>C (p.Ser5089=)
c.15264T>C (p.Ser5088=)
c.15258T>C (p.Ser5086=)
c.13698T>C (p.Ser4566=)
c.13191T>C (p.Ser4397=)
c.8658T>C (p.Ser2886=)
c.15396T>C (p.Ser5132=)
c.15345T>C (p.Ser5115=)
n.15906T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152325994A>TCA452748291SYNE1c.15402T>A (p.Ser5134=)
c.15189T>A (p.Ser5063=)
c.14466+319T>A (n.14466+319T>A)
c.-517T>A (n.-517T>A)
n.2748T>A
c.15423T>A (p.Ser5141=)
c.15372T>A (p.Ser5124=)
c.15351T>A (p.Ser5117=)
c.15267T>A (p.Ser5089=)
c.15264T>A (p.Ser5088=)
c.15258T>A (p.Ser5086=)
c.13698T>A (p.Ser4566=)
c.13191T>A (p.Ser4397=)
c.8658T>A (p.Ser2886=)
c.15396T>A (p.Ser5132=)
c.15345T>A (p.Ser5115=)
n.15906T>A
6g.152325995G>ACA366092519SYNE1c.15401C>T (p.Ser5134Phe)
c.15188C>T (p.Ser5063Phe)
c.14466+318C>T (n.14466+318C>T)
c.-518C>T (n.-518C>T)
n.2747C>T
c.15422C>T (p.Ser5141Phe)
c.15371C>T (p.Ser5124Phe)
c.15350C>T (p.Ser5117Phe)
c.15266C>T (p.Ser5089Phe)
c.15263C>T (p.Ser5088Phe)
c.15257C>T (p.Ser5086Phe)
c.13697C>T (p.Ser4566Phe)
c.13190C>T (p.Ser4397Phe)
c.8657C>T (p.Ser2886Phe)
c.15395C>T (p.Ser5132Phe)
c.15344C>T (p.Ser5115Phe)
n.15905C>T
 dbSNP
6g.152325995G>CCA366092526SYNE1c.15401C>G (p.Ser5134Cys)
c.15188C>G (p.Ser5063Cys)
c.14466+318C>G (n.14466+318C>G)
c.-518C>G (n.-518C>G)
n.2747C>G
c.15422C>G (p.Ser5141Cys)
c.15371C>G (p.Ser5124Cys)
c.15350C>G (p.Ser5117Cys)
c.15266C>G (p.Ser5089Cys)
c.15263C>G (p.Ser5088Cys)
c.15257C>G (p.Ser5086Cys)
c.13697C>G (p.Ser4566Cys)
c.13190C>G (p.Ser4397Cys)
c.8657C>G (p.Ser2886Cys)
c.15395C>G (p.Ser5132Cys)
c.15344C>G (p.Ser5115Cys)
n.15905C>G
6g.152325995G=CA1673283451SYNE1c.15401C= (p.Ser5134=)
c.15188C= (p.Ser5063=)
c.14466+318C= (n.14466+318C=)
c.-518C= (n.-518C=)
n.2747C=
c.15422C= (p.Ser5141=)
c.15371C= (p.Ser5124=)
c.15350C= (p.Ser5117=)
c.15266C= (p.Ser5089=)
c.15263C= (p.Ser5088=)
c.15257C= (p.Ser5086=)
c.13697C= (p.Ser4566=)
c.13190C= (p.Ser4397=)
c.8657C= (p.Ser2886=)
c.15395C= (p.Ser5132=)
c.15344C= (p.Ser5115=)
n.15905C=
6g.152325995G>TCA366092522SYNE1c.15401C>A (p.Ser5134Tyr)
c.15188C>A (p.Ser5063Tyr)
c.14466+318C>A (n.14466+318C>A)
c.-518C>A (n.-518C>A)
n.2747C>A
c.15422C>A (p.Ser5141Tyr)
c.15371C>A (p.Ser5124Tyr)
c.15350C>A (p.Ser5117Tyr)
c.15266C>A (p.Ser5089Tyr)
c.15263C>A (p.Ser5088Tyr)
c.15257C>A (p.Ser5086Tyr)
c.13697C>A (p.Ser4566Tyr)
c.13190C>A (p.Ser4397Tyr)
c.8657C>A (p.Ser2886Tyr)
c.15395C>A (p.Ser5132Tyr)
c.15344C>A (p.Ser5115Tyr)
n.15905C>A
 dbSNP
6g.152325996A>CCA366092531SYNE1c.15400T>G (p.Ser5134Ala)
c.15187T>G (p.Ser5063Ala)
c.14466+317T>G (n.14466+317T>G)
c.-519T>G (n.-519T>G)
n.2746T>G
c.15421T>G (p.Ser5141Ala)
c.15370T>G (p.Ser5124Ala)
c.15349T>G (p.Ser5117Ala)
c.15265T>G (p.Ser5089Ala)
c.15262T>G (p.Ser5088Ala)
c.15256T>G (p.Ser5086Ala)
c.13696T>G (p.Ser4566Ala)
c.13189T>G (p.Ser4397Ala)
c.8656T>G (p.Ser2886Ala)
c.15394T>G (p.Ser5132Ala)
c.15343T>G (p.Ser5115Ala)
n.15904T>G
6g.152325996A>GCA366092534SYNE1c.15400T>C (p.Ser5134Pro)
c.15187T>C (p.Ser5063Pro)
c.14466+317T>C (n.14466+317T>C)
c.-519T>C (n.-519T>C)
n.2746T>C
c.15421T>C (p.Ser5141Pro)
c.15370T>C (p.Ser5124Pro)
c.15349T>C (p.Ser5117Pro)
c.15265T>C (p.Ser5089Pro)
c.15262T>C (p.Ser5088Pro)
c.15256T>C (p.Ser5086Pro)
c.13696T>C (p.Ser4566Pro)
c.13189T>C (p.Ser4397Pro)
c.8656T>C (p.Ser2886Pro)
c.15394T>C (p.Ser5132Pro)
c.15343T>C (p.Ser5115Pro)
n.15904T>C
6g.152325996A>TCA366092535SYNE1c.15400T>A (p.Ser5134Thr)
c.15187T>A (p.Ser5063Thr)
c.14466+317T>A (n.14466+317T>A)
c.-519T>A (n.-519T>A)
n.2746T>A
c.15421T>A (p.Ser5141Thr)
c.15370T>A (p.Ser5124Thr)
c.15349T>A (p.Ser5117Thr)
c.15265T>A (p.Ser5089Thr)
c.15262T>A (p.Ser5088Thr)
c.15256T>A (p.Ser5086Thr)
c.13696T>A (p.Ser4566Thr)
c.13189T>A (p.Ser4397Thr)
c.8656T>A (p.Ser2886Thr)
c.15394T>A (p.Ser5132Thr)
c.15343T>A (p.Ser5115Thr)
n.15904T>A
6g.152325997C>ACA452748295SYNE1c.15399G>T (p.Ser5133=)
c.15186G>T (p.Ser5062=)
c.14466+316G>T (n.14466+316G>T)
c.-520G>T (n.-520G>T)
n.2745G>T
c.15420G>T (p.Ser5140=)
c.15369G>T (p.Ser5123=)
c.15348G>T (p.Ser5116=)
c.15264G>T (p.Ser5088=)
c.15261G>T (p.Ser5087=)
c.15255G>T (p.Ser5085=)
c.13695G>T (p.Ser4565=)
c.13188G>T (p.Ser4396=)
c.8655G>T (p.Ser2885=)
c.15393G>T (p.Ser5131=)
c.15342G>T (p.Ser5114=)
n.15903G>T
6g.152325997C=CA1673283461SYNE1c.15399G= (p.Ser5133=)
c.15186G= (p.Ser5062=)
c.14466+316G= (n.14466+316G=)
c.-520G= (n.-520G=)
n.2745G=
c.15420G= (p.Ser5140=)
c.15369G= (p.Ser5123=)
c.15348G= (p.Ser5116=)
c.15264G= (p.Ser5088=)
c.15261G= (p.Ser5087=)
c.15255G= (p.Ser5085=)
c.13695G= (p.Ser4565=)
c.13188G= (p.Ser4396=)
c.8655G= (p.Ser2885=)
c.15393G= (p.Ser5131=)
c.15342G= (p.Ser5114=)
n.15903G=
6g.152325997C>GCA452748296SYNE1c.15399G>C (p.Ser5133=)
c.15186G>C (p.Ser5062=)
c.14466+316G>C (n.14466+316G>C)
c.-520G>C (n.-520G>C)
n.2745G>C
c.15420G>C (p.Ser5140=)
c.15369G>C (p.Ser5123=)
c.15348G>C (p.Ser5116=)
c.15264G>C (p.Ser5088=)
c.15261G>C (p.Ser5087=)
c.15255G>C (p.Ser5085=)
c.13695G>C (p.Ser4565=)
c.13188G>C (p.Ser4396=)
c.8655G>C (p.Ser2885=)
c.15393G>C (p.Ser5131=)
c.15342G>C (p.Ser5114=)
n.15903G>C

Number of alleles fetched