Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152368980A=CA1673300196SYNE1c.1150T= (p.Leu384=)
c.9799T= (p.Leu3267=)
c.9820T= (p.Leu3274=)
c.9865T= (p.Leu3289=)
c.1147T= (p.Leu383=)
c.244+491T=
n.1348T=
c.9769T= (p.Leu3257=)
c.9748T= (p.Leu3250=)
c.9672+491T= (n.9672+491T=)
c.9661T= (p.Leu3221=)
c.9655T= (p.Leu3219=)
c.8095T= (p.Leu2699=)
c.7588T= (p.Leu2530=)
c.3055T= (p.Leu1019=)
c.9793T= (p.Leu3265=)
c.9742T= (p.Leu3248=)
n.10303T=
6g.152368980A>CCA366137018SYNE1c.1150T>G (p.Leu384Val)
c.9799T>G (p.Leu3267Val)
c.9820T>G (p.Leu3274Val)
c.9865T>G (p.Leu3289Val)
c.1147T>G (p.Leu383Val)
c.244+491T>G
n.1348T>G
c.9769T>G (p.Leu3257Val)
c.9748T>G (p.Leu3250Val)
c.9672+491T>G (n.9672+491T>G)
c.9661T>G (p.Leu3221Val)
c.9655T>G (p.Leu3219Val)
c.8095T>G (p.Leu2699Val)
c.7588T>G (p.Leu2530Val)
c.3055T>G (p.Leu1019Val)
c.9793T>G (p.Leu3265Val)
c.9742T>G (p.Leu3248Val)
n.10303T>G
6g.152368980A>GCA452760832SYNE1c.1150T>C (p.Leu384=)
c.9799T>C (p.Leu3267=)
c.9820T>C (p.Leu3274=)
c.9865T>C (p.Leu3289=)
c.1147T>C (p.Leu383=)
c.244+491T>C
n.1348T>C
c.9769T>C (p.Leu3257=)
c.9748T>C (p.Leu3250=)
c.9672+491T>C (n.9672+491T>C)
c.9661T>C (p.Leu3221=)
c.9655T>C (p.Leu3219=)
c.8095T>C (p.Leu2699=)
c.7588T>C (p.Leu2530=)
c.3055T>C (p.Leu1019=)
c.9793T>C (p.Leu3265=)
c.9742T>C (p.Leu3248=)
n.10303T>C
6g.152368980A>TCA366137019SYNE1c.1150T>A (p.Leu384Ile)
c.9799T>A (p.Leu3267Ile)
c.9820T>A (p.Leu3274Ile)
c.9865T>A (p.Leu3289Ile)
c.1147T>A (p.Leu383Ile)
c.244+491T>A
n.1348T>A
c.9769T>A (p.Leu3257Ile)
c.9748T>A (p.Leu3250Ile)
c.9672+491T>A (n.9672+491T>A)
c.9661T>A (p.Leu3221Ile)
c.9655T>A (p.Leu3219Ile)
c.8095T>A (p.Leu2699Ile)
c.7588T>A (p.Leu2530Ile)
c.3055T>A (p.Leu1019Ile)
c.9793T>A (p.Leu3265Ile)
c.9742T>A (p.Leu3248Ile)
n.10303T>A
 ClinVar dbSNP
6g.152368981A=CA1673300198SYNE1c.1149T= (p.Asn383=)
c.9798T= (p.Asn3266=)
c.9819T= (p.Asn3273=)
c.9864T= (p.Asn3288=)
c.1146T= (p.Asn382=)
c.244+490T=
n.1347T=
c.9768T= (p.Asn3256=)
c.9747T= (p.Asn3249=)
c.9672+490T= (n.9672+490T=)
c.9660T= (p.Asn3220=)
c.9654T= (p.Asn3218=)
c.8094T= (p.Asn2698=)
c.7587T= (p.Asn2529=)
c.3054T= (p.Asn1018=)
c.9792T= (p.Asn3264=)
c.9741T= (p.Asn3247=)
n.10302T=
6g.152368981A>CCA366137021SYNE1c.1149T>G (p.Asn383Lys)
c.9798T>G (p.Asn3266Lys)
c.9819T>G (p.Asn3273Lys)
c.9864T>G (p.Asn3288Lys)
c.1146T>G (p.Asn382Lys)
c.244+490T>G
n.1347T>G
c.9768T>G (p.Asn3256Lys)
c.9747T>G (p.Asn3249Lys)
c.9672+490T>G (n.9672+490T>G)
c.9660T>G (p.Asn3220Lys)
c.9654T>G (p.Asn3218Lys)
c.8094T>G (p.Asn2698Lys)
c.7587T>G (p.Asn2529Lys)
c.3054T>G (p.Asn1018Lys)
c.9792T>G (p.Asn3264Lys)
c.9741T>G (p.Asn3247Lys)
n.10302T>G
6g.152368981A>GCA452760836SYNE1c.1149T>C (p.Asn383=)
c.9798T>C (p.Asn3266=)
c.9819T>C (p.Asn3273=)
c.9864T>C (p.Asn3288=)
c.1146T>C (p.Asn382=)
c.244+490T>C
n.1347T>C
c.9768T>C (p.Asn3256=)
c.9747T>C (p.Asn3249=)
c.9672+490T>C (n.9672+490T>C)
c.9660T>C (p.Asn3220=)
c.9654T>C (p.Asn3218=)
c.8094T>C (p.Asn2698=)
c.7587T>C (p.Asn2529=)
c.3054T>C (p.Asn1018=)
c.9792T>C (p.Asn3264=)
c.9741T>C (p.Asn3247=)
n.10302T>C
 dbSNP
6g.152368981A>TCA366137024SYNE1c.1149T>A (p.Asn383Lys)
c.9798T>A (p.Asn3266Lys)
c.9819T>A (p.Asn3273Lys)
c.9864T>A (p.Asn3288Lys)
c.1146T>A (p.Asn382Lys)
c.244+490T>A
n.1347T>A
c.9768T>A (p.Asn3256Lys)
c.9747T>A (p.Asn3249Lys)
c.9672+490T>A (n.9672+490T>A)
c.9660T>A (p.Asn3220Lys)
c.9654T>A (p.Asn3218Lys)
c.8094T>A (p.Asn2698Lys)
c.7587T>A (p.Asn2529Lys)
c.3054T>A (p.Asn1018Lys)
c.9792T>A (p.Asn3264Lys)
c.9741T>A (p.Asn3247Lys)
n.10302T>A
6g.152368982T>ACA366137027SYNE1c.1148A>T (p.Asn383Ile)
c.9797A>T (p.Asn3266Ile)
c.9818A>T (p.Asn3273Ile)
c.9863A>T (p.Asn3288Ile)
c.1145A>T (p.Asn382Ile)
c.244+489A>T
n.1346A>T
c.9767A>T (p.Asn3256Ile)
c.9746A>T (p.Asn3249Ile)
c.9672+489A>T (n.9672+489A>T)
c.9659A>T (p.Asn3220Ile)
c.9653A>T (p.Asn3218Ile)
c.8093A>T (p.Asn2698Ile)
c.7586A>T (p.Asn2529Ile)
c.3053A>T (p.Asn1018Ile)
c.9791A>T (p.Asn3264Ile)
c.9740A>T (p.Asn3247Ile)
n.10301A>T
6g.152368982T>CCA4057208SYNE1c.1148A>G (p.Asn383Ser)
c.9797A>G (p.Asn3266Ser)
c.9818A>G (p.Asn3273Ser)
c.9863A>G (p.Asn3288Ser)
c.1145A>G (p.Asn382Ser)
c.244+489A>G
n.1346A>G
c.9767A>G (p.Asn3256Ser)
c.9746A>G (p.Asn3249Ser)
c.9672+489A>G (n.9672+489A>G)
c.9659A>G (p.Asn3220Ser)
c.9653A>G (p.Asn3218Ser)
c.8093A>G (p.Asn2698Ser)
c.7586A>G (p.Asn2529Ser)
c.3053A>G (p.Asn1018Ser)
c.9791A>G (p.Asn3264Ser)
c.9740A>G (p.Asn3247Ser)
n.10301A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152368982T>GCA366137031SYNE1c.1148A>C (p.Asn383Thr)
c.9797A>C (p.Asn3266Thr)
c.9818A>C (p.Asn3273Thr)
c.9863A>C (p.Asn3288Thr)
c.1145A>C (p.Asn382Thr)
c.244+489A>C
n.1346A>C
c.9767A>C (p.Asn3256Thr)
c.9746A>C (p.Asn3249Thr)
c.9672+489A>C (n.9672+489A>C)
c.9659A>C (p.Asn3220Thr)
c.9653A>C (p.Asn3218Thr)
c.8093A>C (p.Asn2698Thr)
c.7586A>C (p.Asn2529Thr)
c.3053A>C (p.Asn1018Thr)
c.9791A>C (p.Asn3264Thr)
c.9740A>C (p.Asn3247Thr)
n.10301A>C
 gnomAD v4
6g.152368982T=CA1673300200SYNE1c.1148A= (p.Asn383=)
c.9797A= (p.Asn3266=)
c.9818A= (p.Asn3273=)
c.9863A= (p.Asn3288=)
c.1145A= (p.Asn382=)
c.244+489A=
n.1346A=
c.9767A= (p.Asn3256=)
c.9746A= (p.Asn3249=)
c.9672+489A= (n.9672+489A=)
c.9659A= (p.Asn3220=)
c.9653A= (p.Asn3218=)
c.8093A= (p.Asn2698=)
c.7586A= (p.Asn2529=)
c.3053A= (p.Asn1018=)
c.9791A= (p.Asn3264=)
c.9740A= (p.Asn3247=)
n.10301A=
6g.152368983T>ACA366137041SYNE1c.1147A>T (p.Asn383Tyr)
c.9796A>T (p.Asn3266Tyr)
c.9817A>T (p.Asn3273Tyr)
c.9862A>T (p.Asn3288Tyr)
c.1144A>T (p.Asn382Tyr)
c.244+488A>T
n.1345A>T
c.9766A>T (p.Asn3256Tyr)
c.9745A>T (p.Asn3249Tyr)
c.9672+488A>T (n.9672+488A>T)
c.9658A>T (p.Asn3220Tyr)
c.9652A>T (p.Asn3218Tyr)
c.8092A>T (p.Asn2698Tyr)
c.7585A>T (p.Asn2529Tyr)
c.3052A>T (p.Asn1018Tyr)
c.9790A>T (p.Asn3264Tyr)
c.9739A>T (p.Asn3247Tyr)
n.10300A>T
6g.152368983T>CCA4057209SYNE1c.1147A>G (p.Asn383Asp)
c.9796A>G (p.Asn3266Asp)
c.9817A>G (p.Asn3273Asp)
c.9862A>G (p.Asn3288Asp)
c.1144A>G (p.Asn382Asp)
c.244+488A>G
n.1345A>G
c.9766A>G (p.Asn3256Asp)
c.9745A>G (p.Asn3249Asp)
c.9672+488A>G (n.9672+488A>G)
c.9658A>G (p.Asn3220Asp)
c.9652A>G (p.Asn3218Asp)
c.8092A>G (p.Asn2698Asp)
c.7585A>G (p.Asn2529Asp)
c.3052A>G (p.Asn1018Asp)
c.9790A>G (p.Asn3264Asp)
c.9739A>G (p.Asn3247Asp)
n.10300A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152368983T>GCA366137047SYNE1c.1147A>C (p.Asn383His)
c.9796A>C (p.Asn3266His)
c.9817A>C (p.Asn3273His)
c.9862A>C (p.Asn3288His)
c.1144A>C (p.Asn382His)
c.244+488A>C
n.1345A>C
c.9766A>C (p.Asn3256His)
c.9745A>C (p.Asn3249His)
c.9672+488A>C (n.9672+488A>C)
c.9658A>C (p.Asn3220His)
c.9652A>C (p.Asn3218His)
c.8092A>C (p.Asn2698His)
c.7585A>C (p.Asn2529His)
c.3052A>C (p.Asn1018His)
c.9790A>C (p.Asn3264His)
c.9739A>C (p.Asn3247His)
n.10300A>C
6g.152368983T=CA1673300201SYNE1c.1147A= (p.Asn383=)
c.9796A= (p.Asn3266=)
c.9817A= (p.Asn3273=)
c.9862A= (p.Asn3288=)
c.1144A= (p.Asn382=)
c.244+488A=
n.1345A=
c.9766A= (p.Asn3256=)
c.9745A= (p.Asn3249=)
c.9672+488A= (n.9672+488A=)
c.9658A= (p.Asn3220=)
c.9652A= (p.Asn3218=)
c.8092A= (p.Asn2698=)
c.7585A= (p.Asn2529=)
c.3052A= (p.Asn1018=)
c.9790A= (p.Asn3264=)
c.9739A= (p.Asn3247=)
n.10300A=
6g.152368984G>ACA452760850SYNE1c.1146C>T (p.Ser382=)
c.9795C>T (p.Ser3265=)
c.9816C>T (p.Ser3272=)
c.9861C>T (p.Ser3287=)
c.1143C>T (p.Ser381=)
c.244+487C>T
n.1344C>T
c.9765C>T (p.Ser3255=)
c.9744C>T (p.Ser3248=)
c.9672+487C>T (n.9672+487C>T)
c.9657C>T (p.Ser3219=)
c.9651C>T (p.Ser3217=)
c.8091C>T (p.Ser2697=)
c.7584C>T (p.Ser2528=)
c.3051C>T (p.Ser1017=)
c.9789C>T (p.Ser3263=)
c.9738C>T (p.Ser3246=)
n.10299C>T
6g.152368984G>CCA366137049SYNE1c.1146C>G (p.Ser382Arg)
c.9795C>G (p.Ser3265Arg)
c.9816C>G (p.Ser3272Arg)
c.9861C>G (p.Ser3287Arg)
c.1143C>G (p.Ser381Arg)
c.244+487C>G
n.1344C>G
c.9765C>G (p.Ser3255Arg)
c.9744C>G (p.Ser3248Arg)
c.9672+487C>G (n.9672+487C>G)
c.9657C>G (p.Ser3219Arg)
c.9651C>G (p.Ser3217Arg)
c.8091C>G (p.Ser2697Arg)
c.7584C>G (p.Ser2528Arg)
c.3051C>G (p.Ser1017Arg)
c.9789C>G (p.Ser3263Arg)
c.9738C>G (p.Ser3246Arg)
n.10299C>G
6g.152368984G>TCA366137060SYNE1c.1146C>A (p.Ser382Arg)
c.9795C>A (p.Ser3265Arg)
c.9816C>A (p.Ser3272Arg)
c.9861C>A (p.Ser3287Arg)
c.1143C>A (p.Ser381Arg)
c.244+487C>A
n.1344C>A
c.9765C>A (p.Ser3255Arg)
c.9744C>A (p.Ser3248Arg)
c.9672+487C>A (n.9672+487C>A)
c.9657C>A (p.Ser3219Arg)
c.9651C>A (p.Ser3217Arg)
c.8091C>A (p.Ser2697Arg)
c.7584C>A (p.Ser2528Arg)
c.3051C>A (p.Ser1017Arg)
c.9789C>A (p.Ser3263Arg)
c.9738C>A (p.Ser3246Arg)
n.10299C>A
6g.152368985C>ACA150218105SYNE1c.1145G>T (p.Ser382Ile)
c.9794G>T (p.Ser3265Ile)
c.9815G>T (p.Ser3272Ile)
c.9860G>T (p.Ser3287Ile)
c.1142G>T (p.Ser381Ile)
c.244+486G>T
n.1343G>T
c.9764G>T (p.Ser3255Ile)
c.9743G>T (p.Ser3248Ile)
c.9672+486G>T (n.9672+486G>T)
c.9656G>T (p.Ser3219Ile)
c.9650G>T (p.Ser3217Ile)
c.8090G>T (p.Ser2697Ile)
c.7583G>T (p.Ser2528Ile)
c.3050G>T (p.Ser1017Ile)
c.9788G>T (p.Ser3263Ile)
c.9737G>T (p.Ser3246Ile)
n.10298G>T
 dbSNP
6g.152368985C=CA1673300202SYNE1c.1145G= (p.Ser382=)
c.9794G= (p.Ser3265=)
c.9815G= (p.Ser3272=)
c.9860G= (p.Ser3287=)
c.1142G= (p.Ser381=)
c.244+486G=
n.1343G=
c.9764G= (p.Ser3255=)
c.9743G= (p.Ser3248=)
c.9672+486G= (n.9672+486G=)
c.9656G= (p.Ser3219=)
c.9650G= (p.Ser3217=)
c.8090G= (p.Ser2697=)
c.7583G= (p.Ser2528=)
c.3050G= (p.Ser1017=)
c.9788G= (p.Ser3263=)
c.9737G= (p.Ser3246=)
n.10298G=
6g.152368985C>GCA366137064SYNE1c.1145G>C (p.Ser382Thr)
c.9794G>C (p.Ser3265Thr)
c.9815G>C (p.Ser3272Thr)
c.9860G>C (p.Ser3287Thr)
c.1142G>C (p.Ser381Thr)
c.244+486G>C
n.1343G>C
c.9764G>C (p.Ser3255Thr)
c.9743G>C (p.Ser3248Thr)
c.9672+486G>C (n.9672+486G>C)
c.9656G>C (p.Ser3219Thr)
c.9650G>C (p.Ser3217Thr)
c.8090G>C (p.Ser2697Thr)
c.7583G>C (p.Ser2528Thr)
c.3050G>C (p.Ser1017Thr)
c.9788G>C (p.Ser3263Thr)
c.9737G>C (p.Ser3246Thr)
n.10298G>C
6g.152368985C>TCA366137063SYNE1c.1145G>A (p.Ser382Asn)
c.9794G>A (p.Ser3265Asn)
c.9815G>A (p.Ser3272Asn)
c.9860G>A (p.Ser3287Asn)
c.1142G>A (p.Ser381Asn)
c.244+486G>A
n.1343G>A
c.9764G>A (p.Ser3255Asn)
c.9743G>A (p.Ser3248Asn)
c.9672+486G>A (n.9672+486G>A)
c.9656G>A (p.Ser3219Asn)
c.9650G>A (p.Ser3217Asn)
c.8090G>A (p.Ser2697Asn)
c.7583G>A (p.Ser2528Asn)
c.3050G>A (p.Ser1017Asn)
c.9788G>A (p.Ser3263Asn)
c.9737G>A (p.Ser3246Asn)
n.10298G>A
6g.152368986T>ACA366137066SYNE1c.1144A>T (p.Ser382Cys)
c.9793A>T (p.Ser3265Cys)
c.9814A>T (p.Ser3272Cys)
c.9859A>T (p.Ser3287Cys)
c.1141A>T (p.Ser381Cys)
c.244+485A>T
n.1342A>T
c.9763A>T (p.Ser3255Cys)
c.9742A>T (p.Ser3248Cys)
c.9672+485A>T (n.9672+485A>T)
c.9655A>T (p.Ser3219Cys)
c.9649A>T (p.Ser3217Cys)
c.8089A>T (p.Ser2697Cys)
c.7582A>T (p.Ser2528Cys)
c.3049A>T (p.Ser1017Cys)
c.9787A>T (p.Ser3263Cys)
c.9736A>T (p.Ser3246Cys)
n.10297A>T
6g.152368986T>CCA366137068SYNE1c.1144A>G (p.Ser382Gly)
c.9793A>G (p.Ser3265Gly)
c.9814A>G (p.Ser3272Gly)
c.9859A>G (p.Ser3287Gly)
c.1141A>G (p.Ser381Gly)
c.244+485A>G
n.1342A>G
c.9763A>G (p.Ser3255Gly)
c.9742A>G (p.Ser3248Gly)
c.9672+485A>G (n.9672+485A>G)
c.9655A>G (p.Ser3219Gly)
c.9649A>G (p.Ser3217Gly)
c.8089A>G (p.Ser2697Gly)
c.7582A>G (p.Ser2528Gly)
c.3049A>G (p.Ser1017Gly)
c.9787A>G (p.Ser3263Gly)
c.9736A>G (p.Ser3246Gly)
n.10297A>G
6g.152368986T>GCA366137070SYNE1c.1144A>C (p.Ser382Arg)
c.9793A>C (p.Ser3265Arg)
c.9814A>C (p.Ser3272Arg)
c.9859A>C (p.Ser3287Arg)
c.1141A>C (p.Ser381Arg)
c.244+485A>C
n.1342A>C
c.9763A>C (p.Ser3255Arg)
c.9742A>C (p.Ser3248Arg)
c.9672+485A>C (n.9672+485A>C)
c.9655A>C (p.Ser3219Arg)
c.9649A>C (p.Ser3217Arg)
c.8089A>C (p.Ser2697Arg)
c.7582A>C (p.Ser2528Arg)
c.3049A>C (p.Ser1017Arg)
c.9787A>C (p.Ser3263Arg)
c.9736A>C (p.Ser3246Arg)
n.10297A>C
6g.152368986_152368987dupCA1673300203SYNE1c.1143_1144dup (p.Ser382LysfsTer4)
c.9792_9793dup (p.Ser3265LysfsTer4)
c.9813_9814dup (p.Ser3272LysfsTer4)
c.9858_9859dup (p.Ser3287LysfsTer4)
c.1140_1141dup (p.Ser381LysfsTer4)
c.244+484_244+485dup
n.1341_1342dup
c.9762_9763dup (p.Ser3255LysfsTer4)
c.9741_9742dup (p.Ser3248LysfsTer4)
c.9672+484_9672+485dup (n.9672+484_9672+485dup)
c.9654_9655dup (p.Ser3219LysfsTer4)
c.9648_9649dup (p.Ser3217LysfsTer4)
c.8088_8089dup (p.Ser2697LysfsTer4)
c.7581_7582dup (p.Ser2528LysfsTer4)
c.3048_3049dup (p.Ser1017LysfsTer4)
c.9786_9787dup (p.Ser3263LysfsTer4)
c.9735_9736dup (p.Ser3246LysfsTer4)
n.10296_10297dup
 dbSNP
6g.152368987T>ACA452760860SYNE1c.1143A>T (p.Leu381=)
c.9792A>T (p.Leu3264=)
c.9813A>T (p.Leu3271=)
c.9858A>T (p.Leu3286=)
c.1140A>T (p.Leu380=)
c.244+484A>T
n.1341A>T
c.9762A>T (p.Leu3254=)
c.9741A>T (p.Leu3247=)
c.9672+484A>T (n.9672+484A>T)
c.9654A>T (p.Leu3218=)
c.9648A>T (p.Leu3216=)
c.8088A>T (p.Leu2696=)
c.7581A>T (p.Leu2527=)
c.3048A>T (p.Leu1016=)
c.9786A>T (p.Leu3262=)
c.9735A>T (p.Leu3245=)
n.10296A>T
6g.152368987T>CCA452760862SYNE1c.1143A>G (p.Leu381=)
c.9792A>G (p.Leu3264=)
c.9813A>G (p.Leu3271=)
c.9858A>G (p.Leu3286=)
c.1140A>G (p.Leu380=)
c.244+484A>G
n.1341A>G
c.9762A>G (p.Leu3254=)
c.9741A>G (p.Leu3247=)
c.9672+484A>G (n.9672+484A>G)
c.9654A>G (p.Leu3218=)
c.9648A>G (p.Leu3216=)
c.8088A>G (p.Leu2696=)
c.7581A>G (p.Leu2527=)
c.3048A>G (p.Leu1016=)
c.9786A>G (p.Leu3262=)
c.9735A>G (p.Leu3245=)
n.10296A>G
6g.152368987T>GCA452760865SYNE1c.1143A>C (p.Leu381=)
c.9792A>C (p.Leu3264=)
c.9813A>C (p.Leu3271=)
c.9858A>C (p.Leu3286=)
c.1140A>C (p.Leu380=)
c.244+484A>C
n.1341A>C
c.9762A>C (p.Leu3254=)
c.9741A>C (p.Leu3247=)
c.9672+484A>C (n.9672+484A>C)
c.9654A>C (p.Leu3218=)
c.9648A>C (p.Leu3216=)
c.8088A>C (p.Leu2696=)
c.7581A>C (p.Leu2527=)
c.3048A>C (p.Leu1016=)
c.9786A>C (p.Leu3262=)
c.9735A>C (p.Leu3245=)
n.10296A>C
6g.152368988A>CCA366137071SYNE1c.1142T>G (p.Leu381Arg)
c.9791T>G (p.Leu3264Arg)
c.9812T>G (p.Leu3271Arg)
c.9857T>G (p.Leu3286Arg)
c.1139T>G (p.Leu380Arg)
c.244+483T>G
n.1340T>G
c.9761T>G (p.Leu3254Arg)
c.9740T>G (p.Leu3247Arg)
c.9672+483T>G (n.9672+483T>G)
c.9653T>G (p.Leu3218Arg)
c.9647T>G (p.Leu3216Arg)
c.8087T>G (p.Leu2696Arg)
c.7580T>G (p.Leu2527Arg)
c.3047T>G (p.Leu1016Arg)
c.9785T>G (p.Leu3262Arg)
c.9734T>G (p.Leu3245Arg)
n.10295T>G
6g.152368988A>GCA366137072SYNE1c.1142T>C (p.Leu381Pro)
c.9791T>C (p.Leu3264Pro)
c.9812T>C (p.Leu3271Pro)
c.9857T>C (p.Leu3286Pro)
c.1139T>C (p.Leu380Pro)
c.244+483T>C
n.1340T>C
c.9761T>C (p.Leu3254Pro)
c.9740T>C (p.Leu3247Pro)
c.9672+483T>C (n.9672+483T>C)
c.9653T>C (p.Leu3218Pro)
c.9647T>C (p.Leu3216Pro)
c.8087T>C (p.Leu2696Pro)
c.7580T>C (p.Leu2527Pro)
c.3047T>C (p.Leu1016Pro)
c.9785T>C (p.Leu3262Pro)
c.9734T>C (p.Leu3245Pro)
n.10295T>C
6g.152368988A>TCA366137083SYNE1c.1142T>A (p.Leu381Gln)
c.9791T>A (p.Leu3264Gln)
c.9812T>A (p.Leu3271Gln)
c.9857T>A (p.Leu3286Gln)
c.1139T>A (p.Leu380Gln)
c.244+483T>A
n.1340T>A
c.9761T>A (p.Leu3254Gln)
c.9740T>A (p.Leu3247Gln)
c.9672+483T>A (n.9672+483T>A)
c.9653T>A (p.Leu3218Gln)
c.9647T>A (p.Leu3216Gln)
c.8087T>A (p.Leu2696Gln)
c.7580T>A (p.Leu2527Gln)
c.3047T>A (p.Leu1016Gln)
c.9785T>A (p.Leu3262Gln)
c.9734T>A (p.Leu3245Gln)
n.10295T>A
6g.152368989G>ACA452760869SYNE1c.1141C>T (p.Leu381=)
c.9790C>T (p.Leu3264=)
c.9811C>T (p.Leu3271=)
c.9856C>T (p.Leu3286=)
c.1138C>T (p.Leu380=)
c.244+482C>T
n.1339C>T
c.9760C>T (p.Leu3254=)
c.9739C>T (p.Leu3247=)
c.9672+482C>T (n.9672+482C>T)
c.9652C>T (p.Leu3218=)
c.9646C>T (p.Leu3216=)
c.8086C>T (p.Leu2696=)
c.7579C>T (p.Leu2527=)
c.3046C>T (p.Leu1016=)
c.9784C>T (p.Leu3262=)
c.9733C>T (p.Leu3245=)
n.10294C>T
 dbSNP gnomAD v3 gnomAD v4
6g.152368989G>CCA366137084SYNE1c.1141C>G (p.Leu381Val)
c.9790C>G (p.Leu3264Val)
c.9811C>G (p.Leu3271Val)
c.9856C>G (p.Leu3286Val)
c.1138C>G (p.Leu380Val)
c.244+482C>G
n.1339C>G
c.9760C>G (p.Leu3254Val)
c.9739C>G (p.Leu3247Val)
c.9672+482C>G (n.9672+482C>G)
c.9652C>G (p.Leu3218Val)
c.9646C>G (p.Leu3216Val)
c.8086C>G (p.Leu2696Val)
c.7579C>G (p.Leu2527Val)
c.3046C>G (p.Leu1016Val)
c.9784C>G (p.Leu3262Val)
c.9733C>G (p.Leu3245Val)
n.10294C>G
6g.152368989G=CA1673300204SYNE1c.1141C= (p.Leu381=)
c.9790C= (p.Leu3264=)
c.9811C= (p.Leu3271=)
c.9856C= (p.Leu3286=)
c.1138C= (p.Leu380=)
c.244+482C=
n.1339C=
c.9760C= (p.Leu3254=)
c.9739C= (p.Leu3247=)
c.9672+482C= (n.9672+482C=)
c.9652C= (p.Leu3218=)
c.9646C= (p.Leu3216=)
c.8086C= (p.Leu2696=)
c.7579C= (p.Leu2527=)
c.3046C= (p.Leu1016=)
c.9784C= (p.Leu3262=)
c.9733C= (p.Leu3245=)
n.10294C=
6g.152368989G>TCA366137086SYNE1c.1141C>A (p.Leu381Ile)
c.9790C>A (p.Leu3264Ile)
c.9811C>A (p.Leu3271Ile)
c.9856C>A (p.Leu3286Ile)
c.1138C>A (p.Leu380Ile)
c.244+482C>A
n.1339C>A
c.9760C>A (p.Leu3254Ile)
c.9739C>A (p.Leu3247Ile)
c.9672+482C>A (n.9672+482C>A)
c.9652C>A (p.Leu3218Ile)
c.9646C>A (p.Leu3216Ile)
c.8086C>A (p.Leu2696Ile)
c.7579C>A (p.Leu2527Ile)
c.3046C>A (p.Leu1016Ile)
c.9784C>A (p.Leu3262Ile)
c.9733C>A (p.Leu3245Ile)
n.10294C>A
6g.152368990C>ACA452760872SYNE1c.1140G>T (p.Ala380=)
c.9789G>T (p.Ala3263=)
c.9810G>T (p.Ala3270=)
c.9855G>T (p.Ala3285=)
c.1137G>T (p.Ala379=)
c.244+481G>T
n.1338G>T
c.9759G>T (p.Ala3253=)
c.9738G>T (p.Ala3246=)
c.9672+481G>T (n.9672+481G>T)
c.9651G>T (p.Ala3217=)
c.9645G>T (p.Ala3215=)
c.8085G>T (p.Ala2695=)
c.7578G>T (p.Ala2526=)
c.3045G>T (p.Ala1015=)
c.9783G>T (p.Ala3261=)
c.9732G>T (p.Ala3244=)
n.10293G>T
6g.152368990C=CA1673300205SYNE1c.1140G= (p.Ala380=)
c.9789G= (p.Ala3263=)
c.9810G= (p.Ala3270=)
c.9855G= (p.Ala3285=)
c.1137G= (p.Ala379=)
c.244+481G=
n.1338G=
c.9759G= (p.Ala3253=)
c.9738G= (p.Ala3246=)
c.9672+481G= (n.9672+481G=)
c.9651G= (p.Ala3217=)
c.9645G= (p.Ala3215=)
c.8085G= (p.Ala2695=)
c.7578G= (p.Ala2526=)
c.3045G= (p.Ala1015=)
c.9783G= (p.Ala3261=)
c.9732G= (p.Ala3244=)
n.10293G=
6g.152368990C>GCA452760875SYNE1c.1140G>C (p.Ala380=)
c.9789G>C (p.Ala3263=)
c.9810G>C (p.Ala3270=)
c.9855G>C (p.Ala3285=)
c.1137G>C (p.Ala379=)
c.244+481G>C
n.1338G>C
c.9759G>C (p.Ala3253=)
c.9738G>C (p.Ala3246=)
c.9672+481G>C (n.9672+481G>C)
c.9651G>C (p.Ala3217=)
c.9645G>C (p.Ala3215=)
c.8085G>C (p.Ala2695=)
c.7578G>C (p.Ala2526=)
c.3045G>C (p.Ala1015=)
c.9783G>C (p.Ala3261=)
c.9732G>C (p.Ala3244=)
n.10293G>C
6g.152368990C>TCA4057210SYNE1c.1140G>A (p.Ala380=)
c.9789G>A (p.Ala3263=)
c.9810G>A (p.Ala3270=)
c.9855G>A (p.Ala3285=)
c.1137G>A (p.Ala379=)
c.244+481G>A
n.1338G>A
c.9759G>A (p.Ala3253=)
c.9738G>A (p.Ala3246=)
c.9672+481G>A (n.9672+481G>A)
c.9651G>A (p.Ala3217=)
c.9645G>A (p.Ala3215=)
c.8085G>A (p.Ala2695=)
c.7578G>A (p.Ala2526=)
c.3045G>A (p.Ala1015=)
c.9783G>A (p.Ala3261=)
c.9732G>A (p.Ala3244=)
n.10293G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152368991G>ACA4057211SYNE1c.1139C>T (p.Ala380Val)
c.9788C>T (p.Ala3263Val)
c.9809C>T (p.Ala3270Val)
c.9854C>T (p.Ala3285Val)
c.1136C>T (p.Ala379Val)
c.244+480C>T
n.1337C>T
c.9758C>T (p.Ala3253Val)
c.9737C>T (p.Ala3246Val)
c.9672+480C>T (n.9672+480C>T)
c.9650C>T (p.Ala3217Val)
c.9644C>T (p.Ala3215Val)
c.8084C>T (p.Ala2695Val)
c.7577C>T (p.Ala2526Val)
c.3044C>T (p.Ala1015Val)
c.9782C>T (p.Ala3261Val)
c.9731C>T (p.Ala3244Val)
n.10292C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152368991G>CCA366137099SYNE1c.1139C>G (p.Ala380Gly)
c.9788C>G (p.Ala3263Gly)
c.9809C>G (p.Ala3270Gly)
c.9854C>G (p.Ala3285Gly)
c.1136C>G (p.Ala379Gly)
c.244+480C>G
n.1337C>G
c.9758C>G (p.Ala3253Gly)
c.9737C>G (p.Ala3246Gly)
c.9672+480C>G (n.9672+480C>G)
c.9650C>G (p.Ala3217Gly)
c.9644C>G (p.Ala3215Gly)
c.8084C>G (p.Ala2695Gly)
c.7577C>G (p.Ala2526Gly)
c.3044C>G (p.Ala1015Gly)
c.9782C>G (p.Ala3261Gly)
c.9731C>G (p.Ala3244Gly)
n.10292C>G
6g.152368991G=CA1673300206SYNE1c.1139C= (p.Ala380=)
c.9788C= (p.Ala3263=)
c.9809C= (p.Ala3270=)
c.9854C= (p.Ala3285=)
c.1136C= (p.Ala379=)
c.244+480C=
n.1337C=
c.9758C= (p.Ala3253=)
c.9737C= (p.Ala3246=)
c.9672+480C= (n.9672+480C=)
c.9650C= (p.Ala3217=)
c.9644C= (p.Ala3215=)
c.8084C= (p.Ala2695=)
c.7577C= (p.Ala2526=)
c.3044C= (p.Ala1015=)
c.9782C= (p.Ala3261=)
c.9731C= (p.Ala3244=)
n.10292C=
6g.152368991G>TCA150218113SYNE1c.1139C>A (p.Ala380Glu)
c.9788C>A (p.Ala3263Glu)
c.9809C>A (p.Ala3270Glu)
c.9854C>A (p.Ala3285Glu)
c.1136C>A (p.Ala379Glu)
c.244+480C>A
n.1337C>A
c.9758C>A (p.Ala3253Glu)
c.9737C>A (p.Ala3246Glu)
c.9672+480C>A (n.9672+480C>A)
c.9650C>A (p.Ala3217Glu)
c.9644C>A (p.Ala3215Glu)
c.8084C>A (p.Ala2695Glu)
c.7577C>A (p.Ala2526Glu)
c.3044C>A (p.Ala1015Glu)
c.9782C>A (p.Ala3261Glu)
c.9731C>A (p.Ala3244Glu)
n.10292C>A
 dbSNP gnomAD v3 gnomAD v4
6g.152368992C>ACA366137102SYNE1c.1138G>T (p.Ala380Ser)
c.9787G>T (p.Ala3263Ser)
c.9808G>T (p.Ala3270Ser)
c.9853G>T (p.Ala3285Ser)
c.1135G>T (p.Ala379Ser)
c.244+479G>T
n.1336G>T
c.9757G>T (p.Ala3253Ser)
c.9736G>T (p.Ala3246Ser)
c.9672+479G>T (n.9672+479G>T)
c.9649G>T (p.Ala3217Ser)
c.9643G>T (p.Ala3215Ser)
c.8083G>T (p.Ala2695Ser)
c.7576G>T (p.Ala2526Ser)
c.3043G>T (p.Ala1015Ser)
c.9781G>T (p.Ala3261Ser)
c.9730G>T (p.Ala3244Ser)
n.10291G>T
6g.152368992C=CA1673300207SYNE1c.1138G= (p.Ala380=)
c.9787G= (p.Ala3263=)
c.9808G= (p.Ala3270=)
c.9853G= (p.Ala3285=)
c.1135G= (p.Ala379=)
c.244+479G=
n.1336G=
c.9757G= (p.Ala3253=)
c.9736G= (p.Ala3246=)
c.9672+479G= (n.9672+479G=)
c.9649G= (p.Ala3217=)
c.9643G= (p.Ala3215=)
c.8083G= (p.Ala2695=)
c.7576G= (p.Ala2526=)
c.3043G= (p.Ala1015=)
c.9781G= (p.Ala3261=)
c.9730G= (p.Ala3244=)
n.10291G=
6g.152368992C>GCA366137105SYNE1c.1138G>C (p.Ala380Pro)
c.9787G>C (p.Ala3263Pro)
c.9808G>C (p.Ala3270Pro)
c.9853G>C (p.Ala3285Pro)
c.1135G>C (p.Ala379Pro)
c.244+479G>C
n.1336G>C
c.9757G>C (p.Ala3253Pro)
c.9736G>C (p.Ala3246Pro)
c.9672+479G>C (n.9672+479G>C)
c.9649G>C (p.Ala3217Pro)
c.9643G>C (p.Ala3215Pro)
c.8083G>C (p.Ala2695Pro)
c.7576G>C (p.Ala2526Pro)
c.3043G>C (p.Ala1015Pro)
c.9781G>C (p.Ala3261Pro)
c.9730G>C (p.Ala3244Pro)
n.10291G>C
6g.152368992C>TCA366137106SYNE1c.1138G>A (p.Ala380Thr)
c.9787G>A (p.Ala3263Thr)
c.9808G>A (p.Ala3270Thr)
c.9853G>A (p.Ala3285Thr)
c.1135G>A (p.Ala379Thr)
c.244+479G>A
n.1336G>A
c.9757G>A (p.Ala3253Thr)
c.9736G>A (p.Ala3246Thr)
c.9672+479G>A (n.9672+479G>A)
c.9649G>A (p.Ala3217Thr)
c.9643G>A (p.Ala3215Thr)
c.8083G>A (p.Ala2695Thr)
c.7576G>A (p.Ala2526Thr)
c.3043G>A (p.Ala1015Thr)
c.9781G>A (p.Ala3261Thr)
c.9730G>A (p.Ala3244Thr)
n.10291G>A
 dbSNP gnomAD v2 gnomAD v4
6g.152368993T>ACA452760896SYNE1c.1137A>T (p.Leu379=)
c.9786A>T (p.Leu3262=)
c.9807A>T (p.Leu3269=)
c.9852A>T (p.Leu3284=)
c.1134A>T (p.Leu378=)
c.244+478A>T
n.1335A>T
c.9756A>T (p.Leu3252=)
c.9735A>T (p.Leu3245=)
c.9672+478A>T (n.9672+478A>T)
c.9648A>T (p.Leu3216=)
c.9642A>T (p.Leu3214=)
c.8082A>T (p.Leu2694=)
c.7575A>T (p.Leu2525=)
c.3042A>T (p.Leu1014=)
c.9780A>T (p.Leu3260=)
c.9729A>T (p.Leu3243=)
n.10290A>T

Number of alleles fetched