Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152369075T>ACA366137648SYNE1c.1055A>T (p.Glu352Val)
c.9704A>T (p.Glu3235Val)
c.9725A>T (p.Glu3242Val)
c.9770A>T (p.Glu3257Val)
c.1052A>T (p.Glu351Val)
c.244+396A>T
n.1253A>T
c.9674A>T (p.Glu3225Val)
c.9653A>T (p.Glu3218Val)
c.9672+396A>T (n.9672+396A>T)
c.9566A>T (p.Glu3189Val)
c.9560A>T (p.Glu3187Val)
c.8000A>T (p.Glu2667Val)
c.7493A>T (p.Glu2498Val)
c.2960A>T (p.Glu987Val)
c.9698A>T (p.Glu3233Val)
c.9647A>T (p.Glu3216Val)
n.10208A>T
6g.152369075T>CCA366137646SYNE1c.1055A>G (p.Glu352Gly)
c.9704A>G (p.Glu3235Gly)
c.9725A>G (p.Glu3242Gly)
c.9770A>G (p.Glu3257Gly)
c.1052A>G (p.Glu351Gly)
c.244+396A>G
n.1253A>G
c.9674A>G (p.Glu3225Gly)
c.9653A>G (p.Glu3218Gly)
c.9672+396A>G (n.9672+396A>G)
c.9566A>G (p.Glu3189Gly)
c.9560A>G (p.Glu3187Gly)
c.8000A>G (p.Glu2667Gly)
c.7493A>G (p.Glu2498Gly)
c.2960A>G (p.Glu987Gly)
c.9698A>G (p.Glu3233Gly)
c.9647A>G (p.Glu3216Gly)
n.10208A>G
 dbSNP
6g.152369075T>GCA366137644SYNE1c.1055A>C (p.Glu352Ala)
c.9704A>C (p.Glu3235Ala)
c.9725A>C (p.Glu3242Ala)
c.9770A>C (p.Glu3257Ala)
c.1052A>C (p.Glu351Ala)
c.244+396A>C
n.1253A>C
c.9674A>C (p.Glu3225Ala)
c.9653A>C (p.Glu3218Ala)
c.9672+396A>C (n.9672+396A>C)
c.9566A>C (p.Glu3189Ala)
c.9560A>C (p.Glu3187Ala)
c.8000A>C (p.Glu2667Ala)
c.7493A>C (p.Glu2498Ala)
c.2960A>C (p.Glu987Ala)
c.9698A>C (p.Glu3233Ala)
c.9647A>C (p.Glu3216Ala)
n.10208A>C
6g.152369075T=CA1673300252SYNE1c.1055A= (p.Glu352=)
c.9704A= (p.Glu3235=)
c.9725A= (p.Glu3242=)
c.9770A= (p.Glu3257=)
c.1052A= (p.Glu351=)
c.244+396A=
n.1253A=
c.9674A= (p.Glu3225=)
c.9653A= (p.Glu3218=)
c.9672+396A= (n.9672+396A=)
c.9566A= (p.Glu3189=)
c.9560A= (p.Glu3187=)
c.8000A= (p.Glu2667=)
c.7493A= (p.Glu2498=)
c.2960A= (p.Glu987=)
c.9698A= (p.Glu3233=)
c.9647A= (p.Glu3216=)
n.10208A=
6g.152369076C>ACA366137650SYNE1c.1054G>T (p.Glu352Ter)
c.9703G>T (p.Glu3235Ter)
c.9724G>T (p.Glu3242Ter)
c.9769G>T (p.Glu3257Ter)
c.1051G>T (p.Glu351Ter)
c.244+395G>T
n.1252G>T
c.9673G>T (p.Glu3225Ter)
c.9652G>T (p.Glu3218Ter)
c.9672+395G>T (n.9672+395G>T)
c.9565G>T (p.Glu3189Ter)
c.9559G>T (p.Glu3187Ter)
c.7999G>T (p.Glu2667Ter)
c.7492G>T (p.Glu2498Ter)
c.2959G>T (p.Glu987Ter)
c.9697G>T (p.Glu3233Ter)
c.9646G>T (p.Glu3216Ter)
n.10207G>T
6g.152369076C=CA1673300253SYNE1c.1054G= (p.Glu352=)
c.9703G= (p.Glu3235=)
c.9724G= (p.Glu3242=)
c.9769G= (p.Glu3257=)
c.1051G= (p.Glu351=)
c.244+395G=
n.1252G=
c.9673G= (p.Glu3225=)
c.9652G= (p.Glu3218=)
c.9672+395G= (n.9672+395G=)
c.9565G= (p.Glu3189=)
c.9559G= (p.Glu3187=)
c.7999G= (p.Glu2667=)
c.7492G= (p.Glu2498=)
c.2959G= (p.Glu987=)
c.9697G= (p.Glu3233=)
c.9646G= (p.Glu3216=)
n.10207G=
6g.152369076C>GCA150218315SYNE1c.1054G>C (p.Glu352Gln)
c.9703G>C (p.Glu3235Gln)
c.9724G>C (p.Glu3242Gln)
c.9769G>C (p.Glu3257Gln)
c.1051G>C (p.Glu351Gln)
c.244+395G>C
n.1252G>C
c.9673G>C (p.Glu3225Gln)
c.9652G>C (p.Glu3218Gln)
c.9672+395G>C (n.9672+395G>C)
c.9565G>C (p.Glu3189Gln)
c.9559G>C (p.Glu3187Gln)
c.7999G>C (p.Glu2667Gln)
c.7492G>C (p.Glu2498Gln)
c.2959G>C (p.Glu987Gln)
c.9697G>C (p.Glu3233Gln)
c.9646G>C (p.Glu3216Gln)
n.10207G>C
 ClinVar dbSNP gnomAD v4
6g.152369076C>TCA366137652SYNE1c.1054G>A (p.Glu352Lys)
c.9703G>A (p.Glu3235Lys)
c.9724G>A (p.Glu3242Lys)
c.9769G>A (p.Glu3257Lys)
c.1051G>A (p.Glu351Lys)
c.244+395G>A
n.1252G>A
c.9673G>A (p.Glu3225Lys)
c.9652G>A (p.Glu3218Lys)
c.9672+395G>A (n.9672+395G>A)
c.9565G>A (p.Glu3189Lys)
c.9559G>A (p.Glu3187Lys)
c.7999G>A (p.Glu2667Lys)
c.7492G>A (p.Glu2498Lys)
c.2959G>A (p.Glu987Lys)
c.9697G>A (p.Glu3233Lys)
c.9646G>A (p.Glu3216Lys)
n.10207G>A
6g.152369077T>ACA366137654SYNE1c.1053A>T (p.Lys351Asn)
c.9702A>T (p.Lys3234Asn)
c.9723A>T (p.Lys3241Asn)
c.9768A>T (p.Lys3256Asn)
c.1050A>T (p.Lys350Asn)
c.244+394A>T
n.1251A>T
c.9672A>T (p.Lys3224Asn)
c.9651A>T (p.Lys3217Asn)
c.9672+394A>T (n.9672+394A>T)
c.9564A>T (p.Lys3188Asn)
c.9558A>T (p.Lys3186Asn)
c.7998A>T (p.Lys2666Asn)
c.7491A>T (p.Lys2497Asn)
c.2958A>T (p.Lys986Asn)
c.9696A>T (p.Lys3232Asn)
c.9645A>T (p.Lys3215Asn)
n.10206A>T
6g.152369077T>CCA452761272SYNE1c.1053A>G (p.Lys351=)
c.9702A>G (p.Lys3234=)
c.9723A>G (p.Lys3241=)
c.9768A>G (p.Lys3256=)
c.1050A>G (p.Lys350=)
c.244+394A>G
n.1251A>G
c.9672A>G (p.Lys3224=)
c.9651A>G (p.Lys3217=)
c.9672+394A>G (n.9672+394A>G)
c.9564A>G (p.Lys3188=)
c.9558A>G (p.Lys3186=)
c.7998A>G (p.Lys2666=)
c.7491A>G (p.Lys2497=)
c.2958A>G (p.Lys986=)
c.9696A>G (p.Lys3232=)
c.9645A>G (p.Lys3215=)
n.10206A>G
6g.152369077T>GCA366137655SYNE1c.1053A>C (p.Lys351Asn)
c.9702A>C (p.Lys3234Asn)
c.9723A>C (p.Lys3241Asn)
c.9768A>C (p.Lys3256Asn)
c.1050A>C (p.Lys350Asn)
c.244+394A>C
n.1251A>C
c.9672A>C (p.Lys3224Asn)
c.9651A>C (p.Lys3217Asn)
c.9672+394A>C (n.9672+394A>C)
c.9564A>C (p.Lys3188Asn)
c.9558A>C (p.Lys3186Asn)
c.7998A>C (p.Lys2666Asn)
c.7491A>C (p.Lys2497Asn)
c.2958A>C (p.Lys986Asn)
c.9696A>C (p.Lys3232Asn)
c.9645A>C (p.Lys3215Asn)
n.10206A>C
 COSMIC COSMIC COSMIC
6g.152369078T>ACA366137656SYNE1c.1052A>T (p.Lys351Ile)
c.9701A>T (p.Lys3234Ile)
c.9722A>T (p.Lys3241Ile)
c.9767A>T (p.Lys3256Ile)
c.1049A>T (p.Lys350Ile)
c.244+393A>T
n.1250A>T
c.9671A>T (p.Lys3224Ile)
c.9650A>T (p.Lys3217Ile)
c.9672+393A>T (n.9672+393A>T)
c.9563A>T (p.Lys3188Ile)
c.9557A>T (p.Lys3186Ile)
c.7997A>T (p.Lys2666Ile)
c.7490A>T (p.Lys2497Ile)
c.2957A>T (p.Lys986Ile)
c.9695A>T (p.Lys3232Ile)
c.9644A>T (p.Lys3215Ile)
n.10205A>T
6g.152369078T>CCA366137657SYNE1c.1052A>G (p.Lys351Arg)
c.9701A>G (p.Lys3234Arg)
c.9722A>G (p.Lys3241Arg)
c.9767A>G (p.Lys3256Arg)
c.1049A>G (p.Lys350Arg)
c.244+393A>G
n.1250A>G
c.9671A>G (p.Lys3224Arg)
c.9650A>G (p.Lys3217Arg)
c.9672+393A>G (n.9672+393A>G)
c.9563A>G (p.Lys3188Arg)
c.9557A>G (p.Lys3186Arg)
c.7997A>G (p.Lys2666Arg)
c.7490A>G (p.Lys2497Arg)
c.2957A>G (p.Lys986Arg)
c.9695A>G (p.Lys3232Arg)
c.9644A>G (p.Lys3215Arg)
n.10205A>G
6g.152369078T>GCA366137659SYNE1c.1052A>C (p.Lys351Thr)
c.9701A>C (p.Lys3234Thr)
c.9722A>C (p.Lys3241Thr)
c.9767A>C (p.Lys3256Thr)
c.1049A>C (p.Lys350Thr)
c.244+393A>C
n.1250A>C
c.9671A>C (p.Lys3224Thr)
c.9650A>C (p.Lys3217Thr)
c.9672+393A>C (n.9672+393A>C)
c.9563A>C (p.Lys3188Thr)
c.9557A>C (p.Lys3186Thr)
c.7997A>C (p.Lys2666Thr)
c.7490A>C (p.Lys2497Thr)
c.2957A>C (p.Lys986Thr)
c.9695A>C (p.Lys3232Thr)
c.9644A>C (p.Lys3215Thr)
n.10205A>C
6g.152369078T=CA1673300254SYNE1c.1052A= (p.Lys351=)
c.9701A= (p.Lys3234=)
c.9722A= (p.Lys3241=)
c.9767A= (p.Lys3256=)
c.1049A= (p.Lys350=)
c.244+393A=
n.1250A=
c.9671A= (p.Lys3224=)
c.9650A= (p.Lys3217=)
c.9672+393A= (n.9672+393A=)
c.9563A= (p.Lys3188=)
c.9557A= (p.Lys3186=)
c.7997A= (p.Lys2666=)
c.7490A= (p.Lys2497=)
c.2957A= (p.Lys986=)
c.9695A= (p.Lys3232=)
c.9644A= (p.Lys3215=)
n.10205A=
6g.152369078_152369079insCTCAGTTTTACCA4057237SYNE1c.1051_1052insGTAAAACTGAG (p.Lys351SerfsTer33)
c.9700_9701insGTAAAACTGAG (p.Lys3234SerfsTer33)
c.9721_9722insGTAAAACTGAG (p.Lys3241SerfsTer33)
c.9766_9767insGTAAAACTGAG (p.Lys3256SerfsTer33)
c.1048_1049insGTAAAACTGAG (p.Lys350SerfsTer33)
c.244+392_244+393insGTAAAACTGAG
n.1249_1250insGTAAAACTGAG
c.9670_9671insGTAAAACTGAG (p.Lys3224SerfsTer33)
c.9649_9650insGTAAAACTGAG (p.Lys3217SerfsTer33)
c.9672+392_9672+393insGTAAAACTGAG (n.9672+392_9672+393insGTAAAACTGAG)
c.9562_9563insGTAAAACTGAG (p.Lys3188SerfsTer33)
c.9556_9557insGTAAAACTGAG (p.Lys3186SerfsTer33)
c.7996_7997insGTAAAACTGAG (p.Lys2666SerfsTer33)
c.7489_7490insGTAAAACTGAG (p.Lys2497SerfsTer33)
c.2956_2957insGTAAAACTGAG (p.Lys986SerfsTer33)
c.9694_9695insGTAAAACTGAG (p.Lys3232SerfsTer33)
c.9643_9644insGTAAAACTGAG (p.Lys3215SerfsTer33)
n.10204_10205insGTAAAACTGAG
 dbSNP ExAC
6g.152369079T>ACA366137664SYNE1c.1051A>T (p.Lys351Ter)
c.9700A>T (p.Lys3234Ter)
c.9721A>T (p.Lys3241Ter)
c.9766A>T (p.Lys3256Ter)
c.1048A>T (p.Lys350Ter)
c.244+392A>T
n.1249A>T
c.9670A>T (p.Lys3224Ter)
c.9649A>T (p.Lys3217Ter)
c.9672+392A>T (n.9672+392A>T)
c.9562A>T (p.Lys3188Ter)
c.9556A>T (p.Lys3186Ter)
c.7996A>T (p.Lys2666Ter)
c.7489A>T (p.Lys2497Ter)
c.2956A>T (p.Lys986Ter)
c.9694A>T (p.Lys3232Ter)
c.9643A>T (p.Lys3215Ter)
n.10204A>T
6g.152369079T>CCA366137665SYNE1c.1051A>G (p.Lys351Glu)
c.9700A>G (p.Lys3234Glu)
c.9721A>G (p.Lys3241Glu)
c.9766A>G (p.Lys3256Glu)
c.1048A>G (p.Lys350Glu)
c.244+392A>G
n.1249A>G
c.9670A>G (p.Lys3224Glu)
c.9649A>G (p.Lys3217Glu)
c.9672+392A>G (n.9672+392A>G)
c.9562A>G (p.Lys3188Glu)
c.9556A>G (p.Lys3186Glu)
c.7996A>G (p.Lys2666Glu)
c.7489A>G (p.Lys2497Glu)
c.2956A>G (p.Lys986Glu)
c.9694A>G (p.Lys3232Glu)
c.9643A>G (p.Lys3215Glu)
n.10204A>G
6g.152369079T>GCA366137667SYNE1c.1051A>C (p.Lys351Gln)
c.9700A>C (p.Lys3234Gln)
c.9721A>C (p.Lys3241Gln)
c.9766A>C (p.Lys3256Gln)
c.1048A>C (p.Lys350Gln)
c.244+392A>C
n.1249A>C
c.9670A>C (p.Lys3224Gln)
c.9649A>C (p.Lys3217Gln)
c.9672+392A>C (n.9672+392A>C)
c.9562A>C (p.Lys3188Gln)
c.9556A>C (p.Lys3186Gln)
c.7996A>C (p.Lys2666Gln)
c.7489A>C (p.Lys2497Gln)
c.2956A>C (p.Lys986Gln)
c.9694A>C (p.Lys3232Gln)
c.9643A>C (p.Lys3215Gln)
n.10204A>C
6g.152369080C>ACA452761285SYNE1c.1050G>T (p.Leu350=)
c.9699G>T (p.Leu3233=)
c.9720G>T (p.Leu3240=)
c.9765G>T (p.Leu3255=)
c.1047G>T (p.Leu349=)
c.244+391G>T
n.1248G>T
c.9669G>T (p.Leu3223=)
c.9648G>T (p.Leu3216=)
c.9672+391G>T (n.9672+391G>T)
c.9561G>T (p.Leu3187=)
c.9555G>T (p.Leu3185=)
c.7995G>T (p.Leu2665=)
c.7488G>T (p.Leu2496=)
c.2955G>T (p.Leu985=)
c.9693G>T (p.Leu3231=)
c.9642G>T (p.Leu3214=)
n.10203G>T
6g.152369080C>GCA452761283SYNE1c.1050G>C (p.Leu350=)
c.9699G>C (p.Leu3233=)
c.9720G>C (p.Leu3240=)
c.9765G>C (p.Leu3255=)
c.1047G>C (p.Leu349=)
c.244+391G>C
n.1248G>C
c.9669G>C (p.Leu3223=)
c.9648G>C (p.Leu3216=)
c.9672+391G>C (n.9672+391G>C)
c.9561G>C (p.Leu3187=)
c.9555G>C (p.Leu3185=)
c.7995G>C (p.Leu2665=)
c.7488G>C (p.Leu2496=)
c.2955G>C (p.Leu985=)
c.9693G>C (p.Leu3231=)
c.9642G>C (p.Leu3214=)
n.10203G>C
6g.152369080C>TCA452761281SYNE1c.1050G>A (p.Leu350=)
c.9699G>A (p.Leu3233=)
c.9720G>A (p.Leu3240=)
c.9765G>A (p.Leu3255=)
c.1047G>A (p.Leu349=)
c.244+391G>A
n.1248G>A
c.9669G>A (p.Leu3223=)
c.9648G>A (p.Leu3216=)
c.9672+391G>A (n.9672+391G>A)
c.9561G>A (p.Leu3187=)
c.9555G>A (p.Leu3185=)
c.7995G>A (p.Leu2665=)
c.7488G>A (p.Leu2496=)
c.2955G>A (p.Leu985=)
c.9693G>A (p.Leu3231=)
c.9642G>A (p.Leu3214=)
n.10203G>A
6g.152369081A>CCA366137676SYNE1c.1049T>G (p.Leu350Arg)
c.9698T>G (p.Leu3233Arg)
c.9719T>G (p.Leu3240Arg)
c.9764T>G (p.Leu3255Arg)
c.1046T>G (p.Leu349Arg)
c.244+390T>G
n.1247T>G
c.9668T>G (p.Leu3223Arg)
c.9647T>G (p.Leu3216Arg)
c.9672+390T>G (n.9672+390T>G)
c.9560T>G (p.Leu3187Arg)
c.9554T>G (p.Leu3185Arg)
c.7994T>G (p.Leu2665Arg)
c.7487T>G (p.Leu2496Arg)
c.2954T>G (p.Leu985Arg)
c.9692T>G (p.Leu3231Arg)
c.9641T>G (p.Leu3214Arg)
n.10202T>G
6g.152369081A>GCA366137674SYNE1c.1049T>C (p.Leu350Pro)
c.9698T>C (p.Leu3233Pro)
c.9719T>C (p.Leu3240Pro)
c.9764T>C (p.Leu3255Pro)
c.1046T>C (p.Leu349Pro)
c.244+390T>C
n.1247T>C
c.9668T>C (p.Leu3223Pro)
c.9647T>C (p.Leu3216Pro)
c.9672+390T>C (n.9672+390T>C)
c.9560T>C (p.Leu3187Pro)
c.9554T>C (p.Leu3185Pro)
c.7994T>C (p.Leu2665Pro)
c.7487T>C (p.Leu2496Pro)
c.2954T>C (p.Leu985Pro)
c.9692T>C (p.Leu3231Pro)
c.9641T>C (p.Leu3214Pro)
n.10202T>C
6g.152369081A>TCA366137671SYNE1c.1049T>A (p.Leu350Gln)
c.9698T>A (p.Leu3233Gln)
c.9719T>A (p.Leu3240Gln)
c.9764T>A (p.Leu3255Gln)
c.1046T>A (p.Leu349Gln)
c.244+390T>A
n.1247T>A
c.9668T>A (p.Leu3223Gln)
c.9647T>A (p.Leu3216Gln)
c.9672+390T>A (n.9672+390T>A)
c.9560T>A (p.Leu3187Gln)
c.9554T>A (p.Leu3185Gln)
c.7994T>A (p.Leu2665Gln)
c.7487T>A (p.Leu2496Gln)
c.2954T>A (p.Leu985Gln)
c.9692T>A (p.Leu3231Gln)
c.9641T>A (p.Leu3214Gln)
n.10202T>A
6g.152369082G>ACA4057238SYNE1c.1048C>T (p.Leu350=)
c.9697C>T (p.Leu3233=)
c.9718C>T (p.Leu3240=)
c.9763C>T (p.Leu3255=)
c.1045C>T (p.Leu349=)
c.244+389C>T
n.1246C>T
c.9667C>T (p.Leu3223=)
c.9646C>T (p.Leu3216=)
c.9672+389C>T (n.9672+389C>T)
c.9559C>T (p.Leu3187=)
c.9553C>T (p.Leu3185=)
c.7993C>T (p.Leu2665=)
c.7486C>T (p.Leu2496=)
c.2953C>T (p.Leu985=)
c.9691C>T (p.Leu3231=)
c.9640C>T (p.Leu3214=)
n.10201C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152369082G>CCA366137678SYNE1c.1048C>G (p.Leu350Val)
c.9697C>G (p.Leu3233Val)
c.9718C>G (p.Leu3240Val)
c.9763C>G (p.Leu3255Val)
c.1045C>G (p.Leu349Val)
c.244+389C>G
n.1246C>G
c.9667C>G (p.Leu3223Val)
c.9646C>G (p.Leu3216Val)
c.9672+389C>G (n.9672+389C>G)
c.9559C>G (p.Leu3187Val)
c.9553C>G (p.Leu3185Val)
c.7993C>G (p.Leu2665Val)
c.7486C>G (p.Leu2496Val)
c.2953C>G (p.Leu985Val)
c.9691C>G (p.Leu3231Val)
c.9640C>G (p.Leu3214Val)
n.10201C>G
6g.152369082G=CA1673300255SYNE1c.1048C= (p.Leu350=)
c.9697C= (p.Leu3233=)
c.9718C= (p.Leu3240=)
c.9763C= (p.Leu3255=)
c.1045C= (p.Leu349=)
c.244+389C=
n.1246C=
c.9667C= (p.Leu3223=)
c.9646C= (p.Leu3216=)
c.9672+389C= (n.9672+389C=)
c.9559C= (p.Leu3187=)
c.9553C= (p.Leu3185=)
c.7993C= (p.Leu2665=)
c.7486C= (p.Leu2496=)
c.2953C= (p.Leu985=)
c.9691C= (p.Leu3231=)
c.9640C= (p.Leu3214=)
n.10201C=
6g.152369082G>TCA366137679SYNE1c.1048C>A (p.Leu350Met)
c.9697C>A (p.Leu3233Met)
c.9718C>A (p.Leu3240Met)
c.9763C>A (p.Leu3255Met)
c.1045C>A (p.Leu349Met)
c.244+389C>A
n.1246C>A
c.9667C>A (p.Leu3223Met)
c.9646C>A (p.Leu3216Met)
c.9672+389C>A (n.9672+389C>A)
c.9559C>A (p.Leu3187Met)
c.9553C>A (p.Leu3185Met)
c.7993C>A (p.Leu2665Met)
c.7486C>A (p.Leu2496Met)
c.2953C>A (p.Leu985Met)
c.9691C>A (p.Leu3231Met)
c.9640C>A (p.Leu3214Met)
n.10201C>A
6g.152369083C>ACA366137682SYNE1c.1047G>T (p.Arg349Ser)
c.9696G>T (p.Arg3232Ser)
c.9717G>T (p.Arg3239Ser)
c.9762G>T (p.Arg3254Ser)
c.1044G>T (p.Arg348Ser)
c.244+388G>T
n.1245G>T
c.9666G>T (p.Arg3222Ser)
c.9645G>T (p.Arg3215Ser)
c.9672+388G>T (n.9672+388G>T)
c.9558G>T (p.Arg3186Ser)
c.9552G>T (p.Arg3184Ser)
c.7992G>T (p.Arg2664Ser)
c.7485G>T (p.Arg2495Ser)
c.2952G>T (p.Arg984Ser)
c.9690G>T (p.Arg3230Ser)
c.9639G>T (p.Arg3213Ser)
n.10200G>T
 gnomAD v4
6g.152369083C=CA1673300256SYNE1c.1047G= (p.Arg349=)
c.9696G= (p.Arg3232=)
c.9717G= (p.Arg3239=)
c.9762G= (p.Arg3254=)
c.1044G= (p.Arg348=)
c.244+388G=
n.1245G=
c.9666G= (p.Arg3222=)
c.9645G= (p.Arg3215=)
c.9672+388G= (n.9672+388G=)
c.9558G= (p.Arg3186=)
c.9552G= (p.Arg3184=)
c.7992G= (p.Arg2664=)
c.7485G= (p.Arg2495=)
c.2952G= (p.Arg984=)
c.9690G= (p.Arg3230=)
c.9639G= (p.Arg3213=)
n.10200G=
6g.152369083C>GCA366137684SYNE1c.1047G>C (p.Arg349Ser)
c.9696G>C (p.Arg3232Ser)
c.9717G>C (p.Arg3239Ser)
c.9762G>C (p.Arg3254Ser)
c.1044G>C (p.Arg348Ser)
c.244+388G>C
n.1245G>C
c.9666G>C (p.Arg3222Ser)
c.9645G>C (p.Arg3215Ser)
c.9672+388G>C (n.9672+388G>C)
c.9558G>C (p.Arg3186Ser)
c.9552G>C (p.Arg3184Ser)
c.7992G>C (p.Arg2664Ser)
c.7485G>C (p.Arg2495Ser)
c.2952G>C (p.Arg984Ser)
c.9690G>C (p.Arg3230Ser)
c.9639G>C (p.Arg3213Ser)
n.10200G>C
6g.152369083C>TCA4057239SYNE1c.1047G>A (p.Arg349=)
c.9696G>A (p.Arg3232=)
c.9717G>A (p.Arg3239=)
c.9762G>A (p.Arg3254=)
c.1044G>A (p.Arg348=)
c.244+388G>A
n.1245G>A
c.9666G>A (p.Arg3222=)
c.9645G>A (p.Arg3215=)
c.9672+388G>A (n.9672+388G>A)
c.9558G>A (p.Arg3186=)
c.9552G>A (p.Arg3184=)
c.7992G>A (p.Arg2664=)
c.7485G>A (p.Arg2495=)
c.2952G>A (p.Arg984=)
c.9690G>A (p.Arg3230=)
c.9639G>A (p.Arg3213=)
n.10200G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152369084C>ACA366137687SYNE1c.1046G>T (p.Arg349Met)
c.9695G>T (p.Arg3232Met)
c.9716G>T (p.Arg3239Met)
c.9761G>T (p.Arg3254Met)
c.1043G>T (p.Arg348Met)
c.244+387G>T
n.1244G>T
c.9665G>T (p.Arg3222Met)
c.9644G>T (p.Arg3215Met)
c.9672+387G>T (n.9672+387G>T)
c.9557G>T (p.Arg3186Met)
c.9551G>T (p.Arg3184Met)
c.7991G>T (p.Arg2664Met)
c.7484G>T (p.Arg2495Met)
c.2951G>T (p.Arg984Met)
c.9689G>T (p.Arg3230Met)
c.9638G>T (p.Arg3213Met)
n.10199G>T
6g.152369084C=CA1673300257SYNE1c.1046G= (p.Arg349=)
c.9695G= (p.Arg3232=)
c.9716G= (p.Arg3239=)
c.9761G= (p.Arg3254=)
c.1043G= (p.Arg348=)
c.244+387G=
n.1244G=
c.9665G= (p.Arg3222=)
c.9644G= (p.Arg3215=)
c.9672+387G= (n.9672+387G=)
c.9557G= (p.Arg3186=)
c.9551G= (p.Arg3184=)
c.7991G= (p.Arg2664=)
c.7484G= (p.Arg2495=)
c.2951G= (p.Arg984=)
c.9689G= (p.Arg3230=)
c.9638G= (p.Arg3213=)
n.10199G=
6g.152369084C>GCA366137689SYNE1c.1046G>C (p.Arg349Thr)
c.9695G>C (p.Arg3232Thr)
c.9716G>C (p.Arg3239Thr)
c.9761G>C (p.Arg3254Thr)
c.1043G>C (p.Arg348Thr)
c.244+387G>C
n.1244G>C
c.9665G>C (p.Arg3222Thr)
c.9644G>C (p.Arg3215Thr)
c.9672+387G>C (n.9672+387G>C)
c.9557G>C (p.Arg3186Thr)
c.9551G>C (p.Arg3184Thr)
c.7991G>C (p.Arg2664Thr)
c.7484G>C (p.Arg2495Thr)
c.2951G>C (p.Arg984Thr)
c.9689G>C (p.Arg3230Thr)
c.9638G>C (p.Arg3213Thr)
n.10199G>C
6g.152369084C>TCA4057240SYNE1c.1046G>A (p.Arg349Lys)
c.9695G>A (p.Arg3232Lys)
c.9716G>A (p.Arg3239Lys)
c.9761G>A (p.Arg3254Lys)
c.1043G>A (p.Arg348Lys)
c.244+387G>A
n.1244G>A
c.9665G>A (p.Arg3222Lys)
c.9644G>A (p.Arg3215Lys)
c.9672+387G>A (n.9672+387G>A)
c.9557G>A (p.Arg3186Lys)
c.9551G>A (p.Arg3184Lys)
c.7991G>A (p.Arg2664Lys)
c.7484G>A (p.Arg2495Lys)
c.2951G>A (p.Arg984Lys)
c.9689G>A (p.Arg3230Lys)
c.9638G>A (p.Arg3213Lys)
n.10199G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152369085T>ACA4057241SYNE1c.1045A>T (p.Arg349Trp)
c.9694A>T (p.Arg3232Trp)
c.9715A>T (p.Arg3239Trp)
c.9760A>T (p.Arg3254Trp)
c.1042A>T (p.Arg348Trp)
c.244+386A>T
n.1243A>T
c.9664A>T (p.Arg3222Trp)
c.9643A>T (p.Arg3215Trp)
c.9672+386A>T (n.9672+386A>T)
c.9556A>T (p.Arg3186Trp)
c.9550A>T (p.Arg3184Trp)
c.7990A>T (p.Arg2664Trp)
c.7483A>T (p.Arg2495Trp)
c.2950A>T (p.Arg984Trp)
c.9688A>T (p.Arg3230Trp)
c.9637A>T (p.Arg3213Trp)
n.10198A>T
 dbSNP ExAC
6g.152369085T>CCA366137691SYNE1c.1045A>G (p.Arg349Gly)
c.9694A>G (p.Arg3232Gly)
c.9715A>G (p.Arg3239Gly)
c.9760A>G (p.Arg3254Gly)
c.1042A>G (p.Arg348Gly)
c.244+386A>G
n.1243A>G
c.9664A>G (p.Arg3222Gly)
c.9643A>G (p.Arg3215Gly)
c.9672+386A>G (n.9672+386A>G)
c.9556A>G (p.Arg3186Gly)
c.9550A>G (p.Arg3184Gly)
c.7990A>G (p.Arg2664Gly)
c.7483A>G (p.Arg2495Gly)
c.2950A>G (p.Arg984Gly)
c.9688A>G (p.Arg3230Gly)
c.9637A>G (p.Arg3213Gly)
n.10198A>G
6g.152369085T>GCA452761303SYNE1c.1045A>C (p.Arg349=)
c.9694A>C (p.Arg3232=)
c.9715A>C (p.Arg3239=)
c.9760A>C (p.Arg3254=)
c.1042A>C (p.Arg348=)
c.244+386A>C
n.1243A>C
c.9664A>C (p.Arg3222=)
c.9643A>C (p.Arg3215=)
c.9672+386A>C (n.9672+386A>C)
c.9556A>C (p.Arg3186=)
c.9550A>C (p.Arg3184=)
c.7990A>C (p.Arg2664=)
c.7483A>C (p.Arg2495=)
c.2950A>C (p.Arg984=)
c.9688A>C (p.Arg3230=)
c.9637A>C (p.Arg3213=)
n.10198A>C
6g.152369085T=CA1673300258SYNE1c.1045A= (p.Arg349=)
c.9694A= (p.Arg3232=)
c.9715A= (p.Arg3239=)
c.9760A= (p.Arg3254=)
c.1042A= (p.Arg348=)
c.244+386A=
n.1243A=
c.9664A= (p.Arg3222=)
c.9643A= (p.Arg3215=)
c.9672+386A= (n.9672+386A=)
c.9556A= (p.Arg3186=)
c.9550A= (p.Arg3184=)
c.7990A= (p.Arg2664=)
c.7483A= (p.Arg2495=)
c.2950A= (p.Arg984=)
c.9688A= (p.Arg3230=)
c.9637A= (p.Arg3213=)
n.10198A=
6g.152369086G>ACA4057242SYNE1c.1044C>T (p.Asn348=)
c.9693C>T (p.Asn3231=)
c.9714C>T (p.Asn3238=)
c.9759C>T (p.Asn3253=)
c.1041C>T (p.Asn347=)
c.244+385C>T
n.1242C>T
c.9663C>T (p.Asn3221=)
c.9642C>T (p.Asn3214=)
c.9672+385C>T (n.9672+385C>T)
c.9555C>T (p.Asn3185=)
c.9549C>T (p.Asn3183=)
c.7989C>T (p.Asn2663=)
c.7482C>T (p.Asn2494=)
c.2949C>T (p.Asn983=)
c.9687C>T (p.Asn3229=)
c.9636C>T (p.Asn3212=)
n.10197C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152369086G>CCA150218355SYNE1c.1044C>G (p.Asn348Lys)
c.9693C>G (p.Asn3231Lys)
c.9714C>G (p.Asn3238Lys)
c.9759C>G (p.Asn3253Lys)
c.1041C>G (p.Asn347Lys)
c.244+385C>G
n.1242C>G
c.9663C>G (p.Asn3221Lys)
c.9642C>G (p.Asn3214Lys)
c.9672+385C>G (n.9672+385C>G)
c.9555C>G (p.Asn3185Lys)
c.9549C>G (p.Asn3183Lys)
c.7989C>G (p.Asn2663Lys)
c.7482C>G (p.Asn2494Lys)
c.2949C>G (p.Asn983Lys)
c.9687C>G (p.Asn3229Lys)
c.9636C>G (p.Asn3212Lys)
n.10197C>G
 dbSNP gnomAD v4
6g.152369086G=CA1673300259SYNE1c.1044C= (p.Asn348=)
c.9693C= (p.Asn3231=)
c.9714C= (p.Asn3238=)
c.9759C= (p.Asn3253=)
c.1041C= (p.Asn347=)
c.244+385C=
n.1242C=
c.9663C= (p.Asn3221=)
c.9642C= (p.Asn3214=)
c.9672+385C= (n.9672+385C=)
c.9555C= (p.Asn3185=)
c.9549C= (p.Asn3183=)
c.7989C= (p.Asn2663=)
c.7482C= (p.Asn2494=)
c.2949C= (p.Asn983=)
c.9687C= (p.Asn3229=)
c.9636C= (p.Asn3212=)
n.10197C=
6g.152369086G>TCA366137696SYNE1c.1044C>A (p.Asn348Lys)
c.9693C>A (p.Asn3231Lys)
c.9714C>A (p.Asn3238Lys)
c.9759C>A (p.Asn3253Lys)
c.1041C>A (p.Asn347Lys)
c.244+385C>A
n.1242C>A
c.9663C>A (p.Asn3221Lys)
c.9642C>A (p.Asn3214Lys)
c.9672+385C>A (n.9672+385C>A)
c.9555C>A (p.Asn3185Lys)
c.9549C>A (p.Asn3183Lys)
c.7989C>A (p.Asn2663Lys)
c.7482C>A (p.Asn2494Lys)
c.2949C>A (p.Asn983Lys)
c.9687C>A (p.Asn3229Lys)
c.9636C>A (p.Asn3212Lys)
n.10197C>A
 gnomAD v4
6g.152369087T>ACA366137701SYNE1c.1043A>T (p.Asn348Ile)
c.9692A>T (p.Asn3231Ile)
c.9713A>T (p.Asn3238Ile)
c.9758A>T (p.Asn3253Ile)
c.1040A>T (p.Asn347Ile)
c.244+384A>T
n.1241A>T
c.9662A>T (p.Asn3221Ile)
c.9641A>T (p.Asn3214Ile)
c.9672+384A>T (n.9672+384A>T)
c.9554A>T (p.Asn3185Ile)
c.9548A>T (p.Asn3183Ile)
c.7988A>T (p.Asn2663Ile)
c.7481A>T (p.Asn2494Ile)
c.2948A>T (p.Asn983Ile)
c.9686A>T (p.Asn3229Ile)
c.9635A>T (p.Asn3212Ile)
n.10196A>T
6g.152369087T>CCA366137699SYNE1c.1043A>G (p.Asn348Ser)
c.9692A>G (p.Asn3231Ser)
c.9713A>G (p.Asn3238Ser)
c.9758A>G (p.Asn3253Ser)
c.1040A>G (p.Asn347Ser)
c.244+384A>G
n.1241A>G
c.9662A>G (p.Asn3221Ser)
c.9641A>G (p.Asn3214Ser)
c.9672+384A>G (n.9672+384A>G)
c.9554A>G (p.Asn3185Ser)
c.9548A>G (p.Asn3183Ser)
c.7988A>G (p.Asn2663Ser)
c.7481A>G (p.Asn2494Ser)
c.2948A>G (p.Asn983Ser)
c.9686A>G (p.Asn3229Ser)
c.9635A>G (p.Asn3212Ser)
n.10196A>G
6g.152369087T>GCA366137698SYNE1c.1043A>C (p.Asn348Thr)
c.9692A>C (p.Asn3231Thr)
c.9713A>C (p.Asn3238Thr)
c.9758A>C (p.Asn3253Thr)
c.1040A>C (p.Asn347Thr)
c.244+384A>C
n.1241A>C
c.9662A>C (p.Asn3221Thr)
c.9641A>C (p.Asn3214Thr)
c.9672+384A>C (n.9672+384A>C)
c.9554A>C (p.Asn3185Thr)
c.9548A>C (p.Asn3183Thr)
c.7988A>C (p.Asn2663Thr)
c.7481A>C (p.Asn2494Thr)
c.2948A>C (p.Asn983Thr)
c.9686A>C (p.Asn3229Thr)
c.9635A>C (p.Asn3212Thr)
n.10196A>C
6g.152369088T>ACA366137703SYNE1c.1042A>T (p.Asn348Tyr)
c.9691A>T (p.Asn3231Tyr)
c.9712A>T (p.Asn3238Tyr)
c.9757A>T (p.Asn3253Tyr)
c.1039A>T (p.Asn347Tyr)
c.244+383A>T
n.1240A>T
c.9661A>T (p.Asn3221Tyr)
c.9640A>T (p.Asn3214Tyr)
c.9672+383A>T (n.9672+383A>T)
c.9553A>T (p.Asn3185Tyr)
c.9547A>T (p.Asn3183Tyr)
c.7987A>T (p.Asn2663Tyr)
c.7480A>T (p.Asn2494Tyr)
c.2947A>T (p.Asn983Tyr)
c.9685A>T (p.Asn3229Tyr)
c.9634A>T (p.Asn3212Tyr)
n.10195A>T
6g.152369088T>CCA4057243SYNE1c.1042A>G (p.Asn348Asp)
c.9691A>G (p.Asn3231Asp)
c.9712A>G (p.Asn3238Asp)
c.9757A>G (p.Asn3253Asp)
c.1039A>G (p.Asn347Asp)
c.244+383A>G
n.1240A>G
c.9661A>G (p.Asn3221Asp)
c.9640A>G (p.Asn3214Asp)
c.9672+383A>G (n.9672+383A>G)
c.9553A>G (p.Asn3185Asp)
c.9547A>G (p.Asn3183Asp)
c.7987A>G (p.Asn2663Asp)
c.7480A>G (p.Asn2494Asp)
c.2947A>G (p.Asn983Asp)
c.9685A>G (p.Asn3229Asp)
c.9634A>G (p.Asn3212Asp)
n.10195A>G
 dbSNP ExAC

Number of alleles fetched