Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152139933A>GCA2680812931SYNE1c.1992+17T>C (n.1992+17T>C)
c.25458+17T>C (n.25458+17T>C)
c.25314+17T>C (n.25314+17T>C)
c.860+17T>C
c.1193+17T>C
c.1102+17T>C
c.1230+17T>C (n.1230+17T>C)
c.24243+17T>C (n.24243+17T>C)
n.2206+17T>C
c.4293+17T>C (n.4293+17T>C)
n.9150+17T>C
c.3396+17T>C (n.3396+17T>C)
n.9042+17T>C
n.2072+17T>C
n.4480+17T>C
n.2295+17T>C
c.1923+17T>C (n.1923+17T>C)
c.25563+17T>C (n.25563+17T>C)
c.25551+17T>C (n.25551+17T>C)
c.25542+17T>C (n.25542+17T>C)
c.25512+17T>C (n.25512+17T>C)
c.25548+17T>C (n.25548+17T>C)
c.25494+17T>C (n.25494+17T>C)
c.25491+17T>C (n.25491+17T>C)
c.25479+17T>C (n.25479+17T>C)
c.25422+17T>C (n.25422+17T>C)
c.25410+17T>C (n.25410+17T>C)
c.25407+17T>C (n.25407+17T>C)
c.25404+17T>C (n.25404+17T>C)
c.25560+17T>C (n.25560+17T>C)
c.25398+17T>C (n.25398+17T>C)
c.23838+17T>C (n.23838+17T>C)
c.23331+17T>C (n.23331+17T>C)
c.18798+17T>C (n.18798+17T>C)
c.2064+17T>C (n.2064+17T>C)
c.25536+17T>C (n.25536+17T>C)
c.25485+17T>C (n.25485+17T>C)
c.25338+17T>C (n.25338+17T>C)
 gnomAD v4
6g.152139934G>ACA1673206082SYNE1c.1992+16C>T (n.1992+16C>T)
c.25458+16C>T (n.25458+16C>T)
c.25314+16C>T (n.25314+16C>T)
c.860+16C>T
c.1193+16C>T
c.1102+16C>T
c.1230+16C>T (n.1230+16C>T)
c.24243+16C>T (n.24243+16C>T)
n.2206+16C>T
c.4293+16C>T (n.4293+16C>T)
n.9150+16C>T
c.3396+16C>T (n.3396+16C>T)
n.9042+16C>T
n.2072+16C>T
n.4480+16C>T
n.2295+16C>T
c.1923+16C>T (n.1923+16C>T)
c.25563+16C>T (n.25563+16C>T)
c.25551+16C>T (n.25551+16C>T)
c.25542+16C>T (n.25542+16C>T)
c.25512+16C>T (n.25512+16C>T)
c.25548+16C>T (n.25548+16C>T)
c.25494+16C>T (n.25494+16C>T)
c.25491+16C>T (n.25491+16C>T)
c.25479+16C>T (n.25479+16C>T)
c.25422+16C>T (n.25422+16C>T)
c.25410+16C>T (n.25410+16C>T)
c.25407+16C>T (n.25407+16C>T)
c.25404+16C>T (n.25404+16C>T)
c.25560+16C>T (n.25560+16C>T)
c.25398+16C>T (n.25398+16C>T)
c.23838+16C>T (n.23838+16C>T)
c.23331+16C>T (n.23331+16C>T)
c.18798+16C>T (n.18798+16C>T)
c.2064+16C>T (n.2064+16C>T)
c.25536+16C>T (n.25536+16C>T)
c.25485+16C>T (n.25485+16C>T)
c.25338+16C>T (n.25338+16C>T)
 dbSNP gnomAD v4
6g.152139934G=CA1673206081SYNE1c.1992+16C= (n.1992+16C=)
c.25458+16C= (n.25458+16C=)
c.25314+16C= (n.25314+16C=)
c.860+16C=
c.1193+16C=
c.1102+16C=
c.1230+16C= (n.1230+16C=)
c.24243+16C= (n.24243+16C=)
n.2206+16C=
c.4293+16C= (n.4293+16C=)
n.9150+16C=
c.3396+16C= (n.3396+16C=)
n.9042+16C=
n.2072+16C=
n.4480+16C=
n.2295+16C=
c.1923+16C= (n.1923+16C=)
c.25563+16C= (n.25563+16C=)
c.25551+16C= (n.25551+16C=)
c.25542+16C= (n.25542+16C=)
c.25512+16C= (n.25512+16C=)
c.25548+16C= (n.25548+16C=)
c.25494+16C= (n.25494+16C=)
c.25491+16C= (n.25491+16C=)
c.25479+16C= (n.25479+16C=)
c.25422+16C= (n.25422+16C=)
c.25410+16C= (n.25410+16C=)
c.25407+16C= (n.25407+16C=)
c.25404+16C= (n.25404+16C=)
c.25560+16C= (n.25560+16C=)
c.25398+16C= (n.25398+16C=)
c.23838+16C= (n.23838+16C=)
c.23331+16C= (n.23331+16C=)
c.18798+16C= (n.18798+16C=)
c.2064+16C= (n.2064+16C=)
c.25536+16C= (n.25536+16C=)
c.25485+16C= (n.25485+16C=)
c.25338+16C= (n.25338+16C=)
6g.152139935G>ACA4052842SYNE1c.1992+15C>T (n.1992+15C>T)
c.25458+15C>T (n.25458+15C>T)
c.25314+15C>T (n.25314+15C>T)
c.860+15C>T
c.1193+15C>T
c.1102+15C>T
c.1230+15C>T (n.1230+15C>T)
c.24243+15C>T (n.24243+15C>T)
n.2206+15C>T
c.4293+15C>T (n.4293+15C>T)
n.9150+15C>T
c.3396+15C>T (n.3396+15C>T)
n.9042+15C>T
n.2072+15C>T
n.4480+15C>T
n.2295+15C>T
c.1923+15C>T (n.1923+15C>T)
c.25563+15C>T (n.25563+15C>T)
c.25551+15C>T (n.25551+15C>T)
c.25542+15C>T (n.25542+15C>T)
c.25512+15C>T (n.25512+15C>T)
c.25548+15C>T (n.25548+15C>T)
c.25494+15C>T (n.25494+15C>T)
c.25491+15C>T (n.25491+15C>T)
c.25479+15C>T (n.25479+15C>T)
c.25422+15C>T (n.25422+15C>T)
c.25410+15C>T (n.25410+15C>T)
c.25407+15C>T (n.25407+15C>T)
c.25404+15C>T (n.25404+15C>T)
c.25560+15C>T (n.25560+15C>T)
c.25398+15C>T (n.25398+15C>T)
c.23838+15C>T (n.23838+15C>T)
c.23331+15C>T (n.23331+15C>T)
c.18798+15C>T (n.18798+15C>T)
c.2064+15C>T (n.2064+15C>T)
c.25536+15C>T (n.25536+15C>T)
c.25485+15C>T (n.25485+15C>T)
c.25338+15C>T (n.25338+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152139935G>CCA2578773164SYNE1c.1992+15C>G (n.1992+15C>G)
c.25458+15C>G (n.25458+15C>G)
c.25314+15C>G (n.25314+15C>G)
c.860+15C>G
c.1193+15C>G
c.1102+15C>G
c.1230+15C>G (n.1230+15C>G)
c.24243+15C>G (n.24243+15C>G)
n.2206+15C>G
c.4293+15C>G (n.4293+15C>G)
n.9150+15C>G
c.3396+15C>G (n.3396+15C>G)
n.9042+15C>G
n.2072+15C>G
n.4480+15C>G
n.2295+15C>G
c.1923+15C>G (n.1923+15C>G)
c.25563+15C>G (n.25563+15C>G)
c.25551+15C>G (n.25551+15C>G)
c.25542+15C>G (n.25542+15C>G)
c.25512+15C>G (n.25512+15C>G)
c.25548+15C>G (n.25548+15C>G)
c.25494+15C>G (n.25494+15C>G)
c.25491+15C>G (n.25491+15C>G)
c.25479+15C>G (n.25479+15C>G)
c.25422+15C>G (n.25422+15C>G)
c.25410+15C>G (n.25410+15C>G)
c.25407+15C>G (n.25407+15C>G)
c.25404+15C>G (n.25404+15C>G)
c.25560+15C>G (n.25560+15C>G)
c.25398+15C>G (n.25398+15C>G)
c.23838+15C>G (n.23838+15C>G)
c.23331+15C>G (n.23331+15C>G)
c.18798+15C>G (n.18798+15C>G)
c.2064+15C>G (n.2064+15C>G)
c.25536+15C>G (n.25536+15C>G)
c.25485+15C>G (n.25485+15C>G)
c.25338+15C>G (n.25338+15C>G)
6g.152139935G=CA1673206084SYNE1c.1992+15C= (n.1992+15C=)
c.25458+15C= (n.25458+15C=)
c.25314+15C= (n.25314+15C=)
c.860+15C=
c.1193+15C=
c.1102+15C=
c.1230+15C= (n.1230+15C=)
c.24243+15C= (n.24243+15C=)
n.2206+15C=
c.4293+15C= (n.4293+15C=)
n.9150+15C=
c.3396+15C= (n.3396+15C=)
n.9042+15C=
n.2072+15C=
n.4480+15C=
n.2295+15C=
c.1923+15C= (n.1923+15C=)
c.25563+15C= (n.25563+15C=)
c.25551+15C= (n.25551+15C=)
c.25542+15C= (n.25542+15C=)
c.25512+15C= (n.25512+15C=)
c.25548+15C= (n.25548+15C=)
c.25494+15C= (n.25494+15C=)
c.25491+15C= (n.25491+15C=)
c.25479+15C= (n.25479+15C=)
c.25422+15C= (n.25422+15C=)
c.25410+15C= (n.25410+15C=)
c.25407+15C= (n.25407+15C=)
c.25404+15C= (n.25404+15C=)
c.25560+15C= (n.25560+15C=)
c.25398+15C= (n.25398+15C=)
c.23838+15C= (n.23838+15C=)
c.23331+15C= (n.23331+15C=)
c.18798+15C= (n.18798+15C=)
c.2064+15C= (n.2064+15C=)
c.25536+15C= (n.25536+15C=)
c.25485+15C= (n.25485+15C=)
c.25338+15C= (n.25338+15C=)
6g.152139937A=CA1673206090SYNE1c.1992+13T= (n.1992+13T=)
c.25458+13T= (n.25458+13T=)
c.25314+13T= (n.25314+13T=)
c.860+13T=
c.1193+13T=
c.1102+13T=
c.1230+13T= (n.1230+13T=)
c.24243+13T= (n.24243+13T=)
n.2206+13T=
c.4293+13T= (n.4293+13T=)
n.9150+13T=
c.3396+13T= (n.3396+13T=)
n.9042+13T=
n.2072+13T=
n.4480+13T=
n.2295+13T=
c.1923+13T= (n.1923+13T=)
c.25563+13T= (n.25563+13T=)
c.25551+13T= (n.25551+13T=)
c.25542+13T= (n.25542+13T=)
c.25512+13T= (n.25512+13T=)
c.25548+13T= (n.25548+13T=)
c.25494+13T= (n.25494+13T=)
c.25491+13T= (n.25491+13T=)
c.25479+13T= (n.25479+13T=)
c.25422+13T= (n.25422+13T=)
c.25410+13T= (n.25410+13T=)
c.25407+13T= (n.25407+13T=)
c.25404+13T= (n.25404+13T=)
c.25560+13T= (n.25560+13T=)
c.25398+13T= (n.25398+13T=)
c.23838+13T= (n.23838+13T=)
c.23331+13T= (n.23331+13T=)
c.18798+13T= (n.18798+13T=)
c.2064+13T= (n.2064+13T=)
c.25536+13T= (n.25536+13T=)
c.25485+13T= (n.25485+13T=)
c.25338+13T= (n.25338+13T=)
6g.152139937A>CCA2680812932SYNE1c.1992+13T>G (n.1992+13T>G)
c.25458+13T>G (n.25458+13T>G)
c.25314+13T>G (n.25314+13T>G)
c.860+13T>G
c.1193+13T>G
c.1102+13T>G
c.1230+13T>G (n.1230+13T>G)
c.24243+13T>G (n.24243+13T>G)
n.2206+13T>G
c.4293+13T>G (n.4293+13T>G)
n.9150+13T>G
c.3396+13T>G (n.3396+13T>G)
n.9042+13T>G
n.2072+13T>G
n.4480+13T>G
n.2295+13T>G
c.1923+13T>G (n.1923+13T>G)
c.25563+13T>G (n.25563+13T>G)
c.25551+13T>G (n.25551+13T>G)
c.25542+13T>G (n.25542+13T>G)
c.25512+13T>G (n.25512+13T>G)
c.25548+13T>G (n.25548+13T>G)
c.25494+13T>G (n.25494+13T>G)
c.25491+13T>G (n.25491+13T>G)
c.25479+13T>G (n.25479+13T>G)
c.25422+13T>G (n.25422+13T>G)
c.25410+13T>G (n.25410+13T>G)
c.25407+13T>G (n.25407+13T>G)
c.25404+13T>G (n.25404+13T>G)
c.25560+13T>G (n.25560+13T>G)
c.25398+13T>G (n.25398+13T>G)
c.23838+13T>G (n.23838+13T>G)
c.23331+13T>G (n.23331+13T>G)
c.18798+13T>G (n.18798+13T>G)
c.2064+13T>G (n.2064+13T>G)
c.25536+13T>G (n.25536+13T>G)
c.25485+13T>G (n.25485+13T>G)
c.25338+13T>G (n.25338+13T>G)
 gnomAD v4
6g.152139937A>GCA4052843SYNE1c.1992+13T>C (n.1992+13T>C)
c.25458+13T>C (n.25458+13T>C)
c.25314+13T>C (n.25314+13T>C)
c.860+13T>C
c.1193+13T>C
c.1102+13T>C
c.1230+13T>C (n.1230+13T>C)
c.24243+13T>C (n.24243+13T>C)
n.2206+13T>C
c.4293+13T>C (n.4293+13T>C)
n.9150+13T>C
c.3396+13T>C (n.3396+13T>C)
n.9042+13T>C
n.2072+13T>C
n.4480+13T>C
n.2295+13T>C
c.1923+13T>C (n.1923+13T>C)
c.25563+13T>C (n.25563+13T>C)
c.25551+13T>C (n.25551+13T>C)
c.25542+13T>C (n.25542+13T>C)
c.25512+13T>C (n.25512+13T>C)
c.25548+13T>C (n.25548+13T>C)
c.25494+13T>C (n.25494+13T>C)
c.25491+13T>C (n.25491+13T>C)
c.25479+13T>C (n.25479+13T>C)
c.25422+13T>C (n.25422+13T>C)
c.25410+13T>C (n.25410+13T>C)
c.25407+13T>C (n.25407+13T>C)
c.25404+13T>C (n.25404+13T>C)
c.25560+13T>C (n.25560+13T>C)
c.25398+13T>C (n.25398+13T>C)
c.23838+13T>C (n.23838+13T>C)
c.23331+13T>C (n.23331+13T>C)
c.18798+13T>C (n.18798+13T>C)
c.2064+13T>C (n.2064+13T>C)
c.25536+13T>C (n.25536+13T>C)
c.25485+13T>C (n.25485+13T>C)
c.25338+13T>C (n.25338+13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152139937_152139953delinsAAGGGGCAGCTACCTTGCA1673206091SYNE1c.1989_1992+13delinsCAAGGTAGCTGCCCCTT
c.25455_25458+13delinsCAAGGTAGCTGCCCCTT
c.25311_25314+13delinsCAAGGTAGCTGCCCCTT
c.857_860+13delinsCAAGGTAGCTGCCCCTT
c.1190_1193+13delinsCAAGGTAGCTGCCCCTT
c.1099_1102+13delinsCAAGGTAGCTGCCCCTT
c.1227_1230+13delinsCAAGGTAGCTGCCCCTT
c.24240_24243+13delinsCAAGGTAGCTGCCCCTT
n.2203_2206+13delinsCAAGGTAGCTGCCCCTT
c.4290_4293+13delinsCAAGGTAGCTGCCCCTT
n.9147_9150+13delinsCAAGGTAGCTGCCCCTT
c.3393_3396+13delinsCAAGGTAGCTGCCCCTT
n.9039_9042+13delinsCAAGGTAGCTGCCCCTT
n.2069_2072+13delinsCAAGGTAGCTGCCCCTT
n.4477_4480+13delinsCAAGGTAGCTGCCCCTT
n.2292_2295+13delinsCAAGGTAGCTGCCCCTT
c.1920_1923+13delinsCAAGGTAGCTGCCCCTT
c.25560_25563+13delinsCAAGGTAGCTGCCCCTT
c.25548_25551+13delinsCAAGGTAGCTGCCCCTT
c.25539_25542+13delinsCAAGGTAGCTGCCCCTT
c.25509_25512+13delinsCAAGGTAGCTGCCCCTT
c.25545_25548+13delinsCAAGGTAGCTGCCCCTT
c.25491_25494+13delinsCAAGGTAGCTGCCCCTT
c.25488_25491+13delinsCAAGGTAGCTGCCCCTT
c.25476_25479+13delinsCAAGGTAGCTGCCCCTT
c.25419_25422+13delinsCAAGGTAGCTGCCCCTT
c.25407_25410+13delinsCAAGGTAGCTGCCCCTT
c.25404_25407+13delinsCAAGGTAGCTGCCCCTT
c.25401_25404+13delinsCAAGGTAGCTGCCCCTT
c.25557_25560+13delinsCAAGGTAGCTGCCCCTT
c.25395_25398+13delinsCAAGGTAGCTGCCCCTT
c.23835_23838+13delinsCAAGGTAGCTGCCCCTT
c.23328_23331+13delinsCAAGGTAGCTGCCCCTT
c.18795_18798+13delinsCAAGGTAGCTGCCCCTT
c.2061_2064+13delinsCAAGGTAGCTGCCCCTT
c.25533_25536+13delinsCAAGGTAGCTGCCCCTT
c.25482_25485+13delinsCAAGGTAGCTGCCCCTT
c.25335_25338+13delinsCAAGGTAGCTGCCCCTT
6g.152139940_152139955delCA4052844SYNE1c.1989_1992+12del
c.25455_25458+12del
c.25311_25314+12del
c.857_860+12del
c.1190_1193+12del
c.1099_1102+12del
c.1227_1230+12del
c.24240_24243+12del
n.2203_2206+12del
c.4290_4293+12del
n.9147_9150+12del
c.3393_3396+12del
n.9039_9042+12del
n.2069_2072+12del
n.4477_4480+12del
n.2292_2295+12del
c.1920_1923+12del
c.25560_25563+12del
c.25548_25551+12del
c.25539_25542+12del
c.25509_25512+12del
c.25545_25548+12del
c.25491_25494+12del
c.25488_25491+12del
c.25476_25479+12del
c.25419_25422+12del
c.25407_25410+12del
c.25404_25407+12del
c.25401_25404+12del
c.25557_25560+12del
c.25395_25398+12del
c.23835_23838+12del
c.23328_23331+12del
c.18795_18798+12del
c.2061_2064+12del
c.25533_25536+12del
c.25482_25485+12del
c.25335_25338+12del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152139939G>ACA2578773165SYNE1c.1992+11C>T (n.1992+11C>T)
c.25458+11C>T (n.25458+11C>T)
c.25314+11C>T (n.25314+11C>T)
c.860+11C>T
c.1193+11C>T
c.1102+11C>T
c.1230+11C>T (n.1230+11C>T)
c.24243+11C>T (n.24243+11C>T)
n.2206+11C>T
c.4293+11C>T (n.4293+11C>T)
n.9150+11C>T
c.3396+11C>T (n.3396+11C>T)
n.9042+11C>T
n.2072+11C>T
n.4480+11C>T
n.2295+11C>T
c.1923+11C>T (n.1923+11C>T)
c.25563+11C>T (n.25563+11C>T)
c.25551+11C>T (n.25551+11C>T)
c.25542+11C>T (n.25542+11C>T)
c.25512+11C>T (n.25512+11C>T)
c.25548+11C>T (n.25548+11C>T)
c.25494+11C>T (n.25494+11C>T)
c.25491+11C>T (n.25491+11C>T)
c.25479+11C>T (n.25479+11C>T)
c.25422+11C>T (n.25422+11C>T)
c.25410+11C>T (n.25410+11C>T)
c.25407+11C>T (n.25407+11C>T)
c.25404+11C>T (n.25404+11C>T)
c.25560+11C>T (n.25560+11C>T)
c.25398+11C>T (n.25398+11C>T)
c.23838+11C>T (n.23838+11C>T)
c.23331+11C>T (n.23331+11C>T)
c.18798+11C>T (n.18798+11C>T)
c.2064+11C>T (n.2064+11C>T)
c.25536+11C>T (n.25536+11C>T)
c.25485+11C>T (n.25485+11C>T)
c.25338+11C>T (n.25338+11C>T)
 dbSNP gnomAD v4
6g.152139940G>ACA2680812933SYNE1c.1992+10C>T (n.1992+10C>T)
c.25458+10C>T (n.25458+10C>T)
c.25314+10C>T (n.25314+10C>T)
c.860+10C>T
c.1193+10C>T
c.1102+10C>T
c.1230+10C>T (n.1230+10C>T)
c.24243+10C>T (n.24243+10C>T)
n.2206+10C>T
c.4293+10C>T (n.4293+10C>T)
n.9150+10C>T
c.3396+10C>T (n.3396+10C>T)
n.9042+10C>T
n.2072+10C>T
n.4480+10C>T
n.2295+10C>T
c.1923+10C>T (n.1923+10C>T)
c.25563+10C>T (n.25563+10C>T)
c.25551+10C>T (n.25551+10C>T)
c.25542+10C>T (n.25542+10C>T)
c.25512+10C>T (n.25512+10C>T)
c.25548+10C>T (n.25548+10C>T)
c.25494+10C>T (n.25494+10C>T)
c.25491+10C>T (n.25491+10C>T)
c.25479+10C>T (n.25479+10C>T)
c.25422+10C>T (n.25422+10C>T)
c.25410+10C>T (n.25410+10C>T)
c.25407+10C>T (n.25407+10C>T)
c.25404+10C>T (n.25404+10C>T)
c.25560+10C>T (n.25560+10C>T)
c.25398+10C>T (n.25398+10C>T)
c.23838+10C>T (n.23838+10C>T)
c.23331+10C>T (n.23331+10C>T)
c.18798+10C>T (n.18798+10C>T)
c.2064+10C>T (n.2064+10C>T)
c.25536+10C>T (n.25536+10C>T)
c.25485+10C>T (n.25485+10C>T)
c.25338+10C>T (n.25338+10C>T)
 gnomAD v4
6g.152139943C>ACA2680812934SYNE1c.1992+7G>T (n.1992+7G>T)
c.25458+7G>T (n.25458+7G>T)
c.25314+7G>T (n.25314+7G>T)
c.860+7G>T
c.1193+7G>T
c.1102+7G>T
c.1230+7G>T (n.1230+7G>T)
c.24243+7G>T (n.24243+7G>T)
n.2206+7G>T
c.4293+7G>T (n.4293+7G>T)
n.9150+7G>T
c.3396+7G>T (n.3396+7G>T)
n.9042+7G>T
n.2072+7G>T
n.4480+7G>T
n.2295+7G>T
c.1923+7G>T (n.1923+7G>T)
c.25563+7G>T (n.25563+7G>T)
c.25551+7G>T (n.25551+7G>T)
c.25542+7G>T (n.25542+7G>T)
c.25512+7G>T (n.25512+7G>T)
c.25548+7G>T (n.25548+7G>T)
c.25494+7G>T (n.25494+7G>T)
c.25491+7G>T (n.25491+7G>T)
c.25479+7G>T (n.25479+7G>T)
c.25422+7G>T (n.25422+7G>T)
c.25410+7G>T (n.25410+7G>T)
c.25407+7G>T (n.25407+7G>T)
c.25404+7G>T (n.25404+7G>T)
c.25560+7G>T (n.25560+7G>T)
c.25398+7G>T (n.25398+7G>T)
c.23838+7G>T (n.23838+7G>T)
c.23331+7G>T (n.23331+7G>T)
c.18798+7G>T (n.18798+7G>T)
c.2064+7G>T (n.2064+7G>T)
c.25536+7G>T (n.25536+7G>T)
c.25485+7G>T (n.25485+7G>T)
c.25338+7G>T (n.25338+7G>T)
 gnomAD v4
6g.152139943C>TCA2680812935SYNE1c.1992+7G>A (n.1992+7G>A)
c.25458+7G>A (n.25458+7G>A)
c.25314+7G>A (n.25314+7G>A)
c.860+7G>A
c.1193+7G>A
c.1102+7G>A
c.1230+7G>A (n.1230+7G>A)
c.24243+7G>A (n.24243+7G>A)
n.2206+7G>A
c.4293+7G>A (n.4293+7G>A)
n.9150+7G>A
c.3396+7G>A (n.3396+7G>A)
n.9042+7G>A
n.2072+7G>A
n.4480+7G>A
n.2295+7G>A
c.1923+7G>A (n.1923+7G>A)
c.25563+7G>A (n.25563+7G>A)
c.25551+7G>A (n.25551+7G>A)
c.25542+7G>A (n.25542+7G>A)
c.25512+7G>A (n.25512+7G>A)
c.25548+7G>A (n.25548+7G>A)
c.25494+7G>A (n.25494+7G>A)
c.25491+7G>A (n.25491+7G>A)
c.25479+7G>A (n.25479+7G>A)
c.25422+7G>A (n.25422+7G>A)
c.25410+7G>A (n.25410+7G>A)
c.25407+7G>A (n.25407+7G>A)
c.25404+7G>A (n.25404+7G>A)
c.25560+7G>A (n.25560+7G>A)
c.25398+7G>A (n.25398+7G>A)
c.23838+7G>A (n.23838+7G>A)
c.23331+7G>A (n.23331+7G>A)
c.18798+7G>A (n.18798+7G>A)
c.2064+7G>A (n.2064+7G>A)
c.25536+7G>A (n.25536+7G>A)
c.25485+7G>A (n.25485+7G>A)
c.25338+7G>A (n.25338+7G>A)
 gnomAD v4
6g.152139945G>ACA2773583985SYNE1c.1992+5C>T (n.1992+5C>T)
c.25458+5C>T (n.25458+5C>T)
c.25314+5C>T (n.25314+5C>T)
c.860+5C>T
c.1193+5C>T
c.1102+5C>T
c.1230+5C>T (n.1230+5C>T)
c.24243+5C>T (n.24243+5C>T)
n.2206+5C>T
c.4293+5C>T (n.4293+5C>T)
n.9150+5C>T
c.3396+5C>T (n.3396+5C>T)
n.9042+5C>T
n.2072+5C>T
n.4480+5C>T
n.2295+5C>T
c.1923+5C>T (n.1923+5C>T)
c.25563+5C>T (n.25563+5C>T)
c.25551+5C>T (n.25551+5C>T)
c.25542+5C>T (n.25542+5C>T)
c.25512+5C>T (n.25512+5C>T)
c.25548+5C>T (n.25548+5C>T)
c.25494+5C>T (n.25494+5C>T)
c.25491+5C>T (n.25491+5C>T)
c.25479+5C>T (n.25479+5C>T)
c.25422+5C>T (n.25422+5C>T)
c.25410+5C>T (n.25410+5C>T)
c.25407+5C>T (n.25407+5C>T)
c.25404+5C>T (n.25404+5C>T)
c.25560+5C>T (n.25560+5C>T)
c.25398+5C>T (n.25398+5C>T)
c.23838+5C>T (n.23838+5C>T)
c.23331+5C>T (n.23331+5C>T)
c.18798+5C>T (n.18798+5C>T)
c.2064+5C>T (n.2064+5C>T)
c.25536+5C>T (n.25536+5C>T)
c.25485+5C>T (n.25485+5C>T)
c.25338+5C>T (n.25338+5C>T)
6g.152139945G>TCA645564556SYNE1c.1992+5C>A (n.1992+5C>A)
c.25458+5C>A (n.25458+5C>A)
c.25314+5C>A (n.25314+5C>A)
c.860+5C>A
c.1193+5C>A
c.1102+5C>A
c.1230+5C>A (n.1230+5C>A)
c.24243+5C>A (n.24243+5C>A)
n.2206+5C>A
c.4293+5C>A (n.4293+5C>A)
n.9150+5C>A
c.3396+5C>A (n.3396+5C>A)
n.9042+5C>A
n.2072+5C>A
n.4480+5C>A
n.2295+5C>A
c.1923+5C>A (n.1923+5C>A)
c.25563+5C>A (n.25563+5C>A)
c.25551+5C>A (n.25551+5C>A)
c.25542+5C>A (n.25542+5C>A)
c.25512+5C>A (n.25512+5C>A)
c.25548+5C>A (n.25548+5C>A)
c.25494+5C>A (n.25494+5C>A)
c.25491+5C>A (n.25491+5C>A)
c.25479+5C>A (n.25479+5C>A)
c.25422+5C>A (n.25422+5C>A)
c.25410+5C>A (n.25410+5C>A)
c.25407+5C>A (n.25407+5C>A)
c.25404+5C>A (n.25404+5C>A)
c.25560+5C>A (n.25560+5C>A)
c.25398+5C>A (n.25398+5C>A)
c.23838+5C>A (n.23838+5C>A)
c.23331+5C>A (n.23331+5C>A)
c.18798+5C>A (n.18798+5C>A)
c.2064+5C>A (n.2064+5C>A)
c.25536+5C>A (n.25536+5C>A)
c.25485+5C>A (n.25485+5C>A)
c.25338+5C>A (n.25338+5C>A)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139945_152139946delinsGCCA1673206096SYNE1c.1992+4_1992+5delinsGC (n.1992+4_1992+5delinsGC)
c.25458+4_25458+5delinsGC (n.25458+4_25458+5delinsGC)
c.25314+4_25314+5delinsGC (n.25314+4_25314+5delinsGC)
c.860+4_860+5delinsGC
c.1193+4_1193+5delinsGC
c.1102+4_1102+5delinsGC
c.1230+4_1230+5delinsGC (n.1230+4_1230+5delinsGC)
c.24243+4_24243+5delinsGC (n.24243+4_24243+5delinsGC)
n.2206+4_2206+5delinsGC
c.4293+4_4293+5delinsGC (n.4293+4_4293+5delinsGC)
n.9150+4_9150+5delinsGC
c.3396+4_3396+5delinsGC (n.3396+4_3396+5delinsGC)
n.9042+4_9042+5delinsGC
n.2072+4_2072+5delinsGC
n.4480+4_4480+5delinsGC
n.2295+4_2295+5delinsGC
c.1923+4_1923+5delinsGC (n.1923+4_1923+5delinsGC)
c.25563+4_25563+5delinsGC (n.25563+4_25563+5delinsGC)
c.25551+4_25551+5delinsGC (n.25551+4_25551+5delinsGC)
c.25542+4_25542+5delinsGC (n.25542+4_25542+5delinsGC)
c.25512+4_25512+5delinsGC (n.25512+4_25512+5delinsGC)
c.25548+4_25548+5delinsGC (n.25548+4_25548+5delinsGC)
c.25494+4_25494+5delinsGC (n.25494+4_25494+5delinsGC)
c.25491+4_25491+5delinsGC (n.25491+4_25491+5delinsGC)
c.25479+4_25479+5delinsGC (n.25479+4_25479+5delinsGC)
c.25422+4_25422+5delinsGC (n.25422+4_25422+5delinsGC)
c.25410+4_25410+5delinsGC (n.25410+4_25410+5delinsGC)
c.25407+4_25407+5delinsGC (n.25407+4_25407+5delinsGC)
c.25404+4_25404+5delinsGC (n.25404+4_25404+5delinsGC)
c.25560+4_25560+5delinsGC (n.25560+4_25560+5delinsGC)
c.25398+4_25398+5delinsGC (n.25398+4_25398+5delinsGC)
c.23838+4_23838+5delinsGC (n.23838+4_23838+5delinsGC)
c.23331+4_23331+5delinsGC (n.23331+4_23331+5delinsGC)
c.18798+4_18798+5delinsGC (n.18798+4_18798+5delinsGC)
c.2064+4_2064+5delinsGC (n.2064+4_2064+5delinsGC)
c.25536+4_25536+5delinsGC (n.25536+4_25536+5delinsGC)
c.25485+4_25485+5delinsGC (n.25485+4_25485+5delinsGC)
c.25338+4_25338+5delinsGC (n.25338+4_25338+5delinsGC)
6g.152139946delCA1673206098SYNE1c.1992+4del (n.1992+4del)
c.25458+4del (n.25458+4del)
c.25314+4del (n.25314+4del)
c.860+4del
c.1193+4del
c.1102+4del
c.1230+4del (n.1230+4del)
c.24243+4del (n.24243+4del)
n.2206+4del
c.4293+4del (n.4293+4del)
n.9150+4del
c.3396+4del (n.3396+4del)
n.9042+4del
n.2072+4del
n.4480+4del
n.2295+4del
c.1923+4del (n.1923+4del)
c.25563+4del (n.25563+4del)
c.25551+4del (n.25551+4del)
c.25542+4del (n.25542+4del)
c.25512+4del (n.25512+4del)
c.25548+4del (n.25548+4del)
c.25494+4del (n.25494+4del)
c.25491+4del (n.25491+4del)
c.25479+4del (n.25479+4del)
c.25422+4del (n.25422+4del)
c.25410+4del (n.25410+4del)
c.25407+4del (n.25407+4del)
c.25404+4del (n.25404+4del)
c.25560+4del (n.25560+4del)
c.25398+4del (n.25398+4del)
c.23838+4del (n.23838+4del)
c.23331+4del (n.23331+4del)
c.18798+4del (n.18798+4del)
c.2064+4del (n.2064+4del)
c.25536+4del (n.25536+4del)
c.25485+4del (n.25485+4del)
c.25338+4del (n.25338+4del)
 dbSNP
6g.152139946C>ACA2680812936SYNE1c.1992+4G>T (n.1992+4G>T)
c.25458+4G>T (n.25458+4G>T)
c.25314+4G>T (n.25314+4G>T)
c.860+4G>T
c.1193+4G>T
c.1102+4G>T
c.1230+4G>T (n.1230+4G>T)
c.24243+4G>T (n.24243+4G>T)
n.2206+4G>T
c.4293+4G>T (n.4293+4G>T)
n.9150+4G>T
c.3396+4G>T (n.3396+4G>T)
n.9042+4G>T
n.2072+4G>T
n.4480+4G>T
n.2295+4G>T
c.1923+4G>T (n.1923+4G>T)
c.25563+4G>T (n.25563+4G>T)
c.25551+4G>T (n.25551+4G>T)
c.25542+4G>T (n.25542+4G>T)
c.25512+4G>T (n.25512+4G>T)
c.25548+4G>T (n.25548+4G>T)
c.25494+4G>T (n.25494+4G>T)
c.25491+4G>T (n.25491+4G>T)
c.25479+4G>T (n.25479+4G>T)
c.25422+4G>T (n.25422+4G>T)
c.25410+4G>T (n.25410+4G>T)
c.25407+4G>T (n.25407+4G>T)
c.25404+4G>T (n.25404+4G>T)
c.25560+4G>T (n.25560+4G>T)
c.25398+4G>T (n.25398+4G>T)
c.23838+4G>T (n.23838+4G>T)
c.23331+4G>T (n.23331+4G>T)
c.18798+4G>T (n.18798+4G>T)
c.2064+4G>T (n.2064+4G>T)
c.25536+4G>T (n.25536+4G>T)
c.25485+4G>T (n.25485+4G>T)
c.25338+4G>T (n.25338+4G>T)
 gnomAD v4
6g.152139946C=CA1673206100SYNE1c.1992+4G= (n.1992+4G=)
c.25458+4G= (n.25458+4G=)
c.25314+4G= (n.25314+4G=)
c.860+4G=
c.1193+4G=
c.1102+4G=
c.1230+4G= (n.1230+4G=)
c.24243+4G= (n.24243+4G=)
n.2206+4G=
c.4293+4G= (n.4293+4G=)
n.9150+4G=
c.3396+4G= (n.3396+4G=)
n.9042+4G=
n.2072+4G=
n.4480+4G=
n.2295+4G=
c.1923+4G= (n.1923+4G=)
c.25563+4G= (n.25563+4G=)
c.25551+4G= (n.25551+4G=)
c.25542+4G= (n.25542+4G=)
c.25512+4G= (n.25512+4G=)
c.25548+4G= (n.25548+4G=)
c.25494+4G= (n.25494+4G=)
c.25491+4G= (n.25491+4G=)
c.25479+4G= (n.25479+4G=)
c.25422+4G= (n.25422+4G=)
c.25410+4G= (n.25410+4G=)
c.25407+4G= (n.25407+4G=)
c.25404+4G= (n.25404+4G=)
c.25560+4G= (n.25560+4G=)
c.25398+4G= (n.25398+4G=)
c.23838+4G= (n.23838+4G=)
c.23331+4G= (n.23331+4G=)
c.18798+4G= (n.18798+4G=)
c.2064+4G= (n.2064+4G=)
c.25536+4G= (n.25536+4G=)
c.25485+4G= (n.25485+4G=)
c.25338+4G= (n.25338+4G=)
6g.152139946C>TCA571437346SYNE1c.1992+4G>A (n.1992+4G>A)
c.25458+4G>A (n.25458+4G>A)
c.25314+4G>A (n.25314+4G>A)
c.860+4G>A
c.1193+4G>A
c.1102+4G>A
c.1230+4G>A (n.1230+4G>A)
c.24243+4G>A (n.24243+4G>A)
n.2206+4G>A
c.4293+4G>A (n.4293+4G>A)
n.9150+4G>A
c.3396+4G>A (n.3396+4G>A)
n.9042+4G>A
n.2072+4G>A
n.4480+4G>A
n.2295+4G>A
c.1923+4G>A (n.1923+4G>A)
c.25563+4G>A (n.25563+4G>A)
c.25551+4G>A (n.25551+4G>A)
c.25542+4G>A (n.25542+4G>A)
c.25512+4G>A (n.25512+4G>A)
c.25548+4G>A (n.25548+4G>A)
c.25494+4G>A (n.25494+4G>A)
c.25491+4G>A (n.25491+4G>A)
c.25479+4G>A (n.25479+4G>A)
c.25422+4G>A (n.25422+4G>A)
c.25410+4G>A (n.25410+4G>A)
c.25407+4G>A (n.25407+4G>A)
c.25404+4G>A (n.25404+4G>A)
c.25560+4G>A (n.25560+4G>A)
c.25398+4G>A (n.25398+4G>A)
c.23838+4G>A (n.23838+4G>A)
c.23331+4G>A (n.23331+4G>A)
c.18798+4G>A (n.18798+4G>A)
c.2064+4G>A (n.2064+4G>A)
c.25536+4G>A (n.25536+4G>A)
c.25485+4G>A (n.25485+4G>A)
c.25338+4G>A (n.25338+4G>A)
 dbSNP gnomAD v2
6g.152139947T>ACA645564557SYNE1c.1992+3A>T (n.1992+3A>T)
c.25458+3A>T (n.25458+3A>T)
c.25314+3A>T (n.25314+3A>T)
c.860+3A>T
c.1193+3A>T
c.1102+3A>T
c.1230+3A>T (n.1230+3A>T)
c.24243+3A>T (n.24243+3A>T)
n.2206+3A>T
c.4293+3A>T (n.4293+3A>T)
n.9150+3A>T
c.3396+3A>T (n.3396+3A>T)
n.9042+3A>T
n.2072+3A>T
n.4480+3A>T
n.2295+3A>T
c.1923+3A>T (n.1923+3A>T)
c.25563+3A>T (n.25563+3A>T)
c.25551+3A>T (n.25551+3A>T)
c.25542+3A>T (n.25542+3A>T)
c.25512+3A>T (n.25512+3A>T)
c.25548+3A>T (n.25548+3A>T)
c.25494+3A>T (n.25494+3A>T)
c.25491+3A>T (n.25491+3A>T)
c.25479+3A>T (n.25479+3A>T)
c.25422+3A>T (n.25422+3A>T)
c.25410+3A>T (n.25410+3A>T)
c.25407+3A>T (n.25407+3A>T)
c.25404+3A>T (n.25404+3A>T)
c.25560+3A>T (n.25560+3A>T)
c.25398+3A>T (n.25398+3A>T)
c.23838+3A>T (n.23838+3A>T)
c.23331+3A>T (n.23331+3A>T)
c.18798+3A>T (n.18798+3A>T)
c.2064+3A>T (n.2064+3A>T)
c.25536+3A>T (n.25536+3A>T)
c.25485+3A>T (n.25485+3A>T)
c.25338+3A>T (n.25338+3A>T)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139948A>CCA366079898SYNE1c.1992+2T>G (n.1992+2T>G)
c.25458+2T>G (n.25458+2T>G)
c.25314+2T>G (n.25314+2T>G)
c.860+2T>G
c.1193+2T>G
c.1102+2T>G
c.1230+2T>G (n.1230+2T>G)
c.24243+2T>G (n.24243+2T>G)
n.2206+2T>G
c.4293+2T>G (n.4293+2T>G)
n.9150+2T>G
c.3396+2T>G (n.3396+2T>G)
n.9042+2T>G
n.2072+2T>G
n.4480+2T>G
n.2295+2T>G
c.1923+2T>G (n.1923+2T>G)
c.25563+2T>G (n.25563+2T>G)
c.25551+2T>G (n.25551+2T>G)
c.25542+2T>G (n.25542+2T>G)
c.25512+2T>G (n.25512+2T>G)
c.25548+2T>G (n.25548+2T>G)
c.25494+2T>G (n.25494+2T>G)
c.25491+2T>G (n.25491+2T>G)
c.25479+2T>G (n.25479+2T>G)
c.25422+2T>G (n.25422+2T>G)
c.25410+2T>G (n.25410+2T>G)
c.25407+2T>G (n.25407+2T>G)
c.25404+2T>G (n.25404+2T>G)
c.25560+2T>G (n.25560+2T>G)
c.25398+2T>G (n.25398+2T>G)
c.23838+2T>G (n.23838+2T>G)
c.23331+2T>G (n.23331+2T>G)
c.18798+2T>G (n.18798+2T>G)
c.2064+2T>G (n.2064+2T>G)
c.25536+2T>G (n.25536+2T>G)
c.25485+2T>G (n.25485+2T>G)
c.25338+2T>G (n.25338+2T>G)
6g.152139948A>GCA366079899SYNE1c.1992+2T>C (n.1992+2T>C)
c.25458+2T>C (n.25458+2T>C)
c.25314+2T>C (n.25314+2T>C)
c.860+2T>C
c.1193+2T>C
c.1102+2T>C
c.1230+2T>C (n.1230+2T>C)
c.24243+2T>C (n.24243+2T>C)
n.2206+2T>C
c.4293+2T>C (n.4293+2T>C)
n.9150+2T>C
c.3396+2T>C (n.3396+2T>C)
n.9042+2T>C
n.2072+2T>C
n.4480+2T>C
n.2295+2T>C
c.1923+2T>C (n.1923+2T>C)
c.25563+2T>C (n.25563+2T>C)
c.25551+2T>C (n.25551+2T>C)
c.25542+2T>C (n.25542+2T>C)
c.25512+2T>C (n.25512+2T>C)
c.25548+2T>C (n.25548+2T>C)
c.25494+2T>C (n.25494+2T>C)
c.25491+2T>C (n.25491+2T>C)
c.25479+2T>C (n.25479+2T>C)
c.25422+2T>C (n.25422+2T>C)
c.25410+2T>C (n.25410+2T>C)
c.25407+2T>C (n.25407+2T>C)
c.25404+2T>C (n.25404+2T>C)
c.25560+2T>C (n.25560+2T>C)
c.25398+2T>C (n.25398+2T>C)
c.23838+2T>C (n.23838+2T>C)
c.23331+2T>C (n.23331+2T>C)
c.18798+2T>C (n.18798+2T>C)
c.2064+2T>C (n.2064+2T>C)
c.25536+2T>C (n.25536+2T>C)
c.25485+2T>C (n.25485+2T>C)
c.25338+2T>C (n.25338+2T>C)
6g.152139948A>TCA366079901SYNE1c.1992+2T>A (n.1992+2T>A)
c.25458+2T>A (n.25458+2T>A)
c.25314+2T>A (n.25314+2T>A)
c.860+2T>A
c.1193+2T>A
c.1102+2T>A
c.1230+2T>A (n.1230+2T>A)
c.24243+2T>A (n.24243+2T>A)
n.2206+2T>A
c.4293+2T>A (n.4293+2T>A)
n.9150+2T>A
c.3396+2T>A (n.3396+2T>A)
n.9042+2T>A
n.2072+2T>A
n.4480+2T>A
n.2295+2T>A
c.1923+2T>A (n.1923+2T>A)
c.25563+2T>A (n.25563+2T>A)
c.25551+2T>A (n.25551+2T>A)
c.25542+2T>A (n.25542+2T>A)
c.25512+2T>A (n.25512+2T>A)
c.25548+2T>A (n.25548+2T>A)
c.25494+2T>A (n.25494+2T>A)
c.25491+2T>A (n.25491+2T>A)
c.25479+2T>A (n.25479+2T>A)
c.25422+2T>A (n.25422+2T>A)
c.25410+2T>A (n.25410+2T>A)
c.25407+2T>A (n.25407+2T>A)
c.25404+2T>A (n.25404+2T>A)
c.25560+2T>A (n.25560+2T>A)
c.25398+2T>A (n.25398+2T>A)
c.23838+2T>A (n.23838+2T>A)
c.23331+2T>A (n.23331+2T>A)
c.18798+2T>A (n.18798+2T>A)
c.2064+2T>A (n.2064+2T>A)
c.25536+2T>A (n.25536+2T>A)
c.25485+2T>A (n.25485+2T>A)
c.25338+2T>A (n.25338+2T>A)
6g.152139949C>ACA366079903SYNE1c.1992+1G>T (n.1992+1G>T)
c.25458+1G>T (n.25458+1G>T)
c.25314+1G>T (n.25314+1G>T)
c.860+1G>T
c.1193+1G>T
c.1102+1G>T
c.1230+1G>T (n.1230+1G>T)
c.24243+1G>T (n.24243+1G>T)
n.2206+1G>T
c.4293+1G>T (n.4293+1G>T)
n.9150+1G>T
c.3396+1G>T (n.3396+1G>T)
n.9042+1G>T
n.2072+1G>T
n.4480+1G>T
n.2295+1G>T
c.1923+1G>T (n.1923+1G>T)
c.25563+1G>T (n.25563+1G>T)
c.25551+1G>T (n.25551+1G>T)
c.25542+1G>T (n.25542+1G>T)
c.25512+1G>T (n.25512+1G>T)
c.25548+1G>T (n.25548+1G>T)
c.25494+1G>T (n.25494+1G>T)
c.25491+1G>T (n.25491+1G>T)
c.25479+1G>T (n.25479+1G>T)
c.25422+1G>T (n.25422+1G>T)
c.25410+1G>T (n.25410+1G>T)
c.25407+1G>T (n.25407+1G>T)
c.25404+1G>T (n.25404+1G>T)
c.25560+1G>T (n.25560+1G>T)
c.25398+1G>T (n.25398+1G>T)
c.23838+1G>T (n.23838+1G>T)
c.23331+1G>T (n.23331+1G>T)
c.18798+1G>T (n.18798+1G>T)
c.2064+1G>T (n.2064+1G>T)
c.25536+1G>T (n.25536+1G>T)
c.25485+1G>T (n.25485+1G>T)
c.25338+1G>T (n.25338+1G>T)
6g.152139949C>GCA366079905SYNE1c.1992+1G>C (n.1992+1G>C)
c.25458+1G>C (n.25458+1G>C)
c.25314+1G>C (n.25314+1G>C)
c.860+1G>C
c.1193+1G>C
c.1102+1G>C
c.1230+1G>C (n.1230+1G>C)
c.24243+1G>C (n.24243+1G>C)
n.2206+1G>C
c.4293+1G>C (n.4293+1G>C)
n.9150+1G>C
c.3396+1G>C (n.3396+1G>C)
n.9042+1G>C
n.2072+1G>C
n.4480+1G>C
n.2295+1G>C
c.1923+1G>C (n.1923+1G>C)
c.25563+1G>C (n.25563+1G>C)
c.25551+1G>C (n.25551+1G>C)
c.25542+1G>C (n.25542+1G>C)
c.25512+1G>C (n.25512+1G>C)
c.25548+1G>C (n.25548+1G>C)
c.25494+1G>C (n.25494+1G>C)
c.25491+1G>C (n.25491+1G>C)
c.25479+1G>C (n.25479+1G>C)
c.25422+1G>C (n.25422+1G>C)
c.25410+1G>C (n.25410+1G>C)
c.25407+1G>C (n.25407+1G>C)
c.25404+1G>C (n.25404+1G>C)
c.25560+1G>C (n.25560+1G>C)
c.25398+1G>C (n.25398+1G>C)
c.23838+1G>C (n.23838+1G>C)
c.23331+1G>C (n.23331+1G>C)
c.18798+1G>C (n.18798+1G>C)
c.2064+1G>C (n.2064+1G>C)
c.25536+1G>C (n.25536+1G>C)
c.25485+1G>C (n.25485+1G>C)
c.25338+1G>C (n.25338+1G>C)
6g.152139949C>TCA366079907SYNE1c.1992+1G>A (n.1992+1G>A)
c.25458+1G>A (n.25458+1G>A)
c.25314+1G>A (n.25314+1G>A)
c.860+1G>A
c.1193+1G>A
c.1102+1G>A
c.1230+1G>A (n.1230+1G>A)
c.24243+1G>A (n.24243+1G>A)
n.2206+1G>A
c.4293+1G>A (n.4293+1G>A)
n.9150+1G>A
c.3396+1G>A (n.3396+1G>A)
n.9042+1G>A
n.2072+1G>A
n.4480+1G>A
n.2295+1G>A
c.1923+1G>A (n.1923+1G>A)
c.25563+1G>A (n.25563+1G>A)
c.25551+1G>A (n.25551+1G>A)
c.25542+1G>A (n.25542+1G>A)
c.25512+1G>A (n.25512+1G>A)
c.25548+1G>A (n.25548+1G>A)
c.25494+1G>A (n.25494+1G>A)
c.25491+1G>A (n.25491+1G>A)
c.25479+1G>A (n.25479+1G>A)
c.25422+1G>A (n.25422+1G>A)
c.25410+1G>A (n.25410+1G>A)
c.25407+1G>A (n.25407+1G>A)
c.25404+1G>A (n.25404+1G>A)
c.25560+1G>A (n.25560+1G>A)
c.25398+1G>A (n.25398+1G>A)
c.23838+1G>A (n.23838+1G>A)
c.23331+1G>A (n.23331+1G>A)
c.18798+1G>A (n.18798+1G>A)
c.2064+1G>A (n.2064+1G>A)
c.25536+1G>A (n.25536+1G>A)
c.25485+1G>A (n.25485+1G>A)
c.25338+1G>A (n.25338+1G>A)
6g.152139950C>ACA366079909SYNE1c.1992G>T (p.Lys664Asn)
c.25458G>T (p.Lys8486Asn)
c.25314G>T (p.Lys8438Asn)
c.860G>T
c.1193G>T
c.1102G>T
c.1230G>T (p.Lys410Asn)
c.24243G>T (p.Lys8081Asn)
n.2206G>T
c.4293G>T (p.Lys1431Asn)
n.9150G>T
c.3396G>T (p.Lys1132Asn)
n.9042G>T
n.2072G>T
n.4480G>T
n.2295G>T
c.1923G>T (p.Lys641Asn)
c.25563G>T (p.Lys8521Asn)
c.25551G>T (p.Lys8517Asn)
c.25542G>T (p.Lys8514Asn)
c.25512G>T (p.Lys8504Asn)
c.25548G>T (p.Lys8516Asn)
c.25494G>T (p.Lys8498Asn)
c.25491G>T (p.Lys8497Asn)
c.25479G>T (p.Lys8493Asn)
c.25422G>T (p.Lys8474Asn)
c.25410G>T (p.Lys8470Asn)
c.25407G>T (p.Lys8469Asn)
c.25404G>T (p.Lys8468Asn)
c.25560G>T (p.Lys8520Asn)
c.25398G>T (p.Lys8466Asn)
c.23838G>T (p.Lys7946Asn)
c.23331G>T (p.Lys7777Asn)
c.18798G>T (p.Lys6266Asn)
c.2064G>T (p.Lys688Asn)
c.25536G>T (p.Lys8512Asn)
c.25485G>T (p.Lys8495Asn)
c.25338G>T (p.Lys8446Asn)
 gnomAD v4
6g.152139950C>GCA366079910SYNE1c.1992G>C (p.Lys664Asn)
c.25458G>C (p.Lys8486Asn)
c.25314G>C (p.Lys8438Asn)
c.860G>C
c.1193G>C
c.1102G>C
c.1230G>C (p.Lys410Asn)
c.24243G>C (p.Lys8081Asn)
n.2206G>C
c.4293G>C (p.Lys1431Asn)
n.9150G>C
c.3396G>C (p.Lys1132Asn)
n.9042G>C
n.2072G>C
n.4480G>C
n.2295G>C
c.1923G>C (p.Lys641Asn)
c.25563G>C (p.Lys8521Asn)
c.25551G>C (p.Lys8517Asn)
c.25542G>C (p.Lys8514Asn)
c.25512G>C (p.Lys8504Asn)
c.25548G>C (p.Lys8516Asn)
c.25494G>C (p.Lys8498Asn)
c.25491G>C (p.Lys8497Asn)
c.25479G>C (p.Lys8493Asn)
c.25422G>C (p.Lys8474Asn)
c.25410G>C (p.Lys8470Asn)
c.25407G>C (p.Lys8469Asn)
c.25404G>C (p.Lys8468Asn)
c.25560G>C (p.Lys8520Asn)
c.25398G>C (p.Lys8466Asn)
c.23838G>C (p.Lys7946Asn)
c.23331G>C (p.Lys7777Asn)
c.18798G>C (p.Lys6266Asn)
c.2064G>C (p.Lys688Asn)
c.25536G>C (p.Lys8512Asn)
c.25485G>C (p.Lys8495Asn)
c.25338G>C (p.Lys8446Asn)
6g.152139950C>TCA452969794SYNE1c.1992G>A (p.Lys664=)
c.25458G>A (p.Lys8486=)
c.25314G>A (p.Lys8438=)
c.860G>A
c.1193G>A
c.1102G>A
c.1230G>A (p.Lys410=)
c.24243G>A (p.Lys8081=)
n.2206G>A
c.4293G>A (p.Lys1431=)
n.9150G>A
c.3396G>A (p.Lys1132=)
n.9042G>A
n.2072G>A
n.4480G>A
n.2295G>A
c.1923G>A (p.Lys641=)
c.25563G>A (p.Lys8521=)
c.25551G>A (p.Lys8517=)
c.25542G>A (p.Lys8514=)
c.25512G>A (p.Lys8504=)
c.25548G>A (p.Lys8516=)
c.25494G>A (p.Lys8498=)
c.25491G>A (p.Lys8497=)
c.25479G>A (p.Lys8493=)
c.25422G>A (p.Lys8474=)
c.25410G>A (p.Lys8470=)
c.25407G>A (p.Lys8469=)
c.25404G>A (p.Lys8468=)
c.25560G>A (p.Lys8520=)
c.25398G>A (p.Lys8466=)
c.23838G>A (p.Lys7946=)
c.23331G>A (p.Lys7777=)
c.18798G>A (p.Lys6266=)
c.2064G>A (p.Lys688=)
c.25536G>A (p.Lys8512=)
c.25485G>A (p.Lys8495=)
c.25338G>A (p.Lys8446=)
 dbSNP
6g.152139951T>ACA366079913SYNE1c.1991A>T (p.Lys664Met)
c.25457A>T (p.Lys8486Met)
c.25313A>T (p.Lys8438Met)
c.859A>T
c.1192A>T
c.1101A>T
c.1229A>T (p.Lys410Met)
c.24242A>T (p.Lys8081Met)
n.2205A>T
c.4292A>T (p.Lys1431Met)
n.9149A>T
c.3395A>T (p.Lys1132Met)
n.9041A>T
n.2071A>T
n.4479A>T
n.2294A>T
c.1922A>T (p.Lys641Met)
c.25562A>T (p.Lys8521Met)
c.25550A>T (p.Lys8517Met)
c.25541A>T (p.Lys8514Met)
c.25511A>T (p.Lys8504Met)
c.25547A>T (p.Lys8516Met)
c.25493A>T (p.Lys8498Met)
c.25490A>T (p.Lys8497Met)
c.25478A>T (p.Lys8493Met)
c.25421A>T (p.Lys8474Met)
c.25409A>T (p.Lys8470Met)
c.25406A>T (p.Lys8469Met)
c.25403A>T (p.Lys8468Met)
c.25559A>T (p.Lys8520Met)
c.25397A>T (p.Lys8466Met)
c.23837A>T (p.Lys7946Met)
c.23330A>T (p.Lys7777Met)
c.18797A>T (p.Lys6266Met)
c.2063A>T (p.Lys688Met)
c.25535A>T (p.Lys8512Met)
c.25484A>T (p.Lys8495Met)
c.25337A>T (p.Lys8446Met)
6g.152139951T>CCA366079916SYNE1c.1991A>G (p.Lys664Arg)
c.25457A>G (p.Lys8486Arg)
c.25313A>G (p.Lys8438Arg)
c.859A>G
c.1192A>G
c.1101A>G
c.1229A>G (p.Lys410Arg)
c.24242A>G (p.Lys8081Arg)
n.2205A>G
c.4292A>G (p.Lys1431Arg)
n.9149A>G
c.3395A>G (p.Lys1132Arg)
n.9041A>G
n.2071A>G
n.4479A>G
n.2294A>G
c.1922A>G (p.Lys641Arg)
c.25562A>G (p.Lys8521Arg)
c.25550A>G (p.Lys8517Arg)
c.25541A>G (p.Lys8514Arg)
c.25511A>G (p.Lys8504Arg)
c.25547A>G (p.Lys8516Arg)
c.25493A>G (p.Lys8498Arg)
c.25490A>G (p.Lys8497Arg)
c.25478A>G (p.Lys8493Arg)
c.25421A>G (p.Lys8474Arg)
c.25409A>G (p.Lys8470Arg)
c.25406A>G (p.Lys8469Arg)
c.25403A>G (p.Lys8468Arg)
c.25559A>G (p.Lys8520Arg)
c.25397A>G (p.Lys8466Arg)
c.23837A>G (p.Lys7946Arg)
c.23330A>G (p.Lys7777Arg)
c.18797A>G (p.Lys6266Arg)
c.2063A>G (p.Lys688Arg)
c.25535A>G (p.Lys8512Arg)
c.25484A>G (p.Lys8495Arg)
c.25337A>G (p.Lys8446Arg)
 gnomAD v4
6g.152139951T>GCA366079915SYNE1c.1991A>C (p.Lys664Thr)
c.25457A>C (p.Lys8486Thr)
c.25313A>C (p.Lys8438Thr)
c.859A>C
c.1192A>C
c.1101A>C
c.1229A>C (p.Lys410Thr)
c.24242A>C (p.Lys8081Thr)
n.2205A>C
c.4292A>C (p.Lys1431Thr)
n.9149A>C
c.3395A>C (p.Lys1132Thr)
n.9041A>C
n.2071A>C
n.4479A>C
n.2294A>C
c.1922A>C (p.Lys641Thr)
c.25562A>C (p.Lys8521Thr)
c.25550A>C (p.Lys8517Thr)
c.25541A>C (p.Lys8514Thr)
c.25511A>C (p.Lys8504Thr)
c.25547A>C (p.Lys8516Thr)
c.25493A>C (p.Lys8498Thr)
c.25490A>C (p.Lys8497Thr)
c.25478A>C (p.Lys8493Thr)
c.25421A>C (p.Lys8474Thr)
c.25409A>C (p.Lys8470Thr)
c.25406A>C (p.Lys8469Thr)
c.25403A>C (p.Lys8468Thr)
c.25559A>C (p.Lys8520Thr)
c.25397A>C (p.Lys8466Thr)
c.23837A>C (p.Lys7946Thr)
c.23330A>C (p.Lys7777Thr)
c.18797A>C (p.Lys6266Thr)
c.2063A>C (p.Lys688Thr)
c.25535A>C (p.Lys8512Thr)
c.25484A>C (p.Lys8495Thr)
c.25337A>C (p.Lys8446Thr)
6g.152139952T>ACA366079917SYNE1c.1990A>T (p.Lys664Ter)
c.25456A>T (p.Lys8486Ter)
c.25312A>T (p.Lys8438Ter)
c.858A>T
c.1191A>T
c.1100A>T
c.1228A>T (p.Lys410Ter)
c.24241A>T (p.Lys8081Ter)
n.2204A>T
c.4291A>T (p.Lys1431Ter)
n.9148A>T
c.3394A>T (p.Lys1132Ter)
n.9040A>T
n.2070A>T
n.4478A>T
n.2293A>T
c.1921A>T (p.Lys641Ter)
c.25561A>T (p.Lys8521Ter)
c.25549A>T (p.Lys8517Ter)
c.25540A>T (p.Lys8514Ter)
c.25510A>T (p.Lys8504Ter)
c.25546A>T (p.Lys8516Ter)
c.25492A>T (p.Lys8498Ter)
c.25489A>T (p.Lys8497Ter)
c.25477A>T (p.Lys8493Ter)
c.25420A>T (p.Lys8474Ter)
c.25408A>T (p.Lys8470Ter)
c.25405A>T (p.Lys8469Ter)
c.25402A>T (p.Lys8468Ter)
c.25558A>T (p.Lys8520Ter)
c.25396A>T (p.Lys8466Ter)
c.23836A>T (p.Lys7946Ter)
c.23329A>T (p.Lys7777Ter)
c.18796A>T (p.Lys6266Ter)
c.2062A>T (p.Lys688Ter)
c.25534A>T (p.Lys8512Ter)
c.25483A>T (p.Lys8495Ter)
c.25336A>T (p.Lys8446Ter)
6g.152139952T>CCA366079918SYNE1c.1990A>G (p.Lys664Glu)
c.25456A>G (p.Lys8486Glu)
c.25312A>G (p.Lys8438Glu)
c.858A>G
c.1191A>G
c.1100A>G
c.1228A>G (p.Lys410Glu)
c.24241A>G (p.Lys8081Glu)
n.2204A>G
c.4291A>G (p.Lys1431Glu)
n.9148A>G
c.3394A>G (p.Lys1132Glu)
n.9040A>G
n.2070A>G
n.4478A>G
n.2293A>G
c.1921A>G (p.Lys641Glu)
c.25561A>G (p.Lys8521Glu)
c.25549A>G (p.Lys8517Glu)
c.25540A>G (p.Lys8514Glu)
c.25510A>G (p.Lys8504Glu)
c.25546A>G (p.Lys8516Glu)
c.25492A>G (p.Lys8498Glu)
c.25489A>G (p.Lys8497Glu)
c.25477A>G (p.Lys8493Glu)
c.25420A>G (p.Lys8474Glu)
c.25408A>G (p.Lys8470Glu)
c.25405A>G (p.Lys8469Glu)
c.25402A>G (p.Lys8468Glu)
c.25558A>G (p.Lys8520Glu)
c.25396A>G (p.Lys8466Glu)
c.23836A>G (p.Lys7946Glu)
c.23329A>G (p.Lys7777Glu)
c.18796A>G (p.Lys6266Glu)
c.2062A>G (p.Lys688Glu)
c.25534A>G (p.Lys8512Glu)
c.25483A>G (p.Lys8495Glu)
c.25336A>G (p.Lys8446Glu)
6g.152139952T>GCA366079920SYNE1c.1990A>C (p.Lys664Gln)
c.25456A>C (p.Lys8486Gln)
c.25312A>C (p.Lys8438Gln)
c.858A>C
c.1191A>C
c.1100A>C
c.1228A>C (p.Lys410Gln)
c.24241A>C (p.Lys8081Gln)
n.2204A>C
c.4291A>C (p.Lys1431Gln)
n.9148A>C
c.3394A>C (p.Lys1132Gln)
n.9040A>C
n.2070A>C
n.4478A>C
n.2293A>C
c.1921A>C (p.Lys641Gln)
c.25561A>C (p.Lys8521Gln)
c.25549A>C (p.Lys8517Gln)
c.25540A>C (p.Lys8514Gln)
c.25510A>C (p.Lys8504Gln)
c.25546A>C (p.Lys8516Gln)
c.25492A>C (p.Lys8498Gln)
c.25489A>C (p.Lys8497Gln)
c.25477A>C (p.Lys8493Gln)
c.25420A>C (p.Lys8474Gln)
c.25408A>C (p.Lys8470Gln)
c.25405A>C (p.Lys8469Gln)
c.25402A>C (p.Lys8468Gln)
c.25558A>C (p.Lys8520Gln)
c.25396A>C (p.Lys8466Gln)
c.23836A>C (p.Lys7946Gln)
c.23329A>C (p.Lys7777Gln)
c.18796A>C (p.Lys6266Gln)
c.2062A>C (p.Lys688Gln)
c.25534A>C (p.Lys8512Gln)
c.25483A>C (p.Lys8495Gln)
c.25336A>C (p.Lys8446Gln)
 gnomAD v4
6g.152139953G>ACA452969797SYNE1c.1989C>T (p.Leu663=)
c.25455C>T (p.Leu8485=)
c.25311C>T (p.Leu8437=)
c.857C>T
c.1190C>T
c.1099C>T
c.1227C>T (p.Leu409=)
c.24240C>T (p.Leu8080=)
n.2203C>T
c.4290C>T (p.Leu1430=)
n.9147C>T
c.3393C>T (p.Leu1131=)
n.9039C>T
n.2069C>T
n.4477C>T
n.2292C>T
c.1920C>T (p.Leu640=)
c.25560C>T (p.Leu8520=)
c.25548C>T (p.Leu8516=)
c.25539C>T (p.Leu8513=)
c.25509C>T (p.Leu8503=)
c.25545C>T (p.Leu8515=)
c.25491C>T (p.Leu8497=)
c.25488C>T (p.Leu8496=)
c.25476C>T (p.Leu8492=)
c.25419C>T (p.Leu8473=)
c.25407C>T (p.Leu8469=)
c.25404C>T (p.Leu8468=)
c.25401C>T (p.Leu8467=)
c.25557C>T (p.Leu8519=)
c.25395C>T (p.Leu8465=)
c.23835C>T (p.Leu7945=)
c.23328C>T (p.Leu7776=)
c.18795C>T (p.Leu6265=)
c.2061C>T (p.Leu687=)
c.25533C>T (p.Leu8511=)
c.25482C>T (p.Leu8494=)
c.25335C>T (p.Leu8445=)
 gnomAD v4
6g.152139953G>CCA452969796SYNE1c.1989C>G (p.Leu663=)
c.25455C>G (p.Leu8485=)
c.25311C>G (p.Leu8437=)
c.857C>G
c.1190C>G
c.1099C>G
c.1227C>G (p.Leu409=)
c.24240C>G (p.Leu8080=)
n.2203C>G
c.4290C>G (p.Leu1430=)
n.9147C>G
c.3393C>G (p.Leu1131=)
n.9039C>G
n.2069C>G
n.4477C>G
n.2292C>G
c.1920C>G (p.Leu640=)
c.25560C>G (p.Leu8520=)
c.25548C>G (p.Leu8516=)
c.25539C>G (p.Leu8513=)
c.25509C>G (p.Leu8503=)
c.25545C>G (p.Leu8515=)
c.25491C>G (p.Leu8497=)
c.25488C>G (p.Leu8496=)
c.25476C>G (p.Leu8492=)
c.25419C>G (p.Leu8473=)
c.25407C>G (p.Leu8469=)
c.25404C>G (p.Leu8468=)
c.25401C>G (p.Leu8467=)
c.25557C>G (p.Leu8519=)
c.25395C>G (p.Leu8465=)
c.23835C>G (p.Leu7945=)
c.23328C>G (p.Leu7776=)
c.18795C>G (p.Leu6265=)
c.2061C>G (p.Leu687=)
c.25533C>G (p.Leu8511=)
c.25482C>G (p.Leu8494=)
c.25335C>G (p.Leu8445=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139953G>TCA452969795SYNE1c.1989C>A (p.Leu663=)
c.25455C>A (p.Leu8485=)
c.25311C>A (p.Leu8437=)
c.857C>A
c.1190C>A
c.1099C>A
c.1227C>A (p.Leu409=)
c.24240C>A (p.Leu8080=)
n.2203C>A
c.4290C>A (p.Leu1430=)
n.9147C>A
c.3393C>A (p.Leu1131=)
n.9039C>A
n.2069C>A
n.4477C>A
n.2292C>A
c.1920C>A (p.Leu640=)
c.25560C>A (p.Leu8520=)
c.25548C>A (p.Leu8516=)
c.25539C>A (p.Leu8513=)
c.25509C>A (p.Leu8503=)
c.25545C>A (p.Leu8515=)
c.25491C>A (p.Leu8497=)
c.25488C>A (p.Leu8496=)
c.25476C>A (p.Leu8492=)
c.25419C>A (p.Leu8473=)
c.25407C>A (p.Leu8469=)
c.25404C>A (p.Leu8468=)
c.25401C>A (p.Leu8467=)
c.25557C>A (p.Leu8519=)
c.25395C>A (p.Leu8465=)
c.23835C>A (p.Leu7945=)
c.23328C>A (p.Leu7776=)
c.18795C>A (p.Leu6265=)
c.2061C>A (p.Leu687=)
c.25533C>A (p.Leu8511=)
c.25482C>A (p.Leu8494=)
c.25335C>A (p.Leu8445=)
 gnomAD v4
6g.152139954A>CCA366079922SYNE1c.1988T>G (p.Leu663Arg)
c.25454T>G (p.Leu8485Arg)
c.25310T>G (p.Leu8437Arg)
c.856T>G
c.1189T>G
c.1098T>G
c.1226T>G (p.Leu409Arg)
c.24239T>G (p.Leu8080Arg)
n.2202T>G
c.4289T>G (p.Leu1430Arg)
n.9146T>G
c.3392T>G (p.Leu1131Arg)
n.9038T>G
n.2068T>G
n.4476T>G
n.2291T>G
c.1919T>G (p.Leu640Arg)
c.25559T>G (p.Leu8520Arg)
c.25547T>G (p.Leu8516Arg)
c.25538T>G (p.Leu8513Arg)
c.25508T>G (p.Leu8503Arg)
c.25544T>G (p.Leu8515Arg)
c.25490T>G (p.Leu8497Arg)
c.25487T>G (p.Leu8496Arg)
c.25475T>G (p.Leu8492Arg)
c.25418T>G (p.Leu8473Arg)
c.25406T>G (p.Leu8469Arg)
c.25403T>G (p.Leu8468Arg)
c.25400T>G (p.Leu8467Arg)
c.25556T>G (p.Leu8519Arg)
c.25394T>G (p.Leu8465Arg)
c.23834T>G (p.Leu7945Arg)
c.23327T>G (p.Leu7776Arg)
c.18794T>G (p.Leu6265Arg)
c.2060T>G (p.Leu687Arg)
c.25532T>G (p.Leu8511Arg)
c.25481T>G (p.Leu8494Arg)
c.25334T>G (p.Leu8445Arg)
6g.152139954A>GCA366079924SYNE1c.1988T>C (p.Leu663Pro)
c.25454T>C (p.Leu8485Pro)
c.25310T>C (p.Leu8437Pro)
c.856T>C
c.1189T>C
c.1098T>C
c.1226T>C (p.Leu409Pro)
c.24239T>C (p.Leu8080Pro)
n.2202T>C
c.4289T>C (p.Leu1430Pro)
n.9146T>C
c.3392T>C (p.Leu1131Pro)
n.9038T>C
n.2068T>C
n.4476T>C
n.2291T>C
c.1919T>C (p.Leu640Pro)
c.25559T>C (p.Leu8520Pro)
c.25547T>C (p.Leu8516Pro)
c.25538T>C (p.Leu8513Pro)
c.25508T>C (p.Leu8503Pro)
c.25544T>C (p.Leu8515Pro)
c.25490T>C (p.Leu8497Pro)
c.25487T>C (p.Leu8496Pro)
c.25475T>C (p.Leu8492Pro)
c.25418T>C (p.Leu8473Pro)
c.25406T>C (p.Leu8469Pro)
c.25403T>C (p.Leu8468Pro)
c.25400T>C (p.Leu8467Pro)
c.25556T>C (p.Leu8519Pro)
c.25394T>C (p.Leu8465Pro)
c.23834T>C (p.Leu7945Pro)
c.23327T>C (p.Leu7776Pro)
c.18794T>C (p.Leu6265Pro)
c.2060T>C (p.Leu687Pro)
c.25532T>C (p.Leu8511Pro)
c.25481T>C (p.Leu8494Pro)
c.25334T>C (p.Leu8445Pro)
6g.152139954A>TCA366079925SYNE1c.1988T>A (p.Leu663His)
c.25454T>A (p.Leu8485His)
c.25310T>A (p.Leu8437His)
c.856T>A
c.1189T>A
c.1098T>A
c.1226T>A (p.Leu409His)
c.24239T>A (p.Leu8080His)
n.2202T>A
c.4289T>A (p.Leu1430His)
n.9146T>A
c.3392T>A (p.Leu1131His)
n.9038T>A
n.2068T>A
n.4476T>A
n.2291T>A
c.1919T>A (p.Leu640His)
c.25559T>A (p.Leu8520His)
c.25547T>A (p.Leu8516His)
c.25538T>A (p.Leu8513His)
c.25508T>A (p.Leu8503His)
c.25544T>A (p.Leu8515His)
c.25490T>A (p.Leu8497His)
c.25487T>A (p.Leu8496His)
c.25475T>A (p.Leu8492His)
c.25418T>A (p.Leu8473His)
c.25406T>A (p.Leu8469His)
c.25403T>A (p.Leu8468His)
c.25400T>A (p.Leu8467His)
c.25556T>A (p.Leu8519His)
c.25394T>A (p.Leu8465His)
c.23834T>A (p.Leu7945His)
c.23327T>A (p.Leu7776His)
c.18794T>A (p.Leu6265His)
c.2060T>A (p.Leu687His)
c.25532T>A (p.Leu8511His)
c.25481T>A (p.Leu8494His)
c.25334T>A (p.Leu8445His)
6g.152139955G>ACA366079928SYNE1c.1987C>T (p.Leu663Phe)
c.25453C>T (p.Leu8485Phe)
c.25309C>T (p.Leu8437Phe)
c.855C>T
c.1188C>T
c.1097C>T
c.1225C>T (p.Leu409Phe)
c.24238C>T (p.Leu8080Phe)
n.2201C>T
c.4288C>T (p.Leu1430Phe)
n.9145C>T
c.3391C>T (p.Leu1131Phe)
n.9037C>T
n.2067C>T
n.4475C>T
n.2290C>T
c.1918C>T (p.Leu640Phe)
c.25558C>T (p.Leu8520Phe)
c.25546C>T (p.Leu8516Phe)
c.25537C>T (p.Leu8513Phe)
c.25507C>T (p.Leu8503Phe)
c.25543C>T (p.Leu8515Phe)
c.25489C>T (p.Leu8497Phe)
c.25486C>T (p.Leu8496Phe)
c.25474C>T (p.Leu8492Phe)
c.25417C>T (p.Leu8473Phe)
c.25405C>T (p.Leu8469Phe)
c.25402C>T (p.Leu8468Phe)
c.25399C>T (p.Leu8467Phe)
c.25555C>T (p.Leu8519Phe)
c.25393C>T (p.Leu8465Phe)
c.23833C>T (p.Leu7945Phe)
c.23326C>T (p.Leu7776Phe)
c.18793C>T (p.Leu6265Phe)
c.2059C>T (p.Leu687Phe)
c.25531C>T (p.Leu8511Phe)
c.25480C>T (p.Leu8494Phe)
c.25333C>T (p.Leu8445Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139955G>CCA366079930SYNE1c.1987C>G (p.Leu663Val)
c.25453C>G (p.Leu8485Val)
c.25309C>G (p.Leu8437Val)
c.855C>G
c.1188C>G
c.1097C>G
c.1225C>G (p.Leu409Val)
c.24238C>G (p.Leu8080Val)
n.2201C>G
c.4288C>G (p.Leu1430Val)
n.9145C>G
c.3391C>G (p.Leu1131Val)
n.9037C>G
n.2067C>G
n.4475C>G
n.2290C>G
c.1918C>G (p.Leu640Val)
c.25558C>G (p.Leu8520Val)
c.25546C>G (p.Leu8516Val)
c.25537C>G (p.Leu8513Val)
c.25507C>G (p.Leu8503Val)
c.25543C>G (p.Leu8515Val)
c.25489C>G (p.Leu8497Val)
c.25486C>G (p.Leu8496Val)
c.25474C>G (p.Leu8492Val)
c.25417C>G (p.Leu8473Val)
c.25405C>G (p.Leu8469Val)
c.25402C>G (p.Leu8468Val)
c.25399C>G (p.Leu8467Val)
c.25555C>G (p.Leu8519Val)
c.25393C>G (p.Leu8465Val)
c.23833C>G (p.Leu7945Val)
c.23326C>G (p.Leu7776Val)
c.18793C>G (p.Leu6265Val)
c.2059C>G (p.Leu687Val)
c.25531C>G (p.Leu8511Val)
c.25480C>G (p.Leu8494Val)
c.25333C>G (p.Leu8445Val)
6g.152139955G>TCA366079931SYNE1c.1987C>A (p.Leu663Ile)
c.25453C>A (p.Leu8485Ile)
c.25309C>A (p.Leu8437Ile)
c.855C>A
c.1188C>A
c.1097C>A
c.1225C>A (p.Leu409Ile)
c.24238C>A (p.Leu8080Ile)
n.2201C>A
c.4288C>A (p.Leu1430Ile)
n.9145C>A
c.3391C>A (p.Leu1131Ile)
n.9037C>A
n.2067C>A
n.4475C>A
n.2290C>A
c.1918C>A (p.Leu640Ile)
c.25558C>A (p.Leu8520Ile)
c.25546C>A (p.Leu8516Ile)
c.25537C>A (p.Leu8513Ile)
c.25507C>A (p.Leu8503Ile)
c.25543C>A (p.Leu8515Ile)
c.25489C>A (p.Leu8497Ile)
c.25486C>A (p.Leu8496Ile)
c.25474C>A (p.Leu8492Ile)
c.25417C>A (p.Leu8473Ile)
c.25405C>A (p.Leu8469Ile)
c.25402C>A (p.Leu8468Ile)
c.25399C>A (p.Leu8467Ile)
c.25555C>A (p.Leu8519Ile)
c.25393C>A (p.Leu8465Ile)
c.23833C>A (p.Leu7945Ile)
c.23326C>A (p.Leu7776Ile)
c.18793C>A (p.Leu6265Ile)
c.2059C>A (p.Leu687Ile)
c.25531C>A (p.Leu8511Ile)
c.25480C>A (p.Leu8494Ile)
c.25333C>A (p.Leu8445Ile)
6g.152139956C>ACA366079934SYNE1c.1986G>T (p.Lys662Asn)
c.25452G>T (p.Lys8484Asn)
c.25308G>T (p.Lys8436Asn)
c.854G>T
c.1187G>T
c.1096G>T
c.1224G>T (p.Lys408Asn)
c.24237G>T (p.Lys8079Asn)
n.2200G>T
c.4287G>T (p.Lys1429Asn)
n.9144G>T
c.3390G>T (p.Lys1130Asn)
n.9036G>T
n.2066G>T
n.4474G>T
n.2289G>T
c.1917G>T (p.Lys639Asn)
c.25557G>T (p.Lys8519Asn)
c.25545G>T (p.Lys8515Asn)
c.25536G>T (p.Lys8512Asn)
c.25506G>T (p.Lys8502Asn)
c.25542G>T (p.Lys8514Asn)
c.25488G>T (p.Lys8496Asn)
c.25485G>T (p.Lys8495Asn)
c.25473G>T (p.Lys8491Asn)
c.25416G>T (p.Lys8472Asn)
c.25404G>T (p.Lys8468Asn)
c.25401G>T (p.Lys8467Asn)
c.25398G>T (p.Lys8466Asn)
c.25554G>T (p.Lys8518Asn)
c.25392G>T (p.Lys8464Asn)
c.23832G>T (p.Lys7944Asn)
c.23325G>T (p.Lys7775Asn)
c.18792G>T (p.Lys6264Asn)
c.2058G>T (p.Lys686Asn)
c.25530G>T (p.Lys8510Asn)
c.25479G>T (p.Lys8493Asn)
c.25332G>T (p.Lys8444Asn)
6g.152139956C>GCA366079935SYNE1c.1986G>C (p.Lys662Asn)
c.25452G>C (p.Lys8484Asn)
c.25308G>C (p.Lys8436Asn)
c.854G>C
c.1187G>C
c.1096G>C
c.1224G>C (p.Lys408Asn)
c.24237G>C (p.Lys8079Asn)
n.2200G>C
c.4287G>C (p.Lys1429Asn)
n.9144G>C
c.3390G>C (p.Lys1130Asn)
n.9036G>C
n.2066G>C
n.4474G>C
n.2289G>C
c.1917G>C (p.Lys639Asn)
c.25557G>C (p.Lys8519Asn)
c.25545G>C (p.Lys8515Asn)
c.25536G>C (p.Lys8512Asn)
c.25506G>C (p.Lys8502Asn)
c.25542G>C (p.Lys8514Asn)
c.25488G>C (p.Lys8496Asn)
c.25485G>C (p.Lys8495Asn)
c.25473G>C (p.Lys8491Asn)
c.25416G>C (p.Lys8472Asn)
c.25404G>C (p.Lys8468Asn)
c.25401G>C (p.Lys8467Asn)
c.25398G>C (p.Lys8466Asn)
c.25554G>C (p.Lys8518Asn)
c.25392G>C (p.Lys8464Asn)
c.23832G>C (p.Lys7944Asn)
c.23325G>C (p.Lys7775Asn)
c.18792G>C (p.Lys6264Asn)
c.2058G>C (p.Lys686Asn)
c.25530G>C (p.Lys8510Asn)
c.25479G>C (p.Lys8493Asn)
c.25332G>C (p.Lys8444Asn)
6g.152139956C>TCA452969798SYNE1c.1986G>A (p.Lys662=)
c.25452G>A (p.Lys8484=)
c.25308G>A (p.Lys8436=)
c.854G>A
c.1187G>A
c.1096G>A
c.1224G>A (p.Lys408=)
c.24237G>A (p.Lys8079=)
n.2200G>A
c.4287G>A (p.Lys1429=)
n.9144G>A
c.3390G>A (p.Lys1130=)
n.9036G>A
n.2066G>A
n.4474G>A
n.2289G>A
c.1917G>A (p.Lys639=)
c.25557G>A (p.Lys8519=)
c.25545G>A (p.Lys8515=)
c.25536G>A (p.Lys8512=)
c.25506G>A (p.Lys8502=)
c.25542G>A (p.Lys8514=)
c.25488G>A (p.Lys8496=)
c.25485G>A (p.Lys8495=)
c.25473G>A (p.Lys8491=)
c.25416G>A (p.Lys8472=)
c.25404G>A (p.Lys8468=)
c.25401G>A (p.Lys8467=)
c.25398G>A (p.Lys8466=)
c.25554G>A (p.Lys8518=)
c.25392G>A (p.Lys8464=)
c.23832G>A (p.Lys7944=)
c.23325G>A (p.Lys7775=)
c.18792G>A (p.Lys6264=)
c.2058G>A (p.Lys686=)
c.25530G>A (p.Lys8510=)
c.25479G>A (p.Lys8493=)
c.25332G>A (p.Lys8444=)
6g.152139957T>ACA366079941SYNE1c.1985A>T (p.Lys662Met)
c.25451A>T (p.Lys8484Met)
c.25307A>T (p.Lys8436Met)
c.853A>T
c.1186A>T
c.1095A>T
c.1223A>T (p.Lys408Met)
c.24236A>T (p.Lys8079Met)
n.2199A>T
c.4286A>T (p.Lys1429Met)
n.9143A>T
c.3389A>T (p.Lys1130Met)
n.9035A>T
n.2065A>T
n.4473A>T
n.2288A>T
c.1916A>T (p.Lys639Met)
c.25556A>T (p.Lys8519Met)
c.25544A>T (p.Lys8515Met)
c.25535A>T (p.Lys8512Met)
c.25505A>T (p.Lys8502Met)
c.25541A>T (p.Lys8514Met)
c.25487A>T (p.Lys8496Met)
c.25484A>T (p.Lys8495Met)
c.25472A>T (p.Lys8491Met)
c.25415A>T (p.Lys8472Met)
c.25403A>T (p.Lys8468Met)
c.25400A>T (p.Lys8467Met)
c.25397A>T (p.Lys8466Met)
c.25553A>T (p.Lys8518Met)
c.25391A>T (p.Lys8464Met)
c.23831A>T (p.Lys7944Met)
c.23324A>T (p.Lys7775Met)
c.18791A>T (p.Lys6264Met)
c.2057A>T (p.Lys686Met)
c.25529A>T (p.Lys8510Met)
c.25478A>T (p.Lys8493Met)
c.25331A>T (p.Lys8444Met)
6g.152139957T>CCA366079940SYNE1c.1985A>G (p.Lys662Arg)
c.25451A>G (p.Lys8484Arg)
c.25307A>G (p.Lys8436Arg)
c.853A>G
c.1186A>G
c.1095A>G
c.1223A>G (p.Lys408Arg)
c.24236A>G (p.Lys8079Arg)
n.2199A>G
c.4286A>G (p.Lys1429Arg)
n.9143A>G
c.3389A>G (p.Lys1130Arg)
n.9035A>G
n.2065A>G
n.4473A>G
n.2288A>G
c.1916A>G (p.Lys639Arg)
c.25556A>G (p.Lys8519Arg)
c.25544A>G (p.Lys8515Arg)
c.25535A>G (p.Lys8512Arg)
c.25505A>G (p.Lys8502Arg)
c.25541A>G (p.Lys8514Arg)
c.25487A>G (p.Lys8496Arg)
c.25484A>G (p.Lys8495Arg)
c.25472A>G (p.Lys8491Arg)
c.25415A>G (p.Lys8472Arg)
c.25403A>G (p.Lys8468Arg)
c.25400A>G (p.Lys8467Arg)
c.25397A>G (p.Lys8466Arg)
c.25553A>G (p.Lys8518Arg)
c.25391A>G (p.Lys8464Arg)
c.23831A>G (p.Lys7944Arg)
c.23324A>G (p.Lys7775Arg)
c.18791A>G (p.Lys6264Arg)
c.2057A>G (p.Lys686Arg)
c.25529A>G (p.Lys8510Arg)
c.25478A>G (p.Lys8493Arg)
c.25331A>G (p.Lys8444Arg)
6g.152139957T>GCA366079938SYNE1c.1985A>C (p.Lys662Thr)
c.25451A>C (p.Lys8484Thr)
c.25307A>C (p.Lys8436Thr)
c.853A>C
c.1186A>C
c.1095A>C
c.1223A>C (p.Lys408Thr)
c.24236A>C (p.Lys8079Thr)
n.2199A>C
c.4286A>C (p.Lys1429Thr)
n.9143A>C
c.3389A>C (p.Lys1130Thr)
n.9035A>C
n.2065A>C
n.4473A>C
n.2288A>C
c.1916A>C (p.Lys639Thr)
c.25556A>C (p.Lys8519Thr)
c.25544A>C (p.Lys8515Thr)
c.25535A>C (p.Lys8512Thr)
c.25505A>C (p.Lys8502Thr)
c.25541A>C (p.Lys8514Thr)
c.25487A>C (p.Lys8496Thr)
c.25484A>C (p.Lys8495Thr)
c.25472A>C (p.Lys8491Thr)
c.25415A>C (p.Lys8472Thr)
c.25403A>C (p.Lys8468Thr)
c.25400A>C (p.Lys8467Thr)
c.25397A>C (p.Lys8466Thr)
c.25553A>C (p.Lys8518Thr)
c.25391A>C (p.Lys8464Thr)
c.23831A>C (p.Lys7944Thr)
c.23324A>C (p.Lys7775Thr)
c.18791A>C (p.Lys6264Thr)
c.2057A>C (p.Lys686Thr)
c.25529A>C (p.Lys8510Thr)
c.25478A>C (p.Lys8493Thr)
c.25331A>C (p.Lys8444Thr)
6g.152139958T>ACA366079942SYNE1c.1984A>T (p.Lys662Ter)
c.25450A>T (p.Lys8484Ter)
c.25306A>T (p.Lys8436Ter)
c.852A>T
c.1185A>T
c.1094A>T
c.1222A>T (p.Lys408Ter)
c.24235A>T (p.Lys8079Ter)
n.2198A>T
c.4285A>T (p.Lys1429Ter)
n.9142A>T
c.3388A>T (p.Lys1130Ter)
n.9034A>T
n.2064A>T
n.4472A>T
n.2287A>T
c.1915A>T (p.Lys639Ter)
c.25555A>T (p.Lys8519Ter)
c.25543A>T (p.Lys8515Ter)
c.25534A>T (p.Lys8512Ter)
c.25504A>T (p.Lys8502Ter)
c.25540A>T (p.Lys8514Ter)
c.25486A>T (p.Lys8496Ter)
c.25483A>T (p.Lys8495Ter)
c.25471A>T (p.Lys8491Ter)
c.25414A>T (p.Lys8472Ter)
c.25402A>T (p.Lys8468Ter)
c.25399A>T (p.Lys8467Ter)
c.25396A>T (p.Lys8466Ter)
c.25552A>T (p.Lys8518Ter)
c.25390A>T (p.Lys8464Ter)
c.23830A>T (p.Lys7944Ter)
c.23323A>T (p.Lys7775Ter)
c.18790A>T (p.Lys6264Ter)
c.2056A>T (p.Lys686Ter)
c.25528A>T (p.Lys8510Ter)
c.25477A>T (p.Lys8493Ter)
c.25330A>T (p.Lys8444Ter)
6g.152139958T>CCA366079944SYNE1c.1984A>G (p.Lys662Glu)
c.25450A>G (p.Lys8484Glu)
c.25306A>G (p.Lys8436Glu)
c.852A>G
c.1185A>G
c.1094A>G
c.1222A>G (p.Lys408Glu)
c.24235A>G (p.Lys8079Glu)
n.2198A>G
c.4285A>G (p.Lys1429Glu)
n.9142A>G
c.3388A>G (p.Lys1130Glu)
n.9034A>G
n.2064A>G
n.4472A>G
n.2287A>G
c.1915A>G (p.Lys639Glu)
c.25555A>G (p.Lys8519Glu)
c.25543A>G (p.Lys8515Glu)
c.25534A>G (p.Lys8512Glu)
c.25504A>G (p.Lys8502Glu)
c.25540A>G (p.Lys8514Glu)
c.25486A>G (p.Lys8496Glu)
c.25483A>G (p.Lys8495Glu)
c.25471A>G (p.Lys8491Glu)
c.25414A>G (p.Lys8472Glu)
c.25402A>G (p.Lys8468Glu)
c.25399A>G (p.Lys8467Glu)
c.25396A>G (p.Lys8466Glu)
c.25552A>G (p.Lys8518Glu)
c.25390A>G (p.Lys8464Glu)
c.23830A>G (p.Lys7944Glu)
c.23323A>G (p.Lys7775Glu)
c.18790A>G (p.Lys6264Glu)
c.2056A>G (p.Lys686Glu)
c.25528A>G (p.Lys8510Glu)
c.25477A>G (p.Lys8493Glu)
c.25330A>G (p.Lys8444Glu)
6g.152139958T>GCA366079946SYNE1c.1984A>C (p.Lys662Gln)
c.25450A>C (p.Lys8484Gln)
c.25306A>C (p.Lys8436Gln)
c.852A>C
c.1185A>C
c.1094A>C
c.1222A>C (p.Lys408Gln)
c.24235A>C (p.Lys8079Gln)
n.2198A>C
c.4285A>C (p.Lys1429Gln)
n.9142A>C
c.3388A>C (p.Lys1130Gln)
n.9034A>C
n.2064A>C
n.4472A>C
n.2287A>C
c.1915A>C (p.Lys639Gln)
c.25555A>C (p.Lys8519Gln)
c.25543A>C (p.Lys8515Gln)
c.25534A>C (p.Lys8512Gln)
c.25504A>C (p.Lys8502Gln)
c.25540A>C (p.Lys8514Gln)
c.25486A>C (p.Lys8496Gln)
c.25483A>C (p.Lys8495Gln)
c.25471A>C (p.Lys8491Gln)
c.25414A>C (p.Lys8472Gln)
c.25402A>C (p.Lys8468Gln)
c.25399A>C (p.Lys8467Gln)
c.25396A>C (p.Lys8466Gln)
c.25552A>C (p.Lys8518Gln)
c.25390A>C (p.Lys8464Gln)
c.23830A>C (p.Lys7944Gln)
c.23323A>C (p.Lys7775Gln)
c.18790A>C (p.Lys6264Gln)
c.2056A>C (p.Lys686Gln)
c.25528A>C (p.Lys8510Gln)
c.25477A>C (p.Lys8493Gln)
c.25330A>C (p.Lys8444Gln)
6g.152139959T>ACA366079948SYNE1c.1983A>T (p.Lys661Asn)
c.25449A>T (p.Lys8483Asn)
c.25305A>T (p.Lys8435Asn)
c.851A>T
c.1184A>T
c.1093A>T
c.1221A>T (p.Lys407Asn)
c.24234A>T (p.Lys8078Asn)
n.2197A>T
c.4284A>T (p.Lys1428Asn)
n.9141A>T
c.3387A>T (p.Lys1129Asn)
n.9033A>T
n.2063A>T
n.4471A>T
n.2286A>T
c.1914A>T (p.Lys638Asn)
c.25554A>T (p.Lys8518Asn)
c.25542A>T (p.Lys8514Asn)
c.25533A>T (p.Lys8511Asn)
c.25503A>T (p.Lys8501Asn)
c.25539A>T (p.Lys8513Asn)
c.25485A>T (p.Lys8495Asn)
c.25482A>T (p.Lys8494Asn)
c.25470A>T (p.Lys8490Asn)
c.25413A>T (p.Lys8471Asn)
c.25401A>T (p.Lys8467Asn)
c.25398A>T (p.Lys8466Asn)
c.25395A>T (p.Lys8465Asn)
c.25551A>T (p.Lys8517Asn)
c.25389A>T (p.Lys8463Asn)
c.23829A>T (p.Lys7943Asn)
c.23322A>T (p.Lys7774Asn)
c.18789A>T (p.Lys6263Asn)
c.2055A>T (p.Lys685Asn)
c.25527A>T (p.Lys8509Asn)
c.25476A>T (p.Lys8492Asn)
c.25329A>T (p.Lys8443Asn)
6g.152139959T>CCA452969799SYNE1c.1983A>G (p.Lys661=)
c.25449A>G (p.Lys8483=)
c.25305A>G (p.Lys8435=)
c.851A>G
c.1184A>G
c.1093A>G
c.1221A>G (p.Lys407=)
c.24234A>G (p.Lys8078=)
n.2197A>G
c.4284A>G (p.Lys1428=)
n.9141A>G
c.3387A>G (p.Lys1129=)
n.9033A>G
n.2063A>G
n.4471A>G
n.2286A>G
c.1914A>G (p.Lys638=)
c.25554A>G (p.Lys8518=)
c.25542A>G (p.Lys8514=)
c.25533A>G (p.Lys8511=)
c.25503A>G (p.Lys8501=)
c.25539A>G (p.Lys8513=)
c.25485A>G (p.Lys8495=)
c.25482A>G (p.Lys8494=)
c.25470A>G (p.Lys8490=)
c.25413A>G (p.Lys8471=)
c.25401A>G (p.Lys8467=)
c.25398A>G (p.Lys8466=)
c.25395A>G (p.Lys8465=)
c.25551A>G (p.Lys8517=)
c.25389A>G (p.Lys8463=)
c.23829A>G (p.Lys7943=)
c.23322A>G (p.Lys7774=)
c.18789A>G (p.Lys6263=)
c.2055A>G (p.Lys685=)
c.25527A>G (p.Lys8509=)
c.25476A>G (p.Lys8492=)
c.25329A>G (p.Lys8443=)
6g.152139959T>GCA366079949SYNE1c.1983A>C (p.Lys661Asn)
c.25449A>C (p.Lys8483Asn)
c.25305A>C (p.Lys8435Asn)
c.851A>C
c.1184A>C
c.1093A>C
c.1221A>C (p.Lys407Asn)
c.24234A>C (p.Lys8078Asn)
n.2197A>C
c.4284A>C (p.Lys1428Asn)
n.9141A>C
c.3387A>C (p.Lys1129Asn)
n.9033A>C
n.2063A>C
n.4471A>C
n.2286A>C
c.1914A>C (p.Lys638Asn)
c.25554A>C (p.Lys8518Asn)
c.25542A>C (p.Lys8514Asn)
c.25533A>C (p.Lys8511Asn)
c.25503A>C (p.Lys8501Asn)
c.25539A>C (p.Lys8513Asn)
c.25485A>C (p.Lys8495Asn)
c.25482A>C (p.Lys8494Asn)
c.25470A>C (p.Lys8490Asn)
c.25413A>C (p.Lys8471Asn)
c.25401A>C (p.Lys8467Asn)
c.25398A>C (p.Lys8466Asn)
c.25395A>C (p.Lys8465Asn)
c.25551A>C (p.Lys8517Asn)
c.25389A>C (p.Lys8463Asn)
c.23829A>C (p.Lys7943Asn)
c.23322A>C (p.Lys7774Asn)
c.18789A>C (p.Lys6263Asn)
c.2055A>C (p.Lys685Asn)
c.25527A>C (p.Lys8509Asn)
c.25476A>C (p.Lys8492Asn)
c.25329A>C (p.Lys8443Asn)
6g.152139960T>ACA366079951SYNE1c.1982A>T (p.Lys661Ile)
c.25448A>T (p.Lys8483Ile)
c.25304A>T (p.Lys8435Ile)
c.850A>T
c.1183A>T
c.1092A>T
c.1220A>T (p.Lys407Ile)
c.24233A>T (p.Lys8078Ile)
n.2196A>T
c.4283A>T (p.Lys1428Ile)
n.9140A>T
c.3386A>T (p.Lys1129Ile)
n.9032A>T
n.2062A>T
n.4470A>T
n.2285A>T
c.1913A>T (p.Lys638Ile)
c.25553A>T (p.Lys8518Ile)
c.25541A>T (p.Lys8514Ile)
c.25532A>T (p.Lys8511Ile)
c.25502A>T (p.Lys8501Ile)
c.25538A>T (p.Lys8513Ile)
c.25484A>T (p.Lys8495Ile)
c.25481A>T (p.Lys8494Ile)
c.25469A>T (p.Lys8490Ile)
c.25412A>T (p.Lys8471Ile)
c.25400A>T (p.Lys8467Ile)
c.25397A>T (p.Lys8466Ile)
c.25394A>T (p.Lys8465Ile)
c.25550A>T (p.Lys8517Ile)
c.25388A>T (p.Lys8463Ile)
c.23828A>T (p.Lys7943Ile)
c.23321A>T (p.Lys7774Ile)
c.18788A>T (p.Lys6263Ile)
c.2054A>T (p.Lys685Ile)
c.25526A>T (p.Lys8509Ile)
c.25475A>T (p.Lys8492Ile)
c.25328A>T (p.Lys8443Ile)
6g.152139960T>CCA4052845SYNE1c.1982A>G (p.Lys661Arg)
c.25448A>G (p.Lys8483Arg)
c.25304A>G (p.Lys8435Arg)
c.850A>G
c.1183A>G
c.1092A>G
c.1220A>G (p.Lys407Arg)
c.24233A>G (p.Lys8078Arg)
n.2196A>G
c.4283A>G (p.Lys1428Arg)
n.9140A>G
c.3386A>G (p.Lys1129Arg)
n.9032A>G
n.2062A>G
n.4470A>G
n.2285A>G
c.1913A>G (p.Lys638Arg)
c.25553A>G (p.Lys8518Arg)
c.25541A>G (p.Lys8514Arg)
c.25532A>G (p.Lys8511Arg)
c.25502A>G (p.Lys8501Arg)
c.25538A>G (p.Lys8513Arg)
c.25484A>G (p.Lys8495Arg)
c.25481A>G (p.Lys8494Arg)
c.25469A>G (p.Lys8490Arg)
c.25412A>G (p.Lys8471Arg)
c.25400A>G (p.Lys8467Arg)
c.25397A>G (p.Lys8466Arg)
c.25394A>G (p.Lys8465Arg)
c.25550A>G (p.Lys8517Arg)
c.25388A>G (p.Lys8463Arg)
c.23828A>G (p.Lys7943Arg)
c.23321A>G (p.Lys7774Arg)
c.18788A>G (p.Lys6263Arg)
c.2054A>G (p.Lys685Arg)
c.25526A>G (p.Lys8509Arg)
c.25475A>G (p.Lys8492Arg)
c.25328A>G (p.Lys8443Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152139960T>GCA366079953SYNE1c.1982A>C (p.Lys661Thr)
c.25448A>C (p.Lys8483Thr)
c.25304A>C (p.Lys8435Thr)
c.850A>C
c.1183A>C
c.1092A>C
c.1220A>C (p.Lys407Thr)
c.24233A>C (p.Lys8078Thr)
n.2196A>C
c.4283A>C (p.Lys1428Thr)
n.9140A>C
c.3386A>C (p.Lys1129Thr)
n.9032A>C
n.2062A>C
n.4470A>C
n.2285A>C
c.1913A>C (p.Lys638Thr)
c.25553A>C (p.Lys8518Thr)
c.25541A>C (p.Lys8514Thr)
c.25532A>C (p.Lys8511Thr)
c.25502A>C (p.Lys8501Thr)
c.25538A>C (p.Lys8513Thr)
c.25484A>C (p.Lys8495Thr)
c.25481A>C (p.Lys8494Thr)
c.25469A>C (p.Lys8490Thr)
c.25412A>C (p.Lys8471Thr)
c.25400A>C (p.Lys8467Thr)
c.25397A>C (p.Lys8466Thr)
c.25394A>C (p.Lys8465Thr)
c.25550A>C (p.Lys8517Thr)
c.25388A>C (p.Lys8463Thr)
c.23828A>C (p.Lys7943Thr)
c.23321A>C (p.Lys7774Thr)
c.18788A>C (p.Lys6263Thr)
c.2054A>C (p.Lys685Thr)
c.25526A>C (p.Lys8509Thr)
c.25475A>C (p.Lys8492Thr)
c.25328A>C (p.Lys8443Thr)
6g.152139960T=CA1673206103SYNE1c.1982A= (p.Lys661=)
c.25448A= (p.Lys8483=)
c.25304A= (p.Lys8435=)
c.850A=
c.1183A=
c.1092A=
c.1220A= (p.Lys407=)
c.24233A= (p.Lys8078=)
n.2196A=
c.4283A= (p.Lys1428=)
n.9140A=
c.3386A= (p.Lys1129=)
n.9032A=
n.2062A=
n.4470A=
n.2285A=
c.1913A= (p.Lys638=)
c.25553A= (p.Lys8518=)
c.25541A= (p.Lys8514=)
c.25532A= (p.Lys8511=)
c.25502A= (p.Lys8501=)
c.25538A= (p.Lys8513=)
c.25484A= (p.Lys8495=)
c.25481A= (p.Lys8494=)
c.25469A= (p.Lys8490=)
c.25412A= (p.Lys8471=)
c.25400A= (p.Lys8467=)
c.25397A= (p.Lys8466=)
c.25394A= (p.Lys8465=)
c.25550A= (p.Lys8517=)
c.25388A= (p.Lys8463=)
c.23828A= (p.Lys7943=)
c.23321A= (p.Lys7774=)
c.18788A= (p.Lys6263=)
c.2054A= (p.Lys685=)
c.25526A= (p.Lys8509=)
c.25475A= (p.Lys8492=)
c.25328A= (p.Lys8443=)
6g.152139961T>ACA366079955SYNE1c.1981A>T (p.Lys661Ter)
c.25447A>T (p.Lys8483Ter)
c.25303A>T (p.Lys8435Ter)
c.849A>T
c.1182A>T
c.1091A>T
c.1219A>T (p.Lys407Ter)
c.24232A>T (p.Lys8078Ter)
n.2195A>T
c.4282A>T (p.Lys1428Ter)
n.9139A>T
c.3385A>T (p.Lys1129Ter)
n.9031A>T
n.2061A>T
n.4469A>T
n.2284A>T
c.1912A>T (p.Lys638Ter)
c.25552A>T (p.Lys8518Ter)
c.25540A>T (p.Lys8514Ter)
c.25531A>T (p.Lys8511Ter)
c.25501A>T (p.Lys8501Ter)
c.25537A>T (p.Lys8513Ter)
c.25483A>T (p.Lys8495Ter)
c.25480A>T (p.Lys8494Ter)
c.25468A>T (p.Lys8490Ter)
c.25411A>T (p.Lys8471Ter)
c.25399A>T (p.Lys8467Ter)
c.25396A>T (p.Lys8466Ter)
c.25393A>T (p.Lys8465Ter)
c.25549A>T (p.Lys8517Ter)
c.25387A>T (p.Lys8463Ter)
c.23827A>T (p.Lys7943Ter)
c.23320A>T (p.Lys7774Ter)
c.18787A>T (p.Lys6263Ter)
c.2053A>T (p.Lys685Ter)
c.25525A>T (p.Lys8509Ter)
c.25474A>T (p.Lys8492Ter)
c.25327A>T (p.Lys8443Ter)
6g.152139961T>CCA366079957SYNE1c.1981A>G (p.Lys661Glu)
c.25447A>G (p.Lys8483Glu)
c.25303A>G (p.Lys8435Glu)
c.849A>G
c.1182A>G
c.1091A>G
c.1219A>G (p.Lys407Glu)
c.24232A>G (p.Lys8078Glu)
n.2195A>G
c.4282A>G (p.Lys1428Glu)
n.9139A>G
c.3385A>G (p.Lys1129Glu)
n.9031A>G
n.2061A>G
n.4469A>G
n.2284A>G
c.1912A>G (p.Lys638Glu)
c.25552A>G (p.Lys8518Glu)
c.25540A>G (p.Lys8514Glu)
c.25531A>G (p.Lys8511Glu)
c.25501A>G (p.Lys8501Glu)
c.25537A>G (p.Lys8513Glu)
c.25483A>G (p.Lys8495Glu)
c.25480A>G (p.Lys8494Glu)
c.25468A>G (p.Lys8490Glu)
c.25411A>G (p.Lys8471Glu)
c.25399A>G (p.Lys8467Glu)
c.25396A>G (p.Lys8466Glu)
c.25393A>G (p.Lys8465Glu)
c.25549A>G (p.Lys8517Glu)
c.25387A>G (p.Lys8463Glu)
c.23827A>G (p.Lys7943Glu)
c.23320A>G (p.Lys7774Glu)
c.18787A>G (p.Lys6263Glu)
c.2053A>G (p.Lys685Glu)
c.25525A>G (p.Lys8509Glu)
c.25474A>G (p.Lys8492Glu)
c.25327A>G (p.Lys8443Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152139961T>GCA366079959SYNE1c.1981A>C (p.Lys661Gln)
c.25447A>C (p.Lys8483Gln)
c.25303A>C (p.Lys8435Gln)
c.849A>C
c.1182A>C
c.1091A>C
c.1219A>C (p.Lys407Gln)
c.24232A>C (p.Lys8078Gln)
n.2195A>C
c.4282A>C (p.Lys1428Gln)
n.9139A>C
c.3385A>C (p.Lys1129Gln)
n.9031A>C
n.2061A>C
n.4469A>C
n.2284A>C
c.1912A>C (p.Lys638Gln)
c.25552A>C (p.Lys8518Gln)
c.25540A>C (p.Lys8514Gln)
c.25531A>C (p.Lys8511Gln)
c.25501A>C (p.Lys8501Gln)
c.25537A>C (p.Lys8513Gln)
c.25483A>C (p.Lys8495Gln)
c.25480A>C (p.Lys8494Gln)
c.25468A>C (p.Lys8490Gln)
c.25411A>C (p.Lys8471Gln)
c.25399A>C (p.Lys8467Gln)
c.25396A>C (p.Lys8466Gln)
c.25393A>C (p.Lys8465Gln)
c.25549A>C (p.Lys8517Gln)
c.25387A>C (p.Lys8463Gln)
c.23827A>C (p.Lys7943Gln)
c.23320A>C (p.Lys7774Gln)
c.18787A>C (p.Lys6263Gln)
c.2053A>C (p.Lys685Gln)
c.25525A>C (p.Lys8509Gln)
c.25474A>C (p.Lys8492Gln)
c.25327A>C (p.Lys8443Gln)
6g.152139961T=CA1673206109SYNE1c.1981A= (p.Lys661=)
c.25447A= (p.Lys8483=)
c.25303A= (p.Lys8435=)
c.849A=
c.1182A=
c.1091A=
c.1219A= (p.Lys407=)
c.24232A= (p.Lys8078=)
n.2195A=
c.4282A= (p.Lys1428=)
n.9139A=
c.3385A= (p.Lys1129=)
n.9031A=
n.2061A=
n.4469A=
n.2284A=
c.1912A= (p.Lys638=)
c.25552A= (p.Lys8518=)
c.25540A= (p.Lys8514=)
c.25531A= (p.Lys8511=)
c.25501A= (p.Lys8501=)
c.25537A= (p.Lys8513=)
c.25483A= (p.Lys8495=)
c.25480A= (p.Lys8494=)
c.25468A= (p.Lys8490=)
c.25411A= (p.Lys8471=)
c.25399A= (p.Lys8467=)
c.25396A= (p.Lys8466=)
c.25393A= (p.Lys8465=)
c.25549A= (p.Lys8517=)
c.25387A= (p.Lys8463=)
c.23827A= (p.Lys7943=)
c.23320A= (p.Lys7774=)
c.18787A= (p.Lys6263=)
c.2053A= (p.Lys685=)
c.25525A= (p.Lys8509=)
c.25474A= (p.Lys8492=)
c.25327A= (p.Lys8443=)
6g.152139962G>ACA452969800SYNE1c.1980C>T (p.Ile660=)
c.25446C>T (p.Ile8482=)
c.25302C>T (p.Ile8434=)
c.848C>T
c.1181C>T
c.1090C>T
c.1218C>T (p.Ile406=)
c.24231C>T (p.Ile8077=)
n.2194C>T
c.4281C>T (p.Ile1427=)
n.9138C>T
c.3384C>T (p.Ile1128=)
n.9030C>T
n.2060C>T
n.4468C>T
n.2283C>T
c.1911C>T (p.Ile637=)
c.25551C>T (p.Ile8517=)
c.25539C>T (p.Ile8513=)
c.25530C>T (p.Ile8510=)
c.25500C>T (p.Ile8500=)
c.25536C>T (p.Ile8512=)
c.25482C>T (p.Ile8494=)
c.25479C>T (p.Ile8493=)
c.25467C>T (p.Ile8489=)
c.25410C>T (p.Ile8470=)
c.25398C>T (p.Ile8466=)
c.25395C>T (p.Ile8465=)
c.25392C>T (p.Ile8464=)
c.25548C>T (p.Ile8516=)
c.25386C>T (p.Ile8462=)
c.23826C>T (p.Ile7942=)
c.23319C>T (p.Ile7773=)
c.18786C>T (p.Ile6262=)
c.2052C>T (p.Ile684=)
c.25524C>T (p.Ile8508=)
c.25473C>T (p.Ile8491=)
c.25326C>T (p.Ile8442=)
 gnomAD v4
6g.152139962G>CCA366079960SYNE1c.1980C>G (p.Ile660Met)
c.25446C>G (p.Ile8482Met)
c.25302C>G (p.Ile8434Met)
c.848C>G
c.1181C>G
c.1090C>G
c.1218C>G (p.Ile406Met)
c.24231C>G (p.Ile8077Met)
n.2194C>G
c.4281C>G (p.Ile1427Met)
n.9138C>G
c.3384C>G (p.Ile1128Met)
n.9030C>G
n.2060C>G
n.4468C>G
n.2283C>G
c.1911C>G (p.Ile637Met)
c.25551C>G (p.Ile8517Met)
c.25539C>G (p.Ile8513Met)
c.25530C>G (p.Ile8510Met)
c.25500C>G (p.Ile8500Met)
c.25536C>G (p.Ile8512Met)
c.25482C>G (p.Ile8494Met)
c.25479C>G (p.Ile8493Met)
c.25467C>G (p.Ile8489Met)
c.25410C>G (p.Ile8470Met)
c.25398C>G (p.Ile8466Met)
c.25395C>G (p.Ile8465Met)
c.25392C>G (p.Ile8464Met)
c.25548C>G (p.Ile8516Met)
c.25386C>G (p.Ile8462Met)
c.23826C>G (p.Ile7942Met)
c.23319C>G (p.Ile7773Met)
c.18786C>G (p.Ile6262Met)
c.2052C>G (p.Ile684Met)
c.25524C>G (p.Ile8508Met)
c.25473C>G (p.Ile8491Met)
c.25326C>G (p.Ile8442Met)
 gnomAD v4
6g.152139962G=CA1673206117SYNE1c.1980C= (p.Ile660=)
c.25446C= (p.Ile8482=)
c.25302C= (p.Ile8434=)
c.848C=
c.1181C=
c.1090C=
c.1218C= (p.Ile406=)
c.24231C= (p.Ile8077=)
n.2194C=
c.4281C= (p.Ile1427=)
n.9138C=
c.3384C= (p.Ile1128=)
n.9030C=
n.2060C=
n.4468C=
n.2283C=
c.1911C= (p.Ile637=)
c.25551C= (p.Ile8517=)
c.25539C= (p.Ile8513=)
c.25530C= (p.Ile8510=)
c.25500C= (p.Ile8500=)
c.25536C= (p.Ile8512=)
c.25482C= (p.Ile8494=)
c.25479C= (p.Ile8493=)
c.25467C= (p.Ile8489=)
c.25410C= (p.Ile8470=)
c.25398C= (p.Ile8466=)
c.25395C= (p.Ile8465=)
c.25392C= (p.Ile8464=)
c.25548C= (p.Ile8516=)
c.25386C= (p.Ile8462=)
c.23826C= (p.Ile7942=)
c.23319C= (p.Ile7773=)
c.18786C= (p.Ile6262=)
c.2052C= (p.Ile684=)
c.25524C= (p.Ile8508=)
c.25473C= (p.Ile8491=)
c.25326C= (p.Ile8442=)
6g.152139962G>TCA452969801SYNE1c.1980C>A (p.Ile660=)
c.25446C>A (p.Ile8482=)
c.25302C>A (p.Ile8434=)
c.848C>A
c.1181C>A
c.1090C>A
c.1218C>A (p.Ile406=)
c.24231C>A (p.Ile8077=)
n.2194C>A
c.4281C>A (p.Ile1427=)
n.9138C>A
c.3384C>A (p.Ile1128=)
n.9030C>A
n.2060C>A
n.4468C>A
n.2283C>A
c.1911C>A (p.Ile637=)
c.25551C>A (p.Ile8517=)
c.25539C>A (p.Ile8513=)
c.25530C>A (p.Ile8510=)
c.25500C>A (p.Ile8500=)
c.25536C>A (p.Ile8512=)
c.25482C>A (p.Ile8494=)
c.25479C>A (p.Ile8493=)
c.25467C>A (p.Ile8489=)
c.25410C>A (p.Ile8470=)
c.25398C>A (p.Ile8466=)
c.25395C>A (p.Ile8465=)
c.25392C>A (p.Ile8464=)
c.25548C>A (p.Ile8516=)
c.25386C>A (p.Ile8462=)
c.23826C>A (p.Ile7942=)
c.23319C>A (p.Ile7773=)
c.18786C>A (p.Ile6262=)
c.2052C>A (p.Ile684=)
c.25524C>A (p.Ile8508=)
c.25473C>A (p.Ile8491=)
c.25326C>A (p.Ile8442=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139963A>CCA366079963SYNE1c.1979T>G (p.Ile660Ser)
c.25445T>G (p.Ile8482Ser)
c.25301T>G (p.Ile8434Ser)
c.847T>G
c.1180T>G
c.1089T>G
c.1217T>G (p.Ile406Ser)
c.24230T>G (p.Ile8077Ser)
n.2193T>G
c.4280T>G (p.Ile1427Ser)
n.9137T>G
c.3383T>G (p.Ile1128Ser)
n.9029T>G
n.2059T>G
n.4467T>G
n.2282T>G
c.1910T>G (p.Ile637Ser)
c.25550T>G (p.Ile8517Ser)
c.25538T>G (p.Ile8513Ser)
c.25529T>G (p.Ile8510Ser)
c.25499T>G (p.Ile8500Ser)
c.25535T>G (p.Ile8512Ser)
c.25481T>G (p.Ile8494Ser)
c.25478T>G (p.Ile8493Ser)
c.25466T>G (p.Ile8489Ser)
c.25409T>G (p.Ile8470Ser)
c.25397T>G (p.Ile8466Ser)
c.25394T>G (p.Ile8465Ser)
c.25391T>G (p.Ile8464Ser)
c.25547T>G (p.Ile8516Ser)
c.25385T>G (p.Ile8462Ser)
c.23825T>G (p.Ile7942Ser)
c.23318T>G (p.Ile7773Ser)
c.18785T>G (p.Ile6262Ser)
c.2051T>G (p.Ile684Ser)
c.25523T>G (p.Ile8508Ser)
c.25472T>G (p.Ile8491Ser)
c.25325T>G (p.Ile8442Ser)
6g.152139963A>GCA366079966SYNE1c.1979T>C (p.Ile660Thr)
c.25445T>C (p.Ile8482Thr)
c.25301T>C (p.Ile8434Thr)
c.847T>C
c.1180T>C
c.1089T>C
c.1217T>C (p.Ile406Thr)
c.24230T>C (p.Ile8077Thr)
n.2193T>C
c.4280T>C (p.Ile1427Thr)
n.9137T>C
c.3383T>C (p.Ile1128Thr)
n.9029T>C
n.2059T>C
n.4467T>C
n.2282T>C
c.1910T>C (p.Ile637Thr)
c.25550T>C (p.Ile8517Thr)
c.25538T>C (p.Ile8513Thr)
c.25529T>C (p.Ile8510Thr)
c.25499T>C (p.Ile8500Thr)
c.25535T>C (p.Ile8512Thr)
c.25481T>C (p.Ile8494Thr)
c.25478T>C (p.Ile8493Thr)
c.25466T>C (p.Ile8489Thr)
c.25409T>C (p.Ile8470Thr)
c.25397T>C (p.Ile8466Thr)
c.25394T>C (p.Ile8465Thr)
c.25391T>C (p.Ile8464Thr)
c.25547T>C (p.Ile8516Thr)
c.25385T>C (p.Ile8462Thr)
c.23825T>C (p.Ile7942Thr)
c.23318T>C (p.Ile7773Thr)
c.18785T>C (p.Ile6262Thr)
c.2051T>C (p.Ile684Thr)
c.25523T>C (p.Ile8508Thr)
c.25472T>C (p.Ile8491Thr)
c.25325T>C (p.Ile8442Thr)
6g.152139963A>TCA366079964SYNE1c.1979T>A (p.Ile660Asn)
c.25445T>A (p.Ile8482Asn)
c.25301T>A (p.Ile8434Asn)
c.847T>A
c.1180T>A
c.1089T>A
c.1217T>A (p.Ile406Asn)
c.24230T>A (p.Ile8077Asn)
n.2193T>A
c.4280T>A (p.Ile1427Asn)
n.9137T>A
c.3383T>A (p.Ile1128Asn)
n.9029T>A
n.2059T>A
n.4467T>A
n.2282T>A
c.1910T>A (p.Ile637Asn)
c.25550T>A (p.Ile8517Asn)
c.25538T>A (p.Ile8513Asn)
c.25529T>A (p.Ile8510Asn)
c.25499T>A (p.Ile8500Asn)
c.25535T>A (p.Ile8512Asn)
c.25481T>A (p.Ile8494Asn)
c.25478T>A (p.Ile8493Asn)
c.25466T>A (p.Ile8489Asn)
c.25409T>A (p.Ile8470Asn)
c.25397T>A (p.Ile8466Asn)
c.25394T>A (p.Ile8465Asn)
c.25391T>A (p.Ile8464Asn)
c.25547T>A (p.Ile8516Asn)
c.25385T>A (p.Ile8462Asn)
c.23825T>A (p.Ile7942Asn)
c.23318T>A (p.Ile7773Asn)
c.18785T>A (p.Ile6262Asn)
c.2051T>A (p.Ile684Asn)
c.25523T>A (p.Ile8508Asn)
c.25472T>A (p.Ile8491Asn)
c.25325T>A (p.Ile8442Asn)
6g.152139964T>ACA366079967SYNE1c.1978A>T (p.Ile660Phe)
c.25444A>T (p.Ile8482Phe)
c.25300A>T (p.Ile8434Phe)
c.846A>T
c.1179A>T
c.1088A>T
c.1216A>T (p.Ile406Phe)
c.24229A>T (p.Ile8077Phe)
n.2192A>T
c.4279A>T (p.Ile1427Phe)
n.9136A>T
c.3382A>T (p.Ile1128Phe)
n.9028A>T
n.2058A>T
n.4466A>T
n.2281A>T
c.1909A>T (p.Ile637Phe)
c.25549A>T (p.Ile8517Phe)
c.25537A>T (p.Ile8513Phe)
c.25528A>T (p.Ile8510Phe)
c.25498A>T (p.Ile8500Phe)
c.25534A>T (p.Ile8512Phe)
c.25480A>T (p.Ile8494Phe)
c.25477A>T (p.Ile8493Phe)
c.25465A>T (p.Ile8489Phe)
c.25408A>T (p.Ile8470Phe)
c.25396A>T (p.Ile8466Phe)
c.25393A>T (p.Ile8465Phe)
c.25390A>T (p.Ile8464Phe)
c.25546A>T (p.Ile8516Phe)
c.25384A>T (p.Ile8462Phe)
c.23824A>T (p.Ile7942Phe)
c.23317A>T (p.Ile7773Phe)
c.18784A>T (p.Ile6262Phe)
c.2050A>T (p.Ile684Phe)
c.25522A>T (p.Ile8508Phe)
c.25471A>T (p.Ile8491Phe)
c.25324A>T (p.Ile8442Phe)
6g.152139964T>CCA366079971SYNE1c.1978A>G (p.Ile660Val)
c.25444A>G (p.Ile8482Val)
c.25300A>G (p.Ile8434Val)
c.846A>G
c.1179A>G
c.1088A>G
c.1216A>G (p.Ile406Val)
c.24229A>G (p.Ile8077Val)
n.2192A>G
c.4279A>G (p.Ile1427Val)
n.9136A>G
c.3382A>G (p.Ile1128Val)
n.9028A>G
n.2058A>G
n.4466A>G
n.2281A>G
c.1909A>G (p.Ile637Val)
c.25549A>G (p.Ile8517Val)
c.25537A>G (p.Ile8513Val)
c.25528A>G (p.Ile8510Val)
c.25498A>G (p.Ile8500Val)
c.25534A>G (p.Ile8512Val)
c.25480A>G (p.Ile8494Val)
c.25477A>G (p.Ile8493Val)
c.25465A>G (p.Ile8489Val)
c.25408A>G (p.Ile8470Val)
c.25396A>G (p.Ile8466Val)
c.25393A>G (p.Ile8465Val)
c.25390A>G (p.Ile8464Val)
c.25546A>G (p.Ile8516Val)
c.25384A>G (p.Ile8462Val)
c.23824A>G (p.Ile7942Val)
c.23317A>G (p.Ile7773Val)
c.18784A>G (p.Ile6262Val)
c.2050A>G (p.Ile684Val)
c.25522A>G (p.Ile8508Val)
c.25471A>G (p.Ile8491Val)
c.25324A>G (p.Ile8442Val)
 dbSNP gnomAD v2 gnomAD v4
6g.152139964T>GCA366079969SYNE1c.1978A>C (p.Ile660Leu)
c.25444A>C (p.Ile8482Leu)
c.25300A>C (p.Ile8434Leu)
c.846A>C
c.1179A>C
c.1088A>C
c.1216A>C (p.Ile406Leu)
c.24229A>C (p.Ile8077Leu)
n.2192A>C
c.4279A>C (p.Ile1427Leu)
n.9136A>C
c.3382A>C (p.Ile1128Leu)
n.9028A>C
n.2058A>C
n.4466A>C
n.2281A>C
c.1909A>C (p.Ile637Leu)
c.25549A>C (p.Ile8517Leu)
c.25537A>C (p.Ile8513Leu)
c.25528A>C (p.Ile8510Leu)
c.25498A>C (p.Ile8500Leu)
c.25534A>C (p.Ile8512Leu)
c.25480A>C (p.Ile8494Leu)
c.25477A>C (p.Ile8493Leu)
c.25465A>C (p.Ile8489Leu)
c.25408A>C (p.Ile8470Leu)
c.25396A>C (p.Ile8466Leu)
c.25393A>C (p.Ile8465Leu)
c.25390A>C (p.Ile8464Leu)
c.25546A>C (p.Ile8516Leu)
c.25384A>C (p.Ile8462Leu)
c.23824A>C (p.Ile7942Leu)
c.23317A>C (p.Ile7773Leu)
c.18784A>C (p.Ile6262Leu)
c.2050A>C (p.Ile684Leu)
c.25522A>C (p.Ile8508Leu)
c.25471A>C (p.Ile8491Leu)
c.25324A>C (p.Ile8442Leu)
6g.152139964T=CA1673206123SYNE1c.1978A= (p.Ile660=)
c.25444A= (p.Ile8482=)
c.25300A= (p.Ile8434=)
c.846A=
c.1179A=
c.1088A=
c.1216A= (p.Ile406=)
c.24229A= (p.Ile8077=)
n.2192A=
c.4279A= (p.Ile1427=)
n.9136A=
c.3382A= (p.Ile1128=)
n.9028A=
n.2058A=
n.4466A=
n.2281A=
c.1909A= (p.Ile637=)
c.25549A= (p.Ile8517=)
c.25537A= (p.Ile8513=)
c.25528A= (p.Ile8510=)
c.25498A= (p.Ile8500=)
c.25534A= (p.Ile8512=)
c.25480A= (p.Ile8494=)
c.25477A= (p.Ile8493=)
c.25465A= (p.Ile8489=)
c.25408A= (p.Ile8470=)
c.25396A= (p.Ile8466=)
c.25393A= (p.Ile8465=)
c.25390A= (p.Ile8464=)
c.25546A= (p.Ile8516=)
c.25384A= (p.Ile8462=)
c.23824A= (p.Ile7942=)
c.23317A= (p.Ile7773=)
c.18784A= (p.Ile6262=)
c.2050A= (p.Ile684=)
c.25522A= (p.Ile8508=)
c.25471A= (p.Ile8491=)
c.25324A= (p.Ile8442=)
6g.152139965C>ACA366079973SYNE1c.1977G>T (p.Gln659His)
c.25443G>T (p.Gln8481His)
c.25299G>T (p.Gln8433His)
c.845G>T
c.1178G>T
c.1087G>T
c.1215G>T (p.Gln405His)
c.24228G>T (p.Gln8076His)
n.2191G>T
c.4278G>T (p.Gln1426His)
n.9135G>T
c.3381G>T (p.Gln1127His)
n.9027G>T
n.2057G>T
n.4465G>T
n.2280G>T
c.1908G>T (p.Gln636His)
c.25548G>T (p.Gln8516His)
c.25536G>T (p.Gln8512His)
c.25527G>T (p.Gln8509His)
c.25497G>T (p.Gln8499His)
c.25533G>T (p.Gln8511His)
c.25479G>T (p.Gln8493His)
c.25476G>T (p.Gln8492His)
c.25464G>T (p.Gln8488His)
c.25407G>T (p.Gln8469His)
c.25395G>T (p.Gln8465His)
c.25392G>T (p.Gln8464His)
c.25389G>T (p.Gln8463His)
c.25545G>T (p.Gln8515His)
c.25383G>T (p.Gln8461His)
c.23823G>T (p.Gln7941His)
c.23316G>T (p.Gln7772His)
c.18783G>T (p.Gln6261His)
c.2049G>T (p.Gln683His)
c.25521G>T (p.Gln8507His)
c.25470G>T (p.Gln8490His)
c.25323G>T (p.Gln8441His)
 dbSNP gnomAD v3 gnomAD v4
6g.152139965C=CA1673206128SYNE1c.1977G= (p.Gln659=)
c.25443G= (p.Gln8481=)
c.25299G= (p.Gln8433=)
c.845G=
c.1178G=
c.1087G=
c.1215G= (p.Gln405=)
c.24228G= (p.Gln8076=)
n.2191G=
c.4278G= (p.Gln1426=)
n.9135G=
c.3381G= (p.Gln1127=)
n.9027G=
n.2057G=
n.4465G=
n.2280G=
c.1908G= (p.Gln636=)
c.25548G= (p.Gln8516=)
c.25536G= (p.Gln8512=)
c.25527G= (p.Gln8509=)
c.25497G= (p.Gln8499=)
c.25533G= (p.Gln8511=)
c.25479G= (p.Gln8493=)
c.25476G= (p.Gln8492=)
c.25464G= (p.Gln8488=)
c.25407G= (p.Gln8469=)
c.25395G= (p.Gln8465=)
c.25392G= (p.Gln8464=)
c.25389G= (p.Gln8463=)
c.25545G= (p.Gln8515=)
c.25383G= (p.Gln8461=)
c.23823G= (p.Gln7941=)
c.23316G= (p.Gln7772=)
c.18783G= (p.Gln6261=)
c.2049G= (p.Gln683=)
c.25521G= (p.Gln8507=)
c.25470G= (p.Gln8490=)
c.25323G= (p.Gln8441=)
6g.152139965C>GCA10626346SYNE1c.1977G>C (p.Gln659His)
c.25443G>C (p.Gln8481His)
c.25299G>C (p.Gln8433His)
c.845G>C
c.1178G>C
c.1087G>C
c.1215G>C (p.Gln405His)
c.24228G>C (p.Gln8076His)
n.2191G>C
c.4278G>C (p.Gln1426His)
n.9135G>C
c.3381G>C (p.Gln1127His)
n.9027G>C
n.2057G>C
n.4465G>C
n.2280G>C
c.1908G>C (p.Gln636His)
c.25548G>C (p.Gln8516His)
c.25536G>C (p.Gln8512His)
c.25527G>C (p.Gln8509His)
c.25497G>C (p.Gln8499His)
c.25533G>C (p.Gln8511His)
c.25479G>C (p.Gln8493His)
c.25476G>C (p.Gln8492His)
c.25464G>C (p.Gln8488His)
c.25407G>C (p.Gln8469His)
c.25395G>C (p.Gln8465His)
c.25392G>C (p.Gln8464His)
c.25389G>C (p.Gln8463His)
c.25545G>C (p.Gln8515His)
c.25383G>C (p.Gln8461His)
c.23823G>C (p.Gln7941His)
c.23316G>C (p.Gln7772His)
c.18783G>C (p.Gln6261His)
c.2049G>C (p.Gln683His)
c.25521G>C (p.Gln8507His)
c.25470G>C (p.Gln8490His)
c.25323G>C (p.Gln8441His)
 ClinVar dbSNP gnomAD v4
6g.152139965C>TCA452969802SYNE1c.1977G>A (p.Gln659=)
c.25443G>A (p.Gln8481=)
c.25299G>A (p.Gln8433=)
c.845G>A
c.1178G>A
c.1087G>A
c.1215G>A (p.Gln405=)
c.24228G>A (p.Gln8076=)
n.2191G>A
c.4278G>A (p.Gln1426=)
n.9135G>A
c.3381G>A (p.Gln1127=)
n.9027G>A
n.2057G>A
n.4465G>A
n.2280G>A
c.1908G>A (p.Gln636=)
c.25548G>A (p.Gln8516=)
c.25536G>A (p.Gln8512=)
c.25527G>A (p.Gln8509=)
c.25497G>A (p.Gln8499=)
c.25533G>A (p.Gln8511=)
c.25479G>A (p.Gln8493=)
c.25476G>A (p.Gln8492=)
c.25464G>A (p.Gln8488=)
c.25407G>A (p.Gln8469=)
c.25395G>A (p.Gln8465=)
c.25392G>A (p.Gln8464=)
c.25389G>A (p.Gln8463=)
c.25545G>A (p.Gln8515=)
c.25383G>A (p.Gln8461=)
c.23823G>A (p.Gln7941=)
c.23316G>A (p.Gln7772=)
c.18783G>A (p.Gln6261=)
c.2049G>A (p.Gln683=)
c.25521G>A (p.Gln8507=)
c.25470G>A (p.Gln8490=)
c.25323G>A (p.Gln8441=)
6g.152139966T>ACA366079975SYNE1c.1976A>T (p.Gln659Leu)
c.25442A>T (p.Gln8481Leu)
c.25298A>T (p.Gln8433Leu)
c.844A>T
c.1177A>T
c.1086A>T
c.1214A>T (p.Gln405Leu)
c.24227A>T (p.Gln8076Leu)
n.2190A>T
c.4277A>T (p.Gln1426Leu)
n.9134A>T
c.3380A>T (p.Gln1127Leu)
n.9026A>T
n.2056A>T
n.4464A>T
n.2279A>T
c.1907A>T (p.Gln636Leu)
c.25547A>T (p.Gln8516Leu)
c.25535A>T (p.Gln8512Leu)
c.25526A>T (p.Gln8509Leu)
c.25496A>T (p.Gln8499Leu)
c.25532A>T (p.Gln8511Leu)
c.25478A>T (p.Gln8493Leu)
c.25475A>T (p.Gln8492Leu)
c.25463A>T (p.Gln8488Leu)
c.25406A>T (p.Gln8469Leu)
c.25394A>T (p.Gln8465Leu)
c.25391A>T (p.Gln8464Leu)
c.25388A>T (p.Gln8463Leu)
c.25544A>T (p.Gln8515Leu)
c.25382A>T (p.Gln8461Leu)
c.23822A>T (p.Gln7941Leu)
c.23315A>T (p.Gln7772Leu)
c.18782A>T (p.Gln6261Leu)
c.2048A>T (p.Gln683Leu)
c.25520A>T (p.Gln8507Leu)
c.25469A>T (p.Gln8490Leu)
c.25322A>T (p.Gln8441Leu)
6g.152139966T>CCA4052846SYNE1c.1976A>G (p.Gln659Arg)
c.25442A>G (p.Gln8481Arg)
c.25298A>G (p.Gln8433Arg)
c.844A>G
c.1177A>G
c.1086A>G
c.1214A>G (p.Gln405Arg)
c.24227A>G (p.Gln8076Arg)
n.2190A>G
c.4277A>G (p.Gln1426Arg)
n.9134A>G
c.3380A>G (p.Gln1127Arg)
n.9026A>G
n.2056A>G
n.4464A>G
n.2279A>G
c.1907A>G (p.Gln636Arg)
c.25547A>G (p.Gln8516Arg)
c.25535A>G (p.Gln8512Arg)
c.25526A>G (p.Gln8509Arg)
c.25496A>G (p.Gln8499Arg)
c.25532A>G (p.Gln8511Arg)
c.25478A>G (p.Gln8493Arg)
c.25475A>G (p.Gln8492Arg)
c.25463A>G (p.Gln8488Arg)
c.25406A>G (p.Gln8469Arg)
c.25394A>G (p.Gln8465Arg)
c.25391A>G (p.Gln8464Arg)
c.25388A>G (p.Gln8463Arg)
c.25544A>G (p.Gln8515Arg)
c.25382A>G (p.Gln8461Arg)
c.23822A>G (p.Gln7941Arg)
c.23315A>G (p.Gln7772Arg)
c.18782A>G (p.Gln6261Arg)
c.2048A>G (p.Gln683Arg)
c.25520A>G (p.Gln8507Arg)
c.25469A>G (p.Gln8490Arg)
c.25322A>G (p.Gln8441Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139966T>GCA366079978SYNE1c.1976A>C (p.Gln659Pro)
c.25442A>C (p.Gln8481Pro)
c.25298A>C (p.Gln8433Pro)
c.844A>C
c.1177A>C
c.1086A>C
c.1214A>C (p.Gln405Pro)
c.24227A>C (p.Gln8076Pro)
n.2190A>C
c.4277A>C (p.Gln1426Pro)
n.9134A>C
c.3380A>C (p.Gln1127Pro)
n.9026A>C
n.2056A>C
n.4464A>C
n.2279A>C
c.1907A>C (p.Gln636Pro)
c.25547A>C (p.Gln8516Pro)
c.25535A>C (p.Gln8512Pro)
c.25526A>C (p.Gln8509Pro)
c.25496A>C (p.Gln8499Pro)
c.25532A>C (p.Gln8511Pro)
c.25478A>C (p.Gln8493Pro)
c.25475A>C (p.Gln8492Pro)
c.25463A>C (p.Gln8488Pro)
c.25406A>C (p.Gln8469Pro)
c.25394A>C (p.Gln8465Pro)
c.25391A>C (p.Gln8464Pro)
c.25388A>C (p.Gln8463Pro)
c.25544A>C (p.Gln8515Pro)
c.25382A>C (p.Gln8461Pro)
c.23822A>C (p.Gln7941Pro)
c.23315A>C (p.Gln7772Pro)
c.18782A>C (p.Gln6261Pro)
c.2048A>C (p.Gln683Pro)
c.25520A>C (p.Gln8507Pro)
c.25469A>C (p.Gln8490Pro)
c.25322A>C (p.Gln8441Pro)
6g.152139966T=CA1673206134SYNE1c.1976A= (p.Gln659=)
c.25442A= (p.Gln8481=)
c.25298A= (p.Gln8433=)
c.844A=
c.1177A=
c.1086A=
c.1214A= (p.Gln405=)
c.24227A= (p.Gln8076=)
n.2190A=
c.4277A= (p.Gln1426=)
n.9134A=
c.3380A= (p.Gln1127=)
n.9026A=
n.2056A=
n.4464A=
n.2279A=
c.1907A= (p.Gln636=)
c.25547A= (p.Gln8516=)
c.25535A= (p.Gln8512=)
c.25526A= (p.Gln8509=)
c.25496A= (p.Gln8499=)
c.25532A= (p.Gln8511=)
c.25478A= (p.Gln8493=)
c.25475A= (p.Gln8492=)
c.25463A= (p.Gln8488=)
c.25406A= (p.Gln8469=)
c.25394A= (p.Gln8465=)
c.25391A= (p.Gln8464=)
c.25388A= (p.Gln8463=)
c.25544A= (p.Gln8515=)
c.25382A= (p.Gln8461=)
c.23822A= (p.Gln7941=)
c.23315A= (p.Gln7772=)
c.18782A= (p.Gln6261=)
c.2048A= (p.Gln683=)
c.25520A= (p.Gln8507=)
c.25469A= (p.Gln8490=)
c.25322A= (p.Gln8441=)
6g.152139967G>ACA366079979SYNE1c.1975C>T (p.Gln659Ter)
c.25441C>T (p.Gln8481Ter)
c.25297C>T (p.Gln8433Ter)
c.843C>T
c.1176C>T
c.1085C>T
c.1213C>T (p.Gln405Ter)
c.24226C>T (p.Gln8076Ter)
n.2189C>T
c.4276C>T (p.Gln1426Ter)
n.9133C>T
c.3379C>T (p.Gln1127Ter)
n.9025C>T
n.2055C>T
n.4463C>T
n.2278C>T
c.1906C>T (p.Gln636Ter)
c.25546C>T (p.Gln8516Ter)
c.25534C>T (p.Gln8512Ter)
c.25525C>T (p.Gln8509Ter)
c.25495C>T (p.Gln8499Ter)
c.25531C>T (p.Gln8511Ter)
c.25477C>T (p.Gln8493Ter)
c.25474C>T (p.Gln8492Ter)
c.25462C>T (p.Gln8488Ter)
c.25405C>T (p.Gln8469Ter)
c.25393C>T (p.Gln8465Ter)
c.25390C>T (p.Gln8464Ter)
c.25387C>T (p.Gln8463Ter)
c.25543C>T (p.Gln8515Ter)
c.25381C>T (p.Gln8461Ter)
c.23821C>T (p.Gln7941Ter)
c.23314C>T (p.Gln7772Ter)
c.18781C>T (p.Gln6261Ter)
c.2047C>T (p.Gln683Ter)
c.25519C>T (p.Gln8507Ter)
c.25468C>T (p.Gln8490Ter)
c.25321C>T (p.Gln8441Ter)
6g.152139967G>CCA366079981SYNE1c.1975C>G (p.Gln659Glu)
c.25441C>G (p.Gln8481Glu)
c.25297C>G (p.Gln8433Glu)
c.843C>G
c.1176C>G
c.1085C>G
c.1213C>G (p.Gln405Glu)
c.24226C>G (p.Gln8076Glu)
n.2189C>G
c.4276C>G (p.Gln1426Glu)
n.9133C>G
c.3379C>G (p.Gln1127Glu)
n.9025C>G
n.2055C>G
n.4463C>G
n.2278C>G
c.1906C>G (p.Gln636Glu)
c.25546C>G (p.Gln8516Glu)
c.25534C>G (p.Gln8512Glu)
c.25525C>G (p.Gln8509Glu)
c.25495C>G (p.Gln8499Glu)
c.25531C>G (p.Gln8511Glu)
c.25477C>G (p.Gln8493Glu)
c.25474C>G (p.Gln8492Glu)
c.25462C>G (p.Gln8488Glu)
c.25405C>G (p.Gln8469Glu)
c.25393C>G (p.Gln8465Glu)
c.25390C>G (p.Gln8464Glu)
c.25387C>G (p.Gln8463Glu)
c.25543C>G (p.Gln8515Glu)
c.25381C>G (p.Gln8461Glu)
c.23821C>G (p.Gln7941Glu)
c.23314C>G (p.Gln7772Glu)
c.18781C>G (p.Gln6261Glu)
c.2047C>G (p.Gln683Glu)
c.25519C>G (p.Gln8507Glu)
c.25468C>G (p.Gln8490Glu)
c.25321C>G (p.Gln8441Glu)
6g.152139967G>TCA366079983SYNE1c.1975C>A (p.Gln659Lys)
c.25441C>A (p.Gln8481Lys)
c.25297C>A (p.Gln8433Lys)
c.843C>A
c.1176C>A
c.1085C>A
c.1213C>A (p.Gln405Lys)
c.24226C>A (p.Gln8076Lys)
n.2189C>A
c.4276C>A (p.Gln1426Lys)
n.9133C>A
c.3379C>A (p.Gln1127Lys)
n.9025C>A
n.2055C>A
n.4463C>A
n.2278C>A
c.1906C>A (p.Gln636Lys)
c.25546C>A (p.Gln8516Lys)
c.25534C>A (p.Gln8512Lys)
c.25525C>A (p.Gln8509Lys)
c.25495C>A (p.Gln8499Lys)
c.25531C>A (p.Gln8511Lys)
c.25477C>A (p.Gln8493Lys)
c.25474C>A (p.Gln8492Lys)
c.25462C>A (p.Gln8488Lys)
c.25405C>A (p.Gln8469Lys)
c.25393C>A (p.Gln8465Lys)
c.25390C>A (p.Gln8464Lys)
c.25387C>A (p.Gln8463Lys)
c.25543C>A (p.Gln8515Lys)
c.25381C>A (p.Gln8461Lys)
c.23821C>A (p.Gln7941Lys)
c.23314C>A (p.Gln7772Lys)
c.18781C>A (p.Gln6261Lys)
c.2047C>A (p.Gln683Lys)
c.25519C>A (p.Gln8507Lys)
c.25468C>A (p.Gln8490Lys)
c.25321C>A (p.Gln8441Lys)
6g.152139968G>ACA452969803SYNE1c.1974C>T (p.Leu658=)
c.25440C>T (p.Leu8480=)
c.25296C>T (p.Leu8432=)
c.842C>T
c.1175C>T
c.1084C>T
c.1212C>T (p.Leu404=)
c.24225C>T (p.Leu8075=)
n.2188C>T
c.4275C>T (p.Leu1425=)
n.9132C>T
c.3378C>T (p.Leu1126=)
n.9024C>T
n.2054C>T
n.4462C>T
n.2277C>T
c.1905C>T (p.Leu635=)
c.25545C>T (p.Leu8515=)
c.25533C>T (p.Leu8511=)
c.25524C>T (p.Leu8508=)
c.25494C>T (p.Leu8498=)
c.25530C>T (p.Leu8510=)
c.25476C>T (p.Leu8492=)
c.25473C>T (p.Leu8491=)
c.25461C>T (p.Leu8487=)
c.25404C>T (p.Leu8468=)
c.25392C>T (p.Leu8464=)
c.25389C>T (p.Leu8463=)
c.25386C>T (p.Leu8462=)
c.25542C>T (p.Leu8514=)
c.25380C>T (p.Leu8460=)
c.23820C>T (p.Leu7940=)
c.23313C>T (p.Leu7771=)
c.18780C>T (p.Leu6260=)
c.2046C>T (p.Leu682=)
c.25518C>T (p.Leu8506=)
c.25467C>T (p.Leu8489=)
c.25320C>T (p.Leu8440=)
6g.152139968G>CCA452969804SYNE1c.1974C>G (p.Leu658=)
c.25440C>G (p.Leu8480=)
c.25296C>G (p.Leu8432=)
c.842C>G
c.1175C>G
c.1084C>G
c.1212C>G (p.Leu404=)
c.24225C>G (p.Leu8075=)
n.2188C>G
c.4275C>G (p.Leu1425=)
n.9132C>G
c.3378C>G (p.Leu1126=)
n.9024C>G
n.2054C>G
n.4462C>G
n.2277C>G
c.1905C>G (p.Leu635=)
c.25545C>G (p.Leu8515=)
c.25533C>G (p.Leu8511=)
c.25524C>G (p.Leu8508=)
c.25494C>G (p.Leu8498=)
c.25530C>G (p.Leu8510=)
c.25476C>G (p.Leu8492=)
c.25473C>G (p.Leu8491=)
c.25461C>G (p.Leu8487=)
c.25404C>G (p.Leu8468=)
c.25392C>G (p.Leu8464=)
c.25389C>G (p.Leu8463=)
c.25386C>G (p.Leu8462=)
c.25542C>G (p.Leu8514=)
c.25380C>G (p.Leu8460=)
c.23820C>G (p.Leu7940=)
c.23313C>G (p.Leu7771=)
c.18780C>G (p.Leu6260=)
c.2046C>G (p.Leu682=)
c.25518C>G (p.Leu8506=)
c.25467C>G (p.Leu8489=)
c.25320C>G (p.Leu8440=)
 gnomAD v4
6g.152139968G>TCA452969805SYNE1c.1974C>A (p.Leu658=)
c.25440C>A (p.Leu8480=)
c.25296C>A (p.Leu8432=)
c.842C>A
c.1175C>A
c.1084C>A
c.1212C>A (p.Leu404=)
c.24225C>A (p.Leu8075=)
n.2188C>A
c.4275C>A (p.Leu1425=)
n.9132C>A
c.3378C>A (p.Leu1126=)
n.9024C>A
n.2054C>A
n.4462C>A
n.2277C>A
c.1905C>A (p.Leu635=)
c.25545C>A (p.Leu8515=)
c.25533C>A (p.Leu8511=)
c.25524C>A (p.Leu8508=)
c.25494C>A (p.Leu8498=)
c.25530C>A (p.Leu8510=)
c.25476C>A (p.Leu8492=)
c.25473C>A (p.Leu8491=)
c.25461C>A (p.Leu8487=)
c.25404C>A (p.Leu8468=)
c.25392C>A (p.Leu8464=)
c.25389C>A (p.Leu8463=)
c.25386C>A (p.Leu8462=)
c.25542C>A (p.Leu8514=)
c.25380C>A (p.Leu8460=)
c.23820C>A (p.Leu7940=)
c.23313C>A (p.Leu7771=)
c.18780C>A (p.Leu6260=)
c.2046C>A (p.Leu682=)
c.25518C>A (p.Leu8506=)
c.25467C>A (p.Leu8489=)
c.25320C>A (p.Leu8440=)
6g.152139969A>CCA366079985SYNE1c.1973T>G (p.Leu658Arg)
c.25439T>G (p.Leu8480Arg)
c.25295T>G (p.Leu8432Arg)
c.841T>G
c.1174T>G
c.1083T>G
c.1211T>G (p.Leu404Arg)
c.24224T>G (p.Leu8075Arg)
n.2187T>G
c.4274T>G (p.Leu1425Arg)
n.9131T>G
c.3377T>G (p.Leu1126Arg)
n.9023T>G
n.2053T>G
n.4461T>G
n.2276T>G
c.1904T>G (p.Leu635Arg)
c.25544T>G (p.Leu8515Arg)
c.25532T>G (p.Leu8511Arg)
c.25523T>G (p.Leu8508Arg)
c.25493T>G (p.Leu8498Arg)
c.25529T>G (p.Leu8510Arg)
c.25475T>G (p.Leu8492Arg)
c.25472T>G (p.Leu8491Arg)
c.25460T>G (p.Leu8487Arg)
c.25403T>G (p.Leu8468Arg)
c.25391T>G (p.Leu8464Arg)
c.25388T>G (p.Leu8463Arg)
c.25385T>G (p.Leu8462Arg)
c.25541T>G (p.Leu8514Arg)
c.25379T>G (p.Leu8460Arg)
c.23819T>G (p.Leu7940Arg)
c.23312T>G (p.Leu7771Arg)
c.18779T>G (p.Leu6260Arg)
c.2045T>G (p.Leu682Arg)
c.25517T>G (p.Leu8506Arg)
c.25466T>G (p.Leu8489Arg)
c.25319T>G (p.Leu8440Arg)
6g.152139969A>GCA366079986SYNE1c.1973T>C (p.Leu658Pro)
c.25439T>C (p.Leu8480Pro)
c.25295T>C (p.Leu8432Pro)
c.841T>C
c.1174T>C
c.1083T>C
c.1211T>C (p.Leu404Pro)
c.24224T>C (p.Leu8075Pro)
n.2187T>C
c.4274T>C (p.Leu1425Pro)
n.9131T>C
c.3377T>C (p.Leu1126Pro)
n.9023T>C
n.2053T>C
n.4461T>C
n.2276T>C
c.1904T>C (p.Leu635Pro)
c.25544T>C (p.Leu8515Pro)
c.25532T>C (p.Leu8511Pro)
c.25523T>C (p.Leu8508Pro)
c.25493T>C (p.Leu8498Pro)
c.25529T>C (p.Leu8510Pro)
c.25475T>C (p.Leu8492Pro)
c.25472T>C (p.Leu8491Pro)
c.25460T>C (p.Leu8487Pro)
c.25403T>C (p.Leu8468Pro)
c.25391T>C (p.Leu8464Pro)
c.25388T>C (p.Leu8463Pro)
c.25385T>C (p.Leu8462Pro)
c.25541T>C (p.Leu8514Pro)
c.25379T>C (p.Leu8460Pro)
c.23819T>C (p.Leu7940Pro)
c.23312T>C (p.Leu7771Pro)
c.18779T>C (p.Leu6260Pro)
c.2045T>C (p.Leu682Pro)
c.25517T>C (p.Leu8506Pro)
c.25466T>C (p.Leu8489Pro)
c.25319T>C (p.Leu8440Pro)
6g.152139969A>TCA366079988SYNE1c.1973T>A (p.Leu658His)
c.25439T>A (p.Leu8480His)
c.25295T>A (p.Leu8432His)
c.841T>A
c.1174T>A
c.1083T>A
c.1211T>A (p.Leu404His)
c.24224T>A (p.Leu8075His)
n.2187T>A
c.4274T>A (p.Leu1425His)
n.9131T>A
c.3377T>A (p.Leu1126His)
n.9023T>A
n.2053T>A
n.4461T>A
n.2276T>A
c.1904T>A (p.Leu635His)
c.25544T>A (p.Leu8515His)
c.25532T>A (p.Leu8511His)
c.25523T>A (p.Leu8508His)
c.25493T>A (p.Leu8498His)
c.25529T>A (p.Leu8510His)
c.25475T>A (p.Leu8492His)
c.25472T>A (p.Leu8491His)
c.25460T>A (p.Leu8487His)
c.25403T>A (p.Leu8468His)
c.25391T>A (p.Leu8464His)
c.25388T>A (p.Leu8463His)
c.25385T>A (p.Leu8462His)
c.25541T>A (p.Leu8514His)
c.25379T>A (p.Leu8460His)
c.23819T>A (p.Leu7940His)
c.23312T>A (p.Leu7771His)
c.18779T>A (p.Leu6260His)
c.2045T>A (p.Leu682His)
c.25517T>A (p.Leu8506His)
c.25466T>A (p.Leu8489His)
c.25319T>A (p.Leu8440His)
 ClinVar dbSNP gnomAD v4
6g.152139970G>ACA366079990SYNE1c.1972C>T (p.Leu658Phe)
c.25438C>T (p.Leu8480Phe)
c.25294C>T (p.Leu8432Phe)
c.840C>T
c.1173C>T
c.1082C>T
c.1210C>T (p.Leu404Phe)
c.24223C>T (p.Leu8075Phe)
n.2186C>T
c.4273C>T (p.Leu1425Phe)
n.9130C>T
c.3376C>T (p.Leu1126Phe)
n.9022C>T
n.2052C>T
n.4460C>T
n.2275C>T
c.1903C>T (p.Leu635Phe)
c.25543C>T (p.Leu8515Phe)
c.25531C>T (p.Leu8511Phe)
c.25522C>T (p.Leu8508Phe)
c.25492C>T (p.Leu8498Phe)
c.25528C>T (p.Leu8510Phe)
c.25474C>T (p.Leu8492Phe)
c.25471C>T (p.Leu8491Phe)
c.25459C>T (p.Leu8487Phe)
c.25402C>T (p.Leu8468Phe)
c.25390C>T (p.Leu8464Phe)
c.25387C>T (p.Leu8463Phe)
c.25384C>T (p.Leu8462Phe)
c.25540C>T (p.Leu8514Phe)
c.25378C>T (p.Leu8460Phe)
c.23818C>T (p.Leu7940Phe)
c.23311C>T (p.Leu7771Phe)
c.18778C>T (p.Leu6260Phe)
c.2044C>T (p.Leu682Phe)
c.25516C>T (p.Leu8506Phe)
c.25465C>T (p.Leu8489Phe)
c.25318C>T (p.Leu8440Phe)
 gnomAD v4
6g.152139970G>CCA366079992SYNE1c.1972C>G (p.Leu658Val)
c.25438C>G (p.Leu8480Val)
c.25294C>G (p.Leu8432Val)
c.840C>G
c.1173C>G
c.1082C>G
c.1210C>G (p.Leu404Val)
c.24223C>G (p.Leu8075Val)
n.2186C>G
c.4273C>G (p.Leu1425Val)
n.9130C>G
c.3376C>G (p.Leu1126Val)
n.9022C>G
n.2052C>G
n.4460C>G
n.2275C>G
c.1903C>G (p.Leu635Val)
c.25543C>G (p.Leu8515Val)
c.25531C>G (p.Leu8511Val)
c.25522C>G (p.Leu8508Val)
c.25492C>G (p.Leu8498Val)
c.25528C>G (p.Leu8510Val)
c.25474C>G (p.Leu8492Val)
c.25471C>G (p.Leu8491Val)
c.25459C>G (p.Leu8487Val)
c.25402C>G (p.Leu8468Val)
c.25390C>G (p.Leu8464Val)
c.25387C>G (p.Leu8463Val)
c.25384C>G (p.Leu8462Val)
c.25540C>G (p.Leu8514Val)
c.25378C>G (p.Leu8460Val)
c.23818C>G (p.Leu7940Val)
c.23311C>G (p.Leu7771Val)
c.18778C>G (p.Leu6260Val)
c.2044C>G (p.Leu682Val)
c.25516C>G (p.Leu8506Val)
c.25465C>G (p.Leu8489Val)
c.25318C>G (p.Leu8440Val)
6g.152139970G>TCA366079993SYNE1c.1972C>A (p.Leu658Ile)
c.25438C>A (p.Leu8480Ile)
c.25294C>A (p.Leu8432Ile)
c.840C>A
c.1173C>A
c.1082C>A
c.1210C>A (p.Leu404Ile)
c.24223C>A (p.Leu8075Ile)
n.2186C>A
c.4273C>A (p.Leu1425Ile)
n.9130C>A
c.3376C>A (p.Leu1126Ile)
n.9022C>A
n.2052C>A
n.4460C>A
n.2275C>A
c.1903C>A (p.Leu635Ile)
c.25543C>A (p.Leu8515Ile)
c.25531C>A (p.Leu8511Ile)
c.25522C>A (p.Leu8508Ile)
c.25492C>A (p.Leu8498Ile)
c.25528C>A (p.Leu8510Ile)
c.25474C>A (p.Leu8492Ile)
c.25471C>A (p.Leu8491Ile)
c.25459C>A (p.Leu8487Ile)
c.25402C>A (p.Leu8468Ile)
c.25390C>A (p.Leu8464Ile)
c.25387C>A (p.Leu8463Ile)
c.25384C>A (p.Leu8462Ile)
c.25540C>A (p.Leu8514Ile)
c.25378C>A (p.Leu8460Ile)
c.23818C>A (p.Leu7940Ile)
c.23311C>A (p.Leu7771Ile)
c.18778C>A (p.Leu6260Ile)
c.2044C>A (p.Leu682Ile)
c.25516C>A (p.Leu8506Ile)
c.25465C>A (p.Leu8489Ile)
c.25318C>A (p.Leu8440Ile)
6g.152139971C>ACA366079995SYNE1c.1971G>T (p.Glu657Asp)
c.25437G>T (p.Glu8479Asp)
c.25293G>T (p.Glu8431Asp)
c.839G>T
c.1172G>T
c.1081G>T
c.1209G>T (p.Glu403Asp)
c.24222G>T (p.Glu8074Asp)
n.2185G>T
c.4272G>T (p.Glu1424Asp)
n.9129G>T
c.3375G>T (p.Glu1125Asp)
n.9021G>T
n.2051G>T
n.4459G>T
n.2274G>T
c.1902G>T (p.Glu634Asp)
c.25542G>T (p.Glu8514Asp)
c.25530G>T (p.Glu8510Asp)
c.25521G>T (p.Glu8507Asp)
c.25491G>T (p.Glu8497Asp)
c.25527G>T (p.Glu8509Asp)
c.25473G>T (p.Glu8491Asp)
c.25470G>T (p.Glu8490Asp)
c.25458G>T (p.Glu8486Asp)
c.25401G>T (p.Glu8467Asp)
c.25389G>T (p.Glu8463Asp)
c.25386G>T (p.Glu8462Asp)
c.25383G>T (p.Glu8461Asp)
c.25539G>T (p.Glu8513Asp)
c.25377G>T (p.Glu8459Asp)
c.23817G>T (p.Glu7939Asp)
c.23310G>T (p.Glu7770Asp)
c.18777G>T (p.Glu6259Asp)
c.2043G>T (p.Glu681Asp)
c.25515G>T (p.Glu8505Asp)
c.25464G>T (p.Glu8488Asp)
c.25317G>T (p.Glu8439Asp)
6g.152139971C>GCA366079997SYNE1c.1971G>C (p.Glu657Asp)
c.25437G>C (p.Glu8479Asp)
c.25293G>C (p.Glu8431Asp)
c.839G>C
c.1172G>C
c.1081G>C
c.1209G>C (p.Glu403Asp)
c.24222G>C (p.Glu8074Asp)
n.2185G>C
c.4272G>C (p.Glu1424Asp)
n.9129G>C
c.3375G>C (p.Glu1125Asp)
n.9021G>C
n.2051G>C
n.4459G>C
n.2274G>C
c.1902G>C (p.Glu634Asp)
c.25542G>C (p.Glu8514Asp)
c.25530G>C (p.Glu8510Asp)
c.25521G>C (p.Glu8507Asp)
c.25491G>C (p.Glu8497Asp)
c.25527G>C (p.Glu8509Asp)
c.25473G>C (p.Glu8491Asp)
c.25470G>C (p.Glu8490Asp)
c.25458G>C (p.Glu8486Asp)
c.25401G>C (p.Glu8467Asp)
c.25389G>C (p.Glu8463Asp)
c.25386G>C (p.Glu8462Asp)
c.25383G>C (p.Glu8461Asp)
c.25539G>C (p.Glu8513Asp)
c.25377G>C (p.Glu8459Asp)
c.23817G>C (p.Glu7939Asp)
c.23310G>C (p.Glu7770Asp)
c.18777G>C (p.Glu6259Asp)
c.2043G>C (p.Glu681Asp)
c.25515G>C (p.Glu8505Asp)
c.25464G>C (p.Glu8488Asp)
c.25317G>C (p.Glu8439Asp)
 gnomAD v4
6g.152139971C>TCA452969806SYNE1c.1971G>A (p.Glu657=)
c.25437G>A (p.Glu8479=)
c.25293G>A (p.Glu8431=)
c.839G>A
c.1172G>A
c.1081G>A
c.1209G>A (p.Glu403=)
c.24222G>A (p.Glu8074=)
n.2185G>A
c.4272G>A (p.Glu1424=)
n.9129G>A
c.3375G>A (p.Glu1125=)
n.9021G>A
n.2051G>A
n.4459G>A
n.2274G>A
c.1902G>A (p.Glu634=)
c.25542G>A (p.Glu8514=)
c.25530G>A (p.Glu8510=)
c.25521G>A (p.Glu8507=)
c.25491G>A (p.Glu8497=)
c.25527G>A (p.Glu8509=)
c.25473G>A (p.Glu8491=)
c.25470G>A (p.Glu8490=)
c.25458G>A (p.Glu8486=)
c.25401G>A (p.Glu8467=)
c.25389G>A (p.Glu8463=)
c.25386G>A (p.Glu8462=)
c.25383G>A (p.Glu8461=)
c.25539G>A (p.Glu8513=)
c.25377G>A (p.Glu8459=)
c.23817G>A (p.Glu7939=)
c.23310G>A (p.Glu7770=)
c.18777G>A (p.Glu6259=)
c.2043G>A (p.Glu681=)
c.25515G>A (p.Glu8505=)
c.25464G>A (p.Glu8488=)
c.25317G>A (p.Glu8439=)
6g.152139972T>ACA366079998SYNE1c.1970A>T (p.Glu657Val)
c.25436A>T (p.Glu8479Val)
c.25292A>T (p.Glu8431Val)
c.838A>T
c.1171A>T
c.1080A>T
c.1208A>T (p.Glu403Val)
c.24221A>T (p.Glu8074Val)
n.2184A>T
c.4271A>T (p.Glu1424Val)
n.9128A>T
c.3374A>T (p.Glu1125Val)
n.9020A>T
n.2050A>T
n.4458A>T
n.2273A>T
c.1901A>T (p.Glu634Val)
c.25541A>T (p.Glu8514Val)
c.25529A>T (p.Glu8510Val)
c.25520A>T (p.Glu8507Val)
c.25490A>T (p.Glu8497Val)
c.25526A>T (p.Glu8509Val)
c.25472A>T (p.Glu8491Val)
c.25469A>T (p.Glu8490Val)
c.25457A>T (p.Glu8486Val)
c.25400A>T (p.Glu8467Val)
c.25388A>T (p.Glu8463Val)
c.25385A>T (p.Glu8462Val)
c.25382A>T (p.Glu8461Val)
c.25538A>T (p.Glu8513Val)
c.25376A>T (p.Glu8459Val)
c.23816A>T (p.Glu7939Val)
c.23309A>T (p.Glu7770Val)
c.18776A>T (p.Glu6259Val)
c.2042A>T (p.Glu681Val)
c.25514A>T (p.Glu8505Val)
c.25463A>T (p.Glu8488Val)
c.25316A>T (p.Glu8439Val)
6g.152139972T>CCA366080001SYNE1c.1970A>G (p.Glu657Gly)
c.25436A>G (p.Glu8479Gly)
c.25292A>G (p.Glu8431Gly)
c.838A>G
c.1171A>G
c.1080A>G
c.1208A>G (p.Glu403Gly)
c.24221A>G (p.Glu8074Gly)
n.2184A>G
c.4271A>G (p.Glu1424Gly)
n.9128A>G
c.3374A>G (p.Glu1125Gly)
n.9020A>G
n.2050A>G
n.4458A>G
n.2273A>G
c.1901A>G (p.Glu634Gly)
c.25541A>G (p.Glu8514Gly)
c.25529A>G (p.Glu8510Gly)
c.25520A>G (p.Glu8507Gly)
c.25490A>G (p.Glu8497Gly)
c.25526A>G (p.Glu8509Gly)
c.25472A>G (p.Glu8491Gly)
c.25469A>G (p.Glu8490Gly)
c.25457A>G (p.Glu8486Gly)
c.25400A>G (p.Glu8467Gly)
c.25388A>G (p.Glu8463Gly)
c.25385A>G (p.Glu8462Gly)
c.25382A>G (p.Glu8461Gly)
c.25538A>G (p.Glu8513Gly)
c.25376A>G (p.Glu8459Gly)
c.23816A>G (p.Glu7939Gly)
c.23309A>G (p.Glu7770Gly)
c.18776A>G (p.Glu6259Gly)
c.2042A>G (p.Glu681Gly)
c.25514A>G (p.Glu8505Gly)
c.25463A>G (p.Glu8488Gly)
c.25316A>G (p.Glu8439Gly)
6g.152139972T>GCA366080003SYNE1c.1970A>C (p.Glu657Ala)
c.25436A>C (p.Glu8479Ala)
c.25292A>C (p.Glu8431Ala)
c.838A>C
c.1171A>C
c.1080A>C
c.1208A>C (p.Glu403Ala)
c.24221A>C (p.Glu8074Ala)
n.2184A>C
c.4271A>C (p.Glu1424Ala)
n.9128A>C
c.3374A>C (p.Glu1125Ala)
n.9020A>C
n.2050A>C
n.4458A>C
n.2273A>C
c.1901A>C (p.Glu634Ala)
c.25541A>C (p.Glu8514Ala)
c.25529A>C (p.Glu8510Ala)
c.25520A>C (p.Glu8507Ala)
c.25490A>C (p.Glu8497Ala)
c.25526A>C (p.Glu8509Ala)
c.25472A>C (p.Glu8491Ala)
c.25469A>C (p.Glu8490Ala)
c.25457A>C (p.Glu8486Ala)
c.25400A>C (p.Glu8467Ala)
c.25388A>C (p.Glu8463Ala)
c.25385A>C (p.Glu8462Ala)
c.25382A>C (p.Glu8461Ala)
c.25538A>C (p.Glu8513Ala)
c.25376A>C (p.Glu8459Ala)
c.23816A>C (p.Glu7939Ala)
c.23309A>C (p.Glu7770Ala)
c.18776A>C (p.Glu6259Ala)
c.2042A>C (p.Glu681Ala)
c.25514A>C (p.Glu8505Ala)
c.25463A>C (p.Glu8488Ala)
c.25316A>C (p.Glu8439Ala)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139973C>ACA366080004SYNE1c.1969G>T (p.Glu657Ter)
c.25435G>T (p.Glu8479Ter)
c.25291G>T (p.Glu8431Ter)
c.837G>T
c.1170G>T
c.1079G>T
c.1207G>T (p.Glu403Ter)
c.24220G>T (p.Glu8074Ter)
n.2183G>T
c.4270G>T (p.Glu1424Ter)
n.9127G>T
c.3373G>T (p.Glu1125Ter)
n.9019G>T
n.2049G>T
n.4457G>T
n.2272G>T
c.1900G>T (p.Glu634Ter)
c.25540G>T (p.Glu8514Ter)
c.25528G>T (p.Glu8510Ter)
c.25519G>T (p.Glu8507Ter)
c.25489G>T (p.Glu8497Ter)
c.25525G>T (p.Glu8509Ter)
c.25471G>T (p.Glu8491Ter)
c.25468G>T (p.Glu8490Ter)
c.25456G>T (p.Glu8486Ter)
c.25399G>T (p.Glu8467Ter)
c.25387G>T (p.Glu8463Ter)
c.25384G>T (p.Glu8462Ter)
c.25381G>T (p.Glu8461Ter)
c.25537G>T (p.Glu8513Ter)
c.25375G>T (p.Glu8459Ter)
c.23815G>T (p.Glu7939Ter)
c.23308G>T (p.Glu7770Ter)
c.18775G>T (p.Glu6259Ter)
c.2041G>T (p.Glu681Ter)
c.25513G>T (p.Glu8505Ter)
c.25462G>T (p.Glu8488Ter)
c.25315G>T (p.Glu8439Ter)
6g.152139973C=CA1673206141SYNE1c.1969G= (p.Glu657=)
c.25435G= (p.Glu8479=)
c.25291G= (p.Glu8431=)
c.837G=
c.1170G=
c.1079G=
c.1207G= (p.Glu403=)
c.24220G= (p.Glu8074=)
n.2183G=
c.4270G= (p.Glu1424=)
n.9127G=
c.3373G= (p.Glu1125=)
n.9019G=
n.2049G=
n.4457G=
n.2272G=
c.1900G= (p.Glu634=)
c.25540G= (p.Glu8514=)
c.25528G= (p.Glu8510=)
c.25519G= (p.Glu8507=)
c.25489G= (p.Glu8497=)
c.25525G= (p.Glu8509=)
c.25471G= (p.Glu8491=)
c.25468G= (p.Glu8490=)
c.25456G= (p.Glu8486=)
c.25399G= (p.Glu8467=)
c.25387G= (p.Glu8463=)
c.25384G= (p.Glu8462=)
c.25381G= (p.Glu8461=)
c.25537G= (p.Glu8513=)
c.25375G= (p.Glu8459=)
c.23815G= (p.Glu7939=)
c.23308G= (p.Glu7770=)
c.18775G= (p.Glu6259=)
c.2041G= (p.Glu681=)
c.25513G= (p.Glu8505=)
c.25462G= (p.Glu8488=)
c.25315G= (p.Glu8439=)
6g.152139973C>GCA366080006SYNE1c.1969G>C (p.Glu657Gln)
c.25435G>C (p.Glu8479Gln)
c.25291G>C (p.Glu8431Gln)
c.837G>C
c.1170G>C
c.1079G>C
c.1207G>C (p.Glu403Gln)
c.24220G>C (p.Glu8074Gln)
n.2183G>C
c.4270G>C (p.Glu1424Gln)
n.9127G>C
c.3373G>C (p.Glu1125Gln)
n.9019G>C
n.2049G>C
n.4457G>C
n.2272G>C
c.1900G>C (p.Glu634Gln)
c.25540G>C (p.Glu8514Gln)
c.25528G>C (p.Glu8510Gln)
c.25519G>C (p.Glu8507Gln)
c.25489G>C (p.Glu8497Gln)
c.25525G>C (p.Glu8509Gln)
c.25471G>C (p.Glu8491Gln)
c.25468G>C (p.Glu8490Gln)
c.25456G>C (p.Glu8486Gln)
c.25399G>C (p.Glu8467Gln)
c.25387G>C (p.Glu8463Gln)
c.25384G>C (p.Glu8462Gln)
c.25381G>C (p.Glu8461Gln)
c.25537G>C (p.Glu8513Gln)
c.25375G>C (p.Glu8459Gln)
c.23815G>C (p.Glu7939Gln)
c.23308G>C (p.Glu7770Gln)
c.18775G>C (p.Glu6259Gln)
c.2041G>C (p.Glu681Gln)
c.25513G>C (p.Glu8505Gln)
c.25462G>C (p.Glu8488Gln)
c.25315G>C (p.Glu8439Gln)
 dbSNP
6g.152139973C>TCA150165450SYNE1c.1969G>A (p.Glu657Lys)
c.25435G>A (p.Glu8479Lys)
c.25291G>A (p.Glu8431Lys)
c.837G>A
c.1170G>A
c.1079G>A
c.1207G>A (p.Glu403Lys)
c.24220G>A (p.Glu8074Lys)
n.2183G>A
c.4270G>A (p.Glu1424Lys)
n.9127G>A
c.3373G>A (p.Glu1125Lys)
n.9019G>A
n.2049G>A
n.4457G>A
n.2272G>A
c.1900G>A (p.Glu634Lys)
c.25540G>A (p.Glu8514Lys)
c.25528G>A (p.Glu8510Lys)
c.25519G>A (p.Glu8507Lys)
c.25489G>A (p.Glu8497Lys)
c.25525G>A (p.Glu8509Lys)
c.25471G>A (p.Glu8491Lys)
c.25468G>A (p.Glu8490Lys)
c.25456G>A (p.Glu8486Lys)
c.25399G>A (p.Glu8467Lys)
c.25387G>A (p.Glu8463Lys)
c.25384G>A (p.Glu8462Lys)
c.25381G>A (p.Glu8461Lys)
c.25537G>A (p.Glu8513Lys)
c.25375G>A (p.Glu8459Lys)
c.23815G>A (p.Glu7939Lys)
c.23308G>A (p.Glu7770Lys)
c.18775G>A (p.Glu6259Lys)
c.2041G>A (p.Glu681Lys)
c.25513G>A (p.Glu8505Lys)
c.25462G>A (p.Glu8488Lys)
c.25315G>A (p.Glu8439Lys)
 ClinVar dbSNP gnomAD v4
6g.152139974G>ACA4052847SYNE1c.1968C>T (p.Ile656=)
c.25434C>T (p.Ile8478=)
c.25290C>T (p.Ile8430=)
c.836C>T
c.1169C>T
c.1078C>T
c.1206C>T (p.Ile402=)
c.24219C>T (p.Ile8073=)
n.2182C>T
c.4269C>T (p.Ile1423=)
n.9126C>T
c.3372C>T (p.Ile1124=)
n.9018C>T
n.2048C>T
n.4456C>T
n.2271C>T
c.1899C>T (p.Ile633=)
c.25539C>T (p.Ile8513=)
c.25527C>T (p.Ile8509=)
c.25518C>T (p.Ile8506=)
c.25488C>T (p.Ile8496=)
c.25524C>T (p.Ile8508=)
c.25470C>T (p.Ile8490=)
c.25467C>T (p.Ile8489=)
c.25455C>T (p.Ile8485=)
c.25398C>T (p.Ile8466=)
c.25386C>T (p.Ile8462=)
c.25383C>T (p.Ile8461=)
c.25380C>T (p.Ile8460=)
c.25536C>T (p.Ile8512=)
c.25374C>T (p.Ile8458=)
c.23814C>T (p.Ile7938=)
c.23307C>T (p.Ile7769=)
c.18774C>T (p.Ile6258=)
c.2040C>T (p.Ile680=)
c.25512C>T (p.Ile8504=)
c.25461C>T (p.Ile8487=)
c.25314C>T (p.Ile8438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152139974G>CCA366080009SYNE1c.1968C>G (p.Ile656Met)
c.25434C>G (p.Ile8478Met)
c.25290C>G (p.Ile8430Met)
c.836C>G
c.1169C>G
c.1078C>G
c.1206C>G (p.Ile402Met)
c.24219C>G (p.Ile8073Met)
n.2182C>G
c.4269C>G (p.Ile1423Met)
n.9126C>G
c.3372C>G (p.Ile1124Met)
n.9018C>G
n.2048C>G
n.4456C>G
n.2271C>G
c.1899C>G (p.Ile633Met)
c.25539C>G (p.Ile8513Met)
c.25527C>G (p.Ile8509Met)
c.25518C>G (p.Ile8506Met)
c.25488C>G (p.Ile8496Met)
c.25524C>G (p.Ile8508Met)
c.25470C>G (p.Ile8490Met)
c.25467C>G (p.Ile8489Met)
c.25455C>G (p.Ile8485Met)
c.25398C>G (p.Ile8466Met)
c.25386C>G (p.Ile8462Met)
c.25383C>G (p.Ile8461Met)
c.25380C>G (p.Ile8460Met)
c.25536C>G (p.Ile8512Met)
c.25374C>G (p.Ile8458Met)
c.23814C>G (p.Ile7938Met)
c.23307C>G (p.Ile7769Met)
c.18774C>G (p.Ile6258Met)
c.2040C>G (p.Ile680Met)
c.25512C>G (p.Ile8504Met)
c.25461C>G (p.Ile8487Met)
c.25314C>G (p.Ile8438Met)
6g.152139974G=CA1673206148SYNE1c.1968C= (p.Ile656=)
c.25434C= (p.Ile8478=)
c.25290C= (p.Ile8430=)
c.836C=
c.1169C=
c.1078C=
c.1206C= (p.Ile402=)
c.24219C= (p.Ile8073=)
n.2182C=
c.4269C= (p.Ile1423=)
n.9126C=
c.3372C= (p.Ile1124=)
n.9018C=
n.2048C=
n.4456C=
n.2271C=
c.1899C= (p.Ile633=)
c.25539C= (p.Ile8513=)
c.25527C= (p.Ile8509=)
c.25518C= (p.Ile8506=)
c.25488C= (p.Ile8496=)
c.25524C= (p.Ile8508=)
c.25470C= (p.Ile8490=)
c.25467C= (p.Ile8489=)
c.25455C= (p.Ile8485=)
c.25398C= (p.Ile8466=)
c.25386C= (p.Ile8462=)
c.25383C= (p.Ile8461=)
c.25380C= (p.Ile8460=)
c.25536C= (p.Ile8512=)
c.25374C= (p.Ile8458=)
c.23814C= (p.Ile7938=)
c.23307C= (p.Ile7769=)
c.18774C= (p.Ile6258=)
c.2040C= (p.Ile680=)
c.25512C= (p.Ile8504=)
c.25461C= (p.Ile8487=)
c.25314C= (p.Ile8438=)
6g.152139974G>TCA452969807SYNE1c.1968C>A (p.Ile656=)
c.25434C>A (p.Ile8478=)
c.25290C>A (p.Ile8430=)
c.836C>A
c.1169C>A
c.1078C>A
c.1206C>A (p.Ile402=)
c.24219C>A (p.Ile8073=)
n.2182C>A
c.4269C>A (p.Ile1423=)
n.9126C>A
c.3372C>A (p.Ile1124=)
n.9018C>A
n.2048C>A
n.4456C>A
n.2271C>A
c.1899C>A (p.Ile633=)
c.25539C>A (p.Ile8513=)
c.25527C>A (p.Ile8509=)
c.25518C>A (p.Ile8506=)
c.25488C>A (p.Ile8496=)
c.25524C>A (p.Ile8508=)
c.25470C>A (p.Ile8490=)
c.25467C>A (p.Ile8489=)
c.25455C>A (p.Ile8485=)
c.25398C>A (p.Ile8466=)
c.25386C>A (p.Ile8462=)
c.25383C>A (p.Ile8461=)
c.25380C>A (p.Ile8460=)
c.25536C>A (p.Ile8512=)
c.25374C>A (p.Ile8458=)
c.23814C>A (p.Ile7938=)
c.23307C>A (p.Ile7769=)
c.18774C>A (p.Ile6258=)
c.2040C>A (p.Ile680=)
c.25512C>A (p.Ile8504=)
c.25461C>A (p.Ile8487=)
c.25314C>A (p.Ile8438=)
6g.152139975A>CCA366080011SYNE1c.1967T>G (p.Ile656Ser)
c.25433T>G (p.Ile8478Ser)
c.25289T>G (p.Ile8430Ser)
c.835T>G
c.1168T>G
c.1077T>G
c.1205T>G (p.Ile402Ser)
c.24218T>G (p.Ile8073Ser)
n.2181T>G
c.4268T>G (p.Ile1423Ser)
n.9125T>G
c.3371T>G (p.Ile1124Ser)
n.9017T>G
n.2047T>G
n.4455T>G
n.2270T>G
c.1898T>G (p.Ile633Ser)
c.25538T>G (p.Ile8513Ser)
c.25526T>G (p.Ile8509Ser)
c.25517T>G (p.Ile8506Ser)
c.25487T>G (p.Ile8496Ser)
c.25523T>G (p.Ile8508Ser)
c.25469T>G (p.Ile8490Ser)
c.25466T>G (p.Ile8489Ser)
c.25454T>G (p.Ile8485Ser)
c.25397T>G (p.Ile8466Ser)
c.25385T>G (p.Ile8462Ser)
c.25382T>G (p.Ile8461Ser)
c.25379T>G (p.Ile8460Ser)
c.25535T>G (p.Ile8512Ser)
c.25373T>G (p.Ile8458Ser)
c.23813T>G (p.Ile7938Ser)
c.23306T>G (p.Ile7769Ser)
c.18773T>G (p.Ile6258Ser)
c.2039T>G (p.Ile680Ser)
c.25511T>G (p.Ile8504Ser)
c.25460T>G (p.Ile8487Ser)
c.25313T>G (p.Ile8438Ser)
6g.152139975A>GCA366080012SYNE1c.1967T>C (p.Ile656Thr)
c.25433T>C (p.Ile8478Thr)
c.25289T>C (p.Ile8430Thr)
c.835T>C
c.1168T>C
c.1077T>C
c.1205T>C (p.Ile402Thr)
c.24218T>C (p.Ile8073Thr)
n.2181T>C
c.4268T>C (p.Ile1423Thr)
n.9125T>C
c.3371T>C (p.Ile1124Thr)
n.9017T>C
n.2047T>C
n.4455T>C
n.2270T>C
c.1898T>C (p.Ile633Thr)
c.25538T>C (p.Ile8513Thr)
c.25526T>C (p.Ile8509Thr)
c.25517T>C (p.Ile8506Thr)
c.25487T>C (p.Ile8496Thr)
c.25523T>C (p.Ile8508Thr)
c.25469T>C (p.Ile8490Thr)
c.25466T>C (p.Ile8489Thr)
c.25454T>C (p.Ile8485Thr)
c.25397T>C (p.Ile8466Thr)
c.25385T>C (p.Ile8462Thr)
c.25382T>C (p.Ile8461Thr)
c.25379T>C (p.Ile8460Thr)
c.25535T>C (p.Ile8512Thr)
c.25373T>C (p.Ile8458Thr)
c.23813T>C (p.Ile7938Thr)
c.23306T>C (p.Ile7769Thr)
c.18773T>C (p.Ile6258Thr)
c.2039T>C (p.Ile680Thr)
c.25511T>C (p.Ile8504Thr)
c.25460T>C (p.Ile8487Thr)
c.25313T>C (p.Ile8438Thr)
6g.152139975A>TCA366080014SYNE1c.1967T>A (p.Ile656Asn)
c.25433T>A (p.Ile8478Asn)
c.25289T>A (p.Ile8430Asn)
c.835T>A
c.1168T>A
c.1077T>A
c.1205T>A (p.Ile402Asn)
c.24218T>A (p.Ile8073Asn)
n.2181T>A
c.4268T>A (p.Ile1423Asn)
n.9125T>A
c.3371T>A (p.Ile1124Asn)
n.9017T>A
n.2047T>A
n.4455T>A
n.2270T>A
c.1898T>A (p.Ile633Asn)
c.25538T>A (p.Ile8513Asn)
c.25526T>A (p.Ile8509Asn)
c.25517T>A (p.Ile8506Asn)
c.25487T>A (p.Ile8496Asn)
c.25523T>A (p.Ile8508Asn)
c.25469T>A (p.Ile8490Asn)
c.25466T>A (p.Ile8489Asn)
c.25454T>A (p.Ile8485Asn)
c.25397T>A (p.Ile8466Asn)
c.25385T>A (p.Ile8462Asn)
c.25382T>A (p.Ile8461Asn)
c.25379T>A (p.Ile8460Asn)
c.25535T>A (p.Ile8512Asn)
c.25373T>A (p.Ile8458Asn)
c.23813T>A (p.Ile7938Asn)
c.23306T>A (p.Ile7769Asn)
c.18773T>A (p.Ile6258Asn)
c.2039T>A (p.Ile680Asn)
c.25511T>A (p.Ile8504Asn)
c.25460T>A (p.Ile8487Asn)
c.25313T>A (p.Ile8438Asn)
6g.152139976T>ACA366080017SYNE1c.1966A>T (p.Ile656Phe)
c.25432A>T (p.Ile8478Phe)
c.25288A>T (p.Ile8430Phe)
c.834A>T
c.1167A>T
c.1076A>T
c.1204A>T (p.Ile402Phe)
c.24217A>T (p.Ile8073Phe)
n.2180A>T
c.4267A>T (p.Ile1423Phe)
n.9124A>T
c.3370A>T (p.Ile1124Phe)
n.9016A>T
n.2046A>T
n.4454A>T
n.2269A>T
c.1897A>T (p.Ile633Phe)
c.25537A>T (p.Ile8513Phe)
c.25525A>T (p.Ile8509Phe)
c.25516A>T (p.Ile8506Phe)
c.25486A>T (p.Ile8496Phe)
c.25522A>T (p.Ile8508Phe)
c.25468A>T (p.Ile8490Phe)
c.25465A>T (p.Ile8489Phe)
c.25453A>T (p.Ile8485Phe)
c.25396A>T (p.Ile8466Phe)
c.25384A>T (p.Ile8462Phe)
c.25381A>T (p.Ile8461Phe)
c.25378A>T (p.Ile8460Phe)
c.25534A>T (p.Ile8512Phe)
c.25372A>T (p.Ile8458Phe)
c.23812A>T (p.Ile7938Phe)
c.23305A>T (p.Ile7769Phe)
c.18772A>T (p.Ile6258Phe)
c.2038A>T (p.Ile680Phe)
c.25510A>T (p.Ile8504Phe)
c.25459A>T (p.Ile8487Phe)
c.25312A>T (p.Ile8438Phe)
6g.152139976T>CCA366080018SYNE1c.1966A>G (p.Ile656Val)
c.25432A>G (p.Ile8478Val)
c.25288A>G (p.Ile8430Val)
c.834A>G
c.1167A>G
c.1076A>G
c.1204A>G (p.Ile402Val)
c.24217A>G (p.Ile8073Val)
n.2180A>G
c.4267A>G (p.Ile1423Val)
n.9124A>G
c.3370A>G (p.Ile1124Val)
n.9016A>G
n.2046A>G
n.4454A>G
n.2269A>G
c.1897A>G (p.Ile633Val)
c.25537A>G (p.Ile8513Val)
c.25525A>G (p.Ile8509Val)
c.25516A>G (p.Ile8506Val)
c.25486A>G (p.Ile8496Val)
c.25522A>G (p.Ile8508Val)
c.25468A>G (p.Ile8490Val)
c.25465A>G (p.Ile8489Val)
c.25453A>G (p.Ile8485Val)
c.25396A>G (p.Ile8466Val)
c.25384A>G (p.Ile8462Val)
c.25381A>G (p.Ile8461Val)
c.25378A>G (p.Ile8460Val)
c.25534A>G (p.Ile8512Val)
c.25372A>G (p.Ile8458Val)
c.23812A>G (p.Ile7938Val)
c.23305A>G (p.Ile7769Val)
c.18772A>G (p.Ile6258Val)
c.2038A>G (p.Ile680Val)
c.25510A>G (p.Ile8504Val)
c.25459A>G (p.Ile8487Val)
c.25312A>G (p.Ile8438Val)
6g.152139976T>GCA366080015SYNE1c.1966A>C (p.Ile656Leu)
c.25432A>C (p.Ile8478Leu)
c.25288A>C (p.Ile8430Leu)
c.834A>C
c.1167A>C
c.1076A>C
c.1204A>C (p.Ile402Leu)
c.24217A>C (p.Ile8073Leu)
n.2180A>C
c.4267A>C (p.Ile1423Leu)
n.9124A>C
c.3370A>C (p.Ile1124Leu)
n.9016A>C
n.2046A>C
n.4454A>C
n.2269A>C
c.1897A>C (p.Ile633Leu)
c.25537A>C (p.Ile8513Leu)
c.25525A>C (p.Ile8509Leu)
c.25516A>C (p.Ile8506Leu)
c.25486A>C (p.Ile8496Leu)
c.25522A>C (p.Ile8508Leu)
c.25468A>C (p.Ile8490Leu)
c.25465A>C (p.Ile8489Leu)
c.25453A>C (p.Ile8485Leu)
c.25396A>C (p.Ile8466Leu)
c.25384A>C (p.Ile8462Leu)
c.25381A>C (p.Ile8461Leu)
c.25378A>C (p.Ile8460Leu)
c.25534A>C (p.Ile8512Leu)
c.25372A>C (p.Ile8458Leu)
c.23812A>C (p.Ile7938Leu)
c.23305A>C (p.Ile7769Leu)
c.18772A>C (p.Ile6258Leu)
c.2038A>C (p.Ile680Leu)
c.25510A>C (p.Ile8504Leu)
c.25459A>C (p.Ile8487Leu)
c.25312A>C (p.Ile8438Leu)
6g.152139977G>ACA4052848SYNE1c.1965C>T (p.Thr655=)
c.25431C>T (p.Thr8477=)
c.25287C>T (p.Thr8429=)
c.833C>T
c.1166C>T
c.1075C>T
c.1203C>T (p.Thr401=)
c.24216C>T (p.Thr8072=)
n.2179C>T
c.4266C>T (p.Thr1422=)
n.9123C>T
c.3369C>T (p.Thr1123=)
n.9015C>T
n.2045C>T
n.4453C>T
n.2268C>T
c.1896C>T (p.Thr632=)
c.25536C>T (p.Thr8512=)
c.25524C>T (p.Thr8508=)
c.25515C>T (p.Thr8505=)
c.25485C>T (p.Thr8495=)
c.25521C>T (p.Thr8507=)
c.25467C>T (p.Thr8489=)
c.25464C>T (p.Thr8488=)
c.25452C>T (p.Thr8484=)
c.25395C>T (p.Thr8465=)
c.25383C>T (p.Thr8461=)
c.25380C>T (p.Thr8460=)
c.25377C>T (p.Thr8459=)
c.25533C>T (p.Thr8511=)
c.25371C>T (p.Thr8457=)
c.23811C>T (p.Thr7937=)
c.23304C>T (p.Thr7768=)
c.18771C>T (p.Thr6257=)
c.2037C>T (p.Thr679=)
c.25509C>T (p.Thr8503=)
c.25458C>T (p.Thr8486=)
c.25311C>T (p.Thr8437=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152139977G>CCA452969809SYNE1c.1965C>G (p.Thr655=)
c.25431C>G (p.Thr8477=)
c.25287C>G (p.Thr8429=)
c.833C>G
c.1166C>G
c.1075C>G
c.1203C>G (p.Thr401=)
c.24216C>G (p.Thr8072=)
n.2179C>G
c.4266C>G (p.Thr1422=)
n.9123C>G
c.3369C>G (p.Thr1123=)
n.9015C>G
n.2045C>G
n.4453C>G
n.2268C>G
c.1896C>G (p.Thr632=)
c.25536C>G (p.Thr8512=)
c.25524C>G (p.Thr8508=)
c.25515C>G (p.Thr8505=)
c.25485C>G (p.Thr8495=)
c.25521C>G (p.Thr8507=)
c.25467C>G (p.Thr8489=)
c.25464C>G (p.Thr8488=)
c.25452C>G (p.Thr8484=)
c.25395C>G (p.Thr8465=)
c.25383C>G (p.Thr8461=)
c.25380C>G (p.Thr8460=)
c.25377C>G (p.Thr8459=)
c.25533C>G (p.Thr8511=)
c.25371C>G (p.Thr8457=)
c.23811C>G (p.Thr7937=)
c.23304C>G (p.Thr7768=)
c.18771C>G (p.Thr6257=)
c.2037C>G (p.Thr679=)
c.25509C>G (p.Thr8503=)
c.25458C>G (p.Thr8486=)
c.25311C>G (p.Thr8437=)
 gnomAD v4
6g.152139977G=CA1673206152SYNE1c.1965C= (p.Thr655=)
c.25431C= (p.Thr8477=)
c.25287C= (p.Thr8429=)
c.833C=
c.1166C=
c.1075C=
c.1203C= (p.Thr401=)
c.24216C= (p.Thr8072=)
n.2179C=
c.4266C= (p.Thr1422=)
n.9123C=
c.3369C= (p.Thr1123=)
n.9015C=
n.2045C=
n.4453C=
n.2268C=
c.1896C= (p.Thr632=)
c.25536C= (p.Thr8512=)
c.25524C= (p.Thr8508=)
c.25515C= (p.Thr8505=)
c.25485C= (p.Thr8495=)
c.25521C= (p.Thr8507=)
c.25467C= (p.Thr8489=)
c.25464C= (p.Thr8488=)
c.25452C= (p.Thr8484=)
c.25395C= (p.Thr8465=)
c.25383C= (p.Thr8461=)
c.25380C= (p.Thr8460=)
c.25377C= (p.Thr8459=)
c.25533C= (p.Thr8511=)
c.25371C= (p.Thr8457=)
c.23811C= (p.Thr7937=)
c.23304C= (p.Thr7768=)
c.18771C= (p.Thr6257=)
c.2037C= (p.Thr679=)
c.25509C= (p.Thr8503=)
c.25458C= (p.Thr8486=)
c.25311C= (p.Thr8437=)
6g.152139977G>TCA452969808SYNE1c.1965C>A (p.Thr655=)
c.25431C>A (p.Thr8477=)
c.25287C>A (p.Thr8429=)
c.833C>A
c.1166C>A
c.1075C>A
c.1203C>A (p.Thr401=)
c.24216C>A (p.Thr8072=)
n.2179C>A
c.4266C>A (p.Thr1422=)
n.9123C>A
c.3369C>A (p.Thr1123=)
n.9015C>A
n.2045C>A
n.4453C>A
n.2268C>A
c.1896C>A (p.Thr632=)
c.25536C>A (p.Thr8512=)
c.25524C>A (p.Thr8508=)
c.25515C>A (p.Thr8505=)
c.25485C>A (p.Thr8495=)
c.25521C>A (p.Thr8507=)
c.25467C>A (p.Thr8489=)
c.25464C>A (p.Thr8488=)
c.25452C>A (p.Thr8484=)
c.25395C>A (p.Thr8465=)
c.25383C>A (p.Thr8461=)
c.25380C>A (p.Thr8460=)
c.25377C>A (p.Thr8459=)
c.25533C>A (p.Thr8511=)
c.25371C>A (p.Thr8457=)
c.23811C>A (p.Thr7937=)
c.23304C>A (p.Thr7768=)
c.18771C>A (p.Thr6257=)
c.2037C>A (p.Thr679=)
c.25509C>A (p.Thr8503=)
c.25458C>A (p.Thr8486=)
c.25311C>A (p.Thr8437=)
6g.152139978G>ACA366080020SYNE1c.1964C>T (p.Thr655Ile)
c.25430C>T (p.Thr8477Ile)
c.25286C>T (p.Thr8429Ile)
c.832C>T
c.1165C>T
c.1074C>T
c.1202C>T (p.Thr401Ile)
c.24215C>T (p.Thr8072Ile)
n.2178C>T
c.4265C>T (p.Thr1422Ile)
n.9122C>T
c.3368C>T (p.Thr1123Ile)
n.9014C>T
n.2044C>T
n.4452C>T
n.2267C>T
c.1895C>T (p.Thr632Ile)
c.25535C>T (p.Thr8512Ile)
c.25523C>T (p.Thr8508Ile)
c.25514C>T (p.Thr8505Ile)
c.25484C>T (p.Thr8495Ile)
c.25520C>T (p.Thr8507Ile)
c.25466C>T (p.Thr8489Ile)
c.25463C>T (p.Thr8488Ile)
c.25451C>T (p.Thr8484Ile)
c.25394C>T (p.Thr8465Ile)
c.25382C>T (p.Thr8461Ile)
c.25379C>T (p.Thr8460Ile)
c.25376C>T (p.Thr8459Ile)
c.25532C>T (p.Thr8511Ile)
c.25370C>T (p.Thr8457Ile)
c.23810C>T (p.Thr7937Ile)
c.23303C>T (p.Thr7768Ile)
c.18770C>T (p.Thr6257Ile)
c.2036C>T (p.Thr679Ile)
c.25508C>T (p.Thr8503Ile)
c.25457C>T (p.Thr8486Ile)
c.25310C>T (p.Thr8437Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152139978G>CCA366080022SYNE1c.1964C>G (p.Thr655Ser)
c.25430C>G (p.Thr8477Ser)
c.25286C>G (p.Thr8429Ser)
c.832C>G
c.1165C>G
c.1074C>G
c.1202C>G (p.Thr401Ser)
c.24215C>G (p.Thr8072Ser)
n.2178C>G
c.4265C>G (p.Thr1422Ser)
n.9122C>G
c.3368C>G (p.Thr1123Ser)
n.9014C>G
n.2044C>G
n.4452C>G
n.2267C>G
c.1895C>G (p.Thr632Ser)
c.25535C>G (p.Thr8512Ser)
c.25523C>G (p.Thr8508Ser)
c.25514C>G (p.Thr8505Ser)
c.25484C>G (p.Thr8495Ser)
c.25520C>G (p.Thr8507Ser)
c.25466C>G (p.Thr8489Ser)
c.25463C>G (p.Thr8488Ser)
c.25451C>G (p.Thr8484Ser)
c.25394C>G (p.Thr8465Ser)
c.25382C>G (p.Thr8461Ser)
c.25379C>G (p.Thr8460Ser)
c.25376C>G (p.Thr8459Ser)
c.25532C>G (p.Thr8511Ser)
c.25370C>G (p.Thr8457Ser)
c.23810C>G (p.Thr7937Ser)
c.23303C>G (p.Thr7768Ser)
c.18770C>G (p.Thr6257Ser)
c.2036C>G (p.Thr679Ser)
c.25508C>G (p.Thr8503Ser)
c.25457C>G (p.Thr8486Ser)
c.25310C>G (p.Thr8437Ser)
6g.152139978G=CA1673206156SYNE1c.1964C= (p.Thr655=)
c.25430C= (p.Thr8477=)
c.25286C= (p.Thr8429=)
c.832C=
c.1165C=
c.1074C=
c.1202C= (p.Thr401=)
c.24215C= (p.Thr8072=)
n.2178C=
c.4265C= (p.Thr1422=)
n.9122C=
c.3368C= (p.Thr1123=)
n.9014C=
n.2044C=
n.4452C=
n.2267C=
c.1895C= (p.Thr632=)
c.25535C= (p.Thr8512=)
c.25523C= (p.Thr8508=)
c.25514C= (p.Thr8505=)
c.25484C= (p.Thr8495=)
c.25520C= (p.Thr8507=)
c.25466C= (p.Thr8489=)
c.25463C= (p.Thr8488=)
c.25451C= (p.Thr8484=)
c.25394C= (p.Thr8465=)
c.25382C= (p.Thr8461=)
c.25379C= (p.Thr8460=)
c.25376C= (p.Thr8459=)
c.25532C= (p.Thr8511=)
c.25370C= (p.Thr8457=)
c.23810C= (p.Thr7937=)
c.23303C= (p.Thr7768=)
c.18770C= (p.Thr6257=)
c.2036C= (p.Thr679=)
c.25508C= (p.Thr8503=)
c.25457C= (p.Thr8486=)
c.25310C= (p.Thr8437=)
6g.152139978G>TCA366080024SYNE1c.1964C>A (p.Thr655Asn)
c.25430C>A (p.Thr8477Asn)
c.25286C>A (p.Thr8429Asn)
c.832C>A
c.1165C>A
c.1074C>A
c.1202C>A (p.Thr401Asn)
c.24215C>A (p.Thr8072Asn)
n.2178C>A
c.4265C>A (p.Thr1422Asn)
n.9122C>A
c.3368C>A (p.Thr1123Asn)
n.9014C>A
n.2044C>A
n.4452C>A
n.2267C>A
c.1895C>A (p.Thr632Asn)
c.25535C>A (p.Thr8512Asn)
c.25523C>A (p.Thr8508Asn)
c.25514C>A (p.Thr8505Asn)
c.25484C>A (p.Thr8495Asn)
c.25520C>A (p.Thr8507Asn)
c.25466C>A (p.Thr8489Asn)
c.25463C>A (p.Thr8488Asn)
c.25451C>A (p.Thr8484Asn)
c.25394C>A (p.Thr8465Asn)
c.25382C>A (p.Thr8461Asn)
c.25379C>A (p.Thr8460Asn)
c.25376C>A (p.Thr8459Asn)
c.25532C>A (p.Thr8511Asn)
c.25370C>A (p.Thr8457Asn)
c.23810C>A (p.Thr7937Asn)
c.23303C>A (p.Thr7768Asn)
c.18770C>A (p.Thr6257Asn)
c.2036C>A (p.Thr679Asn)
c.25508C>A (p.Thr8503Asn)
c.25457C>A (p.Thr8486Asn)
c.25310C>A (p.Thr8437Asn)
6g.152139979T>ACA366080026SYNE1c.1963A>T (p.Thr655Ser)
c.25429A>T (p.Thr8477Ser)
c.25285A>T (p.Thr8429Ser)
c.831A>T
c.1164A>T
c.1073A>T
c.1201A>T (p.Thr401Ser)
c.24214A>T (p.Thr8072Ser)
n.2177A>T
c.4264A>T (p.Thr1422Ser)
n.9121A>T
c.3367A>T (p.Thr1123Ser)
n.9013A>T
n.2043A>T
n.4451A>T
n.2266A>T
c.1894A>T (p.Thr632Ser)
c.25534A>T (p.Thr8512Ser)
c.25522A>T (p.Thr8508Ser)
c.25513A>T (p.Thr8505Ser)
c.25483A>T (p.Thr8495Ser)
c.25519A>T (p.Thr8507Ser)
c.25465A>T (p.Thr8489Ser)
c.25462A>T (p.Thr8488Ser)
c.25450A>T (p.Thr8484Ser)
c.25393A>T (p.Thr8465Ser)
c.25381A>T (p.Thr8461Ser)
c.25378A>T (p.Thr8460Ser)
c.25375A>T (p.Thr8459Ser)
c.25531A>T (p.Thr8511Ser)
c.25369A>T (p.Thr8457Ser)
c.23809A>T (p.Thr7937Ser)
c.23302A>T (p.Thr7768Ser)
c.18769A>T (p.Thr6257Ser)
c.2035A>T (p.Thr679Ser)
c.25507A>T (p.Thr8503Ser)
c.25456A>T (p.Thr8486Ser)
c.25309A>T (p.Thr8437Ser)
6g.152139979T>CCA366080027SYNE1c.1963A>G (p.Thr655Ala)
c.25429A>G (p.Thr8477Ala)
c.25285A>G (p.Thr8429Ala)
c.831A>G
c.1164A>G
c.1073A>G
c.1201A>G (p.Thr401Ala)
c.24214A>G (p.Thr8072Ala)
n.2177A>G
c.4264A>G (p.Thr1422Ala)
n.9121A>G
c.3367A>G (p.Thr1123Ala)
n.9013A>G
n.2043A>G
n.4451A>G
n.2266A>G
c.1894A>G (p.Thr632Ala)
c.25534A>G (p.Thr8512Ala)
c.25522A>G (p.Thr8508Ala)
c.25513A>G (p.Thr8505Ala)
c.25483A>G (p.Thr8495Ala)
c.25519A>G (p.Thr8507Ala)
c.25465A>G (p.Thr8489Ala)
c.25462A>G (p.Thr8488Ala)
c.25450A>G (p.Thr8484Ala)
c.25393A>G (p.Thr8465Ala)
c.25381A>G (p.Thr8461Ala)
c.25378A>G (p.Thr8460Ala)
c.25375A>G (p.Thr8459Ala)
c.25531A>G (p.Thr8511Ala)
c.25369A>G (p.Thr8457Ala)
c.23809A>G (p.Thr7937Ala)
c.23302A>G (p.Thr7768Ala)
c.18769A>G (p.Thr6257Ala)
c.2035A>G (p.Thr679Ala)
c.25507A>G (p.Thr8503Ala)
c.25456A>G (p.Thr8486Ala)
c.25309A>G (p.Thr8437Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.152139979T>GCA366080029SYNE1c.1963A>C (p.Thr655Pro)
c.25429A>C (p.Thr8477Pro)
c.25285A>C (p.Thr8429Pro)
c.831A>C
c.1164A>C
c.1073A>C
c.1201A>C (p.Thr401Pro)
c.24214A>C (p.Thr8072Pro)
n.2177A>C
c.4264A>C (p.Thr1422Pro)
n.9121A>C
c.3367A>C (p.Thr1123Pro)
n.9013A>C
n.2043A>C
n.4451A>C
n.2266A>C
c.1894A>C (p.Thr632Pro)
c.25534A>C (p.Thr8512Pro)
c.25522A>C (p.Thr8508Pro)
c.25513A>C (p.Thr8505Pro)
c.25483A>C (p.Thr8495Pro)
c.25519A>C (p.Thr8507Pro)
c.25465A>C (p.Thr8489Pro)
c.25462A>C (p.Thr8488Pro)
c.25450A>C (p.Thr8484Pro)
c.25393A>C (p.Thr8465Pro)
c.25381A>C (p.Thr8461Pro)
c.25378A>C (p.Thr8460Pro)
c.25375A>C (p.Thr8459Pro)
c.25531A>C (p.Thr8511Pro)
c.25369A>C (p.Thr8457Pro)
c.23809A>C (p.Thr7937Pro)
c.23302A>C (p.Thr7768Pro)
c.18769A>C (p.Thr6257Pro)
c.2035A>C (p.Thr679Pro)
c.25507A>C (p.Thr8503Pro)
c.25456A>C (p.Thr8486Pro)
c.25309A>C (p.Thr8437Pro)
6g.152139979T=CA1673206159SYNE1c.1963A= (p.Thr655=)
c.25429A= (p.Thr8477=)
c.25285A= (p.Thr8429=)
c.831A=
c.1164A=
c.1073A=
c.1201A= (p.Thr401=)
c.24214A= (p.Thr8072=)
n.2177A=
c.4264A= (p.Thr1422=)
n.9121A=
c.3367A= (p.Thr1123=)
n.9013A=
n.2043A=
n.4451A=
n.2266A=
c.1894A= (p.Thr632=)
c.25534A= (p.Thr8512=)
c.25522A= (p.Thr8508=)
c.25513A= (p.Thr8505=)
c.25483A= (p.Thr8495=)
c.25519A= (p.Thr8507=)
c.25465A= (p.Thr8489=)
c.25462A= (p.Thr8488=)
c.25450A= (p.Thr8484=)
c.25393A= (p.Thr8465=)
c.25381A= (p.Thr8461=)
c.25378A= (p.Thr8460=)
c.25375A= (p.Thr8459=)
c.25531A= (p.Thr8511=)
c.25369A= (p.Thr8457=)
c.23809A= (p.Thr7937=)
c.23302A= (p.Thr7768=)
c.18769A= (p.Thr6257=)
c.2035A= (p.Thr679=)
c.25507A= (p.Thr8503=)
c.25456A= (p.Thr8486=)
c.25309A= (p.Thr8437=)
6g.152139980C>ACA366080030SYNE1c.1962G>T (p.Gln654His)
c.25428G>T (p.Gln8476His)
c.25284G>T (p.Gln8428His)
c.830G>T
c.1163G>T
c.1072G>T
c.1200G>T (p.Gln400His)
c.24213G>T (p.Gln8071His)
n.2176G>T
c.4263G>T (p.Gln1421His)
n.9120G>T
c.3366G>T (p.Gln1122His)
n.9012G>T
n.2042G>T
n.4450G>T
n.2265G>T
c.1893G>T (p.Gln631His)
c.25533G>T (p.Gln8511His)
c.25521G>T (p.Gln8507His)
c.25512G>T (p.Gln8504His)
c.25482G>T (p.Gln8494His)
c.25518G>T (p.Gln8506His)
c.25464G>T (p.Gln8488His)
c.25461G>T (p.Gln8487His)
c.25449G>T (p.Gln8483His)
c.25392G>T (p.Gln8464His)
c.25380G>T (p.Gln8460His)
c.25377G>T (p.Gln8459His)
c.25374G>T (p.Gln8458His)
c.25530G>T (p.Gln8510His)
c.25368G>T (p.Gln8456His)
c.23808G>T (p.Gln7936His)
c.23301G>T (p.Gln7767His)
c.18768G>T (p.Gln6256His)
c.2034G>T (p.Gln678His)
c.25506G>T (p.Gln8502His)
c.25455G>T (p.Gln8485His)
c.25308G>T (p.Gln8436His)
6g.152139980C>GCA366080031SYNE1c.1962G>C (p.Gln654His)
c.25428G>C (p.Gln8476His)
c.25284G>C (p.Gln8428His)
c.830G>C
c.1163G>C
c.1072G>C
c.1200G>C (p.Gln400His)
c.24213G>C (p.Gln8071His)
n.2176G>C
c.4263G>C (p.Gln1421His)
n.9120G>C
c.3366G>C (p.Gln1122His)
n.9012G>C
n.2042G>C
n.4450G>C
n.2265G>C
c.1893G>C (p.Gln631His)
c.25533G>C (p.Gln8511His)
c.25521G>C (p.Gln8507His)
c.25512G>C (p.Gln8504His)
c.25482G>C (p.Gln8494His)
c.25518G>C (p.Gln8506His)
c.25464G>C (p.Gln8488His)
c.25461G>C (p.Gln8487His)
c.25449G>C (p.Gln8483His)
c.25392G>C (p.Gln8464His)
c.25380G>C (p.Gln8460His)
c.25377G>C (p.Gln8459His)
c.25374G>C (p.Gln8458His)
c.25530G>C (p.Gln8510His)
c.25368G>C (p.Gln8456His)
c.23808G>C (p.Gln7936His)
c.23301G>C (p.Gln7767His)
c.18768G>C (p.Gln6256His)
c.2034G>C (p.Gln678His)
c.25506G>C (p.Gln8502His)
c.25455G>C (p.Gln8485His)
c.25308G>C (p.Gln8436His)
6g.152139980C>TCA452969810SYNE1c.1962G>A (p.Gln654=)
c.25428G>A (p.Gln8476=)
c.25284G>A (p.Gln8428=)
c.830G>A
c.1163G>A
c.1072G>A
c.1200G>A (p.Gln400=)
c.24213G>A (p.Gln8071=)
n.2176G>A
c.4263G>A (p.Gln1421=)
n.9120G>A
c.3366G>A (p.Gln1122=)
n.9012G>A
n.2042G>A
n.4450G>A
n.2265G>A
c.1893G>A (p.Gln631=)
c.25533G>A (p.Gln8511=)
c.25521G>A (p.Gln8507=)
c.25512G>A (p.Gln8504=)
c.25482G>A (p.Gln8494=)
c.25518G>A (p.Gln8506=)
c.25464G>A (p.Gln8488=)
c.25461G>A (p.Gln8487=)
c.25449G>A (p.Gln8483=)
c.25392G>A (p.Gln8464=)
c.25380G>A (p.Gln8460=)
c.25377G>A (p.Gln8459=)
c.25374G>A (p.Gln8458=)
c.25530G>A (p.Gln8510=)
c.25368G>A (p.Gln8456=)
c.23808G>A (p.Gln7936=)
c.23301G>A (p.Gln7767=)
c.18768G>A (p.Gln6256=)
c.2034G>A (p.Gln678=)
c.25506G>A (p.Gln8502=)
c.25455G>A (p.Gln8485=)
c.25308G>A (p.Gln8436=)
6g.152139981T>ACA366080032SYNE1c.1961A>T (p.Gln654Leu)
c.25427A>T (p.Gln8476Leu)
c.25283A>T (p.Gln8428Leu)
c.829A>T
c.1162A>T
c.1071A>T
c.1199A>T (p.Gln400Leu)
c.24212A>T (p.Gln8071Leu)
n.2175A>T
c.4262A>T (p.Gln1421Leu)
n.9119A>T
c.3365A>T (p.Gln1122Leu)
n.9011A>T
n.2041A>T
n.4449A>T
n.2264A>T
c.1892A>T (p.Gln631Leu)
c.25532A>T (p.Gln8511Leu)
c.25520A>T (p.Gln8507Leu)
c.25511A>T (p.Gln8504Leu)
c.25481A>T (p.Gln8494Leu)
c.25517A>T (p.Gln8506Leu)
c.25463A>T (p.Gln8488Leu)
c.25460A>T (p.Gln8487Leu)
c.25448A>T (p.Gln8483Leu)
c.25391A>T (p.Gln8464Leu)
c.25379A>T (p.Gln8460Leu)
c.25376A>T (p.Gln8459Leu)
c.25373A>T (p.Gln8458Leu)
c.25529A>T (p.Gln8510Leu)
c.25367A>T (p.Gln8456Leu)
c.23807A>T (p.Gln7936Leu)
c.23300A>T (p.Gln7767Leu)
c.18767A>T (p.Gln6256Leu)
c.2033A>T (p.Gln678Leu)
c.25505A>T (p.Gln8502Leu)
c.25454A>T (p.Gln8485Leu)
c.25307A>T (p.Gln8436Leu)
6g.152139981T>CCA366080033SYNE1c.1961A>G (p.Gln654Arg)
c.25427A>G (p.Gln8476Arg)
c.25283A>G (p.Gln8428Arg)
c.829A>G
c.1162A>G
c.1071A>G
c.1199A>G (p.Gln400Arg)
c.24212A>G (p.Gln8071Arg)
n.2175A>G
c.4262A>G (p.Gln1421Arg)
n.9119A>G
c.3365A>G (p.Gln1122Arg)
n.9011A>G
n.2041A>G
n.4449A>G
n.2264A>G
c.1892A>G (p.Gln631Arg)
c.25532A>G (p.Gln8511Arg)
c.25520A>G (p.Gln8507Arg)
c.25511A>G (p.Gln8504Arg)
c.25481A>G (p.Gln8494Arg)
c.25517A>G (p.Gln8506Arg)
c.25463A>G (p.Gln8488Arg)
c.25460A>G (p.Gln8487Arg)
c.25448A>G (p.Gln8483Arg)
c.25391A>G (p.Gln8464Arg)
c.25379A>G (p.Gln8460Arg)
c.25376A>G (p.Gln8459Arg)
c.25373A>G (p.Gln8458Arg)
c.25529A>G (p.Gln8510Arg)
c.25367A>G (p.Gln8456Arg)
c.23807A>G (p.Gln7936Arg)
c.23300A>G (p.Gln7767Arg)
c.18767A>G (p.Gln6256Arg)
c.2033A>G (p.Gln678Arg)
c.25505A>G (p.Gln8502Arg)
c.25454A>G (p.Gln8485Arg)
c.25307A>G (p.Gln8436Arg)
 gnomAD v4
6g.152139981T>GCA366080035SYNE1c.1961A>C (p.Gln654Pro)
c.25427A>C (p.Gln8476Pro)
c.25283A>C (p.Gln8428Pro)
c.829A>C
c.1162A>C
c.1071A>C
c.1199A>C (p.Gln400Pro)
c.24212A>C (p.Gln8071Pro)
n.2175A>C
c.4262A>C (p.Gln1421Pro)
n.9119A>C
c.3365A>C (p.Gln1122Pro)
n.9011A>C
n.2041A>C
n.4449A>C
n.2264A>C
c.1892A>C (p.Gln631Pro)
c.25532A>C (p.Gln8511Pro)
c.25520A>C (p.Gln8507Pro)
c.25511A>C (p.Gln8504Pro)
c.25481A>C (p.Gln8494Pro)
c.25517A>C (p.Gln8506Pro)
c.25463A>C (p.Gln8488Pro)
c.25460A>C (p.Gln8487Pro)
c.25448A>C (p.Gln8483Pro)
c.25391A>C (p.Gln8464Pro)
c.25379A>C (p.Gln8460Pro)
c.25376A>C (p.Gln8459Pro)
c.25373A>C (p.Gln8458Pro)
c.25529A>C (p.Gln8510Pro)
c.25367A>C (p.Gln8456Pro)
c.23807A>C (p.Gln7936Pro)
c.23300A>C (p.Gln7767Pro)
c.18767A>C (p.Gln6256Pro)
c.2033A>C (p.Gln678Pro)
c.25505A>C (p.Gln8502Pro)
c.25454A>C (p.Gln8485Pro)
c.25307A>C (p.Gln8436Pro)
6g.152139981_152139982delinsTGCA1673206163SYNE1c.1960_1961delinsCA (p.Gln654=)
c.25426_25427delinsCA (p.Gln8476=)
c.25282_25283delinsCA (p.Gln8428=)
c.828_829delinsCA
c.1161_1162delinsCA
c.1070_1071delinsCA
c.1198_1199delinsCA (p.Gln400=)
c.24211_24212delinsCA (p.Gln8071=)
n.2174_2175delinsCA
c.4261_4262delinsCA (p.Gln1421=)
n.9118_9119delinsCA
c.3364_3365delinsCA (p.Gln1122=)
n.9010_9011delinsCA
n.2040_2041delinsCA
n.4448_4449delinsCA
n.2263_2264delinsCA
c.1891_1892delinsCA (p.Gln631=)
c.25531_25532delinsCA (p.Gln8511=)
c.25519_25520delinsCA (p.Gln8507=)
c.25510_25511delinsCA (p.Gln8504=)
c.25480_25481delinsCA (p.Gln8494=)
c.25516_25517delinsCA (p.Gln8506=)
c.25462_25463delinsCA (p.Gln8488=)
c.25459_25460delinsCA (p.Gln8487=)
c.25447_25448delinsCA (p.Gln8483=)
c.25390_25391delinsCA (p.Gln8464=)
c.25378_25379delinsCA (p.Gln8460=)
c.25375_25376delinsCA (p.Gln8459=)
c.25372_25373delinsCA (p.Gln8458=)
c.25528_25529delinsCA (p.Gln8510=)
c.25366_25367delinsCA (p.Gln8456=)
c.23806_23807delinsCA (p.Gln7936=)
c.23299_23300delinsCA (p.Gln7767=)
c.18766_18767delinsCA (p.Gln6256=)
c.2032_2033delinsCA (p.Gln678=)
c.25504_25505delinsCA (p.Gln8502=)
c.25453_25454delinsCA (p.Gln8485=)
c.25306_25307delinsCA (p.Gln8436=)
6g.152139982G>ACA366080039SYNE1c.1960C>T (p.Gln654Ter)
c.25426C>T (p.Gln8476Ter)
c.25282C>T (p.Gln8428Ter)
c.828C>T
c.1161C>T
c.1070C>T
c.1198C>T (p.Gln400Ter)
c.24211C>T (p.Gln8071Ter)
n.2174C>T
c.4261C>T (p.Gln1421Ter)
n.9118C>T
c.3364C>T (p.Gln1122Ter)
n.9010C>T
n.2040C>T
n.4448C>T
n.2263C>T
c.1891C>T (p.Gln631Ter)
c.25531C>T (p.Gln8511Ter)
c.25519C>T (p.Gln8507Ter)
c.25510C>T (p.Gln8504Ter)
c.25480C>T (p.Gln8494Ter)
c.25516C>T (p.Gln8506Ter)
c.25462C>T (p.Gln8488Ter)
c.25459C>T (p.Gln8487Ter)
c.25447C>T (p.Gln8483Ter)
c.25390C>T (p.Gln8464Ter)
c.25378C>T (p.Gln8460Ter)
c.25375C>T (p.Gln8459Ter)
c.25372C>T (p.Gln8458Ter)
c.25528C>T (p.Gln8510Ter)
c.25366C>T (p.Gln8456Ter)
c.23806C>T (p.Gln7936Ter)
c.23299C>T (p.Gln7767Ter)
c.18766C>T (p.Gln6256Ter)
c.2032C>T (p.Gln678Ter)
c.25504C>T (p.Gln8502Ter)
c.25453C>T (p.Gln8485Ter)
c.25306C>T (p.Gln8436Ter)
6g.152139982G>CCA366080037SYNE1c.1960C>G (p.Gln654Glu)
c.25426C>G (p.Gln8476Glu)
c.25282C>G (p.Gln8428Glu)
c.828C>G
c.1161C>G
c.1070C>G
c.1198C>G (p.Gln400Glu)
c.24211C>G (p.Gln8071Glu)
n.2174C>G
c.4261C>G (p.Gln1421Glu)
n.9118C>G
c.3364C>G (p.Gln1122Glu)
n.9010C>G
n.2040C>G
n.4448C>G
n.2263C>G
c.1891C>G (p.Gln631Glu)
c.25531C>G (p.Gln8511Glu)
c.25519C>G (p.Gln8507Glu)
c.25510C>G (p.Gln8504Glu)
c.25480C>G (p.Gln8494Glu)
c.25516C>G (p.Gln8506Glu)
c.25462C>G (p.Gln8488Glu)
c.25459C>G (p.Gln8487Glu)
c.25447C>G (p.Gln8483Glu)
c.25390C>G (p.Gln8464Glu)
c.25378C>G (p.Gln8460Glu)
c.25375C>G (p.Gln8459Glu)
c.25372C>G (p.Gln8458Glu)
c.25528C>G (p.Gln8510Glu)
c.25366C>G (p.Gln8456Glu)
c.23806C>G (p.Gln7936Glu)
c.23299C>G (p.Gln7767Glu)
c.18766C>G (p.Gln6256Glu)
c.2032C>G (p.Gln678Glu)
c.25504C>G (p.Gln8502Glu)
c.25453C>G (p.Gln8485Glu)
c.25306C>G (p.Gln8436Glu)
6g.152139982G>TCA366080038SYNE1c.1960C>A (p.Gln654Lys)
c.25426C>A (p.Gln8476Lys)
c.25282C>A (p.Gln8428Lys)
c.828C>A
c.1161C>A
c.1070C>A
c.1198C>A (p.Gln400Lys)
c.24211C>A (p.Gln8071Lys)
n.2174C>A
c.4261C>A (p.Gln1421Lys)
n.9118C>A
c.3364C>A (p.Gln1122Lys)
n.9010C>A
n.2040C>A
n.4448C>A
n.2263C>A
c.1891C>A (p.Gln631Lys)
c.25531C>A (p.Gln8511Lys)
c.25519C>A (p.Gln8507Lys)
c.25510C>A (p.Gln8504Lys)
c.25480C>A (p.Gln8494Lys)
c.25516C>A (p.Gln8506Lys)
c.25462C>A (p.Gln8488Lys)
c.25459C>A (p.Gln8487Lys)
c.25447C>A (p.Gln8483Lys)
c.25390C>A (p.Gln8464Lys)
c.25378C>A (p.Gln8460Lys)
c.25375C>A (p.Gln8459Lys)
c.25372C>A (p.Gln8458Lys)
c.25528C>A (p.Gln8510Lys)
c.25366C>A (p.Gln8456Lys)
c.23806C>A (p.Gln7936Lys)
c.23299C>A (p.Gln7767Lys)
c.18766C>A (p.Gln6256Lys)
c.2032C>A (p.Gln678Lys)
c.25504C>A (p.Gln8502Lys)
c.25453C>A (p.Gln8485Lys)
c.25306C>A (p.Gln8436Lys)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152139983delCA571437347SYNE1c.1960del (p.Gln654ArgfsTer?)
c.25426del (p.Gln8476ArgfsTer?)
c.25282del (p.Gln8428ArgfsTer?)
c.828del
c.1161del
c.1070del
c.1198del (p.Gln400ArgfsTer?)
c.24211del (p.Gln8071ArgfsTer?)
n.2174del
c.4261del (p.Gln1421ArgfsTer?)
n.9118del
c.3364del (p.Gln1122ArgfsTer?)
n.9010del
n.2040del
n.4448del
n.2263del
c.1891del (p.Gln631ArgfsTer?)
c.25531del (p.Gln8511ArgfsTer?)
c.25519del (p.Gln8507ArgfsTer?)
c.25510del (p.Gln8504ArgfsTer?)
c.25480del (p.Gln8494ArgfsTer?)
c.25516del (p.Gln8506ArgfsTer?)
c.25462del (p.Gln8488ArgfsTer?)
c.25459del (p.Gln8487ArgfsTer?)
c.25447del (p.Gln8483ArgfsTer?)
c.25390del (p.Gln8464ArgfsTer?)
c.25378del (p.Gln8460ArgfsTer?)
c.25375del (p.Gln8459ArgfsTer?)
c.25372del (p.Gln8458ArgfsTer?)
c.25528del (p.Gln8510ArgfsTer?)
c.25366del (p.Gln8456ArgfsTer?)
c.23806del (p.Gln7936ArgfsTer?)
c.23299del (p.Gln7767ArgfsTer?)
c.18766del (p.Gln6256ArgfsTer?)
c.2032del (p.Gln678ArgfsTer?)
c.25504del (p.Gln8502ArgfsTer?)
c.25453del (p.Gln8485ArgfsTer?)
c.25306del (p.Gln8436ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152139983G>ACA452969811SYNE1c.1959C>T (p.Ile653=)
c.25425C>T (p.Ile8475=)
c.25281C>T (p.Ile8427=)
c.827C>T
c.1160C>T
c.1069C>T
c.1197C>T (p.Ile399=)
c.24210C>T (p.Ile8070=)
n.2173C>T
c.4260C>T (p.Ile1420=)
n.9117C>T
c.3363C>T (p.Ile1121=)
n.9009C>T
n.2039C>T
n.4447C>T
n.2262C>T
c.1890C>T (p.Ile630=)
c.25530C>T (p.Ile8510=)
c.25518C>T (p.Ile8506=)
c.25509C>T (p.Ile8503=)
c.25479C>T (p.Ile8493=)
c.25515C>T (p.Ile8505=)
c.25461C>T (p.Ile8487=)
c.25458C>T (p.Ile8486=)
c.25446C>T (p.Ile8482=)
c.25389C>T (p.Ile8463=)
c.25377C>T (p.Ile8459=)
c.25374C>T (p.Ile8458=)
c.25371C>T (p.Ile8457=)
c.25527C>T (p.Ile8509=)
c.25365C>T (p.Ile8455=)
c.23805C>T (p.Ile7935=)
c.23298C>T (p.Ile7766=)
c.18765C>T (p.Ile6255=)
c.2031C>T (p.Ile677=)
c.25503C>T (p.Ile8501=)
c.25452C>T (p.Ile8484=)
c.25305C>T (p.Ile8435=)
 gnomAD v4
6g.152139983G>CCA366080041SYNE1c.1959C>G (p.Ile653Met)
c.25425C>G (p.Ile8475Met)
c.25281C>G (p.Ile8427Met)
c.827C>G
c.1160C>G
c.1069C>G
c.1197C>G (p.Ile399Met)
c.24210C>G (p.Ile8070Met)
n.2173C>G
c.4260C>G (p.Ile1420Met)
n.9117C>G
c.3363C>G (p.Ile1121Met)
n.9009C>G
n.2039C>G
n.4447C>G
n.2262C>G
c.1890C>G (p.Ile630Met)
c.25530C>G (p.Ile8510Met)
c.25518C>G (p.Ile8506Met)
c.25509C>G (p.Ile8503Met)
c.25479C>G (p.Ile8493Met)
c.25515C>G (p.Ile8505Met)
c.25461C>G (p.Ile8487Met)
c.25458C>G (p.Ile8486Met)
c.25446C>G (p.Ile8482Met)
c.25389C>G (p.Ile8463Met)
c.25377C>G (p.Ile8459Met)
c.25374C>G (p.Ile8458Met)
c.25371C>G (p.Ile8457Met)
c.25527C>G (p.Ile8509Met)
c.25365C>G (p.Ile8455Met)
c.23805C>G (p.Ile7935Met)
c.23298C>G (p.Ile7766Met)
c.18765C>G (p.Ile6255Met)
c.2031C>G (p.Ile677Met)
c.25503C>G (p.Ile8501Met)
c.25452C>G (p.Ile8484Met)
c.25305C>G (p.Ile8435Met)
6g.152139983G=CA1673206170SYNE1c.1959C= (p.Ile653=)
c.25425C= (p.Ile8475=)
c.25281C= (p.Ile8427=)
c.827C=
c.1160C=
c.1069C=
c.1197C= (p.Ile399=)
c.24210C= (p.Ile8070=)
n.2173C=
c.4260C= (p.Ile1420=)
n.9117C=
c.3363C= (p.Ile1121=)
n.9009C=
n.2039C=
n.4447C=
n.2262C=
c.1890C= (p.Ile630=)
c.25530C= (p.Ile8510=)
c.25518C= (p.Ile8506=)
c.25509C= (p.Ile8503=)
c.25479C= (p.Ile8493=)
c.25515C= (p.Ile8505=)
c.25461C= (p.Ile8487=)
c.25458C= (p.Ile8486=)
c.25446C= (p.Ile8482=)
c.25389C= (p.Ile8463=)
c.25377C= (p.Ile8459=)
c.25374C= (p.Ile8458=)
c.25371C= (p.Ile8457=)
c.25527C= (p.Ile8509=)
c.25365C= (p.Ile8455=)
c.23805C= (p.Ile7935=)
c.23298C= (p.Ile7766=)
c.18765C= (p.Ile6255=)
c.2031C= (p.Ile677=)
c.25503C= (p.Ile8501=)
c.25452C= (p.Ile8484=)
c.25305C= (p.Ile8435=)
6g.152139983G>TCA452969812SYNE1c.1959C>A (p.Ile653=)
c.25425C>A (p.Ile8475=)
c.25281C>A (p.Ile8427=)
c.827C>A
c.1160C>A
c.1069C>A
c.1197C>A (p.Ile399=)
c.24210C>A (p.Ile8070=)
n.2173C>A
c.4260C>A (p.Ile1420=)
n.9117C>A
c.3363C>A (p.Ile1121=)
n.9009C>A
n.2039C>A
n.4447C>A
n.2262C>A
c.1890C>A (p.Ile630=)
c.25530C>A (p.Ile8510=)
c.25518C>A (p.Ile8506=)
c.25509C>A (p.Ile8503=)
c.25479C>A (p.Ile8493=)
c.25515C>A (p.Ile8505=)
c.25461C>A (p.Ile8487=)
c.25458C>A (p.Ile8486=)
c.25446C>A (p.Ile8482=)
c.25389C>A (p.Ile8463=)
c.25377C>A (p.Ile8459=)
c.25374C>A (p.Ile8458=)
c.25371C>A (p.Ile8457=)
c.25527C>A (p.Ile8509=)
c.25365C>A (p.Ile8455=)
c.23805C>A (p.Ile7935=)
c.23298C>A (p.Ile7766=)
c.18765C>A (p.Ile6255=)
c.2031C>A (p.Ile677=)
c.25503C>A (p.Ile8501=)
c.25452C>A (p.Ile8484=)
c.25305C>A (p.Ile8435=)
 dbSNP gnomAD v2 gnomAD v4
6g.152139984A=CA1673206176SYNE1c.1958T= (p.Ile653=)
c.25424T= (p.Ile8475=)
c.25280T= (p.Ile8427=)
c.826T=
c.1159T=
c.1068T=
c.1196T= (p.Ile399=)
c.24209T= (p.Ile8070=)
n.2172T=
c.4259T= (p.Ile1420=)
n.9116T=
c.3362T= (p.Ile1121=)
n.9008T=
n.2038T=
n.4446T=
n.2261T=
c.1889T= (p.Ile630=)
c.25529T= (p.Ile8510=)
c.25517T= (p.Ile8506=)
c.25508T= (p.Ile8503=)
c.25478T= (p.Ile8493=)
c.25514T= (p.Ile8505=)
c.25460T= (p.Ile8487=)
c.25457T= (p.Ile8486=)
c.25445T= (p.Ile8482=)
c.25388T= (p.Ile8463=)
c.25376T= (p.Ile8459=)
c.25373T= (p.Ile8458=)
c.25370T= (p.Ile8457=)
c.25526T= (p.Ile8509=)
c.25364T= (p.Ile8455=)
c.23804T= (p.Ile7935=)
c.23297T= (p.Ile7766=)
c.18764T= (p.Ile6255=)
c.2030T= (p.Ile677=)
c.25502T= (p.Ile8501=)
c.25451T= (p.Ile8484=)
c.25304T= (p.Ile8435=)
6g.152139984A>CCA366080043SYNE1c.1958T>G (p.Ile653Ser)
c.25424T>G (p.Ile8475Ser)
c.25280T>G (p.Ile8427Ser)
c.826T>G
c.1159T>G
c.1068T>G
c.1196T>G (p.Ile399Ser)
c.24209T>G (p.Ile8070Ser)
n.2172T>G
c.4259T>G (p.Ile1420Ser)
n.9116T>G
c.3362T>G (p.Ile1121Ser)
n.9008T>G
n.2038T>G
n.4446T>G
n.2261T>G
c.1889T>G (p.Ile630Ser)
c.25529T>G (p.Ile8510Ser)
c.25517T>G (p.Ile8506Ser)
c.25508T>G (p.Ile8503Ser)
c.25478T>G (p.Ile8493Ser)
c.25514T>G (p.Ile8505Ser)
c.25460T>G (p.Ile8487Ser)
c.25457T>G (p.Ile8486Ser)
c.25445T>G (p.Ile8482Ser)
c.25388T>G (p.Ile8463Ser)
c.25376T>G (p.Ile8459Ser)
c.25373T>G (p.Ile8458Ser)
c.25370T>G (p.Ile8457Ser)
c.25526T>G (p.Ile8509Ser)
c.25364T>G (p.Ile8455Ser)
c.23804T>G (p.Ile7935Ser)
c.23297T>G (p.Ile7766Ser)
c.18764T>G (p.Ile6255Ser)
c.2030T>G (p.Ile677Ser)
c.25502T>G (p.Ile8501Ser)
c.25451T>G (p.Ile8484Ser)
c.25304T>G (p.Ile8435Ser)
6g.152139984A>GCA4052849SYNE1c.1958T>C (p.Ile653Thr)
c.25424T>C (p.Ile8475Thr)
c.25280T>C (p.Ile8427Thr)
c.826T>C
c.1159T>C
c.1068T>C
c.1196T>C (p.Ile399Thr)
c.24209T>C (p.Ile8070Thr)
n.2172T>C
c.4259T>C (p.Ile1420Thr)
n.9116T>C
c.3362T>C (p.Ile1121Thr)
n.9008T>C
n.2038T>C
n.4446T>C
n.2261T>C
c.1889T>C (p.Ile630Thr)
c.25529T>C (p.Ile8510Thr)
c.25517T>C (p.Ile8506Thr)
c.25508T>C (p.Ile8503Thr)
c.25478T>C (p.Ile8493Thr)
c.25514T>C (p.Ile8505Thr)
c.25460T>C (p.Ile8487Thr)
c.25457T>C (p.Ile8486Thr)
c.25445T>C (p.Ile8482Thr)
c.25388T>C (p.Ile8463Thr)
c.25376T>C (p.Ile8459Thr)
c.25373T>C (p.Ile8458Thr)
c.25370T>C (p.Ile8457Thr)
c.25526T>C (p.Ile8509Thr)
c.25364T>C (p.Ile8455Thr)
c.23804T>C (p.Ile7935Thr)
c.23297T>C (p.Ile7766Thr)
c.18764T>C (p.Ile6255Thr)
c.2030T>C (p.Ile677Thr)
c.25502T>C (p.Ile8501Thr)
c.25451T>C (p.Ile8484Thr)
c.25304T>C (p.Ile8435Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152139984A>TCA366080045SYNE1c.1958T>A (p.Ile653Asn)
c.25424T>A (p.Ile8475Asn)
c.25280T>A (p.Ile8427Asn)
c.826T>A
c.1159T>A
c.1068T>A
c.1196T>A (p.Ile399Asn)
c.24209T>A (p.Ile8070Asn)
n.2172T>A
c.4259T>A (p.Ile1420Asn)
n.9116T>A
c.3362T>A (p.Ile1121Asn)
n.9008T>A
n.2038T>A
n.4446T>A
n.2261T>A
c.1889T>A (p.Ile630Asn)
c.25529T>A (p.Ile8510Asn)
c.25517T>A (p.Ile8506Asn)
c.25508T>A (p.Ile8503Asn)
c.25478T>A (p.Ile8493Asn)
c.25514T>A (p.Ile8505Asn)
c.25460T>A (p.Ile8487Asn)
c.25457T>A (p.Ile8486Asn)
c.25445T>A (p.Ile8482Asn)
c.25388T>A (p.Ile8463Asn)
c.25376T>A (p.Ile8459Asn)
c.25373T>A (p.Ile8458Asn)
c.25370T>A (p.Ile8457Asn)
c.25526T>A (p.Ile8509Asn)
c.25364T>A (p.Ile8455Asn)
c.23804T>A (p.Ile7935Asn)
c.23297T>A (p.Ile7766Asn)
c.18764T>A (p.Ile6255Asn)
c.2030T>A (p.Ile677Asn)
c.25502T>A (p.Ile8501Asn)
c.25451T>A (p.Ile8484Asn)
c.25304T>A (p.Ile8435Asn)
6g.152139985T>ACA366080048SYNE1c.1957A>T (p.Ile653Phe)
c.25423A>T (p.Ile8475Phe)
c.25279A>T (p.Ile8427Phe)
c.825A>T
c.1158A>T
c.1067A>T
c.1195A>T (p.Ile399Phe)
c.24208A>T (p.Ile8070Phe)
n.2171A>T
c.4258A>T (p.Ile1420Phe)
n.9115A>T
c.3361A>T (p.Ile1121Phe)
n.9007A>T
n.2037A>T
n.4445A>T
n.2260A>T
c.1888A>T (p.Ile630Phe)
c.25528A>T (p.Ile8510Phe)
c.25516A>T (p.Ile8506Phe)
c.25507A>T (p.Ile8503Phe)
c.25477A>T (p.Ile8493Phe)
c.25513A>T (p.Ile8505Phe)
c.25459A>T (p.Ile8487Phe)
c.25456A>T (p.Ile8486Phe)
c.25444A>T (p.Ile8482Phe)
c.25387A>T (p.Ile8463Phe)
c.25375A>T (p.Ile8459Phe)
c.25372A>T (p.Ile8458Phe)
c.25369A>T (p.Ile8457Phe)
c.25525A>T (p.Ile8509Phe)
c.25363A>T (p.Ile8455Phe)
c.23803A>T (p.Ile7935Phe)
c.23296A>T (p.Ile7766Phe)
c.18763A>T (p.Ile6255Phe)
c.2029A>T (p.Ile677Phe)
c.25501A>T (p.Ile8501Phe)
c.25450A>T (p.Ile8484Phe)
c.25303A>T (p.Ile8435Phe)
6g.152139985T>CCA366080050SYNE1c.1957A>G (p.Ile653Val)
c.25423A>G (p.Ile8475Val)
c.25279A>G (p.Ile8427Val)
c.825A>G
c.1158A>G
c.1067A>G
c.1195A>G (p.Ile399Val)
c.24208A>G (p.Ile8070Val)
n.2171A>G
c.4258A>G (p.Ile1420Val)
n.9115A>G
c.3361A>G (p.Ile1121Val)
n.9007A>G
n.2037A>G
n.4445A>G
n.2260A>G
c.1888A>G (p.Ile630Val)
c.25528A>G (p.Ile8510Val)
c.25516A>G (p.Ile8506Val)
c.25507A>G (p.Ile8503Val)
c.25477A>G (p.Ile8493Val)
c.25513A>G (p.Ile8505Val)
c.25459A>G (p.Ile8487Val)
c.25456A>G (p.Ile8486Val)
c.25444A>G (p.Ile8482Val)
c.25387A>G (p.Ile8463Val)
c.25375A>G (p.Ile8459Val)
c.25372A>G (p.Ile8458Val)
c.25369A>G (p.Ile8457Val)
c.25525A>G (p.Ile8509Val)
c.25363A>G (p.Ile8455Val)
c.23803A>G (p.Ile7935Val)
c.23296A>G (p.Ile7766Val)
c.18763A>G (p.Ile6255Val)
c.2029A>G (p.Ile677Val)
c.25501A>G (p.Ile8501Val)
c.25450A>G (p.Ile8484Val)
c.25303A>G (p.Ile8435Val)
 dbSNP gnomAD v3 gnomAD v4
6g.152139985T>GCA366080051SYNE1c.1957A>C (p.Ile653Leu)
c.25423A>C (p.Ile8475Leu)
c.25279A>C (p.Ile8427Leu)
c.825A>C
c.1158A>C
c.1067A>C
c.1195A>C (p.Ile399Leu)
c.24208A>C (p.Ile8070Leu)
n.2171A>C
c.4258A>C (p.Ile1420Leu)
n.9115A>C
c.3361A>C (p.Ile1121Leu)
n.9007A>C
n.2037A>C
n.4445A>C
n.2260A>C
c.1888A>C (p.Ile630Leu)
c.25528A>C (p.Ile8510Leu)
c.25516A>C (p.Ile8506Leu)
c.25507A>C (p.Ile8503Leu)
c.25477A>C (p.Ile8493Leu)
c.25513A>C (p.Ile8505Leu)
c.25459A>C (p.Ile8487Leu)
c.25456A>C (p.Ile8486Leu)
c.25444A>C (p.Ile8482Leu)
c.25387A>C (p.Ile8463Leu)
c.25375A>C (p.Ile8459Leu)
c.25372A>C (p.Ile8458Leu)
c.25369A>C (p.Ile8457Leu)
c.25525A>C (p.Ile8509Leu)
c.25363A>C (p.Ile8455Leu)
c.23803A>C (p.Ile7935Leu)
c.23296A>C (p.Ile7766Leu)
c.18763A>C (p.Ile6255Leu)
c.2029A>C (p.Ile677Leu)
c.25501A>C (p.Ile8501Leu)
c.25450A>C (p.Ile8484Leu)
c.25303A>C (p.Ile8435Leu)
6g.152139985T=CA1673206179SYNE1c.1957A= (p.Ile653=)
c.25423A= (p.Ile8475=)
c.25279A= (p.Ile8427=)
c.825A=
c.1158A=
c.1067A=
c.1195A= (p.Ile399=)
c.24208A= (p.Ile8070=)
n.2171A=
c.4258A= (p.Ile1420=)
n.9115A=
c.3361A= (p.Ile1121=)
n.9007A=
n.2037A=
n.4445A=
n.2260A=
c.1888A= (p.Ile630=)
c.25528A= (p.Ile8510=)
c.25516A= (p.Ile8506=)
c.25507A= (p.Ile8503=)
c.25477A= (p.Ile8493=)
c.25513A= (p.Ile8505=)
c.25459A= (p.Ile8487=)
c.25456A= (p.Ile8486=)
c.25444A= (p.Ile8482=)
c.25387A= (p.Ile8463=)
c.25375A= (p.Ile8459=)
c.25372A= (p.Ile8458=)
c.25369A= (p.Ile8457=)
c.25525A= (p.Ile8509=)
c.25363A= (p.Ile8455=)
c.23803A= (p.Ile7935=)
c.23296A= (p.Ile7766=)
c.18763A= (p.Ile6255=)
c.2029A= (p.Ile677=)
c.25501A= (p.Ile8501=)
c.25450A= (p.Ile8484=)
c.25303A= (p.Ile8435=)
6g.152139986G>ACA452969813SYNE1c.1956C>T (p.Asp652=)
c.25422C>T (p.Asp8474=)
c.25278C>T (p.Asp8426=)
c.824C>T
c.1157C>T
c.1066C>T
c.1194C>T (p.Asp398=)
c.24207C>T (p.Asp8069=)
n.2170C>T
c.4257C>T (p.Asp1419=)
n.9114C>T
c.3360C>T (p.Asp1120=)
n.9006C>T
n.2036C>T
n.4444C>T
n.2259C>T
c.1887C>T (p.Asp629=)
c.25527C>T (p.Asp8509=)
c.25515C>T (p.Asp8505=)
c.25506C>T (p.Asp8502=)
c.25476C>T (p.Asp8492=)
c.25512C>T (p.Asp8504=)
c.25458C>T (p.Asp8486=)
c.25455C>T (p.Asp8485=)
c.25443C>T (p.Asp8481=)
c.25386C>T (p.Asp8462=)
c.25374C>T (p.Asp8458=)
c.25371C>T (p.Asp8457=)
c.25368C>T (p.Asp8456=)
c.25524C>T (p.Asp8508=)
c.25362C>T (p.Asp8454=)
c.23802C>T (p.Asp7934=)
c.23295C>T (p.Asp7765=)
c.18762C>T (p.Asp6254=)
c.2028C>T (p.Asp676=)
c.25500C>T (p.Asp8500=)
c.25449C>T (p.Asp8483=)
c.25302C>T (p.Asp8434=)
 gnomAD v4
6g.152139986G>CCA4052850SYNE1c.1956C>G (p.Asp652Glu)
c.25422C>G (p.Asp8474Glu)
c.25278C>G (p.Asp8426Glu)
c.824C>G
c.1157C>G
c.1066C>G
c.1194C>G (p.Asp398Glu)
c.24207C>G (p.Asp8069Glu)
n.2170C>G
c.4257C>G (p.Asp1419Glu)
n.9114C>G
c.3360C>G (p.Asp1120Glu)
n.9006C>G
n.2036C>G
n.4444C>G
n.2259C>G
c.1887C>G (p.Asp629Glu)
c.25527C>G (p.Asp8509Glu)
c.25515C>G (p.Asp8505Glu)
c.25506C>G (p.Asp8502Glu)
c.25476C>G (p.Asp8492Glu)
c.25512C>G (p.Asp8504Glu)
c.25458C>G (p.Asp8486Glu)
c.25455C>G (p.Asp8485Glu)
c.25443C>G (p.Asp8481Glu)
c.25386C>G (p.Asp8462Glu)
c.25374C>G (p.Asp8458Glu)
c.25371C>G (p.Asp8457Glu)
c.25368C>G (p.Asp8456Glu)
c.25524C>G (p.Asp8508Glu)
c.25362C>G (p.Asp8454Glu)
c.23802C>G (p.Asp7934Glu)
c.23295C>G (p.Asp7765Glu)
c.18762C>G (p.Asp6254Glu)
c.2028C>G (p.Asp676Glu)
c.25500C>G (p.Asp8500Glu)
c.25449C>G (p.Asp8483Glu)
c.25302C>G (p.Asp8434Glu)
 dbSNP ExAC gnomAD v2
6g.152139986G=CA1673206182SYNE1c.1956C= (p.Asp652=)
c.25422C= (p.Asp8474=)
c.25278C= (p.Asp8426=)
c.824C=
c.1157C=
c.1066C=
c.1194C= (p.Asp398=)
c.24207C= (p.Asp8069=)
n.2170C=
c.4257C= (p.Asp1419=)
n.9114C=
c.3360C= (p.Asp1120=)
n.9006C=
n.2036C=
n.4444C=
n.2259C=
c.1887C= (p.Asp629=)
c.25527C= (p.Asp8509=)
c.25515C= (p.Asp8505=)
c.25506C= (p.Asp8502=)
c.25476C= (p.Asp8492=)
c.25512C= (p.Asp8504=)
c.25458C= (p.Asp8486=)
c.25455C= (p.Asp8485=)
c.25443C= (p.Asp8481=)
c.25386C= (p.Asp8462=)
c.25374C= (p.Asp8458=)
c.25371C= (p.Asp8457=)
c.25368C= (p.Asp8456=)
c.25524C= (p.Asp8508=)
c.25362C= (p.Asp8454=)
c.23802C= (p.Asp7934=)
c.23295C= (p.Asp7765=)
c.18762C= (p.Asp6254=)
c.2028C= (p.Asp676=)
c.25500C= (p.Asp8500=)
c.25449C= (p.Asp8483=)
c.25302C= (p.Asp8434=)
6g.152139986G>TCA366080054SYNE1c.1956C>A (p.Asp652Glu)
c.25422C>A (p.Asp8474Glu)
c.25278C>A (p.Asp8426Glu)
c.824C>A
c.1157C>A
c.1066C>A
c.1194C>A (p.Asp398Glu)
c.24207C>A (p.Asp8069Glu)
n.2170C>A
c.4257C>A (p.Asp1419Glu)
n.9114C>A
c.3360C>A (p.Asp1120Glu)
n.9006C>A
n.2036C>A
n.4444C>A
n.2259C>A
c.1887C>A (p.Asp629Glu)
c.25527C>A (p.Asp8509Glu)
c.25515C>A (p.Asp8505Glu)
c.25506C>A (p.Asp8502Glu)
c.25476C>A (p.Asp8492Glu)
c.25512C>A (p.Asp8504Glu)
c.25458C>A (p.Asp8486Glu)
c.25455C>A (p.Asp8485Glu)
c.25443C>A (p.Asp8481Glu)
c.25386C>A (p.Asp8462Glu)
c.25374C>A (p.Asp8458Glu)
c.25371C>A (p.Asp8457Glu)
c.25368C>A (p.Asp8456Glu)
c.25524C>A (p.Asp8508Glu)
c.25362C>A (p.Asp8454Glu)
c.23802C>A (p.Asp7934Glu)
c.23295C>A (p.Asp7765Glu)
c.18762C>A (p.Asp6254Glu)
c.2028C>A (p.Asp676Glu)
c.25500C>A (p.Asp8500Glu)
c.25449C>A (p.Asp8483Glu)
c.25302C>A (p.Asp8434Glu)
6g.152139987T>ACA366080056SYNE1c.1955A>T (p.Asp652Val)
c.25421A>T (p.Asp8474Val)
c.25277A>T (p.Asp8426Val)
c.823A>T
c.1156A>T
c.1065A>T
c.1193A>T (p.Asp398Val)
c.24206A>T (p.Asp8069Val)
n.2169A>T
c.4256A>T (p.Asp1419Val)
n.9113A>T
c.3359A>T (p.Asp1120Val)
n.9005A>T
n.2035A>T
n.4443A>T
n.2258A>T
c.1886A>T (p.Asp629Val)
c.25526A>T (p.Asp8509Val)
c.25514A>T (p.Asp8505Val)
c.25505A>T (p.Asp8502Val)
c.25475A>T (p.Asp8492Val)
c.25511A>T (p.Asp8504Val)
c.25457A>T (p.Asp8486Val)
c.25454A>T (p.Asp8485Val)
c.25442A>T (p.Asp8481Val)
c.25385A>T (p.Asp8462Val)
c.25373A>T (p.Asp8458Val)
c.25370A>T (p.Asp8457Val)
c.25367A>T (p.Asp8456Val)
c.25523A>T (p.Asp8508Val)
c.25361A>T (p.Asp8454Val)
c.23801A>T (p.Asp7934Val)
c.23294A>T (p.Asp7765Val)
c.18761A>T (p.Asp6254Val)
c.2027A>T (p.Asp676Val)
c.25499A>T (p.Asp8500Val)
c.25448A>T (p.Asp8483Val)
c.25301A>T (p.Asp8434Val)
 gnomAD v4
6g.152139987T>CCA366080057SYNE1c.1955A>G (p.Asp652Gly)
c.25421A>G (p.Asp8474Gly)
c.25277A>G (p.Asp8426Gly)
c.823A>G
c.1156A>G
c.1065A>G
c.1193A>G (p.Asp398Gly)
c.24206A>G (p.Asp8069Gly)
n.2169A>G
c.4256A>G (p.Asp1419Gly)
n.9113A>G
c.3359A>G (p.Asp1120Gly)
n.9005A>G
n.2035A>G
n.4443A>G
n.2258A>G
c.1886A>G (p.Asp629Gly)
c.25526A>G (p.Asp8509Gly)
c.25514A>G (p.Asp8505Gly)
c.25505A>G (p.Asp8502Gly)
c.25475A>G (p.Asp8492Gly)
c.25511A>G (p.Asp8504Gly)
c.25457A>G (p.Asp8486Gly)
c.25454A>G (p.Asp8485Gly)
c.25442A>G (p.Asp8481Gly)
c.25385A>G (p.Asp8462Gly)
c.25373A>G (p.Asp8458Gly)
c.25370A>G (p.Asp8457Gly)
c.25367A>G (p.Asp8456Gly)
c.25523A>G (p.Asp8508Gly)
c.25361A>G (p.Asp8454Gly)
c.23801A>G (p.Asp7934Gly)
c.23294A>G (p.Asp7765Gly)
c.18761A>G (p.Asp6254Gly)
c.2027A>G (p.Asp676Gly)
c.25499A>G (p.Asp8500Gly)
c.25448A>G (p.Asp8483Gly)
c.25301A>G (p.Asp8434Gly)
6g.152139987T>GCA366080059SYNE1c.1955A>C (p.Asp652Ala)
c.25421A>C (p.Asp8474Ala)
c.25277A>C (p.Asp8426Ala)
c.823A>C
c.1156A>C
c.1065A>C
c.1193A>C (p.Asp398Ala)
c.24206A>C (p.Asp8069Ala)
n.2169A>C
c.4256A>C (p.Asp1419Ala)
n.9113A>C
c.3359A>C (p.Asp1120Ala)
n.9005A>C
n.2035A>C
n.4443A>C
n.2258A>C
c.1886A>C (p.Asp629Ala)
c.25526A>C (p.Asp8509Ala)
c.25514A>C (p.Asp8505Ala)
c.25505A>C (p.Asp8502Ala)
c.25475A>C (p.Asp8492Ala)
c.25511A>C (p.Asp8504Ala)
c.25457A>C (p.Asp8486Ala)
c.25454A>C (p.Asp8485Ala)
c.25442A>C (p.Asp8481Ala)
c.25385A>C (p.Asp8462Ala)
c.25373A>C (p.Asp8458Ala)
c.25370A>C (p.Asp8457Ala)
c.25367A>C (p.Asp8456Ala)
c.25523A>C (p.Asp8508Ala)
c.25361A>C (p.Asp8454Ala)
c.23801A>C (p.Asp7934Ala)
c.23294A>C (p.Asp7765Ala)
c.18761A>C (p.Asp6254Ala)
c.2027A>C (p.Asp676Ala)
c.25499A>C (p.Asp8500Ala)
c.25448A>C (p.Asp8483Ala)
c.25301A>C (p.Asp8434Ala)
6g.152139988C>ACA366080064SYNE1c.1954G>T (p.Asp652Tyr)
c.25420G>T (p.Asp8474Tyr)
c.25276G>T (p.Asp8426Tyr)
c.822G>T
c.1155G>T
c.1064G>T
c.1192G>T (p.Asp398Tyr)
c.24205G>T (p.Asp8069Tyr)
n.2168G>T
c.4255G>T (p.Asp1419Tyr)
n.9112G>T
c.3358G>T (p.Asp1120Tyr)
n.9004G>T
n.2034G>T
n.4442G>T
n.2257G>T
c.1885G>T (p.Asp629Tyr)
c.25525G>T (p.Asp8509Tyr)
c.25513G>T (p.Asp8505Tyr)
c.25504G>T (p.Asp8502Tyr)
c.25474G>T (p.Asp8492Tyr)
c.25510G>T (p.Asp8504Tyr)
c.25456G>T (p.Asp8486Tyr)
c.25453G>T (p.Asp8485Tyr)
c.25441G>T (p.Asp8481Tyr)
c.25384G>T (p.Asp8462Tyr)
c.25372G>T (p.Asp8458Tyr)
c.25369G>T (p.Asp8457Tyr)
c.25366G>T (p.Asp8456Tyr)
c.25522G>T (p.Asp8508Tyr)
c.25360G>T (p.Asp8454Tyr)
c.23800G>T (p.Asp7934Tyr)
c.23293G>T (p.Asp7765Tyr)
c.18760G>T (p.Asp6254Tyr)
c.2026G>T (p.Asp676Tyr)
c.25498G>T (p.Asp8500Tyr)
c.25447G>T (p.Asp8483Tyr)
c.25300G>T (p.Asp8434Tyr)
 gnomAD v4
6g.152139988C>GCA366080063SYNE1c.1954G>C (p.Asp652His)
c.25420G>C (p.Asp8474His)
c.25276G>C (p.Asp8426His)
c.822G>C
c.1155G>C
c.1064G>C
c.1192G>C (p.Asp398His)
c.24205G>C (p.Asp8069His)
n.2168G>C
c.4255G>C (p.Asp1419His)
n.9112G>C
c.3358G>C (p.Asp1120His)
n.9004G>C
n.2034G>C
n.4442G>C
n.2257G>C
c.1885G>C (p.Asp629His)
c.25525G>C (p.Asp8509His)
c.25513G>C (p.Asp8505His)
c.25504G>C (p.Asp8502His)
c.25474G>C (p.Asp8492His)
c.25510G>C (p.Asp8504His)
c.25456G>C (p.Asp8486His)
c.25453G>C (p.Asp8485His)
c.25441G>C (p.Asp8481His)
c.25384G>C (p.Asp8462His)
c.25372G>C (p.Asp8458His)
c.25369G>C (p.Asp8457His)
c.25366G>C (p.Asp8456His)
c.25522G>C (p.Asp8508His)
c.25360G>C (p.Asp8454His)
c.23800G>C (p.Asp7934His)
c.23293G>C (p.Asp7765His)
c.18760G>C (p.Asp6254His)
c.2026G>C (p.Asp676His)
c.25498G>C (p.Asp8500His)
c.25447G>C (p.Asp8483His)
c.25300G>C (p.Asp8434His)
6g.152139988C>TCA366080061SYNE1c.1954G>A (p.Asp652Asn)
c.25420G>A (p.Asp8474Asn)
c.25276G>A (p.Asp8426Asn)
c.822G>A
c.1155G>A
c.1064G>A
c.1192G>A (p.Asp398Asn)
c.24205G>A (p.Asp8069Asn)
n.2168G>A
c.4255G>A (p.Asp1419Asn)
n.9112G>A
c.3358G>A (p.Asp1120Asn)
n.9004G>A
n.2034G>A
n.4442G>A
n.2257G>A
c.1885G>A (p.Asp629Asn)
c.25525G>A (p.Asp8509Asn)
c.25513G>A (p.Asp8505Asn)
c.25504G>A (p.Asp8502Asn)
c.25474G>A (p.Asp8492Asn)
c.25510G>A (p.Asp8504Asn)
c.25456G>A (p.Asp8486Asn)
c.25453G>A (p.Asp8485Asn)
c.25441G>A (p.Asp8481Asn)
c.25384G>A (p.Asp8462Asn)
c.25372G>A (p.Asp8458Asn)
c.25369G>A (p.Asp8457Asn)
c.25366G>A (p.Asp8456Asn)
c.25522G>A (p.Asp8508Asn)
c.25360G>A (p.Asp8454Asn)
c.23800G>A (p.Asp7934Asn)
c.23293G>A (p.Asp7765Asn)
c.18760G>A (p.Asp6254Asn)
c.2026G>A (p.Asp676Asn)
c.25498G>A (p.Asp8500Asn)
c.25447G>A (p.Asp8483Asn)
c.25300G>A (p.Asp8434Asn)
6g.152139989A>CCA452969814SYNE1c.1953T>G (p.Thr651=)
c.25419T>G (p.Thr8473=)
c.25275T>G (p.Thr8425=)
c.821T>G
c.1154T>G
c.1063T>G
c.1191T>G (p.Thr397=)
c.24204T>G (p.Thr8068=)
n.2167T>G
c.4254T>G (p.Thr1418=)
n.9111T>G
c.3357T>G (p.Thr1119=)
n.9003T>G
n.2033T>G
n.4441T>G
n.2256T>G
c.1884T>G (p.Thr628=)
c.25524T>G (p.Thr8508=)
c.25512T>G (p.Thr8504=)
c.25503T>G (p.Thr8501=)
c.25473T>G (p.Thr8491=)
c.25509T>G (p.Thr8503=)
c.25455T>G (p.Thr8485=)
c.25452T>G (p.Thr8484=)
c.25440T>G (p.Thr8480=)
c.25383T>G (p.Thr8461=)
c.25371T>G (p.Thr8457=)
c.25368T>G (p.Thr8456=)
c.25365T>G (p.Thr8455=)
c.25521T>G (p.Thr8507=)
c.25359T>G (p.Thr8453=)
c.23799T>G (p.Thr7933=)
c.23292T>G (p.Thr7764=)
c.18759T>G (p.Thr6253=)
c.2025T>G (p.Thr675=)
c.25497T>G (p.Thr8499=)
c.25446T>G (p.Thr8482=)
c.25299T>G (p.Thr8433=)
6g.152139989A>GCA452969815SYNE1c.1953T>C (p.Thr651=)
c.25419T>C (p.Thr8473=)
c.25275T>C (p.Thr8425=)
c.821T>C
c.1154T>C
c.1063T>C
c.1191T>C (p.Thr397=)
c.24204T>C (p.Thr8068=)
n.2167T>C
c.4254T>C (p.Thr1418=)
n.9111T>C
c.3357T>C (p.Thr1119=)
n.9003T>C
n.2033T>C
n.4441T>C
n.2256T>C
c.1884T>C (p.Thr628=)
c.25524T>C (p.Thr8508=)
c.25512T>C (p.Thr8504=)
c.25503T>C (p.Thr8501=)
c.25473T>C (p.Thr8491=)
c.25509T>C (p.Thr8503=)
c.25455T>C (p.Thr8485=)
c.25452T>C (p.Thr8484=)
c.25440T>C (p.Thr8480=)
c.25383T>C (p.Thr8461=)
c.25371T>C (p.Thr8457=)
c.25368T>C (p.Thr8456=)
c.25365T>C (p.Thr8455=)
c.25521T>C (p.Thr8507=)
c.25359T>C (p.Thr8453=)
c.23799T>C (p.Thr7933=)
c.23292T>C (p.Thr7764=)
c.18759T>C (p.Thr6253=)
c.2025T>C (p.Thr675=)
c.25497T>C (p.Thr8499=)
c.25446T>C (p.Thr8482=)
c.25299T>C (p.Thr8433=)
6g.152139989A>TCA452969816SYNE1c.1953T>A (p.Thr651=)
c.25419T>A (p.Thr8473=)
c.25275T>A (p.Thr8425=)
c.821T>A
c.1154T>A
c.1063T>A
c.1191T>A (p.Thr397=)
c.24204T>A (p.Thr8068=)
n.2167T>A
c.4254T>A (p.Thr1418=)
n.9111T>A
c.3357T>A (p.Thr1119=)
n.9003T>A
n.2033T>A
n.4441T>A
n.2256T>A
c.1884T>A (p.Thr628=)
c.25524T>A (p.Thr8508=)
c.25512T>A (p.Thr8504=)
c.25503T>A (p.Thr8501=)
c.25473T>A (p.Thr8491=)
c.25509T>A (p.Thr8503=)
c.25455T>A (p.Thr8485=)
c.25452T>A (p.Thr8484=)
c.25440T>A (p.Thr8480=)
c.25383T>A (p.Thr8461=)
c.25371T>A (p.Thr8457=)
c.25368T>A (p.Thr8456=)
c.25365T>A (p.Thr8455=)
c.25521T>A (p.Thr8507=)
c.25359T>A (p.Thr8453=)
c.23799T>A (p.Thr7933=)
c.23292T>A (p.Thr7764=)
c.18759T>A (p.Thr6253=)
c.2025T>A (p.Thr675=)
c.25497T>A (p.Thr8499=)
c.25446T>A (p.Thr8482=)
c.25299T>A (p.Thr8433=)
6g.152139990G>ACA150165509SYNE1c.1952C>T (p.Thr651Ile)
c.25418C>T (p.Thr8473Ile)
c.25274C>T (p.Thr8425Ile)
c.820C>T
c.1153C>T
c.1062C>T
c.1190C>T (p.Thr397Ile)
c.24203C>T (p.Thr8068Ile)
n.2166C>T
c.4253C>T (p.Thr1418Ile)
n.9110C>T
c.3356C>T (p.Thr1119Ile)
n.9002C>T
n.2032C>T
n.4440C>T
n.2255C>T
c.1883C>T (p.Thr628Ile)
c.25523C>T (p.Thr8508Ile)
c.25511C>T (p.Thr8504Ile)
c.25502C>T (p.Thr8501Ile)
c.25472C>T (p.Thr8491Ile)
c.25508C>T (p.Thr8503Ile)
c.25454C>T (p.Thr8485Ile)
c.25451C>T (p.Thr8484Ile)
c.25439C>T (p.Thr8480Ile)
c.25382C>T (p.Thr8461Ile)
c.25370C>T (p.Thr8457Ile)
c.25367C>T (p.Thr8456Ile)
c.25364C>T (p.Thr8455Ile)
c.25520C>T (p.Thr8507Ile)
c.25358C>T (p.Thr8453Ile)
c.23798C>T (p.Thr7933Ile)
c.23291C>T (p.Thr7764Ile)
c.18758C>T (p.Thr6253Ile)
c.2024C>T (p.Thr675Ile)
c.25496C>T (p.Thr8499Ile)
c.25445C>T (p.Thr8482Ile)
c.25298C>T (p.Thr8433Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.152139990G>CCA366080069SYNE1c.1952C>G (p.Thr651Ser)
c.25418C>G (p.Thr8473Ser)
c.25274C>G (p.Thr8425Ser)
c.820C>G
c.1153C>G
c.1062C>G
c.1190C>G (p.Thr397Ser)
c.24203C>G (p.Thr8068Ser)
n.2166C>G
c.4253C>G (p.Thr1418Ser)
n.9110C>G
c.3356C>G (p.Thr1119Ser)
n.9002C>G
n.2032C>G
n.4440C>G
n.2255C>G
c.1883C>G (p.Thr628Ser)
c.25523C>G (p.Thr8508Ser)
c.25511C>G (p.Thr8504Ser)
c.25502C>G (p.Thr8501Ser)
c.25472C>G (p.Thr8491Ser)
c.25508C>G (p.Thr8503Ser)
c.25454C>G (p.Thr8485Ser)
c.25451C>G (p.Thr8484Ser)
c.25439C>G (p.Thr8480Ser)
c.25382C>G (p.Thr8461Ser)
c.25370C>G (p.Thr8457Ser)
c.25367C>G (p.Thr8456Ser)
c.25364C>G (p.Thr8455Ser)
c.25520C>G (p.Thr8507Ser)
c.25358C>G (p.Thr8453Ser)
c.23798C>G (p.Thr7933Ser)
c.23291C>G (p.Thr7764Ser)
c.18758C>G (p.Thr6253Ser)
c.2024C>G (p.Thr675Ser)
c.25496C>G (p.Thr8499Ser)
c.25445C>G (p.Thr8482Ser)
c.25298C>G (p.Thr8433Ser)
6g.152139990G=CA1673206187SYNE1c.1952C= (p.Thr651=)
c.25418C= (p.Thr8473=)
c.25274C= (p.Thr8425=)
c.820C=
c.1153C=
c.1062C=
c.1190C= (p.Thr397=)
c.24203C= (p.Thr8068=)
n.2166C=
c.4253C= (p.Thr1418=)
n.9110C=
c.3356C= (p.Thr1119=)
n.9002C=
n.2032C=
n.4440C=
n.2255C=
c.1883C= (p.Thr628=)
c.25523C= (p.Thr8508=)
c.25511C= (p.Thr8504=)
c.25502C= (p.Thr8501=)
c.25472C= (p.Thr8491=)
c.25508C= (p.Thr8503=)
c.25454C= (p.Thr8485=)
c.25451C= (p.Thr8484=)
c.25439C= (p.Thr8480=)
c.25382C= (p.Thr8461=)
c.25370C= (p.Thr8457=)
c.25367C= (p.Thr8456=)
c.25364C= (p.Thr8455=)
c.25520C= (p.Thr8507=)
c.25358C= (p.Thr8453=)
c.23798C= (p.Thr7933=)
c.23291C= (p.Thr7764=)
c.18758C= (p.Thr6253=)
c.2024C= (p.Thr675=)
c.25496C= (p.Thr8499=)
c.25445C= (p.Thr8482=)
c.25298C= (p.Thr8433=)
6g.152139990G>TCA366080067SYNE1c.1952C>A (p.Thr651Asn)
c.25418C>A (p.Thr8473Asn)
c.25274C>A (p.Thr8425Asn)
c.820C>A
c.1153C>A
c.1062C>A
c.1190C>A (p.Thr397Asn)
c.24203C>A (p.Thr8068Asn)
n.2166C>A
c.4253C>A (p.Thr1418Asn)
n.9110C>A
c.3356C>A (p.Thr1119Asn)
n.9002C>A
n.2032C>A
n.4440C>A
n.2255C>A
c.1883C>A (p.Thr628Asn)
c.25523C>A (p.Thr8508Asn)
c.25511C>A (p.Thr8504Asn)
c.25502C>A (p.Thr8501Asn)
c.25472C>A (p.Thr8491Asn)
c.25508C>A (p.Thr8503Asn)
c.25454C>A (p.Thr8485Asn)
c.25451C>A (p.Thr8484Asn)
c.25439C>A (p.Thr8480Asn)
c.25382C>A (p.Thr8461Asn)
c.25370C>A (p.Thr8457Asn)
c.25367C>A (p.Thr8456Asn)
c.25364C>A (p.Thr8455Asn)
c.25520C>A (p.Thr8507Asn)
c.25358C>A (p.Thr8453Asn)
c.23798C>A (p.Thr7933Asn)
c.23291C>A (p.Thr7764Asn)
c.18758C>A (p.Thr6253Asn)
c.2024C>A (p.Thr675Asn)
c.25496C>A (p.Thr8499Asn)
c.25445C>A (p.Thr8482Asn)
c.25298C>A (p.Thr8433Asn)
6g.152139991T>ACA366080070SYNE1c.1951A>T (p.Thr651Ser)
c.25417A>T (p.Thr8473Ser)
c.25273A>T (p.Thr8425Ser)
c.819A>T
c.1152A>T
c.1061A>T
c.1189A>T (p.Thr397Ser)
c.24202A>T (p.Thr8068Ser)
n.2165A>T
c.4252A>T (p.Thr1418Ser)
n.9109A>T
c.3355A>T (p.Thr1119Ser)
n.9001A>T
n.2031A>T
n.4439A>T
n.2254A>T
c.1882A>T (p.Thr628Ser)
c.25522A>T (p.Thr8508Ser)
c.25510A>T (p.Thr8504Ser)
c.25501A>T (p.Thr8501Ser)
c.25471A>T (p.Thr8491Ser)
c.25507A>T (p.Thr8503Ser)
c.25453A>T (p.Thr8485Ser)
c.25450A>T (p.Thr8484Ser)
c.25438A>T (p.Thr8480Ser)
c.25381A>T (p.Thr8461Ser)
c.25369A>T (p.Thr8457Ser)
c.25366A>T (p.Thr8456Ser)
c.25363A>T (p.Thr8455Ser)
c.25519A>T (p.Thr8507Ser)
c.25357A>T (p.Thr8453Ser)
c.23797A>T (p.Thr7933Ser)
c.23290A>T (p.Thr7764Ser)
c.18757A>T (p.Thr6253Ser)
c.2023A>T (p.Thr675Ser)
c.25495A>T (p.Thr8499Ser)
c.25444A>T (p.Thr8482Ser)
c.25297A>T (p.Thr8433Ser)
6g.152139991T>CCA366080072SYNE1c.1951A>G (p.Thr651Ala)
c.25417A>G (p.Thr8473Ala)
c.25273A>G (p.Thr8425Ala)
c.819A>G
c.1152A>G
c.1061A>G
c.1189A>G (p.Thr397Ala)
c.24202A>G (p.Thr8068Ala)
n.2165A>G
c.4252A>G (p.Thr1418Ala)
n.9109A>G
c.3355A>G (p.Thr1119Ala)
n.9001A>G
n.2031A>G
n.4439A>G
n.2254A>G
c.1882A>G (p.Thr628Ala)
c.25522A>G (p.Thr8508Ala)
c.25510A>G (p.Thr8504Ala)
c.25501A>G (p.Thr8501Ala)
c.25471A>G (p.Thr8491Ala)
c.25507A>G (p.Thr8503Ala)
c.25453A>G (p.Thr8485Ala)
c.25450A>G (p.Thr8484Ala)
c.25438A>G (p.Thr8480Ala)
c.25381A>G (p.Thr8461Ala)
c.25369A>G (p.Thr8457Ala)
c.25366A>G (p.Thr8456Ala)
c.25363A>G (p.Thr8455Ala)
c.25519A>G (p.Thr8507Ala)
c.25357A>G (p.Thr8453Ala)
c.23797A>G (p.Thr7933Ala)
c.23290A>G (p.Thr7764Ala)
c.18757A>G (p.Thr6253Ala)
c.2023A>G (p.Thr675Ala)
c.25495A>G (p.Thr8499Ala)
c.25444A>G (p.Thr8482Ala)
c.25297A>G (p.Thr8433Ala)
6g.152139991T>GCA366080074SYNE1c.1951A>C (p.Thr651Pro)
c.25417A>C (p.Thr8473Pro)
c.25273A>C (p.Thr8425Pro)
c.819A>C
c.1152A>C
c.1061A>C
c.1189A>C (p.Thr397Pro)
c.24202A>C (p.Thr8068Pro)
n.2165A>C
c.4252A>C (p.Thr1418Pro)
n.9109A>C
c.3355A>C (p.Thr1119Pro)
n.9001A>C
n.2031A>C
n.4439A>C
n.2254A>C
c.1882A>C (p.Thr628Pro)
c.25522A>C (p.Thr8508Pro)
c.25510A>C (p.Thr8504Pro)
c.25501A>C (p.Thr8501Pro)
c.25471A>C (p.Thr8491Pro)
c.25507A>C (p.Thr8503Pro)
c.25453A>C (p.Thr8485Pro)
c.25450A>C (p.Thr8484Pro)
c.25438A>C (p.Thr8480Pro)
c.25381A>C (p.Thr8461Pro)
c.25369A>C (p.Thr8457Pro)
c.25366A>C (p.Thr8456Pro)
c.25363A>C (p.Thr8455Pro)
c.25519A>C (p.Thr8507Pro)
c.25357A>C (p.Thr8453Pro)
c.23797A>C (p.Thr7933Pro)
c.23290A>C (p.Thr7764Pro)
c.18757A>C (p.Thr6253Pro)
c.2023A>C (p.Thr675Pro)
c.25495A>C (p.Thr8499Pro)
c.25444A>C (p.Thr8482Pro)
c.25297A>C (p.Thr8433Pro)
6g.152139992G>ACA452969817SYNE1c.1950C>T (p.Ser650=)
c.25416C>T (p.Ser8472=)
c.25272C>T (p.Ser8424=)
c.818C>T
c.1151C>T
c.1060C>T
c.1188C>T (p.Ser396=)
c.24201C>T (p.Ser8067=)
n.2164C>T
c.4251C>T (p.Ser1417=)
n.9108C>T
c.3354C>T (p.Ser1118=)
n.9000C>T
n.2030C>T
n.4438C>T
n.2253C>T
c.1881C>T (p.Ser627=)
c.25521C>T (p.Ser8507=)
c.25509C>T (p.Ser8503=)
c.25500C>T (p.Ser8500=)
c.25470C>T (p.Ser8490=)
c.25506C>T (p.Ser8502=)
c.25452C>T (p.Ser8484=)
c.25449C>T (p.Ser8483=)
c.25437C>T (p.Ser8479=)
c.25380C>T (p.Ser8460=)
c.25368C>T (p.Ser8456=)
c.25365C>T (p.Ser8455=)
c.25362C>T (p.Ser8454=)
c.25518C>T (p.Ser8506=)
c.25356C>T (p.Ser8452=)
c.23796C>T (p.Ser7932=)
c.23289C>T (p.Ser7763=)
c.18756C>T (p.Ser6252=)
c.2022C>T (p.Ser674=)
c.25494C>T (p.Ser8498=)
c.25443C>T (p.Ser8481=)
c.25296C>T (p.Ser8432=)
6g.152139992G>CCA366080076SYNE1c.1950C>G (p.Ser650Arg)
c.25416C>G (p.Ser8472Arg)
c.25272C>G (p.Ser8424Arg)
c.818C>G
c.1151C>G
c.1060C>G
c.1188C>G (p.Ser396Arg)
c.24201C>G (p.Ser8067Arg)
n.2164C>G
c.4251C>G (p.Ser1417Arg)
n.9108C>G
c.3354C>G (p.Ser1118Arg)
n.9000C>G
n.2030C>G
n.4438C>G
n.2253C>G
c.1881C>G (p.Ser627Arg)
c.25521C>G (p.Ser8507Arg)
c.25509C>G (p.Ser8503Arg)
c.25500C>G (p.Ser8500Arg)
c.25470C>G (p.Ser8490Arg)
c.25506C>G (p.Ser8502Arg)
c.25452C>G (p.Ser8484Arg)
c.25449C>G (p.Ser8483Arg)
c.25437C>G (p.Ser8479Arg)
c.25380C>G (p.Ser8460Arg)
c.25368C>G (p.Ser8456Arg)
c.25365C>G (p.Ser8455Arg)
c.25362C>G (p.Ser8454Arg)
c.25518C>G (p.Ser8506Arg)
c.25356C>G (p.Ser8452Arg)
c.23796C>G (p.Ser7932Arg)
c.23289C>G (p.Ser7763Arg)
c.18756C>G (p.Ser6252Arg)
c.2022C>G (p.Ser674Arg)
c.25494C>G (p.Ser8498Arg)
c.25443C>G (p.Ser8481Arg)
c.25296C>G (p.Ser8432Arg)
6g.152139992G>TCA366080078SYNE1c.1950C>A (p.Ser650Arg)
c.25416C>A (p.Ser8472Arg)
c.25272C>A (p.Ser8424Arg)
c.818C>A
c.1151C>A
c.1060C>A
c.1188C>A (p.Ser396Arg)
c.24201C>A (p.Ser8067Arg)
n.2164C>A
c.4251C>A (p.Ser1417Arg)
n.9108C>A
c.3354C>A (p.Ser1118Arg)
n.9000C>A
n.2030C>A
n.4438C>A
n.2253C>A
c.1881C>A (p.Ser627Arg)
c.25521C>A (p.Ser8507Arg)
c.25509C>A (p.Ser8503Arg)
c.25500C>A (p.Ser8500Arg)
c.25470C>A (p.Ser8490Arg)
c.25506C>A (p.Ser8502Arg)
c.25452C>A (p.Ser8484Arg)
c.25449C>A (p.Ser8483Arg)
c.25437C>A (p.Ser8479Arg)
c.25380C>A (p.Ser8460Arg)
c.25368C>A (p.Ser8456Arg)
c.25365C>A (p.Ser8455Arg)
c.25362C>A (p.Ser8454Arg)
c.25518C>A (p.Ser8506Arg)
c.25356C>A (p.Ser8452Arg)
c.23796C>A (p.Ser7932Arg)
c.23289C>A (p.Ser7763Arg)
c.18756C>A (p.Ser6252Arg)
c.2022C>A (p.Ser674Arg)
c.25494C>A (p.Ser8498Arg)
c.25443C>A (p.Ser8481Arg)
c.25296C>A (p.Ser8432Arg)
6g.152139993C>ACA366080080SYNE1c.1949G>T (p.Ser650Ile)
c.25415G>T (p.Ser8472Ile)
c.25271G>T (p.Ser8424Ile)
c.817G>T
c.1150G>T
c.1059G>T
c.1187G>T (p.Ser396Ile)
c.24200G>T (p.Ser8067Ile)
n.2163G>T
c.4250G>T (p.Ser1417Ile)
n.9107G>T
c.3353G>T (p.Ser1118Ile)
n.8999G>T
n.2029G>T
n.4437G>T
n.2252G>T
c.1880G>T (p.Ser627Ile)
c.25520G>T (p.Ser8507Ile)
c.25508G>T (p.Ser8503Ile)
c.25499G>T (p.Ser8500Ile)
c.25469G>T (p.Ser8490Ile)
c.25505G>T (p.Ser8502Ile)
c.25451G>T (p.Ser8484Ile)
c.25448G>T (p.Ser8483Ile)
c.25436G>T (p.Ser8479Ile)
c.25379G>T (p.Ser8460Ile)
c.25367G>T (p.Ser8456Ile)
c.25364G>T (p.Ser8455Ile)
c.25361G>T (p.Ser8454Ile)
c.25517G>T (p.Ser8506Ile)
c.25355G>T (p.Ser8452Ile)
c.23795G>T (p.Ser7932Ile)
c.23288G>T (p.Ser7763Ile)
c.18755G>T (p.Ser6252Ile)
c.2021G>T (p.Ser674Ile)
c.25493G>T (p.Ser8498Ile)
c.25442G>T (p.Ser8481Ile)
c.25295G>T (p.Ser8432Ile)
6g.152139993C=CA1673206192SYNE1c.1949G= (p.Ser650=)
c.25415G= (p.Ser8472=)
c.25271G= (p.Ser8424=)
c.817G=
c.1150G=
c.1059G=
c.1187G= (p.Ser396=)
c.24200G= (p.Ser8067=)
n.2163G=
c.4250G= (p.Ser1417=)
n.9107G=
c.3353G= (p.Ser1118=)
n.8999G=
n.2029G=
n.4437G=
n.2252G=
c.1880G= (p.Ser627=)
c.25520G= (p.Ser8507=)
c.25508G= (p.Ser8503=)
c.25499G= (p.Ser8500=)
c.25469G= (p.Ser8490=)
c.25505G= (p.Ser8502=)
c.25451G= (p.Ser8484=)
c.25448G= (p.Ser8483=)
c.25436G= (p.Ser8479=)
c.25379G= (p.Ser8460=)
c.25367G= (p.Ser8456=)
c.25364G= (p.Ser8455=)
c.25361G= (p.Ser8454=)
c.25517G= (p.Ser8506=)
c.25355G= (p.Ser8452=)
c.23795G= (p.Ser7932=)
c.23288G= (p.Ser7763=)
c.18755G= (p.Ser6252=)
c.2021G= (p.Ser674=)
c.25493G= (p.Ser8498=)
c.25442G= (p.Ser8481=)
c.25295G= (p.Ser8432=)
6g.152139993C>GCA366080081SYNE1c.1949G>C (p.Ser650Thr)
c.25415G>C (p.Ser8472Thr)
c.25271G>C (p.Ser8424Thr)
c.817G>C
c.1150G>C
c.1059G>C
c.1187G>C (p.Ser396Thr)
c.24200G>C (p.Ser8067Thr)
n.2163G>C
c.4250G>C (p.Ser1417Thr)
n.9107G>C
c.3353G>C (p.Ser1118Thr)
n.8999G>C
n.2029G>C
n.4437G>C
n.2252G>C
c.1880G>C (p.Ser627Thr)
c.25520G>C (p.Ser8507Thr)
c.25508G>C (p.Ser8503Thr)
c.25499G>C (p.Ser8500Thr)
c.25469G>C (p.Ser8490Thr)
c.25505G>C (p.Ser8502Thr)
c.25451G>C (p.Ser8484Thr)
c.25448G>C (p.Ser8483Thr)
c.25436G>C (p.Ser8479Thr)
c.25379G>C (p.Ser8460Thr)
c.25367G>C (p.Ser8456Thr)
c.25364G>C (p.Ser8455Thr)
c.25361G>C (p.Ser8454Thr)
c.25517G>C (p.Ser8506Thr)
c.25355G>C (p.Ser8452Thr)
c.23795G>C (p.Ser7932Thr)
c.23288G>C (p.Ser7763Thr)
c.18755G>C (p.Ser6252Thr)
c.2021G>C (p.Ser674Thr)
c.25493G>C (p.Ser8498Thr)
c.25442G>C (p.Ser8481Thr)
c.25295G>C (p.Ser8432Thr)
6g.152139993C>TCA366080083SYNE1c.1949G>A (p.Ser650Asn)
c.25415G>A (p.Ser8472Asn)
c.25271G>A (p.Ser8424Asn)
c.817G>A
c.1150G>A
c.1059G>A
c.1187G>A (p.Ser396Asn)
c.24200G>A (p.Ser8067Asn)
n.2163G>A
c.4250G>A (p.Ser1417Asn)
n.9107G>A
c.3353G>A (p.Ser1118Asn)
n.8999G>A
n.2029G>A
n.4437G>A
n.2252G>A
c.1880G>A (p.Ser627Asn)
c.25520G>A (p.Ser8507Asn)
c.25508G>A (p.Ser8503Asn)
c.25499G>A (p.Ser8500Asn)
c.25469G>A (p.Ser8490Asn)
c.25505G>A (p.Ser8502Asn)
c.25451G>A (p.Ser8484Asn)
c.25448G>A (p.Ser8483Asn)
c.25436G>A (p.Ser8479Asn)
c.25379G>A (p.Ser8460Asn)
c.25367G>A (p.Ser8456Asn)
c.25364G>A (p.Ser8455Asn)
c.25361G>A (p.Ser8454Asn)
c.25517G>A (p.Ser8506Asn)
c.25355G>A (p.Ser8452Asn)
c.23795G>A (p.Ser7932Asn)
c.23288G>A (p.Ser7763Asn)
c.18755G>A (p.Ser6252Asn)
c.2021G>A (p.Ser674Asn)
c.25493G>A (p.Ser8498Asn)
c.25442G>A (p.Ser8481Asn)
c.25295G>A (p.Ser8432Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.152139994T>ACA366080085SYNE1c.1948A>T (p.Ser650Cys)
c.25414A>T (p.Ser8472Cys)
c.25270A>T (p.Ser8424Cys)
c.816A>T
c.1149A>T
c.1058A>T
c.1186A>T (p.Ser396Cys)
c.24199A>T (p.Ser8067Cys)
n.2162A>T
c.4249A>T (p.Ser1417Cys)
n.9106A>T
c.3352A>T (p.Ser1118Cys)
n.8998A>T
n.2028A>T
n.4436A>T
n.2251A>T
c.1879A>T (p.Ser627Cys)
c.25519A>T (p.Ser8507Cys)
c.25507A>T (p.Ser8503Cys)
c.25498A>T (p.Ser8500Cys)
c.25468A>T (p.Ser8490Cys)
c.25504A>T (p.Ser8502Cys)
c.25450A>T (p.Ser8484Cys)
c.25447A>T (p.Ser8483Cys)
c.25435A>T (p.Ser8479Cys)
c.25378A>T (p.Ser8460Cys)
c.25366A>T (p.Ser8456Cys)
c.25363A>T (p.Ser8455Cys)
c.25360A>T (p.Ser8454Cys)
c.25516A>T (p.Ser8506Cys)
c.25354A>T (p.Ser8452Cys)
c.23794A>T (p.Ser7932Cys)
c.23287A>T (p.Ser7763Cys)
c.18754A>T (p.Ser6252Cys)
c.2020A>T (p.Ser674Cys)
c.25492A>T (p.Ser8498Cys)
c.25441A>T (p.Ser8481Cys)
c.25294A>T (p.Ser8432Cys)
6g.152139994T>CCA366080087SYNE1c.1948A>G (p.Ser650Gly)
c.25414A>G (p.Ser8472Gly)
c.25270A>G (p.Ser8424Gly)
c.816A>G
c.1149A>G
c.1058A>G
c.1186A>G (p.Ser396Gly)
c.24199A>G (p.Ser8067Gly)
n.2162A>G
c.4249A>G (p.Ser1417Gly)
n.9106A>G
c.3352A>G (p.Ser1118Gly)
n.8998A>G
n.2028A>G
n.4436A>G
n.2251A>G
c.1879A>G (p.Ser627Gly)
c.25519A>G (p.Ser8507Gly)
c.25507A>G (p.Ser8503Gly)
c.25498A>G (p.Ser8500Gly)
c.25468A>G (p.Ser8490Gly)
c.25504A>G (p.Ser8502Gly)
c.25450A>G (p.Ser8484Gly)
c.25447A>G (p.Ser8483Gly)
c.25435A>G (p.Ser8479Gly)
c.25378A>G (p.Ser8460Gly)
c.25366A>G (p.Ser8456Gly)
c.25363A>G (p.Ser8455Gly)
c.25360A>G (p.Ser8454Gly)
c.25516A>G (p.Ser8506Gly)
c.25354A>G (p.Ser8452Gly)
c.23794A>G (p.Ser7932Gly)
c.23287A>G (p.Ser7763Gly)
c.18754A>G (p.Ser6252Gly)
c.2020A>G (p.Ser674Gly)
c.25492A>G (p.Ser8498Gly)
c.25441A>G (p.Ser8481Gly)
c.25294A>G (p.Ser8432Gly)
6g.152139994T>GCA366080088SYNE1c.1948A>C (p.Ser650Arg)
c.25414A>C (p.Ser8472Arg)
c.25270A>C (p.Ser8424Arg)
c.816A>C
c.1149A>C
c.1058A>C
c.1186A>C (p.Ser396Arg)
c.24199A>C (p.Ser8067Arg)
n.2162A>C
c.4249A>C (p.Ser1417Arg)
n.9106A>C
c.3352A>C (p.Ser1118Arg)
n.8998A>C
n.2028A>C
n.4436A>C
n.2251A>C
c.1879A>C (p.Ser627Arg)
c.25519A>C (p.Ser8507Arg)
c.25507A>C (p.Ser8503Arg)
c.25498A>C (p.Ser8500Arg)
c.25468A>C (p.Ser8490Arg)
c.25504A>C (p.Ser8502Arg)
c.25450A>C (p.Ser8484Arg)
c.25447A>C (p.Ser8483Arg)
c.25435A>C (p.Ser8479Arg)
c.25378A>C (p.Ser8460Arg)
c.25366A>C (p.Ser8456Arg)
c.25363A>C (p.Ser8455Arg)
c.25360A>C (p.Ser8454Arg)
c.25516A>C (p.Ser8506Arg)
c.25354A>C (p.Ser8452Arg)
c.23794A>C (p.Ser7932Arg)
c.23287A>C (p.Ser7763Arg)
c.18754A>C (p.Ser6252Arg)
c.2020A>C (p.Ser674Arg)
c.25492A>C (p.Ser8498Arg)
c.25441A>C (p.Ser8481Arg)
c.25294A>C (p.Ser8432Arg)
6g.152139995G>ACA452969818SYNE1c.1947C>T (p.Leu649=)
c.25413C>T (p.Leu8471=)
c.25269C>T (p.Leu8423=)
c.815C>T
c.1148C>T
c.1057C>T
c.1185C>T (p.Leu395=)
c.24198C>T (p.Leu8066=)
n.2161C>T
c.4248C>T (p.Leu1416=)
n.9105C>T
c.3351C>T (p.Leu1117=)
n.8997C>T
n.2027C>T
n.4435C>T
n.2250C>T
c.1878C>T (p.Leu626=)
c.25518C>T (p.Leu8506=)
c.25506C>T (p.Leu8502=)
c.25497C>T (p.Leu8499=)
c.25467C>T (p.Leu8489=)
c.25503C>T (p.Leu8501=)
c.25449C>T (p.Leu8483=)
c.25446C>T (p.Leu8482=)
c.25434C>T (p.Leu8478=)
c.25377C>T (p.Leu8459=)
c.25365C>T (p.Leu8455=)
c.25362C>T (p.Leu8454=)
c.25359C>T (p.Leu8453=)
c.25515C>T (p.Leu8505=)
c.25353C>T (p.Leu8451=)
c.23793C>T (p.Leu7931=)
c.23286C>T (p.Leu7762=)
c.18753C>T (p.Leu6251=)
c.2019C>T (p.Leu673=)
c.25491C>T (p.Leu8497=)
c.25440C>T (p.Leu8480=)
c.25293C>T (p.Leu8431=)
6g.152139995G>CCA452969819SYNE1c.1947C>G (p.Leu649=)
c.25413C>G (p.Leu8471=)
c.25269C>G (p.Leu8423=)
c.815C>G
c.1148C>G
c.1057C>G
c.1185C>G (p.Leu395=)
c.24198C>G (p.Leu8066=)
n.2161C>G
c.4248C>G (p.Leu1416=)
n.9105C>G
c.3351C>G (p.Leu1117=)
n.8997C>G
n.2027C>G
n.4435C>G
n.2250C>G
c.1878C>G (p.Leu626=)
c.25518C>G (p.Leu8506=)
c.25506C>G (p.Leu8502=)
c.25497C>G (p.Leu8499=)
c.25467C>G (p.Leu8489=)
c.25503C>G (p.Leu8501=)
c.25449C>G (p.Leu8483=)
c.25446C>G (p.Leu8482=)
c.25434C>G (p.Leu8478=)
c.25377C>G (p.Leu8459=)
c.25365C>G (p.Leu8455=)
c.25362C>G (p.Leu8454=)
c.25359C>G (p.Leu8453=)
c.25515C>G (p.Leu8505=)
c.25353C>G (p.Leu8451=)
c.23793C>G (p.Leu7931=)
c.23286C>G (p.Leu7762=)
c.18753C>G (p.Leu6251=)
c.2019C>G (p.Leu673=)
c.25491C>G (p.Leu8497=)
c.25440C>G (p.Leu8480=)
c.25293C>G (p.Leu8431=)
6g.152139995G>TCA452969820SYNE1c.1947C>A (p.Leu649=)
c.25413C>A (p.Leu8471=)
c.25269C>A (p.Leu8423=)
c.815C>A
c.1148C>A
c.1057C>A
c.1185C>A (p.Leu395=)
c.24198C>A (p.Leu8066=)
n.2161C>A
c.4248C>A (p.Leu1416=)
n.9105C>A
c.3351C>A (p.Leu1117=)
n.8997C>A
n.2027C>A
n.4435C>A
n.2250C>A
c.1878C>A (p.Leu626=)
c.25518C>A (p.Leu8506=)
c.25506C>A (p.Leu8502=)
c.25497C>A (p.Leu8499=)
c.25467C>A (p.Leu8489=)
c.25503C>A (p.Leu8501=)
c.25449C>A (p.Leu8483=)
c.25446C>A (p.Leu8482=)
c.25434C>A (p.Leu8478=)
c.25377C>A (p.Leu8459=)
c.25365C>A (p.Leu8455=)
c.25362C>A (p.Leu8454=)
c.25359C>A (p.Leu8453=)
c.25515C>A (p.Leu8505=)
c.25353C>A (p.Leu8451=)
c.23793C>A (p.Leu7931=)
c.23286C>A (p.Leu7762=)
c.18753C>A (p.Leu6251=)
c.2019C>A (p.Leu673=)
c.25491C>A (p.Leu8497=)
c.25440C>A (p.Leu8480=)
c.25293C>A (p.Leu8431=)
6g.152139996A>CCA366080094SYNE1c.1946T>G (p.Leu649Arg)
c.25412T>G (p.Leu8471Arg)
c.25268T>G (p.Leu8423Arg)
c.814T>G
c.1147T>G
c.1056T>G
c.1184T>G (p.Leu395Arg)
c.24197T>G (p.Leu8066Arg)
n.2160T>G
c.4247T>G (p.Leu1416Arg)
n.9104T>G
c.3350T>G (p.Leu1117Arg)
n.8996T>G
n.2026T>G
n.4434T>G
n.2249T>G
c.1877T>G (p.Leu626Arg)
c.25517T>G (p.Leu8506Arg)
c.25505T>G (p.Leu8502Arg)
c.25496T>G (p.Leu8499Arg)
c.25466T>G (p.Leu8489Arg)
c.25502T>G (p.Leu8501Arg)
c.25448T>G (p.Leu8483Arg)
c.25445T>G (p.Leu8482Arg)
c.25433T>G (p.Leu8478Arg)
c.25376T>G (p.Leu8459Arg)
c.25364T>G (p.Leu8455Arg)
c.25361T>G (p.Leu8454Arg)
c.25358T>G (p.Leu8453Arg)
c.25514T>G (p.Leu8505Arg)
c.25352T>G (p.Leu8451Arg)
c.23792T>G (p.Leu7931Arg)
c.23285T>G (p.Leu7762Arg)
c.18752T>G (p.Leu6251Arg)
c.2018T>G (p.Leu673Arg)
c.25490T>G (p.Leu8497Arg)
c.25439T>G (p.Leu8480Arg)
c.25292T>G (p.Leu8431Arg)
6g.152139996A>GCA366080090SYNE1c.1946T>C (p.Leu649Pro)
c.25412T>C (p.Leu8471Pro)
c.25268T>C (p.Leu8423Pro)
c.814T>C
c.1147T>C
c.1056T>C
c.1184T>C (p.Leu395Pro)
c.24197T>C (p.Leu8066Pro)
n.2160T>C
c.4247T>C (p.Leu1416Pro)
n.9104T>C
c.3350T>C (p.Leu1117Pro)
n.8996T>C
n.2026T>C
n.4434T>C
n.2249T>C
c.1877T>C (p.Leu626Pro)
c.25517T>C (p.Leu8506Pro)
c.25505T>C (p.Leu8502Pro)
c.25496T>C (p.Leu8499Pro)
c.25466T>C (p.Leu8489Pro)
c.25502T>C (p.Leu8501Pro)
c.25448T>C (p.Leu8483Pro)
c.25445T>C (p.Leu8482Pro)
c.25433T>C (p.Leu8478Pro)
c.25376T>C (p.Leu8459Pro)
c.25364T>C (p.Leu8455Pro)
c.25361T>C (p.Leu8454Pro)
c.25358T>C (p.Leu8453Pro)
c.25514T>C (p.Leu8505Pro)
c.25352T>C (p.Leu8451Pro)
c.23792T>C (p.Leu7931Pro)
c.23285T>C (p.Leu7762Pro)
c.18752T>C (p.Leu6251Pro)
c.2018T>C (p.Leu673Pro)
c.25490T>C (p.Leu8497Pro)
c.25439T>C (p.Leu8480Pro)
c.25292T>C (p.Leu8431Pro)
6g.152139996A>TCA366080092SYNE1c.1946T>A (p.Leu649His)
c.25412T>A (p.Leu8471His)
c.25268T>A (p.Leu8423His)
c.814T>A
c.1147T>A
c.1056T>A
c.1184T>A (p.Leu395His)
c.24197T>A (p.Leu8066His)
n.2160T>A
c.4247T>A (p.Leu1416His)
n.9104T>A
c.3350T>A (p.Leu1117His)
n.8996T>A
n.2026T>A
n.4434T>A
n.2249T>A
c.1877T>A (p.Leu626His)
c.25517T>A (p.Leu8506His)
c.25505T>A (p.Leu8502His)
c.25496T>A (p.Leu8499His)
c.25466T>A (p.Leu8489His)
c.25502T>A (p.Leu8501His)
c.25448T>A (p.Leu8483His)
c.25445T>A (p.Leu8482His)
c.25433T>A (p.Leu8478His)
c.25376T>A (p.Leu8459His)
c.25364T>A (p.Leu8455His)
c.25361T>A (p.Leu8454His)
c.25358T>A (p.Leu8453His)
c.25514T>A (p.Leu8505His)
c.25352T>A (p.Leu8451His)
c.23792T>A (p.Leu7931His)
c.23285T>A (p.Leu7762His)
c.18752T>A (p.Leu6251His)
c.2018T>A (p.Leu673His)
c.25490T>A (p.Leu8497His)
c.25439T>A (p.Leu8480His)
c.25292T>A (p.Leu8431His)
6g.152139997G>ACA366080096SYNE1c.1945C>T (p.Leu649Phe)
c.25411C>T (p.Leu8471Phe)
c.25267C>T (p.Leu8423Phe)
c.813C>T
c.1146C>T
c.1055C>T
c.1183C>T (p.Leu395Phe)
c.24196C>T (p.Leu8066Phe)
n.2159C>T
c.4246C>T (p.Leu1416Phe)
n.9103C>T
c.3349C>T (p.Leu1117Phe)
n.8995C>T
n.2025C>T
n.4433C>T
n.2248C>T
c.1876C>T (p.Leu626Phe)
c.25516C>T (p.Leu8506Phe)
c.25504C>T (p.Leu8502Phe)
c.25495C>T (p.Leu8499Phe)
c.25465C>T (p.Leu8489Phe)
c.25501C>T (p.Leu8501Phe)
c.25447C>T (p.Leu8483Phe)
c.25444C>T (p.Leu8482Phe)
c.25432C>T (p.Leu8478Phe)
c.25375C>T (p.Leu8459Phe)
c.25363C>T (p.Leu8455Phe)
c.25360C>T (p.Leu8454Phe)
c.25357C>T (p.Leu8453Phe)
c.25513C>T (p.Leu8505Phe)
c.25351C>T (p.Leu8451Phe)
c.23791C>T (p.Leu7931Phe)
c.23284C>T (p.Leu7762Phe)
c.18751C>T (p.Leu6251Phe)
c.2017C>T (p.Leu673Phe)
c.25489C>T (p.Leu8497Phe)
c.25438C>T (p.Leu8480Phe)
c.25291C>T (p.Leu8431Phe)
6g.152139997G>CCA366080097SYNE1c.1945C>G (p.Leu649Val)
c.25411C>G (p.Leu8471Val)
c.25267C>G (p.Leu8423Val)
c.813C>G
c.1146C>G
c.1055C>G
c.1183C>G (p.Leu395Val)
c.24196C>G (p.Leu8066Val)
n.2159C>G
c.4246C>G (p.Leu1416Val)
n.9103C>G
c.3349C>G (p.Leu1117Val)
n.8995C>G
n.2025C>G
n.4433C>G
n.2248C>G
c.1876C>G (p.Leu626Val)
c.25516C>G (p.Leu8506Val)
c.25504C>G (p.Leu8502Val)
c.25495C>G (p.Leu8499Val)
c.25465C>G (p.Leu8489Val)
c.25501C>G (p.Leu8501Val)
c.25447C>G (p.Leu8483Val)
c.25444C>G (p.Leu8482Val)
c.25432C>G (p.Leu8478Val)
c.25375C>G (p.Leu8459Val)
c.25363C>G (p.Leu8455Val)
c.25360C>G (p.Leu8454Val)
c.25357C>G (p.Leu8453Val)
c.25513C>G (p.Leu8505Val)
c.25351C>G (p.Leu8451Val)
c.23791C>G (p.Leu7931Val)
c.23284C>G (p.Leu7762Val)
c.18751C>G (p.Leu6251Val)
c.2017C>G (p.Leu673Val)
c.25489C>G (p.Leu8497Val)
c.25438C>G (p.Leu8480Val)
c.25291C>G (p.Leu8431Val)
6g.152139997G>TCA366080099SYNE1c.1945C>A (p.Leu649Ile)
c.25411C>A (p.Leu8471Ile)
c.25267C>A (p.Leu8423Ile)
c.813C>A
c.1146C>A
c.1055C>A
c.1183C>A (p.Leu395Ile)
c.24196C>A (p.Leu8066Ile)
n.2159C>A
c.4246C>A (p.Leu1416Ile)
n.9103C>A
c.3349C>A (p.Leu1117Ile)
n.8995C>A
n.2025C>A
n.4433C>A
n.2248C>A
c.1876C>A (p.Leu626Ile)
c.25516C>A (p.Leu8506Ile)
c.25504C>A (p.Leu8502Ile)
c.25495C>A (p.Leu8499Ile)
c.25465C>A (p.Leu8489Ile)
c.25501C>A (p.Leu8501Ile)
c.25447C>A (p.Leu8483Ile)
c.25444C>A (p.Leu8482Ile)
c.25432C>A (p.Leu8478Ile)
c.25375C>A (p.Leu8459Ile)
c.25363C>A (p.Leu8455Ile)
c.25360C>A (p.Leu8454Ile)
c.25357C>A (p.Leu8453Ile)
c.25513C>A (p.Leu8505Ile)
c.25351C>A (p.Leu8451Ile)
c.23791C>A (p.Leu7931Ile)
c.23284C>A (p.Leu7762Ile)
c.18751C>A (p.Leu6251Ile)
c.2017C>A (p.Leu673Ile)
c.25489C>A (p.Leu8497Ile)
c.25438C>A (p.Leu8480Ile)
c.25291C>A (p.Leu8431Ile)
6g.152139998T>ACA366080101SYNE1c.1944A>T (p.Glu648Asp)
c.25410A>T (p.Glu8470Asp)
c.25266A>T (p.Glu8422Asp)
c.812A>T
c.1145A>T
c.1054A>T
c.1182A>T (p.Glu394Asp)
c.24195A>T (p.Glu8065Asp)
n.2158A>T
c.4245A>T (p.Glu1415Asp)
n.9102A>T
c.3348A>T (p.Glu1116Asp)
n.8994A>T
n.2024A>T
n.4432A>T
n.2247A>T
c.1875A>T (p.Glu625Asp)
c.25515A>T (p.Glu8505Asp)
c.25503A>T (p.Glu8501Asp)
c.25494A>T (p.Glu8498Asp)
c.25464A>T (p.Glu8488Asp)
c.25500A>T (p.Glu8500Asp)
c.25446A>T (p.Glu8482Asp)
c.25443A>T (p.Glu8481Asp)
c.25431A>T (p.Glu8477Asp)
c.25374A>T (p.Glu8458Asp)
c.25362A>T (p.Glu8454Asp)
c.25359A>T (p.Glu8453Asp)
c.25356A>T (p.Glu8452Asp)
c.25512A>T (p.Glu8504Asp)
c.25350A>T (p.Glu8450Asp)
c.23790A>T (p.Glu7930Asp)
c.23283A>T (p.Glu7761Asp)
c.18750A>T (p.Glu6250Asp)
c.2016A>T (p.Glu672Asp)
c.25488A>T (p.Glu8496Asp)
c.25437A>T (p.Glu8479Asp)
c.25290A>T (p.Glu8430Asp)
6g.152139998T>CCA452969821SYNE1c.1944A>G (p.Glu648=)
c.25410A>G (p.Glu8470=)
c.25266A>G (p.Glu8422=)
c.812A>G
c.1145A>G
c.1054A>G
c.1182A>G (p.Glu394=)
c.24195A>G (p.Glu8065=)
n.2158A>G
c.4245A>G (p.Glu1415=)
n.9102A>G
c.3348A>G (p.Glu1116=)
n.8994A>G
n.2024A>G
n.4432A>G
n.2247A>G
c.1875A>G (p.Glu625=)
c.25515A>G (p.Glu8505=)
c.25503A>G (p.Glu8501=)
c.25494A>G (p.Glu8498=)
c.25464A>G (p.Glu8488=)
c.25500A>G (p.Glu8500=)
c.25446A>G (p.Glu8482=)
c.25443A>G (p.Glu8481=)
c.25431A>G (p.Glu8477=)
c.25374A>G (p.Glu8458=)
c.25362A>G (p.Glu8454=)
c.25359A>G (p.Glu8453=)
c.25356A>G (p.Glu8452=)
c.25512A>G (p.Glu8504=)
c.25350A>G (p.Glu8450=)
c.23790A>G (p.Glu7930=)
c.23283A>G (p.Glu7761=)
c.18750A>G (p.Glu6250=)
c.2016A>G (p.Glu672=)
c.25488A>G (p.Glu8496=)
c.25437A>G (p.Glu8479=)
c.25290A>G (p.Glu8430=)
6g.152139998T>GCA366080102SYNE1c.1944A>C (p.Glu648Asp)
c.25410A>C (p.Glu8470Asp)
c.25266A>C (p.Glu8422Asp)
c.812A>C
c.1145A>C
c.1054A>C
c.1182A>C (p.Glu394Asp)
c.24195A>C (p.Glu8065Asp)
n.2158A>C
c.4245A>C (p.Glu1415Asp)
n.9102A>C
c.3348A>C (p.Glu1116Asp)
n.8994A>C
n.2024A>C
n.4432A>C
n.2247A>C
c.1875A>C (p.Glu625Asp)
c.25515A>C (p.Glu8505Asp)
c.25503A>C (p.Glu8501Asp)
c.25494A>C (p.Glu8498Asp)
c.25464A>C (p.Glu8488Asp)
c.25500A>C (p.Glu8500Asp)
c.25446A>C (p.Glu8482Asp)
c.25443A>C (p.Glu8481Asp)
c.25431A>C (p.Glu8477Asp)
c.25374A>C (p.Glu8458Asp)
c.25362A>C (p.Glu8454Asp)
c.25359A>C (p.Glu8453Asp)
c.25356A>C (p.Glu8452Asp)
c.25512A>C (p.Glu8504Asp)
c.25350A>C (p.Glu8450Asp)
c.23790A>C (p.Glu7930Asp)
c.23283A>C (p.Glu7761Asp)
c.18750A>C (p.Glu6250Asp)
c.2016A>C (p.Glu672Asp)
c.25488A>C (p.Glu8496Asp)
c.25437A>C (p.Glu8479Asp)
c.25290A>C (p.Glu8430Asp)
6g.152139999T>ACA366080104SYNE1c.1943A>T (p.Glu648Val)
c.25409A>T (p.Glu8470Val)
c.25265A>T (p.Glu8422Val)
c.811A>T
c.1144A>T
c.1053A>T
c.1181A>T (p.Glu394Val)
c.24194A>T (p.Glu8065Val)
n.2157A>T
c.4244A>T (p.Glu1415Val)
n.9101A>T
c.3347A>T (p.Glu1116Val)
n.8993A>T
n.2023A>T
n.4431A>T
n.2246A>T
c.1874A>T (p.Glu625Val)
c.25514A>T (p.Glu8505Val)
c.25502A>T (p.Glu8501Val)
c.25493A>T (p.Glu8498Val)
c.25463A>T (p.Glu8488Val)
c.25499A>T (p.Glu8500Val)
c.25445A>T (p.Glu8482Val)
c.25442A>T (p.Glu8481Val)
c.25430A>T (p.Glu8477Val)
c.25373A>T (p.Glu8458Val)
c.25361A>T (p.Glu8454Val)
c.25358A>T (p.Glu8453Val)
c.25355A>T (p.Glu8452Val)
c.25511A>T (p.Glu8504Val)
c.25349A>T (p.Glu8450Val)
c.23789A>T (p.Glu7930Val)
c.23282A>T (p.Glu7761Val)
c.18749A>T (p.Glu6250Val)
c.2015A>T (p.Glu672Val)
c.25487A>T (p.Glu8496Val)
c.25436A>T (p.Glu8479Val)
c.25289A>T (p.Glu8430Val)
6g.152139999T>CCA366080106SYNE1c.1943A>G (p.Glu648Gly)
c.25409A>G (p.Glu8470Gly)
c.25265A>G (p.Glu8422Gly)
c.811A>G
c.1144A>G
c.1053A>G
c.1181A>G (p.Glu394Gly)
c.24194A>G (p.Glu8065Gly)
n.2157A>G
c.4244A>G (p.Glu1415Gly)
n.9101A>G
c.3347A>G (p.Glu1116Gly)
n.8993A>G
n.2023A>G
n.4431A>G
n.2246A>G
c.1874A>G (p.Glu625Gly)
c.25514A>G (p.Glu8505Gly)
c.25502A>G (p.Glu8501Gly)
c.25493A>G (p.Glu8498Gly)
c.25463A>G (p.Glu8488Gly)
c.25499A>G (p.Glu8500Gly)
c.25445A>G (p.Glu8482Gly)
c.25442A>G (p.Glu8481Gly)
c.25430A>G (p.Glu8477Gly)
c.25373A>G (p.Glu8458Gly)
c.25361A>G (p.Glu8454Gly)
c.25358A>G (p.Glu8453Gly)
c.25355A>G (p.Glu8452Gly)
c.25511A>G (p.Glu8504Gly)
c.25349A>G (p.Glu8450Gly)
c.23789A>G (p.Glu7930Gly)
c.23282A>G (p.Glu7761Gly)
c.18749A>G (p.Glu6250Gly)
c.2015A>G (p.Glu672Gly)
c.25487A>G (p.Glu8496Gly)
c.25436A>G (p.Glu8479Gly)
c.25289A>G (p.Glu8430Gly)
 dbSNP gnomAD v2
6g.152139999T>GCA366080107SYNE1c.1943A>C (p.Glu648Ala)
c.25409A>C (p.Glu8470Ala)
c.25265A>C (p.Glu8422Ala)
c.811A>C
c.1144A>C
c.1053A>C
c.1181A>C (p.Glu394Ala)
c.24194A>C (p.Glu8065Ala)
n.2157A>C
c.4244A>C (p.Glu1415Ala)
n.9101A>C
c.3347A>C (p.Glu1116Ala)
n.8993A>C
n.2023A>C
n.4431A>C
n.2246A>C
c.1874A>C (p.Glu625Ala)
c.25514A>C (p.Glu8505Ala)
c.25502A>C (p.Glu8501Ala)
c.25493A>C (p.Glu8498Ala)
c.25463A>C (p.Glu8488Ala)
c.25499A>C (p.Glu8500Ala)
c.25445A>C (p.Glu8482Ala)
c.25442A>C (p.Glu8481Ala)
c.25430A>C (p.Glu8477Ala)
c.25373A>C (p.Glu8458Ala)
c.25361A>C (p.Glu8454Ala)
c.25358A>C (p.Glu8453Ala)
c.25355A>C (p.Glu8452Ala)
c.25511A>C (p.Glu8504Ala)
c.25349A>C (p.Glu8450Ala)
c.23789A>C (p.Glu7930Ala)
c.23282A>C (p.Glu7761Ala)
c.18749A>C (p.Glu6250Ala)
c.2015A>C (p.Glu672Ala)
c.25487A>C (p.Glu8496Ala)
c.25436A>C (p.Glu8479Ala)
c.25289A>C (p.Glu8430Ala)
6g.152139999T=CA1673206195SYNE1c.1943A= (p.Glu648=)
c.25409A= (p.Glu8470=)
c.25265A= (p.Glu8422=)
c.811A=
c.1144A=
c.1053A=
c.1181A= (p.Glu394=)
c.24194A= (p.Glu8065=)
n.2157A=
c.4244A= (p.Glu1415=)
n.9101A=
c.3347A= (p.Glu1116=)
n.8993A=
n.2023A=
n.4431A=
n.2246A=
c.1874A= (p.Glu625=)
c.25514A= (p.Glu8505=)
c.25502A= (p.Glu8501=)
c.25493A= (p.Glu8498=)
c.25463A= (p.Glu8488=)
c.25499A= (p.Glu8500=)
c.25445A= (p.Glu8482=)
c.25442A= (p.Glu8481=)
c.25430A= (p.Glu8477=)
c.25373A= (p.Glu8458=)
c.25361A= (p.Glu8454=)
c.25358A= (p.Glu8453=)
c.25355A= (p.Glu8452=)
c.25511A= (p.Glu8504=)
c.25349A= (p.Glu8450=)
c.23789A= (p.Glu7930=)
c.23282A= (p.Glu7761=)
c.18749A= (p.Glu6250=)
c.2015A= (p.Glu672=)
c.25487A= (p.Glu8496=)
c.25436A= (p.Glu8479=)
c.25289A= (p.Glu8430=)
6g.152140000C>ACA366080109SYNE1c.1942G>T (p.Glu648Ter)
c.25408G>T (p.Glu8470Ter)
c.25264G>T (p.Glu8422Ter)
c.810G>T
c.1143G>T
c.1052G>T
c.1180G>T (p.Glu394Ter)
c.24193G>T (p.Glu8065Ter)
n.2156G>T
c.4243G>T (p.Glu1415Ter)
n.9100G>T
c.3346G>T (p.Glu1116Ter)
n.8992G>T
n.2022G>T
n.4430G>T
n.2245G>T
c.1873G>T (p.Glu625Ter)
c.25513G>T (p.Glu8505Ter)
c.25501G>T (p.Glu8501Ter)
c.25492G>T (p.Glu8498Ter)
c.25462G>T (p.Glu8488Ter)
c.25498G>T (p.Glu8500Ter)
c.25444G>T (p.Glu8482Ter)
c.25441G>T (p.Glu8481Ter)
c.25429G>T (p.Glu8477Ter)
c.25372G>T (p.Glu8458Ter)
c.25360G>T (p.Glu8454Ter)
c.25357G>T (p.Glu8453Ter)
c.25354G>T (p.Glu8452Ter)
c.25510G>T (p.Glu8504Ter)
c.25348G>T (p.Glu8450Ter)
c.23788G>T (p.Glu7930Ter)
c.23281G>T (p.Glu7761Ter)
c.18748G>T (p.Glu6250Ter)
c.2014G>T (p.Glu672Ter)
c.25486G>T (p.Glu8496Ter)
c.25435G>T (p.Glu8479Ter)
c.25288G>T (p.Glu8430Ter)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140000C>GCA366080111SYNE1c.1942G>C (p.Glu648Gln)
c.25408G>C (p.Glu8470Gln)
c.25264G>C (p.Glu8422Gln)
c.810G>C
c.1143G>C
c.1052G>C
c.1180G>C (p.Glu394Gln)
c.24193G>C (p.Glu8065Gln)
n.2156G>C
c.4243G>C (p.Glu1415Gln)
n.9100G>C
c.3346G>C (p.Glu1116Gln)
n.8992G>C
n.2022G>C
n.4430G>C
n.2245G>C
c.1873G>C (p.Glu625Gln)
c.25513G>C (p.Glu8505Gln)
c.25501G>C (p.Glu8501Gln)
c.25492G>C (p.Glu8498Gln)
c.25462G>C (p.Glu8488Gln)
c.25498G>C (p.Glu8500Gln)
c.25444G>C (p.Glu8482Gln)
c.25441G>C (p.Glu8481Gln)
c.25429G>C (p.Glu8477Gln)
c.25372G>C (p.Glu8458Gln)
c.25360G>C (p.Glu8454Gln)
c.25357G>C (p.Glu8453Gln)
c.25354G>C (p.Glu8452Gln)
c.25510G>C (p.Glu8504Gln)
c.25348G>C (p.Glu8450Gln)
c.23788G>C (p.Glu7930Gln)
c.23281G>C (p.Glu7761Gln)
c.18748G>C (p.Glu6250Gln)
c.2014G>C (p.Glu672Gln)
c.25486G>C (p.Glu8496Gln)
c.25435G>C (p.Glu8479Gln)
c.25288G>C (p.Glu8430Gln)
6g.152140000C>TCA366080113SYNE1c.1942G>A (p.Glu648Lys)
c.25408G>A (p.Glu8470Lys)
c.25264G>A (p.Glu8422Lys)
c.810G>A
c.1143G>A
c.1052G>A
c.1180G>A (p.Glu394Lys)
c.24193G>A (p.Glu8065Lys)
n.2156G>A
c.4243G>A (p.Glu1415Lys)
n.9100G>A
c.3346G>A (p.Glu1116Lys)
n.8992G>A
n.2022G>A
n.4430G>A
n.2245G>A
c.1873G>A (p.Glu625Lys)
c.25513G>A (p.Glu8505Lys)
c.25501G>A (p.Glu8501Lys)
c.25492G>A (p.Glu8498Lys)
c.25462G>A (p.Glu8488Lys)
c.25498G>A (p.Glu8500Lys)
c.25444G>A (p.Glu8482Lys)
c.25441G>A (p.Glu8481Lys)
c.25429G>A (p.Glu8477Lys)
c.25372G>A (p.Glu8458Lys)
c.25360G>A (p.Glu8454Lys)
c.25357G>A (p.Glu8453Lys)
c.25354G>A (p.Glu8452Lys)
c.25510G>A (p.Glu8504Lys)
c.25348G>A (p.Glu8450Lys)
c.23788G>A (p.Glu7930Lys)
c.23281G>A (p.Glu7761Lys)
c.18748G>A (p.Glu6250Lys)
c.2014G>A (p.Glu672Lys)
c.25486G>A (p.Glu8496Lys)
c.25435G>A (p.Glu8479Lys)
c.25288G>A (p.Glu8430Lys)
 gnomAD v4
6g.152140001C>ACA452969825SYNE1c.1941G>T (p.Leu647=)
c.25407G>T (p.Leu8469=)
c.25263G>T (p.Leu8421=)
c.809G>T
c.1142G>T
c.1051G>T
c.1179G>T (p.Leu393=)
c.24192G>T (p.Leu8064=)
n.2155G>T
c.4242G>T (p.Leu1414=)
n.9099G>T
c.3345G>T (p.Leu1115=)
n.8991G>T
n.2021G>T
n.4429G>T
n.2244G>T
c.1872G>T (p.Leu624=)
c.25512G>T (p.Leu8504=)
c.25500G>T (p.Leu8500=)
c.25491G>T (p.Leu8497=)
c.25461G>T (p.Leu8487=)
c.25497G>T (p.Leu8499=)
c.25443G>T (p.Leu8481=)
c.25440G>T (p.Leu8480=)
c.25428G>T (p.Leu8476=)
c.25371G>T (p.Leu8457=)
c.25359G>T (p.Leu8453=)
c.25356G>T (p.Leu8452=)
c.25353G>T (p.Leu8451=)
c.25509G>T (p.Leu8503=)
c.25347G>T (p.Leu8449=)
c.23787G>T (p.Leu7929=)
c.23280G>T (p.Leu7760=)
c.18747G>T (p.Leu6249=)
c.2013G>T (p.Leu671=)
c.25485G>T (p.Leu8495=)
c.25434G>T (p.Leu8478=)
c.25287G>T (p.Leu8429=)
6g.152140001C=CA1673206199SYNE1c.1941G= (p.Leu647=)
c.25407G= (p.Leu8469=)
c.25263G= (p.Leu8421=)
c.809G=
c.1142G=
c.1051G=
c.1179G= (p.Leu393=)
c.24192G= (p.Leu8064=)
n.2155G=
c.4242G= (p.Leu1414=)
n.9099G=
c.3345G= (p.Leu1115=)
n.8991G=
n.2021G=
n.4429G=
n.2244G=
c.1872G= (p.Leu624=)
c.25512G= (p.Leu8504=)
c.25500G= (p.Leu8500=)
c.25491G= (p.Leu8497=)
c.25461G= (p.Leu8487=)
c.25497G= (p.Leu8499=)
c.25443G= (p.Leu8481=)
c.25440G= (p.Leu8480=)
c.25428G= (p.Leu8476=)
c.25371G= (p.Leu8457=)
c.25359G= (p.Leu8453=)
c.25356G= (p.Leu8452=)
c.25353G= (p.Leu8451=)
c.25509G= (p.Leu8503=)
c.25347G= (p.Leu8449=)
c.23787G= (p.Leu7929=)
c.23280G= (p.Leu7760=)
c.18747G= (p.Leu6249=)
c.2013G= (p.Leu671=)
c.25485G= (p.Leu8495=)
c.25434G= (p.Leu8478=)
c.25287G= (p.Leu8429=)
6g.152140001C>GCA452969826SYNE1c.1941G>C (p.Leu647=)
c.25407G>C (p.Leu8469=)
c.25263G>C (p.Leu8421=)
c.809G>C
c.1142G>C
c.1051G>C
c.1179G>C (p.Leu393=)
c.24192G>C (p.Leu8064=)
n.2155G>C
c.4242G>C (p.Leu1414=)
n.9099G>C
c.3345G>C (p.Leu1115=)
n.8991G>C
n.2021G>C
n.4429G>C
n.2244G>C
c.1872G>C (p.Leu624=)
c.25512G>C (p.Leu8504=)
c.25500G>C (p.Leu8500=)
c.25491G>C (p.Leu8497=)
c.25461G>C (p.Leu8487=)
c.25497G>C (p.Leu8499=)
c.25443G>C (p.Leu8481=)
c.25440G>C (p.Leu8480=)
c.25428G>C (p.Leu8476=)
c.25371G>C (p.Leu8457=)
c.25359G>C (p.Leu8453=)
c.25356G>C (p.Leu8452=)
c.25353G>C (p.Leu8451=)
c.25509G>C (p.Leu8503=)
c.25347G>C (p.Leu8449=)
c.23787G>C (p.Leu7929=)
c.23280G>C (p.Leu7760=)
c.18747G>C (p.Leu6249=)
c.2013G>C (p.Leu671=)
c.25485G>C (p.Leu8495=)
c.25434G>C (p.Leu8478=)
c.25287G>C (p.Leu8429=)
6g.152140001C>TCA452969827SYNE1c.1941G>A (p.Leu647=)
c.25407G>A (p.Leu8469=)
c.25263G>A (p.Leu8421=)
c.809G>A
c.1142G>A
c.1051G>A
c.1179G>A (p.Leu393=)
c.24192G>A (p.Leu8064=)
n.2155G>A
c.4242G>A (p.Leu1414=)
n.9099G>A
c.3345G>A (p.Leu1115=)
n.8991G>A
n.2021G>A
n.4429G>A
n.2244G>A
c.1872G>A (p.Leu624=)
c.25512G>A (p.Leu8504=)
c.25500G>A (p.Leu8500=)
c.25491G>A (p.Leu8497=)
c.25461G>A (p.Leu8487=)
c.25497G>A (p.Leu8499=)
c.25443G>A (p.Leu8481=)
c.25440G>A (p.Leu8480=)
c.25428G>A (p.Leu8476=)
c.25371G>A (p.Leu8457=)
c.25359G>A (p.Leu8453=)
c.25356G>A (p.Leu8452=)
c.25353G>A (p.Leu8451=)
c.25509G>A (p.Leu8503=)
c.25347G>A (p.Leu8449=)
c.23787G>A (p.Leu7929=)
c.23280G>A (p.Leu7760=)
c.18747G>A (p.Leu6249=)
c.2013G>A (p.Leu671=)
c.25485G>A (p.Leu8495=)
c.25434G>A (p.Leu8478=)
c.25287G>A (p.Leu8429=)
 dbSNP gnomAD v4
6g.152140002A>CCA366080115SYNE1c.1940T>G (p.Leu647Arg)
c.25406T>G (p.Leu8469Arg)
c.25262T>G (p.Leu8421Arg)
c.808T>G
c.1141T>G
c.1050T>G
c.1178T>G (p.Leu393Arg)
c.24191T>G (p.Leu8064Arg)
n.2154T>G
c.4241T>G (p.Leu1414Arg)
n.9098T>G
c.3344T>G (p.Leu1115Arg)
n.8990T>G
n.2020T>G
n.4428T>G
n.2243T>G
c.1871T>G (p.Leu624Arg)
c.25511T>G (p.Leu8504Arg)
c.25499T>G (p.Leu8500Arg)
c.25490T>G (p.Leu8497Arg)
c.25460T>G (p.Leu8487Arg)
c.25496T>G (p.Leu8499Arg)
c.25442T>G (p.Leu8481Arg)
c.25439T>G (p.Leu8480Arg)
c.25427T>G (p.Leu8476Arg)
c.25370T>G (p.Leu8457Arg)
c.25358T>G (p.Leu8453Arg)
c.25355T>G (p.Leu8452Arg)
c.25352T>G (p.Leu8451Arg)
c.25508T>G (p.Leu8503Arg)
c.25346T>G (p.Leu8449Arg)
c.23786T>G (p.Leu7929Arg)
c.23279T>G (p.Leu7760Arg)
c.18746T>G (p.Leu6249Arg)
c.2012T>G (p.Leu671Arg)
c.25484T>G (p.Leu8495Arg)
c.25433T>G (p.Leu8478Arg)
c.25286T>G (p.Leu8429Arg)
6g.152140002A>GCA366080116SYNE1c.1940T>C (p.Leu647Pro)
c.25406T>C (p.Leu8469Pro)
c.25262T>C (p.Leu8421Pro)
c.808T>C
c.1141T>C
c.1050T>C
c.1178T>C (p.Leu393Pro)
c.24191T>C (p.Leu8064Pro)
n.2154T>C
c.4241T>C (p.Leu1414Pro)
n.9098T>C
c.3344T>C (p.Leu1115Pro)
n.8990T>C
n.2020T>C
n.4428T>C
n.2243T>C
c.1871T>C (p.Leu624Pro)
c.25511T>C (p.Leu8504Pro)
c.25499T>C (p.Leu8500Pro)
c.25490T>C (p.Leu8497Pro)
c.25460T>C (p.Leu8487Pro)
c.25496T>C (p.Leu8499Pro)
c.25442T>C (p.Leu8481Pro)
c.25439T>C (p.Leu8480Pro)
c.25427T>C (p.Leu8476Pro)
c.25370T>C (p.Leu8457Pro)
c.25358T>C (p.Leu8453Pro)
c.25355T>C (p.Leu8452Pro)
c.25352T>C (p.Leu8451Pro)
c.25508T>C (p.Leu8503Pro)
c.25346T>C (p.Leu8449Pro)
c.23786T>C (p.Leu7929Pro)
c.23279T>C (p.Leu7760Pro)
c.18746T>C (p.Leu6249Pro)
c.2012T>C (p.Leu671Pro)
c.25484T>C (p.Leu8495Pro)
c.25433T>C (p.Leu8478Pro)
c.25286T>C (p.Leu8429Pro)
6g.152140002A>TCA366080114SYNE1c.1940T>A (p.Leu647Gln)
c.25406T>A (p.Leu8469Gln)
c.25262T>A (p.Leu8421Gln)
c.808T>A
c.1141T>A
c.1050T>A
c.1178T>A (p.Leu393Gln)
c.24191T>A (p.Leu8064Gln)
n.2154T>A
c.4241T>A (p.Leu1414Gln)
n.9098T>A
c.3344T>A (p.Leu1115Gln)
n.8990T>A
n.2020T>A
n.4428T>A
n.2243T>A
c.1871T>A (p.Leu624Gln)
c.25511T>A (p.Leu8504Gln)
c.25499T>A (p.Leu8500Gln)
c.25490T>A (p.Leu8497Gln)
c.25460T>A (p.Leu8487Gln)
c.25496T>A (p.Leu8499Gln)
c.25442T>A (p.Leu8481Gln)
c.25439T>A (p.Leu8480Gln)
c.25427T>A (p.Leu8476Gln)
c.25370T>A (p.Leu8457Gln)
c.25358T>A (p.Leu8453Gln)
c.25355T>A (p.Leu8452Gln)
c.25352T>A (p.Leu8451Gln)
c.25508T>A (p.Leu8503Gln)
c.25346T>A (p.Leu8449Gln)
c.23786T>A (p.Leu7929Gln)
c.23279T>A (p.Leu7760Gln)
c.18746T>A (p.Leu6249Gln)
c.2012T>A (p.Leu671Gln)
c.25484T>A (p.Leu8495Gln)
c.25433T>A (p.Leu8478Gln)
c.25286T>A (p.Leu8429Gln)
6g.152140003G>ACA452969828SYNE1c.1939C>T (p.Leu647=)
c.25405C>T (p.Leu8469=)
c.25261C>T (p.Leu8421=)
c.807C>T
c.1140C>T
c.1049C>T
c.1177C>T (p.Leu393=)
c.24190C>T (p.Leu8064=)
n.2153C>T
c.4240C>T (p.Leu1414=)
n.9097C>T
c.3343C>T (p.Leu1115=)
n.8989C>T
n.2019C>T
n.4427C>T
n.2242C>T
c.1870C>T (p.Leu624=)
c.25510C>T (p.Leu8504=)
c.25498C>T (p.Leu8500=)
c.25489C>T (p.Leu8497=)
c.25459C>T (p.Leu8487=)
c.25495C>T (p.Leu8499=)
c.25441C>T (p.Leu8481=)
c.25438C>T (p.Leu8480=)
c.25426C>T (p.Leu8476=)
c.25369C>T (p.Leu8457=)
c.25357C>T (p.Leu8453=)
c.25354C>T (p.Leu8452=)
c.25351C>T (p.Leu8451=)
c.25507C>T (p.Leu8503=)
c.25345C>T (p.Leu8449=)
c.23785C>T (p.Leu7929=)
c.23278C>T (p.Leu7760=)
c.18745C>T (p.Leu6249=)
c.2011C>T (p.Leu671=)
c.25483C>T (p.Leu8495=)
c.25432C>T (p.Leu8478=)
c.25285C>T (p.Leu8429=)
 dbSNP
6g.152140003G>CCA366080117SYNE1c.1939C>G (p.Leu647Val)
c.25405C>G (p.Leu8469Val)
c.25261C>G (p.Leu8421Val)
c.807C>G
c.1140C>G
c.1049C>G
c.1177C>G (p.Leu393Val)
c.24190C>G (p.Leu8064Val)
n.2153C>G
c.4240C>G (p.Leu1414Val)
n.9097C>G
c.3343C>G (p.Leu1115Val)
n.8989C>G
n.2019C>G
n.4427C>G
n.2242C>G
c.1870C>G (p.Leu624Val)
c.25510C>G (p.Leu8504Val)
c.25498C>G (p.Leu8500Val)
c.25489C>G (p.Leu8497Val)
c.25459C>G (p.Leu8487Val)
c.25495C>G (p.Leu8499Val)
c.25441C>G (p.Leu8481Val)
c.25438C>G (p.Leu8480Val)
c.25426C>G (p.Leu8476Val)
c.25369C>G (p.Leu8457Val)
c.25357C>G (p.Leu8453Val)
c.25354C>G (p.Leu8452Val)
c.25351C>G (p.Leu8451Val)
c.25507C>G (p.Leu8503Val)
c.25345C>G (p.Leu8449Val)
c.23785C>G (p.Leu7929Val)
c.23278C>G (p.Leu7760Val)
c.18745C>G (p.Leu6249Val)
c.2011C>G (p.Leu671Val)
c.25483C>G (p.Leu8495Val)
c.25432C>G (p.Leu8478Val)
c.25285C>G (p.Leu8429Val)
 dbSNP
6g.152140003G=CA1673206204SYNE1c.1939C= (p.Leu647=)
c.25405C= (p.Leu8469=)
c.25261C= (p.Leu8421=)
c.807C=
c.1140C=
c.1049C=
c.1177C= (p.Leu393=)
c.24190C= (p.Leu8064=)
n.2153C=
c.4240C= (p.Leu1414=)
n.9097C=
c.3343C= (p.Leu1115=)
n.8989C=
n.2019C=
n.4427C=
n.2242C=
c.1870C= (p.Leu624=)
c.25510C= (p.Leu8504=)
c.25498C= (p.Leu8500=)
c.25489C= (p.Leu8497=)
c.25459C= (p.Leu8487=)
c.25495C= (p.Leu8499=)
c.25441C= (p.Leu8481=)
c.25438C= (p.Leu8480=)
c.25426C= (p.Leu8476=)
c.25369C= (p.Leu8457=)
c.25357C= (p.Leu8453=)
c.25354C= (p.Leu8452=)
c.25351C= (p.Leu8451=)
c.25507C= (p.Leu8503=)
c.25345C= (p.Leu8449=)
c.23785C= (p.Leu7929=)
c.23278C= (p.Leu7760=)
c.18745C= (p.Leu6249=)
c.2011C= (p.Leu671=)
c.25483C= (p.Leu8495=)
c.25432C= (p.Leu8478=)
c.25285C= (p.Leu8429=)
6g.152140003G>TCA366080118SYNE1c.1939C>A (p.Leu647Met)
c.25405C>A (p.Leu8469Met)
c.25261C>A (p.Leu8421Met)
c.807C>A
c.1140C>A
c.1049C>A
c.1177C>A (p.Leu393Met)
c.24190C>A (p.Leu8064Met)
n.2153C>A
c.4240C>A (p.Leu1414Met)
n.9097C>A
c.3343C>A (p.Leu1115Met)
n.8989C>A
n.2019C>A
n.4427C>A
n.2242C>A
c.1870C>A (p.Leu624Met)
c.25510C>A (p.Leu8504Met)
c.25498C>A (p.Leu8500Met)
c.25489C>A (p.Leu8497Met)
c.25459C>A (p.Leu8487Met)
c.25495C>A (p.Leu8499Met)
c.25441C>A (p.Leu8481Met)
c.25438C>A (p.Leu8480Met)
c.25426C>A (p.Leu8476Met)
c.25369C>A (p.Leu8457Met)
c.25357C>A (p.Leu8453Met)
c.25354C>A (p.Leu8452Met)
c.25351C>A (p.Leu8451Met)
c.25507C>A (p.Leu8503Met)
c.25345C>A (p.Leu8449Met)
c.23785C>A (p.Leu7929Met)
c.23278C>A (p.Leu7760Met)
c.18745C>A (p.Leu6249Met)
c.2011C>A (p.Leu671Met)
c.25483C>A (p.Leu8495Met)
c.25432C>A (p.Leu8478Met)
c.25285C>A (p.Leu8429Met)
6g.152140004A=CA1673206206SYNE1c.1938T= (p.Arg646=)
c.25404T= (p.Arg8468=)
c.25260T= (p.Arg8420=)
c.806T=
c.1139T=
c.1048T=
c.1176T= (p.Arg392=)
c.24189T= (p.Arg8063=)
n.2152T=
c.4239T= (p.Arg1413=)
n.9096T=
c.3342T= (p.Arg1114=)
n.8988T=
n.2018T=
n.4426T=
n.2241T=
c.1869T= (p.Arg623=)
c.25509T= (p.Arg8503=)
c.25497T= (p.Arg8499=)
c.25488T= (p.Arg8496=)
c.25458T= (p.Arg8486=)
c.25494T= (p.Arg8498=)
c.25440T= (p.Arg8480=)
c.25437T= (p.Arg8479=)
c.25425T= (p.Arg8475=)
c.25368T= (p.Arg8456=)
c.25356T= (p.Arg8452=)
c.25353T= (p.Arg8451=)
c.25350T= (p.Arg8450=)
c.25506T= (p.Arg8502=)
c.25344T= (p.Arg8448=)
c.23784T= (p.Arg7928=)
c.23277T= (p.Arg7759=)
c.18744T= (p.Arg6248=)
c.2010T= (p.Arg670=)
c.25482T= (p.Arg8494=)
c.25431T= (p.Arg8477=)
c.25284T= (p.Arg8428=)
6g.152140004A>CCA452969830SYNE1c.1938T>G (p.Arg646=)
c.25404T>G (p.Arg8468=)
c.25260T>G (p.Arg8420=)
c.806T>G
c.1139T>G
c.1048T>G
c.1176T>G (p.Arg392=)
c.24189T>G (p.Arg8063=)
n.2152T>G
c.4239T>G (p.Arg1413=)
n.9096T>G
c.3342T>G (p.Arg1114=)
n.8988T>G
n.2018T>G
n.4426T>G
n.2241T>G
c.1869T>G (p.Arg623=)
c.25509T>G (p.Arg8503=)
c.25497T>G (p.Arg8499=)
c.25488T>G (p.Arg8496=)
c.25458T>G (p.Arg8486=)
c.25494T>G (p.Arg8498=)
c.25440T>G (p.Arg8480=)
c.25437T>G (p.Arg8479=)
c.25425T>G (p.Arg8475=)
c.25368T>G (p.Arg8456=)
c.25356T>G (p.Arg8452=)
c.25353T>G (p.Arg8451=)
c.25350T>G (p.Arg8450=)
c.25506T>G (p.Arg8502=)
c.25344T>G (p.Arg8448=)
c.23784T>G (p.Arg7928=)
c.23277T>G (p.Arg7759=)
c.18744T>G (p.Arg6248=)
c.2010T>G (p.Arg670=)
c.25482T>G (p.Arg8494=)
c.25431T>G (p.Arg8477=)
c.25284T>G (p.Arg8428=)
6g.152140004A>GCA4052851SYNE1c.1938T>C (p.Arg646=)
c.25404T>C (p.Arg8468=)
c.25260T>C (p.Arg8420=)
c.806T>C
c.1139T>C
c.1048T>C
c.1176T>C (p.Arg392=)
c.24189T>C (p.Arg8063=)
n.2152T>C
c.4239T>C (p.Arg1413=)
n.9096T>C
c.3342T>C (p.Arg1114=)
n.8988T>C
n.2018T>C
n.4426T>C
n.2241T>C
c.1869T>C (p.Arg623=)
c.25509T>C (p.Arg8503=)
c.25497T>C (p.Arg8499=)
c.25488T>C (p.Arg8496=)
c.25458T>C (p.Arg8486=)
c.25494T>C (p.Arg8498=)
c.25440T>C (p.Arg8480=)
c.25437T>C (p.Arg8479=)
c.25425T>C (p.Arg8475=)
c.25368T>C (p.Arg8456=)
c.25356T>C (p.Arg8452=)
c.25353T>C (p.Arg8451=)
c.25350T>C (p.Arg8450=)
c.25506T>C (p.Arg8502=)
c.25344T>C (p.Arg8448=)
c.23784T>C (p.Arg7928=)
c.23277T>C (p.Arg7759=)
c.18744T>C (p.Arg6248=)
c.2010T>C (p.Arg670=)
c.25482T>C (p.Arg8494=)
c.25431T>C (p.Arg8477=)
c.25284T>C (p.Arg8428=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140004A>TCA452969831SYNE1c.1938T>A (p.Arg646=)
c.25404T>A (p.Arg8468=)
c.25260T>A (p.Arg8420=)
c.806T>A
c.1139T>A
c.1048T>A
c.1176T>A (p.Arg392=)
c.24189T>A (p.Arg8063=)
n.2152T>A
c.4239T>A (p.Arg1413=)
n.9096T>A
c.3342T>A (p.Arg1114=)
n.8988T>A
n.2018T>A
n.4426T>A
n.2241T>A
c.1869T>A (p.Arg623=)
c.25509T>A (p.Arg8503=)
c.25497T>A (p.Arg8499=)
c.25488T>A (p.Arg8496=)
c.25458T>A (p.Arg8486=)
c.25494T>A (p.Arg8498=)
c.25440T>A (p.Arg8480=)
c.25437T>A (p.Arg8479=)
c.25425T>A (p.Arg8475=)
c.25368T>A (p.Arg8456=)
c.25356T>A (p.Arg8452=)
c.25353T>A (p.Arg8451=)
c.25350T>A (p.Arg8450=)
c.25506T>A (p.Arg8502=)
c.25344T>A (p.Arg8448=)
c.23784T>A (p.Arg7928=)
c.23277T>A (p.Arg7759=)
c.18744T>A (p.Arg6248=)
c.2010T>A (p.Arg670=)
c.25482T>A (p.Arg8494=)
c.25431T>A (p.Arg8477=)
c.25284T>A (p.Arg8428=)
6g.152140005C>ACA366080121SYNE1c.1937G>T (p.Arg646Leu)
c.25403G>T (p.Arg8468Leu)
c.25259G>T (p.Arg8420Leu)
c.805G>T
c.1138G>T
c.1047G>T
c.1175G>T (p.Arg392Leu)
c.24188G>T (p.Arg8063Leu)
n.2151G>T
c.4238G>T (p.Arg1413Leu)
n.9095G>T
c.3341G>T (p.Arg1114Leu)
n.8987G>T
n.2017G>T
n.4425G>T
n.2240G>T
c.1868G>T (p.Arg623Leu)
c.25508G>T (p.Arg8503Leu)
c.25496G>T (p.Arg8499Leu)
c.25487G>T (p.Arg8496Leu)
c.25457G>T (p.Arg8486Leu)
c.25493G>T (p.Arg8498Leu)
c.25439G>T (p.Arg8480Leu)
c.25436G>T (p.Arg8479Leu)
c.25424G>T (p.Arg8475Leu)
c.25367G>T (p.Arg8456Leu)
c.25355G>T (p.Arg8452Leu)
c.25352G>T (p.Arg8451Leu)
c.25349G>T (p.Arg8450Leu)
c.25505G>T (p.Arg8502Leu)
c.25343G>T (p.Arg8448Leu)
c.23783G>T (p.Arg7928Leu)
c.23276G>T (p.Arg7759Leu)
c.18743G>T (p.Arg6248Leu)
c.2009G>T (p.Arg670Leu)
c.25481G>T (p.Arg8494Leu)
c.25430G>T (p.Arg8477Leu)
c.25283G>T (p.Arg8428Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.152140005C=CA1673206213SYNE1c.1937G= (p.Arg646=)
c.25403G= (p.Arg8468=)
c.25259G= (p.Arg8420=)
c.805G=
c.1138G=
c.1047G=
c.1175G= (p.Arg392=)
c.24188G= (p.Arg8063=)
n.2151G=
c.4238G= (p.Arg1413=)
n.9095G=
c.3341G= (p.Arg1114=)
n.8987G=
n.2017G=
n.4425G=
n.2240G=
c.1868G= (p.Arg623=)
c.25508G= (p.Arg8503=)
c.25496G= (p.Arg8499=)
c.25487G= (p.Arg8496=)
c.25457G= (p.Arg8486=)
c.25493G= (p.Arg8498=)
c.25439G= (p.Arg8480=)
c.25436G= (p.Arg8479=)
c.25424G= (p.Arg8475=)
c.25367G= (p.Arg8456=)
c.25355G= (p.Arg8452=)
c.25352G= (p.Arg8451=)
c.25349G= (p.Arg8450=)
c.25505G= (p.Arg8502=)
c.25343G= (p.Arg8448=)
c.23783G= (p.Arg7928=)
c.23276G= (p.Arg7759=)
c.18743G= (p.Arg6248=)
c.2009G= (p.Arg670=)
c.25481G= (p.Arg8494=)
c.25430G= (p.Arg8477=)
c.25283G= (p.Arg8428=)
6g.152140005C>GCA366080122SYNE1c.1937G>C (p.Arg646Pro)
c.25403G>C (p.Arg8468Pro)
c.25259G>C (p.Arg8420Pro)
c.805G>C
c.1138G>C
c.1047G>C
c.1175G>C (p.Arg392Pro)
c.24188G>C (p.Arg8063Pro)
n.2151G>C
c.4238G>C (p.Arg1413Pro)
n.9095G>C
c.3341G>C (p.Arg1114Pro)
n.8987G>C
n.2017G>C
n.4425G>C
n.2240G>C
c.1868G>C (p.Arg623Pro)
c.25508G>C (p.Arg8503Pro)
c.25496G>C (p.Arg8499Pro)
c.25487G>C (p.Arg8496Pro)
c.25457G>C (p.Arg8486Pro)
c.25493G>C (p.Arg8498Pro)
c.25439G>C (p.Arg8480Pro)
c.25436G>C (p.Arg8479Pro)
c.25424G>C (p.Arg8475Pro)
c.25367G>C (p.Arg8456Pro)
c.25355G>C (p.Arg8452Pro)
c.25352G>C (p.Arg8451Pro)
c.25349G>C (p.Arg8450Pro)
c.25505G>C (p.Arg8502Pro)
c.25343G>C (p.Arg8448Pro)
c.23783G>C (p.Arg7928Pro)
c.23276G>C (p.Arg7759Pro)
c.18743G>C (p.Arg6248Pro)
c.2009G>C (p.Arg670Pro)
c.25481G>C (p.Arg8494Pro)
c.25430G>C (p.Arg8477Pro)
c.25283G>C (p.Arg8428Pro)
6g.152140005C>TCA4052852SYNE1c.1937G>A (p.Arg646His)
c.25403G>A (p.Arg8468His)
c.25259G>A (p.Arg8420His)
c.805G>A
c.1138G>A
c.1047G>A
c.1175G>A (p.Arg392His)
c.24188G>A (p.Arg8063His)
n.2151G>A
c.4238G>A (p.Arg1413His)
n.9095G>A
c.3341G>A (p.Arg1114His)
n.8987G>A
n.2017G>A
n.4425G>A
n.2240G>A
c.1868G>A (p.Arg623His)
c.25508G>A (p.Arg8503His)
c.25496G>A (p.Arg8499His)
c.25487G>A (p.Arg8496His)
c.25457G>A (p.Arg8486His)
c.25493G>A (p.Arg8498His)
c.25439G>A (p.Arg8480His)
c.25436G>A (p.Arg8479His)
c.25424G>A (p.Arg8475His)
c.25367G>A (p.Arg8456His)
c.25355G>A (p.Arg8452His)
c.25352G>A (p.Arg8451His)
c.25349G>A (p.Arg8450His)
c.25505G>A (p.Arg8502His)
c.25343G>A (p.Arg8448His)
c.23783G>A (p.Arg7928His)
c.23276G>A (p.Arg7759His)
c.18743G>A (p.Arg6248His)
c.2009G>A (p.Arg670His)
c.25481G>A (p.Arg8494His)
c.25430G>A (p.Arg8477His)
c.25283G>A (p.Arg8428His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140006G>ACA4052853SYNE1c.1936C>T (p.Arg646Cys)
c.25402C>T (p.Arg8468Cys)
c.25258C>T (p.Arg8420Cys)
c.804C>T
c.1137C>T
c.1046C>T
c.1174C>T (p.Arg392Cys)
c.24187C>T (p.Arg8063Cys)
n.2150C>T
c.4237C>T (p.Arg1413Cys)
n.9094C>T
c.3340C>T (p.Arg1114Cys)
n.8986C>T
n.2016C>T
n.4424C>T
n.2239C>T
c.1867C>T (p.Arg623Cys)
c.25507C>T (p.Arg8503Cys)
c.25495C>T (p.Arg8499Cys)
c.25486C>T (p.Arg8496Cys)
c.25456C>T (p.Arg8486Cys)
c.25492C>T (p.Arg8498Cys)
c.25438C>T (p.Arg8480Cys)
c.25435C>T (p.Arg8479Cys)
c.25423C>T (p.Arg8475Cys)
c.25366C>T (p.Arg8456Cys)
c.25354C>T (p.Arg8452Cys)
c.25351C>T (p.Arg8451Cys)
c.25348C>T (p.Arg8450Cys)
c.25504C>T (p.Arg8502Cys)
c.25342C>T (p.Arg8448Cys)
c.23782C>T (p.Arg7928Cys)
c.23275C>T (p.Arg7759Cys)
c.18742C>T (p.Arg6248Cys)
c.2008C>T (p.Arg670Cys)
c.25480C>T (p.Arg8494Cys)
c.25429C>T (p.Arg8477Cys)
c.25282C>T (p.Arg8428Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140006G>CCA366080125SYNE1c.1936C>G (p.Arg646Gly)
c.25402C>G (p.Arg8468Gly)
c.25258C>G (p.Arg8420Gly)
c.804C>G
c.1137C>G
c.1046C>G
c.1174C>G (p.Arg392Gly)
c.24187C>G (p.Arg8063Gly)
n.2150C>G
c.4237C>G (p.Arg1413Gly)
n.9094C>G
c.3340C>G (p.Arg1114Gly)
n.8986C>G
n.2016C>G
n.4424C>G
n.2239C>G
c.1867C>G (p.Arg623Gly)
c.25507C>G (p.Arg8503Gly)
c.25495C>G (p.Arg8499Gly)
c.25486C>G (p.Arg8496Gly)
c.25456C>G (p.Arg8486Gly)
c.25492C>G (p.Arg8498Gly)
c.25438C>G (p.Arg8480Gly)
c.25435C>G (p.Arg8479Gly)
c.25423C>G (p.Arg8475Gly)
c.25366C>G (p.Arg8456Gly)
c.25354C>G (p.Arg8452Gly)
c.25351C>G (p.Arg8451Gly)
c.25348C>G (p.Arg8450Gly)
c.25504C>G (p.Arg8502Gly)
c.25342C>G (p.Arg8448Gly)
c.23782C>G (p.Arg7928Gly)
c.23275C>G (p.Arg7759Gly)
c.18742C>G (p.Arg6248Gly)
c.2008C>G (p.Arg670Gly)
c.25480C>G (p.Arg8494Gly)
c.25429C>G (p.Arg8477Gly)
c.25282C>G (p.Arg8428Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140006G=CA1673206218SYNE1c.1936C= (p.Arg646=)
c.25402C= (p.Arg8468=)
c.25258C= (p.Arg8420=)
c.804C=
c.1137C=
c.1046C=
c.1174C= (p.Arg392=)
c.24187C= (p.Arg8063=)
n.2150C=
c.4237C= (p.Arg1413=)
n.9094C=
c.3340C= (p.Arg1114=)
n.8986C=
n.2016C=
n.4424C=
n.2239C=
c.1867C= (p.Arg623=)
c.25507C= (p.Arg8503=)
c.25495C= (p.Arg8499=)
c.25486C= (p.Arg8496=)
c.25456C= (p.Arg8486=)
c.25492C= (p.Arg8498=)
c.25438C= (p.Arg8480=)
c.25435C= (p.Arg8479=)
c.25423C= (p.Arg8475=)
c.25366C= (p.Arg8456=)
c.25354C= (p.Arg8452=)
c.25351C= (p.Arg8451=)
c.25348C= (p.Arg8450=)
c.25504C= (p.Arg8502=)
c.25342C= (p.Arg8448=)
c.23782C= (p.Arg7928=)
c.23275C= (p.Arg7759=)
c.18742C= (p.Arg6248=)
c.2008C= (p.Arg670=)
c.25480C= (p.Arg8494=)
c.25429C= (p.Arg8477=)
c.25282C= (p.Arg8428=)
6g.152140006G>TCA366080127SYNE1c.1936C>A (p.Arg646Ser)
c.25402C>A (p.Arg8468Ser)
c.25258C>A (p.Arg8420Ser)
c.804C>A
c.1137C>A
c.1046C>A
c.1174C>A (p.Arg392Ser)
c.24187C>A (p.Arg8063Ser)
n.2150C>A
c.4237C>A (p.Arg1413Ser)
n.9094C>A
c.3340C>A (p.Arg1114Ser)
n.8986C>A
n.2016C>A
n.4424C>A
n.2239C>A
c.1867C>A (p.Arg623Ser)
c.25507C>A (p.Arg8503Ser)
c.25495C>A (p.Arg8499Ser)
c.25486C>A (p.Arg8496Ser)
c.25456C>A (p.Arg8486Ser)
c.25492C>A (p.Arg8498Ser)
c.25438C>A (p.Arg8480Ser)
c.25435C>A (p.Arg8479Ser)
c.25423C>A (p.Arg8475Ser)
c.25366C>A (p.Arg8456Ser)
c.25354C>A (p.Arg8452Ser)
c.25351C>A (p.Arg8451Ser)
c.25348C>A (p.Arg8450Ser)
c.25504C>A (p.Arg8502Ser)
c.25342C>A (p.Arg8448Ser)
c.23782C>A (p.Arg7928Ser)
c.23275C>A (p.Arg7759Ser)
c.18742C>A (p.Arg6248Ser)
c.2008C>A (p.Arg670Ser)
c.25480C>A (p.Arg8494Ser)
c.25429C>A (p.Arg8477Ser)
c.25282C>A (p.Arg8428Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140007C>ACA366080129SYNE1c.1935G>T (p.Gln645His)
c.25401G>T (p.Gln8467His)
c.25257G>T (p.Gln8419His)
c.803G>T
c.1136G>T
c.1045G>T
c.1173G>T (p.Gln391His)
c.24186G>T (p.Gln8062His)
n.2149G>T
c.4236G>T (p.Gln1412His)
n.9093G>T
c.3339G>T (p.Gln1113His)
n.8985G>T
n.2015G>T
n.4423G>T
n.2238G>T
c.1866G>T (p.Gln622His)
c.25506G>T (p.Gln8502His)
c.25494G>T (p.Gln8498His)
c.25485G>T (p.Gln8495His)
c.25455G>T (p.Gln8485His)
c.25491G>T (p.Gln8497His)
c.25437G>T (p.Gln8479His)
c.25434G>T (p.Gln8478His)
c.25422G>T (p.Gln8474His)
c.25365G>T (p.Gln8455His)
c.25353G>T (p.Gln8451His)
c.25350G>T (p.Gln8450His)
c.25347G>T (p.Gln8449His)
c.25503G>T (p.Gln8501His)
c.25341G>T (p.Gln8447His)
c.23781G>T (p.Gln7927His)
c.23274G>T (p.Gln7758His)
c.18741G>T (p.Gln6247His)
c.2007G>T (p.Gln669His)
c.25479G>T (p.Gln8493His)
c.25428G>T (p.Gln8476His)
c.25281G>T (p.Gln8427His)
6g.152140007C=CA1673206227SYNE1c.1935G= (p.Gln645=)
c.25401G= (p.Gln8467=)
c.25257G= (p.Gln8419=)
c.803G=
c.1136G=
c.1045G=
c.1173G= (p.Gln391=)
c.24186G= (p.Gln8062=)
n.2149G=
c.4236G= (p.Gln1412=)
n.9093G=
c.3339G= (p.Gln1113=)
n.8985G=
n.2015G=
n.4423G=
n.2238G=
c.1866G= (p.Gln622=)
c.25506G= (p.Gln8502=)
c.25494G= (p.Gln8498=)
c.25485G= (p.Gln8495=)
c.25455G= (p.Gln8485=)
c.25491G= (p.Gln8497=)
c.25437G= (p.Gln8479=)
c.25434G= (p.Gln8478=)
c.25422G= (p.Gln8474=)
c.25365G= (p.Gln8455=)
c.25353G= (p.Gln8451=)
c.25350G= (p.Gln8450=)
c.25347G= (p.Gln8449=)
c.25503G= (p.Gln8501=)
c.25341G= (p.Gln8447=)
c.23781G= (p.Gln7927=)
c.23274G= (p.Gln7758=)
c.18741G= (p.Gln6247=)
c.2007G= (p.Gln669=)
c.25479G= (p.Gln8493=)
c.25428G= (p.Gln8476=)
c.25281G= (p.Gln8427=)
6g.152140007C>GCA366080131SYNE1c.1935G>C (p.Gln645His)
c.25401G>C (p.Gln8467His)
c.25257G>C (p.Gln8419His)
c.803G>C
c.1136G>C
c.1045G>C
c.1173G>C (p.Gln391His)
c.24186G>C (p.Gln8062His)
n.2149G>C
c.4236G>C (p.Gln1412His)
n.9093G>C
c.3339G>C (p.Gln1113His)
n.8985G>C
n.2015G>C
n.4423G>C
n.2238G>C
c.1866G>C (p.Gln622His)
c.25506G>C (p.Gln8502His)
c.25494G>C (p.Gln8498His)
c.25485G>C (p.Gln8495His)
c.25455G>C (p.Gln8485His)
c.25491G>C (p.Gln8497His)
c.25437G>C (p.Gln8479His)
c.25434G>C (p.Gln8478His)
c.25422G>C (p.Gln8474His)
c.25365G>C (p.Gln8455His)
c.25353G>C (p.Gln8451His)
c.25350G>C (p.Gln8450His)
c.25347G>C (p.Gln8449His)
c.25503G>C (p.Gln8501His)
c.25341G>C (p.Gln8447His)
c.23781G>C (p.Gln7927His)
c.23274G>C (p.Gln7758His)
c.18741G>C (p.Gln6247His)
c.2007G>C (p.Gln669His)
c.25479G>C (p.Gln8493His)
c.25428G>C (p.Gln8476His)
c.25281G>C (p.Gln8427His)
6g.152140007C>TCA452969836SYNE1c.1935G>A (p.Gln645=)
c.25401G>A (p.Gln8467=)
c.25257G>A (p.Gln8419=)
c.803G>A
c.1136G>A
c.1045G>A
c.1173G>A (p.Gln391=)
c.24186G>A (p.Gln8062=)
n.2149G>A
c.4236G>A (p.Gln1412=)
n.9093G>A
c.3339G>A (p.Gln1113=)
n.8985G>A
n.2015G>A
n.4423G>A
n.2238G>A
c.1866G>A (p.Gln622=)
c.25506G>A (p.Gln8502=)
c.25494G>A (p.Gln8498=)
c.25485G>A (p.Gln8495=)
c.25455G>A (p.Gln8485=)
c.25491G>A (p.Gln8497=)
c.25437G>A (p.Gln8479=)
c.25434G>A (p.Gln8478=)
c.25422G>A (p.Gln8474=)
c.25365G>A (p.Gln8455=)
c.25353G>A (p.Gln8451=)
c.25350G>A (p.Gln8450=)
c.25347G>A (p.Gln8449=)
c.25503G>A (p.Gln8501=)
c.25341G>A (p.Gln8447=)
c.23781G>A (p.Gln7927=)
c.23274G>A (p.Gln7758=)
c.18741G>A (p.Gln6247=)
c.2007G>A (p.Gln669=)
c.25479G>A (p.Gln8493=)
c.25428G>A (p.Gln8476=)
c.25281G>A (p.Gln8427=)
 ClinVar dbSNP gnomAD v4
6g.152140008T>ACA366080133SYNE1c.1934A>T (p.Gln645Leu)
c.25400A>T (p.Gln8467Leu)
c.25256A>T (p.Gln8419Leu)
c.802A>T
c.1135A>T
c.1044A>T
c.1172A>T (p.Gln391Leu)
c.24185A>T (p.Gln8062Leu)
n.2148A>T
c.4235A>T (p.Gln1412Leu)
n.9092A>T
c.3338A>T (p.Gln1113Leu)
n.8984A>T
n.2014A>T
n.4422A>T
n.2237A>T
c.1865A>T (p.Gln622Leu)
c.25505A>T (p.Gln8502Leu)
c.25493A>T (p.Gln8498Leu)
c.25484A>T (p.Gln8495Leu)
c.25454A>T (p.Gln8485Leu)
c.25490A>T (p.Gln8497Leu)
c.25436A>T (p.Gln8479Leu)
c.25433A>T (p.Gln8478Leu)
c.25421A>T (p.Gln8474Leu)
c.25364A>T (p.Gln8455Leu)
c.25352A>T (p.Gln8451Leu)
c.25349A>T (p.Gln8450Leu)
c.25346A>T (p.Gln8449Leu)
c.25502A>T (p.Gln8501Leu)
c.25340A>T (p.Gln8447Leu)
c.23780A>T (p.Gln7927Leu)
c.23273A>T (p.Gln7758Leu)
c.18740A>T (p.Gln6247Leu)
c.2006A>T (p.Gln669Leu)
c.25478A>T (p.Gln8493Leu)
c.25427A>T (p.Gln8476Leu)
c.25280A>T (p.Gln8427Leu)
6g.152140008T>CCA366080134SYNE1c.1934A>G (p.Gln645Arg)
c.25400A>G (p.Gln8467Arg)
c.25256A>G (p.Gln8419Arg)
c.802A>G
c.1135A>G
c.1044A>G
c.1172A>G (p.Gln391Arg)
c.24185A>G (p.Gln8062Arg)
n.2148A>G
c.4235A>G (p.Gln1412Arg)
n.9092A>G
c.3338A>G (p.Gln1113Arg)
n.8984A>G
n.2014A>G
n.4422A>G
n.2237A>G
c.1865A>G (p.Gln622Arg)
c.25505A>G (p.Gln8502Arg)
c.25493A>G (p.Gln8498Arg)
c.25484A>G (p.Gln8495Arg)
c.25454A>G (p.Gln8485Arg)
c.25490A>G (p.Gln8497Arg)
c.25436A>G (p.Gln8479Arg)
c.25433A>G (p.Gln8478Arg)
c.25421A>G (p.Gln8474Arg)
c.25364A>G (p.Gln8455Arg)
c.25352A>G (p.Gln8451Arg)
c.25349A>G (p.Gln8450Arg)
c.25346A>G (p.Gln8449Arg)
c.25502A>G (p.Gln8501Arg)
c.25340A>G (p.Gln8447Arg)
c.23780A>G (p.Gln7927Arg)
c.23273A>G (p.Gln7758Arg)
c.18740A>G (p.Gln6247Arg)
c.2006A>G (p.Gln669Arg)
c.25478A>G (p.Gln8493Arg)
c.25427A>G (p.Gln8476Arg)
c.25280A>G (p.Gln8427Arg)
6g.152140008T>GCA366080138SYNE1c.1934A>C (p.Gln645Pro)
c.25400A>C (p.Gln8467Pro)
c.25256A>C (p.Gln8419Pro)
c.802A>C
c.1135A>C
c.1044A>C
c.1172A>C (p.Gln391Pro)
c.24185A>C (p.Gln8062Pro)
n.2148A>C
c.4235A>C (p.Gln1412Pro)
n.9092A>C
c.3338A>C (p.Gln1113Pro)
n.8984A>C
n.2014A>C
n.4422A>C
n.2237A>C
c.1865A>C (p.Gln622Pro)
c.25505A>C (p.Gln8502Pro)
c.25493A>C (p.Gln8498Pro)
c.25484A>C (p.Gln8495Pro)
c.25454A>C (p.Gln8485Pro)
c.25490A>C (p.Gln8497Pro)
c.25436A>C (p.Gln8479Pro)
c.25433A>C (p.Gln8478Pro)
c.25421A>C (p.Gln8474Pro)
c.25364A>C (p.Gln8455Pro)
c.25352A>C (p.Gln8451Pro)
c.25349A>C (p.Gln8450Pro)
c.25346A>C (p.Gln8449Pro)
c.25502A>C (p.Gln8501Pro)
c.25340A>C (p.Gln8447Pro)
c.23780A>C (p.Gln7927Pro)
c.23273A>C (p.Gln7758Pro)
c.18740A>C (p.Gln6247Pro)
c.2006A>C (p.Gln669Pro)
c.25478A>C (p.Gln8493Pro)
c.25427A>C (p.Gln8476Pro)
c.25280A>C (p.Gln8427Pro)
 gnomAD v4
6g.152140009G>ACA366080140SYNE1c.1933C>T (p.Gln645Ter)
c.25399C>T (p.Gln8467Ter)
c.25255C>T (p.Gln8419Ter)
c.801C>T
c.1134C>T
c.1043C>T
c.1171C>T (p.Gln391Ter)
c.24184C>T (p.Gln8062Ter)
n.2147C>T
c.4234C>T (p.Gln1412Ter)
n.9091C>T
c.3337C>T (p.Gln1113Ter)
n.8983C>T
n.2013C>T
n.4421C>T
n.2236C>T
c.1864C>T (p.Gln622Ter)
c.25504C>T (p.Gln8502Ter)
c.25492C>T (p.Gln8498Ter)
c.25483C>T (p.Gln8495Ter)
c.25453C>T (p.Gln8485Ter)
c.25489C>T (p.Gln8497Ter)
c.25435C>T (p.Gln8479Ter)
c.25432C>T (p.Gln8478Ter)
c.25420C>T (p.Gln8474Ter)
c.25363C>T (p.Gln8455Ter)
c.25351C>T (p.Gln8451Ter)
c.25348C>T (p.Gln8450Ter)
c.25345C>T (p.Gln8449Ter)
c.25501C>T (p.Gln8501Ter)
c.25339C>T (p.Gln8447Ter)
c.23779C>T (p.Gln7927Ter)
c.23272C>T (p.Gln7758Ter)
c.18739C>T (p.Gln6247Ter)
c.2005C>T (p.Gln669Ter)
c.25477C>T (p.Gln8493Ter)
c.25426C>T (p.Gln8476Ter)
c.25279C>T (p.Gln8427Ter)
6g.152140009G>CCA366080143SYNE1c.1933C>G (p.Gln645Glu)
c.25399C>G (p.Gln8467Glu)
c.25255C>G (p.Gln8419Glu)
c.801C>G
c.1134C>G
c.1043C>G
c.1171C>G (p.Gln391Glu)
c.24184C>G (p.Gln8062Glu)
n.2147C>G
c.4234C>G (p.Gln1412Glu)
n.9091C>G
c.3337C>G (p.Gln1113Glu)
n.8983C>G
n.2013C>G
n.4421C>G
n.2236C>G
c.1864C>G (p.Gln622Glu)
c.25504C>G (p.Gln8502Glu)
c.25492C>G (p.Gln8498Glu)
c.25483C>G (p.Gln8495Glu)
c.25453C>G (p.Gln8485Glu)
c.25489C>G (p.Gln8497Glu)
c.25435C>G (p.Gln8479Glu)
c.25432C>G (p.Gln8478Glu)
c.25420C>G (p.Gln8474Glu)
c.25363C>G (p.Gln8455Glu)
c.25351C>G (p.Gln8451Glu)
c.25348C>G (p.Gln8450Glu)
c.25345C>G (p.Gln8449Glu)
c.25501C>G (p.Gln8501Glu)
c.25339C>G (p.Gln8447Glu)
c.23779C>G (p.Gln7927Glu)
c.23272C>G (p.Gln7758Glu)
c.18739C>G (p.Gln6247Glu)
c.2005C>G (p.Gln669Glu)
c.25477C>G (p.Gln8493Glu)
c.25426C>G (p.Gln8476Glu)
c.25279C>G (p.Gln8427Glu)
6g.152140009G>TCA366080142SYNE1c.1933C>A (p.Gln645Lys)
c.25399C>A (p.Gln8467Lys)
c.25255C>A (p.Gln8419Lys)
c.801C>A
c.1134C>A
c.1043C>A
c.1171C>A (p.Gln391Lys)
c.24184C>A (p.Gln8062Lys)
n.2147C>A
c.4234C>A (p.Gln1412Lys)
n.9091C>A
c.3337C>A (p.Gln1113Lys)
n.8983C>A
n.2013C>A
n.4421C>A
n.2236C>A
c.1864C>A (p.Gln622Lys)
c.25504C>A (p.Gln8502Lys)
c.25492C>A (p.Gln8498Lys)
c.25483C>A (p.Gln8495Lys)
c.25453C>A (p.Gln8485Lys)
c.25489C>A (p.Gln8497Lys)
c.25435C>A (p.Gln8479Lys)
c.25432C>A (p.Gln8478Lys)
c.25420C>A (p.Gln8474Lys)
c.25363C>A (p.Gln8455Lys)
c.25351C>A (p.Gln8451Lys)
c.25348C>A (p.Gln8450Lys)
c.25345C>A (p.Gln8449Lys)
c.25501C>A (p.Gln8501Lys)
c.25339C>A (p.Gln8447Lys)
c.23779C>A (p.Gln7927Lys)
c.23272C>A (p.Gln7758Lys)
c.18739C>A (p.Gln6247Lys)
c.2005C>A (p.Gln669Lys)
c.25477C>A (p.Gln8493Lys)
c.25426C>A (p.Gln8476Lys)
c.25279C>A (p.Gln8427Lys)
6g.152140010G>ACA452969840SYNE1c.1932C>T (p.Leu644=)
c.25398C>T (p.Leu8466=)
c.25254C>T (p.Leu8418=)
c.800C>T
c.1133C>T
c.1042C>T
c.1170C>T (p.Leu390=)
c.24183C>T (p.Leu8061=)
n.2146C>T
c.4233C>T (p.Leu1411=)
n.9090C>T
c.3336C>T (p.Leu1112=)
n.8982C>T
n.2012C>T
n.4420C>T
n.2235C>T
c.1863C>T (p.Leu621=)
c.25503C>T (p.Leu8501=)
c.25491C>T (p.Leu8497=)
c.25482C>T (p.Leu8494=)
c.25452C>T (p.Leu8484=)
c.25488C>T (p.Leu8496=)
c.25434C>T (p.Leu8478=)
c.25431C>T (p.Leu8477=)
c.25419C>T (p.Leu8473=)
c.25362C>T (p.Leu8454=)
c.25350C>T (p.Leu8450=)
c.25347C>T (p.Leu8449=)
c.25344C>T (p.Leu8448=)
c.25500C>T (p.Leu8500=)
c.25338C>T (p.Leu8446=)
c.23778C>T (p.Leu7926=)
c.23271C>T (p.Leu7757=)
c.18738C>T (p.Leu6246=)
c.2004C>T (p.Leu668=)
c.25476C>T (p.Leu8492=)
c.25425C>T (p.Leu8475=)
c.25278C>T (p.Leu8426=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140010G>CCA452969841SYNE1c.1932C>G (p.Leu644=)
c.25398C>G (p.Leu8466=)
c.25254C>G (p.Leu8418=)
c.800C>G
c.1133C>G
c.1042C>G
c.1170C>G (p.Leu390=)
c.24183C>G (p.Leu8061=)
n.2146C>G
c.4233C>G (p.Leu1411=)
n.9090C>G
c.3336C>G (p.Leu1112=)
n.8982C>G
n.2012C>G
n.4420C>G
n.2235C>G
c.1863C>G (p.Leu621=)
c.25503C>G (p.Leu8501=)
c.25491C>G (p.Leu8497=)
c.25482C>G (p.Leu8494=)
c.25452C>G (p.Leu8484=)
c.25488C>G (p.Leu8496=)
c.25434C>G (p.Leu8478=)
c.25431C>G (p.Leu8477=)
c.25419C>G (p.Leu8473=)
c.25362C>G (p.Leu8454=)
c.25350C>G (p.Leu8450=)
c.25347C>G (p.Leu8449=)
c.25344C>G (p.Leu8448=)
c.25500C>G (p.Leu8500=)
c.25338C>G (p.Leu8446=)
c.23778C>G (p.Leu7926=)
c.23271C>G (p.Leu7757=)
c.18738C>G (p.Leu6246=)
c.2004C>G (p.Leu668=)
c.25476C>G (p.Leu8492=)
c.25425C>G (p.Leu8475=)
c.25278C>G (p.Leu8426=)
6g.152140010G>TCA452969842SYNE1c.1932C>A (p.Leu644=)
c.25398C>A (p.Leu8466=)
c.25254C>A (p.Leu8418=)
c.800C>A
c.1133C>A
c.1042C>A
c.1170C>A (p.Leu390=)
c.24183C>A (p.Leu8061=)
n.2146C>A
c.4233C>A (p.Leu1411=)
n.9090C>A
c.3336C>A (p.Leu1112=)
n.8982C>A
n.2012C>A
n.4420C>A
n.2235C>A
c.1863C>A (p.Leu621=)
c.25503C>A (p.Leu8501=)
c.25491C>A (p.Leu8497=)
c.25482C>A (p.Leu8494=)
c.25452C>A (p.Leu8484=)
c.25488C>A (p.Leu8496=)
c.25434C>A (p.Leu8478=)
c.25431C>A (p.Leu8477=)
c.25419C>A (p.Leu8473=)
c.25362C>A (p.Leu8454=)
c.25350C>A (p.Leu8450=)
c.25347C>A (p.Leu8449=)
c.25344C>A (p.Leu8448=)
c.25500C>A (p.Leu8500=)
c.25338C>A (p.Leu8446=)
c.23778C>A (p.Leu7926=)
c.23271C>A (p.Leu7757=)
c.18738C>A (p.Leu6246=)
c.2004C>A (p.Leu668=)
c.25476C>A (p.Leu8492=)
c.25425C>A (p.Leu8475=)
c.25278C>A (p.Leu8426=)
6g.152140011A>CCA366080145SYNE1c.1931T>G (p.Leu644Arg)
c.25397T>G (p.Leu8466Arg)
c.25253T>G (p.Leu8418Arg)
c.799T>G
c.1132T>G
c.1041T>G
c.1169T>G (p.Leu390Arg)
c.24182T>G (p.Leu8061Arg)
n.2145T>G
c.4232T>G (p.Leu1411Arg)
n.9089T>G
c.3335T>G (p.Leu1112Arg)
n.8981T>G
n.2011T>G
n.4419T>G
n.2234T>G
c.1862T>G (p.Leu621Arg)
c.25502T>G (p.Leu8501Arg)
c.25490T>G (p.Leu8497Arg)
c.25481T>G (p.Leu8494Arg)
c.25451T>G (p.Leu8484Arg)
c.25487T>G (p.Leu8496Arg)
c.25433T>G (p.Leu8478Arg)
c.25430T>G (p.Leu8477Arg)
c.25418T>G (p.Leu8473Arg)
c.25361T>G (p.Leu8454Arg)
c.25349T>G (p.Leu8450Arg)
c.25346T>G (p.Leu8449Arg)
c.25343T>G (p.Leu8448Arg)
c.25499T>G (p.Leu8500Arg)
c.25337T>G (p.Leu8446Arg)
c.23777T>G (p.Leu7926Arg)
c.23270T>G (p.Leu7757Arg)
c.18737T>G (p.Leu6246Arg)
c.2003T>G (p.Leu668Arg)
c.25475T>G (p.Leu8492Arg)
c.25424T>G (p.Leu8475Arg)
c.25277T>G (p.Leu8426Arg)
6g.152140011A>GCA366080147SYNE1c.1931T>C (p.Leu644Pro)
c.25397T>C (p.Leu8466Pro)
c.25253T>C (p.Leu8418Pro)
c.799T>C
c.1132T>C
c.1041T>C
c.1169T>C (p.Leu390Pro)
c.24182T>C (p.Leu8061Pro)
n.2145T>C
c.4232T>C (p.Leu1411Pro)
n.9089T>C
c.3335T>C (p.Leu1112Pro)
n.8981T>C
n.2011T>C
n.4419T>C
n.2234T>C
c.1862T>C (p.Leu621Pro)
c.25502T>C (p.Leu8501Pro)
c.25490T>C (p.Leu8497Pro)
c.25481T>C (p.Leu8494Pro)
c.25451T>C (p.Leu8484Pro)
c.25487T>C (p.Leu8496Pro)
c.25433T>C (p.Leu8478Pro)
c.25430T>C (p.Leu8477Pro)
c.25418T>C (p.Leu8473Pro)
c.25361T>C (p.Leu8454Pro)
c.25349T>C (p.Leu8450Pro)
c.25346T>C (p.Leu8449Pro)
c.25343T>C (p.Leu8448Pro)
c.25499T>C (p.Leu8500Pro)
c.25337T>C (p.Leu8446Pro)
c.23777T>C (p.Leu7926Pro)
c.23270T>C (p.Leu7757Pro)
c.18737T>C (p.Leu6246Pro)
c.2003T>C (p.Leu668Pro)
c.25475T>C (p.Leu8492Pro)
c.25424T>C (p.Leu8475Pro)
c.25277T>C (p.Leu8426Pro)
6g.152140011A>TCA366080149SYNE1c.1931T>A (p.Leu644His)
c.25397T>A (p.Leu8466His)
c.25253T>A (p.Leu8418His)
c.799T>A
c.1132T>A
c.1041T>A
c.1169T>A (p.Leu390His)
c.24182T>A (p.Leu8061His)
n.2145T>A
c.4232T>A (p.Leu1411His)
n.9089T>A
c.3335T>A (p.Leu1112His)
n.8981T>A
n.2011T>A
n.4419T>A
n.2234T>A
c.1862T>A (p.Leu621His)
c.25502T>A (p.Leu8501His)
c.25490T>A (p.Leu8497His)
c.25481T>A (p.Leu8494His)
c.25451T>A (p.Leu8484His)
c.25487T>A (p.Leu8496His)
c.25433T>A (p.Leu8478His)
c.25430T>A (p.Leu8477His)
c.25418T>A (p.Leu8473His)
c.25361T>A (p.Leu8454His)
c.25349T>A (p.Leu8450His)
c.25346T>A (p.Leu8449His)
c.25343T>A (p.Leu8448His)
c.25499T>A (p.Leu8500His)
c.25337T>A (p.Leu8446His)
c.23777T>A (p.Leu7926His)
c.23270T>A (p.Leu7757His)
c.18737T>A (p.Leu6246His)
c.2003T>A (p.Leu668His)
c.25475T>A (p.Leu8492His)
c.25424T>A (p.Leu8475His)
c.25277T>A (p.Leu8426His)
6g.152140012G>ACA366080151SYNE1c.1930C>T (p.Leu644Phe)
c.25396C>T (p.Leu8466Phe)
c.25252C>T (p.Leu8418Phe)
c.798C>T
c.1131C>T
c.1040C>T
c.1168C>T (p.Leu390Phe)
c.24181C>T (p.Leu8061Phe)
n.2144C>T
c.4231C>T (p.Leu1411Phe)
n.9088C>T
c.3334C>T (p.Leu1112Phe)
n.8980C>T
n.2010C>T
n.4418C>T
n.2233C>T
c.1861C>T (p.Leu621Phe)
c.25501C>T (p.Leu8501Phe)
c.25489C>T (p.Leu8497Phe)
c.25480C>T (p.Leu8494Phe)
c.25450C>T (p.Leu8484Phe)
c.25486C>T (p.Leu8496Phe)
c.25432C>T (p.Leu8478Phe)
c.25429C>T (p.Leu8477Phe)
c.25417C>T (p.Leu8473Phe)
c.25360C>T (p.Leu8454Phe)
c.25348C>T (p.Leu8450Phe)
c.25345C>T (p.Leu8449Phe)
c.25342C>T (p.Leu8448Phe)
c.25498C>T (p.Leu8500Phe)
c.25336C>T (p.Leu8446Phe)
c.23776C>T (p.Leu7926Phe)
c.23269C>T (p.Leu7757Phe)
c.18736C>T (p.Leu6246Phe)
c.2002C>T (p.Leu668Phe)
c.25474C>T (p.Leu8492Phe)
c.25423C>T (p.Leu8475Phe)
c.25276C>T (p.Leu8426Phe)
 dbSNP
6g.152140012G>CCA366080152SYNE1c.1930C>G (p.Leu644Val)
c.25396C>G (p.Leu8466Val)
c.25252C>G (p.Leu8418Val)
c.798C>G
c.1131C>G
c.1040C>G
c.1168C>G (p.Leu390Val)
c.24181C>G (p.Leu8061Val)
n.2144C>G
c.4231C>G (p.Leu1411Val)
n.9088C>G
c.3334C>G (p.Leu1112Val)
n.8980C>G
n.2010C>G
n.4418C>G
n.2233C>G
c.1861C>G (p.Leu621Val)
c.25501C>G (p.Leu8501Val)
c.25489C>G (p.Leu8497Val)
c.25480C>G (p.Leu8494Val)
c.25450C>G (p.Leu8484Val)
c.25486C>G (p.Leu8496Val)
c.25432C>G (p.Leu8478Val)
c.25429C>G (p.Leu8477Val)
c.25417C>G (p.Leu8473Val)
c.25360C>G (p.Leu8454Val)
c.25348C>G (p.Leu8450Val)
c.25345C>G (p.Leu8449Val)
c.25342C>G (p.Leu8448Val)
c.25498C>G (p.Leu8500Val)
c.25336C>G (p.Leu8446Val)
c.23776C>G (p.Leu7926Val)
c.23269C>G (p.Leu7757Val)
c.18736C>G (p.Leu6246Val)
c.2002C>G (p.Leu668Val)
c.25474C>G (p.Leu8492Val)
c.25423C>G (p.Leu8475Val)
c.25276C>G (p.Leu8426Val)
6g.152140012G>TCA366080155SYNE1c.1930C>A (p.Leu644Ile)
c.25396C>A (p.Leu8466Ile)
c.25252C>A (p.Leu8418Ile)
c.798C>A
c.1131C>A
c.1040C>A
c.1168C>A (p.Leu390Ile)
c.24181C>A (p.Leu8061Ile)
n.2144C>A
c.4231C>A (p.Leu1411Ile)
n.9088C>A
c.3334C>A (p.Leu1112Ile)
n.8980C>A
n.2010C>A
n.4418C>A
n.2233C>A
c.1861C>A (p.Leu621Ile)
c.25501C>A (p.Leu8501Ile)
c.25489C>A (p.Leu8497Ile)
c.25480C>A (p.Leu8494Ile)
c.25450C>A (p.Leu8484Ile)
c.25486C>A (p.Leu8496Ile)
c.25432C>A (p.Leu8478Ile)
c.25429C>A (p.Leu8477Ile)
c.25417C>A (p.Leu8473Ile)
c.25360C>A (p.Leu8454Ile)
c.25348C>A (p.Leu8450Ile)
c.25345C>A (p.Leu8449Ile)
c.25342C>A (p.Leu8448Ile)
c.25498C>A (p.Leu8500Ile)
c.25336C>A (p.Leu8446Ile)
c.23776C>A (p.Leu7926Ile)
c.23269C>A (p.Leu7757Ile)
c.18736C>A (p.Leu6246Ile)
c.2002C>A (p.Leu668Ile)
c.25474C>A (p.Leu8492Ile)
c.25423C>A (p.Leu8475Ile)
c.25276C>A (p.Leu8426Ile)
6g.152140013C>ACA366080156SYNE1c.1929G>T (p.Gln643His)
c.25395G>T (p.Gln8465His)
c.25251G>T (p.Gln8417His)
c.797G>T
c.1130G>T
c.1039G>T
c.1167G>T (p.Gln389His)
c.24180G>T (p.Gln8060His)
n.2143G>T
c.4230G>T (p.Gln1410His)
n.9087G>T
c.3333G>T (p.Gln1111His)
n.8979G>T
n.2009G>T
n.4417G>T
n.2232G>T
c.1860G>T (p.Gln620His)
c.25500G>T (p.Gln8500His)
c.25488G>T (p.Gln8496His)
c.25479G>T (p.Gln8493His)
c.25449G>T (p.Gln8483His)
c.25485G>T (p.Gln8495His)
c.25431G>T (p.Gln8477His)
c.25428G>T (p.Gln8476His)
c.25416G>T (p.Gln8472His)
c.25359G>T (p.Gln8453His)
c.25347G>T (p.Gln8449His)
c.25344G>T (p.Gln8448His)
c.25341G>T (p.Gln8447His)
c.25497G>T (p.Gln8499His)
c.25335G>T (p.Gln8445His)
c.23775G>T (p.Gln7925His)
c.23268G>T (p.Gln7756His)
c.18735G>T (p.Gln6245His)
c.2001G>T (p.Gln667His)
c.25473G>T (p.Gln8491His)
c.25422G>T (p.Gln8474His)
c.25275G>T (p.Gln8425His)
6g.152140013C>GCA366080158SYNE1c.1929G>C (p.Gln643His)
c.25395G>C (p.Gln8465His)
c.25251G>C (p.Gln8417His)
c.797G>C
c.1130G>C
c.1039G>C
c.1167G>C (p.Gln389His)
c.24180G>C (p.Gln8060His)
n.2143G>C
c.4230G>C (p.Gln1410His)
n.9087G>C
c.3333G>C (p.Gln1111His)
n.8979G>C
n.2009G>C
n.4417G>C
n.2232G>C
c.1860G>C (p.Gln620His)
c.25500G>C (p.Gln8500His)
c.25488G>C (p.Gln8496His)
c.25479G>C (p.Gln8493His)
c.25449G>C (p.Gln8483His)
c.25485G>C (p.Gln8495His)
c.25431G>C (p.Gln8477His)
c.25428G>C (p.Gln8476His)
c.25416G>C (p.Gln8472His)
c.25359G>C (p.Gln8453His)
c.25347G>C (p.Gln8449His)
c.25344G>C (p.Gln8448His)
c.25341G>C (p.Gln8447His)
c.25497G>C (p.Gln8499His)
c.25335G>C (p.Gln8445His)
c.23775G>C (p.Gln7925His)
c.23268G>C (p.Gln7756His)
c.18735G>C (p.Gln6245His)
c.2001G>C (p.Gln667His)
c.25473G>C (p.Gln8491His)
c.25422G>C (p.Gln8474His)
c.25275G>C (p.Gln8425His)
6g.152140013C>TCA452969845SYNE1c.1929G>A (p.Gln643=)
c.25395G>A (p.Gln8465=)
c.25251G>A (p.Gln8417=)
c.797G>A
c.1130G>A
c.1039G>A
c.1167G>A (p.Gln389=)
c.24180G>A (p.Gln8060=)
n.2143G>A
c.4230G>A (p.Gln1410=)
n.9087G>A
c.3333G>A (p.Gln1111=)
n.8979G>A
n.2009G>A
n.4417G>A
n.2232G>A
c.1860G>A (p.Gln620=)
c.25500G>A (p.Gln8500=)
c.25488G>A (p.Gln8496=)
c.25479G>A (p.Gln8493=)
c.25449G>A (p.Gln8483=)
c.25485G>A (p.Gln8495=)
c.25431G>A (p.Gln8477=)
c.25428G>A (p.Gln8476=)
c.25416G>A (p.Gln8472=)
c.25359G>A (p.Gln8453=)
c.25347G>A (p.Gln8449=)
c.25344G>A (p.Gln8448=)
c.25341G>A (p.Gln8447=)
c.25497G>A (p.Gln8499=)
c.25335G>A (p.Gln8445=)
c.23775G>A (p.Gln7925=)
c.23268G>A (p.Gln7756=)
c.18735G>A (p.Gln6245=)
c.2001G>A (p.Gln667=)
c.25473G>A (p.Gln8491=)
c.25422G>A (p.Gln8474=)
c.25275G>A (p.Gln8425=)
6g.152140014T>ACA366080160SYNE1c.1928A>T (p.Gln643Leu)
c.25394A>T (p.Gln8465Leu)
c.25250A>T (p.Gln8417Leu)
c.796A>T
c.1129A>T
c.1038A>T
c.1166A>T (p.Gln389Leu)
c.24179A>T (p.Gln8060Leu)
n.2142A>T
c.4229A>T (p.Gln1410Leu)
n.9086A>T
c.3332A>T (p.Gln1111Leu)
n.8978A>T
n.2008A>T
n.4416A>T
n.2231A>T
c.1859A>T (p.Gln620Leu)
c.25499A>T (p.Gln8500Leu)
c.25487A>T (p.Gln8496Leu)
c.25478A>T (p.Gln8493Leu)
c.25448A>T (p.Gln8483Leu)
c.25484A>T (p.Gln8495Leu)
c.25430A>T (p.Gln8477Leu)
c.25427A>T (p.Gln8476Leu)
c.25415A>T (p.Gln8472Leu)
c.25358A>T (p.Gln8453Leu)
c.25346A>T (p.Gln8449Leu)
c.25343A>T (p.Gln8448Leu)
c.25340A>T (p.Gln8447Leu)
c.25496A>T (p.Gln8499Leu)
c.25334A>T (p.Gln8445Leu)
c.23774A>T (p.Gln7925Leu)
c.23267A>T (p.Gln7756Leu)
c.18734A>T (p.Gln6245Leu)
c.2000A>T (p.Gln667Leu)
c.25472A>T (p.Gln8491Leu)
c.25421A>T (p.Gln8474Leu)
c.25274A>T (p.Gln8425Leu)
6g.152140014T>CCA366080161SYNE1c.1928A>G (p.Gln643Arg)
c.25394A>G (p.Gln8465Arg)
c.25250A>G (p.Gln8417Arg)
c.796A>G
c.1129A>G
c.1038A>G
c.1166A>G (p.Gln389Arg)
c.24179A>G (p.Gln8060Arg)
n.2142A>G
c.4229A>G (p.Gln1410Arg)
n.9086A>G
c.3332A>G (p.Gln1111Arg)
n.8978A>G
n.2008A>G
n.4416A>G
n.2231A>G
c.1859A>G (p.Gln620Arg)
c.25499A>G (p.Gln8500Arg)
c.25487A>G (p.Gln8496Arg)
c.25478A>G (p.Gln8493Arg)
c.25448A>G (p.Gln8483Arg)
c.25484A>G (p.Gln8495Arg)
c.25430A>G (p.Gln8477Arg)
c.25427A>G (p.Gln8476Arg)
c.25415A>G (p.Gln8472Arg)
c.25358A>G (p.Gln8453Arg)
c.25346A>G (p.Gln8449Arg)
c.25343A>G (p.Gln8448Arg)
c.25340A>G (p.Gln8447Arg)
c.25496A>G (p.Gln8499Arg)
c.25334A>G (p.Gln8445Arg)
c.23774A>G (p.Gln7925Arg)
c.23267A>G (p.Gln7756Arg)
c.18734A>G (p.Gln6245Arg)
c.2000A>G (p.Gln667Arg)
c.25472A>G (p.Gln8491Arg)
c.25421A>G (p.Gln8474Arg)
c.25274A>G (p.Gln8425Arg)
6g.152140014T>GCA366080163SYNE1c.1928A>C (p.Gln643Pro)
c.25394A>C (p.Gln8465Pro)
c.25250A>C (p.Gln8417Pro)
c.796A>C
c.1129A>C
c.1038A>C
c.1166A>C (p.Gln389Pro)
c.24179A>C (p.Gln8060Pro)
n.2142A>C
c.4229A>C (p.Gln1410Pro)
n.9086A>C
c.3332A>C (p.Gln1111Pro)
n.8978A>C
n.2008A>C
n.4416A>C
n.2231A>C
c.1859A>C (p.Gln620Pro)
c.25499A>C (p.Gln8500Pro)
c.25487A>C (p.Gln8496Pro)
c.25478A>C (p.Gln8493Pro)
c.25448A>C (p.Gln8483Pro)
c.25484A>C (p.Gln8495Pro)
c.25430A>C (p.Gln8477Pro)
c.25427A>C (p.Gln8476Pro)
c.25415A>C (p.Gln8472Pro)
c.25358A>C (p.Gln8453Pro)
c.25346A>C (p.Gln8449Pro)
c.25343A>C (p.Gln8448Pro)
c.25340A>C (p.Gln8447Pro)
c.25496A>C (p.Gln8499Pro)
c.25334A>C (p.Gln8445Pro)
c.23774A>C (p.Gln7925Pro)
c.23267A>C (p.Gln7756Pro)
c.18734A>C (p.Gln6245Pro)
c.2000A>C (p.Gln667Pro)
c.25472A>C (p.Gln8491Pro)
c.25421A>C (p.Gln8474Pro)
c.25274A>C (p.Gln8425Pro)
6g.152140015G>ACA366080165SYNE1c.1927C>T (p.Gln643Ter)
c.25393C>T (p.Gln8465Ter)
c.25249C>T (p.Gln8417Ter)
c.795C>T
c.1128C>T
c.1037C>T
c.1165C>T (p.Gln389Ter)
c.24178C>T (p.Gln8060Ter)
n.2141C>T
c.4228C>T (p.Gln1410Ter)
n.9085C>T
c.3331C>T (p.Gln1111Ter)
n.8977C>T
n.2007C>T
n.4415C>T
n.2230C>T
c.1858C>T (p.Gln620Ter)
c.25498C>T (p.Gln8500Ter)
c.25486C>T (p.Gln8496Ter)
c.25477C>T (p.Gln8493Ter)
c.25447C>T (p.Gln8483Ter)
c.25483C>T (p.Gln8495Ter)
c.25429C>T (p.Gln8477Ter)
c.25426C>T (p.Gln8476Ter)
c.25414C>T (p.Gln8472Ter)
c.25357C>T (p.Gln8453Ter)
c.25345C>T (p.Gln8449Ter)
c.25342C>T (p.Gln8448Ter)
c.25339C>T (p.Gln8447Ter)
c.25495C>T (p.Gln8499Ter)
c.25333C>T (p.Gln8445Ter)
c.23773C>T (p.Gln7925Ter)
c.23266C>T (p.Gln7756Ter)
c.18733C>T (p.Gln6245Ter)
c.1999C>T (p.Gln667Ter)
c.25471C>T (p.Gln8491Ter)
c.25420C>T (p.Gln8474Ter)
c.25273C>T (p.Gln8425Ter)
6g.152140015G>CCA366080169SYNE1c.1927C>G (p.Gln643Glu)
c.25393C>G (p.Gln8465Glu)
c.25249C>G (p.Gln8417Glu)
c.795C>G
c.1128C>G
c.1037C>G
c.1165C>G (p.Gln389Glu)
c.24178C>G (p.Gln8060Glu)
n.2141C>G
c.4228C>G (p.Gln1410Glu)
n.9085C>G
c.3331C>G (p.Gln1111Glu)
n.8977C>G
n.2007C>G
n.4415C>G
n.2230C>G
c.1858C>G (p.Gln620Glu)
c.25498C>G (p.Gln8500Glu)
c.25486C>G (p.Gln8496Glu)
c.25477C>G (p.Gln8493Glu)
c.25447C>G (p.Gln8483Glu)
c.25483C>G (p.Gln8495Glu)
c.25429C>G (p.Gln8477Glu)
c.25426C>G (p.Gln8476Glu)
c.25414C>G (p.Gln8472Glu)
c.25357C>G (p.Gln8453Glu)
c.25345C>G (p.Gln8449Glu)
c.25342C>G (p.Gln8448Glu)
c.25339C>G (p.Gln8447Glu)
c.25495C>G (p.Gln8499Glu)
c.25333C>G (p.Gln8445Glu)
c.23773C>G (p.Gln7925Glu)
c.23266C>G (p.Gln7756Glu)
c.18733C>G (p.Gln6245Glu)
c.1999C>G (p.Gln667Glu)
c.25471C>G (p.Gln8491Glu)
c.25420C>G (p.Gln8474Glu)
c.25273C>G (p.Gln8425Glu)
6g.152140015G>TCA366080167SYNE1c.1927C>A (p.Gln643Lys)
c.25393C>A (p.Gln8465Lys)
c.25249C>A (p.Gln8417Lys)
c.795C>A
c.1128C>A
c.1037C>A
c.1165C>A (p.Gln389Lys)
c.24178C>A (p.Gln8060Lys)
n.2141C>A
c.4228C>A (p.Gln1410Lys)
n.9085C>A
c.3331C>A (p.Gln1111Lys)
n.8977C>A
n.2007C>A
n.4415C>A
n.2230C>A
c.1858C>A (p.Gln620Lys)
c.25498C>A (p.Gln8500Lys)
c.25486C>A (p.Gln8496Lys)
c.25477C>A (p.Gln8493Lys)
c.25447C>A (p.Gln8483Lys)
c.25483C>A (p.Gln8495Lys)
c.25429C>A (p.Gln8477Lys)
c.25426C>A (p.Gln8476Lys)
c.25414C>A (p.Gln8472Lys)
c.25357C>A (p.Gln8453Lys)
c.25345C>A (p.Gln8449Lys)
c.25342C>A (p.Gln8448Lys)
c.25339C>A (p.Gln8447Lys)
c.25495C>A (p.Gln8499Lys)
c.25333C>A (p.Gln8445Lys)
c.23773C>A (p.Gln7925Lys)
c.23266C>A (p.Gln7756Lys)
c.18733C>A (p.Gln6245Lys)
c.1999C>A (p.Gln667Lys)
c.25471C>A (p.Gln8491Lys)
c.25420C>A (p.Gln8474Lys)
c.25273C>A (p.Gln8425Lys)
6g.152140016T>ACA366080171SYNE1c.1926A>T (p.Glu642Asp)
c.25392A>T (p.Glu8464Asp)
c.25248A>T (p.Glu8416Asp)
c.794A>T
c.1127A>T
c.1036A>T
c.1164A>T (p.Glu388Asp)
c.24177A>T (p.Glu8059Asp)
n.2140A>T
c.4227A>T (p.Glu1409Asp)
n.9084A>T
c.3330A>T (p.Glu1110Asp)
n.8976A>T
n.2006A>T
n.4414A>T
n.2229A>T
c.1857A>T (p.Glu619Asp)
c.25497A>T (p.Glu8499Asp)
c.25485A>T (p.Glu8495Asp)
c.25476A>T (p.Glu8492Asp)
c.25446A>T (p.Glu8482Asp)
c.25482A>T (p.Glu8494Asp)
c.25428A>T (p.Glu8476Asp)
c.25425A>T (p.Glu8475Asp)
c.25413A>T (p.Glu8471Asp)
c.25356A>T (p.Glu8452Asp)
c.25344A>T (p.Glu8448Asp)
c.25341A>T (p.Glu8447Asp)
c.25338A>T (p.Glu8446Asp)
c.25494A>T (p.Glu8498Asp)
c.25332A>T (p.Glu8444Asp)
c.23772A>T (p.Glu7924Asp)
c.23265A>T (p.Glu7755Asp)
c.18732A>T (p.Glu6244Asp)
c.1998A>T (p.Glu666Asp)
c.25470A>T (p.Glu8490Asp)
c.25419A>T (p.Glu8473Asp)
c.25272A>T (p.Glu8424Asp)
6g.152140016T>CCA452969849SYNE1c.1926A>G (p.Glu642=)
c.25392A>G (p.Glu8464=)
c.25248A>G (p.Glu8416=)
c.794A>G
c.1127A>G
c.1036A>G
c.1164A>G (p.Glu388=)
c.24177A>G (p.Glu8059=)
n.2140A>G
c.4227A>G (p.Glu1409=)
n.9084A>G
c.3330A>G (p.Glu1110=)
n.8976A>G
n.2006A>G
n.4414A>G
n.2229A>G
c.1857A>G (p.Glu619=)
c.25497A>G (p.Glu8499=)
c.25485A>G (p.Glu8495=)
c.25476A>G (p.Glu8492=)
c.25446A>G (p.Glu8482=)
c.25482A>G (p.Glu8494=)
c.25428A>G (p.Glu8476=)
c.25425A>G (p.Glu8475=)
c.25413A>G (p.Glu8471=)
c.25356A>G (p.Glu8452=)
c.25344A>G (p.Glu8448=)
c.25341A>G (p.Glu8447=)
c.25338A>G (p.Glu8446=)
c.25494A>G (p.Glu8498=)
c.25332A>G (p.Glu8444=)
c.23772A>G (p.Glu7924=)
c.23265A>G (p.Glu7755=)
c.18732A>G (p.Glu6244=)
c.1998A>G (p.Glu666=)
c.25470A>G (p.Glu8490=)
c.25419A>G (p.Glu8473=)
c.25272A>G (p.Glu8424=)
6g.152140016T>GCA366080172SYNE1c.1926A>C (p.Glu642Asp)
c.25392A>C (p.Glu8464Asp)
c.25248A>C (p.Glu8416Asp)
c.794A>C
c.1127A>C
c.1036A>C
c.1164A>C (p.Glu388Asp)
c.24177A>C (p.Glu8059Asp)
n.2140A>C
c.4227A>C (p.Glu1409Asp)
n.9084A>C
c.3330A>C (p.Glu1110Asp)
n.8976A>C
n.2006A>C
n.4414A>C
n.2229A>C
c.1857A>C (p.Glu619Asp)
c.25497A>C (p.Glu8499Asp)
c.25485A>C (p.Glu8495Asp)
c.25476A>C (p.Glu8492Asp)
c.25446A>C (p.Glu8482Asp)
c.25482A>C (p.Glu8494Asp)
c.25428A>C (p.Glu8476Asp)
c.25425A>C (p.Glu8475Asp)
c.25413A>C (p.Glu8471Asp)
c.25356A>C (p.Glu8452Asp)
c.25344A>C (p.Glu8448Asp)
c.25341A>C (p.Glu8447Asp)
c.25338A>C (p.Glu8446Asp)
c.25494A>C (p.Glu8498Asp)
c.25332A>C (p.Glu8444Asp)
c.23772A>C (p.Glu7924Asp)
c.23265A>C (p.Glu7755Asp)
c.18732A>C (p.Glu6244Asp)
c.1998A>C (p.Glu666Asp)
c.25470A>C (p.Glu8490Asp)
c.25419A>C (p.Glu8473Asp)
c.25272A>C (p.Glu8424Asp)
6g.152140016_152140017insCTTTATTCCTCTTTATACAAACGTATTCACTTTCCCACA2680812938SYNE1c.1925_1926insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu642AspfsTer9)
c.25391_25392insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8464AspfsTer9)
c.25247_25248insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8416AspfsTer9)
c.793_794insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1126_1127insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1035_1036insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1163_1164insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu388AspfsTer9)
c.24176_24177insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8059AspfsTer9)
n.2139_2140insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.4226_4227insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu1409AspfsTer9)
n.9083_9084insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.3329_3330insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu1110AspfsTer9)
n.8975_8976insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
n.2005_2006insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
n.4413_4414insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
n.2228_2229insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1856_1857insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu619AspfsTer9)
c.25496_25497insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8499AspfsTer9)
c.25484_25485insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8495AspfsTer9)
c.25475_25476insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8492AspfsTer9)
c.25445_25446insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8482AspfsTer9)
c.25481_25482insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8494AspfsTer9)
c.25427_25428insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8476AspfsTer9)
c.25424_25425insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8475AspfsTer9)
c.25412_25413insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8471AspfsTer9)
c.25355_25356insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8452AspfsTer9)
c.25343_25344insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8448AspfsTer9)
c.25340_25341insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8447AspfsTer9)
c.25337_25338insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8446AspfsTer9)
c.25493_25494insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8498AspfsTer9)
c.25331_25332insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8444AspfsTer9)
c.23771_23772insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu7924AspfsTer9)
c.23264_23265insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu7755AspfsTer9)
c.18731_18732insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu6244AspfsTer9)
c.1997_1998insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu666AspfsTer9)
c.25469_25470insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8490AspfsTer9)
c.25418_25419insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8473AspfsTer9)
c.25271_25272insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8424AspfsTer9)
 gnomAD v4
6g.152140017T>ACA366080175SYNE1c.1925A>T (p.Glu642Val)
c.25391A>T (p.Glu8464Val)
c.25247A>T (p.Glu8416Val)
c.793A>T
c.1126A>T
c.1035A>T
c.1163A>T (p.Glu388Val)
c.24176A>T (p.Glu8059Val)
n.2139A>T
c.4226A>T (p.Glu1409Val)
n.9083A>T
c.3329A>T (p.Glu1110Val)
n.8975A>T
n.2005A>T
n.4413A>T
n.2228A>T
c.1856A>T (p.Glu619Val)
c.25496A>T (p.Glu8499Val)
c.25484A>T (p.Glu8495Val)
c.25475A>T (p.Glu8492Val)
c.25445A>T (p.Glu8482Val)
c.25481A>T (p.Glu8494Val)
c.25427A>T (p.Glu8476Val)
c.25424A>T (p.Glu8475Val)
c.25412A>T (p.Glu8471Val)
c.25355A>T (p.Glu8452Val)
c.25343A>T (p.Glu8448Val)
c.25340A>T (p.Glu8447Val)
c.25337A>T (p.Glu8446Val)
c.25493A>T (p.Glu8498Val)
c.25331A>T (p.Glu8444Val)
c.23771A>T (p.Glu7924Val)
c.23264A>T (p.Glu7755Val)
c.18731A>T (p.Glu6244Val)
c.1997A>T (p.Glu666Val)
c.25469A>T (p.Glu8490Val)
c.25418A>T (p.Glu8473Val)
c.25271A>T (p.Glu8424Val)
 gnomAD v4
6g.152140017T>CCA366080177SYNE1c.1925A>G (p.Glu642Gly)
c.25391A>G (p.Glu8464Gly)
c.25247A>G (p.Glu8416Gly)
c.793A>G
c.1126A>G
c.1035A>G
c.1163A>G (p.Glu388Gly)
c.24176A>G (p.Glu8059Gly)
n.2139A>G
c.4226A>G (p.Glu1409Gly)
n.9083A>G
c.3329A>G (p.Glu1110Gly)
n.8975A>G
n.2005A>G
n.4413A>G
n.2228A>G
c.1856A>G (p.Glu619Gly)
c.25496A>G (p.Glu8499Gly)
c.25484A>G (p.Glu8495Gly)
c.25475A>G (p.Glu8492Gly)
c.25445A>G (p.Glu8482Gly)
c.25481A>G (p.Glu8494Gly)
c.25427A>G (p.Glu8476Gly)
c.25424A>G (p.Glu8475Gly)
c.25412A>G (p.Glu8471Gly)
c.25355A>G (p.Glu8452Gly)
c.25343A>G (p.Glu8448Gly)
c.25340A>G (p.Glu8447Gly)
c.25337A>G (p.Glu8446Gly)
c.25493A>G (p.Glu8498Gly)
c.25331A>G (p.Glu8444Gly)
c.23771A>G (p.Glu7924Gly)
c.23264A>G (p.Glu7755Gly)
c.18731A>G (p.Glu6244Gly)
c.1997A>G (p.Glu666Gly)
c.25469A>G (p.Glu8490Gly)
c.25418A>G (p.Glu8473Gly)
c.25271A>G (p.Glu8424Gly)
6g.152140017T>GCA366080176SYNE1c.1925A>C (p.Glu642Ala)
c.25391A>C (p.Glu8464Ala)
c.25247A>C (p.Glu8416Ala)
c.793A>C
c.1126A>C
c.1035A>C
c.1163A>C (p.Glu388Ala)
c.24176A>C (p.Glu8059Ala)
n.2139A>C
c.4226A>C (p.Glu1409Ala)
n.9083A>C
c.3329A>C (p.Glu1110Ala)
n.8975A>C
n.2005A>C
n.4413A>C
n.2228A>C
c.1856A>C (p.Glu619Ala)
c.25496A>C (p.Glu8499Ala)
c.25484A>C (p.Glu8495Ala)
c.25475A>C (p.Glu8492Ala)
c.25445A>C (p.Glu8482Ala)
c.25481A>C (p.Glu8494Ala)
c.25427A>C (p.Glu8476Ala)
c.25424A>C (p.Glu8475Ala)
c.25412A>C (p.Glu8471Ala)
c.25355A>C (p.Glu8452Ala)
c.25343A>C (p.Glu8448Ala)
c.25340A>C (p.Glu8447Ala)
c.25337A>C (p.Glu8446Ala)
c.25493A>C (p.Glu8498Ala)
c.25331A>C (p.Glu8444Ala)
c.23771A>C (p.Glu7924Ala)
c.23264A>C (p.Glu7755Ala)
c.18731A>C (p.Glu6244Ala)
c.1997A>C (p.Glu666Ala)
c.25469A>C (p.Glu8490Ala)
c.25418A>C (p.Glu8473Ala)
c.25271A>C (p.Glu8424Ala)
6g.152140018C>ACA366080179SYNE1c.1924G>T (p.Glu642Ter)
c.25390G>T (p.Glu8464Ter)
c.25246G>T (p.Glu8416Ter)
c.792G>T
c.1125G>T
c.1034G>T
c.1162G>T (p.Glu388Ter)
c.24175G>T (p.Glu8059Ter)
n.2138G>T
c.4225G>T (p.Glu1409Ter)
n.9082G>T
c.3328G>T (p.Glu1110Ter)
n.8974G>T
n.2004G>T
n.4412G>T
n.2227G>T
c.1855G>T (p.Glu619Ter)
c.25495G>T (p.Glu8499Ter)
c.25483G>T (p.Glu8495Ter)
c.25474G>T (p.Glu8492Ter)
c.25444G>T (p.Glu8482Ter)
c.25480G>T (p.Glu8494Ter)
c.25426G>T (p.Glu8476Ter)
c.25423G>T (p.Glu8475Ter)
c.25411G>T (p.Glu8471Ter)
c.25354G>T (p.Glu8452Ter)
c.25342G>T (p.Glu8448Ter)
c.25339G>T (p.Glu8447Ter)
c.25336G>T (p.Glu8446Ter)
c.25492G>T (p.Glu8498Ter)
c.25330G>T (p.Glu8444Ter)
c.23770G>T (p.Glu7924Ter)
c.23263G>T (p.Glu7755Ter)
c.18730G>T (p.Glu6244Ter)
c.1996G>T (p.Glu666Ter)
c.25468G>T (p.Glu8490Ter)
c.25417G>T (p.Glu8473Ter)
c.25270G>T (p.Glu8424Ter)
6g.152140018C=CA1673206232SYNE1c.1924G= (p.Glu642=)
c.25390G= (p.Glu8464=)
c.25246G= (p.Glu8416=)
c.792G=
c.1125G=
c.1034G=
c.1162G= (p.Glu388=)
c.24175G= (p.Glu8059=)
n.2138G=
c.4225G= (p.Glu1409=)
n.9082G=
c.3328G= (p.Glu1110=)
n.8974G=
n.2004G=
n.4412G=
n.2227G=
c.1855G= (p.Glu619=)
c.25495G= (p.Glu8499=)
c.25483G= (p.Glu8495=)
c.25474G= (p.Glu8492=)
c.25444G= (p.Glu8482=)
c.25480G= (p.Glu8494=)
c.25426G= (p.Glu8476=)
c.25423G= (p.Glu8475=)
c.25411G= (p.Glu8471=)
c.25354G= (p.Glu8452=)
c.25342G= (p.Glu8448=)
c.25339G= (p.Glu8447=)
c.25336G= (p.Glu8446=)
c.25492G= (p.Glu8498=)
c.25330G= (p.Glu8444=)
c.23770G= (p.Glu7924=)
c.23263G= (p.Glu7755=)
c.18730G= (p.Glu6244=)
c.1996G= (p.Glu666=)
c.25468G= (p.Glu8490=)
c.25417G= (p.Glu8473=)
c.25270G= (p.Glu8424=)
6g.152140018C>GCA366080183SYNE1c.1924G>C (p.Glu642Gln)
c.25390G>C (p.Glu8464Gln)
c.25246G>C (p.Glu8416Gln)
c.792G>C
c.1125G>C
c.1034G>C
c.1162G>C (p.Glu388Gln)
c.24175G>C (p.Glu8059Gln)
n.2138G>C
c.4225G>C (p.Glu1409Gln)
n.9082G>C
c.3328G>C (p.Glu1110Gln)
n.8974G>C
n.2004G>C
n.4412G>C
n.2227G>C
c.1855G>C (p.Glu619Gln)
c.25495G>C (p.Glu8499Gln)
c.25483G>C (p.Glu8495Gln)
c.25474G>C (p.Glu8492Gln)
c.25444G>C (p.Glu8482Gln)
c.25480G>C (p.Glu8494Gln)
c.25426G>C (p.Glu8476Gln)
c.25423G>C (p.Glu8475Gln)
c.25411G>C (p.Glu8471Gln)
c.25354G>C (p.Glu8452Gln)
c.25342G>C (p.Glu8448Gln)
c.25339G>C (p.Glu8447Gln)
c.25336G>C (p.Glu8446Gln)
c.25492G>C (p.Glu8498Gln)
c.25330G>C (p.Glu8444Gln)
c.23770G>C (p.Glu7924Gln)
c.23263G>C (p.Glu7755Gln)
c.18730G>C (p.Glu6244Gln)
c.1996G>C (p.Glu666Gln)
c.25468G>C (p.Glu8490Gln)
c.25417G>C (p.Glu8473Gln)
c.25270G>C (p.Glu8424Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.152140018C>TCA366080181SYNE1c.1924G>A (p.Glu642Lys)
c.25390G>A (p.Glu8464Lys)
c.25246G>A (p.Glu8416Lys)
c.792G>A
c.1125G>A
c.1034G>A
c.1162G>A (p.Glu388Lys)
c.24175G>A (p.Glu8059Lys)
n.2138G>A
c.4225G>A (p.Glu1409Lys)
n.9082G>A
c.3328G>A (p.Glu1110Lys)
n.8974G>A
n.2004G>A
n.4412G>A
n.2227G>A
c.1855G>A (p.Glu619Lys)
c.25495G>A (p.Glu8499Lys)
c.25483G>A (p.Glu8495Lys)
c.25474G>A (p.Glu8492Lys)
c.25444G>A (p.Glu8482Lys)
c.25480G>A (p.Glu8494Lys)
c.25426G>A (p.Glu8476Lys)
c.25423G>A (p.Glu8475Lys)
c.25411G>A (p.Glu8471Lys)
c.25354G>A (p.Glu8452Lys)
c.25342G>A (p.Glu8448Lys)
c.25339G>A (p.Glu8447Lys)
c.25336G>A (p.Glu8446Lys)
c.25492G>A (p.Glu8498Lys)
c.25330G>A (p.Glu8444Lys)
c.23770G>A (p.Glu7924Lys)
c.23263G>A (p.Glu7755Lys)
c.18730G>A (p.Glu6244Lys)
c.1996G>A (p.Glu666Lys)
c.25468G>A (p.Glu8490Lys)
c.25417G>A (p.Glu8473Lys)
c.25270G>A (p.Glu8424Lys)
 gnomAD v4
6g.152140019C>ACA366080184SYNE1c.1923G>T (p.Leu641Phe)
c.25389G>T (p.Leu8463Phe)
c.25245G>T (p.Leu8415Phe)
c.791G>T
c.1124G>T
c.1033G>T
c.1161G>T (p.Leu387Phe)
c.24174G>T (p.Leu8058Phe)
n.2137G>T
c.4224G>T (p.Leu1408Phe)
n.9081G>T
c.3327G>T (p.Leu1109Phe)
n.8973G>T
n.2003G>T
n.4411G>T
n.2226G>T
c.1854G>T (p.Leu618Phe)
c.25494G>T (p.Leu8498Phe)
c.25482G>T (p.Leu8494Phe)
c.25473G>T (p.Leu8491Phe)
c.25443G>T (p.Leu8481Phe)
c.25479G>T (p.Leu8493Phe)
c.25425G>T (p.Leu8475Phe)
c.25422G>T (p.Leu8474Phe)
c.25410G>T (p.Leu8470Phe)
c.25353G>T (p.Leu8451Phe)
c.25341G>T (p.Leu8447Phe)
c.25338G>T (p.Leu8446Phe)
c.25335G>T (p.Leu8445Phe)
c.25491G>T (p.Leu8497Phe)
c.25329G>T (p.Leu8443Phe)
c.23769G>T (p.Leu7923Phe)
c.23262G>T (p.Leu7754Phe)
c.18729G>T (p.Leu6243Phe)
c.1995G>T (p.Leu665Phe)
c.25467G>T (p.Leu8489Phe)
c.25416G>T (p.Leu8472Phe)
c.25269G>T (p.Leu8423Phe)
6g.152140019C=CA1673206234SYNE1c.1923G= (p.Leu641=)
c.25389G= (p.Leu8463=)
c.25245G= (p.Leu8415=)
c.791G=
c.1124G=
c.1033G=
c.1161G= (p.Leu387=)
c.24174G= (p.Leu8058=)
n.2137G=
c.4224G= (p.Leu1408=)
n.9081G=
c.3327G= (p.Leu1109=)
n.8973G=
n.2003G=
n.4411G=
n.2226G=
c.1854G= (p.Leu618=)
c.25494G= (p.Leu8498=)
c.25482G= (p.Leu8494=)
c.25473G= (p.Leu8491=)
c.25443G= (p.Leu8481=)
c.25479G= (p.Leu8493=)
c.25425G= (p.Leu8475=)
c.25422G= (p.Leu8474=)
c.25410G= (p.Leu8470=)
c.25353G= (p.Leu8451=)
c.25341G= (p.Leu8447=)
c.25338G= (p.Leu8446=)
c.25335G= (p.Leu8445=)
c.25491G= (p.Leu8497=)
c.25329G= (p.Leu8443=)
c.23769G= (p.Leu7923=)
c.23262G= (p.Leu7754=)
c.18729G= (p.Leu6243=)
c.1995G= (p.Leu665=)
c.25467G= (p.Leu8489=)
c.25416G= (p.Leu8472=)
c.25269G= (p.Leu8423=)
6g.152140019C>GCA366080186SYNE1c.1923G>C (p.Leu641Phe)
c.25389G>C (p.Leu8463Phe)
c.25245G>C (p.Leu8415Phe)
c.791G>C
c.1124G>C
c.1033G>C
c.1161G>C (p.Leu387Phe)
c.24174G>C (p.Leu8058Phe)
n.2137G>C
c.4224G>C (p.Leu1408Phe)
n.9081G>C
c.3327G>C (p.Leu1109Phe)
n.8973G>C
n.2003G>C
n.4411G>C
n.2226G>C
c.1854G>C (p.Leu618Phe)
c.25494G>C (p.Leu8498Phe)
c.25482G>C (p.Leu8494Phe)
c.25473G>C (p.Leu8491Phe)
c.25443G>C (p.Leu8481Phe)
c.25479G>C (p.Leu8493Phe)
c.25425G>C (p.Leu8475Phe)
c.25422G>C (p.Leu8474Phe)
c.25410G>C (p.Leu8470Phe)
c.25353G>C (p.Leu8451Phe)
c.25341G>C (p.Leu8447Phe)
c.25338G>C (p.Leu8446Phe)
c.25335G>C (p.Leu8445Phe)
c.25491G>C (p.Leu8497Phe)
c.25329G>C (p.Leu8443Phe)
c.23769G>C (p.Leu7923Phe)
c.23262G>C (p.Leu7754Phe)
c.18729G>C (p.Leu6243Phe)
c.1995G>C (p.Leu665Phe)
c.25467G>C (p.Leu8489Phe)
c.25416G>C (p.Leu8472Phe)
c.25269G>C (p.Leu8423Phe)
6g.152140019C>TCA452969853SYNE1c.1923G>A (p.Leu641=)
c.25389G>A (p.Leu8463=)
c.25245G>A (p.Leu8415=)
c.791G>A
c.1124G>A
c.1033G>A
c.1161G>A (p.Leu387=)
c.24174G>A (p.Leu8058=)
n.2137G>A
c.4224G>A (p.Leu1408=)
n.9081G>A
c.3327G>A (p.Leu1109=)
n.8973G>A
n.2003G>A
n.4411G>A
n.2226G>A
c.1854G>A (p.Leu618=)
c.25494G>A (p.Leu8498=)
c.25482G>A (p.Leu8494=)
c.25473G>A (p.Leu8491=)
c.25443G>A (p.Leu8481=)
c.25479G>A (p.Leu8493=)
c.25425G>A (p.Leu8475=)
c.25422G>A (p.Leu8474=)
c.25410G>A (p.Leu8470=)
c.25353G>A (p.Leu8451=)
c.25341G>A (p.Leu8447=)
c.25338G>A (p.Leu8446=)
c.25335G>A (p.Leu8445=)
c.25491G>A (p.Leu8497=)
c.25329G>A (p.Leu8443=)
c.23769G>A (p.Leu7923=)
c.23262G>A (p.Leu7754=)
c.18729G>A (p.Leu6243=)
c.1995G>A (p.Leu665=)
c.25467G>A (p.Leu8489=)
c.25416G>A (p.Leu8472=)
c.25269G>A (p.Leu8423=)
 dbSNP gnomAD v3 gnomAD v4
6g.152140020A>CCA366080189SYNE1c.1922T>G (p.Leu641Trp)
c.25388T>G (p.Leu8463Trp)
c.25244T>G (p.Leu8415Trp)
c.790T>G
c.1123T>G
c.1032T>G
c.1160T>G (p.Leu387Trp)
c.24173T>G (p.Leu8058Trp)
n.2136T>G
c.4223T>G (p.Leu1408Trp)
n.9080T>G
c.3326T>G (p.Leu1109Trp)
n.8972T>G
n.2002T>G
n.4410T>G
n.2225T>G
c.1853T>G (p.Leu618Trp)
c.25493T>G (p.Leu8498Trp)
c.25481T>G (p.Leu8494Trp)
c.25472T>G (p.Leu8491Trp)
c.25442T>G (p.Leu8481Trp)
c.25478T>G (p.Leu8493Trp)
c.25424T>G (p.Leu8475Trp)
c.25421T>G (p.Leu8474Trp)
c.25409T>G (p.Leu8470Trp)
c.25352T>G (p.Leu8451Trp)
c.25340T>G (p.Leu8447Trp)
c.25337T>G (p.Leu8446Trp)
c.25334T>G (p.Leu8445Trp)
c.25490T>G (p.Leu8497Trp)
c.25328T>G (p.Leu8443Trp)
c.23768T>G (p.Leu7923Trp)
c.23261T>G (p.Leu7754Trp)
c.18728T>G (p.Leu6243Trp)
c.1994T>G (p.Leu665Trp)
c.25466T>G (p.Leu8489Trp)
c.25415T>G (p.Leu8472Trp)
c.25268T>G (p.Leu8423Trp)
6g.152140020A>GCA366080190SYNE1c.1922T>C (p.Leu641Ser)
c.25388T>C (p.Leu8463Ser)
c.25244T>C (p.Leu8415Ser)
c.790T>C
c.1123T>C
c.1032T>C
c.1160T>C (p.Leu387Ser)
c.24173T>C (p.Leu8058Ser)
n.2136T>C
c.4223T>C (p.Leu1408Ser)
n.9080T>C
c.3326T>C (p.Leu1109Ser)
n.8972T>C
n.2002T>C
n.4410T>C
n.2225T>C
c.1853T>C (p.Leu618Ser)
c.25493T>C (p.Leu8498Ser)
c.25481T>C (p.Leu8494Ser)
c.25472T>C (p.Leu8491Ser)
c.25442T>C (p.Leu8481Ser)
c.25478T>C (p.Leu8493Ser)
c.25424T>C (p.Leu8475Ser)
c.25421T>C (p.Leu8474Ser)
c.25409T>C (p.Leu8470Ser)
c.25352T>C (p.Leu8451Ser)
c.25340T>C (p.Leu8447Ser)
c.25337T>C (p.Leu8446Ser)
c.25334T>C (p.Leu8445Ser)
c.25490T>C (p.Leu8497Ser)
c.25328T>C (p.Leu8443Ser)
c.23768T>C (p.Leu7923Ser)
c.23261T>C (p.Leu7754Ser)
c.18728T>C (p.Leu6243Ser)
c.1994T>C (p.Leu665Ser)
c.25466T>C (p.Leu8489Ser)
c.25415T>C (p.Leu8472Ser)
c.25268T>C (p.Leu8423Ser)
6g.152140020A>TCA366080192SYNE1c.1922T>A (p.Leu641Ter)
c.25388T>A (p.Leu8463Ter)
c.25244T>A (p.Leu8415Ter)
c.790T>A
c.1123T>A
c.1032T>A
c.1160T>A (p.Leu387Ter)
c.24173T>A (p.Leu8058Ter)
n.2136T>A
c.4223T>A (p.Leu1408Ter)
n.9080T>A
c.3326T>A (p.Leu1109Ter)
n.8972T>A
n.2002T>A
n.4410T>A
n.2225T>A
c.1853T>A (p.Leu618Ter)
c.25493T>A (p.Leu8498Ter)
c.25481T>A (p.Leu8494Ter)
c.25472T>A (p.Leu8491Ter)
c.25442T>A (p.Leu8481Ter)
c.25478T>A (p.Leu8493Ter)
c.25424T>A (p.Leu8475Ter)
c.25421T>A (p.Leu8474Ter)
c.25409T>A (p.Leu8470Ter)
c.25352T>A (p.Leu8451Ter)
c.25340T>A (p.Leu8447Ter)
c.25337T>A (p.Leu8446Ter)
c.25334T>A (p.Leu8445Ter)
c.25490T>A (p.Leu8497Ter)
c.25328T>A (p.Leu8443Ter)
c.23768T>A (p.Leu7923Ter)
c.23261T>A (p.Leu7754Ter)
c.18728T>A (p.Leu6243Ter)
c.1994T>A (p.Leu665Ter)
c.25466T>A (p.Leu8489Ter)
c.25415T>A (p.Leu8472Ter)
c.25268T>A (p.Leu8423Ter)
6g.152140021A=CA1673206240SYNE1c.1921T= (p.Leu641=)
c.25387T= (p.Leu8463=)
c.25243T= (p.Leu8415=)
c.789T=
c.1122T=
c.1031T=
c.1159T= (p.Leu387=)
c.24172T= (p.Leu8058=)
n.2135T=
c.4222T= (p.Leu1408=)
n.9079T=
c.3325T= (p.Leu1109=)
n.8971T=
n.2001T=
n.4409T=
n.2224T=
c.1852T= (p.Leu618=)
c.25492T= (p.Leu8498=)
c.25480T= (p.Leu8494=)
c.25471T= (p.Leu8491=)
c.25441T= (p.Leu8481=)
c.25477T= (p.Leu8493=)
c.25423T= (p.Leu8475=)
c.25420T= (p.Leu8474=)
c.25408T= (p.Leu8470=)
c.25351T= (p.Leu8451=)
c.25339T= (p.Leu8447=)
c.25336T= (p.Leu8446=)
c.25333T= (p.Leu8445=)
c.25489T= (p.Leu8497=)
c.25327T= (p.Leu8443=)
c.23767T= (p.Leu7923=)
c.23260T= (p.Leu7754=)
c.18727T= (p.Leu6243=)
c.1993T= (p.Leu665=)
c.25465T= (p.Leu8489=)
c.25414T= (p.Leu8472=)
c.25267T= (p.Leu8423=)
6g.152140021A>CCA366080194SYNE1c.1921T>G (p.Leu641Val)
c.25387T>G (p.Leu8463Val)
c.25243T>G (p.Leu8415Val)
c.789T>G
c.1122T>G
c.1031T>G
c.1159T>G (p.Leu387Val)
c.24172T>G (p.Leu8058Val)
n.2135T>G
c.4222T>G (p.Leu1408Val)
n.9079T>G
c.3325T>G (p.Leu1109Val)
n.8971T>G
n.2001T>G
n.4409T>G
n.2224T>G
c.1852T>G (p.Leu618Val)
c.25492T>G (p.Leu8498Val)
c.25480T>G (p.Leu8494Val)
c.25471T>G (p.Leu8491Val)
c.25441T>G (p.Leu8481Val)
c.25477T>G (p.Leu8493Val)
c.25423T>G (p.Leu8475Val)
c.25420T>G (p.Leu8474Val)
c.25408T>G (p.Leu8470Val)
c.25351T>G (p.Leu8451Val)
c.25339T>G (p.Leu8447Val)
c.25336T>G (p.Leu8446Val)
c.25333T>G (p.Leu8445Val)
c.25489T>G (p.Leu8497Val)
c.25327T>G (p.Leu8443Val)
c.23767T>G (p.Leu7923Val)
c.23260T>G (p.Leu7754Val)
c.18727T>G (p.Leu6243Val)
c.1993T>G (p.Leu665Val)
c.25465T>G (p.Leu8489Val)
c.25414T>G (p.Leu8472Val)
c.25267T>G (p.Leu8423Val)
6g.152140021A>GCA150165540SYNE1c.1921T>C (p.Leu641=)
c.25387T>C (p.Leu8463=)
c.25243T>C (p.Leu8415=)
c.789T>C
c.1122T>C
c.1031T>C
c.1159T>C (p.Leu387=)
c.24172T>C (p.Leu8058=)
n.2135T>C
c.4222T>C (p.Leu1408=)
n.9079T>C
c.3325T>C (p.Leu1109=)
n.8971T>C
n.2001T>C
n.4409T>C
n.2224T>C
c.1852T>C (p.Leu618=)
c.25492T>C (p.Leu8498=)
c.25480T>C (p.Leu8494=)
c.25471T>C (p.Leu8491=)
c.25441T>C (p.Leu8481=)
c.25477T>C (p.Leu8493=)
c.25423T>C (p.Leu8475=)
c.25420T>C (p.Leu8474=)
c.25408T>C (p.Leu8470=)
c.25351T>C (p.Leu8451=)
c.25339T>C (p.Leu8447=)
c.25336T>C (p.Leu8446=)
c.25333T>C (p.Leu8445=)
c.25489T>C (p.Leu8497=)
c.25327T>C (p.Leu8443=)
c.23767T>C (p.Leu7923=)
c.23260T>C (p.Leu7754=)
c.18727T>C (p.Leu6243=)
c.1993T>C (p.Leu665=)
c.25465T>C (p.Leu8489=)
c.25414T>C (p.Leu8472=)
c.25267T>C (p.Leu8423=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140021A>TCA366080195SYNE1c.1921T>A (p.Leu641Met)
c.25387T>A (p.Leu8463Met)
c.25243T>A (p.Leu8415Met)
c.789T>A
c.1122T>A
c.1031T>A
c.1159T>A (p.Leu387Met)
c.24172T>A (p.Leu8058Met)
n.2135T>A
c.4222T>A (p.Leu1408Met)
n.9079T>A
c.3325T>A (p.Leu1109Met)
n.8971T>A
n.2001T>A
n.4409T>A
n.2224T>A
c.1852T>A (p.Leu618Met)
c.25492T>A (p.Leu8498Met)
c.25480T>A (p.Leu8494Met)
c.25471T>A (p.Leu8491Met)
c.25441T>A (p.Leu8481Met)
c.25477T>A (p.Leu8493Met)
c.25423T>A (p.Leu8475Met)
c.25420T>A (p.Leu8474Met)
c.25408T>A (p.Leu8470Met)
c.25351T>A (p.Leu8451Met)
c.25339T>A (p.Leu8447Met)
c.25336T>A (p.Leu8446Met)
c.25333T>A (p.Leu8445Met)
c.25489T>A (p.Leu8497Met)
c.25327T>A (p.Leu8443Met)
c.23767T>A (p.Leu7923Met)
c.23260T>A (p.Leu7754Met)
c.18727T>A (p.Leu6243Met)
c.1993T>A (p.Leu665Met)
c.25465T>A (p.Leu8489Met)
c.25414T>A (p.Leu8472Met)
c.25267T>A (p.Leu8423Met)
6g.152140022C>ACA366080197SYNE1c.1920G>T (p.Glu640Asp)
c.25386G>T (p.Glu8462Asp)
c.25242G>T (p.Glu8414Asp)
c.788G>T
c.1121G>T
c.1030G>T
c.1158G>T (p.Glu386Asp)
c.24171G>T (p.Glu8057Asp)
n.2134G>T
c.4221G>T (p.Glu1407Asp)
n.9078G>T
c.3324G>T (p.Glu1108Asp)
n.8970G>T
n.2000G>T
n.4408G>T
n.2223G>T
c.1851G>T (p.Glu617Asp)
c.25491G>T (p.Glu8497Asp)
c.25479G>T (p.Glu8493Asp)
c.25470G>T (p.Glu8490Asp)
c.25440G>T (p.Glu8480Asp)
c.25476G>T (p.Glu8492Asp)
c.25422G>T (p.Glu8474Asp)
c.25419G>T (p.Glu8473Asp)
c.25407G>T (p.Glu8469Asp)
c.25350G>T (p.Glu8450Asp)
c.25338G>T (p.Glu8446Asp)
c.25335G>T (p.Glu8445Asp)
c.25332G>T (p.Glu8444Asp)
c.25488G>T (p.Glu8496Asp)
c.25326G>T (p.Glu8442Asp)
c.23766G>T (p.Glu7922Asp)
c.23259G>T (p.Glu7753Asp)
c.18726G>T (p.Glu6242Asp)
c.1992G>T (p.Glu664Asp)
c.25464G>T (p.Glu8488Asp)
c.25413G>T (p.Glu8471Asp)
c.25266G>T (p.Glu8422Asp)
6g.152140022C=CA1673206244SYNE1c.1920G= (p.Glu640=)
c.25386G= (p.Glu8462=)
c.25242G= (p.Glu8414=)
c.788G=
c.1121G=
c.1030G=
c.1158G= (p.Glu386=)
c.24171G= (p.Glu8057=)
n.2134G=
c.4221G= (p.Glu1407=)
n.9078G=
c.3324G= (p.Glu1108=)
n.8970G=
n.2000G=
n.4408G=
n.2223G=
c.1851G= (p.Glu617=)
c.25491G= (p.Glu8497=)
c.25479G= (p.Glu8493=)
c.25470G= (p.Glu8490=)
c.25440G= (p.Glu8480=)
c.25476G= (p.Glu8492=)
c.25422G= (p.Glu8474=)
c.25419G= (p.Glu8473=)
c.25407G= (p.Glu8469=)
c.25350G= (p.Glu8450=)
c.25338G= (p.Glu8446=)
c.25335G= (p.Glu8445=)
c.25332G= (p.Glu8444=)
c.25488G= (p.Glu8496=)
c.25326G= (p.Glu8442=)
c.23766G= (p.Glu7922=)
c.23259G= (p.Glu7753=)
c.18726G= (p.Glu6242=)
c.1992G= (p.Glu664=)
c.25464G= (p.Glu8488=)
c.25413G= (p.Glu8471=)
c.25266G= (p.Glu8422=)
6g.152140022C>GCA366080199SYNE1c.1920G>C (p.Glu640Asp)
c.25386G>C (p.Glu8462Asp)
c.25242G>C (p.Glu8414Asp)
c.788G>C
c.1121G>C
c.1030G>C
c.1158G>C (p.Glu386Asp)
c.24171G>C (p.Glu8057Asp)
n.2134G>C
c.4221G>C (p.Glu1407Asp)
n.9078G>C
c.3324G>C (p.Glu1108Asp)
n.8970G>C
n.2000G>C
n.4408G>C
n.2223G>C
c.1851G>C (p.Glu617Asp)
c.25491G>C (p.Glu8497Asp)
c.25479G>C (p.Glu8493Asp)
c.25470G>C (p.Glu8490Asp)
c.25440G>C (p.Glu8480Asp)
c.25476G>C (p.Glu8492Asp)
c.25422G>C (p.Glu8474Asp)
c.25419G>C (p.Glu8473Asp)
c.25407G>C (p.Glu8469Asp)
c.25350G>C (p.Glu8450Asp)
c.25338G>C (p.Glu8446Asp)
c.25335G>C (p.Glu8445Asp)
c.25332G>C (p.Glu8444Asp)
c.25488G>C (p.Glu8496Asp)
c.25326G>C (p.Glu8442Asp)
c.23766G>C (p.Glu7922Asp)
c.23259G>C (p.Glu7753Asp)
c.18726G>C (p.Glu6242Asp)
c.1992G>C (p.Glu664Asp)
c.25464G>C (p.Glu8488Asp)
c.25413G>C (p.Glu8471Asp)
c.25266G>C (p.Glu8422Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140022C>TCA452969858SYNE1c.1920G>A (p.Glu640=)
c.25386G>A (p.Glu8462=)
c.25242G>A (p.Glu8414=)
c.788G>A
c.1121G>A
c.1030G>A
c.1158G>A (p.Glu386=)
c.24171G>A (p.Glu8057=)
n.2134G>A
c.4221G>A (p.Glu1407=)
n.9078G>A
c.3324G>A (p.Glu1108=)
n.8970G>A
n.2000G>A
n.4408G>A
n.2223G>A
c.1851G>A (p.Glu617=)
c.25491G>A (p.Glu8497=)
c.25479G>A (p.Glu8493=)
c.25470G>A (p.Glu8490=)
c.25440G>A (p.Glu8480=)
c.25476G>A (p.Glu8492=)
c.25422G>A (p.Glu8474=)
c.25419G>A (p.Glu8473=)
c.25407G>A (p.Glu8469=)
c.25350G>A (p.Glu8450=)
c.25338G>A (p.Glu8446=)
c.25335G>A (p.Glu8445=)
c.25332G>A (p.Glu8444=)
c.25488G>A (p.Glu8496=)
c.25326G>A (p.Glu8442=)
c.23766G>A (p.Glu7922=)
c.23259G>A (p.Glu7753=)
c.18726G>A (p.Glu6242=)
c.1992G>A (p.Glu664=)
c.25464G>A (p.Glu8488=)
c.25413G>A (p.Glu8471=)
c.25266G>A (p.Glu8422=)
 gnomAD v4
6g.152140023T>ACA366080200SYNE1c.1919A>T (p.Glu640Val)
c.25385A>T (p.Glu8462Val)
c.25241A>T (p.Glu8414Val)
c.787A>T
c.1120A>T
c.1029A>T
c.1157A>T (p.Glu386Val)
c.24170A>T (p.Glu8057Val)
n.2133A>T
c.4220A>T (p.Glu1407Val)
n.9077A>T
c.3323A>T (p.Glu1108Val)
n.8969A>T
n.1999A>T
n.4407A>T
n.2222A>T
c.1850A>T (p.Glu617Val)
c.25490A>T (p.Glu8497Val)
c.25478A>T (p.Glu8493Val)
c.25469A>T (p.Glu8490Val)
c.25439A>T (p.Glu8480Val)
c.25475A>T (p.Glu8492Val)
c.25421A>T (p.Glu8474Val)
c.25418A>T (p.Glu8473Val)
c.25406A>T (p.Glu8469Val)
c.25349A>T (p.Glu8450Val)
c.25337A>T (p.Glu8446Val)
c.25334A>T (p.Glu8445Val)
c.25331A>T (p.Glu8444Val)
c.25487A>T (p.Glu8496Val)
c.25325A>T (p.Glu8442Val)
c.23765A>T (p.Glu7922Val)
c.23258A>T (p.Glu7753Val)
c.18725A>T (p.Glu6242Val)
c.1991A>T (p.Glu664Val)
c.25463A>T (p.Glu8488Val)
c.25412A>T (p.Glu8471Val)
c.25265A>T (p.Glu8422Val)
 dbSNP gnomAD v2 gnomAD v4
6g.152140023T>CCA366080202SYNE1c.1919A>G (p.Glu640Gly)
c.25385A>G (p.Glu8462Gly)
c.25241A>G (p.Glu8414Gly)
c.787A>G
c.1120A>G
c.1029A>G
c.1157A>G (p.Glu386Gly)
c.24170A>G (p.Glu8057Gly)
n.2133A>G
c.4220A>G (p.Glu1407Gly)
n.9077A>G
c.3323A>G (p.Glu1108Gly)
n.8969A>G
n.1999A>G
n.4407A>G
n.2222A>G
c.1850A>G (p.Glu617Gly)
c.25490A>G (p.Glu8497Gly)
c.25478A>G (p.Glu8493Gly)
c.25469A>G (p.Glu8490Gly)
c.25439A>G (p.Glu8480Gly)
c.25475A>G (p.Glu8492Gly)
c.25421A>G (p.Glu8474Gly)
c.25418A>G (p.Glu8473Gly)
c.25406A>G (p.Glu8469Gly)
c.25349A>G (p.Glu8450Gly)
c.25337A>G (p.Glu8446Gly)
c.25334A>G (p.Glu8445Gly)
c.25331A>G (p.Glu8444Gly)
c.25487A>G (p.Glu8496Gly)
c.25325A>G (p.Glu8442Gly)
c.23765A>G (p.Glu7922Gly)
c.23258A>G (p.Glu7753Gly)
c.18725A>G (p.Glu6242Gly)
c.1991A>G (p.Glu664Gly)
c.25463A>G (p.Glu8488Gly)
c.25412A>G (p.Glu8471Gly)
c.25265A>G (p.Glu8422Gly)
6g.152140023T>GCA366080203SYNE1c.1919A>C (p.Glu640Ala)
c.25385A>C (p.Glu8462Ala)
c.25241A>C (p.Glu8414Ala)
c.787A>C
c.1120A>C
c.1029A>C
c.1157A>C (p.Glu386Ala)
c.24170A>C (p.Glu8057Ala)
n.2133A>C
c.4220A>C (p.Glu1407Ala)
n.9077A>C
c.3323A>C (p.Glu1108Ala)
n.8969A>C
n.1999A>C
n.4407A>C
n.2222A>C
c.1850A>C (p.Glu617Ala)
c.25490A>C (p.Glu8497Ala)
c.25478A>C (p.Glu8493Ala)
c.25469A>C (p.Glu8490Ala)
c.25439A>C (p.Glu8480Ala)
c.25475A>C (p.Glu8492Ala)
c.25421A>C (p.Glu8474Ala)
c.25418A>C (p.Glu8473Ala)
c.25406A>C (p.Glu8469Ala)
c.25349A>C (p.Glu8450Ala)
c.25337A>C (p.Glu8446Ala)
c.25334A>C (p.Glu8445Ala)
c.25331A>C (p.Glu8444Ala)
c.25487A>C (p.Glu8496Ala)
c.25325A>C (p.Glu8442Ala)
c.23765A>C (p.Glu7922Ala)
c.23258A>C (p.Glu7753Ala)
c.18725A>C (p.Glu6242Ala)
c.1991A>C (p.Glu664Ala)
c.25463A>C (p.Glu8488Ala)
c.25412A>C (p.Glu8471Ala)
c.25265A>C (p.Glu8422Ala)
6g.152140023T=CA1673206249SYNE1c.1919A= (p.Glu640=)
c.25385A= (p.Glu8462=)
c.25241A= (p.Glu8414=)
c.787A=
c.1120A=
c.1029A=
c.1157A= (p.Glu386=)
c.24170A= (p.Glu8057=)
n.2133A=
c.4220A= (p.Glu1407=)
n.9077A=
c.3323A= (p.Glu1108=)
n.8969A=
n.1999A=
n.4407A=
n.2222A=
c.1850A= (p.Glu617=)
c.25490A= (p.Glu8497=)
c.25478A= (p.Glu8493=)
c.25469A= (p.Glu8490=)
c.25439A= (p.Glu8480=)
c.25475A= (p.Glu8492=)
c.25421A= (p.Glu8474=)
c.25418A= (p.Glu8473=)
c.25406A= (p.Glu8469=)
c.25349A= (p.Glu8450=)
c.25337A= (p.Glu8446=)
c.25334A= (p.Glu8445=)
c.25331A= (p.Glu8444=)
c.25487A= (p.Glu8496=)
c.25325A= (p.Glu8442=)
c.23765A= (p.Glu7922=)
c.23258A= (p.Glu7753=)
c.18725A= (p.Glu6242=)
c.1991A= (p.Glu664=)
c.25463A= (p.Glu8488=)
c.25412A= (p.Glu8471=)
c.25265A= (p.Glu8422=)
6g.152140024C>ACA366080207SYNE1c.1918G>T (p.Glu640Ter)
c.25384G>T (p.Glu8462Ter)
c.25240G>T (p.Glu8414Ter)
c.786G>T
c.1119G>T
c.1028G>T
c.1156G>T (p.Glu386Ter)
c.24169G>T (p.Glu8057Ter)
n.2132G>T
c.4219G>T (p.Glu1407Ter)
n.9076G>T
c.3322G>T (p.Glu1108Ter)
n.8968G>T
n.1998G>T
n.4406G>T
n.2221G>T
c.1849G>T (p.Glu617Ter)
c.25489G>T (p.Glu8497Ter)
c.25477G>T (p.Glu8493Ter)
c.25468G>T (p.Glu8490Ter)
c.25438G>T (p.Glu8480Ter)
c.25474G>T (p.Glu8492Ter)
c.25420G>T (p.Glu8474Ter)
c.25417G>T (p.Glu8473Ter)
c.25405G>T (p.Glu8469Ter)
c.25348G>T (p.Glu8450Ter)
c.25336G>T (p.Glu8446Ter)
c.25333G>T (p.Glu8445Ter)
c.25330G>T (p.Glu8444Ter)
c.25486G>T (p.Glu8496Ter)
c.25324G>T (p.Glu8442Ter)
c.23764G>T (p.Glu7922Ter)
c.23257G>T (p.Glu7753Ter)
c.18724G>T (p.Glu6242Ter)
c.1990G>T (p.Glu664Ter)
c.25462G>T (p.Glu8488Ter)
c.25411G>T (p.Glu8471Ter)
c.25264G>T (p.Glu8422Ter)
6g.152140024C=CA1673206252SYNE1c.1918G= (p.Glu640=)
c.25384G= (p.Glu8462=)
c.25240G= (p.Glu8414=)
c.786G=
c.1119G=
c.1028G=
c.1156G= (p.Glu386=)
c.24169G= (p.Glu8057=)
n.2132G=
c.4219G= (p.Glu1407=)
n.9076G=
c.3322G= (p.Glu1108=)
n.8968G=
n.1998G=
n.4406G=
n.2221G=
c.1849G= (p.Glu617=)
c.25489G= (p.Glu8497=)
c.25477G= (p.Glu8493=)
c.25468G= (p.Glu8490=)
c.25438G= (p.Glu8480=)
c.25474G= (p.Glu8492=)
c.25420G= (p.Glu8474=)
c.25417G= (p.Glu8473=)
c.25405G= (p.Glu8469=)
c.25348G= (p.Glu8450=)
c.25336G= (p.Glu8446=)
c.25333G= (p.Glu8445=)
c.25330G= (p.Glu8444=)
c.25486G= (p.Glu8496=)
c.25324G= (p.Glu8442=)
c.23764G= (p.Glu7922=)
c.23257G= (p.Glu7753=)
c.18724G= (p.Glu6242=)
c.1990G= (p.Glu664=)
c.25462G= (p.Glu8488=)
c.25411G= (p.Glu8471=)
c.25264G= (p.Glu8422=)
6g.152140024C>GCA366080206SYNE1c.1918G>C (p.Glu640Gln)
c.25384G>C (p.Glu8462Gln)
c.25240G>C (p.Glu8414Gln)
c.786G>C
c.1119G>C
c.1028G>C
c.1156G>C (p.Glu386Gln)
c.24169G>C (p.Glu8057Gln)
n.2132G>C
c.4219G>C (p.Glu1407Gln)
n.9076G>C
c.3322G>C (p.Glu1108Gln)
n.8968G>C
n.1998G>C
n.4406G>C
n.2221G>C
c.1849G>C (p.Glu617Gln)
c.25489G>C (p.Glu8497Gln)
c.25477G>C (p.Glu8493Gln)
c.25468G>C (p.Glu8490Gln)
c.25438G>C (p.Glu8480Gln)
c.25474G>C (p.Glu8492Gln)
c.25420G>C (p.Glu8474Gln)
c.25417G>C (p.Glu8473Gln)
c.25405G>C (p.Glu8469Gln)
c.25348G>C (p.Glu8450Gln)
c.25336G>C (p.Glu8446Gln)
c.25333G>C (p.Glu8445Gln)
c.25330G>C (p.Glu8444Gln)
c.25486G>C (p.Glu8496Gln)
c.25324G>C (p.Glu8442Gln)
c.23764G>C (p.Glu7922Gln)
c.23257G>C (p.Glu7753Gln)
c.18724G>C (p.Glu6242Gln)
c.1990G>C (p.Glu664Gln)
c.25462G>C (p.Glu8488Gln)
c.25411G>C (p.Glu8471Gln)
c.25264G>C (p.Glu8422Gln)
6g.152140024C>TCA4052854SYNE1c.1918G>A (p.Glu640Lys)
c.25384G>A (p.Glu8462Lys)
c.25240G>A (p.Glu8414Lys)
c.786G>A
c.1119G>A
c.1028G>A
c.1156G>A (p.Glu386Lys)
c.24169G>A (p.Glu8057Lys)
n.2132G>A
c.4219G>A (p.Glu1407Lys)
n.9076G>A
c.3322G>A (p.Glu1108Lys)
n.8968G>A
n.1998G>A
n.4406G>A
n.2221G>A
c.1849G>A (p.Glu617Lys)
c.25489G>A (p.Glu8497Lys)
c.25477G>A (p.Glu8493Lys)
c.25468G>A (p.Glu8490Lys)
c.25438G>A (p.Glu8480Lys)
c.25474G>A (p.Glu8492Lys)
c.25420G>A (p.Glu8474Lys)
c.25417G>A (p.Glu8473Lys)
c.25405G>A (p.Glu8469Lys)
c.25348G>A (p.Glu8450Lys)
c.25336G>A (p.Glu8446Lys)
c.25333G>A (p.Glu8445Lys)
c.25330G>A (p.Glu8444Lys)
c.25486G>A (p.Glu8496Lys)
c.25324G>A (p.Glu8442Lys)
c.23764G>A (p.Glu7922Lys)
c.23257G>A (p.Glu7753Lys)
c.18724G>A (p.Glu6242Lys)
c.1990G>A (p.Glu664Lys)
c.25462G>A (p.Glu8488Lys)
c.25411G>A (p.Glu8471Lys)
c.25264G>A (p.Glu8422Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140025C>ACA366080209SYNE1c.1917G>T (p.Glu639Asp)
c.25383G>T (p.Glu8461Asp)
c.25239G>T (p.Glu8413Asp)
c.785G>T
c.1118G>T
c.1027G>T
c.1155G>T (p.Glu385Asp)
c.24168G>T (p.Glu8056Asp)
n.2131G>T
c.4218G>T (p.Glu1406Asp)
n.9075G>T
c.3321G>T (p.Glu1107Asp)
n.8967G>T
n.1997G>T
n.4405G>T
n.2220G>T
c.1848G>T (p.Glu616Asp)
c.25488G>T (p.Glu8496Asp)
c.25476G>T (p.Glu8492Asp)
c.25467G>T (p.Glu8489Asp)
c.25437G>T (p.Glu8479Asp)
c.25473G>T (p.Glu8491Asp)
c.25419G>T (p.Glu8473Asp)
c.25416G>T (p.Glu8472Asp)
c.25404G>T (p.Glu8468Asp)
c.25347G>T (p.Glu8449Asp)
c.25335G>T (p.Glu8445Asp)
c.25332G>T (p.Glu8444Asp)
c.25329G>T (p.Glu8443Asp)
c.25485G>T (p.Glu8495Asp)
c.25323G>T (p.Glu8441Asp)
c.23763G>T (p.Glu7921Asp)
c.23256G>T (p.Glu7752Asp)
c.18723G>T (p.Glu6241Asp)
c.1989G>T (p.Glu663Asp)
c.25461G>T (p.Glu8487Asp)
c.25410G>T (p.Glu8470Asp)
c.25263G>T (p.Glu8421Asp)
6g.152140025C>GCA366080210SYNE1c.1917G>C (p.Glu639Asp)
c.25383G>C (p.Glu8461Asp)
c.25239G>C (p.Glu8413Asp)
c.785G>C
c.1118G>C
c.1027G>C
c.1155G>C (p.Glu385Asp)
c.24168G>C (p.Glu8056Asp)
n.2131G>C
c.4218G>C (p.Glu1406Asp)
n.9075G>C
c.3321G>C (p.Glu1107Asp)
n.8967G>C
n.1997G>C
n.4405G>C
n.2220G>C
c.1848G>C (p.Glu616Asp)
c.25488G>C (p.Glu8496Asp)
c.25476G>C (p.Glu8492Asp)
c.25467G>C (p.Glu8489Asp)
c.25437G>C (p.Glu8479Asp)
c.25473G>C (p.Glu8491Asp)
c.25419G>C (p.Glu8473Asp)
c.25416G>C (p.Glu8472Asp)
c.25404G>C (p.Glu8468Asp)
c.25347G>C (p.Glu8449Asp)
c.25335G>C (p.Glu8445Asp)
c.25332G>C (p.Glu8444Asp)
c.25329G>C (p.Glu8443Asp)
c.25485G>C (p.Glu8495Asp)
c.25323G>C (p.Glu8441Asp)
c.23763G>C (p.Glu7921Asp)
c.23256G>C (p.Glu7752Asp)
c.18723G>C (p.Glu6241Asp)
c.1989G>C (p.Glu663Asp)
c.25461G>C (p.Glu8487Asp)
c.25410G>C (p.Glu8470Asp)
c.25263G>C (p.Glu8421Asp)
6g.152140025C>TCA452969859SYNE1c.1917G>A (p.Glu639=)
c.25383G>A (p.Glu8461=)
c.25239G>A (p.Glu8413=)
c.785G>A
c.1118G>A
c.1027G>A
c.1155G>A (p.Glu385=)
c.24168G>A (p.Glu8056=)
n.2131G>A
c.4218G>A (p.Glu1406=)
n.9075G>A
c.3321G>A (p.Glu1107=)
n.8967G>A
n.1997G>A
n.4405G>A
n.2220G>A
c.1848G>A (p.Glu616=)
c.25488G>A (p.Glu8496=)
c.25476G>A (p.Glu8492=)
c.25467G>A (p.Glu8489=)
c.25437G>A (p.Glu8479=)
c.25473G>A (p.Glu8491=)
c.25419G>A (p.Glu8473=)
c.25416G>A (p.Glu8472=)
c.25404G>A (p.Glu8468=)
c.25347G>A (p.Glu8449=)
c.25335G>A (p.Glu8445=)
c.25332G>A (p.Glu8444=)
c.25329G>A (p.Glu8443=)
c.25485G>A (p.Glu8495=)
c.25323G>A (p.Glu8441=)
c.23763G>A (p.Glu7921=)
c.23256G>A (p.Glu7752=)
c.18723G>A (p.Glu6241=)
c.1989G>A (p.Glu663=)
c.25461G>A (p.Glu8487=)
c.25410G>A (p.Glu8470=)
c.25263G>A (p.Glu8421=)
 ClinVar dbSNP
6g.152140026T>ACA366080212SYNE1c.1916A>T (p.Glu639Val)
c.25382A>T (p.Glu8461Val)
c.25238A>T (p.Glu8413Val)
c.784A>T
c.1117A>T
c.1026A>T
c.1154A>T (p.Glu385Val)
c.24167A>T (p.Glu8056Val)
n.2130A>T
c.4217A>T (p.Glu1406Val)
n.9074A>T
c.3320A>T (p.Glu1107Val)
n.8966A>T
n.1996A>T
n.4404A>T
n.2219A>T
c.1847A>T (p.Glu616Val)
c.25487A>T (p.Glu8496Val)
c.25475A>T (p.Glu8492Val)
c.25466A>T (p.Glu8489Val)
c.25436A>T (p.Glu8479Val)
c.25472A>T (p.Glu8491Val)
c.25418A>T (p.Glu8473Val)
c.25415A>T (p.Glu8472Val)
c.25403A>T (p.Glu8468Val)
c.25346A>T (p.Glu8449Val)
c.25334A>T (p.Glu8445Val)
c.25331A>T (p.Glu8444Val)
c.25328A>T (p.Glu8443Val)
c.25484A>T (p.Glu8495Val)
c.25322A>T (p.Glu8441Val)
c.23762A>T (p.Glu7921Val)
c.23255A>T (p.Glu7752Val)
c.18722A>T (p.Glu6241Val)
c.1988A>T (p.Glu663Val)
c.25460A>T (p.Glu8487Val)
c.25409A>T (p.Glu8470Val)
c.25262A>T (p.Glu8421Val)
6g.152140026T>CCA366080214SYNE1c.1916A>G (p.Glu639Gly)
c.25382A>G (p.Glu8461Gly)
c.25238A>G (p.Glu8413Gly)
c.784A>G
c.1117A>G
c.1026A>G
c.1154A>G (p.Glu385Gly)
c.24167A>G (p.Glu8056Gly)
n.2130A>G
c.4217A>G (p.Glu1406Gly)
n.9074A>G
c.3320A>G (p.Glu1107Gly)
n.8966A>G
n.1996A>G
n.4404A>G
n.2219A>G
c.1847A>G (p.Glu616Gly)
c.25487A>G (p.Glu8496Gly)
c.25475A>G (p.Glu8492Gly)
c.25466A>G (p.Glu8489Gly)
c.25436A>G (p.Glu8479Gly)
c.25472A>G (p.Glu8491Gly)
c.25418A>G (p.Glu8473Gly)
c.25415A>G (p.Glu8472Gly)
c.25403A>G (p.Glu8468Gly)
c.25346A>G (p.Glu8449Gly)
c.25334A>G (p.Glu8445Gly)
c.25331A>G (p.Glu8444Gly)
c.25328A>G (p.Glu8443Gly)
c.25484A>G (p.Glu8495Gly)
c.25322A>G (p.Glu8441Gly)
c.23762A>G (p.Glu7921Gly)
c.23255A>G (p.Glu7752Gly)
c.18722A>G (p.Glu6241Gly)
c.1988A>G (p.Glu663Gly)
c.25460A>G (p.Glu8487Gly)
c.25409A>G (p.Glu8470Gly)
c.25262A>G (p.Glu8421Gly)
 dbSNP
6g.152140026T>GCA366080215SYNE1c.1916A>C (p.Glu639Ala)
c.25382A>C (p.Glu8461Ala)
c.25238A>C (p.Glu8413Ala)
c.784A>C
c.1117A>C
c.1026A>C
c.1154A>C (p.Glu385Ala)
c.24167A>C (p.Glu8056Ala)
n.2130A>C
c.4217A>C (p.Glu1406Ala)
n.9074A>C
c.3320A>C (p.Glu1107Ala)
n.8966A>C
n.1996A>C
n.4404A>C
n.2219A>C
c.1847A>C (p.Glu616Ala)
c.25487A>C (p.Glu8496Ala)
c.25475A>C (p.Glu8492Ala)
c.25466A>C (p.Glu8489Ala)
c.25436A>C (p.Glu8479Ala)
c.25472A>C (p.Glu8491Ala)
c.25418A>C (p.Glu8473Ala)
c.25415A>C (p.Glu8472Ala)
c.25403A>C (p.Glu8468Ala)
c.25346A>C (p.Glu8449Ala)
c.25334A>C (p.Glu8445Ala)
c.25331A>C (p.Glu8444Ala)
c.25328A>C (p.Glu8443Ala)
c.25484A>C (p.Glu8495Ala)
c.25322A>C (p.Glu8441Ala)
c.23762A>C (p.Glu7921Ala)
c.23255A>C (p.Glu7752Ala)
c.18722A>C (p.Glu6241Ala)
c.1988A>C (p.Glu663Ala)
c.25460A>C (p.Glu8487Ala)
c.25409A>C (p.Glu8470Ala)
c.25262A>C (p.Glu8421Ala)
6g.152140026T=CA1673206256SYNE1c.1916A= (p.Glu639=)
c.25382A= (p.Glu8461=)
c.25238A= (p.Glu8413=)
c.784A=
c.1117A=
c.1026A=
c.1154A= (p.Glu385=)
c.24167A= (p.Glu8056=)
n.2130A=
c.4217A= (p.Glu1406=)
n.9074A=
c.3320A= (p.Glu1107=)
n.8966A=
n.1996A=
n.4404A=
n.2219A=
c.1847A= (p.Glu616=)
c.25487A= (p.Glu8496=)
c.25475A= (p.Glu8492=)
c.25466A= (p.Glu8489=)
c.25436A= (p.Glu8479=)
c.25472A= (p.Glu8491=)
c.25418A= (p.Glu8473=)
c.25415A= (p.Glu8472=)
c.25403A= (p.Glu8468=)
c.25346A= (p.Glu8449=)
c.25334A= (p.Glu8445=)
c.25331A= (p.Glu8444=)
c.25328A= (p.Glu8443=)
c.25484A= (p.Glu8495=)
c.25322A= (p.Glu8441=)
c.23762A= (p.Glu7921=)
c.23255A= (p.Glu7752=)
c.18722A= (p.Glu6241=)
c.1988A= (p.Glu663=)
c.25460A= (p.Glu8487=)
c.25409A= (p.Glu8470=)
c.25262A= (p.Glu8421=)
6g.152140027C>ACA366080217SYNE1c.1915G>T (p.Glu639Ter)
c.25381G>T (p.Glu8461Ter)
c.25237G>T (p.Glu8413Ter)
c.783G>T
c.1116G>T
c.1025G>T
c.1153G>T (p.Glu385Ter)
c.24166G>T (p.Glu8056Ter)
n.2129G>T
c.4216G>T (p.Glu1406Ter)
n.9073G>T
c.3319G>T (p.Glu1107Ter)
n.8965G>T
n.1995G>T
n.4403G>T
n.2218G>T
c.1846G>T (p.Glu616Ter)
c.25486G>T (p.Glu8496Ter)
c.25474G>T (p.Glu8492Ter)
c.25465G>T (p.Glu8489Ter)
c.25435G>T (p.Glu8479Ter)
c.25471G>T (p.Glu8491Ter)
c.25417G>T (p.Glu8473Ter)
c.25414G>T (p.Glu8472Ter)
c.25402G>T (p.Glu8468Ter)
c.25345G>T (p.Glu8449Ter)
c.25333G>T (p.Glu8445Ter)
c.25330G>T (p.Glu8444Ter)
c.25327G>T (p.Glu8443Ter)
c.25483G>T (p.Glu8495Ter)
c.25321G>T (p.Glu8441Ter)
c.23761G>T (p.Glu7921Ter)
c.23254G>T (p.Glu7752Ter)
c.18721G>T (p.Glu6241Ter)
c.1987G>T (p.Glu663Ter)
c.25459G>T (p.Glu8487Ter)
c.25408G>T (p.Glu8470Ter)
c.25261G>T (p.Glu8421Ter)
6g.152140027C=CA1673206260SYNE1c.1915G= (p.Glu639=)
c.25381G= (p.Glu8461=)
c.25237G= (p.Glu8413=)
c.783G=
c.1116G=
c.1025G=
c.1153G= (p.Glu385=)
c.24166G= (p.Glu8056=)
n.2129G=
c.4216G= (p.Glu1406=)
n.9073G=
c.3319G= (p.Glu1107=)
n.8965G=
n.1995G=
n.4403G=
n.2218G=
c.1846G= (p.Glu616=)
c.25486G= (p.Glu8496=)
c.25474G= (p.Glu8492=)
c.25465G= (p.Glu8489=)
c.25435G= (p.Glu8479=)
c.25471G= (p.Glu8491=)
c.25417G= (p.Glu8473=)
c.25414G= (p.Glu8472=)
c.25402G= (p.Glu8468=)
c.25345G= (p.Glu8449=)
c.25333G= (p.Glu8445=)
c.25330G= (p.Glu8444=)
c.25327G= (p.Glu8443=)
c.25483G= (p.Glu8495=)
c.25321G= (p.Glu8441=)
c.23761G= (p.Glu7921=)
c.23254G= (p.Glu7752=)
c.18721G= (p.Glu6241=)
c.1987G= (p.Glu663=)
c.25459G= (p.Glu8487=)
c.25408G= (p.Glu8470=)
c.25261G= (p.Glu8421=)
6g.152140027C>GCA366080219SYNE1c.1915G>C (p.Glu639Gln)
c.25381G>C (p.Glu8461Gln)
c.25237G>C (p.Glu8413Gln)
c.783G>C
c.1116G>C
c.1025G>C
c.1153G>C (p.Glu385Gln)
c.24166G>C (p.Glu8056Gln)
n.2129G>C
c.4216G>C (p.Glu1406Gln)
n.9073G>C
c.3319G>C (p.Glu1107Gln)
n.8965G>C
n.1995G>C
n.4403G>C
n.2218G>C
c.1846G>C (p.Glu616Gln)
c.25486G>C (p.Glu8496Gln)
c.25474G>C (p.Glu8492Gln)
c.25465G>C (p.Glu8489Gln)
c.25435G>C (p.Glu8479Gln)
c.25471G>C (p.Glu8491Gln)
c.25417G>C (p.Glu8473Gln)
c.25414G>C (p.Glu8472Gln)
c.25402G>C (p.Glu8468Gln)
c.25345G>C (p.Glu8449Gln)
c.25333G>C (p.Glu8445Gln)
c.25330G>C (p.Glu8444Gln)
c.25327G>C (p.Glu8443Gln)
c.25483G>C (p.Glu8495Gln)
c.25321G>C (p.Glu8441Gln)
c.23761G>C (p.Glu7921Gln)
c.23254G>C (p.Glu7752Gln)
c.18721G>C (p.Glu6241Gln)
c.1987G>C (p.Glu663Gln)
c.25459G>C (p.Glu8487Gln)
c.25408G>C (p.Glu8470Gln)
c.25261G>C (p.Glu8421Gln)
6g.152140027C>TCA115488SYNE1c.1915G>A (p.Glu639Lys)
c.25381G>A (p.Glu8461Lys)
c.25237G>A (p.Glu8413Lys)
c.783G>A
c.1116G>A
c.1025G>A
c.1153G>A (p.Glu385Lys)
c.24166G>A (p.Glu8056Lys)
n.2129G>A
c.4216G>A (p.Glu1406Lys)
n.9073G>A
c.3319G>A (p.Glu1107Lys)
n.8965G>A
n.1995G>A
n.4403G>A
n.2218G>A
c.1846G>A (p.Glu616Lys)
c.25486G>A (p.Glu8496Lys)
c.25474G>A (p.Glu8492Lys)
c.25465G>A (p.Glu8489Lys)
c.25435G>A (p.Glu8479Lys)
c.25471G>A (p.Glu8491Lys)
c.25417G>A (p.Glu8473Lys)
c.25414G>A (p.Glu8472Lys)
c.25402G>A (p.Glu8468Lys)
c.25345G>A (p.Glu8449Lys)
c.25333G>A (p.Glu8445Lys)
c.25330G>A (p.Glu8444Lys)
c.25327G>A (p.Glu8443Lys)
c.25483G>A (p.Glu8495Lys)
c.25321G>A (p.Glu8441Lys)
c.23761G>A (p.Glu7921Lys)
c.23254G>A (p.Glu7752Lys)
c.18721G>A (p.Glu6241Lys)
c.1987G>A (p.Glu663Lys)
c.25459G>A (p.Glu8487Lys)
c.25408G>A (p.Glu8470Lys)
c.25261G>A (p.Glu8421Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140028C>ACA366080221SYNE1c.1914G>T (p.Glu638Asp)
c.25380G>T (p.Glu8460Asp)
c.25236G>T (p.Glu8412Asp)
c.782G>T
c.1115G>T
c.1024G>T
c.1152G>T (p.Glu384Asp)
c.24165G>T (p.Glu8055Asp)
n.2128G>T
c.4215G>T (p.Glu1405Asp)
n.9072G>T
c.3318G>T (p.Glu1106Asp)
n.8964G>T
n.1994G>T
n.4402G>T
n.2217G>T
c.1845G>T (p.Glu615Asp)
c.25485G>T (p.Glu8495Asp)
c.25473G>T (p.Glu8491Asp)
c.25464G>T (p.Glu8488Asp)
c.25434G>T (p.Glu8478Asp)
c.25470G>T (p.Glu8490Asp)
c.25416G>T (p.Glu8472Asp)
c.25413G>T (p.Glu8471Asp)
c.25401G>T (p.Glu8467Asp)
c.25344G>T (p.Glu8448Asp)
c.25332G>T (p.Glu8444Asp)
c.25329G>T (p.Glu8443Asp)
c.25326G>T (p.Glu8442Asp)
c.25482G>T (p.Glu8494Asp)
c.25320G>T (p.Glu8440Asp)
c.23760G>T (p.Glu7920Asp)
c.23253G>T (p.Glu7751Asp)
c.18720G>T (p.Glu6240Asp)
c.1986G>T (p.Glu662Asp)
c.25458G>T (p.Glu8486Asp)
c.25407G>T (p.Glu8469Asp)
c.25260G>T (p.Glu8420Asp)
6g.152140028C>GCA366080222SYNE1c.1914G>C (p.Glu638Asp)
c.25380G>C (p.Glu8460Asp)
c.25236G>C (p.Glu8412Asp)
c.782G>C
c.1115G>C
c.1024G>C
c.1152G>C (p.Glu384Asp)
c.24165G>C (p.Glu8055Asp)
n.2128G>C
c.4215G>C (p.Glu1405Asp)
n.9072G>C
c.3318G>C (p.Glu1106Asp)
n.8964G>C
n.1994G>C
n.4402G>C
n.2217G>C
c.1845G>C (p.Glu615Asp)
c.25485G>C (p.Glu8495Asp)
c.25473G>C (p.Glu8491Asp)
c.25464G>C (p.Glu8488Asp)
c.25434G>C (p.Glu8478Asp)
c.25470G>C (p.Glu8490Asp)
c.25416G>C (p.Glu8472Asp)
c.25413G>C (p.Glu8471Asp)
c.25401G>C (p.Glu8467Asp)
c.25344G>C (p.Glu8448Asp)
c.25332G>C (p.Glu8444Asp)
c.25329G>C (p.Glu8443Asp)
c.25326G>C (p.Glu8442Asp)
c.25482G>C (p.Glu8494Asp)
c.25320G>C (p.Glu8440Asp)
c.23760G>C (p.Glu7920Asp)
c.23253G>C (p.Glu7751Asp)
c.18720G>C (p.Glu6240Asp)
c.1986G>C (p.Glu662Asp)
c.25458G>C (p.Glu8486Asp)
c.25407G>C (p.Glu8469Asp)
c.25260G>C (p.Glu8420Asp)
6g.152140028C>TCA452969861SYNE1c.1914G>A (p.Glu638=)
c.25380G>A (p.Glu8460=)
c.25236G>A (p.Glu8412=)
c.782G>A
c.1115G>A
c.1024G>A
c.1152G>A (p.Glu384=)
c.24165G>A (p.Glu8055=)
n.2128G>A
c.4215G>A (p.Glu1405=)
n.9072G>A
c.3318G>A (p.Glu1106=)
n.8964G>A
n.1994G>A
n.4402G>A
n.2217G>A
c.1845G>A (p.Glu615=)
c.25485G>A (p.Glu8495=)
c.25473G>A (p.Glu8491=)
c.25464G>A (p.Glu8488=)
c.25434G>A (p.Glu8478=)
c.25470G>A (p.Glu8490=)
c.25416G>A (p.Glu8472=)
c.25413G>A (p.Glu8471=)
c.25401G>A (p.Glu8467=)
c.25344G>A (p.Glu8448=)
c.25332G>A (p.Glu8444=)
c.25329G>A (p.Glu8443=)
c.25326G>A (p.Glu8442=)
c.25482G>A (p.Glu8494=)
c.25320G>A (p.Glu8440=)
c.23760G>A (p.Glu7920=)
c.23253G>A (p.Glu7751=)
c.18720G>A (p.Glu6240=)
c.1986G>A (p.Glu662=)
c.25458G>A (p.Glu8486=)
c.25407G>A (p.Glu8469=)
c.25260G>A (p.Glu8420=)
6g.152140029T>ACA366080225SYNE1c.1913A>T (p.Glu638Val)
c.25379A>T (p.Glu8460Val)
c.25235A>T (p.Glu8412Val)
c.781A>T
c.1114A>T
c.1023A>T
c.1151A>T (p.Glu384Val)
c.24164A>T (p.Glu8055Val)
n.2127A>T
c.4214A>T (p.Glu1405Val)
n.9071A>T
c.3317A>T (p.Glu1106Val)
n.8963A>T
n.1993A>T
n.4401A>T
n.2216A>T
c.1844A>T (p.Glu615Val)
c.25484A>T (p.Glu8495Val)
c.25472A>T (p.Glu8491Val)
c.25463A>T (p.Glu8488Val)
c.25433A>T (p.Glu8478Val)
c.25469A>T (p.Glu8490Val)
c.25415A>T (p.Glu8472Val)
c.25412A>T (p.Glu8471Val)
c.25400A>T (p.Glu8467Val)
c.25343A>T (p.Glu8448Val)
c.25331A>T (p.Glu8444Val)
c.25328A>T (p.Glu8443Val)
c.25325A>T (p.Glu8442Val)
c.25481A>T (p.Glu8494Val)
c.25319A>T (p.Glu8440Val)
c.23759A>T (p.Glu7920Val)
c.23252A>T (p.Glu7751Val)
c.18719A>T (p.Glu6240Val)
c.1985A>T (p.Glu662Val)
c.25457A>T (p.Glu8486Val)
c.25406A>T (p.Glu8469Val)
c.25259A>T (p.Glu8420Val)
6g.152140029T>CCA366080227SYNE1c.1913A>G (p.Glu638Gly)
c.25379A>G (p.Glu8460Gly)
c.25235A>G (p.Glu8412Gly)
c.781A>G
c.1114A>G
c.1023A>G
c.1151A>G (p.Glu384Gly)
c.24164A>G (p.Glu8055Gly)
n.2127A>G
c.4214A>G (p.Glu1405Gly)
n.9071A>G
c.3317A>G (p.Glu1106Gly)
n.8963A>G
n.1993A>G
n.4401A>G
n.2216A>G
c.1844A>G (p.Glu615Gly)
c.25484A>G (p.Glu8495Gly)
c.25472A>G (p.Glu8491Gly)
c.25463A>G (p.Glu8488Gly)
c.25433A>G (p.Glu8478Gly)
c.25469A>G (p.Glu8490Gly)
c.25415A>G (p.Glu8472Gly)
c.25412A>G (p.Glu8471Gly)
c.25400A>G (p.Glu8467Gly)
c.25343A>G (p.Glu8448Gly)
c.25331A>G (p.Glu8444Gly)
c.25328A>G (p.Glu8443Gly)
c.25325A>G (p.Glu8442Gly)
c.25481A>G (p.Glu8494Gly)
c.25319A>G (p.Glu8440Gly)
c.23759A>G (p.Glu7920Gly)
c.23252A>G (p.Glu7751Gly)
c.18719A>G (p.Glu6240Gly)
c.1985A>G (p.Glu662Gly)
c.25457A>G (p.Glu8486Gly)
c.25406A>G (p.Glu8469Gly)
c.25259A>G (p.Glu8420Gly)
6g.152140029T>GCA366080229SYNE1c.1913A>C (p.Glu638Ala)
c.25379A>C (p.Glu8460Ala)
c.25235A>C (p.Glu8412Ala)
c.781A>C
c.1114A>C
c.1023A>C
c.1151A>C (p.Glu384Ala)
c.24164A>C (p.Glu8055Ala)
n.2127A>C
c.4214A>C (p.Glu1405Ala)
n.9071A>C
c.3317A>C (p.Glu1106Ala)
n.8963A>C
n.1993A>C
n.4401A>C
n.2216A>C
c.1844A>C (p.Glu615Ala)
c.25484A>C (p.Glu8495Ala)
c.25472A>C (p.Glu8491Ala)
c.25463A>C (p.Glu8488Ala)
c.25433A>C (p.Glu8478Ala)
c.25469A>C (p.Glu8490Ala)
c.25415A>C (p.Glu8472Ala)
c.25412A>C (p.Glu8471Ala)
c.25400A>C (p.Glu8467Ala)
c.25343A>C (p.Glu8448Ala)
c.25331A>C (p.Glu8444Ala)
c.25328A>C (p.Glu8443Ala)
c.25325A>C (p.Glu8442Ala)
c.25481A>C (p.Glu8494Ala)
c.25319A>C (p.Glu8440Ala)
c.23759A>C (p.Glu7920Ala)
c.23252A>C (p.Glu7751Ala)
c.18719A>C (p.Glu6240Ala)
c.1985A>C (p.Glu662Ala)
c.25457A>C (p.Glu8486Ala)
c.25406A>C (p.Glu8469Ala)
c.25259A>C (p.Glu8420Ala)
6g.152140030C>ACA366080235SYNE1c.1912G>T (p.Glu638Ter)
c.25378G>T (p.Glu8460Ter)
c.25234G>T (p.Glu8412Ter)
c.780G>T
c.1113G>T
c.1022G>T
c.1150G>T (p.Glu384Ter)
c.24163G>T (p.Glu8055Ter)
n.2126G>T
c.4213G>T (p.Glu1405Ter)
n.9070G>T
c.3316G>T (p.Glu1106Ter)
n.8962G>T
n.1992G>T
n.4400G>T
n.2215G>T
c.1843G>T (p.Glu615Ter)
c.25483G>T (p.Glu8495Ter)
c.25471G>T (p.Glu8491Ter)
c.25462G>T (p.Glu8488Ter)
c.25432G>T (p.Glu8478Ter)
c.25468G>T (p.Glu8490Ter)
c.25414G>T (p.Glu8472Ter)
c.25411G>T (p.Glu8471Ter)
c.25399G>T (p.Glu8467Ter)
c.25342G>T (p.Glu8448Ter)
c.25330G>T (p.Glu8444Ter)
c.25327G>T (p.Glu8443Ter)
c.25324G>T (p.Glu8442Ter)
c.25480G>T (p.Glu8494Ter)
c.25318G>T (p.Glu8440Ter)
c.23758G>T (p.Glu7920Ter)
c.23251G>T (p.Glu7751Ter)
c.18718G>T (p.Glu6240Ter)
c.1984G>T (p.Glu662Ter)
c.25456G>T (p.Glu8486Ter)
c.25405G>T (p.Glu8469Ter)
c.25258G>T (p.Glu8420Ter)
6g.152140030C>GCA366080233SYNE1c.1912G>C (p.Glu638Gln)
c.25378G>C (p.Glu8460Gln)
c.25234G>C (p.Glu8412Gln)
c.780G>C
c.1113G>C
c.1022G>C
c.1150G>C (p.Glu384Gln)
c.24163G>C (p.Glu8055Gln)
n.2126G>C
c.4213G>C (p.Glu1405Gln)
n.9070G>C
c.3316G>C (p.Glu1106Gln)
n.8962G>C
n.1992G>C
n.4400G>C
n.2215G>C
c.1843G>C (p.Glu615Gln)
c.25483G>C (p.Glu8495Gln)
c.25471G>C (p.Glu8491Gln)
c.25462G>C (p.Glu8488Gln)
c.25432G>C (p.Glu8478Gln)
c.25468G>C (p.Glu8490Gln)
c.25414G>C (p.Glu8472Gln)
c.25411G>C (p.Glu8471Gln)
c.25399G>C (p.Glu8467Gln)
c.25342G>C (p.Glu8448Gln)
c.25330G>C (p.Glu8444Gln)
c.25327G>C (p.Glu8443Gln)
c.25324G>C (p.Glu8442Gln)
c.25480G>C (p.Glu8494Gln)
c.25318G>C (p.Glu8440Gln)
c.23758G>C (p.Glu7920Gln)
c.23251G>C (p.Glu7751Gln)
c.18718G>C (p.Glu6240Gln)
c.1984G>C (p.Glu662Gln)
c.25456G>C (p.Glu8486Gln)
c.25405G>C (p.Glu8469Gln)
c.25258G>C (p.Glu8420Gln)
6g.152140030C>TCA366080231SYNE1c.1912G>A (p.Glu638Lys)
c.25378G>A (p.Glu8460Lys)
c.25234G>A (p.Glu8412Lys)
c.780G>A
c.1113G>A
c.1022G>A
c.1150G>A (p.Glu384Lys)
c.24163G>A (p.Glu8055Lys)
n.2126G>A
c.4213G>A (p.Glu1405Lys)
n.9070G>A
c.3316G>A (p.Glu1106Lys)
n.8962G>A
n.1992G>A
n.4400G>A
n.2215G>A
c.1843G>A (p.Glu615Lys)
c.25483G>A (p.Glu8495Lys)
c.25471G>A (p.Glu8491Lys)
c.25462G>A (p.Glu8488Lys)
c.25432G>A (p.Glu8478Lys)
c.25468G>A (p.Glu8490Lys)
c.25414G>A (p.Glu8472Lys)
c.25411G>A (p.Glu8471Lys)
c.25399G>A (p.Glu8467Lys)
c.25342G>A (p.Glu8448Lys)
c.25330G>A (p.Glu8444Lys)
c.25327G>A (p.Glu8443Lys)
c.25324G>A (p.Glu8442Lys)
c.25480G>A (p.Glu8494Lys)
c.25318G>A (p.Glu8440Lys)
c.23758G>A (p.Glu7920Lys)
c.23251G>A (p.Glu7751Lys)
c.18718G>A (p.Glu6240Lys)
c.1984G>A (p.Glu662Lys)
c.25456G>A (p.Glu8486Lys)
c.25405G>A (p.Glu8469Lys)
c.25258G>A (p.Glu8420Lys)
6g.152140031C>ACA452969864SYNE1c.1911G>T (p.Thr637=)
c.25377G>T (p.Thr8459=)
c.25233G>T (p.Thr8411=)
c.779G>T
c.1112G>T
c.1021G>T
c.1149G>T (p.Thr383=)
c.24162G>T (p.Thr8054=)
n.2125G>T
c.4212G>T (p.Thr1404=)
n.9069G>T
c.3315G>T (p.Thr1105=)
n.8961G>T
n.1991G>T
n.4399G>T
n.2214G>T
c.1842G>T (p.Thr614=)
c.25482G>T (p.Thr8494=)
c.25470G>T (p.Thr8490=)
c.25461G>T (p.Thr8487=)
c.25431G>T (p.Thr8477=)
c.25467G>T (p.Thr8489=)
c.25413G>T (p.Thr8471=)
c.25410G>T (p.Thr8470=)
c.25398G>T (p.Thr8466=)
c.25341G>T (p.Thr8447=)
c.25329G>T (p.Thr8443=)
c.25326G>T (p.Thr8442=)
c.25323G>T (p.Thr8441=)
c.25479G>T (p.Thr8493=)
c.25317G>T (p.Thr8439=)
c.23757G>T (p.Thr7919=)
c.23250G>T (p.Thr7750=)
c.18717G>T (p.Thr6239=)
c.1983G>T (p.Thr661=)
c.25455G>T (p.Thr8485=)
c.25404G>T (p.Thr8468=)
c.25257G>T (p.Thr8419=)
6g.152140031C=CA1673206265SYNE1c.1911G= (p.Thr637=)
c.25377G= (p.Thr8459=)
c.25233G= (p.Thr8411=)
c.779G=
c.1112G=
c.1021G=
c.1149G= (p.Thr383=)
c.24162G= (p.Thr8054=)
n.2125G=
c.4212G= (p.Thr1404=)
n.9069G=
c.3315G= (p.Thr1105=)
n.8961G=
n.1991G=
n.4399G=
n.2214G=
c.1842G= (p.Thr614=)
c.25482G= (p.Thr8494=)
c.25470G= (p.Thr8490=)
c.25461G= (p.Thr8487=)
c.25431G= (p.Thr8477=)
c.25467G= (p.Thr8489=)
c.25413G= (p.Thr8471=)
c.25410G= (p.Thr8470=)
c.25398G= (p.Thr8466=)
c.25341G= (p.Thr8447=)
c.25329G= (p.Thr8443=)
c.25326G= (p.Thr8442=)
c.25323G= (p.Thr8441=)
c.25479G= (p.Thr8493=)
c.25317G= (p.Thr8439=)
c.23757G= (p.Thr7919=)
c.23250G= (p.Thr7750=)
c.18717G= (p.Thr6239=)
c.1983G= (p.Thr661=)
c.25455G= (p.Thr8485=)
c.25404G= (p.Thr8468=)
c.25257G= (p.Thr8419=)
6g.152140031C>GCA452969863SYNE1c.1911G>C (p.Thr637=)
c.25377G>C (p.Thr8459=)
c.25233G>C (p.Thr8411=)
c.779G>C
c.1112G>C
c.1021G>C
c.1149G>C (p.Thr383=)
c.24162G>C (p.Thr8054=)
n.2125G>C
c.4212G>C (p.Thr1404=)
n.9069G>C
c.3315G>C (p.Thr1105=)
n.8961G>C
n.1991G>C
n.4399G>C
n.2214G>C
c.1842G>C (p.Thr614=)
c.25482G>C (p.Thr8494=)
c.25470G>C (p.Thr8490=)
c.25461G>C (p.Thr8487=)
c.25431G>C (p.Thr8477=)
c.25467G>C (p.Thr8489=)
c.25413G>C (p.Thr8471=)
c.25410G>C (p.Thr8470=)
c.25398G>C (p.Thr8466=)
c.25341G>C (p.Thr8447=)
c.25329G>C (p.Thr8443=)
c.25326G>C (p.Thr8442=)
c.25323G>C (p.Thr8441=)
c.25479G>C (p.Thr8493=)
c.25317G>C (p.Thr8439=)
c.23757G>C (p.Thr7919=)
c.23250G>C (p.Thr7750=)
c.18717G>C (p.Thr6239=)
c.1983G>C (p.Thr661=)
c.25455G>C (p.Thr8485=)
c.25404G>C (p.Thr8468=)
c.25257G>C (p.Thr8419=)
 ClinVar dbSNP gnomAD v4
6g.152140031C>TCA4052855SYNE1c.1911G>A (p.Thr637=)
c.25377G>A (p.Thr8459=)
c.25233G>A (p.Thr8411=)
c.779G>A
c.1112G>A
c.1021G>A
c.1149G>A (p.Thr383=)
c.24162G>A (p.Thr8054=)
n.2125G>A
c.4212G>A (p.Thr1404=)
n.9069G>A
c.3315G>A (p.Thr1105=)
n.8961G>A
n.1991G>A
n.4399G>A
n.2214G>A
c.1842G>A (p.Thr614=)
c.25482G>A (p.Thr8494=)
c.25470G>A (p.Thr8490=)
c.25461G>A (p.Thr8487=)
c.25431G>A (p.Thr8477=)
c.25467G>A (p.Thr8489=)
c.25413G>A (p.Thr8471=)
c.25410G>A (p.Thr8470=)
c.25398G>A (p.Thr8466=)
c.25341G>A (p.Thr8447=)
c.25329G>A (p.Thr8443=)
c.25326G>A (p.Thr8442=)
c.25323G>A (p.Thr8441=)
c.25479G>A (p.Thr8493=)
c.25317G>A (p.Thr8439=)
c.23757G>A (p.Thr7919=)
c.23250G>A (p.Thr7750=)
c.18717G>A (p.Thr6239=)
c.1983G>A (p.Thr661=)
c.25455G>A (p.Thr8485=)
c.25404G>A (p.Thr8468=)
c.25257G>A (p.Thr8419=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140032G>ACA4052857SYNE1c.1910C>T (p.Thr637Met)
c.25376C>T (p.Thr8459Met)
c.25232C>T (p.Thr8411Met)
c.778C>T
c.1111C>T
c.1020C>T
c.1148C>T (p.Thr383Met)
c.24161C>T (p.Thr8054Met)
n.2124C>T
c.4211C>T (p.Thr1404Met)
n.9068C>T
c.3314C>T (p.Thr1105Met)
n.8960C>T
n.1990C>T
n.4398C>T
n.2213C>T
c.1841C>T (p.Thr614Met)
c.25481C>T (p.Thr8494Met)
c.25469C>T (p.Thr8490Met)
c.25460C>T (p.Thr8487Met)
c.25430C>T (p.Thr8477Met)
c.25466C>T (p.Thr8489Met)
c.25412C>T (p.Thr8471Met)
c.25409C>T (p.Thr8470Met)
c.25397C>T (p.Thr8466Met)
c.25340C>T (p.Thr8447Met)
c.25328C>T (p.Thr8443Met)
c.25325C>T (p.Thr8442Met)
c.25322C>T (p.Thr8441Met)
c.25478C>T (p.Thr8493Met)
c.25316C>T (p.Thr8439Met)
c.23756C>T (p.Thr7919Met)
c.23249C>T (p.Thr7750Met)
c.18716C>T (p.Thr6239Met)
c.1982C>T (p.Thr661Met)
c.25454C>T (p.Thr8485Met)
c.25403C>T (p.Thr8468Met)
c.25256C>T (p.Thr8419Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140032G>CCA366080239SYNE1c.1910C>G (p.Thr637Arg)
c.25376C>G (p.Thr8459Arg)
c.25232C>G (p.Thr8411Arg)
c.778C>G
c.1111C>G
c.1020C>G
c.1148C>G (p.Thr383Arg)
c.24161C>G (p.Thr8054Arg)
n.2124C>G
c.4211C>G (p.Thr1404Arg)
n.9068C>G
c.3314C>G (p.Thr1105Arg)
n.8960C>G
n.1990C>G
n.4398C>G
n.2213C>G
c.1841C>G (p.Thr614Arg)
c.25481C>G (p.Thr8494Arg)
c.25469C>G (p.Thr8490Arg)
c.25460C>G (p.Thr8487Arg)
c.25430C>G (p.Thr8477Arg)
c.25466C>G (p.Thr8489Arg)
c.25412C>G (p.Thr8471Arg)
c.25409C>G (p.Thr8470Arg)
c.25397C>G (p.Thr8466Arg)
c.25340C>G (p.Thr8447Arg)
c.25328C>G (p.Thr8443Arg)
c.25325C>G (p.Thr8442Arg)
c.25322C>G (p.Thr8441Arg)
c.25478C>G (p.Thr8493Arg)
c.25316C>G (p.Thr8439Arg)
c.23756C>G (p.Thr7919Arg)
c.23249C>G (p.Thr7750Arg)
c.18716C>G (p.Thr6239Arg)
c.1982C>G (p.Thr661Arg)
c.25454C>G (p.Thr8485Arg)
c.25403C>G (p.Thr8468Arg)
c.25256C>G (p.Thr8419Arg)
 gnomAD v4
6g.152140032G=CA1673206271SYNE1c.1910C= (p.Thr637=)
c.25376C= (p.Thr8459=)
c.25232C= (p.Thr8411=)
c.778C=
c.1111C=
c.1020C=
c.1148C= (p.Thr383=)
c.24161C= (p.Thr8054=)
n.2124C=
c.4211C= (p.Thr1404=)
n.9068C=
c.3314C= (p.Thr1105=)
n.8960C=
n.1990C=
n.4398C=
n.2213C=
c.1841C= (p.Thr614=)
c.25481C= (p.Thr8494=)
c.25469C= (p.Thr8490=)
c.25460C= (p.Thr8487=)
c.25430C= (p.Thr8477=)
c.25466C= (p.Thr8489=)
c.25412C= (p.Thr8471=)
c.25409C= (p.Thr8470=)
c.25397C= (p.Thr8466=)
c.25340C= (p.Thr8447=)
c.25328C= (p.Thr8443=)
c.25325C= (p.Thr8442=)
c.25322C= (p.Thr8441=)
c.25478C= (p.Thr8493=)
c.25316C= (p.Thr8439=)
c.23756C= (p.Thr7919=)
c.23249C= (p.Thr7750=)
c.18716C= (p.Thr6239=)
c.1982C= (p.Thr661=)
c.25454C= (p.Thr8485=)
c.25403C= (p.Thr8468=)
c.25256C= (p.Thr8419=)
6g.152140032G>TCA4052856SYNE1c.1910C>A (p.Thr637Lys)
c.25376C>A (p.Thr8459Lys)
c.25232C>A (p.Thr8411Lys)
c.778C>A
c.1111C>A
c.1020C>A
c.1148C>A (p.Thr383Lys)
c.24161C>A (p.Thr8054Lys)
n.2124C>A
c.4211C>A (p.Thr1404Lys)
n.9068C>A
c.3314C>A (p.Thr1105Lys)
n.8960C>A
n.1990C>A
n.4398C>A
n.2213C>A
c.1841C>A (p.Thr614Lys)
c.25481C>A (p.Thr8494Lys)
c.25469C>A (p.Thr8490Lys)
c.25460C>A (p.Thr8487Lys)
c.25430C>A (p.Thr8477Lys)
c.25466C>A (p.Thr8489Lys)
c.25412C>A (p.Thr8471Lys)
c.25409C>A (p.Thr8470Lys)
c.25397C>A (p.Thr8466Lys)
c.25340C>A (p.Thr8447Lys)
c.25328C>A (p.Thr8443Lys)
c.25325C>A (p.Thr8442Lys)
c.25322C>A (p.Thr8441Lys)
c.25478C>A (p.Thr8493Lys)
c.25316C>A (p.Thr8439Lys)
c.23756C>A (p.Thr7919Lys)
c.23249C>A (p.Thr7750Lys)
c.18716C>A (p.Thr6239Lys)
c.1982C>A (p.Thr661Lys)
c.25454C>A (p.Thr8485Lys)
c.25403C>A (p.Thr8468Lys)
c.25256C>A (p.Thr8419Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140033T>ACA366080242SYNE1c.1909A>T (p.Thr637Ser)
c.25375A>T (p.Thr8459Ser)
c.25231A>T (p.Thr8411Ser)
c.777A>T
c.1110A>T
c.1019A>T
c.1147A>T (p.Thr383Ser)
c.24160A>T (p.Thr8054Ser)
n.2123A>T
c.4210A>T (p.Thr1404Ser)
n.9067A>T
c.3313A>T (p.Thr1105Ser)
n.8959A>T
n.1989A>T
n.4397A>T
n.2212A>T
c.1840A>T (p.Thr614Ser)
c.25480A>T (p.Thr8494Ser)
c.25468A>T (p.Thr8490Ser)
c.25459A>T (p.Thr8487Ser)
c.25429A>T (p.Thr8477Ser)
c.25465A>T (p.Thr8489Ser)
c.25411A>T (p.Thr8471Ser)
c.25408A>T (p.Thr8470Ser)
c.25396A>T (p.Thr8466Ser)
c.25339A>T (p.Thr8447Ser)
c.25327A>T (p.Thr8443Ser)
c.25324A>T (p.Thr8442Ser)
c.25321A>T (p.Thr8441Ser)
c.25477A>T (p.Thr8493Ser)
c.25315A>T (p.Thr8439Ser)
c.23755A>T (p.Thr7919Ser)
c.23248A>T (p.Thr7750Ser)
c.18715A>T (p.Thr6239Ser)
c.1981A>T (p.Thr661Ser)
c.25453A>T (p.Thr8485Ser)
c.25402A>T (p.Thr8468Ser)
c.25255A>T (p.Thr8419Ser)
6g.152140033T>CCA366080244SYNE1c.1909A>G (p.Thr637Ala)
c.25375A>G (p.Thr8459Ala)
c.25231A>G (p.Thr8411Ala)
c.777A>G
c.1110A>G
c.1019A>G
c.1147A>G (p.Thr383Ala)
c.24160A>G (p.Thr8054Ala)
n.2123A>G
c.4210A>G (p.Thr1404Ala)
n.9067A>G
c.3313A>G (p.Thr1105Ala)
n.8959A>G
n.1989A>G
n.4397A>G
n.2212A>G
c.1840A>G (p.Thr614Ala)
c.25480A>G (p.Thr8494Ala)
c.25468A>G (p.Thr8490Ala)
c.25459A>G (p.Thr8487Ala)
c.25429A>G (p.Thr8477Ala)
c.25465A>G (p.Thr8489Ala)
c.25411A>G (p.Thr8471Ala)
c.25408A>G (p.Thr8470Ala)
c.25396A>G (p.Thr8466Ala)
c.25339A>G (p.Thr8447Ala)
c.25327A>G (p.Thr8443Ala)
c.25324A>G (p.Thr8442Ala)
c.25321A>G (p.Thr8441Ala)
c.25477A>G (p.Thr8493Ala)
c.25315A>G (p.Thr8439Ala)
c.23755A>G (p.Thr7919Ala)
c.23248A>G (p.Thr7750Ala)
c.18715A>G (p.Thr6239Ala)
c.1981A>G (p.Thr661Ala)
c.25453A>G (p.Thr8485Ala)
c.25402A>G (p.Thr8468Ala)
c.25255A>G (p.Thr8419Ala)
6g.152140033T>GCA4052858SYNE1c.1909A>C (p.Thr637Pro)
c.25375A>C (p.Thr8459Pro)
c.25231A>C (p.Thr8411Pro)
c.777A>C
c.1110A>C
c.1019A>C
c.1147A>C (p.Thr383Pro)
c.24160A>C (p.Thr8054Pro)
n.2123A>C
c.4210A>C (p.Thr1404Pro)
n.9067A>C
c.3313A>C (p.Thr1105Pro)
n.8959A>C
n.1989A>C
n.4397A>C
n.2212A>C
c.1840A>C (p.Thr614Pro)
c.25480A>C (p.Thr8494Pro)
c.25468A>C (p.Thr8490Pro)
c.25459A>C (p.Thr8487Pro)
c.25429A>C (p.Thr8477Pro)
c.25465A>C (p.Thr8489Pro)
c.25411A>C (p.Thr8471Pro)
c.25408A>C (p.Thr8470Pro)
c.25396A>C (p.Thr8466Pro)
c.25339A>C (p.Thr8447Pro)
c.25327A>C (p.Thr8443Pro)
c.25324A>C (p.Thr8442Pro)
c.25321A>C (p.Thr8441Pro)
c.25477A>C (p.Thr8493Pro)
c.25315A>C (p.Thr8439Pro)
c.23755A>C (p.Thr7919Pro)
c.23248A>C (p.Thr7750Pro)
c.18715A>C (p.Thr6239Pro)
c.1981A>C (p.Thr661Pro)
c.25453A>C (p.Thr8485Pro)
c.25402A>C (p.Thr8468Pro)
c.25255A>C (p.Thr8419Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140033T=CA1673206275SYNE1c.1909A= (p.Thr637=)
c.25375A= (p.Thr8459=)
c.25231A= (p.Thr8411=)
c.777A=
c.1110A=
c.1019A=
c.1147A= (p.Thr383=)
c.24160A= (p.Thr8054=)
n.2123A=
c.4210A= (p.Thr1404=)
n.9067A=
c.3313A= (p.Thr1105=)
n.8959A=
n.1989A=
n.4397A=
n.2212A=
c.1840A= (p.Thr614=)
c.25480A= (p.Thr8494=)
c.25468A= (p.Thr8490=)
c.25459A= (p.Thr8487=)
c.25429A= (p.Thr8477=)
c.25465A= (p.Thr8489=)
c.25411A= (p.Thr8471=)
c.25408A= (p.Thr8470=)
c.25396A= (p.Thr8466=)
c.25339A= (p.Thr8447=)
c.25327A= (p.Thr8443=)
c.25324A= (p.Thr8442=)
c.25321A= (p.Thr8441=)
c.25477A= (p.Thr8493=)
c.25315A= (p.Thr8439=)
c.23755A= (p.Thr7919=)
c.23248A= (p.Thr7750=)
c.18715A= (p.Thr6239=)
c.1981A= (p.Thr661=)
c.25453A= (p.Thr8485=)
c.25402A= (p.Thr8468=)
c.25255A= (p.Thr8419=)

Number of alleles fetched