Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152139905G>A | CA150165362 | SYNE1 | c.1992+45C>T (n.1992+45C>T) c.25458+45C>T (n.25458+45C>T) c.25314+45C>T (n.25314+45C>T) c.860+45C>T c.1193+45C>T c.1102+45C>T c.1230+45C>T (n.1230+45C>T) c.24243+45C>T (n.24243+45C>T) n.2206+45C>T c.4293+45C>T (n.4293+45C>T) n.9150+45C>T c.3396+45C>T (n.3396+45C>T) n.9042+45C>T n.2072+45C>T n.4480+45C>T n.2295+45C>T c.1923+45C>T (n.1923+45C>T) c.25563+45C>T (n.25563+45C>T) c.25551+45C>T (n.25551+45C>T) c.25542+45C>T (n.25542+45C>T) c.25512+45C>T (n.25512+45C>T) c.25548+45C>T (n.25548+45C>T) c.25494+45C>T (n.25494+45C>T) c.25491+45C>T (n.25491+45C>T) c.25479+45C>T (n.25479+45C>T) c.25422+45C>T (n.25422+45C>T) c.25410+45C>T (n.25410+45C>T) c.25407+45C>T (n.25407+45C>T) c.25404+45C>T (n.25404+45C>T) c.25560+45C>T (n.25560+45C>T) c.25398+45C>T (n.25398+45C>T) c.23838+45C>T (n.23838+45C>T) c.23331+45C>T (n.23331+45C>T) c.18798+45C>T (n.18798+45C>T) c.2064+45C>T (n.2064+45C>T) c.25536+45C>T (n.25536+45C>T) c.25485+45C>T (n.25485+45C>T) c.25338+45C>T (n.25338+45C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152139905G>C | CA2680812914 | SYNE1 | c.1992+45C>G (n.1992+45C>G) c.25458+45C>G (n.25458+45C>G) c.25314+45C>G (n.25314+45C>G) c.860+45C>G c.1193+45C>G c.1102+45C>G c.1230+45C>G (n.1230+45C>G) c.24243+45C>G (n.24243+45C>G) n.2206+45C>G c.4293+45C>G (n.4293+45C>G) n.9150+45C>G c.3396+45C>G (n.3396+45C>G) n.9042+45C>G n.2072+45C>G n.4480+45C>G n.2295+45C>G c.1923+45C>G (n.1923+45C>G) c.25563+45C>G (n.25563+45C>G) c.25551+45C>G (n.25551+45C>G) c.25542+45C>G (n.25542+45C>G) c.25512+45C>G (n.25512+45C>G) c.25548+45C>G (n.25548+45C>G) c.25494+45C>G (n.25494+45C>G) c.25491+45C>G (n.25491+45C>G) c.25479+45C>G (n.25479+45C>G) c.25422+45C>G (n.25422+45C>G) c.25410+45C>G (n.25410+45C>G) c.25407+45C>G (n.25407+45C>G) c.25404+45C>G (n.25404+45C>G) c.25560+45C>G (n.25560+45C>G) c.25398+45C>G (n.25398+45C>G) c.23838+45C>G (n.23838+45C>G) c.23331+45C>G (n.23331+45C>G) c.18798+45C>G (n.18798+45C>G) c.2064+45C>G (n.2064+45C>G) c.25536+45C>G (n.25536+45C>G) c.25485+45C>G (n.25485+45C>G) c.25338+45C>G (n.25338+45C>G) | gnomAD v4 |
6 | g.152139905G= | CA1673206036 | SYNE1 | c.1992+45C= (n.1992+45C=) c.25458+45C= (n.25458+45C=) c.25314+45C= (n.25314+45C=) c.860+45C= c.1193+45C= c.1102+45C= c.1230+45C= (n.1230+45C=) c.24243+45C= (n.24243+45C=) n.2206+45C= c.4293+45C= (n.4293+45C=) n.9150+45C= c.3396+45C= (n.3396+45C=) n.9042+45C= n.2072+45C= n.4480+45C= n.2295+45C= c.1923+45C= (n.1923+45C=) c.25563+45C= (n.25563+45C=) c.25551+45C= (n.25551+45C=) c.25542+45C= (n.25542+45C=) c.25512+45C= (n.25512+45C=) c.25548+45C= (n.25548+45C=) c.25494+45C= (n.25494+45C=) c.25491+45C= (n.25491+45C=) c.25479+45C= (n.25479+45C=) c.25422+45C= (n.25422+45C=) c.25410+45C= (n.25410+45C=) c.25407+45C= (n.25407+45C=) c.25404+45C= (n.25404+45C=) c.25560+45C= (n.25560+45C=) c.25398+45C= (n.25398+45C=) c.23838+45C= (n.23838+45C=) c.23331+45C= (n.23331+45C=) c.18798+45C= (n.18798+45C=) c.2064+45C= (n.2064+45C=) c.25536+45C= (n.25536+45C=) c.25485+45C= (n.25485+45C=) c.25338+45C= (n.25338+45C=) | |
6 | g.152139907G>A | CA4052832 | SYNE1 | c.1992+43C>T (n.1992+43C>T) c.25458+43C>T (n.25458+43C>T) c.25314+43C>T (n.25314+43C>T) c.860+43C>T c.1193+43C>T c.1102+43C>T c.1230+43C>T (n.1230+43C>T) c.24243+43C>T (n.24243+43C>T) n.2206+43C>T c.4293+43C>T (n.4293+43C>T) n.9150+43C>T c.3396+43C>T (n.3396+43C>T) n.9042+43C>T n.2072+43C>T n.4480+43C>T n.2295+43C>T c.1923+43C>T (n.1923+43C>T) c.25563+43C>T (n.25563+43C>T) c.25551+43C>T (n.25551+43C>T) c.25542+43C>T (n.25542+43C>T) c.25512+43C>T (n.25512+43C>T) c.25548+43C>T (n.25548+43C>T) c.25494+43C>T (n.25494+43C>T) c.25491+43C>T (n.25491+43C>T) c.25479+43C>T (n.25479+43C>T) c.25422+43C>T (n.25422+43C>T) c.25410+43C>T (n.25410+43C>T) c.25407+43C>T (n.25407+43C>T) c.25404+43C>T (n.25404+43C>T) c.25560+43C>T (n.25560+43C>T) c.25398+43C>T (n.25398+43C>T) c.23838+43C>T (n.23838+43C>T) c.23331+43C>T (n.23331+43C>T) c.18798+43C>T (n.18798+43C>T) c.2064+43C>T (n.2064+43C>T) c.25536+43C>T (n.25536+43C>T) c.25485+43C>T (n.25485+43C>T) c.25338+43C>T (n.25338+43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152139907G= | CA1673206038 | SYNE1 | c.1992+43C= (n.1992+43C=) c.25458+43C= (n.25458+43C=) c.25314+43C= (n.25314+43C=) c.860+43C= c.1193+43C= c.1102+43C= c.1230+43C= (n.1230+43C=) c.24243+43C= (n.24243+43C=) n.2206+43C= c.4293+43C= (n.4293+43C=) n.9150+43C= c.3396+43C= (n.3396+43C=) n.9042+43C= n.2072+43C= n.4480+43C= n.2295+43C= c.1923+43C= (n.1923+43C=) c.25563+43C= (n.25563+43C=) c.25551+43C= (n.25551+43C=) c.25542+43C= (n.25542+43C=) c.25512+43C= (n.25512+43C=) c.25548+43C= (n.25548+43C=) c.25494+43C= (n.25494+43C=) c.25491+43C= (n.25491+43C=) c.25479+43C= (n.25479+43C=) c.25422+43C= (n.25422+43C=) c.25410+43C= (n.25410+43C=) c.25407+43C= (n.25407+43C=) c.25404+43C= (n.25404+43C=) c.25560+43C= (n.25560+43C=) c.25398+43C= (n.25398+43C=) c.23838+43C= (n.23838+43C=) c.23331+43C= (n.23331+43C=) c.18798+43C= (n.18798+43C=) c.2064+43C= (n.2064+43C=) c.25536+43C= (n.25536+43C=) c.25485+43C= (n.25485+43C=) c.25338+43C= (n.25338+43C=) | |
6 | g.152139907G>T | CA571437343 | SYNE1 | c.1992+43C>A (n.1992+43C>A) c.25458+43C>A (n.25458+43C>A) c.25314+43C>A (n.25314+43C>A) c.860+43C>A c.1193+43C>A c.1102+43C>A c.1230+43C>A (n.1230+43C>A) c.24243+43C>A (n.24243+43C>A) n.2206+43C>A c.4293+43C>A (n.4293+43C>A) n.9150+43C>A c.3396+43C>A (n.3396+43C>A) n.9042+43C>A n.2072+43C>A n.4480+43C>A n.2295+43C>A c.1923+43C>A (n.1923+43C>A) c.25563+43C>A (n.25563+43C>A) c.25551+43C>A (n.25551+43C>A) c.25542+43C>A (n.25542+43C>A) c.25512+43C>A (n.25512+43C>A) c.25548+43C>A (n.25548+43C>A) c.25494+43C>A (n.25494+43C>A) c.25491+43C>A (n.25491+43C>A) c.25479+43C>A (n.25479+43C>A) c.25422+43C>A (n.25422+43C>A) c.25410+43C>A (n.25410+43C>A) c.25407+43C>A (n.25407+43C>A) c.25404+43C>A (n.25404+43C>A) c.25560+43C>A (n.25560+43C>A) c.25398+43C>A (n.25398+43C>A) c.23838+43C>A (n.23838+43C>A) c.23331+43C>A (n.23331+43C>A) c.18798+43C>A (n.18798+43C>A) c.2064+43C>A (n.2064+43C>A) c.25536+43C>A (n.25536+43C>A) c.25485+43C>A (n.25485+43C>A) c.25338+43C>A (n.25338+43C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152139908G>A | CA2680812915 | SYNE1 | c.1992+42C>T (n.1992+42C>T) c.25458+42C>T (n.25458+42C>T) c.25314+42C>T (n.25314+42C>T) c.860+42C>T c.1193+42C>T c.1102+42C>T c.1230+42C>T (n.1230+42C>T) c.24243+42C>T (n.24243+42C>T) n.2206+42C>T c.4293+42C>T (n.4293+42C>T) n.9150+42C>T c.3396+42C>T (n.3396+42C>T) n.9042+42C>T n.2072+42C>T n.4480+42C>T n.2295+42C>T c.1923+42C>T (n.1923+42C>T) c.25563+42C>T (n.25563+42C>T) c.25551+42C>T (n.25551+42C>T) c.25542+42C>T (n.25542+42C>T) c.25512+42C>T (n.25512+42C>T) c.25548+42C>T (n.25548+42C>T) c.25494+42C>T (n.25494+42C>T) c.25491+42C>T (n.25491+42C>T) c.25479+42C>T (n.25479+42C>T) c.25422+42C>T (n.25422+42C>T) c.25410+42C>T (n.25410+42C>T) c.25407+42C>T (n.25407+42C>T) c.25404+42C>T (n.25404+42C>T) c.25560+42C>T (n.25560+42C>T) c.25398+42C>T (n.25398+42C>T) c.23838+42C>T (n.23838+42C>T) c.23331+42C>T (n.23331+42C>T) c.18798+42C>T (n.18798+42C>T) c.2064+42C>T (n.2064+42C>T) c.25536+42C>T (n.25536+42C>T) c.25485+42C>T (n.25485+42C>T) c.25338+42C>T (n.25338+42C>T) | gnomAD v4 |
6 | g.152139908G>T | CA2680812916 | SYNE1 | c.1992+42C>A (n.1992+42C>A) c.25458+42C>A (n.25458+42C>A) c.25314+42C>A (n.25314+42C>A) c.860+42C>A c.1193+42C>A c.1102+42C>A c.1230+42C>A (n.1230+42C>A) c.24243+42C>A (n.24243+42C>A) n.2206+42C>A c.4293+42C>A (n.4293+42C>A) n.9150+42C>A c.3396+42C>A (n.3396+42C>A) n.9042+42C>A n.2072+42C>A n.4480+42C>A n.2295+42C>A c.1923+42C>A (n.1923+42C>A) c.25563+42C>A (n.25563+42C>A) c.25551+42C>A (n.25551+42C>A) c.25542+42C>A (n.25542+42C>A) c.25512+42C>A (n.25512+42C>A) c.25548+42C>A (n.25548+42C>A) c.25494+42C>A (n.25494+42C>A) c.25491+42C>A (n.25491+42C>A) c.25479+42C>A (n.25479+42C>A) c.25422+42C>A (n.25422+42C>A) c.25410+42C>A (n.25410+42C>A) c.25407+42C>A (n.25407+42C>A) c.25404+42C>A (n.25404+42C>A) c.25560+42C>A (n.25560+42C>A) c.25398+42C>A (n.25398+42C>A) c.23838+42C>A (n.23838+42C>A) c.23331+42C>A (n.23331+42C>A) c.18798+42C>A (n.18798+42C>A) c.2064+42C>A (n.2064+42C>A) c.25536+42C>A (n.25536+42C>A) c.25485+42C>A (n.25485+42C>A) c.25338+42C>A (n.25338+42C>A) | gnomAD v4 |
6 | g.152139908_152139910delinsGCT | CA1673206040 | SYNE1 | c.1992+40_1992+42delinsAGC (n.1992+40_1992+42delinsAGC) c.25458+40_25458+42delinsAGC (n.25458+40_25458+42delinsAGC) c.25314+40_25314+42delinsAGC (n.25314+40_25314+42delinsAGC) c.860+40_860+42delinsAGC c.1193+40_1193+42delinsAGC c.1102+40_1102+42delinsAGC c.1230+40_1230+42delinsAGC (n.1230+40_1230+42delinsAGC) c.24243+40_24243+42delinsAGC (n.24243+40_24243+42delinsAGC) n.2206+40_2206+42delinsAGC c.4293+40_4293+42delinsAGC (n.4293+40_4293+42delinsAGC) n.9150+40_9150+42delinsAGC c.3396+40_3396+42delinsAGC (n.3396+40_3396+42delinsAGC) n.9042+40_9042+42delinsAGC n.2072+40_2072+42delinsAGC n.4480+40_4480+42delinsAGC n.2295+40_2295+42delinsAGC c.1923+40_1923+42delinsAGC (n.1923+40_1923+42delinsAGC) c.25563+40_25563+42delinsAGC (n.25563+40_25563+42delinsAGC) c.25551+40_25551+42delinsAGC (n.25551+40_25551+42delinsAGC) c.25542+40_25542+42delinsAGC (n.25542+40_25542+42delinsAGC) c.25512+40_25512+42delinsAGC (n.25512+40_25512+42delinsAGC) c.25548+40_25548+42delinsAGC (n.25548+40_25548+42delinsAGC) c.25494+40_25494+42delinsAGC (n.25494+40_25494+42delinsAGC) c.25491+40_25491+42delinsAGC (n.25491+40_25491+42delinsAGC) c.25479+40_25479+42delinsAGC (n.25479+40_25479+42delinsAGC) c.25422+40_25422+42delinsAGC (n.25422+40_25422+42delinsAGC) c.25410+40_25410+42delinsAGC (n.25410+40_25410+42delinsAGC) c.25407+40_25407+42delinsAGC (n.25407+40_25407+42delinsAGC) c.25404+40_25404+42delinsAGC (n.25404+40_25404+42delinsAGC) c.25560+40_25560+42delinsAGC (n.25560+40_25560+42delinsAGC) c.25398+40_25398+42delinsAGC (n.25398+40_25398+42delinsAGC) c.23838+40_23838+42delinsAGC (n.23838+40_23838+42delinsAGC) c.23331+40_23331+42delinsAGC (n.23331+40_23331+42delinsAGC) c.18798+40_18798+42delinsAGC (n.18798+40_18798+42delinsAGC) c.2064+40_2064+42delinsAGC (n.2064+40_2064+42delinsAGC) c.25536+40_25536+42delinsAGC (n.25536+40_25536+42delinsAGC) c.25485+40_25485+42delinsAGC (n.25485+40_25485+42delinsAGC) c.25338+40_25338+42delinsAGC (n.25338+40_25338+42delinsAGC) | |
6 | g.152139909C>A | CA2680812918 | SYNE1 | c.1992+41G>T (n.1992+41G>T) c.25458+41G>T (n.25458+41G>T) c.25314+41G>T (n.25314+41G>T) c.860+41G>T c.1193+41G>T c.1102+41G>T c.1230+41G>T (n.1230+41G>T) c.24243+41G>T (n.24243+41G>T) n.2206+41G>T c.4293+41G>T (n.4293+41G>T) n.9150+41G>T c.3396+41G>T (n.3396+41G>T) n.9042+41G>T n.2072+41G>T n.4480+41G>T n.2295+41G>T c.1923+41G>T (n.1923+41G>T) c.25563+41G>T (n.25563+41G>T) c.25551+41G>T (n.25551+41G>T) c.25542+41G>T (n.25542+41G>T) c.25512+41G>T (n.25512+41G>T) c.25548+41G>T (n.25548+41G>T) c.25494+41G>T (n.25494+41G>T) c.25491+41G>T (n.25491+41G>T) c.25479+41G>T (n.25479+41G>T) c.25422+41G>T (n.25422+41G>T) c.25410+41G>T (n.25410+41G>T) c.25407+41G>T (n.25407+41G>T) c.25404+41G>T (n.25404+41G>T) c.25560+41G>T (n.25560+41G>T) c.25398+41G>T (n.25398+41G>T) c.23838+41G>T (n.23838+41G>T) c.23331+41G>T (n.23331+41G>T) c.18798+41G>T (n.18798+41G>T) c.2064+41G>T (n.2064+41G>T) c.25536+41G>T (n.25536+41G>T) c.25485+41G>T (n.25485+41G>T) c.25338+41G>T (n.25338+41G>T) | gnomAD v4 |
6 | g.152139909C= | CA1673206044 | SYNE1 | c.1992+41G= (n.1992+41G=) c.25458+41G= (n.25458+41G=) c.25314+41G= (n.25314+41G=) c.860+41G= c.1193+41G= c.1102+41G= c.1230+41G= (n.1230+41G=) c.24243+41G= (n.24243+41G=) n.2206+41G= c.4293+41G= (n.4293+41G=) n.9150+41G= c.3396+41G= (n.3396+41G=) n.9042+41G= n.2072+41G= n.4480+41G= n.2295+41G= c.1923+41G= (n.1923+41G=) c.25563+41G= (n.25563+41G=) c.25551+41G= (n.25551+41G=) c.25542+41G= (n.25542+41G=) c.25512+41G= (n.25512+41G=) c.25548+41G= (n.25548+41G=) c.25494+41G= (n.25494+41G=) c.25491+41G= (n.25491+41G=) c.25479+41G= (n.25479+41G=) c.25422+41G= (n.25422+41G=) c.25410+41G= (n.25410+41G=) c.25407+41G= (n.25407+41G=) c.25404+41G= (n.25404+41G=) c.25560+41G= (n.25560+41G=) c.25398+41G= (n.25398+41G=) c.23838+41G= (n.23838+41G=) c.23331+41G= (n.23331+41G=) c.18798+41G= (n.18798+41G=) c.2064+41G= (n.2064+41G=) c.25536+41G= (n.25536+41G=) c.25485+41G= (n.25485+41G=) c.25338+41G= (n.25338+41G=) | |
6 | g.152139909C>T | CA150165387 | SYNE1 | c.1992+41G>A (n.1992+41G>A) c.25458+41G>A (n.25458+41G>A) c.25314+41G>A (n.25314+41G>A) c.860+41G>A c.1193+41G>A c.1102+41G>A c.1230+41G>A (n.1230+41G>A) c.24243+41G>A (n.24243+41G>A) n.2206+41G>A c.4293+41G>A (n.4293+41G>A) n.9150+41G>A c.3396+41G>A (n.3396+41G>A) n.9042+41G>A n.2072+41G>A n.4480+41G>A n.2295+41G>A c.1923+41G>A (n.1923+41G>A) c.25563+41G>A (n.25563+41G>A) c.25551+41G>A (n.25551+41G>A) c.25542+41G>A (n.25542+41G>A) c.25512+41G>A (n.25512+41G>A) c.25548+41G>A (n.25548+41G>A) c.25494+41G>A (n.25494+41G>A) c.25491+41G>A (n.25491+41G>A) c.25479+41G>A (n.25479+41G>A) c.25422+41G>A (n.25422+41G>A) c.25410+41G>A (n.25410+41G>A) c.25407+41G>A (n.25407+41G>A) c.25404+41G>A (n.25404+41G>A) c.25560+41G>A (n.25560+41G>A) c.25398+41G>A (n.25398+41G>A) c.23838+41G>A (n.23838+41G>A) c.23331+41G>A (n.23331+41G>A) c.18798+41G>A (n.18798+41G>A) c.2064+41G>A (n.2064+41G>A) c.25536+41G>A (n.25536+41G>A) c.25485+41G>A (n.25485+41G>A) c.25338+41G>A (n.25338+41G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152139913_152139914del | CA4052833 | SYNE1 | c.1992+40_1992+41del (n.1992+40_1992+41del) c.25458+40_25458+41del (n.25458+40_25458+41del) c.25314+40_25314+41del (n.25314+40_25314+41del) c.860+40_860+41del c.1193+40_1193+41del c.1102+40_1102+41del c.1230+40_1230+41del (n.1230+40_1230+41del) c.24243+40_24243+41del (n.24243+40_24243+41del) n.2206+40_2206+41del c.4293+40_4293+41del (n.4293+40_4293+41del) n.9150+40_9150+41del c.3396+40_3396+41del (n.3396+40_3396+41del) n.9042+40_9042+41del n.2072+40_2072+41del n.4480+40_4480+41del n.2295+40_2295+41del c.1923+40_1923+41del (n.1923+40_1923+41del) c.25563+40_25563+41del (n.25563+40_25563+41del) c.25551+40_25551+41del (n.25551+40_25551+41del) c.25542+40_25542+41del (n.25542+40_25542+41del) c.25512+40_25512+41del (n.25512+40_25512+41del) c.25548+40_25548+41del (n.25548+40_25548+41del) c.25494+40_25494+41del (n.25494+40_25494+41del) c.25491+40_25491+41del (n.25491+40_25491+41del) c.25479+40_25479+41del (n.25479+40_25479+41del) c.25422+40_25422+41del (n.25422+40_25422+41del) c.25410+40_25410+41del (n.25410+40_25410+41del) c.25407+40_25407+41del (n.25407+40_25407+41del) c.25404+40_25404+41del (n.25404+40_25404+41del) c.25560+40_25560+41del (n.25560+40_25560+41del) c.25398+40_25398+41del (n.25398+40_25398+41del) c.23838+40_23838+41del (n.23838+40_23838+41del) c.23331+40_23331+41del (n.23331+40_23331+41del) c.18798+40_18798+41del (n.18798+40_18798+41del) c.2064+40_2064+41del (n.2064+40_2064+41del) c.25536+40_25536+41del (n.25536+40_25536+41del) c.25485+40_25485+41del (n.25485+40_25485+41del) c.25338+40_25338+41del (n.25338+40_25338+41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139911_152139914del | CA2680812917 | SYNE1 | c.1992+38_1992+41del (n.1992+38_1992+41del) c.25458+38_25458+41del (n.25458+38_25458+41del) c.25314+38_25314+41del (n.25314+38_25314+41del) c.860+38_860+41del c.1193+38_1193+41del c.1102+38_1102+41del c.1230+38_1230+41del (n.1230+38_1230+41del) c.24243+38_24243+41del (n.24243+38_24243+41del) n.2206+38_2206+41del c.4293+38_4293+41del (n.4293+38_4293+41del) n.9150+38_9150+41del c.3396+38_3396+41del (n.3396+38_3396+41del) n.9042+38_9042+41del n.2072+38_2072+41del n.4480+38_4480+41del n.2295+38_2295+41del c.1923+38_1923+41del (n.1923+38_1923+41del) c.25563+38_25563+41del (n.25563+38_25563+41del) c.25551+38_25551+41del (n.25551+38_25551+41del) c.25542+38_25542+41del (n.25542+38_25542+41del) c.25512+38_25512+41del (n.25512+38_25512+41del) c.25548+38_25548+41del (n.25548+38_25548+41del) c.25494+38_25494+41del (n.25494+38_25494+41del) c.25491+38_25491+41del (n.25491+38_25491+41del) c.25479+38_25479+41del (n.25479+38_25479+41del) c.25422+38_25422+41del (n.25422+38_25422+41del) c.25410+38_25410+41del (n.25410+38_25410+41del) c.25407+38_25407+41del (n.25407+38_25407+41del) c.25404+38_25404+41del (n.25404+38_25404+41del) c.25560+38_25560+41del (n.25560+38_25560+41del) c.25398+38_25398+41del (n.25398+38_25398+41del) c.23838+38_23838+41del (n.23838+38_23838+41del) c.23331+38_23331+41del (n.23331+38_23331+41del) c.18798+38_18798+41del (n.18798+38_18798+41del) c.2064+38_2064+41del (n.2064+38_2064+41del) c.25536+38_25536+41del (n.25536+38_25536+41del) c.25485+38_25485+41del (n.25485+38_25485+41del) c.25338+38_25338+41del (n.25338+38_25338+41del) | gnomAD v4 |
6 | g.152139911C= | CA1673206046 | SYNE1 | c.1992+39G= (n.1992+39G=) c.25458+39G= (n.25458+39G=) c.25314+39G= (n.25314+39G=) c.860+39G= c.1193+39G= c.1102+39G= c.1230+39G= (n.1230+39G=) c.24243+39G= (n.24243+39G=) n.2206+39G= c.4293+39G= (n.4293+39G=) n.9150+39G= c.3396+39G= (n.3396+39G=) n.9042+39G= n.2072+39G= n.4480+39G= n.2295+39G= c.1923+39G= (n.1923+39G=) c.25563+39G= (n.25563+39G=) c.25551+39G= (n.25551+39G=) c.25542+39G= (n.25542+39G=) c.25512+39G= (n.25512+39G=) c.25548+39G= (n.25548+39G=) c.25494+39G= (n.25494+39G=) c.25491+39G= (n.25491+39G=) c.25479+39G= (n.25479+39G=) c.25422+39G= (n.25422+39G=) c.25410+39G= (n.25410+39G=) c.25407+39G= (n.25407+39G=) c.25404+39G= (n.25404+39G=) c.25560+39G= (n.25560+39G=) c.25398+39G= (n.25398+39G=) c.23838+39G= (n.23838+39G=) c.23331+39G= (n.23331+39G=) c.18798+39G= (n.18798+39G=) c.2064+39G= (n.2064+39G=) c.25536+39G= (n.25536+39G=) c.25485+39G= (n.25485+39G=) c.25338+39G= (n.25338+39G=) | |
6 | g.152139911C>G | CA2680812919 | SYNE1 | c.1992+39G>C (n.1992+39G>C) c.25458+39G>C (n.25458+39G>C) c.25314+39G>C (n.25314+39G>C) c.860+39G>C c.1193+39G>C c.1102+39G>C c.1230+39G>C (n.1230+39G>C) c.24243+39G>C (n.24243+39G>C) n.2206+39G>C c.4293+39G>C (n.4293+39G>C) n.9150+39G>C c.3396+39G>C (n.3396+39G>C) n.9042+39G>C n.2072+39G>C n.4480+39G>C n.2295+39G>C c.1923+39G>C (n.1923+39G>C) c.25563+39G>C (n.25563+39G>C) c.25551+39G>C (n.25551+39G>C) c.25542+39G>C (n.25542+39G>C) c.25512+39G>C (n.25512+39G>C) c.25548+39G>C (n.25548+39G>C) c.25494+39G>C (n.25494+39G>C) c.25491+39G>C (n.25491+39G>C) c.25479+39G>C (n.25479+39G>C) c.25422+39G>C (n.25422+39G>C) c.25410+39G>C (n.25410+39G>C) c.25407+39G>C (n.25407+39G>C) c.25404+39G>C (n.25404+39G>C) c.25560+39G>C (n.25560+39G>C) c.25398+39G>C (n.25398+39G>C) c.23838+39G>C (n.23838+39G>C) c.23331+39G>C (n.23331+39G>C) c.18798+39G>C (n.18798+39G>C) c.2064+39G>C (n.2064+39G>C) c.25536+39G>C (n.25536+39G>C) c.25485+39G>C (n.25485+39G>C) c.25338+39G>C (n.25338+39G>C) | gnomAD v4 |
6 | g.152139911C>T | CA571437344 | SYNE1 | c.1992+39G>A (n.1992+39G>A) c.25458+39G>A (n.25458+39G>A) c.25314+39G>A (n.25314+39G>A) c.860+39G>A c.1193+39G>A c.1102+39G>A c.1230+39G>A (n.1230+39G>A) c.24243+39G>A (n.24243+39G>A) n.2206+39G>A c.4293+39G>A (n.4293+39G>A) n.9150+39G>A c.3396+39G>A (n.3396+39G>A) n.9042+39G>A n.2072+39G>A n.4480+39G>A n.2295+39G>A c.1923+39G>A (n.1923+39G>A) c.25563+39G>A (n.25563+39G>A) c.25551+39G>A (n.25551+39G>A) c.25542+39G>A (n.25542+39G>A) c.25512+39G>A (n.25512+39G>A) c.25548+39G>A (n.25548+39G>A) c.25494+39G>A (n.25494+39G>A) c.25491+39G>A (n.25491+39G>A) c.25479+39G>A (n.25479+39G>A) c.25422+39G>A (n.25422+39G>A) c.25410+39G>A (n.25410+39G>A) c.25407+39G>A (n.25407+39G>A) c.25404+39G>A (n.25404+39G>A) c.25560+39G>A (n.25560+39G>A) c.25398+39G>A (n.25398+39G>A) c.23838+39G>A (n.23838+39G>A) c.23331+39G>A (n.23331+39G>A) c.18798+39G>A (n.18798+39G>A) c.2064+39G>A (n.2064+39G>A) c.25536+39G>A (n.25536+39G>A) c.25485+39G>A (n.25485+39G>A) c.25338+39G>A (n.25338+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152139912T>C | CA2680812920 | SYNE1 | c.1992+38A>G (n.1992+38A>G) c.25458+38A>G (n.25458+38A>G) c.25314+38A>G (n.25314+38A>G) c.860+38A>G c.1193+38A>G c.1102+38A>G c.1230+38A>G (n.1230+38A>G) c.24243+38A>G (n.24243+38A>G) n.2206+38A>G c.4293+38A>G (n.4293+38A>G) n.9150+38A>G c.3396+38A>G (n.3396+38A>G) n.9042+38A>G n.2072+38A>G n.4480+38A>G n.2295+38A>G c.1923+38A>G (n.1923+38A>G) c.25563+38A>G (n.25563+38A>G) c.25551+38A>G (n.25551+38A>G) c.25542+38A>G (n.25542+38A>G) c.25512+38A>G (n.25512+38A>G) c.25548+38A>G (n.25548+38A>G) c.25494+38A>G (n.25494+38A>G) c.25491+38A>G (n.25491+38A>G) c.25479+38A>G (n.25479+38A>G) c.25422+38A>G (n.25422+38A>G) c.25410+38A>G (n.25410+38A>G) c.25407+38A>G (n.25407+38A>G) c.25404+38A>G (n.25404+38A>G) c.25560+38A>G (n.25560+38A>G) c.25398+38A>G (n.25398+38A>G) c.23838+38A>G (n.23838+38A>G) c.23331+38A>G (n.23331+38A>G) c.18798+38A>G (n.18798+38A>G) c.2064+38A>G (n.2064+38A>G) c.25536+38A>G (n.25536+38A>G) c.25485+38A>G (n.25485+38A>G) c.25338+38A>G (n.25338+38A>G) | gnomAD v4 |
6 | g.152139912_152139913delinsTC | CA1673206049 | SYNE1 | c.1992+37_1992+38delinsGA (n.1992+37_1992+38delinsGA) c.25458+37_25458+38delinsGA (n.25458+37_25458+38delinsGA) c.25314+37_25314+38delinsGA (n.25314+37_25314+38delinsGA) c.860+37_860+38delinsGA c.1193+37_1193+38delinsGA c.1102+37_1102+38delinsGA c.1230+37_1230+38delinsGA (n.1230+37_1230+38delinsGA) c.24243+37_24243+38delinsGA (n.24243+37_24243+38delinsGA) n.2206+37_2206+38delinsGA c.4293+37_4293+38delinsGA (n.4293+37_4293+38delinsGA) n.9150+37_9150+38delinsGA c.3396+37_3396+38delinsGA (n.3396+37_3396+38delinsGA) n.9042+37_9042+38delinsGA n.2072+37_2072+38delinsGA n.4480+37_4480+38delinsGA n.2295+37_2295+38delinsGA c.1923+37_1923+38delinsGA (n.1923+37_1923+38delinsGA) c.25563+37_25563+38delinsGA (n.25563+37_25563+38delinsGA) c.25551+37_25551+38delinsGA (n.25551+37_25551+38delinsGA) c.25542+37_25542+38delinsGA (n.25542+37_25542+38delinsGA) c.25512+37_25512+38delinsGA (n.25512+37_25512+38delinsGA) c.25548+37_25548+38delinsGA (n.25548+37_25548+38delinsGA) c.25494+37_25494+38delinsGA (n.25494+37_25494+38delinsGA) c.25491+37_25491+38delinsGA (n.25491+37_25491+38delinsGA) c.25479+37_25479+38delinsGA (n.25479+37_25479+38delinsGA) c.25422+37_25422+38delinsGA (n.25422+37_25422+38delinsGA) c.25410+37_25410+38delinsGA (n.25410+37_25410+38delinsGA) c.25407+37_25407+38delinsGA (n.25407+37_25407+38delinsGA) c.25404+37_25404+38delinsGA (n.25404+37_25404+38delinsGA) c.25560+37_25560+38delinsGA (n.25560+37_25560+38delinsGA) c.25398+37_25398+38delinsGA (n.25398+37_25398+38delinsGA) c.23838+37_23838+38delinsGA (n.23838+37_23838+38delinsGA) c.23331+37_23331+38delinsGA (n.23331+37_23331+38delinsGA) c.18798+37_18798+38delinsGA (n.18798+37_18798+38delinsGA) c.2064+37_2064+38delinsGA (n.2064+37_2064+38delinsGA) c.25536+37_25536+38delinsGA (n.25536+37_25536+38delinsGA) c.25485+37_25485+38delinsGA (n.25485+37_25485+38delinsGA) c.25338+37_25338+38delinsGA (n.25338+37_25338+38delinsGA) | |
6 | g.152139913_152139916del | CA2713478375 | SYNE1 | c.1992+35_1992+38del (n.1992+35_1992+38del) c.25458+35_25458+38del (n.25458+35_25458+38del) c.25314+35_25314+38del (n.25314+35_25314+38del) c.860+35_860+38del c.1193+35_1193+38del c.1102+35_1102+38del c.1230+35_1230+38del (n.1230+35_1230+38del) c.24243+35_24243+38del (n.24243+35_24243+38del) n.2206+35_2206+38del c.4293+35_4293+38del (n.4293+35_4293+38del) n.9150+35_9150+38del c.3396+35_3396+38del (n.3396+35_3396+38del) n.9042+35_9042+38del n.2072+35_2072+38del n.4480+35_4480+38del n.2295+35_2295+38del c.1923+35_1923+38del (n.1923+35_1923+38del) c.25563+35_25563+38del (n.25563+35_25563+38del) c.25551+35_25551+38del (n.25551+35_25551+38del) c.25542+35_25542+38del (n.25542+35_25542+38del) c.25512+35_25512+38del (n.25512+35_25512+38del) c.25548+35_25548+38del (n.25548+35_25548+38del) c.25494+35_25494+38del (n.25494+35_25494+38del) c.25491+35_25491+38del (n.25491+35_25491+38del) c.25479+35_25479+38del (n.25479+35_25479+38del) c.25422+35_25422+38del (n.25422+35_25422+38del) c.25410+35_25410+38del (n.25410+35_25410+38del) c.25407+35_25407+38del (n.25407+35_25407+38del) c.25404+35_25404+38del (n.25404+35_25404+38del) c.25560+35_25560+38del (n.25560+35_25560+38del) c.25398+35_25398+38del (n.25398+35_25398+38del) c.23838+35_23838+38del (n.23838+35_23838+38del) c.23331+35_23331+38del (n.23331+35_23331+38del) c.18798+35_18798+38del (n.18798+35_18798+38del) c.2064+35_2064+38del (n.2064+35_2064+38del) c.25536+35_25536+38del (n.25536+35_25536+38del) c.25485+35_25485+38del (n.25485+35_25485+38del) c.25338+35_25338+38del (n.25338+35_25338+38del) | dbSNP |
6 | g.152139913del | CA571437345 | SYNE1 | c.1992+37del (n.1992+37del) c.25458+37del (n.25458+37del) c.25314+37del (n.25314+37del) c.860+37del c.1193+37del c.1102+37del c.1230+37del (n.1230+37del) c.24243+37del (n.24243+37del) n.2206+37del c.4293+37del (n.4293+37del) n.9150+37del c.3396+37del (n.3396+37del) n.9042+37del n.2072+37del n.4480+37del n.2295+37del c.1923+37del (n.1923+37del) c.25563+37del (n.25563+37del) c.25551+37del (n.25551+37del) c.25542+37del (n.25542+37del) c.25512+37del (n.25512+37del) c.25548+37del (n.25548+37del) c.25494+37del (n.25494+37del) c.25491+37del (n.25491+37del) c.25479+37del (n.25479+37del) c.25422+37del (n.25422+37del) c.25410+37del (n.25410+37del) c.25407+37del (n.25407+37del) c.25404+37del (n.25404+37del) c.25560+37del (n.25560+37del) c.25398+37del (n.25398+37del) c.23838+37del (n.23838+37del) c.23331+37del (n.23331+37del) c.18798+37del (n.18798+37del) c.2064+37del (n.2064+37del) c.25536+37del (n.25536+37del) c.25485+37del (n.25485+37del) c.25338+37del (n.25338+37del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152139913C= | CA2742038490 | SYNE1 | c.1992+37G= (n.1992+37G=) c.25458+37G= (n.25458+37G=) c.25314+37G= (n.25314+37G=) c.860+37G= c.1193+37G= c.1102+37G= c.1230+37G= (n.1230+37G=) c.24243+37G= (n.24243+37G=) n.2206+37G= c.4293+37G= (n.4293+37G=) n.9150+37G= c.3396+37G= (n.3396+37G=) n.9042+37G= n.2072+37G= n.4480+37G= n.2295+37G= c.1923+37G= (n.1923+37G=) c.25563+37G= (n.25563+37G=) c.25551+37G= (n.25551+37G=) c.25542+37G= (n.25542+37G=) c.25512+37G= (n.25512+37G=) c.25548+37G= (n.25548+37G=) c.25494+37G= (n.25494+37G=) c.25491+37G= (n.25491+37G=) c.25479+37G= (n.25479+37G=) c.25422+37G= (n.25422+37G=) c.25410+37G= (n.25410+37G=) c.25407+37G= (n.25407+37G=) c.25404+37G= (n.25404+37G=) c.25560+37G= (n.25560+37G=) c.25398+37G= (n.25398+37G=) c.23838+37G= (n.23838+37G=) c.23331+37G= (n.23331+37G=) c.18798+37G= (n.18798+37G=) c.2064+37G= (n.2064+37G=) c.25536+37G= (n.25536+37G=) c.25485+37G= (n.25485+37G=) c.25338+37G= (n.25338+37G=) | |
6 | g.152139913_152139917delinsCTGTT | CA1673206051 | SYNE1 | c.1992+33_1992+37delinsAACAG (n.1992+33_1992+37delinsAACAG) c.25458+33_25458+37delinsAACAG (n.25458+33_25458+37delinsAACAG) c.25314+33_25314+37delinsAACAG (n.25314+33_25314+37delinsAACAG) c.860+33_860+37delinsAACAG c.1193+33_1193+37delinsAACAG c.1102+33_1102+37delinsAACAG c.1230+33_1230+37delinsAACAG (n.1230+33_1230+37delinsAACAG) c.24243+33_24243+37delinsAACAG (n.24243+33_24243+37delinsAACAG) n.2206+33_2206+37delinsAACAG c.4293+33_4293+37delinsAACAG (n.4293+33_4293+37delinsAACAG) n.9150+33_9150+37delinsAACAG c.3396+33_3396+37delinsAACAG (n.3396+33_3396+37delinsAACAG) n.9042+33_9042+37delinsAACAG n.2072+33_2072+37delinsAACAG n.4480+33_4480+37delinsAACAG n.2295+33_2295+37delinsAACAG c.1923+33_1923+37delinsAACAG (n.1923+33_1923+37delinsAACAG) c.25563+33_25563+37delinsAACAG (n.25563+33_25563+37delinsAACAG) c.25551+33_25551+37delinsAACAG (n.25551+33_25551+37delinsAACAG) c.25542+33_25542+37delinsAACAG (n.25542+33_25542+37delinsAACAG) c.25512+33_25512+37delinsAACAG (n.25512+33_25512+37delinsAACAG) c.25548+33_25548+37delinsAACAG (n.25548+33_25548+37delinsAACAG) c.25494+33_25494+37delinsAACAG (n.25494+33_25494+37delinsAACAG) c.25491+33_25491+37delinsAACAG (n.25491+33_25491+37delinsAACAG) c.25479+33_25479+37delinsAACAG (n.25479+33_25479+37delinsAACAG) c.25422+33_25422+37delinsAACAG (n.25422+33_25422+37delinsAACAG) c.25410+33_25410+37delinsAACAG (n.25410+33_25410+37delinsAACAG) c.25407+33_25407+37delinsAACAG (n.25407+33_25407+37delinsAACAG) c.25404+33_25404+37delinsAACAG (n.25404+33_25404+37delinsAACAG) c.25560+33_25560+37delinsAACAG (n.25560+33_25560+37delinsAACAG) c.25398+33_25398+37delinsAACAG (n.25398+33_25398+37delinsAACAG) c.23838+33_23838+37delinsAACAG (n.23838+33_23838+37delinsAACAG) c.23331+33_23331+37delinsAACAG (n.23331+33_23331+37delinsAACAG) c.18798+33_18798+37delinsAACAG (n.18798+33_18798+37delinsAACAG) c.2064+33_2064+37delinsAACAG (n.2064+33_2064+37delinsAACAG) c.25536+33_25536+37delinsAACAG (n.25536+33_25536+37delinsAACAG) c.25485+33_25485+37delinsAACAG (n.25485+33_25485+37delinsAACAG) c.25338+33_25338+37delinsAACAG (n.25338+33_25338+37delinsAACAG) | |
6 | g.152139914T>C | CA2680812921 | SYNE1 | c.1992+36A>G (n.1992+36A>G) c.25458+36A>G (n.25458+36A>G) c.25314+36A>G (n.25314+36A>G) c.860+36A>G c.1193+36A>G c.1102+36A>G c.1230+36A>G (n.1230+36A>G) c.24243+36A>G (n.24243+36A>G) n.2206+36A>G c.4293+36A>G (n.4293+36A>G) n.9150+36A>G c.3396+36A>G (n.3396+36A>G) n.9042+36A>G n.2072+36A>G n.4480+36A>G n.2295+36A>G c.1923+36A>G (n.1923+36A>G) c.25563+36A>G (n.25563+36A>G) c.25551+36A>G (n.25551+36A>G) c.25542+36A>G (n.25542+36A>G) c.25512+36A>G (n.25512+36A>G) c.25548+36A>G (n.25548+36A>G) c.25494+36A>G (n.25494+36A>G) c.25491+36A>G (n.25491+36A>G) c.25479+36A>G (n.25479+36A>G) c.25422+36A>G (n.25422+36A>G) c.25410+36A>G (n.25410+36A>G) c.25407+36A>G (n.25407+36A>G) c.25404+36A>G (n.25404+36A>G) c.25560+36A>G (n.25560+36A>G) c.25398+36A>G (n.25398+36A>G) c.23838+36A>G (n.23838+36A>G) c.23331+36A>G (n.23331+36A>G) c.18798+36A>G (n.18798+36A>G) c.2064+36A>G (n.2064+36A>G) c.25536+36A>G (n.25536+36A>G) c.25485+36A>G (n.25485+36A>G) c.25338+36A>G (n.25338+36A>G) | gnomAD v4 |
6 | g.152139917_152139920dup | CA150165397 | SYNE1 | c.1992+33_1992+36dup (n.1992+33_1992+36dup) c.25458+33_25458+36dup (n.25458+33_25458+36dup) c.25314+33_25314+36dup (n.25314+33_25314+36dup) c.860+33_860+36dup c.1193+33_1193+36dup c.1102+33_1102+36dup c.1230+33_1230+36dup (n.1230+33_1230+36dup) c.24243+33_24243+36dup (n.24243+33_24243+36dup) n.2206+33_2206+36dup c.4293+33_4293+36dup (n.4293+33_4293+36dup) n.9150+33_9150+36dup c.3396+33_3396+36dup (n.3396+33_3396+36dup) n.9042+33_9042+36dup n.2072+33_2072+36dup n.4480+33_4480+36dup n.2295+33_2295+36dup c.1923+33_1923+36dup (n.1923+33_1923+36dup) c.25563+33_25563+36dup (n.25563+33_25563+36dup) c.25551+33_25551+36dup (n.25551+33_25551+36dup) c.25542+33_25542+36dup (n.25542+33_25542+36dup) c.25512+33_25512+36dup (n.25512+33_25512+36dup) c.25548+33_25548+36dup (n.25548+33_25548+36dup) c.25494+33_25494+36dup (n.25494+33_25494+36dup) c.25491+33_25491+36dup (n.25491+33_25491+36dup) c.25479+33_25479+36dup (n.25479+33_25479+36dup) c.25422+33_25422+36dup (n.25422+33_25422+36dup) c.25410+33_25410+36dup (n.25410+33_25410+36dup) c.25407+33_25407+36dup (n.25407+33_25407+36dup) c.25404+33_25404+36dup (n.25404+33_25404+36dup) c.25560+33_25560+36dup (n.25560+33_25560+36dup) c.25398+33_25398+36dup (n.25398+33_25398+36dup) c.23838+33_23838+36dup (n.23838+33_23838+36dup) c.23331+33_23331+36dup (n.23331+33_23331+36dup) c.18798+33_18798+36dup (n.18798+33_18798+36dup) c.2064+33_2064+36dup (n.2064+33_2064+36dup) c.25536+33_25536+36dup (n.25536+33_25536+36dup) c.25485+33_25485+36dup (n.25485+33_25485+36dup) c.25338+33_25338+36dup (n.25338+33_25338+36dup) | dbSNP |
6 | g.152139917_152139920del | CA4052834 | SYNE1 | c.1992+33_1992+36del (n.1992+33_1992+36del) c.25458+33_25458+36del (n.25458+33_25458+36del) c.25314+33_25314+36del (n.25314+33_25314+36del) c.860+33_860+36del c.1193+33_1193+36del c.1102+33_1102+36del c.1230+33_1230+36del (n.1230+33_1230+36del) c.24243+33_24243+36del (n.24243+33_24243+36del) n.2206+33_2206+36del c.4293+33_4293+36del (n.4293+33_4293+36del) n.9150+33_9150+36del c.3396+33_3396+36del (n.3396+33_3396+36del) n.9042+33_9042+36del n.2072+33_2072+36del n.4480+33_4480+36del n.2295+33_2295+36del c.1923+33_1923+36del (n.1923+33_1923+36del) c.25563+33_25563+36del (n.25563+33_25563+36del) c.25551+33_25551+36del (n.25551+33_25551+36del) c.25542+33_25542+36del (n.25542+33_25542+36del) c.25512+33_25512+36del (n.25512+33_25512+36del) c.25548+33_25548+36del (n.25548+33_25548+36del) c.25494+33_25494+36del (n.25494+33_25494+36del) c.25491+33_25491+36del (n.25491+33_25491+36del) c.25479+33_25479+36del (n.25479+33_25479+36del) c.25422+33_25422+36del (n.25422+33_25422+36del) c.25410+33_25410+36del (n.25410+33_25410+36del) c.25407+33_25407+36del (n.25407+33_25407+36del) c.25404+33_25404+36del (n.25404+33_25404+36del) c.25560+33_25560+36del (n.25560+33_25560+36del) c.25398+33_25398+36del (n.25398+33_25398+36del) c.23838+33_23838+36del (n.23838+33_23838+36del) c.23331+33_23331+36del (n.23331+33_23331+36del) c.18798+33_18798+36del (n.18798+33_18798+36del) c.2064+33_2064+36del (n.2064+33_2064+36del) c.25536+33_25536+36del (n.25536+33_25536+36del) c.25485+33_25485+36del (n.25485+33_25485+36del) c.25338+33_25338+36del (n.25338+33_25338+36del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139915del | CA2680812922 | SYNE1 | c.1992+35del (n.1992+35del) c.25458+35del (n.25458+35del) c.25314+35del (n.25314+35del) c.860+35del c.1193+35del c.1102+35del c.1230+35del (n.1230+35del) c.24243+35del (n.24243+35del) n.2206+35del c.4293+35del (n.4293+35del) n.9150+35del c.3396+35del (n.3396+35del) n.9042+35del n.2072+35del n.4480+35del n.2295+35del c.1923+35del (n.1923+35del) c.25563+35del (n.25563+35del) c.25551+35del (n.25551+35del) c.25542+35del (n.25542+35del) c.25512+35del (n.25512+35del) c.25548+35del (n.25548+35del) c.25494+35del (n.25494+35del) c.25491+35del (n.25491+35del) c.25479+35del (n.25479+35del) c.25422+35del (n.25422+35del) c.25410+35del (n.25410+35del) c.25407+35del (n.25407+35del) c.25404+35del (n.25404+35del) c.25560+35del (n.25560+35del) c.25398+35del (n.25398+35del) c.23838+35del (n.23838+35del) c.23331+35del (n.23331+35del) c.18798+35del (n.18798+35del) c.2064+35del (n.2064+35del) c.25536+35del (n.25536+35del) c.25485+35del (n.25485+35del) c.25338+35del (n.25338+35del) | gnomAD v4 |
6 | g.152139916T>C | CA4052835 | SYNE1 | c.1992+34A>G (n.1992+34A>G) c.25458+34A>G (n.25458+34A>G) c.25314+34A>G (n.25314+34A>G) c.860+34A>G c.1193+34A>G c.1102+34A>G c.1230+34A>G (n.1230+34A>G) c.24243+34A>G (n.24243+34A>G) n.2206+34A>G c.4293+34A>G (n.4293+34A>G) n.9150+34A>G c.3396+34A>G (n.3396+34A>G) n.9042+34A>G n.2072+34A>G n.4480+34A>G n.2295+34A>G c.1923+34A>G (n.1923+34A>G) c.25563+34A>G (n.25563+34A>G) c.25551+34A>G (n.25551+34A>G) c.25542+34A>G (n.25542+34A>G) c.25512+34A>G (n.25512+34A>G) c.25548+34A>G (n.25548+34A>G) c.25494+34A>G (n.25494+34A>G) c.25491+34A>G (n.25491+34A>G) c.25479+34A>G (n.25479+34A>G) c.25422+34A>G (n.25422+34A>G) c.25410+34A>G (n.25410+34A>G) c.25407+34A>G (n.25407+34A>G) c.25404+34A>G (n.25404+34A>G) c.25560+34A>G (n.25560+34A>G) c.25398+34A>G (n.25398+34A>G) c.23838+34A>G (n.23838+34A>G) c.23331+34A>G (n.23331+34A>G) c.18798+34A>G (n.18798+34A>G) c.2064+34A>G (n.2064+34A>G) c.25536+34A>G (n.25536+34A>G) c.25485+34A>G (n.25485+34A>G) c.25338+34A>G (n.25338+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139916T= | CA1673206059 | SYNE1 | c.1992+34A= (n.1992+34A=) c.25458+34A= (n.25458+34A=) c.25314+34A= (n.25314+34A=) c.860+34A= c.1193+34A= c.1102+34A= c.1230+34A= (n.1230+34A=) c.24243+34A= (n.24243+34A=) n.2206+34A= c.4293+34A= (n.4293+34A=) n.9150+34A= c.3396+34A= (n.3396+34A=) n.9042+34A= n.2072+34A= n.4480+34A= n.2295+34A= c.1923+34A= (n.1923+34A=) c.25563+34A= (n.25563+34A=) c.25551+34A= (n.25551+34A=) c.25542+34A= (n.25542+34A=) c.25512+34A= (n.25512+34A=) c.25548+34A= (n.25548+34A=) c.25494+34A= (n.25494+34A=) c.25491+34A= (n.25491+34A=) c.25479+34A= (n.25479+34A=) c.25422+34A= (n.25422+34A=) c.25410+34A= (n.25410+34A=) c.25407+34A= (n.25407+34A=) c.25404+34A= (n.25404+34A=) c.25560+34A= (n.25560+34A=) c.25398+34A= (n.25398+34A=) c.23838+34A= (n.23838+34A=) c.23331+34A= (n.23331+34A=) c.18798+34A= (n.18798+34A=) c.2064+34A= (n.2064+34A=) c.25536+34A= (n.25536+34A=) c.25485+34A= (n.25485+34A=) c.25338+34A= (n.25338+34A=) | |
6 | g.152139917_152139918del | CA2680812923 | SYNE1 | c.1992+33_1992+34del (n.1992+33_1992+34del) c.25458+33_25458+34del (n.25458+33_25458+34del) c.25314+33_25314+34del (n.25314+33_25314+34del) c.860+33_860+34del c.1193+33_1193+34del c.1102+33_1102+34del c.1230+33_1230+34del (n.1230+33_1230+34del) c.24243+33_24243+34del (n.24243+33_24243+34del) n.2206+33_2206+34del c.4293+33_4293+34del (n.4293+33_4293+34del) n.9150+33_9150+34del c.3396+33_3396+34del (n.3396+33_3396+34del) n.9042+33_9042+34del n.2072+33_2072+34del n.4480+33_4480+34del n.2295+33_2295+34del c.1923+33_1923+34del (n.1923+33_1923+34del) c.25563+33_25563+34del (n.25563+33_25563+34del) c.25551+33_25551+34del (n.25551+33_25551+34del) c.25542+33_25542+34del (n.25542+33_25542+34del) c.25512+33_25512+34del (n.25512+33_25512+34del) c.25548+33_25548+34del (n.25548+33_25548+34del) c.25494+33_25494+34del (n.25494+33_25494+34del) c.25491+33_25491+34del (n.25491+33_25491+34del) c.25479+33_25479+34del (n.25479+33_25479+34del) c.25422+33_25422+34del (n.25422+33_25422+34del) c.25410+33_25410+34del (n.25410+33_25410+34del) c.25407+33_25407+34del (n.25407+33_25407+34del) c.25404+33_25404+34del (n.25404+33_25404+34del) c.25560+33_25560+34del (n.25560+33_25560+34del) c.25398+33_25398+34del (n.25398+33_25398+34del) c.23838+33_23838+34del (n.23838+33_23838+34del) c.23331+33_23331+34del (n.23331+33_23331+34del) c.18798+33_18798+34del (n.18798+33_18798+34del) c.2064+33_2064+34del (n.2064+33_2064+34del) c.25536+33_25536+34del (n.25536+33_25536+34del) c.25485+33_25485+34del (n.25485+33_25485+34del) c.25338+33_25338+34del (n.25338+33_25338+34del) | gnomAD v4 |
6 | g.152139917T>A | CA2680812925 | SYNE1 | c.1992+33A>T (n.1992+33A>T) c.25458+33A>T (n.25458+33A>T) c.25314+33A>T (n.25314+33A>T) c.860+33A>T c.1193+33A>T c.1102+33A>T c.1230+33A>T (n.1230+33A>T) c.24243+33A>T (n.24243+33A>T) n.2206+33A>T c.4293+33A>T (n.4293+33A>T) n.9150+33A>T c.3396+33A>T (n.3396+33A>T) n.9042+33A>T n.2072+33A>T n.4480+33A>T n.2295+33A>T c.1923+33A>T (n.1923+33A>T) c.25563+33A>T (n.25563+33A>T) c.25551+33A>T (n.25551+33A>T) c.25542+33A>T (n.25542+33A>T) c.25512+33A>T (n.25512+33A>T) c.25548+33A>T (n.25548+33A>T) c.25494+33A>T (n.25494+33A>T) c.25491+33A>T (n.25491+33A>T) c.25479+33A>T (n.25479+33A>T) c.25422+33A>T (n.25422+33A>T) c.25410+33A>T (n.25410+33A>T) c.25407+33A>T (n.25407+33A>T) c.25404+33A>T (n.25404+33A>T) c.25560+33A>T (n.25560+33A>T) c.25398+33A>T (n.25398+33A>T) c.23838+33A>T (n.23838+33A>T) c.23331+33A>T (n.23331+33A>T) c.18798+33A>T (n.18798+33A>T) c.2064+33A>T (n.2064+33A>T) c.25536+33A>T (n.25536+33A>T) c.25485+33A>T (n.25485+33A>T) c.25338+33A>T (n.25338+33A>T) | gnomAD v4 |
6 | g.152139917T>C | CA150165414 | SYNE1 | c.1992+33A>G (n.1992+33A>G) c.25458+33A>G (n.25458+33A>G) c.25314+33A>G (n.25314+33A>G) c.860+33A>G c.1193+33A>G c.1102+33A>G c.1230+33A>G (n.1230+33A>G) c.24243+33A>G (n.24243+33A>G) n.2206+33A>G c.4293+33A>G (n.4293+33A>G) n.9150+33A>G c.3396+33A>G (n.3396+33A>G) n.9042+33A>G n.2072+33A>G n.4480+33A>G n.2295+33A>G c.1923+33A>G (n.1923+33A>G) c.25563+33A>G (n.25563+33A>G) c.25551+33A>G (n.25551+33A>G) c.25542+33A>G (n.25542+33A>G) c.25512+33A>G (n.25512+33A>G) c.25548+33A>G (n.25548+33A>G) c.25494+33A>G (n.25494+33A>G) c.25491+33A>G (n.25491+33A>G) c.25479+33A>G (n.25479+33A>G) c.25422+33A>G (n.25422+33A>G) c.25410+33A>G (n.25410+33A>G) c.25407+33A>G (n.25407+33A>G) c.25404+33A>G (n.25404+33A>G) c.25560+33A>G (n.25560+33A>G) c.25398+33A>G (n.25398+33A>G) c.23838+33A>G (n.23838+33A>G) c.23331+33A>G (n.23331+33A>G) c.18798+33A>G (n.18798+33A>G) c.2064+33A>G (n.2064+33A>G) c.25536+33A>G (n.25536+33A>G) c.25485+33A>G (n.25485+33A>G) c.25338+33A>G (n.25338+33A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139917T>G | CA2773583984 | SYNE1 | c.1992+33A>C (n.1992+33A>C) c.25458+33A>C (n.25458+33A>C) c.25314+33A>C (n.25314+33A>C) c.860+33A>C c.1193+33A>C c.1102+33A>C c.1230+33A>C (n.1230+33A>C) c.24243+33A>C (n.24243+33A>C) n.2206+33A>C c.4293+33A>C (n.4293+33A>C) n.9150+33A>C c.3396+33A>C (n.3396+33A>C) n.9042+33A>C n.2072+33A>C n.4480+33A>C n.2295+33A>C c.1923+33A>C (n.1923+33A>C) c.25563+33A>C (n.25563+33A>C) c.25551+33A>C (n.25551+33A>C) c.25542+33A>C (n.25542+33A>C) c.25512+33A>C (n.25512+33A>C) c.25548+33A>C (n.25548+33A>C) c.25494+33A>C (n.25494+33A>C) c.25491+33A>C (n.25491+33A>C) c.25479+33A>C (n.25479+33A>C) c.25422+33A>C (n.25422+33A>C) c.25410+33A>C (n.25410+33A>C) c.25407+33A>C (n.25407+33A>C) c.25404+33A>C (n.25404+33A>C) c.25560+33A>C (n.25560+33A>C) c.25398+33A>C (n.25398+33A>C) c.23838+33A>C (n.23838+33A>C) c.23331+33A>C (n.23331+33A>C) c.18798+33A>C (n.18798+33A>C) c.2064+33A>C (n.2064+33A>C) c.25536+33A>C (n.25536+33A>C) c.25485+33A>C (n.25485+33A>C) c.25338+33A>C (n.25338+33A>C) | |
6 | g.152139917T= | CA1673206061 | SYNE1 | c.1992+33A= (n.1992+33A=) c.25458+33A= (n.25458+33A=) c.25314+33A= (n.25314+33A=) c.860+33A= c.1193+33A= c.1102+33A= c.1230+33A= (n.1230+33A=) c.24243+33A= (n.24243+33A=) n.2206+33A= c.4293+33A= (n.4293+33A=) n.9150+33A= c.3396+33A= (n.3396+33A=) n.9042+33A= n.2072+33A= n.4480+33A= n.2295+33A= c.1923+33A= (n.1923+33A=) c.25563+33A= (n.25563+33A=) c.25551+33A= (n.25551+33A=) c.25542+33A= (n.25542+33A=) c.25512+33A= (n.25512+33A=) c.25548+33A= (n.25548+33A=) c.25494+33A= (n.25494+33A=) c.25491+33A= (n.25491+33A=) c.25479+33A= (n.25479+33A=) c.25422+33A= (n.25422+33A=) c.25410+33A= (n.25410+33A=) c.25407+33A= (n.25407+33A=) c.25404+33A= (n.25404+33A=) c.25560+33A= (n.25560+33A=) c.25398+33A= (n.25398+33A=) c.23838+33A= (n.23838+33A=) c.23331+33A= (n.23331+33A=) c.18798+33A= (n.18798+33A=) c.2064+33A= (n.2064+33A=) c.25536+33A= (n.25536+33A=) c.25485+33A= (n.25485+33A=) c.25338+33A= (n.25338+33A=) | |
6 | g.152139918_152139920del | CA2680812924 | SYNE1 | c.1992+31_1992+33del (n.1992+31_1992+33del) c.25458+31_25458+33del (n.25458+31_25458+33del) c.25314+31_25314+33del (n.25314+31_25314+33del) c.860+31_860+33del c.1193+31_1193+33del c.1102+31_1102+33del c.1230+31_1230+33del (n.1230+31_1230+33del) c.24243+31_24243+33del (n.24243+31_24243+33del) n.2206+31_2206+33del c.4293+31_4293+33del (n.4293+31_4293+33del) n.9150+31_9150+33del c.3396+31_3396+33del (n.3396+31_3396+33del) n.9042+31_9042+33del n.2072+31_2072+33del n.4480+31_4480+33del n.2295+31_2295+33del c.1923+31_1923+33del (n.1923+31_1923+33del) c.25563+31_25563+33del (n.25563+31_25563+33del) c.25551+31_25551+33del (n.25551+31_25551+33del) c.25542+31_25542+33del (n.25542+31_25542+33del) c.25512+31_25512+33del (n.25512+31_25512+33del) c.25548+31_25548+33del (n.25548+31_25548+33del) c.25494+31_25494+33del (n.25494+31_25494+33del) c.25491+31_25491+33del (n.25491+31_25491+33del) c.25479+31_25479+33del (n.25479+31_25479+33del) c.25422+31_25422+33del (n.25422+31_25422+33del) c.25410+31_25410+33del (n.25410+31_25410+33del) c.25407+31_25407+33del (n.25407+31_25407+33del) c.25404+31_25404+33del (n.25404+31_25404+33del) c.25560+31_25560+33del (n.25560+31_25560+33del) c.25398+31_25398+33del (n.25398+31_25398+33del) c.23838+31_23838+33del (n.23838+31_23838+33del) c.23331+31_23331+33del (n.23331+31_23331+33del) c.18798+31_18798+33del (n.18798+31_18798+33del) c.2064+31_2064+33del (n.2064+31_2064+33del) c.25536+31_25536+33del (n.25536+31_25536+33del) c.25485+31_25485+33del (n.25485+31_25485+33del) c.25338+31_25338+33del (n.25338+31_25338+33del) | gnomAD v4 |
6 | g.152139918T>C | CA4052836 | SYNE1 | c.1992+32A>G (n.1992+32A>G) c.25458+32A>G (n.25458+32A>G) c.25314+32A>G (n.25314+32A>G) c.860+32A>G c.1193+32A>G c.1102+32A>G c.1230+32A>G (n.1230+32A>G) c.24243+32A>G (n.24243+32A>G) n.2206+32A>G c.4293+32A>G (n.4293+32A>G) n.9150+32A>G c.3396+32A>G (n.3396+32A>G) n.9042+32A>G n.2072+32A>G n.4480+32A>G n.2295+32A>G c.1923+32A>G (n.1923+32A>G) c.25563+32A>G (n.25563+32A>G) c.25551+32A>G (n.25551+32A>G) c.25542+32A>G (n.25542+32A>G) c.25512+32A>G (n.25512+32A>G) c.25548+32A>G (n.25548+32A>G) c.25494+32A>G (n.25494+32A>G) c.25491+32A>G (n.25491+32A>G) c.25479+32A>G (n.25479+32A>G) c.25422+32A>G (n.25422+32A>G) c.25410+32A>G (n.25410+32A>G) c.25407+32A>G (n.25407+32A>G) c.25404+32A>G (n.25404+32A>G) c.25560+32A>G (n.25560+32A>G) c.25398+32A>G (n.25398+32A>G) c.23838+32A>G (n.23838+32A>G) c.23331+32A>G (n.23331+32A>G) c.18798+32A>G (n.18798+32A>G) c.2064+32A>G (n.2064+32A>G) c.25536+32A>G (n.25536+32A>G) c.25485+32A>G (n.25485+32A>G) c.25338+32A>G (n.25338+32A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152139918T= | CA1673206062 | SYNE1 | c.1992+32A= (n.1992+32A=) c.25458+32A= (n.25458+32A=) c.25314+32A= (n.25314+32A=) c.860+32A= c.1193+32A= c.1102+32A= c.1230+32A= (n.1230+32A=) c.24243+32A= (n.24243+32A=) n.2206+32A= c.4293+32A= (n.4293+32A=) n.9150+32A= c.3396+32A= (n.3396+32A=) n.9042+32A= n.2072+32A= n.4480+32A= n.2295+32A= c.1923+32A= (n.1923+32A=) c.25563+32A= (n.25563+32A=) c.25551+32A= (n.25551+32A=) c.25542+32A= (n.25542+32A=) c.25512+32A= (n.25512+32A=) c.25548+32A= (n.25548+32A=) c.25494+32A= (n.25494+32A=) c.25491+32A= (n.25491+32A=) c.25479+32A= (n.25479+32A=) c.25422+32A= (n.25422+32A=) c.25410+32A= (n.25410+32A=) c.25407+32A= (n.25407+32A=) c.25404+32A= (n.25404+32A=) c.25560+32A= (n.25560+32A=) c.25398+32A= (n.25398+32A=) c.23838+32A= (n.23838+32A=) c.23331+32A= (n.23331+32A=) c.18798+32A= (n.18798+32A=) c.2064+32A= (n.2064+32A=) c.25536+32A= (n.25536+32A=) c.25485+32A= (n.25485+32A=) c.25338+32A= (n.25338+32A=) | |
6 | g.152139922C>A | CA2680812926 | SYNE1 | c.1992+28G>T (n.1992+28G>T) c.25458+28G>T (n.25458+28G>T) c.25314+28G>T (n.25314+28G>T) c.860+28G>T c.1193+28G>T c.1102+28G>T c.1230+28G>T (n.1230+28G>T) c.24243+28G>T (n.24243+28G>T) n.2206+28G>T c.4293+28G>T (n.4293+28G>T) n.9150+28G>T c.3396+28G>T (n.3396+28G>T) n.9042+28G>T n.2072+28G>T n.4480+28G>T n.2295+28G>T c.1923+28G>T (n.1923+28G>T) c.25563+28G>T (n.25563+28G>T) c.25551+28G>T (n.25551+28G>T) c.25542+28G>T (n.25542+28G>T) c.25512+28G>T (n.25512+28G>T) c.25548+28G>T (n.25548+28G>T) c.25494+28G>T (n.25494+28G>T) c.25491+28G>T (n.25491+28G>T) c.25479+28G>T (n.25479+28G>T) c.25422+28G>T (n.25422+28G>T) c.25410+28G>T (n.25410+28G>T) c.25407+28G>T (n.25407+28G>T) c.25404+28G>T (n.25404+28G>T) c.25560+28G>T (n.25560+28G>T) c.25398+28G>T (n.25398+28G>T) c.23838+28G>T (n.23838+28G>T) c.23331+28G>T (n.23331+28G>T) c.18798+28G>T (n.18798+28G>T) c.2064+28G>T (n.2064+28G>T) c.25536+28G>T (n.25536+28G>T) c.25485+28G>T (n.25485+28G>T) c.25338+28G>T (n.25338+28G>T) | gnomAD v4 |
6 | g.152139922C= | CA1673206064 | SYNE1 | c.1992+28G= (n.1992+28G=) c.25458+28G= (n.25458+28G=) c.25314+28G= (n.25314+28G=) c.860+28G= c.1193+28G= c.1102+28G= c.1230+28G= (n.1230+28G=) c.24243+28G= (n.24243+28G=) n.2206+28G= c.4293+28G= (n.4293+28G=) n.9150+28G= c.3396+28G= (n.3396+28G=) n.9042+28G= n.2072+28G= n.4480+28G= n.2295+28G= c.1923+28G= (n.1923+28G=) c.25563+28G= (n.25563+28G=) c.25551+28G= (n.25551+28G=) c.25542+28G= (n.25542+28G=) c.25512+28G= (n.25512+28G=) c.25548+28G= (n.25548+28G=) c.25494+28G= (n.25494+28G=) c.25491+28G= (n.25491+28G=) c.25479+28G= (n.25479+28G=) c.25422+28G= (n.25422+28G=) c.25410+28G= (n.25410+28G=) c.25407+28G= (n.25407+28G=) c.25404+28G= (n.25404+28G=) c.25560+28G= (n.25560+28G=) c.25398+28G= (n.25398+28G=) c.23838+28G= (n.23838+28G=) c.23331+28G= (n.23331+28G=) c.18798+28G= (n.18798+28G=) c.2064+28G= (n.2064+28G=) c.25536+28G= (n.25536+28G=) c.25485+28G= (n.25485+28G=) c.25338+28G= (n.25338+28G=) | |
6 | g.152139922C>T | CA4052837 | SYNE1 | c.1992+28G>A (n.1992+28G>A) c.25458+28G>A (n.25458+28G>A) c.25314+28G>A (n.25314+28G>A) c.860+28G>A c.1193+28G>A c.1102+28G>A c.1230+28G>A (n.1230+28G>A) c.24243+28G>A (n.24243+28G>A) n.2206+28G>A c.4293+28G>A (n.4293+28G>A) n.9150+28G>A c.3396+28G>A (n.3396+28G>A) n.9042+28G>A n.2072+28G>A n.4480+28G>A n.2295+28G>A c.1923+28G>A (n.1923+28G>A) c.25563+28G>A (n.25563+28G>A) c.25551+28G>A (n.25551+28G>A) c.25542+28G>A (n.25542+28G>A) c.25512+28G>A (n.25512+28G>A) c.25548+28G>A (n.25548+28G>A) c.25494+28G>A (n.25494+28G>A) c.25491+28G>A (n.25491+28G>A) c.25479+28G>A (n.25479+28G>A) c.25422+28G>A (n.25422+28G>A) c.25410+28G>A (n.25410+28G>A) c.25407+28G>A (n.25407+28G>A) c.25404+28G>A (n.25404+28G>A) c.25560+28G>A (n.25560+28G>A) c.25398+28G>A (n.25398+28G>A) c.23838+28G>A (n.23838+28G>A) c.23331+28G>A (n.23331+28G>A) c.18798+28G>A (n.18798+28G>A) c.2064+28G>A (n.2064+28G>A) c.25536+28G>A (n.25536+28G>A) c.25485+28G>A (n.25485+28G>A) c.25338+28G>A (n.25338+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139923G>A | CA4052838 | SYNE1 | c.1992+27C>T (n.1992+27C>T) c.25458+27C>T (n.25458+27C>T) c.25314+27C>T (n.25314+27C>T) c.860+27C>T c.1193+27C>T c.1102+27C>T c.1230+27C>T (n.1230+27C>T) c.24243+27C>T (n.24243+27C>T) n.2206+27C>T c.4293+27C>T (n.4293+27C>T) n.9150+27C>T c.3396+27C>T (n.3396+27C>T) n.9042+27C>T n.2072+27C>T n.4480+27C>T n.2295+27C>T c.1923+27C>T (n.1923+27C>T) c.25563+27C>T (n.25563+27C>T) c.25551+27C>T (n.25551+27C>T) c.25542+27C>T (n.25542+27C>T) c.25512+27C>T (n.25512+27C>T) c.25548+27C>T (n.25548+27C>T) c.25494+27C>T (n.25494+27C>T) c.25491+27C>T (n.25491+27C>T) c.25479+27C>T (n.25479+27C>T) c.25422+27C>T (n.25422+27C>T) c.25410+27C>T (n.25410+27C>T) c.25407+27C>T (n.25407+27C>T) c.25404+27C>T (n.25404+27C>T) c.25560+27C>T (n.25560+27C>T) c.25398+27C>T (n.25398+27C>T) c.23838+27C>T (n.23838+27C>T) c.23331+27C>T (n.23331+27C>T) c.18798+27C>T (n.18798+27C>T) c.2064+27C>T (n.2064+27C>T) c.25536+27C>T (n.25536+27C>T) c.25485+27C>T (n.25485+27C>T) c.25338+27C>T (n.25338+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139923G= | CA1673206065 | SYNE1 | c.1992+27C= (n.1992+27C=) c.25458+27C= (n.25458+27C=) c.25314+27C= (n.25314+27C=) c.860+27C= c.1193+27C= c.1102+27C= c.1230+27C= (n.1230+27C=) c.24243+27C= (n.24243+27C=) n.2206+27C= c.4293+27C= (n.4293+27C=) n.9150+27C= c.3396+27C= (n.3396+27C=) n.9042+27C= n.2072+27C= n.4480+27C= n.2295+27C= c.1923+27C= (n.1923+27C=) c.25563+27C= (n.25563+27C=) c.25551+27C= (n.25551+27C=) c.25542+27C= (n.25542+27C=) c.25512+27C= (n.25512+27C=) c.25548+27C= (n.25548+27C=) c.25494+27C= (n.25494+27C=) c.25491+27C= (n.25491+27C=) c.25479+27C= (n.25479+27C=) c.25422+27C= (n.25422+27C=) c.25410+27C= (n.25410+27C=) c.25407+27C= (n.25407+27C=) c.25404+27C= (n.25404+27C=) c.25560+27C= (n.25560+27C=) c.25398+27C= (n.25398+27C=) c.23838+27C= (n.23838+27C=) c.23331+27C= (n.23331+27C=) c.18798+27C= (n.18798+27C=) c.2064+27C= (n.2064+27C=) c.25536+27C= (n.25536+27C=) c.25485+27C= (n.25485+27C=) c.25338+27C= (n.25338+27C=) | |
6 | g.152139923G>T | CA2680812927 | SYNE1 | c.1992+27C>A (n.1992+27C>A) c.25458+27C>A (n.25458+27C>A) c.25314+27C>A (n.25314+27C>A) c.860+27C>A c.1193+27C>A c.1102+27C>A c.1230+27C>A (n.1230+27C>A) c.24243+27C>A (n.24243+27C>A) n.2206+27C>A c.4293+27C>A (n.4293+27C>A) n.9150+27C>A c.3396+27C>A (n.3396+27C>A) n.9042+27C>A n.2072+27C>A n.4480+27C>A n.2295+27C>A c.1923+27C>A (n.1923+27C>A) c.25563+27C>A (n.25563+27C>A) c.25551+27C>A (n.25551+27C>A) c.25542+27C>A (n.25542+27C>A) c.25512+27C>A (n.25512+27C>A) c.25548+27C>A (n.25548+27C>A) c.25494+27C>A (n.25494+27C>A) c.25491+27C>A (n.25491+27C>A) c.25479+27C>A (n.25479+27C>A) c.25422+27C>A (n.25422+27C>A) c.25410+27C>A (n.25410+27C>A) c.25407+27C>A (n.25407+27C>A) c.25404+27C>A (n.25404+27C>A) c.25560+27C>A (n.25560+27C>A) c.25398+27C>A (n.25398+27C>A) c.23838+27C>A (n.23838+27C>A) c.23331+27C>A (n.23331+27C>A) c.18798+27C>A (n.18798+27C>A) c.2064+27C>A (n.2064+27C>A) c.25536+27C>A (n.25536+27C>A) c.25485+27C>A (n.25485+27C>A) c.25338+27C>A (n.25338+27C>A) | gnomAD v4 |
6 | g.152139925C= | CA1673206069 | SYNE1 | c.1992+25G= (n.1992+25G=) c.25458+25G= (n.25458+25G=) c.25314+25G= (n.25314+25G=) c.860+25G= c.1193+25G= c.1102+25G= c.1230+25G= (n.1230+25G=) c.24243+25G= (n.24243+25G=) n.2206+25G= c.4293+25G= (n.4293+25G=) n.9150+25G= c.3396+25G= (n.3396+25G=) n.9042+25G= n.2072+25G= n.4480+25G= n.2295+25G= c.1923+25G= (n.1923+25G=) c.25563+25G= (n.25563+25G=) c.25551+25G= (n.25551+25G=) c.25542+25G= (n.25542+25G=) c.25512+25G= (n.25512+25G=) c.25548+25G= (n.25548+25G=) c.25494+25G= (n.25494+25G=) c.25491+25G= (n.25491+25G=) c.25479+25G= (n.25479+25G=) c.25422+25G= (n.25422+25G=) c.25410+25G= (n.25410+25G=) c.25407+25G= (n.25407+25G=) c.25404+25G= (n.25404+25G=) c.25560+25G= (n.25560+25G=) c.25398+25G= (n.25398+25G=) c.23838+25G= (n.23838+25G=) c.23331+25G= (n.23331+25G=) c.18798+25G= (n.18798+25G=) c.2064+25G= (n.2064+25G=) c.25536+25G= (n.25536+25G=) c.25485+25G= (n.25485+25G=) c.25338+25G= (n.25338+25G=) | |
6 | g.152139925C>G | CA4052840 | SYNE1 | c.1992+25G>C (n.1992+25G>C) c.25458+25G>C (n.25458+25G>C) c.25314+25G>C (n.25314+25G>C) c.860+25G>C c.1193+25G>C c.1102+25G>C c.1230+25G>C (n.1230+25G>C) c.24243+25G>C (n.24243+25G>C) n.2206+25G>C c.4293+25G>C (n.4293+25G>C) n.9150+25G>C c.3396+25G>C (n.3396+25G>C) n.9042+25G>C n.2072+25G>C n.4480+25G>C n.2295+25G>C c.1923+25G>C (n.1923+25G>C) c.25563+25G>C (n.25563+25G>C) c.25551+25G>C (n.25551+25G>C) c.25542+25G>C (n.25542+25G>C) c.25512+25G>C (n.25512+25G>C) c.25548+25G>C (n.25548+25G>C) c.25494+25G>C (n.25494+25G>C) c.25491+25G>C (n.25491+25G>C) c.25479+25G>C (n.25479+25G>C) c.25422+25G>C (n.25422+25G>C) c.25410+25G>C (n.25410+25G>C) c.25407+25G>C (n.25407+25G>C) c.25404+25G>C (n.25404+25G>C) c.25560+25G>C (n.25560+25G>C) c.25398+25G>C (n.25398+25G>C) c.23838+25G>C (n.23838+25G>C) c.23331+25G>C (n.23331+25G>C) c.18798+25G>C (n.18798+25G>C) c.2064+25G>C (n.2064+25G>C) c.25536+25G>C (n.25536+25G>C) c.25485+25G>C (n.25485+25G>C) c.25338+25G>C (n.25338+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152139925C>T | CA4052839 | SYNE1 | c.1992+25G>A (n.1992+25G>A) c.25458+25G>A (n.25458+25G>A) c.25314+25G>A (n.25314+25G>A) c.860+25G>A c.1193+25G>A c.1102+25G>A c.1230+25G>A (n.1230+25G>A) c.24243+25G>A (n.24243+25G>A) n.2206+25G>A c.4293+25G>A (n.4293+25G>A) n.9150+25G>A c.3396+25G>A (n.3396+25G>A) n.9042+25G>A n.2072+25G>A n.4480+25G>A n.2295+25G>A c.1923+25G>A (n.1923+25G>A) c.25563+25G>A (n.25563+25G>A) c.25551+25G>A (n.25551+25G>A) c.25542+25G>A (n.25542+25G>A) c.25512+25G>A (n.25512+25G>A) c.25548+25G>A (n.25548+25G>A) c.25494+25G>A (n.25494+25G>A) c.25491+25G>A (n.25491+25G>A) c.25479+25G>A (n.25479+25G>A) c.25422+25G>A (n.25422+25G>A) c.25410+25G>A (n.25410+25G>A) c.25407+25G>A (n.25407+25G>A) c.25404+25G>A (n.25404+25G>A) c.25560+25G>A (n.25560+25G>A) c.25398+25G>A (n.25398+25G>A) c.23838+25G>A (n.23838+25G>A) c.23331+25G>A (n.23331+25G>A) c.18798+25G>A (n.18798+25G>A) c.2064+25G>A (n.2064+25G>A) c.25536+25G>A (n.25536+25G>A) c.25485+25G>A (n.25485+25G>A) c.25338+25G>A (n.25338+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139926G>A | CA4052841 | SYNE1 | c.1992+24C>T (n.1992+24C>T) c.25458+24C>T (n.25458+24C>T) c.25314+24C>T (n.25314+24C>T) c.860+24C>T c.1193+24C>T c.1102+24C>T c.1230+24C>T (n.1230+24C>T) c.24243+24C>T (n.24243+24C>T) n.2206+24C>T c.4293+24C>T (n.4293+24C>T) n.9150+24C>T c.3396+24C>T (n.3396+24C>T) n.9042+24C>T n.2072+24C>T n.4480+24C>T n.2295+24C>T c.1923+24C>T (n.1923+24C>T) c.25563+24C>T (n.25563+24C>T) c.25551+24C>T (n.25551+24C>T) c.25542+24C>T (n.25542+24C>T) c.25512+24C>T (n.25512+24C>T) c.25548+24C>T (n.25548+24C>T) c.25494+24C>T (n.25494+24C>T) c.25491+24C>T (n.25491+24C>T) c.25479+24C>T (n.25479+24C>T) c.25422+24C>T (n.25422+24C>T) c.25410+24C>T (n.25410+24C>T) c.25407+24C>T (n.25407+24C>T) c.25404+24C>T (n.25404+24C>T) c.25560+24C>T (n.25560+24C>T) c.25398+24C>T (n.25398+24C>T) c.23838+24C>T (n.23838+24C>T) c.23331+24C>T (n.23331+24C>T) c.18798+24C>T (n.18798+24C>T) c.2064+24C>T (n.2064+24C>T) c.25536+24C>T (n.25536+24C>T) c.25485+24C>T (n.25485+24C>T) c.25338+24C>T (n.25338+24C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152139926G>C | CA2581630368 | SYNE1 | c.1992+24C>G (n.1992+24C>G) c.25458+24C>G (n.25458+24C>G) c.25314+24C>G (n.25314+24C>G) c.860+24C>G c.1193+24C>G c.1102+24C>G c.1230+24C>G (n.1230+24C>G) c.24243+24C>G (n.24243+24C>G) n.2206+24C>G c.4293+24C>G (n.4293+24C>G) n.9150+24C>G c.3396+24C>G (n.3396+24C>G) n.9042+24C>G n.2072+24C>G n.4480+24C>G n.2295+24C>G c.1923+24C>G (n.1923+24C>G) c.25563+24C>G (n.25563+24C>G) c.25551+24C>G (n.25551+24C>G) c.25542+24C>G (n.25542+24C>G) c.25512+24C>G (n.25512+24C>G) c.25548+24C>G (n.25548+24C>G) c.25494+24C>G (n.25494+24C>G) c.25491+24C>G (n.25491+24C>G) c.25479+24C>G (n.25479+24C>G) c.25422+24C>G (n.25422+24C>G) c.25410+24C>G (n.25410+24C>G) c.25407+24C>G (n.25407+24C>G) c.25404+24C>G (n.25404+24C>G) c.25560+24C>G (n.25560+24C>G) c.25398+24C>G (n.25398+24C>G) c.23838+24C>G (n.23838+24C>G) c.23331+24C>G (n.23331+24C>G) c.18798+24C>G (n.18798+24C>G) c.2064+24C>G (n.2064+24C>G) c.25536+24C>G (n.25536+24C>G) c.25485+24C>G (n.25485+24C>G) c.25338+24C>G (n.25338+24C>G) | |
6 | g.152139926G= | CA1673206077 | SYNE1 | c.1992+24C= (n.1992+24C=) c.25458+24C= (n.25458+24C=) c.25314+24C= (n.25314+24C=) c.860+24C= c.1193+24C= c.1102+24C= c.1230+24C= (n.1230+24C=) c.24243+24C= (n.24243+24C=) n.2206+24C= c.4293+24C= (n.4293+24C=) n.9150+24C= c.3396+24C= (n.3396+24C=) n.9042+24C= n.2072+24C= n.4480+24C= n.2295+24C= c.1923+24C= (n.1923+24C=) c.25563+24C= (n.25563+24C=) c.25551+24C= (n.25551+24C=) c.25542+24C= (n.25542+24C=) c.25512+24C= (n.25512+24C=) c.25548+24C= (n.25548+24C=) c.25494+24C= (n.25494+24C=) c.25491+24C= (n.25491+24C=) c.25479+24C= (n.25479+24C=) c.25422+24C= (n.25422+24C=) c.25410+24C= (n.25410+24C=) c.25407+24C= (n.25407+24C=) c.25404+24C= (n.25404+24C=) c.25560+24C= (n.25560+24C=) c.25398+24C= (n.25398+24C=) c.23838+24C= (n.23838+24C=) c.23331+24C= (n.23331+24C=) c.18798+24C= (n.18798+24C=) c.2064+24C= (n.2064+24C=) c.25536+24C= (n.25536+24C=) c.25485+24C= (n.25485+24C=) c.25338+24C= (n.25338+24C=) | |
6 | g.152139926G>T | CA651262926 | SYNE1 | c.1992+24C>A (n.1992+24C>A) c.25458+24C>A (n.25458+24C>A) c.25314+24C>A (n.25314+24C>A) c.860+24C>A c.1193+24C>A c.1102+24C>A c.1230+24C>A (n.1230+24C>A) c.24243+24C>A (n.24243+24C>A) n.2206+24C>A c.4293+24C>A (n.4293+24C>A) n.9150+24C>A c.3396+24C>A (n.3396+24C>A) n.9042+24C>A n.2072+24C>A n.4480+24C>A n.2295+24C>A c.1923+24C>A (n.1923+24C>A) c.25563+24C>A (n.25563+24C>A) c.25551+24C>A (n.25551+24C>A) c.25542+24C>A (n.25542+24C>A) c.25512+24C>A (n.25512+24C>A) c.25548+24C>A (n.25548+24C>A) c.25494+24C>A (n.25494+24C>A) c.25491+24C>A (n.25491+24C>A) c.25479+24C>A (n.25479+24C>A) c.25422+24C>A (n.25422+24C>A) c.25410+24C>A (n.25410+24C>A) c.25407+24C>A (n.25407+24C>A) c.25404+24C>A (n.25404+24C>A) c.25560+24C>A (n.25560+24C>A) c.25398+24C>A (n.25398+24C>A) c.23838+24C>A (n.23838+24C>A) c.23331+24C>A (n.23331+24C>A) c.18798+24C>A (n.18798+24C>A) c.2064+24C>A (n.2064+24C>A) c.25536+24C>A (n.25536+24C>A) c.25485+24C>A (n.25485+24C>A) c.25338+24C>A (n.25338+24C>A) | COSMIC |
6 | g.152139927T>C | CA1095924162 | SYNE1 | c.1992+23A>G (n.1992+23A>G) c.25458+23A>G (n.25458+23A>G) c.25314+23A>G (n.25314+23A>G) c.860+23A>G c.1193+23A>G c.1102+23A>G c.1230+23A>G (n.1230+23A>G) c.24243+23A>G (n.24243+23A>G) n.2206+23A>G c.4293+23A>G (n.4293+23A>G) n.9150+23A>G c.3396+23A>G (n.3396+23A>G) n.9042+23A>G n.2072+23A>G n.4480+23A>G n.2295+23A>G c.1923+23A>G (n.1923+23A>G) c.25563+23A>G (n.25563+23A>G) c.25551+23A>G (n.25551+23A>G) c.25542+23A>G (n.25542+23A>G) c.25512+23A>G (n.25512+23A>G) c.25548+23A>G (n.25548+23A>G) c.25494+23A>G (n.25494+23A>G) c.25491+23A>G (n.25491+23A>G) c.25479+23A>G (n.25479+23A>G) c.25422+23A>G (n.25422+23A>G) c.25410+23A>G (n.25410+23A>G) c.25407+23A>G (n.25407+23A>G) c.25404+23A>G (n.25404+23A>G) c.25560+23A>G (n.25560+23A>G) c.25398+23A>G (n.25398+23A>G) c.23838+23A>G (n.23838+23A>G) c.23331+23A>G (n.23331+23A>G) c.18798+23A>G (n.18798+23A>G) c.2064+23A>G (n.2064+23A>G) c.25536+23A>G (n.25536+23A>G) c.25485+23A>G (n.25485+23A>G) c.25338+23A>G (n.25338+23A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152139927T= | CA1673206079 | SYNE1 | c.1992+23A= (n.1992+23A=) c.25458+23A= (n.25458+23A=) c.25314+23A= (n.25314+23A=) c.860+23A= c.1193+23A= c.1102+23A= c.1230+23A= (n.1230+23A=) c.24243+23A= (n.24243+23A=) n.2206+23A= c.4293+23A= (n.4293+23A=) n.9150+23A= c.3396+23A= (n.3396+23A=) n.9042+23A= n.2072+23A= n.4480+23A= n.2295+23A= c.1923+23A= (n.1923+23A=) c.25563+23A= (n.25563+23A=) c.25551+23A= (n.25551+23A=) c.25542+23A= (n.25542+23A=) c.25512+23A= (n.25512+23A=) c.25548+23A= (n.25548+23A=) c.25494+23A= (n.25494+23A=) c.25491+23A= (n.25491+23A=) c.25479+23A= (n.25479+23A=) c.25422+23A= (n.25422+23A=) c.25410+23A= (n.25410+23A=) c.25407+23A= (n.25407+23A=) c.25404+23A= (n.25404+23A=) c.25560+23A= (n.25560+23A=) c.25398+23A= (n.25398+23A=) c.23838+23A= (n.23838+23A=) c.23331+23A= (n.23331+23A=) c.18798+23A= (n.18798+23A=) c.2064+23A= (n.2064+23A=) c.25536+23A= (n.25536+23A=) c.25485+23A= (n.25485+23A=) c.25338+23A= (n.25338+23A=) | |
6 | g.152139929G>A | CA2680812928 | SYNE1 | c.1992+21C>T (n.1992+21C>T) c.25458+21C>T (n.25458+21C>T) c.25314+21C>T (n.25314+21C>T) c.860+21C>T c.1193+21C>T c.1102+21C>T c.1230+21C>T (n.1230+21C>T) c.24243+21C>T (n.24243+21C>T) n.2206+21C>T c.4293+21C>T (n.4293+21C>T) n.9150+21C>T c.3396+21C>T (n.3396+21C>T) n.9042+21C>T n.2072+21C>T n.4480+21C>T n.2295+21C>T c.1923+21C>T (n.1923+21C>T) c.25563+21C>T (n.25563+21C>T) c.25551+21C>T (n.25551+21C>T) c.25542+21C>T (n.25542+21C>T) c.25512+21C>T (n.25512+21C>T) c.25548+21C>T (n.25548+21C>T) c.25494+21C>T (n.25494+21C>T) c.25491+21C>T (n.25491+21C>T) c.25479+21C>T (n.25479+21C>T) c.25422+21C>T (n.25422+21C>T) c.25410+21C>T (n.25410+21C>T) c.25407+21C>T (n.25407+21C>T) c.25404+21C>T (n.25404+21C>T) c.25560+21C>T (n.25560+21C>T) c.25398+21C>T (n.25398+21C>T) c.23838+21C>T (n.23838+21C>T) c.23331+21C>T (n.23331+21C>T) c.18798+21C>T (n.18798+21C>T) c.2064+21C>T (n.2064+21C>T) c.25536+21C>T (n.25536+21C>T) c.25485+21C>T (n.25485+21C>T) c.25338+21C>T (n.25338+21C>T) | gnomAD v4 |
6 | g.152139930G>T | CA2680812929 | SYNE1 | c.1992+20C>A (n.1992+20C>A) c.25458+20C>A (n.25458+20C>A) c.25314+20C>A (n.25314+20C>A) c.860+20C>A c.1193+20C>A c.1102+20C>A c.1230+20C>A (n.1230+20C>A) c.24243+20C>A (n.24243+20C>A) n.2206+20C>A c.4293+20C>A (n.4293+20C>A) n.9150+20C>A c.3396+20C>A (n.3396+20C>A) n.9042+20C>A n.2072+20C>A n.4480+20C>A n.2295+20C>A c.1923+20C>A (n.1923+20C>A) c.25563+20C>A (n.25563+20C>A) c.25551+20C>A (n.25551+20C>A) c.25542+20C>A (n.25542+20C>A) c.25512+20C>A (n.25512+20C>A) c.25548+20C>A (n.25548+20C>A) c.25494+20C>A (n.25494+20C>A) c.25491+20C>A (n.25491+20C>A) c.25479+20C>A (n.25479+20C>A) c.25422+20C>A (n.25422+20C>A) c.25410+20C>A (n.25410+20C>A) c.25407+20C>A (n.25407+20C>A) c.25404+20C>A (n.25404+20C>A) c.25560+20C>A (n.25560+20C>A) c.25398+20C>A (n.25398+20C>A) c.23838+20C>A (n.23838+20C>A) c.23331+20C>A (n.23331+20C>A) c.18798+20C>A (n.18798+20C>A) c.2064+20C>A (n.2064+20C>A) c.25536+20C>A (n.25536+20C>A) c.25485+20C>A (n.25485+20C>A) c.25338+20C>A (n.25338+20C>A) | gnomAD v4 |
6 | g.152139932A>G | CA2680812930 | SYNE1 | c.1992+18T>C (n.1992+18T>C) c.25458+18T>C (n.25458+18T>C) c.25314+18T>C (n.25314+18T>C) c.860+18T>C c.1193+18T>C c.1102+18T>C c.1230+18T>C (n.1230+18T>C) c.24243+18T>C (n.24243+18T>C) n.2206+18T>C c.4293+18T>C (n.4293+18T>C) n.9150+18T>C c.3396+18T>C (n.3396+18T>C) n.9042+18T>C n.2072+18T>C n.4480+18T>C n.2295+18T>C c.1923+18T>C (n.1923+18T>C) c.25563+18T>C (n.25563+18T>C) c.25551+18T>C (n.25551+18T>C) c.25542+18T>C (n.25542+18T>C) c.25512+18T>C (n.25512+18T>C) c.25548+18T>C (n.25548+18T>C) c.25494+18T>C (n.25494+18T>C) c.25491+18T>C (n.25491+18T>C) c.25479+18T>C (n.25479+18T>C) c.25422+18T>C (n.25422+18T>C) c.25410+18T>C (n.25410+18T>C) c.25407+18T>C (n.25407+18T>C) c.25404+18T>C (n.25404+18T>C) c.25560+18T>C (n.25560+18T>C) c.25398+18T>C (n.25398+18T>C) c.23838+18T>C (n.23838+18T>C) c.23331+18T>C (n.23331+18T>C) c.18798+18T>C (n.18798+18T>C) c.2064+18T>C (n.2064+18T>C) c.25536+18T>C (n.25536+18T>C) c.25485+18T>C (n.25485+18T>C) c.25338+18T>C (n.25338+18T>C) | gnomAD v4 |
6 | g.152139933A>G | CA2680812931 | SYNE1 | c.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 |
6 | g.152139934G>A | CA1673206082 | SYNE1 | c.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 |
6 | g.152139934G= | CA1673206081 | SYNE1 | c.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=) | |
6 | g.152139935G>A | CA4052842 | SYNE1 | c.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 |
6 | g.152139935G>C | CA2578773164 | SYNE1 | c.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) | |
6 | g.152139935G= | CA1673206084 | SYNE1 | c.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=) | |
6 | g.152139937A= | CA1673206090 | SYNE1 | c.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=) | |
6 | g.152139937A>C | CA2680812932 | SYNE1 | c.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 |
6 | g.152139937A>G | CA4052843 | SYNE1 | c.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 |
6 | g.152139937_152139953delinsAAGGGGCAGCTACCTTG | CA1673206091 | SYNE1 | c.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 | |
6 | g.152139940_152139955del | CA4052844 | SYNE1 | c.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 |
6 | g.152139939G>A | CA2578773165 | SYNE1 | c.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 |
6 | g.152139940G>A | CA2680812933 | SYNE1 | c.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 |
6 | g.152139943C>A | CA2680812934 | SYNE1 | c.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 |
6 | g.152139943C>T | CA2680812935 | SYNE1 | c.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 |
6 | g.152139945G>A | CA2773583985 | SYNE1 | c.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) | |
6 | g.152139945G>T | CA645564556 | SYNE1 | c.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 |
6 | g.152139945_152139946delinsGC | CA1673206096 | SYNE1 | c.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) | |
6 | g.152139946del | CA1673206098 | SYNE1 | c.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 |
6 | g.152139946C>A | CA2680812936 | SYNE1 | c.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 |
6 | g.152139946C= | CA1673206100 | SYNE1 | c.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=) | |
6 | g.152139946C>T | CA571437346 | SYNE1 | c.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 |
6 | g.152139947T>A | CA645564557 | SYNE1 | c.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 |
6 | g.152139948A>C | CA366079898 | SYNE1 | c.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) | |
6 | g.152139948A>G | CA366079899 | SYNE1 | c.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) | |
6 | g.152139948A>T | CA366079901 | SYNE1 | c.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) | |
6 | g.152139949C>A | CA366079903 | SYNE1 | c.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) | |
6 | g.152139949C>G | CA366079905 | SYNE1 | c.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) | |
6 | g.152139949C>T | CA366079907 | SYNE1 | c.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) | |
6 | g.152139950C>A | CA366079909 | SYNE1 | c.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 |
6 | g.152139950C>G | CA366079910 | SYNE1 | c.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) | |
6 | g.152139950C>T | CA452969794 | SYNE1 | c.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 |
6 | g.152139951T>A | CA366079913 | SYNE1 | c.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) | |
6 | g.152139951T>C | CA366079916 | SYNE1 | c.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 |
6 | g.152139951T>G | CA366079915 | SYNE1 | c.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) | |
6 | g.152139952T>A | CA366079917 | SYNE1 | c.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) | |
6 | g.152139952T>C | CA366079918 | SYNE1 | c.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) | |
6 | g.152139952T>G | CA366079920 | SYNE1 | c.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 |
6 | g.152139953G>A | CA452969797 | SYNE1 | c.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 |
6 | g.152139953G>C | CA452969796 | SYNE1 | c.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 |
6 | g.152139953G>T | CA452969795 | SYNE1 | c.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 |
6 | g.152139954A>C | CA366079922 | SYNE1 | c.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) | |
6 | g.152139954A>G | CA366079924 | SYNE1 | c.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) | |
6 | g.152139954A>T | CA366079925 | SYNE1 | c.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) | |
6 | g.152139955G>A | CA366079928 | SYNE1 | c.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 |
6 | g.152139955G>C | CA366079930 | SYNE1 | c.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) | |
6 | g.152139955G>T | CA366079931 | SYNE1 | c.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) | |
6 | g.152139956C>A | CA366079934 | SYNE1 | c.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) | |
6 | g.152139956C>G | CA366079935 | SYNE1 | c.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) | |
6 | g.152139956C>T | CA452969798 | SYNE1 | c.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=) | |
6 | g.152139957T>A | CA366079941 | SYNE1 | c.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) | |
6 | g.152139957T>C | CA366079940 | SYNE1 | c.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) | |
6 | g.152139957T>G | CA366079938 | SYNE1 | c.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) | |
6 | g.152139958T>A | CA366079942 | SYNE1 | c.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) | |
6 | g.152139958T>C | CA366079944 | SYNE1 | c.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) | |
6 | g.152139958T>G | CA366079946 | SYNE1 | c.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) | |
6 | g.152139959T>A | CA366079948 | SYNE1 | c.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) | |
6 | g.152139959T>C | CA452969799 | SYNE1 | c.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=) | |
6 | g.152139959T>G | CA366079949 | SYNE1 | c.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) | |
6 | g.152139960T>A | CA366079951 | SYNE1 | c.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) | |
6 | g.152139960T>C | CA4052845 | SYNE1 | c.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 |
6 | g.152139960T>G | CA366079953 | SYNE1 | c.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) | |
6 | g.152139960T= | CA1673206103 | SYNE1 | c.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=) | |
6 | g.152139961T>A | CA366079955 | SYNE1 | c.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) | |
6 | g.152139961T>C | CA366079957 | SYNE1 | c.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 |
6 | g.152139961T>G | CA366079959 | SYNE1 | c.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) | |
6 | g.152139961T= | CA1673206109 | SYNE1 | c.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=) | |
6 | g.152139962G>A | CA452969800 | SYNE1 | c.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 |
6 | g.152139962G>C | CA366079960 | SYNE1 | c.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 |
6 | g.152139962G= | CA1673206117 | SYNE1 | c.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=) | |
6 | g.152139962G>T | CA452969801 | SYNE1 | c.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 |
6 | g.152139963A>C | CA366079963 | SYNE1 | c.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) | |
6 | g.152139963A>G | CA366079966 | SYNE1 | c.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) | |
6 | g.152139963A>T | CA366079964 | SYNE1 | c.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) | |
6 | g.152139964T>A | CA366079967 | SYNE1 | c.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) | |
6 | g.152139964T>C | CA366079971 | SYNE1 | c.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 |
6 | g.152139964T>G | CA366079969 | SYNE1 | c.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) | |
6 | g.152139964T= | CA1673206123 | SYNE1 | c.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=) | |
6 | g.152139965C>A | CA366079973 | SYNE1 | c.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 |
6 | g.152139965C= | CA1673206128 | SYNE1 | c.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=) | |
6 | g.152139965C>G | CA10626346 | SYNE1 | c.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 |
6 | g.152139965C>T | CA452969802 | SYNE1 | c.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=) | |
6 | g.152139966T>A | CA366079975 | SYNE1 | c.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) | |
6 | g.152139966T>C | CA4052846 | SYNE1 | c.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 |
6 | g.152139966T>G | CA366079978 | SYNE1 | c.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) | |
6 | g.152139966T= | CA1673206134 | SYNE1 | c.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=) | |
6 | g.152139967G>A | CA366079979 | SYNE1 | c.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) | |
6 | g.152139967G>C | CA366079981 | SYNE1 | c.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) | |
6 | g.152139967G>T | CA366079983 | SYNE1 | c.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) | |
6 | g.152139968G>A | CA452969803 | SYNE1 | c.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=) | |
6 | g.152139968G>C | CA452969804 | SYNE1 | c.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 |
6 | g.152139968G>T | CA452969805 | SYNE1 | c.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=) | |
6 | g.152139969A>C | CA366079985 | SYNE1 | c.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) | |
6 | g.152139969A>G | CA366079986 | SYNE1 | c.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) | |
6 | g.152139969A>T | CA366079988 | SYNE1 | c.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 |
6 | g.152139970G>A | CA366079990 | SYNE1 | c.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 |
6 | g.152139970G>C | CA366079992 | SYNE1 | c.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) | |
6 | g.152139970G>T | CA366079993 | SYNE1 | c.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) | |
6 | g.152139971C>A | CA366079995 | SYNE1 | c.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) | |
6 | g.152139971C>G | CA366079997 | SYNE1 | c.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 |
6 | g.152139971C>T | CA452969806 | SYNE1 | c.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=) | |
6 | g.152139972T>A | CA366079998 | SYNE1 | c.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) | |
6 | g.152139972T>C | CA366080001 | SYNE1 | c.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) | |
6 | g.152139972T>G | CA366080003 | SYNE1 | c.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 |
6 | g.152139973C>A | CA366080004 | SYNE1 | c.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) | |
6 | g.152139973C= | CA1673206141 | SYNE1 | c.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=) | |
6 | g.152139973C>G | CA366080006 | SYNE1 | c.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 |
6 | g.152139973C>T | CA150165450 | SYNE1 | c.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 |
6 | g.152139974G>A | CA4052847 | SYNE1 | c.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 |
6 | g.152139974G>C | CA366080009 | SYNE1 | c.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) | |
6 | g.152139974G= | CA1673206148 | SYNE1 | c.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=) | |
6 | g.152139974G>T | CA452969807 | SYNE1 | c.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=) | |
6 | g.152139975A>C | CA366080011 | SYNE1 | c.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) | |
6 | g.152139975A>G | CA366080012 | SYNE1 | c.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) | |
6 | g.152139975A>T | CA366080014 | SYNE1 | c.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) | |
6 | g.152139976T>A | CA366080017 | SYNE1 | c.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) | |
6 | g.152139976T>C | CA366080018 | SYNE1 | c.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) | |
6 | g.152139976T>G | CA366080015 | SYNE1 | c.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) | |
6 | g.152139977G>A | CA4052848 | SYNE1 | c.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 |
6 | g.152139977G>C | CA452969809 | SYNE1 | c.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 |
6 | g.152139977G= | CA1673206152 | SYNE1 | c.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=) | |
6 | g.152139977G>T | CA452969808 | SYNE1 | c.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=) | |
6 | g.152139978G>A | CA366080020 | SYNE1 | c.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 |
6 | g.152139978G>C | CA366080022 | SYNE1 | c.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) | |
6 | g.152139978G= | CA1673206156 | SYNE1 | c.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=) | |
6 | g.152139978G>T | CA366080024 | SYNE1 | c.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) | |
6 | g.152139979T>A | CA366080026 | SYNE1 | c.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) | |
6 | g.152139979T>C | CA366080027 | SYNE1 | c.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 |
6 | g.152139979T>G | CA366080029 | SYNE1 | c.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) | |
6 | g.152139979T= | CA1673206159 | SYNE1 | c.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=) | |
6 | g.152139980C>A | CA366080030 | SYNE1 | c.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) | |
6 | g.152139980C>G | CA366080031 | SYNE1 | c.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) | |
6 | g.152139980C>T | CA452969810 | SYNE1 | c.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=) | |
6 | g.152139981T>A | CA366080032 | SYNE1 | c.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) | |
6 | g.152139981T>C | CA366080033 | SYNE1 | c.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 |
6 | g.152139981T>G | CA366080035 | SYNE1 | c.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) | |
6 | g.152139981_152139982delinsTG | CA1673206163 | SYNE1 | c.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=) | |
6 | g.152139982G>A | CA366080039 | SYNE1 | c.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) | |
6 | g.152139982G>C | CA366080037 | SYNE1 | c.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) | |
6 | g.152139982G>T | CA366080038 | SYNE1 | c.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 |
6 | g.152139983del | CA571437347 | SYNE1 | c.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 |
6 | g.152139983G>A | CA452969811 | SYNE1 | c.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 |
6 | g.152139983G>C | CA366080041 | SYNE1 | c.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) | |
6 | g.152139983G= | CA1673206170 | SYNE1 | c.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=) | |
6 | g.152139983G>T | CA452969812 | SYNE1 | c.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 |
6 | g.152139984A= | CA1673206176 | SYNE1 | c.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=) | |
6 | g.152139984A>C | CA366080043 | SYNE1 | c.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) | |
6 | g.152139984A>G | CA4052849 | SYNE1 | c.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 |
6 | g.152139984A>T | CA366080045 | SYNE1 | c.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) | |
6 | g.152139985T>A | CA366080048 | SYNE1 | c.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) | |
6 | g.152139985T>C | CA366080050 | SYNE1 | c.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 |
6 | g.152139985T>G | CA366080051 | SYNE1 | c.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) | |
6 | g.152139985T= | CA1673206179 | SYNE1 | c.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=) | |
6 | g.152139986G>A | CA452969813 | SYNE1 | c.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 |
6 | g.152139986G>C | CA4052850 | SYNE1 | c.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 |
6 | g.152139986G= | CA1673206182 | SYNE1 | c.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=) | |
6 | g.152139986G>T | CA366080054 | SYNE1 | c.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) | |
6 | g.152139987T>A | CA366080056 | SYNE1 | c.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 |
6 | g.152139987T>C | CA366080057 | SYNE1 | c.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) | |
6 | g.152139987T>G | CA366080059 | SYNE1 | c.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) | |
6 | g.152139988C>A | CA366080064 | SYNE1 | c.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 |
6 | g.152139988C>G | CA366080063 | SYNE1 | c.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) | |
6 | g.152139988C>T | CA366080061 | SYNE1 | c.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) | |
6 | g.152139989A>C | CA452969814 | SYNE1 | c.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=) | |
6 | g.152139989A>G | CA452969815 | SYNE1 | c.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=) | |
6 | g.152139989A>T | CA452969816 | SYNE1 | c.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=) | |
6 | g.152139990G>A | CA150165509 | SYNE1 | c.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 |
6 | g.152139990G>C | CA366080069 | SYNE1 | c.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) | |
6 | g.152139990G= | CA1673206187 | SYNE1 | c.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=) | |
6 | g.152139990G>T | CA366080067 | SYNE1 | c.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) | |
6 | g.152139991T>A | CA366080070 | SYNE1 | c.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) | |
6 | g.152139991T>C | CA366080072 | SYNE1 | c.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) | |
6 | g.152139991T>G | CA366080074 | SYNE1 | c.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) | |
6 | g.152139992G>A | CA452969817 | SYNE1 | c.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=) | |
6 | g.152139992G>C | CA366080076 | SYNE1 | c.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) | |
6 | g.152139992G>T | CA366080078 | SYNE1 | c.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) | |
6 | g.152139993C>A | CA366080080 | SYNE1 | c.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) | |
6 | g.152139993C= | CA1673206192 | SYNE1 | c.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=) | |
6 | g.152139993C>G | CA366080081 | SYNE1 | c.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) | |
6 | g.152139993C>T | CA366080083 | SYNE1 | c.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 |
6 | g.152139994T>A | CA366080085 | SYNE1 | c.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) | |
6 | g.152139994T>C | CA366080087 | SYNE1 | c.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) | |
6 | g.152139994T>G | CA366080088 | SYNE1 | c.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) | |
6 | g.152139995G>A | CA452969818 | SYNE1 | c.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=) | |
6 | g.152139995G>C | CA452969819 | SYNE1 | c.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=) | |
6 | g.152139995G>T | CA452969820 | SYNE1 | c.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=) | |
6 | g.152139996A>C | CA366080094 | SYNE1 | c.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) | |
6 | g.152139996A>G | CA366080090 | SYNE1 | c.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) | |
6 | g.152139996A>T | CA366080092 | SYNE1 | c.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) | |
6 | g.152139997G>A | CA366080096 | SYNE1 | c.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) | |
6 | g.152139997G>C | CA366080097 | SYNE1 | c.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) | |
6 | g.152139997G>T | CA366080099 | SYNE1 | c.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) | |
6 | g.152139998T>A | CA366080101 | SYNE1 | c.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) | |
6 | g.152139998T>C | CA452969821 | SYNE1 | c.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=) | |
6 | g.152139998T>G | CA366080102 | SYNE1 | c.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) | |
6 | g.152139999T>A | CA366080104 | SYNE1 | c.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) | |
6 | g.152139999T>C | CA366080106 | SYNE1 | c.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 |
6 | g.152139999T>G | CA366080107 | SYNE1 | c.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) | |
6 | g.152139999T= | CA1673206195 | SYNE1 | c.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=) | |
6 | g.152140000C>A | CA366080109 | SYNE1 | c.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 |
6 | g.152140000C>G | CA366080111 | SYNE1 | c.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) | |
6 | g.152140000C>T | CA366080113 | SYNE1 | c.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 |
6 | g.152140001C>A | CA452969825 | SYNE1 | c.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=) | |
6 | g.152140001C= | CA1673206199 | SYNE1 | c.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=) | |
6 | g.152140001C>G | CA452969826 | SYNE1 | c.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=) | |
6 | g.152140001C>T | CA452969827 | SYNE1 | c.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 |
6 | g.152140002A>C | CA366080115 | SYNE1 | c.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) | |
6 | g.152140002A>G | CA366080116 | SYNE1 | c.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) | |
6 | g.152140002A>T | CA366080114 | SYNE1 | c.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) | |
6 | g.152140003G>A | CA452969828 | SYNE1 | c.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 |
6 | g.152140003G>C | CA366080117 | SYNE1 | c.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 |
6 | g.152140003G= | CA1673206204 | SYNE1 | c.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=) | |
6 | g.152140003G>T | CA366080118 | SYNE1 | c.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) | |
6 | g.152140004A= | CA1673206206 | SYNE1 | c.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=) | |
6 | g.152140004A>C | CA452969830 | SYNE1 | c.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=) | |
6 | g.152140004A>G | CA4052851 | SYNE1 | c.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 |
6 | g.152140004A>T | CA452969831 | SYNE1 | c.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=) | |
6 | g.152140005C>A | CA366080121 | SYNE1 | c.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 |
6 | g.152140005C= | CA1673206213 | SYNE1 | c.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=) | |
6 | g.152140005C>G | CA366080122 | SYNE1 | c.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) | |
6 | g.152140005C>T | CA4052852 | SYNE1 | c.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 |