UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152143733G>A | CA277296 | SYNE1 | c.1543C>T (p.Gln515Ter) c.25009C>T (p.Gln8337Ter) c.24865C>T (p.Gln8289Ter) c.411C>T c.744C>T c.891-3572C>T c.781C>T (p.Gln261Ter) c.23794C>T (p.Gln7932Ter) n.1757C>T c.3844C>T (p.Gln1282Ter) n.8701C>T c.2947C>T (p.Gln983Ter) n.8593C>T n.1623C>T n.4031C>T n.1846C>T c.1474C>T (p.Gln492Ter) c.25114C>T (p.Gln8372Ter) c.25102C>T (p.Gln8368Ter) c.25093C>T (p.Gln8365Ter) c.25063C>T (p.Gln8355Ter) c.25099C>T (p.Gln8367Ter) c.25045C>T (p.Gln8349Ter) c.25042C>T (p.Gln8348Ter) c.25030C>T (p.Gln8344Ter) c.24973C>T (p.Gln8325Ter) c.24961C>T (p.Gln8321Ter) c.24958C>T (p.Gln8320Ter) c.24955C>T (p.Gln8319Ter) c.25111C>T (p.Gln8371Ter) c.24949C>T (p.Gln8317Ter) c.23389C>T (p.Gln7797Ter) c.22882C>T (p.Gln7628Ter) c.18349C>T (p.Gln6117Ter) c.1615C>T (p.Gln539Ter) c.25087C>T (p.Gln8363Ter) c.25036C>T (p.Gln8346Ter) c.24889C>T (p.Gln8297Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152143733G>C | CA366083269 | SYNE1 | c.1543C>G (p.Gln515Glu) c.25009C>G (p.Gln8337Glu) c.24865C>G (p.Gln8289Glu) c.411C>G c.744C>G c.891-3572C>G c.781C>G (p.Gln261Glu) c.23794C>G (p.Gln7932Glu) n.1757C>G c.3844C>G (p.Gln1282Glu) n.8701C>G c.2947C>G (p.Gln983Glu) n.8593C>G n.1623C>G n.4031C>G n.1846C>G c.1474C>G (p.Gln492Glu) c.25114C>G (p.Gln8372Glu) c.25102C>G (p.Gln8368Glu) c.25093C>G (p.Gln8365Glu) c.25063C>G (p.Gln8355Glu) c.25099C>G (p.Gln8367Glu) c.25045C>G (p.Gln8349Glu) c.25042C>G (p.Gln8348Glu) c.25030C>G (p.Gln8344Glu) c.24973C>G (p.Gln8325Glu) c.24961C>G (p.Gln8321Glu) c.24958C>G (p.Gln8320Glu) c.24955C>G (p.Gln8319Glu) c.25111C>G (p.Gln8371Glu) c.24949C>G (p.Gln8317Glu) c.23389C>G (p.Gln7797Glu) c.22882C>G (p.Gln7628Glu) c.18349C>G (p.Gln6117Glu) c.1615C>G (p.Gln539Glu) c.25087C>G (p.Gln8363Glu) c.25036C>G (p.Gln8346Glu) c.24889C>G (p.Gln8297Glu) | |
| 6 | g.152143733G= | CA1673209303 | SYNE1 | c.1543C= (p.Gln515=) c.25009C= (p.Gln8337=) c.24865C= (p.Gln8289=) c.411C= c.744C= c.891-3572C= c.781C= (p.Gln261=) c.23794C= (p.Gln7932=) n.1757C= c.3844C= (p.Gln1282=) n.8701C= c.2947C= (p.Gln983=) n.8593C= n.1623C= n.4031C= n.1846C= c.1474C= (p.Gln492=) c.25114C= (p.Gln8372=) c.25102C= (p.Gln8368=) c.25093C= (p.Gln8365=) c.25063C= (p.Gln8355=) c.25099C= (p.Gln8367=) c.25045C= (p.Gln8349=) c.25042C= (p.Gln8348=) c.25030C= (p.Gln8344=) c.24973C= (p.Gln8325=) c.24961C= (p.Gln8321=) c.24958C= (p.Gln8320=) c.24955C= (p.Gln8319=) c.25111C= (p.Gln8371=) c.24949C= (p.Gln8317=) c.23389C= (p.Gln7797=) c.22882C= (p.Gln7628=) c.18349C= (p.Gln6117=) c.1615C= (p.Gln539=) c.25087C= (p.Gln8363=) c.25036C= (p.Gln8346=) c.24889C= (p.Gln8297=) | |
| 6 | g.152143733G>T | CA366083271 | SYNE1 | c.1543C>A (p.Gln515Lys) c.25009C>A (p.Gln8337Lys) c.24865C>A (p.Gln8289Lys) c.411C>A c.744C>A c.891-3572C>A c.781C>A (p.Gln261Lys) c.23794C>A (p.Gln7932Lys) n.1757C>A c.3844C>A (p.Gln1282Lys) n.8701C>A c.2947C>A (p.Gln983Lys) n.8593C>A n.1623C>A n.4031C>A n.1846C>A c.1474C>A (p.Gln492Lys) c.25114C>A (p.Gln8372Lys) c.25102C>A (p.Gln8368Lys) c.25093C>A (p.Gln8365Lys) c.25063C>A (p.Gln8355Lys) c.25099C>A (p.Gln8367Lys) c.25045C>A (p.Gln8349Lys) c.25042C>A (p.Gln8348Lys) c.25030C>A (p.Gln8344Lys) c.24973C>A (p.Gln8325Lys) c.24961C>A (p.Gln8321Lys) c.24958C>A (p.Gln8320Lys) c.24955C>A (p.Gln8319Lys) c.25111C>A (p.Gln8371Lys) c.24949C>A (p.Gln8317Lys) c.23389C>A (p.Gln7797Lys) c.22882C>A (p.Gln7628Lys) c.18349C>A (p.Gln6117Lys) c.1615C>A (p.Gln539Lys) c.25087C>A (p.Gln8363Lys) c.25036C>A (p.Gln8346Lys) c.24889C>A (p.Gln8297Lys) | |
| 6 | g.152143734T>A | CA452747267 | SYNE1 | c.1542A>T (p.Arg514=) c.25008A>T (p.Arg8336=) c.24864A>T (p.Arg8288=) c.410A>T c.743A>T c.891-3573A>T c.780A>T (p.Arg260=) c.23793A>T (p.Arg7931=) n.1756A>T c.3843A>T (p.Arg1281=) n.8700A>T c.2946A>T (p.Arg982=) n.8592A>T n.1622A>T n.4030A>T n.1845A>T c.1473A>T (p.Arg491=) c.25113A>T (p.Arg8371=) c.25101A>T (p.Arg8367=) c.25092A>T (p.Arg8364=) c.25062A>T (p.Arg8354=) c.25098A>T (p.Arg8366=) c.25044A>T (p.Arg8348=) c.25041A>T (p.Arg8347=) c.25029A>T (p.Arg8343=) c.24972A>T (p.Arg8324=) c.24960A>T (p.Arg8320=) c.24957A>T (p.Arg8319=) c.24954A>T (p.Arg8318=) c.25110A>T (p.Arg8370=) c.24948A>T (p.Arg8316=) c.23388A>T (p.Arg7796=) c.22881A>T (p.Arg7627=) c.18348A>T (p.Arg6116=) c.1614A>T (p.Arg538=) c.25086A>T (p.Arg8362=) c.25035A>T (p.Arg8345=) c.24888A>T (p.Arg8296=) | |
| 6 | g.152143734T>C | CA452747266 | SYNE1 | c.1542A>G (p.Arg514=) c.25008A>G (p.Arg8336=) c.24864A>G (p.Arg8288=) c.410A>G c.743A>G c.891-3573A>G c.780A>G (p.Arg260=) c.23793A>G (p.Arg7931=) n.1756A>G c.3843A>G (p.Arg1281=) n.8700A>G c.2946A>G (p.Arg982=) n.8592A>G n.1622A>G n.4030A>G n.1845A>G c.1473A>G (p.Arg491=) c.25113A>G (p.Arg8371=) c.25101A>G (p.Arg8367=) c.25092A>G (p.Arg8364=) c.25062A>G (p.Arg8354=) c.25098A>G (p.Arg8366=) c.25044A>G (p.Arg8348=) c.25041A>G (p.Arg8347=) c.25029A>G (p.Arg8343=) c.24972A>G (p.Arg8324=) c.24960A>G (p.Arg8320=) c.24957A>G (p.Arg8319=) c.24954A>G (p.Arg8318=) c.25110A>G (p.Arg8370=) c.24948A>G (p.Arg8316=) c.23388A>G (p.Arg7796=) c.22881A>G (p.Arg7627=) c.18348A>G (p.Arg6116=) c.1614A>G (p.Arg538=) c.25086A>G (p.Arg8362=) c.25035A>G (p.Arg8345=) c.24888A>G (p.Arg8296=) | |
| 6 | g.152143734T>G | CA452747265 | SYNE1 | c.1542A>C (p.Arg514=) c.25008A>C (p.Arg8336=) c.24864A>C (p.Arg8288=) c.410A>C c.743A>C c.891-3573A>C c.780A>C (p.Arg260=) c.23793A>C (p.Arg7931=) n.1756A>C c.3843A>C (p.Arg1281=) n.8700A>C c.2946A>C (p.Arg982=) n.8592A>C n.1622A>C n.4030A>C n.1845A>C c.1473A>C (p.Arg491=) c.25113A>C (p.Arg8371=) c.25101A>C (p.Arg8367=) c.25092A>C (p.Arg8364=) c.25062A>C (p.Arg8354=) c.25098A>C (p.Arg8366=) c.25044A>C (p.Arg8348=) c.25041A>C (p.Arg8347=) c.25029A>C (p.Arg8343=) c.24972A>C (p.Arg8324=) c.24960A>C (p.Arg8320=) c.24957A>C (p.Arg8319=) c.24954A>C (p.Arg8318=) c.25110A>C (p.Arg8370=) c.24948A>C (p.Arg8316=) c.23388A>C (p.Arg7796=) c.22881A>C (p.Arg7627=) c.18348A>C (p.Arg6116=) c.1614A>C (p.Arg538=) c.25086A>C (p.Arg8362=) c.25035A>C (p.Arg8345=) c.24888A>C (p.Arg8296=) | |
| 6 | g.152143735C>A | CA366083272 | SYNE1 | c.1541G>T (p.Arg514Leu) c.25007G>T (p.Arg8336Leu) c.24863G>T (p.Arg8288Leu) c.409G>T c.742G>T c.891-3574G>T c.779G>T (p.Arg260Leu) c.23792G>T (p.Arg7931Leu) n.1755G>T c.3842G>T (p.Arg1281Leu) n.8699G>T c.2945G>T (p.Arg982Leu) n.8591G>T n.1621G>T n.4029G>T n.1844G>T c.1472G>T (p.Arg491Leu) c.25112G>T (p.Arg8371Leu) c.25100G>T (p.Arg8367Leu) c.25091G>T (p.Arg8364Leu) c.25061G>T (p.Arg8354Leu) c.25097G>T (p.Arg8366Leu) c.25043G>T (p.Arg8348Leu) c.25040G>T (p.Arg8347Leu) c.25028G>T (p.Arg8343Leu) c.24971G>T (p.Arg8324Leu) c.24959G>T (p.Arg8320Leu) c.24956G>T (p.Arg8319Leu) c.24953G>T (p.Arg8318Leu) c.25109G>T (p.Arg8370Leu) c.24947G>T (p.Arg8316Leu) c.23387G>T (p.Arg7796Leu) c.22880G>T (p.Arg7627Leu) c.18347G>T (p.Arg6116Leu) c.1613G>T (p.Arg538Leu) c.25085G>T (p.Arg8362Leu) c.25034G>T (p.Arg8345Leu) c.24887G>T (p.Arg8296Leu) | gnomAD v4 |
| 6 | g.152143735C= | CA1673209304 | SYNE1 | c.1541G= (p.Arg514=) c.25007G= (p.Arg8336=) c.24863G= (p.Arg8288=) c.409G= c.742G= c.891-3574G= c.779G= (p.Arg260=) c.23792G= (p.Arg7931=) n.1755G= c.3842G= (p.Arg1281=) n.8699G= c.2945G= (p.Arg982=) n.8591G= n.1621G= n.4029G= n.1844G= c.1472G= (p.Arg491=) c.25112G= (p.Arg8371=) c.25100G= (p.Arg8367=) c.25091G= (p.Arg8364=) c.25061G= (p.Arg8354=) c.25097G= (p.Arg8366=) c.25043G= (p.Arg8348=) c.25040G= (p.Arg8347=) c.25028G= (p.Arg8343=) c.24971G= (p.Arg8324=) c.24959G= (p.Arg8320=) c.24956G= (p.Arg8319=) c.24953G= (p.Arg8318=) c.25109G= (p.Arg8370=) c.24947G= (p.Arg8316=) c.23387G= (p.Arg7796=) c.22880G= (p.Arg7627=) c.18347G= (p.Arg6116=) c.1613G= (p.Arg538=) c.25085G= (p.Arg8362=) c.25034G= (p.Arg8345=) c.24887G= (p.Arg8296=) | |
| 6 | g.152143735C>G | CA366083273 | SYNE1 | c.1541G>C (p.Arg514Pro) c.25007G>C (p.Arg8336Pro) c.24863G>C (p.Arg8288Pro) c.409G>C c.742G>C c.891-3574G>C c.779G>C (p.Arg260Pro) c.23792G>C (p.Arg7931Pro) n.1755G>C c.3842G>C (p.Arg1281Pro) n.8699G>C c.2945G>C (p.Arg982Pro) n.8591G>C n.1621G>C n.4029G>C n.1844G>C c.1472G>C (p.Arg491Pro) c.25112G>C (p.Arg8371Pro) c.25100G>C (p.Arg8367Pro) c.25091G>C (p.Arg8364Pro) c.25061G>C (p.Arg8354Pro) c.25097G>C (p.Arg8366Pro) c.25043G>C (p.Arg8348Pro) c.25040G>C (p.Arg8347Pro) c.25028G>C (p.Arg8343Pro) c.24971G>C (p.Arg8324Pro) c.24959G>C (p.Arg8320Pro) c.24956G>C (p.Arg8319Pro) c.24953G>C (p.Arg8318Pro) c.25109G>C (p.Arg8370Pro) c.24947G>C (p.Arg8316Pro) c.23387G>C (p.Arg7796Pro) c.22880G>C (p.Arg7627Pro) c.18347G>C (p.Arg6116Pro) c.1613G>C (p.Arg538Pro) c.25085G>C (p.Arg8362Pro) c.25034G>C (p.Arg8345Pro) c.24887G>C (p.Arg8296Pro) | |
| 6 | g.152143735C>T | CA4052976 | SYNE1 | c.1541G>A (p.Arg514Gln) c.25007G>A (p.Arg8336Gln) c.24863G>A (p.Arg8288Gln) c.409G>A c.742G>A c.891-3574G>A c.779G>A (p.Arg260Gln) c.23792G>A (p.Arg7931Gln) n.1755G>A c.3842G>A (p.Arg1281Gln) n.8699G>A c.2945G>A (p.Arg982Gln) n.8591G>A n.1621G>A n.4029G>A n.1844G>A c.1472G>A (p.Arg491Gln) c.25112G>A (p.Arg8371Gln) c.25100G>A (p.Arg8367Gln) c.25091G>A (p.Arg8364Gln) c.25061G>A (p.Arg8354Gln) c.25097G>A (p.Arg8366Gln) c.25043G>A (p.Arg8348Gln) c.25040G>A (p.Arg8347Gln) c.25028G>A (p.Arg8343Gln) c.24971G>A (p.Arg8324Gln) c.24959G>A (p.Arg8320Gln) c.24956G>A (p.Arg8319Gln) c.24953G>A (p.Arg8318Gln) c.25109G>A (p.Arg8370Gln) c.24947G>A (p.Arg8316Gln) c.23387G>A (p.Arg7796Gln) c.22880G>A (p.Arg7627Gln) c.18347G>A (p.Arg6116Gln) c.1613G>A (p.Arg538Gln) c.25085G>A (p.Arg8362Gln) c.25034G>A (p.Arg8345Gln) c.24887G>A (p.Arg8296Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152143736G>A | CA4052977 | SYNE1 | c.1540C>T (p.Arg514Ter) c.25006C>T (p.Arg8336Ter) c.24862C>T (p.Arg8288Ter) c.408C>T c.741C>T c.891-3575C>T c.778C>T (p.Arg260Ter) c.23791C>T (p.Arg7931Ter) n.1754C>T c.3841C>T (p.Arg1281Ter) n.8698C>T c.2944C>T (p.Arg982Ter) n.8590C>T n.1620C>T n.4028C>T n.1843C>T c.1471C>T (p.Arg491Ter) c.25111C>T (p.Arg8371Ter) c.25099C>T (p.Arg8367Ter) c.25090C>T (p.Arg8364Ter) c.25060C>T (p.Arg8354Ter) c.25096C>T (p.Arg8366Ter) c.25042C>T (p.Arg8348Ter) c.25039C>T (p.Arg8347Ter) c.25027C>T (p.Arg8343Ter) c.24970C>T (p.Arg8324Ter) c.24958C>T (p.Arg8320Ter) c.24955C>T (p.Arg8319Ter) c.24952C>T (p.Arg8318Ter) c.25108C>T (p.Arg8370Ter) c.24946C>T (p.Arg8316Ter) c.23386C>T (p.Arg7796Ter) c.22879C>T (p.Arg7627Ter) c.18346C>T (p.Arg6116Ter) c.1612C>T (p.Arg538Ter) c.25084C>T (p.Arg8362Ter) c.25033C>T (p.Arg8345Ter) c.24886C>T (p.Arg8296Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152143736G>C | CA366083274 | SYNE1 | c.1540C>G (p.Arg514Gly) c.25006C>G (p.Arg8336Gly) c.24862C>G (p.Arg8288Gly) c.408C>G c.741C>G c.891-3575C>G c.778C>G (p.Arg260Gly) c.23791C>G (p.Arg7931Gly) n.1754C>G c.3841C>G (p.Arg1281Gly) n.8698C>G c.2944C>G (p.Arg982Gly) n.8590C>G n.1620C>G n.4028C>G n.1843C>G c.1471C>G (p.Arg491Gly) c.25111C>G (p.Arg8371Gly) c.25099C>G (p.Arg8367Gly) c.25090C>G (p.Arg8364Gly) c.25060C>G (p.Arg8354Gly) c.25096C>G (p.Arg8366Gly) c.25042C>G (p.Arg8348Gly) c.25039C>G (p.Arg8347Gly) c.25027C>G (p.Arg8343Gly) c.24970C>G (p.Arg8324Gly) c.24958C>G (p.Arg8320Gly) c.24955C>G (p.Arg8319Gly) c.24952C>G (p.Arg8318Gly) c.25108C>G (p.Arg8370Gly) c.24946C>G (p.Arg8316Gly) c.23386C>G (p.Arg7796Gly) c.22879C>G (p.Arg7627Gly) c.18346C>G (p.Arg6116Gly) c.1612C>G (p.Arg538Gly) c.25084C>G (p.Arg8362Gly) c.25033C>G (p.Arg8345Gly) c.24886C>G (p.Arg8296Gly) | gnomAD v4 |
| 6 | g.152143736G= | CA1673209305 | SYNE1 | c.1540C= (p.Arg514=) c.25006C= (p.Arg8336=) c.24862C= (p.Arg8288=) c.408C= c.741C= c.891-3575C= c.778C= (p.Arg260=) c.23791C= (p.Arg7931=) n.1754C= c.3841C= (p.Arg1281=) n.8698C= c.2944C= (p.Arg982=) n.8590C= n.1620C= n.4028C= n.1843C= c.1471C= (p.Arg491=) c.25111C= (p.Arg8371=) c.25099C= (p.Arg8367=) c.25090C= (p.Arg8364=) c.25060C= (p.Arg8354=) c.25096C= (p.Arg8366=) c.25042C= (p.Arg8348=) c.25039C= (p.Arg8347=) c.25027C= (p.Arg8343=) c.24970C= (p.Arg8324=) c.24958C= (p.Arg8320=) c.24955C= (p.Arg8319=) c.24952C= (p.Arg8318=) c.25108C= (p.Arg8370=) c.24946C= (p.Arg8316=) c.23386C= (p.Arg7796=) c.22879C= (p.Arg7627=) c.18346C= (p.Arg6116=) c.1612C= (p.Arg538=) c.25084C= (p.Arg8362=) c.25033C= (p.Arg8345=) c.24886C= (p.Arg8296=) | |
| 6 | g.152143736G>T | CA452747268 | SYNE1 | c.1540C>A (p.Arg514=) c.25006C>A (p.Arg8336=) c.24862C>A (p.Arg8288=) c.408C>A c.741C>A c.891-3575C>A c.778C>A (p.Arg260=) c.23791C>A (p.Arg7931=) n.1754C>A c.3841C>A (p.Arg1281=) n.8698C>A c.2944C>A (p.Arg982=) n.8590C>A n.1620C>A n.4028C>A n.1843C>A c.1471C>A (p.Arg491=) c.25111C>A (p.Arg8371=) c.25099C>A (p.Arg8367=) c.25090C>A (p.Arg8364=) c.25060C>A (p.Arg8354=) c.25096C>A (p.Arg8366=) c.25042C>A (p.Arg8348=) c.25039C>A (p.Arg8347=) c.25027C>A (p.Arg8343=) c.24970C>A (p.Arg8324=) c.24958C>A (p.Arg8320=) c.24955C>A (p.Arg8319=) c.24952C>A (p.Arg8318=) c.25108C>A (p.Arg8370=) c.24946C>A (p.Arg8316=) c.23386C>A (p.Arg7796=) c.22879C>A (p.Arg7627=) c.18346C>A (p.Arg6116=) c.1612C>A (p.Arg538=) c.25084C>A (p.Arg8362=) c.25033C>A (p.Arg8345=) c.24886C>A (p.Arg8296=) | |
| 6 | g.152143737G>A | CA452747269 | SYNE1 | c.1539C>T (p.Ile513=) c.25005C>T (p.Ile8335=) c.24861C>T (p.Ile8287=) c.407C>T c.740C>T c.891-3576C>T c.777C>T (p.Ile259=) c.23790C>T (p.Ile7930=) n.1753C>T c.3840C>T (p.Ile1280=) n.8697C>T c.2943C>T (p.Ile981=) n.8589C>T n.1619C>T n.4027C>T n.1842C>T c.1470C>T (p.Ile490=) c.25110C>T (p.Ile8370=) c.25098C>T (p.Ile8366=) c.25089C>T (p.Ile8363=) c.25059C>T (p.Ile8353=) c.25095C>T (p.Ile8365=) c.25041C>T (p.Ile8347=) c.25038C>T (p.Ile8346=) c.25026C>T (p.Ile8342=) c.24969C>T (p.Ile8323=) c.24957C>T (p.Ile8319=) c.24954C>T (p.Ile8318=) c.24951C>T (p.Ile8317=) c.25107C>T (p.Ile8369=) c.24945C>T (p.Ile8315=) c.23385C>T (p.Ile7795=) c.22878C>T (p.Ile7626=) c.18345C>T (p.Ile6115=) c.1611C>T (p.Ile537=) c.25083C>T (p.Ile8361=) c.25032C>T (p.Ile8344=) c.24885C>T (p.Ile8295=) | gnomAD v4 |
| 6 | g.152143737G>C | CA366083275 | SYNE1 | c.1539C>G (p.Ile513Met) c.25005C>G (p.Ile8335Met) c.24861C>G (p.Ile8287Met) c.407C>G c.740C>G c.891-3576C>G c.777C>G (p.Ile259Met) c.23790C>G (p.Ile7930Met) n.1753C>G c.3840C>G (p.Ile1280Met) n.8697C>G c.2943C>G (p.Ile981Met) n.8589C>G n.1619C>G n.4027C>G n.1842C>G c.1470C>G (p.Ile490Met) c.25110C>G (p.Ile8370Met) c.25098C>G (p.Ile8366Met) c.25089C>G (p.Ile8363Met) c.25059C>G (p.Ile8353Met) c.25095C>G (p.Ile8365Met) c.25041C>G (p.Ile8347Met) c.25038C>G (p.Ile8346Met) c.25026C>G (p.Ile8342Met) c.24969C>G (p.Ile8323Met) c.24957C>G (p.Ile8319Met) c.24954C>G (p.Ile8318Met) c.24951C>G (p.Ile8317Met) c.25107C>G (p.Ile8369Met) c.24945C>G (p.Ile8315Met) c.23385C>G (p.Ile7795Met) c.22878C>G (p.Ile7626Met) c.18345C>G (p.Ile6115Met) c.1611C>G (p.Ile537Met) c.25083C>G (p.Ile8361Met) c.25032C>G (p.Ile8344Met) c.24885C>G (p.Ile8295Met) | |
| 6 | g.152143737G>T | CA452747270 | SYNE1 | c.1539C>A (p.Ile513=) c.25005C>A (p.Ile8335=) c.24861C>A (p.Ile8287=) c.407C>A c.740C>A c.891-3576C>A c.777C>A (p.Ile259=) c.23790C>A (p.Ile7930=) n.1753C>A c.3840C>A (p.Ile1280=) n.8697C>A c.2943C>A (p.Ile981=) n.8589C>A n.1619C>A n.4027C>A n.1842C>A c.1470C>A (p.Ile490=) c.25110C>A (p.Ile8370=) c.25098C>A (p.Ile8366=) c.25089C>A (p.Ile8363=) c.25059C>A (p.Ile8353=) c.25095C>A (p.Ile8365=) c.25041C>A (p.Ile8347=) c.25038C>A (p.Ile8346=) c.25026C>A (p.Ile8342=) c.24969C>A (p.Ile8323=) c.24957C>A (p.Ile8319=) c.24954C>A (p.Ile8318=) c.24951C>A (p.Ile8317=) c.25107C>A (p.Ile8369=) c.24945C>A (p.Ile8315=) c.23385C>A (p.Ile7795=) c.22878C>A (p.Ile7626=) c.18345C>A (p.Ile6115=) c.1611C>A (p.Ile537=) c.25083C>A (p.Ile8361=) c.25032C>A (p.Ile8344=) c.24885C>A (p.Ile8295=) | |
| 6 | g.152143738A>C | CA366083280 | SYNE1 | c.1538T>G (p.Ile513Ser) c.25004T>G (p.Ile8335Ser) c.24860T>G (p.Ile8287Ser) c.406T>G c.739T>G c.891-3577T>G c.776T>G (p.Ile259Ser) c.23789T>G (p.Ile7930Ser) n.1752T>G c.3839T>G (p.Ile1280Ser) n.8696T>G c.2942T>G (p.Ile981Ser) n.8588T>G n.1618T>G n.4026T>G n.1841T>G c.1469T>G (p.Ile490Ser) c.25109T>G (p.Ile8370Ser) c.25097T>G (p.Ile8366Ser) c.25088T>G (p.Ile8363Ser) c.25058T>G (p.Ile8353Ser) c.25094T>G (p.Ile8365Ser) c.25040T>G (p.Ile8347Ser) c.25037T>G (p.Ile8346Ser) c.25025T>G (p.Ile8342Ser) c.24968T>G (p.Ile8323Ser) c.24956T>G (p.Ile8319Ser) c.24953T>G (p.Ile8318Ser) c.24950T>G (p.Ile8317Ser) c.25106T>G (p.Ile8369Ser) c.24944T>G (p.Ile8315Ser) c.23384T>G (p.Ile7795Ser) c.22877T>G (p.Ile7626Ser) c.18344T>G (p.Ile6115Ser) c.1610T>G (p.Ile537Ser) c.25082T>G (p.Ile8361Ser) c.25031T>G (p.Ile8344Ser) c.24884T>G (p.Ile8295Ser) | |
| 6 | g.152143738A>G | CA366083276 | SYNE1 | c.1538T>C (p.Ile513Thr) c.25004T>C (p.Ile8335Thr) c.24860T>C (p.Ile8287Thr) c.406T>C c.739T>C c.891-3577T>C c.776T>C (p.Ile259Thr) c.23789T>C (p.Ile7930Thr) n.1752T>C c.3839T>C (p.Ile1280Thr) n.8696T>C c.2942T>C (p.Ile981Thr) n.8588T>C n.1618T>C n.4026T>C n.1841T>C c.1469T>C (p.Ile490Thr) c.25109T>C (p.Ile8370Thr) c.25097T>C (p.Ile8366Thr) c.25088T>C (p.Ile8363Thr) c.25058T>C (p.Ile8353Thr) c.25094T>C (p.Ile8365Thr) c.25040T>C (p.Ile8347Thr) c.25037T>C (p.Ile8346Thr) c.25025T>C (p.Ile8342Thr) c.24968T>C (p.Ile8323Thr) c.24956T>C (p.Ile8319Thr) c.24953T>C (p.Ile8318Thr) c.24950T>C (p.Ile8317Thr) c.25106T>C (p.Ile8369Thr) c.24944T>C (p.Ile8315Thr) c.23384T>C (p.Ile7795Thr) c.22877T>C (p.Ile7626Thr) c.18344T>C (p.Ile6115Thr) c.1610T>C (p.Ile537Thr) c.25082T>C (p.Ile8361Thr) c.25031T>C (p.Ile8344Thr) c.24884T>C (p.Ile8295Thr) | |
| 6 | g.152143738A>T | CA366083277 | SYNE1 | c.1538T>A (p.Ile513Asn) c.25004T>A (p.Ile8335Asn) c.24860T>A (p.Ile8287Asn) c.406T>A c.739T>A c.891-3577T>A c.776T>A (p.Ile259Asn) c.23789T>A (p.Ile7930Asn) n.1752T>A c.3839T>A (p.Ile1280Asn) n.8696T>A c.2942T>A (p.Ile981Asn) n.8588T>A n.1618T>A n.4026T>A n.1841T>A c.1469T>A (p.Ile490Asn) c.25109T>A (p.Ile8370Asn) c.25097T>A (p.Ile8366Asn) c.25088T>A (p.Ile8363Asn) c.25058T>A (p.Ile8353Asn) c.25094T>A (p.Ile8365Asn) c.25040T>A (p.Ile8347Asn) c.25037T>A (p.Ile8346Asn) c.25025T>A (p.Ile8342Asn) c.24968T>A (p.Ile8323Asn) c.24956T>A (p.Ile8319Asn) c.24953T>A (p.Ile8318Asn) c.24950T>A (p.Ile8317Asn) c.25106T>A (p.Ile8369Asn) c.24944T>A (p.Ile8315Asn) c.23384T>A (p.Ile7795Asn) c.22877T>A (p.Ile7626Asn) c.18344T>A (p.Ile6115Asn) c.1610T>A (p.Ile537Asn) c.25082T>A (p.Ile8361Asn) c.25031T>A (p.Ile8344Asn) c.24884T>A (p.Ile8295Asn) | |
| 6 | g.152143739T>A | CA366083281 | SYNE1 | c.1537A>T (p.Ile513Phe) c.25003A>T (p.Ile8335Phe) c.24859A>T (p.Ile8287Phe) c.405A>T c.738A>T c.891-3578A>T c.775A>T (p.Ile259Phe) c.23788A>T (p.Ile7930Phe) n.1751A>T c.3838A>T (p.Ile1280Phe) n.8695A>T c.2941A>T (p.Ile981Phe) n.8587A>T n.1617A>T n.4025A>T n.1840A>T c.1468A>T (p.Ile490Phe) c.25108A>T (p.Ile8370Phe) c.25096A>T (p.Ile8366Phe) c.25087A>T (p.Ile8363Phe) c.25057A>T (p.Ile8353Phe) c.25093A>T (p.Ile8365Phe) c.25039A>T (p.Ile8347Phe) c.25036A>T (p.Ile8346Phe) c.25024A>T (p.Ile8342Phe) c.24967A>T (p.Ile8323Phe) c.24955A>T (p.Ile8319Phe) c.24952A>T (p.Ile8318Phe) c.24949A>T (p.Ile8317Phe) c.25105A>T (p.Ile8369Phe) c.24943A>T (p.Ile8315Phe) c.23383A>T (p.Ile7795Phe) c.22876A>T (p.Ile7626Phe) c.18343A>T (p.Ile6115Phe) c.1609A>T (p.Ile537Phe) c.25081A>T (p.Ile8361Phe) c.25030A>T (p.Ile8344Phe) c.24883A>T (p.Ile8295Phe) | |
| 6 | g.152143739T>C | CA366083282 | SYNE1 | c.1537A>G (p.Ile513Val) c.25003A>G (p.Ile8335Val) c.24859A>G (p.Ile8287Val) c.405A>G c.738A>G c.891-3578A>G c.775A>G (p.Ile259Val) c.23788A>G (p.Ile7930Val) n.1751A>G c.3838A>G (p.Ile1280Val) n.8695A>G c.2941A>G (p.Ile981Val) n.8587A>G n.1617A>G n.4025A>G n.1840A>G c.1468A>G (p.Ile490Val) c.25108A>G (p.Ile8370Val) c.25096A>G (p.Ile8366Val) c.25087A>G (p.Ile8363Val) c.25057A>G (p.Ile8353Val) c.25093A>G (p.Ile8365Val) c.25039A>G (p.Ile8347Val) c.25036A>G (p.Ile8346Val) c.25024A>G (p.Ile8342Val) c.24967A>G (p.Ile8323Val) c.24955A>G (p.Ile8319Val) c.24952A>G (p.Ile8318Val) c.24949A>G (p.Ile8317Val) c.25105A>G (p.Ile8369Val) c.24943A>G (p.Ile8315Val) c.23383A>G (p.Ile7795Val) c.22876A>G (p.Ile7626Val) c.18343A>G (p.Ile6115Val) c.1609A>G (p.Ile537Val) c.25081A>G (p.Ile8361Val) c.25030A>G (p.Ile8344Val) c.24883A>G (p.Ile8295Val) | |
| 6 | g.152143739T>G | CA366083284 | SYNE1 | c.1537A>C (p.Ile513Leu) c.25003A>C (p.Ile8335Leu) c.24859A>C (p.Ile8287Leu) c.405A>C c.738A>C c.891-3578A>C c.775A>C (p.Ile259Leu) c.23788A>C (p.Ile7930Leu) n.1751A>C c.3838A>C (p.Ile1280Leu) n.8695A>C c.2941A>C (p.Ile981Leu) n.8587A>C n.1617A>C n.4025A>C n.1840A>C c.1468A>C (p.Ile490Leu) c.25108A>C (p.Ile8370Leu) c.25096A>C (p.Ile8366Leu) c.25087A>C (p.Ile8363Leu) c.25057A>C (p.Ile8353Leu) c.25093A>C (p.Ile8365Leu) c.25039A>C (p.Ile8347Leu) c.25036A>C (p.Ile8346Leu) c.25024A>C (p.Ile8342Leu) c.24967A>C (p.Ile8323Leu) c.24955A>C (p.Ile8319Leu) c.24952A>C (p.Ile8318Leu) c.24949A>C (p.Ile8317Leu) c.25105A>C (p.Ile8369Leu) c.24943A>C (p.Ile8315Leu) c.23383A>C (p.Ile7795Leu) c.22876A>C (p.Ile7626Leu) c.18343A>C (p.Ile6115Leu) c.1609A>C (p.Ile537Leu) c.25081A>C (p.Ile8361Leu) c.25030A>C (p.Ile8344Leu) c.24883A>C (p.Ile8295Leu) | |
| 6 | g.152143740C>A | CA366083285 | SYNE1 | c.1536G>T (p.Gln512His) c.25002G>T (p.Gln8334His) c.24858G>T (p.Gln8286His) c.404G>T c.737G>T c.891-3579G>T c.774G>T (p.Gln258His) c.23787G>T (p.Gln7929His) n.1750G>T c.3837G>T (p.Gln1279His) n.8694G>T c.2940G>T (p.Gln980His) n.8586G>T n.1616G>T n.4024G>T n.1839G>T c.1467G>T (p.Gln489His) c.25107G>T (p.Gln8369His) c.25095G>T (p.Gln8365His) c.25086G>T (p.Gln8362His) c.25056G>T (p.Gln8352His) c.25092G>T (p.Gln8364His) c.25038G>T (p.Gln8346His) c.25035G>T (p.Gln8345His) c.25023G>T (p.Gln8341His) c.24966G>T (p.Gln8322His) c.24954G>T (p.Gln8318His) c.24951G>T (p.Gln8317His) c.24948G>T (p.Gln8316His) c.25104G>T (p.Gln8368His) c.24942G>T (p.Gln8314His) c.23382G>T (p.Gln7794His) c.22875G>T (p.Gln7625His) c.18342G>T (p.Gln6114His) c.1608G>T (p.Gln536His) c.25080G>T (p.Gln8360His) c.25029G>T (p.Gln8343His) c.24882G>T (p.Gln8294His) | |
| 6 | g.152143740C>G | CA366083287 | SYNE1 | c.1536G>C (p.Gln512His) c.25002G>C (p.Gln8334His) c.24858G>C (p.Gln8286His) c.404G>C c.737G>C c.891-3579G>C c.774G>C (p.Gln258His) c.23787G>C (p.Gln7929His) n.1750G>C c.3837G>C (p.Gln1279His) n.8694G>C c.2940G>C (p.Gln980His) n.8586G>C n.1616G>C n.4024G>C n.1839G>C c.1467G>C (p.Gln489His) c.25107G>C (p.Gln8369His) c.25095G>C (p.Gln8365His) c.25086G>C (p.Gln8362His) c.25056G>C (p.Gln8352His) c.25092G>C (p.Gln8364His) c.25038G>C (p.Gln8346His) c.25035G>C (p.Gln8345His) c.25023G>C (p.Gln8341His) c.24966G>C (p.Gln8322His) c.24954G>C (p.Gln8318His) c.24951G>C (p.Gln8317His) c.24948G>C (p.Gln8316His) c.25104G>C (p.Gln8368His) c.24942G>C (p.Gln8314His) c.23382G>C (p.Gln7794His) c.22875G>C (p.Gln7625His) c.18342G>C (p.Gln6114His) c.1608G>C (p.Gln536His) c.25080G>C (p.Gln8360His) c.25029G>C (p.Gln8343His) c.24882G>C (p.Gln8294His) | |
| 6 | g.152143740C>T | CA452747271 | SYNE1 | c.1536G>A (p.Gln512=) c.25002G>A (p.Gln8334=) c.24858G>A (p.Gln8286=) c.404G>A c.737G>A c.891-3579G>A c.774G>A (p.Gln258=) c.23787G>A (p.Gln7929=) n.1750G>A c.3837G>A (p.Gln1279=) n.8694G>A c.2940G>A (p.Gln980=) n.8586G>A n.1616G>A n.4024G>A n.1839G>A c.1467G>A (p.Gln489=) c.25107G>A (p.Gln8369=) c.25095G>A (p.Gln8365=) c.25086G>A (p.Gln8362=) c.25056G>A (p.Gln8352=) c.25092G>A (p.Gln8364=) c.25038G>A (p.Gln8346=) c.25035G>A (p.Gln8345=) c.25023G>A (p.Gln8341=) c.24966G>A (p.Gln8322=) c.24954G>A (p.Gln8318=) c.24951G>A (p.Gln8317=) c.24948G>A (p.Gln8316=) c.25104G>A (p.Gln8368=) c.24942G>A (p.Gln8314=) c.23382G>A (p.Gln7794=) c.22875G>A (p.Gln7625=) c.18342G>A (p.Gln6114=) c.1608G>A (p.Gln536=) c.25080G>A (p.Gln8360=) c.25029G>A (p.Gln8343=) c.24882G>A (p.Gln8294=) | |
| 6 | g.152143741T>A | CA366083289 | SYNE1 | c.1535A>T (p.Gln512Leu) c.25001A>T (p.Gln8334Leu) c.24857A>T (p.Gln8286Leu) c.403A>T c.736A>T c.891-3580A>T c.773A>T (p.Gln258Leu) c.23786A>T (p.Gln7929Leu) n.1749A>T c.3836A>T (p.Gln1279Leu) n.8693A>T c.2939A>T (p.Gln980Leu) n.8585A>T n.1615A>T n.4023A>T n.1838A>T c.1466A>T (p.Gln489Leu) c.25106A>T (p.Gln8369Leu) c.25094A>T (p.Gln8365Leu) c.25085A>T (p.Gln8362Leu) c.25055A>T (p.Gln8352Leu) c.25091A>T (p.Gln8364Leu) c.25037A>T (p.Gln8346Leu) c.25034A>T (p.Gln8345Leu) c.25022A>T (p.Gln8341Leu) c.24965A>T (p.Gln8322Leu) c.24953A>T (p.Gln8318Leu) c.24950A>T (p.Gln8317Leu) c.24947A>T (p.Gln8316Leu) c.25103A>T (p.Gln8368Leu) c.24941A>T (p.Gln8314Leu) c.23381A>T (p.Gln7794Leu) c.22874A>T (p.Gln7625Leu) c.18341A>T (p.Gln6114Leu) c.1607A>T (p.Gln536Leu) c.25079A>T (p.Gln8360Leu) c.25028A>T (p.Gln8343Leu) c.24881A>T (p.Gln8294Leu) | |
| 6 | g.152143741T>C | CA366083290 | SYNE1 | c.1535A>G (p.Gln512Arg) c.25001A>G (p.Gln8334Arg) c.24857A>G (p.Gln8286Arg) c.403A>G c.736A>G c.891-3580A>G c.773A>G (p.Gln258Arg) c.23786A>G (p.Gln7929Arg) n.1749A>G c.3836A>G (p.Gln1279Arg) n.8693A>G c.2939A>G (p.Gln980Arg) n.8585A>G n.1615A>G n.4023A>G n.1838A>G c.1466A>G (p.Gln489Arg) c.25106A>G (p.Gln8369Arg) c.25094A>G (p.Gln8365Arg) c.25085A>G (p.Gln8362Arg) c.25055A>G (p.Gln8352Arg) c.25091A>G (p.Gln8364Arg) c.25037A>G (p.Gln8346Arg) c.25034A>G (p.Gln8345Arg) c.25022A>G (p.Gln8341Arg) c.24965A>G (p.Gln8322Arg) c.24953A>G (p.Gln8318Arg) c.24950A>G (p.Gln8317Arg) c.24947A>G (p.Gln8316Arg) c.25103A>G (p.Gln8368Arg) c.24941A>G (p.Gln8314Arg) c.23381A>G (p.Gln7794Arg) c.22874A>G (p.Gln7625Arg) c.18341A>G (p.Gln6114Arg) c.1607A>G (p.Gln536Arg) c.25079A>G (p.Gln8360Arg) c.25028A>G (p.Gln8343Arg) c.24881A>G (p.Gln8294Arg) | |
| 6 | g.152143741T>G | CA366083292 | SYNE1 | c.1535A>C (p.Gln512Pro) c.25001A>C (p.Gln8334Pro) c.24857A>C (p.Gln8286Pro) c.403A>C c.736A>C c.891-3580A>C c.773A>C (p.Gln258Pro) c.23786A>C (p.Gln7929Pro) n.1749A>C c.3836A>C (p.Gln1279Pro) n.8693A>C c.2939A>C (p.Gln980Pro) n.8585A>C n.1615A>C n.4023A>C n.1838A>C c.1466A>C (p.Gln489Pro) c.25106A>C (p.Gln8369Pro) c.25094A>C (p.Gln8365Pro) c.25085A>C (p.Gln8362Pro) c.25055A>C (p.Gln8352Pro) c.25091A>C (p.Gln8364Pro) c.25037A>C (p.Gln8346Pro) c.25034A>C (p.Gln8345Pro) c.25022A>C (p.Gln8341Pro) c.24965A>C (p.Gln8322Pro) c.24953A>C (p.Gln8318Pro) c.24950A>C (p.Gln8317Pro) c.24947A>C (p.Gln8316Pro) c.25103A>C (p.Gln8368Pro) c.24941A>C (p.Gln8314Pro) c.23381A>C (p.Gln7794Pro) c.22874A>C (p.Gln7625Pro) c.18341A>C (p.Gln6114Pro) c.1607A>C (p.Gln536Pro) c.25079A>C (p.Gln8360Pro) c.25028A>C (p.Gln8343Pro) c.24881A>C (p.Gln8294Pro) | |
| 6 | g.152143742G>A | CA366083294 | SYNE1 | c.1534C>T (p.Gln512Ter) c.25000C>T (p.Gln8334Ter) c.24856C>T (p.Gln8286Ter) c.402C>T c.735C>T c.891-3581C>T c.772C>T (p.Gln258Ter) c.23785C>T (p.Gln7929Ter) n.1748C>T c.3835C>T (p.Gln1279Ter) n.8692C>T c.2938C>T (p.Gln980Ter) n.8584C>T n.1614C>T n.4022C>T n.1837C>T c.1465C>T (p.Gln489Ter) c.25105C>T (p.Gln8369Ter) c.25093C>T (p.Gln8365Ter) c.25084C>T (p.Gln8362Ter) c.25054C>T (p.Gln8352Ter) c.25090C>T (p.Gln8364Ter) c.25036C>T (p.Gln8346Ter) c.25033C>T (p.Gln8345Ter) c.25021C>T (p.Gln8341Ter) c.24964C>T (p.Gln8322Ter) c.24952C>T (p.Gln8318Ter) c.24949C>T (p.Gln8317Ter) c.24946C>T (p.Gln8316Ter) c.25102C>T (p.Gln8368Ter) c.24940C>T (p.Gln8314Ter) c.23380C>T (p.Gln7794Ter) c.22873C>T (p.Gln7625Ter) c.18340C>T (p.Gln6114Ter) c.1606C>T (p.Gln536Ter) c.25078C>T (p.Gln8360Ter) c.25027C>T (p.Gln8343Ter) c.24880C>T (p.Gln8294Ter) | |
| 6 | g.152143742G>C | CA366083295 | SYNE1 | c.1534C>G (p.Gln512Glu) c.25000C>G (p.Gln8334Glu) c.24856C>G (p.Gln8286Glu) c.402C>G c.735C>G c.891-3581C>G c.772C>G (p.Gln258Glu) c.23785C>G (p.Gln7929Glu) n.1748C>G c.3835C>G (p.Gln1279Glu) n.8692C>G c.2938C>G (p.Gln980Glu) n.8584C>G n.1614C>G n.4022C>G n.1837C>G c.1465C>G (p.Gln489Glu) c.25105C>G (p.Gln8369Glu) c.25093C>G (p.Gln8365Glu) c.25084C>G (p.Gln8362Glu) c.25054C>G (p.Gln8352Glu) c.25090C>G (p.Gln8364Glu) c.25036C>G (p.Gln8346Glu) c.25033C>G (p.Gln8345Glu) c.25021C>G (p.Gln8341Glu) c.24964C>G (p.Gln8322Glu) c.24952C>G (p.Gln8318Glu) c.24949C>G (p.Gln8317Glu) c.24946C>G (p.Gln8316Glu) c.25102C>G (p.Gln8368Glu) c.24940C>G (p.Gln8314Glu) c.23380C>G (p.Gln7794Glu) c.22873C>G (p.Gln7625Glu) c.18340C>G (p.Gln6114Glu) c.1606C>G (p.Gln536Glu) c.25078C>G (p.Gln8360Glu) c.25027C>G (p.Gln8343Glu) c.24880C>G (p.Gln8294Glu) | |
| 6 | g.152143742G>T | CA366083296 | SYNE1 | c.1534C>A (p.Gln512Lys) c.25000C>A (p.Gln8334Lys) c.24856C>A (p.Gln8286Lys) c.402C>A c.735C>A c.891-3581C>A c.772C>A (p.Gln258Lys) c.23785C>A (p.Gln7929Lys) n.1748C>A c.3835C>A (p.Gln1279Lys) n.8692C>A c.2938C>A (p.Gln980Lys) n.8584C>A n.1614C>A n.4022C>A n.1837C>A c.1465C>A (p.Gln489Lys) c.25105C>A (p.Gln8369Lys) c.25093C>A (p.Gln8365Lys) c.25084C>A (p.Gln8362Lys) c.25054C>A (p.Gln8352Lys) c.25090C>A (p.Gln8364Lys) c.25036C>A (p.Gln8346Lys) c.25033C>A (p.Gln8345Lys) c.25021C>A (p.Gln8341Lys) c.24964C>A (p.Gln8322Lys) c.24952C>A (p.Gln8318Lys) c.24949C>A (p.Gln8317Lys) c.24946C>A (p.Gln8316Lys) c.25102C>A (p.Gln8368Lys) c.24940C>A (p.Gln8314Lys) c.23380C>A (p.Gln7794Lys) c.22873C>A (p.Gln7625Lys) c.18340C>A (p.Gln6114Lys) c.1606C>A (p.Gln536Lys) c.25078C>A (p.Gln8360Lys) c.25027C>A (p.Gln8343Lys) c.24880C>A (p.Gln8294Lys) | gnomAD v4 |
| 6 | g.152143743T>A | CA452747272 | SYNE1 | c.1533A>T (p.Ser511=) c.24999A>T (p.Ser8333=) c.24855A>T (p.Ser8285=) c.401A>T c.734A>T c.891-3582A>T c.771A>T (p.Ser257=) c.23784A>T (p.Ser7928=) n.1747A>T c.3834A>T (p.Ser1278=) n.8691A>T c.2937A>T (p.Ser979=) n.8583A>T n.1613A>T n.4021A>T n.1836A>T c.1464A>T (p.Ser488=) c.25104A>T (p.Ser8368=) c.25092A>T (p.Ser8364=) c.25083A>T (p.Ser8361=) c.25053A>T (p.Ser8351=) c.25089A>T (p.Ser8363=) c.25035A>T (p.Ser8345=) c.25032A>T (p.Ser8344=) c.25020A>T (p.Ser8340=) c.24963A>T (p.Ser8321=) c.24951A>T (p.Ser8317=) c.24948A>T (p.Ser8316=) c.24945A>T (p.Ser8315=) c.25101A>T (p.Ser8367=) c.24939A>T (p.Ser8313=) c.23379A>T (p.Ser7793=) c.22872A>T (p.Ser7624=) c.18339A>T (p.Ser6113=) c.1605A>T (p.Ser535=) c.25077A>T (p.Ser8359=) c.25026A>T (p.Ser8342=) c.24879A>T (p.Ser8293=) | |
| 6 | g.152143743T>C | CA452747273 | SYNE1 | c.1533A>G (p.Ser511=) c.24999A>G (p.Ser8333=) c.24855A>G (p.Ser8285=) c.401A>G c.734A>G c.891-3582A>G c.771A>G (p.Ser257=) c.23784A>G (p.Ser7928=) n.1747A>G c.3834A>G (p.Ser1278=) n.8691A>G c.2937A>G (p.Ser979=) n.8583A>G n.1613A>G n.4021A>G n.1836A>G c.1464A>G (p.Ser488=) c.25104A>G (p.Ser8368=) c.25092A>G (p.Ser8364=) c.25083A>G (p.Ser8361=) c.25053A>G (p.Ser8351=) c.25089A>G (p.Ser8363=) c.25035A>G (p.Ser8345=) c.25032A>G (p.Ser8344=) c.25020A>G (p.Ser8340=) c.24963A>G (p.Ser8321=) c.24951A>G (p.Ser8317=) c.24948A>G (p.Ser8316=) c.24945A>G (p.Ser8315=) c.25101A>G (p.Ser8367=) c.24939A>G (p.Ser8313=) c.23379A>G (p.Ser7793=) c.22872A>G (p.Ser7624=) c.18339A>G (p.Ser6113=) c.1605A>G (p.Ser535=) c.25077A>G (p.Ser8359=) c.25026A>G (p.Ser8342=) c.24879A>G (p.Ser8293=) | |
| 6 | g.152143743T>G | CA452747274 | SYNE1 | c.1533A>C (p.Ser511=) c.24999A>C (p.Ser8333=) c.24855A>C (p.Ser8285=) c.401A>C c.734A>C c.891-3582A>C c.771A>C (p.Ser257=) c.23784A>C (p.Ser7928=) n.1747A>C c.3834A>C (p.Ser1278=) n.8691A>C c.2937A>C (p.Ser979=) n.8583A>C n.1613A>C n.4021A>C n.1836A>C c.1464A>C (p.Ser488=) c.25104A>C (p.Ser8368=) c.25092A>C (p.Ser8364=) c.25083A>C (p.Ser8361=) c.25053A>C (p.Ser8351=) c.25089A>C (p.Ser8363=) c.25035A>C (p.Ser8345=) c.25032A>C (p.Ser8344=) c.25020A>C (p.Ser8340=) c.24963A>C (p.Ser8321=) c.24951A>C (p.Ser8317=) c.24948A>C (p.Ser8316=) c.24945A>C (p.Ser8315=) c.25101A>C (p.Ser8367=) c.24939A>C (p.Ser8313=) c.23379A>C (p.Ser7793=) c.22872A>C (p.Ser7624=) c.18339A>C (p.Ser6113=) c.1605A>C (p.Ser535=) c.25077A>C (p.Ser8359=) c.25026A>C (p.Ser8342=) c.24879A>C (p.Ser8293=) | |
| 6 | g.152143744G>A | CA366083298 | SYNE1 | c.1532C>T (p.Ser511Leu) c.24998C>T (p.Ser8333Leu) c.24854C>T (p.Ser8285Leu) c.400C>T c.733C>T c.891-3583C>T c.770C>T (p.Ser257Leu) c.23783C>T (p.Ser7928Leu) n.1746C>T c.3833C>T (p.Ser1278Leu) n.8690C>T c.2936C>T (p.Ser979Leu) n.8582C>T n.1612C>T n.4020C>T n.1835C>T c.1463C>T (p.Ser488Leu) c.25103C>T (p.Ser8368Leu) c.25091C>T (p.Ser8364Leu) c.25082C>T (p.Ser8361Leu) c.25052C>T (p.Ser8351Leu) c.25088C>T (p.Ser8363Leu) c.25034C>T (p.Ser8345Leu) c.25031C>T (p.Ser8344Leu) c.25019C>T (p.Ser8340Leu) c.24962C>T (p.Ser8321Leu) c.24950C>T (p.Ser8317Leu) c.24947C>T (p.Ser8316Leu) c.24944C>T (p.Ser8315Leu) c.25100C>T (p.Ser8367Leu) c.24938C>T (p.Ser8313Leu) c.23378C>T (p.Ser7793Leu) c.22871C>T (p.Ser7624Leu) c.18338C>T (p.Ser6113Leu) c.1604C>T (p.Ser535Leu) c.25076C>T (p.Ser8359Leu) c.25025C>T (p.Ser8342Leu) c.24878C>T (p.Ser8293Leu) | gnomAD v4 |
| 6 | g.152143744G>C | CA366083302 | SYNE1 | c.1532C>G (p.Ser511Ter) c.24998C>G (p.Ser8333Ter) c.24854C>G (p.Ser8285Ter) c.400C>G c.733C>G c.891-3583C>G c.770C>G (p.Ser257Ter) c.23783C>G (p.Ser7928Ter) n.1746C>G c.3833C>G (p.Ser1278Ter) n.8690C>G c.2936C>G (p.Ser979Ter) n.8582C>G n.1612C>G n.4020C>G n.1835C>G c.1463C>G (p.Ser488Ter) c.25103C>G (p.Ser8368Ter) c.25091C>G (p.Ser8364Ter) c.25082C>G (p.Ser8361Ter) c.25052C>G (p.Ser8351Ter) c.25088C>G (p.Ser8363Ter) c.25034C>G (p.Ser8345Ter) c.25031C>G (p.Ser8344Ter) c.25019C>G (p.Ser8340Ter) c.24962C>G (p.Ser8321Ter) c.24950C>G (p.Ser8317Ter) c.24947C>G (p.Ser8316Ter) c.24944C>G (p.Ser8315Ter) c.25100C>G (p.Ser8367Ter) c.24938C>G (p.Ser8313Ter) c.23378C>G (p.Ser7793Ter) c.22871C>G (p.Ser7624Ter) c.18338C>G (p.Ser6113Ter) c.1604C>G (p.Ser535Ter) c.25076C>G (p.Ser8359Ter) c.25025C>G (p.Ser8342Ter) c.24878C>G (p.Ser8293Ter) | |
| 6 | g.152143744G>T | CA366083300 | SYNE1 | c.1532C>A (p.Ser511Ter) c.24998C>A (p.Ser8333Ter) c.24854C>A (p.Ser8285Ter) c.400C>A c.733C>A c.891-3583C>A c.770C>A (p.Ser257Ter) c.23783C>A (p.Ser7928Ter) n.1746C>A c.3833C>A (p.Ser1278Ter) n.8690C>A c.2936C>A (p.Ser979Ter) n.8582C>A n.1612C>A n.4020C>A n.1835C>A c.1463C>A (p.Ser488Ter) c.25103C>A (p.Ser8368Ter) c.25091C>A (p.Ser8364Ter) c.25082C>A (p.Ser8361Ter) c.25052C>A (p.Ser8351Ter) c.25088C>A (p.Ser8363Ter) c.25034C>A (p.Ser8345Ter) c.25031C>A (p.Ser8344Ter) c.25019C>A (p.Ser8340Ter) c.24962C>A (p.Ser8321Ter) c.24950C>A (p.Ser8317Ter) c.24947C>A (p.Ser8316Ter) c.24944C>A (p.Ser8315Ter) c.25100C>A (p.Ser8367Ter) c.24938C>A (p.Ser8313Ter) c.23378C>A (p.Ser7793Ter) c.22871C>A (p.Ser7624Ter) c.18338C>A (p.Ser6113Ter) c.1604C>A (p.Ser535Ter) c.25076C>A (p.Ser8359Ter) c.25025C>A (p.Ser8342Ter) c.24878C>A (p.Ser8293Ter) | |
| 6 | g.152143745A>C | CA366083303 | SYNE1 | c.1531T>G (p.Ser511Ala) c.24997T>G (p.Ser8333Ala) c.24853T>G (p.Ser8285Ala) c.399T>G c.732T>G c.891-3584T>G c.769T>G (p.Ser257Ala) c.23782T>G (p.Ser7928Ala) n.1745T>G c.3832T>G (p.Ser1278Ala) n.8689T>G c.2935T>G (p.Ser979Ala) n.8581T>G n.1611T>G n.4019T>G n.1834T>G c.1462T>G (p.Ser488Ala) c.25102T>G (p.Ser8368Ala) c.25090T>G (p.Ser8364Ala) c.25081T>G (p.Ser8361Ala) c.25051T>G (p.Ser8351Ala) c.25087T>G (p.Ser8363Ala) c.25033T>G (p.Ser8345Ala) c.25030T>G (p.Ser8344Ala) c.25018T>G (p.Ser8340Ala) c.24961T>G (p.Ser8321Ala) c.24949T>G (p.Ser8317Ala) c.24946T>G (p.Ser8316Ala) c.24943T>G (p.Ser8315Ala) c.25099T>G (p.Ser8367Ala) c.24937T>G (p.Ser8313Ala) c.23377T>G (p.Ser7793Ala) c.22870T>G (p.Ser7624Ala) c.18337T>G (p.Ser6113Ala) c.1603T>G (p.Ser535Ala) c.25075T>G (p.Ser8359Ala) c.25024T>G (p.Ser8342Ala) c.24877T>G (p.Ser8293Ala) | |
| 6 | g.152143745A>G | CA366083305 | SYNE1 | c.1531T>C (p.Ser511Pro) c.24997T>C (p.Ser8333Pro) c.24853T>C (p.Ser8285Pro) c.399T>C c.732T>C c.891-3584T>C c.769T>C (p.Ser257Pro) c.23782T>C (p.Ser7928Pro) n.1745T>C c.3832T>C (p.Ser1278Pro) n.8689T>C c.2935T>C (p.Ser979Pro) n.8581T>C n.1611T>C n.4019T>C n.1834T>C c.1462T>C (p.Ser488Pro) c.25102T>C (p.Ser8368Pro) c.25090T>C (p.Ser8364Pro) c.25081T>C (p.Ser8361Pro) c.25051T>C (p.Ser8351Pro) c.25087T>C (p.Ser8363Pro) c.25033T>C (p.Ser8345Pro) c.25030T>C (p.Ser8344Pro) c.25018T>C (p.Ser8340Pro) c.24961T>C (p.Ser8321Pro) c.24949T>C (p.Ser8317Pro) c.24946T>C (p.Ser8316Pro) c.24943T>C (p.Ser8315Pro) c.25099T>C (p.Ser8367Pro) c.24937T>C (p.Ser8313Pro) c.23377T>C (p.Ser7793Pro) c.22870T>C (p.Ser7624Pro) c.18337T>C (p.Ser6113Pro) c.1603T>C (p.Ser535Pro) c.25075T>C (p.Ser8359Pro) c.25024T>C (p.Ser8342Pro) c.24877T>C (p.Ser8293Pro) | |
| 6 | g.152143745A>T | CA366083308 | SYNE1 | c.1531T>A (p.Ser511Thr) c.24997T>A (p.Ser8333Thr) c.24853T>A (p.Ser8285Thr) c.399T>A c.732T>A c.891-3584T>A c.769T>A (p.Ser257Thr) c.23782T>A (p.Ser7928Thr) n.1745T>A c.3832T>A (p.Ser1278Thr) n.8689T>A c.2935T>A (p.Ser979Thr) n.8581T>A n.1611T>A n.4019T>A n.1834T>A c.1462T>A (p.Ser488Thr) c.25102T>A (p.Ser8368Thr) c.25090T>A (p.Ser8364Thr) c.25081T>A (p.Ser8361Thr) c.25051T>A (p.Ser8351Thr) c.25087T>A (p.Ser8363Thr) c.25033T>A (p.Ser8345Thr) c.25030T>A (p.Ser8344Thr) c.25018T>A (p.Ser8340Thr) c.24961T>A (p.Ser8321Thr) c.24949T>A (p.Ser8317Thr) c.24946T>A (p.Ser8316Thr) c.24943T>A (p.Ser8315Thr) c.25099T>A (p.Ser8367Thr) c.24937T>A (p.Ser8313Thr) c.23377T>A (p.Ser7793Thr) c.22870T>A (p.Ser7624Thr) c.18337T>A (p.Ser6113Thr) c.1603T>A (p.Ser535Thr) c.25075T>A (p.Ser8359Thr) c.25024T>A (p.Ser8342Thr) c.24877T>A (p.Ser8293Thr) | |
| 6 | g.152143746C>A | CA366083309 | SYNE1 | c.1530G>T (p.Glu510Asp) c.24996G>T (p.Glu8332Asp) c.24852G>T (p.Glu8284Asp) c.398G>T c.731G>T c.891-3585G>T c.768G>T (p.Glu256Asp) c.23781G>T (p.Glu7927Asp) n.1744G>T c.3831G>T (p.Glu1277Asp) n.8688G>T c.2934G>T (p.Glu978Asp) n.8580G>T n.1610G>T n.4018G>T n.1833G>T c.1461G>T (p.Glu487Asp) c.25101G>T (p.Glu8367Asp) c.25089G>T (p.Glu8363Asp) c.25080G>T (p.Glu8360Asp) c.25050G>T (p.Glu8350Asp) c.25086G>T (p.Glu8362Asp) c.25032G>T (p.Glu8344Asp) c.25029G>T (p.Glu8343Asp) c.25017G>T (p.Glu8339Asp) c.24960G>T (p.Glu8320Asp) c.24948G>T (p.Glu8316Asp) c.24945G>T (p.Glu8315Asp) c.24942G>T (p.Glu8314Asp) c.25098G>T (p.Glu8366Asp) c.24936G>T (p.Glu8312Asp) c.23376G>T (p.Glu7792Asp) c.22869G>T (p.Glu7623Asp) c.18336G>T (p.Glu6112Asp) c.1602G>T (p.Glu534Asp) c.25074G>T (p.Glu8358Asp) c.25023G>T (p.Glu8341Asp) c.24876G>T (p.Glu8292Asp) | |
| 6 | g.152143746C>G | CA366083310 | SYNE1 | c.1530G>C (p.Glu510Asp) c.24996G>C (p.Glu8332Asp) c.24852G>C (p.Glu8284Asp) c.398G>C c.731G>C c.891-3585G>C c.768G>C (p.Glu256Asp) c.23781G>C (p.Glu7927Asp) n.1744G>C c.3831G>C (p.Glu1277Asp) n.8688G>C c.2934G>C (p.Glu978Asp) n.8580G>C n.1610G>C n.4018G>C n.1833G>C c.1461G>C (p.Glu487Asp) c.25101G>C (p.Glu8367Asp) c.25089G>C (p.Glu8363Asp) c.25080G>C (p.Glu8360Asp) c.25050G>C (p.Glu8350Asp) c.25086G>C (p.Glu8362Asp) c.25032G>C (p.Glu8344Asp) c.25029G>C (p.Glu8343Asp) c.25017G>C (p.Glu8339Asp) c.24960G>C (p.Glu8320Asp) c.24948G>C (p.Glu8316Asp) c.24945G>C (p.Glu8315Asp) c.24942G>C (p.Glu8314Asp) c.25098G>C (p.Glu8366Asp) c.24936G>C (p.Glu8312Asp) c.23376G>C (p.Glu7792Asp) c.22869G>C (p.Glu7623Asp) c.18336G>C (p.Glu6112Asp) c.1602G>C (p.Glu534Asp) c.25074G>C (p.Glu8358Asp) c.25023G>C (p.Glu8341Asp) c.24876G>C (p.Glu8292Asp) | |
| 6 | g.152143746C>T | CA452747275 | SYNE1 | c.1530G>A (p.Glu510=) c.24996G>A (p.Glu8332=) c.24852G>A (p.Glu8284=) c.398G>A c.731G>A c.891-3585G>A c.768G>A (p.Glu256=) c.23781G>A (p.Glu7927=) n.1744G>A c.3831G>A (p.Glu1277=) n.8688G>A c.2934G>A (p.Glu978=) n.8580G>A n.1610G>A n.4018G>A n.1833G>A c.1461G>A (p.Glu487=) c.25101G>A (p.Glu8367=) c.25089G>A (p.Glu8363=) c.25080G>A (p.Glu8360=) c.25050G>A (p.Glu8350=) c.25086G>A (p.Glu8362=) c.25032G>A (p.Glu8344=) c.25029G>A (p.Glu8343=) c.25017G>A (p.Glu8339=) c.24960G>A (p.Glu8320=) c.24948G>A (p.Glu8316=) c.24945G>A (p.Glu8315=) c.24942G>A (p.Glu8314=) c.25098G>A (p.Glu8366=) c.24936G>A (p.Glu8312=) c.23376G>A (p.Glu7792=) c.22869G>A (p.Glu7623=) c.18336G>A (p.Glu6112=) c.1602G>A (p.Glu534=) c.25074G>A (p.Glu8358=) c.25023G>A (p.Glu8341=) c.24876G>A (p.Glu8292=) | gnomAD v4 |
| 6 | g.152143747_152143779del | CA2580075218 | SYNE1 | c.1511-13_1530del c.24977-13_24996del c.24833-13_24852del c.379-13_398del c.712-13_731del c.891-3617_891-3585del c.749-13_768del c.23762-13_23781del n.1725-13_1744del c.3812-13_3831del n.8669-13_8688del c.2915-13_2934del n.8561-13_8580del n.1591-13_1610del n.3986_4018del n.1814-13_1833del c.1442-13_1461del c.25082-13_25101del c.25070-13_25089del c.25061-13_25080del c.25031-13_25050del c.25067-13_25086del c.25013-13_25032del c.25010-13_25029del c.24998-13_25017del c.24941-13_24960del c.24929-13_24948del c.24926-13_24945del c.24923-13_24942del c.25079-13_25098del c.24917-13_24936del c.23357-13_23376del c.22850-13_22869del c.18317-13_18336del c.1583-13_1602del c.25055-13_25074del c.25004-13_25023del c.24857-13_24876del | ClinVar |
| 6 | g.152143747T>A | CA366083313 | SYNE1 | c.1529A>T (p.Glu510Val) c.24995A>T (p.Glu8332Val) c.24851A>T (p.Glu8284Val) c.397A>T c.730A>T c.891-3586A>T c.767A>T (p.Glu256Val) c.23780A>T (p.Glu7927Val) n.1743A>T c.3830A>T (p.Glu1277Val) n.8687A>T c.2933A>T (p.Glu978Val) n.8579A>T n.1609A>T n.4017A>T n.1832A>T c.1460A>T (p.Glu487Val) c.25100A>T (p.Glu8367Val) c.25088A>T (p.Glu8363Val) c.25079A>T (p.Glu8360Val) c.25049A>T (p.Glu8350Val) c.25085A>T (p.Glu8362Val) c.25031A>T (p.Glu8344Val) c.25028A>T (p.Glu8343Val) c.25016A>T (p.Glu8339Val) c.24959A>T (p.Glu8320Val) c.24947A>T (p.Glu8316Val) c.24944A>T (p.Glu8315Val) c.24941A>T (p.Glu8314Val) c.25097A>T (p.Glu8366Val) c.24935A>T (p.Glu8312Val) c.23375A>T (p.Glu7792Val) c.22868A>T (p.Glu7623Val) c.18335A>T (p.Glu6112Val) c.1601A>T (p.Glu534Val) c.25073A>T (p.Glu8358Val) c.25022A>T (p.Glu8341Val) c.24875A>T (p.Glu8292Val) | |
| 6 | g.152143747T>C | CA366083315 | SYNE1 | c.1529A>G (p.Glu510Gly) c.24995A>G (p.Glu8332Gly) c.24851A>G (p.Glu8284Gly) c.397A>G c.730A>G c.891-3586A>G c.767A>G (p.Glu256Gly) c.23780A>G (p.Glu7927Gly) n.1743A>G c.3830A>G (p.Glu1277Gly) n.8687A>G c.2933A>G (p.Glu978Gly) n.8579A>G n.1609A>G n.4017A>G n.1832A>G c.1460A>G (p.Glu487Gly) c.25100A>G (p.Glu8367Gly) c.25088A>G (p.Glu8363Gly) c.25079A>G (p.Glu8360Gly) c.25049A>G (p.Glu8350Gly) c.25085A>G (p.Glu8362Gly) c.25031A>G (p.Glu8344Gly) c.25028A>G (p.Glu8343Gly) c.25016A>G (p.Glu8339Gly) c.24959A>G (p.Glu8320Gly) c.24947A>G (p.Glu8316Gly) c.24944A>G (p.Glu8315Gly) c.24941A>G (p.Glu8314Gly) c.25097A>G (p.Glu8366Gly) c.24935A>G (p.Glu8312Gly) c.23375A>G (p.Glu7792Gly) c.22868A>G (p.Glu7623Gly) c.18335A>G (p.Glu6112Gly) c.1601A>G (p.Glu534Gly) c.25073A>G (p.Glu8358Gly) c.25022A>G (p.Glu8341Gly) c.24875A>G (p.Glu8292Gly) | |
| 6 | g.152143747T>G | CA366083317 | SYNE1 | c.1529A>C (p.Glu510Ala) c.24995A>C (p.Glu8332Ala) c.24851A>C (p.Glu8284Ala) c.397A>C c.730A>C c.891-3586A>C c.767A>C (p.Glu256Ala) c.23780A>C (p.Glu7927Ala) n.1743A>C c.3830A>C (p.Glu1277Ala) n.8687A>C c.2933A>C (p.Glu978Ala) n.8579A>C n.1609A>C n.4017A>C n.1832A>C c.1460A>C (p.Glu487Ala) c.25100A>C (p.Glu8367Ala) c.25088A>C (p.Glu8363Ala) c.25079A>C (p.Glu8360Ala) c.25049A>C (p.Glu8350Ala) c.25085A>C (p.Glu8362Ala) c.25031A>C (p.Glu8344Ala) c.25028A>C (p.Glu8343Ala) c.25016A>C (p.Glu8339Ala) c.24959A>C (p.Glu8320Ala) c.24947A>C (p.Glu8316Ala) c.24944A>C (p.Glu8315Ala) c.24941A>C (p.Glu8314Ala) c.25097A>C (p.Glu8366Ala) c.24935A>C (p.Glu8312Ala) c.23375A>C (p.Glu7792Ala) c.22868A>C (p.Glu7623Ala) c.18335A>C (p.Glu6112Ala) c.1601A>C (p.Glu534Ala) c.25073A>C (p.Glu8358Ala) c.25022A>C (p.Glu8341Ala) c.24875A>C (p.Glu8292Ala) | |
| 6 | g.152143748C>A | CA366083319 | SYNE1 | c.1528G>T (p.Glu510Ter) c.24994G>T (p.Glu8332Ter) c.24850G>T (p.Glu8284Ter) c.396G>T c.729G>T c.891-3587G>T c.766G>T (p.Glu256Ter) c.23779G>T (p.Glu7927Ter) n.1742G>T c.3829G>T (p.Glu1277Ter) n.8686G>T c.2932G>T (p.Glu978Ter) n.8578G>T n.1608G>T n.4016G>T n.1831G>T c.1459G>T (p.Glu487Ter) c.25099G>T (p.Glu8367Ter) c.25087G>T (p.Glu8363Ter) c.25078G>T (p.Glu8360Ter) c.25048G>T (p.Glu8350Ter) c.25084G>T (p.Glu8362Ter) c.25030G>T (p.Glu8344Ter) c.25027G>T (p.Glu8343Ter) c.25015G>T (p.Glu8339Ter) c.24958G>T (p.Glu8320Ter) c.24946G>T (p.Glu8316Ter) c.24943G>T (p.Glu8315Ter) c.24940G>T (p.Glu8314Ter) c.25096G>T (p.Glu8366Ter) c.24934G>T (p.Glu8312Ter) c.23374G>T (p.Glu7792Ter) c.22867G>T (p.Glu7623Ter) c.18334G>T (p.Glu6112Ter) c.1600G>T (p.Glu534Ter) c.25072G>T (p.Glu8358Ter) c.25021G>T (p.Glu8341Ter) c.24874G>T (p.Glu8292Ter) |