| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152213637A>C | CA366099067 | SYNE1 | c.22469T>G (p.Leu7490Arg) c.22256T>G (p.Leu7419Arg) c.21254T>G (p.Leu7085Arg) c.1235T>G (p.Leu412Arg) n.6161T>G c.407T>G (p.Leu136Arg) n.6053T>G c.22505T>G (p.Leu7502Arg) c.22493T>G (p.Leu7498Arg) c.22484T>G (p.Leu7495Arg) c.22454T>G (p.Leu7485Arg) c.22490T>G (p.Leu7497Arg) c.22433T>G (p.Leu7478Arg) c.22364T>G (p.Leu7455Arg) c.22352T>G (p.Leu7451Arg) c.22349T>G (p.Leu7450Arg) c.22346T>G (p.Leu7449Arg) c.22502T>G (p.Leu7501Arg) c.22340T>G (p.Leu7447Arg) c.20780T>G (p.Leu6927Arg) c.20273T>G (p.Leu6758Arg) c.15740T>G (p.Leu5247Arg) c.22478T>G (p.Leu7493Arg) c.22427T>G (p.Leu7476Arg) | |
| 6 | g.152213637A>G | CA366099068 | SYNE1 | c.22469T>C (p.Leu7490Pro) c.22256T>C (p.Leu7419Pro) c.21254T>C (p.Leu7085Pro) c.1235T>C (p.Leu412Pro) n.6161T>C c.407T>C (p.Leu136Pro) n.6053T>C c.22505T>C (p.Leu7502Pro) c.22493T>C (p.Leu7498Pro) c.22484T>C (p.Leu7495Pro) c.22454T>C (p.Leu7485Pro) c.22490T>C (p.Leu7497Pro) c.22433T>C (p.Leu7478Pro) c.22364T>C (p.Leu7455Pro) c.22352T>C (p.Leu7451Pro) c.22349T>C (p.Leu7450Pro) c.22346T>C (p.Leu7449Pro) c.22502T>C (p.Leu7501Pro) c.22340T>C (p.Leu7447Pro) c.20780T>C (p.Leu6927Pro) c.20273T>C (p.Leu6758Pro) c.15740T>C (p.Leu5247Pro) c.22478T>C (p.Leu7493Pro) c.22427T>C (p.Leu7476Pro) | |
| 6 | g.152213637A>T | CA366099070 | SYNE1 | c.22469T>A (p.Leu7490His) c.22256T>A (p.Leu7419His) c.21254T>A (p.Leu7085His) c.1235T>A (p.Leu412His) n.6161T>A c.407T>A (p.Leu136His) n.6053T>A c.22505T>A (p.Leu7502His) c.22493T>A (p.Leu7498His) c.22484T>A (p.Leu7495His) c.22454T>A (p.Leu7485His) c.22490T>A (p.Leu7497His) c.22433T>A (p.Leu7478His) c.22364T>A (p.Leu7455His) c.22352T>A (p.Leu7451His) c.22349T>A (p.Leu7450His) c.22346T>A (p.Leu7449His) c.22502T>A (p.Leu7501His) c.22340T>A (p.Leu7447His) c.20780T>A (p.Leu6927His) c.20273T>A (p.Leu6758His) c.15740T>A (p.Leu5247His) c.22478T>A (p.Leu7493His) c.22427T>A (p.Leu7476His) | |
| 6 | g.152213638G>A | CA366099072 | SYNE1 | c.22468C>T (p.Leu7490Phe) c.22255C>T (p.Leu7419Phe) c.21253C>T (p.Leu7085Phe) c.1234C>T (p.Leu412Phe) n.6160C>T c.406C>T (p.Leu136Phe) n.6052C>T c.22504C>T (p.Leu7502Phe) c.22492C>T (p.Leu7498Phe) c.22483C>T (p.Leu7495Phe) c.22453C>T (p.Leu7485Phe) c.22489C>T (p.Leu7497Phe) c.22432C>T (p.Leu7478Phe) c.22363C>T (p.Leu7455Phe) c.22351C>T (p.Leu7451Phe) c.22348C>T (p.Leu7450Phe) c.22345C>T (p.Leu7449Phe) c.22501C>T (p.Leu7501Phe) c.22339C>T (p.Leu7447Phe) c.20779C>T (p.Leu6927Phe) c.20272C>T (p.Leu6758Phe) c.15739C>T (p.Leu5247Phe) c.22477C>T (p.Leu7493Phe) c.22426C>T (p.Leu7476Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152213638G>C | CA366099074 | SYNE1 | c.22468C>G (p.Leu7490Val) c.22255C>G (p.Leu7419Val) c.21253C>G (p.Leu7085Val) c.1234C>G (p.Leu412Val) n.6160C>G c.406C>G (p.Leu136Val) n.6052C>G c.22504C>G (p.Leu7502Val) c.22492C>G (p.Leu7498Val) c.22483C>G (p.Leu7495Val) c.22453C>G (p.Leu7485Val) c.22489C>G (p.Leu7497Val) c.22432C>G (p.Leu7478Val) c.22363C>G (p.Leu7455Val) c.22351C>G (p.Leu7451Val) c.22348C>G (p.Leu7450Val) c.22345C>G (p.Leu7449Val) c.22501C>G (p.Leu7501Val) c.22339C>G (p.Leu7447Val) c.20779C>G (p.Leu6927Val) c.20272C>G (p.Leu6758Val) c.15739C>G (p.Leu5247Val) c.22477C>G (p.Leu7493Val) c.22426C>G (p.Leu7476Val) | |
| 6 | g.152213638G= | CA1673241100 | SYNE1 | c.22468C= (p.Leu7490=) c.22255C= (p.Leu7419=) c.21253C= (p.Leu7085=) c.1234C= (p.Leu412=) n.6160C= c.406C= (p.Leu136=) n.6052C= c.22504C= (p.Leu7502=) c.22492C= (p.Leu7498=) c.22483C= (p.Leu7495=) c.22453C= (p.Leu7485=) c.22489C= (p.Leu7497=) c.22432C= (p.Leu7478=) c.22363C= (p.Leu7455=) c.22351C= (p.Leu7451=) c.22348C= (p.Leu7450=) c.22345C= (p.Leu7449=) c.22501C= (p.Leu7501=) c.22339C= (p.Leu7447=) c.20779C= (p.Leu6927=) c.20272C= (p.Leu6758=) c.15739C= (p.Leu5247=) c.22477C= (p.Leu7493=) c.22426C= (p.Leu7476=) | |
| 6 | g.152213638G>T | CA366099076 | SYNE1 | c.22468C>A (p.Leu7490Ile) c.22255C>A (p.Leu7419Ile) c.21253C>A (p.Leu7085Ile) c.1234C>A (p.Leu412Ile) n.6160C>A c.406C>A (p.Leu136Ile) n.6052C>A c.22504C>A (p.Leu7502Ile) c.22492C>A (p.Leu7498Ile) c.22483C>A (p.Leu7495Ile) c.22453C>A (p.Leu7485Ile) c.22489C>A (p.Leu7497Ile) c.22432C>A (p.Leu7478Ile) c.22363C>A (p.Leu7455Ile) c.22351C>A (p.Leu7451Ile) c.22348C>A (p.Leu7450Ile) c.22345C>A (p.Leu7449Ile) c.22501C>A (p.Leu7501Ile) c.22339C>A (p.Leu7447Ile) c.20779C>A (p.Leu6927Ile) c.20272C>A (p.Leu6758Ile) c.15739C>A (p.Leu5247Ile) c.22477C>A (p.Leu7493Ile) c.22426C>A (p.Leu7476Ile) | |
| 6 | g.152213639G>A | CA452748432 | SYNE1 | c.22467C>T (p.His7489=) c.22254C>T (p.His7418=) c.21252C>T (p.His7084=) c.1233C>T (p.His411=) n.6159C>T c.405C>T (p.His135=) n.6051C>T c.22503C>T (p.His7501=) c.22491C>T (p.His7497=) c.22482C>T (p.His7494=) c.22452C>T (p.His7484=) c.22488C>T (p.His7496=) c.22431C>T (p.His7477=) c.22362C>T (p.His7454=) c.22350C>T (p.His7450=) c.22347C>T (p.His7449=) c.22344C>T (p.His7448=) c.22500C>T (p.His7500=) c.22338C>T (p.His7446=) c.20778C>T (p.His6926=) c.20271C>T (p.His6757=) c.15738C>T (p.His5246=) c.22476C>T (p.His7492=) c.22425C>T (p.His7475=) | |
| 6 | g.152213639G>C | CA366099078 | SYNE1 | c.22467C>G (p.His7489Gln) c.22254C>G (p.His7418Gln) c.21252C>G (p.His7084Gln) c.1233C>G (p.His411Gln) n.6159C>G c.405C>G (p.His135Gln) n.6051C>G c.22503C>G (p.His7501Gln) c.22491C>G (p.His7497Gln) c.22482C>G (p.His7494Gln) c.22452C>G (p.His7484Gln) c.22488C>G (p.His7496Gln) c.22431C>G (p.His7477Gln) c.22362C>G (p.His7454Gln) c.22350C>G (p.His7450Gln) c.22347C>G (p.His7449Gln) c.22344C>G (p.His7448Gln) c.22500C>G (p.His7500Gln) c.22338C>G (p.His7446Gln) c.20778C>G (p.His6926Gln) c.20271C>G (p.His6757Gln) c.15738C>G (p.His5246Gln) c.22476C>G (p.His7492Gln) c.22425C>G (p.His7475Gln) | |
| 6 | g.152213639G>T | CA366099080 | SYNE1 | c.22467C>A (p.His7489Gln) c.22254C>A (p.His7418Gln) c.21252C>A (p.His7084Gln) c.1233C>A (p.His411Gln) n.6159C>A c.405C>A (p.His135Gln) n.6051C>A c.22503C>A (p.His7501Gln) c.22491C>A (p.His7497Gln) c.22482C>A (p.His7494Gln) c.22452C>A (p.His7484Gln) c.22488C>A (p.His7496Gln) c.22431C>A (p.His7477Gln) c.22362C>A (p.His7454Gln) c.22350C>A (p.His7450Gln) c.22347C>A (p.His7449Gln) c.22344C>A (p.His7448Gln) c.22500C>A (p.His7500Gln) c.22338C>A (p.His7446Gln) c.20778C>A (p.His6926Gln) c.20271C>A (p.His6757Gln) c.15738C>A (p.His5246Gln) c.22476C>A (p.His7492Gln) c.22425C>A (p.His7475Gln) | |
| 6 | g.152213640T>A | CA366099081 | SYNE1 | c.22466A>T (p.His7489Leu) c.22253A>T (p.His7418Leu) c.21251A>T (p.His7084Leu) c.1232A>T (p.His411Leu) n.6158A>T c.404A>T (p.His135Leu) n.6050A>T c.22502A>T (p.His7501Leu) c.22490A>T (p.His7497Leu) c.22481A>T (p.His7494Leu) c.22451A>T (p.His7484Leu) c.22487A>T (p.His7496Leu) c.22430A>T (p.His7477Leu) c.22361A>T (p.His7454Leu) c.22349A>T (p.His7450Leu) c.22346A>T (p.His7449Leu) c.22343A>T (p.His7448Leu) c.22499A>T (p.His7500Leu) c.22337A>T (p.His7446Leu) c.20777A>T (p.His6926Leu) c.20270A>T (p.His6757Leu) c.15737A>T (p.His5246Leu) c.22475A>T (p.His7492Leu) c.22424A>T (p.His7475Leu) | |
| 6 | g.152213640T>C | CA366099084 | SYNE1 | c.22466A>G (p.His7489Arg) c.22253A>G (p.His7418Arg) c.21251A>G (p.His7084Arg) c.1232A>G (p.His411Arg) n.6158A>G c.404A>G (p.His135Arg) n.6050A>G c.22502A>G (p.His7501Arg) c.22490A>G (p.His7497Arg) c.22481A>G (p.His7494Arg) c.22451A>G (p.His7484Arg) c.22487A>G (p.His7496Arg) c.22430A>G (p.His7477Arg) c.22361A>G (p.His7454Arg) c.22349A>G (p.His7450Arg) c.22346A>G (p.His7449Arg) c.22343A>G (p.His7448Arg) c.22499A>G (p.His7500Arg) c.22337A>G (p.His7446Arg) c.20777A>G (p.His6926Arg) c.20270A>G (p.His6757Arg) c.15737A>G (p.His5246Arg) c.22475A>G (p.His7492Arg) c.22424A>G (p.His7475Arg) | |
| 6 | g.152213640T>G | CA366099085 | SYNE1 | c.22466A>C (p.His7489Pro) c.22253A>C (p.His7418Pro) c.21251A>C (p.His7084Pro) c.1232A>C (p.His411Pro) n.6158A>C c.404A>C (p.His135Pro) n.6050A>C c.22502A>C (p.His7501Pro) c.22490A>C (p.His7497Pro) c.22481A>C (p.His7494Pro) c.22451A>C (p.His7484Pro) c.22487A>C (p.His7496Pro) c.22430A>C (p.His7477Pro) c.22361A>C (p.His7454Pro) c.22349A>C (p.His7450Pro) c.22346A>C (p.His7449Pro) c.22343A>C (p.His7448Pro) c.22499A>C (p.His7500Pro) c.22337A>C (p.His7446Pro) c.20777A>C (p.His6926Pro) c.20270A>C (p.His6757Pro) c.15737A>C (p.His5246Pro) c.22475A>C (p.His7492Pro) c.22424A>C (p.His7475Pro) | dbSNP |
| 6 | g.152213640T= | CA1673241101 | SYNE1 | c.22466A= (p.His7489=) c.22253A= (p.His7418=) c.21251A= (p.His7084=) c.1232A= (p.His411=) n.6158A= c.404A= (p.His135=) n.6050A= c.22502A= (p.His7501=) c.22490A= (p.His7497=) c.22481A= (p.His7494=) c.22451A= (p.His7484=) c.22487A= (p.His7496=) c.22430A= (p.His7477=) c.22361A= (p.His7454=) c.22349A= (p.His7450=) c.22346A= (p.His7449=) c.22343A= (p.His7448=) c.22499A= (p.His7500=) c.22337A= (p.His7446=) c.20777A= (p.His6926=) c.20270A= (p.His6757=) c.15737A= (p.His5246=) c.22475A= (p.His7492=) c.22424A= (p.His7475=) | |
| 6 | g.152213641G>A | CA366099090 | SYNE1 | c.22465C>T (p.His7489Tyr) c.22252C>T (p.His7418Tyr) c.21250C>T (p.His7084Tyr) c.1231C>T (p.His411Tyr) n.6157C>T c.403C>T (p.His135Tyr) n.6049C>T c.22501C>T (p.His7501Tyr) c.22489C>T (p.His7497Tyr) c.22480C>T (p.His7494Tyr) c.22450C>T (p.His7484Tyr) c.22486C>T (p.His7496Tyr) c.22429C>T (p.His7477Tyr) c.22360C>T (p.His7454Tyr) c.22348C>T (p.His7450Tyr) c.22345C>T (p.His7449Tyr) c.22342C>T (p.His7448Tyr) c.22498C>T (p.His7500Tyr) c.22336C>T (p.His7446Tyr) c.20776C>T (p.His6926Tyr) c.20269C>T (p.His6757Tyr) c.15736C>T (p.His5246Tyr) c.22474C>T (p.His7492Tyr) c.22423C>T (p.His7475Tyr) | |
| 6 | g.152213641G>C | CA366099091 | SYNE1 | c.22465C>G (p.His7489Asp) c.22252C>G (p.His7418Asp) c.21250C>G (p.His7084Asp) c.1231C>G (p.His411Asp) n.6157C>G c.403C>G (p.His135Asp) n.6049C>G c.22501C>G (p.His7501Asp) c.22489C>G (p.His7497Asp) c.22480C>G (p.His7494Asp) c.22450C>G (p.His7484Asp) c.22486C>G (p.His7496Asp) c.22429C>G (p.His7477Asp) c.22360C>G (p.His7454Asp) c.22348C>G (p.His7450Asp) c.22345C>G (p.His7449Asp) c.22342C>G (p.His7448Asp) c.22498C>G (p.His7500Asp) c.22336C>G (p.His7446Asp) c.20776C>G (p.His6926Asp) c.20269C>G (p.His6757Asp) c.15736C>G (p.His5246Asp) c.22474C>G (p.His7492Asp) c.22423C>G (p.His7475Asp) | |
| 6 | g.152213641G>T | CA366099088 | SYNE1 | c.22465C>A (p.His7489Asn) c.22252C>A (p.His7418Asn) c.21250C>A (p.His7084Asn) c.1231C>A (p.His411Asn) n.6157C>A c.403C>A (p.His135Asn) n.6049C>A c.22501C>A (p.His7501Asn) c.22489C>A (p.His7497Asn) c.22480C>A (p.His7494Asn) c.22450C>A (p.His7484Asn) c.22486C>A (p.His7496Asn) c.22429C>A (p.His7477Asn) c.22360C>A (p.His7454Asn) c.22348C>A (p.His7450Asn) c.22345C>A (p.His7449Asn) c.22342C>A (p.His7448Asn) c.22498C>A (p.His7500Asn) c.22336C>A (p.His7446Asn) c.20776C>A (p.His6926Asn) c.20269C>A (p.His6757Asn) c.15736C>A (p.His5246Asn) c.22474C>A (p.His7492Asn) c.22423C>A (p.His7475Asn) | |
| 6 | g.152213642C>A | CA366099093 | SYNE1 | c.22464G>T (p.Gln7488His) c.22251G>T (p.Gln7417His) c.21249G>T (p.Gln7083His) c.1230G>T (p.Gln410His) n.6156G>T c.402G>T (p.Gln134His) n.6048G>T c.22500G>T (p.Gln7500His) c.22488G>T (p.Gln7496His) c.22479G>T (p.Gln7493His) c.22449G>T (p.Gln7483His) c.22485G>T (p.Gln7495His) c.22428G>T (p.Gln7476His) c.22359G>T (p.Gln7453His) c.22347G>T (p.Gln7449His) c.22344G>T (p.Gln7448His) c.22341G>T (p.Gln7447His) c.22497G>T (p.Gln7499His) c.22335G>T (p.Gln7445His) c.20775G>T (p.Gln6925His) c.20268G>T (p.Gln6756His) c.15735G>T (p.Gln5245His) c.22473G>T (p.Gln7491His) c.22422G>T (p.Gln7474His) | |
| 6 | g.152213642C= | CA1673241102 | SYNE1 | c.22464G= (p.Gln7488=) c.22251G= (p.Gln7417=) c.21249G= (p.Gln7083=) c.1230G= (p.Gln410=) n.6156G= c.402G= (p.Gln134=) n.6048G= c.22500G= (p.Gln7500=) c.22488G= (p.Gln7496=) c.22479G= (p.Gln7493=) c.22449G= (p.Gln7483=) c.22485G= (p.Gln7495=) c.22428G= (p.Gln7476=) c.22359G= (p.Gln7453=) c.22347G= (p.Gln7449=) c.22344G= (p.Gln7448=) c.22341G= (p.Gln7447=) c.22497G= (p.Gln7499=) c.22335G= (p.Gln7445=) c.20775G= (p.Gln6925=) c.20268G= (p.Gln6756=) c.15735G= (p.Gln5245=) c.22473G= (p.Gln7491=) c.22422G= (p.Gln7474=) | |
| 6 | g.152213642C>G | CA366099095 | SYNE1 | c.22464G>C (p.Gln7488His) c.22251G>C (p.Gln7417His) c.21249G>C (p.Gln7083His) c.1230G>C (p.Gln410His) n.6156G>C c.402G>C (p.Gln134His) n.6048G>C c.22500G>C (p.Gln7500His) c.22488G>C (p.Gln7496His) c.22479G>C (p.Gln7493His) c.22449G>C (p.Gln7483His) c.22485G>C (p.Gln7495His) c.22428G>C (p.Gln7476His) c.22359G>C (p.Gln7453His) c.22347G>C (p.Gln7449His) c.22344G>C (p.Gln7448His) c.22341G>C (p.Gln7447His) c.22497G>C (p.Gln7499His) c.22335G>C (p.Gln7445His) c.20775G>C (p.Gln6925His) c.20268G>C (p.Gln6756His) c.15735G>C (p.Gln5245His) c.22473G>C (p.Gln7491His) c.22422G>C (p.Gln7474His) | |
| 6 | g.152213642C>T | CA4053881 | SYNE1 | c.22464G>A (p.Gln7488=) c.22251G>A (p.Gln7417=) c.21249G>A (p.Gln7083=) c.1230G>A (p.Gln410=) n.6156G>A c.402G>A (p.Gln134=) n.6048G>A c.22500G>A (p.Gln7500=) c.22488G>A (p.Gln7496=) c.22479G>A (p.Gln7493=) c.22449G>A (p.Gln7483=) c.22485G>A (p.Gln7495=) c.22428G>A (p.Gln7476=) c.22359G>A (p.Gln7453=) c.22347G>A (p.Gln7449=) c.22344G>A (p.Gln7448=) c.22341G>A (p.Gln7447=) c.22497G>A (p.Gln7499=) c.22335G>A (p.Gln7445=) c.20775G>A (p.Gln6925=) c.20268G>A (p.Gln6756=) c.15735G>A (p.Gln5245=) c.22473G>A (p.Gln7491=) c.22422G>A (p.Gln7474=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152213643T>A | CA366099098 | SYNE1 | c.22463A>T (p.Gln7488Leu) c.22250A>T (p.Gln7417Leu) c.21248A>T (p.Gln7083Leu) c.1229A>T (p.Gln410Leu) n.6155A>T c.401A>T (p.Gln134Leu) n.6047A>T c.22499A>T (p.Gln7500Leu) c.22487A>T (p.Gln7496Leu) c.22478A>T (p.Gln7493Leu) c.22448A>T (p.Gln7483Leu) c.22484A>T (p.Gln7495Leu) c.22427A>T (p.Gln7476Leu) c.22358A>T (p.Gln7453Leu) c.22346A>T (p.Gln7449Leu) c.22343A>T (p.Gln7448Leu) c.22340A>T (p.Gln7447Leu) c.22496A>T (p.Gln7499Leu) c.22334A>T (p.Gln7445Leu) c.20774A>T (p.Gln6925Leu) c.20267A>T (p.Gln6756Leu) c.15734A>T (p.Gln5245Leu) c.22472A>T (p.Gln7491Leu) c.22421A>T (p.Gln7474Leu) | |
| 6 | g.152213643T>C | CA366099100 | SYNE1 | c.22463A>G (p.Gln7488Arg) c.22250A>G (p.Gln7417Arg) c.21248A>G (p.Gln7083Arg) c.1229A>G (p.Gln410Arg) n.6155A>G c.401A>G (p.Gln134Arg) n.6047A>G c.22499A>G (p.Gln7500Arg) c.22487A>G (p.Gln7496Arg) c.22478A>G (p.Gln7493Arg) c.22448A>G (p.Gln7483Arg) c.22484A>G (p.Gln7495Arg) c.22427A>G (p.Gln7476Arg) c.22358A>G (p.Gln7453Arg) c.22346A>G (p.Gln7449Arg) c.22343A>G (p.Gln7448Arg) c.22340A>G (p.Gln7447Arg) c.22496A>G (p.Gln7499Arg) c.22334A>G (p.Gln7445Arg) c.20774A>G (p.Gln6925Arg) c.20267A>G (p.Gln6756Arg) c.15734A>G (p.Gln5245Arg) c.22472A>G (p.Gln7491Arg) c.22421A>G (p.Gln7474Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152213643T>G | CA366099101 | SYNE1 | c.22463A>C (p.Gln7488Pro) c.22250A>C (p.Gln7417Pro) c.21248A>C (p.Gln7083Pro) c.1229A>C (p.Gln410Pro) n.6155A>C c.401A>C (p.Gln134Pro) n.6047A>C c.22499A>C (p.Gln7500Pro) c.22487A>C (p.Gln7496Pro) c.22478A>C (p.Gln7493Pro) c.22448A>C (p.Gln7483Pro) c.22484A>C (p.Gln7495Pro) c.22427A>C (p.Gln7476Pro) c.22358A>C (p.Gln7453Pro) c.22346A>C (p.Gln7449Pro) c.22343A>C (p.Gln7448Pro) c.22340A>C (p.Gln7447Pro) c.22496A>C (p.Gln7499Pro) c.22334A>C (p.Gln7445Pro) c.20774A>C (p.Gln6925Pro) c.20267A>C (p.Gln6756Pro) c.15734A>C (p.Gln5245Pro) c.22472A>C (p.Gln7491Pro) c.22421A>C (p.Gln7474Pro) | |
| 6 | g.152213643T= | CA1673241103 | SYNE1 | c.22463A= (p.Gln7488=) c.22250A= (p.Gln7417=) c.21248A= (p.Gln7083=) c.1229A= (p.Gln410=) n.6155A= c.401A= (p.Gln134=) n.6047A= c.22499A= (p.Gln7500=) c.22487A= (p.Gln7496=) c.22478A= (p.Gln7493=) c.22448A= (p.Gln7483=) c.22484A= (p.Gln7495=) c.22427A= (p.Gln7476=) c.22358A= (p.Gln7453=) c.22346A= (p.Gln7449=) c.22343A= (p.Gln7448=) c.22340A= (p.Gln7447=) c.22496A= (p.Gln7499=) c.22334A= (p.Gln7445=) c.20774A= (p.Gln6925=) c.20267A= (p.Gln6756=) c.15734A= (p.Gln5245=) c.22472A= (p.Gln7491=) c.22421A= (p.Gln7474=) | |
| 6 | g.152213644G>A | CA366099104 | SYNE1 | c.22462C>T (p.Gln7488Ter) c.22249C>T (p.Gln7417Ter) c.21247C>T (p.Gln7083Ter) c.1228C>T (p.Gln410Ter) n.6154C>T c.400C>T (p.Gln134Ter) n.6046C>T c.22498C>T (p.Gln7500Ter) c.22486C>T (p.Gln7496Ter) c.22477C>T (p.Gln7493Ter) c.22447C>T (p.Gln7483Ter) c.22483C>T (p.Gln7495Ter) c.22426C>T (p.Gln7476Ter) c.22357C>T (p.Gln7453Ter) c.22345C>T (p.Gln7449Ter) c.22342C>T (p.Gln7448Ter) c.22339C>T (p.Gln7447Ter) c.22495C>T (p.Gln7499Ter) c.22333C>T (p.Gln7445Ter) c.20773C>T (p.Gln6925Ter) c.20266C>T (p.Gln6756Ter) c.15733C>T (p.Gln5245Ter) c.22471C>T (p.Gln7491Ter) c.22420C>T (p.Gln7474Ter) | |
| 6 | g.152213644G>C | CA366099107 | SYNE1 | c.22462C>G (p.Gln7488Glu) c.22249C>G (p.Gln7417Glu) c.21247C>G (p.Gln7083Glu) c.1228C>G (p.Gln410Glu) n.6154C>G c.400C>G (p.Gln134Glu) n.6046C>G c.22498C>G (p.Gln7500Glu) c.22486C>G (p.Gln7496Glu) c.22477C>G (p.Gln7493Glu) c.22447C>G (p.Gln7483Glu) c.22483C>G (p.Gln7495Glu) c.22426C>G (p.Gln7476Glu) c.22357C>G (p.Gln7453Glu) c.22345C>G (p.Gln7449Glu) c.22342C>G (p.Gln7448Glu) c.22339C>G (p.Gln7447Glu) c.22495C>G (p.Gln7499Glu) c.22333C>G (p.Gln7445Glu) c.20773C>G (p.Gln6925Glu) c.20266C>G (p.Gln6756Glu) c.15733C>G (p.Gln5245Glu) c.22471C>G (p.Gln7491Glu) c.22420C>G (p.Gln7474Glu) | |
| 6 | g.152213644G>T | CA366099106 | SYNE1 | c.22462C>A (p.Gln7488Lys) c.22249C>A (p.Gln7417Lys) c.21247C>A (p.Gln7083Lys) c.1228C>A (p.Gln410Lys) n.6154C>A c.400C>A (p.Gln134Lys) n.6046C>A c.22498C>A (p.Gln7500Lys) c.22486C>A (p.Gln7496Lys) c.22477C>A (p.Gln7493Lys) c.22447C>A (p.Gln7483Lys) c.22483C>A (p.Gln7495Lys) c.22426C>A (p.Gln7476Lys) c.22357C>A (p.Gln7453Lys) c.22345C>A (p.Gln7449Lys) c.22342C>A (p.Gln7448Lys) c.22339C>A (p.Gln7447Lys) c.22495C>A (p.Gln7499Lys) c.22333C>A (p.Gln7445Lys) c.20773C>A (p.Gln6925Lys) c.20266C>A (p.Gln6756Lys) c.15733C>A (p.Gln5245Lys) c.22471C>A (p.Gln7491Lys) c.22420C>A (p.Gln7474Lys) | |
| 6 | g.152213645A>C | CA366099109 | SYNE1 | c.22461T>G (p.Tyr7487Ter) c.22248T>G (p.Tyr7416Ter) c.21246T>G (p.Tyr7082Ter) c.1227T>G (p.Tyr409Ter) n.6153T>G c.399T>G (p.Tyr133Ter) n.6045T>G c.22497T>G (p.Tyr7499Ter) c.22485T>G (p.Tyr7495Ter) c.22476T>G (p.Tyr7492Ter) c.22446T>G (p.Tyr7482Ter) c.22482T>G (p.Tyr7494Ter) c.22425T>G (p.Tyr7475Ter) c.22356T>G (p.Tyr7452Ter) c.22344T>G (p.Tyr7448Ter) c.22341T>G (p.Tyr7447Ter) c.22338T>G (p.Tyr7446Ter) c.22494T>G (p.Tyr7498Ter) c.22332T>G (p.Tyr7444Ter) c.20772T>G (p.Tyr6924Ter) c.20265T>G (p.Tyr6755Ter) c.15732T>G (p.Tyr5244Ter) c.22470T>G (p.Tyr7490Ter) c.22419T>G (p.Tyr7473Ter) | |
| 6 | g.152213645A>G | CA452748433 | SYNE1 | c.22461T>C (p.Tyr7487=) c.22248T>C (p.Tyr7416=) c.21246T>C (p.Tyr7082=) c.1227T>C (p.Tyr409=) n.6153T>C c.399T>C (p.Tyr133=) n.6045T>C c.22497T>C (p.Tyr7499=) c.22485T>C (p.Tyr7495=) c.22476T>C (p.Tyr7492=) c.22446T>C (p.Tyr7482=) c.22482T>C (p.Tyr7494=) c.22425T>C (p.Tyr7475=) c.22356T>C (p.Tyr7452=) c.22344T>C (p.Tyr7448=) c.22341T>C (p.Tyr7447=) c.22338T>C (p.Tyr7446=) c.22494T>C (p.Tyr7498=) c.22332T>C (p.Tyr7444=) c.20772T>C (p.Tyr6924=) c.20265T>C (p.Tyr6755=) c.15732T>C (p.Tyr5244=) c.22470T>C (p.Tyr7490=) c.22419T>C (p.Tyr7473=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152213645A>T | CA366099111 | SYNE1 | c.22461T>A (p.Tyr7487Ter) c.22248T>A (p.Tyr7416Ter) c.21246T>A (p.Tyr7082Ter) c.1227T>A (p.Tyr409Ter) n.6153T>A c.399T>A (p.Tyr133Ter) n.6045T>A c.22497T>A (p.Tyr7499Ter) c.22485T>A (p.Tyr7495Ter) c.22476T>A (p.Tyr7492Ter) c.22446T>A (p.Tyr7482Ter) c.22482T>A (p.Tyr7494Ter) c.22425T>A (p.Tyr7475Ter) c.22356T>A (p.Tyr7452Ter) c.22344T>A (p.Tyr7448Ter) c.22341T>A (p.Tyr7447Ter) c.22338T>A (p.Tyr7446Ter) c.22494T>A (p.Tyr7498Ter) c.22332T>A (p.Tyr7444Ter) c.20772T>A (p.Tyr6924Ter) c.20265T>A (p.Tyr6755Ter) c.15732T>A (p.Tyr5244Ter) c.22470T>A (p.Tyr7490Ter) c.22419T>A (p.Tyr7473Ter) | |
| 6 | g.152213646T>A | CA366099113 | SYNE1 | c.22460A>T (p.Tyr7487Phe) c.22247A>T (p.Tyr7416Phe) c.21245A>T (p.Tyr7082Phe) c.1226A>T (p.Tyr409Phe) n.6152A>T c.398A>T (p.Tyr133Phe) n.6044A>T c.22496A>T (p.Tyr7499Phe) c.22484A>T (p.Tyr7495Phe) c.22475A>T (p.Tyr7492Phe) c.22445A>T (p.Tyr7482Phe) c.22481A>T (p.Tyr7494Phe) c.22424A>T (p.Tyr7475Phe) c.22355A>T (p.Tyr7452Phe) c.22343A>T (p.Tyr7448Phe) c.22340A>T (p.Tyr7447Phe) c.22337A>T (p.Tyr7446Phe) c.22493A>T (p.Tyr7498Phe) c.22331A>T (p.Tyr7444Phe) c.20771A>T (p.Tyr6924Phe) c.20264A>T (p.Tyr6755Phe) c.15731A>T (p.Tyr5244Phe) c.22469A>T (p.Tyr7490Phe) c.22418A>T (p.Tyr7473Phe) | |
| 6 | g.152213646T>C | CA366099115 | SYNE1 | c.22460A>G (p.Tyr7487Cys) c.22247A>G (p.Tyr7416Cys) c.21245A>G (p.Tyr7082Cys) c.1226A>G (p.Tyr409Cys) n.6152A>G c.398A>G (p.Tyr133Cys) n.6044A>G c.22496A>G (p.Tyr7499Cys) c.22484A>G (p.Tyr7495Cys) c.22475A>G (p.Tyr7492Cys) c.22445A>G (p.Tyr7482Cys) c.22481A>G (p.Tyr7494Cys) c.22424A>G (p.Tyr7475Cys) c.22355A>G (p.Tyr7452Cys) c.22343A>G (p.Tyr7448Cys) c.22340A>G (p.Tyr7447Cys) c.22337A>G (p.Tyr7446Cys) c.22493A>G (p.Tyr7498Cys) c.22331A>G (p.Tyr7444Cys) c.20771A>G (p.Tyr6924Cys) c.20264A>G (p.Tyr6755Cys) c.15731A>G (p.Tyr5244Cys) c.22469A>G (p.Tyr7490Cys) c.22418A>G (p.Tyr7473Cys) | gnomAD v4 |
| 6 | g.152213646T>G | CA366099117 | SYNE1 | c.22460A>C (p.Tyr7487Ser) c.22247A>C (p.Tyr7416Ser) c.21245A>C (p.Tyr7082Ser) c.1226A>C (p.Tyr409Ser) n.6152A>C c.398A>C (p.Tyr133Ser) n.6044A>C c.22496A>C (p.Tyr7499Ser) c.22484A>C (p.Tyr7495Ser) c.22475A>C (p.Tyr7492Ser) c.22445A>C (p.Tyr7482Ser) c.22481A>C (p.Tyr7494Ser) c.22424A>C (p.Tyr7475Ser) c.22355A>C (p.Tyr7452Ser) c.22343A>C (p.Tyr7448Ser) c.22340A>C (p.Tyr7447Ser) c.22337A>C (p.Tyr7446Ser) c.22493A>C (p.Tyr7498Ser) c.22331A>C (p.Tyr7444Ser) c.20771A>C (p.Tyr6924Ser) c.20264A>C (p.Tyr6755Ser) c.15731A>C (p.Tyr5244Ser) c.22469A>C (p.Tyr7490Ser) c.22418A>C (p.Tyr7473Ser) | |
| 6 | g.152213647A>C | CA366099123 | SYNE1 | c.22459T>G (p.Tyr7487Asp) c.22246T>G (p.Tyr7416Asp) c.21244T>G (p.Tyr7082Asp) c.1225T>G (p.Tyr409Asp) n.6151T>G c.397T>G (p.Tyr133Asp) n.6043T>G c.22495T>G (p.Tyr7499Asp) c.22483T>G (p.Tyr7495Asp) c.22474T>G (p.Tyr7492Asp) c.22444T>G (p.Tyr7482Asp) c.22480T>G (p.Tyr7494Asp) c.22423T>G (p.Tyr7475Asp) c.22354T>G (p.Tyr7452Asp) c.22342T>G (p.Tyr7448Asp) c.22339T>G (p.Tyr7447Asp) c.22336T>G (p.Tyr7446Asp) c.22492T>G (p.Tyr7498Asp) c.22330T>G (p.Tyr7444Asp) c.20770T>G (p.Tyr6924Asp) c.20263T>G (p.Tyr6755Asp) c.15730T>G (p.Tyr5244Asp) c.22468T>G (p.Tyr7490Asp) c.22417T>G (p.Tyr7473Asp) | |
| 6 | g.152213647A>G | CA366099121 | SYNE1 | c.22459T>C (p.Tyr7487His) c.22246T>C (p.Tyr7416His) c.21244T>C (p.Tyr7082His) c.1225T>C (p.Tyr409His) n.6151T>C c.397T>C (p.Tyr133His) n.6043T>C c.22495T>C (p.Tyr7499His) c.22483T>C (p.Tyr7495His) c.22474T>C (p.Tyr7492His) c.22444T>C (p.Tyr7482His) c.22480T>C (p.Tyr7494His) c.22423T>C (p.Tyr7475His) c.22354T>C (p.Tyr7452His) c.22342T>C (p.Tyr7448His) c.22339T>C (p.Tyr7447His) c.22336T>C (p.Tyr7446His) c.22492T>C (p.Tyr7498His) c.22330T>C (p.Tyr7444His) c.20770T>C (p.Tyr6924His) c.20263T>C (p.Tyr6755His) c.15730T>C (p.Tyr5244His) c.22468T>C (p.Tyr7490His) c.22417T>C (p.Tyr7473His) | |
| 6 | g.152213647A>T | CA366099119 | SYNE1 | c.22459T>A (p.Tyr7487Asn) c.22246T>A (p.Tyr7416Asn) c.21244T>A (p.Tyr7082Asn) c.1225T>A (p.Tyr409Asn) n.6151T>A c.397T>A (p.Tyr133Asn) n.6043T>A c.22495T>A (p.Tyr7499Asn) c.22483T>A (p.Tyr7495Asn) c.22474T>A (p.Tyr7492Asn) c.22444T>A (p.Tyr7482Asn) c.22480T>A (p.Tyr7494Asn) c.22423T>A (p.Tyr7475Asn) c.22354T>A (p.Tyr7452Asn) c.22342T>A (p.Tyr7448Asn) c.22339T>A (p.Tyr7447Asn) c.22336T>A (p.Tyr7446Asn) c.22492T>A (p.Tyr7498Asn) c.22330T>A (p.Tyr7444Asn) c.20770T>A (p.Tyr6924Asn) c.20263T>A (p.Tyr6755Asn) c.15730T>A (p.Tyr5244Asn) c.22468T>A (p.Tyr7490Asn) c.22417T>A (p.Tyr7473Asn) | |
| 6 | g.152213648A= | CA1673241104 | SYNE1 | c.22458T= (p.Asn7486=) c.22245T= (p.Asn7415=) c.21243T= (p.Asn7081=) c.1224T= (p.Asn408=) n.6150T= c.396T= (p.Asn132=) n.6042T= c.22494T= (p.Asn7498=) c.22482T= (p.Asn7494=) c.22473T= (p.Asn7491=) c.22443T= (p.Asn7481=) c.22479T= (p.Asn7493=) c.22422T= (p.Asn7474=) c.22353T= (p.Asn7451=) c.22341T= (p.Asn7447=) c.22338T= (p.Asn7446=) c.22335T= (p.Asn7445=) c.22491T= (p.Asn7497=) c.22329T= (p.Asn7443=) c.20769T= (p.Asn6923=) c.20262T= (p.Asn6754=) c.15729T= (p.Asn5243=) c.22467T= (p.Asn7489=) c.22416T= (p.Asn7472=) | |
| 6 | g.152213648A>C | CA4053882 | SYNE1 | c.22458T>G (p.Asn7486Lys) c.22245T>G (p.Asn7415Lys) c.21243T>G (p.Asn7081Lys) c.1224T>G (p.Asn408Lys) n.6150T>G c.396T>G (p.Asn132Lys) n.6042T>G c.22494T>G (p.Asn7498Lys) c.22482T>G (p.Asn7494Lys) c.22473T>G (p.Asn7491Lys) c.22443T>G (p.Asn7481Lys) c.22479T>G (p.Asn7493Lys) c.22422T>G (p.Asn7474Lys) c.22353T>G (p.Asn7451Lys) c.22341T>G (p.Asn7447Lys) c.22338T>G (p.Asn7446Lys) c.22335T>G (p.Asn7445Lys) c.22491T>G (p.Asn7497Lys) c.22329T>G (p.Asn7443Lys) c.20769T>G (p.Asn6923Lys) c.20262T>G (p.Asn6754Lys) c.15729T>G (p.Asn5243Lys) c.22467T>G (p.Asn7489Lys) c.22416T>G (p.Asn7472Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152213648A>G | CA452748434 | SYNE1 | c.22458T>C (p.Asn7486=) c.22245T>C (p.Asn7415=) c.21243T>C (p.Asn7081=) c.1224T>C (p.Asn408=) n.6150T>C c.396T>C (p.Asn132=) n.6042T>C c.22494T>C (p.Asn7498=) c.22482T>C (p.Asn7494=) c.22473T>C (p.Asn7491=) c.22443T>C (p.Asn7481=) c.22479T>C (p.Asn7493=) c.22422T>C (p.Asn7474=) c.22353T>C (p.Asn7451=) c.22341T>C (p.Asn7447=) c.22338T>C (p.Asn7446=) c.22335T>C (p.Asn7445=) c.22491T>C (p.Asn7497=) c.22329T>C (p.Asn7443=) c.20769T>C (p.Asn6923=) c.20262T>C (p.Asn6754=) c.15729T>C (p.Asn5243=) c.22467T>C (p.Asn7489=) c.22416T>C (p.Asn7472=) | |
| 6 | g.152213648A>T | CA366099125 | SYNE1 | c.22458T>A (p.Asn7486Lys) c.22245T>A (p.Asn7415Lys) c.21243T>A (p.Asn7081Lys) c.1224T>A (p.Asn408Lys) n.6150T>A c.396T>A (p.Asn132Lys) n.6042T>A c.22494T>A (p.Asn7498Lys) c.22482T>A (p.Asn7494Lys) c.22473T>A (p.Asn7491Lys) c.22443T>A (p.Asn7481Lys) c.22479T>A (p.Asn7493Lys) c.22422T>A (p.Asn7474Lys) c.22353T>A (p.Asn7451Lys) c.22341T>A (p.Asn7447Lys) c.22338T>A (p.Asn7446Lys) c.22335T>A (p.Asn7445Lys) c.22491T>A (p.Asn7497Lys) c.22329T>A (p.Asn7443Lys) c.20769T>A (p.Asn6923Lys) c.20262T>A (p.Asn6754Lys) c.15729T>A (p.Asn5243Lys) c.22467T>A (p.Asn7489Lys) c.22416T>A (p.Asn7472Lys) | |
| 6 | g.152213649T>A | CA366099128 | SYNE1 | c.22457A>T (p.Asn7486Ile) c.22244A>T (p.Asn7415Ile) c.21242A>T (p.Asn7081Ile) c.1223A>T (p.Asn408Ile) n.6149A>T c.395A>T (p.Asn132Ile) n.6041A>T c.22493A>T (p.Asn7498Ile) c.22481A>T (p.Asn7494Ile) c.22472A>T (p.Asn7491Ile) c.22442A>T (p.Asn7481Ile) c.22478A>T (p.Asn7493Ile) c.22421A>T (p.Asn7474Ile) c.22352A>T (p.Asn7451Ile) c.22340A>T (p.Asn7447Ile) c.22337A>T (p.Asn7446Ile) c.22334A>T (p.Asn7445Ile) c.22490A>T (p.Asn7497Ile) c.22328A>T (p.Asn7443Ile) c.20768A>T (p.Asn6923Ile) c.20261A>T (p.Asn6754Ile) c.15728A>T (p.Asn5243Ile) c.22466A>T (p.Asn7489Ile) c.22415A>T (p.Asn7472Ile) | |
| 6 | g.152213649T>C | CA366099130 | SYNE1 | c.22457A>G (p.Asn7486Ser) c.22244A>G (p.Asn7415Ser) c.21242A>G (p.Asn7081Ser) c.1223A>G (p.Asn408Ser) n.6149A>G c.395A>G (p.Asn132Ser) n.6041A>G c.22493A>G (p.Asn7498Ser) c.22481A>G (p.Asn7494Ser) c.22472A>G (p.Asn7491Ser) c.22442A>G (p.Asn7481Ser) c.22478A>G (p.Asn7493Ser) c.22421A>G (p.Asn7474Ser) c.22352A>G (p.Asn7451Ser) c.22340A>G (p.Asn7447Ser) c.22337A>G (p.Asn7446Ser) c.22334A>G (p.Asn7445Ser) c.22490A>G (p.Asn7497Ser) c.22328A>G (p.Asn7443Ser) c.20768A>G (p.Asn6923Ser) c.20261A>G (p.Asn6754Ser) c.15728A>G (p.Asn5243Ser) c.22466A>G (p.Asn7489Ser) c.22415A>G (p.Asn7472Ser) | |
| 6 | g.152213649T>G | CA366099131 | SYNE1 | c.22457A>C (p.Asn7486Thr) c.22244A>C (p.Asn7415Thr) c.21242A>C (p.Asn7081Thr) c.1223A>C (p.Asn408Thr) n.6149A>C c.395A>C (p.Asn132Thr) n.6041A>C c.22493A>C (p.Asn7498Thr) c.22481A>C (p.Asn7494Thr) c.22472A>C (p.Asn7491Thr) c.22442A>C (p.Asn7481Thr) c.22478A>C (p.Asn7493Thr) c.22421A>C (p.Asn7474Thr) c.22352A>C (p.Asn7451Thr) c.22340A>C (p.Asn7447Thr) c.22337A>C (p.Asn7446Thr) c.22334A>C (p.Asn7445Thr) c.22490A>C (p.Asn7497Thr) c.22328A>C (p.Asn7443Thr) c.20768A>C (p.Asn6923Thr) c.20261A>C (p.Asn6754Thr) c.15728A>C (p.Asn5243Thr) c.22466A>C (p.Asn7489Thr) c.22415A>C (p.Asn7472Thr) | |
| 6 | g.152213650T>A | CA366099133 | SYNE1 | c.22456A>T (p.Asn7486Tyr) c.22243A>T (p.Asn7415Tyr) c.21241A>T (p.Asn7081Tyr) c.1222A>T (p.Asn408Tyr) n.6148A>T c.394A>T (p.Asn132Tyr) n.6040A>T c.22492A>T (p.Asn7498Tyr) c.22480A>T (p.Asn7494Tyr) c.22471A>T (p.Asn7491Tyr) c.22441A>T (p.Asn7481Tyr) c.22477A>T (p.Asn7493Tyr) c.22420A>T (p.Asn7474Tyr) c.22351A>T (p.Asn7451Tyr) c.22339A>T (p.Asn7447Tyr) c.22336A>T (p.Asn7446Tyr) c.22333A>T (p.Asn7445Tyr) c.22489A>T (p.Asn7497Tyr) c.22327A>T (p.Asn7443Tyr) c.20767A>T (p.Asn6923Tyr) c.20260A>T (p.Asn6754Tyr) c.15727A>T (p.Asn5243Tyr) c.22465A>T (p.Asn7489Tyr) c.22414A>T (p.Asn7472Tyr) | |
| 6 | g.152213650T>C | CA366099135 | SYNE1 | c.22456A>G (p.Asn7486Asp) c.22243A>G (p.Asn7415Asp) c.21241A>G (p.Asn7081Asp) c.1222A>G (p.Asn408Asp) n.6148A>G c.394A>G (p.Asn132Asp) n.6040A>G c.22492A>G (p.Asn7498Asp) c.22480A>G (p.Asn7494Asp) c.22471A>G (p.Asn7491Asp) c.22441A>G (p.Asn7481Asp) c.22477A>G (p.Asn7493Asp) c.22420A>G (p.Asn7474Asp) c.22351A>G (p.Asn7451Asp) c.22339A>G (p.Asn7447Asp) c.22336A>G (p.Asn7446Asp) c.22333A>G (p.Asn7445Asp) c.22489A>G (p.Asn7497Asp) c.22327A>G (p.Asn7443Asp) c.20767A>G (p.Asn6923Asp) c.20260A>G (p.Asn6754Asp) c.15727A>G (p.Asn5243Asp) c.22465A>G (p.Asn7489Asp) c.22414A>G (p.Asn7472Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152213650T>G | CA366099138 | SYNE1 | c.22456A>C (p.Asn7486His) c.22243A>C (p.Asn7415His) c.21241A>C (p.Asn7081His) c.1222A>C (p.Asn408His) n.6148A>C c.394A>C (p.Asn132His) n.6040A>C c.22492A>C (p.Asn7498His) c.22480A>C (p.Asn7494His) c.22471A>C (p.Asn7491His) c.22441A>C (p.Asn7481His) c.22477A>C (p.Asn7493His) c.22420A>C (p.Asn7474His) c.22351A>C (p.Asn7451His) c.22339A>C (p.Asn7447His) c.22336A>C (p.Asn7446His) c.22333A>C (p.Asn7445His) c.22489A>C (p.Asn7497His) c.22327A>C (p.Asn7443His) c.20767A>C (p.Asn6923His) c.20260A>C (p.Asn6754His) c.15727A>C (p.Asn5243His) c.22465A>C (p.Asn7489His) c.22414A>C (p.Asn7472His) | |
| 6 | g.152213651T>A | CA452748435 | SYNE1 | c.22455A>T (p.Gly7485=) c.22242A>T (p.Gly7414=) c.21240A>T (p.Gly7080=) c.1221A>T (p.Gly407=) n.6147A>T c.393A>T (p.Gly131=) n.6039A>T c.22491A>T (p.Gly7497=) c.22479A>T (p.Gly7493=) c.22470A>T (p.Gly7490=) c.22440A>T (p.Gly7480=) c.22476A>T (p.Gly7492=) c.22419A>T (p.Gly7473=) c.22350A>T (p.Gly7450=) c.22338A>T (p.Gly7446=) c.22335A>T (p.Gly7445=) c.22332A>T (p.Gly7444=) c.22488A>T (p.Gly7496=) c.22326A>T (p.Gly7442=) c.20766A>T (p.Gly6922=) c.20259A>T (p.Gly6753=) c.15726A>T (p.Gly5242=) c.22464A>T (p.Gly7488=) c.22413A>T (p.Gly7471=) | |
| 6 | g.152213651T>C | CA452748437 | SYNE1 | c.22455A>G (p.Gly7485=) c.22242A>G (p.Gly7414=) c.21240A>G (p.Gly7080=) c.1221A>G (p.Gly407=) n.6147A>G c.393A>G (p.Gly131=) n.6039A>G c.22491A>G (p.Gly7497=) c.22479A>G (p.Gly7493=) c.22470A>G (p.Gly7490=) c.22440A>G (p.Gly7480=) c.22476A>G (p.Gly7492=) c.22419A>G (p.Gly7473=) c.22350A>G (p.Gly7450=) c.22338A>G (p.Gly7446=) c.22335A>G (p.Gly7445=) c.22332A>G (p.Gly7444=) c.22488A>G (p.Gly7496=) c.22326A>G (p.Gly7442=) c.20766A>G (p.Gly6922=) c.20259A>G (p.Gly6753=) c.15726A>G (p.Gly5242=) c.22464A>G (p.Gly7488=) c.22413A>G (p.Gly7471=) | |
| 6 | g.152213651T>G | CA452748436 | SYNE1 | c.22455A>C (p.Gly7485=) c.22242A>C (p.Gly7414=) c.21240A>C (p.Gly7080=) c.1221A>C (p.Gly407=) n.6147A>C c.393A>C (p.Gly131=) n.6039A>C c.22491A>C (p.Gly7497=) c.22479A>C (p.Gly7493=) c.22470A>C (p.Gly7490=) c.22440A>C (p.Gly7480=) c.22476A>C (p.Gly7492=) c.22419A>C (p.Gly7473=) c.22350A>C (p.Gly7450=) c.22338A>C (p.Gly7446=) c.22335A>C (p.Gly7445=) c.22332A>C (p.Gly7444=) c.22488A>C (p.Gly7496=) c.22326A>C (p.Gly7442=) c.20766A>C (p.Gly6922=) c.20259A>C (p.Gly6753=) c.15726A>C (p.Gly5242=) c.22464A>C (p.Gly7488=) c.22413A>C (p.Gly7471=) |