Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152213646T>ACA366099113SYNE1c.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)
6g.152213646T>CCA366099115SYNE1c.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
6g.152213646T>GCA366099117SYNE1c.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)
6g.152213647A>CCA366099123SYNE1c.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)
6g.152213647A>GCA366099121SYNE1c.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)
6g.152213647A>TCA366099119SYNE1c.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)
6g.152213648A=CA1673241104SYNE1c.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=)
6g.152213648A>CCA4053882SYNE1c.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
6g.152213648A>GCA452748434SYNE1c.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=)
6g.152213648A>TCA366099125SYNE1c.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)
6g.152213649T>ACA366099128SYNE1c.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)
6g.152213649T>CCA366099130SYNE1c.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)
6g.152213649T>GCA366099131SYNE1c.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)
6g.152213650T>ACA366099133SYNE1c.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)
6g.152213650T>CCA366099135SYNE1c.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
6g.152213650T>GCA366099138SYNE1c.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)
6g.152213651T>ACA452748435SYNE1c.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=)
6g.152213651T>CCA452748437SYNE1c.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=)
6g.152213651T>GCA452748436SYNE1c.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=)
6g.152213652C>ACA366099140SYNE1c.22454G>T (p.Gly7485Val)
c.22241G>T (p.Gly7414Val)
c.21239G>T (p.Gly7080Val)
c.1220G>T (p.Gly407Val)
n.6146G>T
c.392G>T (p.Gly131Val)
n.6038G>T
c.22490G>T (p.Gly7497Val)
c.22478G>T (p.Gly7493Val)
c.22469G>T (p.Gly7490Val)
c.22439G>T (p.Gly7480Val)
c.22475G>T (p.Gly7492Val)
c.22418G>T (p.Gly7473Val)
c.22349G>T (p.Gly7450Val)
c.22337G>T (p.Gly7446Val)
c.22334G>T (p.Gly7445Val)
c.22331G>T (p.Gly7444Val)
c.22487G>T (p.Gly7496Val)
c.22325G>T (p.Gly7442Val)
c.20765G>T (p.Gly6922Val)
c.20258G>T (p.Gly6753Val)
c.15725G>T (p.Gly5242Val)
c.22463G>T (p.Gly7488Val)
c.22412G>T (p.Gly7471Val)
6g.152213652C>GCA366099147SYNE1c.22454G>C (p.Gly7485Ala)
c.22241G>C (p.Gly7414Ala)
c.21239G>C (p.Gly7080Ala)
c.1220G>C (p.Gly407Ala)
n.6146G>C
c.392G>C (p.Gly131Ala)
n.6038G>C
c.22490G>C (p.Gly7497Ala)
c.22478G>C (p.Gly7493Ala)
c.22469G>C (p.Gly7490Ala)
c.22439G>C (p.Gly7480Ala)
c.22475G>C (p.Gly7492Ala)
c.22418G>C (p.Gly7473Ala)
c.22349G>C (p.Gly7450Ala)
c.22337G>C (p.Gly7446Ala)
c.22334G>C (p.Gly7445Ala)
c.22331G>C (p.Gly7444Ala)
c.22487G>C (p.Gly7496Ala)
c.22325G>C (p.Gly7442Ala)
c.20765G>C (p.Gly6922Ala)
c.20258G>C (p.Gly6753Ala)
c.15725G>C (p.Gly5242Ala)
c.22463G>C (p.Gly7488Ala)
c.22412G>C (p.Gly7471Ala)
6g.152213652C>TCA366099142SYNE1c.22454G>A (p.Gly7485Glu)
c.22241G>A (p.Gly7414Glu)
c.21239G>A (p.Gly7080Glu)
c.1220G>A (p.Gly407Glu)
n.6146G>A
c.392G>A (p.Gly131Glu)
n.6038G>A
c.22490G>A (p.Gly7497Glu)
c.22478G>A (p.Gly7493Glu)
c.22469G>A (p.Gly7490Glu)
c.22439G>A (p.Gly7480Glu)
c.22475G>A (p.Gly7492Glu)
c.22418G>A (p.Gly7473Glu)
c.22349G>A (p.Gly7450Glu)
c.22337G>A (p.Gly7446Glu)
c.22334G>A (p.Gly7445Glu)
c.22331G>A (p.Gly7444Glu)
c.22487G>A (p.Gly7496Glu)
c.22325G>A (p.Gly7442Glu)
c.20765G>A (p.Gly6922Glu)
c.20258G>A (p.Gly6753Glu)
c.15725G>A (p.Gly5242Glu)
c.22463G>A (p.Gly7488Glu)
c.22412G>A (p.Gly7471Glu)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213653C>ACA366099149SYNE1c.22453G>T (p.Gly7485Ter)
c.22240G>T (p.Gly7414Ter)
c.21238G>T (p.Gly7080Ter)
c.1219G>T (p.Gly407Ter)
n.6145G>T
c.391G>T (p.Gly131Ter)
n.6037G>T
c.22489G>T (p.Gly7497Ter)
c.22477G>T (p.Gly7493Ter)
c.22468G>T (p.Gly7490Ter)
c.22438G>T (p.Gly7480Ter)
c.22474G>T (p.Gly7492Ter)
c.22417G>T (p.Gly7473Ter)
c.22348G>T (p.Gly7450Ter)
c.22336G>T (p.Gly7446Ter)
c.22333G>T (p.Gly7445Ter)
c.22330G>T (p.Gly7444Ter)
c.22486G>T (p.Gly7496Ter)
c.22324G>T (p.Gly7442Ter)
c.20764G>T (p.Gly6922Ter)
c.20257G>T (p.Gly6753Ter)
c.15724G>T (p.Gly5242Ter)
c.22462G>T (p.Gly7488Ter)
c.22411G>T (p.Gly7471Ter)
6g.152213653C>GCA366099151SYNE1c.22453G>C (p.Gly7485Arg)
c.22240G>C (p.Gly7414Arg)
c.21238G>C (p.Gly7080Arg)
c.1219G>C (p.Gly407Arg)
n.6145G>C
c.391G>C (p.Gly131Arg)
n.6037G>C
c.22489G>C (p.Gly7497Arg)
c.22477G>C (p.Gly7493Arg)
c.22468G>C (p.Gly7490Arg)
c.22438G>C (p.Gly7480Arg)
c.22474G>C (p.Gly7492Arg)
c.22417G>C (p.Gly7473Arg)
c.22348G>C (p.Gly7450Arg)
c.22336G>C (p.Gly7446Arg)
c.22333G>C (p.Gly7445Arg)
c.22330G>C (p.Gly7444Arg)
c.22486G>C (p.Gly7496Arg)
c.22324G>C (p.Gly7442Arg)
c.20764G>C (p.Gly6922Arg)
c.20257G>C (p.Gly6753Arg)
c.15724G>C (p.Gly5242Arg)
c.22462G>C (p.Gly7488Arg)
c.22411G>C (p.Gly7471Arg)
6g.152213653C>TCA366099153SYNE1c.22453G>A (p.Gly7485Arg)
c.22240G>A (p.Gly7414Arg)
c.21238G>A (p.Gly7080Arg)
c.1219G>A (p.Gly407Arg)
n.6145G>A
c.391G>A (p.Gly131Arg)
n.6037G>A
c.22489G>A (p.Gly7497Arg)
c.22477G>A (p.Gly7493Arg)
c.22468G>A (p.Gly7490Arg)
c.22438G>A (p.Gly7480Arg)
c.22474G>A (p.Gly7492Arg)
c.22417G>A (p.Gly7473Arg)
c.22348G>A (p.Gly7450Arg)
c.22336G>A (p.Gly7446Arg)
c.22333G>A (p.Gly7445Arg)
c.22330G>A (p.Gly7444Arg)
c.22486G>A (p.Gly7496Arg)
c.22324G>A (p.Gly7442Arg)
c.20764G>A (p.Gly6922Arg)
c.20257G>A (p.Gly6753Arg)
c.15724G>A (p.Gly5242Arg)
c.22462G>A (p.Gly7488Arg)
c.22411G>A (p.Gly7471Arg)
6g.152213654T>ACA452748438SYNE1c.22452A>T (p.Ser7484=)
c.22239A>T (p.Ser7413=)
c.21237A>T (p.Ser7079=)
c.1218A>T (p.Ser406=)
n.6144A>T
c.390A>T (p.Ser130=)
n.6036A>T
c.22488A>T (p.Ser7496=)
c.22476A>T (p.Ser7492=)
c.22467A>T (p.Ser7489=)
c.22437A>T (p.Ser7479=)
c.22473A>T (p.Ser7491=)
c.22416A>T (p.Ser7472=)
c.22347A>T (p.Ser7449=)
c.22335A>T (p.Ser7445=)
c.22332A>T (p.Ser7444=)
c.22329A>T (p.Ser7443=)
c.22485A>T (p.Ser7495=)
c.22323A>T (p.Ser7441=)
c.20763A>T (p.Ser6921=)
c.20256A>T (p.Ser6752=)
c.15723A>T (p.Ser5241=)
c.22461A>T (p.Ser7487=)
c.22410A>T (p.Ser7470=)
6g.152213654T>CCA155407SYNE1c.22452A>G (p.Ser7484=)
c.22239A>G (p.Ser7413=)
c.21237A>G (p.Ser7079=)
c.1218A>G (p.Ser406=)
n.6144A>G
c.390A>G (p.Ser130=)
n.6036A>G
c.22488A>G (p.Ser7496=)
c.22476A>G (p.Ser7492=)
c.22467A>G (p.Ser7489=)
c.22437A>G (p.Ser7479=)
c.22473A>G (p.Ser7491=)
c.22416A>G (p.Ser7472=)
c.22347A>G (p.Ser7449=)
c.22335A>G (p.Ser7445=)
c.22332A>G (p.Ser7444=)
c.22329A>G (p.Ser7443=)
c.22485A>G (p.Ser7495=)
c.22323A>G (p.Ser7441=)
c.20763A>G (p.Ser6921=)
c.20256A>G (p.Ser6752=)
c.15723A>G (p.Ser5241=)
c.22461A>G (p.Ser7487=)
c.22410A>G (p.Ser7470=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213654T>GCA452748439SYNE1c.22452A>C (p.Ser7484=)
c.22239A>C (p.Ser7413=)
c.21237A>C (p.Ser7079=)
c.1218A>C (p.Ser406=)
n.6144A>C
c.390A>C (p.Ser130=)
n.6036A>C
c.22488A>C (p.Ser7496=)
c.22476A>C (p.Ser7492=)
c.22467A>C (p.Ser7489=)
c.22437A>C (p.Ser7479=)
c.22473A>C (p.Ser7491=)
c.22416A>C (p.Ser7472=)
c.22347A>C (p.Ser7449=)
c.22335A>C (p.Ser7445=)
c.22332A>C (p.Ser7444=)
c.22329A>C (p.Ser7443=)
c.22485A>C (p.Ser7495=)
c.22323A>C (p.Ser7441=)
c.20763A>C (p.Ser6921=)
c.20256A>C (p.Ser6752=)
c.15723A>C (p.Ser5241=)
c.22461A>C (p.Ser7487=)
c.22410A>C (p.Ser7470=)
6g.152213654T=CA1673241105SYNE1c.22452A= (p.Ser7484=)
c.22239A= (p.Ser7413=)
c.21237A= (p.Ser7079=)
c.1218A= (p.Ser406=)
n.6144A=
c.390A= (p.Ser130=)
n.6036A=
c.22488A= (p.Ser7496=)
c.22476A= (p.Ser7492=)
c.22467A= (p.Ser7489=)
c.22437A= (p.Ser7479=)
c.22473A= (p.Ser7491=)
c.22416A= (p.Ser7472=)
c.22347A= (p.Ser7449=)
c.22335A= (p.Ser7445=)
c.22332A= (p.Ser7444=)
c.22329A= (p.Ser7443=)
c.22485A= (p.Ser7495=)
c.22323A= (p.Ser7441=)
c.20763A= (p.Ser6921=)
c.20256A= (p.Ser6752=)
c.15723A= (p.Ser5241=)
c.22461A= (p.Ser7487=)
c.22410A= (p.Ser7470=)
6g.152213655G>ACA366099157SYNE1c.22451C>T (p.Ser7484Leu)
c.22238C>T (p.Ser7413Leu)
c.21236C>T (p.Ser7079Leu)
c.1217C>T (p.Ser406Leu)
n.6143C>T
c.389C>T (p.Ser130Leu)
n.6035C>T
c.22487C>T (p.Ser7496Leu)
c.22475C>T (p.Ser7492Leu)
c.22466C>T (p.Ser7489Leu)
c.22436C>T (p.Ser7479Leu)
c.22472C>T (p.Ser7491Leu)
c.22415C>T (p.Ser7472Leu)
c.22346C>T (p.Ser7449Leu)
c.22334C>T (p.Ser7445Leu)
c.22331C>T (p.Ser7444Leu)
c.22328C>T (p.Ser7443Leu)
c.22484C>T (p.Ser7495Leu)
c.22322C>T (p.Ser7441Leu)
c.20762C>T (p.Ser6921Leu)
c.20255C>T (p.Ser6752Leu)
c.15722C>T (p.Ser5241Leu)
c.22460C>T (p.Ser7487Leu)
c.22409C>T (p.Ser7470Leu)
6g.152213655G>CCA366099160SYNE1c.22451C>G (p.Ser7484Ter)
c.22238C>G (p.Ser7413Ter)
c.21236C>G (p.Ser7079Ter)
c.1217C>G (p.Ser406Ter)
n.6143C>G
c.389C>G (p.Ser130Ter)
n.6035C>G
c.22487C>G (p.Ser7496Ter)
c.22475C>G (p.Ser7492Ter)
c.22466C>G (p.Ser7489Ter)
c.22436C>G (p.Ser7479Ter)
c.22472C>G (p.Ser7491Ter)
c.22415C>G (p.Ser7472Ter)
c.22346C>G (p.Ser7449Ter)
c.22334C>G (p.Ser7445Ter)
c.22331C>G (p.Ser7444Ter)
c.22328C>G (p.Ser7443Ter)
c.22484C>G (p.Ser7495Ter)
c.22322C>G (p.Ser7441Ter)
c.20762C>G (p.Ser6921Ter)
c.20255C>G (p.Ser6752Ter)
c.15722C>G (p.Ser5241Ter)
c.22460C>G (p.Ser7487Ter)
c.22409C>G (p.Ser7470Ter)
6g.152213655G>TCA366099158SYNE1c.22451C>A (p.Ser7484Ter)
c.22238C>A (p.Ser7413Ter)
c.21236C>A (p.Ser7079Ter)
c.1217C>A (p.Ser406Ter)
n.6143C>A
c.389C>A (p.Ser130Ter)
n.6035C>A
c.22487C>A (p.Ser7496Ter)
c.22475C>A (p.Ser7492Ter)
c.22466C>A (p.Ser7489Ter)
c.22436C>A (p.Ser7479Ter)
c.22472C>A (p.Ser7491Ter)
c.22415C>A (p.Ser7472Ter)
c.22346C>A (p.Ser7449Ter)
c.22334C>A (p.Ser7445Ter)
c.22331C>A (p.Ser7444Ter)
c.22328C>A (p.Ser7443Ter)
c.22484C>A (p.Ser7495Ter)
c.22322C>A (p.Ser7441Ter)
c.20762C>A (p.Ser6921Ter)
c.20255C>A (p.Ser6752Ter)
c.15722C>A (p.Ser5241Ter)
c.22460C>A (p.Ser7487Ter)
c.22409C>A (p.Ser7470Ter)
6g.152213656A>CCA366099163SYNE1c.22450T>G (p.Ser7484Ala)
c.22237T>G (p.Ser7413Ala)
c.21235T>G (p.Ser7079Ala)
c.1216T>G (p.Ser406Ala)
n.6142T>G
c.388T>G (p.Ser130Ala)
n.6034T>G
c.22486T>G (p.Ser7496Ala)
c.22474T>G (p.Ser7492Ala)
c.22465T>G (p.Ser7489Ala)
c.22435T>G (p.Ser7479Ala)
c.22471T>G (p.Ser7491Ala)
c.22414T>G (p.Ser7472Ala)
c.22345T>G (p.Ser7449Ala)
c.22333T>G (p.Ser7445Ala)
c.22330T>G (p.Ser7444Ala)
c.22327T>G (p.Ser7443Ala)
c.22483T>G (p.Ser7495Ala)
c.22321T>G (p.Ser7441Ala)
c.20761T>G (p.Ser6921Ala)
c.20254T>G (p.Ser6752Ala)
c.15721T>G (p.Ser5241Ala)
c.22459T>G (p.Ser7487Ala)
c.22408T>G (p.Ser7470Ala)
6g.152213656A>GCA366099164SYNE1c.22450T>C (p.Ser7484Pro)
c.22237T>C (p.Ser7413Pro)
c.21235T>C (p.Ser7079Pro)
c.1216T>C (p.Ser406Pro)
n.6142T>C
c.388T>C (p.Ser130Pro)
n.6034T>C
c.22486T>C (p.Ser7496Pro)
c.22474T>C (p.Ser7492Pro)
c.22465T>C (p.Ser7489Pro)
c.22435T>C (p.Ser7479Pro)
c.22471T>C (p.Ser7491Pro)
c.22414T>C (p.Ser7472Pro)
c.22345T>C (p.Ser7449Pro)
c.22333T>C (p.Ser7445Pro)
c.22330T>C (p.Ser7444Pro)
c.22327T>C (p.Ser7443Pro)
c.22483T>C (p.Ser7495Pro)
c.22321T>C (p.Ser7441Pro)
c.20761T>C (p.Ser6921Pro)
c.20254T>C (p.Ser6752Pro)
c.15721T>C (p.Ser5241Pro)
c.22459T>C (p.Ser7487Pro)
c.22408T>C (p.Ser7470Pro)
6g.152213656A>TCA366099166SYNE1c.22450T>A (p.Ser7484Thr)
c.22237T>A (p.Ser7413Thr)
c.21235T>A (p.Ser7079Thr)
c.1216T>A (p.Ser406Thr)
n.6142T>A
c.388T>A (p.Ser130Thr)
n.6034T>A
c.22486T>A (p.Ser7496Thr)
c.22474T>A (p.Ser7492Thr)
c.22465T>A (p.Ser7489Thr)
c.22435T>A (p.Ser7479Thr)
c.22471T>A (p.Ser7491Thr)
c.22414T>A (p.Ser7472Thr)
c.22345T>A (p.Ser7449Thr)
c.22333T>A (p.Ser7445Thr)
c.22330T>A (p.Ser7444Thr)
c.22327T>A (p.Ser7443Thr)
c.22483T>A (p.Ser7495Thr)
c.22321T>A (p.Ser7441Thr)
c.20761T>A (p.Ser6921Thr)
c.20254T>A (p.Ser6752Thr)
c.15721T>A (p.Ser5241Thr)
c.22459T>A (p.Ser7487Thr)
c.22408T>A (p.Ser7470Thr)
6g.152213657A>CCA366099168SYNE1c.22449T>G (p.Ile7483Met)
c.22236T>G (p.Ile7412Met)
c.21234T>G (p.Ile7078Met)
c.1215T>G (p.Ile405Met)
n.6141T>G
c.387T>G (p.Ile129Met)
n.6033T>G
c.22485T>G (p.Ile7495Met)
c.22473T>G (p.Ile7491Met)
c.22464T>G (p.Ile7488Met)
c.22434T>G (p.Ile7478Met)
c.22470T>G (p.Ile7490Met)
c.22413T>G (p.Ile7471Met)
c.22344T>G (p.Ile7448Met)
c.22332T>G (p.Ile7444Met)
c.22329T>G (p.Ile7443Met)
c.22326T>G (p.Ile7442Met)
c.22482T>G (p.Ile7494Met)
c.22320T>G (p.Ile7440Met)
c.20760T>G (p.Ile6920Met)
c.20253T>G (p.Ile6751Met)
c.15720T>G (p.Ile5240Met)
c.22458T>G (p.Ile7486Met)
c.22407T>G (p.Ile7469Met)
6g.152213657A>GCA452748440SYNE1c.22449T>C (p.Ile7483=)
c.22236T>C (p.Ile7412=)
c.21234T>C (p.Ile7078=)
c.1215T>C (p.Ile405=)
n.6141T>C
c.387T>C (p.Ile129=)
n.6033T>C
c.22485T>C (p.Ile7495=)
c.22473T>C (p.Ile7491=)
c.22464T>C (p.Ile7488=)
c.22434T>C (p.Ile7478=)
c.22470T>C (p.Ile7490=)
c.22413T>C (p.Ile7471=)
c.22344T>C (p.Ile7448=)
c.22332T>C (p.Ile7444=)
c.22329T>C (p.Ile7443=)
c.22326T>C (p.Ile7442=)
c.22482T>C (p.Ile7494=)
c.22320T>C (p.Ile7440=)
c.20760T>C (p.Ile6920=)
c.20253T>C (p.Ile6751=)
c.15720T>C (p.Ile5240=)
c.22458T>C (p.Ile7486=)
c.22407T>C (p.Ile7469=)
6g.152213657A>TCA452748441SYNE1c.22449T>A (p.Ile7483=)
c.22236T>A (p.Ile7412=)
c.21234T>A (p.Ile7078=)
c.1215T>A (p.Ile405=)
n.6141T>A
c.387T>A (p.Ile129=)
n.6033T>A
c.22485T>A (p.Ile7495=)
c.22473T>A (p.Ile7491=)
c.22464T>A (p.Ile7488=)
c.22434T>A (p.Ile7478=)
c.22470T>A (p.Ile7490=)
c.22413T>A (p.Ile7471=)
c.22344T>A (p.Ile7448=)
c.22332T>A (p.Ile7444=)
c.22329T>A (p.Ile7443=)
c.22326T>A (p.Ile7442=)
c.22482T>A (p.Ile7494=)
c.22320T>A (p.Ile7440=)
c.20760T>A (p.Ile6920=)
c.20253T>A (p.Ile6751=)
c.15720T>A (p.Ile5240=)
c.22458T>A (p.Ile7486=)
c.22407T>A (p.Ile7469=)
6g.152213658A>CCA366099170SYNE1c.22448T>G (p.Ile7483Ser)
c.22235T>G (p.Ile7412Ser)
c.21233T>G (p.Ile7078Ser)
c.1214T>G (p.Ile405Ser)
n.6140T>G
c.386T>G (p.Ile129Ser)
n.6032T>G
c.22484T>G (p.Ile7495Ser)
c.22472T>G (p.Ile7491Ser)
c.22463T>G (p.Ile7488Ser)
c.22433T>G (p.Ile7478Ser)
c.22469T>G (p.Ile7490Ser)
c.22412T>G (p.Ile7471Ser)
c.22343T>G (p.Ile7448Ser)
c.22331T>G (p.Ile7444Ser)
c.22328T>G (p.Ile7443Ser)
c.22325T>G (p.Ile7442Ser)
c.22481T>G (p.Ile7494Ser)
c.22319T>G (p.Ile7440Ser)
c.20759T>G (p.Ile6920Ser)
c.20252T>G (p.Ile6751Ser)
c.15719T>G (p.Ile5240Ser)
c.22457T>G (p.Ile7486Ser)
c.22406T>G (p.Ile7469Ser)
 gnomAD v4
6g.152213658A>GCA366099172SYNE1c.22448T>C (p.Ile7483Thr)
c.22235T>C (p.Ile7412Thr)
c.21233T>C (p.Ile7078Thr)
c.1214T>C (p.Ile405Thr)
n.6140T>C
c.386T>C (p.Ile129Thr)
n.6032T>C
c.22484T>C (p.Ile7495Thr)
c.22472T>C (p.Ile7491Thr)
c.22463T>C (p.Ile7488Thr)
c.22433T>C (p.Ile7478Thr)
c.22469T>C (p.Ile7490Thr)
c.22412T>C (p.Ile7471Thr)
c.22343T>C (p.Ile7448Thr)
c.22331T>C (p.Ile7444Thr)
c.22328T>C (p.Ile7443Thr)
c.22325T>C (p.Ile7442Thr)
c.22481T>C (p.Ile7494Thr)
c.22319T>C (p.Ile7440Thr)
c.20759T>C (p.Ile6920Thr)
c.20252T>C (p.Ile6751Thr)
c.15719T>C (p.Ile5240Thr)
c.22457T>C (p.Ile7486Thr)
c.22406T>C (p.Ile7469Thr)
6g.152213658A>TCA366099174SYNE1c.22448T>A (p.Ile7483Asn)
c.22235T>A (p.Ile7412Asn)
c.21233T>A (p.Ile7078Asn)
c.1214T>A (p.Ile405Asn)
n.6140T>A
c.386T>A (p.Ile129Asn)
n.6032T>A
c.22484T>A (p.Ile7495Asn)
c.22472T>A (p.Ile7491Asn)
c.22463T>A (p.Ile7488Asn)
c.22433T>A (p.Ile7478Asn)
c.22469T>A (p.Ile7490Asn)
c.22412T>A (p.Ile7471Asn)
c.22343T>A (p.Ile7448Asn)
c.22331T>A (p.Ile7444Asn)
c.22328T>A (p.Ile7443Asn)
c.22325T>A (p.Ile7442Asn)
c.22481T>A (p.Ile7494Asn)
c.22319T>A (p.Ile7440Asn)
c.20759T>A (p.Ile6920Asn)
c.20252T>A (p.Ile6751Asn)
c.15719T>A (p.Ile5240Asn)
c.22457T>A (p.Ile7486Asn)
c.22406T>A (p.Ile7469Asn)
6g.152213659T>ACA366099175SYNE1c.22447A>T (p.Ile7483Phe)
c.22234A>T (p.Ile7412Phe)
c.21232A>T (p.Ile7078Phe)
c.1213A>T (p.Ile405Phe)
n.6139A>T
c.385A>T (p.Ile129Phe)
n.6031A>T
c.22483A>T (p.Ile7495Phe)
c.22471A>T (p.Ile7491Phe)
c.22462A>T (p.Ile7488Phe)
c.22432A>T (p.Ile7478Phe)
c.22468A>T (p.Ile7490Phe)
c.22411A>T (p.Ile7471Phe)
c.22342A>T (p.Ile7448Phe)
c.22330A>T (p.Ile7444Phe)
c.22327A>T (p.Ile7443Phe)
c.22324A>T (p.Ile7442Phe)
c.22480A>T (p.Ile7494Phe)
c.22318A>T (p.Ile7440Phe)
c.20758A>T (p.Ile6920Phe)
c.20251A>T (p.Ile6751Phe)
c.15718A>T (p.Ile5240Phe)
c.22456A>T (p.Ile7486Phe)
c.22405A>T (p.Ile7469Phe)
 gnomAD v4
6g.152213659T>CCA366099176SYNE1c.22447A>G (p.Ile7483Val)
c.22234A>G (p.Ile7412Val)
c.21232A>G (p.Ile7078Val)
c.1213A>G (p.Ile405Val)
n.6139A>G
c.385A>G (p.Ile129Val)
n.6031A>G
c.22483A>G (p.Ile7495Val)
c.22471A>G (p.Ile7491Val)
c.22462A>G (p.Ile7488Val)
c.22432A>G (p.Ile7478Val)
c.22468A>G (p.Ile7490Val)
c.22411A>G (p.Ile7471Val)
c.22342A>G (p.Ile7448Val)
c.22330A>G (p.Ile7444Val)
c.22327A>G (p.Ile7443Val)
c.22324A>G (p.Ile7442Val)
c.22480A>G (p.Ile7494Val)
c.22318A>G (p.Ile7440Val)
c.20758A>G (p.Ile6920Val)
c.20251A>G (p.Ile6751Val)
c.15718A>G (p.Ile5240Val)
c.22456A>G (p.Ile7486Val)
c.22405A>G (p.Ile7469Val)
6g.152213659T>GCA366099178SYNE1c.22447A>C (p.Ile7483Leu)
c.22234A>C (p.Ile7412Leu)
c.21232A>C (p.Ile7078Leu)
c.1213A>C (p.Ile405Leu)
n.6139A>C
c.385A>C (p.Ile129Leu)
n.6031A>C
c.22483A>C (p.Ile7495Leu)
c.22471A>C (p.Ile7491Leu)
c.22462A>C (p.Ile7488Leu)
c.22432A>C (p.Ile7478Leu)
c.22468A>C (p.Ile7490Leu)
c.22411A>C (p.Ile7471Leu)
c.22342A>C (p.Ile7448Leu)
c.22330A>C (p.Ile7444Leu)
c.22327A>C (p.Ile7443Leu)
c.22324A>C (p.Ile7442Leu)
c.22480A>C (p.Ile7494Leu)
c.22318A>C (p.Ile7440Leu)
c.20758A>C (p.Ile6920Leu)
c.20251A>C (p.Ile6751Leu)
c.15718A>C (p.Ile5240Leu)
c.22456A>C (p.Ile7486Leu)
c.22405A>C (p.Ile7469Leu)
6g.152213660C>ACA366099179SYNE1c.22446G>T (p.Glu7482Asp)
c.22233G>T (p.Glu7411Asp)
c.21231G>T (p.Glu7077Asp)
c.1212G>T (p.Glu404Asp)
n.6138G>T
c.384G>T (p.Glu128Asp)
n.6030G>T
c.22482G>T (p.Glu7494Asp)
c.22470G>T (p.Glu7490Asp)
c.22461G>T (p.Glu7487Asp)
c.22431G>T (p.Glu7477Asp)
c.22467G>T (p.Glu7489Asp)
c.22410G>T (p.Glu7470Asp)
c.22341G>T (p.Glu7447Asp)
c.22329G>T (p.Glu7443Asp)
c.22326G>T (p.Glu7442Asp)
c.22323G>T (p.Glu7441Asp)
c.22479G>T (p.Glu7493Asp)
c.22317G>T (p.Glu7439Asp)
c.20757G>T (p.Glu6919Asp)
c.20250G>T (p.Glu6750Asp)
c.15717G>T (p.Glu5239Asp)
c.22455G>T (p.Glu7485Asp)
c.22404G>T (p.Glu7468Asp)
6g.152213660C>GCA366099181SYNE1c.22446G>C (p.Glu7482Asp)
c.22233G>C (p.Glu7411Asp)
c.21231G>C (p.Glu7077Asp)
c.1212G>C (p.Glu404Asp)
n.6138G>C
c.384G>C (p.Glu128Asp)
n.6030G>C
c.22482G>C (p.Glu7494Asp)
c.22470G>C (p.Glu7490Asp)
c.22461G>C (p.Glu7487Asp)
c.22431G>C (p.Glu7477Asp)
c.22467G>C (p.Glu7489Asp)
c.22410G>C (p.Glu7470Asp)
c.22341G>C (p.Glu7447Asp)
c.22329G>C (p.Glu7443Asp)
c.22326G>C (p.Glu7442Asp)
c.22323G>C (p.Glu7441Asp)
c.22479G>C (p.Glu7493Asp)
c.22317G>C (p.Glu7439Asp)
c.20757G>C (p.Glu6919Asp)
c.20250G>C (p.Glu6750Asp)
c.15717G>C (p.Glu5239Asp)
c.22455G>C (p.Glu7485Asp)
c.22404G>C (p.Glu7468Asp)
6g.152213660C>TCA452748442SYNE1c.22446G>A (p.Glu7482=)
c.22233G>A (p.Glu7411=)
c.21231G>A (p.Glu7077=)
c.1212G>A (p.Glu404=)
n.6138G>A
c.384G>A (p.Glu128=)
n.6030G>A
c.22482G>A (p.Glu7494=)
c.22470G>A (p.Glu7490=)
c.22461G>A (p.Glu7487=)
c.22431G>A (p.Glu7477=)
c.22467G>A (p.Glu7489=)
c.22410G>A (p.Glu7470=)
c.22341G>A (p.Glu7447=)
c.22329G>A (p.Glu7443=)
c.22326G>A (p.Glu7442=)
c.22323G>A (p.Glu7441=)
c.22479G>A (p.Glu7493=)
c.22317G>A (p.Glu7439=)
c.20757G>A (p.Glu6919=)
c.20250G>A (p.Glu6750=)
c.15717G>A (p.Glu5239=)
c.22455G>A (p.Glu7485=)
c.22404G>A (p.Glu7468=)
6g.152213661T>ACA366099183SYNE1c.22445A>T (p.Glu7482Val)
c.22232A>T (p.Glu7411Val)
c.21230A>T (p.Glu7077Val)
c.1211A>T (p.Glu404Val)
n.6137A>T
c.383A>T (p.Glu128Val)
n.6029A>T
c.22481A>T (p.Glu7494Val)
c.22469A>T (p.Glu7490Val)
c.22460A>T (p.Glu7487Val)
c.22430A>T (p.Glu7477Val)
c.22466A>T (p.Glu7489Val)
c.22409A>T (p.Glu7470Val)
c.22340A>T (p.Glu7447Val)
c.22328A>T (p.Glu7443Val)
c.22325A>T (p.Glu7442Val)
c.22322A>T (p.Glu7441Val)
c.22478A>T (p.Glu7493Val)
c.22316A>T (p.Glu7439Val)
c.20756A>T (p.Glu6919Val)
c.20249A>T (p.Glu6750Val)
c.15716A>T (p.Glu5239Val)
c.22454A>T (p.Glu7485Val)
c.22403A>T (p.Glu7468Val)
6g.152213661T>CCA366099187SYNE1c.22445A>G (p.Glu7482Gly)
c.22232A>G (p.Glu7411Gly)
c.21230A>G (p.Glu7077Gly)
c.1211A>G (p.Glu404Gly)
n.6137A>G
c.383A>G (p.Glu128Gly)
n.6029A>G
c.22481A>G (p.Glu7494Gly)
c.22469A>G (p.Glu7490Gly)
c.22460A>G (p.Glu7487Gly)
c.22430A>G (p.Glu7477Gly)
c.22466A>G (p.Glu7489Gly)
c.22409A>G (p.Glu7470Gly)
c.22340A>G (p.Glu7447Gly)
c.22328A>G (p.Glu7443Gly)
c.22325A>G (p.Glu7442Gly)
c.22322A>G (p.Glu7441Gly)
c.22478A>G (p.Glu7493Gly)
c.22316A>G (p.Glu7439Gly)
c.20756A>G (p.Glu6919Gly)
c.20249A>G (p.Glu6750Gly)
c.15716A>G (p.Glu5239Gly)
c.22454A>G (p.Glu7485Gly)
c.22403A>G (p.Glu7468Gly)
 ClinVar dbSNP gnomAD v4
6g.152213661T>GCA366099185SYNE1c.22445A>C (p.Glu7482Ala)
c.22232A>C (p.Glu7411Ala)
c.21230A>C (p.Glu7077Ala)
c.1211A>C (p.Glu404Ala)
n.6137A>C
c.383A>C (p.Glu128Ala)
n.6029A>C
c.22481A>C (p.Glu7494Ala)
c.22469A>C (p.Glu7490Ala)
c.22460A>C (p.Glu7487Ala)
c.22430A>C (p.Glu7477Ala)
c.22466A>C (p.Glu7489Ala)
c.22409A>C (p.Glu7470Ala)
c.22340A>C (p.Glu7447Ala)
c.22328A>C (p.Glu7443Ala)
c.22325A>C (p.Glu7442Ala)
c.22322A>C (p.Glu7441Ala)
c.22478A>C (p.Glu7493Ala)
c.22316A>C (p.Glu7439Ala)
c.20756A>C (p.Glu6919Ala)
c.20249A>C (p.Glu6750Ala)
c.15716A>C (p.Glu5239Ala)
c.22454A>C (p.Glu7485Ala)
c.22403A>C (p.Glu7468Ala)
6g.152213661T=CA1673241106SYNE1c.22445A= (p.Glu7482=)
c.22232A= (p.Glu7411=)
c.21230A= (p.Glu7077=)
c.1211A= (p.Glu404=)
n.6137A=
c.383A= (p.Glu128=)
n.6029A=
c.22481A= (p.Glu7494=)
c.22469A= (p.Glu7490=)
c.22460A= (p.Glu7487=)
c.22430A= (p.Glu7477=)
c.22466A= (p.Glu7489=)
c.22409A= (p.Glu7470=)
c.22340A= (p.Glu7447=)
c.22328A= (p.Glu7443=)
c.22325A= (p.Glu7442=)
c.22322A= (p.Glu7441=)
c.22478A= (p.Glu7493=)
c.22316A= (p.Glu7439=)
c.20756A= (p.Glu6919=)
c.20249A= (p.Glu6750=)
c.15716A= (p.Glu5239=)
c.22454A= (p.Glu7485=)
c.22403A= (p.Glu7468=)
6g.152213662C>ACA366099188SYNE1c.22444G>T (p.Glu7482Ter)
c.22231G>T (p.Glu7411Ter)
c.21229G>T (p.Glu7077Ter)
c.1210G>T (p.Glu404Ter)
n.6136G>T
c.382G>T (p.Glu128Ter)
n.6028G>T
c.22480G>T (p.Glu7494Ter)
c.22468G>T (p.Glu7490Ter)
c.22459G>T (p.Glu7487Ter)
c.22429G>T (p.Glu7477Ter)
c.22465G>T (p.Glu7489Ter)
c.22408G>T (p.Glu7470Ter)
c.22339G>T (p.Glu7447Ter)
c.22327G>T (p.Glu7443Ter)
c.22324G>T (p.Glu7442Ter)
c.22321G>T (p.Glu7441Ter)
c.22477G>T (p.Glu7493Ter)
c.22315G>T (p.Glu7439Ter)
c.20755G>T (p.Glu6919Ter)
c.20248G>T (p.Glu6750Ter)
c.15715G>T (p.Glu5239Ter)
c.22453G>T (p.Glu7485Ter)
c.22402G>T (p.Glu7468Ter)
6g.152213662C>GCA366099190SYNE1c.22444G>C (p.Glu7482Gln)
c.22231G>C (p.Glu7411Gln)
c.21229G>C (p.Glu7077Gln)
c.1210G>C (p.Glu404Gln)
n.6136G>C
c.382G>C (p.Glu128Gln)
n.6028G>C
c.22480G>C (p.Glu7494Gln)
c.22468G>C (p.Glu7490Gln)
c.22459G>C (p.Glu7487Gln)
c.22429G>C (p.Glu7477Gln)
c.22465G>C (p.Glu7489Gln)
c.22408G>C (p.Glu7470Gln)
c.22339G>C (p.Glu7447Gln)
c.22327G>C (p.Glu7443Gln)
c.22324G>C (p.Glu7442Gln)
c.22321G>C (p.Glu7441Gln)
c.22477G>C (p.Glu7493Gln)
c.22315G>C (p.Glu7439Gln)
c.20755G>C (p.Glu6919Gln)
c.20248G>C (p.Glu6750Gln)
c.15715G>C (p.Glu5239Gln)
c.22453G>C (p.Glu7485Gln)
c.22402G>C (p.Glu7468Gln)
6g.152213662C>TCA366099191SYNE1c.22444G>A (p.Glu7482Lys)
c.22231G>A (p.Glu7411Lys)
c.21229G>A (p.Glu7077Lys)
c.1210G>A (p.Glu404Lys)
n.6136G>A
c.382G>A (p.Glu128Lys)
n.6028G>A
c.22480G>A (p.Glu7494Lys)
c.22468G>A (p.Glu7490Lys)
c.22459G>A (p.Glu7487Lys)
c.22429G>A (p.Glu7477Lys)
c.22465G>A (p.Glu7489Lys)
c.22408G>A (p.Glu7470Lys)
c.22339G>A (p.Glu7447Lys)
c.22327G>A (p.Glu7443Lys)
c.22324G>A (p.Glu7442Lys)
c.22321G>A (p.Glu7441Lys)
c.22477G>A (p.Glu7493Lys)
c.22315G>A (p.Glu7439Lys)
c.20755G>A (p.Glu6919Lys)
c.20248G>A (p.Glu6750Lys)
c.15715G>A (p.Glu5239Lys)
c.22453G>A (p.Glu7485Lys)
c.22402G>A (p.Glu7468Lys)
6g.152213663T>ACA452748443SYNE1c.22443A>T (p.Val7481=)
c.22230A>T (p.Val7410=)
c.21228A>T (p.Val7076=)
c.1209A>T (p.Val403=)
n.6135A>T
c.381A>T (p.Val127=)
n.6027A>T
c.22479A>T (p.Val7493=)
c.22467A>T (p.Val7489=)
c.22458A>T (p.Val7486=)
c.22428A>T (p.Val7476=)
c.22464A>T (p.Val7488=)
c.22407A>T (p.Val7469=)
c.22338A>T (p.Val7446=)
c.22326A>T (p.Val7442=)
c.22323A>T (p.Val7441=)
c.22320A>T (p.Val7440=)
c.22476A>T (p.Val7492=)
c.22314A>T (p.Val7438=)
c.20754A>T (p.Val6918=)
c.20247A>T (p.Val6749=)
c.15714A>T (p.Val5238=)
c.22452A>T (p.Val7484=)
c.22401A>T (p.Val7467=)
6g.152213663T>CCA452748444SYNE1c.22443A>G (p.Val7481=)
c.22230A>G (p.Val7410=)
c.21228A>G (p.Val7076=)
c.1209A>G (p.Val403=)
n.6135A>G
c.381A>G (p.Val127=)
n.6027A>G
c.22479A>G (p.Val7493=)
c.22467A>G (p.Val7489=)
c.22458A>G (p.Val7486=)
c.22428A>G (p.Val7476=)
c.22464A>G (p.Val7488=)
c.22407A>G (p.Val7469=)
c.22338A>G (p.Val7446=)
c.22326A>G (p.Val7442=)
c.22323A>G (p.Val7441=)
c.22320A>G (p.Val7440=)
c.22476A>G (p.Val7492=)
c.22314A>G (p.Val7438=)
c.20754A>G (p.Val6918=)
c.20247A>G (p.Val6749=)
c.15714A>G (p.Val5238=)
c.22452A>G (p.Val7484=)
c.22401A>G (p.Val7467=)
6g.152213663T>GCA452748445SYNE1c.22443A>C (p.Val7481=)
c.22230A>C (p.Val7410=)
c.21228A>C (p.Val7076=)
c.1209A>C (p.Val403=)
n.6135A>C
c.381A>C (p.Val127=)
n.6027A>C
c.22479A>C (p.Val7493=)
c.22467A>C (p.Val7489=)
c.22458A>C (p.Val7486=)
c.22428A>C (p.Val7476=)
c.22464A>C (p.Val7488=)
c.22407A>C (p.Val7469=)
c.22338A>C (p.Val7446=)
c.22326A>C (p.Val7442=)
c.22323A>C (p.Val7441=)
c.22320A>C (p.Val7440=)
c.22476A>C (p.Val7492=)
c.22314A>C (p.Val7438=)
c.20754A>C (p.Val6918=)
c.20247A>C (p.Val6749=)
c.15714A>C (p.Val5238=)
c.22452A>C (p.Val7484=)
c.22401A>C (p.Val7467=)
6g.152213664A=CA1673241107SYNE1c.22442T= (p.Val7481=)
c.22229T= (p.Val7410=)
c.21227T= (p.Val7076=)
c.1208T= (p.Val403=)
n.6134T=
c.380T= (p.Val127=)
n.6026T=
c.22478T= (p.Val7493=)
c.22466T= (p.Val7489=)
c.22457T= (p.Val7486=)
c.22427T= (p.Val7476=)
c.22463T= (p.Val7488=)
c.22406T= (p.Val7469=)
c.22337T= (p.Val7446=)
c.22325T= (p.Val7442=)
c.22322T= (p.Val7441=)
c.22319T= (p.Val7440=)
c.22475T= (p.Val7492=)
c.22313T= (p.Val7438=)
c.20753T= (p.Val6918=)
c.20246T= (p.Val6749=)
c.15713T= (p.Val5238=)
c.22451T= (p.Val7484=)
c.22400T= (p.Val7467=)
6g.152213664A>CCA366099192SYNE1c.22442T>G (p.Val7481Gly)
c.22229T>G (p.Val7410Gly)
c.21227T>G (p.Val7076Gly)
c.1208T>G (p.Val403Gly)
n.6134T>G
c.380T>G (p.Val127Gly)
n.6026T>G
c.22478T>G (p.Val7493Gly)
c.22466T>G (p.Val7489Gly)
c.22457T>G (p.Val7486Gly)
c.22427T>G (p.Val7476Gly)
c.22463T>G (p.Val7488Gly)
c.22406T>G (p.Val7469Gly)
c.22337T>G (p.Val7446Gly)
c.22325T>G (p.Val7442Gly)
c.22322T>G (p.Val7441Gly)
c.22319T>G (p.Val7440Gly)
c.22475T>G (p.Val7492Gly)
c.22313T>G (p.Val7438Gly)
c.20753T>G (p.Val6918Gly)
c.20246T>G (p.Val6749Gly)
c.15713T>G (p.Val5238Gly)
c.22451T>G (p.Val7484Gly)
c.22400T>G (p.Val7467Gly)
6g.152213664A>GCA366099194SYNE1c.22442T>C (p.Val7481Ala)
c.22229T>C (p.Val7410Ala)
c.21227T>C (p.Val7076Ala)
c.1208T>C (p.Val403Ala)
n.6134T>C
c.380T>C (p.Val127Ala)
n.6026T>C
c.22478T>C (p.Val7493Ala)
c.22466T>C (p.Val7489Ala)
c.22457T>C (p.Val7486Ala)
c.22427T>C (p.Val7476Ala)
c.22463T>C (p.Val7488Ala)
c.22406T>C (p.Val7469Ala)
c.22337T>C (p.Val7446Ala)
c.22325T>C (p.Val7442Ala)
c.22322T>C (p.Val7441Ala)
c.22319T>C (p.Val7440Ala)
c.22475T>C (p.Val7492Ala)
c.22313T>C (p.Val7438Ala)
c.20753T>C (p.Val6918Ala)
c.20246T>C (p.Val6749Ala)
c.15713T>C (p.Val5238Ala)
c.22451T>C (p.Val7484Ala)
c.22400T>C (p.Val7467Ala)
 dbSNP gnomAD v4
6g.152213664A>TCA366099196SYNE1c.22442T>A (p.Val7481Glu)
c.22229T>A (p.Val7410Glu)
c.21227T>A (p.Val7076Glu)
c.1208T>A (p.Val403Glu)
n.6134T>A
c.380T>A (p.Val127Glu)
n.6026T>A
c.22478T>A (p.Val7493Glu)
c.22466T>A (p.Val7489Glu)
c.22457T>A (p.Val7486Glu)
c.22427T>A (p.Val7476Glu)
c.22463T>A (p.Val7488Glu)
c.22406T>A (p.Val7469Glu)
c.22337T>A (p.Val7446Glu)
c.22325T>A (p.Val7442Glu)
c.22322T>A (p.Val7441Glu)
c.22319T>A (p.Val7440Glu)
c.22475T>A (p.Val7492Glu)
c.22313T>A (p.Val7438Glu)
c.20753T>A (p.Val6918Glu)
c.20246T>A (p.Val6749Glu)
c.15713T>A (p.Val5238Glu)
c.22451T>A (p.Val7484Glu)
c.22400T>A (p.Val7467Glu)
6g.152213665C>ACA366099198SYNE1c.22441G>T (p.Val7481Leu)
c.22228G>T (p.Val7410Leu)
c.21226G>T (p.Val7076Leu)
c.1207G>T (p.Val403Leu)
n.6133G>T
c.379G>T (p.Val127Leu)
n.6025G>T
c.22477G>T (p.Val7493Leu)
c.22465G>T (p.Val7489Leu)
c.22456G>T (p.Val7486Leu)
c.22426G>T (p.Val7476Leu)
c.22462G>T (p.Val7488Leu)
c.22405G>T (p.Val7469Leu)
c.22336G>T (p.Val7446Leu)
c.22324G>T (p.Val7442Leu)
c.22321G>T (p.Val7441Leu)
c.22318G>T (p.Val7440Leu)
c.22474G>T (p.Val7492Leu)
c.22312G>T (p.Val7438Leu)
c.20752G>T (p.Val6918Leu)
c.20245G>T (p.Val6749Leu)
c.15712G>T (p.Val5238Leu)
c.22450G>T (p.Val7484Leu)
c.22399G>T (p.Val7467Leu)
6g.152213665C>GCA366099200SYNE1c.22441G>C (p.Val7481Leu)
c.22228G>C (p.Val7410Leu)
c.21226G>C (p.Val7076Leu)
c.1207G>C (p.Val403Leu)
n.6133G>C
c.379G>C (p.Val127Leu)
n.6025G>C
c.22477G>C (p.Val7493Leu)
c.22465G>C (p.Val7489Leu)
c.22456G>C (p.Val7486Leu)
c.22426G>C (p.Val7476Leu)
c.22462G>C (p.Val7488Leu)
c.22405G>C (p.Val7469Leu)
c.22336G>C (p.Val7446Leu)
c.22324G>C (p.Val7442Leu)
c.22321G>C (p.Val7441Leu)
c.22318G>C (p.Val7440Leu)
c.22474G>C (p.Val7492Leu)
c.22312G>C (p.Val7438Leu)
c.20752G>C (p.Val6918Leu)
c.20245G>C (p.Val6749Leu)
c.15712G>C (p.Val5238Leu)
c.22450G>C (p.Val7484Leu)
c.22399G>C (p.Val7467Leu)
6g.152213665C>TCA366099201SYNE1c.22441G>A (p.Val7481Ile)
c.22228G>A (p.Val7410Ile)
c.21226G>A (p.Val7076Ile)
c.1207G>A (p.Val403Ile)
n.6133G>A
c.379G>A (p.Val127Ile)
n.6025G>A
c.22477G>A (p.Val7493Ile)
c.22465G>A (p.Val7489Ile)
c.22456G>A (p.Val7486Ile)
c.22426G>A (p.Val7476Ile)
c.22462G>A (p.Val7488Ile)
c.22405G>A (p.Val7469Ile)
c.22336G>A (p.Val7446Ile)
c.22324G>A (p.Val7442Ile)
c.22321G>A (p.Val7441Ile)
c.22318G>A (p.Val7440Ile)
c.22474G>A (p.Val7492Ile)
c.22312G>A (p.Val7438Ile)
c.20752G>A (p.Val6918Ile)
c.20245G>A (p.Val6749Ile)
c.15712G>A (p.Val5238Ile)
c.22450G>A (p.Val7484Ile)
c.22399G>A (p.Val7467Ile)
6g.152213667_152213669delCA2578773610SYNE1c.22439_22441del (p.Ala7480del)
c.22226_22228del (p.Ala7409del)
c.21224_21226del (p.Ala7075del)
c.1205_1207del (p.Ala402del)
n.6131_6133del
c.377_379del (p.Ala126del)
n.6023_6025del
c.22475_22477del (p.Ala7492del)
c.22463_22465del (p.Ala7488del)
c.22454_22456del (p.Ala7485del)
c.22424_22426del (p.Ala7475del)
c.22460_22462del (p.Ala7487del)
c.22403_22405del (p.Ala7468del)
c.22334_22336del (p.Ala7445del)
c.22322_22324del (p.Ala7441del)
c.22319_22321del (p.Ala7440del)
c.22316_22318del (p.Ala7439del)
c.22472_22474del (p.Ala7491del)
c.22310_22312del (p.Ala7437del)
c.20750_20752del (p.Ala6917del)
c.20243_20245del (p.Ala6748del)
c.15710_15712del (p.Ala5237del)
c.22448_22450del (p.Ala7483del)
c.22397_22399del (p.Ala7466del)
6g.152213666T>ACA452748448SYNE1c.22440A>T (p.Ala7480=)
c.22227A>T (p.Ala7409=)
c.21225A>T (p.Ala7075=)
c.1206A>T (p.Ala402=)
n.6132A>T
c.378A>T (p.Ala126=)
n.6024A>T
c.22476A>T (p.Ala7492=)
c.22464A>T (p.Ala7488=)
c.22455A>T (p.Ala7485=)
c.22425A>T (p.Ala7475=)
c.22461A>T (p.Ala7487=)
c.22404A>T (p.Ala7468=)
c.22335A>T (p.Ala7445=)
c.22323A>T (p.Ala7441=)
c.22320A>T (p.Ala7440=)
c.22317A>T (p.Ala7439=)
c.22473A>T (p.Ala7491=)
c.22311A>T (p.Ala7437=)
c.20751A>T (p.Ala6917=)
c.20244A>T (p.Ala6748=)
c.15711A>T (p.Ala5237=)
c.22449A>T (p.Ala7483=)
c.22398A>T (p.Ala7466=)
6g.152213666T>CCA452748447SYNE1c.22440A>G (p.Ala7480=)
c.22227A>G (p.Ala7409=)
c.21225A>G (p.Ala7075=)
c.1206A>G (p.Ala402=)
n.6132A>G
c.378A>G (p.Ala126=)
n.6024A>G
c.22476A>G (p.Ala7492=)
c.22464A>G (p.Ala7488=)
c.22455A>G (p.Ala7485=)
c.22425A>G (p.Ala7475=)
c.22461A>G (p.Ala7487=)
c.22404A>G (p.Ala7468=)
c.22335A>G (p.Ala7445=)
c.22323A>G (p.Ala7441=)
c.22320A>G (p.Ala7440=)
c.22317A>G (p.Ala7439=)
c.22473A>G (p.Ala7491=)
c.22311A>G (p.Ala7437=)
c.20751A>G (p.Ala6917=)
c.20244A>G (p.Ala6748=)
c.15711A>G (p.Ala5237=)
c.22449A>G (p.Ala7483=)
c.22398A>G (p.Ala7466=)
6g.152213666T>GCA452748446SYNE1c.22440A>C (p.Ala7480=)
c.22227A>C (p.Ala7409=)
c.21225A>C (p.Ala7075=)
c.1206A>C (p.Ala402=)
n.6132A>C
c.378A>C (p.Ala126=)
n.6024A>C
c.22476A>C (p.Ala7492=)
c.22464A>C (p.Ala7488=)
c.22455A>C (p.Ala7485=)
c.22425A>C (p.Ala7475=)
c.22461A>C (p.Ala7487=)
c.22404A>C (p.Ala7468=)
c.22335A>C (p.Ala7445=)
c.22323A>C (p.Ala7441=)
c.22320A>C (p.Ala7440=)
c.22317A>C (p.Ala7439=)
c.22473A>C (p.Ala7491=)
c.22311A>C (p.Ala7437=)
c.20751A>C (p.Ala6917=)
c.20244A>C (p.Ala6748=)
c.15711A>C (p.Ala5237=)
c.22449A>C (p.Ala7483=)
c.22398A>C (p.Ala7466=)
6g.152213667G>ACA366099204SYNE1c.22439C>T (p.Ala7480Val)
c.22226C>T (p.Ala7409Val)
c.21224C>T (p.Ala7075Val)
c.1205C>T (p.Ala402Val)
n.6131C>T
c.377C>T (p.Ala126Val)
n.6023C>T
c.22475C>T (p.Ala7492Val)
c.22463C>T (p.Ala7488Val)
c.22454C>T (p.Ala7485Val)
c.22424C>T (p.Ala7475Val)
c.22460C>T (p.Ala7487Val)
c.22403C>T (p.Ala7468Val)
c.22334C>T (p.Ala7445Val)
c.22322C>T (p.Ala7441Val)
c.22319C>T (p.Ala7440Val)
c.22316C>T (p.Ala7439Val)
c.22472C>T (p.Ala7491Val)
c.22310C>T (p.Ala7437Val)
c.20750C>T (p.Ala6917Val)
c.20243C>T (p.Ala6748Val)
c.15710C>T (p.Ala5237Val)
c.22448C>T (p.Ala7483Val)
c.22397C>T (p.Ala7466Val)
6g.152213667G>CCA366099206SYNE1c.22439C>G (p.Ala7480Gly)
c.22226C>G (p.Ala7409Gly)
c.21224C>G (p.Ala7075Gly)
c.1205C>G (p.Ala402Gly)
n.6131C>G
c.377C>G (p.Ala126Gly)
n.6023C>G
c.22475C>G (p.Ala7492Gly)
c.22463C>G (p.Ala7488Gly)
c.22454C>G (p.Ala7485Gly)
c.22424C>G (p.Ala7475Gly)
c.22460C>G (p.Ala7487Gly)
c.22403C>G (p.Ala7468Gly)
c.22334C>G (p.Ala7445Gly)
c.22322C>G (p.Ala7441Gly)
c.22319C>G (p.Ala7440Gly)
c.22316C>G (p.Ala7439Gly)
c.22472C>G (p.Ala7491Gly)
c.22310C>G (p.Ala7437Gly)
c.20750C>G (p.Ala6917Gly)
c.20243C>G (p.Ala6748Gly)
c.15710C>G (p.Ala5237Gly)
c.22448C>G (p.Ala7483Gly)
c.22397C>G (p.Ala7466Gly)
 dbSNP
6g.152213667G=CA1673241108SYNE1c.22439C= (p.Ala7480=)
c.22226C= (p.Ala7409=)
c.21224C= (p.Ala7075=)
c.1205C= (p.Ala402=)
n.6131C=
c.377C= (p.Ala126=)
n.6023C=
c.22475C= (p.Ala7492=)
c.22463C= (p.Ala7488=)
c.22454C= (p.Ala7485=)
c.22424C= (p.Ala7475=)
c.22460C= (p.Ala7487=)
c.22403C= (p.Ala7468=)
c.22334C= (p.Ala7445=)
c.22322C= (p.Ala7441=)
c.22319C= (p.Ala7440=)
c.22316C= (p.Ala7439=)
c.22472C= (p.Ala7491=)
c.22310C= (p.Ala7437=)
c.20750C= (p.Ala6917=)
c.20243C= (p.Ala6748=)
c.15710C= (p.Ala5237=)
c.22448C= (p.Ala7483=)
c.22397C= (p.Ala7466=)
6g.152213667G>TCA366099208SYNE1c.22439C>A (p.Ala7480Glu)
c.22226C>A (p.Ala7409Glu)
c.21224C>A (p.Ala7075Glu)
c.1205C>A (p.Ala402Glu)
n.6131C>A
c.377C>A (p.Ala126Glu)
n.6023C>A
c.22475C>A (p.Ala7492Glu)
c.22463C>A (p.Ala7488Glu)
c.22454C>A (p.Ala7485Glu)
c.22424C>A (p.Ala7475Glu)
c.22460C>A (p.Ala7487Glu)
c.22403C>A (p.Ala7468Glu)
c.22334C>A (p.Ala7445Glu)
c.22322C>A (p.Ala7441Glu)
c.22319C>A (p.Ala7440Glu)
c.22316C>A (p.Ala7439Glu)
c.22472C>A (p.Ala7491Glu)
c.22310C>A (p.Ala7437Glu)
c.20750C>A (p.Ala6917Glu)
c.20243C>A (p.Ala6748Glu)
c.15710C>A (p.Ala5237Glu)
c.22448C>A (p.Ala7483Glu)
c.22397C>A (p.Ala7466Glu)
6g.152213668C>ACA366099213SYNE1c.22438G>T (p.Ala7480Ser)
c.22225G>T (p.Ala7409Ser)
c.21223G>T (p.Ala7075Ser)
c.1204G>T (p.Ala402Ser)
n.6130G>T
c.376G>T (p.Ala126Ser)
n.6022G>T
c.22474G>T (p.Ala7492Ser)
c.22462G>T (p.Ala7488Ser)
c.22453G>T (p.Ala7485Ser)
c.22423G>T (p.Ala7475Ser)
c.22459G>T (p.Ala7487Ser)
c.22402G>T (p.Ala7468Ser)
c.22333G>T (p.Ala7445Ser)
c.22321G>T (p.Ala7441Ser)
c.22318G>T (p.Ala7440Ser)
c.22315G>T (p.Ala7439Ser)
c.22471G>T (p.Ala7491Ser)
c.22309G>T (p.Ala7437Ser)
c.20749G>T (p.Ala6917Ser)
c.20242G>T (p.Ala6748Ser)
c.15709G>T (p.Ala5237Ser)
c.22447G>T (p.Ala7483Ser)
c.22396G>T (p.Ala7466Ser)
 gnomAD v4
6g.152213668C=CA1673241109SYNE1c.22438G= (p.Ala7480=)
c.22225G= (p.Ala7409=)
c.21223G= (p.Ala7075=)
c.1204G= (p.Ala402=)
n.6130G=
c.376G= (p.Ala126=)
n.6022G=
c.22474G= (p.Ala7492=)
c.22462G= (p.Ala7488=)
c.22453G= (p.Ala7485=)
c.22423G= (p.Ala7475=)
c.22459G= (p.Ala7487=)
c.22402G= (p.Ala7468=)
c.22333G= (p.Ala7445=)
c.22321G= (p.Ala7441=)
c.22318G= (p.Ala7440=)
c.22315G= (p.Ala7439=)
c.22471G= (p.Ala7491=)
c.22309G= (p.Ala7437=)
c.20749G= (p.Ala6917=)
c.20242G= (p.Ala6748=)
c.15709G= (p.Ala5237=)
c.22447G= (p.Ala7483=)
c.22396G= (p.Ala7466=)
6g.152213668C>GCA366099211SYNE1c.22438G>C (p.Ala7480Pro)
c.22225G>C (p.Ala7409Pro)
c.21223G>C (p.Ala7075Pro)
c.1204G>C (p.Ala402Pro)
n.6130G>C
c.376G>C (p.Ala126Pro)
n.6022G>C
c.22474G>C (p.Ala7492Pro)
c.22462G>C (p.Ala7488Pro)
c.22453G>C (p.Ala7485Pro)
c.22423G>C (p.Ala7475Pro)
c.22459G>C (p.Ala7487Pro)
c.22402G>C (p.Ala7468Pro)
c.22333G>C (p.Ala7445Pro)
c.22321G>C (p.Ala7441Pro)
c.22318G>C (p.Ala7440Pro)
c.22315G>C (p.Ala7439Pro)
c.22471G>C (p.Ala7491Pro)
c.22309G>C (p.Ala7437Pro)
c.20749G>C (p.Ala6917Pro)
c.20242G>C (p.Ala6748Pro)
c.15709G>C (p.Ala5237Pro)
c.22447G>C (p.Ala7483Pro)
c.22396G>C (p.Ala7466Pro)
6g.152213668C>TCA366099210SYNE1c.22438G>A (p.Ala7480Thr)
c.22225G>A (p.Ala7409Thr)
c.21223G>A (p.Ala7075Thr)
c.1204G>A (p.Ala402Thr)
n.6130G>A
c.376G>A (p.Ala126Thr)
n.6022G>A
c.22474G>A (p.Ala7492Thr)
c.22462G>A (p.Ala7488Thr)
c.22453G>A (p.Ala7485Thr)
c.22423G>A (p.Ala7475Thr)
c.22459G>A (p.Ala7487Thr)
c.22402G>A (p.Ala7468Thr)
c.22333G>A (p.Ala7445Thr)
c.22321G>A (p.Ala7441Thr)
c.22318G>A (p.Ala7440Thr)
c.22315G>A (p.Ala7439Thr)
c.22471G>A (p.Ala7491Thr)
c.22309G>A (p.Ala7437Thr)
c.20749G>A (p.Ala6917Thr)
c.20242G>A (p.Ala6748Thr)
c.15709G>A (p.Ala5237Thr)
c.22447G>A (p.Ala7483Thr)
c.22396G>A (p.Ala7466Thr)
 dbSNP gnomAD v4
6g.152213669T>ACA366099216SYNE1c.22437A>T (p.Leu7479Phe)
c.22224A>T (p.Leu7408Phe)
c.21222A>T (p.Leu7074Phe)
c.1203A>T (p.Leu401Phe)
n.6129A>T
c.375A>T (p.Leu125Phe)
n.6021A>T
c.22473A>T (p.Leu7491Phe)
c.22461A>T (p.Leu7487Phe)
c.22452A>T (p.Leu7484Phe)
c.22422A>T (p.Leu7474Phe)
c.22458A>T (p.Leu7486Phe)
c.22401A>T (p.Leu7467Phe)
c.22332A>T (p.Leu7444Phe)
c.22320A>T (p.Leu7440Phe)
c.22317A>T (p.Leu7439Phe)
c.22314A>T (p.Leu7438Phe)
c.22470A>T (p.Leu7490Phe)
c.22308A>T (p.Leu7436Phe)
c.20748A>T (p.Leu6916Phe)
c.20241A>T (p.Leu6747Phe)
c.15708A>T (p.Leu5236Phe)
c.22446A>T (p.Leu7482Phe)
c.22395A>T (p.Leu7465Phe)
6g.152213669T>CCA452748450SYNE1c.22437A>G (p.Leu7479=)
c.22224A>G (p.Leu7408=)
c.21222A>G (p.Leu7074=)
c.1203A>G (p.Leu401=)
n.6129A>G
c.375A>G (p.Leu125=)
n.6021A>G
c.22473A>G (p.Leu7491=)
c.22461A>G (p.Leu7487=)
c.22452A>G (p.Leu7484=)
c.22422A>G (p.Leu7474=)
c.22458A>G (p.Leu7486=)
c.22401A>G (p.Leu7467=)
c.22332A>G (p.Leu7444=)
c.22320A>G (p.Leu7440=)
c.22317A>G (p.Leu7439=)
c.22314A>G (p.Leu7438=)
c.22470A>G (p.Leu7490=)
c.22308A>G (p.Leu7436=)
c.20748A>G (p.Leu6916=)
c.20241A>G (p.Leu6747=)
c.15708A>G (p.Leu5236=)
c.22446A>G (p.Leu7482=)
c.22395A>G (p.Leu7465=)
6g.152213669T>GCA366099217SYNE1c.22437A>C (p.Leu7479Phe)
c.22224A>C (p.Leu7408Phe)
c.21222A>C (p.Leu7074Phe)
c.1203A>C (p.Leu401Phe)
n.6129A>C
c.375A>C (p.Leu125Phe)
n.6021A>C
c.22473A>C (p.Leu7491Phe)
c.22461A>C (p.Leu7487Phe)
c.22452A>C (p.Leu7484Phe)
c.22422A>C (p.Leu7474Phe)
c.22458A>C (p.Leu7486Phe)
c.22401A>C (p.Leu7467Phe)
c.22332A>C (p.Leu7444Phe)
c.22320A>C (p.Leu7440Phe)
c.22317A>C (p.Leu7439Phe)
c.22314A>C (p.Leu7438Phe)
c.22470A>C (p.Leu7490Phe)
c.22308A>C (p.Leu7436Phe)
c.20748A>C (p.Leu6916Phe)
c.20241A>C (p.Leu6747Phe)
c.15708A>C (p.Leu5236Phe)
c.22446A>C (p.Leu7482Phe)
c.22395A>C (p.Leu7465Phe)
6g.152213670A>CCA366099220SYNE1c.22436T>G (p.Leu7479Ter)
c.22223T>G (p.Leu7408Ter)
c.21221T>G (p.Leu7074Ter)
c.1202T>G (p.Leu401Ter)
n.6128T>G
c.374T>G (p.Leu125Ter)
n.6020T>G
c.22472T>G (p.Leu7491Ter)
c.22460T>G (p.Leu7487Ter)
c.22451T>G (p.Leu7484Ter)
c.22421T>G (p.Leu7474Ter)
c.22457T>G (p.Leu7486Ter)
c.22400T>G (p.Leu7467Ter)
c.22331T>G (p.Leu7444Ter)
c.22319T>G (p.Leu7440Ter)
c.22316T>G (p.Leu7439Ter)
c.22313T>G (p.Leu7438Ter)
c.22469T>G (p.Leu7490Ter)
c.22307T>G (p.Leu7436Ter)
c.20747T>G (p.Leu6916Ter)
c.20240T>G (p.Leu6747Ter)
c.15707T>G (p.Leu5236Ter)
c.22445T>G (p.Leu7482Ter)
c.22394T>G (p.Leu7465Ter)
 gnomAD v4
6g.152213670A>GCA366099222SYNE1c.22436T>C (p.Leu7479Ser)
c.22223T>C (p.Leu7408Ser)
c.21221T>C (p.Leu7074Ser)
c.1202T>C (p.Leu401Ser)
n.6128T>C
c.374T>C (p.Leu125Ser)
n.6020T>C
c.22472T>C (p.Leu7491Ser)
c.22460T>C (p.Leu7487Ser)
c.22451T>C (p.Leu7484Ser)
c.22421T>C (p.Leu7474Ser)
c.22457T>C (p.Leu7486Ser)
c.22400T>C (p.Leu7467Ser)
c.22331T>C (p.Leu7444Ser)
c.22319T>C (p.Leu7440Ser)
c.22316T>C (p.Leu7439Ser)
c.22313T>C (p.Leu7438Ser)
c.22469T>C (p.Leu7490Ser)
c.22307T>C (p.Leu7436Ser)
c.20747T>C (p.Leu6916Ser)
c.20240T>C (p.Leu6747Ser)
c.15707T>C (p.Leu5236Ser)
c.22445T>C (p.Leu7482Ser)
c.22394T>C (p.Leu7465Ser)
 gnomAD v4
6g.152213670A>TCA366099224SYNE1c.22436T>A (p.Leu7479Ter)
c.22223T>A (p.Leu7408Ter)
c.21221T>A (p.Leu7074Ter)
c.1202T>A (p.Leu401Ter)
n.6128T>A
c.374T>A (p.Leu125Ter)
n.6020T>A
c.22472T>A (p.Leu7491Ter)
c.22460T>A (p.Leu7487Ter)
c.22451T>A (p.Leu7484Ter)
c.22421T>A (p.Leu7474Ter)
c.22457T>A (p.Leu7486Ter)
c.22400T>A (p.Leu7467Ter)
c.22331T>A (p.Leu7444Ter)
c.22319T>A (p.Leu7440Ter)
c.22316T>A (p.Leu7439Ter)
c.22313T>A (p.Leu7438Ter)
c.22469T>A (p.Leu7490Ter)
c.22307T>A (p.Leu7436Ter)
c.20747T>A (p.Leu6916Ter)
c.20240T>A (p.Leu6747Ter)
c.15707T>A (p.Leu5236Ter)
c.22445T>A (p.Leu7482Ter)
c.22394T>A (p.Leu7465Ter)
6g.152213671A>CCA366099226SYNE1c.22435T>G (p.Leu7479Val)
c.22222T>G (p.Leu7408Val)
c.21220T>G (p.Leu7074Val)
c.1201T>G (p.Leu401Val)
n.6127T>G
c.373T>G (p.Leu125Val)
n.6019T>G
c.22471T>G (p.Leu7491Val)
c.22459T>G (p.Leu7487Val)
c.22450T>G (p.Leu7484Val)
c.22420T>G (p.Leu7474Val)
c.22456T>G (p.Leu7486Val)
c.22399T>G (p.Leu7467Val)
c.22330T>G (p.Leu7444Val)
c.22318T>G (p.Leu7440Val)
c.22315T>G (p.Leu7439Val)
c.22312T>G (p.Leu7438Val)
c.22468T>G (p.Leu7490Val)
c.22306T>G (p.Leu7436Val)
c.20746T>G (p.Leu6916Val)
c.20239T>G (p.Leu6747Val)
c.15706T>G (p.Leu5236Val)
c.22444T>G (p.Leu7482Val)
c.22393T>G (p.Leu7465Val)
6g.152213671A>GCA452748451SYNE1c.22435T>C (p.Leu7479=)
c.22222T>C (p.Leu7408=)
c.21220T>C (p.Leu7074=)
c.1201T>C (p.Leu401=)
n.6127T>C
c.373T>C (p.Leu125=)
n.6019T>C
c.22471T>C (p.Leu7491=)
c.22459T>C (p.Leu7487=)
c.22450T>C (p.Leu7484=)
c.22420T>C (p.Leu7474=)
c.22456T>C (p.Leu7486=)
c.22399T>C (p.Leu7467=)
c.22330T>C (p.Leu7444=)
c.22318T>C (p.Leu7440=)
c.22315T>C (p.Leu7439=)
c.22312T>C (p.Leu7438=)
c.22468T>C (p.Leu7490=)
c.22306T>C (p.Leu7436=)
c.20746T>C (p.Leu6916=)
c.20239T>C (p.Leu6747=)
c.15706T>C (p.Leu5236=)
c.22444T>C (p.Leu7482=)
c.22393T>C (p.Leu7465=)
6g.152213671A>TCA366099228SYNE1c.22435T>A (p.Leu7479Ile)
c.22222T>A (p.Leu7408Ile)
c.21220T>A (p.Leu7074Ile)
c.1201T>A (p.Leu401Ile)
n.6127T>A
c.373T>A (p.Leu125Ile)
n.6019T>A
c.22471T>A (p.Leu7491Ile)
c.22459T>A (p.Leu7487Ile)
c.22450T>A (p.Leu7484Ile)
c.22420T>A (p.Leu7474Ile)
c.22456T>A (p.Leu7486Ile)
c.22399T>A (p.Leu7467Ile)
c.22330T>A (p.Leu7444Ile)
c.22318T>A (p.Leu7440Ile)
c.22315T>A (p.Leu7439Ile)
c.22312T>A (p.Leu7438Ile)
c.22468T>A (p.Leu7490Ile)
c.22306T>A (p.Leu7436Ile)
c.20746T>A (p.Leu6916Ile)
c.20239T>A (p.Leu6747Ile)
c.15706T>A (p.Leu5236Ile)
c.22444T>A (p.Leu7482Ile)
c.22393T>A (p.Leu7465Ile)
6g.152213672C>ACA366099229SYNE1c.22434G>T (p.Lys7478Asn)
c.22221G>T (p.Lys7407Asn)
c.21219G>T (p.Lys7073Asn)
c.1200G>T (p.Lys400Asn)
n.6126G>T
c.372G>T (p.Lys124Asn)
n.6018G>T
c.22470G>T (p.Lys7490Asn)
c.22458G>T (p.Lys7486Asn)
c.22449G>T (p.Lys7483Asn)
c.22419G>T (p.Lys7473Asn)
c.22455G>T (p.Lys7485Asn)
c.22398G>T (p.Lys7466Asn)
c.22329G>T (p.Lys7443Asn)
c.22317G>T (p.Lys7439Asn)
c.22314G>T (p.Lys7438Asn)
c.22311G>T (p.Lys7437Asn)
c.22467G>T (p.Lys7489Asn)
c.22305G>T (p.Lys7435Asn)
c.20745G>T (p.Lys6915Asn)
c.20238G>T (p.Lys6746Asn)
c.15705G>T (p.Lys5235Asn)
c.22443G>T (p.Lys7481Asn)
c.22392G>T (p.Lys7464Asn)
6g.152213672C>GCA366099232SYNE1c.22434G>C (p.Lys7478Asn)
c.22221G>C (p.Lys7407Asn)
c.21219G>C (p.Lys7073Asn)
c.1200G>C (p.Lys400Asn)
n.6126G>C
c.372G>C (p.Lys124Asn)
n.6018G>C
c.22470G>C (p.Lys7490Asn)
c.22458G>C (p.Lys7486Asn)
c.22449G>C (p.Lys7483Asn)
c.22419G>C (p.Lys7473Asn)
c.22455G>C (p.Lys7485Asn)
c.22398G>C (p.Lys7466Asn)
c.22329G>C (p.Lys7443Asn)
c.22317G>C (p.Lys7439Asn)
c.22314G>C (p.Lys7438Asn)
c.22311G>C (p.Lys7437Asn)
c.22467G>C (p.Lys7489Asn)
c.22305G>C (p.Lys7435Asn)
c.20745G>C (p.Lys6915Asn)
c.20238G>C (p.Lys6746Asn)
c.15705G>C (p.Lys5235Asn)
c.22443G>C (p.Lys7481Asn)
c.22392G>C (p.Lys7464Asn)
 dbSNP
6g.152213672C>TCA452748452SYNE1c.22434G>A (p.Lys7478=)
c.22221G>A (p.Lys7407=)
c.21219G>A (p.Lys7073=)
c.1200G>A (p.Lys400=)
n.6126G>A
c.372G>A (p.Lys124=)
n.6018G>A
c.22470G>A (p.Lys7490=)
c.22458G>A (p.Lys7486=)
c.22449G>A (p.Lys7483=)
c.22419G>A (p.Lys7473=)
c.22455G>A (p.Lys7485=)
c.22398G>A (p.Lys7466=)
c.22329G>A (p.Lys7443=)
c.22317G>A (p.Lys7439=)
c.22314G>A (p.Lys7438=)
c.22311G>A (p.Lys7437=)
c.22467G>A (p.Lys7489=)
c.22305G>A (p.Lys7435=)
c.20745G>A (p.Lys6915=)
c.20238G>A (p.Lys6746=)
c.15705G>A (p.Lys5235=)
c.22443G>A (p.Lys7481=)
c.22392G>A (p.Lys7464=)
6g.152213673T>ACA366099234SYNE1c.22433A>T (p.Lys7478Met)
c.22220A>T (p.Lys7407Met)
c.21218A>T (p.Lys7073Met)
c.1199A>T (p.Lys400Met)
n.6125A>T
c.371A>T (p.Lys124Met)
n.6017A>T
c.22469A>T (p.Lys7490Met)
c.22457A>T (p.Lys7486Met)
c.22448A>T (p.Lys7483Met)
c.22418A>T (p.Lys7473Met)
c.22454A>T (p.Lys7485Met)
c.22397A>T (p.Lys7466Met)
c.22328A>T (p.Lys7443Met)
c.22316A>T (p.Lys7439Met)
c.22313A>T (p.Lys7438Met)
c.22310A>T (p.Lys7437Met)
c.22466A>T (p.Lys7489Met)
c.22304A>T (p.Lys7435Met)
c.20744A>T (p.Lys6915Met)
c.20237A>T (p.Lys6746Met)
c.15704A>T (p.Lys5235Met)
c.22442A>T (p.Lys7481Met)
c.22391A>T (p.Lys7464Met)
6g.152213673T>CCA366099235SYNE1c.22433A>G (p.Lys7478Arg)
c.22220A>G (p.Lys7407Arg)
c.21218A>G (p.Lys7073Arg)
c.1199A>G (p.Lys400Arg)
n.6125A>G
c.371A>G (p.Lys124Arg)
n.6017A>G
c.22469A>G (p.Lys7490Arg)
c.22457A>G (p.Lys7486Arg)
c.22448A>G (p.Lys7483Arg)
c.22418A>G (p.Lys7473Arg)
c.22454A>G (p.Lys7485Arg)
c.22397A>G (p.Lys7466Arg)
c.22328A>G (p.Lys7443Arg)
c.22316A>G (p.Lys7439Arg)
c.22313A>G (p.Lys7438Arg)
c.22310A>G (p.Lys7437Arg)
c.22466A>G (p.Lys7489Arg)
c.22304A>G (p.Lys7435Arg)
c.20744A>G (p.Lys6915Arg)
c.20237A>G (p.Lys6746Arg)
c.15704A>G (p.Lys5235Arg)
c.22442A>G (p.Lys7481Arg)
c.22391A>G (p.Lys7464Arg)
 gnomAD v4
6g.152213673T>GCA366099237SYNE1c.22433A>C (p.Lys7478Thr)
c.22220A>C (p.Lys7407Thr)
c.21218A>C (p.Lys7073Thr)
c.1199A>C (p.Lys400Thr)
n.6125A>C
c.371A>C (p.Lys124Thr)
n.6017A>C
c.22469A>C (p.Lys7490Thr)
c.22457A>C (p.Lys7486Thr)
c.22448A>C (p.Lys7483Thr)
c.22418A>C (p.Lys7473Thr)
c.22454A>C (p.Lys7485Thr)
c.22397A>C (p.Lys7466Thr)
c.22328A>C (p.Lys7443Thr)
c.22316A>C (p.Lys7439Thr)
c.22313A>C (p.Lys7438Thr)
c.22310A>C (p.Lys7437Thr)
c.22466A>C (p.Lys7489Thr)
c.22304A>C (p.Lys7435Thr)
c.20744A>C (p.Lys6915Thr)
c.20237A>C (p.Lys6746Thr)
c.15704A>C (p.Lys5235Thr)
c.22442A>C (p.Lys7481Thr)
c.22391A>C (p.Lys7464Thr)
 ClinVar
6g.152213674T>ACA366099239SYNE1c.22432A>T (p.Lys7478Ter)
c.22219A>T (p.Lys7407Ter)
c.21217A>T (p.Lys7073Ter)
c.1198A>T (p.Lys400Ter)
n.6124A>T
c.370A>T (p.Lys124Ter)
n.6016A>T
c.22468A>T (p.Lys7490Ter)
c.22456A>T (p.Lys7486Ter)
c.22447A>T (p.Lys7483Ter)
c.22417A>T (p.Lys7473Ter)
c.22453A>T (p.Lys7485Ter)
c.22396A>T (p.Lys7466Ter)
c.22327A>T (p.Lys7443Ter)
c.22315A>T (p.Lys7439Ter)
c.22312A>T (p.Lys7438Ter)
c.22309A>T (p.Lys7437Ter)
c.22465A>T (p.Lys7489Ter)
c.22303A>T (p.Lys7435Ter)
c.20743A>T (p.Lys6915Ter)
c.20236A>T (p.Lys6746Ter)
c.15703A>T (p.Lys5235Ter)
c.22441A>T (p.Lys7481Ter)
c.22390A>T (p.Lys7464Ter)
6g.152213674T>CCA366099243SYNE1c.22432A>G (p.Lys7478Glu)
c.22219A>G (p.Lys7407Glu)
c.21217A>G (p.Lys7073Glu)
c.1198A>G (p.Lys400Glu)
n.6124A>G
c.370A>G (p.Lys124Glu)
n.6016A>G
c.22468A>G (p.Lys7490Glu)
c.22456A>G (p.Lys7486Glu)
c.22447A>G (p.Lys7483Glu)
c.22417A>G (p.Lys7473Glu)
c.22453A>G (p.Lys7485Glu)
c.22396A>G (p.Lys7466Glu)
c.22327A>G (p.Lys7443Glu)
c.22315A>G (p.Lys7439Glu)
c.22312A>G (p.Lys7438Glu)
c.22309A>G (p.Lys7437Glu)
c.22465A>G (p.Lys7489Glu)
c.22303A>G (p.Lys7435Glu)
c.20743A>G (p.Lys6915Glu)
c.20236A>G (p.Lys6746Glu)
c.15703A>G (p.Lys5235Glu)
c.22441A>G (p.Lys7481Glu)
c.22390A>G (p.Lys7464Glu)
6g.152213674T>GCA366099241SYNE1c.22432A>C (p.Lys7478Gln)
c.22219A>C (p.Lys7407Gln)
c.21217A>C (p.Lys7073Gln)
c.1198A>C (p.Lys400Gln)
n.6124A>C
c.370A>C (p.Lys124Gln)
n.6016A>C
c.22468A>C (p.Lys7490Gln)
c.22456A>C (p.Lys7486Gln)
c.22447A>C (p.Lys7483Gln)
c.22417A>C (p.Lys7473Gln)
c.22453A>C (p.Lys7485Gln)
c.22396A>C (p.Lys7466Gln)
c.22327A>C (p.Lys7443Gln)
c.22315A>C (p.Lys7439Gln)
c.22312A>C (p.Lys7438Gln)
c.22309A>C (p.Lys7437Gln)
c.22465A>C (p.Lys7489Gln)
c.22303A>C (p.Lys7435Gln)
c.20743A>C (p.Lys6915Gln)
c.20236A>C (p.Lys6746Gln)
c.15703A>C (p.Lys5235Gln)
c.22441A>C (p.Lys7481Gln)
c.22390A>C (p.Lys7464Gln)
6g.152213675T>ACA366099245SYNE1c.22431A>T (p.Gln7477His)
c.22218A>T (p.Gln7406His)
c.21216A>T (p.Gln7072His)
c.1197A>T (p.Gln399His)
n.6123A>T
c.369A>T (p.Gln123His)
n.6015A>T
c.22467A>T (p.Gln7489His)
c.22455A>T (p.Gln7485His)
c.22446A>T (p.Gln7482His)
c.22416A>T (p.Gln7472His)
c.22452A>T (p.Gln7484His)
c.22395A>T (p.Gln7465His)
c.22326A>T (p.Gln7442His)
c.22314A>T (p.Gln7438His)
c.22311A>T (p.Gln7437His)
c.22308A>T (p.Gln7436His)
c.22464A>T (p.Gln7488His)
c.22302A>T (p.Gln7434His)
c.20742A>T (p.Gln6914His)
c.20235A>T (p.Gln6745His)
c.15702A>T (p.Gln5234His)
c.22440A>T (p.Gln7480His)
c.22389A>T (p.Gln7463His)
6g.152213675T>CCA452748453SYNE1c.22431A>G (p.Gln7477=)
c.22218A>G (p.Gln7406=)
c.21216A>G (p.Gln7072=)
c.1197A>G (p.Gln399=)
n.6123A>G
c.369A>G (p.Gln123=)
n.6015A>G
c.22467A>G (p.Gln7489=)
c.22455A>G (p.Gln7485=)
c.22446A>G (p.Gln7482=)
c.22416A>G (p.Gln7472=)
c.22452A>G (p.Gln7484=)
c.22395A>G (p.Gln7465=)
c.22326A>G (p.Gln7442=)
c.22314A>G (p.Gln7438=)
c.22311A>G (p.Gln7437=)
c.22308A>G (p.Gln7436=)
c.22464A>G (p.Gln7488=)
c.22302A>G (p.Gln7434=)
c.20742A>G (p.Gln6914=)
c.20235A>G (p.Gln6745=)
c.15702A>G (p.Gln5234=)
c.22440A>G (p.Gln7480=)
c.22389A>G (p.Gln7463=)
 dbSNP
6g.152213675T>GCA4053883SYNE1c.22431A>C (p.Gln7477His)
c.22218A>C (p.Gln7406His)
c.21216A>C (p.Gln7072His)
c.1197A>C (p.Gln399His)
n.6123A>C
c.369A>C (p.Gln123His)
n.6015A>C
c.22467A>C (p.Gln7489His)
c.22455A>C (p.Gln7485His)
c.22446A>C (p.Gln7482His)
c.22416A>C (p.Gln7472His)
c.22452A>C (p.Gln7484His)
c.22395A>C (p.Gln7465His)
c.22326A>C (p.Gln7442His)
c.22314A>C (p.Gln7438His)
c.22311A>C (p.Gln7437His)
c.22308A>C (p.Gln7436His)
c.22464A>C (p.Gln7488His)
c.22302A>C (p.Gln7434His)
c.20742A>C (p.Gln6914His)
c.20235A>C (p.Gln6745His)
c.15702A>C (p.Gln5234His)
c.22440A>C (p.Gln7480His)
c.22389A>C (p.Gln7463His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213675T=CA1673241110SYNE1c.22431A= (p.Gln7477=)
c.22218A= (p.Gln7406=)
c.21216A= (p.Gln7072=)
c.1197A= (p.Gln399=)
n.6123A=
c.369A= (p.Gln123=)
n.6015A=
c.22467A= (p.Gln7489=)
c.22455A= (p.Gln7485=)
c.22446A= (p.Gln7482=)
c.22416A= (p.Gln7472=)
c.22452A= (p.Gln7484=)
c.22395A= (p.Gln7465=)
c.22326A= (p.Gln7442=)
c.22314A= (p.Gln7438=)
c.22311A= (p.Gln7437=)
c.22308A= (p.Gln7436=)
c.22464A= (p.Gln7488=)
c.22302A= (p.Gln7434=)
c.20742A= (p.Gln6914=)
c.20235A= (p.Gln6745=)
c.15702A= (p.Gln5234=)
c.22440A= (p.Gln7480=)
c.22389A= (p.Gln7463=)
6g.152213676T>ACA366099248SYNE1c.22430A>T (p.Gln7477Leu)
c.22217A>T (p.Gln7406Leu)
c.21215A>T (p.Gln7072Leu)
c.1196A>T (p.Gln399Leu)
n.6122A>T
c.368A>T (p.Gln123Leu)
n.6014A>T
c.22466A>T (p.Gln7489Leu)
c.22454A>T (p.Gln7485Leu)
c.22445A>T (p.Gln7482Leu)
c.22415A>T (p.Gln7472Leu)
c.22451A>T (p.Gln7484Leu)
c.22394A>T (p.Gln7465Leu)
c.22325A>T (p.Gln7442Leu)
c.22313A>T (p.Gln7438Leu)
c.22310A>T (p.Gln7437Leu)
c.22307A>T (p.Gln7436Leu)
c.22463A>T (p.Gln7488Leu)
c.22301A>T (p.Gln7434Leu)
c.20741A>T (p.Gln6914Leu)
c.20234A>T (p.Gln6745Leu)
c.15701A>T (p.Gln5234Leu)
c.22439A>T (p.Gln7480Leu)
c.22388A>T (p.Gln7463Leu)
6g.152213676T>CCA366099249SYNE1c.22430A>G (p.Gln7477Arg)
c.22217A>G (p.Gln7406Arg)
c.21215A>G (p.Gln7072Arg)
c.1196A>G (p.Gln399Arg)
n.6122A>G
c.368A>G (p.Gln123Arg)
n.6014A>G
c.22466A>G (p.Gln7489Arg)
c.22454A>G (p.Gln7485Arg)
c.22445A>G (p.Gln7482Arg)
c.22415A>G (p.Gln7472Arg)
c.22451A>G (p.Gln7484Arg)
c.22394A>G (p.Gln7465Arg)
c.22325A>G (p.Gln7442Arg)
c.22313A>G (p.Gln7438Arg)
c.22310A>G (p.Gln7437Arg)
c.22307A>G (p.Gln7436Arg)
c.22463A>G (p.Gln7488Arg)
c.22301A>G (p.Gln7434Arg)
c.20741A>G (p.Gln6914Arg)
c.20234A>G (p.Gln6745Arg)
c.15701A>G (p.Gln5234Arg)
c.22439A>G (p.Gln7480Arg)
c.22388A>G (p.Gln7463Arg)
6g.152213676T>GCA366099251SYNE1c.22430A>C (p.Gln7477Pro)
c.22217A>C (p.Gln7406Pro)
c.21215A>C (p.Gln7072Pro)
c.1196A>C (p.Gln399Pro)
n.6122A>C
c.368A>C (p.Gln123Pro)
n.6014A>C
c.22466A>C (p.Gln7489Pro)
c.22454A>C (p.Gln7485Pro)
c.22445A>C (p.Gln7482Pro)
c.22415A>C (p.Gln7472Pro)
c.22451A>C (p.Gln7484Pro)
c.22394A>C (p.Gln7465Pro)
c.22325A>C (p.Gln7442Pro)
c.22313A>C (p.Gln7438Pro)
c.22310A>C (p.Gln7437Pro)
c.22307A>C (p.Gln7436Pro)
c.22463A>C (p.Gln7488Pro)
c.22301A>C (p.Gln7434Pro)
c.20741A>C (p.Gln6914Pro)
c.20234A>C (p.Gln6745Pro)
c.15701A>C (p.Gln5234Pro)
c.22439A>C (p.Gln7480Pro)
c.22388A>C (p.Gln7463Pro)
6g.152213677G>ACA366099253SYNE1c.22429C>T (p.Gln7477Ter)
c.22216C>T (p.Gln7406Ter)
c.21214C>T (p.Gln7072Ter)
c.1195C>T (p.Gln399Ter)
n.6121C>T
c.367C>T (p.Gln123Ter)
n.6013C>T
c.22465C>T (p.Gln7489Ter)
c.22453C>T (p.Gln7485Ter)
c.22444C>T (p.Gln7482Ter)
c.22414C>T (p.Gln7472Ter)
c.22450C>T (p.Gln7484Ter)
c.22393C>T (p.Gln7465Ter)
c.22324C>T (p.Gln7442Ter)
c.22312C>T (p.Gln7438Ter)
c.22309C>T (p.Gln7437Ter)
c.22306C>T (p.Gln7436Ter)
c.22462C>T (p.Gln7488Ter)
c.22300C>T (p.Gln7434Ter)
c.20740C>T (p.Gln6914Ter)
c.20233C>T (p.Gln6745Ter)
c.15700C>T (p.Gln5234Ter)
c.22438C>T (p.Gln7480Ter)
c.22387C>T (p.Gln7463Ter)
6g.152213677G>CCA366099255SYNE1c.22429C>G (p.Gln7477Glu)
c.22216C>G (p.Gln7406Glu)
c.21214C>G (p.Gln7072Glu)
c.1195C>G (p.Gln399Glu)
n.6121C>G
c.367C>G (p.Gln123Glu)
n.6013C>G
c.22465C>G (p.Gln7489Glu)
c.22453C>G (p.Gln7485Glu)
c.22444C>G (p.Gln7482Glu)
c.22414C>G (p.Gln7472Glu)
c.22450C>G (p.Gln7484Glu)
c.22393C>G (p.Gln7465Glu)
c.22324C>G (p.Gln7442Glu)
c.22312C>G (p.Gln7438Glu)
c.22309C>G (p.Gln7437Glu)
c.22306C>G (p.Gln7436Glu)
c.22462C>G (p.Gln7488Glu)
c.22300C>G (p.Gln7434Glu)
c.20740C>G (p.Gln6914Glu)
c.20233C>G (p.Gln6745Glu)
c.15700C>G (p.Gln5234Glu)
c.22438C>G (p.Gln7480Glu)
c.22387C>G (p.Gln7463Glu)
 dbSNP gnomAD v2 gnomAD v4
6g.152213677G=CA1673241111SYNE1c.22429C= (p.Gln7477=)
c.22216C= (p.Gln7406=)
c.21214C= (p.Gln7072=)
c.1195C= (p.Gln399=)
n.6121C=
c.367C= (p.Gln123=)
n.6013C=
c.22465C= (p.Gln7489=)
c.22453C= (p.Gln7485=)
c.22444C= (p.Gln7482=)
c.22414C= (p.Gln7472=)
c.22450C= (p.Gln7484=)
c.22393C= (p.Gln7465=)
c.22324C= (p.Gln7442=)
c.22312C= (p.Gln7438=)
c.22309C= (p.Gln7437=)
c.22306C= (p.Gln7436=)
c.22462C= (p.Gln7488=)
c.22300C= (p.Gln7434=)
c.20740C= (p.Gln6914=)
c.20233C= (p.Gln6745=)
c.15700C= (p.Gln5234=)
c.22438C= (p.Gln7480=)
c.22387C= (p.Gln7463=)
6g.152213677G>TCA366099256SYNE1c.22429C>A (p.Gln7477Lys)
c.22216C>A (p.Gln7406Lys)
c.21214C>A (p.Gln7072Lys)
c.1195C>A (p.Gln399Lys)
n.6121C>A
c.367C>A (p.Gln123Lys)
n.6013C>A
c.22465C>A (p.Gln7489Lys)
c.22453C>A (p.Gln7485Lys)
c.22444C>A (p.Gln7482Lys)
c.22414C>A (p.Gln7472Lys)
c.22450C>A (p.Gln7484Lys)
c.22393C>A (p.Gln7465Lys)
c.22324C>A (p.Gln7442Lys)
c.22312C>A (p.Gln7438Lys)
c.22309C>A (p.Gln7437Lys)
c.22306C>A (p.Gln7436Lys)
c.22462C>A (p.Gln7488Lys)
c.22300C>A (p.Gln7434Lys)
c.20740C>A (p.Gln6914Lys)
c.20233C>A (p.Gln6745Lys)
c.15700C>A (p.Gln5234Lys)
c.22438C>A (p.Gln7480Lys)
c.22387C>A (p.Gln7463Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152213678T>ACA366099258SYNE1c.22428A>T (p.Glu7476Asp)
c.22215A>T (p.Glu7405Asp)
c.21213A>T (p.Glu7071Asp)
c.1194A>T (p.Glu398Asp)
n.6120A>T
c.366A>T (p.Glu122Asp)
n.6012A>T
c.22464A>T (p.Glu7488Asp)
c.22452A>T (p.Glu7484Asp)
c.22443A>T (p.Glu7481Asp)
c.22413A>T (p.Glu7471Asp)
c.22449A>T (p.Glu7483Asp)
c.22392A>T (p.Glu7464Asp)
c.22323A>T (p.Glu7441Asp)
c.22311A>T (p.Glu7437Asp)
c.22308A>T (p.Glu7436Asp)
c.22305A>T (p.Glu7435Asp)
c.22461A>T (p.Glu7487Asp)
c.22299A>T (p.Glu7433Asp)
c.20739A>T (p.Glu6913Asp)
c.20232A>T (p.Glu6744Asp)
c.15699A>T (p.Glu5233Asp)
c.22437A>T (p.Glu7479Asp)
c.22386A>T (p.Glu7462Asp)
6g.152213678T>CCA452748455SYNE1c.22428A>G (p.Glu7476=)
c.22215A>G (p.Glu7405=)
c.21213A>G (p.Glu7071=)
c.1194A>G (p.Glu398=)
n.6120A>G
c.366A>G (p.Glu122=)
n.6012A>G
c.22464A>G (p.Glu7488=)
c.22452A>G (p.Glu7484=)
c.22443A>G (p.Glu7481=)
c.22413A>G (p.Glu7471=)
c.22449A>G (p.Glu7483=)
c.22392A>G (p.Glu7464=)
c.22323A>G (p.Glu7441=)
c.22311A>G (p.Glu7437=)
c.22308A>G (p.Glu7436=)
c.22305A>G (p.Glu7435=)
c.22461A>G (p.Glu7487=)
c.22299A>G (p.Glu7433=)
c.20739A>G (p.Glu6913=)
c.20232A>G (p.Glu6744=)
c.15699A>G (p.Glu5233=)
c.22437A>G (p.Glu7479=)
c.22386A>G (p.Glu7462=)
 gnomAD v4
6g.152213678T>GCA366099261SYNE1c.22428A>C (p.Glu7476Asp)
c.22215A>C (p.Glu7405Asp)
c.21213A>C (p.Glu7071Asp)
c.1194A>C (p.Glu398Asp)
n.6120A>C
c.366A>C (p.Glu122Asp)
n.6012A>C
c.22464A>C (p.Glu7488Asp)
c.22452A>C (p.Glu7484Asp)
c.22443A>C (p.Glu7481Asp)
c.22413A>C (p.Glu7471Asp)
c.22449A>C (p.Glu7483Asp)
c.22392A>C (p.Glu7464Asp)
c.22323A>C (p.Glu7441Asp)
c.22311A>C (p.Glu7437Asp)
c.22308A>C (p.Glu7436Asp)
c.22305A>C (p.Glu7435Asp)
c.22461A>C (p.Glu7487Asp)
c.22299A>C (p.Glu7433Asp)
c.20739A>C (p.Glu6913Asp)
c.20232A>C (p.Glu6744Asp)
c.15699A>C (p.Glu5233Asp)
c.22437A>C (p.Glu7479Asp)
c.22386A>C (p.Glu7462Asp)
6g.152213679T>ACA366099263SYNE1c.22427A>T (p.Glu7476Val)
c.22214A>T (p.Glu7405Val)
c.21212A>T (p.Glu7071Val)
c.1193A>T (p.Glu398Val)
n.6119A>T
c.365A>T (p.Glu122Val)
n.6011A>T
c.22463A>T (p.Glu7488Val)
c.22451A>T (p.Glu7484Val)
c.22442A>T (p.Glu7481Val)
c.22412A>T (p.Glu7471Val)
c.22448A>T (p.Glu7483Val)
c.22391A>T (p.Glu7464Val)
c.22322A>T (p.Glu7441Val)
c.22310A>T (p.Glu7437Val)
c.22307A>T (p.Glu7436Val)
c.22304A>T (p.Glu7435Val)
c.22460A>T (p.Glu7487Val)
c.22298A>T (p.Glu7433Val)
c.20738A>T (p.Glu6913Val)
c.20231A>T (p.Glu6744Val)
c.15698A>T (p.Glu5233Val)
c.22436A>T (p.Glu7479Val)
c.22385A>T (p.Glu7462Val)
6g.152213679T>CCA366099264SYNE1c.22427A>G (p.Glu7476Gly)
c.22214A>G (p.Glu7405Gly)
c.21212A>G (p.Glu7071Gly)
c.1193A>G (p.Glu398Gly)
n.6119A>G
c.365A>G (p.Glu122Gly)
n.6011A>G
c.22463A>G (p.Glu7488Gly)
c.22451A>G (p.Glu7484Gly)
c.22442A>G (p.Glu7481Gly)
c.22412A>G (p.Glu7471Gly)
c.22448A>G (p.Glu7483Gly)
c.22391A>G (p.Glu7464Gly)
c.22322A>G (p.Glu7441Gly)
c.22310A>G (p.Glu7437Gly)
c.22307A>G (p.Glu7436Gly)
c.22304A>G (p.Glu7435Gly)
c.22460A>G (p.Glu7487Gly)
c.22298A>G (p.Glu7433Gly)
c.20738A>G (p.Glu6913Gly)
c.20231A>G (p.Glu6744Gly)
c.15698A>G (p.Glu5233Gly)
c.22436A>G (p.Glu7479Gly)
c.22385A>G (p.Glu7462Gly)
6g.152213679T>GCA366099266SYNE1c.22427A>C (p.Glu7476Ala)
c.22214A>C (p.Glu7405Ala)
c.21212A>C (p.Glu7071Ala)
c.1193A>C (p.Glu398Ala)
n.6119A>C
c.365A>C (p.Glu122Ala)
n.6011A>C
c.22463A>C (p.Glu7488Ala)
c.22451A>C (p.Glu7484Ala)
c.22442A>C (p.Glu7481Ala)
c.22412A>C (p.Glu7471Ala)
c.22448A>C (p.Glu7483Ala)
c.22391A>C (p.Glu7464Ala)
c.22322A>C (p.Glu7441Ala)
c.22310A>C (p.Glu7437Ala)
c.22307A>C (p.Glu7436Ala)
c.22304A>C (p.Glu7435Ala)
c.22460A>C (p.Glu7487Ala)
c.22298A>C (p.Glu7433Ala)
c.20738A>C (p.Glu6913Ala)
c.20231A>C (p.Glu6744Ala)
c.15698A>C (p.Glu5233Ala)
c.22436A>C (p.Glu7479Ala)
c.22385A>C (p.Glu7462Ala)
6g.152213680C>ACA366099269SYNE1c.22426G>T (p.Glu7476Ter)
c.22213G>T (p.Glu7405Ter)
c.21211G>T (p.Glu7071Ter)
c.1192G>T (p.Glu398Ter)
n.6118G>T
c.364G>T (p.Glu122Ter)
n.6010G>T
c.22462G>T (p.Glu7488Ter)
c.22450G>T (p.Glu7484Ter)
c.22441G>T (p.Glu7481Ter)
c.22411G>T (p.Glu7471Ter)
c.22447G>T (p.Glu7483Ter)
c.22390G>T (p.Glu7464Ter)
c.22321G>T (p.Glu7441Ter)
c.22309G>T (p.Glu7437Ter)
c.22306G>T (p.Glu7436Ter)
c.22303G>T (p.Glu7435Ter)
c.22459G>T (p.Glu7487Ter)
c.22297G>T (p.Glu7433Ter)
c.20737G>T (p.Glu6913Ter)
c.20230G>T (p.Glu6744Ter)
c.15697G>T (p.Glu5233Ter)
c.22435G>T (p.Glu7479Ter)
c.22384G>T (p.Glu7462Ter)
 gnomAD v4
6g.152213680C>GCA366099270SYNE1c.22426G>C (p.Glu7476Gln)
c.22213G>C (p.Glu7405Gln)
c.21211G>C (p.Glu7071Gln)
c.1192G>C (p.Glu398Gln)
n.6118G>C
c.364G>C (p.Glu122Gln)
n.6010G>C
c.22462G>C (p.Glu7488Gln)
c.22450G>C (p.Glu7484Gln)
c.22441G>C (p.Glu7481Gln)
c.22411G>C (p.Glu7471Gln)
c.22447G>C (p.Glu7483Gln)
c.22390G>C (p.Glu7464Gln)
c.22321G>C (p.Glu7441Gln)
c.22309G>C (p.Glu7437Gln)
c.22306G>C (p.Glu7436Gln)
c.22303G>C (p.Glu7435Gln)
c.22459G>C (p.Glu7487Gln)
c.22297G>C (p.Glu7433Gln)
c.20737G>C (p.Glu6913Gln)
c.20230G>C (p.Glu6744Gln)
c.15697G>C (p.Glu5233Gln)
c.22435G>C (p.Glu7479Gln)
c.22384G>C (p.Glu7462Gln)
6g.152213680C>TCA366099272SYNE1c.22426G>A (p.Glu7476Lys)
c.22213G>A (p.Glu7405Lys)
c.21211G>A (p.Glu7071Lys)
c.1192G>A (p.Glu398Lys)
n.6118G>A
c.364G>A (p.Glu122Lys)
n.6010G>A
c.22462G>A (p.Glu7488Lys)
c.22450G>A (p.Glu7484Lys)
c.22441G>A (p.Glu7481Lys)
c.22411G>A (p.Glu7471Lys)
c.22447G>A (p.Glu7483Lys)
c.22390G>A (p.Glu7464Lys)
c.22321G>A (p.Glu7441Lys)
c.22309G>A (p.Glu7437Lys)
c.22306G>A (p.Glu7436Lys)
c.22303G>A (p.Glu7435Lys)
c.22459G>A (p.Glu7487Lys)
c.22297G>A (p.Glu7433Lys)
c.20737G>A (p.Glu6913Lys)
c.20230G>A (p.Glu6744Lys)
c.15697G>A (p.Glu5233Lys)
c.22435G>A (p.Glu7479Lys)
c.22384G>A (p.Glu7462Lys)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213681T>ACA452748457SYNE1c.22425A>T (p.Thr7475=)
c.22212A>T (p.Thr7404=)
c.21210A>T (p.Thr7070=)
c.1191A>T (p.Thr397=)
n.6117A>T
c.363A>T (p.Thr121=)
n.6009A>T
c.22461A>T (p.Thr7487=)
c.22449A>T (p.Thr7483=)
c.22440A>T (p.Thr7480=)
c.22410A>T (p.Thr7470=)
c.22446A>T (p.Thr7482=)
c.22389A>T (p.Thr7463=)
c.22320A>T (p.Thr7440=)
c.22308A>T (p.Thr7436=)
c.22305A>T (p.Thr7435=)
c.22302A>T (p.Thr7434=)
c.22458A>T (p.Thr7486=)
c.22296A>T (p.Thr7432=)
c.20736A>T (p.Thr6912=)
c.20229A>T (p.Thr6743=)
c.15696A>T (p.Thr5232=)
c.22434A>T (p.Thr7478=)
c.22383A>T (p.Thr7461=)
6g.152213681T>CCA452748458SYNE1c.22425A>G (p.Thr7475=)
c.22212A>G (p.Thr7404=)
c.21210A>G (p.Thr7070=)
c.1191A>G (p.Thr397=)
n.6117A>G
c.363A>G (p.Thr121=)
n.6009A>G
c.22461A>G (p.Thr7487=)
c.22449A>G (p.Thr7483=)
c.22440A>G (p.Thr7480=)
c.22410A>G (p.Thr7470=)
c.22446A>G (p.Thr7482=)
c.22389A>G (p.Thr7463=)
c.22320A>G (p.Thr7440=)
c.22308A>G (p.Thr7436=)
c.22305A>G (p.Thr7435=)
c.22302A>G (p.Thr7434=)
c.22458A>G (p.Thr7486=)
c.22296A>G (p.Thr7432=)
c.20736A>G (p.Thr6912=)
c.20229A>G (p.Thr6743=)
c.15696A>G (p.Thr5232=)
c.22434A>G (p.Thr7478=)
c.22383A>G (p.Thr7461=)
 dbSNP gnomAD v2 gnomAD v4
6g.152213681T>GCA452748459SYNE1c.22425A>C (p.Thr7475=)
c.22212A>C (p.Thr7404=)
c.21210A>C (p.Thr7070=)
c.1191A>C (p.Thr397=)
n.6117A>C
c.363A>C (p.Thr121=)
n.6009A>C
c.22461A>C (p.Thr7487=)
c.22449A>C (p.Thr7483=)
c.22440A>C (p.Thr7480=)
c.22410A>C (p.Thr7470=)
c.22446A>C (p.Thr7482=)
c.22389A>C (p.Thr7463=)
c.22320A>C (p.Thr7440=)
c.22308A>C (p.Thr7436=)
c.22305A>C (p.Thr7435=)
c.22302A>C (p.Thr7434=)
c.22458A>C (p.Thr7486=)
c.22296A>C (p.Thr7432=)
c.20736A>C (p.Thr6912=)
c.20229A>C (p.Thr6743=)
c.15696A>C (p.Thr5232=)
c.22434A>C (p.Thr7478=)
c.22383A>C (p.Thr7461=)
6g.152213681T=CA1673241112SYNE1c.22425A= (p.Thr7475=)
c.22212A= (p.Thr7404=)
c.21210A= (p.Thr7070=)
c.1191A= (p.Thr397=)
n.6117A=
c.363A= (p.Thr121=)
n.6009A=
c.22461A= (p.Thr7487=)
c.22449A= (p.Thr7483=)
c.22440A= (p.Thr7480=)
c.22410A= (p.Thr7470=)
c.22446A= (p.Thr7482=)
c.22389A= (p.Thr7463=)
c.22320A= (p.Thr7440=)
c.22308A= (p.Thr7436=)
c.22305A= (p.Thr7435=)
c.22302A= (p.Thr7434=)
c.22458A= (p.Thr7486=)
c.22296A= (p.Thr7432=)
c.20736A= (p.Thr6912=)
c.20229A= (p.Thr6743=)
c.15696A= (p.Thr5232=)
c.22434A= (p.Thr7478=)
c.22383A= (p.Thr7461=)
6g.152213682G>ACA366099275SYNE1c.22424C>T (p.Thr7475Ile)
c.22211C>T (p.Thr7404Ile)
c.21209C>T (p.Thr7070Ile)
c.1190C>T (p.Thr397Ile)
n.6116C>T
c.362C>T (p.Thr121Ile)
n.6008C>T
c.22460C>T (p.Thr7487Ile)
c.22448C>T (p.Thr7483Ile)
c.22439C>T (p.Thr7480Ile)
c.22409C>T (p.Thr7470Ile)
c.22445C>T (p.Thr7482Ile)
c.22388C>T (p.Thr7463Ile)
c.22319C>T (p.Thr7440Ile)
c.22307C>T (p.Thr7436Ile)
c.22304C>T (p.Thr7435Ile)
c.22301C>T (p.Thr7434Ile)
c.22457C>T (p.Thr7486Ile)
c.22295C>T (p.Thr7432Ile)
c.20735C>T (p.Thr6912Ile)
c.20228C>T (p.Thr6743Ile)
c.15695C>T (p.Thr5232Ile)
c.22433C>T (p.Thr7478Ile)
c.22382C>T (p.Thr7461Ile)
6g.152213682G>CCA366099278SYNE1c.22424C>G (p.Thr7475Arg)
c.22211C>G (p.Thr7404Arg)
c.21209C>G (p.Thr7070Arg)
c.1190C>G (p.Thr397Arg)
n.6116C>G
c.362C>G (p.Thr121Arg)
n.6008C>G
c.22460C>G (p.Thr7487Arg)
c.22448C>G (p.Thr7483Arg)
c.22439C>G (p.Thr7480Arg)
c.22409C>G (p.Thr7470Arg)
c.22445C>G (p.Thr7482Arg)
c.22388C>G (p.Thr7463Arg)
c.22319C>G (p.Thr7440Arg)
c.22307C>G (p.Thr7436Arg)
c.22304C>G (p.Thr7435Arg)
c.22301C>G (p.Thr7434Arg)
c.22457C>G (p.Thr7486Arg)
c.22295C>G (p.Thr7432Arg)
c.20735C>G (p.Thr6912Arg)
c.20228C>G (p.Thr6743Arg)
c.15695C>G (p.Thr5232Arg)
c.22433C>G (p.Thr7478Arg)
c.22382C>G (p.Thr7461Arg)
6g.152213682G>TCA366099276SYNE1c.22424C>A (p.Thr7475Lys)
c.22211C>A (p.Thr7404Lys)
c.21209C>A (p.Thr7070Lys)
c.1190C>A (p.Thr397Lys)
n.6116C>A
c.362C>A (p.Thr121Lys)
n.6008C>A
c.22460C>A (p.Thr7487Lys)
c.22448C>A (p.Thr7483Lys)
c.22439C>A (p.Thr7480Lys)
c.22409C>A (p.Thr7470Lys)
c.22445C>A (p.Thr7482Lys)
c.22388C>A (p.Thr7463Lys)
c.22319C>A (p.Thr7440Lys)
c.22307C>A (p.Thr7436Lys)
c.22304C>A (p.Thr7435Lys)
c.22301C>A (p.Thr7434Lys)
c.22457C>A (p.Thr7486Lys)
c.22295C>A (p.Thr7432Lys)
c.20735C>A (p.Thr6912Lys)
c.20228C>A (p.Thr6743Lys)
c.15695C>A (p.Thr5232Lys)
c.22433C>A (p.Thr7478Lys)
c.22382C>A (p.Thr7461Lys)
6g.152213683T>ACA366099280SYNE1c.22423A>T (p.Thr7475Ser)
c.22210A>T (p.Thr7404Ser)
c.21208A>T (p.Thr7070Ser)
c.1189A>T (p.Thr397Ser)
n.6115A>T
c.361A>T (p.Thr121Ser)
n.6007A>T
c.22459A>T (p.Thr7487Ser)
c.22447A>T (p.Thr7483Ser)
c.22438A>T (p.Thr7480Ser)
c.22408A>T (p.Thr7470Ser)
c.22444A>T (p.Thr7482Ser)
c.22387A>T (p.Thr7463Ser)
c.22318A>T (p.Thr7440Ser)
c.22306A>T (p.Thr7436Ser)
c.22303A>T (p.Thr7435Ser)
c.22300A>T (p.Thr7434Ser)
c.22456A>T (p.Thr7486Ser)
c.22294A>T (p.Thr7432Ser)
c.20734A>T (p.Thr6912Ser)
c.20227A>T (p.Thr6743Ser)
c.15694A>T (p.Thr5232Ser)
c.22432A>T (p.Thr7478Ser)
c.22381A>T (p.Thr7461Ser)
 dbSNP
6g.152213683T>CCA366099281SYNE1c.22423A>G (p.Thr7475Ala)
c.22210A>G (p.Thr7404Ala)
c.21208A>G (p.Thr7070Ala)
c.1189A>G (p.Thr397Ala)
n.6115A>G
c.361A>G (p.Thr121Ala)
n.6007A>G
c.22459A>G (p.Thr7487Ala)
c.22447A>G (p.Thr7483Ala)
c.22438A>G (p.Thr7480Ala)
c.22408A>G (p.Thr7470Ala)
c.22444A>G (p.Thr7482Ala)
c.22387A>G (p.Thr7463Ala)
c.22318A>G (p.Thr7440Ala)
c.22306A>G (p.Thr7436Ala)
c.22303A>G (p.Thr7435Ala)
c.22300A>G (p.Thr7434Ala)
c.22456A>G (p.Thr7486Ala)
c.22294A>G (p.Thr7432Ala)
c.20734A>G (p.Thr6912Ala)
c.20227A>G (p.Thr6743Ala)
c.15694A>G (p.Thr5232Ala)
c.22432A>G (p.Thr7478Ala)
c.22381A>G (p.Thr7461Ala)
6g.152213683T>GCA366099283SYNE1c.22423A>C (p.Thr7475Pro)
c.22210A>C (p.Thr7404Pro)
c.21208A>C (p.Thr7070Pro)
c.1189A>C (p.Thr397Pro)
n.6115A>C
c.361A>C (p.Thr121Pro)
n.6007A>C
c.22459A>C (p.Thr7487Pro)
c.22447A>C (p.Thr7483Pro)
c.22438A>C (p.Thr7480Pro)
c.22408A>C (p.Thr7470Pro)
c.22444A>C (p.Thr7482Pro)
c.22387A>C (p.Thr7463Pro)
c.22318A>C (p.Thr7440Pro)
c.22306A>C (p.Thr7436Pro)
c.22303A>C (p.Thr7435Pro)
c.22300A>C (p.Thr7434Pro)
c.22456A>C (p.Thr7486Pro)
c.22294A>C (p.Thr7432Pro)
c.20734A>C (p.Thr6912Pro)
c.20227A>C (p.Thr6743Pro)
c.15694A>C (p.Thr5232Pro)
c.22432A>C (p.Thr7478Pro)
c.22381A>C (p.Thr7461Pro)
6g.152213683T=CA1673241113SYNE1c.22423A= (p.Thr7475=)
c.22210A= (p.Thr7404=)
c.21208A= (p.Thr7070=)
c.1189A= (p.Thr397=)
n.6115A=
c.361A= (p.Thr121=)
n.6007A=
c.22459A= (p.Thr7487=)
c.22447A= (p.Thr7483=)
c.22438A= (p.Thr7480=)
c.22408A= (p.Thr7470=)
c.22444A= (p.Thr7482=)
c.22387A= (p.Thr7463=)
c.22318A= (p.Thr7440=)
c.22306A= (p.Thr7436=)
c.22303A= (p.Thr7435=)
c.22300A= (p.Thr7434=)
c.22456A= (p.Thr7486=)
c.22294A= (p.Thr7432=)
c.20734A= (p.Thr6912=)
c.20227A= (p.Thr6743=)
c.15694A= (p.Thr5232=)
c.22432A= (p.Thr7478=)
c.22381A= (p.Thr7461=)
6g.152213684C>ACA366099285SYNE1c.22422G>T (p.Gln7474His)
c.22209G>T (p.Gln7403His)
c.21207G>T (p.Gln7069His)
c.1188G>T (p.Gln396His)
n.6114G>T
c.360G>T (p.Gln120His)
n.6006G>T
c.22458G>T (p.Gln7486His)
c.22446G>T (p.Gln7482His)
c.22437G>T (p.Gln7479His)
c.22407G>T (p.Gln7469His)
c.22443G>T (p.Gln7481His)
c.22386G>T (p.Gln7462His)
c.22317G>T (p.Gln7439His)
c.22305G>T (p.Gln7435His)
c.22302G>T (p.Gln7434His)
c.22299G>T (p.Gln7433His)
c.22455G>T (p.Gln7485His)
c.22293G>T (p.Gln7431His)
c.20733G>T (p.Gln6911His)
c.20226G>T (p.Gln6742His)
c.15693G>T (p.Gln5231His)
c.22431G>T (p.Gln7477His)
c.22380G>T (p.Gln7460His)
6g.152213684C=CA1673241114SYNE1c.22422G= (p.Gln7474=)
c.22209G= (p.Gln7403=)
c.21207G= (p.Gln7069=)
c.1188G= (p.Gln396=)
n.6114G=
c.360G= (p.Gln120=)
n.6006G=
c.22458G= (p.Gln7486=)
c.22446G= (p.Gln7482=)
c.22437G= (p.Gln7479=)
c.22407G= (p.Gln7469=)
c.22443G= (p.Gln7481=)
c.22386G= (p.Gln7462=)
c.22317G= (p.Gln7439=)
c.22305G= (p.Gln7435=)
c.22302G= (p.Gln7434=)
c.22299G= (p.Gln7433=)
c.22455G= (p.Gln7485=)
c.22293G= (p.Gln7431=)
c.20733G= (p.Gln6911=)
c.20226G= (p.Gln6742=)
c.15693G= (p.Gln5231=)
c.22431G= (p.Gln7477=)
c.22380G= (p.Gln7460=)
6g.152213684C>GCA366099287SYNE1c.22422G>C (p.Gln7474His)
c.22209G>C (p.Gln7403His)
c.21207G>C (p.Gln7069His)
c.1188G>C (p.Gln396His)
n.6114G>C
c.360G>C (p.Gln120His)
n.6006G>C
c.22458G>C (p.Gln7486His)
c.22446G>C (p.Gln7482His)
c.22437G>C (p.Gln7479His)
c.22407G>C (p.Gln7469His)
c.22443G>C (p.Gln7481His)
c.22386G>C (p.Gln7462His)
c.22317G>C (p.Gln7439His)
c.22305G>C (p.Gln7435His)
c.22302G>C (p.Gln7434His)
c.22299G>C (p.Gln7433His)
c.22455G>C (p.Gln7485His)
c.22293G>C (p.Gln7431His)
c.20733G>C (p.Gln6911His)
c.20226G>C (p.Gln6742His)
c.15693G>C (p.Gln5231His)
c.22431G>C (p.Gln7477His)
c.22380G>C (p.Gln7460His)
 gnomAD v4
6g.152213684C>TCA452748460SYNE1c.22422G>A (p.Gln7474=)
c.22209G>A (p.Gln7403=)
c.21207G>A (p.Gln7069=)
c.1188G>A (p.Gln396=)
n.6114G>A
c.360G>A (p.Gln120=)
n.6006G>A
c.22458G>A (p.Gln7486=)
c.22446G>A (p.Gln7482=)
c.22437G>A (p.Gln7479=)
c.22407G>A (p.Gln7469=)
c.22443G>A (p.Gln7481=)
c.22386G>A (p.Gln7462=)
c.22317G>A (p.Gln7439=)
c.22305G>A (p.Gln7435=)
c.22302G>A (p.Gln7434=)
c.22299G>A (p.Gln7433=)
c.22455G>A (p.Gln7485=)
c.22293G>A (p.Gln7431=)
c.20733G>A (p.Gln6911=)
c.20226G>A (p.Gln6742=)
c.15693G>A (p.Gln5231=)
c.22431G>A (p.Gln7477=)
c.22380G>A (p.Gln7460=)
 dbSNP gnomAD v3 gnomAD v4
6g.152213685T>ACA366099289SYNE1c.22421A>T (p.Gln7474Leu)
c.22208A>T (p.Gln7403Leu)
c.21206A>T (p.Gln7069Leu)
c.1187A>T (p.Gln396Leu)
n.6113A>T
c.359A>T (p.Gln120Leu)
n.6005A>T
c.22457A>T (p.Gln7486Leu)
c.22445A>T (p.Gln7482Leu)
c.22436A>T (p.Gln7479Leu)
c.22406A>T (p.Gln7469Leu)
c.22442A>T (p.Gln7481Leu)
c.22385A>T (p.Gln7462Leu)
c.22316A>T (p.Gln7439Leu)
c.22304A>T (p.Gln7435Leu)
c.22301A>T (p.Gln7434Leu)
c.22298A>T (p.Gln7433Leu)
c.22454A>T (p.Gln7485Leu)
c.22292A>T (p.Gln7431Leu)
c.20732A>T (p.Gln6911Leu)
c.20225A>T (p.Gln6742Leu)
c.15692A>T (p.Gln5231Leu)
c.22430A>T (p.Gln7477Leu)
c.22379A>T (p.Gln7460Leu)
6g.152213685T>CCA366099291SYNE1c.22421A>G (p.Gln7474Arg)
c.22208A>G (p.Gln7403Arg)
c.21206A>G (p.Gln7069Arg)
c.1187A>G (p.Gln396Arg)
n.6113A>G
c.359A>G (p.Gln120Arg)
n.6005A>G
c.22457A>G (p.Gln7486Arg)
c.22445A>G (p.Gln7482Arg)
c.22436A>G (p.Gln7479Arg)
c.22406A>G (p.Gln7469Arg)
c.22442A>G (p.Gln7481Arg)
c.22385A>G (p.Gln7462Arg)
c.22316A>G (p.Gln7439Arg)
c.22304A>G (p.Gln7435Arg)
c.22301A>G (p.Gln7434Arg)
c.22298A>G (p.Gln7433Arg)
c.22454A>G (p.Gln7485Arg)
c.22292A>G (p.Gln7431Arg)
c.20732A>G (p.Gln6911Arg)
c.20225A>G (p.Gln6742Arg)
c.15692A>G (p.Gln5231Arg)
c.22430A>G (p.Gln7477Arg)
c.22379A>G (p.Gln7460Arg)
6g.152213685T>GCA366099293SYNE1c.22421A>C (p.Gln7474Pro)
c.22208A>C (p.Gln7403Pro)
c.21206A>C (p.Gln7069Pro)
c.1187A>C (p.Gln396Pro)
n.6113A>C
c.359A>C (p.Gln120Pro)
n.6005A>C
c.22457A>C (p.Gln7486Pro)
c.22445A>C (p.Gln7482Pro)
c.22436A>C (p.Gln7479Pro)
c.22406A>C (p.Gln7469Pro)
c.22442A>C (p.Gln7481Pro)
c.22385A>C (p.Gln7462Pro)
c.22316A>C (p.Gln7439Pro)
c.22304A>C (p.Gln7435Pro)
c.22301A>C (p.Gln7434Pro)
c.22298A>C (p.Gln7433Pro)
c.22454A>C (p.Gln7485Pro)
c.22292A>C (p.Gln7431Pro)
c.20732A>C (p.Gln6911Pro)
c.20225A>C (p.Gln6742Pro)
c.15692A>C (p.Gln5231Pro)
c.22430A>C (p.Gln7477Pro)
c.22379A>C (p.Gln7460Pro)
6g.152213686G>ACA366099294SYNE1c.22420C>T (p.Gln7474Ter)
c.22207C>T (p.Gln7403Ter)
c.21205C>T (p.Gln7069Ter)
c.1186C>T (p.Gln396Ter)
n.6112C>T
c.358C>T (p.Gln120Ter)
n.6004C>T
c.22456C>T (p.Gln7486Ter)
c.22444C>T (p.Gln7482Ter)
c.22435C>T (p.Gln7479Ter)
c.22405C>T (p.Gln7469Ter)
c.22441C>T (p.Gln7481Ter)
c.22384C>T (p.Gln7462Ter)
c.22315C>T (p.Gln7439Ter)
c.22303C>T (p.Gln7435Ter)
c.22300C>T (p.Gln7434Ter)
c.22297C>T (p.Gln7433Ter)
c.22453C>T (p.Gln7485Ter)
c.22291C>T (p.Gln7431Ter)
c.20731C>T (p.Gln6911Ter)
c.20224C>T (p.Gln6742Ter)
c.15691C>T (p.Gln5231Ter)
c.22429C>T (p.Gln7477Ter)
c.22378C>T (p.Gln7460Ter)
6g.152213686G>CCA366099296SYNE1c.22420C>G (p.Gln7474Glu)
c.22207C>G (p.Gln7403Glu)
c.21205C>G (p.Gln7069Glu)
c.1186C>G (p.Gln396Glu)
n.6112C>G
c.358C>G (p.Gln120Glu)
n.6004C>G
c.22456C>G (p.Gln7486Glu)
c.22444C>G (p.Gln7482Glu)
c.22435C>G (p.Gln7479Glu)
c.22405C>G (p.Gln7469Glu)
c.22441C>G (p.Gln7481Glu)
c.22384C>G (p.Gln7462Glu)
c.22315C>G (p.Gln7439Glu)
c.22303C>G (p.Gln7435Glu)
c.22300C>G (p.Gln7434Glu)
c.22297C>G (p.Gln7433Glu)
c.22453C>G (p.Gln7485Glu)
c.22291C>G (p.Gln7431Glu)
c.20731C>G (p.Gln6911Glu)
c.20224C>G (p.Gln6742Glu)
c.15691C>G (p.Gln5231Glu)
c.22429C>G (p.Gln7477Glu)
c.22378C>G (p.Gln7460Glu)
6g.152213686G>TCA366099298SYNE1c.22420C>A (p.Gln7474Lys)
c.22207C>A (p.Gln7403Lys)
c.21205C>A (p.Gln7069Lys)
c.1186C>A (p.Gln396Lys)
n.6112C>A
c.358C>A (p.Gln120Lys)
n.6004C>A
c.22456C>A (p.Gln7486Lys)
c.22444C>A (p.Gln7482Lys)
c.22435C>A (p.Gln7479Lys)
c.22405C>A (p.Gln7469Lys)
c.22441C>A (p.Gln7481Lys)
c.22384C>A (p.Gln7462Lys)
c.22315C>A (p.Gln7439Lys)
c.22303C>A (p.Gln7435Lys)
c.22300C>A (p.Gln7434Lys)
c.22297C>A (p.Gln7433Lys)
c.22453C>A (p.Gln7485Lys)
c.22291C>A (p.Gln7431Lys)
c.20731C>A (p.Gln6911Lys)
c.20224C>A (p.Gln6742Lys)
c.15691C>A (p.Gln5231Lys)
c.22429C>A (p.Gln7477Lys)
c.22378C>A (p.Gln7460Lys)
6g.152213687A=CA1673241115SYNE1c.22419T= (p.Val7473=)
c.22206T= (p.Val7402=)
c.21204T= (p.Val7068=)
c.1185T= (p.Val395=)
n.6111T=
c.357T= (p.Val119=)
n.6003T=
c.22455T= (p.Val7485=)
c.22443T= (p.Val7481=)
c.22434T= (p.Val7478=)
c.22404T= (p.Val7468=)
c.22440T= (p.Val7480=)
c.22383T= (p.Val7461=)
c.22314T= (p.Val7438=)
c.22302T= (p.Val7434=)
c.22299T= (p.Val7433=)
c.22296T= (p.Val7432=)
c.22452T= (p.Val7484=)
c.22290T= (p.Val7430=)
c.20730T= (p.Val6910=)
c.20223T= (p.Val6741=)
c.15690T= (p.Val5230=)
c.22428T= (p.Val7476=)
c.22377T= (p.Val7459=)
6g.152213687A>CCA452748461SYNE1c.22419T>G (p.Val7473=)
c.22206T>G (p.Val7402=)
c.21204T>G (p.Val7068=)
c.1185T>G (p.Val395=)
n.6111T>G
c.357T>G (p.Val119=)
n.6003T>G
c.22455T>G (p.Val7485=)
c.22443T>G (p.Val7481=)
c.22434T>G (p.Val7478=)
c.22404T>G (p.Val7468=)
c.22440T>G (p.Val7480=)
c.22383T>G (p.Val7461=)
c.22314T>G (p.Val7438=)
c.22302T>G (p.Val7434=)
c.22299T>G (p.Val7433=)
c.22296T>G (p.Val7432=)
c.22452T>G (p.Val7484=)
c.22290T>G (p.Val7430=)
c.20730T>G (p.Val6910=)
c.20223T>G (p.Val6741=)
c.15690T>G (p.Val5230=)
c.22428T>G (p.Val7476=)
c.22377T>G (p.Val7459=)
 dbSNP
6g.152213687A>GCA452748462SYNE1c.22419T>C (p.Val7473=)
c.22206T>C (p.Val7402=)
c.21204T>C (p.Val7068=)
c.1185T>C (p.Val395=)
n.6111T>C
c.357T>C (p.Val119=)
n.6003T>C
c.22455T>C (p.Val7485=)
c.22443T>C (p.Val7481=)
c.22434T>C (p.Val7478=)
c.22404T>C (p.Val7468=)
c.22440T>C (p.Val7480=)
c.22383T>C (p.Val7461=)
c.22314T>C (p.Val7438=)
c.22302T>C (p.Val7434=)
c.22299T>C (p.Val7433=)
c.22296T>C (p.Val7432=)
c.22452T>C (p.Val7484=)
c.22290T>C (p.Val7430=)
c.20730T>C (p.Val6910=)
c.20223T>C (p.Val6741=)
c.15690T>C (p.Val5230=)
c.22428T>C (p.Val7476=)
c.22377T>C (p.Val7459=)
6g.152213687A>TCA4053884SYNE1c.22419T>A (p.Val7473=)
c.22206T>A (p.Val7402=)
c.21204T>A (p.Val7068=)
c.1185T>A (p.Val395=)
n.6111T>A
c.357T>A (p.Val119=)
n.6003T>A
c.22455T>A (p.Val7485=)
c.22443T>A (p.Val7481=)
c.22434T>A (p.Val7478=)
c.22404T>A (p.Val7468=)
c.22440T>A (p.Val7480=)
c.22383T>A (p.Val7461=)
c.22314T>A (p.Val7438=)
c.22302T>A (p.Val7434=)
c.22299T>A (p.Val7433=)
c.22296T>A (p.Val7432=)
c.22452T>A (p.Val7484=)
c.22290T>A (p.Val7430=)
c.20730T>A (p.Val6910=)
c.20223T>A (p.Val6741=)
c.15690T>A (p.Val5230=)
c.22428T>A (p.Val7476=)
c.22377T>A (p.Val7459=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213688A>CCA366099302SYNE1c.22418T>G (p.Val7473Gly)
c.22205T>G (p.Val7402Gly)
c.21203T>G (p.Val7068Gly)
c.1184T>G (p.Val395Gly)
n.6110T>G
c.356T>G (p.Val119Gly)
n.6002T>G
c.22454T>G (p.Val7485Gly)
c.22442T>G (p.Val7481Gly)
c.22433T>G (p.Val7478Gly)
c.22403T>G (p.Val7468Gly)
c.22439T>G (p.Val7480Gly)
c.22382T>G (p.Val7461Gly)
c.22313T>G (p.Val7438Gly)
c.22301T>G (p.Val7434Gly)
c.22298T>G (p.Val7433Gly)
c.22295T>G (p.Val7432Gly)
c.22451T>G (p.Val7484Gly)
c.22289T>G (p.Val7430Gly)
c.20729T>G (p.Val6910Gly)
c.20222T>G (p.Val6741Gly)
c.15689T>G (p.Val5230Gly)
c.22427T>G (p.Val7476Gly)
c.22376T>G (p.Val7459Gly)
6g.152213688A>GCA366099306SYNE1c.22418T>C (p.Val7473Ala)
c.22205T>C (p.Val7402Ala)
c.21203T>C (p.Val7068Ala)
c.1184T>C (p.Val395Ala)
n.6110T>C
c.356T>C (p.Val119Ala)
n.6002T>C
c.22454T>C (p.Val7485Ala)
c.22442T>C (p.Val7481Ala)
c.22433T>C (p.Val7478Ala)
c.22403T>C (p.Val7468Ala)
c.22439T>C (p.Val7480Ala)
c.22382T>C (p.Val7461Ala)
c.22313T>C (p.Val7438Ala)
c.22301T>C (p.Val7434Ala)
c.22298T>C (p.Val7433Ala)
c.22295T>C (p.Val7432Ala)
c.22451T>C (p.Val7484Ala)
c.22289T>C (p.Val7430Ala)
c.20729T>C (p.Val6910Ala)
c.20222T>C (p.Val6741Ala)
c.15689T>C (p.Val5230Ala)
c.22427T>C (p.Val7476Ala)
c.22376T>C (p.Val7459Ala)
6g.152213688A>TCA366099304SYNE1c.22418T>A (p.Val7473Asp)
c.22205T>A (p.Val7402Asp)
c.21203T>A (p.Val7068Asp)
c.1184T>A (p.Val395Asp)
n.6110T>A
c.356T>A (p.Val119Asp)
n.6002T>A
c.22454T>A (p.Val7485Asp)
c.22442T>A (p.Val7481Asp)
c.22433T>A (p.Val7478Asp)
c.22403T>A (p.Val7468Asp)
c.22439T>A (p.Val7480Asp)
c.22382T>A (p.Val7461Asp)
c.22313T>A (p.Val7438Asp)
c.22301T>A (p.Val7434Asp)
c.22298T>A (p.Val7433Asp)
c.22295T>A (p.Val7432Asp)
c.22451T>A (p.Val7484Asp)
c.22289T>A (p.Val7430Asp)
c.20729T>A (p.Val6910Asp)
c.20222T>A (p.Val6741Asp)
c.15689T>A (p.Val5230Asp)
c.22427T>A (p.Val7476Asp)
c.22376T>A (p.Val7459Asp)
6g.152213689C>ACA366099308SYNE1c.22417G>T (p.Val7473Phe)
c.22204G>T (p.Val7402Phe)
c.21202G>T (p.Val7068Phe)
c.1183G>T (p.Val395Phe)
n.6109G>T
c.355G>T (p.Val119Phe)
n.6001G>T
c.22453G>T (p.Val7485Phe)
c.22441G>T (p.Val7481Phe)
c.22432G>T (p.Val7478Phe)
c.22402G>T (p.Val7468Phe)
c.22438G>T (p.Val7480Phe)
c.22381G>T (p.Val7461Phe)
c.22312G>T (p.Val7438Phe)
c.22300G>T (p.Val7434Phe)
c.22297G>T (p.Val7433Phe)
c.22294G>T (p.Val7432Phe)
c.22450G>T (p.Val7484Phe)
c.22288G>T (p.Val7430Phe)
c.20728G>T (p.Val6910Phe)
c.20221G>T (p.Val6741Phe)
c.15688G>T (p.Val5230Phe)
c.22426G>T (p.Val7476Phe)
c.22375G>T (p.Val7459Phe)
6g.152213689C>GCA366099310SYNE1c.22417G>C (p.Val7473Leu)
c.22204G>C (p.Val7402Leu)
c.21202G>C (p.Val7068Leu)
c.1183G>C (p.Val395Leu)
n.6109G>C
c.355G>C (p.Val119Leu)
n.6001G>C
c.22453G>C (p.Val7485Leu)
c.22441G>C (p.Val7481Leu)
c.22432G>C (p.Val7478Leu)
c.22402G>C (p.Val7468Leu)
c.22438G>C (p.Val7480Leu)
c.22381G>C (p.Val7461Leu)
c.22312G>C (p.Val7438Leu)
c.22300G>C (p.Val7434Leu)
c.22297G>C (p.Val7433Leu)
c.22294G>C (p.Val7432Leu)
c.22450G>C (p.Val7484Leu)
c.22288G>C (p.Val7430Leu)
c.20728G>C (p.Val6910Leu)
c.20221G>C (p.Val6741Leu)
c.15688G>C (p.Val5230Leu)
c.22426G>C (p.Val7476Leu)
c.22375G>C (p.Val7459Leu)
6g.152213689C>TCA366099312SYNE1c.22417G>A (p.Val7473Ile)
c.22204G>A (p.Val7402Ile)
c.21202G>A (p.Val7068Ile)
c.1183G>A (p.Val395Ile)
n.6109G>A
c.355G>A (p.Val119Ile)
n.6001G>A
c.22453G>A (p.Val7485Ile)
c.22441G>A (p.Val7481Ile)
c.22432G>A (p.Val7478Ile)
c.22402G>A (p.Val7468Ile)
c.22438G>A (p.Val7480Ile)
c.22381G>A (p.Val7461Ile)
c.22312G>A (p.Val7438Ile)
c.22300G>A (p.Val7434Ile)
c.22297G>A (p.Val7433Ile)
c.22294G>A (p.Val7432Ile)
c.22450G>A (p.Val7484Ile)
c.22288G>A (p.Val7430Ile)
c.20728G>A (p.Val6910Ile)
c.20221G>A (p.Val6741Ile)
c.15688G>A (p.Val5230Ile)
c.22426G>A (p.Val7476Ile)
c.22375G>A (p.Val7459Ile)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213690T>ACA452748463SYNE1c.22416A>T (p.Leu7472=)
c.22203A>T (p.Leu7401=)
c.21201A>T (p.Leu7067=)
c.1182A>T (p.Leu394=)
n.6108A>T
c.354A>T (p.Leu118=)
n.6000A>T
c.22452A>T (p.Leu7484=)
c.22440A>T (p.Leu7480=)
c.22431A>T (p.Leu7477=)
c.22401A>T (p.Leu7467=)
c.22437A>T (p.Leu7479=)
c.22380A>T (p.Leu7460=)
c.22311A>T (p.Leu7437=)
c.22299A>T (p.Leu7433=)
c.22296A>T (p.Leu7432=)
c.22293A>T (p.Leu7431=)
c.22449A>T (p.Leu7483=)
c.22287A>T (p.Leu7429=)
c.20727A>T (p.Leu6909=)
c.20220A>T (p.Leu6740=)
c.15687A>T (p.Leu5229=)
c.22425A>T (p.Leu7475=)
c.22374A>T (p.Leu7458=)
6g.152213690T>CCA452748465SYNE1c.22416A>G (p.Leu7472=)
c.22203A>G (p.Leu7401=)
c.21201A>G (p.Leu7067=)
c.1182A>G (p.Leu394=)
n.6108A>G
c.354A>G (p.Leu118=)
n.6000A>G
c.22452A>G (p.Leu7484=)
c.22440A>G (p.Leu7480=)
c.22431A>G (p.Leu7477=)
c.22401A>G (p.Leu7467=)
c.22437A>G (p.Leu7479=)
c.22380A>G (p.Leu7460=)
c.22311A>G (p.Leu7437=)
c.22299A>G (p.Leu7433=)
c.22296A>G (p.Leu7432=)
c.22293A>G (p.Leu7431=)
c.22449A>G (p.Leu7483=)
c.22287A>G (p.Leu7429=)
c.20727A>G (p.Leu6909=)
c.20220A>G (p.Leu6740=)
c.15687A>G (p.Leu5229=)
c.22425A>G (p.Leu7475=)
c.22374A>G (p.Leu7458=)
6g.152213690T>GCA452748464SYNE1c.22416A>C (p.Leu7472=)
c.22203A>C (p.Leu7401=)
c.21201A>C (p.Leu7067=)
c.1182A>C (p.Leu394=)
n.6108A>C
c.354A>C (p.Leu118=)
n.6000A>C
c.22452A>C (p.Leu7484=)
c.22440A>C (p.Leu7480=)
c.22431A>C (p.Leu7477=)
c.22401A>C (p.Leu7467=)
c.22437A>C (p.Leu7479=)
c.22380A>C (p.Leu7460=)
c.22311A>C (p.Leu7437=)
c.22299A>C (p.Leu7433=)
c.22296A>C (p.Leu7432=)
c.22293A>C (p.Leu7431=)
c.22449A>C (p.Leu7483=)
c.22287A>C (p.Leu7429=)
c.20727A>C (p.Leu6909=)
c.20220A>C (p.Leu6740=)
c.15687A>C (p.Leu5229=)
c.22425A>C (p.Leu7475=)
c.22374A>C (p.Leu7458=)
6g.152213691A>CCA366099313SYNE1c.22415T>G (p.Leu7472Arg)
c.22202T>G (p.Leu7401Arg)
c.21200T>G (p.Leu7067Arg)
c.1181T>G (p.Leu394Arg)
n.6107T>G
c.353T>G (p.Leu118Arg)
n.5999T>G
c.22451T>G (p.Leu7484Arg)
c.22439T>G (p.Leu7480Arg)
c.22430T>G (p.Leu7477Arg)
c.22400T>G (p.Leu7467Arg)
c.22436T>G (p.Leu7479Arg)
c.22379T>G (p.Leu7460Arg)
c.22310T>G (p.Leu7437Arg)
c.22298T>G (p.Leu7433Arg)
c.22295T>G (p.Leu7432Arg)
c.22292T>G (p.Leu7431Arg)
c.22448T>G (p.Leu7483Arg)
c.22286T>G (p.Leu7429Arg)
c.20726T>G (p.Leu6909Arg)
c.20219T>G (p.Leu6740Arg)
c.15686T>G (p.Leu5229Arg)
c.22424T>G (p.Leu7475Arg)
c.22373T>G (p.Leu7458Arg)
6g.152213691A>GCA366099314SYNE1c.22415T>C (p.Leu7472Pro)
c.22202T>C (p.Leu7401Pro)
c.21200T>C (p.Leu7067Pro)
c.1181T>C (p.Leu394Pro)
n.6107T>C
c.353T>C (p.Leu118Pro)
n.5999T>C
c.22451T>C (p.Leu7484Pro)
c.22439T>C (p.Leu7480Pro)
c.22430T>C (p.Leu7477Pro)
c.22400T>C (p.Leu7467Pro)
c.22436T>C (p.Leu7479Pro)
c.22379T>C (p.Leu7460Pro)
c.22310T>C (p.Leu7437Pro)
c.22298T>C (p.Leu7433Pro)
c.22295T>C (p.Leu7432Pro)
c.22292T>C (p.Leu7431Pro)
c.22448T>C (p.Leu7483Pro)
c.22286T>C (p.Leu7429Pro)
c.20726T>C (p.Leu6909Pro)
c.20219T>C (p.Leu6740Pro)
c.15686T>C (p.Leu5229Pro)
c.22424T>C (p.Leu7475Pro)
c.22373T>C (p.Leu7458Pro)
6g.152213691A>TCA366099315SYNE1c.22415T>A (p.Leu7472Gln)
c.22202T>A (p.Leu7401Gln)
c.21200T>A (p.Leu7067Gln)
c.1181T>A (p.Leu394Gln)
n.6107T>A
c.353T>A (p.Leu118Gln)
n.5999T>A
c.22451T>A (p.Leu7484Gln)
c.22439T>A (p.Leu7480Gln)
c.22430T>A (p.Leu7477Gln)
c.22400T>A (p.Leu7467Gln)
c.22436T>A (p.Leu7479Gln)
c.22379T>A (p.Leu7460Gln)
c.22310T>A (p.Leu7437Gln)
c.22298T>A (p.Leu7433Gln)
c.22295T>A (p.Leu7432Gln)
c.22292T>A (p.Leu7431Gln)
c.22448T>A (p.Leu7483Gln)
c.22286T>A (p.Leu7429Gln)
c.20726T>A (p.Leu6909Gln)
c.20219T>A (p.Leu6740Gln)
c.15686T>A (p.Leu5229Gln)
c.22424T>A (p.Leu7475Gln)
c.22373T>A (p.Leu7458Gln)
6g.152213692G>ACA150177073SYNE1c.22414C>T (p.Leu7472=)
c.22201C>T (p.Leu7401=)
c.21199C>T (p.Leu7067=)
c.1180C>T (p.Leu394=)
n.6106C>T
c.352C>T (p.Leu118=)
n.5998C>T
c.22450C>T (p.Leu7484=)
c.22438C>T (p.Leu7480=)
c.22429C>T (p.Leu7477=)
c.22399C>T (p.Leu7467=)
c.22435C>T (p.Leu7479=)
c.22378C>T (p.Leu7460=)
c.22309C>T (p.Leu7437=)
c.22297C>T (p.Leu7433=)
c.22294C>T (p.Leu7432=)
c.22291C>T (p.Leu7431=)
c.22447C>T (p.Leu7483=)
c.22285C>T (p.Leu7429=)
c.20725C>T (p.Leu6909=)
c.20218C>T (p.Leu6740=)
c.15685C>T (p.Leu5229=)
c.22423C>T (p.Leu7475=)
c.22372C>T (p.Leu7458=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152213692G>CCA366099316SYNE1c.22414C>G (p.Leu7472Val)
c.22201C>G (p.Leu7401Val)
c.21199C>G (p.Leu7067Val)
c.1180C>G (p.Leu394Val)
n.6106C>G
c.352C>G (p.Leu118Val)
n.5998C>G
c.22450C>G (p.Leu7484Val)
c.22438C>G (p.Leu7480Val)
c.22429C>G (p.Leu7477Val)
c.22399C>G (p.Leu7467Val)
c.22435C>G (p.Leu7479Val)
c.22378C>G (p.Leu7460Val)
c.22309C>G (p.Leu7437Val)
c.22297C>G (p.Leu7433Val)
c.22294C>G (p.Leu7432Val)
c.22291C>G (p.Leu7431Val)
c.22447C>G (p.Leu7483Val)
c.22285C>G (p.Leu7429Val)
c.20725C>G (p.Leu6909Val)
c.20218C>G (p.Leu6740Val)
c.15685C>G (p.Leu5229Val)
c.22423C>G (p.Leu7475Val)
c.22372C>G (p.Leu7458Val)
6g.152213692G=CA1673241116SYNE1c.22414C= (p.Leu7472=)
c.22201C= (p.Leu7401=)
c.21199C= (p.Leu7067=)
c.1180C= (p.Leu394=)
n.6106C=
c.352C= (p.Leu118=)
n.5998C=
c.22450C= (p.Leu7484=)
c.22438C= (p.Leu7480=)
c.22429C= (p.Leu7477=)
c.22399C= (p.Leu7467=)
c.22435C= (p.Leu7479=)
c.22378C= (p.Leu7460=)
c.22309C= (p.Leu7437=)
c.22297C= (p.Leu7433=)
c.22294C= (p.Leu7432=)
c.22291C= (p.Leu7431=)
c.22447C= (p.Leu7483=)
c.22285C= (p.Leu7429=)
c.20725C= (p.Leu6909=)
c.20218C= (p.Leu6740=)
c.15685C= (p.Leu5229=)
c.22423C= (p.Leu7475=)
c.22372C= (p.Leu7458=)
6g.152213692G>TCA366099317SYNE1c.22414C>A (p.Leu7472Ile)
c.22201C>A (p.Leu7401Ile)
c.21199C>A (p.Leu7067Ile)
c.1180C>A (p.Leu394Ile)
n.6106C>A
c.352C>A (p.Leu118Ile)
n.5998C>A
c.22450C>A (p.Leu7484Ile)
c.22438C>A (p.Leu7480Ile)
c.22429C>A (p.Leu7477Ile)
c.22399C>A (p.Leu7467Ile)
c.22435C>A (p.Leu7479Ile)
c.22378C>A (p.Leu7460Ile)
c.22309C>A (p.Leu7437Ile)
c.22297C>A (p.Leu7433Ile)
c.22294C>A (p.Leu7432Ile)
c.22291C>A (p.Leu7431Ile)
c.22447C>A (p.Leu7483Ile)
c.22285C>A (p.Leu7429Ile)
c.20725C>A (p.Leu6909Ile)
c.20218C>A (p.Leu6740Ile)
c.15685C>A (p.Leu5229Ile)
c.22423C>A (p.Leu7475Ile)
c.22372C>A (p.Leu7458Ile)
6g.152213693G>ACA452748467SYNE1c.22413C>T (p.Phe7471=)
c.22200C>T (p.Phe7400=)
c.21198C>T (p.Phe7066=)
c.1179C>T (p.Phe393=)
n.6105C>T
c.351C>T (p.Phe117=)
n.5997C>T
c.22449C>T (p.Phe7483=)
c.22437C>T (p.Phe7479=)
c.22428C>T (p.Phe7476=)
c.22398C>T (p.Phe7466=)
c.22434C>T (p.Phe7478=)
c.22377C>T (p.Phe7459=)
c.22308C>T (p.Phe7436=)
c.22296C>T (p.Phe7432=)
c.22293C>T (p.Phe7431=)
c.22290C>T (p.Phe7430=)
c.22446C>T (p.Phe7482=)
c.22284C>T (p.Phe7428=)
c.20724C>T (p.Phe6908=)
c.20217C>T (p.Phe6739=)
c.15684C>T (p.Phe5228=)
c.22422C>T (p.Phe7474=)
c.22371C>T (p.Phe7457=)
6g.152213693G>CCA366099319SYNE1c.22413C>G (p.Phe7471Leu)
c.22200C>G (p.Phe7400Leu)
c.21198C>G (p.Phe7066Leu)
c.1179C>G (p.Phe393Leu)
n.6105C>G
c.351C>G (p.Phe117Leu)
n.5997C>G
c.22449C>G (p.Phe7483Leu)
c.22437C>G (p.Phe7479Leu)
c.22428C>G (p.Phe7476Leu)
c.22398C>G (p.Phe7466Leu)
c.22434C>G (p.Phe7478Leu)
c.22377C>G (p.Phe7459Leu)
c.22308C>G (p.Phe7436Leu)
c.22296C>G (p.Phe7432Leu)
c.22293C>G (p.Phe7431Leu)
c.22290C>G (p.Phe7430Leu)
c.22446C>G (p.Phe7482Leu)
c.22284C>G (p.Phe7428Leu)
c.20724C>G (p.Phe6908Leu)
c.20217C>G (p.Phe6739Leu)
c.15684C>G (p.Phe5228Leu)
c.22422C>G (p.Phe7474Leu)
c.22371C>G (p.Phe7457Leu)
6g.152213693G=CA1673241117SYNE1c.22413C= (p.Phe7471=)
c.22200C= (p.Phe7400=)
c.21198C= (p.Phe7066=)
c.1179C= (p.Phe393=)
n.6105C=
c.351C= (p.Phe117=)
n.5997C=
c.22449C= (p.Phe7483=)
c.22437C= (p.Phe7479=)
c.22428C= (p.Phe7476=)
c.22398C= (p.Phe7466=)
c.22434C= (p.Phe7478=)
c.22377C= (p.Phe7459=)
c.22308C= (p.Phe7436=)
c.22296C= (p.Phe7432=)
c.22293C= (p.Phe7431=)
c.22290C= (p.Phe7430=)
c.22446C= (p.Phe7482=)
c.22284C= (p.Phe7428=)
c.20724C= (p.Phe6908=)
c.20217C= (p.Phe6739=)
c.15684C= (p.Phe5228=)
c.22422C= (p.Phe7474=)
c.22371C= (p.Phe7457=)
6g.152213693G>TCA366099321SYNE1c.22413C>A (p.Phe7471Leu)
c.22200C>A (p.Phe7400Leu)
c.21198C>A (p.Phe7066Leu)
c.1179C>A (p.Phe393Leu)
n.6105C>A
c.351C>A (p.Phe117Leu)
n.5997C>A
c.22449C>A (p.Phe7483Leu)
c.22437C>A (p.Phe7479Leu)
c.22428C>A (p.Phe7476Leu)
c.22398C>A (p.Phe7466Leu)
c.22434C>A (p.Phe7478Leu)
c.22377C>A (p.Phe7459Leu)
c.22308C>A (p.Phe7436Leu)
c.22296C>A (p.Phe7432Leu)
c.22293C>A (p.Phe7431Leu)
c.22290C>A (p.Phe7430Leu)
c.22446C>A (p.Phe7482Leu)
c.22284C>A (p.Phe7428Leu)
c.20724C>A (p.Phe6908Leu)
c.20217C>A (p.Phe6739Leu)
c.15684C>A (p.Phe5228Leu)
c.22422C>A (p.Phe7474Leu)
c.22371C>A (p.Phe7457Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152213694A=CA1673241118SYNE1c.22412T= (p.Phe7471=)
c.22199T= (p.Phe7400=)
c.21197T= (p.Phe7066=)
c.1178T= (p.Phe393=)
n.6104T=
c.350T= (p.Phe117=)
n.5996T=
c.22448T= (p.Phe7483=)
c.22436T= (p.Phe7479=)
c.22427T= (p.Phe7476=)
c.22397T= (p.Phe7466=)
c.22433T= (p.Phe7478=)
c.22376T= (p.Phe7459=)
c.22307T= (p.Phe7436=)
c.22295T= (p.Phe7432=)
c.22292T= (p.Phe7431=)
c.22289T= (p.Phe7430=)
c.22445T= (p.Phe7482=)
c.22283T= (p.Phe7428=)
c.20723T= (p.Phe6908=)
c.20216T= (p.Phe6739=)
c.15683T= (p.Phe5228=)
c.22421T= (p.Phe7474=)
c.22370T= (p.Phe7457=)
6g.152213694A>CCA366099323SYNE1c.22412T>G (p.Phe7471Cys)
c.22199T>G (p.Phe7400Cys)
c.21197T>G (p.Phe7066Cys)
c.1178T>G (p.Phe393Cys)
n.6104T>G
c.350T>G (p.Phe117Cys)
n.5996T>G
c.22448T>G (p.Phe7483Cys)
c.22436T>G (p.Phe7479Cys)
c.22427T>G (p.Phe7476Cys)
c.22397T>G (p.Phe7466Cys)
c.22433T>G (p.Phe7478Cys)
c.22376T>G (p.Phe7459Cys)
c.22307T>G (p.Phe7436Cys)
c.22295T>G (p.Phe7432Cys)
c.22292T>G (p.Phe7431Cys)
c.22289T>G (p.Phe7430Cys)
c.22445T>G (p.Phe7482Cys)
c.22283T>G (p.Phe7428Cys)
c.20723T>G (p.Phe6908Cys)
c.20216T>G (p.Phe6739Cys)
c.15683T>G (p.Phe5228Cys)
c.22421T>G (p.Phe7474Cys)
c.22370T>G (p.Phe7457Cys)
 dbSNP gnomAD v3 gnomAD v4
6g.152213694A>GCA366099325SYNE1c.22412T>C (p.Phe7471Ser)
c.22199T>C (p.Phe7400Ser)
c.21197T>C (p.Phe7066Ser)
c.1178T>C (p.Phe393Ser)
n.6104T>C
c.350T>C (p.Phe117Ser)
n.5996T>C
c.22448T>C (p.Phe7483Ser)
c.22436T>C (p.Phe7479Ser)
c.22427T>C (p.Phe7476Ser)
c.22397T>C (p.Phe7466Ser)
c.22433T>C (p.Phe7478Ser)
c.22376T>C (p.Phe7459Ser)
c.22307T>C (p.Phe7436Ser)
c.22295T>C (p.Phe7432Ser)
c.22292T>C (p.Phe7431Ser)
c.22289T>C (p.Phe7430Ser)
c.22445T>C (p.Phe7482Ser)
c.22283T>C (p.Phe7428Ser)
c.20723T>C (p.Phe6908Ser)
c.20216T>C (p.Phe6739Ser)
c.15683T>C (p.Phe5228Ser)
c.22421T>C (p.Phe7474Ser)
c.22370T>C (p.Phe7457Ser)
6g.152213694A>TCA366099326SYNE1c.22412T>A (p.Phe7471Tyr)
c.22199T>A (p.Phe7400Tyr)
c.21197T>A (p.Phe7066Tyr)
c.1178T>A (p.Phe393Tyr)
n.6104T>A
c.350T>A (p.Phe117Tyr)
n.5996T>A
c.22448T>A (p.Phe7483Tyr)
c.22436T>A (p.Phe7479Tyr)
c.22427T>A (p.Phe7476Tyr)
c.22397T>A (p.Phe7466Tyr)
c.22433T>A (p.Phe7478Tyr)
c.22376T>A (p.Phe7459Tyr)
c.22307T>A (p.Phe7436Tyr)
c.22295T>A (p.Phe7432Tyr)
c.22292T>A (p.Phe7431Tyr)
c.22289T>A (p.Phe7430Tyr)
c.22445T>A (p.Phe7482Tyr)
c.22283T>A (p.Phe7428Tyr)
c.20723T>A (p.Phe6908Tyr)
c.20216T>A (p.Phe6739Tyr)
c.15683T>A (p.Phe5228Tyr)
c.22421T>A (p.Phe7474Tyr)
c.22370T>A (p.Phe7457Tyr)
6g.152213695A>CCA366099332SYNE1c.22411T>G (p.Phe7471Val)
c.22198T>G (p.Phe7400Val)
c.21196T>G (p.Phe7066Val)
c.1177T>G (p.Phe393Val)
n.6103T>G
c.349T>G (p.Phe117Val)
n.5995T>G
c.22447T>G (p.Phe7483Val)
c.22435T>G (p.Phe7479Val)
c.22426T>G (p.Phe7476Val)
c.22396T>G (p.Phe7466Val)
c.22432T>G (p.Phe7478Val)
c.22375T>G (p.Phe7459Val)
c.22306T>G (p.Phe7436Val)
c.22294T>G (p.Phe7432Val)
c.22291T>G (p.Phe7431Val)
c.22288T>G (p.Phe7430Val)
c.22444T>G (p.Phe7482Val)
c.22282T>G (p.Phe7428Val)
c.20722T>G (p.Phe6908Val)
c.20215T>G (p.Phe6739Val)
c.15682T>G (p.Phe5228Val)
c.22420T>G (p.Phe7474Val)
c.22369T>G (p.Phe7457Val)
6g.152213695A>GCA366099328SYNE1c.22411T>C (p.Phe7471Leu)
c.22198T>C (p.Phe7400Leu)
c.21196T>C (p.Phe7066Leu)
c.1177T>C (p.Phe393Leu)
n.6103T>C
c.349T>C (p.Phe117Leu)
n.5995T>C
c.22447T>C (p.Phe7483Leu)
c.22435T>C (p.Phe7479Leu)
c.22426T>C (p.Phe7476Leu)
c.22396T>C (p.Phe7466Leu)
c.22432T>C (p.Phe7478Leu)
c.22375T>C (p.Phe7459Leu)
c.22306T>C (p.Phe7436Leu)
c.22294T>C (p.Phe7432Leu)
c.22291T>C (p.Phe7431Leu)
c.22288T>C (p.Phe7430Leu)
c.22444T>C (p.Phe7482Leu)
c.22282T>C (p.Phe7428Leu)
c.20722T>C (p.Phe6908Leu)
c.20215T>C (p.Phe6739Leu)
c.15682T>C (p.Phe5228Leu)
c.22420T>C (p.Phe7474Leu)
c.22369T>C (p.Phe7457Leu)
6g.152213695A>TCA366099330SYNE1c.22411T>A (p.Phe7471Ile)
c.22198T>A (p.Phe7400Ile)
c.21196T>A (p.Phe7066Ile)
c.1177T>A (p.Phe393Ile)
n.6103T>A
c.349T>A (p.Phe117Ile)
n.5995T>A
c.22447T>A (p.Phe7483Ile)
c.22435T>A (p.Phe7479Ile)
c.22426T>A (p.Phe7476Ile)
c.22396T>A (p.Phe7466Ile)
c.22432T>A (p.Phe7478Ile)
c.22375T>A (p.Phe7459Ile)
c.22306T>A (p.Phe7436Ile)
c.22294T>A (p.Phe7432Ile)
c.22291T>A (p.Phe7431Ile)
c.22288T>A (p.Phe7430Ile)
c.22444T>A (p.Phe7482Ile)
c.22282T>A (p.Phe7428Ile)
c.20722T>A (p.Phe6908Ile)
c.20215T>A (p.Phe6739Ile)
c.15682T>A (p.Phe5228Ile)
c.22420T>A (p.Phe7474Ile)
c.22369T>A (p.Phe7457Ile)
6g.152213696T>ACA366099334SYNE1c.22410A>T (p.Glu7470Asp)
c.22197A>T (p.Glu7399Asp)
c.21195A>T (p.Glu7065Asp)
c.1176A>T (p.Glu392Asp)
n.6102A>T
c.348A>T (p.Glu116Asp)
n.5994A>T
c.22446A>T (p.Glu7482Asp)
c.22434A>T (p.Glu7478Asp)
c.22425A>T (p.Glu7475Asp)
c.22395A>T (p.Glu7465Asp)
c.22431A>T (p.Glu7477Asp)
c.22374A>T (p.Glu7458Asp)
c.22305A>T (p.Glu7435Asp)
c.22293A>T (p.Glu7431Asp)
c.22290A>T (p.Glu7430Asp)
c.22287A>T (p.Glu7429Asp)
c.22443A>T (p.Glu7481Asp)
c.22281A>T (p.Glu7427Asp)
c.20721A>T (p.Glu6907Asp)
c.20214A>T (p.Glu6738Asp)
c.15681A>T (p.Glu5227Asp)
c.22419A>T (p.Glu7473Asp)
c.22368A>T (p.Glu7456Asp)
 gnomAD v4
6g.152213696T>CCA452748469SYNE1c.22410A>G (p.Glu7470=)
c.22197A>G (p.Glu7399=)
c.21195A>G (p.Glu7065=)
c.1176A>G (p.Glu392=)
n.6102A>G
c.348A>G (p.Glu116=)
n.5994A>G
c.22446A>G (p.Glu7482=)
c.22434A>G (p.Glu7478=)
c.22425A>G (p.Glu7475=)
c.22395A>G (p.Glu7465=)
c.22431A>G (p.Glu7477=)
c.22374A>G (p.Glu7458=)
c.22305A>G (p.Glu7435=)
c.22293A>G (p.Glu7431=)
c.22290A>G (p.Glu7430=)
c.22287A>G (p.Glu7429=)
c.22443A>G (p.Glu7481=)
c.22281A>G (p.Glu7427=)
c.20721A>G (p.Glu6907=)
c.20214A>G (p.Glu6738=)
c.15681A>G (p.Glu5227=)
c.22419A>G (p.Glu7473=)
c.22368A>G (p.Glu7456=)
6g.152213696T>GCA4053885SYNE1c.22410A>C (p.Glu7470Asp)
c.22197A>C (p.Glu7399Asp)
c.21195A>C (p.Glu7065Asp)
c.1176A>C (p.Glu392Asp)
n.6102A>C
c.348A>C (p.Glu116Asp)
n.5994A>C
c.22446A>C (p.Glu7482Asp)
c.22434A>C (p.Glu7478Asp)
c.22425A>C (p.Glu7475Asp)
c.22395A>C (p.Glu7465Asp)
c.22431A>C (p.Glu7477Asp)
c.22374A>C (p.Glu7458Asp)
c.22305A>C (p.Glu7435Asp)
c.22293A>C (p.Glu7431Asp)
c.22290A>C (p.Glu7430Asp)
c.22287A>C (p.Glu7429Asp)
c.22443A>C (p.Glu7481Asp)
c.22281A>C (p.Glu7427Asp)
c.20721A>C (p.Glu6907Asp)
c.20214A>C (p.Glu6738Asp)
c.15681A>C (p.Glu5227Asp)
c.22419A>C (p.Glu7473Asp)
c.22368A>C (p.Glu7456Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213696T=CA1673241119SYNE1c.22410A= (p.Glu7470=)
c.22197A= (p.Glu7399=)
c.21195A= (p.Glu7065=)
c.1176A= (p.Glu392=)
n.6102A=
c.348A= (p.Glu116=)
n.5994A=
c.22446A= (p.Glu7482=)
c.22434A= (p.Glu7478=)
c.22425A= (p.Glu7475=)
c.22395A= (p.Glu7465=)
c.22431A= (p.Glu7477=)
c.22374A= (p.Glu7458=)
c.22305A= (p.Glu7435=)
c.22293A= (p.Glu7431=)
c.22290A= (p.Glu7430=)
c.22287A= (p.Glu7429=)
c.22443A= (p.Glu7481=)
c.22281A= (p.Glu7427=)
c.20721A= (p.Glu6907=)
c.20214A= (p.Glu6738=)
c.15681A= (p.Glu5227=)
c.22419A= (p.Glu7473=)
c.22368A= (p.Glu7456=)
6g.152213697T>ACA366099336SYNE1c.22409A>T (p.Glu7470Val)
c.22196A>T (p.Glu7399Val)
c.21194A>T (p.Glu7065Val)
c.1175A>T (p.Glu392Val)
n.6101A>T
c.347A>T (p.Glu116Val)
n.5993A>T
c.22445A>T (p.Glu7482Val)
c.22433A>T (p.Glu7478Val)
c.22424A>T (p.Glu7475Val)
c.22394A>T (p.Glu7465Val)
c.22430A>T (p.Glu7477Val)
c.22373A>T (p.Glu7458Val)
c.22304A>T (p.Glu7435Val)
c.22292A>T (p.Glu7431Val)
c.22289A>T (p.Glu7430Val)
c.22286A>T (p.Glu7429Val)
c.22442A>T (p.Glu7481Val)
c.22280A>T (p.Glu7427Val)
c.20720A>T (p.Glu6907Val)
c.20213A>T (p.Glu6738Val)
c.15680A>T (p.Glu5227Val)
c.22418A>T (p.Glu7473Val)
c.22367A>T (p.Glu7456Val)
6g.152213697T>CCA150177084SYNE1c.22409A>G (p.Glu7470Gly)
c.22196A>G (p.Glu7399Gly)
c.21194A>G (p.Glu7065Gly)
c.1175A>G (p.Glu392Gly)
n.6101A>G
c.347A>G (p.Glu116Gly)
n.5993A>G
c.22445A>G (p.Glu7482Gly)
c.22433A>G (p.Glu7478Gly)
c.22424A>G (p.Glu7475Gly)
c.22394A>G (p.Glu7465Gly)
c.22430A>G (p.Glu7477Gly)
c.22373A>G (p.Glu7458Gly)
c.22304A>G (p.Glu7435Gly)
c.22292A>G (p.Glu7431Gly)
c.22289A>G (p.Glu7430Gly)
c.22286A>G (p.Glu7429Gly)
c.22442A>G (p.Glu7481Gly)
c.22280A>G (p.Glu7427Gly)
c.20720A>G (p.Glu6907Gly)
c.20213A>G (p.Glu6738Gly)
c.15680A>G (p.Glu5227Gly)
c.22418A>G (p.Glu7473Gly)
c.22367A>G (p.Glu7456Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.152213697T>GCA366099337SYNE1c.22409A>C (p.Glu7470Ala)
c.22196A>C (p.Glu7399Ala)
c.21194A>C (p.Glu7065Ala)
c.1175A>C (p.Glu392Ala)
n.6101A>C
c.347A>C (p.Glu116Ala)
n.5993A>C
c.22445A>C (p.Glu7482Ala)
c.22433A>C (p.Glu7478Ala)
c.22424A>C (p.Glu7475Ala)
c.22394A>C (p.Glu7465Ala)
c.22430A>C (p.Glu7477Ala)
c.22373A>C (p.Glu7458Ala)
c.22304A>C (p.Glu7435Ala)
c.22292A>C (p.Glu7431Ala)
c.22289A>C (p.Glu7430Ala)
c.22286A>C (p.Glu7429Ala)
c.22442A>C (p.Glu7481Ala)
c.22280A>C (p.Glu7427Ala)
c.20720A>C (p.Glu6907Ala)
c.20213A>C (p.Glu6738Ala)
c.15680A>C (p.Glu5227Ala)
c.22418A>C (p.Glu7473Ala)
c.22367A>C (p.Glu7456Ala)
6g.152213697T=CA1673241120SYNE1c.22409A= (p.Glu7470=)
c.22196A= (p.Glu7399=)
c.21194A= (p.Glu7065=)
c.1175A= (p.Glu392=)
n.6101A=
c.347A= (p.Glu116=)
n.5993A=
c.22445A= (p.Glu7482=)
c.22433A= (p.Glu7478=)
c.22424A= (p.Glu7475=)
c.22394A= (p.Glu7465=)
c.22430A= (p.Glu7477=)
c.22373A= (p.Glu7458=)
c.22304A= (p.Glu7435=)
c.22292A= (p.Glu7431=)
c.22289A= (p.Glu7430=)
c.22286A= (p.Glu7429=)
c.22442A= (p.Glu7481=)
c.22280A= (p.Glu7427=)
c.20720A= (p.Glu6907=)
c.20213A= (p.Glu6738=)
c.15680A= (p.Glu5227=)
c.22418A= (p.Glu7473=)
c.22367A= (p.Glu7456=)
6g.152213698C>ACA366099339SYNE1c.22408G>T (p.Glu7470Ter)
c.22195G>T (p.Glu7399Ter)
c.21193G>T (p.Glu7065Ter)
c.1174G>T (p.Glu392Ter)
n.6100G>T
c.346G>T (p.Glu116Ter)
n.5992G>T
c.22444G>T (p.Glu7482Ter)
c.22432G>T (p.Glu7478Ter)
c.22423G>T (p.Glu7475Ter)
c.22393G>T (p.Glu7465Ter)
c.22429G>T (p.Glu7477Ter)
c.22372G>T (p.Glu7458Ter)
c.22303G>T (p.Glu7435Ter)
c.22291G>T (p.Glu7431Ter)
c.22288G>T (p.Glu7430Ter)
c.22285G>T (p.Glu7429Ter)
c.22441G>T (p.Glu7481Ter)
c.22279G>T (p.Glu7427Ter)
c.20719G>T (p.Glu6907Ter)
c.20212G>T (p.Glu6738Ter)
c.15679G>T (p.Glu5227Ter)
c.22417G>T (p.Glu7473Ter)
c.22366G>T (p.Glu7456Ter)
 ClinVar dbSNP
6g.152213698C=CA1673241121SYNE1c.22408G= (p.Glu7470=)
c.22195G= (p.Glu7399=)
c.21193G= (p.Glu7065=)
c.1174G= (p.Glu392=)
n.6100G=
c.346G= (p.Glu116=)
n.5992G=
c.22444G= (p.Glu7482=)
c.22432G= (p.Glu7478=)
c.22423G= (p.Glu7475=)
c.22393G= (p.Glu7465=)
c.22429G= (p.Glu7477=)
c.22372G= (p.Glu7458=)
c.22303G= (p.Glu7435=)
c.22291G= (p.Glu7431=)
c.22288G= (p.Glu7430=)
c.22285G= (p.Glu7429=)
c.22441G= (p.Glu7481=)
c.22279G= (p.Glu7427=)
c.20719G= (p.Glu6907=)
c.20212G= (p.Glu6738=)
c.15679G= (p.Glu5227=)
c.22417G= (p.Glu7473=)
c.22366G= (p.Glu7456=)
6g.152213698C>GCA366099340SYNE1c.22408G>C (p.Glu7470Gln)
c.22195G>C (p.Glu7399Gln)
c.21193G>C (p.Glu7065Gln)
c.1174G>C (p.Glu392Gln)
n.6100G>C
c.346G>C (p.Glu116Gln)
n.5992G>C
c.22444G>C (p.Glu7482Gln)
c.22432G>C (p.Glu7478Gln)
c.22423G>C (p.Glu7475Gln)
c.22393G>C (p.Glu7465Gln)
c.22429G>C (p.Glu7477Gln)
c.22372G>C (p.Glu7458Gln)
c.22303G>C (p.Glu7435Gln)
c.22291G>C (p.Glu7431Gln)
c.22288G>C (p.Glu7430Gln)
c.22285G>C (p.Glu7429Gln)
c.22441G>C (p.Glu7481Gln)
c.22279G>C (p.Glu7427Gln)
c.20719G>C (p.Glu6907Gln)
c.20212G>C (p.Glu6738Gln)
c.15679G>C (p.Glu5227Gln)
c.22417G>C (p.Glu7473Gln)
c.22366G>C (p.Glu7456Gln)
6g.152213698C>TCA366099343SYNE1c.22408G>A (p.Glu7470Lys)
c.22195G>A (p.Glu7399Lys)
c.21193G>A (p.Glu7065Lys)
c.1174G>A (p.Glu392Lys)
n.6100G>A
c.346G>A (p.Glu116Lys)
n.5992G>A
c.22444G>A (p.Glu7482Lys)
c.22432G>A (p.Glu7478Lys)
c.22423G>A (p.Glu7475Lys)
c.22393G>A (p.Glu7465Lys)
c.22429G>A (p.Glu7477Lys)
c.22372G>A (p.Glu7458Lys)
c.22303G>A (p.Glu7435Lys)
c.22291G>A (p.Glu7431Lys)
c.22288G>A (p.Glu7430Lys)
c.22285G>A (p.Glu7429Lys)
c.22441G>A (p.Glu7481Lys)
c.22279G>A (p.Glu7427Lys)
c.20719G>A (p.Glu6907Lys)
c.20212G>A (p.Glu6738Lys)
c.15679G>A (p.Glu5227Lys)
c.22417G>A (p.Glu7473Lys)
c.22366G>A (p.Glu7456Lys)
 COSMIC COSMIC COSMIC
6g.152213699C>ACA366099344SYNE1c.22407G>T (p.Met7469Ile)
c.22194G>T (p.Met7398Ile)
c.21192G>T (p.Met7064Ile)
c.1173G>T (p.Met391Ile)
n.6099G>T
c.345G>T (p.Met115Ile)
n.5991G>T
c.22443G>T (p.Met7481Ile)
c.22431G>T (p.Met7477Ile)
c.22422G>T (p.Met7474Ile)
c.22392G>T (p.Met7464Ile)
c.22428G>T (p.Met7476Ile)
c.22371G>T (p.Met7457Ile)
c.22302G>T (p.Met7434Ile)
c.22290G>T (p.Met7430Ile)
c.22287G>T (p.Met7429Ile)
c.22284G>T (p.Met7428Ile)
c.22440G>T (p.Met7480Ile)
c.22278G>T (p.Met7426Ile)
c.20718G>T (p.Met6906Ile)
c.20211G>T (p.Met6737Ile)
c.15678G>T (p.Met5226Ile)
c.22416G>T (p.Met7472Ile)
c.22365G>T (p.Met7455Ile)
6g.152213699C=CA1673241122SYNE1c.22407G= (p.Met7469=)
c.22194G= (p.Met7398=)
c.21192G= (p.Met7064=)
c.1173G= (p.Met391=)
n.6099G=
c.345G= (p.Met115=)
n.5991G=
c.22443G= (p.Met7481=)
c.22431G= (p.Met7477=)
c.22422G= (p.Met7474=)
c.22392G= (p.Met7464=)
c.22428G= (p.Met7476=)
c.22371G= (p.Met7457=)
c.22302G= (p.Met7434=)
c.22290G= (p.Met7430=)
c.22287G= (p.Met7429=)
c.22284G= (p.Met7428=)
c.22440G= (p.Met7480=)
c.22278G= (p.Met7426=)
c.20718G= (p.Met6906=)
c.20211G= (p.Met6737=)
c.15678G= (p.Met5226=)
c.22416G= (p.Met7472=)
c.22365G= (p.Met7455=)
6g.152213699C>GCA366099346SYNE1c.22407G>C (p.Met7469Ile)
c.22194G>C (p.Met7398Ile)
c.21192G>C (p.Met7064Ile)
c.1173G>C (p.Met391Ile)
n.6099G>C
c.345G>C (p.Met115Ile)
n.5991G>C
c.22443G>C (p.Met7481Ile)
c.22431G>C (p.Met7477Ile)
c.22422G>C (p.Met7474Ile)
c.22392G>C (p.Met7464Ile)
c.22428G>C (p.Met7476Ile)
c.22371G>C (p.Met7457Ile)
c.22302G>C (p.Met7434Ile)
c.22290G>C (p.Met7430Ile)
c.22287G>C (p.Met7429Ile)
c.22284G>C (p.Met7428Ile)
c.22440G>C (p.Met7480Ile)
c.22278G>C (p.Met7426Ile)
c.20718G>C (p.Met6906Ile)
c.20211G>C (p.Met6737Ile)
c.15678G>C (p.Met5226Ile)
c.22416G>C (p.Met7472Ile)
c.22365G>C (p.Met7455Ile)
6g.152213699C>TCA366099348SYNE1c.22407G>A (p.Met7469Ile)
c.22194G>A (p.Met7398Ile)
c.21192G>A (p.Met7064Ile)
c.1173G>A (p.Met391Ile)
n.6099G>A
c.345G>A (p.Met115Ile)
n.5991G>A
c.22443G>A (p.Met7481Ile)
c.22431G>A (p.Met7477Ile)
c.22422G>A (p.Met7474Ile)
c.22392G>A (p.Met7464Ile)
c.22428G>A (p.Met7476Ile)
c.22371G>A (p.Met7457Ile)
c.22302G>A (p.Met7434Ile)
c.22290G>A (p.Met7430Ile)
c.22287G>A (p.Met7429Ile)
c.22284G>A (p.Met7428Ile)
c.22440G>A (p.Met7480Ile)
c.22278G>A (p.Met7426Ile)
c.20718G>A (p.Met6906Ile)
c.20211G>A (p.Met6737Ile)
c.15678G>A (p.Met5226Ile)
c.22416G>A (p.Met7472Ile)
c.22365G>A (p.Met7455Ile)
 dbSNP gnomAD v2
6g.152213700A>CCA366099350SYNE1c.22406T>G (p.Met7469Arg)
c.22193T>G (p.Met7398Arg)
c.21191T>G (p.Met7064Arg)
c.1172T>G (p.Met391Arg)
n.6098T>G
c.344T>G (p.Met115Arg)
n.5990T>G
c.22442T>G (p.Met7481Arg)
c.22430T>G (p.Met7477Arg)
c.22421T>G (p.Met7474Arg)
c.22391T>G (p.Met7464Arg)
c.22427T>G (p.Met7476Arg)
c.22370T>G (p.Met7457Arg)
c.22301T>G (p.Met7434Arg)
c.22289T>G (p.Met7430Arg)
c.22286T>G (p.Met7429Arg)
c.22283T>G (p.Met7428Arg)
c.22439T>G (p.Met7480Arg)
c.22277T>G (p.Met7426Arg)
c.20717T>G (p.Met6906Arg)
c.20210T>G (p.Met6737Arg)
c.15677T>G (p.Met5226Arg)
c.22415T>G (p.Met7472Arg)
c.22364T>G (p.Met7455Arg)
6g.152213700A>GCA366099354SYNE1c.22406T>C (p.Met7469Thr)
c.22193T>C (p.Met7398Thr)
c.21191T>C (p.Met7064Thr)
c.1172T>C (p.Met391Thr)
n.6098T>C
c.344T>C (p.Met115Thr)
n.5990T>C
c.22442T>C (p.Met7481Thr)
c.22430T>C (p.Met7477Thr)
c.22421T>C (p.Met7474Thr)
c.22391T>C (p.Met7464Thr)
c.22427T>C (p.Met7476Thr)
c.22370T>C (p.Met7457Thr)
c.22301T>C (p.Met7434Thr)
c.22289T>C (p.Met7430Thr)
c.22286T>C (p.Met7429Thr)
c.22283T>C (p.Met7428Thr)
c.22439T>C (p.Met7480Thr)
c.22277T>C (p.Met7426Thr)
c.20717T>C (p.Met6906Thr)
c.20210T>C (p.Met6737Thr)
c.15677T>C (p.Met5226Thr)
c.22415T>C (p.Met7472Thr)
c.22364T>C (p.Met7455Thr)
6g.152213700A>TCA366099352SYNE1c.22406T>A (p.Met7469Lys)
c.22193T>A (p.Met7398Lys)
c.21191T>A (p.Met7064Lys)
c.1172T>A (p.Met391Lys)
n.6098T>A
c.344T>A (p.Met115Lys)
n.5990T>A
c.22442T>A (p.Met7481Lys)
c.22430T>A (p.Met7477Lys)
c.22421T>A (p.Met7474Lys)
c.22391T>A (p.Met7464Lys)
c.22427T>A (p.Met7476Lys)
c.22370T>A (p.Met7457Lys)
c.22301T>A (p.Met7434Lys)
c.22289T>A (p.Met7430Lys)
c.22286T>A (p.Met7429Lys)
c.22283T>A (p.Met7428Lys)
c.22439T>A (p.Met7480Lys)
c.22277T>A (p.Met7426Lys)
c.20717T>A (p.Met6906Lys)
c.20210T>A (p.Met6737Lys)
c.15677T>A (p.Met5226Lys)
c.22415T>A (p.Met7472Lys)
c.22364T>A (p.Met7455Lys)
6g.152213701T>ACA366099356SYNE1c.22405A>T (p.Met7469Leu)
c.22192A>T (p.Met7398Leu)
c.21190A>T (p.Met7064Leu)
c.1171A>T (p.Met391Leu)
n.6097A>T
c.343A>T (p.Met115Leu)
n.5989A>T
c.22441A>T (p.Met7481Leu)
c.22429A>T (p.Met7477Leu)
c.22420A>T (p.Met7474Leu)
c.22390A>T (p.Met7464Leu)
c.22426A>T (p.Met7476Leu)
c.22369A>T (p.Met7457Leu)
c.22300A>T (p.Met7434Leu)
c.22288A>T (p.Met7430Leu)
c.22285A>T (p.Met7429Leu)
c.22282A>T (p.Met7428Leu)
c.22438A>T (p.Met7480Leu)
c.22276A>T (p.Met7426Leu)
c.20716A>T (p.Met6906Leu)
c.20209A>T (p.Met6737Leu)
c.15676A>T (p.Met5226Leu)
c.22414A>T (p.Met7472Leu)
c.22363A>T (p.Met7455Leu)
 gnomAD v4
6g.152213701T>CCA4053886SYNE1c.22405A>G (p.Met7469Val)
c.22192A>G (p.Met7398Val)
c.21190A>G (p.Met7064Val)
c.1171A>G (p.Met391Val)
n.6097A>G
c.343A>G (p.Met115Val)
n.5989A>G
c.22441A>G (p.Met7481Val)
c.22429A>G (p.Met7477Val)
c.22420A>G (p.Met7474Val)
c.22390A>G (p.Met7464Val)
c.22426A>G (p.Met7476Val)
c.22369A>G (p.Met7457Val)
c.22300A>G (p.Met7434Val)
c.22288A>G (p.Met7430Val)
c.22285A>G (p.Met7429Val)
c.22282A>G (p.Met7428Val)
c.22438A>G (p.Met7480Val)
c.22276A>G (p.Met7426Val)
c.20716A>G (p.Met6906Val)
c.20209A>G (p.Met6737Val)
c.15676A>G (p.Met5226Val)
c.22414A>G (p.Met7472Val)
c.22363A>G (p.Met7455Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213701T>GCA366099358SYNE1c.22405A>C (p.Met7469Leu)
c.22192A>C (p.Met7398Leu)
c.21190A>C (p.Met7064Leu)
c.1171A>C (p.Met391Leu)
n.6097A>C
c.343A>C (p.Met115Leu)
n.5989A>C
c.22441A>C (p.Met7481Leu)
c.22429A>C (p.Met7477Leu)
c.22420A>C (p.Met7474Leu)
c.22390A>C (p.Met7464Leu)
c.22426A>C (p.Met7476Leu)
c.22369A>C (p.Met7457Leu)
c.22300A>C (p.Met7434Leu)
c.22288A>C (p.Met7430Leu)
c.22285A>C (p.Met7429Leu)
c.22282A>C (p.Met7428Leu)
c.22438A>C (p.Met7480Leu)
c.22276A>C (p.Met7426Leu)
c.20716A>C (p.Met6906Leu)
c.20209A>C (p.Met6737Leu)
c.15676A>C (p.Met5226Leu)
c.22414A>C (p.Met7472Leu)
c.22363A>C (p.Met7455Leu)
6g.152213701T=CA1673241123SYNE1c.22405A= (p.Met7469=)
c.22192A= (p.Met7398=)
c.21190A= (p.Met7064=)
c.1171A= (p.Met391=)
n.6097A=
c.343A= (p.Met115=)
n.5989A=
c.22441A= (p.Met7481=)
c.22429A= (p.Met7477=)
c.22420A= (p.Met7474=)
c.22390A= (p.Met7464=)
c.22426A= (p.Met7476=)
c.22369A= (p.Met7457=)
c.22300A= (p.Met7434=)
c.22288A= (p.Met7430=)
c.22285A= (p.Met7429=)
c.22282A= (p.Met7428=)
c.22438A= (p.Met7480=)
c.22276A= (p.Met7426=)
c.20716A= (p.Met6906=)
c.20209A= (p.Met6737=)
c.15676A= (p.Met5226=)
c.22414A= (p.Met7472=)
c.22363A= (p.Met7455=)
6g.152213702C>ACA366099360SYNE1c.22404G>T (p.Trp7468Cys)
c.22191G>T (p.Trp7397Cys)
c.21189G>T (p.Trp7063Cys)
c.1170G>T (p.Trp390Cys)
n.6096G>T
c.342G>T (p.Trp114Cys)
n.5988G>T
c.22440G>T (p.Trp7480Cys)
c.22428G>T (p.Trp7476Cys)
c.22419G>T (p.Trp7473Cys)
c.22389G>T (p.Trp7463Cys)
c.22425G>T (p.Trp7475Cys)
c.22368G>T (p.Trp7456Cys)
c.22299G>T (p.Trp7433Cys)
c.22287G>T (p.Trp7429Cys)
c.22284G>T (p.Trp7428Cys)
c.22281G>T (p.Trp7427Cys)
c.22437G>T (p.Trp7479Cys)
c.22275G>T (p.Trp7425Cys)
c.20715G>T (p.Trp6905Cys)
c.20208G>T (p.Trp6736Cys)
c.15675G>T (p.Trp5225Cys)
c.22413G>T (p.Trp7471Cys)
c.22362G>T (p.Trp7454Cys)
6g.152213702C>GCA366099362SYNE1c.22404G>C (p.Trp7468Cys)
c.22191G>C (p.Trp7397Cys)
c.21189G>C (p.Trp7063Cys)
c.1170G>C (p.Trp390Cys)
n.6096G>C
c.342G>C (p.Trp114Cys)
n.5988G>C
c.22440G>C (p.Trp7480Cys)
c.22428G>C (p.Trp7476Cys)
c.22419G>C (p.Trp7473Cys)
c.22389G>C (p.Trp7463Cys)
c.22425G>C (p.Trp7475Cys)
c.22368G>C (p.Trp7456Cys)
c.22299G>C (p.Trp7433Cys)
c.22287G>C (p.Trp7429Cys)
c.22284G>C (p.Trp7428Cys)
c.22281G>C (p.Trp7427Cys)
c.22437G>C (p.Trp7479Cys)
c.22275G>C (p.Trp7425Cys)
c.20715G>C (p.Trp6905Cys)
c.20208G>C (p.Trp6736Cys)
c.15675G>C (p.Trp5225Cys)
c.22413G>C (p.Trp7471Cys)
c.22362G>C (p.Trp7454Cys)
6g.152213702C>TCA366099364SYNE1c.22404G>A (p.Trp7468Ter)
c.22191G>A (p.Trp7397Ter)
c.21189G>A (p.Trp7063Ter)
c.1170G>A (p.Trp390Ter)
n.6096G>A
c.342G>A (p.Trp114Ter)
n.5988G>A
c.22440G>A (p.Trp7480Ter)
c.22428G>A (p.Trp7476Ter)
c.22419G>A (p.Trp7473Ter)
c.22389G>A (p.Trp7463Ter)
c.22425G>A (p.Trp7475Ter)
c.22368G>A (p.Trp7456Ter)
c.22299G>A (p.Trp7433Ter)
c.22287G>A (p.Trp7429Ter)
c.22284G>A (p.Trp7428Ter)
c.22281G>A (p.Trp7427Ter)
c.22437G>A (p.Trp7479Ter)
c.22275G>A (p.Trp7425Ter)
c.20715G>A (p.Trp6905Ter)
c.20208G>A (p.Trp6736Ter)
c.15675G>A (p.Trp5225Ter)
c.22413G>A (p.Trp7471Ter)
c.22362G>A (p.Trp7454Ter)
 dbSNP
6g.152213703C>ACA366099366SYNE1c.22403G>T (p.Trp7468Leu)
c.22190G>T (p.Trp7397Leu)
c.21188G>T (p.Trp7063Leu)
c.1169G>T (p.Trp390Leu)
n.6095G>T
c.341G>T (p.Trp114Leu)
n.5987G>T
c.22439G>T (p.Trp7480Leu)
c.22427G>T (p.Trp7476Leu)
c.22418G>T (p.Trp7473Leu)
c.22388G>T (p.Trp7463Leu)
c.22424G>T (p.Trp7475Leu)
c.22367G>T (p.Trp7456Leu)
c.22298G>T (p.Trp7433Leu)
c.22286G>T (p.Trp7429Leu)
c.22283G>T (p.Trp7428Leu)
c.22280G>T (p.Trp7427Leu)
c.22436G>T (p.Trp7479Leu)
c.22274G>T (p.Trp7425Leu)
c.20714G>T (p.Trp6905Leu)
c.20207G>T (p.Trp6736Leu)
c.15674G>T (p.Trp5225Leu)
c.22412G>T (p.Trp7471Leu)
c.22361G>T (p.Trp7454Leu)
6g.152213703C>GCA366099368SYNE1c.22403G>C (p.Trp7468Ser)
c.22190G>C (p.Trp7397Ser)
c.21188G>C (p.Trp7063Ser)
c.1169G>C (p.Trp390Ser)
n.6095G>C
c.341G>C (p.Trp114Ser)
n.5987G>C
c.22439G>C (p.Trp7480Ser)
c.22427G>C (p.Trp7476Ser)
c.22418G>C (p.Trp7473Ser)
c.22388G>C (p.Trp7463Ser)
c.22424G>C (p.Trp7475Ser)
c.22367G>C (p.Trp7456Ser)
c.22298G>C (p.Trp7433Ser)
c.22286G>C (p.Trp7429Ser)
c.22283G>C (p.Trp7428Ser)
c.22280G>C (p.Trp7427Ser)
c.22436G>C (p.Trp7479Ser)
c.22274G>C (p.Trp7425Ser)
c.20714G>C (p.Trp6905Ser)
c.20207G>C (p.Trp6736Ser)
c.15674G>C (p.Trp5225Ser)
c.22412G>C (p.Trp7471Ser)
c.22361G>C (p.Trp7454Ser)
6g.152213703C>TCA366099370SYNE1c.22403G>A (p.Trp7468Ter)
c.22190G>A (p.Trp7397Ter)
c.21188G>A (p.Trp7063Ter)
c.1169G>A (p.Trp390Ter)
n.6095G>A
c.341G>A (p.Trp114Ter)
n.5987G>A
c.22439G>A (p.Trp7480Ter)
c.22427G>A (p.Trp7476Ter)
c.22418G>A (p.Trp7473Ter)
c.22388G>A (p.Trp7463Ter)
c.22424G>A (p.Trp7475Ter)
c.22367G>A (p.Trp7456Ter)
c.22298G>A (p.Trp7433Ter)
c.22286G>A (p.Trp7429Ter)
c.22283G>A (p.Trp7428Ter)
c.22280G>A (p.Trp7427Ter)
c.22436G>A (p.Trp7479Ter)
c.22274G>A (p.Trp7425Ter)
c.20714G>A (p.Trp6905Ter)
c.20207G>A (p.Trp6736Ter)
c.15674G>A (p.Trp5225Ter)
c.22412G>A (p.Trp7471Ter)
c.22361G>A (p.Trp7454Ter)
6g.152213704A=CA1673241124SYNE1c.22402T= (p.Trp7468=)
c.22189T= (p.Trp7397=)
c.21187T= (p.Trp7063=)
c.1168T= (p.Trp390=)
n.6094T=
c.340T= (p.Trp114=)
n.5986T=
c.22438T= (p.Trp7480=)
c.22426T= (p.Trp7476=)
c.22417T= (p.Trp7473=)
c.22387T= (p.Trp7463=)
c.22423T= (p.Trp7475=)
c.22366T= (p.Trp7456=)
c.22297T= (p.Trp7433=)
c.22285T= (p.Trp7429=)
c.22282T= (p.Trp7428=)
c.22279T= (p.Trp7427=)
c.22435T= (p.Trp7479=)
c.22273T= (p.Trp7425=)
c.20713T= (p.Trp6905=)
c.20206T= (p.Trp6736=)
c.15673T= (p.Trp5225=)
c.22411T= (p.Trp7471=)
c.22360T= (p.Trp7454=)
6g.152213704A>CCA366099372SYNE1c.22402T>G (p.Trp7468Gly)
c.22189T>G (p.Trp7397Gly)
c.21187T>G (p.Trp7063Gly)
c.1168T>G (p.Trp390Gly)
n.6094T>G
c.340T>G (p.Trp114Gly)
n.5986T>G
c.22438T>G (p.Trp7480Gly)
c.22426T>G (p.Trp7476Gly)
c.22417T>G (p.Trp7473Gly)
c.22387T>G (p.Trp7463Gly)
c.22423T>G (p.Trp7475Gly)
c.22366T>G (p.Trp7456Gly)
c.22297T>G (p.Trp7433Gly)
c.22285T>G (p.Trp7429Gly)
c.22282T>G (p.Trp7428Gly)
c.22279T>G (p.Trp7427Gly)
c.22435T>G (p.Trp7479Gly)
c.22273T>G (p.Trp7425Gly)
c.20713T>G (p.Trp6905Gly)
c.20206T>G (p.Trp6736Gly)
c.15673T>G (p.Trp5225Gly)
c.22411T>G (p.Trp7471Gly)
c.22360T>G (p.Trp7454Gly)
6g.152213704A>GCA366099373SYNE1c.22402T>C (p.Trp7468Arg)
c.22189T>C (p.Trp7397Arg)
c.21187T>C (p.Trp7063Arg)
c.1168T>C (p.Trp390Arg)
n.6094T>C
c.340T>C (p.Trp114Arg)
n.5986T>C
c.22438T>C (p.Trp7480Arg)
c.22426T>C (p.Trp7476Arg)
c.22417T>C (p.Trp7473Arg)
c.22387T>C (p.Trp7463Arg)
c.22423T>C (p.Trp7475Arg)
c.22366T>C (p.Trp7456Arg)
c.22297T>C (p.Trp7433Arg)
c.22285T>C (p.Trp7429Arg)
c.22282T>C (p.Trp7428Arg)
c.22279T>C (p.Trp7427Arg)
c.22435T>C (p.Trp7479Arg)
c.22273T>C (p.Trp7425Arg)
c.20713T>C (p.Trp6905Arg)
c.20206T>C (p.Trp6736Arg)
c.15673T>C (p.Trp5225Arg)
c.22411T>C (p.Trp7471Arg)
c.22360T>C (p.Trp7454Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.152213704A>TCA366099375SYNE1c.22402T>A (p.Trp7468Arg)
c.22189T>A (p.Trp7397Arg)
c.21187T>A (p.Trp7063Arg)
c.1168T>A (p.Trp390Arg)
n.6094T>A
c.340T>A (p.Trp114Arg)
n.5986T>A
c.22438T>A (p.Trp7480Arg)
c.22426T>A (p.Trp7476Arg)
c.22417T>A (p.Trp7473Arg)
c.22387T>A (p.Trp7463Arg)
c.22423T>A (p.Trp7475Arg)
c.22366T>A (p.Trp7456Arg)
c.22297T>A (p.Trp7433Arg)
c.22285T>A (p.Trp7429Arg)
c.22282T>A (p.Trp7428Arg)
c.22279T>A (p.Trp7427Arg)
c.22435T>A (p.Trp7479Arg)
c.22273T>A (p.Trp7425Arg)
c.20713T>A (p.Trp6905Arg)
c.20206T>A (p.Trp6736Arg)
c.15673T>A (p.Trp5225Arg)
c.22411T>A (p.Trp7471Arg)
c.22360T>A (p.Trp7454Arg)
6g.152213705T>ACA452748475SYNE1c.22401A>T (p.Thr7467=)
c.22188A>T (p.Thr7396=)
c.21186A>T (p.Thr7062=)
c.1167A>T (p.Thr389=)
n.6093A>T
c.339A>T (p.Thr113=)
n.5985A>T
c.22437A>T (p.Thr7479=)
c.22425A>T (p.Thr7475=)
c.22416A>T (p.Thr7472=)
c.22386A>T (p.Thr7462=)
c.22422A>T (p.Thr7474=)
c.22365A>T (p.Thr7455=)
c.22296A>T (p.Thr7432=)
c.22284A>T (p.Thr7428=)
c.22281A>T (p.Thr7427=)
c.22278A>T (p.Thr7426=)
c.22434A>T (p.Thr7478=)
c.22272A>T (p.Thr7424=)
c.20712A>T (p.Thr6904=)
c.20205A>T (p.Thr6735=)
c.15672A>T (p.Thr5224=)
c.22410A>T (p.Thr7470=)
c.22359A>T (p.Thr7453=)
6g.152213705T>CCA4053887SYNE1c.22401A>G (p.Thr7467=)
c.22188A>G (p.Thr7396=)
c.21186A>G (p.Thr7062=)
c.1167A>G (p.Thr389=)
n.6093A>G
c.339A>G (p.Thr113=)
n.5985A>G
c.22437A>G (p.Thr7479=)
c.22425A>G (p.Thr7475=)
c.22416A>G (p.Thr7472=)
c.22386A>G (p.Thr7462=)
c.22422A>G (p.Thr7474=)
c.22365A>G (p.Thr7455=)
c.22296A>G (p.Thr7432=)
c.22284A>G (p.Thr7428=)
c.22281A>G (p.Thr7427=)
c.22278A>G (p.Thr7426=)
c.22434A>G (p.Thr7478=)
c.22272A>G (p.Thr7424=)
c.20712A>G (p.Thr6904=)
c.20205A>G (p.Thr6735=)
c.15672A>G (p.Thr5224=)
c.22410A>G (p.Thr7470=)
c.22359A>G (p.Thr7453=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152213705T>GCA452748476SYNE1c.22401A>C (p.Thr7467=)
c.22188A>C (p.Thr7396=)
c.21186A>C (p.Thr7062=)
c.1167A>C (p.Thr389=)
n.6093A>C
c.339A>C (p.Thr113=)
n.5985A>C
c.22437A>C (p.Thr7479=)
c.22425A>C (p.Thr7475=)
c.22416A>C (p.Thr7472=)
c.22386A>C (p.Thr7462=)
c.22422A>C (p.Thr7474=)
c.22365A>C (p.Thr7455=)
c.22296A>C (p.Thr7432=)
c.22284A>C (p.Thr7428=)
c.22281A>C (p.Thr7427=)
c.22278A>C (p.Thr7426=)
c.22434A>C (p.Thr7478=)
c.22272A>C (p.Thr7424=)
c.20712A>C (p.Thr6904=)
c.20205A>C (p.Thr6735=)
c.15672A>C (p.Thr5224=)
c.22410A>C (p.Thr7470=)
c.22359A>C (p.Thr7453=)
6g.152213705T=CA1673241125SYNE1c.22401A= (p.Thr7467=)
c.22188A= (p.Thr7396=)
c.21186A= (p.Thr7062=)
c.1167A= (p.Thr389=)
n.6093A=
c.339A= (p.Thr113=)
n.5985A=
c.22437A= (p.Thr7479=)
c.22425A= (p.Thr7475=)
c.22416A= (p.Thr7472=)
c.22386A= (p.Thr7462=)
c.22422A= (p.Thr7474=)
c.22365A= (p.Thr7455=)
c.22296A= (p.Thr7432=)
c.22284A= (p.Thr7428=)
c.22281A= (p.Thr7427=)
c.22278A= (p.Thr7426=)
c.22434A= (p.Thr7478=)
c.22272A= (p.Thr7424=)
c.20712A= (p.Thr6904=)
c.20205A= (p.Thr6735=)
c.15672A= (p.Thr5224=)
c.22410A= (p.Thr7470=)
c.22359A= (p.Thr7453=)
6g.152213706G>ACA366099381SYNE1c.22400C>T (p.Thr7467Ile)
c.22187C>T (p.Thr7396Ile)
c.21185C>T (p.Thr7062Ile)
c.1166C>T (p.Thr389Ile)
n.6092C>T
c.338C>T (p.Thr113Ile)
n.5984C>T
c.22436C>T (p.Thr7479Ile)
c.22424C>T (p.Thr7475Ile)
c.22415C>T (p.Thr7472Ile)
c.22385C>T (p.Thr7462Ile)
c.22421C>T (p.Thr7474Ile)
c.22364C>T (p.Thr7455Ile)
c.22295C>T (p.Thr7432Ile)
c.22283C>T (p.Thr7428Ile)
c.22280C>T (p.Thr7427Ile)
c.22277C>T (p.Thr7426Ile)
c.22433C>T (p.Thr7478Ile)
c.22271C>T (p.Thr7424Ile)
c.20711C>T (p.Thr6904Ile)
c.20204C>T (p.Thr6735Ile)
c.15671C>T (p.Thr5224Ile)
c.22409C>T (p.Thr7470Ile)
c.22358C>T (p.Thr7453Ile)
 gnomAD v4
6g.152213706G>CCA366099379SYNE1c.22400C>G (p.Thr7467Arg)
c.22187C>G (p.Thr7396Arg)
c.21185C>G (p.Thr7062Arg)
c.1166C>G (p.Thr389Arg)
n.6092C>G
c.338C>G (p.Thr113Arg)
n.5984C>G
c.22436C>G (p.Thr7479Arg)
c.22424C>G (p.Thr7475Arg)
c.22415C>G (p.Thr7472Arg)
c.22385C>G (p.Thr7462Arg)
c.22421C>G (p.Thr7474Arg)
c.22364C>G (p.Thr7455Arg)
c.22295C>G (p.Thr7432Arg)
c.22283C>G (p.Thr7428Arg)
c.22280C>G (p.Thr7427Arg)
c.22277C>G (p.Thr7426Arg)
c.22433C>G (p.Thr7478Arg)
c.22271C>G (p.Thr7424Arg)
c.20711C>G (p.Thr6904Arg)
c.20204C>G (p.Thr6735Arg)
c.15671C>G (p.Thr5224Arg)
c.22409C>G (p.Thr7470Arg)
c.22358C>G (p.Thr7453Arg)
6g.152213706G>TCA366099378SYNE1c.22400C>A (p.Thr7467Lys)
c.22187C>A (p.Thr7396Lys)
c.21185C>A (p.Thr7062Lys)
c.1166C>A (p.Thr389Lys)
n.6092C>A
c.338C>A (p.Thr113Lys)
n.5984C>A
c.22436C>A (p.Thr7479Lys)
c.22424C>A (p.Thr7475Lys)
c.22415C>A (p.Thr7472Lys)
c.22385C>A (p.Thr7462Lys)
c.22421C>A (p.Thr7474Lys)
c.22364C>A (p.Thr7455Lys)
c.22295C>A (p.Thr7432Lys)
c.22283C>A (p.Thr7428Lys)
c.22280C>A (p.Thr7427Lys)
c.22277C>A (p.Thr7426Lys)
c.22433C>A (p.Thr7478Lys)
c.22271C>A (p.Thr7424Lys)
c.20711C>A (p.Thr6904Lys)
c.20204C>A (p.Thr6735Lys)
c.15671C>A (p.Thr5224Lys)
c.22409C>A (p.Thr7470Lys)
c.22358C>A (p.Thr7453Lys)
6g.152213707T>ACA366099383SYNE1c.22399A>T (p.Thr7467Ser)
c.22186A>T (p.Thr7396Ser)
c.21184A>T (p.Thr7062Ser)
c.1165A>T (p.Thr389Ser)
n.6091A>T
c.337A>T (p.Thr113Ser)
n.5983A>T
c.22435A>T (p.Thr7479Ser)
c.22423A>T (p.Thr7475Ser)
c.22414A>T (p.Thr7472Ser)
c.22384A>T (p.Thr7462Ser)
c.22420A>T (p.Thr7474Ser)
c.22363A>T (p.Thr7455Ser)
c.22294A>T (p.Thr7432Ser)
c.22282A>T (p.Thr7428Ser)
c.22279A>T (p.Thr7427Ser)
c.22276A>T (p.Thr7426Ser)
c.22432A>T (p.Thr7478Ser)
c.22270A>T (p.Thr7424Ser)
c.20710A>T (p.Thr6904Ser)
c.20203A>T (p.Thr6735Ser)
c.15670A>T (p.Thr5224Ser)
c.22408A>T (p.Thr7470Ser)
c.22357A>T (p.Thr7453Ser)
 ClinVar dbSNP
6g.152213707T>CCA366099385SYNE1c.22399A>G (p.Thr7467Ala)
c.22186A>G (p.Thr7396Ala)
c.21184A>G (p.Thr7062Ala)
c.1165A>G (p.Thr389Ala)
n.6091A>G
c.337A>G (p.Thr113Ala)
n.5983A>G
c.22435A>G (p.Thr7479Ala)
c.22423A>G (p.Thr7475Ala)
c.22414A>G (p.Thr7472Ala)
c.22384A>G (p.Thr7462Ala)
c.22420A>G (p.Thr7474Ala)
c.22363A>G (p.Thr7455Ala)
c.22294A>G (p.Thr7432Ala)
c.22282A>G (p.Thr7428Ala)
c.22279A>G (p.Thr7427Ala)
c.22276A>G (p.Thr7426Ala)
c.22432A>G (p.Thr7478Ala)
c.22270A>G (p.Thr7424Ala)
c.20710A>G (p.Thr6904Ala)
c.20203A>G (p.Thr6735Ala)
c.15670A>G (p.Thr5224Ala)
c.22408A>G (p.Thr7470Ala)
c.22357A>G (p.Thr7453Ala)
6g.152213707T>GCA366099387SYNE1c.22399A>C (p.Thr7467Pro)
c.22186A>C (p.Thr7396Pro)
c.21184A>C (p.Thr7062Pro)
c.1165A>C (p.Thr389Pro)
n.6091A>C
c.337A>C (p.Thr113Pro)
n.5983A>C
c.22435A>C (p.Thr7479Pro)
c.22423A>C (p.Thr7475Pro)
c.22414A>C (p.Thr7472Pro)
c.22384A>C (p.Thr7462Pro)
c.22420A>C (p.Thr7474Pro)
c.22363A>C (p.Thr7455Pro)
c.22294A>C (p.Thr7432Pro)
c.22282A>C (p.Thr7428Pro)
c.22279A>C (p.Thr7427Pro)
c.22276A>C (p.Thr7426Pro)
c.22432A>C (p.Thr7478Pro)
c.22270A>C (p.Thr7424Pro)
c.20710A>C (p.Thr6904Pro)
c.20203A>C (p.Thr6735Pro)
c.15670A>C (p.Thr5224Pro)
c.22408A>C (p.Thr7470Pro)
c.22357A>C (p.Thr7453Pro)
6g.152213708T>ACA366099389SYNE1c.22398A>T (p.Glu7466Asp)
c.22185A>T (p.Glu7395Asp)
c.21183A>T (p.Glu7061Asp)
c.1164A>T (p.Glu388Asp)
n.6090A>T
c.336A>T (p.Glu112Asp)
n.5982A>T
c.22434A>T (p.Glu7478Asp)
c.22422A>T (p.Glu7474Asp)
c.22413A>T (p.Glu7471Asp)
c.22383A>T (p.Glu7461Asp)
c.22419A>T (p.Glu7473Asp)
c.22362A>T (p.Glu7454Asp)
c.22293A>T (p.Glu7431Asp)
c.22281A>T (p.Glu7427Asp)
c.22278A>T (p.Glu7426Asp)
c.22275A>T (p.Glu7425Asp)
c.22431A>T (p.Glu7477Asp)
c.22269A>T (p.Glu7423Asp)
c.20709A>T (p.Glu6903Asp)
c.20202A>T (p.Glu6734Asp)
c.15669A>T (p.Glu5223Asp)
c.22407A>T (p.Glu7469Asp)
c.22356A>T (p.Glu7452Asp)
6g.152213708T>CCA452748477SYNE1c.22398A>G (p.Glu7466=)
c.22185A>G (p.Glu7395=)
c.21183A>G (p.Glu7061=)
c.1164A>G (p.Glu388=)
n.6090A>G
c.336A>G (p.Glu112=)
n.5982A>G
c.22434A>G (p.Glu7478=)
c.22422A>G (p.Glu7474=)
c.22413A>G (p.Glu7471=)
c.22383A>G (p.Glu7461=)
c.22419A>G (p.Glu7473=)
c.22362A>G (p.Glu7454=)
c.22293A>G (p.Glu7431=)
c.22281A>G (p.Glu7427=)
c.22278A>G (p.Glu7426=)
c.22275A>G (p.Glu7425=)
c.22431A>G (p.Glu7477=)
c.22269A>G (p.Glu7423=)
c.20709A>G (p.Glu6903=)
c.20202A>G (p.Glu6734=)
c.15669A>G (p.Glu5223=)
c.22407A>G (p.Glu7469=)
c.22356A>G (p.Glu7452=)
6g.152213708T>GCA366099391SYNE1c.22398A>C (p.Glu7466Asp)
c.22185A>C (p.Glu7395Asp)
c.21183A>C (p.Glu7061Asp)
c.1164A>C (p.Glu388Asp)
n.6090A>C
c.336A>C (p.Glu112Asp)
n.5982A>C
c.22434A>C (p.Glu7478Asp)
c.22422A>C (p.Glu7474Asp)
c.22413A>C (p.Glu7471Asp)
c.22383A>C (p.Glu7461Asp)
c.22419A>C (p.Glu7473Asp)
c.22362A>C (p.Glu7454Asp)
c.22293A>C (p.Glu7431Asp)
c.22281A>C (p.Glu7427Asp)
c.22278A>C (p.Glu7426Asp)
c.22275A>C (p.Glu7425Asp)
c.22431A>C (p.Glu7477Asp)
c.22269A>C (p.Glu7423Asp)
c.20709A>C (p.Glu6903Asp)
c.20202A>C (p.Glu6734Asp)
c.15669A>C (p.Glu5223Asp)
c.22407A>C (p.Glu7469Asp)
c.22356A>C (p.Glu7452Asp)
6g.152213709T>ACA366099393SYNE1c.22397A>T (p.Glu7466Val)
c.22184A>T (p.Glu7395Val)
c.21182A>T (p.Glu7061Val)
c.1163A>T (p.Glu388Val)
n.6089A>T
c.335A>T (p.Glu112Val)
n.5981A>T
c.22433A>T (p.Glu7478Val)
c.22421A>T (p.Glu7474Val)
c.22412A>T (p.Glu7471Val)
c.22382A>T (p.Glu7461Val)
c.22418A>T (p.Glu7473Val)
c.22361A>T (p.Glu7454Val)
c.22292A>T (p.Glu7431Val)
c.22280A>T (p.Glu7427Val)
c.22277A>T (p.Glu7426Val)
c.22274A>T (p.Glu7425Val)
c.22430A>T (p.Glu7477Val)
c.22268A>T (p.Glu7423Val)
c.20708A>T (p.Glu6903Val)
c.20201A>T (p.Glu6734Val)
c.15668A>T (p.Glu5223Val)
c.22406A>T (p.Glu7469Val)
c.22355A>T (p.Glu7452Val)
6g.152213709T>CCA366099395SYNE1c.22397A>G (p.Glu7466Gly)
c.22184A>G (p.Glu7395Gly)
c.21182A>G (p.Glu7061Gly)
c.1163A>G (p.Glu388Gly)
n.6089A>G
c.335A>G (p.Glu112Gly)
n.5981A>G
c.22433A>G (p.Glu7478Gly)
c.22421A>G (p.Glu7474Gly)
c.22412A>G (p.Glu7471Gly)
c.22382A>G (p.Glu7461Gly)
c.22418A>G (p.Glu7473Gly)
c.22361A>G (p.Glu7454Gly)
c.22292A>G (p.Glu7431Gly)
c.22280A>G (p.Glu7427Gly)
c.22277A>G (p.Glu7426Gly)
c.22274A>G (p.Glu7425Gly)
c.22430A>G (p.Glu7477Gly)
c.22268A>G (p.Glu7423Gly)
c.20708A>G (p.Glu6903Gly)
c.20201A>G (p.Glu6734Gly)
c.15668A>G (p.Glu5223Gly)
c.22406A>G (p.Glu7469Gly)
c.22355A>G (p.Glu7452Gly)
6g.152213709T>GCA366099397SYNE1c.22397A>C (p.Glu7466Ala)
c.22184A>C (p.Glu7395Ala)
c.21182A>C (p.Glu7061Ala)
c.1163A>C (p.Glu388Ala)
n.6089A>C
c.335A>C (p.Glu112Ala)
n.5981A>C
c.22433A>C (p.Glu7478Ala)
c.22421A>C (p.Glu7474Ala)
c.22412A>C (p.Glu7471Ala)
c.22382A>C (p.Glu7461Ala)
c.22418A>C (p.Glu7473Ala)
c.22361A>C (p.Glu7454Ala)
c.22292A>C (p.Glu7431Ala)
c.22280A>C (p.Glu7427Ala)
c.22277A>C (p.Glu7426Ala)
c.22274A>C (p.Glu7425Ala)
c.22430A>C (p.Glu7477Ala)
c.22268A>C (p.Glu7423Ala)
c.20708A>C (p.Glu6903Ala)
c.20201A>C (p.Glu6734Ala)
c.15668A>C (p.Glu5223Ala)
c.22406A>C (p.Glu7469Ala)
c.22355A>C (p.Glu7452Ala)
6g.152213710C>ACA366099400SYNE1c.22396G>T (p.Glu7466Ter)
c.22183G>T (p.Glu7395Ter)
c.21181G>T (p.Glu7061Ter)
c.1162G>T (p.Glu388Ter)
n.6088G>T
c.334G>T (p.Glu112Ter)
n.5980G>T
c.22432G>T (p.Glu7478Ter)
c.22420G>T (p.Glu7474Ter)
c.22411G>T (p.Glu7471Ter)
c.22381G>T (p.Glu7461Ter)
c.22417G>T (p.Glu7473Ter)
c.22360G>T (p.Glu7454Ter)
c.22291G>T (p.Glu7431Ter)
c.22279G>T (p.Glu7427Ter)
c.22276G>T (p.Glu7426Ter)
c.22273G>T (p.Glu7425Ter)
c.22429G>T (p.Glu7477Ter)
c.22267G>T (p.Glu7423Ter)
c.20707G>T (p.Glu6903Ter)
c.20200G>T (p.Glu6734Ter)
c.15667G>T (p.Glu5223Ter)
c.22405G>T (p.Glu7469Ter)
c.22354G>T (p.Glu7452Ter)
6g.152213710C>GCA366099401SYNE1c.22396G>C (p.Glu7466Gln)
c.22183G>C (p.Glu7395Gln)
c.21181G>C (p.Glu7061Gln)
c.1162G>C (p.Glu388Gln)
n.6088G>C
c.334G>C (p.Glu112Gln)
n.5980G>C
c.22432G>C (p.Glu7478Gln)
c.22420G>C (p.Glu7474Gln)
c.22411G>C (p.Glu7471Gln)
c.22381G>C (p.Glu7461Gln)
c.22417G>C (p.Glu7473Gln)
c.22360G>C (p.Glu7454Gln)
c.22291G>C (p.Glu7431Gln)
c.22279G>C (p.Glu7427Gln)
c.22276G>C (p.Glu7426Gln)
c.22273G>C (p.Glu7425Gln)
c.22429G>C (p.Glu7477Gln)
c.22267G>C (p.Glu7423Gln)
c.20707G>C (p.Glu6903Gln)
c.20200G>C (p.Glu6734Gln)
c.15667G>C (p.Glu5223Gln)
c.22405G>C (p.Glu7469Gln)
c.22354G>C (p.Glu7452Gln)
6g.152213710C>TCA366099403SYNE1c.22396G>A (p.Glu7466Lys)
c.22183G>A (p.Glu7395Lys)
c.21181G>A (p.Glu7061Lys)
c.1162G>A (p.Glu388Lys)
n.6088G>A
c.334G>A (p.Glu112Lys)
n.5980G>A
c.22432G>A (p.Glu7478Lys)
c.22420G>A (p.Glu7474Lys)
c.22411G>A (p.Glu7471Lys)
c.22381G>A (p.Glu7461Lys)
c.22417G>A (p.Glu7473Lys)
c.22360G>A (p.Glu7454Lys)
c.22291G>A (p.Glu7431Lys)
c.22279G>A (p.Glu7427Lys)
c.22276G>A (p.Glu7426Lys)
c.22273G>A (p.Glu7425Lys)
c.22429G>A (p.Glu7477Lys)
c.22267G>A (p.Glu7423Lys)
c.20707G>A (p.Glu6903Lys)
c.20200G>A (p.Glu6734Lys)
c.15667G>A (p.Glu5223Lys)
c.22405G>A (p.Glu7469Lys)
c.22354G>A (p.Glu7452Lys)
6g.152213711A>CCA366099405SYNE1c.22395T>G (p.Cys7465Trp)
c.22182T>G (p.Cys7394Trp)
c.21180T>G (p.Cys7060Trp)
c.1161T>G (p.Cys387Trp)
n.6087T>G
c.333T>G (p.Cys111Trp)
n.5979T>G
c.22431T>G (p.Cys7477Trp)
c.22419T>G (p.Cys7473Trp)
c.22410T>G (p.Cys7470Trp)
c.22380T>G (p.Cys7460Trp)
c.22416T>G (p.Cys7472Trp)
c.22359T>G (p.Cys7453Trp)
c.22290T>G (p.Cys7430Trp)
c.22278T>G (p.Cys7426Trp)
c.22275T>G (p.Cys7425Trp)
c.22272T>G (p.Cys7424Trp)
c.22428T>G (p.Cys7476Trp)
c.22266T>G (p.Cys7422Trp)
c.20706T>G (p.Cys6902Trp)
c.20199T>G (p.Cys6733Trp)
c.15666T>G (p.Cys5222Trp)
c.22404T>G (p.Cys7468Trp)
c.22353T>G (p.Cys7451Trp)
6g.152213711A>GCA452748478SYNE1c.22395T>C (p.Cys7465=)
c.22182T>C (p.Cys7394=)
c.21180T>C (p.Cys7060=)
c.1161T>C (p.Cys387=)
n.6087T>C
c.333T>C (p.Cys111=)
n.5979T>C
c.22431T>C (p.Cys7477=)
c.22419T>C (p.Cys7473=)
c.22410T>C (p.Cys7470=)
c.22380T>C (p.Cys7460=)
c.22416T>C (p.Cys7472=)
c.22359T>C (p.Cys7453=)
c.22290T>C (p.Cys7430=)
c.22278T>C (p.Cys7426=)
c.22275T>C (p.Cys7425=)
c.22272T>C (p.Cys7424=)
c.22428T>C (p.Cys7476=)
c.22266T>C (p.Cys7422=)
c.20706T>C (p.Cys6902=)
c.20199T>C (p.Cys6733=)
c.15666T>C (p.Cys5222=)
c.22404T>C (p.Cys7468=)
c.22353T>C (p.Cys7451=)
6g.152213711A>TCA366099407SYNE1c.22395T>A (p.Cys7465Ter)
c.22182T>A (p.Cys7394Ter)
c.21180T>A (p.Cys7060Ter)
c.1161T>A (p.Cys387Ter)
n.6087T>A
c.333T>A (p.Cys111Ter)
n.5979T>A
c.22431T>A (p.Cys7477Ter)
c.22419T>A (p.Cys7473Ter)
c.22410T>A (p.Cys7470Ter)
c.22380T>A (p.Cys7460Ter)
c.22416T>A (p.Cys7472Ter)
c.22359T>A (p.Cys7453Ter)
c.22290T>A (p.Cys7430Ter)
c.22278T>A (p.Cys7426Ter)
c.22275T>A (p.Cys7425Ter)
c.22272T>A (p.Cys7424Ter)
c.22428T>A (p.Cys7476Ter)
c.22266T>A (p.Cys7422Ter)
c.20706T>A (p.Cys6902Ter)
c.20199T>A (p.Cys6733Ter)
c.15666T>A (p.Cys5222Ter)
c.22404T>A (p.Cys7468Ter)
c.22353T>A (p.Cys7451Ter)
6g.152213712C>ACA366099410SYNE1c.22394G>T (p.Cys7465Phe)
c.22181G>T (p.Cys7394Phe)
c.21179G>T (p.Cys7060Phe)
c.1160G>T (p.Cys387Phe)
n.6086G>T
c.332G>T (p.Cys111Phe)
n.5978G>T
c.22430G>T (p.Cys7477Phe)
c.22418G>T (p.Cys7473Phe)
c.22409G>T (p.Cys7470Phe)
c.22379G>T (p.Cys7460Phe)
c.22415G>T (p.Cys7472Phe)
c.22358G>T (p.Cys7453Phe)
c.22289G>T (p.Cys7430Phe)
c.22277G>T (p.Cys7426Phe)
c.22274G>T (p.Cys7425Phe)
c.22271G>T (p.Cys7424Phe)
c.22427G>T (p.Cys7476Phe)
c.22265G>T (p.Cys7422Phe)
c.20705G>T (p.Cys6902Phe)
c.20198G>T (p.Cys6733Phe)
c.15665G>T (p.Cys5222Phe)
c.22403G>T (p.Cys7468Phe)
c.22352G>T (p.Cys7451Phe)
6g.152213712C>GCA366099412SYNE1c.22394G>C (p.Cys7465Ser)
c.22181G>C (p.Cys7394Ser)
c.21179G>C (p.Cys7060Ser)
c.1160G>C (p.Cys387Ser)
n.6086G>C
c.332G>C (p.Cys111Ser)
n.5978G>C
c.22430G>C (p.Cys7477Ser)
c.22418G>C (p.Cys7473Ser)
c.22409G>C (p.Cys7470Ser)
c.22379G>C (p.Cys7460Ser)
c.22415G>C (p.Cys7472Ser)
c.22358G>C (p.Cys7453Ser)
c.22289G>C (p.Cys7430Ser)
c.22277G>C (p.Cys7426Ser)
c.22274G>C (p.Cys7425Ser)
c.22271G>C (p.Cys7424Ser)
c.22427G>C (p.Cys7476Ser)
c.22265G>C (p.Cys7422Ser)
c.20705G>C (p.Cys6902Ser)
c.20198G>C (p.Cys6733Ser)
c.15665G>C (p.Cys5222Ser)
c.22403G>C (p.Cys7468Ser)
c.22352G>C (p.Cys7451Ser)
6g.152213712C>TCA366099409SYNE1c.22394G>A (p.Cys7465Tyr)
c.22181G>A (p.Cys7394Tyr)
c.21179G>A (p.Cys7060Tyr)
c.1160G>A (p.Cys387Tyr)
n.6086G>A
c.332G>A (p.Cys111Tyr)
n.5978G>A
c.22430G>A (p.Cys7477Tyr)
c.22418G>A (p.Cys7473Tyr)
c.22409G>A (p.Cys7470Tyr)
c.22379G>A (p.Cys7460Tyr)
c.22415G>A (p.Cys7472Tyr)
c.22358G>A (p.Cys7453Tyr)
c.22289G>A (p.Cys7430Tyr)
c.22277G>A (p.Cys7426Tyr)
c.22274G>A (p.Cys7425Tyr)
c.22271G>A (p.Cys7424Tyr)
c.22427G>A (p.Cys7476Tyr)
c.22265G>A (p.Cys7422Tyr)
c.20705G>A (p.Cys6902Tyr)
c.20198G>A (p.Cys6733Tyr)
c.15665G>A (p.Cys5222Tyr)
c.22403G>A (p.Cys7468Tyr)
c.22352G>A (p.Cys7451Tyr)
6g.152213713A>CCA366099415SYNE1c.22393T>G (p.Cys7465Gly)
c.22180T>G (p.Cys7394Gly)
c.21178T>G (p.Cys7060Gly)
c.1159T>G (p.Cys387Gly)
n.6085T>G
c.331T>G (p.Cys111Gly)
n.5977T>G
c.22429T>G (p.Cys7477Gly)
c.22417T>G (p.Cys7473Gly)
c.22408T>G (p.Cys7470Gly)
c.22378T>G (p.Cys7460Gly)
c.22414T>G (p.Cys7472Gly)
c.22357T>G (p.Cys7453Gly)
c.22288T>G (p.Cys7430Gly)
c.22276T>G (p.Cys7426Gly)
c.22273T>G (p.Cys7425Gly)
c.22270T>G (p.Cys7424Gly)
c.22426T>G (p.Cys7476Gly)
c.22264T>G (p.Cys7422Gly)
c.20704T>G (p.Cys6902Gly)
c.20197T>G (p.Cys6733Gly)
c.15664T>G (p.Cys5222Gly)
c.22402T>G (p.Cys7468Gly)
c.22351T>G (p.Cys7451Gly)
6g.152213713A>GCA366099417SYNE1c.22393T>C (p.Cys7465Arg)
c.22180T>C (p.Cys7394Arg)
c.21178T>C (p.Cys7060Arg)
c.1159T>C (p.Cys387Arg)
n.6085T>C
c.331T>C (p.Cys111Arg)
n.5977T>C
c.22429T>C (p.Cys7477Arg)
c.22417T>C (p.Cys7473Arg)
c.22408T>C (p.Cys7470Arg)
c.22378T>C (p.Cys7460Arg)
c.22414T>C (p.Cys7472Arg)
c.22357T>C (p.Cys7453Arg)
c.22288T>C (p.Cys7430Arg)
c.22276T>C (p.Cys7426Arg)
c.22273T>C (p.Cys7425Arg)
c.22270T>C (p.Cys7424Arg)
c.22426T>C (p.Cys7476Arg)
c.22264T>C (p.Cys7422Arg)
c.20704T>C (p.Cys6902Arg)
c.20197T>C (p.Cys6733Arg)
c.15664T>C (p.Cys5222Arg)
c.22402T>C (p.Cys7468Arg)
c.22351T>C (p.Cys7451Arg)
6g.152213713A>TCA366099418SYNE1c.22393T>A (p.Cys7465Ser)
c.22180T>A (p.Cys7394Ser)
c.21178T>A (p.Cys7060Ser)
c.1159T>A (p.Cys387Ser)
n.6085T>A
c.331T>A (p.Cys111Ser)
n.5977T>A
c.22429T>A (p.Cys7477Ser)
c.22417T>A (p.Cys7473Ser)
c.22408T>A (p.Cys7470Ser)
c.22378T>A (p.Cys7460Ser)
c.22414T>A (p.Cys7472Ser)
c.22357T>A (p.Cys7453Ser)
c.22288T>A (p.Cys7430Ser)
c.22276T>A (p.Cys7426Ser)
c.22273T>A (p.Cys7425Ser)
c.22270T>A (p.Cys7424Ser)
c.22426T>A (p.Cys7476Ser)
c.22264T>A (p.Cys7422Ser)
c.20704T>A (p.Cys6902Ser)
c.20197T>A (p.Cys6733Ser)
c.15664T>A (p.Cys5222Ser)
c.22402T>A (p.Cys7468Ser)
c.22351T>A (p.Cys7451Ser)
6g.152213714T>ACA366099420SYNE1c.22392A>T (p.Lys7464Asn)
c.22179A>T (p.Lys7393Asn)
c.21177A>T (p.Lys7059Asn)
c.1158A>T (p.Lys386Asn)
n.6084A>T
c.330A>T (p.Lys110Asn)
n.5976A>T
c.22428A>T (p.Lys7476Asn)
c.22416A>T (p.Lys7472Asn)
c.22407A>T (p.Lys7469Asn)
c.22377A>T (p.Lys7459Asn)
c.22413A>T (p.Lys7471Asn)
c.22356A>T (p.Lys7452Asn)
c.22287A>T (p.Lys7429Asn)
c.22275A>T (p.Lys7425Asn)
c.22272A>T (p.Lys7424Asn)
c.22269A>T (p.Lys7423Asn)
c.22425A>T (p.Lys7475Asn)
c.22263A>T (p.Lys7421Asn)
c.20703A>T (p.Lys6901Asn)
c.20196A>T (p.Lys6732Asn)
c.15663A>T (p.Lys5221Asn)
c.22401A>T (p.Lys7467Asn)
c.22350A>T (p.Lys7450Asn)
 gnomAD v4
6g.152213714T>CCA452748480SYNE1c.22392A>G (p.Lys7464=)
c.22179A>G (p.Lys7393=)
c.21177A>G (p.Lys7059=)
c.1158A>G (p.Lys386=)
n.6084A>G
c.330A>G (p.Lys110=)
n.5976A>G
c.22428A>G (p.Lys7476=)
c.22416A>G (p.Lys7472=)
c.22407A>G (p.Lys7469=)
c.22377A>G (p.Lys7459=)
c.22413A>G (p.Lys7471=)
c.22356A>G (p.Lys7452=)
c.22287A>G (p.Lys7429=)
c.22275A>G (p.Lys7425=)
c.22272A>G (p.Lys7424=)
c.22269A>G (p.Lys7423=)
c.22425A>G (p.Lys7475=)
c.22263A>G (p.Lys7421=)
c.20703A>G (p.Lys6901=)
c.20196A>G (p.Lys6732=)
c.15663A>G (p.Lys5221=)
c.22401A>G (p.Lys7467=)
c.22350A>G (p.Lys7450=)
6g.152213714T>GCA366099423SYNE1c.22392A>C (p.Lys7464Asn)
c.22179A>C (p.Lys7393Asn)
c.21177A>C (p.Lys7059Asn)
c.1158A>C (p.Lys386Asn)
n.6084A>C
c.330A>C (p.Lys110Asn)
n.5976A>C
c.22428A>C (p.Lys7476Asn)
c.22416A>C (p.Lys7472Asn)
c.22407A>C (p.Lys7469Asn)
c.22377A>C (p.Lys7459Asn)
c.22413A>C (p.Lys7471Asn)
c.22356A>C (p.Lys7452Asn)
c.22287A>C (p.Lys7429Asn)
c.22275A>C (p.Lys7425Asn)
c.22272A>C (p.Lys7424Asn)
c.22269A>C (p.Lys7423Asn)
c.22425A>C (p.Lys7475Asn)
c.22263A>C (p.Lys7421Asn)
c.20703A>C (p.Lys6901Asn)
c.20196A>C (p.Lys6732Asn)
c.15663A>C (p.Lys5221Asn)
c.22401A>C (p.Lys7467Asn)
c.22350A>C (p.Lys7450Asn)
6g.152213718delCA2555509718SYNE1c.22392del (p.Lys7464AsnfsTer9)
c.22179del (p.Lys7393AsnfsTer9)
c.21177del (p.Lys7059AsnfsTer9)
c.1158del (p.Lys386AsnfsTer9)
n.6084del
c.330del (p.Lys110AsnfsTer9)
n.5976del
c.22428del (p.Lys7476AsnfsTer9)
c.22416del (p.Lys7472AsnfsTer9)
c.22407del (p.Lys7469AsnfsTer9)
c.22377del (p.Lys7459AsnfsTer9)
c.22413del (p.Lys7471AsnfsTer9)
c.22356del (p.Lys7452AsnfsTer9)
c.22287del (p.Lys7429AsnfsTer9)
c.22275del (p.Lys7425AsnfsTer9)
c.22272del (p.Lys7424AsnfsTer9)
c.22269del (p.Lys7423AsnfsTer9)
c.22425del (p.Lys7475AsnfsTer9)
c.22263del (p.Lys7421AsnfsTer9)
c.20703del (p.Lys6901AsnfsTer9)
c.20196del (p.Lys6732AsnfsTer9)
c.15663del (p.Lys5221AsnfsTer9)
c.22401del (p.Lys7467AsnfsTer9)
c.22350del (p.Lys7450AsnfsTer9)
6g.152213715T>ACA366099424SYNE1c.22391A>T (p.Lys7464Ile)
c.22178A>T (p.Lys7393Ile)
c.21176A>T (p.Lys7059Ile)
c.1157A>T (p.Lys386Ile)
n.6083A>T
c.329A>T (p.Lys110Ile)
n.5975A>T
c.22427A>T (p.Lys7476Ile)
c.22415A>T (p.Lys7472Ile)
c.22406A>T (p.Lys7469Ile)
c.22376A>T (p.Lys7459Ile)
c.22412A>T (p.Lys7471Ile)
c.22355A>T (p.Lys7452Ile)
c.22286A>T (p.Lys7429Ile)
c.22274A>T (p.Lys7425Ile)
c.22271A>T (p.Lys7424Ile)
c.22268A>T (p.Lys7423Ile)
c.22424A>T (p.Lys7475Ile)
c.22262A>T (p.Lys7421Ile)
c.20702A>T (p.Lys6901Ile)
c.20195A>T (p.Lys6732Ile)
c.15662A>T (p.Lys5221Ile)
c.22400A>T (p.Lys7467Ile)
c.22349A>T (p.Lys7450Ile)
6g.152213715T>CCA366099426SYNE1c.22391A>G (p.Lys7464Arg)
c.22178A>G (p.Lys7393Arg)
c.21176A>G (p.Lys7059Arg)
c.1157A>G (p.Lys386Arg)
n.6083A>G
c.329A>G (p.Lys110Arg)
n.5975A>G
c.22427A>G (p.Lys7476Arg)
c.22415A>G (p.Lys7472Arg)
c.22406A>G (p.Lys7469Arg)
c.22376A>G (p.Lys7459Arg)
c.22412A>G (p.Lys7471Arg)
c.22355A>G (p.Lys7452Arg)
c.22286A>G (p.Lys7429Arg)
c.22274A>G (p.Lys7425Arg)
c.22271A>G (p.Lys7424Arg)
c.22268A>G (p.Lys7423Arg)
c.22424A>G (p.Lys7475Arg)
c.22262A>G (p.Lys7421Arg)
c.20702A>G (p.Lys6901Arg)
c.20195A>G (p.Lys6732Arg)
c.15662A>G (p.Lys5221Arg)
c.22400A>G (p.Lys7467Arg)
c.22349A>G (p.Lys7450Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.152213715T>GCA366099428SYNE1c.22391A>C (p.Lys7464Thr)
c.22178A>C (p.Lys7393Thr)
c.21176A>C (p.Lys7059Thr)
c.1157A>C (p.Lys386Thr)
n.6083A>C
c.329A>C (p.Lys110Thr)
n.5975A>C
c.22427A>C (p.Lys7476Thr)
c.22415A>C (p.Lys7472Thr)
c.22406A>C (p.Lys7469Thr)
c.22376A>C (p.Lys7459Thr)
c.22412A>C (p.Lys7471Thr)
c.22355A>C (p.Lys7452Thr)
c.22286A>C (p.Lys7429Thr)
c.22274A>C (p.Lys7425Thr)
c.22271A>C (p.Lys7424Thr)
c.22268A>C (p.Lys7423Thr)
c.22424A>C (p.Lys7475Thr)
c.22262A>C (p.Lys7421Thr)
c.20702A>C (p.Lys6901Thr)
c.20195A>C (p.Lys6732Thr)
c.15662A>C (p.Lys5221Thr)
c.22400A>C (p.Lys7467Thr)
c.22349A>C (p.Lys7450Thr)
6g.152213715T=CA1673241126SYNE1c.22391A= (p.Lys7464=)
c.22178A= (p.Lys7393=)
c.21176A= (p.Lys7059=)
c.1157A= (p.Lys386=)
n.6083A=
c.329A= (p.Lys110=)
n.5975A=
c.22427A= (p.Lys7476=)
c.22415A= (p.Lys7472=)
c.22406A= (p.Lys7469=)
c.22376A= (p.Lys7459=)
c.22412A= (p.Lys7471=)
c.22355A= (p.Lys7452=)
c.22286A= (p.Lys7429=)
c.22274A= (p.Lys7425=)
c.22271A= (p.Lys7424=)
c.22268A= (p.Lys7423=)
c.22424A= (p.Lys7475=)
c.22262A= (p.Lys7421=)
c.20702A= (p.Lys6901=)
c.20195A= (p.Lys6732=)
c.15662A= (p.Lys5221=)
c.22400A= (p.Lys7467=)
c.22349A= (p.Lys7450=)
6g.152213716T>ACA366099430SYNE1c.22390A>T (p.Lys7464Ter)
c.22177A>T (p.Lys7393Ter)
c.21175A>T (p.Lys7059Ter)
c.1156A>T (p.Lys386Ter)
n.6082A>T
c.328A>T (p.Lys110Ter)
n.5974A>T
c.22426A>T (p.Lys7476Ter)
c.22414A>T (p.Lys7472Ter)
c.22405A>T (p.Lys7469Ter)
c.22375A>T (p.Lys7459Ter)
c.22411A>T (p.Lys7471Ter)
c.22354A>T (p.Lys7452Ter)
c.22285A>T (p.Lys7429Ter)
c.22273A>T (p.Lys7425Ter)
c.22270A>T (p.Lys7424Ter)
c.22267A>T (p.Lys7423Ter)
c.22423A>T (p.Lys7475Ter)
c.22261A>T (p.Lys7421Ter)
c.20701A>T (p.Lys6901Ter)
c.20194A>T (p.Lys6732Ter)
c.15661A>T (p.Lys5221Ter)
c.22399A>T (p.Lys7467Ter)
c.22348A>T (p.Lys7450Ter)
6g.152213716T>CCA366099432SYNE1c.22390A>G (p.Lys7464Glu)
c.22177A>G (p.Lys7393Glu)
c.21175A>G (p.Lys7059Glu)
c.1156A>G (p.Lys386Glu)
n.6082A>G
c.328A>G (p.Lys110Glu)
n.5974A>G
c.22426A>G (p.Lys7476Glu)
c.22414A>G (p.Lys7472Glu)
c.22405A>G (p.Lys7469Glu)
c.22375A>G (p.Lys7459Glu)
c.22411A>G (p.Lys7471Glu)
c.22354A>G (p.Lys7452Glu)
c.22285A>G (p.Lys7429Glu)
c.22273A>G (p.Lys7425Glu)
c.22270A>G (p.Lys7424Glu)
c.22267A>G (p.Lys7423Glu)
c.22423A>G (p.Lys7475Glu)
c.22261A>G (p.Lys7421Glu)
c.20701A>G (p.Lys6901Glu)
c.20194A>G (p.Lys6732Glu)
c.15661A>G (p.Lys5221Glu)
c.22399A>G (p.Lys7467Glu)
c.22348A>G (p.Lys7450Glu)
6g.152213716T>GCA366099434SYNE1c.22390A>C (p.Lys7464Gln)
c.22177A>C (p.Lys7393Gln)
c.21175A>C (p.Lys7059Gln)
c.1156A>C (p.Lys386Gln)
n.6082A>C
c.328A>C (p.Lys110Gln)
n.5974A>C
c.22426A>C (p.Lys7476Gln)
c.22414A>C (p.Lys7472Gln)
c.22405A>C (p.Lys7469Gln)
c.22375A>C (p.Lys7459Gln)
c.22411A>C (p.Lys7471Gln)
c.22354A>C (p.Lys7452Gln)
c.22285A>C (p.Lys7429Gln)
c.22273A>C (p.Lys7425Gln)
c.22270A>C (p.Lys7424Gln)
c.22267A>C (p.Lys7423Gln)
c.22423A>C (p.Lys7475Gln)
c.22261A>C (p.Lys7421Gln)
c.20701A>C (p.Lys6901Gln)
c.20194A>C (p.Lys6732Gln)
c.15661A>C (p.Lys5221Gln)
c.22399A>C (p.Lys7467Gln)
c.22348A>C (p.Lys7450Gln)
6g.152213717T>ACA366099435SYNE1c.22389A>T (p.Glu7463Asp)
c.22176A>T (p.Glu7392Asp)
c.21174A>T (p.Glu7058Asp)
c.1155A>T (p.Glu385Asp)
n.6081A>T
c.327A>T (p.Glu109Asp)
n.5973A>T
c.22425A>T (p.Glu7475Asp)
c.22413A>T (p.Glu7471Asp)
c.22404A>T (p.Glu7468Asp)
c.22374A>T (p.Glu7458Asp)
c.22410A>T (p.Glu7470Asp)
c.22353A>T (p.Glu7451Asp)
c.22284A>T (p.Glu7428Asp)
c.22272A>T (p.Glu7424Asp)
c.22269A>T (p.Glu7423Asp)
c.22266A>T (p.Glu7422Asp)
c.22422A>T (p.Glu7474Asp)
c.22260A>T (p.Glu7420Asp)
c.20700A>T (p.Glu6900Asp)
c.20193A>T (p.Glu6731Asp)
c.15660A>T (p.Glu5220Asp)
c.22398A>T (p.Glu7466Asp)
c.22347A>T (p.Glu7449Asp)
6g.152213717T>CCA452748483SYNE1c.22389A>G (p.Glu7463=)
c.22176A>G (p.Glu7392=)
c.21174A>G (p.Glu7058=)
c.1155A>G (p.Glu385=)
n.6081A>G
c.327A>G (p.Glu109=)
n.5973A>G
c.22425A>G (p.Glu7475=)
c.22413A>G (p.Glu7471=)
c.22404A>G (p.Glu7468=)
c.22374A>G (p.Glu7458=)
c.22410A>G (p.Glu7470=)
c.22353A>G (p.Glu7451=)
c.22284A>G (p.Glu7428=)
c.22272A>G (p.Glu7424=)
c.22269A>G (p.Glu7423=)
c.22266A>G (p.Glu7422=)
c.22422A>G (p.Glu7474=)
c.22260A>G (p.Glu7420=)
c.20700A>G (p.Glu6900=)
c.20193A>G (p.Glu6731=)
c.15660A>G (p.Glu5220=)
c.22398A>G (p.Glu7466=)
c.22347A>G (p.Glu7449=)
 gnomAD v4
6g.152213717T>GCA366099437SYNE1c.22389A>C (p.Glu7463Asp)
c.22176A>C (p.Glu7392Asp)
c.21174A>C (p.Glu7058Asp)
c.1155A>C (p.Glu385Asp)
n.6081A>C
c.327A>C (p.Glu109Asp)
n.5973A>C
c.22425A>C (p.Glu7475Asp)
c.22413A>C (p.Glu7471Asp)
c.22404A>C (p.Glu7468Asp)
c.22374A>C (p.Glu7458Asp)
c.22410A>C (p.Glu7470Asp)
c.22353A>C (p.Glu7451Asp)
c.22284A>C (p.Glu7428Asp)
c.22272A>C (p.Glu7424Asp)
c.22269A>C (p.Glu7423Asp)
c.22266A>C (p.Glu7422Asp)
c.22422A>C (p.Glu7474Asp)
c.22260A>C (p.Glu7420Asp)
c.20700A>C (p.Glu6900Asp)
c.20193A>C (p.Glu6731Asp)
c.15660A>C (p.Glu5220Asp)
c.22398A>C (p.Glu7466Asp)
c.22347A>C (p.Glu7449Asp)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213717T=CA1673241127SYNE1c.22389A= (p.Glu7463=)
c.22176A= (p.Glu7392=)
c.21174A= (p.Glu7058=)
c.1155A= (p.Glu385=)
n.6081A=
c.327A= (p.Glu109=)
n.5973A=
c.22425A= (p.Glu7475=)
c.22413A= (p.Glu7471=)
c.22404A= (p.Glu7468=)
c.22374A= (p.Glu7458=)
c.22410A= (p.Glu7470=)
c.22353A= (p.Glu7451=)
c.22284A= (p.Glu7428=)
c.22272A= (p.Glu7424=)
c.22269A= (p.Glu7423=)
c.22266A= (p.Glu7422=)
c.22422A= (p.Glu7474=)
c.22260A= (p.Glu7420=)
c.20700A= (p.Glu6900=)
c.20193A= (p.Glu6731=)
c.15660A= (p.Glu5220=)
c.22398A= (p.Glu7466=)
c.22347A= (p.Glu7449=)
6g.152213718T>ACA366099439SYNE1c.22388A>T (p.Glu7463Val)
c.22175A>T (p.Glu7392Val)
c.21173A>T (p.Glu7058Val)
c.1154A>T (p.Glu385Val)
n.6080A>T
c.326A>T (p.Glu109Val)
n.5972A>T
c.22424A>T (p.Glu7475Val)
c.22412A>T (p.Glu7471Val)
c.22403A>T (p.Glu7468Val)
c.22373A>T (p.Glu7458Val)
c.22409A>T (p.Glu7470Val)
c.22352A>T (p.Glu7451Val)
c.22283A>T (p.Glu7428Val)
c.22271A>T (p.Glu7424Val)
c.22268A>T (p.Glu7423Val)
c.22265A>T (p.Glu7422Val)
c.22421A>T (p.Glu7474Val)
c.22259A>T (p.Glu7420Val)
c.20699A>T (p.Glu6900Val)
c.20192A>T (p.Glu6731Val)
c.15659A>T (p.Glu5220Val)
c.22397A>T (p.Glu7466Val)
c.22346A>T (p.Glu7449Val)
6g.152213718T>CCA366099443SYNE1c.22388A>G (p.Glu7463Gly)
c.22175A>G (p.Glu7392Gly)
c.21173A>G (p.Glu7058Gly)
c.1154A>G (p.Glu385Gly)
n.6080A>G
c.326A>G (p.Glu109Gly)
n.5972A>G
c.22424A>G (p.Glu7475Gly)
c.22412A>G (p.Glu7471Gly)
c.22403A>G (p.Glu7468Gly)
c.22373A>G (p.Glu7458Gly)
c.22409A>G (p.Glu7470Gly)
c.22352A>G (p.Glu7451Gly)
c.22283A>G (p.Glu7428Gly)
c.22271A>G (p.Glu7424Gly)
c.22268A>G (p.Glu7423Gly)
c.22265A>G (p.Glu7422Gly)
c.22421A>G (p.Glu7474Gly)
c.22259A>G (p.Glu7420Gly)
c.20699A>G (p.Glu6900Gly)
c.20192A>G (p.Glu6731Gly)
c.15659A>G (p.Glu5220Gly)
c.22397A>G (p.Glu7466Gly)
c.22346A>G (p.Glu7449Gly)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213718T>GCA366099441SYNE1c.22388A>C (p.Glu7463Ala)
c.22175A>C (p.Glu7392Ala)
c.21173A>C (p.Glu7058Ala)
c.1154A>C (p.Glu385Ala)
n.6080A>C
c.326A>C (p.Glu109Ala)
n.5972A>C
c.22424A>C (p.Glu7475Ala)
c.22412A>C (p.Glu7471Ala)
c.22403A>C (p.Glu7468Ala)
c.22373A>C (p.Glu7458Ala)
c.22409A>C (p.Glu7470Ala)
c.22352A>C (p.Glu7451Ala)
c.22283A>C (p.Glu7428Ala)
c.22271A>C (p.Glu7424Ala)
c.22268A>C (p.Glu7423Ala)
c.22265A>C (p.Glu7422Ala)
c.22421A>C (p.Glu7474Ala)
c.22259A>C (p.Glu7420Ala)
c.20699A>C (p.Glu6900Ala)
c.20192A>C (p.Glu6731Ala)
c.15659A>C (p.Glu5220Ala)
c.22397A>C (p.Glu7466Ala)
c.22346A>C (p.Glu7449Ala)
6g.152213719C>ACA366099445SYNE1c.22387G>T (p.Glu7463Ter)
c.22174G>T (p.Glu7392Ter)
c.21172G>T (p.Glu7058Ter)
c.1153G>T (p.Glu385Ter)
n.6079G>T
c.325G>T (p.Glu109Ter)
n.5971G>T
c.22423G>T (p.Glu7475Ter)
c.22411G>T (p.Glu7471Ter)
c.22402G>T (p.Glu7468Ter)
c.22372G>T (p.Glu7458Ter)
c.22408G>T (p.Glu7470Ter)
c.22351G>T (p.Glu7451Ter)
c.22282G>T (p.Glu7428Ter)
c.22270G>T (p.Glu7424Ter)
c.22267G>T (p.Glu7423Ter)
c.22264G>T (p.Glu7422Ter)
c.22420G>T (p.Glu7474Ter)
c.22258G>T (p.Glu7420Ter)
c.20698G>T (p.Glu6900Ter)
c.20191G>T (p.Glu6731Ter)
c.15658G>T (p.Glu5220Ter)
c.22396G>T (p.Glu7466Ter)
c.22345G>T (p.Glu7449Ter)
6g.152213719C>GCA366099446SYNE1c.22387G>C (p.Glu7463Gln)
c.22174G>C (p.Glu7392Gln)
c.21172G>C (p.Glu7058Gln)
c.1153G>C (p.Glu385Gln)
n.6079G>C
c.325G>C (p.Glu109Gln)
n.5971G>C
c.22423G>C (p.Glu7475Gln)
c.22411G>C (p.Glu7471Gln)
c.22402G>C (p.Glu7468Gln)
c.22372G>C (p.Glu7458Gln)
c.22408G>C (p.Glu7470Gln)
c.22351G>C (p.Glu7451Gln)
c.22282G>C (p.Glu7428Gln)
c.22270G>C (p.Glu7424Gln)
c.22267G>C (p.Glu7423Gln)
c.22264G>C (p.Glu7422Gln)
c.22420G>C (p.Glu7474Gln)
c.22258G>C (p.Glu7420Gln)
c.20698G>C (p.Glu6900Gln)
c.20191G>C (p.Glu6731Gln)
c.15658G>C (p.Glu5220Gln)
c.22396G>C (p.Glu7466Gln)
c.22345G>C (p.Glu7449Gln)
6g.152213719C>TCA366099449SYNE1c.22387G>A (p.Glu7463Lys)
c.22174G>A (p.Glu7392Lys)
c.21172G>A (p.Glu7058Lys)
c.1153G>A (p.Glu385Lys)
n.6079G>A
c.325G>A (p.Glu109Lys)
n.5971G>A
c.22423G>A (p.Glu7475Lys)
c.22411G>A (p.Glu7471Lys)
c.22402G>A (p.Glu7468Lys)
c.22372G>A (p.Glu7458Lys)
c.22408G>A (p.Glu7470Lys)
c.22351G>A (p.Glu7451Lys)
c.22282G>A (p.Glu7428Lys)
c.22270G>A (p.Glu7424Lys)
c.22267G>A (p.Glu7423Lys)
c.22264G>A (p.Glu7422Lys)
c.22420G>A (p.Glu7474Lys)
c.22258G>A (p.Glu7420Lys)
c.20698G>A (p.Glu6900Lys)
c.20191G>A (p.Glu6731Lys)
c.15658G>A (p.Glu5220Lys)
c.22396G>A (p.Glu7466Lys)
c.22345G>A (p.Glu7449Lys)
6g.152213720C>ACA366099451SYNE1c.22386G>T (p.Leu7462Phe)
c.22173G>T (p.Leu7391Phe)
c.21171G>T (p.Leu7057Phe)
c.1152G>T (p.Leu384Phe)
n.6078G>T
c.324G>T (p.Leu108Phe)
n.5970G>T
c.22422G>T (p.Leu7474Phe)
c.22410G>T (p.Leu7470Phe)
c.22401G>T (p.Leu7467Phe)
c.22371G>T (p.Leu7457Phe)
c.22407G>T (p.Leu7469Phe)
c.22350G>T (p.Leu7450Phe)
c.22281G>T (p.Leu7427Phe)
c.22269G>T (p.Leu7423Phe)
c.22266G>T (p.Leu7422Phe)
c.22263G>T (p.Leu7421Phe)
c.22419G>T (p.Leu7473Phe)
c.22257G>T (p.Leu7419Phe)
c.20697G>T (p.Leu6899Phe)
c.20190G>T (p.Leu6730Phe)
c.15657G>T (p.Leu5219Phe)
c.22395G>T (p.Leu7465Phe)
c.22344G>T (p.Leu7448Phe)
6g.152213720C>GCA366099453SYNE1c.22386G>C (p.Leu7462Phe)
c.22173G>C (p.Leu7391Phe)
c.21171G>C (p.Leu7057Phe)
c.1152G>C (p.Leu384Phe)
n.6078G>C
c.324G>C (p.Leu108Phe)
n.5970G>C
c.22422G>C (p.Leu7474Phe)
c.22410G>C (p.Leu7470Phe)
c.22401G>C (p.Leu7467Phe)
c.22371G>C (p.Leu7457Phe)
c.22407G>C (p.Leu7469Phe)
c.22350G>C (p.Leu7450Phe)
c.22281G>C (p.Leu7427Phe)
c.22269G>C (p.Leu7423Phe)
c.22266G>C (p.Leu7422Phe)
c.22263G>C (p.Leu7421Phe)
c.22419G>C (p.Leu7473Phe)
c.22257G>C (p.Leu7419Phe)
c.20697G>C (p.Leu6899Phe)
c.20190G>C (p.Leu6730Phe)
c.15657G>C (p.Leu5219Phe)
c.22395G>C (p.Leu7465Phe)
c.22344G>C (p.Leu7448Phe)
6g.152213720C>TCA452748484SYNE1c.22386G>A (p.Leu7462=)
c.22173G>A (p.Leu7391=)
c.21171G>A (p.Leu7057=)
c.1152G>A (p.Leu384=)
n.6078G>A
c.324G>A (p.Leu108=)
n.5970G>A
c.22422G>A (p.Leu7474=)
c.22410G>A (p.Leu7470=)
c.22401G>A (p.Leu7467=)
c.22371G>A (p.Leu7457=)
c.22407G>A (p.Leu7469=)
c.22350G>A (p.Leu7450=)
c.22281G>A (p.Leu7427=)
c.22269G>A (p.Leu7423=)
c.22266G>A (p.Leu7422=)
c.22263G>A (p.Leu7421=)
c.22419G>A (p.Leu7473=)
c.22257G>A (p.Leu7419=)
c.20697G>A (p.Leu6899=)
c.20190G>A (p.Leu6730=)
c.15657G>A (p.Leu5219=)
c.22395G>A (p.Leu7465=)
c.22344G>A (p.Leu7448=)
6g.152213721A>CCA366099455SYNE1c.22385T>G (p.Leu7462Trp)
c.22172T>G (p.Leu7391Trp)
c.21170T>G (p.Leu7057Trp)
c.1151T>G (p.Leu384Trp)
n.6077T>G
c.323T>G (p.Leu108Trp)
n.5969T>G
c.22421T>G (p.Leu7474Trp)
c.22409T>G (p.Leu7470Trp)
c.22400T>G (p.Leu7467Trp)
c.22370T>G (p.Leu7457Trp)
c.22406T>G (p.Leu7469Trp)
c.22349T>G (p.Leu7450Trp)
c.22280T>G (p.Leu7427Trp)
c.22268T>G (p.Leu7423Trp)
c.22265T>G (p.Leu7422Trp)
c.22262T>G (p.Leu7421Trp)
c.22418T>G (p.Leu7473Trp)
c.22256T>G (p.Leu7419Trp)
c.20696T>G (p.Leu6899Trp)
c.20189T>G (p.Leu6730Trp)
c.15656T>G (p.Leu5219Trp)
c.22394T>G (p.Leu7465Trp)
c.22343T>G (p.Leu7448Trp)
6g.152213721A>GCA366099457SYNE1c.22385T>C (p.Leu7462Ser)
c.22172T>C (p.Leu7391Ser)
c.21170T>C (p.Leu7057Ser)
c.1151T>C (p.Leu384Ser)
n.6077T>C
c.323T>C (p.Leu108Ser)
n.5969T>C
c.22421T>C (p.Leu7474Ser)
c.22409T>C (p.Leu7470Ser)
c.22400T>C (p.Leu7467Ser)
c.22370T>C (p.Leu7457Ser)
c.22406T>C (p.Leu7469Ser)
c.22349T>C (p.Leu7450Ser)
c.22280T>C (p.Leu7427Ser)
c.22268T>C (p.Leu7423Ser)
c.22265T>C (p.Leu7422Ser)
c.22262T>C (p.Leu7421Ser)
c.22418T>C (p.Leu7473Ser)
c.22256T>C (p.Leu7419Ser)
c.20696T>C (p.Leu6899Ser)
c.20189T>C (p.Leu6730Ser)
c.15656T>C (p.Leu5219Ser)
c.22394T>C (p.Leu7465Ser)
c.22343T>C (p.Leu7448Ser)
6g.152213721A>TCA366099459SYNE1c.22385T>A (p.Leu7462Ter)
c.22172T>A (p.Leu7391Ter)
c.21170T>A (p.Leu7057Ter)
c.1151T>A (p.Leu384Ter)
n.6077T>A
c.323T>A (p.Leu108Ter)
n.5969T>A
c.22421T>A (p.Leu7474Ter)
c.22409T>A (p.Leu7470Ter)
c.22400T>A (p.Leu7467Ter)
c.22370T>A (p.Leu7457Ter)
c.22406T>A (p.Leu7469Ter)
c.22349T>A (p.Leu7450Ter)
c.22280T>A (p.Leu7427Ter)
c.22268T>A (p.Leu7423Ter)
c.22265T>A (p.Leu7422Ter)
c.22262T>A (p.Leu7421Ter)
c.22418T>A (p.Leu7473Ter)
c.22256T>A (p.Leu7419Ter)
c.20696T>A (p.Leu6899Ter)
c.20189T>A (p.Leu6730Ter)
c.15656T>A (p.Leu5219Ter)
c.22394T>A (p.Leu7465Ter)
c.22343T>A (p.Leu7448Ter)
6g.152213722A>CCA366099461SYNE1c.22384T>G (p.Leu7462Val)
c.22171T>G (p.Leu7391Val)
c.21169T>G (p.Leu7057Val)
c.1150T>G (p.Leu384Val)
n.6076T>G
c.322T>G (p.Leu108Val)
n.5968T>G
c.22420T>G (p.Leu7474Val)
c.22408T>G (p.Leu7470Val)
c.22399T>G (p.Leu7467Val)
c.22369T>G (p.Leu7457Val)
c.22405T>G (p.Leu7469Val)
c.22348T>G (p.Leu7450Val)
c.22279T>G (p.Leu7427Val)
c.22267T>G (p.Leu7423Val)
c.22264T>G (p.Leu7422Val)
c.22261T>G (p.Leu7421Val)
c.22417T>G (p.Leu7473Val)
c.22255T>G (p.Leu7419Val)
c.20695T>G (p.Leu6899Val)
c.20188T>G (p.Leu6730Val)
c.15655T>G (p.Leu5219Val)
c.22393T>G (p.Leu7465Val)
c.22342T>G (p.Leu7448Val)
6g.152213722A>GCA452748485SYNE1c.22384T>C (p.Leu7462=)
c.22171T>C (p.Leu7391=)
c.21169T>C (p.Leu7057=)
c.1150T>C (p.Leu384=)
n.6076T>C
c.322T>C (p.Leu108=)
n.5968T>C
c.22420T>C (p.Leu7474=)
c.22408T>C (p.Leu7470=)
c.22399T>C (p.Leu7467=)
c.22369T>C (p.Leu7457=)
c.22405T>C (p.Leu7469=)
c.22348T>C (p.Leu7450=)
c.22279T>C (p.Leu7427=)
c.22267T>C (p.Leu7423=)
c.22264T>C (p.Leu7422=)
c.22261T>C (p.Leu7421=)
c.22417T>C (p.Leu7473=)
c.22255T>C (p.Leu7419=)
c.20695T>C (p.Leu6899=)
c.20188T>C (p.Leu6730=)
c.15655T>C (p.Leu5219=)
c.22393T>C (p.Leu7465=)
c.22342T>C (p.Leu7448=)
 gnomAD v4
6g.152213722A>TCA366099463SYNE1c.22384T>A (p.Leu7462Met)
c.22171T>A (p.Leu7391Met)
c.21169T>A (p.Leu7057Met)
c.1150T>A (p.Leu384Met)
n.6076T>A
c.322T>A (p.Leu108Met)
n.5968T>A
c.22420T>A (p.Leu7474Met)
c.22408T>A (p.Leu7470Met)
c.22399T>A (p.Leu7467Met)
c.22369T>A (p.Leu7457Met)
c.22405T>A (p.Leu7469Met)
c.22348T>A (p.Leu7450Met)
c.22279T>A (p.Leu7427Met)
c.22267T>A (p.Leu7423Met)
c.22264T>A (p.Leu7422Met)
c.22261T>A (p.Leu7421Met)
c.22417T>A (p.Leu7473Met)
c.22255T>A (p.Leu7419Met)
c.20695T>A (p.Leu6899Met)
c.20188T>A (p.Leu6730Met)
c.15655T>A (p.Leu5219Met)
c.22393T>A (p.Leu7465Met)
c.22342T>A (p.Leu7448Met)
6g.152213723G>ACA452748486SYNE1c.22383C>T (p.Phe7461=)
c.22170C>T (p.Phe7390=)
c.21168C>T (p.Phe7056=)
c.1149C>T (p.Phe383=)
n.6075C>T
c.321C>T (p.Phe107=)
n.5967C>T
c.22419C>T (p.Phe7473=)
c.22407C>T (p.Phe7469=)
c.22398C>T (p.Phe7466=)
c.22368C>T (p.Phe7456=)
c.22404C>T (p.Phe7468=)
c.22347C>T (p.Phe7449=)
c.22278C>T (p.Phe7426=)
c.22266C>T (p.Phe7422=)
c.22263C>T (p.Phe7421=)
c.22260C>T (p.Phe7420=)
c.22416C>T (p.Phe7472=)
c.22254C>T (p.Phe7418=)
c.20694C>T (p.Phe6898=)
c.20187C>T (p.Phe6729=)
c.15654C>T (p.Phe5218=)
c.22392C>T (p.Phe7464=)
c.22341C>T (p.Phe7447=)
6g.152213723G>CCA366099465SYNE1c.22383C>G (p.Phe7461Leu)
c.22170C>G (p.Phe7390Leu)
c.21168C>G (p.Phe7056Leu)
c.1149C>G (p.Phe383Leu)
n.6075C>G
c.321C>G (p.Phe107Leu)
n.5967C>G
c.22419C>G (p.Phe7473Leu)
c.22407C>G (p.Phe7469Leu)
c.22398C>G (p.Phe7466Leu)
c.22368C>G (p.Phe7456Leu)
c.22404C>G (p.Phe7468Leu)
c.22347C>G (p.Phe7449Leu)
c.22278C>G (p.Phe7426Leu)
c.22266C>G (p.Phe7422Leu)
c.22263C>G (p.Phe7421Leu)
c.22260C>G (p.Phe7420Leu)
c.22416C>G (p.Phe7472Leu)
c.22254C>G (p.Phe7418Leu)
c.20694C>G (p.Phe6898Leu)
c.20187C>G (p.Phe6729Leu)
c.15654C>G (p.Phe5218Leu)
c.22392C>G (p.Phe7464Leu)
c.22341C>G (p.Phe7447Leu)
6g.152213723G>TCA366099467SYNE1c.22383C>A (p.Phe7461Leu)
c.22170C>A (p.Phe7390Leu)
c.21168C>A (p.Phe7056Leu)
c.1149C>A (p.Phe383Leu)
n.6075C>A
c.321C>A (p.Phe107Leu)
n.5967C>A
c.22419C>A (p.Phe7473Leu)
c.22407C>A (p.Phe7469Leu)
c.22398C>A (p.Phe7466Leu)
c.22368C>A (p.Phe7456Leu)
c.22404C>A (p.Phe7468Leu)
c.22347C>A (p.Phe7449Leu)
c.22278C>A (p.Phe7426Leu)
c.22266C>A (p.Phe7422Leu)
c.22263C>A (p.Phe7421Leu)
c.22260C>A (p.Phe7420Leu)
c.22416C>A (p.Phe7472Leu)
c.22254C>A (p.Phe7418Leu)
c.20694C>A (p.Phe6898Leu)
c.20187C>A (p.Phe6729Leu)
c.15654C>A (p.Phe5218Leu)
c.22392C>A (p.Phe7464Leu)
c.22341C>A (p.Phe7447Leu)
6g.152213724A>CCA366099469SYNE1c.22382T>G (p.Phe7461Cys)
c.22169T>G (p.Phe7390Cys)
c.21167T>G (p.Phe7056Cys)
c.1148T>G (p.Phe383Cys)
n.6074T>G
c.320T>G (p.Phe107Cys)
n.5966T>G
c.22418T>G (p.Phe7473Cys)
c.22406T>G (p.Phe7469Cys)
c.22397T>G (p.Phe7466Cys)
c.22367T>G (p.Phe7456Cys)
c.22403T>G (p.Phe7468Cys)
c.22346T>G (p.Phe7449Cys)
c.22277T>G (p.Phe7426Cys)
c.22265T>G (p.Phe7422Cys)
c.22262T>G (p.Phe7421Cys)
c.22259T>G (p.Phe7420Cys)
c.22415T>G (p.Phe7472Cys)
c.22253T>G (p.Phe7418Cys)
c.20693T>G (p.Phe6898Cys)
c.20186T>G (p.Phe6729Cys)
c.15653T>G (p.Phe5218Cys)
c.22391T>G (p.Phe7464Cys)
c.22340T>G (p.Phe7447Cys)
6g.152213724A>GCA366099472SYNE1c.22382T>C (p.Phe7461Ser)
c.22169T>C (p.Phe7390Ser)
c.21167T>C (p.Phe7056Ser)
c.1148T>C (p.Phe383Ser)
n.6074T>C
c.320T>C (p.Phe107Ser)
n.5966T>C
c.22418T>C (p.Phe7473Ser)
c.22406T>C (p.Phe7469Ser)
c.22397T>C (p.Phe7466Ser)
c.22367T>C (p.Phe7456Ser)
c.22403T>C (p.Phe7468Ser)
c.22346T>C (p.Phe7449Ser)
c.22277T>C (p.Phe7426Ser)
c.22265T>C (p.Phe7422Ser)
c.22262T>C (p.Phe7421Ser)
c.22259T>C (p.Phe7420Ser)
c.22415T>C (p.Phe7472Ser)
c.22253T>C (p.Phe7418Ser)
c.20693T>C (p.Phe6898Ser)
c.20186T>C (p.Phe6729Ser)
c.15653T>C (p.Phe5218Ser)
c.22391T>C (p.Phe7464Ser)
c.22340T>C (p.Phe7447Ser)
 gnomAD v4
6g.152213724A>TCA366099471SYNE1c.22382T>A (p.Phe7461Tyr)
c.22169T>A (p.Phe7390Tyr)
c.21167T>A (p.Phe7056Tyr)
c.1148T>A (p.Phe383Tyr)
n.6074T>A
c.320T>A (p.Phe107Tyr)
n.5966T>A
c.22418T>A (p.Phe7473Tyr)
c.22406T>A (p.Phe7469Tyr)
c.22397T>A (p.Phe7466Tyr)
c.22367T>A (p.Phe7456Tyr)
c.22403T>A (p.Phe7468Tyr)
c.22346T>A (p.Phe7449Tyr)
c.22277T>A (p.Phe7426Tyr)
c.22265T>A (p.Phe7422Tyr)
c.22262T>A (p.Phe7421Tyr)
c.22259T>A (p.Phe7420Tyr)
c.22415T>A (p.Phe7472Tyr)
c.22253T>A (p.Phe7418Tyr)
c.20693T>A (p.Phe6898Tyr)
c.20186T>A (p.Phe6729Tyr)
c.15653T>A (p.Phe5218Tyr)
c.22391T>A (p.Phe7464Tyr)
c.22340T>A (p.Phe7447Tyr)
6g.152213726dupCA2680818738SYNE1c.22382dup (p.Glu7463GlyfsTer4)
c.22169dup (p.Glu7392GlyfsTer4)
c.21167dup (p.Glu7058GlyfsTer4)
c.1148dup (p.Glu385GlyfsTer4)
n.6074dup
c.320dup (p.Glu109GlyfsTer4)
n.5966dup
c.22418dup (p.Glu7475GlyfsTer4)
c.22406dup (p.Glu7471GlyfsTer4)
c.22397dup (p.Glu7468GlyfsTer4)
c.22367dup (p.Glu7458GlyfsTer4)
c.22403dup (p.Glu7470GlyfsTer4)
c.22346dup (p.Glu7451GlyfsTer4)
c.22277dup (p.Glu7428GlyfsTer4)
c.22265dup (p.Glu7424GlyfsTer4)
c.22262dup (p.Glu7423GlyfsTer4)
c.22259dup (p.Glu7422GlyfsTer4)
c.22415dup (p.Glu7474GlyfsTer4)
c.22253dup (p.Glu7420GlyfsTer4)
c.20693dup (p.Glu6900GlyfsTer4)
c.20186dup (p.Glu6731GlyfsTer4)
c.15653dup (p.Glu5220GlyfsTer4)
c.22391dup (p.Glu7466GlyfsTer4)
c.22340dup (p.Glu7449GlyfsTer4)
 gnomAD v4
6g.152213725A>CCA366099473SYNE1c.22381T>G (p.Phe7461Val)
c.22168T>G (p.Phe7390Val)
c.21166T>G (p.Phe7056Val)
c.1147T>G (p.Phe383Val)
n.6073T>G
c.319T>G (p.Phe107Val)
n.5965T>G
c.22417T>G (p.Phe7473Val)
c.22405T>G (p.Phe7469Val)
c.22396T>G (p.Phe7466Val)
c.22366T>G (p.Phe7456Val)
c.22402T>G (p.Phe7468Val)
c.22345T>G (p.Phe7449Val)
c.22276T>G (p.Phe7426Val)
c.22264T>G (p.Phe7422Val)
c.22261T>G (p.Phe7421Val)
c.22258T>G (p.Phe7420Val)
c.22414T>G (p.Phe7472Val)
c.22252T>G (p.Phe7418Val)
c.20692T>G (p.Phe6898Val)
c.20185T>G (p.Phe6729Val)
c.15652T>G (p.Phe5218Val)
c.22390T>G (p.Phe7464Val)
c.22339T>G (p.Phe7447Val)
 gnomAD v4
6g.152213725A>GCA366099476SYNE1c.22381T>C (p.Phe7461Leu)
c.22168T>C (p.Phe7390Leu)
c.21166T>C (p.Phe7056Leu)
c.1147T>C (p.Phe383Leu)
n.6073T>C
c.319T>C (p.Phe107Leu)
n.5965T>C
c.22417T>C (p.Phe7473Leu)
c.22405T>C (p.Phe7469Leu)
c.22396T>C (p.Phe7466Leu)
c.22366T>C (p.Phe7456Leu)
c.22402T>C (p.Phe7468Leu)
c.22345T>C (p.Phe7449Leu)
c.22276T>C (p.Phe7426Leu)
c.22264T>C (p.Phe7422Leu)
c.22261T>C (p.Phe7421Leu)
c.22258T>C (p.Phe7420Leu)
c.22414T>C (p.Phe7472Leu)
c.22252T>C (p.Phe7418Leu)
c.20692T>C (p.Phe6898Leu)
c.20185T>C (p.Phe6729Leu)
c.15652T>C (p.Phe5218Leu)
c.22390T>C (p.Phe7464Leu)
c.22339T>C (p.Phe7447Leu)
6g.152213725A>TCA366099474SYNE1c.22381T>A (p.Phe7461Ile)
c.22168T>A (p.Phe7390Ile)
c.21166T>A (p.Phe7056Ile)
c.1147T>A (p.Phe383Ile)
n.6073T>A
c.319T>A (p.Phe107Ile)
n.5965T>A
c.22417T>A (p.Phe7473Ile)
c.22405T>A (p.Phe7469Ile)
c.22396T>A (p.Phe7466Ile)
c.22366T>A (p.Phe7456Ile)
c.22402T>A (p.Phe7468Ile)
c.22345T>A (p.Phe7449Ile)
c.22276T>A (p.Phe7426Ile)
c.22264T>A (p.Phe7422Ile)
c.22261T>A (p.Phe7421Ile)
c.22258T>A (p.Phe7420Ile)
c.22414T>A (p.Phe7472Ile)
c.22252T>A (p.Phe7418Ile)
c.20692T>A (p.Phe6898Ile)
c.20185T>A (p.Phe6729Ile)
c.15652T>A (p.Phe5218Ile)
c.22390T>A (p.Phe7464Ile)
c.22339T>A (p.Phe7447Ile)
6g.152213726A=CA1673241128SYNE1c.22380T= (p.Thr7460=)
c.22167T= (p.Thr7389=)
c.21165T= (p.Thr7055=)
c.1146T= (p.Thr382=)
n.6072T=
c.318T= (p.Thr106=)
n.5964T=
c.22416T= (p.Thr7472=)
c.22404T= (p.Thr7468=)
c.22395T= (p.Thr7465=)
c.22365T= (p.Thr7455=)
c.22401T= (p.Thr7467=)
c.22344T= (p.Thr7448=)
c.22275T= (p.Thr7425=)
c.22263T= (p.Thr7421=)
c.22260T= (p.Thr7420=)
c.22257T= (p.Thr7419=)
c.22413T= (p.Thr7471=)
c.22251T= (p.Thr7417=)
c.20691T= (p.Thr6897=)
c.20184T= (p.Thr6728=)
c.15651T= (p.Thr5217=)
c.22389T= (p.Thr7463=)
c.22338T= (p.Thr7446=)
6g.152213726A>CCA452748490SYNE1c.22380T>G (p.Thr7460=)
c.22167T>G (p.Thr7389=)
c.21165T>G (p.Thr7055=)
c.1146T>G (p.Thr382=)
n.6072T>G
c.318T>G (p.Thr106=)
n.5964T>G
c.22416T>G (p.Thr7472=)
c.22404T>G (p.Thr7468=)
c.22395T>G (p.Thr7465=)
c.22365T>G (p.Thr7455=)
c.22401T>G (p.Thr7467=)
c.22344T>G (p.Thr7448=)
c.22275T>G (p.Thr7425=)
c.22263T>G (p.Thr7421=)
c.22260T>G (p.Thr7420=)
c.22257T>G (p.Thr7419=)
c.22413T>G (p.Thr7471=)
c.22251T>G (p.Thr7417=)
c.20691T>G (p.Thr6897=)
c.20184T>G (p.Thr6728=)
c.15651T>G (p.Thr5217=)
c.22389T>G (p.Thr7463=)
c.22338T>G (p.Thr7446=)
6g.152213726A>GCA452748491SYNE1c.22380T>C (p.Thr7460=)
c.22167T>C (p.Thr7389=)
c.21165T>C (p.Thr7055=)
c.1146T>C (p.Thr382=)
n.6072T>C
c.318T>C (p.Thr106=)
n.5964T>C
c.22416T>C (p.Thr7472=)
c.22404T>C (p.Thr7468=)
c.22395T>C (p.Thr7465=)
c.22365T>C (p.Thr7455=)
c.22401T>C (p.Thr7467=)
c.22344T>C (p.Thr7448=)
c.22275T>C (p.Thr7425=)
c.22263T>C (p.Thr7421=)
c.22260T>C (p.Thr7420=)
c.22257T>C (p.Thr7419=)
c.22413T>C (p.Thr7471=)
c.22251T>C (p.Thr7417=)
c.20691T>C (p.Thr6897=)
c.20184T>C (p.Thr6728=)
c.15651T>C (p.Thr5217=)
c.22389T>C (p.Thr7463=)
c.22338T>C (p.Thr7446=)
 dbSNP gnomAD v2
6g.152213726A>TCA452748492SYNE1c.22380T>A (p.Thr7460=)
c.22167T>A (p.Thr7389=)
c.21165T>A (p.Thr7055=)
c.1146T>A (p.Thr382=)
n.6072T>A
c.318T>A (p.Thr106=)
n.5964T>A
c.22416T>A (p.Thr7472=)
c.22404T>A (p.Thr7468=)
c.22395T>A (p.Thr7465=)
c.22365T>A (p.Thr7455=)
c.22401T>A (p.Thr7467=)
c.22344T>A (p.Thr7448=)
c.22275T>A (p.Thr7425=)
c.22263T>A (p.Thr7421=)
c.22260T>A (p.Thr7420=)
c.22257T>A (p.Thr7419=)
c.22413T>A (p.Thr7471=)
c.22251T>A (p.Thr7417=)
c.20691T>A (p.Thr6897=)
c.20184T>A (p.Thr6728=)
c.15651T>A (p.Thr5217=)
c.22389T>A (p.Thr7463=)
c.22338T>A (p.Thr7446=)
6g.152213727G>ACA366099478SYNE1c.22379C>T (p.Thr7460Ile)
c.22166C>T (p.Thr7389Ile)
c.21164C>T (p.Thr7055Ile)
c.1145C>T (p.Thr382Ile)
n.6071C>T
c.317C>T (p.Thr106Ile)
n.5963C>T
c.22415C>T (p.Thr7472Ile)
c.22403C>T (p.Thr7468Ile)
c.22394C>T (p.Thr7465Ile)
c.22364C>T (p.Thr7455Ile)
c.22400C>T (p.Thr7467Ile)
c.22343C>T (p.Thr7448Ile)
c.22274C>T (p.Thr7425Ile)
c.22262C>T (p.Thr7421Ile)
c.22259C>T (p.Thr7420Ile)
c.22256C>T (p.Thr7419Ile)
c.22412C>T (p.Thr7471Ile)
c.22250C>T (p.Thr7417Ile)
c.20690C>T (p.Thr6897Ile)
c.20183C>T (p.Thr6728Ile)
c.15650C>T (p.Thr5217Ile)
c.22388C>T (p.Thr7463Ile)
c.22337C>T (p.Thr7446Ile)
6g.152213727G>CCA366099482SYNE1c.22379C>G (p.Thr7460Ser)
c.22166C>G (p.Thr7389Ser)
c.21164C>G (p.Thr7055Ser)
c.1145C>G (p.Thr382Ser)
n.6071C>G
c.317C>G (p.Thr106Ser)
n.5963C>G
c.22415C>G (p.Thr7472Ser)
c.22403C>G (p.Thr7468Ser)
c.22394C>G (p.Thr7465Ser)
c.22364C>G (p.Thr7455Ser)
c.22400C>G (p.Thr7467Ser)
c.22343C>G (p.Thr7448Ser)
c.22274C>G (p.Thr7425Ser)
c.22262C>G (p.Thr7421Ser)
c.22259C>G (p.Thr7420Ser)
c.22256C>G (p.Thr7419Ser)
c.22412C>G (p.Thr7471Ser)
c.22250C>G (p.Thr7417Ser)
c.20690C>G (p.Thr6897Ser)
c.20183C>G (p.Thr6728Ser)
c.15650C>G (p.Thr5217Ser)
c.22388C>G (p.Thr7463Ser)
c.22337C>G (p.Thr7446Ser)
6g.152213727G>TCA366099479SYNE1c.22379C>A (p.Thr7460Asn)
c.22166C>A (p.Thr7389Asn)
c.21164C>A (p.Thr7055Asn)
c.1145C>A (p.Thr382Asn)
n.6071C>A
c.317C>A (p.Thr106Asn)
n.5963C>A
c.22415C>A (p.Thr7472Asn)
c.22403C>A (p.Thr7468Asn)
c.22394C>A (p.Thr7465Asn)
c.22364C>A (p.Thr7455Asn)
c.22400C>A (p.Thr7467Asn)
c.22343C>A (p.Thr7448Asn)
c.22274C>A (p.Thr7425Asn)
c.22262C>A (p.Thr7421Asn)
c.22259C>A (p.Thr7420Asn)
c.22256C>A (p.Thr7419Asn)
c.22412C>A (p.Thr7471Asn)
c.22250C>A (p.Thr7417Asn)
c.20690C>A (p.Thr6897Asn)
c.20183C>A (p.Thr6728Asn)
c.15650C>A (p.Thr5217Asn)
c.22388C>A (p.Thr7463Asn)
c.22337C>A (p.Thr7446Asn)
 gnomAD v4
6g.152213728T>ACA366099484SYNE1c.22378A>T (p.Thr7460Ser)
c.22165A>T (p.Thr7389Ser)
c.21163A>T (p.Thr7055Ser)
c.1144A>T (p.Thr382Ser)
n.6070A>T
c.316A>T (p.Thr106Ser)
n.5962A>T
c.22414A>T (p.Thr7472Ser)
c.22402A>T (p.Thr7468Ser)
c.22393A>T (p.Thr7465Ser)
c.22363A>T (p.Thr7455Ser)
c.22399A>T (p.Thr7467Ser)
c.22342A>T (p.Thr7448Ser)
c.22273A>T (p.Thr7425Ser)
c.22261A>T (p.Thr7421Ser)
c.22258A>T (p.Thr7420Ser)
c.22255A>T (p.Thr7419Ser)
c.22411A>T (p.Thr7471Ser)
c.22249A>T (p.Thr7417Ser)
c.20689A>T (p.Thr6897Ser)
c.20182A>T (p.Thr6728Ser)
c.15649A>T (p.Thr5217Ser)
c.22387A>T (p.Thr7463Ser)
c.22336A>T (p.Thr7446Ser)
6g.152213728T>CCA366099488SYNE1c.22378A>G (p.Thr7460Ala)
c.22165A>G (p.Thr7389Ala)
c.21163A>G (p.Thr7055Ala)
c.1144A>G (p.Thr382Ala)
n.6070A>G
c.316A>G (p.Thr106Ala)
n.5962A>G
c.22414A>G (p.Thr7472Ala)
c.22402A>G (p.Thr7468Ala)
c.22393A>G (p.Thr7465Ala)
c.22363A>G (p.Thr7455Ala)
c.22399A>G (p.Thr7467Ala)
c.22342A>G (p.Thr7448Ala)
c.22273A>G (p.Thr7425Ala)
c.22261A>G (p.Thr7421Ala)
c.22258A>G (p.Thr7420Ala)
c.22255A>G (p.Thr7419Ala)
c.22411A>G (p.Thr7471Ala)
c.22249A>G (p.Thr7417Ala)
c.20689A>G (p.Thr6897Ala)
c.20182A>G (p.Thr6728Ala)
c.15649A>G (p.Thr5217Ala)
c.22387A>G (p.Thr7463Ala)
c.22336A>G (p.Thr7446Ala)
 ClinVar
6g.152213728T>GCA366099490SYNE1c.22378A>C (p.Thr7460Pro)
c.22165A>C (p.Thr7389Pro)
c.21163A>C (p.Thr7055Pro)
c.1144A>C (p.Thr382Pro)
n.6070A>C
c.316A>C (p.Thr106Pro)
n.5962A>C
c.22414A>C (p.Thr7472Pro)
c.22402A>C (p.Thr7468Pro)
c.22393A>C (p.Thr7465Pro)
c.22363A>C (p.Thr7455Pro)
c.22399A>C (p.Thr7467Pro)
c.22342A>C (p.Thr7448Pro)
c.22273A>C (p.Thr7425Pro)
c.22261A>C (p.Thr7421Pro)
c.22258A>C (p.Thr7420Pro)
c.22255A>C (p.Thr7419Pro)
c.22411A>C (p.Thr7471Pro)
c.22249A>C (p.Thr7417Pro)
c.20689A>C (p.Thr6897Pro)
c.20182A>C (p.Thr6728Pro)
c.15649A>C (p.Thr5217Pro)
c.22387A>C (p.Thr7463Pro)
c.22336A>C (p.Thr7446Pro)
6g.152213729C>ACA366099493SYNE1c.22377G>T (p.Gln7459His)
c.22164G>T (p.Gln7388His)
c.21162G>T (p.Gln7054His)
c.1143G>T (p.Gln381His)
n.6069G>T
c.315G>T (p.Gln105His)
n.5961G>T
c.22413G>T (p.Gln7471His)
c.22401G>T (p.Gln7467His)
c.22392G>T (p.Gln7464His)
c.22362G>T (p.Gln7454His)
c.22398G>T (p.Gln7466His)
c.22341G>T (p.Gln7447His)
c.22272G>T (p.Gln7424His)
c.22260G>T (p.Gln7420His)
c.22257G>T (p.Gln7419His)
c.22254G>T (p.Gln7418His)
c.22410G>T (p.Gln7470His)
c.22248G>T (p.Gln7416His)
c.20688G>T (p.Gln6896His)
c.20181G>T (p.Gln6727His)
c.15648G>T (p.Gln5216His)
c.22386G>T (p.Gln7462His)
c.22335G>T (p.Gln7445His)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213729C=CA1673241129SYNE1c.22377G= (p.Gln7459=)
c.22164G= (p.Gln7388=)
c.21162G= (p.Gln7054=)
c.1143G= (p.Gln381=)
n.6069G=
c.315G= (p.Gln105=)
n.5961G=
c.22413G= (p.Gln7471=)
c.22401G= (p.Gln7467=)
c.22392G= (p.Gln7464=)
c.22362G= (p.Gln7454=)
c.22398G= (p.Gln7466=)
c.22341G= (p.Gln7447=)
c.22272G= (p.Gln7424=)
c.22260G= (p.Gln7420=)
c.22257G= (p.Gln7419=)
c.22254G= (p.Gln7418=)
c.22410G= (p.Gln7470=)
c.22248G= (p.Gln7416=)
c.20688G= (p.Gln6896=)
c.20181G= (p.Gln6727=)
c.15648G= (p.Gln5216=)
c.22386G= (p.Gln7462=)
c.22335G= (p.Gln7445=)
6g.152213729C>GCA366099494SYNE1c.22377G>C (p.Gln7459His)
c.22164G>C (p.Gln7388His)
c.21162G>C (p.Gln7054His)
c.1143G>C (p.Gln381His)
n.6069G>C
c.315G>C (p.Gln105His)
n.5961G>C
c.22413G>C (p.Gln7471His)
c.22401G>C (p.Gln7467His)
c.22392G>C (p.Gln7464His)
c.22362G>C (p.Gln7454His)
c.22398G>C (p.Gln7466His)
c.22341G>C (p.Gln7447His)
c.22272G>C (p.Gln7424His)
c.22260G>C (p.Gln7420His)
c.22257G>C (p.Gln7419His)
c.22254G>C (p.Gln7418His)
c.22410G>C (p.Gln7470His)
c.22248G>C (p.Gln7416His)
c.20688G>C (p.Gln6896His)
c.20181G>C (p.Gln6727His)
c.15648G>C (p.Gln5216His)
c.22386G>C (p.Gln7462His)
c.22335G>C (p.Gln7445His)
 gnomAD v4
6g.152213729C>TCA452748493SYNE1c.22377G>A (p.Gln7459=)
c.22164G>A (p.Gln7388=)
c.21162G>A (p.Gln7054=)
c.1143G>A (p.Gln381=)
n.6069G>A
c.315G>A (p.Gln105=)
n.5961G>A
c.22413G>A (p.Gln7471=)
c.22401G>A (p.Gln7467=)
c.22392G>A (p.Gln7464=)
c.22362G>A (p.Gln7454=)
c.22398G>A (p.Gln7466=)
c.22341G>A (p.Gln7447=)
c.22272G>A (p.Gln7424=)
c.22260G>A (p.Gln7420=)
c.22257G>A (p.Gln7419=)
c.22254G>A (p.Gln7418=)
c.22410G>A (p.Gln7470=)
c.22248G>A (p.Gln7416=)
c.20688G>A (p.Gln6896=)
c.20181G>A (p.Gln6727=)
c.15648G>A (p.Gln5216=)
c.22386G>A (p.Gln7462=)
c.22335G>A (p.Gln7445=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152213730T>ACA366099495SYNE1c.22376A>T (p.Gln7459Leu)
c.22163A>T (p.Gln7388Leu)
c.21161A>T (p.Gln7054Leu)
c.1142A>T (p.Gln381Leu)
n.6068A>T
c.314A>T (p.Gln105Leu)
n.5960A>T
c.22412A>T (p.Gln7471Leu)
c.22400A>T (p.Gln7467Leu)
c.22391A>T (p.Gln7464Leu)
c.22361A>T (p.Gln7454Leu)
c.22397A>T (p.Gln7466Leu)
c.22340A>T (p.Gln7447Leu)
c.22271A>T (p.Gln7424Leu)
c.22259A>T (p.Gln7420Leu)
c.22256A>T (p.Gln7419Leu)
c.22253A>T (p.Gln7418Leu)
c.22409A>T (p.Gln7470Leu)
c.22247A>T (p.Gln7416Leu)
c.20687A>T (p.Gln6896Leu)
c.20180A>T (p.Gln6727Leu)
c.15647A>T (p.Gln5216Leu)
c.22385A>T (p.Gln7462Leu)
c.22334A>T (p.Gln7445Leu)
6g.152213730T>CCA366099497SYNE1c.22376A>G (p.Gln7459Arg)
c.22163A>G (p.Gln7388Arg)
c.21161A>G (p.Gln7054Arg)
c.1142A>G (p.Gln381Arg)
n.6068A>G
c.314A>G (p.Gln105Arg)
n.5960A>G
c.22412A>G (p.Gln7471Arg)
c.22400A>G (p.Gln7467Arg)
c.22391A>G (p.Gln7464Arg)
c.22361A>G (p.Gln7454Arg)
c.22397A>G (p.Gln7466Arg)
c.22340A>G (p.Gln7447Arg)
c.22271A>G (p.Gln7424Arg)
c.22259A>G (p.Gln7420Arg)
c.22256A>G (p.Gln7419Arg)
c.22253A>G (p.Gln7418Arg)
c.22409A>G (p.Gln7470Arg)
c.22247A>G (p.Gln7416Arg)
c.20687A>G (p.Gln6896Arg)
c.20180A>G (p.Gln6727Arg)
c.15647A>G (p.Gln5216Arg)
c.22385A>G (p.Gln7462Arg)
c.22334A>G (p.Gln7445Arg)
6g.152213730T>GCA366099499SYNE1c.22376A>C (p.Gln7459Pro)
c.22163A>C (p.Gln7388Pro)
c.21161A>C (p.Gln7054Pro)
c.1142A>C (p.Gln381Pro)
n.6068A>C
c.314A>C (p.Gln105Pro)
n.5960A>C
c.22412A>C (p.Gln7471Pro)
c.22400A>C (p.Gln7467Pro)
c.22391A>C (p.Gln7464Pro)
c.22361A>C (p.Gln7454Pro)
c.22397A>C (p.Gln7466Pro)
c.22340A>C (p.Gln7447Pro)
c.22271A>C (p.Gln7424Pro)
c.22259A>C (p.Gln7420Pro)
c.22256A>C (p.Gln7419Pro)
c.22253A>C (p.Gln7418Pro)
c.22409A>C (p.Gln7470Pro)
c.22247A>C (p.Gln7416Pro)
c.20687A>C (p.Gln6896Pro)
c.20180A>C (p.Gln6727Pro)
c.15647A>C (p.Gln5216Pro)
c.22385A>C (p.Gln7462Pro)
c.22334A>C (p.Gln7445Pro)
 gnomAD v4
6g.152213731G>ACA366099501SYNE1c.22375C>T (p.Gln7459Ter)
c.22162C>T (p.Gln7388Ter)
c.21160C>T (p.Gln7054Ter)
c.1141C>T (p.Gln381Ter)
n.6067C>T
c.313C>T (p.Gln105Ter)
n.5959C>T
c.22411C>T (p.Gln7471Ter)
c.22399C>T (p.Gln7467Ter)
c.22390C>T (p.Gln7464Ter)
c.22360C>T (p.Gln7454Ter)
c.22396C>T (p.Gln7466Ter)
c.22339C>T (p.Gln7447Ter)
c.22270C>T (p.Gln7424Ter)
c.22258C>T (p.Gln7420Ter)
c.22255C>T (p.Gln7419Ter)
c.22252C>T (p.Gln7418Ter)
c.22408C>T (p.Gln7470Ter)
c.22246C>T (p.Gln7416Ter)
c.20686C>T (p.Gln6896Ter)
c.20179C>T (p.Gln6727Ter)
c.15646C>T (p.Gln5216Ter)
c.22384C>T (p.Gln7462Ter)
c.22333C>T (p.Gln7445Ter)
6g.152213731G>CCA366099503SYNE1c.22375C>G (p.Gln7459Glu)
c.22162C>G (p.Gln7388Glu)
c.21160C>G (p.Gln7054Glu)
c.1141C>G (p.Gln381Glu)
n.6067C>G
c.313C>G (p.Gln105Glu)
n.5959C>G
c.22411C>G (p.Gln7471Glu)
c.22399C>G (p.Gln7467Glu)
c.22390C>G (p.Gln7464Glu)
c.22360C>G (p.Gln7454Glu)
c.22396C>G (p.Gln7466Glu)
c.22339C>G (p.Gln7447Glu)
c.22270C>G (p.Gln7424Glu)
c.22258C>G (p.Gln7420Glu)
c.22255C>G (p.Gln7419Glu)
c.22252C>G (p.Gln7418Glu)
c.22408C>G (p.Gln7470Glu)
c.22246C>G (p.Gln7416Glu)
c.20686C>G (p.Gln6896Glu)
c.20179C>G (p.Gln6727Glu)
c.15646C>G (p.Gln5216Glu)
c.22384C>G (p.Gln7462Glu)
c.22333C>G (p.Gln7445Glu)
6g.152213731G>TCA366099506SYNE1c.22375C>A (p.Gln7459Lys)
c.22162C>A (p.Gln7388Lys)
c.21160C>A (p.Gln7054Lys)
c.1141C>A (p.Gln381Lys)
n.6067C>A
c.313C>A (p.Gln105Lys)
n.5959C>A
c.22411C>A (p.Gln7471Lys)
c.22399C>A (p.Gln7467Lys)
c.22390C>A (p.Gln7464Lys)
c.22360C>A (p.Gln7454Lys)
c.22396C>A (p.Gln7466Lys)
c.22339C>A (p.Gln7447Lys)
c.22270C>A (p.Gln7424Lys)
c.22258C>A (p.Gln7420Lys)
c.22255C>A (p.Gln7419Lys)
c.22252C>A (p.Gln7418Lys)
c.22408C>A (p.Gln7470Lys)
c.22246C>A (p.Gln7416Lys)
c.20686C>A (p.Gln6896Lys)
c.20179C>A (p.Gln6727Lys)
c.15646C>A (p.Gln5216Lys)
c.22384C>A (p.Gln7462Lys)
c.22333C>A (p.Gln7445Lys)
6g.152213732A>CCA366099510SYNE1c.22374T>G (p.His7458Gln)
c.22161T>G (p.His7387Gln)
c.21159T>G (p.His7053Gln)
c.1140T>G (p.His380Gln)
n.6066T>G
c.312T>G (p.His104Gln)
n.5958T>G
c.22410T>G (p.His7470Gln)
c.22398T>G (p.His7466Gln)
c.22389T>G (p.His7463Gln)
c.22359T>G (p.His7453Gln)
c.22395T>G (p.His7465Gln)
c.22338T>G (p.His7446Gln)
c.22269T>G (p.His7423Gln)
c.22257T>G (p.His7419Gln)
c.22254T>G (p.His7418Gln)
c.22251T>G (p.His7417Gln)
c.22407T>G (p.His7469Gln)
c.22245T>G (p.His7415Gln)
c.20685T>G (p.His6895Gln)
c.20178T>G (p.His6726Gln)
c.15645T>G (p.His5215Gln)
c.22383T>G (p.His7461Gln)
c.22332T>G (p.His7444Gln)
6g.152213732A>GCA452748494SYNE1c.22374T>C (p.His7458=)
c.22161T>C (p.His7387=)
c.21159T>C (p.His7053=)
c.1140T>C (p.His380=)
n.6066T>C
c.312T>C (p.His104=)
n.5958T>C
c.22410T>C (p.His7470=)
c.22398T>C (p.His7466=)
c.22389T>C (p.His7463=)
c.22359T>C (p.His7453=)
c.22395T>C (p.His7465=)
c.22338T>C (p.His7446=)
c.22269T>C (p.His7423=)
c.22257T>C (p.His7419=)
c.22254T>C (p.His7418=)
c.22251T>C (p.His7417=)
c.22407T>C (p.His7469=)
c.22245T>C (p.His7415=)
c.20685T>C (p.His6895=)
c.20178T>C (p.His6726=)
c.15645T>C (p.His5215=)
c.22383T>C (p.His7461=)
c.22332T>C (p.His7444=)
 gnomAD v4
6g.152213732A>TCA366099508SYNE1c.22374T>A (p.His7458Gln)
c.22161T>A (p.His7387Gln)
c.21159T>A (p.His7053Gln)
c.1140T>A (p.His380Gln)
n.6066T>A
c.312T>A (p.His104Gln)
n.5958T>A
c.22410T>A (p.His7470Gln)
c.22398T>A (p.His7466Gln)
c.22389T>A (p.His7463Gln)
c.22359T>A (p.His7453Gln)
c.22395T>A (p.His7465Gln)
c.22338T>A (p.His7446Gln)
c.22269T>A (p.His7423Gln)
c.22257T>A (p.His7419Gln)
c.22254T>A (p.His7418Gln)
c.22251T>A (p.His7417Gln)
c.22407T>A (p.His7469Gln)
c.22245T>A (p.His7415Gln)
c.20685T>A (p.His6895Gln)
c.20178T>A (p.His6726Gln)
c.15645T>A (p.His5215Gln)
c.22383T>A (p.His7461Gln)
c.22332T>A (p.His7444Gln)
6g.152213732_152213735delinsATGTCA1673241130SYNE1c.22371_22374delinsACAT (p.Gln7457=)
c.22158_22161delinsACAT (p.Gln7386=)
c.21156_21159delinsACAT (p.Gln7052=)
c.1137_1140delinsACAT (p.Gln379=)
n.6063_6066delinsACAT
c.309_312delinsACAT (p.Gln103=)
n.5955_5958delinsACAT
c.22407_22410delinsACAT (p.Gln7469=)
c.22395_22398delinsACAT (p.Gln7465=)
c.22386_22389delinsACAT (p.Gln7462=)
c.22356_22359delinsACAT (p.Gln7452=)
c.22392_22395delinsACAT (p.Gln7464=)
c.22335_22338delinsACAT (p.Gln7445=)
c.22266_22269delinsACAT (p.Gln7422=)
c.22254_22257delinsACAT (p.Gln7418=)
c.22251_22254delinsACAT (p.Gln7417=)
c.22248_22251delinsACAT (p.Gln7416=)
c.22404_22407delinsACAT (p.Gln7468=)
c.22242_22245delinsACAT (p.Gln7414=)
c.20682_20685delinsACAT (p.Gln6894=)
c.20175_20178delinsACAT (p.Gln6725=)
c.15642_15645delinsACAT (p.Gln5214=)
c.22380_22383delinsACAT (p.Gln7460=)
c.22329_22332delinsACAT (p.Gln7443=)
6g.152213733T>ACA366099511SYNE1c.22373A>T (p.His7458Leu)
c.22160A>T (p.His7387Leu)
c.21158A>T (p.His7053Leu)
c.1139A>T (p.His380Leu)
n.6065A>T
c.311A>T (p.His104Leu)
n.5957A>T
c.22409A>T (p.His7470Leu)
c.22397A>T (p.His7466Leu)
c.22388A>T (p.His7463Leu)
c.22358A>T (p.His7453Leu)
c.22394A>T (p.His7465Leu)
c.22337A>T (p.His7446Leu)
c.22268A>T (p.His7423Leu)
c.22256A>T (p.His7419Leu)
c.22253A>T (p.His7418Leu)
c.22250A>T (p.His7417Leu)
c.22406A>T (p.His7469Leu)
c.22244A>T (p.His7415Leu)
c.20684A>T (p.His6895Leu)
c.20177A>T (p.His6726Leu)
c.15644A>T (p.His5215Leu)
c.22382A>T (p.His7461Leu)
c.22331A>T (p.His7444Leu)
6g.152213733T>CCA366099512SYNE1c.22373A>G (p.His7458Arg)
c.22160A>G (p.His7387Arg)
c.21158A>G (p.His7053Arg)
c.1139A>G (p.His380Arg)
n.6065A>G
c.311A>G (p.His104Arg)
n.5957A>G
c.22409A>G (p.His7470Arg)
c.22397A>G (p.His7466Arg)
c.22388A>G (p.His7463Arg)
c.22358A>G (p.His7453Arg)
c.22394A>G (p.His7465Arg)
c.22337A>G (p.His7446Arg)
c.22268A>G (p.His7423Arg)
c.22256A>G (p.His7419Arg)
c.22253A>G (p.His7418Arg)
c.22250A>G (p.His7417Arg)
c.22406A>G (p.His7469Arg)
c.22244A>G (p.His7415Arg)
c.20684A>G (p.His6895Arg)
c.20177A>G (p.His6726Arg)
c.15644A>G (p.His5215Arg)
c.22382A>G (p.His7461Arg)
c.22331A>G (p.His7444Arg)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213733T>GCA366099514SYNE1c.22373A>C (p.His7458Pro)
c.22160A>C (p.His7387Pro)
c.21158A>C (p.His7053Pro)
c.1139A>C (p.His380Pro)
n.6065A>C
c.311A>C (p.His104Pro)
n.5957A>C
c.22409A>C (p.His7470Pro)
c.22397A>C (p.His7466Pro)
c.22388A>C (p.His7463Pro)
c.22358A>C (p.His7453Pro)
c.22394A>C (p.His7465Pro)
c.22337A>C (p.His7446Pro)
c.22268A>C (p.His7423Pro)
c.22256A>C (p.His7419Pro)
c.22253A>C (p.His7418Pro)
c.22250A>C (p.His7417Pro)
c.22406A>C (p.His7469Pro)
c.22244A>C (p.His7415Pro)
c.20684A>C (p.His6895Pro)
c.20177A>C (p.His6726Pro)
c.15644A>C (p.His5215Pro)
c.22382A>C (p.His7461Pro)
c.22331A>C (p.His7444Pro)
6g.152213733T=CA1673241131SYNE1c.22373A= (p.His7458=)
c.22160A= (p.His7387=)
c.21158A= (p.His7053=)
c.1139A= (p.His380=)
n.6065A=
c.311A= (p.His104=)
n.5957A=
c.22409A= (p.His7470=)
c.22397A= (p.His7466=)
c.22388A= (p.His7463=)
c.22358A= (p.His7453=)
c.22394A= (p.His7465=)
c.22337A= (p.His7446=)
c.22268A= (p.His7423=)
c.22256A= (p.His7419=)
c.22253A= (p.His7418=)
c.22250A= (p.His7417=)
c.22406A= (p.His7469=)
c.22244A= (p.His7415=)
c.20684A= (p.His6895=)
c.20177A= (p.His6726=)
c.15644A= (p.His5215=)
c.22382A= (p.His7461=)
c.22331A= (p.His7444=)
6g.152213736_152213738delCA571127162SYNE1c.22371_22373del (p.Gln7457del)
c.22158_22160del (p.Gln7386del)
c.21156_21158del (p.Gln7052del)
c.1137_1139del (p.Gln379del)
n.6063_6065del
c.309_311del (p.Gln103del)
n.5955_5957del
c.22407_22409del (p.Gln7469del)
c.22395_22397del (p.Gln7465del)
c.22386_22388del (p.Gln7462del)
c.22356_22358del (p.Gln7452del)
c.22392_22394del (p.Gln7464del)
c.22335_22337del (p.Gln7445del)
c.22266_22268del (p.Gln7422del)
c.22254_22256del (p.Gln7418del)
c.22251_22253del (p.Gln7417del)
c.22248_22250del (p.Gln7416del)
c.22404_22406del (p.Gln7468del)
c.22242_22244del (p.Gln7414del)
c.20682_20684del (p.Gln6894del)
c.20175_20177del (p.Gln6725del)
c.15642_15644del (p.Gln5214del)
c.22380_22382del (p.Gln7460del)
c.22329_22331del (p.Gln7443del)
 dbSNP gnomAD v2 gnomAD v4
6g.152213734G>ACA366099516SYNE1c.22372C>T (p.His7458Tyr)
c.22159C>T (p.His7387Tyr)
c.21157C>T (p.His7053Tyr)
c.1138C>T (p.His380Tyr)
n.6064C>T
c.310C>T (p.His104Tyr)
n.5956C>T
c.22408C>T (p.His7470Tyr)
c.22396C>T (p.His7466Tyr)
c.22387C>T (p.His7463Tyr)
c.22357C>T (p.His7453Tyr)
c.22393C>T (p.His7465Tyr)
c.22336C>T (p.His7446Tyr)
c.22267C>T (p.His7423Tyr)
c.22255C>T (p.His7419Tyr)
c.22252C>T (p.His7418Tyr)
c.22249C>T (p.His7417Tyr)
c.22405C>T (p.His7469Tyr)
c.22243C>T (p.His7415Tyr)
c.20683C>T (p.His6895Tyr)
c.20176C>T (p.His6726Tyr)
c.15643C>T (p.His5215Tyr)
c.22381C>T (p.His7461Tyr)
c.22330C>T (p.His7444Tyr)
6g.152213734G>CCA366099518SYNE1c.22372C>G (p.His7458Asp)
c.22159C>G (p.His7387Asp)
c.21157C>G (p.His7053Asp)
c.1138C>G (p.His380Asp)
n.6064C>G
c.310C>G (p.His104Asp)
n.5956C>G
c.22408C>G (p.His7470Asp)
c.22396C>G (p.His7466Asp)
c.22387C>G (p.His7463Asp)
c.22357C>G (p.His7453Asp)
c.22393C>G (p.His7465Asp)
c.22336C>G (p.His7446Asp)
c.22267C>G (p.His7423Asp)
c.22255C>G (p.His7419Asp)
c.22252C>G (p.His7418Asp)
c.22249C>G (p.His7417Asp)
c.22405C>G (p.His7469Asp)
c.22243C>G (p.His7415Asp)
c.20683C>G (p.His6895Asp)
c.20176C>G (p.His6726Asp)
c.15643C>G (p.His5215Asp)
c.22381C>G (p.His7461Asp)
c.22330C>G (p.His7444Asp)
6g.152213734G>TCA366099520SYNE1c.22372C>A (p.His7458Asn)
c.22159C>A (p.His7387Asn)
c.21157C>A (p.His7053Asn)
c.1138C>A (p.His380Asn)
n.6064C>A
c.310C>A (p.His104Asn)
n.5956C>A
c.22408C>A (p.His7470Asn)
c.22396C>A (p.His7466Asn)
c.22387C>A (p.His7463Asn)
c.22357C>A (p.His7453Asn)
c.22393C>A (p.His7465Asn)
c.22336C>A (p.His7446Asn)
c.22267C>A (p.His7423Asn)
c.22255C>A (p.His7419Asn)
c.22252C>A (p.His7418Asn)
c.22249C>A (p.His7417Asn)
c.22405C>A (p.His7469Asn)
c.22243C>A (p.His7415Asn)
c.20683C>A (p.His6895Asn)
c.20176C>A (p.His6726Asn)
c.15643C>A (p.His5215Asn)
c.22381C>A (p.His7461Asn)
c.22330C>A (p.His7444Asn)
6g.152213735T>ACA366099522SYNE1c.22371A>T (p.Gln7457His)
c.22158A>T (p.Gln7386His)
c.21156A>T (p.Gln7052His)
c.1137A>T (p.Gln379His)
n.6063A>T
c.309A>T (p.Gln103His)
n.5955A>T
c.22407A>T (p.Gln7469His)
c.22395A>T (p.Gln7465His)
c.22386A>T (p.Gln7462His)
c.22356A>T (p.Gln7452His)
c.22392A>T (p.Gln7464His)
c.22335A>T (p.Gln7445His)
c.22266A>T (p.Gln7422His)
c.22254A>T (p.Gln7418His)
c.22251A>T (p.Gln7417His)
c.22248A>T (p.Gln7416His)
c.22404A>T (p.Gln7468His)
c.22242A>T (p.Gln7414His)
c.20682A>T (p.Gln6894His)
c.20175A>T (p.Gln6725His)
c.15642A>T (p.Gln5214His)
c.22380A>T (p.Gln7460His)
c.22329A>T (p.Gln7443His)
6g.152213735T>CCA452748495SYNE1c.22371A>G (p.Gln7457=)
c.22158A>G (p.Gln7386=)
c.21156A>G (p.Gln7052=)
c.1137A>G (p.Gln379=)
n.6063A>G
c.309A>G (p.Gln103=)
n.5955A>G
c.22407A>G (p.Gln7469=)
c.22395A>G (p.Gln7465=)
c.22386A>G (p.Gln7462=)
c.22356A>G (p.Gln7452=)
c.22392A>G (p.Gln7464=)
c.22335A>G (p.Gln7445=)
c.22266A>G (p.Gln7422=)
c.22254A>G (p.Gln7418=)
c.22251A>G (p.Gln7417=)
c.22248A>G (p.Gln7416=)
c.22404A>G (p.Gln7468=)
c.22242A>G (p.Gln7414=)
c.20682A>G (p.Gln6894=)
c.20175A>G (p.Gln6725=)
c.15642A>G (p.Gln5214=)
c.22380A>G (p.Gln7460=)
c.22329A>G (p.Gln7443=)
 dbSNP
6g.152213735T>GCA366099524SYNE1c.22371A>C (p.Gln7457His)
c.22158A>C (p.Gln7386His)
c.21156A>C (p.Gln7052His)
c.1137A>C (p.Gln379His)
n.6063A>C
c.309A>C (p.Gln103His)
n.5955A>C
c.22407A>C (p.Gln7469His)
c.22395A>C (p.Gln7465His)
c.22386A>C (p.Gln7462His)
c.22356A>C (p.Gln7452His)
c.22392A>C (p.Gln7464His)
c.22335A>C (p.Gln7445His)
c.22266A>C (p.Gln7422His)
c.22254A>C (p.Gln7418His)
c.22251A>C (p.Gln7417His)
c.22248A>C (p.Gln7416His)
c.22404A>C (p.Gln7468His)
c.22242A>C (p.Gln7414His)
c.20682A>C (p.Gln6894His)
c.20175A>C (p.Gln6725His)
c.15642A>C (p.Gln5214His)
c.22380A>C (p.Gln7460His)
c.22329A>C (p.Gln7443His)
6g.152213735T=CA1673241132SYNE1c.22371A= (p.Gln7457=)
c.22158A= (p.Gln7386=)
c.21156A= (p.Gln7052=)
c.1137A= (p.Gln379=)
n.6063A=
c.309A= (p.Gln103=)
n.5955A=
c.22407A= (p.Gln7469=)
c.22395A= (p.Gln7465=)
c.22386A= (p.Gln7462=)
c.22356A= (p.Gln7452=)
c.22392A= (p.Gln7464=)
c.22335A= (p.Gln7445=)
c.22266A= (p.Gln7422=)
c.22254A= (p.Gln7418=)
c.22251A= (p.Gln7417=)
c.22248A= (p.Gln7416=)
c.22404A= (p.Gln7468=)
c.22242A= (p.Gln7414=)
c.20682A= (p.Gln6894=)
c.20175A= (p.Gln6725=)
c.15642A= (p.Gln5214=)
c.22380A= (p.Gln7460=)
c.22329A= (p.Gln7443=)
6g.152213736T>ACA366099525SYNE1c.22370A>T (p.Gln7457Leu)
c.22157A>T (p.Gln7386Leu)
c.21155A>T (p.Gln7052Leu)
c.1136A>T (p.Gln379Leu)
n.6062A>T
c.308A>T (p.Gln103Leu)
n.5954A>T
c.22406A>T (p.Gln7469Leu)
c.22394A>T (p.Gln7465Leu)
c.22385A>T (p.Gln7462Leu)
c.22355A>T (p.Gln7452Leu)
c.22391A>T (p.Gln7464Leu)
c.22334A>T (p.Gln7445Leu)
c.22265A>T (p.Gln7422Leu)
c.22253A>T (p.Gln7418Leu)
c.22250A>T (p.Gln7417Leu)
c.22247A>T (p.Gln7416Leu)
c.22403A>T (p.Gln7468Leu)
c.22241A>T (p.Gln7414Leu)
c.20681A>T (p.Gln6894Leu)
c.20174A>T (p.Gln6725Leu)
c.15641A>T (p.Gln5214Leu)
c.22379A>T (p.Gln7460Leu)
c.22328A>T (p.Gln7443Leu)
6g.152213736T>CCA366099527SYNE1c.22370A>G (p.Gln7457Arg)
c.22157A>G (p.Gln7386Arg)
c.21155A>G (p.Gln7052Arg)
c.1136A>G (p.Gln379Arg)
n.6062A>G
c.308A>G (p.Gln103Arg)
n.5954A>G
c.22406A>G (p.Gln7469Arg)
c.22394A>G (p.Gln7465Arg)
c.22385A>G (p.Gln7462Arg)
c.22355A>G (p.Gln7452Arg)
c.22391A>G (p.Gln7464Arg)
c.22334A>G (p.Gln7445Arg)
c.22265A>G (p.Gln7422Arg)
c.22253A>G (p.Gln7418Arg)
c.22250A>G (p.Gln7417Arg)
c.22247A>G (p.Gln7416Arg)
c.22403A>G (p.Gln7468Arg)
c.22241A>G (p.Gln7414Arg)
c.20681A>G (p.Gln6894Arg)
c.20174A>G (p.Gln6725Arg)
c.15641A>G (p.Gln5214Arg)
c.22379A>G (p.Gln7460Arg)
c.22328A>G (p.Gln7443Arg)
6g.152213736T>GCA4053888SYNE1c.22370A>C (p.Gln7457Pro)
c.22157A>C (p.Gln7386Pro)
c.21155A>C (p.Gln7052Pro)
c.1136A>C (p.Gln379Pro)
n.6062A>C
c.308A>C (p.Gln103Pro)
n.5954A>C
c.22406A>C (p.Gln7469Pro)
c.22394A>C (p.Gln7465Pro)
c.22385A>C (p.Gln7462Pro)
c.22355A>C (p.Gln7452Pro)
c.22391A>C (p.Gln7464Pro)
c.22334A>C (p.Gln7445Pro)
c.22265A>C (p.Gln7422Pro)
c.22253A>C (p.Gln7418Pro)
c.22250A>C (p.Gln7417Pro)
c.22247A>C (p.Gln7416Pro)
c.22403A>C (p.Gln7468Pro)
c.22241A>C (p.Gln7414Pro)
c.20681A>C (p.Gln6894Pro)
c.20174A>C (p.Gln6725Pro)
c.15641A>C (p.Gln5214Pro)
c.22379A>C (p.Gln7460Pro)
c.22328A>C (p.Gln7443Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213736T=CA1673241133SYNE1c.22370A= (p.Gln7457=)
c.22157A= (p.Gln7386=)
c.21155A= (p.Gln7052=)
c.1136A= (p.Gln379=)
n.6062A=
c.308A= (p.Gln103=)
n.5954A=
c.22406A= (p.Gln7469=)
c.22394A= (p.Gln7465=)
c.22385A= (p.Gln7462=)
c.22355A= (p.Gln7452=)
c.22391A= (p.Gln7464=)
c.22334A= (p.Gln7445=)
c.22265A= (p.Gln7422=)
c.22253A= (p.Gln7418=)
c.22250A= (p.Gln7417=)
c.22247A= (p.Gln7416=)
c.22403A= (p.Gln7468=)
c.22241A= (p.Gln7414=)
c.20681A= (p.Gln6894=)
c.20174A= (p.Gln6725=)
c.15641A= (p.Gln5214=)
c.22379A= (p.Gln7460=)
c.22328A= (p.Gln7443=)
6g.152213737G>ACA252222SYNE1c.22369C>T (p.Gln7457Ter)
c.22156C>T (p.Gln7386Ter)
c.21154C>T (p.Gln7052Ter)
c.1135C>T (p.Gln379Ter)
n.6061C>T
c.307C>T (p.Gln103Ter)
n.5953C>T
c.22405C>T (p.Gln7469Ter)
c.22393C>T (p.Gln7465Ter)
c.22384C>T (p.Gln7462Ter)
c.22354C>T (p.Gln7452Ter)
c.22390C>T (p.Gln7464Ter)
c.22333C>T (p.Gln7445Ter)
c.22264C>T (p.Gln7422Ter)
c.22252C>T (p.Gln7418Ter)
c.22249C>T (p.Gln7417Ter)
c.22246C>T (p.Gln7416Ter)
c.22402C>T (p.Gln7468Ter)
c.22240C>T (p.Gln7414Ter)
c.20680C>T (p.Gln6894Ter)
c.20173C>T (p.Gln6725Ter)
c.15640C>T (p.Gln5214Ter)
c.22378C>T (p.Gln7460Ter)
c.22327C>T (p.Gln7443Ter)
 ClinVar dbSNP
6g.152213737G>CCA366099533SYNE1c.22369C>G (p.Gln7457Glu)
c.22156C>G (p.Gln7386Glu)
c.21154C>G (p.Gln7052Glu)
c.1135C>G (p.Gln379Glu)
n.6061C>G
c.307C>G (p.Gln103Glu)
n.5953C>G
c.22405C>G (p.Gln7469Glu)
c.22393C>G (p.Gln7465Glu)
c.22384C>G (p.Gln7462Glu)
c.22354C>G (p.Gln7452Glu)
c.22390C>G (p.Gln7464Glu)
c.22333C>G (p.Gln7445Glu)
c.22264C>G (p.Gln7422Glu)
c.22252C>G (p.Gln7418Glu)
c.22249C>G (p.Gln7417Glu)
c.22246C>G (p.Gln7416Glu)
c.22402C>G (p.Gln7468Glu)
c.22240C>G (p.Gln7414Glu)
c.20680C>G (p.Gln6894Glu)
c.20173C>G (p.Gln6725Glu)
c.15640C>G (p.Gln5214Glu)
c.22378C>G (p.Gln7460Glu)
c.22327C>G (p.Gln7443Glu)
6g.152213737G=CA1673241134SYNE1c.22369C= (p.Gln7457=)
c.22156C= (p.Gln7386=)
c.21154C= (p.Gln7052=)
c.1135C= (p.Gln379=)
n.6061C=
c.307C= (p.Gln103=)
n.5953C=
c.22405C= (p.Gln7469=)
c.22393C= (p.Gln7465=)
c.22384C= (p.Gln7462=)
c.22354C= (p.Gln7452=)
c.22390C= (p.Gln7464=)
c.22333C= (p.Gln7445=)
c.22264C= (p.Gln7422=)
c.22252C= (p.Gln7418=)
c.22249C= (p.Gln7417=)
c.22246C= (p.Gln7416=)
c.22402C= (p.Gln7468=)
c.22240C= (p.Gln7414=)
c.20680C= (p.Gln6894=)
c.20173C= (p.Gln6725=)
c.15640C= (p.Gln5214=)
c.22378C= (p.Gln7460=)
c.22327C= (p.Gln7443=)
6g.152213737G>TCA366099531SYNE1c.22369C>A (p.Gln7457Lys)
c.22156C>A (p.Gln7386Lys)
c.21154C>A (p.Gln7052Lys)
c.1135C>A (p.Gln379Lys)
n.6061C>A
c.307C>A (p.Gln103Lys)
n.5953C>A
c.22405C>A (p.Gln7469Lys)
c.22393C>A (p.Gln7465Lys)
c.22384C>A (p.Gln7462Lys)
c.22354C>A (p.Gln7452Lys)
c.22390C>A (p.Gln7464Lys)
c.22333C>A (p.Gln7445Lys)
c.22264C>A (p.Gln7422Lys)
c.22252C>A (p.Gln7418Lys)
c.22249C>A (p.Gln7417Lys)
c.22246C>A (p.Gln7416Lys)
c.22402C>A (p.Gln7468Lys)
c.22240C>A (p.Gln7414Lys)
c.20680C>A (p.Gln6894Lys)
c.20173C>A (p.Gln6725Lys)
c.15640C>A (p.Gln5214Lys)
c.22378C>A (p.Gln7460Lys)
c.22327C>A (p.Gln7443Lys)
6g.152213738T>ACA452748496SYNE1c.22368A>T (p.Leu7456=)
c.22155A>T (p.Leu7385=)
c.21153A>T (p.Leu7051=)
c.1134A>T (p.Leu378=)
n.6060A>T
c.306A>T (p.Leu102=)
n.5952A>T
c.22404A>T (p.Leu7468=)
c.22392A>T (p.Leu7464=)
c.22383A>T (p.Leu7461=)
c.22353A>T (p.Leu7451=)
c.22389A>T (p.Leu7463=)
c.22332A>T (p.Leu7444=)
c.22263A>T (p.Leu7421=)
c.22251A>T (p.Leu7417=)
c.22248A>T (p.Leu7416=)
c.22245A>T (p.Leu7415=)
c.22401A>T (p.Leu7467=)
c.22239A>T (p.Leu7413=)
c.20679A>T (p.Leu6893=)
c.20172A>T (p.Leu6724=)
c.15639A>T (p.Leu5213=)
c.22377A>T (p.Leu7459=)
c.22326A>T (p.Leu7442=)
6g.152213738T>CCA4053889SYNE1c.22368A>G (p.Leu7456=)
c.22155A>G (p.Leu7385=)
c.21153A>G (p.Leu7051=)
c.1134A>G (p.Leu378=)
n.6060A>G
c.306A>G (p.Leu102=)
n.5952A>G
c.22404A>G (p.Leu7468=)
c.22392A>G (p.Leu7464=)
c.22383A>G (p.Leu7461=)
c.22353A>G (p.Leu7451=)
c.22389A>G (p.Leu7463=)
c.22332A>G (p.Leu7444=)
c.22263A>G (p.Leu7421=)
c.22251A>G (p.Leu7417=)
c.22248A>G (p.Leu7416=)
c.22245A>G (p.Leu7415=)
c.22401A>G (p.Leu7467=)
c.22239A>G (p.Leu7413=)
c.20679A>G (p.Leu6893=)
c.20172A>G (p.Leu6724=)
c.15639A>G (p.Leu5213=)
c.22377A>G (p.Leu7459=)
c.22326A>G (p.Leu7442=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152213738T>GCA452748497SYNE1c.22368A>C (p.Leu7456=)
c.22155A>C (p.Leu7385=)
c.21153A>C (p.Leu7051=)
c.1134A>C (p.Leu378=)
n.6060A>C
c.306A>C (p.Leu102=)
n.5952A>C
c.22404A>C (p.Leu7468=)
c.22392A>C (p.Leu7464=)
c.22383A>C (p.Leu7461=)
c.22353A>C (p.Leu7451=)
c.22389A>C (p.Leu7463=)
c.22332A>C (p.Leu7444=)
c.22263A>C (p.Leu7421=)
c.22251A>C (p.Leu7417=)
c.22248A>C (p.Leu7416=)
c.22245A>C (p.Leu7415=)
c.22401A>C (p.Leu7467=)
c.22239A>C (p.Leu7413=)
c.20679A>C (p.Leu6893=)
c.20172A>C (p.Leu6724=)
c.15639A>C (p.Leu5213=)
c.22377A>C (p.Leu7459=)
c.22326A>C (p.Leu7442=)
6g.152213738T=CA1673241135SYNE1c.22368A= (p.Leu7456=)
c.22155A= (p.Leu7385=)
c.21153A= (p.Leu7051=)
c.1134A= (p.Leu378=)
n.6060A=
c.306A= (p.Leu102=)
n.5952A=
c.22404A= (p.Leu7468=)
c.22392A= (p.Leu7464=)
c.22383A= (p.Leu7461=)
c.22353A= (p.Leu7451=)
c.22389A= (p.Leu7463=)
c.22332A= (p.Leu7444=)
c.22263A= (p.Leu7421=)
c.22251A= (p.Leu7417=)
c.22248A= (p.Leu7416=)
c.22245A= (p.Leu7415=)
c.22401A= (p.Leu7467=)
c.22239A= (p.Leu7413=)
c.20679A= (p.Leu6893=)
c.20172A= (p.Leu6724=)
c.15639A= (p.Leu5213=)
c.22377A= (p.Leu7459=)
c.22326A= (p.Leu7442=)
6g.152213739A>CCA366099537SYNE1c.22367T>G (p.Leu7456Arg)
c.22154T>G (p.Leu7385Arg)
c.21152T>G (p.Leu7051Arg)
c.1133T>G (p.Leu378Arg)
n.6059T>G
c.305T>G (p.Leu102Arg)
n.5951T>G
c.22403T>G (p.Leu7468Arg)
c.22391T>G (p.Leu7464Arg)
c.22382T>G (p.Leu7461Arg)
c.22352T>G (p.Leu7451Arg)
c.22388T>G (p.Leu7463Arg)
c.22331T>G (p.Leu7444Arg)
c.22262T>G (p.Leu7421Arg)
c.22250T>G (p.Leu7417Arg)
c.22247T>G (p.Leu7416Arg)
c.22244T>G (p.Leu7415Arg)
c.22400T>G (p.Leu7467Arg)
c.22238T>G (p.Leu7413Arg)
c.20678T>G (p.Leu6893Arg)
c.20171T>G (p.Leu6724Arg)
c.15638T>G (p.Leu5213Arg)
c.22376T>G (p.Leu7459Arg)
c.22325T>G (p.Leu7442Arg)
6g.152213739A>GCA366099538SYNE1c.22367T>C (p.Leu7456Pro)
c.22154T>C (p.Leu7385Pro)
c.21152T>C (p.Leu7051Pro)
c.1133T>C (p.Leu378Pro)
n.6059T>C
c.305T>C (p.Leu102Pro)
n.5951T>C
c.22403T>C (p.Leu7468Pro)
c.22391T>C (p.Leu7464Pro)
c.22382T>C (p.Leu7461Pro)
c.22352T>C (p.Leu7451Pro)
c.22388T>C (p.Leu7463Pro)
c.22331T>C (p.Leu7444Pro)
c.22262T>C (p.Leu7421Pro)
c.22250T>C (p.Leu7417Pro)
c.22247T>C (p.Leu7416Pro)
c.22244T>C (p.Leu7415Pro)
c.22400T>C (p.Leu7467Pro)
c.22238T>C (p.Leu7413Pro)
c.20678T>C (p.Leu6893Pro)
c.20171T>C (p.Leu6724Pro)
c.15638T>C (p.Leu5213Pro)
c.22376T>C (p.Leu7459Pro)
c.22325T>C (p.Leu7442Pro)
6g.152213739A>TCA366099539SYNE1c.22367T>A (p.Leu7456Gln)
c.22154T>A (p.Leu7385Gln)
c.21152T>A (p.Leu7051Gln)
c.1133T>A (p.Leu378Gln)
n.6059T>A
c.305T>A (p.Leu102Gln)
n.5951T>A
c.22403T>A (p.Leu7468Gln)
c.22391T>A (p.Leu7464Gln)
c.22382T>A (p.Leu7461Gln)
c.22352T>A (p.Leu7451Gln)
c.22388T>A (p.Leu7463Gln)
c.22331T>A (p.Leu7444Gln)
c.22262T>A (p.Leu7421Gln)
c.22250T>A (p.Leu7417Gln)
c.22247T>A (p.Leu7416Gln)
c.22244T>A (p.Leu7415Gln)
c.22400T>A (p.Leu7467Gln)
c.22238T>A (p.Leu7413Gln)
c.20678T>A (p.Leu6893Gln)
c.20171T>A (p.Leu6724Gln)
c.15638T>A (p.Leu5213Gln)
c.22376T>A (p.Leu7459Gln)
c.22325T>A (p.Leu7442Gln)
6g.152213740G>ACA452748498SYNE1c.22366C>T (p.Leu7456=)
c.22153C>T (p.Leu7385=)
c.21151C>T (p.Leu7051=)
c.1132C>T (p.Leu378=)
n.6058C>T
c.304C>T (p.Leu102=)
n.5950C>T
c.22402C>T (p.Leu7468=)
c.22390C>T (p.Leu7464=)
c.22381C>T (p.Leu7461=)
c.22351C>T (p.Leu7451=)
c.22387C>T (p.Leu7463=)
c.22330C>T (p.Leu7444=)
c.22261C>T (p.Leu7421=)
c.22249C>T (p.Leu7417=)
c.22246C>T (p.Leu7416=)
c.22243C>T (p.Leu7415=)
c.22399C>T (p.Leu7467=)
c.22237C>T (p.Leu7413=)
c.20677C>T (p.Leu6893=)
c.20170C>T (p.Leu6724=)
c.15637C>T (p.Leu5213=)
c.22375C>T (p.Leu7459=)
c.22324C>T (p.Leu7442=)
6g.152213740G>CCA366099541SYNE1c.22366C>G (p.Leu7456Val)
c.22153C>G (p.Leu7385Val)
c.21151C>G (p.Leu7051Val)
c.1132C>G (p.Leu378Val)
n.6058C>G
c.304C>G (p.Leu102Val)
n.5950C>G
c.22402C>G (p.Leu7468Val)
c.22390C>G (p.Leu7464Val)
c.22381C>G (p.Leu7461Val)
c.22351C>G (p.Leu7451Val)
c.22387C>G (p.Leu7463Val)
c.22330C>G (p.Leu7444Val)
c.22261C>G (p.Leu7421Val)
c.22249C>G (p.Leu7417Val)
c.22246C>G (p.Leu7416Val)
c.22243C>G (p.Leu7415Val)
c.22399C>G (p.Leu7467Val)
c.22237C>G (p.Leu7413Val)
c.20677C>G (p.Leu6893Val)
c.20170C>G (p.Leu6724Val)
c.15637C>G (p.Leu5213Val)
c.22375C>G (p.Leu7459Val)
c.22324C>G (p.Leu7442Val)
6g.152213740G>TCA366099543SYNE1c.22366C>A (p.Leu7456Ile)
c.22153C>A (p.Leu7385Ile)
c.21151C>A (p.Leu7051Ile)
c.1132C>A (p.Leu378Ile)
n.6058C>A
c.304C>A (p.Leu102Ile)
n.5950C>A
c.22402C>A (p.Leu7468Ile)
c.22390C>A (p.Leu7464Ile)
c.22381C>A (p.Leu7461Ile)
c.22351C>A (p.Leu7451Ile)
c.22387C>A (p.Leu7463Ile)
c.22330C>A (p.Leu7444Ile)
c.22261C>A (p.Leu7421Ile)
c.22249C>A (p.Leu7417Ile)
c.22246C>A (p.Leu7416Ile)
c.22243C>A (p.Leu7415Ile)
c.22399C>A (p.Leu7467Ile)
c.22237C>A (p.Leu7413Ile)
c.20677C>A (p.Leu6893Ile)
c.20170C>A (p.Leu6724Ile)
c.15637C>A (p.Leu5213Ile)
c.22375C>A (p.Leu7459Ile)
c.22324C>A (p.Leu7442Ile)
6g.152213741C>ACA366099545SYNE1c.22365G>T (p.Leu7455Phe)
c.22152G>T (p.Leu7384Phe)
c.21150G>T (p.Leu7050Phe)
c.1131G>T (p.Leu377Phe)
n.6057G>T
c.303G>T (p.Leu101Phe)
n.5949G>T
c.22401G>T (p.Leu7467Phe)
c.22389G>T (p.Leu7463Phe)
c.22380G>T (p.Leu7460Phe)
c.22350G>T (p.Leu7450Phe)
c.22386G>T (p.Leu7462Phe)
c.22329G>T (p.Leu7443Phe)
c.22260G>T (p.Leu7420Phe)
c.22248G>T (p.Leu7416Phe)
c.22245G>T (p.Leu7415Phe)
c.22242G>T (p.Leu7414Phe)
c.22398G>T (p.Leu7466Phe)
c.22236G>T (p.Leu7412Phe)
c.20676G>T (p.Leu6892Phe)
c.20169G>T (p.Leu6723Phe)
c.15636G>T (p.Leu5212Phe)
c.22374G>T (p.Leu7458Phe)
c.22323G>T (p.Leu7441Phe)
6g.152213741C=CA1673241136SYNE1c.22365G= (p.Leu7455=)
c.22152G= (p.Leu7384=)
c.21150G= (p.Leu7050=)
c.1131G= (p.Leu377=)
n.6057G=
c.303G= (p.Leu101=)
n.5949G=
c.22401G= (p.Leu7467=)
c.22389G= (p.Leu7463=)
c.22380G= (p.Leu7460=)
c.22350G= (p.Leu7450=)
c.22386G= (p.Leu7462=)
c.22329G= (p.Leu7443=)
c.22260G= (p.Leu7420=)
c.22248G= (p.Leu7416=)
c.22245G= (p.Leu7415=)
c.22242G= (p.Leu7414=)
c.22398G= (p.Leu7466=)
c.22236G= (p.Leu7412=)
c.20676G= (p.Leu6892=)
c.20169G= (p.Leu6723=)
c.15636G= (p.Leu5212=)
c.22374G= (p.Leu7458=)
c.22323G= (p.Leu7441=)
6g.152213741C>GCA366099547SYNE1c.22365G>C (p.Leu7455Phe)
c.22152G>C (p.Leu7384Phe)
c.21150G>C (p.Leu7050Phe)
c.1131G>C (p.Leu377Phe)
n.6057G>C
c.303G>C (p.Leu101Phe)
n.5949G>C
c.22401G>C (p.Leu7467Phe)
c.22389G>C (p.Leu7463Phe)
c.22380G>C (p.Leu7460Phe)
c.22350G>C (p.Leu7450Phe)
c.22386G>C (p.Leu7462Phe)
c.22329G>C (p.Leu7443Phe)
c.22260G>C (p.Leu7420Phe)
c.22248G>C (p.Leu7416Phe)
c.22245G>C (p.Leu7415Phe)
c.22242G>C (p.Leu7414Phe)
c.22398G>C (p.Leu7466Phe)
c.22236G>C (p.Leu7412Phe)
c.20676G>C (p.Leu6892Phe)
c.20169G>C (p.Leu6723Phe)
c.15636G>C (p.Leu5212Phe)
c.22374G>C (p.Leu7458Phe)
c.22323G>C (p.Leu7441Phe)
 dbSNP
6g.152213741C>TCA452748499SYNE1c.22365G>A (p.Leu7455=)
c.22152G>A (p.Leu7384=)
c.21150G>A (p.Leu7050=)
c.1131G>A (p.Leu377=)
n.6057G>A
c.303G>A (p.Leu101=)
n.5949G>A
c.22401G>A (p.Leu7467=)
c.22389G>A (p.Leu7463=)
c.22380G>A (p.Leu7460=)
c.22350G>A (p.Leu7450=)
c.22386G>A (p.Leu7462=)
c.22329G>A (p.Leu7443=)
c.22260G>A (p.Leu7420=)
c.22248G>A (p.Leu7416=)
c.22245G>A (p.Leu7415=)
c.22242G>A (p.Leu7414=)
c.22398G>A (p.Leu7466=)
c.22236G>A (p.Leu7412=)
c.20676G>A (p.Leu6892=)
c.20169G>A (p.Leu6723=)
c.15636G>A (p.Leu5212=)
c.22374G>A (p.Leu7458=)
c.22323G>A (p.Leu7441=)
6g.152213742A>CCA366099549SYNE1c.22364T>G (p.Leu7455Trp)
c.22151T>G (p.Leu7384Trp)
c.21149T>G (p.Leu7050Trp)
c.1130T>G (p.Leu377Trp)
n.6056T>G
c.302T>G (p.Leu101Trp)
n.5948T>G
c.22400T>G (p.Leu7467Trp)
c.22388T>G (p.Leu7463Trp)
c.22379T>G (p.Leu7460Trp)
c.22349T>G (p.Leu7450Trp)
c.22385T>G (p.Leu7462Trp)
c.22328T>G (p.Leu7443Trp)
c.22259T>G (p.Leu7420Trp)
c.22247T>G (p.Leu7416Trp)
c.22244T>G (p.Leu7415Trp)
c.22241T>G (p.Leu7414Trp)
c.22397T>G (p.Leu7466Trp)
c.22235T>G (p.Leu7412Trp)
c.20675T>G (p.Leu6892Trp)
c.20168T>G (p.Leu6723Trp)
c.15635T>G (p.Leu5212Trp)
c.22373T>G (p.Leu7458Trp)
c.22322T>G (p.Leu7441Trp)
6g.152213742A>GCA366099550SYNE1c.22364T>C (p.Leu7455Ser)
c.22151T>C (p.Leu7384Ser)
c.21149T>C (p.Leu7050Ser)
c.1130T>C (p.Leu377Ser)
n.6056T>C
c.302T>C (p.Leu101Ser)
n.5948T>C
c.22400T>C (p.Leu7467Ser)
c.22388T>C (p.Leu7463Ser)
c.22379T>C (p.Leu7460Ser)
c.22349T>C (p.Leu7450Ser)
c.22385T>C (p.Leu7462Ser)
c.22328T>C (p.Leu7443Ser)
c.22259T>C (p.Leu7420Ser)
c.22247T>C (p.Leu7416Ser)
c.22244T>C (p.Leu7415Ser)
c.22241T>C (p.Leu7414Ser)
c.22397T>C (p.Leu7466Ser)
c.22235T>C (p.Leu7412Ser)
c.20675T>C (p.Leu6892Ser)
c.20168T>C (p.Leu6723Ser)
c.15635T>C (p.Leu5212Ser)
c.22373T>C (p.Leu7458Ser)
c.22322T>C (p.Leu7441Ser)
6g.152213742A>TCA366099552SYNE1c.22364T>A (p.Leu7455Ter)
c.22151T>A (p.Leu7384Ter)
c.21149T>A (p.Leu7050Ter)
c.1130T>A (p.Leu377Ter)
n.6056T>A
c.302T>A (p.Leu101Ter)
n.5948T>A
c.22400T>A (p.Leu7467Ter)
c.22388T>A (p.Leu7463Ter)
c.22379T>A (p.Leu7460Ter)
c.22349T>A (p.Leu7450Ter)
c.22385T>A (p.Leu7462Ter)
c.22328T>A (p.Leu7443Ter)
c.22259T>A (p.Leu7420Ter)
c.22247T>A (p.Leu7416Ter)
c.22244T>A (p.Leu7415Ter)
c.22241T>A (p.Leu7414Ter)
c.22397T>A (p.Leu7466Ter)
c.22235T>A (p.Leu7412Ter)
c.20675T>A (p.Leu6892Ter)
c.20168T>A (p.Leu6723Ter)
c.15635T>A (p.Leu5212Ter)
c.22373T>A (p.Leu7458Ter)
c.22322T>A (p.Leu7441Ter)
6g.152213746delCA2578773611SYNE1c.22364del (p.Leu7455CysfsTer18)
c.22151del (p.Leu7384CysfsTer18)
c.21149del (p.Leu7050CysfsTer18)
c.1130del (p.Leu377CysfsTer18)
n.6056del
c.302del (p.Leu101CysfsTer18)
n.5948del
c.22400del (p.Leu7467CysfsTer18)
c.22388del (p.Leu7463CysfsTer18)
c.22379del (p.Leu7460CysfsTer18)
c.22349del (p.Leu7450CysfsTer18)
c.22385del (p.Leu7462CysfsTer18)
c.22328del (p.Leu7443CysfsTer18)
c.22259del (p.Leu7420CysfsTer18)
c.22247del (p.Leu7416CysfsTer18)
c.22244del (p.Leu7415CysfsTer18)
c.22241del (p.Leu7414CysfsTer18)
c.22397del (p.Leu7466CysfsTer18)
c.22235del (p.Leu7412CysfsTer18)
c.20675del (p.Leu6892CysfsTer18)
c.20168del (p.Leu6723CysfsTer18)
c.15635del (p.Leu5212CysfsTer18)
c.22373del (p.Leu7458CysfsTer18)
c.22322del (p.Leu7441CysfsTer18)
6g.152213743A>CCA366099554SYNE1c.22363T>G (p.Leu7455Val)
c.22150T>G (p.Leu7384Val)
c.21148T>G (p.Leu7050Val)
c.1129T>G (p.Leu377Val)
n.6055T>G
c.301T>G (p.Leu101Val)
n.5947T>G
c.22399T>G (p.Leu7467Val)
c.22387T>G (p.Leu7463Val)
c.22378T>G (p.Leu7460Val)
c.22348T>G (p.Leu7450Val)
c.22384T>G (p.Leu7462Val)
c.22327T>G (p.Leu7443Val)
c.22258T>G (p.Leu7420Val)
c.22246T>G (p.Leu7416Val)
c.22243T>G (p.Leu7415Val)
c.22240T>G (p.Leu7414Val)
c.22396T>G (p.Leu7466Val)
c.22234T>G (p.Leu7412Val)
c.20674T>G (p.Leu6892Val)
c.20167T>G (p.Leu6723Val)
c.15634T>G (p.Leu5212Val)
c.22372T>G (p.Leu7458Val)
c.22321T>G (p.Leu7441Val)
6g.152213743A>GCA452748500SYNE1c.22363T>C (p.Leu7455=)
c.22150T>C (p.Leu7384=)
c.21148T>C (p.Leu7050=)
c.1129T>C (p.Leu377=)
n.6055T>C
c.301T>C (p.Leu101=)
n.5947T>C
c.22399T>C (p.Leu7467=)
c.22387T>C (p.Leu7463=)
c.22378T>C (p.Leu7460=)
c.22348T>C (p.Leu7450=)
c.22384T>C (p.Leu7462=)
c.22327T>C (p.Leu7443=)
c.22258T>C (p.Leu7420=)
c.22246T>C (p.Leu7416=)
c.22243T>C (p.Leu7415=)
c.22240T>C (p.Leu7414=)
c.22396T>C (p.Leu7466=)
c.22234T>C (p.Leu7412=)
c.20674T>C (p.Leu6892=)
c.20167T>C (p.Leu6723=)
c.15634T>C (p.Leu5212=)
c.22372T>C (p.Leu7458=)
c.22321T>C (p.Leu7441=)
6g.152213743A>TCA366099555SYNE1c.22363T>A (p.Leu7455Met)
c.22150T>A (p.Leu7384Met)
c.21148T>A (p.Leu7050Met)
c.1129T>A (p.Leu377Met)
n.6055T>A
c.301T>A (p.Leu101Met)
n.5947T>A
c.22399T>A (p.Leu7467Met)
c.22387T>A (p.Leu7463Met)
c.22378T>A (p.Leu7460Met)
c.22348T>A (p.Leu7450Met)
c.22384T>A (p.Leu7462Met)
c.22327T>A (p.Leu7443Met)
c.22258T>A (p.Leu7420Met)
c.22246T>A (p.Leu7416Met)
c.22243T>A (p.Leu7415Met)
c.22240T>A (p.Leu7414Met)
c.22396T>A (p.Leu7466Met)
c.22234T>A (p.Leu7412Met)
c.20674T>A (p.Leu6892Met)
c.20167T>A (p.Leu6723Met)
c.15634T>A (p.Leu5212Met)
c.22372T>A (p.Leu7458Met)
c.22321T>A (p.Leu7441Met)
6g.152213744A=CA1673241137SYNE1c.22362T= (p.Phe7454=)
c.22149T= (p.Phe7383=)
c.21147T= (p.Phe7049=)
c.1128T= (p.Phe376=)
n.6054T=
c.300T= (p.Phe100=)
n.5946T=
c.22398T= (p.Phe7466=)
c.22386T= (p.Phe7462=)
c.22377T= (p.Phe7459=)
c.22347T= (p.Phe7449=)
c.22383T= (p.Phe7461=)
c.22326T= (p.Phe7442=)
c.22257T= (p.Phe7419=)
c.22245T= (p.Phe7415=)
c.22242T= (p.Phe7414=)
c.22239T= (p.Phe7413=)
c.22395T= (p.Phe7465=)
c.22233T= (p.Phe7411=)
c.20673T= (p.Phe6891=)
c.20166T= (p.Phe6722=)
c.15633T= (p.Phe5211=)
c.22371T= (p.Phe7457=)
c.22320T= (p.Phe7440=)
6g.152213744A>CCA366099557SYNE1c.22362T>G (p.Phe7454Leu)
c.22149T>G (p.Phe7383Leu)
c.21147T>G (p.Phe7049Leu)
c.1128T>G (p.Phe376Leu)
n.6054T>G
c.300T>G (p.Phe100Leu)
n.5946T>G
c.22398T>G (p.Phe7466Leu)
c.22386T>G (p.Phe7462Leu)
c.22377T>G (p.Phe7459Leu)
c.22347T>G (p.Phe7449Leu)
c.22383T>G (p.Phe7461Leu)
c.22326T>G (p.Phe7442Leu)
c.22257T>G (p.Phe7419Leu)
c.22245T>G (p.Phe7415Leu)
c.22242T>G (p.Phe7414Leu)
c.22239T>G (p.Phe7413Leu)
c.22395T>G (p.Phe7465Leu)
c.22233T>G (p.Phe7411Leu)
c.20673T>G (p.Phe6891Leu)
c.20166T>G (p.Phe6722Leu)
c.15633T>G (p.Phe5211Leu)
c.22371T>G (p.Phe7457Leu)
c.22320T>G (p.Phe7440Leu)
6g.152213744A>GCA4053890SYNE1c.22362T>C (p.Phe7454=)
c.22149T>C (p.Phe7383=)
c.21147T>C (p.Phe7049=)
c.1128T>C (p.Phe376=)
n.6054T>C
c.300T>C (p.Phe100=)
n.5946T>C
c.22398T>C (p.Phe7466=)
c.22386T>C (p.Phe7462=)
c.22377T>C (p.Phe7459=)
c.22347T>C (p.Phe7449=)
c.22383T>C (p.Phe7461=)
c.22326T>C (p.Phe7442=)
c.22257T>C (p.Phe7419=)
c.22245T>C (p.Phe7415=)
c.22242T>C (p.Phe7414=)
c.22239T>C (p.Phe7413=)
c.22395T>C (p.Phe7465=)
c.22233T>C (p.Phe7411=)
c.20673T>C (p.Phe6891=)
c.20166T>C (p.Phe6722=)
c.15633T>C (p.Phe5211=)
c.22371T>C (p.Phe7457=)
c.22320T>C (p.Phe7440=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213744A>TCA4053891SYNE1c.22362T>A (p.Phe7454Leu)
c.22149T>A (p.Phe7383Leu)
c.21147T>A (p.Phe7049Leu)
c.1128T>A (p.Phe376Leu)
n.6054T>A
c.300T>A (p.Phe100Leu)
n.5946T>A
c.22398T>A (p.Phe7466Leu)
c.22386T>A (p.Phe7462Leu)
c.22377T>A (p.Phe7459Leu)
c.22347T>A (p.Phe7449Leu)
c.22383T>A (p.Phe7461Leu)
c.22326T>A (p.Phe7442Leu)
c.22257T>A (p.Phe7419Leu)
c.22245T>A (p.Phe7415Leu)
c.22242T>A (p.Phe7414Leu)
c.22239T>A (p.Phe7413Leu)
c.22395T>A (p.Phe7465Leu)
c.22233T>A (p.Phe7411Leu)
c.20673T>A (p.Phe6891Leu)
c.20166T>A (p.Phe6722Leu)
c.15633T>A (p.Phe5211Leu)
c.22371T>A (p.Phe7457Leu)
c.22320T>A (p.Phe7440Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152213745A>CCA366099560SYNE1c.22361T>G (p.Phe7454Cys)
c.22148T>G (p.Phe7383Cys)
c.21146T>G (p.Phe7049Cys)
c.1127T>G (p.Phe376Cys)
n.6053T>G
c.299T>G (p.Phe100Cys)
n.5945T>G
c.22397T>G (p.Phe7466Cys)
c.22385T>G (p.Phe7462Cys)
c.22376T>G (p.Phe7459Cys)
c.22346T>G (p.Phe7449Cys)
c.22382T>G (p.Phe7461Cys)
c.22325T>G (p.Phe7442Cys)
c.22256T>G (p.Phe7419Cys)
c.22244T>G (p.Phe7415Cys)
c.22241T>G (p.Phe7414Cys)
c.22238T>G (p.Phe7413Cys)
c.22394T>G (p.Phe7465Cys)
c.22232T>G (p.Phe7411Cys)
c.20672T>G (p.Phe6891Cys)
c.20165T>G (p.Phe6722Cys)
c.15632T>G (p.Phe5211Cys)
c.22370T>G (p.Phe7457Cys)
c.22319T>G (p.Phe7440Cys)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152213745A>GCA366099561SYNE1c.22361T>C (p.Phe7454Ser)
c.22148T>C (p.Phe7383Ser)
c.21146T>C (p.Phe7049Ser)
c.1127T>C (p.Phe376Ser)
n.6053T>C
c.299T>C (p.Phe100Ser)
n.5945T>C
c.22397T>C (p.Phe7466Ser)
c.22385T>C (p.Phe7462Ser)
c.22376T>C (p.Phe7459Ser)
c.22346T>C (p.Phe7449Ser)
c.22382T>C (p.Phe7461Ser)
c.22325T>C (p.Phe7442Ser)
c.22256T>C (p.Phe7419Ser)
c.22244T>C (p.Phe7415Ser)
c.22241T>C (p.Phe7414Ser)
c.22238T>C (p.Phe7413Ser)
c.22394T>C (p.Phe7465Ser)
c.22232T>C (p.Phe7411Ser)
c.20672T>C (p.Phe6891Ser)
c.20165T>C (p.Phe6722Ser)
c.15632T>C (p.Phe5211Ser)
c.22370T>C (p.Phe7457Ser)
c.22319T>C (p.Phe7440Ser)
6g.152213745A>TCA366099562SYNE1c.22361T>A (p.Phe7454Tyr)
c.22148T>A (p.Phe7383Tyr)
c.21146T>A (p.Phe7049Tyr)
c.1127T>A (p.Phe376Tyr)
n.6053T>A
c.299T>A (p.Phe100Tyr)
n.5945T>A
c.22397T>A (p.Phe7466Tyr)
c.22385T>A (p.Phe7462Tyr)
c.22376T>A (p.Phe7459Tyr)
c.22346T>A (p.Phe7449Tyr)
c.22382T>A (p.Phe7461Tyr)
c.22325T>A (p.Phe7442Tyr)
c.22256T>A (p.Phe7419Tyr)
c.22244T>A (p.Phe7415Tyr)
c.22241T>A (p.Phe7414Tyr)
c.22238T>A (p.Phe7413Tyr)
c.22394T>A (p.Phe7465Tyr)
c.22232T>A (p.Phe7411Tyr)
c.20672T>A (p.Phe6891Tyr)
c.20165T>A (p.Phe6722Tyr)
c.15632T>A (p.Phe5211Tyr)
c.22370T>A (p.Phe7457Tyr)
c.22319T>A (p.Phe7440Tyr)
6g.152213746A>CCA366099564SYNE1c.22360T>G (p.Phe7454Val)
c.22147T>G (p.Phe7383Val)
c.21145T>G (p.Phe7049Val)
c.1126T>G (p.Phe376Val)
n.6052T>G
c.298T>G (p.Phe100Val)
n.5944T>G
c.22396T>G (p.Phe7466Val)
c.22384T>G (p.Phe7462Val)
c.22375T>G (p.Phe7459Val)
c.22345T>G (p.Phe7449Val)
c.22381T>G (p.Phe7461Val)
c.22324T>G (p.Phe7442Val)
c.22255T>G (p.Phe7419Val)
c.22243T>G (p.Phe7415Val)
c.22240T>G (p.Phe7414Val)
c.22237T>G (p.Phe7413Val)
c.22393T>G (p.Phe7465Val)
c.22231T>G (p.Phe7411Val)
c.20671T>G (p.Phe6891Val)
c.20164T>G (p.Phe6722Val)
c.15631T>G (p.Phe5211Val)
c.22369T>G (p.Phe7457Val)
c.22318T>G (p.Phe7440Val)
6g.152213746A>GCA366099566SYNE1c.22360T>C (p.Phe7454Leu)
c.22147T>C (p.Phe7383Leu)
c.21145T>C (p.Phe7049Leu)
c.1126T>C (p.Phe376Leu)
n.6052T>C
c.298T>C (p.Phe100Leu)
n.5944T>C
c.22396T>C (p.Phe7466Leu)
c.22384T>C (p.Phe7462Leu)
c.22375T>C (p.Phe7459Leu)
c.22345T>C (p.Phe7449Leu)
c.22381T>C (p.Phe7461Leu)
c.22324T>C (p.Phe7442Leu)
c.22255T>C (p.Phe7419Leu)
c.22243T>C (p.Phe7415Leu)
c.22240T>C (p.Phe7414Leu)
c.22237T>C (p.Phe7413Leu)
c.22393T>C (p.Phe7465Leu)
c.22231T>C (p.Phe7411Leu)
c.20671T>C (p.Phe6891Leu)
c.20164T>C (p.Phe6722Leu)
c.15631T>C (p.Phe5211Leu)
c.22369T>C (p.Phe7457Leu)
c.22318T>C (p.Phe7440Leu)
 gnomAD v4
6g.152213746A>TCA366099568SYNE1c.22360T>A (p.Phe7454Ile)
c.22147T>A (p.Phe7383Ile)
c.21145T>A (p.Phe7049Ile)
c.1126T>A (p.Phe376Ile)
n.6052T>A
c.298T>A (p.Phe100Ile)
n.5944T>A
c.22396T>A (p.Phe7466Ile)
c.22384T>A (p.Phe7462Ile)
c.22375T>A (p.Phe7459Ile)
c.22345T>A (p.Phe7449Ile)
c.22381T>A (p.Phe7461Ile)
c.22324T>A (p.Phe7442Ile)
c.22255T>A (p.Phe7419Ile)
c.22243T>A (p.Phe7415Ile)
c.22240T>A (p.Phe7414Ile)
c.22237T>A (p.Phe7413Ile)
c.22393T>A (p.Phe7465Ile)
c.22231T>A (p.Phe7411Ile)
c.20671T>A (p.Phe6891Ile)
c.20164T>A (p.Phe6722Ile)
c.15631T>A (p.Phe5211Ile)
c.22369T>A (p.Phe7457Ile)
c.22318T>A (p.Phe7440Ile)

Number of alleles fetched