| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152141207C>A | CA452747054 | SYNE1 | c.1776G>T (p.Thr592=) c.25242G>T (p.Thr8414=) c.25098G>T (p.Thr8366=) c.644G>T c.977G>T c.891-1046G>T c.1014G>T (p.Thr338=) c.24027G>T (p.Thr8009=) n.1990G>T c.4077G>T (p.Thr1359=) n.8934G>T c.3180G>T (p.Thr1060=) n.8826G>T n.1856G>T n.4264G>T n.2079G>T c.1707G>T (p.Thr569=) c.25347G>T (p.Thr8449=) c.25335G>T (p.Thr8445=) c.25326G>T (p.Thr8442=) c.25296G>T (p.Thr8432=) c.25332G>T (p.Thr8444=) c.25278G>T (p.Thr8426=) c.25275G>T (p.Thr8425=) c.25263G>T (p.Thr8421=) c.25206G>T (p.Thr8402=) c.25194G>T (p.Thr8398=) c.25191G>T (p.Thr8397=) c.25188G>T (p.Thr8396=) c.25344G>T (p.Thr8448=) c.25182G>T (p.Thr8394=) c.23622G>T (p.Thr7874=) c.23115G>T (p.Thr7705=) c.18582G>T (p.Thr6194=) c.1848G>T (p.Thr616=) c.25320G>T (p.Thr8440=) c.25269G>T (p.Thr8423=) c.25122G>T (p.Thr8374=) | |
| 6 | g.152141207C= | CA1673207561 | SYNE1 | c.1776G= (p.Thr592=) c.25242G= (p.Thr8414=) c.25098G= (p.Thr8366=) c.644G= c.977G= c.891-1046G= c.1014G= (p.Thr338=) c.24027G= (p.Thr8009=) n.1990G= c.4077G= (p.Thr1359=) n.8934G= c.3180G= (p.Thr1060=) n.8826G= n.1856G= n.4264G= n.2079G= c.1707G= (p.Thr569=) c.25347G= (p.Thr8449=) c.25335G= (p.Thr8445=) c.25326G= (p.Thr8442=) c.25296G= (p.Thr8432=) c.25332G= (p.Thr8444=) c.25278G= (p.Thr8426=) c.25275G= (p.Thr8425=) c.25263G= (p.Thr8421=) c.25206G= (p.Thr8402=) c.25194G= (p.Thr8398=) c.25191G= (p.Thr8397=) c.25188G= (p.Thr8396=) c.25344G= (p.Thr8448=) c.25182G= (p.Thr8394=) c.23622G= (p.Thr7874=) c.23115G= (p.Thr7705=) c.18582G= (p.Thr6194=) c.1848G= (p.Thr616=) c.25320G= (p.Thr8440=) c.25269G= (p.Thr8423=) c.25122G= (p.Thr8374=) | |
| 6 | g.152141207C>G | CA452747055 | SYNE1 | c.1776G>C (p.Thr592=) c.25242G>C (p.Thr8414=) c.25098G>C (p.Thr8366=) c.644G>C c.977G>C c.891-1046G>C c.1014G>C (p.Thr338=) c.24027G>C (p.Thr8009=) n.1990G>C c.4077G>C (p.Thr1359=) n.8934G>C c.3180G>C (p.Thr1060=) n.8826G>C n.1856G>C n.4264G>C n.2079G>C c.1707G>C (p.Thr569=) c.25347G>C (p.Thr8449=) c.25335G>C (p.Thr8445=) c.25326G>C (p.Thr8442=) c.25296G>C (p.Thr8432=) c.25332G>C (p.Thr8444=) c.25278G>C (p.Thr8426=) c.25275G>C (p.Thr8425=) c.25263G>C (p.Thr8421=) c.25206G>C (p.Thr8402=) c.25194G>C (p.Thr8398=) c.25191G>C (p.Thr8397=) c.25188G>C (p.Thr8396=) c.25344G>C (p.Thr8448=) c.25182G>C (p.Thr8394=) c.23622G>C (p.Thr7874=) c.23115G>C (p.Thr7705=) c.18582G>C (p.Thr6194=) c.1848G>C (p.Thr616=) c.25320G>C (p.Thr8440=) c.25269G>C (p.Thr8423=) c.25122G>C (p.Thr8374=) | |
| 6 | g.152141207C>T | CA4052891 | SYNE1 | c.1776G>A (p.Thr592=) c.25242G>A (p.Thr8414=) c.25098G>A (p.Thr8366=) c.644G>A c.977G>A c.891-1046G>A c.1014G>A (p.Thr338=) c.24027G>A (p.Thr8009=) n.1990G>A c.4077G>A (p.Thr1359=) n.8934G>A c.3180G>A (p.Thr1060=) n.8826G>A n.1856G>A n.4264G>A n.2079G>A c.1707G>A (p.Thr569=) c.25347G>A (p.Thr8449=) c.25335G>A (p.Thr8445=) c.25326G>A (p.Thr8442=) c.25296G>A (p.Thr8432=) c.25332G>A (p.Thr8444=) c.25278G>A (p.Thr8426=) c.25275G>A (p.Thr8425=) c.25263G>A (p.Thr8421=) c.25206G>A (p.Thr8402=) c.25194G>A (p.Thr8398=) c.25191G>A (p.Thr8397=) c.25188G>A (p.Thr8396=) c.25344G>A (p.Thr8448=) c.25182G>A (p.Thr8394=) c.23622G>A (p.Thr7874=) c.23115G>A (p.Thr7705=) c.18582G>A (p.Thr6194=) c.1848G>A (p.Thr616=) c.25320G>A (p.Thr8440=) c.25269G>A (p.Thr8423=) c.25122G>A (p.Thr8374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141208G>A | CA4052892 | SYNE1 | c.1775C>T (p.Thr592Met) c.25241C>T (p.Thr8414Met) c.25097C>T (p.Thr8366Met) c.643C>T c.976C>T c.891-1047C>T c.1013C>T (p.Thr338Met) c.24026C>T (p.Thr8009Met) n.1989C>T c.4076C>T (p.Thr1359Met) n.8933C>T c.3179C>T (p.Thr1060Met) n.8825C>T n.1855C>T n.4263C>T n.2078C>T c.1706C>T (p.Thr569Met) c.25346C>T (p.Thr8449Met) c.25334C>T (p.Thr8445Met) c.25325C>T (p.Thr8442Met) c.25295C>T (p.Thr8432Met) c.25331C>T (p.Thr8444Met) c.25277C>T (p.Thr8426Met) c.25274C>T (p.Thr8425Met) c.25262C>T (p.Thr8421Met) c.25205C>T (p.Thr8402Met) c.25193C>T (p.Thr8398Met) c.25190C>T (p.Thr8397Met) c.25187C>T (p.Thr8396Met) c.25343C>T (p.Thr8448Met) c.25181C>T (p.Thr8394Met) c.23621C>T (p.Thr7874Met) c.23114C>T (p.Thr7705Met) c.18581C>T (p.Thr6194Met) c.1847C>T (p.Thr616Met) c.25319C>T (p.Thr8440Met) c.25268C>T (p.Thr8423Met) c.25121C>T (p.Thr8374Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141208G>C | CA366081227 | SYNE1 | c.1775C>G (p.Thr592Arg) c.25241C>G (p.Thr8414Arg) c.25097C>G (p.Thr8366Arg) c.643C>G c.976C>G c.891-1047C>G c.1013C>G (p.Thr338Arg) c.24026C>G (p.Thr8009Arg) n.1989C>G c.4076C>G (p.Thr1359Arg) n.8933C>G c.3179C>G (p.Thr1060Arg) n.8825C>G n.1855C>G n.4263C>G n.2078C>G c.1706C>G (p.Thr569Arg) c.25346C>G (p.Thr8449Arg) c.25334C>G (p.Thr8445Arg) c.25325C>G (p.Thr8442Arg) c.25295C>G (p.Thr8432Arg) c.25331C>G (p.Thr8444Arg) c.25277C>G (p.Thr8426Arg) c.25274C>G (p.Thr8425Arg) c.25262C>G (p.Thr8421Arg) c.25205C>G (p.Thr8402Arg) c.25193C>G (p.Thr8398Arg) c.25190C>G (p.Thr8397Arg) c.25187C>G (p.Thr8396Arg) c.25343C>G (p.Thr8448Arg) c.25181C>G (p.Thr8394Arg) c.23621C>G (p.Thr7874Arg) c.23114C>G (p.Thr7705Arg) c.18581C>G (p.Thr6194Arg) c.1847C>G (p.Thr616Arg) c.25319C>G (p.Thr8440Arg) c.25268C>G (p.Thr8423Arg) c.25121C>G (p.Thr8374Arg) | |
| 6 | g.152141208G= | CA1673207567 | SYNE1 | c.1775C= (p.Thr592=) c.25241C= (p.Thr8414=) c.25097C= (p.Thr8366=) c.643C= c.976C= c.891-1047C= c.1013C= (p.Thr338=) c.24026C= (p.Thr8009=) n.1989C= c.4076C= (p.Thr1359=) n.8933C= c.3179C= (p.Thr1060=) n.8825C= n.1855C= n.4263C= n.2078C= c.1706C= (p.Thr569=) c.25346C= (p.Thr8449=) c.25334C= (p.Thr8445=) c.25325C= (p.Thr8442=) c.25295C= (p.Thr8432=) c.25331C= (p.Thr8444=) c.25277C= (p.Thr8426=) c.25274C= (p.Thr8425=) c.25262C= (p.Thr8421=) c.25205C= (p.Thr8402=) c.25193C= (p.Thr8398=) c.25190C= (p.Thr8397=) c.25187C= (p.Thr8396=) c.25343C= (p.Thr8448=) c.25181C= (p.Thr8394=) c.23621C= (p.Thr7874=) c.23114C= (p.Thr7705=) c.18581C= (p.Thr6194=) c.1847C= (p.Thr616=) c.25319C= (p.Thr8440=) c.25268C= (p.Thr8423=) c.25121C= (p.Thr8374=) | |
| 6 | g.152141208G>T | CA366081229 | SYNE1 | c.1775C>A (p.Thr592Lys) c.25241C>A (p.Thr8414Lys) c.25097C>A (p.Thr8366Lys) c.643C>A c.976C>A c.891-1047C>A c.1013C>A (p.Thr338Lys) c.24026C>A (p.Thr8009Lys) n.1989C>A c.4076C>A (p.Thr1359Lys) n.8933C>A c.3179C>A (p.Thr1060Lys) n.8825C>A n.1855C>A n.4263C>A n.2078C>A c.1706C>A (p.Thr569Lys) c.25346C>A (p.Thr8449Lys) c.25334C>A (p.Thr8445Lys) c.25325C>A (p.Thr8442Lys) c.25295C>A (p.Thr8432Lys) c.25331C>A (p.Thr8444Lys) c.25277C>A (p.Thr8426Lys) c.25274C>A (p.Thr8425Lys) c.25262C>A (p.Thr8421Lys) c.25205C>A (p.Thr8402Lys) c.25193C>A (p.Thr8398Lys) c.25190C>A (p.Thr8397Lys) c.25187C>A (p.Thr8396Lys) c.25343C>A (p.Thr8448Lys) c.25181C>A (p.Thr8394Lys) c.23621C>A (p.Thr7874Lys) c.23114C>A (p.Thr7705Lys) c.18581C>A (p.Thr6194Lys) c.1847C>A (p.Thr616Lys) c.25319C>A (p.Thr8440Lys) c.25268C>A (p.Thr8423Lys) c.25121C>A (p.Thr8374Lys) | gnomAD v4 |
| 6 | g.152141209T>A | CA366081233 | SYNE1 | c.1774A>T (p.Thr592Ser) c.25240A>T (p.Thr8414Ser) c.25096A>T (p.Thr8366Ser) c.642A>T c.975A>T c.891-1048A>T c.1012A>T (p.Thr338Ser) c.24025A>T (p.Thr8009Ser) n.1988A>T c.4075A>T (p.Thr1359Ser) n.8932A>T c.3178A>T (p.Thr1060Ser) n.8824A>T n.1854A>T n.4262A>T n.2077A>T c.1705A>T (p.Thr569Ser) c.25345A>T (p.Thr8449Ser) c.25333A>T (p.Thr8445Ser) c.25324A>T (p.Thr8442Ser) c.25294A>T (p.Thr8432Ser) c.25330A>T (p.Thr8444Ser) c.25276A>T (p.Thr8426Ser) c.25273A>T (p.Thr8425Ser) c.25261A>T (p.Thr8421Ser) c.25204A>T (p.Thr8402Ser) c.25192A>T (p.Thr8398Ser) c.25189A>T (p.Thr8397Ser) c.25186A>T (p.Thr8396Ser) c.25342A>T (p.Thr8448Ser) c.25180A>T (p.Thr8394Ser) c.23620A>T (p.Thr7874Ser) c.23113A>T (p.Thr7705Ser) c.18580A>T (p.Thr6194Ser) c.1846A>T (p.Thr616Ser) c.25318A>T (p.Thr8440Ser) c.25267A>T (p.Thr8423Ser) c.25120A>T (p.Thr8374Ser) | |
| 6 | g.152141209T>C | CA366081235 | SYNE1 | c.1774A>G (p.Thr592Ala) c.25240A>G (p.Thr8414Ala) c.25096A>G (p.Thr8366Ala) c.642A>G c.975A>G c.891-1048A>G c.1012A>G (p.Thr338Ala) c.24025A>G (p.Thr8009Ala) n.1988A>G c.4075A>G (p.Thr1359Ala) n.8932A>G c.3178A>G (p.Thr1060Ala) n.8824A>G n.1854A>G n.4262A>G n.2077A>G c.1705A>G (p.Thr569Ala) c.25345A>G (p.Thr8449Ala) c.25333A>G (p.Thr8445Ala) c.25324A>G (p.Thr8442Ala) c.25294A>G (p.Thr8432Ala) c.25330A>G (p.Thr8444Ala) c.25276A>G (p.Thr8426Ala) c.25273A>G (p.Thr8425Ala) c.25261A>G (p.Thr8421Ala) c.25204A>G (p.Thr8402Ala) c.25192A>G (p.Thr8398Ala) c.25189A>G (p.Thr8397Ala) c.25186A>G (p.Thr8396Ala) c.25342A>G (p.Thr8448Ala) c.25180A>G (p.Thr8394Ala) c.23620A>G (p.Thr7874Ala) c.23113A>G (p.Thr7705Ala) c.18580A>G (p.Thr6194Ala) c.1846A>G (p.Thr616Ala) c.25318A>G (p.Thr8440Ala) c.25267A>G (p.Thr8423Ala) c.25120A>G (p.Thr8374Ala) | |
| 6 | g.152141209T>G | CA366081236 | SYNE1 | c.1774A>C (p.Thr592Pro) c.25240A>C (p.Thr8414Pro) c.25096A>C (p.Thr8366Pro) c.642A>C c.975A>C c.891-1048A>C c.1012A>C (p.Thr338Pro) c.24025A>C (p.Thr8009Pro) n.1988A>C c.4075A>C (p.Thr1359Pro) n.8932A>C c.3178A>C (p.Thr1060Pro) n.8824A>C n.1854A>C n.4262A>C n.2077A>C c.1705A>C (p.Thr569Pro) c.25345A>C (p.Thr8449Pro) c.25333A>C (p.Thr8445Pro) c.25324A>C (p.Thr8442Pro) c.25294A>C (p.Thr8432Pro) c.25330A>C (p.Thr8444Pro) c.25276A>C (p.Thr8426Pro) c.25273A>C (p.Thr8425Pro) c.25261A>C (p.Thr8421Pro) c.25204A>C (p.Thr8402Pro) c.25192A>C (p.Thr8398Pro) c.25189A>C (p.Thr8397Pro) c.25186A>C (p.Thr8396Pro) c.25342A>C (p.Thr8448Pro) c.25180A>C (p.Thr8394Pro) c.23620A>C (p.Thr7874Pro) c.23113A>C (p.Thr7705Pro) c.18580A>C (p.Thr6194Pro) c.1846A>C (p.Thr616Pro) c.25318A>C (p.Thr8440Pro) c.25267A>C (p.Thr8423Pro) c.25120A>C (p.Thr8374Pro) | |
| 6 | g.152141210T>A | CA366081239 | SYNE1 | c.1773A>T (p.Gln591His) c.25239A>T (p.Gln8413His) c.25095A>T (p.Gln8365His) c.641A>T c.974A>T c.891-1049A>T c.1011A>T (p.Gln337His) c.24024A>T (p.Gln8008His) n.1987A>T c.4074A>T (p.Gln1358His) n.8931A>T c.3177A>T (p.Gln1059His) n.8823A>T n.1853A>T n.4261A>T n.2076A>T c.1704A>T (p.Gln568His) c.25344A>T (p.Gln8448His) c.25332A>T (p.Gln8444His) c.25323A>T (p.Gln8441His) c.25293A>T (p.Gln8431His) c.25329A>T (p.Gln8443His) c.25275A>T (p.Gln8425His) c.25272A>T (p.Gln8424His) c.25260A>T (p.Gln8420His) c.25203A>T (p.Gln8401His) c.25191A>T (p.Gln8397His) c.25188A>T (p.Gln8396His) c.25185A>T (p.Gln8395His) c.25341A>T (p.Gln8447His) c.25179A>T (p.Gln8393His) c.23619A>T (p.Gln7873His) c.23112A>T (p.Gln7704His) c.18579A>T (p.Gln6193His) c.1845A>T (p.Gln615His) c.25317A>T (p.Gln8439His) c.25266A>T (p.Gln8422His) c.25119A>T (p.Gln8373His) | |
| 6 | g.152141210T>C | CA452747060 | SYNE1 | c.1773A>G (p.Gln591=) c.25239A>G (p.Gln8413=) c.25095A>G (p.Gln8365=) c.641A>G c.974A>G c.891-1049A>G c.1011A>G (p.Gln337=) c.24024A>G (p.Gln8008=) n.1987A>G c.4074A>G (p.Gln1358=) n.8931A>G c.3177A>G (p.Gln1059=) n.8823A>G n.1853A>G n.4261A>G n.2076A>G c.1704A>G (p.Gln568=) c.25344A>G (p.Gln8448=) c.25332A>G (p.Gln8444=) c.25323A>G (p.Gln8441=) c.25293A>G (p.Gln8431=) c.25329A>G (p.Gln8443=) c.25275A>G (p.Gln8425=) c.25272A>G (p.Gln8424=) c.25260A>G (p.Gln8420=) c.25203A>G (p.Gln8401=) c.25191A>G (p.Gln8397=) c.25188A>G (p.Gln8396=) c.25185A>G (p.Gln8395=) c.25341A>G (p.Gln8447=) c.25179A>G (p.Gln8393=) c.23619A>G (p.Gln7873=) c.23112A>G (p.Gln7704=) c.18579A>G (p.Gln6193=) c.1845A>G (p.Gln615=) c.25317A>G (p.Gln8439=) c.25266A>G (p.Gln8422=) c.25119A>G (p.Gln8373=) | |
| 6 | g.152141210T>G | CA366081241 | SYNE1 | c.1773A>C (p.Gln591His) c.25239A>C (p.Gln8413His) c.25095A>C (p.Gln8365His) c.641A>C c.974A>C c.891-1049A>C c.1011A>C (p.Gln337His) c.24024A>C (p.Gln8008His) n.1987A>C c.4074A>C (p.Gln1358His) n.8931A>C c.3177A>C (p.Gln1059His) n.8823A>C n.1853A>C n.4261A>C n.2076A>C c.1704A>C (p.Gln568His) c.25344A>C (p.Gln8448His) c.25332A>C (p.Gln8444His) c.25323A>C (p.Gln8441His) c.25293A>C (p.Gln8431His) c.25329A>C (p.Gln8443His) c.25275A>C (p.Gln8425His) c.25272A>C (p.Gln8424His) c.25260A>C (p.Gln8420His) c.25203A>C (p.Gln8401His) c.25191A>C (p.Gln8397His) c.25188A>C (p.Gln8396His) c.25185A>C (p.Gln8395His) c.25341A>C (p.Gln8447His) c.25179A>C (p.Gln8393His) c.23619A>C (p.Gln7873His) c.23112A>C (p.Gln7704His) c.18579A>C (p.Gln6193His) c.1845A>C (p.Gln615His) c.25317A>C (p.Gln8439His) c.25266A>C (p.Gln8422His) c.25119A>C (p.Gln8373His) | gnomAD v4 |
| 6 | g.152141211T>A | CA366081243 | SYNE1 | c.1772A>T (p.Gln591Leu) c.25238A>T (p.Gln8413Leu) c.25094A>T (p.Gln8365Leu) c.640A>T c.973A>T c.891-1050A>T c.1010A>T (p.Gln337Leu) c.24023A>T (p.Gln8008Leu) n.1986A>T c.4073A>T (p.Gln1358Leu) n.8930A>T c.3176A>T (p.Gln1059Leu) n.8822A>T n.1852A>T n.4260A>T n.2075A>T c.1703A>T (p.Gln568Leu) c.25343A>T (p.Gln8448Leu) c.25331A>T (p.Gln8444Leu) c.25322A>T (p.Gln8441Leu) c.25292A>T (p.Gln8431Leu) c.25328A>T (p.Gln8443Leu) c.25274A>T (p.Gln8425Leu) c.25271A>T (p.Gln8424Leu) c.25259A>T (p.Gln8420Leu) c.25202A>T (p.Gln8401Leu) c.25190A>T (p.Gln8397Leu) c.25187A>T (p.Gln8396Leu) c.25184A>T (p.Gln8395Leu) c.25340A>T (p.Gln8447Leu) c.25178A>T (p.Gln8393Leu) c.23618A>T (p.Gln7873Leu) c.23111A>T (p.Gln7704Leu) c.18578A>T (p.Gln6193Leu) c.1844A>T (p.Gln615Leu) c.25316A>T (p.Gln8439Leu) c.25265A>T (p.Gln8422Leu) c.25118A>T (p.Gln8373Leu) | |
| 6 | g.152141211T>C | CA366081244 | SYNE1 | c.1772A>G (p.Gln591Arg) c.25238A>G (p.Gln8413Arg) c.25094A>G (p.Gln8365Arg) c.640A>G c.973A>G c.891-1050A>G c.1010A>G (p.Gln337Arg) c.24023A>G (p.Gln8008Arg) n.1986A>G c.4073A>G (p.Gln1358Arg) n.8930A>G c.3176A>G (p.Gln1059Arg) n.8822A>G n.1852A>G n.4260A>G n.2075A>G c.1703A>G (p.Gln568Arg) c.25343A>G (p.Gln8448Arg) c.25331A>G (p.Gln8444Arg) c.25322A>G (p.Gln8441Arg) c.25292A>G (p.Gln8431Arg) c.25328A>G (p.Gln8443Arg) c.25274A>G (p.Gln8425Arg) c.25271A>G (p.Gln8424Arg) c.25259A>G (p.Gln8420Arg) c.25202A>G (p.Gln8401Arg) c.25190A>G (p.Gln8397Arg) c.25187A>G (p.Gln8396Arg) c.25184A>G (p.Gln8395Arg) c.25340A>G (p.Gln8447Arg) c.25178A>G (p.Gln8393Arg) c.23618A>G (p.Gln7873Arg) c.23111A>G (p.Gln7704Arg) c.18578A>G (p.Gln6193Arg) c.1844A>G (p.Gln615Arg) c.25316A>G (p.Gln8439Arg) c.25265A>G (p.Gln8422Arg) c.25118A>G (p.Gln8373Arg) | gnomAD v4 |
| 6 | g.152141211T>G | CA366081247 | SYNE1 | c.1772A>C (p.Gln591Pro) c.25238A>C (p.Gln8413Pro) c.25094A>C (p.Gln8365Pro) c.640A>C c.973A>C c.891-1050A>C c.1010A>C (p.Gln337Pro) c.24023A>C (p.Gln8008Pro) n.1986A>C c.4073A>C (p.Gln1358Pro) n.8930A>C c.3176A>C (p.Gln1059Pro) n.8822A>C n.1852A>C n.4260A>C n.2075A>C c.1703A>C (p.Gln568Pro) c.25343A>C (p.Gln8448Pro) c.25331A>C (p.Gln8444Pro) c.25322A>C (p.Gln8441Pro) c.25292A>C (p.Gln8431Pro) c.25328A>C (p.Gln8443Pro) c.25274A>C (p.Gln8425Pro) c.25271A>C (p.Gln8424Pro) c.25259A>C (p.Gln8420Pro) c.25202A>C (p.Gln8401Pro) c.25190A>C (p.Gln8397Pro) c.25187A>C (p.Gln8396Pro) c.25184A>C (p.Gln8395Pro) c.25340A>C (p.Gln8447Pro) c.25178A>C (p.Gln8393Pro) c.23618A>C (p.Gln7873Pro) c.23111A>C (p.Gln7704Pro) c.18578A>C (p.Gln6193Pro) c.1844A>C (p.Gln615Pro) c.25316A>C (p.Gln8439Pro) c.25265A>C (p.Gln8422Pro) c.25118A>C (p.Gln8373Pro) | |
| 6 | g.152141212G>A | CA366081249 | SYNE1 | c.1771C>T (p.Gln591Ter) c.25237C>T (p.Gln8413Ter) c.25093C>T (p.Gln8365Ter) c.639C>T c.972C>T c.891-1051C>T c.1009C>T (p.Gln337Ter) c.24022C>T (p.Gln8008Ter) n.1985C>T c.4072C>T (p.Gln1358Ter) n.8929C>T c.3175C>T (p.Gln1059Ter) n.8821C>T n.1851C>T n.4259C>T n.2074C>T c.1702C>T (p.Gln568Ter) c.25342C>T (p.Gln8448Ter) c.25330C>T (p.Gln8444Ter) c.25321C>T (p.Gln8441Ter) c.25291C>T (p.Gln8431Ter) c.25327C>T (p.Gln8443Ter) c.25273C>T (p.Gln8425Ter) c.25270C>T (p.Gln8424Ter) c.25258C>T (p.Gln8420Ter) c.25201C>T (p.Gln8401Ter) c.25189C>T (p.Gln8397Ter) c.25186C>T (p.Gln8396Ter) c.25183C>T (p.Gln8395Ter) c.25339C>T (p.Gln8447Ter) c.25177C>T (p.Gln8393Ter) c.23617C>T (p.Gln7873Ter) c.23110C>T (p.Gln7704Ter) c.18577C>T (p.Gln6193Ter) c.1843C>T (p.Gln615Ter) c.25315C>T (p.Gln8439Ter) c.25264C>T (p.Gln8422Ter) c.25117C>T (p.Gln8373Ter) | |
| 6 | g.152141212G>C | CA366081251 | SYNE1 | c.1771C>G (p.Gln591Glu) c.25237C>G (p.Gln8413Glu) c.25093C>G (p.Gln8365Glu) c.639C>G c.972C>G c.891-1051C>G c.1009C>G (p.Gln337Glu) c.24022C>G (p.Gln8008Glu) n.1985C>G c.4072C>G (p.Gln1358Glu) n.8929C>G c.3175C>G (p.Gln1059Glu) n.8821C>G n.1851C>G n.4259C>G n.2074C>G c.1702C>G (p.Gln568Glu) c.25342C>G (p.Gln8448Glu) c.25330C>G (p.Gln8444Glu) c.25321C>G (p.Gln8441Glu) c.25291C>G (p.Gln8431Glu) c.25327C>G (p.Gln8443Glu) c.25273C>G (p.Gln8425Glu) c.25270C>G (p.Gln8424Glu) c.25258C>G (p.Gln8420Glu) c.25201C>G (p.Gln8401Glu) c.25189C>G (p.Gln8397Glu) c.25186C>G (p.Gln8396Glu) c.25183C>G (p.Gln8395Glu) c.25339C>G (p.Gln8447Glu) c.25177C>G (p.Gln8393Glu) c.23617C>G (p.Gln7873Glu) c.23110C>G (p.Gln7704Glu) c.18577C>G (p.Gln6193Glu) c.1843C>G (p.Gln615Glu) c.25315C>G (p.Gln8439Glu) c.25264C>G (p.Gln8422Glu) c.25117C>G (p.Gln8373Glu) | |
| 6 | g.152141212G>T | CA366081254 | SYNE1 | c.1771C>A (p.Gln591Lys) c.25237C>A (p.Gln8413Lys) c.25093C>A (p.Gln8365Lys) c.639C>A c.972C>A c.891-1051C>A c.1009C>A (p.Gln337Lys) c.24022C>A (p.Gln8008Lys) n.1985C>A c.4072C>A (p.Gln1358Lys) n.8929C>A c.3175C>A (p.Gln1059Lys) n.8821C>A n.1851C>A n.4259C>A n.2074C>A c.1702C>A (p.Gln568Lys) c.25342C>A (p.Gln8448Lys) c.25330C>A (p.Gln8444Lys) c.25321C>A (p.Gln8441Lys) c.25291C>A (p.Gln8431Lys) c.25327C>A (p.Gln8443Lys) c.25273C>A (p.Gln8425Lys) c.25270C>A (p.Gln8424Lys) c.25258C>A (p.Gln8420Lys) c.25201C>A (p.Gln8401Lys) c.25189C>A (p.Gln8397Lys) c.25186C>A (p.Gln8396Lys) c.25183C>A (p.Gln8395Lys) c.25339C>A (p.Gln8447Lys) c.25177C>A (p.Gln8393Lys) c.23617C>A (p.Gln7873Lys) c.23110C>A (p.Gln7704Lys) c.18577C>A (p.Gln6193Lys) c.1843C>A (p.Gln615Lys) c.25315C>A (p.Gln8439Lys) c.25264C>A (p.Gln8422Lys) c.25117C>A (p.Gln8373Lys) | |
| 6 | g.152141213G>A | CA452747065 | SYNE1 | c.1770C>T (p.Thr590=) c.25236C>T (p.Thr8412=) c.25092C>T (p.Thr8364=) c.638C>T c.971C>T c.891-1052C>T c.1008C>T (p.Thr336=) c.24021C>T (p.Thr8007=) n.1984C>T c.4071C>T (p.Thr1357=) n.8928C>T c.3174C>T (p.Thr1058=) n.8820C>T n.1850C>T n.4258C>T n.2073C>T c.1701C>T (p.Thr567=) c.25341C>T (p.Thr8447=) c.25329C>T (p.Thr8443=) c.25320C>T (p.Thr8440=) c.25290C>T (p.Thr8430=) c.25326C>T (p.Thr8442=) c.25272C>T (p.Thr8424=) c.25269C>T (p.Thr8423=) c.25257C>T (p.Thr8419=) c.25200C>T (p.Thr8400=) c.25188C>T (p.Thr8396=) c.25185C>T (p.Thr8395=) c.25182C>T (p.Thr8394=) c.25338C>T (p.Thr8446=) c.25176C>T (p.Thr8392=) c.23616C>T (p.Thr7872=) c.23109C>T (p.Thr7703=) c.18576C>T (p.Thr6192=) c.1842C>T (p.Thr614=) c.25314C>T (p.Thr8438=) c.25263C>T (p.Thr8421=) c.25116C>T (p.Thr8372=) | |
| 6 | g.152141213G>C | CA452747066 | SYNE1 | c.1770C>G (p.Thr590=) c.25236C>G (p.Thr8412=) c.25092C>G (p.Thr8364=) c.638C>G c.971C>G c.891-1052C>G c.1008C>G (p.Thr336=) c.24021C>G (p.Thr8007=) n.1984C>G c.4071C>G (p.Thr1357=) n.8928C>G c.3174C>G (p.Thr1058=) n.8820C>G n.1850C>G n.4258C>G n.2073C>G c.1701C>G (p.Thr567=) c.25341C>G (p.Thr8447=) c.25329C>G (p.Thr8443=) c.25320C>G (p.Thr8440=) c.25290C>G (p.Thr8430=) c.25326C>G (p.Thr8442=) c.25272C>G (p.Thr8424=) c.25269C>G (p.Thr8423=) c.25257C>G (p.Thr8419=) c.25200C>G (p.Thr8400=) c.25188C>G (p.Thr8396=) c.25185C>G (p.Thr8395=) c.25182C>G (p.Thr8394=) c.25338C>G (p.Thr8446=) c.25176C>G (p.Thr8392=) c.23616C>G (p.Thr7872=) c.23109C>G (p.Thr7703=) c.18576C>G (p.Thr6192=) c.1842C>G (p.Thr614=) c.25314C>G (p.Thr8438=) c.25263C>G (p.Thr8421=) c.25116C>G (p.Thr8372=) | |
| 6 | g.152141213G>T | CA452747067 | SYNE1 | c.1770C>A (p.Thr590=) c.25236C>A (p.Thr8412=) c.25092C>A (p.Thr8364=) c.638C>A c.971C>A c.891-1052C>A c.1008C>A (p.Thr336=) c.24021C>A (p.Thr8007=) n.1984C>A c.4071C>A (p.Thr1357=) n.8928C>A c.3174C>A (p.Thr1058=) n.8820C>A n.1850C>A n.4258C>A n.2073C>A c.1701C>A (p.Thr567=) c.25341C>A (p.Thr8447=) c.25329C>A (p.Thr8443=) c.25320C>A (p.Thr8440=) c.25290C>A (p.Thr8430=) c.25326C>A (p.Thr8442=) c.25272C>A (p.Thr8424=) c.25269C>A (p.Thr8423=) c.25257C>A (p.Thr8419=) c.25200C>A (p.Thr8400=) c.25188C>A (p.Thr8396=) c.25185C>A (p.Thr8395=) c.25182C>A (p.Thr8394=) c.25338C>A (p.Thr8446=) c.25176C>A (p.Thr8392=) c.23616C>A (p.Thr7872=) c.23109C>A (p.Thr7703=) c.18576C>A (p.Thr6192=) c.1842C>A (p.Thr614=) c.25314C>A (p.Thr8438=) c.25263C>A (p.Thr8421=) c.25116C>A (p.Thr8372=) | |
| 6 | g.152141214G>A | CA366081261 | SYNE1 | c.1769C>T (p.Thr590Ile) c.25235C>T (p.Thr8412Ile) c.25091C>T (p.Thr8364Ile) c.637C>T c.970C>T c.891-1053C>T c.1007C>T (p.Thr336Ile) c.24020C>T (p.Thr8007Ile) n.1983C>T c.4070C>T (p.Thr1357Ile) n.8927C>T c.3173C>T (p.Thr1058Ile) n.8819C>T n.1849C>T n.4257C>T n.2072C>T c.1700C>T (p.Thr567Ile) c.25340C>T (p.Thr8447Ile) c.25328C>T (p.Thr8443Ile) c.25319C>T (p.Thr8440Ile) c.25289C>T (p.Thr8430Ile) c.25325C>T (p.Thr8442Ile) c.25271C>T (p.Thr8424Ile) c.25268C>T (p.Thr8423Ile) c.25256C>T (p.Thr8419Ile) c.25199C>T (p.Thr8400Ile) c.25187C>T (p.Thr8396Ile) c.25184C>T (p.Thr8395Ile) c.25181C>T (p.Thr8394Ile) c.25337C>T (p.Thr8446Ile) c.25175C>T (p.Thr8392Ile) c.23615C>T (p.Thr7872Ile) c.23108C>T (p.Thr7703Ile) c.18575C>T (p.Thr6192Ile) c.1841C>T (p.Thr614Ile) c.25313C>T (p.Thr8438Ile) c.25262C>T (p.Thr8421Ile) c.25115C>T (p.Thr8372Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141214G>C | CA366081258 | SYNE1 | c.1769C>G (p.Thr590Ser) c.25235C>G (p.Thr8412Ser) c.25091C>G (p.Thr8364Ser) c.637C>G c.970C>G c.891-1053C>G c.1007C>G (p.Thr336Ser) c.24020C>G (p.Thr8007Ser) n.1983C>G c.4070C>G (p.Thr1357Ser) n.8927C>G c.3173C>G (p.Thr1058Ser) n.8819C>G n.1849C>G n.4257C>G n.2072C>G c.1700C>G (p.Thr567Ser) c.25340C>G (p.Thr8447Ser) c.25328C>G (p.Thr8443Ser) c.25319C>G (p.Thr8440Ser) c.25289C>G (p.Thr8430Ser) c.25325C>G (p.Thr8442Ser) c.25271C>G (p.Thr8424Ser) c.25268C>G (p.Thr8423Ser) c.25256C>G (p.Thr8419Ser) c.25199C>G (p.Thr8400Ser) c.25187C>G (p.Thr8396Ser) c.25184C>G (p.Thr8395Ser) c.25181C>G (p.Thr8394Ser) c.25337C>G (p.Thr8446Ser) c.25175C>G (p.Thr8392Ser) c.23615C>G (p.Thr7872Ser) c.23108C>G (p.Thr7703Ser) c.18575C>G (p.Thr6192Ser) c.1841C>G (p.Thr614Ser) c.25313C>G (p.Thr8438Ser) c.25262C>G (p.Thr8421Ser) c.25115C>G (p.Thr8372Ser) | |
| 6 | g.152141214G= | CA1673207575 | SYNE1 | c.1769C= (p.Thr590=) c.25235C= (p.Thr8412=) c.25091C= (p.Thr8364=) c.637C= c.970C= c.891-1053C= c.1007C= (p.Thr336=) c.24020C= (p.Thr8007=) n.1983C= c.4070C= (p.Thr1357=) n.8927C= c.3173C= (p.Thr1058=) n.8819C= n.1849C= n.4257C= n.2072C= c.1700C= (p.Thr567=) c.25340C= (p.Thr8447=) c.25328C= (p.Thr8443=) c.25319C= (p.Thr8440=) c.25289C= (p.Thr8430=) c.25325C= (p.Thr8442=) c.25271C= (p.Thr8424=) c.25268C= (p.Thr8423=) c.25256C= (p.Thr8419=) c.25199C= (p.Thr8400=) c.25187C= (p.Thr8396=) c.25184C= (p.Thr8395=) c.25181C= (p.Thr8394=) c.25337C= (p.Thr8446=) c.25175C= (p.Thr8392=) c.23615C= (p.Thr7872=) c.23108C= (p.Thr7703=) c.18575C= (p.Thr6192=) c.1841C= (p.Thr614=) c.25313C= (p.Thr8438=) c.25262C= (p.Thr8421=) c.25115C= (p.Thr8372=) | |
| 6 | g.152141214G>T | CA366081257 | SYNE1 | c.1769C>A (p.Thr590Asn) c.25235C>A (p.Thr8412Asn) c.25091C>A (p.Thr8364Asn) c.637C>A c.970C>A c.891-1053C>A c.1007C>A (p.Thr336Asn) c.24020C>A (p.Thr8007Asn) n.1983C>A c.4070C>A (p.Thr1357Asn) n.8927C>A c.3173C>A (p.Thr1058Asn) n.8819C>A n.1849C>A n.4257C>A n.2072C>A c.1700C>A (p.Thr567Asn) c.25340C>A (p.Thr8447Asn) c.25328C>A (p.Thr8443Asn) c.25319C>A (p.Thr8440Asn) c.25289C>A (p.Thr8430Asn) c.25325C>A (p.Thr8442Asn) c.25271C>A (p.Thr8424Asn) c.25268C>A (p.Thr8423Asn) c.25256C>A (p.Thr8419Asn) c.25199C>A (p.Thr8400Asn) c.25187C>A (p.Thr8396Asn) c.25184C>A (p.Thr8395Asn) c.25181C>A (p.Thr8394Asn) c.25337C>A (p.Thr8446Asn) c.25175C>A (p.Thr8392Asn) c.23615C>A (p.Thr7872Asn) c.23108C>A (p.Thr7703Asn) c.18575C>A (p.Thr6192Asn) c.1841C>A (p.Thr614Asn) c.25313C>A (p.Thr8438Asn) c.25262C>A (p.Thr8421Asn) c.25115C>A (p.Thr8372Asn) | |
| 6 | g.152141215T>A | CA150166634 | SYNE1 | c.1768A>T (p.Thr590Ser) c.25234A>T (p.Thr8412Ser) c.25090A>T (p.Thr8364Ser) c.636A>T c.969A>T c.891-1054A>T c.1006A>T (p.Thr336Ser) c.24019A>T (p.Thr8007Ser) n.1982A>T c.4069A>T (p.Thr1357Ser) n.8926A>T c.3172A>T (p.Thr1058Ser) n.8818A>T n.1848A>T n.4256A>T n.2071A>T c.1699A>T (p.Thr567Ser) c.25339A>T (p.Thr8447Ser) c.25327A>T (p.Thr8443Ser) c.25318A>T (p.Thr8440Ser) c.25288A>T (p.Thr8430Ser) c.25324A>T (p.Thr8442Ser) c.25270A>T (p.Thr8424Ser) c.25267A>T (p.Thr8423Ser) c.25255A>T (p.Thr8419Ser) c.25198A>T (p.Thr8400Ser) c.25186A>T (p.Thr8396Ser) c.25183A>T (p.Thr8395Ser) c.25180A>T (p.Thr8394Ser) c.25336A>T (p.Thr8446Ser) c.25174A>T (p.Thr8392Ser) c.23614A>T (p.Thr7872Ser) c.23107A>T (p.Thr7703Ser) c.18574A>T (p.Thr6192Ser) c.1840A>T (p.Thr614Ser) c.25312A>T (p.Thr8438Ser) c.25261A>T (p.Thr8421Ser) c.25114A>T (p.Thr8372Ser) | dbSNP gnomAD v4 |
| 6 | g.152141215T>C | CA366081264 | SYNE1 | c.1768A>G (p.Thr590Ala) c.25234A>G (p.Thr8412Ala) c.25090A>G (p.Thr8364Ala) c.636A>G c.969A>G c.891-1054A>G c.1006A>G (p.Thr336Ala) c.24019A>G (p.Thr8007Ala) n.1982A>G c.4069A>G (p.Thr1357Ala) n.8926A>G c.3172A>G (p.Thr1058Ala) n.8818A>G n.1848A>G n.4256A>G n.2071A>G c.1699A>G (p.Thr567Ala) c.25339A>G (p.Thr8447Ala) c.25327A>G (p.Thr8443Ala) c.25318A>G (p.Thr8440Ala) c.25288A>G (p.Thr8430Ala) c.25324A>G (p.Thr8442Ala) c.25270A>G (p.Thr8424Ala) c.25267A>G (p.Thr8423Ala) c.25255A>G (p.Thr8419Ala) c.25198A>G (p.Thr8400Ala) c.25186A>G (p.Thr8396Ala) c.25183A>G (p.Thr8395Ala) c.25180A>G (p.Thr8394Ala) c.25336A>G (p.Thr8446Ala) c.25174A>G (p.Thr8392Ala) c.23614A>G (p.Thr7872Ala) c.23107A>G (p.Thr7703Ala) c.18574A>G (p.Thr6192Ala) c.1840A>G (p.Thr614Ala) c.25312A>G (p.Thr8438Ala) c.25261A>G (p.Thr8421Ala) c.25114A>G (p.Thr8372Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152141215T>G | CA366081266 | SYNE1 | c.1768A>C (p.Thr590Pro) c.25234A>C (p.Thr8412Pro) c.25090A>C (p.Thr8364Pro) c.636A>C c.969A>C c.891-1054A>C c.1006A>C (p.Thr336Pro) c.24019A>C (p.Thr8007Pro) n.1982A>C c.4069A>C (p.Thr1357Pro) n.8926A>C c.3172A>C (p.Thr1058Pro) n.8818A>C n.1848A>C n.4256A>C n.2071A>C c.1699A>C (p.Thr567Pro) c.25339A>C (p.Thr8447Pro) c.25327A>C (p.Thr8443Pro) c.25318A>C (p.Thr8440Pro) c.25288A>C (p.Thr8430Pro) c.25324A>C (p.Thr8442Pro) c.25270A>C (p.Thr8424Pro) c.25267A>C (p.Thr8423Pro) c.25255A>C (p.Thr8419Pro) c.25198A>C (p.Thr8400Pro) c.25186A>C (p.Thr8396Pro) c.25183A>C (p.Thr8395Pro) c.25180A>C (p.Thr8394Pro) c.25336A>C (p.Thr8446Pro) c.25174A>C (p.Thr8392Pro) c.23614A>C (p.Thr7872Pro) c.23107A>C (p.Thr7703Pro) c.18574A>C (p.Thr6192Pro) c.1840A>C (p.Thr614Pro) c.25312A>C (p.Thr8438Pro) c.25261A>C (p.Thr8421Pro) c.25114A>C (p.Thr8372Pro) | gnomAD v4 |
| 6 | g.152141215T= | CA1673207578 | SYNE1 | c.1768A= (p.Thr590=) c.25234A= (p.Thr8412=) c.25090A= (p.Thr8364=) c.636A= c.969A= c.891-1054A= c.1006A= (p.Thr336=) c.24019A= (p.Thr8007=) n.1982A= c.4069A= (p.Thr1357=) n.8926A= c.3172A= (p.Thr1058=) n.8818A= n.1848A= n.4256A= n.2071A= c.1699A= (p.Thr567=) c.25339A= (p.Thr8447=) c.25327A= (p.Thr8443=) c.25318A= (p.Thr8440=) c.25288A= (p.Thr8430=) c.25324A= (p.Thr8442=) c.25270A= (p.Thr8424=) c.25267A= (p.Thr8423=) c.25255A= (p.Thr8419=) c.25198A= (p.Thr8400=) c.25186A= (p.Thr8396=) c.25183A= (p.Thr8395=) c.25180A= (p.Thr8394=) c.25336A= (p.Thr8446=) c.25174A= (p.Thr8392=) c.23614A= (p.Thr7872=) c.23107A= (p.Thr7703=) c.18574A= (p.Thr6192=) c.1840A= (p.Thr614=) c.25312A= (p.Thr8438=) c.25261A= (p.Thr8421=) c.25114A= (p.Thr8372=) | |
| 6 | g.152141216T>A | CA366081268 | SYNE1 | c.1767A>T (p.Glu589Asp) c.25233A>T (p.Glu8411Asp) c.25089A>T (p.Glu8363Asp) c.635A>T c.968A>T c.891-1055A>T c.1005A>T (p.Glu335Asp) c.24018A>T (p.Glu8006Asp) n.1981A>T c.4068A>T (p.Glu1356Asp) n.8925A>T c.3171A>T (p.Glu1057Asp) n.8817A>T n.1847A>T n.4255A>T n.2070A>T c.1698A>T (p.Glu566Asp) c.25338A>T (p.Glu8446Asp) c.25326A>T (p.Glu8442Asp) c.25317A>T (p.Glu8439Asp) c.25287A>T (p.Glu8429Asp) c.25323A>T (p.Glu8441Asp) c.25269A>T (p.Glu8423Asp) c.25266A>T (p.Glu8422Asp) c.25254A>T (p.Glu8418Asp) c.25197A>T (p.Glu8399Asp) c.25185A>T (p.Glu8395Asp) c.25182A>T (p.Glu8394Asp) c.25179A>T (p.Glu8393Asp) c.25335A>T (p.Glu8445Asp) c.25173A>T (p.Glu8391Asp) c.23613A>T (p.Glu7871Asp) c.23106A>T (p.Glu7702Asp) c.18573A>T (p.Glu6191Asp) c.1839A>T (p.Glu613Asp) c.25311A>T (p.Glu8437Asp) c.25260A>T (p.Glu8420Asp) c.25113A>T (p.Glu8371Asp) | |
| 6 | g.152141216T>C | CA452747069 | SYNE1 | c.1767A>G (p.Glu589=) c.25233A>G (p.Glu8411=) c.25089A>G (p.Glu8363=) c.635A>G c.968A>G c.891-1055A>G c.1005A>G (p.Glu335=) c.24018A>G (p.Glu8006=) n.1981A>G c.4068A>G (p.Glu1356=) n.8925A>G c.3171A>G (p.Glu1057=) n.8817A>G n.1847A>G n.4255A>G n.2070A>G c.1698A>G (p.Glu566=) c.25338A>G (p.Glu8446=) c.25326A>G (p.Glu8442=) c.25317A>G (p.Glu8439=) c.25287A>G (p.Glu8429=) c.25323A>G (p.Glu8441=) c.25269A>G (p.Glu8423=) c.25266A>G (p.Glu8422=) c.25254A>G (p.Glu8418=) c.25197A>G (p.Glu8399=) c.25185A>G (p.Glu8395=) c.25182A>G (p.Glu8394=) c.25179A>G (p.Glu8393=) c.25335A>G (p.Glu8445=) c.25173A>G (p.Glu8391=) c.23613A>G (p.Glu7871=) c.23106A>G (p.Glu7702=) c.18573A>G (p.Glu6191=) c.1839A>G (p.Glu613=) c.25311A>G (p.Glu8437=) c.25260A>G (p.Glu8420=) c.25113A>G (p.Glu8371=) | |
| 6 | g.152141216T>G | CA366081270 | SYNE1 | c.1767A>C (p.Glu589Asp) c.25233A>C (p.Glu8411Asp) c.25089A>C (p.Glu8363Asp) c.635A>C c.968A>C c.891-1055A>C c.1005A>C (p.Glu335Asp) c.24018A>C (p.Glu8006Asp) n.1981A>C c.4068A>C (p.Glu1356Asp) n.8925A>C c.3171A>C (p.Glu1057Asp) n.8817A>C n.1847A>C n.4255A>C n.2070A>C c.1698A>C (p.Glu566Asp) c.25338A>C (p.Glu8446Asp) c.25326A>C (p.Glu8442Asp) c.25317A>C (p.Glu8439Asp) c.25287A>C (p.Glu8429Asp) c.25323A>C (p.Glu8441Asp) c.25269A>C (p.Glu8423Asp) c.25266A>C (p.Glu8422Asp) c.25254A>C (p.Glu8418Asp) c.25197A>C (p.Glu8399Asp) c.25185A>C (p.Glu8395Asp) c.25182A>C (p.Glu8394Asp) c.25179A>C (p.Glu8393Asp) c.25335A>C (p.Glu8445Asp) c.25173A>C (p.Glu8391Asp) c.23613A>C (p.Glu7871Asp) c.23106A>C (p.Glu7702Asp) c.18573A>C (p.Glu6191Asp) c.1839A>C (p.Glu613Asp) c.25311A>C (p.Glu8437Asp) c.25260A>C (p.Glu8420Asp) c.25113A>C (p.Glu8371Asp) | |
| 6 | g.152141217T>A | CA366081273 | SYNE1 | c.1766A>T (p.Glu589Val) c.25232A>T (p.Glu8411Val) c.25088A>T (p.Glu8363Val) c.634A>T c.967A>T c.891-1056A>T c.1004A>T (p.Glu335Val) c.24017A>T (p.Glu8006Val) n.1980A>T c.4067A>T (p.Glu1356Val) n.8924A>T c.3170A>T (p.Glu1057Val) n.8816A>T n.1846A>T n.4254A>T n.2069A>T c.1697A>T (p.Glu566Val) c.25337A>T (p.Glu8446Val) c.25325A>T (p.Glu8442Val) c.25316A>T (p.Glu8439Val) c.25286A>T (p.Glu8429Val) c.25322A>T (p.Glu8441Val) c.25268A>T (p.Glu8423Val) c.25265A>T (p.Glu8422Val) c.25253A>T (p.Glu8418Val) c.25196A>T (p.Glu8399Val) c.25184A>T (p.Glu8395Val) c.25181A>T (p.Glu8394Val) c.25178A>T (p.Glu8393Val) c.25334A>T (p.Glu8445Val) c.25172A>T (p.Glu8391Val) c.23612A>T (p.Glu7871Val) c.23105A>T (p.Glu7702Val) c.18572A>T (p.Glu6191Val) c.1838A>T (p.Glu613Val) c.25310A>T (p.Glu8437Val) c.25259A>T (p.Glu8420Val) c.25112A>T (p.Glu8371Val) | |
| 6 | g.152141217T>C | CA366081275 | SYNE1 | c.1766A>G (p.Glu589Gly) c.25232A>G (p.Glu8411Gly) c.25088A>G (p.Glu8363Gly) c.634A>G c.967A>G c.891-1056A>G c.1004A>G (p.Glu335Gly) c.24017A>G (p.Glu8006Gly) n.1980A>G c.4067A>G (p.Glu1356Gly) n.8924A>G c.3170A>G (p.Glu1057Gly) n.8816A>G n.1846A>G n.4254A>G n.2069A>G c.1697A>G (p.Glu566Gly) c.25337A>G (p.Glu8446Gly) c.25325A>G (p.Glu8442Gly) c.25316A>G (p.Glu8439Gly) c.25286A>G (p.Glu8429Gly) c.25322A>G (p.Glu8441Gly) c.25268A>G (p.Glu8423Gly) c.25265A>G (p.Glu8422Gly) c.25253A>G (p.Glu8418Gly) c.25196A>G (p.Glu8399Gly) c.25184A>G (p.Glu8395Gly) c.25181A>G (p.Glu8394Gly) c.25178A>G (p.Glu8393Gly) c.25334A>G (p.Glu8445Gly) c.25172A>G (p.Glu8391Gly) c.23612A>G (p.Glu7871Gly) c.23105A>G (p.Glu7702Gly) c.18572A>G (p.Glu6191Gly) c.1838A>G (p.Glu613Gly) c.25310A>G (p.Glu8437Gly) c.25259A>G (p.Glu8420Gly) c.25112A>G (p.Glu8371Gly) | |
| 6 | g.152141217T>G | CA366081278 | SYNE1 | c.1766A>C (p.Glu589Ala) c.25232A>C (p.Glu8411Ala) c.25088A>C (p.Glu8363Ala) c.634A>C c.967A>C c.891-1056A>C c.1004A>C (p.Glu335Ala) c.24017A>C (p.Glu8006Ala) n.1980A>C c.4067A>C (p.Glu1356Ala) n.8924A>C c.3170A>C (p.Glu1057Ala) n.8816A>C n.1846A>C n.4254A>C n.2069A>C c.1697A>C (p.Glu566Ala) c.25337A>C (p.Glu8446Ala) c.25325A>C (p.Glu8442Ala) c.25316A>C (p.Glu8439Ala) c.25286A>C (p.Glu8429Ala) c.25322A>C (p.Glu8441Ala) c.25268A>C (p.Glu8423Ala) c.25265A>C (p.Glu8422Ala) c.25253A>C (p.Glu8418Ala) c.25196A>C (p.Glu8399Ala) c.25184A>C (p.Glu8395Ala) c.25181A>C (p.Glu8394Ala) c.25178A>C (p.Glu8393Ala) c.25334A>C (p.Glu8445Ala) c.25172A>C (p.Glu8391Ala) c.23612A>C (p.Glu7871Ala) c.23105A>C (p.Glu7702Ala) c.18572A>C (p.Glu6191Ala) c.1838A>C (p.Glu613Ala) c.25310A>C (p.Glu8437Ala) c.25259A>C (p.Glu8420Ala) c.25112A>C (p.Glu8371Ala) | |
| 6 | g.152141218C>A | CA366081281 | SYNE1 | c.1765G>T (p.Glu589Ter) c.25231G>T (p.Glu8411Ter) c.25087G>T (p.Glu8363Ter) c.633G>T c.966G>T c.891-1057G>T c.1003G>T (p.Glu335Ter) c.24016G>T (p.Glu8006Ter) n.1979G>T c.4066G>T (p.Glu1356Ter) n.8923G>T c.3169G>T (p.Glu1057Ter) n.8815G>T n.1845G>T n.4253G>T n.2068G>T c.1696G>T (p.Glu566Ter) c.25336G>T (p.Glu8446Ter) c.25324G>T (p.Glu8442Ter) c.25315G>T (p.Glu8439Ter) c.25285G>T (p.Glu8429Ter) c.25321G>T (p.Glu8441Ter) c.25267G>T (p.Glu8423Ter) c.25264G>T (p.Glu8422Ter) c.25252G>T (p.Glu8418Ter) c.25195G>T (p.Glu8399Ter) c.25183G>T (p.Glu8395Ter) c.25180G>T (p.Glu8394Ter) c.25177G>T (p.Glu8393Ter) c.25333G>T (p.Glu8445Ter) c.25171G>T (p.Glu8391Ter) c.23611G>T (p.Glu7871Ter) c.23104G>T (p.Glu7702Ter) c.18571G>T (p.Glu6191Ter) c.1837G>T (p.Glu613Ter) c.25309G>T (p.Glu8437Ter) c.25258G>T (p.Glu8420Ter) c.25111G>T (p.Glu8371Ter) | |
| 6 | g.152141218C= | CA1673207581 | SYNE1 | c.1765G= (p.Glu589=) c.25231G= (p.Glu8411=) c.25087G= (p.Glu8363=) c.633G= c.966G= c.891-1057G= c.1003G= (p.Glu335=) c.24016G= (p.Glu8006=) n.1979G= c.4066G= (p.Glu1356=) n.8923G= c.3169G= (p.Glu1057=) n.8815G= n.1845G= n.4253G= n.2068G= c.1696G= (p.Glu566=) c.25336G= (p.Glu8446=) c.25324G= (p.Glu8442=) c.25315G= (p.Glu8439=) c.25285G= (p.Glu8429=) c.25321G= (p.Glu8441=) c.25267G= (p.Glu8423=) c.25264G= (p.Glu8422=) c.25252G= (p.Glu8418=) c.25195G= (p.Glu8399=) c.25183G= (p.Glu8395=) c.25180G= (p.Glu8394=) c.25177G= (p.Glu8393=) c.25333G= (p.Glu8445=) c.25171G= (p.Glu8391=) c.23611G= (p.Glu7871=) c.23104G= (p.Glu7702=) c.18571G= (p.Glu6191=) c.1837G= (p.Glu613=) c.25309G= (p.Glu8437=) c.25258G= (p.Glu8420=) c.25111G= (p.Glu8371=) | |
| 6 | g.152141218C>G | CA4052893 | SYNE1 | c.1765G>C (p.Glu589Gln) c.25231G>C (p.Glu8411Gln) c.25087G>C (p.Glu8363Gln) c.633G>C c.966G>C c.891-1057G>C c.1003G>C (p.Glu335Gln) c.24016G>C (p.Glu8006Gln) n.1979G>C c.4066G>C (p.Glu1356Gln) n.8923G>C c.3169G>C (p.Glu1057Gln) n.8815G>C n.1845G>C n.4253G>C n.2068G>C c.1696G>C (p.Glu566Gln) c.25336G>C (p.Glu8446Gln) c.25324G>C (p.Glu8442Gln) c.25315G>C (p.Glu8439Gln) c.25285G>C (p.Glu8429Gln) c.25321G>C (p.Glu8441Gln) c.25267G>C (p.Glu8423Gln) c.25264G>C (p.Glu8422Gln) c.25252G>C (p.Glu8418Gln) c.25195G>C (p.Glu8399Gln) c.25183G>C (p.Glu8395Gln) c.25180G>C (p.Glu8394Gln) c.25177G>C (p.Glu8393Gln) c.25333G>C (p.Glu8445Gln) c.25171G>C (p.Glu8391Gln) c.23611G>C (p.Glu7871Gln) c.23104G>C (p.Glu7702Gln) c.18571G>C (p.Glu6191Gln) c.1837G>C (p.Glu613Gln) c.25309G>C (p.Glu8437Gln) c.25258G>C (p.Glu8420Gln) c.25111G>C (p.Glu8371Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141218C>T | CA4052894 | SYNE1 | c.1765G>A (p.Glu589Lys) c.25231G>A (p.Glu8411Lys) c.25087G>A (p.Glu8363Lys) c.633G>A c.966G>A c.891-1057G>A c.1003G>A (p.Glu335Lys) c.24016G>A (p.Glu8006Lys) n.1979G>A c.4066G>A (p.Glu1356Lys) n.8923G>A c.3169G>A (p.Glu1057Lys) n.8815G>A n.1845G>A n.4253G>A n.2068G>A c.1696G>A (p.Glu566Lys) c.25336G>A (p.Glu8446Lys) c.25324G>A (p.Glu8442Lys) c.25315G>A (p.Glu8439Lys) c.25285G>A (p.Glu8429Lys) c.25321G>A (p.Glu8441Lys) c.25267G>A (p.Glu8423Lys) c.25264G>A (p.Glu8422Lys) c.25252G>A (p.Glu8418Lys) c.25195G>A (p.Glu8399Lys) c.25183G>A (p.Glu8395Lys) c.25180G>A (p.Glu8394Lys) c.25177G>A (p.Glu8393Lys) c.25333G>A (p.Glu8445Lys) c.25171G>A (p.Glu8391Lys) c.23611G>A (p.Glu7871Lys) c.23104G>A (p.Glu7702Lys) c.18571G>A (p.Glu6191Lys) c.1837G>A (p.Glu613Lys) c.25309G>A (p.Glu8437Lys) c.25258G>A (p.Glu8420Lys) c.25111G>A (p.Glu8371Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141219G>A | CA4052895 | SYNE1 | c.1764C>T (p.Thr588=) c.25230C>T (p.Thr8410=) c.25086C>T (p.Thr8362=) c.632C>T c.965C>T c.891-1058C>T c.1002C>T (p.Thr334=) c.24015C>T (p.Thr8005=) n.1978C>T c.4065C>T (p.Thr1355=) n.8922C>T c.3168C>T (p.Thr1056=) n.8814C>T n.1844C>T n.4252C>T n.2067C>T c.1695C>T (p.Thr565=) c.25335C>T (p.Thr8445=) c.25323C>T (p.Thr8441=) c.25314C>T (p.Thr8438=) c.25284C>T (p.Thr8428=) c.25320C>T (p.Thr8440=) c.25266C>T (p.Thr8422=) c.25263C>T (p.Thr8421=) c.25251C>T (p.Thr8417=) c.25194C>T (p.Thr8398=) c.25182C>T (p.Thr8394=) c.25179C>T (p.Thr8393=) c.25176C>T (p.Thr8392=) c.25332C>T (p.Thr8444=) c.25170C>T (p.Thr8390=) c.23610C>T (p.Thr7870=) c.23103C>T (p.Thr7701=) c.18570C>T (p.Thr6190=) c.1836C>T (p.Thr612=) c.25308C>T (p.Thr8436=) c.25257C>T (p.Thr8419=) c.25110C>T (p.Thr8370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141219G>C | CA452747071 | SYNE1 | c.1764C>G (p.Thr588=) c.25230C>G (p.Thr8410=) c.25086C>G (p.Thr8362=) c.632C>G c.965C>G c.891-1058C>G c.1002C>G (p.Thr334=) c.24015C>G (p.Thr8005=) n.1978C>G c.4065C>G (p.Thr1355=) n.8922C>G c.3168C>G (p.Thr1056=) n.8814C>G n.1844C>G n.4252C>G n.2067C>G c.1695C>G (p.Thr565=) c.25335C>G (p.Thr8445=) c.25323C>G (p.Thr8441=) c.25314C>G (p.Thr8438=) c.25284C>G (p.Thr8428=) c.25320C>G (p.Thr8440=) c.25266C>G (p.Thr8422=) c.25263C>G (p.Thr8421=) c.25251C>G (p.Thr8417=) c.25194C>G (p.Thr8398=) c.25182C>G (p.Thr8394=) c.25179C>G (p.Thr8393=) c.25176C>G (p.Thr8392=) c.25332C>G (p.Thr8444=) c.25170C>G (p.Thr8390=) c.23610C>G (p.Thr7870=) c.23103C>G (p.Thr7701=) c.18570C>G (p.Thr6190=) c.1836C>G (p.Thr612=) c.25308C>G (p.Thr8436=) c.25257C>G (p.Thr8419=) c.25110C>G (p.Thr8370=) | gnomAD v4 |
| 6 | g.152141219G= | CA1673207588 | SYNE1 | c.1764C= (p.Thr588=) c.25230C= (p.Thr8410=) c.25086C= (p.Thr8362=) c.632C= c.965C= c.891-1058C= c.1002C= (p.Thr334=) c.24015C= (p.Thr8005=) n.1978C= c.4065C= (p.Thr1355=) n.8922C= c.3168C= (p.Thr1056=) n.8814C= n.1844C= n.4252C= n.2067C= c.1695C= (p.Thr565=) c.25335C= (p.Thr8445=) c.25323C= (p.Thr8441=) c.25314C= (p.Thr8438=) c.25284C= (p.Thr8428=) c.25320C= (p.Thr8440=) c.25266C= (p.Thr8422=) c.25263C= (p.Thr8421=) c.25251C= (p.Thr8417=) c.25194C= (p.Thr8398=) c.25182C= (p.Thr8394=) c.25179C= (p.Thr8393=) c.25176C= (p.Thr8392=) c.25332C= (p.Thr8444=) c.25170C= (p.Thr8390=) c.23610C= (p.Thr7870=) c.23103C= (p.Thr7701=) c.18570C= (p.Thr6190=) c.1836C= (p.Thr612=) c.25308C= (p.Thr8436=) c.25257C= (p.Thr8419=) c.25110C= (p.Thr8370=) | |
| 6 | g.152141219G>T | CA452747072 | SYNE1 | c.1764C>A (p.Thr588=) c.25230C>A (p.Thr8410=) c.25086C>A (p.Thr8362=) c.632C>A c.965C>A c.891-1058C>A c.1002C>A (p.Thr334=) c.24015C>A (p.Thr8005=) n.1978C>A c.4065C>A (p.Thr1355=) n.8922C>A c.3168C>A (p.Thr1056=) n.8814C>A n.1844C>A n.4252C>A n.2067C>A c.1695C>A (p.Thr565=) c.25335C>A (p.Thr8445=) c.25323C>A (p.Thr8441=) c.25314C>A (p.Thr8438=) c.25284C>A (p.Thr8428=) c.25320C>A (p.Thr8440=) c.25266C>A (p.Thr8422=) c.25263C>A (p.Thr8421=) c.25251C>A (p.Thr8417=) c.25194C>A (p.Thr8398=) c.25182C>A (p.Thr8394=) c.25179C>A (p.Thr8393=) c.25176C>A (p.Thr8392=) c.25332C>A (p.Thr8444=) c.25170C>A (p.Thr8390=) c.23610C>A (p.Thr7870=) c.23103C>A (p.Thr7701=) c.18570C>A (p.Thr6190=) c.1836C>A (p.Thr612=) c.25308C>A (p.Thr8436=) c.25257C>A (p.Thr8419=) c.25110C>A (p.Thr8370=) | |
| 6 | g.152141220G>A | CA366081288 | SYNE1 | c.1763C>T (p.Thr588Ile) c.25229C>T (p.Thr8410Ile) c.25085C>T (p.Thr8362Ile) c.631C>T c.964C>T c.891-1059C>T c.1001C>T (p.Thr334Ile) c.24014C>T (p.Thr8005Ile) n.1977C>T c.4064C>T (p.Thr1355Ile) n.8921C>T c.3167C>T (p.Thr1056Ile) n.8813C>T n.1843C>T n.4251C>T n.2066C>T c.1694C>T (p.Thr565Ile) c.25334C>T (p.Thr8445Ile) c.25322C>T (p.Thr8441Ile) c.25313C>T (p.Thr8438Ile) c.25283C>T (p.Thr8428Ile) c.25319C>T (p.Thr8440Ile) c.25265C>T (p.Thr8422Ile) c.25262C>T (p.Thr8421Ile) c.25250C>T (p.Thr8417Ile) c.25193C>T (p.Thr8398Ile) c.25181C>T (p.Thr8394Ile) c.25178C>T (p.Thr8393Ile) c.25175C>T (p.Thr8392Ile) c.25331C>T (p.Thr8444Ile) c.25169C>T (p.Thr8390Ile) c.23609C>T (p.Thr7870Ile) c.23102C>T (p.Thr7701Ile) c.18569C>T (p.Thr6190Ile) c.1835C>T (p.Thr612Ile) c.25307C>T (p.Thr8436Ile) c.25256C>T (p.Thr8419Ile) c.25109C>T (p.Thr8370Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.152141220G>C | CA366081289 | SYNE1 | c.1763C>G (p.Thr588Ser) c.25229C>G (p.Thr8410Ser) c.25085C>G (p.Thr8362Ser) c.631C>G c.964C>G c.891-1059C>G c.1001C>G (p.Thr334Ser) c.24014C>G (p.Thr8005Ser) n.1977C>G c.4064C>G (p.Thr1355Ser) n.8921C>G c.3167C>G (p.Thr1056Ser) n.8813C>G n.1843C>G n.4251C>G n.2066C>G c.1694C>G (p.Thr565Ser) c.25334C>G (p.Thr8445Ser) c.25322C>G (p.Thr8441Ser) c.25313C>G (p.Thr8438Ser) c.25283C>G (p.Thr8428Ser) c.25319C>G (p.Thr8440Ser) c.25265C>G (p.Thr8422Ser) c.25262C>G (p.Thr8421Ser) c.25250C>G (p.Thr8417Ser) c.25193C>G (p.Thr8398Ser) c.25181C>G (p.Thr8394Ser) c.25178C>G (p.Thr8393Ser) c.25175C>G (p.Thr8392Ser) c.25331C>G (p.Thr8444Ser) c.25169C>G (p.Thr8390Ser) c.23609C>G (p.Thr7870Ser) c.23102C>G (p.Thr7701Ser) c.18569C>G (p.Thr6190Ser) c.1835C>G (p.Thr612Ser) c.25307C>G (p.Thr8436Ser) c.25256C>G (p.Thr8419Ser) c.25109C>G (p.Thr8370Ser) | |
| 6 | g.152141220G= | CA1673207594 | SYNE1 | c.1763C= (p.Thr588=) c.25229C= (p.Thr8410=) c.25085C= (p.Thr8362=) c.631C= c.964C= c.891-1059C= c.1001C= (p.Thr334=) c.24014C= (p.Thr8005=) n.1977C= c.4064C= (p.Thr1355=) n.8921C= c.3167C= (p.Thr1056=) n.8813C= n.1843C= n.4251C= n.2066C= c.1694C= (p.Thr565=) c.25334C= (p.Thr8445=) c.25322C= (p.Thr8441=) c.25313C= (p.Thr8438=) c.25283C= (p.Thr8428=) c.25319C= (p.Thr8440=) c.25265C= (p.Thr8422=) c.25262C= (p.Thr8421=) c.25250C= (p.Thr8417=) c.25193C= (p.Thr8398=) c.25181C= (p.Thr8394=) c.25178C= (p.Thr8393=) c.25175C= (p.Thr8392=) c.25331C= (p.Thr8444=) c.25169C= (p.Thr8390=) c.23609C= (p.Thr7870=) c.23102C= (p.Thr7701=) c.18569C= (p.Thr6190=) c.1835C= (p.Thr612=) c.25307C= (p.Thr8436=) c.25256C= (p.Thr8419=) c.25109C= (p.Thr8370=) | |
| 6 | g.152141220G>T | CA366081286 | SYNE1 | c.1763C>A (p.Thr588Asn) c.25229C>A (p.Thr8410Asn) c.25085C>A (p.Thr8362Asn) c.631C>A c.964C>A c.891-1059C>A c.1001C>A (p.Thr334Asn) c.24014C>A (p.Thr8005Asn) n.1977C>A c.4064C>A (p.Thr1355Asn) n.8921C>A c.3167C>A (p.Thr1056Asn) n.8813C>A n.1843C>A n.4251C>A n.2066C>A c.1694C>A (p.Thr565Asn) c.25334C>A (p.Thr8445Asn) c.25322C>A (p.Thr8441Asn) c.25313C>A (p.Thr8438Asn) c.25283C>A (p.Thr8428Asn) c.25319C>A (p.Thr8440Asn) c.25265C>A (p.Thr8422Asn) c.25262C>A (p.Thr8421Asn) c.25250C>A (p.Thr8417Asn) c.25193C>A (p.Thr8398Asn) c.25181C>A (p.Thr8394Asn) c.25178C>A (p.Thr8393Asn) c.25175C>A (p.Thr8392Asn) c.25331C>A (p.Thr8444Asn) c.25169C>A (p.Thr8390Asn) c.23609C>A (p.Thr7870Asn) c.23102C>A (p.Thr7701Asn) c.18569C>A (p.Thr6190Asn) c.1835C>A (p.Thr612Asn) c.25307C>A (p.Thr8436Asn) c.25256C>A (p.Thr8419Asn) c.25109C>A (p.Thr8370Asn) | dbSNP gnomAD v4 |
| 6 | g.152141221T>A | CA366081293 | SYNE1 | c.1762A>T (p.Thr588Ser) c.25228A>T (p.Thr8410Ser) c.25084A>T (p.Thr8362Ser) c.630A>T c.963A>T c.891-1060A>T c.1000A>T (p.Thr334Ser) c.24013A>T (p.Thr8005Ser) n.1976A>T c.4063A>T (p.Thr1355Ser) n.8920A>T c.3166A>T (p.Thr1056Ser) n.8812A>T n.1842A>T n.4250A>T n.2065A>T c.1693A>T (p.Thr565Ser) c.25333A>T (p.Thr8445Ser) c.25321A>T (p.Thr8441Ser) c.25312A>T (p.Thr8438Ser) c.25282A>T (p.Thr8428Ser) c.25318A>T (p.Thr8440Ser) c.25264A>T (p.Thr8422Ser) c.25261A>T (p.Thr8421Ser) c.25249A>T (p.Thr8417Ser) c.25192A>T (p.Thr8398Ser) c.25180A>T (p.Thr8394Ser) c.25177A>T (p.Thr8393Ser) c.25174A>T (p.Thr8392Ser) c.25330A>T (p.Thr8444Ser) c.25168A>T (p.Thr8390Ser) c.23608A>T (p.Thr7870Ser) c.23101A>T (p.Thr7701Ser) c.18568A>T (p.Thr6190Ser) c.1834A>T (p.Thr612Ser) c.25306A>T (p.Thr8436Ser) c.25255A>T (p.Thr8419Ser) c.25108A>T (p.Thr8370Ser) | gnomAD v4 |
| 6 | g.152141221T>C | CA366081295 | SYNE1 | c.1762A>G (p.Thr588Ala) c.25228A>G (p.Thr8410Ala) c.25084A>G (p.Thr8362Ala) c.630A>G c.963A>G c.891-1060A>G c.1000A>G (p.Thr334Ala) c.24013A>G (p.Thr8005Ala) n.1976A>G c.4063A>G (p.Thr1355Ala) n.8920A>G c.3166A>G (p.Thr1056Ala) n.8812A>G n.1842A>G n.4250A>G n.2065A>G c.1693A>G (p.Thr565Ala) c.25333A>G (p.Thr8445Ala) c.25321A>G (p.Thr8441Ala) c.25312A>G (p.Thr8438Ala) c.25282A>G (p.Thr8428Ala) c.25318A>G (p.Thr8440Ala) c.25264A>G (p.Thr8422Ala) c.25261A>G (p.Thr8421Ala) c.25249A>G (p.Thr8417Ala) c.25192A>G (p.Thr8398Ala) c.25180A>G (p.Thr8394Ala) c.25177A>G (p.Thr8393Ala) c.25174A>G (p.Thr8392Ala) c.25330A>G (p.Thr8444Ala) c.25168A>G (p.Thr8390Ala) c.23608A>G (p.Thr7870Ala) c.23101A>G (p.Thr7701Ala) c.18568A>G (p.Thr6190Ala) c.1834A>G (p.Thr612Ala) c.25306A>G (p.Thr8436Ala) c.25255A>G (p.Thr8419Ala) c.25108A>G (p.Thr8370Ala) | |
| 6 | g.152141221T>G | CA366081297 | SYNE1 | c.1762A>C (p.Thr588Pro) c.25228A>C (p.Thr8410Pro) c.25084A>C (p.Thr8362Pro) c.630A>C c.963A>C c.891-1060A>C c.1000A>C (p.Thr334Pro) c.24013A>C (p.Thr8005Pro) n.1976A>C c.4063A>C (p.Thr1355Pro) n.8920A>C c.3166A>C (p.Thr1056Pro) n.8812A>C n.1842A>C n.4250A>C n.2065A>C c.1693A>C (p.Thr565Pro) c.25333A>C (p.Thr8445Pro) c.25321A>C (p.Thr8441Pro) c.25312A>C (p.Thr8438Pro) c.25282A>C (p.Thr8428Pro) c.25318A>C (p.Thr8440Pro) c.25264A>C (p.Thr8422Pro) c.25261A>C (p.Thr8421Pro) c.25249A>C (p.Thr8417Pro) c.25192A>C (p.Thr8398Pro) c.25180A>C (p.Thr8394Pro) c.25177A>C (p.Thr8393Pro) c.25174A>C (p.Thr8392Pro) c.25330A>C (p.Thr8444Pro) c.25168A>C (p.Thr8390Pro) c.23608A>C (p.Thr7870Pro) c.23101A>C (p.Thr7701Pro) c.18568A>C (p.Thr6190Pro) c.1834A>C (p.Thr612Pro) c.25306A>C (p.Thr8436Pro) c.25255A>C (p.Thr8419Pro) c.25108A>C (p.Thr8370Pro) | |
| 6 | g.152141222A>C | CA366081299 | SYNE1 | c.1761T>G (p.Ser587Arg) c.25227T>G (p.Ser8409Arg) c.25083T>G (p.Ser8361Arg) c.629T>G c.962T>G c.891-1061T>G c.999T>G (p.Ser333Arg) c.24012T>G (p.Ser8004Arg) n.1975T>G c.4062T>G (p.Ser1354Arg) n.8919T>G c.3165T>G (p.Ser1055Arg) n.8811T>G n.1841T>G n.4249T>G n.2064T>G c.1692T>G (p.Ser564Arg) c.25332T>G (p.Ser8444Arg) c.25320T>G (p.Ser8440Arg) c.25311T>G (p.Ser8437Arg) c.25281T>G (p.Ser8427Arg) c.25317T>G (p.Ser8439Arg) c.25263T>G (p.Ser8421Arg) c.25260T>G (p.Ser8420Arg) c.25248T>G (p.Ser8416Arg) c.25191T>G (p.Ser8397Arg) c.25179T>G (p.Ser8393Arg) c.25176T>G (p.Ser8392Arg) c.25173T>G (p.Ser8391Arg) c.25329T>G (p.Ser8443Arg) c.25167T>G (p.Ser8389Arg) c.23607T>G (p.Ser7869Arg) c.23100T>G (p.Ser7700Arg) c.18567T>G (p.Ser6189Arg) c.1833T>G (p.Ser611Arg) c.25305T>G (p.Ser8435Arg) c.25254T>G (p.Ser8418Arg) c.25107T>G (p.Ser8369Arg) | |
| 6 | g.152141222A>G | CA452747074 | SYNE1 | c.1761T>C (p.Ser587=) c.25227T>C (p.Ser8409=) c.25083T>C (p.Ser8361=) c.629T>C c.962T>C c.891-1061T>C c.999T>C (p.Ser333=) c.24012T>C (p.Ser8004=) n.1975T>C c.4062T>C (p.Ser1354=) n.8919T>C c.3165T>C (p.Ser1055=) n.8811T>C n.1841T>C n.4249T>C n.2064T>C c.1692T>C (p.Ser564=) c.25332T>C (p.Ser8444=) c.25320T>C (p.Ser8440=) c.25311T>C (p.Ser8437=) c.25281T>C (p.Ser8427=) c.25317T>C (p.Ser8439=) c.25263T>C (p.Ser8421=) c.25260T>C (p.Ser8420=) c.25248T>C (p.Ser8416=) c.25191T>C (p.Ser8397=) c.25179T>C (p.Ser8393=) c.25176T>C (p.Ser8392=) c.25173T>C (p.Ser8391=) c.25329T>C (p.Ser8443=) c.25167T>C (p.Ser8389=) c.23607T>C (p.Ser7869=) c.23100T>C (p.Ser7700=) c.18567T>C (p.Ser6189=) c.1833T>C (p.Ser611=) c.25305T>C (p.Ser8435=) c.25254T>C (p.Ser8418=) c.25107T>C (p.Ser8369=) | gnomAD v4 |
| 6 | g.152141222A>T | CA366081301 | SYNE1 | c.1761T>A (p.Ser587Arg) c.25227T>A (p.Ser8409Arg) c.25083T>A (p.Ser8361Arg) c.629T>A c.962T>A c.891-1061T>A c.999T>A (p.Ser333Arg) c.24012T>A (p.Ser8004Arg) n.1975T>A c.4062T>A (p.Ser1354Arg) n.8919T>A c.3165T>A (p.Ser1055Arg) n.8811T>A n.1841T>A n.4249T>A n.2064T>A c.1692T>A (p.Ser564Arg) c.25332T>A (p.Ser8444Arg) c.25320T>A (p.Ser8440Arg) c.25311T>A (p.Ser8437Arg) c.25281T>A (p.Ser8427Arg) c.25317T>A (p.Ser8439Arg) c.25263T>A (p.Ser8421Arg) c.25260T>A (p.Ser8420Arg) c.25248T>A (p.Ser8416Arg) c.25191T>A (p.Ser8397Arg) c.25179T>A (p.Ser8393Arg) c.25176T>A (p.Ser8392Arg) c.25173T>A (p.Ser8391Arg) c.25329T>A (p.Ser8443Arg) c.25167T>A (p.Ser8389Arg) c.23607T>A (p.Ser7869Arg) c.23100T>A (p.Ser7700Arg) c.18567T>A (p.Ser6189Arg) c.1833T>A (p.Ser611Arg) c.25305T>A (p.Ser8435Arg) c.25254T>A (p.Ser8418Arg) c.25107T>A (p.Ser8369Arg) | |
| 6 | g.152141223C>A | CA366081308 | SYNE1 | c.1760G>T (p.Ser587Ile) c.25226G>T (p.Ser8409Ile) c.25082G>T (p.Ser8361Ile) c.628G>T c.961G>T c.891-1062G>T c.998G>T (p.Ser333Ile) c.24011G>T (p.Ser8004Ile) n.1974G>T c.4061G>T (p.Ser1354Ile) n.8918G>T c.3164G>T (p.Ser1055Ile) n.8810G>T n.1840G>T n.4248G>T n.2063G>T c.1691G>T (p.Ser564Ile) c.25331G>T (p.Ser8444Ile) c.25319G>T (p.Ser8440Ile) c.25310G>T (p.Ser8437Ile) c.25280G>T (p.Ser8427Ile) c.25316G>T (p.Ser8439Ile) c.25262G>T (p.Ser8421Ile) c.25259G>T (p.Ser8420Ile) c.25247G>T (p.Ser8416Ile) c.25190G>T (p.Ser8397Ile) c.25178G>T (p.Ser8393Ile) c.25175G>T (p.Ser8392Ile) c.25172G>T (p.Ser8391Ile) c.25328G>T (p.Ser8443Ile) c.25166G>T (p.Ser8389Ile) c.23606G>T (p.Ser7869Ile) c.23099G>T (p.Ser7700Ile) c.18566G>T (p.Ser6189Ile) c.1832G>T (p.Ser611Ile) c.25304G>T (p.Ser8435Ile) c.25253G>T (p.Ser8418Ile) c.25106G>T (p.Ser8369Ile) | |
| 6 | g.152141223C>G | CA366081303 | SYNE1 | c.1760G>C (p.Ser587Thr) c.25226G>C (p.Ser8409Thr) c.25082G>C (p.Ser8361Thr) c.628G>C c.961G>C c.891-1062G>C c.998G>C (p.Ser333Thr) c.24011G>C (p.Ser8004Thr) n.1974G>C c.4061G>C (p.Ser1354Thr) n.8918G>C c.3164G>C (p.Ser1055Thr) n.8810G>C n.1840G>C n.4248G>C n.2063G>C c.1691G>C (p.Ser564Thr) c.25331G>C (p.Ser8444Thr) c.25319G>C (p.Ser8440Thr) c.25310G>C (p.Ser8437Thr) c.25280G>C (p.Ser8427Thr) c.25316G>C (p.Ser8439Thr) c.25262G>C (p.Ser8421Thr) c.25259G>C (p.Ser8420Thr) c.25247G>C (p.Ser8416Thr) c.25190G>C (p.Ser8397Thr) c.25178G>C (p.Ser8393Thr) c.25175G>C (p.Ser8392Thr) c.25172G>C (p.Ser8391Thr) c.25328G>C (p.Ser8443Thr) c.25166G>C (p.Ser8389Thr) c.23606G>C (p.Ser7869Thr) c.23099G>C (p.Ser7700Thr) c.18566G>C (p.Ser6189Thr) c.1832G>C (p.Ser611Thr) c.25304G>C (p.Ser8435Thr) c.25253G>C (p.Ser8418Thr) c.25106G>C (p.Ser8369Thr) | gnomAD v4 |
| 6 | g.152141223C>T | CA366081306 | SYNE1 | c.1760G>A (p.Ser587Asn) c.25226G>A (p.Ser8409Asn) c.25082G>A (p.Ser8361Asn) c.628G>A c.961G>A c.891-1062G>A c.998G>A (p.Ser333Asn) c.24011G>A (p.Ser8004Asn) n.1974G>A c.4061G>A (p.Ser1354Asn) n.8918G>A c.3164G>A (p.Ser1055Asn) n.8810G>A n.1840G>A n.4248G>A n.2063G>A c.1691G>A (p.Ser564Asn) c.25331G>A (p.Ser8444Asn) c.25319G>A (p.Ser8440Asn) c.25310G>A (p.Ser8437Asn) c.25280G>A (p.Ser8427Asn) c.25316G>A (p.Ser8439Asn) c.25262G>A (p.Ser8421Asn) c.25259G>A (p.Ser8420Asn) c.25247G>A (p.Ser8416Asn) c.25190G>A (p.Ser8397Asn) c.25178G>A (p.Ser8393Asn) c.25175G>A (p.Ser8392Asn) c.25172G>A (p.Ser8391Asn) c.25328G>A (p.Ser8443Asn) c.25166G>A (p.Ser8389Asn) c.23606G>A (p.Ser7869Asn) c.23099G>A (p.Ser7700Asn) c.18566G>A (p.Ser6189Asn) c.1832G>A (p.Ser611Asn) c.25304G>A (p.Ser8435Asn) c.25253G>A (p.Ser8418Asn) c.25106G>A (p.Ser8369Asn) | gnomAD v4 |
| 6 | g.152141224T>A | CA366081310 | SYNE1 | c.1759A>T (p.Ser587Cys) c.25225A>T (p.Ser8409Cys) c.25081A>T (p.Ser8361Cys) c.627A>T c.960A>T c.891-1063A>T c.997A>T (p.Ser333Cys) c.24010A>T (p.Ser8004Cys) n.1973A>T c.4060A>T (p.Ser1354Cys) n.8917A>T c.3163A>T (p.Ser1055Cys) n.8809A>T n.1839A>T n.4247A>T n.2062A>T c.1690A>T (p.Ser564Cys) c.25330A>T (p.Ser8444Cys) c.25318A>T (p.Ser8440Cys) c.25309A>T (p.Ser8437Cys) c.25279A>T (p.Ser8427Cys) c.25315A>T (p.Ser8439Cys) c.25261A>T (p.Ser8421Cys) c.25258A>T (p.Ser8420Cys) c.25246A>T (p.Ser8416Cys) c.25189A>T (p.Ser8397Cys) c.25177A>T (p.Ser8393Cys) c.25174A>T (p.Ser8392Cys) c.25171A>T (p.Ser8391Cys) c.25327A>T (p.Ser8443Cys) c.25165A>T (p.Ser8389Cys) c.23605A>T (p.Ser7869Cys) c.23098A>T (p.Ser7700Cys) c.18565A>T (p.Ser6189Cys) c.1831A>T (p.Ser611Cys) c.25303A>T (p.Ser8435Cys) c.25252A>T (p.Ser8418Cys) c.25105A>T (p.Ser8369Cys) | |
| 6 | g.152141224T>C | CA4052896 | SYNE1 | c.1759A>G (p.Ser587Gly) c.25225A>G (p.Ser8409Gly) c.25081A>G (p.Ser8361Gly) c.627A>G c.960A>G c.891-1063A>G c.997A>G (p.Ser333Gly) c.24010A>G (p.Ser8004Gly) n.1973A>G c.4060A>G (p.Ser1354Gly) n.8917A>G c.3163A>G (p.Ser1055Gly) n.8809A>G n.1839A>G n.4247A>G n.2062A>G c.1690A>G (p.Ser564Gly) c.25330A>G (p.Ser8444Gly) c.25318A>G (p.Ser8440Gly) c.25309A>G (p.Ser8437Gly) c.25279A>G (p.Ser8427Gly) c.25315A>G (p.Ser8439Gly) c.25261A>G (p.Ser8421Gly) c.25258A>G (p.Ser8420Gly) c.25246A>G (p.Ser8416Gly) c.25189A>G (p.Ser8397Gly) c.25177A>G (p.Ser8393Gly) c.25174A>G (p.Ser8392Gly) c.25171A>G (p.Ser8391Gly) c.25327A>G (p.Ser8443Gly) c.25165A>G (p.Ser8389Gly) c.23605A>G (p.Ser7869Gly) c.23098A>G (p.Ser7700Gly) c.18565A>G (p.Ser6189Gly) c.1831A>G (p.Ser611Gly) c.25303A>G (p.Ser8435Gly) c.25252A>G (p.Ser8418Gly) c.25105A>G (p.Ser8369Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141224T>G | CA366081312 | SYNE1 | c.1759A>C (p.Ser587Arg) c.25225A>C (p.Ser8409Arg) c.25081A>C (p.Ser8361Arg) c.627A>C c.960A>C c.891-1063A>C c.997A>C (p.Ser333Arg) c.24010A>C (p.Ser8004Arg) n.1973A>C c.4060A>C (p.Ser1354Arg) n.8917A>C c.3163A>C (p.Ser1055Arg) n.8809A>C n.1839A>C n.4247A>C n.2062A>C c.1690A>C (p.Ser564Arg) c.25330A>C (p.Ser8444Arg) c.25318A>C (p.Ser8440Arg) c.25309A>C (p.Ser8437Arg) c.25279A>C (p.Ser8427Arg) c.25315A>C (p.Ser8439Arg) c.25261A>C (p.Ser8421Arg) c.25258A>C (p.Ser8420Arg) c.25246A>C (p.Ser8416Arg) c.25189A>C (p.Ser8397Arg) c.25177A>C (p.Ser8393Arg) c.25174A>C (p.Ser8392Arg) c.25171A>C (p.Ser8391Arg) c.25327A>C (p.Ser8443Arg) c.25165A>C (p.Ser8389Arg) c.23605A>C (p.Ser7869Arg) c.23098A>C (p.Ser7700Arg) c.18565A>C (p.Ser6189Arg) c.1831A>C (p.Ser611Arg) c.25303A>C (p.Ser8435Arg) c.25252A>C (p.Ser8418Arg) c.25105A>C (p.Ser8369Arg) | |
| 6 | g.152141224T= | CA1673207599 | SYNE1 | c.1759A= (p.Ser587=) c.25225A= (p.Ser8409=) c.25081A= (p.Ser8361=) c.627A= c.960A= c.891-1063A= c.997A= (p.Ser333=) c.24010A= (p.Ser8004=) n.1973A= c.4060A= (p.Ser1354=) n.8917A= c.3163A= (p.Ser1055=) n.8809A= n.1839A= n.4247A= n.2062A= c.1690A= (p.Ser564=) c.25330A= (p.Ser8444=) c.25318A= (p.Ser8440=) c.25309A= (p.Ser8437=) c.25279A= (p.Ser8427=) c.25315A= (p.Ser8439=) c.25261A= (p.Ser8421=) c.25258A= (p.Ser8420=) c.25246A= (p.Ser8416=) c.25189A= (p.Ser8397=) c.25177A= (p.Ser8393=) c.25174A= (p.Ser8392=) c.25171A= (p.Ser8391=) c.25327A= (p.Ser8443=) c.25165A= (p.Ser8389=) c.23605A= (p.Ser7869=) c.23098A= (p.Ser7700=) c.18565A= (p.Ser6189=) c.1831A= (p.Ser611=) c.25303A= (p.Ser8435=) c.25252A= (p.Ser8418=) c.25105A= (p.Ser8369=) | |
| 6 | g.152141225A>C | CA366081315 | SYNE1 | c.1758T>G (p.His586Gln) c.25224T>G (p.His8408Gln) c.25080T>G (p.His8360Gln) c.626T>G c.959T>G c.891-1064T>G c.996T>G (p.His332Gln) c.24009T>G (p.His8003Gln) n.1972T>G c.4059T>G (p.His1353Gln) n.8916T>G c.3162T>G (p.His1054Gln) n.8808T>G n.1838T>G n.4246T>G n.2061T>G c.1689T>G (p.His563Gln) c.25329T>G (p.His8443Gln) c.25317T>G (p.His8439Gln) c.25308T>G (p.His8436Gln) c.25278T>G (p.His8426Gln) c.25314T>G (p.His8438Gln) c.25260T>G (p.His8420Gln) c.25257T>G (p.His8419Gln) c.25245T>G (p.His8415Gln) c.25188T>G (p.His8396Gln) c.25176T>G (p.His8392Gln) c.25173T>G (p.His8391Gln) c.25170T>G (p.His8390Gln) c.25326T>G (p.His8442Gln) c.25164T>G (p.His8388Gln) c.23604T>G (p.His7868Gln) c.23097T>G (p.His7699Gln) c.18564T>G (p.His6188Gln) c.1830T>G (p.His610Gln) c.25302T>G (p.His8434Gln) c.25251T>G (p.His8417Gln) c.25104T>G (p.His8368Gln) | |
| 6 | g.152141225A>G | CA452747078 | SYNE1 | c.1758T>C (p.His586=) c.25224T>C (p.His8408=) c.25080T>C (p.His8360=) c.626T>C c.959T>C c.891-1064T>C c.996T>C (p.His332=) c.24009T>C (p.His8003=) n.1972T>C c.4059T>C (p.His1353=) n.8916T>C c.3162T>C (p.His1054=) n.8808T>C n.1838T>C n.4246T>C n.2061T>C c.1689T>C (p.His563=) c.25329T>C (p.His8443=) c.25317T>C (p.His8439=) c.25308T>C (p.His8436=) c.25278T>C (p.His8426=) c.25314T>C (p.His8438=) c.25260T>C (p.His8420=) c.25257T>C (p.His8419=) c.25245T>C (p.His8415=) c.25188T>C (p.His8396=) c.25176T>C (p.His8392=) c.25173T>C (p.His8391=) c.25170T>C (p.His8390=) c.25326T>C (p.His8442=) c.25164T>C (p.His8388=) c.23604T>C (p.His7868=) c.23097T>C (p.His7699=) c.18564T>C (p.His6188=) c.1830T>C (p.His610=) c.25302T>C (p.His8434=) c.25251T>C (p.His8417=) c.25104T>C (p.His8368=) | |
| 6 | g.152141225A>T | CA366081317 | SYNE1 | c.1758T>A (p.His586Gln) c.25224T>A (p.His8408Gln) c.25080T>A (p.His8360Gln) c.626T>A c.959T>A c.891-1064T>A c.996T>A (p.His332Gln) c.24009T>A (p.His8003Gln) n.1972T>A c.4059T>A (p.His1353Gln) n.8916T>A c.3162T>A (p.His1054Gln) n.8808T>A n.1838T>A n.4246T>A n.2061T>A c.1689T>A (p.His563Gln) c.25329T>A (p.His8443Gln) c.25317T>A (p.His8439Gln) c.25308T>A (p.His8436Gln) c.25278T>A (p.His8426Gln) c.25314T>A (p.His8438Gln) c.25260T>A (p.His8420Gln) c.25257T>A (p.His8419Gln) c.25245T>A (p.His8415Gln) c.25188T>A (p.His8396Gln) c.25176T>A (p.His8392Gln) c.25173T>A (p.His8391Gln) c.25170T>A (p.His8390Gln) c.25326T>A (p.His8442Gln) c.25164T>A (p.His8388Gln) c.23604T>A (p.His7868Gln) c.23097T>A (p.His7699Gln) c.18564T>A (p.His6188Gln) c.1830T>A (p.His610Gln) c.25302T>A (p.His8434Gln) c.25251T>A (p.His8417Gln) c.25104T>A (p.His8368Gln) | |
| 6 | g.152141226T>A | CA366081322 | SYNE1 | c.1757A>T (p.His586Leu) c.25223A>T (p.His8408Leu) c.25079A>T (p.His8360Leu) c.625A>T c.958A>T c.891-1065A>T c.995A>T (p.His332Leu) c.24008A>T (p.His8003Leu) n.1971A>T c.4058A>T (p.His1353Leu) n.8915A>T c.3161A>T (p.His1054Leu) n.8807A>T n.1837A>T n.4245A>T n.2060A>T c.1688A>T (p.His563Leu) c.25328A>T (p.His8443Leu) c.25316A>T (p.His8439Leu) c.25307A>T (p.His8436Leu) c.25277A>T (p.His8426Leu) c.25313A>T (p.His8438Leu) c.25259A>T (p.His8420Leu) c.25256A>T (p.His8419Leu) c.25244A>T (p.His8415Leu) c.25187A>T (p.His8396Leu) c.25175A>T (p.His8392Leu) c.25172A>T (p.His8391Leu) c.25169A>T (p.His8390Leu) c.25325A>T (p.His8442Leu) c.25163A>T (p.His8388Leu) c.23603A>T (p.His7868Leu) c.23096A>T (p.His7699Leu) c.18563A>T (p.His6188Leu) c.1829A>T (p.His610Leu) c.25301A>T (p.His8434Leu) c.25250A>T (p.His8417Leu) c.25103A>T (p.His8368Leu) | gnomAD v4 |
| 6 | g.152141226T>C | CA4052897 | SYNE1 | c.1757A>G (p.His586Arg) c.25223A>G (p.His8408Arg) c.25079A>G (p.His8360Arg) c.625A>G c.958A>G c.891-1065A>G c.995A>G (p.His332Arg) c.24008A>G (p.His8003Arg) n.1971A>G c.4058A>G (p.His1353Arg) n.8915A>G c.3161A>G (p.His1054Arg) n.8807A>G n.1837A>G n.4245A>G n.2060A>G c.1688A>G (p.His563Arg) c.25328A>G (p.His8443Arg) c.25316A>G (p.His8439Arg) c.25307A>G (p.His8436Arg) c.25277A>G (p.His8426Arg) c.25313A>G (p.His8438Arg) c.25259A>G (p.His8420Arg) c.25256A>G (p.His8419Arg) c.25244A>G (p.His8415Arg) c.25187A>G (p.His8396Arg) c.25175A>G (p.His8392Arg) c.25172A>G (p.His8391Arg) c.25169A>G (p.His8390Arg) c.25325A>G (p.His8442Arg) c.25163A>G (p.His8388Arg) c.23603A>G (p.His7868Arg) c.23096A>G (p.His7699Arg) c.18563A>G (p.His6188Arg) c.1829A>G (p.His610Arg) c.25301A>G (p.His8434Arg) c.25250A>G (p.His8417Arg) c.25103A>G (p.His8368Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141226T>G | CA366081320 | SYNE1 | c.1757A>C (p.His586Pro) c.25223A>C (p.His8408Pro) c.25079A>C (p.His8360Pro) c.625A>C c.958A>C c.891-1065A>C c.995A>C (p.His332Pro) c.24008A>C (p.His8003Pro) n.1971A>C c.4058A>C (p.His1353Pro) n.8915A>C c.3161A>C (p.His1054Pro) n.8807A>C n.1837A>C n.4245A>C n.2060A>C c.1688A>C (p.His563Pro) c.25328A>C (p.His8443Pro) c.25316A>C (p.His8439Pro) c.25307A>C (p.His8436Pro) c.25277A>C (p.His8426Pro) c.25313A>C (p.His8438Pro) c.25259A>C (p.His8420Pro) c.25256A>C (p.His8419Pro) c.25244A>C (p.His8415Pro) c.25187A>C (p.His8396Pro) c.25175A>C (p.His8392Pro) c.25172A>C (p.His8391Pro) c.25169A>C (p.His8390Pro) c.25325A>C (p.His8442Pro) c.25163A>C (p.His8388Pro) c.23603A>C (p.His7868Pro) c.23096A>C (p.His7699Pro) c.18563A>C (p.His6188Pro) c.1829A>C (p.His610Pro) c.25301A>C (p.His8434Pro) c.25250A>C (p.His8417Pro) c.25103A>C (p.His8368Pro) | |
| 6 | g.152141226T= | CA1673207605 | SYNE1 | c.1757A= (p.His586=) c.25223A= (p.His8408=) c.25079A= (p.His8360=) c.625A= c.958A= c.891-1065A= c.995A= (p.His332=) c.24008A= (p.His8003=) n.1971A= c.4058A= (p.His1353=) n.8915A= c.3161A= (p.His1054=) n.8807A= n.1837A= n.4245A= n.2060A= c.1688A= (p.His563=) c.25328A= (p.His8443=) c.25316A= (p.His8439=) c.25307A= (p.His8436=) c.25277A= (p.His8426=) c.25313A= (p.His8438=) c.25259A= (p.His8420=) c.25256A= (p.His8419=) c.25244A= (p.His8415=) c.25187A= (p.His8396=) c.25175A= (p.His8392=) c.25172A= (p.His8391=) c.25169A= (p.His8390=) c.25325A= (p.His8442=) c.25163A= (p.His8388=) c.23603A= (p.His7868=) c.23096A= (p.His7699=) c.18563A= (p.His6188=) c.1829A= (p.His610=) c.25301A= (p.His8434=) c.25250A= (p.His8417=) c.25103A= (p.His8368=) | |
| 6 | g.152141227G>A | CA366081325 | SYNE1 | c.1756C>T (p.His586Tyr) c.25222C>T (p.His8408Tyr) c.25078C>T (p.His8360Tyr) c.624C>T c.957C>T c.891-1066C>T c.994C>T (p.His332Tyr) c.24007C>T (p.His8003Tyr) n.1970C>T c.4057C>T (p.His1353Tyr) n.8914C>T c.3160C>T (p.His1054Tyr) n.8806C>T n.1836C>T n.4244C>T n.2059C>T c.1687C>T (p.His563Tyr) c.25327C>T (p.His8443Tyr) c.25315C>T (p.His8439Tyr) c.25306C>T (p.His8436Tyr) c.25276C>T (p.His8426Tyr) c.25312C>T (p.His8438Tyr) c.25258C>T (p.His8420Tyr) c.25255C>T (p.His8419Tyr) c.25243C>T (p.His8415Tyr) c.25186C>T (p.His8396Tyr) c.25174C>T (p.His8392Tyr) c.25171C>T (p.His8391Tyr) c.25168C>T (p.His8390Tyr) c.25324C>T (p.His8442Tyr) c.25162C>T (p.His8388Tyr) c.23602C>T (p.His7868Tyr) c.23095C>T (p.His7699Tyr) c.18562C>T (p.His6188Tyr) c.1828C>T (p.His610Tyr) c.25300C>T (p.His8434Tyr) c.25249C>T (p.His8417Tyr) c.25102C>T (p.His8368Tyr) | |
| 6 | g.152141227G>C | CA366081328 | SYNE1 | c.1756C>G (p.His586Asp) c.25222C>G (p.His8408Asp) c.25078C>G (p.His8360Asp) c.624C>G c.957C>G c.891-1066C>G c.994C>G (p.His332Asp) c.24007C>G (p.His8003Asp) n.1970C>G c.4057C>G (p.His1353Asp) n.8914C>G c.3160C>G (p.His1054Asp) n.8806C>G n.1836C>G n.4244C>G n.2059C>G c.1687C>G (p.His563Asp) c.25327C>G (p.His8443Asp) c.25315C>G (p.His8439Asp) c.25306C>G (p.His8436Asp) c.25276C>G (p.His8426Asp) c.25312C>G (p.His8438Asp) c.25258C>G (p.His8420Asp) c.25255C>G (p.His8419Asp) c.25243C>G (p.His8415Asp) c.25186C>G (p.His8396Asp) c.25174C>G (p.His8392Asp) c.25171C>G (p.His8391Asp) c.25168C>G (p.His8390Asp) c.25324C>G (p.His8442Asp) c.25162C>G (p.His8388Asp) c.23602C>G (p.His7868Asp) c.23095C>G (p.His7699Asp) c.18562C>G (p.His6188Asp) c.1828C>G (p.His610Asp) c.25300C>G (p.His8434Asp) c.25249C>G (p.His8417Asp) c.25102C>G (p.His8368Asp) | |
| 6 | g.152141227G>T | CA366081327 | SYNE1 | c.1756C>A (p.His586Asn) c.25222C>A (p.His8408Asn) c.25078C>A (p.His8360Asn) c.624C>A c.957C>A c.891-1066C>A c.994C>A (p.His332Asn) c.24007C>A (p.His8003Asn) n.1970C>A c.4057C>A (p.His1353Asn) n.8914C>A c.3160C>A (p.His1054Asn) n.8806C>A n.1836C>A n.4244C>A n.2059C>A c.1687C>A (p.His563Asn) c.25327C>A (p.His8443Asn) c.25315C>A (p.His8439Asn) c.25306C>A (p.His8436Asn) c.25276C>A (p.His8426Asn) c.25312C>A (p.His8438Asn) c.25258C>A (p.His8420Asn) c.25255C>A (p.His8419Asn) c.25243C>A (p.His8415Asn) c.25186C>A (p.His8396Asn) c.25174C>A (p.His8392Asn) c.25171C>A (p.His8391Asn) c.25168C>A (p.His8390Asn) c.25324C>A (p.His8442Asn) c.25162C>A (p.His8388Asn) c.23602C>A (p.His7868Asn) c.23095C>A (p.His7699Asn) c.18562C>A (p.His6188Asn) c.1828C>A (p.His610Asn) c.25300C>A (p.His8434Asn) c.25249C>A (p.His8417Asn) c.25102C>A (p.His8368Asn) | gnomAD v4 |
| 6 | g.152141228C>A | CA452747080 | SYNE1 | c.1755G>T (p.Leu585=) c.25221G>T (p.Leu8407=) c.25077G>T (p.Leu8359=) c.623G>T c.956G>T c.891-1067G>T c.993G>T (p.Leu331=) c.24006G>T (p.Leu8002=) n.1969G>T c.4056G>T (p.Leu1352=) n.8913G>T c.3159G>T (p.Leu1053=) n.8805G>T n.1835G>T n.4243G>T n.2058G>T c.1686G>T (p.Leu562=) c.25326G>T (p.Leu8442=) c.25314G>T (p.Leu8438=) c.25305G>T (p.Leu8435=) c.25275G>T (p.Leu8425=) c.25311G>T (p.Leu8437=) c.25257G>T (p.Leu8419=) c.25254G>T (p.Leu8418=) c.25242G>T (p.Leu8414=) c.25185G>T (p.Leu8395=) c.25173G>T (p.Leu8391=) c.25170G>T (p.Leu8390=) c.25167G>T (p.Leu8389=) c.25323G>T (p.Leu8441=) c.25161G>T (p.Leu8387=) c.23601G>T (p.Leu7867=) c.23094G>T (p.Leu7698=) c.18561G>T (p.Leu6187=) c.1827G>T (p.Leu609=) c.25299G>T (p.Leu8433=) c.25248G>T (p.Leu8416=) c.25101G>T (p.Leu8367=) | |
| 6 | g.152141228C>G | CA452747081 | SYNE1 | c.1755G>C (p.Leu585=) c.25221G>C (p.Leu8407=) c.25077G>C (p.Leu8359=) c.623G>C c.956G>C c.891-1067G>C c.993G>C (p.Leu331=) c.24006G>C (p.Leu8002=) n.1969G>C c.4056G>C (p.Leu1352=) n.8913G>C c.3159G>C (p.Leu1053=) n.8805G>C n.1835G>C n.4243G>C n.2058G>C c.1686G>C (p.Leu562=) c.25326G>C (p.Leu8442=) c.25314G>C (p.Leu8438=) c.25305G>C (p.Leu8435=) c.25275G>C (p.Leu8425=) c.25311G>C (p.Leu8437=) c.25257G>C (p.Leu8419=) c.25254G>C (p.Leu8418=) c.25242G>C (p.Leu8414=) c.25185G>C (p.Leu8395=) c.25173G>C (p.Leu8391=) c.25170G>C (p.Leu8390=) c.25167G>C (p.Leu8389=) c.25323G>C (p.Leu8441=) c.25161G>C (p.Leu8387=) c.23601G>C (p.Leu7867=) c.23094G>C (p.Leu7698=) c.18561G>C (p.Leu6187=) c.1827G>C (p.Leu609=) c.25299G>C (p.Leu8433=) c.25248G>C (p.Leu8416=) c.25101G>C (p.Leu8367=) | |
| 6 | g.152141228C>T | CA452747082 | SYNE1 | c.1755G>A (p.Leu585=) c.25221G>A (p.Leu8407=) c.25077G>A (p.Leu8359=) c.623G>A c.956G>A c.891-1067G>A c.993G>A (p.Leu331=) c.24006G>A (p.Leu8002=) n.1969G>A c.4056G>A (p.Leu1352=) n.8913G>A c.3159G>A (p.Leu1053=) n.8805G>A n.1835G>A n.4243G>A n.2058G>A c.1686G>A (p.Leu562=) c.25326G>A (p.Leu8442=) c.25314G>A (p.Leu8438=) c.25305G>A (p.Leu8435=) c.25275G>A (p.Leu8425=) c.25311G>A (p.Leu8437=) c.25257G>A (p.Leu8419=) c.25254G>A (p.Leu8418=) c.25242G>A (p.Leu8414=) c.25185G>A (p.Leu8395=) c.25173G>A (p.Leu8391=) c.25170G>A (p.Leu8390=) c.25167G>A (p.Leu8389=) c.25323G>A (p.Leu8441=) c.25161G>A (p.Leu8387=) c.23601G>A (p.Leu7867=) c.23094G>A (p.Leu7698=) c.18561G>A (p.Leu6187=) c.1827G>A (p.Leu609=) c.25299G>A (p.Leu8433=) c.25248G>A (p.Leu8416=) c.25101G>A (p.Leu8367=) | gnomAD v4 |
| 6 | g.152141229A>C | CA366081332 | SYNE1 | c.1754T>G (p.Leu585Arg) c.25220T>G (p.Leu8407Arg) c.25076T>G (p.Leu8359Arg) c.622T>G c.955T>G c.891-1068T>G c.992T>G (p.Leu331Arg) c.24005T>G (p.Leu8002Arg) n.1968T>G c.4055T>G (p.Leu1352Arg) n.8912T>G c.3158T>G (p.Leu1053Arg) n.8804T>G n.1834T>G n.4242T>G n.2057T>G c.1685T>G (p.Leu562Arg) c.25325T>G (p.Leu8442Arg) c.25313T>G (p.Leu8438Arg) c.25304T>G (p.Leu8435Arg) c.25274T>G (p.Leu8425Arg) c.25310T>G (p.Leu8437Arg) c.25256T>G (p.Leu8419Arg) c.25253T>G (p.Leu8418Arg) c.25241T>G (p.Leu8414Arg) c.25184T>G (p.Leu8395Arg) c.25172T>G (p.Leu8391Arg) c.25169T>G (p.Leu8390Arg) c.25166T>G (p.Leu8389Arg) c.25322T>G (p.Leu8441Arg) c.25160T>G (p.Leu8387Arg) c.23600T>G (p.Leu7867Arg) c.23093T>G (p.Leu7698Arg) c.18560T>G (p.Leu6187Arg) c.1826T>G (p.Leu609Arg) c.25298T>G (p.Leu8433Arg) c.25247T>G (p.Leu8416Arg) c.25100T>G (p.Leu8367Arg) | |
| 6 | g.152141229A>G | CA366081333 | SYNE1 | c.1754T>C (p.Leu585Pro) c.25220T>C (p.Leu8407Pro) c.25076T>C (p.Leu8359Pro) c.622T>C c.955T>C c.891-1068T>C c.992T>C (p.Leu331Pro) c.24005T>C (p.Leu8002Pro) n.1968T>C c.4055T>C (p.Leu1352Pro) n.8912T>C c.3158T>C (p.Leu1053Pro) n.8804T>C n.1834T>C n.4242T>C n.2057T>C c.1685T>C (p.Leu562Pro) c.25325T>C (p.Leu8442Pro) c.25313T>C (p.Leu8438Pro) c.25304T>C (p.Leu8435Pro) c.25274T>C (p.Leu8425Pro) c.25310T>C (p.Leu8437Pro) c.25256T>C (p.Leu8419Pro) c.25253T>C (p.Leu8418Pro) c.25241T>C (p.Leu8414Pro) c.25184T>C (p.Leu8395Pro) c.25172T>C (p.Leu8391Pro) c.25169T>C (p.Leu8390Pro) c.25166T>C (p.Leu8389Pro) c.25322T>C (p.Leu8441Pro) c.25160T>C (p.Leu8387Pro) c.23600T>C (p.Leu7867Pro) c.23093T>C (p.Leu7698Pro) c.18560T>C (p.Leu6187Pro) c.1826T>C (p.Leu609Pro) c.25298T>C (p.Leu8433Pro) c.25247T>C (p.Leu8416Pro) c.25100T>C (p.Leu8367Pro) | |
| 6 | g.152141229A>T | CA366081335 | SYNE1 | c.1754T>A (p.Leu585Gln) c.25220T>A (p.Leu8407Gln) c.25076T>A (p.Leu8359Gln) c.622T>A c.955T>A c.891-1068T>A c.992T>A (p.Leu331Gln) c.24005T>A (p.Leu8002Gln) n.1968T>A c.4055T>A (p.Leu1352Gln) n.8912T>A c.3158T>A (p.Leu1053Gln) n.8804T>A n.1834T>A n.4242T>A n.2057T>A c.1685T>A (p.Leu562Gln) c.25325T>A (p.Leu8442Gln) c.25313T>A (p.Leu8438Gln) c.25304T>A (p.Leu8435Gln) c.25274T>A (p.Leu8425Gln) c.25310T>A (p.Leu8437Gln) c.25256T>A (p.Leu8419Gln) c.25253T>A (p.Leu8418Gln) c.25241T>A (p.Leu8414Gln) c.25184T>A (p.Leu8395Gln) c.25172T>A (p.Leu8391Gln) c.25169T>A (p.Leu8390Gln) c.25166T>A (p.Leu8389Gln) c.25322T>A (p.Leu8441Gln) c.25160T>A (p.Leu8387Gln) c.23600T>A (p.Leu7867Gln) c.23093T>A (p.Leu7698Gln) c.18560T>A (p.Leu6187Gln) c.1826T>A (p.Leu609Gln) c.25298T>A (p.Leu8433Gln) c.25247T>A (p.Leu8416Gln) c.25100T>A (p.Leu8367Gln) | |
| 6 | g.152141230G>A | CA452747083 | SYNE1 | c.1753C>T (p.Leu585=) c.25219C>T (p.Leu8407=) c.25075C>T (p.Leu8359=) c.621C>T c.954C>T c.891-1069C>T c.991C>T (p.Leu331=) c.24004C>T (p.Leu8002=) n.1967C>T c.4054C>T (p.Leu1352=) n.8911C>T c.3157C>T (p.Leu1053=) n.8803C>T n.1833C>T n.4241C>T n.2056C>T c.1684C>T (p.Leu562=) c.25324C>T (p.Leu8442=) c.25312C>T (p.Leu8438=) c.25303C>T (p.Leu8435=) c.25273C>T (p.Leu8425=) c.25309C>T (p.Leu8437=) c.25255C>T (p.Leu8419=) c.25252C>T (p.Leu8418=) c.25240C>T (p.Leu8414=) c.25183C>T (p.Leu8395=) c.25171C>T (p.Leu8391=) c.25168C>T (p.Leu8390=) c.25165C>T (p.Leu8389=) c.25321C>T (p.Leu8441=) c.25159C>T (p.Leu8387=) c.23599C>T (p.Leu7867=) c.23092C>T (p.Leu7698=) c.18559C>T (p.Leu6187=) c.1825C>T (p.Leu609=) c.25297C>T (p.Leu8433=) c.25246C>T (p.Leu8416=) c.25099C>T (p.Leu8367=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141230G>C | CA366081338 | SYNE1 | c.1753C>G (p.Leu585Val) c.25219C>G (p.Leu8407Val) c.25075C>G (p.Leu8359Val) c.621C>G c.954C>G c.891-1069C>G c.991C>G (p.Leu331Val) c.24004C>G (p.Leu8002Val) n.1967C>G c.4054C>G (p.Leu1352Val) n.8911C>G c.3157C>G (p.Leu1053Val) n.8803C>G n.1833C>G n.4241C>G n.2056C>G c.1684C>G (p.Leu562Val) c.25324C>G (p.Leu8442Val) c.25312C>G (p.Leu8438Val) c.25303C>G (p.Leu8435Val) c.25273C>G (p.Leu8425Val) c.25309C>G (p.Leu8437Val) c.25255C>G (p.Leu8419Val) c.25252C>G (p.Leu8418Val) c.25240C>G (p.Leu8414Val) c.25183C>G (p.Leu8395Val) c.25171C>G (p.Leu8391Val) c.25168C>G (p.Leu8390Val) c.25165C>G (p.Leu8389Val) c.25321C>G (p.Leu8441Val) c.25159C>G (p.Leu8387Val) c.23599C>G (p.Leu7867Val) c.23092C>G (p.Leu7698Val) c.18559C>G (p.Leu6187Val) c.1825C>G (p.Leu609Val) c.25297C>G (p.Leu8433Val) c.25246C>G (p.Leu8416Val) c.25099C>G (p.Leu8367Val) | |
| 6 | g.152141230G>T | CA366081340 | SYNE1 | c.1753C>A (p.Leu585Met) c.25219C>A (p.Leu8407Met) c.25075C>A (p.Leu8359Met) c.621C>A c.954C>A c.891-1069C>A c.991C>A (p.Leu331Met) c.24004C>A (p.Leu8002Met) n.1967C>A c.4054C>A (p.Leu1352Met) n.8911C>A c.3157C>A (p.Leu1053Met) n.8803C>A n.1833C>A n.4241C>A n.2056C>A c.1684C>A (p.Leu562Met) c.25324C>A (p.Leu8442Met) c.25312C>A (p.Leu8438Met) c.25303C>A (p.Leu8435Met) c.25273C>A (p.Leu8425Met) c.25309C>A (p.Leu8437Met) c.25255C>A (p.Leu8419Met) c.25252C>A (p.Leu8418Met) c.25240C>A (p.Leu8414Met) c.25183C>A (p.Leu8395Met) c.25171C>A (p.Leu8391Met) c.25168C>A (p.Leu8390Met) c.25165C>A (p.Leu8389Met) c.25321C>A (p.Leu8441Met) c.25159C>A (p.Leu8387Met) c.23599C>A (p.Leu7867Met) c.23092C>A (p.Leu7698Met) c.18559C>A (p.Leu6187Met) c.1825C>A (p.Leu609Met) c.25297C>A (p.Leu8433Met) c.25246C>A (p.Leu8416Met) c.25099C>A (p.Leu8367Met) | |
| 6 | g.152141231G>A | CA452747084 | SYNE1 | c.1752C>T (p.Asn584=) c.25218C>T (p.Asn8406=) c.25074C>T (p.Asn8358=) c.620C>T c.953C>T c.891-1070C>T c.990C>T (p.Asn330=) c.24003C>T (p.Asn8001=) n.1966C>T c.4053C>T (p.Asn1351=) n.8910C>T c.3156C>T (p.Asn1052=) n.8802C>T n.1832C>T n.4240C>T n.2055C>T c.1683C>T (p.Asn561=) c.25323C>T (p.Asn8441=) c.25311C>T (p.Asn8437=) c.25302C>T (p.Asn8434=) c.25272C>T (p.Asn8424=) c.25308C>T (p.Asn8436=) c.25254C>T (p.Asn8418=) c.25251C>T (p.Asn8417=) c.25239C>T (p.Asn8413=) c.25182C>T (p.Asn8394=) c.25170C>T (p.Asn8390=) c.25167C>T (p.Asn8389=) c.25164C>T (p.Asn8388=) c.25320C>T (p.Asn8440=) c.25158C>T (p.Asn8386=) c.23598C>T (p.Asn7866=) c.23091C>T (p.Asn7697=) c.18558C>T (p.Asn6186=) c.1824C>T (p.Asn608=) c.25296C>T (p.Asn8432=) c.25245C>T (p.Asn8415=) c.25098C>T (p.Asn8366=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141231G>C | CA366081342 | SYNE1 | c.1752C>G (p.Asn584Lys) c.25218C>G (p.Asn8406Lys) c.25074C>G (p.Asn8358Lys) c.620C>G c.953C>G c.891-1070C>G c.990C>G (p.Asn330Lys) c.24003C>G (p.Asn8001Lys) n.1966C>G c.4053C>G (p.Asn1351Lys) n.8910C>G c.3156C>G (p.Asn1052Lys) n.8802C>G n.1832C>G n.4240C>G n.2055C>G c.1683C>G (p.Asn561Lys) c.25323C>G (p.Asn8441Lys) c.25311C>G (p.Asn8437Lys) c.25302C>G (p.Asn8434Lys) c.25272C>G (p.Asn8424Lys) c.25308C>G (p.Asn8436Lys) c.25254C>G (p.Asn8418Lys) c.25251C>G (p.Asn8417Lys) c.25239C>G (p.Asn8413Lys) c.25182C>G (p.Asn8394Lys) c.25170C>G (p.Asn8390Lys) c.25167C>G (p.Asn8389Lys) c.25164C>G (p.Asn8388Lys) c.25320C>G (p.Asn8440Lys) c.25158C>G (p.Asn8386Lys) c.23598C>G (p.Asn7866Lys) c.23091C>G (p.Asn7697Lys) c.18558C>G (p.Asn6186Lys) c.1824C>G (p.Asn608Lys) c.25296C>G (p.Asn8432Lys) c.25245C>G (p.Asn8415Lys) c.25098C>G (p.Asn8366Lys) | |
| 6 | g.152141231G= | CA1673207608 | SYNE1 | c.1752C= (p.Asn584=) c.25218C= (p.Asn8406=) c.25074C= (p.Asn8358=) c.620C= c.953C= c.891-1070C= c.990C= (p.Asn330=) c.24003C= (p.Asn8001=) n.1966C= c.4053C= (p.Asn1351=) n.8910C= c.3156C= (p.Asn1052=) n.8802C= n.1832C= n.4240C= n.2055C= c.1683C= (p.Asn561=) c.25323C= (p.Asn8441=) c.25311C= (p.Asn8437=) c.25302C= (p.Asn8434=) c.25272C= (p.Asn8424=) c.25308C= (p.Asn8436=) c.25254C= (p.Asn8418=) c.25251C= (p.Asn8417=) c.25239C= (p.Asn8413=) c.25182C= (p.Asn8394=) c.25170C= (p.Asn8390=) c.25167C= (p.Asn8389=) c.25164C= (p.Asn8388=) c.25320C= (p.Asn8440=) c.25158C= (p.Asn8386=) c.23598C= (p.Asn7866=) c.23091C= (p.Asn7697=) c.18558C= (p.Asn6186=) c.1824C= (p.Asn608=) c.25296C= (p.Asn8432=) c.25245C= (p.Asn8415=) c.25098C= (p.Asn8366=) | |
| 6 | g.152141231G>T | CA366081343 | SYNE1 | c.1752C>A (p.Asn584Lys) c.25218C>A (p.Asn8406Lys) c.25074C>A (p.Asn8358Lys) c.620C>A c.953C>A c.891-1070C>A c.990C>A (p.Asn330Lys) c.24003C>A (p.Asn8001Lys) n.1966C>A c.4053C>A (p.Asn1351Lys) n.8910C>A c.3156C>A (p.Asn1052Lys) n.8802C>A n.1832C>A n.4240C>A n.2055C>A c.1683C>A (p.Asn561Lys) c.25323C>A (p.Asn8441Lys) c.25311C>A (p.Asn8437Lys) c.25302C>A (p.Asn8434Lys) c.25272C>A (p.Asn8424Lys) c.25308C>A (p.Asn8436Lys) c.25254C>A (p.Asn8418Lys) c.25251C>A (p.Asn8417Lys) c.25239C>A (p.Asn8413Lys) c.25182C>A (p.Asn8394Lys) c.25170C>A (p.Asn8390Lys) c.25167C>A (p.Asn8389Lys) c.25164C>A (p.Asn8388Lys) c.25320C>A (p.Asn8440Lys) c.25158C>A (p.Asn8386Lys) c.23598C>A (p.Asn7866Lys) c.23091C>A (p.Asn7697Lys) c.18558C>A (p.Asn6186Lys) c.1824C>A (p.Asn608Lys) c.25296C>A (p.Asn8432Lys) c.25245C>A (p.Asn8415Lys) c.25098C>A (p.Asn8366Lys) | |
| 6 | g.152141232T>A | CA366081345 | SYNE1 | c.1751A>T (p.Asn584Ile) c.25217A>T (p.Asn8406Ile) c.25073A>T (p.Asn8358Ile) c.619A>T c.952A>T c.891-1071A>T c.989A>T (p.Asn330Ile) c.24002A>T (p.Asn8001Ile) n.1965A>T c.4052A>T (p.Asn1351Ile) n.8909A>T c.3155A>T (p.Asn1052Ile) n.8801A>T n.1831A>T n.4239A>T n.2054A>T c.1682A>T (p.Asn561Ile) c.25322A>T (p.Asn8441Ile) c.25310A>T (p.Asn8437Ile) c.25301A>T (p.Asn8434Ile) c.25271A>T (p.Asn8424Ile) c.25307A>T (p.Asn8436Ile) c.25253A>T (p.Asn8418Ile) c.25250A>T (p.Asn8417Ile) c.25238A>T (p.Asn8413Ile) c.25181A>T (p.Asn8394Ile) c.25169A>T (p.Asn8390Ile) c.25166A>T (p.Asn8389Ile) c.25163A>T (p.Asn8388Ile) c.25319A>T (p.Asn8440Ile) c.25157A>T (p.Asn8386Ile) c.23597A>T (p.Asn7866Ile) c.23090A>T (p.Asn7697Ile) c.18557A>T (p.Asn6186Ile) c.1823A>T (p.Asn608Ile) c.25295A>T (p.Asn8432Ile) c.25244A>T (p.Asn8415Ile) c.25097A>T (p.Asn8366Ile) | |
| 6 | g.152141232T>C | CA366081347 | SYNE1 | c.1751A>G (p.Asn584Ser) c.25217A>G (p.Asn8406Ser) c.25073A>G (p.Asn8358Ser) c.619A>G c.952A>G c.891-1071A>G c.989A>G (p.Asn330Ser) c.24002A>G (p.Asn8001Ser) n.1965A>G c.4052A>G (p.Asn1351Ser) n.8909A>G c.3155A>G (p.Asn1052Ser) n.8801A>G n.1831A>G n.4239A>G n.2054A>G c.1682A>G (p.Asn561Ser) c.25322A>G (p.Asn8441Ser) c.25310A>G (p.Asn8437Ser) c.25301A>G (p.Asn8434Ser) c.25271A>G (p.Asn8424Ser) c.25307A>G (p.Asn8436Ser) c.25253A>G (p.Asn8418Ser) c.25250A>G (p.Asn8417Ser) c.25238A>G (p.Asn8413Ser) c.25181A>G (p.Asn8394Ser) c.25169A>G (p.Asn8390Ser) c.25166A>G (p.Asn8389Ser) c.25163A>G (p.Asn8388Ser) c.25319A>G (p.Asn8440Ser) c.25157A>G (p.Asn8386Ser) c.23597A>G (p.Asn7866Ser) c.23090A>G (p.Asn7697Ser) c.18557A>G (p.Asn6186Ser) c.1823A>G (p.Asn608Ser) c.25295A>G (p.Asn8432Ser) c.25244A>G (p.Asn8415Ser) c.25097A>G (p.Asn8366Ser) | gnomAD v4 |
| 6 | g.152141232T>G | CA366081349 | SYNE1 | c.1751A>C (p.Asn584Thr) c.25217A>C (p.Asn8406Thr) c.25073A>C (p.Asn8358Thr) c.619A>C c.952A>C c.891-1071A>C c.989A>C (p.Asn330Thr) c.24002A>C (p.Asn8001Thr) n.1965A>C c.4052A>C (p.Asn1351Thr) n.8909A>C c.3155A>C (p.Asn1052Thr) n.8801A>C n.1831A>C n.4239A>C n.2054A>C c.1682A>C (p.Asn561Thr) c.25322A>C (p.Asn8441Thr) c.25310A>C (p.Asn8437Thr) c.25301A>C (p.Asn8434Thr) c.25271A>C (p.Asn8424Thr) c.25307A>C (p.Asn8436Thr) c.25253A>C (p.Asn8418Thr) c.25250A>C (p.Asn8417Thr) c.25238A>C (p.Asn8413Thr) c.25181A>C (p.Asn8394Thr) c.25169A>C (p.Asn8390Thr) c.25166A>C (p.Asn8389Thr) c.25163A>C (p.Asn8388Thr) c.25319A>C (p.Asn8440Thr) c.25157A>C (p.Asn8386Thr) c.23597A>C (p.Asn7866Thr) c.23090A>C (p.Asn7697Thr) c.18557A>C (p.Asn6186Thr) c.1823A>C (p.Asn608Thr) c.25295A>C (p.Asn8432Thr) c.25244A>C (p.Asn8415Thr) c.25097A>C (p.Asn8366Thr) | |
| 6 | g.152141233T>A | CA366081352 | SYNE1 | c.1750A>T (p.Asn584Tyr) c.25216A>T (p.Asn8406Tyr) c.25072A>T (p.Asn8358Tyr) c.618A>T c.951A>T c.891-1072A>T c.988A>T (p.Asn330Tyr) c.24001A>T (p.Asn8001Tyr) n.1964A>T c.4051A>T (p.Asn1351Tyr) n.8908A>T c.3154A>T (p.Asn1052Tyr) n.8800A>T n.1830A>T n.4238A>T n.2053A>T c.1681A>T (p.Asn561Tyr) c.25321A>T (p.Asn8441Tyr) c.25309A>T (p.Asn8437Tyr) c.25300A>T (p.Asn8434Tyr) c.25270A>T (p.Asn8424Tyr) c.25306A>T (p.Asn8436Tyr) c.25252A>T (p.Asn8418Tyr) c.25249A>T (p.Asn8417Tyr) c.25237A>T (p.Asn8413Tyr) c.25180A>T (p.Asn8394Tyr) c.25168A>T (p.Asn8390Tyr) c.25165A>T (p.Asn8389Tyr) c.25162A>T (p.Asn8388Tyr) c.25318A>T (p.Asn8440Tyr) c.25156A>T (p.Asn8386Tyr) c.23596A>T (p.Asn7866Tyr) c.23089A>T (p.Asn7697Tyr) c.18556A>T (p.Asn6186Tyr) c.1822A>T (p.Asn608Tyr) c.25294A>T (p.Asn8432Tyr) c.25243A>T (p.Asn8415Tyr) c.25096A>T (p.Asn8366Tyr) | |
| 6 | g.152141233T>C | CA366081354 | SYNE1 | c.1750A>G (p.Asn584Asp) c.25216A>G (p.Asn8406Asp) c.25072A>G (p.Asn8358Asp) c.618A>G c.951A>G c.891-1072A>G c.988A>G (p.Asn330Asp) c.24001A>G (p.Asn8001Asp) n.1964A>G c.4051A>G (p.Asn1351Asp) n.8908A>G c.3154A>G (p.Asn1052Asp) n.8800A>G n.1830A>G n.4238A>G n.2053A>G c.1681A>G (p.Asn561Asp) c.25321A>G (p.Asn8441Asp) c.25309A>G (p.Asn8437Asp) c.25300A>G (p.Asn8434Asp) c.25270A>G (p.Asn8424Asp) c.25306A>G (p.Asn8436Asp) c.25252A>G (p.Asn8418Asp) c.25249A>G (p.Asn8417Asp) c.25237A>G (p.Asn8413Asp) c.25180A>G (p.Asn8394Asp) c.25168A>G (p.Asn8390Asp) c.25165A>G (p.Asn8389Asp) c.25162A>G (p.Asn8388Asp) c.25318A>G (p.Asn8440Asp) c.25156A>G (p.Asn8386Asp) c.23596A>G (p.Asn7866Asp) c.23089A>G (p.Asn7697Asp) c.18556A>G (p.Asn6186Asp) c.1822A>G (p.Asn608Asp) c.25294A>G (p.Asn8432Asp) c.25243A>G (p.Asn8415Asp) c.25096A>G (p.Asn8366Asp) | |
| 6 | g.152141233T>G | CA366081356 | SYNE1 | c.1750A>C (p.Asn584His) c.25216A>C (p.Asn8406His) c.25072A>C (p.Asn8358His) c.618A>C c.951A>C c.891-1072A>C c.988A>C (p.Asn330His) c.24001A>C (p.Asn8001His) n.1964A>C c.4051A>C (p.Asn1351His) n.8908A>C c.3154A>C (p.Asn1052His) n.8800A>C n.1830A>C n.4238A>C n.2053A>C c.1681A>C (p.Asn561His) c.25321A>C (p.Asn8441His) c.25309A>C (p.Asn8437His) c.25300A>C (p.Asn8434His) c.25270A>C (p.Asn8424His) c.25306A>C (p.Asn8436His) c.25252A>C (p.Asn8418His) c.25249A>C (p.Asn8417His) c.25237A>C (p.Asn8413His) c.25180A>C (p.Asn8394His) c.25168A>C (p.Asn8390His) c.25165A>C (p.Asn8389His) c.25162A>C (p.Asn8388His) c.25318A>C (p.Asn8440His) c.25156A>C (p.Asn8386His) c.23596A>C (p.Asn7866His) c.23089A>C (p.Asn7697His) c.18556A>C (p.Asn6186His) c.1822A>C (p.Asn608His) c.25294A>C (p.Asn8432His) c.25243A>C (p.Asn8415His) c.25096A>C (p.Asn8366His) | |
| 6 | g.152141234A>C | CA452747086 | SYNE1 | c.1749T>G (p.Val583=) c.25215T>G (p.Val8405=) c.25071T>G (p.Val8357=) c.617T>G c.950T>G c.891-1073T>G c.987T>G (p.Val329=) c.24000T>G (p.Val8000=) n.1963T>G c.4050T>G (p.Val1350=) n.8907T>G c.3153T>G (p.Val1051=) n.8799T>G n.1829T>G n.4237T>G n.2052T>G c.1680T>G (p.Val560=) c.25320T>G (p.Val8440=) c.25308T>G (p.Val8436=) c.25299T>G (p.Val8433=) c.25269T>G (p.Val8423=) c.25305T>G (p.Val8435=) c.25251T>G (p.Val8417=) c.25248T>G (p.Val8416=) c.25236T>G (p.Val8412=) c.25179T>G (p.Val8393=) c.25167T>G (p.Val8389=) c.25164T>G (p.Val8388=) c.25161T>G (p.Val8387=) c.25317T>G (p.Val8439=) c.25155T>G (p.Val8385=) c.23595T>G (p.Val7865=) c.23088T>G (p.Val7696=) c.18555T>G (p.Val6185=) c.1821T>G (p.Val607=) c.25293T>G (p.Val8431=) c.25242T>G (p.Val8414=) c.25095T>G (p.Val8365=) | |
| 6 | g.152141234A>G | CA452747087 | SYNE1 | c.1749T>C (p.Val583=) c.25215T>C (p.Val8405=) c.25071T>C (p.Val8357=) c.617T>C c.950T>C c.891-1073T>C c.987T>C (p.Val329=) c.24000T>C (p.Val8000=) n.1963T>C c.4050T>C (p.Val1350=) n.8907T>C c.3153T>C (p.Val1051=) n.8799T>C n.1829T>C n.4237T>C n.2052T>C c.1680T>C (p.Val560=) c.25320T>C (p.Val8440=) c.25308T>C (p.Val8436=) c.25299T>C (p.Val8433=) c.25269T>C (p.Val8423=) c.25305T>C (p.Val8435=) c.25251T>C (p.Val8417=) c.25248T>C (p.Val8416=) c.25236T>C (p.Val8412=) c.25179T>C (p.Val8393=) c.25167T>C (p.Val8389=) c.25164T>C (p.Val8388=) c.25161T>C (p.Val8387=) c.25317T>C (p.Val8439=) c.25155T>C (p.Val8385=) c.23595T>C (p.Val7865=) c.23088T>C (p.Val7696=) c.18555T>C (p.Val6185=) c.1821T>C (p.Val607=) c.25293T>C (p.Val8431=) c.25242T>C (p.Val8414=) c.25095T>C (p.Val8365=) | |
| 6 | g.152141234A>T | CA452747088 | SYNE1 | c.1749T>A (p.Val583=) c.25215T>A (p.Val8405=) c.25071T>A (p.Val8357=) c.617T>A c.950T>A c.891-1073T>A c.987T>A (p.Val329=) c.24000T>A (p.Val8000=) n.1963T>A c.4050T>A (p.Val1350=) n.8907T>A c.3153T>A (p.Val1051=) n.8799T>A n.1829T>A n.4237T>A n.2052T>A c.1680T>A (p.Val560=) c.25320T>A (p.Val8440=) c.25308T>A (p.Val8436=) c.25299T>A (p.Val8433=) c.25269T>A (p.Val8423=) c.25305T>A (p.Val8435=) c.25251T>A (p.Val8417=) c.25248T>A (p.Val8416=) c.25236T>A (p.Val8412=) c.25179T>A (p.Val8393=) c.25167T>A (p.Val8389=) c.25164T>A (p.Val8388=) c.25161T>A (p.Val8387=) c.25317T>A (p.Val8439=) c.25155T>A (p.Val8385=) c.23595T>A (p.Val7865=) c.23088T>A (p.Val7696=) c.18555T>A (p.Val6185=) c.1821T>A (p.Val607=) c.25293T>A (p.Val8431=) c.25242T>A (p.Val8414=) c.25095T>A (p.Val8365=) | |
| 6 | g.152141235A>C | CA366081362 | SYNE1 | c.1748T>G (p.Val583Gly) c.25214T>G (p.Val8405Gly) c.25070T>G (p.Val8357Gly) c.616T>G c.949T>G c.891-1074T>G c.986T>G (p.Val329Gly) c.23999T>G (p.Val8000Gly) n.1962T>G c.4049T>G (p.Val1350Gly) n.8906T>G c.3152T>G (p.Val1051Gly) n.8798T>G n.1828T>G n.4236T>G n.2051T>G c.1679T>G (p.Val560Gly) c.25319T>G (p.Val8440Gly) c.25307T>G (p.Val8436Gly) c.25298T>G (p.Val8433Gly) c.25268T>G (p.Val8423Gly) c.25304T>G (p.Val8435Gly) c.25250T>G (p.Val8417Gly) c.25247T>G (p.Val8416Gly) c.25235T>G (p.Val8412Gly) c.25178T>G (p.Val8393Gly) c.25166T>G (p.Val8389Gly) c.25163T>G (p.Val8388Gly) c.25160T>G (p.Val8387Gly) c.25316T>G (p.Val8439Gly) c.25154T>G (p.Val8385Gly) c.23594T>G (p.Val7865Gly) c.23087T>G (p.Val7696Gly) c.18554T>G (p.Val6185Gly) c.1820T>G (p.Val607Gly) c.25292T>G (p.Val8431Gly) c.25241T>G (p.Val8414Gly) c.25094T>G (p.Val8365Gly) | |
| 6 | g.152141235A>G | CA366081360 | SYNE1 | c.1748T>C (p.Val583Ala) c.25214T>C (p.Val8405Ala) c.25070T>C (p.Val8357Ala) c.616T>C c.949T>C c.891-1074T>C c.986T>C (p.Val329Ala) c.23999T>C (p.Val8000Ala) n.1962T>C c.4049T>C (p.Val1350Ala) n.8906T>C c.3152T>C (p.Val1051Ala) n.8798T>C n.1828T>C n.4236T>C n.2051T>C c.1679T>C (p.Val560Ala) c.25319T>C (p.Val8440Ala) c.25307T>C (p.Val8436Ala) c.25298T>C (p.Val8433Ala) c.25268T>C (p.Val8423Ala) c.25304T>C (p.Val8435Ala) c.25250T>C (p.Val8417Ala) c.25247T>C (p.Val8416Ala) c.25235T>C (p.Val8412Ala) c.25178T>C (p.Val8393Ala) c.25166T>C (p.Val8389Ala) c.25163T>C (p.Val8388Ala) c.25160T>C (p.Val8387Ala) c.25316T>C (p.Val8439Ala) c.25154T>C (p.Val8385Ala) c.23594T>C (p.Val7865Ala) c.23087T>C (p.Val7696Ala) c.18554T>C (p.Val6185Ala) c.1820T>C (p.Val607Ala) c.25292T>C (p.Val8431Ala) c.25241T>C (p.Val8414Ala) c.25094T>C (p.Val8365Ala) | |
| 6 | g.152141235A>T | CA366081358 | SYNE1 | c.1748T>A (p.Val583Asp) c.25214T>A (p.Val8405Asp) c.25070T>A (p.Val8357Asp) c.616T>A c.949T>A c.891-1074T>A c.986T>A (p.Val329Asp) c.23999T>A (p.Val8000Asp) n.1962T>A c.4049T>A (p.Val1350Asp) n.8906T>A c.3152T>A (p.Val1051Asp) n.8798T>A n.1828T>A n.4236T>A n.2051T>A c.1679T>A (p.Val560Asp) c.25319T>A (p.Val8440Asp) c.25307T>A (p.Val8436Asp) c.25298T>A (p.Val8433Asp) c.25268T>A (p.Val8423Asp) c.25304T>A (p.Val8435Asp) c.25250T>A (p.Val8417Asp) c.25247T>A (p.Val8416Asp) c.25235T>A (p.Val8412Asp) c.25178T>A (p.Val8393Asp) c.25166T>A (p.Val8389Asp) c.25163T>A (p.Val8388Asp) c.25160T>A (p.Val8387Asp) c.25316T>A (p.Val8439Asp) c.25154T>A (p.Val8385Asp) c.23594T>A (p.Val7865Asp) c.23087T>A (p.Val7696Asp) c.18554T>A (p.Val6185Asp) c.1820T>A (p.Val607Asp) c.25292T>A (p.Val8431Asp) c.25241T>A (p.Val8414Asp) c.25094T>A (p.Val8365Asp) | |
| 6 | g.152141236C>A | CA4052898 | SYNE1 | c.1747G>T (p.Val583Phe) c.25213G>T (p.Val8405Phe) c.25069G>T (p.Val8357Phe) c.615G>T c.948G>T c.891-1075G>T c.985G>T (p.Val329Phe) c.23998G>T (p.Val8000Phe) n.1961G>T c.4048G>T (p.Val1350Phe) n.8905G>T c.3151G>T (p.Val1051Phe) n.8797G>T n.1827G>T n.4235G>T n.2050G>T c.1678G>T (p.Val560Phe) c.25318G>T (p.Val8440Phe) c.25306G>T (p.Val8436Phe) c.25297G>T (p.Val8433Phe) c.25267G>T (p.Val8423Phe) c.25303G>T (p.Val8435Phe) c.25249G>T (p.Val8417Phe) c.25246G>T (p.Val8416Phe) c.25234G>T (p.Val8412Phe) c.25177G>T (p.Val8393Phe) c.25165G>T (p.Val8389Phe) c.25162G>T (p.Val8388Phe) c.25159G>T (p.Val8387Phe) c.25315G>T (p.Val8439Phe) c.25153G>T (p.Val8385Phe) c.23593G>T (p.Val7865Phe) c.23086G>T (p.Val7696Phe) c.18553G>T (p.Val6185Phe) c.1819G>T (p.Val607Phe) c.25291G>T (p.Val8431Phe) c.25240G>T (p.Val8414Phe) c.25093G>T (p.Val8365Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141236C= | CA1673207611 | SYNE1 | c.1747G= (p.Val583=) c.25213G= (p.Val8405=) c.25069G= (p.Val8357=) c.615G= c.948G= c.891-1075G= c.985G= (p.Val329=) c.23998G= (p.Val8000=) n.1961G= c.4048G= (p.Val1350=) n.8905G= c.3151G= (p.Val1051=) n.8797G= n.1827G= n.4235G= n.2050G= c.1678G= (p.Val560=) c.25318G= (p.Val8440=) c.25306G= (p.Val8436=) c.25297G= (p.Val8433=) c.25267G= (p.Val8423=) c.25303G= (p.Val8435=) c.25249G= (p.Val8417=) c.25246G= (p.Val8416=) c.25234G= (p.Val8412=) c.25177G= (p.Val8393=) c.25165G= (p.Val8389=) c.25162G= (p.Val8388=) c.25159G= (p.Val8387=) c.25315G= (p.Val8439=) c.25153G= (p.Val8385=) c.23593G= (p.Val7865=) c.23086G= (p.Val7696=) c.18553G= (p.Val6185=) c.1819G= (p.Val607=) c.25291G= (p.Val8431=) c.25240G= (p.Val8414=) c.25093G= (p.Val8365=) | |
| 6 | g.152141236C>G | CA366081365 | SYNE1 | c.1747G>C (p.Val583Leu) c.25213G>C (p.Val8405Leu) c.25069G>C (p.Val8357Leu) c.615G>C c.948G>C c.891-1075G>C c.985G>C (p.Val329Leu) c.23998G>C (p.Val8000Leu) n.1961G>C c.4048G>C (p.Val1350Leu) n.8905G>C c.3151G>C (p.Val1051Leu) n.8797G>C n.1827G>C n.4235G>C n.2050G>C c.1678G>C (p.Val560Leu) c.25318G>C (p.Val8440Leu) c.25306G>C (p.Val8436Leu) c.25297G>C (p.Val8433Leu) c.25267G>C (p.Val8423Leu) c.25303G>C (p.Val8435Leu) c.25249G>C (p.Val8417Leu) c.25246G>C (p.Val8416Leu) c.25234G>C (p.Val8412Leu) c.25177G>C (p.Val8393Leu) c.25165G>C (p.Val8389Leu) c.25162G>C (p.Val8388Leu) c.25159G>C (p.Val8387Leu) c.25315G>C (p.Val8439Leu) c.25153G>C (p.Val8385Leu) c.23593G>C (p.Val7865Leu) c.23086G>C (p.Val7696Leu) c.18553G>C (p.Val6185Leu) c.1819G>C (p.Val607Leu) c.25291G>C (p.Val8431Leu) c.25240G>C (p.Val8414Leu) c.25093G>C (p.Val8365Leu) | |
| 6 | g.152141236C>T | CA366081367 | SYNE1 | c.1747G>A (p.Val583Ile) c.25213G>A (p.Val8405Ile) c.25069G>A (p.Val8357Ile) c.615G>A c.948G>A c.891-1075G>A c.985G>A (p.Val329Ile) c.23998G>A (p.Val8000Ile) n.1961G>A c.4048G>A (p.Val1350Ile) n.8905G>A c.3151G>A (p.Val1051Ile) n.8797G>A n.1827G>A n.4235G>A n.2050G>A c.1678G>A (p.Val560Ile) c.25318G>A (p.Val8440Ile) c.25306G>A (p.Val8436Ile) c.25297G>A (p.Val8433Ile) c.25267G>A (p.Val8423Ile) c.25303G>A (p.Val8435Ile) c.25249G>A (p.Val8417Ile) c.25246G>A (p.Val8416Ile) c.25234G>A (p.Val8412Ile) c.25177G>A (p.Val8393Ile) c.25165G>A (p.Val8389Ile) c.25162G>A (p.Val8388Ile) c.25159G>A (p.Val8387Ile) c.25315G>A (p.Val8439Ile) c.25153G>A (p.Val8385Ile) c.23593G>A (p.Val7865Ile) c.23086G>A (p.Val7696Ile) c.18553G>A (p.Val6185Ile) c.1819G>A (p.Val607Ile) c.25291G>A (p.Val8431Ile) c.25240G>A (p.Val8414Ile) c.25093G>A (p.Val8365Ile) | |
| 6 | g.152141237A>C | CA366081368 | SYNE1 | c.1746T>G (p.Phe582Leu) c.25212T>G (p.Phe8404Leu) c.25068T>G (p.Phe8356Leu) c.614T>G c.947T>G c.891-1076T>G c.984T>G (p.Phe328Leu) c.23997T>G (p.Phe7999Leu) n.1960T>G c.4047T>G (p.Phe1349Leu) n.8904T>G c.3150T>G (p.Phe1050Leu) n.8796T>G n.1826T>G n.4234T>G n.2049T>G c.1677T>G (p.Phe559Leu) c.25317T>G (p.Phe8439Leu) c.25305T>G (p.Phe8435Leu) c.25296T>G (p.Phe8432Leu) c.25266T>G (p.Phe8422Leu) c.25302T>G (p.Phe8434Leu) c.25248T>G (p.Phe8416Leu) c.25245T>G (p.Phe8415Leu) c.25233T>G (p.Phe8411Leu) c.25176T>G (p.Phe8392Leu) c.25164T>G (p.Phe8388Leu) c.25161T>G (p.Phe8387Leu) c.25158T>G (p.Phe8386Leu) c.25314T>G (p.Phe8438Leu) c.25152T>G (p.Phe8384Leu) c.23592T>G (p.Phe7864Leu) c.23085T>G (p.Phe7695Leu) c.18552T>G (p.Phe6184Leu) c.1818T>G (p.Phe606Leu) c.25290T>G (p.Phe8430Leu) c.25239T>G (p.Phe8413Leu) c.25092T>G (p.Phe8364Leu) | |
| 6 | g.152141237A>G | CA452747090 | SYNE1 | c.1746T>C (p.Phe582=) c.25212T>C (p.Phe8404=) c.25068T>C (p.Phe8356=) c.614T>C c.947T>C c.891-1076T>C c.984T>C (p.Phe328=) c.23997T>C (p.Phe7999=) n.1960T>C c.4047T>C (p.Phe1349=) n.8904T>C c.3150T>C (p.Phe1050=) n.8796T>C n.1826T>C n.4234T>C n.2049T>C c.1677T>C (p.Phe559=) c.25317T>C (p.Phe8439=) c.25305T>C (p.Phe8435=) c.25296T>C (p.Phe8432=) c.25266T>C (p.Phe8422=) c.25302T>C (p.Phe8434=) c.25248T>C (p.Phe8416=) c.25245T>C (p.Phe8415=) c.25233T>C (p.Phe8411=) c.25176T>C (p.Phe8392=) c.25164T>C (p.Phe8388=) c.25161T>C (p.Phe8387=) c.25158T>C (p.Phe8386=) c.25314T>C (p.Phe8438=) c.25152T>C (p.Phe8384=) c.23592T>C (p.Phe7864=) c.23085T>C (p.Phe7695=) c.18552T>C (p.Phe6184=) c.1818T>C (p.Phe606=) c.25290T>C (p.Phe8430=) c.25239T>C (p.Phe8413=) c.25092T>C (p.Phe8364=) | |
| 6 | g.152141237A>T | CA366081371 | SYNE1 | c.1746T>A (p.Phe582Leu) c.25212T>A (p.Phe8404Leu) c.25068T>A (p.Phe8356Leu) c.614T>A c.947T>A c.891-1076T>A c.984T>A (p.Phe328Leu) c.23997T>A (p.Phe7999Leu) n.1960T>A c.4047T>A (p.Phe1349Leu) n.8904T>A c.3150T>A (p.Phe1050Leu) n.8796T>A n.1826T>A n.4234T>A n.2049T>A c.1677T>A (p.Phe559Leu) c.25317T>A (p.Phe8439Leu) c.25305T>A (p.Phe8435Leu) c.25296T>A (p.Phe8432Leu) c.25266T>A (p.Phe8422Leu) c.25302T>A (p.Phe8434Leu) c.25248T>A (p.Phe8416Leu) c.25245T>A (p.Phe8415Leu) c.25233T>A (p.Phe8411Leu) c.25176T>A (p.Phe8392Leu) c.25164T>A (p.Phe8388Leu) c.25161T>A (p.Phe8387Leu) c.25158T>A (p.Phe8386Leu) c.25314T>A (p.Phe8438Leu) c.25152T>A (p.Phe8384Leu) c.23592T>A (p.Phe7864Leu) c.23085T>A (p.Phe7695Leu) c.18552T>A (p.Phe6184Leu) c.1818T>A (p.Phe606Leu) c.25290T>A (p.Phe8430Leu) c.25239T>A (p.Phe8413Leu) c.25092T>A (p.Phe8364Leu) | |
| 6 | g.152141238A>C | CA366081373 | SYNE1 | c.1745T>G (p.Phe582Cys) c.25211T>G (p.Phe8404Cys) c.25067T>G (p.Phe8356Cys) c.613T>G c.946T>G c.891-1077T>G c.983T>G (p.Phe328Cys) c.23996T>G (p.Phe7999Cys) n.1959T>G c.4046T>G (p.Phe1349Cys) n.8903T>G c.3149T>G (p.Phe1050Cys) n.8795T>G n.1825T>G n.4233T>G n.2048T>G c.1676T>G (p.Phe559Cys) c.25316T>G (p.Phe8439Cys) c.25304T>G (p.Phe8435Cys) c.25295T>G (p.Phe8432Cys) c.25265T>G (p.Phe8422Cys) c.25301T>G (p.Phe8434Cys) c.25247T>G (p.Phe8416Cys) c.25244T>G (p.Phe8415Cys) c.25232T>G (p.Phe8411Cys) c.25175T>G (p.Phe8392Cys) c.25163T>G (p.Phe8388Cys) c.25160T>G (p.Phe8387Cys) c.25157T>G (p.Phe8386Cys) c.25313T>G (p.Phe8438Cys) c.25151T>G (p.Phe8384Cys) c.23591T>G (p.Phe7864Cys) c.23084T>G (p.Phe7695Cys) c.18551T>G (p.Phe6184Cys) c.1817T>G (p.Phe606Cys) c.25289T>G (p.Phe8430Cys) c.25238T>G (p.Phe8413Cys) c.25091T>G (p.Phe8364Cys) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141238A>G | CA366081375 | SYNE1 | c.1745T>C (p.Phe582Ser) c.25211T>C (p.Phe8404Ser) c.25067T>C (p.Phe8356Ser) c.613T>C c.946T>C c.891-1077T>C c.983T>C (p.Phe328Ser) c.23996T>C (p.Phe7999Ser) n.1959T>C c.4046T>C (p.Phe1349Ser) n.8903T>C c.3149T>C (p.Phe1050Ser) n.8795T>C n.1825T>C n.4233T>C n.2048T>C c.1676T>C (p.Phe559Ser) c.25316T>C (p.Phe8439Ser) c.25304T>C (p.Phe8435Ser) c.25295T>C (p.Phe8432Ser) c.25265T>C (p.Phe8422Ser) c.25301T>C (p.Phe8434Ser) c.25247T>C (p.Phe8416Ser) c.25244T>C (p.Phe8415Ser) c.25232T>C (p.Phe8411Ser) c.25175T>C (p.Phe8392Ser) c.25163T>C (p.Phe8388Ser) c.25160T>C (p.Phe8387Ser) c.25157T>C (p.Phe8386Ser) c.25313T>C (p.Phe8438Ser) c.25151T>C (p.Phe8384Ser) c.23591T>C (p.Phe7864Ser) c.23084T>C (p.Phe7695Ser) c.18551T>C (p.Phe6184Ser) c.1817T>C (p.Phe606Ser) c.25289T>C (p.Phe8430Ser) c.25238T>C (p.Phe8413Ser) c.25091T>C (p.Phe8364Ser) | |
| 6 | g.152141238A>T | CA366081378 | SYNE1 | c.1745T>A (p.Phe582Tyr) c.25211T>A (p.Phe8404Tyr) c.25067T>A (p.Phe8356Tyr) c.613T>A c.946T>A c.891-1077T>A c.983T>A (p.Phe328Tyr) c.23996T>A (p.Phe7999Tyr) n.1959T>A c.4046T>A (p.Phe1349Tyr) n.8903T>A c.3149T>A (p.Phe1050Tyr) n.8795T>A n.1825T>A n.4233T>A n.2048T>A c.1676T>A (p.Phe559Tyr) c.25316T>A (p.Phe8439Tyr) c.25304T>A (p.Phe8435Tyr) c.25295T>A (p.Phe8432Tyr) c.25265T>A (p.Phe8422Tyr) c.25301T>A (p.Phe8434Tyr) c.25247T>A (p.Phe8416Tyr) c.25244T>A (p.Phe8415Tyr) c.25232T>A (p.Phe8411Tyr) c.25175T>A (p.Phe8392Tyr) c.25163T>A (p.Phe8388Tyr) c.25160T>A (p.Phe8387Tyr) c.25157T>A (p.Phe8386Tyr) c.25313T>A (p.Phe8438Tyr) c.25151T>A (p.Phe8384Tyr) c.23591T>A (p.Phe7864Tyr) c.23084T>A (p.Phe7695Tyr) c.18551T>A (p.Phe6184Tyr) c.1817T>A (p.Phe606Tyr) c.25289T>A (p.Phe8430Tyr) c.25238T>A (p.Phe8413Tyr) c.25091T>A (p.Phe8364Tyr) | |
| 6 | g.152141239A= | CA1673207617 | SYNE1 | c.1744T= (p.Phe582=) c.25210T= (p.Phe8404=) c.25066T= (p.Phe8356=) c.612T= c.945T= c.891-1078T= c.982T= (p.Phe328=) c.23995T= (p.Phe7999=) n.1958T= c.4045T= (p.Phe1349=) n.8902T= c.3148T= (p.Phe1050=) n.8794T= n.1824T= n.4232T= n.2047T= c.1675T= (p.Phe559=) c.25315T= (p.Phe8439=) c.25303T= (p.Phe8435=) c.25294T= (p.Phe8432=) c.25264T= (p.Phe8422=) c.25300T= (p.Phe8434=) c.25246T= (p.Phe8416=) c.25243T= (p.Phe8415=) c.25231T= (p.Phe8411=) c.25174T= (p.Phe8392=) c.25162T= (p.Phe8388=) c.25159T= (p.Phe8387=) c.25156T= (p.Phe8386=) c.25312T= (p.Phe8438=) c.25150T= (p.Phe8384=) c.23590T= (p.Phe7864=) c.23083T= (p.Phe7695=) c.18550T= (p.Phe6184=) c.1816T= (p.Phe606=) c.25288T= (p.Phe8430=) c.25237T= (p.Phe8413=) c.25090T= (p.Phe8364=) | |
| 6 | g.152141239A>C | CA366081380 | SYNE1 | c.1744T>G (p.Phe582Val) c.25210T>G (p.Phe8404Val) c.25066T>G (p.Phe8356Val) c.612T>G c.945T>G c.891-1078T>G c.982T>G (p.Phe328Val) c.23995T>G (p.Phe7999Val) n.1958T>G c.4045T>G (p.Phe1349Val) n.8902T>G c.3148T>G (p.Phe1050Val) n.8794T>G n.1824T>G n.4232T>G n.2047T>G c.1675T>G (p.Phe559Val) c.25315T>G (p.Phe8439Val) c.25303T>G (p.Phe8435Val) c.25294T>G (p.Phe8432Val) c.25264T>G (p.Phe8422Val) c.25300T>G (p.Phe8434Val) c.25246T>G (p.Phe8416Val) c.25243T>G (p.Phe8415Val) c.25231T>G (p.Phe8411Val) c.25174T>G (p.Phe8392Val) c.25162T>G (p.Phe8388Val) c.25159T>G (p.Phe8387Val) c.25156T>G (p.Phe8386Val) c.25312T>G (p.Phe8438Val) c.25150T>G (p.Phe8384Val) c.23590T>G (p.Phe7864Val) c.23083T>G (p.Phe7695Val) c.18550T>G (p.Phe6184Val) c.1816T>G (p.Phe606Val) c.25288T>G (p.Phe8430Val) c.25237T>G (p.Phe8413Val) c.25090T>G (p.Phe8364Val) | |
| 6 | g.152141239A>G | CA150166668 | SYNE1 | c.1744T>C (p.Phe582Leu) c.25210T>C (p.Phe8404Leu) c.25066T>C (p.Phe8356Leu) c.612T>C c.945T>C c.891-1078T>C c.982T>C (p.Phe328Leu) c.23995T>C (p.Phe7999Leu) n.1958T>C c.4045T>C (p.Phe1349Leu) n.8902T>C c.3148T>C (p.Phe1050Leu) n.8794T>C n.1824T>C n.4232T>C n.2047T>C c.1675T>C (p.Phe559Leu) c.25315T>C (p.Phe8439Leu) c.25303T>C (p.Phe8435Leu) c.25294T>C (p.Phe8432Leu) c.25264T>C (p.Phe8422Leu) c.25300T>C (p.Phe8434Leu) c.25246T>C (p.Phe8416Leu) c.25243T>C (p.Phe8415Leu) c.25231T>C (p.Phe8411Leu) c.25174T>C (p.Phe8392Leu) c.25162T>C (p.Phe8388Leu) c.25159T>C (p.Phe8387Leu) c.25156T>C (p.Phe8386Leu) c.25312T>C (p.Phe8438Leu) c.25150T>C (p.Phe8384Leu) c.23590T>C (p.Phe7864Leu) c.23083T>C (p.Phe7695Leu) c.18550T>C (p.Phe6184Leu) c.1816T>C (p.Phe606Leu) c.25288T>C (p.Phe8430Leu) c.25237T>C (p.Phe8413Leu) c.25090T>C (p.Phe8364Leu) | dbSNP |
| 6 | g.152141239A>T | CA366081383 | SYNE1 | c.1744T>A (p.Phe582Ile) c.25210T>A (p.Phe8404Ile) c.25066T>A (p.Phe8356Ile) c.612T>A c.945T>A c.891-1078T>A c.982T>A (p.Phe328Ile) c.23995T>A (p.Phe7999Ile) n.1958T>A c.4045T>A (p.Phe1349Ile) n.8902T>A c.3148T>A (p.Phe1050Ile) n.8794T>A n.1824T>A n.4232T>A n.2047T>A c.1675T>A (p.Phe559Ile) c.25315T>A (p.Phe8439Ile) c.25303T>A (p.Phe8435Ile) c.25294T>A (p.Phe8432Ile) c.25264T>A (p.Phe8422Ile) c.25300T>A (p.Phe8434Ile) c.25246T>A (p.Phe8416Ile) c.25243T>A (p.Phe8415Ile) c.25231T>A (p.Phe8411Ile) c.25174T>A (p.Phe8392Ile) c.25162T>A (p.Phe8388Ile) c.25159T>A (p.Phe8387Ile) c.25156T>A (p.Phe8386Ile) c.25312T>A (p.Phe8438Ile) c.25150T>A (p.Phe8384Ile) c.23590T>A (p.Phe7864Ile) c.23083T>A (p.Phe7695Ile) c.18550T>A (p.Phe6184Ile) c.1816T>A (p.Phe606Ile) c.25288T>A (p.Phe8430Ile) c.25237T>A (p.Phe8413Ile) c.25090T>A (p.Phe8364Ile) | |
| 6 | g.152141240G>A | CA452747091 | SYNE1 | c.1743C>T (p.Gly581=) c.25209C>T (p.Gly8403=) c.25065C>T (p.Gly8355=) c.611C>T c.944C>T c.891-1079C>T c.981C>T (p.Gly327=) c.23994C>T (p.Gly7998=) n.1957C>T c.4044C>T (p.Gly1348=) n.8901C>T c.3147C>T (p.Gly1049=) n.8793C>T n.1823C>T n.4231C>T n.2046C>T c.1674C>T (p.Gly558=) c.25314C>T (p.Gly8438=) c.25302C>T (p.Gly8434=) c.25293C>T (p.Gly8431=) c.25263C>T (p.Gly8421=) c.25299C>T (p.Gly8433=) c.25245C>T (p.Gly8415=) c.25242C>T (p.Gly8414=) c.25230C>T (p.Gly8410=) c.25173C>T (p.Gly8391=) c.25161C>T (p.Gly8387=) c.25158C>T (p.Gly8386=) c.25155C>T (p.Gly8385=) c.25311C>T (p.Gly8437=) c.25149C>T (p.Gly8383=) c.23589C>T (p.Gly7863=) c.23082C>T (p.Gly7694=) c.18549C>T (p.Gly6183=) c.1815C>T (p.Gly605=) c.25287C>T (p.Gly8429=) c.25236C>T (p.Gly8412=) c.25089C>T (p.Gly8363=) | |
| 6 | g.152141240G>C | CA452747092 | SYNE1 | c.1743C>G (p.Gly581=) c.25209C>G (p.Gly8403=) c.25065C>G (p.Gly8355=) c.611C>G c.944C>G c.891-1079C>G c.981C>G (p.Gly327=) c.23994C>G (p.Gly7998=) n.1957C>G c.4044C>G (p.Gly1348=) n.8901C>G c.3147C>G (p.Gly1049=) n.8793C>G n.1823C>G n.4231C>G n.2046C>G c.1674C>G (p.Gly558=) c.25314C>G (p.Gly8438=) c.25302C>G (p.Gly8434=) c.25293C>G (p.Gly8431=) c.25263C>G (p.Gly8421=) c.25299C>G (p.Gly8433=) c.25245C>G (p.Gly8415=) c.25242C>G (p.Gly8414=) c.25230C>G (p.Gly8410=) c.25173C>G (p.Gly8391=) c.25161C>G (p.Gly8387=) c.25158C>G (p.Gly8386=) c.25155C>G (p.Gly8385=) c.25311C>G (p.Gly8437=) c.25149C>G (p.Gly8383=) c.23589C>G (p.Gly7863=) c.23082C>G (p.Gly7694=) c.18549C>G (p.Gly6183=) c.1815C>G (p.Gly605=) c.25287C>G (p.Gly8429=) c.25236C>G (p.Gly8412=) c.25089C>G (p.Gly8363=) | |
| 6 | g.152141240G>T | CA452747093 | SYNE1 | c.1743C>A (p.Gly581=) c.25209C>A (p.Gly8403=) c.25065C>A (p.Gly8355=) c.611C>A c.944C>A c.891-1079C>A c.981C>A (p.Gly327=) c.23994C>A (p.Gly7998=) n.1957C>A c.4044C>A (p.Gly1348=) n.8901C>A c.3147C>A (p.Gly1049=) n.8793C>A n.1823C>A n.4231C>A n.2046C>A c.1674C>A (p.Gly558=) c.25314C>A (p.Gly8438=) c.25302C>A (p.Gly8434=) c.25293C>A (p.Gly8431=) c.25263C>A (p.Gly8421=) c.25299C>A (p.Gly8433=) c.25245C>A (p.Gly8415=) c.25242C>A (p.Gly8414=) c.25230C>A (p.Gly8410=) c.25173C>A (p.Gly8391=) c.25161C>A (p.Gly8387=) c.25158C>A (p.Gly8386=) c.25155C>A (p.Gly8385=) c.25311C>A (p.Gly8437=) c.25149C>A (p.Gly8383=) c.23589C>A (p.Gly7863=) c.23082C>A (p.Gly7694=) c.18549C>A (p.Gly6183=) c.1815C>A (p.Gly605=) c.25287C>A (p.Gly8429=) c.25236C>A (p.Gly8412=) c.25089C>A (p.Gly8363=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141241C>A | CA4052899 | SYNE1 | c.1742G>T (p.Gly581Val) c.25208G>T (p.Gly8403Val) c.25064G>T (p.Gly8355Val) c.610G>T c.943G>T c.891-1080G>T c.980G>T (p.Gly327Val) c.23993G>T (p.Gly7998Val) n.1956G>T c.4043G>T (p.Gly1348Val) n.8900G>T c.3146G>T (p.Gly1049Val) n.8792G>T n.1822G>T n.4230G>T n.2045G>T c.1673G>T (p.Gly558Val) c.25313G>T (p.Gly8438Val) c.25301G>T (p.Gly8434Val) c.25292G>T (p.Gly8431Val) c.25262G>T (p.Gly8421Val) c.25298G>T (p.Gly8433Val) c.25244G>T (p.Gly8415Val) c.25241G>T (p.Gly8414Val) c.25229G>T (p.Gly8410Val) c.25172G>T (p.Gly8391Val) c.25160G>T (p.Gly8387Val) c.25157G>T (p.Gly8386Val) c.25154G>T (p.Gly8385Val) c.25310G>T (p.Gly8437Val) c.25148G>T (p.Gly8383Val) c.23588G>T (p.Gly7863Val) c.23081G>T (p.Gly7694Val) c.18548G>T (p.Gly6183Val) c.1814G>T (p.Gly605Val) c.25286G>T (p.Gly8429Val) c.25235G>T (p.Gly8412Val) c.25088G>T (p.Gly8363Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141241C= | CA1673207619 | SYNE1 | c.1742G= (p.Gly581=) c.25208G= (p.Gly8403=) c.25064G= (p.Gly8355=) c.610G= c.943G= c.891-1080G= c.980G= (p.Gly327=) c.23993G= (p.Gly7998=) n.1956G= c.4043G= (p.Gly1348=) n.8900G= c.3146G= (p.Gly1049=) n.8792G= n.1822G= n.4230G= n.2045G= c.1673G= (p.Gly558=) c.25313G= (p.Gly8438=) c.25301G= (p.Gly8434=) c.25292G= (p.Gly8431=) c.25262G= (p.Gly8421=) c.25298G= (p.Gly8433=) c.25244G= (p.Gly8415=) c.25241G= (p.Gly8414=) c.25229G= (p.Gly8410=) c.25172G= (p.Gly8391=) c.25160G= (p.Gly8387=) c.25157G= (p.Gly8386=) c.25154G= (p.Gly8385=) c.25310G= (p.Gly8437=) c.25148G= (p.Gly8383=) c.23588G= (p.Gly7863=) c.23081G= (p.Gly7694=) c.18548G= (p.Gly6183=) c.1814G= (p.Gly605=) c.25286G= (p.Gly8429=) c.25235G= (p.Gly8412=) c.25088G= (p.Gly8363=) | |
| 6 | g.152141241C>G | CA366081386 | SYNE1 | c.1742G>C (p.Gly581Ala) c.25208G>C (p.Gly8403Ala) c.25064G>C (p.Gly8355Ala) c.610G>C c.943G>C c.891-1080G>C c.980G>C (p.Gly327Ala) c.23993G>C (p.Gly7998Ala) n.1956G>C c.4043G>C (p.Gly1348Ala) n.8900G>C c.3146G>C (p.Gly1049Ala) n.8792G>C n.1822G>C n.4230G>C n.2045G>C c.1673G>C (p.Gly558Ala) c.25313G>C (p.Gly8438Ala) c.25301G>C (p.Gly8434Ala) c.25292G>C (p.Gly8431Ala) c.25262G>C (p.Gly8421Ala) c.25298G>C (p.Gly8433Ala) c.25244G>C (p.Gly8415Ala) c.25241G>C (p.Gly8414Ala) c.25229G>C (p.Gly8410Ala) c.25172G>C (p.Gly8391Ala) c.25160G>C (p.Gly8387Ala) c.25157G>C (p.Gly8386Ala) c.25154G>C (p.Gly8385Ala) c.25310G>C (p.Gly8437Ala) c.25148G>C (p.Gly8383Ala) c.23588G>C (p.Gly7863Ala) c.23081G>C (p.Gly7694Ala) c.18548G>C (p.Gly6183Ala) c.1814G>C (p.Gly605Ala) c.25286G>C (p.Gly8429Ala) c.25235G>C (p.Gly8412Ala) c.25088G>C (p.Gly8363Ala) | |
| 6 | g.152141241C>T | CA366081389 | SYNE1 | c.1742G>A (p.Gly581Asp) c.25208G>A (p.Gly8403Asp) c.25064G>A (p.Gly8355Asp) c.610G>A c.943G>A c.891-1080G>A c.980G>A (p.Gly327Asp) c.23993G>A (p.Gly7998Asp) n.1956G>A c.4043G>A (p.Gly1348Asp) n.8900G>A c.3146G>A (p.Gly1049Asp) n.8792G>A n.1822G>A n.4230G>A n.2045G>A c.1673G>A (p.Gly558Asp) c.25313G>A (p.Gly8438Asp) c.25301G>A (p.Gly8434Asp) c.25292G>A (p.Gly8431Asp) c.25262G>A (p.Gly8421Asp) c.25298G>A (p.Gly8433Asp) c.25244G>A (p.Gly8415Asp) c.25241G>A (p.Gly8414Asp) c.25229G>A (p.Gly8410Asp) c.25172G>A (p.Gly8391Asp) c.25160G>A (p.Gly8387Asp) c.25157G>A (p.Gly8386Asp) c.25154G>A (p.Gly8385Asp) c.25310G>A (p.Gly8437Asp) c.25148G>A (p.Gly8383Asp) c.23588G>A (p.Gly7863Asp) c.23081G>A (p.Gly7694Asp) c.18548G>A (p.Gly6183Asp) c.1814G>A (p.Gly605Asp) c.25286G>A (p.Gly8429Asp) c.25235G>A (p.Gly8412Asp) c.25088G>A (p.Gly8363Asp) | dbSNP |
| 6 | g.152141242C>A | CA366081403 | SYNE1 | c.1741G>T (p.Gly581Cys) c.25207G>T (p.Gly8403Cys) c.25063G>T (p.Gly8355Cys) c.609G>T c.942G>T c.891-1081G>T c.979G>T (p.Gly327Cys) c.23992G>T (p.Gly7998Cys) n.1955G>T c.4042G>T (p.Gly1348Cys) n.8899G>T c.3145G>T (p.Gly1049Cys) n.8791G>T n.1821G>T n.4229G>T n.2044G>T c.1672G>T (p.Gly558Cys) c.25312G>T (p.Gly8438Cys) c.25300G>T (p.Gly8434Cys) c.25291G>T (p.Gly8431Cys) c.25261G>T (p.Gly8421Cys) c.25297G>T (p.Gly8433Cys) c.25243G>T (p.Gly8415Cys) c.25240G>T (p.Gly8414Cys) c.25228G>T (p.Gly8410Cys) c.25171G>T (p.Gly8391Cys) c.25159G>T (p.Gly8387Cys) c.25156G>T (p.Gly8386Cys) c.25153G>T (p.Gly8385Cys) c.25309G>T (p.Gly8437Cys) c.25147G>T (p.Gly8383Cys) c.23587G>T (p.Gly7863Cys) c.23080G>T (p.Gly7694Cys) c.18547G>T (p.Gly6183Cys) c.1813G>T (p.Gly605Cys) c.25285G>T (p.Gly8429Cys) c.25234G>T (p.Gly8412Cys) c.25087G>T (p.Gly8363Cys) | |
| 6 | g.152141242C>G | CA366081393 | SYNE1 | c.1741G>C (p.Gly581Arg) c.25207G>C (p.Gly8403Arg) c.25063G>C (p.Gly8355Arg) c.609G>C c.942G>C c.891-1081G>C c.979G>C (p.Gly327Arg) c.23992G>C (p.Gly7998Arg) n.1955G>C c.4042G>C (p.Gly1348Arg) n.8899G>C c.3145G>C (p.Gly1049Arg) n.8791G>C n.1821G>C n.4229G>C n.2044G>C c.1672G>C (p.Gly558Arg) c.25312G>C (p.Gly8438Arg) c.25300G>C (p.Gly8434Arg) c.25291G>C (p.Gly8431Arg) c.25261G>C (p.Gly8421Arg) c.25297G>C (p.Gly8433Arg) c.25243G>C (p.Gly8415Arg) c.25240G>C (p.Gly8414Arg) c.25228G>C (p.Gly8410Arg) c.25171G>C (p.Gly8391Arg) c.25159G>C (p.Gly8387Arg) c.25156G>C (p.Gly8386Arg) c.25153G>C (p.Gly8385Arg) c.25309G>C (p.Gly8437Arg) c.25147G>C (p.Gly8383Arg) c.23587G>C (p.Gly7863Arg) c.23080G>C (p.Gly7694Arg) c.18547G>C (p.Gly6183Arg) c.1813G>C (p.Gly605Arg) c.25285G>C (p.Gly8429Arg) c.25234G>C (p.Gly8412Arg) c.25087G>C (p.Gly8363Arg) | |
| 6 | g.152141242C>T | CA366081391 | SYNE1 | c.1741G>A (p.Gly581Ser) c.25207G>A (p.Gly8403Ser) c.25063G>A (p.Gly8355Ser) c.609G>A c.942G>A c.891-1081G>A c.979G>A (p.Gly327Ser) c.23992G>A (p.Gly7998Ser) n.1955G>A c.4042G>A (p.Gly1348Ser) n.8899G>A c.3145G>A (p.Gly1049Ser) n.8791G>A n.1821G>A n.4229G>A n.2044G>A c.1672G>A (p.Gly558Ser) c.25312G>A (p.Gly8438Ser) c.25300G>A (p.Gly8434Ser) c.25291G>A (p.Gly8431Ser) c.25261G>A (p.Gly8421Ser) c.25297G>A (p.Gly8433Ser) c.25243G>A (p.Gly8415Ser) c.25240G>A (p.Gly8414Ser) c.25228G>A (p.Gly8410Ser) c.25171G>A (p.Gly8391Ser) c.25159G>A (p.Gly8387Ser) c.25156G>A (p.Gly8386Ser) c.25153G>A (p.Gly8385Ser) c.25309G>A (p.Gly8437Ser) c.25147G>A (p.Gly8383Ser) c.23587G>A (p.Gly7863Ser) c.23080G>A (p.Gly7694Ser) c.18547G>A (p.Gly6183Ser) c.1813G>A (p.Gly605Ser) c.25285G>A (p.Gly8429Ser) c.25234G>A (p.Gly8412Ser) c.25087G>A (p.Gly8363Ser) | |
| 6 | g.152141243A>C | CA452747094 | SYNE1 | c.1740T>G (p.Pro580=) c.25206T>G (p.Pro8402=) c.25062T>G (p.Pro8354=) c.608T>G c.941T>G c.891-1082T>G c.978T>G (p.Pro326=) c.23991T>G (p.Pro7997=) n.1954T>G c.4041T>G (p.Pro1347=) n.8898T>G c.3144T>G (p.Pro1048=) n.8790T>G n.1820T>G n.4228T>G n.2043T>G c.1671T>G (p.Pro557=) c.25311T>G (p.Pro8437=) c.25299T>G (p.Pro8433=) c.25290T>G (p.Pro8430=) c.25260T>G (p.Pro8420=) c.25296T>G (p.Pro8432=) c.25242T>G (p.Pro8414=) c.25239T>G (p.Pro8413=) c.25227T>G (p.Pro8409=) c.25170T>G (p.Pro8390=) c.25158T>G (p.Pro8386=) c.25155T>G (p.Pro8385=) c.25152T>G (p.Pro8384=) c.25308T>G (p.Pro8436=) c.25146T>G (p.Pro8382=) c.23586T>G (p.Pro7862=) c.23079T>G (p.Pro7693=) c.18546T>G (p.Pro6182=) c.1812T>G (p.Pro604=) c.25284T>G (p.Pro8428=) c.25233T>G (p.Pro8411=) c.25086T>G (p.Pro8362=) | |
| 6 | g.152141243A>G | CA452747096 | SYNE1 | c.1740T>C (p.Pro580=) c.25206T>C (p.Pro8402=) c.25062T>C (p.Pro8354=) c.608T>C c.941T>C c.891-1082T>C c.978T>C (p.Pro326=) c.23991T>C (p.Pro7997=) n.1954T>C c.4041T>C (p.Pro1347=) n.8898T>C c.3144T>C (p.Pro1048=) n.8790T>C n.1820T>C n.4228T>C n.2043T>C c.1671T>C (p.Pro557=) c.25311T>C (p.Pro8437=) c.25299T>C (p.Pro8433=) c.25290T>C (p.Pro8430=) c.25260T>C (p.Pro8420=) c.25296T>C (p.Pro8432=) c.25242T>C (p.Pro8414=) c.25239T>C (p.Pro8413=) c.25227T>C (p.Pro8409=) c.25170T>C (p.Pro8390=) c.25158T>C (p.Pro8386=) c.25155T>C (p.Pro8385=) c.25152T>C (p.Pro8384=) c.25308T>C (p.Pro8436=) c.25146T>C (p.Pro8382=) c.23586T>C (p.Pro7862=) c.23079T>C (p.Pro7693=) c.18546T>C (p.Pro6182=) c.1812T>C (p.Pro604=) c.25284T>C (p.Pro8428=) c.25233T>C (p.Pro8411=) c.25086T>C (p.Pro8362=) | gnomAD v4 |
| 6 | g.152141243A>T | CA452747095 | SYNE1 | c.1740T>A (p.Pro580=) c.25206T>A (p.Pro8402=) c.25062T>A (p.Pro8354=) c.608T>A c.941T>A c.891-1082T>A c.978T>A (p.Pro326=) c.23991T>A (p.Pro7997=) n.1954T>A c.4041T>A (p.Pro1347=) n.8898T>A c.3144T>A (p.Pro1048=) n.8790T>A n.1820T>A n.4228T>A n.2043T>A c.1671T>A (p.Pro557=) c.25311T>A (p.Pro8437=) c.25299T>A (p.Pro8433=) c.25290T>A (p.Pro8430=) c.25260T>A (p.Pro8420=) c.25296T>A (p.Pro8432=) c.25242T>A (p.Pro8414=) c.25239T>A (p.Pro8413=) c.25227T>A (p.Pro8409=) c.25170T>A (p.Pro8390=) c.25158T>A (p.Pro8386=) c.25155T>A (p.Pro8385=) c.25152T>A (p.Pro8384=) c.25308T>A (p.Pro8436=) c.25146T>A (p.Pro8382=) c.23586T>A (p.Pro7862=) c.23079T>A (p.Pro7693=) c.18546T>A (p.Pro6182=) c.1812T>A (p.Pro604=) c.25284T>A (p.Pro8428=) c.25233T>A (p.Pro8411=) c.25086T>A (p.Pro8362=) | |
| 6 | g.152141244G>A | CA366081404 | SYNE1 | c.1739C>T (p.Pro580Leu) c.25205C>T (p.Pro8402Leu) c.25061C>T (p.Pro8354Leu) c.607C>T c.940C>T c.891-1083C>T c.977C>T (p.Pro326Leu) c.23990C>T (p.Pro7997Leu) n.1953C>T c.4040C>T (p.Pro1347Leu) n.8897C>T c.3143C>T (p.Pro1048Leu) n.8789C>T n.1819C>T n.4227C>T n.2042C>T c.1670C>T (p.Pro557Leu) c.25310C>T (p.Pro8437Leu) c.25298C>T (p.Pro8433Leu) c.25289C>T (p.Pro8430Leu) c.25259C>T (p.Pro8420Leu) c.25295C>T (p.Pro8432Leu) c.25241C>T (p.Pro8414Leu) c.25238C>T (p.Pro8413Leu) c.25226C>T (p.Pro8409Leu) c.25169C>T (p.Pro8390Leu) c.25157C>T (p.Pro8386Leu) c.25154C>T (p.Pro8385Leu) c.25151C>T (p.Pro8384Leu) c.25307C>T (p.Pro8436Leu) c.25145C>T (p.Pro8382Leu) c.23585C>T (p.Pro7862Leu) c.23078C>T (p.Pro7693Leu) c.18545C>T (p.Pro6182Leu) c.1811C>T (p.Pro604Leu) c.25283C>T (p.Pro8428Leu) c.25232C>T (p.Pro8411Leu) c.25085C>T (p.Pro8362Leu) | |
| 6 | g.152141244G>C | CA366081406 | SYNE1 | c.1739C>G (p.Pro580Arg) c.25205C>G (p.Pro8402Arg) c.25061C>G (p.Pro8354Arg) c.607C>G c.940C>G c.891-1083C>G c.977C>G (p.Pro326Arg) c.23990C>G (p.Pro7997Arg) n.1953C>G c.4040C>G (p.Pro1347Arg) n.8897C>G c.3143C>G (p.Pro1048Arg) n.8789C>G n.1819C>G n.4227C>G n.2042C>G c.1670C>G (p.Pro557Arg) c.25310C>G (p.Pro8437Arg) c.25298C>G (p.Pro8433Arg) c.25289C>G (p.Pro8430Arg) c.25259C>G (p.Pro8420Arg) c.25295C>G (p.Pro8432Arg) c.25241C>G (p.Pro8414Arg) c.25238C>G (p.Pro8413Arg) c.25226C>G (p.Pro8409Arg) c.25169C>G (p.Pro8390Arg) c.25157C>G (p.Pro8386Arg) c.25154C>G (p.Pro8385Arg) c.25151C>G (p.Pro8384Arg) c.25307C>G (p.Pro8436Arg) c.25145C>G (p.Pro8382Arg) c.23585C>G (p.Pro7862Arg) c.23078C>G (p.Pro7693Arg) c.18545C>G (p.Pro6182Arg) c.1811C>G (p.Pro604Arg) c.25283C>G (p.Pro8428Arg) c.25232C>G (p.Pro8411Arg) c.25085C>G (p.Pro8362Arg) | |
| 6 | g.152141244G>T | CA366081408 | SYNE1 | c.1739C>A (p.Pro580His) c.25205C>A (p.Pro8402His) c.25061C>A (p.Pro8354His) c.607C>A c.940C>A c.891-1083C>A c.977C>A (p.Pro326His) c.23990C>A (p.Pro7997His) n.1953C>A c.4040C>A (p.Pro1347His) n.8897C>A c.3143C>A (p.Pro1048His) n.8789C>A n.1819C>A n.4227C>A n.2042C>A c.1670C>A (p.Pro557His) c.25310C>A (p.Pro8437His) c.25298C>A (p.Pro8433His) c.25289C>A (p.Pro8430His) c.25259C>A (p.Pro8420His) c.25295C>A (p.Pro8432His) c.25241C>A (p.Pro8414His) c.25238C>A (p.Pro8413His) c.25226C>A (p.Pro8409His) c.25169C>A (p.Pro8390His) c.25157C>A (p.Pro8386His) c.25154C>A (p.Pro8385His) c.25151C>A (p.Pro8384His) c.25307C>A (p.Pro8436His) c.25145C>A (p.Pro8382His) c.23585C>A (p.Pro7862His) c.23078C>A (p.Pro7693His) c.18545C>A (p.Pro6182His) c.1811C>A (p.Pro604His) c.25283C>A (p.Pro8428His) c.25232C>A (p.Pro8411His) c.25085C>A (p.Pro8362His) | |
| 6 | g.152141245G>A | CA150166690 | SYNE1 | c.1738C>T (p.Pro580Ser) c.25204C>T (p.Pro8402Ser) c.25060C>T (p.Pro8354Ser) c.606C>T c.939C>T c.891-1084C>T c.976C>T (p.Pro326Ser) c.23989C>T (p.Pro7997Ser) n.1952C>T c.4039C>T (p.Pro1347Ser) n.8896C>T c.3142C>T (p.Pro1048Ser) n.8788C>T n.1818C>T n.4226C>T n.2041C>T c.1669C>T (p.Pro557Ser) c.25309C>T (p.Pro8437Ser) c.25297C>T (p.Pro8433Ser) c.25288C>T (p.Pro8430Ser) c.25258C>T (p.Pro8420Ser) c.25294C>T (p.Pro8432Ser) c.25240C>T (p.Pro8414Ser) c.25237C>T (p.Pro8413Ser) c.25225C>T (p.Pro8409Ser) c.25168C>T (p.Pro8390Ser) c.25156C>T (p.Pro8386Ser) c.25153C>T (p.Pro8385Ser) c.25150C>T (p.Pro8384Ser) c.25306C>T (p.Pro8436Ser) c.25144C>T (p.Pro8382Ser) c.23584C>T (p.Pro7862Ser) c.23077C>T (p.Pro7693Ser) c.18544C>T (p.Pro6182Ser) c.1810C>T (p.Pro604Ser) c.25282C>T (p.Pro8428Ser) c.25231C>T (p.Pro8411Ser) c.25084C>T (p.Pro8362Ser) | dbSNP gnomAD v4 |
| 6 | g.152141245G>C | CA366081412 | SYNE1 | c.1738C>G (p.Pro580Ala) c.25204C>G (p.Pro8402Ala) c.25060C>G (p.Pro8354Ala) c.606C>G c.939C>G c.891-1084C>G c.976C>G (p.Pro326Ala) c.23989C>G (p.Pro7997Ala) n.1952C>G c.4039C>G (p.Pro1347Ala) n.8896C>G c.3142C>G (p.Pro1048Ala) n.8788C>G n.1818C>G n.4226C>G n.2041C>G c.1669C>G (p.Pro557Ala) c.25309C>G (p.Pro8437Ala) c.25297C>G (p.Pro8433Ala) c.25288C>G (p.Pro8430Ala) c.25258C>G (p.Pro8420Ala) c.25294C>G (p.Pro8432Ala) c.25240C>G (p.Pro8414Ala) c.25237C>G (p.Pro8413Ala) c.25225C>G (p.Pro8409Ala) c.25168C>G (p.Pro8390Ala) c.25156C>G (p.Pro8386Ala) c.25153C>G (p.Pro8385Ala) c.25150C>G (p.Pro8384Ala) c.25306C>G (p.Pro8436Ala) c.25144C>G (p.Pro8382Ala) c.23584C>G (p.Pro7862Ala) c.23077C>G (p.Pro7693Ala) c.18544C>G (p.Pro6182Ala) c.1810C>G (p.Pro604Ala) c.25282C>G (p.Pro8428Ala) c.25231C>G (p.Pro8411Ala) c.25084C>G (p.Pro8362Ala) | |
| 6 | g.152141245G= | CA1673207627 | SYNE1 | c.1738C= (p.Pro580=) c.25204C= (p.Pro8402=) c.25060C= (p.Pro8354=) c.606C= c.939C= c.891-1084C= c.976C= (p.Pro326=) c.23989C= (p.Pro7997=) n.1952C= c.4039C= (p.Pro1347=) n.8896C= c.3142C= (p.Pro1048=) n.8788C= n.1818C= n.4226C= n.2041C= c.1669C= (p.Pro557=) c.25309C= (p.Pro8437=) c.25297C= (p.Pro8433=) c.25288C= (p.Pro8430=) c.25258C= (p.Pro8420=) c.25294C= (p.Pro8432=) c.25240C= (p.Pro8414=) c.25237C= (p.Pro8413=) c.25225C= (p.Pro8409=) c.25168C= (p.Pro8390=) c.25156C= (p.Pro8386=) c.25153C= (p.Pro8385=) c.25150C= (p.Pro8384=) c.25306C= (p.Pro8436=) c.25144C= (p.Pro8382=) c.23584C= (p.Pro7862=) c.23077C= (p.Pro7693=) c.18544C= (p.Pro6182=) c.1810C= (p.Pro604=) c.25282C= (p.Pro8428=) c.25231C= (p.Pro8411=) c.25084C= (p.Pro8362=) | |
| 6 | g.152141245G>T | CA366081417 | SYNE1 | c.1738C>A (p.Pro580Thr) c.25204C>A (p.Pro8402Thr) c.25060C>A (p.Pro8354Thr) c.606C>A c.939C>A c.891-1084C>A c.976C>A (p.Pro326Thr) c.23989C>A (p.Pro7997Thr) n.1952C>A c.4039C>A (p.Pro1347Thr) n.8896C>A c.3142C>A (p.Pro1048Thr) n.8788C>A n.1818C>A n.4226C>A n.2041C>A c.1669C>A (p.Pro557Thr) c.25309C>A (p.Pro8437Thr) c.25297C>A (p.Pro8433Thr) c.25288C>A (p.Pro8430Thr) c.25258C>A (p.Pro8420Thr) c.25294C>A (p.Pro8432Thr) c.25240C>A (p.Pro8414Thr) c.25237C>A (p.Pro8413Thr) c.25225C>A (p.Pro8409Thr) c.25168C>A (p.Pro8390Thr) c.25156C>A (p.Pro8386Thr) c.25153C>A (p.Pro8385Thr) c.25150C>A (p.Pro8384Thr) c.25306C>A (p.Pro8436Thr) c.25144C>A (p.Pro8382Thr) c.23584C>A (p.Pro7862Thr) c.23077C>A (p.Pro7693Thr) c.18544C>A (p.Pro6182Thr) c.1810C>A (p.Pro604Thr) c.25282C>A (p.Pro8428Thr) c.25231C>A (p.Pro8411Thr) c.25084C>A (p.Pro8362Thr) | |
| 6 | g.152141246A>C | CA452747097 | SYNE1 | c.1737T>G (p.Leu579=) c.25203T>G (p.Leu8401=) c.25059T>G (p.Leu8353=) c.605T>G c.938T>G c.891-1085T>G c.975T>G (p.Leu325=) c.23988T>G (p.Leu7996=) n.1951T>G c.4038T>G (p.Leu1346=) n.8895T>G c.3141T>G (p.Leu1047=) n.8787T>G n.1817T>G n.4225T>G n.2040T>G c.1668T>G (p.Leu556=) c.25308T>G (p.Leu8436=) c.25296T>G (p.Leu8432=) c.25287T>G (p.Leu8429=) c.25257T>G (p.Leu8419=) c.25293T>G (p.Leu8431=) c.25239T>G (p.Leu8413=) c.25236T>G (p.Leu8412=) c.25224T>G (p.Leu8408=) c.25167T>G (p.Leu8389=) c.25155T>G (p.Leu8385=) c.25152T>G (p.Leu8384=) c.25149T>G (p.Leu8383=) c.25305T>G (p.Leu8435=) c.25143T>G (p.Leu8381=) c.23583T>G (p.Leu7861=) c.23076T>G (p.Leu7692=) c.18543T>G (p.Leu6181=) c.1809T>G (p.Leu603=) c.25281T>G (p.Leu8427=) c.25230T>G (p.Leu8410=) c.25083T>G (p.Leu8361=) | |
| 6 | g.152141246A>G | CA452747098 | SYNE1 | c.1737T>C (p.Leu579=) c.25203T>C (p.Leu8401=) c.25059T>C (p.Leu8353=) c.605T>C c.938T>C c.891-1085T>C c.975T>C (p.Leu325=) c.23988T>C (p.Leu7996=) n.1951T>C c.4038T>C (p.Leu1346=) n.8895T>C c.3141T>C (p.Leu1047=) n.8787T>C n.1817T>C n.4225T>C n.2040T>C c.1668T>C (p.Leu556=) c.25308T>C (p.Leu8436=) c.25296T>C (p.Leu8432=) c.25287T>C (p.Leu8429=) c.25257T>C (p.Leu8419=) c.25293T>C (p.Leu8431=) c.25239T>C (p.Leu8413=) c.25236T>C (p.Leu8412=) c.25224T>C (p.Leu8408=) c.25167T>C (p.Leu8389=) c.25155T>C (p.Leu8385=) c.25152T>C (p.Leu8384=) c.25149T>C (p.Leu8383=) c.25305T>C (p.Leu8435=) c.25143T>C (p.Leu8381=) c.23583T>C (p.Leu7861=) c.23076T>C (p.Leu7692=) c.18543T>C (p.Leu6181=) c.1809T>C (p.Leu603=) c.25281T>C (p.Leu8427=) c.25230T>C (p.Leu8410=) c.25083T>C (p.Leu8361=) | gnomAD v4 |
| 6 | g.152141246A>T | CA452747099 | SYNE1 | c.1737T>A (p.Leu579=) c.25203T>A (p.Leu8401=) c.25059T>A (p.Leu8353=) c.605T>A c.938T>A c.891-1085T>A c.975T>A (p.Leu325=) c.23988T>A (p.Leu7996=) n.1951T>A c.4038T>A (p.Leu1346=) n.8895T>A c.3141T>A (p.Leu1047=) n.8787T>A n.1817T>A n.4225T>A n.2040T>A c.1668T>A (p.Leu556=) c.25308T>A (p.Leu8436=) c.25296T>A (p.Leu8432=) c.25287T>A (p.Leu8429=) c.25257T>A (p.Leu8419=) c.25293T>A (p.Leu8431=) c.25239T>A (p.Leu8413=) c.25236T>A (p.Leu8412=) c.25224T>A (p.Leu8408=) c.25167T>A (p.Leu8389=) c.25155T>A (p.Leu8385=) c.25152T>A (p.Leu8384=) c.25149T>A (p.Leu8383=) c.25305T>A (p.Leu8435=) c.25143T>A (p.Leu8381=) c.23583T>A (p.Leu7861=) c.23076T>A (p.Leu7692=) c.18543T>A (p.Leu6181=) c.1809T>A (p.Leu603=) c.25281T>A (p.Leu8427=) c.25230T>A (p.Leu8410=) c.25083T>A (p.Leu8361=) | |
| 6 | g.152141247A= | CA1673207632 | SYNE1 | c.1736T= (p.Leu579=) c.25202T= (p.Leu8401=) c.25058T= (p.Leu8353=) c.604T= c.937T= c.891-1086T= c.974T= (p.Leu325=) c.23987T= (p.Leu7996=) n.1950T= c.4037T= (p.Leu1346=) n.8894T= c.3140T= (p.Leu1047=) n.8786T= n.1816T= n.4224T= n.2039T= c.1667T= (p.Leu556=) c.25307T= (p.Leu8436=) c.25295T= (p.Leu8432=) c.25286T= (p.Leu8429=) c.25256T= (p.Leu8419=) c.25292T= (p.Leu8431=) c.25238T= (p.Leu8413=) c.25235T= (p.Leu8412=) c.25223T= (p.Leu8408=) c.25166T= (p.Leu8389=) c.25154T= (p.Leu8385=) c.25151T= (p.Leu8384=) c.25148T= (p.Leu8383=) c.25304T= (p.Leu8435=) c.25142T= (p.Leu8381=) c.23582T= (p.Leu7861=) c.23075T= (p.Leu7692=) c.18542T= (p.Leu6181=) c.1808T= (p.Leu603=) c.25280T= (p.Leu8427=) c.25229T= (p.Leu8410=) c.25082T= (p.Leu8361=) | |
| 6 | g.152141247A>C | CA366081421 | SYNE1 | c.1736T>G (p.Leu579Arg) c.25202T>G (p.Leu8401Arg) c.25058T>G (p.Leu8353Arg) c.604T>G c.937T>G c.891-1086T>G c.974T>G (p.Leu325Arg) c.23987T>G (p.Leu7996Arg) n.1950T>G c.4037T>G (p.Leu1346Arg) n.8894T>G c.3140T>G (p.Leu1047Arg) n.8786T>G n.1816T>G n.4224T>G n.2039T>G c.1667T>G (p.Leu556Arg) c.25307T>G (p.Leu8436Arg) c.25295T>G (p.Leu8432Arg) c.25286T>G (p.Leu8429Arg) c.25256T>G (p.Leu8419Arg) c.25292T>G (p.Leu8431Arg) c.25238T>G (p.Leu8413Arg) c.25235T>G (p.Leu8412Arg) c.25223T>G (p.Leu8408Arg) c.25166T>G (p.Leu8389Arg) c.25154T>G (p.Leu8385Arg) c.25151T>G (p.Leu8384Arg) c.25148T>G (p.Leu8383Arg) c.25304T>G (p.Leu8435Arg) c.25142T>G (p.Leu8381Arg) c.23582T>G (p.Leu7861Arg) c.23075T>G (p.Leu7692Arg) c.18542T>G (p.Leu6181Arg) c.1808T>G (p.Leu603Arg) c.25280T>G (p.Leu8427Arg) c.25229T>G (p.Leu8410Arg) c.25082T>G (p.Leu8361Arg) | |
| 6 | g.152141247A>G | CA366081418 | SYNE1 | c.1736T>C (p.Leu579Pro) c.25202T>C (p.Leu8401Pro) c.25058T>C (p.Leu8353Pro) c.604T>C c.937T>C c.891-1086T>C c.974T>C (p.Leu325Pro) c.23987T>C (p.Leu7996Pro) n.1950T>C c.4037T>C (p.Leu1346Pro) n.8894T>C c.3140T>C (p.Leu1047Pro) n.8786T>C n.1816T>C n.4224T>C n.2039T>C c.1667T>C (p.Leu556Pro) c.25307T>C (p.Leu8436Pro) c.25295T>C (p.Leu8432Pro) c.25286T>C (p.Leu8429Pro) c.25256T>C (p.Leu8419Pro) c.25292T>C (p.Leu8431Pro) c.25238T>C (p.Leu8413Pro) c.25235T>C (p.Leu8412Pro) c.25223T>C (p.Leu8408Pro) c.25166T>C (p.Leu8389Pro) c.25154T>C (p.Leu8385Pro) c.25151T>C (p.Leu8384Pro) c.25148T>C (p.Leu8383Pro) c.25304T>C (p.Leu8435Pro) c.25142T>C (p.Leu8381Pro) c.23582T>C (p.Leu7861Pro) c.23075T>C (p.Leu7692Pro) c.18542T>C (p.Leu6181Pro) c.1808T>C (p.Leu603Pro) c.25280T>C (p.Leu8427Pro) c.25229T>C (p.Leu8410Pro) c.25082T>C (p.Leu8361Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152141247A>T | CA366081420 | SYNE1 | c.1736T>A (p.Leu579His) c.25202T>A (p.Leu8401His) c.25058T>A (p.Leu8353His) c.604T>A c.937T>A c.891-1086T>A c.974T>A (p.Leu325His) c.23987T>A (p.Leu7996His) n.1950T>A c.4037T>A (p.Leu1346His) n.8894T>A c.3140T>A (p.Leu1047His) n.8786T>A n.1816T>A n.4224T>A n.2039T>A c.1667T>A (p.Leu556His) c.25307T>A (p.Leu8436His) c.25295T>A (p.Leu8432His) c.25286T>A (p.Leu8429His) c.25256T>A (p.Leu8419His) c.25292T>A (p.Leu8431His) c.25238T>A (p.Leu8413His) c.25235T>A (p.Leu8412His) c.25223T>A (p.Leu8408His) c.25166T>A (p.Leu8389His) c.25154T>A (p.Leu8385His) c.25151T>A (p.Leu8384His) c.25148T>A (p.Leu8383His) c.25304T>A (p.Leu8435His) c.25142T>A (p.Leu8381His) c.23582T>A (p.Leu7861His) c.23075T>A (p.Leu7692His) c.18542T>A (p.Leu6181His) c.1808T>A (p.Leu603His) c.25280T>A (p.Leu8427His) c.25229T>A (p.Leu8410His) c.25082T>A (p.Leu8361His) | |
| 6 | g.152141248G>A | CA366081423 | SYNE1 | c.1735C>T (p.Leu579Phe) c.25201C>T (p.Leu8401Phe) c.25057C>T (p.Leu8353Phe) c.603C>T c.936C>T c.891-1087C>T c.973C>T (p.Leu325Phe) c.23986C>T (p.Leu7996Phe) n.1949C>T c.4036C>T (p.Leu1346Phe) n.8893C>T c.3139C>T (p.Leu1047Phe) n.8785C>T n.1815C>T n.4223C>T n.2038C>T c.1666C>T (p.Leu556Phe) c.25306C>T (p.Leu8436Phe) c.25294C>T (p.Leu8432Phe) c.25285C>T (p.Leu8429Phe) c.25255C>T (p.Leu8419Phe) c.25291C>T (p.Leu8431Phe) c.25237C>T (p.Leu8413Phe) c.25234C>T (p.Leu8412Phe) c.25222C>T (p.Leu8408Phe) c.25165C>T (p.Leu8389Phe) c.25153C>T (p.Leu8385Phe) c.25150C>T (p.Leu8384Phe) c.25147C>T (p.Leu8383Phe) c.25303C>T (p.Leu8435Phe) c.25141C>T (p.Leu8381Phe) c.23581C>T (p.Leu7861Phe) c.23074C>T (p.Leu7692Phe) c.18541C>T (p.Leu6181Phe) c.1807C>T (p.Leu603Phe) c.25279C>T (p.Leu8427Phe) c.25228C>T (p.Leu8410Phe) c.25081C>T (p.Leu8361Phe) | ClinVar dbSNP |
| 6 | g.152141248G>C | CA366081425 | SYNE1 | c.1735C>G (p.Leu579Val) c.25201C>G (p.Leu8401Val) c.25057C>G (p.Leu8353Val) c.603C>G c.936C>G c.891-1087C>G c.973C>G (p.Leu325Val) c.23986C>G (p.Leu7996Val) n.1949C>G c.4036C>G (p.Leu1346Val) n.8893C>G c.3139C>G (p.Leu1047Val) n.8785C>G n.1815C>G n.4223C>G n.2038C>G c.1666C>G (p.Leu556Val) c.25306C>G (p.Leu8436Val) c.25294C>G (p.Leu8432Val) c.25285C>G (p.Leu8429Val) c.25255C>G (p.Leu8419Val) c.25291C>G (p.Leu8431Val) c.25237C>G (p.Leu8413Val) c.25234C>G (p.Leu8412Val) c.25222C>G (p.Leu8408Val) c.25165C>G (p.Leu8389Val) c.25153C>G (p.Leu8385Val) c.25150C>G (p.Leu8384Val) c.25147C>G (p.Leu8383Val) c.25303C>G (p.Leu8435Val) c.25141C>G (p.Leu8381Val) c.23581C>G (p.Leu7861Val) c.23074C>G (p.Leu7692Val) c.18541C>G (p.Leu6181Val) c.1807C>G (p.Leu603Val) c.25279C>G (p.Leu8427Val) c.25228C>G (p.Leu8410Val) c.25081C>G (p.Leu8361Val) | |
| 6 | g.152141248G= | CA1673207636 | SYNE1 | c.1735C= (p.Leu579=) c.25201C= (p.Leu8401=) c.25057C= (p.Leu8353=) c.603C= c.936C= c.891-1087C= c.973C= (p.Leu325=) c.23986C= (p.Leu7996=) n.1949C= c.4036C= (p.Leu1346=) n.8893C= c.3139C= (p.Leu1047=) n.8785C= n.1815C= n.4223C= n.2038C= c.1666C= (p.Leu556=) c.25306C= (p.Leu8436=) c.25294C= (p.Leu8432=) c.25285C= (p.Leu8429=) c.25255C= (p.Leu8419=) c.25291C= (p.Leu8431=) c.25237C= (p.Leu8413=) c.25234C= (p.Leu8412=) c.25222C= (p.Leu8408=) c.25165C= (p.Leu8389=) c.25153C= (p.Leu8385=) c.25150C= (p.Leu8384=) c.25147C= (p.Leu8383=) c.25303C= (p.Leu8435=) c.25141C= (p.Leu8381=) c.23581C= (p.Leu7861=) c.23074C= (p.Leu7692=) c.18541C= (p.Leu6181=) c.1807C= (p.Leu603=) c.25279C= (p.Leu8427=) c.25228C= (p.Leu8410=) c.25081C= (p.Leu8361=) | |
| 6 | g.152141248G>T | CA366081427 | SYNE1 | c.1735C>A (p.Leu579Ile) c.25201C>A (p.Leu8401Ile) c.25057C>A (p.Leu8353Ile) c.603C>A c.936C>A c.891-1087C>A c.973C>A (p.Leu325Ile) c.23986C>A (p.Leu7996Ile) n.1949C>A c.4036C>A (p.Leu1346Ile) n.8893C>A c.3139C>A (p.Leu1047Ile) n.8785C>A n.1815C>A n.4223C>A n.2038C>A c.1666C>A (p.Leu556Ile) c.25306C>A (p.Leu8436Ile) c.25294C>A (p.Leu8432Ile) c.25285C>A (p.Leu8429Ile) c.25255C>A (p.Leu8419Ile) c.25291C>A (p.Leu8431Ile) c.25237C>A (p.Leu8413Ile) c.25234C>A (p.Leu8412Ile) c.25222C>A (p.Leu8408Ile) c.25165C>A (p.Leu8389Ile) c.25153C>A (p.Leu8385Ile) c.25150C>A (p.Leu8384Ile) c.25147C>A (p.Leu8383Ile) c.25303C>A (p.Leu8435Ile) c.25141C>A (p.Leu8381Ile) c.23581C>A (p.Leu7861Ile) c.23074C>A (p.Leu7692Ile) c.18541C>A (p.Leu6181Ile) c.1807C>A (p.Leu603Ile) c.25279C>A (p.Leu8427Ile) c.25228C>A (p.Leu8410Ile) c.25081C>A (p.Leu8361Ile) | |
| 6 | g.152141249G>A | CA452747100 | SYNE1 | c.1734C>T (p.Ser578=) c.25200C>T (p.Ser8400=) c.25056C>T (p.Ser8352=) c.602C>T c.935C>T c.891-1088C>T c.972C>T (p.Ser324=) c.23985C>T (p.Ser7995=) n.1948C>T c.4035C>T (p.Ser1345=) n.8892C>T c.3138C>T (p.Ser1046=) n.8784C>T n.1814C>T n.4222C>T n.2037C>T c.1665C>T (p.Ser555=) c.25305C>T (p.Ser8435=) c.25293C>T (p.Ser8431=) c.25284C>T (p.Ser8428=) c.25254C>T (p.Ser8418=) c.25290C>T (p.Ser8430=) c.25236C>T (p.Ser8412=) c.25233C>T (p.Ser8411=) c.25221C>T (p.Ser8407=) c.25164C>T (p.Ser8388=) c.25152C>T (p.Ser8384=) c.25149C>T (p.Ser8383=) c.25146C>T (p.Ser8382=) c.25302C>T (p.Ser8434=) c.25140C>T (p.Ser8380=) c.23580C>T (p.Ser7860=) c.23073C>T (p.Ser7691=) c.18540C>T (p.Ser6180=) c.1806C>T (p.Ser602=) c.25278C>T (p.Ser8426=) c.25227C>T (p.Ser8409=) c.25080C>T (p.Ser8360=) | gnomAD v4 |
| 6 | g.152141249G>C | CA366081429 | SYNE1 | c.1734C>G (p.Ser578Arg) c.25200C>G (p.Ser8400Arg) c.25056C>G (p.Ser8352Arg) c.602C>G c.935C>G c.891-1088C>G c.972C>G (p.Ser324Arg) c.23985C>G (p.Ser7995Arg) n.1948C>G c.4035C>G (p.Ser1345Arg) n.8892C>G c.3138C>G (p.Ser1046Arg) n.8784C>G n.1814C>G n.4222C>G n.2037C>G c.1665C>G (p.Ser555Arg) c.25305C>G (p.Ser8435Arg) c.25293C>G (p.Ser8431Arg) c.25284C>G (p.Ser8428Arg) c.25254C>G (p.Ser8418Arg) c.25290C>G (p.Ser8430Arg) c.25236C>G (p.Ser8412Arg) c.25233C>G (p.Ser8411Arg) c.25221C>G (p.Ser8407Arg) c.25164C>G (p.Ser8388Arg) c.25152C>G (p.Ser8384Arg) c.25149C>G (p.Ser8383Arg) c.25146C>G (p.Ser8382Arg) c.25302C>G (p.Ser8434Arg) c.25140C>G (p.Ser8380Arg) c.23580C>G (p.Ser7860Arg) c.23073C>G (p.Ser7691Arg) c.18540C>G (p.Ser6180Arg) c.1806C>G (p.Ser602Arg) c.25278C>G (p.Ser8426Arg) c.25227C>G (p.Ser8409Arg) c.25080C>G (p.Ser8360Arg) | |
| 6 | g.152141249G>T | CA366081430 | SYNE1 | c.1734C>A (p.Ser578Arg) c.25200C>A (p.Ser8400Arg) c.25056C>A (p.Ser8352Arg) c.602C>A c.935C>A c.891-1088C>A c.972C>A (p.Ser324Arg) c.23985C>A (p.Ser7995Arg) n.1948C>A c.4035C>A (p.Ser1345Arg) n.8892C>A c.3138C>A (p.Ser1046Arg) n.8784C>A n.1814C>A n.4222C>A n.2037C>A c.1665C>A (p.Ser555Arg) c.25305C>A (p.Ser8435Arg) c.25293C>A (p.Ser8431Arg) c.25284C>A (p.Ser8428Arg) c.25254C>A (p.Ser8418Arg) c.25290C>A (p.Ser8430Arg) c.25236C>A (p.Ser8412Arg) c.25233C>A (p.Ser8411Arg) c.25221C>A (p.Ser8407Arg) c.25164C>A (p.Ser8388Arg) c.25152C>A (p.Ser8384Arg) c.25149C>A (p.Ser8383Arg) c.25146C>A (p.Ser8382Arg) c.25302C>A (p.Ser8434Arg) c.25140C>A (p.Ser8380Arg) c.23580C>A (p.Ser7860Arg) c.23073C>A (p.Ser7691Arg) c.18540C>A (p.Ser6180Arg) c.1806C>A (p.Ser602Arg) c.25278C>A (p.Ser8426Arg) c.25227C>A (p.Ser8409Arg) c.25080C>A (p.Ser8360Arg) | |
| 6 | g.152141250C>A | CA4052901 | SYNE1 | c.1733G>T (p.Ser578Ile) c.25199G>T (p.Ser8400Ile) c.25055G>T (p.Ser8352Ile) c.601G>T c.934G>T c.891-1089G>T c.971G>T (p.Ser324Ile) c.23984G>T (p.Ser7995Ile) n.1947G>T c.4034G>T (p.Ser1345Ile) n.8891G>T c.3137G>T (p.Ser1046Ile) n.8783G>T n.1813G>T n.4221G>T n.2036G>T c.1664G>T (p.Ser555Ile) c.25304G>T (p.Ser8435Ile) c.25292G>T (p.Ser8431Ile) c.25283G>T (p.Ser8428Ile) c.25253G>T (p.Ser8418Ile) c.25289G>T (p.Ser8430Ile) c.25235G>T (p.Ser8412Ile) c.25232G>T (p.Ser8411Ile) c.25220G>T (p.Ser8407Ile) c.25163G>T (p.Ser8388Ile) c.25151G>T (p.Ser8384Ile) c.25148G>T (p.Ser8383Ile) c.25145G>T (p.Ser8382Ile) c.25301G>T (p.Ser8434Ile) c.25139G>T (p.Ser8380Ile) c.23579G>T (p.Ser7860Ile) c.23072G>T (p.Ser7691Ile) c.18539G>T (p.Ser6180Ile) c.1805G>T (p.Ser602Ile) c.25277G>T (p.Ser8426Ile) c.25226G>T (p.Ser8409Ile) c.25079G>T (p.Ser8360Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.152141250C= | CA1673207640 | SYNE1 | c.1733G= (p.Ser578=) c.25199G= (p.Ser8400=) c.25055G= (p.Ser8352=) c.601G= c.934G= c.891-1089G= c.971G= (p.Ser324=) c.23984G= (p.Ser7995=) n.1947G= c.4034G= (p.Ser1345=) n.8891G= c.3137G= (p.Ser1046=) n.8783G= n.1813G= n.4221G= n.2036G= c.1664G= (p.Ser555=) c.25304G= (p.Ser8435=) c.25292G= (p.Ser8431=) c.25283G= (p.Ser8428=) c.25253G= (p.Ser8418=) c.25289G= (p.Ser8430=) c.25235G= (p.Ser8412=) c.25232G= (p.Ser8411=) c.25220G= (p.Ser8407=) c.25163G= (p.Ser8388=) c.25151G= (p.Ser8384=) c.25148G= (p.Ser8383=) c.25145G= (p.Ser8382=) c.25301G= (p.Ser8434=) c.25139G= (p.Ser8380=) c.23579G= (p.Ser7860=) c.23072G= (p.Ser7691=) c.18539G= (p.Ser6180=) c.1805G= (p.Ser602=) c.25277G= (p.Ser8426=) c.25226G= (p.Ser8409=) c.25079G= (p.Ser8360=) | |
| 6 | g.152141250C>G | CA366081434 | SYNE1 | c.1733G>C (p.Ser578Thr) c.25199G>C (p.Ser8400Thr) c.25055G>C (p.Ser8352Thr) c.601G>C c.934G>C c.891-1089G>C c.971G>C (p.Ser324Thr) c.23984G>C (p.Ser7995Thr) n.1947G>C c.4034G>C (p.Ser1345Thr) n.8891G>C c.3137G>C (p.Ser1046Thr) n.8783G>C n.1813G>C n.4221G>C n.2036G>C c.1664G>C (p.Ser555Thr) c.25304G>C (p.Ser8435Thr) c.25292G>C (p.Ser8431Thr) c.25283G>C (p.Ser8428Thr) c.25253G>C (p.Ser8418Thr) c.25289G>C (p.Ser8430Thr) c.25235G>C (p.Ser8412Thr) c.25232G>C (p.Ser8411Thr) c.25220G>C (p.Ser8407Thr) c.25163G>C (p.Ser8388Thr) c.25151G>C (p.Ser8384Thr) c.25148G>C (p.Ser8383Thr) c.25145G>C (p.Ser8382Thr) c.25301G>C (p.Ser8434Thr) c.25139G>C (p.Ser8380Thr) c.23579G>C (p.Ser7860Thr) c.23072G>C (p.Ser7691Thr) c.18539G>C (p.Ser6180Thr) c.1805G>C (p.Ser602Thr) c.25277G>C (p.Ser8426Thr) c.25226G>C (p.Ser8409Thr) c.25079G>C (p.Ser8360Thr) | |
| 6 | g.152141250C>T | CA4052900 | SYNE1 | c.1733G>A (p.Ser578Asn) c.25199G>A (p.Ser8400Asn) c.25055G>A (p.Ser8352Asn) c.601G>A c.934G>A c.891-1089G>A c.971G>A (p.Ser324Asn) c.23984G>A (p.Ser7995Asn) n.1947G>A c.4034G>A (p.Ser1345Asn) n.8891G>A c.3137G>A (p.Ser1046Asn) n.8783G>A n.1813G>A n.4221G>A n.2036G>A c.1664G>A (p.Ser555Asn) c.25304G>A (p.Ser8435Asn) c.25292G>A (p.Ser8431Asn) c.25283G>A (p.Ser8428Asn) c.25253G>A (p.Ser8418Asn) c.25289G>A (p.Ser8430Asn) c.25235G>A (p.Ser8412Asn) c.25232G>A (p.Ser8411Asn) c.25220G>A (p.Ser8407Asn) c.25163G>A (p.Ser8388Asn) c.25151G>A (p.Ser8384Asn) c.25148G>A (p.Ser8383Asn) c.25145G>A (p.Ser8382Asn) c.25301G>A (p.Ser8434Asn) c.25139G>A (p.Ser8380Asn) c.23579G>A (p.Ser7860Asn) c.23072G>A (p.Ser7691Asn) c.18539G>A (p.Ser6180Asn) c.1805G>A (p.Ser602Asn) c.25277G>A (p.Ser8426Asn) c.25226G>A (p.Ser8409Asn) c.25079G>A (p.Ser8360Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141251T>A | CA366081436 | SYNE1 | c.1732A>T (p.Ser578Cys) c.25198A>T (p.Ser8400Cys) c.25054A>T (p.Ser8352Cys) c.600A>T c.933A>T c.891-1090A>T c.970A>T (p.Ser324Cys) c.23983A>T (p.Ser7995Cys) n.1946A>T c.4033A>T (p.Ser1345Cys) n.8890A>T c.3136A>T (p.Ser1046Cys) n.8782A>T n.1812A>T n.4220A>T n.2035A>T c.1663A>T (p.Ser555Cys) c.25303A>T (p.Ser8435Cys) c.25291A>T (p.Ser8431Cys) c.25282A>T (p.Ser8428Cys) c.25252A>T (p.Ser8418Cys) c.25288A>T (p.Ser8430Cys) c.25234A>T (p.Ser8412Cys) c.25231A>T (p.Ser8411Cys) c.25219A>T (p.Ser8407Cys) c.25162A>T (p.Ser8388Cys) c.25150A>T (p.Ser8384Cys) c.25147A>T (p.Ser8383Cys) c.25144A>T (p.Ser8382Cys) c.25300A>T (p.Ser8434Cys) c.25138A>T (p.Ser8380Cys) c.23578A>T (p.Ser7860Cys) c.23071A>T (p.Ser7691Cys) c.18538A>T (p.Ser6180Cys) c.1804A>T (p.Ser602Cys) c.25276A>T (p.Ser8426Cys) c.25225A>T (p.Ser8409Cys) c.25078A>T (p.Ser8360Cys) | |
| 6 | g.152141251T>C | CA366081438 | SYNE1 | c.1732A>G (p.Ser578Gly) c.25198A>G (p.Ser8400Gly) c.25054A>G (p.Ser8352Gly) c.600A>G c.933A>G c.891-1090A>G c.970A>G (p.Ser324Gly) c.23983A>G (p.Ser7995Gly) n.1946A>G c.4033A>G (p.Ser1345Gly) n.8890A>G c.3136A>G (p.Ser1046Gly) n.8782A>G n.1812A>G n.4220A>G n.2035A>G c.1663A>G (p.Ser555Gly) c.25303A>G (p.Ser8435Gly) c.25291A>G (p.Ser8431Gly) c.25282A>G (p.Ser8428Gly) c.25252A>G (p.Ser8418Gly) c.25288A>G (p.Ser8430Gly) c.25234A>G (p.Ser8412Gly) c.25231A>G (p.Ser8411Gly) c.25219A>G (p.Ser8407Gly) c.25162A>G (p.Ser8388Gly) c.25150A>G (p.Ser8384Gly) c.25147A>G (p.Ser8383Gly) c.25144A>G (p.Ser8382Gly) c.25300A>G (p.Ser8434Gly) c.25138A>G (p.Ser8380Gly) c.23578A>G (p.Ser7860Gly) c.23071A>G (p.Ser7691Gly) c.18538A>G (p.Ser6180Gly) c.1804A>G (p.Ser602Gly) c.25276A>G (p.Ser8426Gly) c.25225A>G (p.Ser8409Gly) c.25078A>G (p.Ser8360Gly) | gnomAD v4 |
| 6 | g.152141251T>G | CA366081440 | SYNE1 | c.1732A>C (p.Ser578Arg) c.25198A>C (p.Ser8400Arg) c.25054A>C (p.Ser8352Arg) c.600A>C c.933A>C c.891-1090A>C c.970A>C (p.Ser324Arg) c.23983A>C (p.Ser7995Arg) n.1946A>C c.4033A>C (p.Ser1345Arg) n.8890A>C c.3136A>C (p.Ser1046Arg) n.8782A>C n.1812A>C n.4220A>C n.2035A>C c.1663A>C (p.Ser555Arg) c.25303A>C (p.Ser8435Arg) c.25291A>C (p.Ser8431Arg) c.25282A>C (p.Ser8428Arg) c.25252A>C (p.Ser8418Arg) c.25288A>C (p.Ser8430Arg) c.25234A>C (p.Ser8412Arg) c.25231A>C (p.Ser8411Arg) c.25219A>C (p.Ser8407Arg) c.25162A>C (p.Ser8388Arg) c.25150A>C (p.Ser8384Arg) c.25147A>C (p.Ser8383Arg) c.25144A>C (p.Ser8382Arg) c.25300A>C (p.Ser8434Arg) c.25138A>C (p.Ser8380Arg) c.23578A>C (p.Ser7860Arg) c.23071A>C (p.Ser7691Arg) c.18538A>C (p.Ser6180Arg) c.1804A>C (p.Ser602Arg) c.25276A>C (p.Ser8426Arg) c.25225A>C (p.Ser8409Arg) c.25078A>C (p.Ser8360Arg) | |
| 6 | g.152141251_152141254delinsTCTC | CA1673207645 | SYNE1 | c.1729_1732delinsGAGA (p.Glu577=) c.25195_25198delinsGAGA (p.Glu8399=) c.25051_25054delinsGAGA (p.Glu8351=) c.597_600delinsGAGA c.930_933delinsGAGA c.891-1093_891-1090delinsGAGA c.967_970delinsGAGA (p.Glu323=) c.23980_23983delinsGAGA (p.Glu7994=) n.1943_1946delinsGAGA c.4030_4033delinsGAGA (p.Glu1344=) n.8887_8890delinsGAGA c.3133_3136delinsGAGA (p.Glu1045=) n.8779_8782delinsGAGA n.1809_1812delinsGAGA n.4217_4220delinsGAGA n.2032_2035delinsGAGA c.1660_1663delinsGAGA (p.Glu554=) c.25300_25303delinsGAGA (p.Glu8434=) c.25288_25291delinsGAGA (p.Glu8430=) c.25279_25282delinsGAGA (p.Glu8427=) c.25249_25252delinsGAGA (p.Glu8417=) c.25285_25288delinsGAGA (p.Glu8429=) c.25231_25234delinsGAGA (p.Glu8411=) c.25228_25231delinsGAGA (p.Glu8410=) c.25216_25219delinsGAGA (p.Glu8406=) c.25159_25162delinsGAGA (p.Glu8387=) c.25147_25150delinsGAGA (p.Glu8383=) c.25144_25147delinsGAGA (p.Glu8382=) c.25141_25144delinsGAGA (p.Glu8381=) c.25297_25300delinsGAGA (p.Glu8433=) c.25135_25138delinsGAGA (p.Glu8379=) c.23575_23578delinsGAGA (p.Glu7859=) c.23068_23071delinsGAGA (p.Glu7690=) c.18535_18538delinsGAGA (p.Glu6179=) c.1801_1804delinsGAGA (p.Glu601=) c.25273_25276delinsGAGA (p.Glu8425=) c.25222_25225delinsGAGA (p.Glu8408=) c.25075_25078delinsGAGA (p.Glu8359=) | |
| 6 | g.152141252C>A | CA366081442 | SYNE1 | c.1731G>T (p.Glu577Asp) c.25197G>T (p.Glu8399Asp) c.25053G>T (p.Glu8351Asp) c.599G>T c.932G>T c.891-1091G>T c.969G>T (p.Glu323Asp) c.23982G>T (p.Glu7994Asp) n.1945G>T c.4032G>T (p.Glu1344Asp) n.8889G>T c.3135G>T (p.Glu1045Asp) n.8781G>T n.1811G>T n.4219G>T n.2034G>T c.1662G>T (p.Glu554Asp) c.25302G>T (p.Glu8434Asp) c.25290G>T (p.Glu8430Asp) c.25281G>T (p.Glu8427Asp) c.25251G>T (p.Glu8417Asp) c.25287G>T (p.Glu8429Asp) c.25233G>T (p.Glu8411Asp) c.25230G>T (p.Glu8410Asp) c.25218G>T (p.Glu8406Asp) c.25161G>T (p.Glu8387Asp) c.25149G>T (p.Glu8383Asp) c.25146G>T (p.Glu8382Asp) c.25143G>T (p.Glu8381Asp) c.25299G>T (p.Glu8433Asp) c.25137G>T (p.Glu8379Asp) c.23577G>T (p.Glu7859Asp) c.23070G>T (p.Glu7690Asp) c.18537G>T (p.Glu6179Asp) c.1803G>T (p.Glu601Asp) c.25275G>T (p.Glu8425Asp) c.25224G>T (p.Glu8408Asp) c.25077G>T (p.Glu8359Asp) | |
| 6 | g.152141252C= | CA1673207652 | SYNE1 | c.1731G= (p.Glu577=) c.25197G= (p.Glu8399=) c.25053G= (p.Glu8351=) c.599G= c.932G= c.891-1091G= c.969G= (p.Glu323=) c.23982G= (p.Glu7994=) n.1945G= c.4032G= (p.Glu1344=) n.8889G= c.3135G= (p.Glu1045=) n.8781G= n.1811G= n.4219G= n.2034G= c.1662G= (p.Glu554=) c.25302G= (p.Glu8434=) c.25290G= (p.Glu8430=) c.25281G= (p.Glu8427=) c.25251G= (p.Glu8417=) c.25287G= (p.Glu8429=) c.25233G= (p.Glu8411=) c.25230G= (p.Glu8410=) c.25218G= (p.Glu8406=) c.25161G= (p.Glu8387=) c.25149G= (p.Glu8383=) c.25146G= (p.Glu8382=) c.25143G= (p.Glu8381=) c.25299G= (p.Glu8433=) c.25137G= (p.Glu8379=) c.23577G= (p.Glu7859=) c.23070G= (p.Glu7690=) c.18537G= (p.Glu6179=) c.1803G= (p.Glu601=) c.25275G= (p.Glu8425=) c.25224G= (p.Glu8408=) c.25077G= (p.Glu8359=) | |
| 6 | g.152141252C>G | CA4052902 | SYNE1 | c.1731G>C (p.Glu577Asp) c.25197G>C (p.Glu8399Asp) c.25053G>C (p.Glu8351Asp) c.599G>C c.932G>C c.891-1091G>C c.969G>C (p.Glu323Asp) c.23982G>C (p.Glu7994Asp) n.1945G>C c.4032G>C (p.Glu1344Asp) n.8889G>C c.3135G>C (p.Glu1045Asp) n.8781G>C n.1811G>C n.4219G>C n.2034G>C c.1662G>C (p.Glu554Asp) c.25302G>C (p.Glu8434Asp) c.25290G>C (p.Glu8430Asp) c.25281G>C (p.Glu8427Asp) c.25251G>C (p.Glu8417Asp) c.25287G>C (p.Glu8429Asp) c.25233G>C (p.Glu8411Asp) c.25230G>C (p.Glu8410Asp) c.25218G>C (p.Glu8406Asp) c.25161G>C (p.Glu8387Asp) c.25149G>C (p.Glu8383Asp) c.25146G>C (p.Glu8382Asp) c.25143G>C (p.Glu8381Asp) c.25299G>C (p.Glu8433Asp) c.25137G>C (p.Glu8379Asp) c.23577G>C (p.Glu7859Asp) c.23070G>C (p.Glu7690Asp) c.18537G>C (p.Glu6179Asp) c.1803G>C (p.Glu601Asp) c.25275G>C (p.Glu8425Asp) c.25224G>C (p.Glu8408Asp) c.25077G>C (p.Glu8359Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141252C>T | CA452747101 | SYNE1 | c.1731G>A (p.Glu577=) c.25197G>A (p.Glu8399=) c.25053G>A (p.Glu8351=) c.599G>A c.932G>A c.891-1091G>A c.969G>A (p.Glu323=) c.23982G>A (p.Glu7994=) n.1945G>A c.4032G>A (p.Glu1344=) n.8889G>A c.3135G>A (p.Glu1045=) n.8781G>A n.1811G>A n.4219G>A n.2034G>A c.1662G>A (p.Glu554=) c.25302G>A (p.Glu8434=) c.25290G>A (p.Glu8430=) c.25281G>A (p.Glu8427=) c.25251G>A (p.Glu8417=) c.25287G>A (p.Glu8429=) c.25233G>A (p.Glu8411=) c.25230G>A (p.Glu8410=) c.25218G>A (p.Glu8406=) c.25161G>A (p.Glu8387=) c.25149G>A (p.Glu8383=) c.25146G>A (p.Glu8382=) c.25143G>A (p.Glu8381=) c.25299G>A (p.Glu8433=) c.25137G>A (p.Glu8379=) c.23577G>A (p.Glu7859=) c.23070G>A (p.Glu7690=) c.18537G>A (p.Glu6179=) c.1803G>A (p.Glu601=) c.25275G>A (p.Glu8425=) c.25224G>A (p.Glu8408=) c.25077G>A (p.Glu8359=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152141255_152141257del | CA1673207650 | SYNE1 | c.1729_1731del (p.Glu577del) c.25195_25197del (p.Glu8399del) c.25051_25053del (p.Glu8351del) c.597_599del c.930_932del c.891-1093_891-1091del c.967_969del (p.Glu323del) c.23980_23982del (p.Glu7994del) n.1943_1945del c.4030_4032del (p.Glu1344del) n.8887_8889del c.3133_3135del (p.Glu1045del) n.8779_8781del n.1809_1811del n.4217_4219del n.2032_2034del c.1660_1662del (p.Glu554del) c.25300_25302del (p.Glu8434del) c.25288_25290del (p.Glu8430del) c.25279_25281del (p.Glu8427del) c.25249_25251del (p.Glu8417del) c.25285_25287del (p.Glu8429del) c.25231_25233del (p.Glu8411del) c.25228_25230del (p.Glu8410del) c.25216_25218del (p.Glu8406del) c.25159_25161del (p.Glu8387del) c.25147_25149del (p.Glu8383del) c.25144_25146del (p.Glu8382del) c.25141_25143del (p.Glu8381del) c.25297_25299del (p.Glu8433del) c.25135_25137del (p.Glu8379del) c.23575_23577del (p.Glu7859del) c.23068_23070del (p.Glu7690del) c.18535_18537del (p.Glu6179del) c.1801_1803del (p.Glu601del) c.25273_25275del (p.Glu8425del) c.25222_25224del (p.Glu8408del) c.25075_25077del (p.Glu8359del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.152141253T>A | CA366081446 | SYNE1 | c.1730A>T (p.Glu577Val) c.25196A>T (p.Glu8399Val) c.25052A>T (p.Glu8351Val) c.598A>T c.931A>T c.891-1092A>T c.968A>T (p.Glu323Val) c.23981A>T (p.Glu7994Val) n.1944A>T c.4031A>T (p.Glu1344Val) n.8888A>T c.3134A>T (p.Glu1045Val) n.8780A>T n.1810A>T n.4218A>T n.2033A>T c.1661A>T (p.Glu554Val) c.25301A>T (p.Glu8434Val) c.25289A>T (p.Glu8430Val) c.25280A>T (p.Glu8427Val) c.25250A>T (p.Glu8417Val) c.25286A>T (p.Glu8429Val) c.25232A>T (p.Glu8411Val) c.25229A>T (p.Glu8410Val) c.25217A>T (p.Glu8406Val) c.25160A>T (p.Glu8387Val) c.25148A>T (p.Glu8383Val) c.25145A>T (p.Glu8382Val) c.25142A>T (p.Glu8381Val) c.25298A>T (p.Glu8433Val) c.25136A>T (p.Glu8379Val) c.23576A>T (p.Glu7859Val) c.23069A>T (p.Glu7690Val) c.18536A>T (p.Glu6179Val) c.1802A>T (p.Glu601Val) c.25274A>T (p.Glu8425Val) c.25223A>T (p.Glu8408Val) c.25076A>T (p.Glu8359Val) | |
| 6 | g.152141253T>C | CA366081448 | SYNE1 | c.1730A>G (p.Glu577Gly) c.25196A>G (p.Glu8399Gly) c.25052A>G (p.Glu8351Gly) c.598A>G c.931A>G c.891-1092A>G c.968A>G (p.Glu323Gly) c.23981A>G (p.Glu7994Gly) n.1944A>G c.4031A>G (p.Glu1344Gly) n.8888A>G c.3134A>G (p.Glu1045Gly) n.8780A>G n.1810A>G n.4218A>G n.2033A>G c.1661A>G (p.Glu554Gly) c.25301A>G (p.Glu8434Gly) c.25289A>G (p.Glu8430Gly) c.25280A>G (p.Glu8427Gly) c.25250A>G (p.Glu8417Gly) c.25286A>G (p.Glu8429Gly) c.25232A>G (p.Glu8411Gly) c.25229A>G (p.Glu8410Gly) c.25217A>G (p.Glu8406Gly) c.25160A>G (p.Glu8387Gly) c.25148A>G (p.Glu8383Gly) c.25145A>G (p.Glu8382Gly) c.25142A>G (p.Glu8381Gly) c.25298A>G (p.Glu8433Gly) c.25136A>G (p.Glu8379Gly) c.23576A>G (p.Glu7859Gly) c.23069A>G (p.Glu7690Gly) c.18536A>G (p.Glu6179Gly) c.1802A>G (p.Glu601Gly) c.25274A>G (p.Glu8425Gly) c.25223A>G (p.Glu8408Gly) c.25076A>G (p.Glu8359Gly) | gnomAD v4 |
| 6 | g.152141253T>G | CA4052903 | SYNE1 | c.1730A>C (p.Glu577Ala) c.25196A>C (p.Glu8399Ala) c.25052A>C (p.Glu8351Ala) c.598A>C c.931A>C c.891-1092A>C c.968A>C (p.Glu323Ala) c.23981A>C (p.Glu7994Ala) n.1944A>C c.4031A>C (p.Glu1344Ala) n.8888A>C c.3134A>C (p.Glu1045Ala) n.8780A>C n.1810A>C n.4218A>C n.2033A>C c.1661A>C (p.Glu554Ala) c.25301A>C (p.Glu8434Ala) c.25289A>C (p.Glu8430Ala) c.25280A>C (p.Glu8427Ala) c.25250A>C (p.Glu8417Ala) c.25286A>C (p.Glu8429Ala) c.25232A>C (p.Glu8411Ala) c.25229A>C (p.Glu8410Ala) c.25217A>C (p.Glu8406Ala) c.25160A>C (p.Glu8387Ala) c.25148A>C (p.Glu8383Ala) c.25145A>C (p.Glu8382Ala) c.25142A>C (p.Glu8381Ala) c.25298A>C (p.Glu8433Ala) c.25136A>C (p.Glu8379Ala) c.23576A>C (p.Glu7859Ala) c.23069A>C (p.Glu7690Ala) c.18536A>C (p.Glu6179Ala) c.1802A>C (p.Glu601Ala) c.25274A>C (p.Glu8425Ala) c.25223A>C (p.Glu8408Ala) c.25076A>C (p.Glu8359Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141253T= | CA1673207657 | SYNE1 | c.1730A= (p.Glu577=) c.25196A= (p.Glu8399=) c.25052A= (p.Glu8351=) c.598A= c.931A= c.891-1092A= c.968A= (p.Glu323=) c.23981A= (p.Glu7994=) n.1944A= c.4031A= (p.Glu1344=) n.8888A= c.3134A= (p.Glu1045=) n.8780A= n.1810A= n.4218A= n.2033A= c.1661A= (p.Glu554=) c.25301A= (p.Glu8434=) c.25289A= (p.Glu8430=) c.25280A= (p.Glu8427=) c.25250A= (p.Glu8417=) c.25286A= (p.Glu8429=) c.25232A= (p.Glu8411=) c.25229A= (p.Glu8410=) c.25217A= (p.Glu8406=) c.25160A= (p.Glu8387=) c.25148A= (p.Glu8383=) c.25145A= (p.Glu8382=) c.25142A= (p.Glu8381=) c.25298A= (p.Glu8433=) c.25136A= (p.Glu8379=) c.23576A= (p.Glu7859=) c.23069A= (p.Glu7690=) c.18536A= (p.Glu6179=) c.1802A= (p.Glu601=) c.25274A= (p.Glu8425=) c.25223A= (p.Glu8408=) c.25076A= (p.Glu8359=) | |
| 6 | g.152141254C>A | CA366081451 | SYNE1 | c.1729G>T (p.Glu577Ter) c.25195G>T (p.Glu8399Ter) c.25051G>T (p.Glu8351Ter) c.597G>T c.930G>T c.891-1093G>T c.967G>T (p.Glu323Ter) c.23980G>T (p.Glu7994Ter) n.1943G>T c.4030G>T (p.Glu1344Ter) n.8887G>T c.3133G>T (p.Glu1045Ter) n.8779G>T n.1809G>T n.4217G>T n.2032G>T c.1660G>T (p.Glu554Ter) c.25300G>T (p.Glu8434Ter) c.25288G>T (p.Glu8430Ter) c.25279G>T (p.Glu8427Ter) c.25249G>T (p.Glu8417Ter) c.25285G>T (p.Glu8429Ter) c.25231G>T (p.Glu8411Ter) c.25228G>T (p.Glu8410Ter) c.25216G>T (p.Glu8406Ter) c.25159G>T (p.Glu8387Ter) c.25147G>T (p.Glu8383Ter) c.25144G>T (p.Glu8382Ter) c.25141G>T (p.Glu8381Ter) c.25297G>T (p.Glu8433Ter) c.25135G>T (p.Glu8379Ter) c.23575G>T (p.Glu7859Ter) c.23068G>T (p.Glu7690Ter) c.18535G>T (p.Glu6179Ter) c.1801G>T (p.Glu601Ter) c.25273G>T (p.Glu8425Ter) c.25222G>T (p.Glu8408Ter) c.25075G>T (p.Glu8359Ter) | |
| 6 | g.152141254C>G | CA366081454 | SYNE1 | c.1729G>C (p.Glu577Gln) c.25195G>C (p.Glu8399Gln) c.25051G>C (p.Glu8351Gln) c.597G>C c.930G>C c.891-1093G>C c.967G>C (p.Glu323Gln) c.23980G>C (p.Glu7994Gln) n.1943G>C c.4030G>C (p.Glu1344Gln) n.8887G>C c.3133G>C (p.Glu1045Gln) n.8779G>C n.1809G>C n.4217G>C n.2032G>C c.1660G>C (p.Glu554Gln) c.25300G>C (p.Glu8434Gln) c.25288G>C (p.Glu8430Gln) c.25279G>C (p.Glu8427Gln) c.25249G>C (p.Glu8417Gln) c.25285G>C (p.Glu8429Gln) c.25231G>C (p.Glu8411Gln) c.25228G>C (p.Glu8410Gln) c.25216G>C (p.Glu8406Gln) c.25159G>C (p.Glu8387Gln) c.25147G>C (p.Glu8383Gln) c.25144G>C (p.Glu8382Gln) c.25141G>C (p.Glu8381Gln) c.25297G>C (p.Glu8433Gln) c.25135G>C (p.Glu8379Gln) c.23575G>C (p.Glu7859Gln) c.23068G>C (p.Glu7690Gln) c.18535G>C (p.Glu6179Gln) c.1801G>C (p.Glu601Gln) c.25273G>C (p.Glu8425Gln) c.25222G>C (p.Glu8408Gln) c.25075G>C (p.Glu8359Gln) | |
| 6 | g.152141254C>T | CA366081456 | SYNE1 | c.1729G>A (p.Glu577Lys) c.25195G>A (p.Glu8399Lys) c.25051G>A (p.Glu8351Lys) c.597G>A c.930G>A c.891-1093G>A c.967G>A (p.Glu323Lys) c.23980G>A (p.Glu7994Lys) n.1943G>A c.4030G>A (p.Glu1344Lys) n.8887G>A c.3133G>A (p.Glu1045Lys) n.8779G>A n.1809G>A n.4217G>A n.2032G>A c.1660G>A (p.Glu554Lys) c.25300G>A (p.Glu8434Lys) c.25288G>A (p.Glu8430Lys) c.25279G>A (p.Glu8427Lys) c.25249G>A (p.Glu8417Lys) c.25285G>A (p.Glu8429Lys) c.25231G>A (p.Glu8411Lys) c.25228G>A (p.Glu8410Lys) c.25216G>A (p.Glu8406Lys) c.25159G>A (p.Glu8387Lys) c.25147G>A (p.Glu8383Lys) c.25144G>A (p.Glu8382Lys) c.25141G>A (p.Glu8381Lys) c.25297G>A (p.Glu8433Lys) c.25135G>A (p.Glu8379Lys) c.23575G>A (p.Glu7859Lys) c.23068G>A (p.Glu7690Lys) c.18535G>A (p.Glu6179Lys) c.1801G>A (p.Glu601Lys) c.25273G>A (p.Glu8425Lys) c.25222G>A (p.Glu8408Lys) c.25075G>A (p.Glu8359Lys) | |
| 6 | g.152141255C>A | CA366081461 | SYNE1 | c.1728G>T (p.Glu576Asp) c.25194G>T (p.Glu8398Asp) c.25050G>T (p.Glu8350Asp) c.596G>T c.929G>T c.891-1094G>T c.966G>T (p.Glu322Asp) c.23979G>T (p.Glu7993Asp) n.1942G>T c.4029G>T (p.Glu1343Asp) n.8886G>T c.3132G>T (p.Glu1044Asp) n.8778G>T n.1808G>T n.4216G>T n.2031G>T c.1659G>T (p.Glu553Asp) c.25299G>T (p.Glu8433Asp) c.25287G>T (p.Glu8429Asp) c.25278G>T (p.Glu8426Asp) c.25248G>T (p.Glu8416Asp) c.25284G>T (p.Glu8428Asp) c.25230G>T (p.Glu8410Asp) c.25227G>T (p.Glu8409Asp) c.25215G>T (p.Glu8405Asp) c.25158G>T (p.Glu8386Asp) c.25146G>T (p.Glu8382Asp) c.25143G>T (p.Glu8381Asp) c.25140G>T (p.Glu8380Asp) c.25296G>T (p.Glu8432Asp) c.25134G>T (p.Glu8378Asp) c.23574G>T (p.Glu7858Asp) c.23067G>T (p.Glu7689Asp) c.18534G>T (p.Glu6178Asp) c.1800G>T (p.Glu600Asp) c.25272G>T (p.Glu8424Asp) c.25221G>T (p.Glu8407Asp) c.25074G>T (p.Glu8358Asp) | |
| 6 | g.152141255C= | CA1673207663 | SYNE1 | c.1728G= (p.Glu576=) c.25194G= (p.Glu8398=) c.25050G= (p.Glu8350=) c.596G= c.929G= c.891-1094G= c.966G= (p.Glu322=) c.23979G= (p.Glu7993=) n.1942G= c.4029G= (p.Glu1343=) n.8886G= c.3132G= (p.Glu1044=) n.8778G= n.1808G= n.4216G= n.2031G= c.1659G= (p.Glu553=) c.25299G= (p.Glu8433=) c.25287G= (p.Glu8429=) c.25278G= (p.Glu8426=) c.25248G= (p.Glu8416=) c.25284G= (p.Glu8428=) c.25230G= (p.Glu8410=) c.25227G= (p.Glu8409=) c.25215G= (p.Glu8405=) c.25158G= (p.Glu8386=) c.25146G= (p.Glu8382=) c.25143G= (p.Glu8381=) c.25140G= (p.Glu8380=) c.25296G= (p.Glu8432=) c.25134G= (p.Glu8378=) c.23574G= (p.Glu7858=) c.23067G= (p.Glu7689=) c.18534G= (p.Glu6178=) c.1800G= (p.Glu600=) c.25272G= (p.Glu8424=) c.25221G= (p.Glu8407=) c.25074G= (p.Glu8358=) | |
| 6 | g.152141255C>G | CA366081458 | SYNE1 | c.1728G>C (p.Glu576Asp) c.25194G>C (p.Glu8398Asp) c.25050G>C (p.Glu8350Asp) c.596G>C c.929G>C c.891-1094G>C c.966G>C (p.Glu322Asp) c.23979G>C (p.Glu7993Asp) n.1942G>C c.4029G>C (p.Glu1343Asp) n.8886G>C c.3132G>C (p.Glu1044Asp) n.8778G>C n.1808G>C n.4216G>C n.2031G>C c.1659G>C (p.Glu553Asp) c.25299G>C (p.Glu8433Asp) c.25287G>C (p.Glu8429Asp) c.25278G>C (p.Glu8426Asp) c.25248G>C (p.Glu8416Asp) c.25284G>C (p.Glu8428Asp) c.25230G>C (p.Glu8410Asp) c.25227G>C (p.Glu8409Asp) c.25215G>C (p.Glu8405Asp) c.25158G>C (p.Glu8386Asp) c.25146G>C (p.Glu8382Asp) c.25143G>C (p.Glu8381Asp) c.25140G>C (p.Glu8380Asp) c.25296G>C (p.Glu8432Asp) c.25134G>C (p.Glu8378Asp) c.23574G>C (p.Glu7858Asp) c.23067G>C (p.Glu7689Asp) c.18534G>C (p.Glu6178Asp) c.1800G>C (p.Glu600Asp) c.25272G>C (p.Glu8424Asp) c.25221G>C (p.Glu8407Asp) c.25074G>C (p.Glu8358Asp) | |
| 6 | g.152141255C>T | CA4052904 | SYNE1 | c.1728G>A (p.Glu576=) c.25194G>A (p.Glu8398=) c.25050G>A (p.Glu8350=) c.596G>A c.929G>A c.891-1094G>A c.966G>A (p.Glu322=) c.23979G>A (p.Glu7993=) n.1942G>A c.4029G>A (p.Glu1343=) n.8886G>A c.3132G>A (p.Glu1044=) n.8778G>A n.1808G>A n.4216G>A n.2031G>A c.1659G>A (p.Glu553=) c.25299G>A (p.Glu8433=) c.25287G>A (p.Glu8429=) c.25278G>A (p.Glu8426=) c.25248G>A (p.Glu8416=) c.25284G>A (p.Glu8428=) c.25230G>A (p.Glu8410=) c.25227G>A (p.Glu8409=) c.25215G>A (p.Glu8405=) c.25158G>A (p.Glu8386=) c.25146G>A (p.Glu8382=) c.25143G>A (p.Glu8381=) c.25140G>A (p.Glu8380=) c.25296G>A (p.Glu8432=) c.25134G>A (p.Glu8378=) c.23574G>A (p.Glu7858=) c.23067G>A (p.Glu7689=) c.18534G>A (p.Glu6178=) c.1800G>A (p.Glu600=) c.25272G>A (p.Glu8424=) c.25221G>A (p.Glu8407=) c.25074G>A (p.Glu8358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141256T>A | CA366081462 | SYNE1 | c.1727A>T (p.Glu576Val) c.25193A>T (p.Glu8398Val) c.25049A>T (p.Glu8350Val) c.595A>T c.928A>T c.891-1095A>T c.965A>T (p.Glu322Val) c.23978A>T (p.Glu7993Val) n.1941A>T c.4028A>T (p.Glu1343Val) n.8885A>T c.3131A>T (p.Glu1044Val) n.8777A>T n.1807A>T n.4215A>T n.2030A>T c.1658A>T (p.Glu553Val) c.25298A>T (p.Glu8433Val) c.25286A>T (p.Glu8429Val) c.25277A>T (p.Glu8426Val) c.25247A>T (p.Glu8416Val) c.25283A>T (p.Glu8428Val) c.25229A>T (p.Glu8410Val) c.25226A>T (p.Glu8409Val) c.25214A>T (p.Glu8405Val) c.25157A>T (p.Glu8386Val) c.25145A>T (p.Glu8382Val) c.25142A>T (p.Glu8381Val) c.25139A>T (p.Glu8380Val) c.25295A>T (p.Glu8432Val) c.25133A>T (p.Glu8378Val) c.23573A>T (p.Glu7858Val) c.23066A>T (p.Glu7689Val) c.18533A>T (p.Glu6178Val) c.1799A>T (p.Glu600Val) c.25271A>T (p.Glu8424Val) c.25220A>T (p.Glu8407Val) c.25073A>T (p.Glu8358Val) | |
| 6 | g.152141256T>C | CA366081467 | SYNE1 | c.1727A>G (p.Glu576Gly) c.25193A>G (p.Glu8398Gly) c.25049A>G (p.Glu8350Gly) c.595A>G c.928A>G c.891-1095A>G c.965A>G (p.Glu322Gly) c.23978A>G (p.Glu7993Gly) n.1941A>G c.4028A>G (p.Glu1343Gly) n.8885A>G c.3131A>G (p.Glu1044Gly) n.8777A>G n.1807A>G n.4215A>G n.2030A>G c.1658A>G (p.Glu553Gly) c.25298A>G (p.Glu8433Gly) c.25286A>G (p.Glu8429Gly) c.25277A>G (p.Glu8426Gly) c.25247A>G (p.Glu8416Gly) c.25283A>G (p.Glu8428Gly) c.25229A>G (p.Glu8410Gly) c.25226A>G (p.Glu8409Gly) c.25214A>G (p.Glu8405Gly) c.25157A>G (p.Glu8386Gly) c.25145A>G (p.Glu8382Gly) c.25142A>G (p.Glu8381Gly) c.25139A>G (p.Glu8380Gly) c.25295A>G (p.Glu8432Gly) c.25133A>G (p.Glu8378Gly) c.23573A>G (p.Glu7858Gly) c.23066A>G (p.Glu7689Gly) c.18533A>G (p.Glu6178Gly) c.1799A>G (p.Glu600Gly) c.25271A>G (p.Glu8424Gly) c.25220A>G (p.Glu8407Gly) c.25073A>G (p.Glu8358Gly) | ClinVar dbSNP |
| 6 | g.152141256T>G | CA366081464 | SYNE1 | c.1727A>C (p.Glu576Ala) c.25193A>C (p.Glu8398Ala) c.25049A>C (p.Glu8350Ala) c.595A>C c.928A>C c.891-1095A>C c.965A>C (p.Glu322Ala) c.23978A>C (p.Glu7993Ala) n.1941A>C c.4028A>C (p.Glu1343Ala) n.8885A>C c.3131A>C (p.Glu1044Ala) n.8777A>C n.1807A>C n.4215A>C n.2030A>C c.1658A>C (p.Glu553Ala) c.25298A>C (p.Glu8433Ala) c.25286A>C (p.Glu8429Ala) c.25277A>C (p.Glu8426Ala) c.25247A>C (p.Glu8416Ala) c.25283A>C (p.Glu8428Ala) c.25229A>C (p.Glu8410Ala) c.25226A>C (p.Glu8409Ala) c.25214A>C (p.Glu8405Ala) c.25157A>C (p.Glu8386Ala) c.25145A>C (p.Glu8382Ala) c.25142A>C (p.Glu8381Ala) c.25139A>C (p.Glu8380Ala) c.25295A>C (p.Glu8432Ala) c.25133A>C (p.Glu8378Ala) c.23573A>C (p.Glu7858Ala) c.23066A>C (p.Glu7689Ala) c.18533A>C (p.Glu6178Ala) c.1799A>C (p.Glu600Ala) c.25271A>C (p.Glu8424Ala) c.25220A>C (p.Glu8407Ala) c.25073A>C (p.Glu8358Ala) | |
| 6 | g.152141257C>A | CA366081469 | SYNE1 | c.1726G>T (p.Glu576Ter) c.25192G>T (p.Glu8398Ter) c.25048G>T (p.Glu8350Ter) c.594G>T c.927G>T c.891-1096G>T c.964G>T (p.Glu322Ter) c.23977G>T (p.Glu7993Ter) n.1940G>T c.4027G>T (p.Glu1343Ter) n.8884G>T c.3130G>T (p.Glu1044Ter) n.8776G>T n.1806G>T n.4214G>T n.2029G>T c.1657G>T (p.Glu553Ter) c.25297G>T (p.Glu8433Ter) c.25285G>T (p.Glu8429Ter) c.25276G>T (p.Glu8426Ter) c.25246G>T (p.Glu8416Ter) c.25282G>T (p.Glu8428Ter) c.25228G>T (p.Glu8410Ter) c.25225G>T (p.Glu8409Ter) c.25213G>T (p.Glu8405Ter) c.25156G>T (p.Glu8386Ter) c.25144G>T (p.Glu8382Ter) c.25141G>T (p.Glu8381Ter) c.25138G>T (p.Glu8380Ter) c.25294G>T (p.Glu8432Ter) c.25132G>T (p.Glu8378Ter) c.23572G>T (p.Glu7858Ter) c.23065G>T (p.Glu7689Ter) c.18532G>T (p.Glu6178Ter) c.1798G>T (p.Glu600Ter) c.25270G>T (p.Glu8424Ter) c.25219G>T (p.Glu8407Ter) c.25072G>T (p.Glu8358Ter) | |
| 6 | g.152141257C>G | CA366081471 | SYNE1 | c.1726G>C (p.Glu576Gln) c.25192G>C (p.Glu8398Gln) c.25048G>C (p.Glu8350Gln) c.594G>C c.927G>C c.891-1096G>C c.964G>C (p.Glu322Gln) c.23977G>C (p.Glu7993Gln) n.1940G>C c.4027G>C (p.Glu1343Gln) n.8884G>C c.3130G>C (p.Glu1044Gln) n.8776G>C n.1806G>C n.4214G>C n.2029G>C c.1657G>C (p.Glu553Gln) c.25297G>C (p.Glu8433Gln) c.25285G>C (p.Glu8429Gln) c.25276G>C (p.Glu8426Gln) c.25246G>C (p.Glu8416Gln) c.25282G>C (p.Glu8428Gln) c.25228G>C (p.Glu8410Gln) c.25225G>C (p.Glu8409Gln) c.25213G>C (p.Glu8405Gln) c.25156G>C (p.Glu8386Gln) c.25144G>C (p.Glu8382Gln) c.25141G>C (p.Glu8381Gln) c.25138G>C (p.Glu8380Gln) c.25294G>C (p.Glu8432Gln) c.25132G>C (p.Glu8378Gln) c.23572G>C (p.Glu7858Gln) c.23065G>C (p.Glu7689Gln) c.18532G>C (p.Glu6178Gln) c.1798G>C (p.Glu600Gln) c.25270G>C (p.Glu8424Gln) c.25219G>C (p.Glu8407Gln) c.25072G>C (p.Glu8358Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141257C>T | CA366081473 | SYNE1 | c.1726G>A (p.Glu576Lys) c.25192G>A (p.Glu8398Lys) c.25048G>A (p.Glu8350Lys) c.594G>A c.927G>A c.891-1096G>A c.964G>A (p.Glu322Lys) c.23977G>A (p.Glu7993Lys) n.1940G>A c.4027G>A (p.Glu1343Lys) n.8884G>A c.3130G>A (p.Glu1044Lys) n.8776G>A n.1806G>A n.4214G>A n.2029G>A c.1657G>A (p.Glu553Lys) c.25297G>A (p.Glu8433Lys) c.25285G>A (p.Glu8429Lys) c.25276G>A (p.Glu8426Lys) c.25246G>A (p.Glu8416Lys) c.25282G>A (p.Glu8428Lys) c.25228G>A (p.Glu8410Lys) c.25225G>A (p.Glu8409Lys) c.25213G>A (p.Glu8405Lys) c.25156G>A (p.Glu8386Lys) c.25144G>A (p.Glu8382Lys) c.25141G>A (p.Glu8381Lys) c.25138G>A (p.Glu8380Lys) c.25294G>A (p.Glu8432Lys) c.25132G>A (p.Glu8378Lys) c.23572G>A (p.Glu7858Lys) c.23065G>A (p.Glu7689Lys) c.18532G>A (p.Glu6178Lys) c.1798G>A (p.Glu600Lys) c.25270G>A (p.Glu8424Lys) c.25219G>A (p.Glu8407Lys) c.25072G>A (p.Glu8358Lys) | |
| 6 | g.152141258T>A | CA4052905 | SYNE1 | c.1725A>T (p.Glu575Asp) c.25191A>T (p.Glu8397Asp) c.25047A>T (p.Glu8349Asp) c.593A>T c.926A>T c.891-1097A>T c.963A>T (p.Glu321Asp) c.23976A>T (p.Glu7992Asp) n.1939A>T c.4026A>T (p.Glu1342Asp) n.8883A>T c.3129A>T (p.Glu1043Asp) n.8775A>T n.1805A>T n.4213A>T n.2028A>T c.1656A>T (p.Glu552Asp) c.25296A>T (p.Glu8432Asp) c.25284A>T (p.Glu8428Asp) c.25275A>T (p.Glu8425Asp) c.25245A>T (p.Glu8415Asp) c.25281A>T (p.Glu8427Asp) c.25227A>T (p.Glu8409Asp) c.25224A>T (p.Glu8408Asp) c.25212A>T (p.Glu8404Asp) c.25155A>T (p.Glu8385Asp) c.25143A>T (p.Glu8381Asp) c.25140A>T (p.Glu8380Asp) c.25137A>T (p.Glu8379Asp) c.25293A>T (p.Glu8431Asp) c.25131A>T (p.Glu8377Asp) c.23571A>T (p.Glu7857Asp) c.23064A>T (p.Glu7688Asp) c.18531A>T (p.Glu6177Asp) c.1797A>T (p.Glu599Asp) c.25269A>T (p.Glu8423Asp) c.25218A>T (p.Glu8406Asp) c.25071A>T (p.Glu8357Asp) | dbSNP ExAC |
| 6 | g.152141258T>C | CA452747102 | SYNE1 | c.1725A>G (p.Glu575=) c.25191A>G (p.Glu8397=) c.25047A>G (p.Glu8349=) c.593A>G c.926A>G c.891-1097A>G c.963A>G (p.Glu321=) c.23976A>G (p.Glu7992=) n.1939A>G c.4026A>G (p.Glu1342=) n.8883A>G c.3129A>G (p.Glu1043=) n.8775A>G n.1805A>G n.4213A>G n.2028A>G c.1656A>G (p.Glu552=) c.25296A>G (p.Glu8432=) c.25284A>G (p.Glu8428=) c.25275A>G (p.Glu8425=) c.25245A>G (p.Glu8415=) c.25281A>G (p.Glu8427=) c.25227A>G (p.Glu8409=) c.25224A>G (p.Glu8408=) c.25212A>G (p.Glu8404=) c.25155A>G (p.Glu8385=) c.25143A>G (p.Glu8381=) c.25140A>G (p.Glu8380=) c.25137A>G (p.Glu8379=) c.25293A>G (p.Glu8431=) c.25131A>G (p.Glu8377=) c.23571A>G (p.Glu7857=) c.23064A>G (p.Glu7688=) c.18531A>G (p.Glu6177=) c.1797A>G (p.Glu599=) c.25269A>G (p.Glu8423=) c.25218A>G (p.Glu8406=) c.25071A>G (p.Glu8357=) | |
| 6 | g.152141258T>G | CA366081476 | SYNE1 | c.1725A>C (p.Glu575Asp) c.25191A>C (p.Glu8397Asp) c.25047A>C (p.Glu8349Asp) c.593A>C c.926A>C c.891-1097A>C c.963A>C (p.Glu321Asp) c.23976A>C (p.Glu7992Asp) n.1939A>C c.4026A>C (p.Glu1342Asp) n.8883A>C c.3129A>C (p.Glu1043Asp) n.8775A>C n.1805A>C n.4213A>C n.2028A>C c.1656A>C (p.Glu552Asp) c.25296A>C (p.Glu8432Asp) c.25284A>C (p.Glu8428Asp) c.25275A>C (p.Glu8425Asp) c.25245A>C (p.Glu8415Asp) c.25281A>C (p.Glu8427Asp) c.25227A>C (p.Glu8409Asp) c.25224A>C (p.Glu8408Asp) c.25212A>C (p.Glu8404Asp) c.25155A>C (p.Glu8385Asp) c.25143A>C (p.Glu8381Asp) c.25140A>C (p.Glu8380Asp) c.25137A>C (p.Glu8379Asp) c.25293A>C (p.Glu8431Asp) c.25131A>C (p.Glu8377Asp) c.23571A>C (p.Glu7857Asp) c.23064A>C (p.Glu7688Asp) c.18531A>C (p.Glu6177Asp) c.1797A>C (p.Glu599Asp) c.25269A>C (p.Glu8423Asp) c.25218A>C (p.Glu8406Asp) c.25071A>C (p.Glu8357Asp) | |
| 6 | g.152141258T= | CA1673207667 | SYNE1 | c.1725A= (p.Glu575=) c.25191A= (p.Glu8397=) c.25047A= (p.Glu8349=) c.593A= c.926A= c.891-1097A= c.963A= (p.Glu321=) c.23976A= (p.Glu7992=) n.1939A= c.4026A= (p.Glu1342=) n.8883A= c.3129A= (p.Glu1043=) n.8775A= n.1805A= n.4213A= n.2028A= c.1656A= (p.Glu552=) c.25296A= (p.Glu8432=) c.25284A= (p.Glu8428=) c.25275A= (p.Glu8425=) c.25245A= (p.Glu8415=) c.25281A= (p.Glu8427=) c.25227A= (p.Glu8409=) c.25224A= (p.Glu8408=) c.25212A= (p.Glu8404=) c.25155A= (p.Glu8385=) c.25143A= (p.Glu8381=) c.25140A= (p.Glu8380=) c.25137A= (p.Glu8379=) c.25293A= (p.Glu8431=) c.25131A= (p.Glu8377=) c.23571A= (p.Glu7857=) c.23064A= (p.Glu7688=) c.18531A= (p.Glu6177=) c.1797A= (p.Glu599=) c.25269A= (p.Glu8423=) c.25218A= (p.Glu8406=) c.25071A= (p.Glu8357=) | |
| 6 | g.152141259T>A | CA366081478 | SYNE1 | c.1724A>T (p.Glu575Val) c.25190A>T (p.Glu8397Val) c.25046A>T (p.Glu8349Val) c.592A>T c.925A>T c.891-1098A>T c.962A>T (p.Glu321Val) c.23975A>T (p.Glu7992Val) n.1938A>T c.4025A>T (p.Glu1342Val) n.8882A>T c.3128A>T (p.Glu1043Val) n.8774A>T n.1804A>T n.4212A>T n.2027A>T c.1655A>T (p.Glu552Val) c.25295A>T (p.Glu8432Val) c.25283A>T (p.Glu8428Val) c.25274A>T (p.Glu8425Val) c.25244A>T (p.Glu8415Val) c.25280A>T (p.Glu8427Val) c.25226A>T (p.Glu8409Val) c.25223A>T (p.Glu8408Val) c.25211A>T (p.Glu8404Val) c.25154A>T (p.Glu8385Val) c.25142A>T (p.Glu8381Val) c.25139A>T (p.Glu8380Val) c.25136A>T (p.Glu8379Val) c.25292A>T (p.Glu8431Val) c.25130A>T (p.Glu8377Val) c.23570A>T (p.Glu7857Val) c.23063A>T (p.Glu7688Val) c.18530A>T (p.Glu6177Val) c.1796A>T (p.Glu599Val) c.25268A>T (p.Glu8423Val) c.25217A>T (p.Glu8406Val) c.25070A>T (p.Glu8357Val) | |
| 6 | g.152141259T>C | CA366081481 | SYNE1 | c.1724A>G (p.Glu575Gly) c.25190A>G (p.Glu8397Gly) c.25046A>G (p.Glu8349Gly) c.592A>G c.925A>G c.891-1098A>G c.962A>G (p.Glu321Gly) c.23975A>G (p.Glu7992Gly) n.1938A>G c.4025A>G (p.Glu1342Gly) n.8882A>G c.3128A>G (p.Glu1043Gly) n.8774A>G n.1804A>G n.4212A>G n.2027A>G c.1655A>G (p.Glu552Gly) c.25295A>G (p.Glu8432Gly) c.25283A>G (p.Glu8428Gly) c.25274A>G (p.Glu8425Gly) c.25244A>G (p.Glu8415Gly) c.25280A>G (p.Glu8427Gly) c.25226A>G (p.Glu8409Gly) c.25223A>G (p.Glu8408Gly) c.25211A>G (p.Glu8404Gly) c.25154A>G (p.Glu8385Gly) c.25142A>G (p.Glu8381Gly) c.25139A>G (p.Glu8380Gly) c.25136A>G (p.Glu8379Gly) c.25292A>G (p.Glu8431Gly) c.25130A>G (p.Glu8377Gly) c.23570A>G (p.Glu7857Gly) c.23063A>G (p.Glu7688Gly) c.18530A>G (p.Glu6177Gly) c.1796A>G (p.Glu599Gly) c.25268A>G (p.Glu8423Gly) c.25217A>G (p.Glu8406Gly) c.25070A>G (p.Glu8357Gly) | |
| 6 | g.152141259T>G | CA366081484 | SYNE1 | c.1724A>C (p.Glu575Ala) c.25190A>C (p.Glu8397Ala) c.25046A>C (p.Glu8349Ala) c.592A>C c.925A>C c.891-1098A>C c.962A>C (p.Glu321Ala) c.23975A>C (p.Glu7992Ala) n.1938A>C c.4025A>C (p.Glu1342Ala) n.8882A>C c.3128A>C (p.Glu1043Ala) n.8774A>C n.1804A>C n.4212A>C n.2027A>C c.1655A>C (p.Glu552Ala) c.25295A>C (p.Glu8432Ala) c.25283A>C (p.Glu8428Ala) c.25274A>C (p.Glu8425Ala) c.25244A>C (p.Glu8415Ala) c.25280A>C (p.Glu8427Ala) c.25226A>C (p.Glu8409Ala) c.25223A>C (p.Glu8408Ala) c.25211A>C (p.Glu8404Ala) c.25154A>C (p.Glu8385Ala) c.25142A>C (p.Glu8381Ala) c.25139A>C (p.Glu8380Ala) c.25136A>C (p.Glu8379Ala) c.25292A>C (p.Glu8431Ala) c.25130A>C (p.Glu8377Ala) c.23570A>C (p.Glu7857Ala) c.23063A>C (p.Glu7688Ala) c.18530A>C (p.Glu6177Ala) c.1796A>C (p.Glu599Ala) c.25268A>C (p.Glu8423Ala) c.25217A>C (p.Glu8406Ala) c.25070A>C (p.Glu8357Ala) | |
| 6 | g.152141260C>A | CA366082118 | SYNE1 | c.1723G>T (p.Glu575Ter) c.25189G>T (p.Glu8397Ter) c.25045G>T (p.Glu8349Ter) c.591G>T c.924G>T c.891-1099G>T c.961G>T (p.Glu321Ter) c.23974G>T (p.Glu7992Ter) n.1937G>T c.4024G>T (p.Glu1342Ter) n.8881G>T c.3127G>T (p.Glu1043Ter) n.8773G>T n.1803G>T n.4211G>T n.2026G>T c.1654G>T (p.Glu552Ter) c.25294G>T (p.Glu8432Ter) c.25282G>T (p.Glu8428Ter) c.25273G>T (p.Glu8425Ter) c.25243G>T (p.Glu8415Ter) c.25279G>T (p.Glu8427Ter) c.25225G>T (p.Glu8409Ter) c.25222G>T (p.Glu8408Ter) c.25210G>T (p.Glu8404Ter) c.25153G>T (p.Glu8385Ter) c.25141G>T (p.Glu8381Ter) c.25138G>T (p.Glu8380Ter) c.25135G>T (p.Glu8379Ter) c.25291G>T (p.Glu8431Ter) c.25129G>T (p.Glu8377Ter) c.23569G>T (p.Glu7857Ter) c.23062G>T (p.Glu7688Ter) c.18529G>T (p.Glu6177Ter) c.1795G>T (p.Glu599Ter) c.25267G>T (p.Glu8423Ter) c.25216G>T (p.Glu8406Ter) c.25069G>T (p.Glu8357Ter) | |
| 6 | g.152141260C>G | CA366082120 | SYNE1 | c.1723G>C (p.Glu575Gln) c.25189G>C (p.Glu8397Gln) c.25045G>C (p.Glu8349Gln) c.591G>C c.924G>C c.891-1099G>C c.961G>C (p.Glu321Gln) c.23974G>C (p.Glu7992Gln) n.1937G>C c.4024G>C (p.Glu1342Gln) n.8881G>C c.3127G>C (p.Glu1043Gln) n.8773G>C n.1803G>C n.4211G>C n.2026G>C c.1654G>C (p.Glu552Gln) c.25294G>C (p.Glu8432Gln) c.25282G>C (p.Glu8428Gln) c.25273G>C (p.Glu8425Gln) c.25243G>C (p.Glu8415Gln) c.25279G>C (p.Glu8427Gln) c.25225G>C (p.Glu8409Gln) c.25222G>C (p.Glu8408Gln) c.25210G>C (p.Glu8404Gln) c.25153G>C (p.Glu8385Gln) c.25141G>C (p.Glu8381Gln) c.25138G>C (p.Glu8380Gln) c.25135G>C (p.Glu8379Gln) c.25291G>C (p.Glu8431Gln) c.25129G>C (p.Glu8377Gln) c.23569G>C (p.Glu7857Gln) c.23062G>C (p.Glu7688Gln) c.18529G>C (p.Glu6177Gln) c.1795G>C (p.Glu599Gln) c.25267G>C (p.Glu8423Gln) c.25216G>C (p.Glu8406Gln) c.25069G>C (p.Glu8357Gln) | |
| 6 | g.152141260C>T | CA366082123 | SYNE1 | c.1723G>A (p.Glu575Lys) c.25189G>A (p.Glu8397Lys) c.25045G>A (p.Glu8349Lys) c.591G>A c.924G>A c.891-1099G>A c.961G>A (p.Glu321Lys) c.23974G>A (p.Glu7992Lys) n.1937G>A c.4024G>A (p.Glu1342Lys) n.8881G>A c.3127G>A (p.Glu1043Lys) n.8773G>A n.1803G>A n.4211G>A n.2026G>A c.1654G>A (p.Glu552Lys) c.25294G>A (p.Glu8432Lys) c.25282G>A (p.Glu8428Lys) c.25273G>A (p.Glu8425Lys) c.25243G>A (p.Glu8415Lys) c.25279G>A (p.Glu8427Lys) c.25225G>A (p.Glu8409Lys) c.25222G>A (p.Glu8408Lys) c.25210G>A (p.Glu8404Lys) c.25153G>A (p.Glu8385Lys) c.25141G>A (p.Glu8381Lys) c.25138G>A (p.Glu8380Lys) c.25135G>A (p.Glu8379Lys) c.25291G>A (p.Glu8431Lys) c.25129G>A (p.Glu8377Lys) c.23569G>A (p.Glu7857Lys) c.23062G>A (p.Glu7688Lys) c.18529G>A (p.Glu6177Lys) c.1795G>A (p.Glu599Lys) c.25267G>A (p.Glu8423Lys) c.25216G>A (p.Glu8406Lys) c.25069G>A (p.Glu8357Lys) | |
| 6 | g.152141261C>A | CA366082128 | SYNE1 | c.1722G>T (p.Glu574Asp) c.25188G>T (p.Glu8396Asp) c.25044G>T (p.Glu8348Asp) c.590G>T c.923G>T c.891-1100G>T c.960G>T (p.Glu320Asp) c.23973G>T (p.Glu7991Asp) n.1936G>T c.4023G>T (p.Glu1341Asp) n.8880G>T c.3126G>T (p.Glu1042Asp) n.8772G>T n.1802G>T n.4210G>T n.2025G>T c.1653G>T (p.Glu551Asp) c.25293G>T (p.Glu8431Asp) c.25281G>T (p.Glu8427Asp) c.25272G>T (p.Glu8424Asp) c.25242G>T (p.Glu8414Asp) c.25278G>T (p.Glu8426Asp) c.25224G>T (p.Glu8408Asp) c.25221G>T (p.Glu8407Asp) c.25209G>T (p.Glu8403Asp) c.25152G>T (p.Glu8384Asp) c.25140G>T (p.Glu8380Asp) c.25137G>T (p.Glu8379Asp) c.25134G>T (p.Glu8378Asp) c.25290G>T (p.Glu8430Asp) c.25128G>T (p.Glu8376Asp) c.23568G>T (p.Glu7856Asp) c.23061G>T (p.Glu7687Asp) c.18528G>T (p.Glu6176Asp) c.1794G>T (p.Glu598Asp) c.25266G>T (p.Glu8422Asp) c.25215G>T (p.Glu8405Asp) c.25068G>T (p.Glu8356Asp) | |
| 6 | g.152141261C= | CA1673207671 | SYNE1 | c.1722G= (p.Glu574=) c.25188G= (p.Glu8396=) c.25044G= (p.Glu8348=) c.590G= c.923G= c.891-1100G= c.960G= (p.Glu320=) c.23973G= (p.Glu7991=) n.1936G= c.4023G= (p.Glu1341=) n.8880G= c.3126G= (p.Glu1042=) n.8772G= n.1802G= n.4210G= n.2025G= c.1653G= (p.Glu551=) c.25293G= (p.Glu8431=) c.25281G= (p.Glu8427=) c.25272G= (p.Glu8424=) c.25242G= (p.Glu8414=) c.25278G= (p.Glu8426=) c.25224G= (p.Glu8408=) c.25221G= (p.Glu8407=) c.25209G= (p.Glu8403=) c.25152G= (p.Glu8384=) c.25140G= (p.Glu8380=) c.25137G= (p.Glu8379=) c.25134G= (p.Glu8378=) c.25290G= (p.Glu8430=) c.25128G= (p.Glu8376=) c.23568G= (p.Glu7856=) c.23061G= (p.Glu7687=) c.18528G= (p.Glu6176=) c.1794G= (p.Glu598=) c.25266G= (p.Glu8422=) c.25215G= (p.Glu8405=) c.25068G= (p.Glu8356=) | |
| 6 | g.152141261C>G | CA366082125 | SYNE1 | c.1722G>C (p.Glu574Asp) c.25188G>C (p.Glu8396Asp) c.25044G>C (p.Glu8348Asp) c.590G>C c.923G>C c.891-1100G>C c.960G>C (p.Glu320Asp) c.23973G>C (p.Glu7991Asp) n.1936G>C c.4023G>C (p.Glu1341Asp) n.8880G>C c.3126G>C (p.Glu1042Asp) n.8772G>C n.1802G>C n.4210G>C n.2025G>C c.1653G>C (p.Glu551Asp) c.25293G>C (p.Glu8431Asp) c.25281G>C (p.Glu8427Asp) c.25272G>C (p.Glu8424Asp) c.25242G>C (p.Glu8414Asp) c.25278G>C (p.Glu8426Asp) c.25224G>C (p.Glu8408Asp) c.25221G>C (p.Glu8407Asp) c.25209G>C (p.Glu8403Asp) c.25152G>C (p.Glu8384Asp) c.25140G>C (p.Glu8380Asp) c.25137G>C (p.Glu8379Asp) c.25134G>C (p.Glu8378Asp) c.25290G>C (p.Glu8430Asp) c.25128G>C (p.Glu8376Asp) c.23568G>C (p.Glu7856Asp) c.23061G>C (p.Glu7687Asp) c.18528G>C (p.Glu6176Asp) c.1794G>C (p.Glu598Asp) c.25266G>C (p.Glu8422Asp) c.25215G>C (p.Glu8405Asp) c.25068G>C (p.Glu8356Asp) | gnomAD v4 |
| 6 | g.152141261C>T | CA4052906 | SYNE1 | c.1722G>A (p.Glu574=) c.25188G>A (p.Glu8396=) c.25044G>A (p.Glu8348=) c.590G>A c.923G>A c.891-1100G>A c.960G>A (p.Glu320=) c.23973G>A (p.Glu7991=) n.1936G>A c.4023G>A (p.Glu1341=) n.8880G>A c.3126G>A (p.Glu1042=) n.8772G>A n.1802G>A n.4210G>A n.2025G>A c.1653G>A (p.Glu551=) c.25293G>A (p.Glu8431=) c.25281G>A (p.Glu8427=) c.25272G>A (p.Glu8424=) c.25242G>A (p.Glu8414=) c.25278G>A (p.Glu8426=) c.25224G>A (p.Glu8408=) c.25221G>A (p.Glu8407=) c.25209G>A (p.Glu8403=) c.25152G>A (p.Glu8384=) c.25140G>A (p.Glu8380=) c.25137G>A (p.Glu8379=) c.25134G>A (p.Glu8378=) c.25290G>A (p.Glu8430=) c.25128G>A (p.Glu8376=) c.23568G>A (p.Glu7856=) c.23061G>A (p.Glu7687=) c.18528G>A (p.Glu6176=) c.1794G>A (p.Glu598=) c.25266G>A (p.Glu8422=) c.25215G>A (p.Glu8405=) c.25068G>A (p.Glu8356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141262T>A | CA366082131 | SYNE1 | c.1721A>T (p.Glu574Val) c.25187A>T (p.Glu8396Val) c.25043A>T (p.Glu8348Val) c.589A>T c.922A>T c.891-1101A>T c.959A>T (p.Glu320Val) c.23972A>T (p.Glu7991Val) n.1935A>T c.4022A>T (p.Glu1341Val) n.8879A>T c.3125A>T (p.Glu1042Val) n.8771A>T n.1801A>T n.4209A>T n.2024A>T c.1652A>T (p.Glu551Val) c.25292A>T (p.Glu8431Val) c.25280A>T (p.Glu8427Val) c.25271A>T (p.Glu8424Val) c.25241A>T (p.Glu8414Val) c.25277A>T (p.Glu8426Val) c.25223A>T (p.Glu8408Val) c.25220A>T (p.Glu8407Val) c.25208A>T (p.Glu8403Val) c.25151A>T (p.Glu8384Val) c.25139A>T (p.Glu8380Val) c.25136A>T (p.Glu8379Val) c.25133A>T (p.Glu8378Val) c.25289A>T (p.Glu8430Val) c.25127A>T (p.Glu8376Val) c.23567A>T (p.Glu7856Val) c.23060A>T (p.Glu7687Val) c.18527A>T (p.Glu6176Val) c.1793A>T (p.Glu598Val) c.25265A>T (p.Glu8422Val) c.25214A>T (p.Glu8405Val) c.25067A>T (p.Glu8356Val) | |
| 6 | g.152141262T>C | CA366082133 | SYNE1 | c.1721A>G (p.Glu574Gly) c.25187A>G (p.Glu8396Gly) c.25043A>G (p.Glu8348Gly) c.589A>G c.922A>G c.891-1101A>G c.959A>G (p.Glu320Gly) c.23972A>G (p.Glu7991Gly) n.1935A>G c.4022A>G (p.Glu1341Gly) n.8879A>G c.3125A>G (p.Glu1042Gly) n.8771A>G n.1801A>G n.4209A>G n.2024A>G c.1652A>G (p.Glu551Gly) c.25292A>G (p.Glu8431Gly) c.25280A>G (p.Glu8427Gly) c.25271A>G (p.Glu8424Gly) c.25241A>G (p.Glu8414Gly) c.25277A>G (p.Glu8426Gly) c.25223A>G (p.Glu8408Gly) c.25220A>G (p.Glu8407Gly) c.25208A>G (p.Glu8403Gly) c.25151A>G (p.Glu8384Gly) c.25139A>G (p.Glu8380Gly) c.25136A>G (p.Glu8379Gly) c.25133A>G (p.Glu8378Gly) c.25289A>G (p.Glu8430Gly) c.25127A>G (p.Glu8376Gly) c.23567A>G (p.Glu7856Gly) c.23060A>G (p.Glu7687Gly) c.18527A>G (p.Glu6176Gly) c.1793A>G (p.Glu598Gly) c.25265A>G (p.Glu8422Gly) c.25214A>G (p.Glu8405Gly) c.25067A>G (p.Glu8356Gly) | |
| 6 | g.152141262T>G | CA366082134 | SYNE1 | c.1721A>C (p.Glu574Ala) c.25187A>C (p.Glu8396Ala) c.25043A>C (p.Glu8348Ala) c.589A>C c.922A>C c.891-1101A>C c.959A>C (p.Glu320Ala) c.23972A>C (p.Glu7991Ala) n.1935A>C c.4022A>C (p.Glu1341Ala) n.8879A>C c.3125A>C (p.Glu1042Ala) n.8771A>C n.1801A>C n.4209A>C n.2024A>C c.1652A>C (p.Glu551Ala) c.25292A>C (p.Glu8431Ala) c.25280A>C (p.Glu8427Ala) c.25271A>C (p.Glu8424Ala) c.25241A>C (p.Glu8414Ala) c.25277A>C (p.Glu8426Ala) c.25223A>C (p.Glu8408Ala) c.25220A>C (p.Glu8407Ala) c.25208A>C (p.Glu8403Ala) c.25151A>C (p.Glu8384Ala) c.25139A>C (p.Glu8380Ala) c.25136A>C (p.Glu8379Ala) c.25133A>C (p.Glu8378Ala) c.25289A>C (p.Glu8430Ala) c.25127A>C (p.Glu8376Ala) c.23567A>C (p.Glu7856Ala) c.23060A>C (p.Glu7687Ala) c.18527A>C (p.Glu6176Ala) c.1793A>C (p.Glu598Ala) c.25265A>C (p.Glu8422Ala) c.25214A>C (p.Glu8405Ala) c.25067A>C (p.Glu8356Ala) | |
| 6 | g.152141263C>A | CA366082137 | SYNE1 | c.1720G>T (p.Glu574Ter) c.25186G>T (p.Glu8396Ter) c.25042G>T (p.Glu8348Ter) c.588G>T c.921G>T c.891-1102G>T c.958G>T (p.Glu320Ter) c.23971G>T (p.Glu7991Ter) n.1934G>T c.4021G>T (p.Glu1341Ter) n.8878G>T c.3124G>T (p.Glu1042Ter) n.8770G>T n.1800G>T n.4208G>T n.2023G>T c.1651G>T (p.Glu551Ter) c.25291G>T (p.Glu8431Ter) c.25279G>T (p.Glu8427Ter) c.25270G>T (p.Glu8424Ter) c.25240G>T (p.Glu8414Ter) c.25276G>T (p.Glu8426Ter) c.25222G>T (p.Glu8408Ter) c.25219G>T (p.Glu8407Ter) c.25207G>T (p.Glu8403Ter) c.25150G>T (p.Glu8384Ter) c.25138G>T (p.Glu8380Ter) c.25135G>T (p.Glu8379Ter) c.25132G>T (p.Glu8378Ter) c.25288G>T (p.Glu8430Ter) c.25126G>T (p.Glu8376Ter) c.23566G>T (p.Glu7856Ter) c.23059G>T (p.Glu7687Ter) c.18526G>T (p.Glu6176Ter) c.1792G>T (p.Glu598Ter) c.25264G>T (p.Glu8422Ter) c.25213G>T (p.Glu8405Ter) c.25066G>T (p.Glu8356Ter) | |
| 6 | g.152141263C>G | CA366082138 | SYNE1 | c.1720G>C (p.Glu574Gln) c.25186G>C (p.Glu8396Gln) c.25042G>C (p.Glu8348Gln) c.588G>C c.921G>C c.891-1102G>C c.958G>C (p.Glu320Gln) c.23971G>C (p.Glu7991Gln) n.1934G>C c.4021G>C (p.Glu1341Gln) n.8878G>C c.3124G>C (p.Glu1042Gln) n.8770G>C n.1800G>C n.4208G>C n.2023G>C c.1651G>C (p.Glu551Gln) c.25291G>C (p.Glu8431Gln) c.25279G>C (p.Glu8427Gln) c.25270G>C (p.Glu8424Gln) c.25240G>C (p.Glu8414Gln) c.25276G>C (p.Glu8426Gln) c.25222G>C (p.Glu8408Gln) c.25219G>C (p.Glu8407Gln) c.25207G>C (p.Glu8403Gln) c.25150G>C (p.Glu8384Gln) c.25138G>C (p.Glu8380Gln) c.25135G>C (p.Glu8379Gln) c.25132G>C (p.Glu8378Gln) c.25288G>C (p.Glu8430Gln) c.25126G>C (p.Glu8376Gln) c.23566G>C (p.Glu7856Gln) c.23059G>C (p.Glu7687Gln) c.18526G>C (p.Glu6176Gln) c.1792G>C (p.Glu598Gln) c.25264G>C (p.Glu8422Gln) c.25213G>C (p.Glu8405Gln) c.25066G>C (p.Glu8356Gln) | |
| 6 | g.152141263C>T | CA366082140 | SYNE1 | c.1720G>A (p.Glu574Lys) c.25186G>A (p.Glu8396Lys) c.25042G>A (p.Glu8348Lys) c.588G>A c.921G>A c.891-1102G>A c.958G>A (p.Glu320Lys) c.23971G>A (p.Glu7991Lys) n.1934G>A c.4021G>A (p.Glu1341Lys) n.8878G>A c.3124G>A (p.Glu1042Lys) n.8770G>A n.1800G>A n.4208G>A n.2023G>A c.1651G>A (p.Glu551Lys) c.25291G>A (p.Glu8431Lys) c.25279G>A (p.Glu8427Lys) c.25270G>A (p.Glu8424Lys) c.25240G>A (p.Glu8414Lys) c.25276G>A (p.Glu8426Lys) c.25222G>A (p.Glu8408Lys) c.25219G>A (p.Glu8407Lys) c.25207G>A (p.Glu8403Lys) c.25150G>A (p.Glu8384Lys) c.25138G>A (p.Glu8380Lys) c.25135G>A (p.Glu8379Lys) c.25132G>A (p.Glu8378Lys) c.25288G>A (p.Glu8430Lys) c.25126G>A (p.Glu8376Lys) c.23566G>A (p.Glu7856Lys) c.23059G>A (p.Glu7687Lys) c.18526G>A (p.Glu6176Lys) c.1792G>A (p.Glu598Lys) c.25264G>A (p.Glu8422Lys) c.25213G>A (p.Glu8405Lys) c.25066G>A (p.Glu8356Lys) | |
| 6 | g.152141264C>A | CA366082143 | SYNE1 | c.1719G>T (p.Lys573Asn) c.25185G>T (p.Lys8395Asn) c.25041G>T (p.Lys8347Asn) c.587G>T c.920G>T c.891-1103G>T c.957G>T (p.Lys319Asn) c.23970G>T (p.Lys7990Asn) n.1933G>T c.4020G>T (p.Lys1340Asn) n.8877G>T c.3123G>T (p.Lys1041Asn) n.8769G>T n.1799G>T n.4207G>T n.2022G>T c.1650G>T (p.Lys550Asn) c.25290G>T (p.Lys8430Asn) c.25278G>T (p.Lys8426Asn) c.25269G>T (p.Lys8423Asn) c.25239G>T (p.Lys8413Asn) c.25275G>T (p.Lys8425Asn) c.25221G>T (p.Lys8407Asn) c.25218G>T (p.Lys8406Asn) c.25206G>T (p.Lys8402Asn) c.25149G>T (p.Lys8383Asn) c.25137G>T (p.Lys8379Asn) c.25134G>T (p.Lys8378Asn) c.25131G>T (p.Lys8377Asn) c.25287G>T (p.Lys8429Asn) c.25125G>T (p.Lys8375Asn) c.23565G>T (p.Lys7855Asn) c.23058G>T (p.Lys7686Asn) c.18525G>T (p.Lys6175Asn) c.1791G>T (p.Lys597Asn) c.25263G>T (p.Lys8421Asn) c.25212G>T (p.Lys8404Asn) c.25065G>T (p.Lys8355Asn) | |
| 6 | g.152141264C>G | CA366082144 | SYNE1 | c.1719G>C (p.Lys573Asn) c.25185G>C (p.Lys8395Asn) c.25041G>C (p.Lys8347Asn) c.587G>C c.920G>C c.891-1103G>C c.957G>C (p.Lys319Asn) c.23970G>C (p.Lys7990Asn) n.1933G>C c.4020G>C (p.Lys1340Asn) n.8877G>C c.3123G>C (p.Lys1041Asn) n.8769G>C n.1799G>C n.4207G>C n.2022G>C c.1650G>C (p.Lys550Asn) c.25290G>C (p.Lys8430Asn) c.25278G>C (p.Lys8426Asn) c.25269G>C (p.Lys8423Asn) c.25239G>C (p.Lys8413Asn) c.25275G>C (p.Lys8425Asn) c.25221G>C (p.Lys8407Asn) c.25218G>C (p.Lys8406Asn) c.25206G>C (p.Lys8402Asn) c.25149G>C (p.Lys8383Asn) c.25137G>C (p.Lys8379Asn) c.25134G>C (p.Lys8378Asn) c.25131G>C (p.Lys8377Asn) c.25287G>C (p.Lys8429Asn) c.25125G>C (p.Lys8375Asn) c.23565G>C (p.Lys7855Asn) c.23058G>C (p.Lys7686Asn) c.18525G>C (p.Lys6175Asn) c.1791G>C (p.Lys597Asn) c.25263G>C (p.Lys8421Asn) c.25212G>C (p.Lys8404Asn) c.25065G>C (p.Lys8355Asn) | |
| 6 | g.152141264C>T | CA452747106 | SYNE1 | c.1719G>A (p.Lys573=) c.25185G>A (p.Lys8395=) c.25041G>A (p.Lys8347=) c.587G>A c.920G>A c.891-1103G>A c.957G>A (p.Lys319=) c.23970G>A (p.Lys7990=) n.1933G>A c.4020G>A (p.Lys1340=) n.8877G>A c.3123G>A (p.Lys1041=) n.8769G>A n.1799G>A n.4207G>A n.2022G>A c.1650G>A (p.Lys550=) c.25290G>A (p.Lys8430=) c.25278G>A (p.Lys8426=) c.25269G>A (p.Lys8423=) c.25239G>A (p.Lys8413=) c.25275G>A (p.Lys8425=) c.25221G>A (p.Lys8407=) c.25218G>A (p.Lys8406=) c.25206G>A (p.Lys8402=) c.25149G>A (p.Lys8383=) c.25137G>A (p.Lys8379=) c.25134G>A (p.Lys8378=) c.25131G>A (p.Lys8377=) c.25287G>A (p.Lys8429=) c.25125G>A (p.Lys8375=) c.23565G>A (p.Lys7855=) c.23058G>A (p.Lys7686=) c.18525G>A (p.Lys6175=) c.1791G>A (p.Lys597=) c.25263G>A (p.Lys8421=) c.25212G>A (p.Lys8404=) c.25065G>A (p.Lys8355=) | gnomAD v4 |
| 6 | g.152141265T>A | CA366082146 | SYNE1 | c.1718A>T (p.Lys573Met) c.25184A>T (p.Lys8395Met) c.25040A>T (p.Lys8347Met) c.586A>T c.919A>T c.891-1104A>T c.956A>T (p.Lys319Met) c.23969A>T (p.Lys7990Met) n.1932A>T c.4019A>T (p.Lys1340Met) n.8876A>T c.3122A>T (p.Lys1041Met) n.8768A>T n.1798A>T n.4206A>T n.2021A>T c.1649A>T (p.Lys550Met) c.25289A>T (p.Lys8430Met) c.25277A>T (p.Lys8426Met) c.25268A>T (p.Lys8423Met) c.25238A>T (p.Lys8413Met) c.25274A>T (p.Lys8425Met) c.25220A>T (p.Lys8407Met) c.25217A>T (p.Lys8406Met) c.25205A>T (p.Lys8402Met) c.25148A>T (p.Lys8383Met) c.25136A>T (p.Lys8379Met) c.25133A>T (p.Lys8378Met) c.25130A>T (p.Lys8377Met) c.25286A>T (p.Lys8429Met) c.25124A>T (p.Lys8375Met) c.23564A>T (p.Lys7855Met) c.23057A>T (p.Lys7686Met) c.18524A>T (p.Lys6175Met) c.1790A>T (p.Lys597Met) c.25262A>T (p.Lys8421Met) c.25211A>T (p.Lys8404Met) c.25064A>T (p.Lys8355Met) | |
| 6 | g.152141265T>C | CA366082147 | SYNE1 | c.1718A>G (p.Lys573Arg) c.25184A>G (p.Lys8395Arg) c.25040A>G (p.Lys8347Arg) c.586A>G c.919A>G c.891-1104A>G c.956A>G (p.Lys319Arg) c.23969A>G (p.Lys7990Arg) n.1932A>G c.4019A>G (p.Lys1340Arg) n.8876A>G c.3122A>G (p.Lys1041Arg) n.8768A>G n.1798A>G n.4206A>G n.2021A>G c.1649A>G (p.Lys550Arg) c.25289A>G (p.Lys8430Arg) c.25277A>G (p.Lys8426Arg) c.25268A>G (p.Lys8423Arg) c.25238A>G (p.Lys8413Arg) c.25274A>G (p.Lys8425Arg) c.25220A>G (p.Lys8407Arg) c.25217A>G (p.Lys8406Arg) c.25205A>G (p.Lys8402Arg) c.25148A>G (p.Lys8383Arg) c.25136A>G (p.Lys8379Arg) c.25133A>G (p.Lys8378Arg) c.25130A>G (p.Lys8377Arg) c.25286A>G (p.Lys8429Arg) c.25124A>G (p.Lys8375Arg) c.23564A>G (p.Lys7855Arg) c.23057A>G (p.Lys7686Arg) c.18524A>G (p.Lys6175Arg) c.1790A>G (p.Lys597Arg) c.25262A>G (p.Lys8421Arg) c.25211A>G (p.Lys8404Arg) c.25064A>G (p.Lys8355Arg) | gnomAD v4 |
| 6 | g.152141265T>G | CA366082149 | SYNE1 | c.1718A>C (p.Lys573Thr) c.25184A>C (p.Lys8395Thr) c.25040A>C (p.Lys8347Thr) c.586A>C c.919A>C c.891-1104A>C c.956A>C (p.Lys319Thr) c.23969A>C (p.Lys7990Thr) n.1932A>C c.4019A>C (p.Lys1340Thr) n.8876A>C c.3122A>C (p.Lys1041Thr) n.8768A>C n.1798A>C n.4206A>C n.2021A>C c.1649A>C (p.Lys550Thr) c.25289A>C (p.Lys8430Thr) c.25277A>C (p.Lys8426Thr) c.25268A>C (p.Lys8423Thr) c.25238A>C (p.Lys8413Thr) c.25274A>C (p.Lys8425Thr) c.25220A>C (p.Lys8407Thr) c.25217A>C (p.Lys8406Thr) c.25205A>C (p.Lys8402Thr) c.25148A>C (p.Lys8383Thr) c.25136A>C (p.Lys8379Thr) c.25133A>C (p.Lys8378Thr) c.25130A>C (p.Lys8377Thr) c.25286A>C (p.Lys8429Thr) c.25124A>C (p.Lys8375Thr) c.23564A>C (p.Lys7855Thr) c.23057A>C (p.Lys7686Thr) c.18524A>C (p.Lys6175Thr) c.1790A>C (p.Lys597Thr) c.25262A>C (p.Lys8421Thr) c.25211A>C (p.Lys8404Thr) c.25064A>C (p.Lys8355Thr) | |
| 6 | g.152141266T>A | CA366082154 | SYNE1 | c.1717A>T (p.Lys573Ter) c.25183A>T (p.Lys8395Ter) c.25039A>T (p.Lys8347Ter) c.585A>T c.918A>T c.891-1105A>T c.955A>T (p.Lys319Ter) c.23968A>T (p.Lys7990Ter) n.1931A>T c.4018A>T (p.Lys1340Ter) n.8875A>T c.3121A>T (p.Lys1041Ter) n.8767A>T n.1797A>T n.4205A>T n.2020A>T c.1648A>T (p.Lys550Ter) c.25288A>T (p.Lys8430Ter) c.25276A>T (p.Lys8426Ter) c.25267A>T (p.Lys8423Ter) c.25237A>T (p.Lys8413Ter) c.25273A>T (p.Lys8425Ter) c.25219A>T (p.Lys8407Ter) c.25216A>T (p.Lys8406Ter) c.25204A>T (p.Lys8402Ter) c.25147A>T (p.Lys8383Ter) c.25135A>T (p.Lys8379Ter) c.25132A>T (p.Lys8378Ter) c.25129A>T (p.Lys8377Ter) c.25285A>T (p.Lys8429Ter) c.25123A>T (p.Lys8375Ter) c.23563A>T (p.Lys7855Ter) c.23056A>T (p.Lys7686Ter) c.18523A>T (p.Lys6175Ter) c.1789A>T (p.Lys597Ter) c.25261A>T (p.Lys8421Ter) c.25210A>T (p.Lys8404Ter) c.25063A>T (p.Lys8355Ter) | |
| 6 | g.152141266T>C | CA366082152 | SYNE1 | c.1717A>G (p.Lys573Glu) c.25183A>G (p.Lys8395Glu) c.25039A>G (p.Lys8347Glu) c.585A>G c.918A>G c.891-1105A>G c.955A>G (p.Lys319Glu) c.23968A>G (p.Lys7990Glu) n.1931A>G c.4018A>G (p.Lys1340Glu) n.8875A>G c.3121A>G (p.Lys1041Glu) n.8767A>G n.1797A>G n.4205A>G n.2020A>G c.1648A>G (p.Lys550Glu) c.25288A>G (p.Lys8430Glu) c.25276A>G (p.Lys8426Glu) c.25267A>G (p.Lys8423Glu) c.25237A>G (p.Lys8413Glu) c.25273A>G (p.Lys8425Glu) c.25219A>G (p.Lys8407Glu) c.25216A>G (p.Lys8406Glu) c.25204A>G (p.Lys8402Glu) c.25147A>G (p.Lys8383Glu) c.25135A>G (p.Lys8379Glu) c.25132A>G (p.Lys8378Glu) c.25129A>G (p.Lys8377Glu) c.25285A>G (p.Lys8429Glu) c.25123A>G (p.Lys8375Glu) c.23563A>G (p.Lys7855Glu) c.23056A>G (p.Lys7686Glu) c.18523A>G (p.Lys6175Glu) c.1789A>G (p.Lys597Glu) c.25261A>G (p.Lys8421Glu) c.25210A>G (p.Lys8404Glu) c.25063A>G (p.Lys8355Glu) | |
| 6 | g.152141266T>G | CA4052907 | SYNE1 | c.1717A>C (p.Lys573Gln) c.25183A>C (p.Lys8395Gln) c.25039A>C (p.Lys8347Gln) c.585A>C c.918A>C c.891-1105A>C c.955A>C (p.Lys319Gln) c.23968A>C (p.Lys7990Gln) n.1931A>C c.4018A>C (p.Lys1340Gln) n.8875A>C c.3121A>C (p.Lys1041Gln) n.8767A>C n.1797A>C n.4205A>C n.2020A>C c.1648A>C (p.Lys550Gln) c.25288A>C (p.Lys8430Gln) c.25276A>C (p.Lys8426Gln) c.25267A>C (p.Lys8423Gln) c.25237A>C (p.Lys8413Gln) c.25273A>C (p.Lys8425Gln) c.25219A>C (p.Lys8407Gln) c.25216A>C (p.Lys8406Gln) c.25204A>C (p.Lys8402Gln) c.25147A>C (p.Lys8383Gln) c.25135A>C (p.Lys8379Gln) c.25132A>C (p.Lys8378Gln) c.25129A>C (p.Lys8377Gln) c.25285A>C (p.Lys8429Gln) c.25123A>C (p.Lys8375Gln) c.23563A>C (p.Lys7855Gln) c.23056A>C (p.Lys7686Gln) c.18523A>C (p.Lys6175Gln) c.1789A>C (p.Lys597Gln) c.25261A>C (p.Lys8421Gln) c.25210A>C (p.Lys8404Gln) c.25063A>C (p.Lys8355Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141266T= | CA1673207679 | SYNE1 | c.1717A= (p.Lys573=) c.25183A= (p.Lys8395=) c.25039A= (p.Lys8347=) c.585A= c.918A= c.891-1105A= c.955A= (p.Lys319=) c.23968A= (p.Lys7990=) n.1931A= c.4018A= (p.Lys1340=) n.8875A= c.3121A= (p.Lys1041=) n.8767A= n.1797A= n.4205A= n.2020A= c.1648A= (p.Lys550=) c.25288A= (p.Lys8430=) c.25276A= (p.Lys8426=) c.25267A= (p.Lys8423=) c.25237A= (p.Lys8413=) c.25273A= (p.Lys8425=) c.25219A= (p.Lys8407=) c.25216A= (p.Lys8406=) c.25204A= (p.Lys8402=) c.25147A= (p.Lys8383=) c.25135A= (p.Lys8379=) c.25132A= (p.Lys8378=) c.25129A= (p.Lys8377=) c.25285A= (p.Lys8429=) c.25123A= (p.Lys8375=) c.23563A= (p.Lys7855=) c.23056A= (p.Lys7686=) c.18523A= (p.Lys6175=) c.1789A= (p.Lys597=) c.25261A= (p.Lys8421=) c.25210A= (p.Lys8404=) c.25063A= (p.Lys8355=) | |
| 6 | g.152141267C>A | CA452747109 | SYNE1 | c.1716G>T (p.Leu572=) c.25182G>T (p.Leu8394=) c.25038G>T (p.Leu8346=) c.584G>T c.917G>T c.891-1106G>T c.954G>T (p.Leu318=) c.23967G>T (p.Leu7989=) n.1930G>T c.4017G>T (p.Leu1339=) n.8874G>T c.3120G>T (p.Leu1040=) n.8766G>T n.1796G>T n.4204G>T n.2019G>T c.1647G>T (p.Leu549=) c.25287G>T (p.Leu8429=) c.25275G>T (p.Leu8425=) c.25266G>T (p.Leu8422=) c.25236G>T (p.Leu8412=) c.25272G>T (p.Leu8424=) c.25218G>T (p.Leu8406=) c.25215G>T (p.Leu8405=) c.25203G>T (p.Leu8401=) c.25146G>T (p.Leu8382=) c.25134G>T (p.Leu8378=) c.25131G>T (p.Leu8377=) c.25128G>T (p.Leu8376=) c.25284G>T (p.Leu8428=) c.25122G>T (p.Leu8374=) c.23562G>T (p.Leu7854=) c.23055G>T (p.Leu7685=) c.18522G>T (p.Leu6174=) c.1788G>T (p.Leu596=) c.25260G>T (p.Leu8420=) c.25209G>T (p.Leu8403=) c.25062G>T (p.Leu8354=) | |
| 6 | g.152141267C>G | CA452747108 | SYNE1 | c.1716G>C (p.Leu572=) c.25182G>C (p.Leu8394=) c.25038G>C (p.Leu8346=) c.584G>C c.917G>C c.891-1106G>C c.954G>C (p.Leu318=) c.23967G>C (p.Leu7989=) n.1930G>C c.4017G>C (p.Leu1339=) n.8874G>C c.3120G>C (p.Leu1040=) n.8766G>C n.1796G>C n.4204G>C n.2019G>C c.1647G>C (p.Leu549=) c.25287G>C (p.Leu8429=) c.25275G>C (p.Leu8425=) c.25266G>C (p.Leu8422=) c.25236G>C (p.Leu8412=) c.25272G>C (p.Leu8424=) c.25218G>C (p.Leu8406=) c.25215G>C (p.Leu8405=) c.25203G>C (p.Leu8401=) c.25146G>C (p.Leu8382=) c.25134G>C (p.Leu8378=) c.25131G>C (p.Leu8377=) c.25128G>C (p.Leu8376=) c.25284G>C (p.Leu8428=) c.25122G>C (p.Leu8374=) c.23562G>C (p.Leu7854=) c.23055G>C (p.Leu7685=) c.18522G>C (p.Leu6174=) c.1788G>C (p.Leu596=) c.25260G>C (p.Leu8420=) c.25209G>C (p.Leu8403=) c.25062G>C (p.Leu8354=) | |
| 6 | g.152141267C>T | CA452747107 | SYNE1 | c.1716G>A (p.Leu572=) c.25182G>A (p.Leu8394=) c.25038G>A (p.Leu8346=) c.584G>A c.917G>A c.891-1106G>A c.954G>A (p.Leu318=) c.23967G>A (p.Leu7989=) n.1930G>A c.4017G>A (p.Leu1339=) n.8874G>A c.3120G>A (p.Leu1040=) n.8766G>A n.1796G>A n.4204G>A n.2019G>A c.1647G>A (p.Leu549=) c.25287G>A (p.Leu8429=) c.25275G>A (p.Leu8425=) c.25266G>A (p.Leu8422=) c.25236G>A (p.Leu8412=) c.25272G>A (p.Leu8424=) c.25218G>A (p.Leu8406=) c.25215G>A (p.Leu8405=) c.25203G>A (p.Leu8401=) c.25146G>A (p.Leu8382=) c.25134G>A (p.Leu8378=) c.25131G>A (p.Leu8377=) c.25128G>A (p.Leu8376=) c.25284G>A (p.Leu8428=) c.25122G>A (p.Leu8374=) c.23562G>A (p.Leu7854=) c.23055G>A (p.Leu7685=) c.18522G>A (p.Leu6174=) c.1788G>A (p.Leu596=) c.25260G>A (p.Leu8420=) c.25209G>A (p.Leu8403=) c.25062G>A (p.Leu8354=) | gnomAD v4 |
| 6 | g.152141268A>C | CA366082160 | SYNE1 | c.1715T>G (p.Leu572Arg) c.25181T>G (p.Leu8394Arg) c.25037T>G (p.Leu8346Arg) c.583T>G c.916T>G c.891-1107T>G c.953T>G (p.Leu318Arg) c.23966T>G (p.Leu7989Arg) n.1929T>G c.4016T>G (p.Leu1339Arg) n.8873T>G c.3119T>G (p.Leu1040Arg) n.8765T>G n.1795T>G n.4203T>G n.2018T>G c.1646T>G (p.Leu549Arg) c.25286T>G (p.Leu8429Arg) c.25274T>G (p.Leu8425Arg) c.25265T>G (p.Leu8422Arg) c.25235T>G (p.Leu8412Arg) c.25271T>G (p.Leu8424Arg) c.25217T>G (p.Leu8406Arg) c.25214T>G (p.Leu8405Arg) c.25202T>G (p.Leu8401Arg) c.25145T>G (p.Leu8382Arg) c.25133T>G (p.Leu8378Arg) c.25130T>G (p.Leu8377Arg) c.25127T>G (p.Leu8376Arg) c.25283T>G (p.Leu8428Arg) c.25121T>G (p.Leu8374Arg) c.23561T>G (p.Leu7854Arg) c.23054T>G (p.Leu7685Arg) c.18521T>G (p.Leu6174Arg) c.1787T>G (p.Leu596Arg) c.25259T>G (p.Leu8420Arg) c.25208T>G (p.Leu8403Arg) c.25061T>G (p.Leu8354Arg) | gnomAD v4 |
| 6 | g.152141268A>G | CA366082157 | SYNE1 | c.1715T>C (p.Leu572Pro) c.25181T>C (p.Leu8394Pro) c.25037T>C (p.Leu8346Pro) c.583T>C c.916T>C c.891-1107T>C c.953T>C (p.Leu318Pro) c.23966T>C (p.Leu7989Pro) n.1929T>C c.4016T>C (p.Leu1339Pro) n.8873T>C c.3119T>C (p.Leu1040Pro) n.8765T>C n.1795T>C n.4203T>C n.2018T>C c.1646T>C (p.Leu549Pro) c.25286T>C (p.Leu8429Pro) c.25274T>C (p.Leu8425Pro) c.25265T>C (p.Leu8422Pro) c.25235T>C (p.Leu8412Pro) c.25271T>C (p.Leu8424Pro) c.25217T>C (p.Leu8406Pro) c.25214T>C (p.Leu8405Pro) c.25202T>C (p.Leu8401Pro) c.25145T>C (p.Leu8382Pro) c.25133T>C (p.Leu8378Pro) c.25130T>C (p.Leu8377Pro) c.25127T>C (p.Leu8376Pro) c.25283T>C (p.Leu8428Pro) c.25121T>C (p.Leu8374Pro) c.23561T>C (p.Leu7854Pro) c.23054T>C (p.Leu7685Pro) c.18521T>C (p.Leu6174Pro) c.1787T>C (p.Leu596Pro) c.25259T>C (p.Leu8420Pro) c.25208T>C (p.Leu8403Pro) c.25061T>C (p.Leu8354Pro) | |
| 6 | g.152141268A>T | CA366082158 | SYNE1 | c.1715T>A (p.Leu572Gln) c.25181T>A (p.Leu8394Gln) c.25037T>A (p.Leu8346Gln) c.583T>A c.916T>A c.891-1107T>A c.953T>A (p.Leu318Gln) c.23966T>A (p.Leu7989Gln) n.1929T>A c.4016T>A (p.Leu1339Gln) n.8873T>A c.3119T>A (p.Leu1040Gln) n.8765T>A n.1795T>A n.4203T>A n.2018T>A c.1646T>A (p.Leu549Gln) c.25286T>A (p.Leu8429Gln) c.25274T>A (p.Leu8425Gln) c.25265T>A (p.Leu8422Gln) c.25235T>A (p.Leu8412Gln) c.25271T>A (p.Leu8424Gln) c.25217T>A (p.Leu8406Gln) c.25214T>A (p.Leu8405Gln) c.25202T>A (p.Leu8401Gln) c.25145T>A (p.Leu8382Gln) c.25133T>A (p.Leu8378Gln) c.25130T>A (p.Leu8377Gln) c.25127T>A (p.Leu8376Gln) c.25283T>A (p.Leu8428Gln) c.25121T>A (p.Leu8374Gln) c.23561T>A (p.Leu7854Gln) c.23054T>A (p.Leu7685Gln) c.18521T>A (p.Leu6174Gln) c.1787T>A (p.Leu596Gln) c.25259T>A (p.Leu8420Gln) c.25208T>A (p.Leu8403Gln) c.25061T>A (p.Leu8354Gln) | |
| 6 | g.152141269G>A | CA452747110 | SYNE1 | c.1714C>T (p.Leu572=) c.25180C>T (p.Leu8394=) c.25036C>T (p.Leu8346=) c.582C>T c.915C>T c.891-1108C>T c.952C>T (p.Leu318=) c.23965C>T (p.Leu7989=) n.1928C>T c.4015C>T (p.Leu1339=) n.8872C>T c.3118C>T (p.Leu1040=) n.8764C>T n.1794C>T n.4202C>T n.2017C>T c.1645C>T (p.Leu549=) c.25285C>T (p.Leu8429=) c.25273C>T (p.Leu8425=) c.25264C>T (p.Leu8422=) c.25234C>T (p.Leu8412=) c.25270C>T (p.Leu8424=) c.25216C>T (p.Leu8406=) c.25213C>T (p.Leu8405=) c.25201C>T (p.Leu8401=) c.25144C>T (p.Leu8382=) c.25132C>T (p.Leu8378=) c.25129C>T (p.Leu8377=) c.25126C>T (p.Leu8376=) c.25282C>T (p.Leu8428=) c.25120C>T (p.Leu8374=) c.23560C>T (p.Leu7854=) c.23053C>T (p.Leu7685=) c.18520C>T (p.Leu6174=) c.1786C>T (p.Leu596=) c.25258C>T (p.Leu8420=) c.25207C>T (p.Leu8403=) c.25060C>T (p.Leu8354=) | |
| 6 | g.152141269G>C | CA366082163 | SYNE1 | c.1714C>G (p.Leu572Val) c.25180C>G (p.Leu8394Val) c.25036C>G (p.Leu8346Val) c.582C>G c.915C>G c.891-1108C>G c.952C>G (p.Leu318Val) c.23965C>G (p.Leu7989Val) n.1928C>G c.4015C>G (p.Leu1339Val) n.8872C>G c.3118C>G (p.Leu1040Val) n.8764C>G n.1794C>G n.4202C>G n.2017C>G c.1645C>G (p.Leu549Val) c.25285C>G (p.Leu8429Val) c.25273C>G (p.Leu8425Val) c.25264C>G (p.Leu8422Val) c.25234C>G (p.Leu8412Val) c.25270C>G (p.Leu8424Val) c.25216C>G (p.Leu8406Val) c.25213C>G (p.Leu8405Val) c.25201C>G (p.Leu8401Val) c.25144C>G (p.Leu8382Val) c.25132C>G (p.Leu8378Val) c.25129C>G (p.Leu8377Val) c.25126C>G (p.Leu8376Val) c.25282C>G (p.Leu8428Val) c.25120C>G (p.Leu8374Val) c.23560C>G (p.Leu7854Val) c.23053C>G (p.Leu7685Val) c.18520C>G (p.Leu6174Val) c.1786C>G (p.Leu596Val) c.25258C>G (p.Leu8420Val) c.25207C>G (p.Leu8403Val) c.25060C>G (p.Leu8354Val) | |
| 6 | g.152141269G>T | CA366082165 | SYNE1 | c.1714C>A (p.Leu572Met) c.25180C>A (p.Leu8394Met) c.25036C>A (p.Leu8346Met) c.582C>A c.915C>A c.891-1108C>A c.952C>A (p.Leu318Met) c.23965C>A (p.Leu7989Met) n.1928C>A c.4015C>A (p.Leu1339Met) n.8872C>A c.3118C>A (p.Leu1040Met) n.8764C>A n.1794C>A n.4202C>A n.2017C>A c.1645C>A (p.Leu549Met) c.25285C>A (p.Leu8429Met) c.25273C>A (p.Leu8425Met) c.25264C>A (p.Leu8422Met) c.25234C>A (p.Leu8412Met) c.25270C>A (p.Leu8424Met) c.25216C>A (p.Leu8406Met) c.25213C>A (p.Leu8405Met) c.25201C>A (p.Leu8401Met) c.25144C>A (p.Leu8382Met) c.25132C>A (p.Leu8378Met) c.25129C>A (p.Leu8377Met) c.25126C>A (p.Leu8376Met) c.25282C>A (p.Leu8428Met) c.25120C>A (p.Leu8374Met) c.23560C>A (p.Leu7854Met) c.23053C>A (p.Leu7685Met) c.18520C>A (p.Leu6174Met) c.1786C>A (p.Leu596Met) c.25258C>A (p.Leu8420Met) c.25207C>A (p.Leu8403Met) c.25060C>A (p.Leu8354Met) | |
| 6 | g.152141270T>A | CA366082167 | SYNE1 | c.1713A>T (p.Lys571Asn) c.25179A>T (p.Lys8393Asn) c.25035A>T (p.Lys8345Asn) c.581A>T c.914A>T c.891-1109A>T c.951A>T (p.Lys317Asn) c.23964A>T (p.Lys7988Asn) n.1927A>T c.4014A>T (p.Lys1338Asn) n.8871A>T c.3117A>T (p.Lys1039Asn) n.8763A>T n.1793A>T n.4201A>T n.2016A>T c.1644A>T (p.Lys548Asn) c.25284A>T (p.Lys8428Asn) c.25272A>T (p.Lys8424Asn) c.25263A>T (p.Lys8421Asn) c.25233A>T (p.Lys8411Asn) c.25269A>T (p.Lys8423Asn) c.25215A>T (p.Lys8405Asn) c.25212A>T (p.Lys8404Asn) c.25200A>T (p.Lys8400Asn) c.25143A>T (p.Lys8381Asn) c.25131A>T (p.Lys8377Asn) c.25128A>T (p.Lys8376Asn) c.25125A>T (p.Lys8375Asn) c.25281A>T (p.Lys8427Asn) c.25119A>T (p.Lys8373Asn) c.23559A>T (p.Lys7853Asn) c.23052A>T (p.Lys7684Asn) c.18519A>T (p.Lys6173Asn) c.1785A>T (p.Lys595Asn) c.25257A>T (p.Lys8419Asn) c.25206A>T (p.Lys8402Asn) c.25059A>T (p.Lys8353Asn) | |
| 6 | g.152141270T>C | CA452747111 | SYNE1 | c.1713A>G (p.Lys571=) c.25179A>G (p.Lys8393=) c.25035A>G (p.Lys8345=) c.581A>G c.914A>G c.891-1109A>G c.951A>G (p.Lys317=) c.23964A>G (p.Lys7988=) n.1927A>G c.4014A>G (p.Lys1338=) n.8871A>G c.3117A>G (p.Lys1039=) n.8763A>G n.1793A>G n.4201A>G n.2016A>G c.1644A>G (p.Lys548=) c.25284A>G (p.Lys8428=) c.25272A>G (p.Lys8424=) c.25263A>G (p.Lys8421=) c.25233A>G (p.Lys8411=) c.25269A>G (p.Lys8423=) c.25215A>G (p.Lys8405=) c.25212A>G (p.Lys8404=) c.25200A>G (p.Lys8400=) c.25143A>G (p.Lys8381=) c.25131A>G (p.Lys8377=) c.25128A>G (p.Lys8376=) c.25125A>G (p.Lys8375=) c.25281A>G (p.Lys8427=) c.25119A>G (p.Lys8373=) c.23559A>G (p.Lys7853=) c.23052A>G (p.Lys7684=) c.18519A>G (p.Lys6173=) c.1785A>G (p.Lys595=) c.25257A>G (p.Lys8419=) c.25206A>G (p.Lys8402=) c.25059A>G (p.Lys8353=) | |
| 6 | g.152141270T>G | CA366082169 | SYNE1 | c.1713A>C (p.Lys571Asn) c.25179A>C (p.Lys8393Asn) c.25035A>C (p.Lys8345Asn) c.581A>C c.914A>C c.891-1109A>C c.951A>C (p.Lys317Asn) c.23964A>C (p.Lys7988Asn) n.1927A>C c.4014A>C (p.Lys1338Asn) n.8871A>C c.3117A>C (p.Lys1039Asn) n.8763A>C n.1793A>C n.4201A>C n.2016A>C c.1644A>C (p.Lys548Asn) c.25284A>C (p.Lys8428Asn) c.25272A>C (p.Lys8424Asn) c.25263A>C (p.Lys8421Asn) c.25233A>C (p.Lys8411Asn) c.25269A>C (p.Lys8423Asn) c.25215A>C (p.Lys8405Asn) c.25212A>C (p.Lys8404Asn) c.25200A>C (p.Lys8400Asn) c.25143A>C (p.Lys8381Asn) c.25131A>C (p.Lys8377Asn) c.25128A>C (p.Lys8376Asn) c.25125A>C (p.Lys8375Asn) c.25281A>C (p.Lys8427Asn) c.25119A>C (p.Lys8373Asn) c.23559A>C (p.Lys7853Asn) c.23052A>C (p.Lys7684Asn) c.18519A>C (p.Lys6173Asn) c.1785A>C (p.Lys595Asn) c.25257A>C (p.Lys8419Asn) c.25206A>C (p.Lys8402Asn) c.25059A>C (p.Lys8353Asn) | |
| 6 | g.152141271T>A | CA366082174 | SYNE1 | c.1712A>T (p.Lys571Ile) c.25178A>T (p.Lys8393Ile) c.25034A>T (p.Lys8345Ile) c.580A>T c.913A>T c.891-1110A>T c.950A>T (p.Lys317Ile) c.23963A>T (p.Lys7988Ile) n.1926A>T c.4013A>T (p.Lys1338Ile) n.8870A>T c.3116A>T (p.Lys1039Ile) n.8762A>T n.1792A>T n.4200A>T n.2015A>T c.1643A>T (p.Lys548Ile) c.25283A>T (p.Lys8428Ile) c.25271A>T (p.Lys8424Ile) c.25262A>T (p.Lys8421Ile) c.25232A>T (p.Lys8411Ile) c.25268A>T (p.Lys8423Ile) c.25214A>T (p.Lys8405Ile) c.25211A>T (p.Lys8404Ile) c.25199A>T (p.Lys8400Ile) c.25142A>T (p.Lys8381Ile) c.25130A>T (p.Lys8377Ile) c.25127A>T (p.Lys8376Ile) c.25124A>T (p.Lys8375Ile) c.25280A>T (p.Lys8427Ile) c.25118A>T (p.Lys8373Ile) c.23558A>T (p.Lys7853Ile) c.23051A>T (p.Lys7684Ile) c.18518A>T (p.Lys6173Ile) c.1784A>T (p.Lys595Ile) c.25256A>T (p.Lys8419Ile) c.25205A>T (p.Lys8402Ile) c.25058A>T (p.Lys8353Ile) | |
| 6 | g.152141271T>C | CA366082170 | SYNE1 | c.1712A>G (p.Lys571Arg) c.25178A>G (p.Lys8393Arg) c.25034A>G (p.Lys8345Arg) c.580A>G c.913A>G c.891-1110A>G c.950A>G (p.Lys317Arg) c.23963A>G (p.Lys7988Arg) n.1926A>G c.4013A>G (p.Lys1338Arg) n.8870A>G c.3116A>G (p.Lys1039Arg) n.8762A>G n.1792A>G n.4200A>G n.2015A>G c.1643A>G (p.Lys548Arg) c.25283A>G (p.Lys8428Arg) c.25271A>G (p.Lys8424Arg) c.25262A>G (p.Lys8421Arg) c.25232A>G (p.Lys8411Arg) c.25268A>G (p.Lys8423Arg) c.25214A>G (p.Lys8405Arg) c.25211A>G (p.Lys8404Arg) c.25199A>G (p.Lys8400Arg) c.25142A>G (p.Lys8381Arg) c.25130A>G (p.Lys8377Arg) c.25127A>G (p.Lys8376Arg) c.25124A>G (p.Lys8375Arg) c.25280A>G (p.Lys8427Arg) c.25118A>G (p.Lys8373Arg) c.23558A>G (p.Lys7853Arg) c.23051A>G (p.Lys7684Arg) c.18518A>G (p.Lys6173Arg) c.1784A>G (p.Lys595Arg) c.25256A>G (p.Lys8419Arg) c.25205A>G (p.Lys8402Arg) c.25058A>G (p.Lys8353Arg) | |
| 6 | g.152141271T>G | CA366082172 | SYNE1 | c.1712A>C (p.Lys571Thr) c.25178A>C (p.Lys8393Thr) c.25034A>C (p.Lys8345Thr) c.580A>C c.913A>C c.891-1110A>C c.950A>C (p.Lys317Thr) c.23963A>C (p.Lys7988Thr) n.1926A>C c.4013A>C (p.Lys1338Thr) n.8870A>C c.3116A>C (p.Lys1039Thr) n.8762A>C n.1792A>C n.4200A>C n.2015A>C c.1643A>C (p.Lys548Thr) c.25283A>C (p.Lys8428Thr) c.25271A>C (p.Lys8424Thr) c.25262A>C (p.Lys8421Thr) c.25232A>C (p.Lys8411Thr) c.25268A>C (p.Lys8423Thr) c.25214A>C (p.Lys8405Thr) c.25211A>C (p.Lys8404Thr) c.25199A>C (p.Lys8400Thr) c.25142A>C (p.Lys8381Thr) c.25130A>C (p.Lys8377Thr) c.25127A>C (p.Lys8376Thr) c.25124A>C (p.Lys8375Thr) c.25280A>C (p.Lys8427Thr) c.25118A>C (p.Lys8373Thr) c.23558A>C (p.Lys7853Thr) c.23051A>C (p.Lys7684Thr) c.18518A>C (p.Lys6173Thr) c.1784A>C (p.Lys595Thr) c.25256A>C (p.Lys8419Thr) c.25205A>C (p.Lys8402Thr) c.25058A>C (p.Lys8353Thr) | |
| 6 | g.152141272T>A | CA366082176 | SYNE1 | c.1711A>T (p.Lys571Ter) c.25177A>T (p.Lys8393Ter) c.25033A>T (p.Lys8345Ter) c.579A>T c.912A>T c.891-1111A>T c.949A>T (p.Lys317Ter) c.23962A>T (p.Lys7988Ter) n.1925A>T c.4012A>T (p.Lys1338Ter) n.8869A>T c.3115A>T (p.Lys1039Ter) n.8761A>T n.1791A>T n.4199A>T n.2014A>T c.1642A>T (p.Lys548Ter) c.25282A>T (p.Lys8428Ter) c.25270A>T (p.Lys8424Ter) c.25261A>T (p.Lys8421Ter) c.25231A>T (p.Lys8411Ter) c.25267A>T (p.Lys8423Ter) c.25213A>T (p.Lys8405Ter) c.25210A>T (p.Lys8404Ter) c.25198A>T (p.Lys8400Ter) c.25141A>T (p.Lys8381Ter) c.25129A>T (p.Lys8377Ter) c.25126A>T (p.Lys8376Ter) c.25123A>T (p.Lys8375Ter) c.25279A>T (p.Lys8427Ter) c.25117A>T (p.Lys8373Ter) c.23557A>T (p.Lys7853Ter) c.23050A>T (p.Lys7684Ter) c.18517A>T (p.Lys6173Ter) c.1783A>T (p.Lys595Ter) c.25255A>T (p.Lys8419Ter) c.25204A>T (p.Lys8402Ter) c.25057A>T (p.Lys8353Ter) | |
| 6 | g.152141272T>C | CA366082179 | SYNE1 | c.1711A>G (p.Lys571Glu) c.25177A>G (p.Lys8393Glu) c.25033A>G (p.Lys8345Glu) c.579A>G c.912A>G c.891-1111A>G c.949A>G (p.Lys317Glu) c.23962A>G (p.Lys7988Glu) n.1925A>G c.4012A>G (p.Lys1338Glu) n.8869A>G c.3115A>G (p.Lys1039Glu) n.8761A>G n.1791A>G n.4199A>G n.2014A>G c.1642A>G (p.Lys548Glu) c.25282A>G (p.Lys8428Glu) c.25270A>G (p.Lys8424Glu) c.25261A>G (p.Lys8421Glu) c.25231A>G (p.Lys8411Glu) c.25267A>G (p.Lys8423Glu) c.25213A>G (p.Lys8405Glu) c.25210A>G (p.Lys8404Glu) c.25198A>G (p.Lys8400Glu) c.25141A>G (p.Lys8381Glu) c.25129A>G (p.Lys8377Glu) c.25126A>G (p.Lys8376Glu) c.25123A>G (p.Lys8375Glu) c.25279A>G (p.Lys8427Glu) c.25117A>G (p.Lys8373Glu) c.23557A>G (p.Lys7853Glu) c.23050A>G (p.Lys7684Glu) c.18517A>G (p.Lys6173Glu) c.1783A>G (p.Lys595Glu) c.25255A>G (p.Lys8419Glu) c.25204A>G (p.Lys8402Glu) c.25057A>G (p.Lys8353Glu) | |
| 6 | g.152141272T>G | CA366082181 | SYNE1 | c.1711A>C (p.Lys571Gln) c.25177A>C (p.Lys8393Gln) c.25033A>C (p.Lys8345Gln) c.579A>C c.912A>C c.891-1111A>C c.949A>C (p.Lys317Gln) c.23962A>C (p.Lys7988Gln) n.1925A>C c.4012A>C (p.Lys1338Gln) n.8869A>C c.3115A>C (p.Lys1039Gln) n.8761A>C n.1791A>C n.4199A>C n.2014A>C c.1642A>C (p.Lys548Gln) c.25282A>C (p.Lys8428Gln) c.25270A>C (p.Lys8424Gln) c.25261A>C (p.Lys8421Gln) c.25231A>C (p.Lys8411Gln) c.25267A>C (p.Lys8423Gln) c.25213A>C (p.Lys8405Gln) c.25210A>C (p.Lys8404Gln) c.25198A>C (p.Lys8400Gln) c.25141A>C (p.Lys8381Gln) c.25129A>C (p.Lys8377Gln) c.25126A>C (p.Lys8376Gln) c.25123A>C (p.Lys8375Gln) c.25279A>C (p.Lys8427Gln) c.25117A>C (p.Lys8373Gln) c.23557A>C (p.Lys7853Gln) c.23050A>C (p.Lys7684Gln) c.18517A>C (p.Lys6173Gln) c.1783A>C (p.Lys595Gln) c.25255A>C (p.Lys8419Gln) c.25204A>C (p.Lys8402Gln) c.25057A>C (p.Lys8353Gln) | |
| 6 | g.152141273G>A | CA452747112 | SYNE1 | c.1710C>T (p.His570=) c.25176C>T (p.His8392=) c.25032C>T (p.His8344=) c.578C>T c.911C>T c.891-1112C>T c.948C>T (p.His316=) c.23961C>T (p.His7987=) n.1924C>T c.4011C>T (p.His1337=) n.8868C>T c.3114C>T (p.His1038=) n.8760C>T n.1790C>T n.4198C>T n.2013C>T c.1641C>T (p.His547=) c.25281C>T (p.His8427=) c.25269C>T (p.His8423=) c.25260C>T (p.His8420=) c.25230C>T (p.His8410=) c.25266C>T (p.His8422=) c.25212C>T (p.His8404=) c.25209C>T (p.His8403=) c.25197C>T (p.His8399=) c.25140C>T (p.His8380=) c.25128C>T (p.His8376=) c.25125C>T (p.His8375=) c.25122C>T (p.His8374=) c.25278C>T (p.His8426=) c.25116C>T (p.His8372=) c.23556C>T (p.His7852=) c.23049C>T (p.His7683=) c.18516C>T (p.His6172=) c.1782C>T (p.His594=) c.25254C>T (p.His8418=) c.25203C>T (p.His8401=) c.25056C>T (p.His8352=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152141273G>C | CA366082182 | SYNE1 | c.1710C>G (p.His570Gln) c.25176C>G (p.His8392Gln) c.25032C>G (p.His8344Gln) c.578C>G c.911C>G c.891-1112C>G c.948C>G (p.His316Gln) c.23961C>G (p.His7987Gln) n.1924C>G c.4011C>G (p.His1337Gln) n.8868C>G c.3114C>G (p.His1038Gln) n.8760C>G n.1790C>G n.4198C>G n.2013C>G c.1641C>G (p.His547Gln) c.25281C>G (p.His8427Gln) c.25269C>G (p.His8423Gln) c.25260C>G (p.His8420Gln) c.25230C>G (p.His8410Gln) c.25266C>G (p.His8422Gln) c.25212C>G (p.His8404Gln) c.25209C>G (p.His8403Gln) c.25197C>G (p.His8399Gln) c.25140C>G (p.His8380Gln) c.25128C>G (p.His8376Gln) c.25125C>G (p.His8375Gln) c.25122C>G (p.His8374Gln) c.25278C>G (p.His8426Gln) c.25116C>G (p.His8372Gln) c.23556C>G (p.His7852Gln) c.23049C>G (p.His7683Gln) c.18516C>G (p.His6172Gln) c.1782C>G (p.His594Gln) c.25254C>G (p.His8418Gln) c.25203C>G (p.His8401Gln) c.25056C>G (p.His8352Gln) | |
| 6 | g.152141273G= | CA1673207685 | SYNE1 | c.1710C= (p.His570=) c.25176C= (p.His8392=) c.25032C= (p.His8344=) c.578C= c.911C= c.891-1112C= c.948C= (p.His316=) c.23961C= (p.His7987=) n.1924C= c.4011C= (p.His1337=) n.8868C= c.3114C= (p.His1038=) n.8760C= n.1790C= n.4198C= n.2013C= c.1641C= (p.His547=) c.25281C= (p.His8427=) c.25269C= (p.His8423=) c.25260C= (p.His8420=) c.25230C= (p.His8410=) c.25266C= (p.His8422=) c.25212C= (p.His8404=) c.25209C= (p.His8403=) c.25197C= (p.His8399=) c.25140C= (p.His8380=) c.25128C= (p.His8376=) c.25125C= (p.His8375=) c.25122C= (p.His8374=) c.25278C= (p.His8426=) c.25116C= (p.His8372=) c.23556C= (p.His7852=) c.23049C= (p.His7683=) c.18516C= (p.His6172=) c.1782C= (p.His594=) c.25254C= (p.His8418=) c.25203C= (p.His8401=) c.25056C= (p.His8352=) | |
| 6 | g.152141273G>T | CA366082183 | SYNE1 | c.1710C>A (p.His570Gln) c.25176C>A (p.His8392Gln) c.25032C>A (p.His8344Gln) c.578C>A c.911C>A c.891-1112C>A c.948C>A (p.His316Gln) c.23961C>A (p.His7987Gln) n.1924C>A c.4011C>A (p.His1337Gln) n.8868C>A c.3114C>A (p.His1038Gln) n.8760C>A n.1790C>A n.4198C>A n.2013C>A c.1641C>A (p.His547Gln) c.25281C>A (p.His8427Gln) c.25269C>A (p.His8423Gln) c.25260C>A (p.His8420Gln) c.25230C>A (p.His8410Gln) c.25266C>A (p.His8422Gln) c.25212C>A (p.His8404Gln) c.25209C>A (p.His8403Gln) c.25197C>A (p.His8399Gln) c.25140C>A (p.His8380Gln) c.25128C>A (p.His8376Gln) c.25125C>A (p.His8375Gln) c.25122C>A (p.His8374Gln) c.25278C>A (p.His8426Gln) c.25116C>A (p.His8372Gln) c.23556C>A (p.His7852Gln) c.23049C>A (p.His7683Gln) c.18516C>A (p.His6172Gln) c.1782C>A (p.His594Gln) c.25254C>A (p.His8418Gln) c.25203C>A (p.His8401Gln) c.25056C>A (p.His8352Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141274T>A | CA366082184 | SYNE1 | c.1709A>T (p.His570Leu) c.25175A>T (p.His8392Leu) c.25031A>T (p.His8344Leu) c.577A>T c.910A>T c.891-1113A>T c.947A>T (p.His316Leu) c.23960A>T (p.His7987Leu) n.1923A>T c.4010A>T (p.His1337Leu) n.8867A>T c.3113A>T (p.His1038Leu) n.8759A>T n.1789A>T n.4197A>T n.2012A>T c.1640A>T (p.His547Leu) c.25280A>T (p.His8427Leu) c.25268A>T (p.His8423Leu) c.25259A>T (p.His8420Leu) c.25229A>T (p.His8410Leu) c.25265A>T (p.His8422Leu) c.25211A>T (p.His8404Leu) c.25208A>T (p.His8403Leu) c.25196A>T (p.His8399Leu) c.25139A>T (p.His8380Leu) c.25127A>T (p.His8376Leu) c.25124A>T (p.His8375Leu) c.25121A>T (p.His8374Leu) c.25277A>T (p.His8426Leu) c.25115A>T (p.His8372Leu) c.23555A>T (p.His7852Leu) c.23048A>T (p.His7683Leu) c.18515A>T (p.His6172Leu) c.1781A>T (p.His594Leu) c.25253A>T (p.His8418Leu) c.25202A>T (p.His8401Leu) c.25055A>T (p.His8352Leu) | |
| 6 | g.152141274T>C | CA366082188 | SYNE1 | c.1709A>G (p.His570Arg) c.25175A>G (p.His8392Arg) c.25031A>G (p.His8344Arg) c.577A>G c.910A>G c.891-1113A>G c.947A>G (p.His316Arg) c.23960A>G (p.His7987Arg) n.1923A>G c.4010A>G (p.His1337Arg) n.8867A>G c.3113A>G (p.His1038Arg) n.8759A>G n.1789A>G n.4197A>G n.2012A>G c.1640A>G (p.His547Arg) c.25280A>G (p.His8427Arg) c.25268A>G (p.His8423Arg) c.25259A>G (p.His8420Arg) c.25229A>G (p.His8410Arg) c.25265A>G (p.His8422Arg) c.25211A>G (p.His8404Arg) c.25208A>G (p.His8403Arg) c.25196A>G (p.His8399Arg) c.25139A>G (p.His8380Arg) c.25127A>G (p.His8376Arg) c.25124A>G (p.His8375Arg) c.25121A>G (p.His8374Arg) c.25277A>G (p.His8426Arg) c.25115A>G (p.His8372Arg) c.23555A>G (p.His7852Arg) c.23048A>G (p.His7683Arg) c.18515A>G (p.His6172Arg) c.1781A>G (p.His594Arg) c.25253A>G (p.His8418Arg) c.25202A>G (p.His8401Arg) c.25055A>G (p.His8352Arg) | |
| 6 | g.152141274T>G | CA366082186 | SYNE1 | c.1709A>C (p.His570Pro) c.25175A>C (p.His8392Pro) c.25031A>C (p.His8344Pro) c.577A>C c.910A>C c.891-1113A>C c.947A>C (p.His316Pro) c.23960A>C (p.His7987Pro) n.1923A>C c.4010A>C (p.His1337Pro) n.8867A>C c.3113A>C (p.His1038Pro) n.8759A>C n.1789A>C n.4197A>C n.2012A>C c.1640A>C (p.His547Pro) c.25280A>C (p.His8427Pro) c.25268A>C (p.His8423Pro) c.25259A>C (p.His8420Pro) c.25229A>C (p.His8410Pro) c.25265A>C (p.His8422Pro) c.25211A>C (p.His8404Pro) c.25208A>C (p.His8403Pro) c.25196A>C (p.His8399Pro) c.25139A>C (p.His8380Pro) c.25127A>C (p.His8376Pro) c.25124A>C (p.His8375Pro) c.25121A>C (p.His8374Pro) c.25277A>C (p.His8426Pro) c.25115A>C (p.His8372Pro) c.23555A>C (p.His7852Pro) c.23048A>C (p.His7683Pro) c.18515A>C (p.His6172Pro) c.1781A>C (p.His594Pro) c.25253A>C (p.His8418Pro) c.25202A>C (p.His8401Pro) c.25055A>C (p.His8352Pro) | |
| 6 | g.152141275G>A | CA366082190 | SYNE1 | c.1708C>T (p.His570Tyr) c.25174C>T (p.His8392Tyr) c.25030C>T (p.His8344Tyr) c.576C>T c.909C>T c.891-1114C>T c.946C>T (p.His316Tyr) c.23959C>T (p.His7987Tyr) n.1922C>T c.4009C>T (p.His1337Tyr) n.8866C>T c.3112C>T (p.His1038Tyr) n.8758C>T n.1788C>T n.4196C>T n.2011C>T c.1639C>T (p.His547Tyr) c.25279C>T (p.His8427Tyr) c.25267C>T (p.His8423Tyr) c.25258C>T (p.His8420Tyr) c.25228C>T (p.His8410Tyr) c.25264C>T (p.His8422Tyr) c.25210C>T (p.His8404Tyr) c.25207C>T (p.His8403Tyr) c.25195C>T (p.His8399Tyr) c.25138C>T (p.His8380Tyr) c.25126C>T (p.His8376Tyr) c.25123C>T (p.His8375Tyr) c.25120C>T (p.His8374Tyr) c.25276C>T (p.His8426Tyr) c.25114C>T (p.His8372Tyr) c.23554C>T (p.His7852Tyr) c.23047C>T (p.His7683Tyr) c.18514C>T (p.His6172Tyr) c.1780C>T (p.His594Tyr) c.25252C>T (p.His8418Tyr) c.25201C>T (p.His8401Tyr) c.25054C>T (p.His8352Tyr) | |
| 6 | g.152141275G>C | CA366082192 | SYNE1 | c.1708C>G (p.His570Asp) c.25174C>G (p.His8392Asp) c.25030C>G (p.His8344Asp) c.576C>G c.909C>G c.891-1114C>G c.946C>G (p.His316Asp) c.23959C>G (p.His7987Asp) n.1922C>G c.4009C>G (p.His1337Asp) n.8866C>G c.3112C>G (p.His1038Asp) n.8758C>G n.1788C>G n.4196C>G n.2011C>G c.1639C>G (p.His547Asp) c.25279C>G (p.His8427Asp) c.25267C>G (p.His8423Asp) c.25258C>G (p.His8420Asp) c.25228C>G (p.His8410Asp) c.25264C>G (p.His8422Asp) c.25210C>G (p.His8404Asp) c.25207C>G (p.His8403Asp) c.25195C>G (p.His8399Asp) c.25138C>G (p.His8380Asp) c.25126C>G (p.His8376Asp) c.25123C>G (p.His8375Asp) c.25120C>G (p.His8374Asp) c.25276C>G (p.His8426Asp) c.25114C>G (p.His8372Asp) c.23554C>G (p.His7852Asp) c.23047C>G (p.His7683Asp) c.18514C>G (p.His6172Asp) c.1780C>G (p.His594Asp) c.25252C>G (p.His8418Asp) c.25201C>G (p.His8401Asp) c.25054C>G (p.His8352Asp) | |
| 6 | g.152141275G>T | CA366082194 | SYNE1 | c.1708C>A (p.His570Asn) c.25174C>A (p.His8392Asn) c.25030C>A (p.His8344Asn) c.576C>A c.909C>A c.891-1114C>A c.946C>A (p.His316Asn) c.23959C>A (p.His7987Asn) n.1922C>A c.4009C>A (p.His1337Asn) n.8866C>A c.3112C>A (p.His1038Asn) n.8758C>A n.1788C>A n.4196C>A n.2011C>A c.1639C>A (p.His547Asn) c.25279C>A (p.His8427Asn) c.25267C>A (p.His8423Asn) c.25258C>A (p.His8420Asn) c.25228C>A (p.His8410Asn) c.25264C>A (p.His8422Asn) c.25210C>A (p.His8404Asn) c.25207C>A (p.His8403Asn) c.25195C>A (p.His8399Asn) c.25138C>A (p.His8380Asn) c.25126C>A (p.His8376Asn) c.25123C>A (p.His8375Asn) c.25120C>A (p.His8374Asn) c.25276C>A (p.His8426Asn) c.25114C>A (p.His8372Asn) c.23554C>A (p.His7852Asn) c.23047C>A (p.His7683Asn) c.18514C>A (p.His6172Asn) c.1780C>A (p.His594Asn) c.25252C>A (p.His8418Asn) c.25201C>A (p.His8401Asn) c.25054C>A (p.His8352Asn) | |
| 6 | g.152141276C>A | CA366082196 | SYNE1 | c.1707G>T (p.Glu569Asp) c.25173G>T (p.Glu8391Asp) c.25029G>T (p.Glu8343Asp) c.575G>T c.908G>T c.891-1115G>T c.945G>T (p.Glu315Asp) c.23958G>T (p.Glu7986Asp) n.1921G>T c.4008G>T (p.Glu1336Asp) n.8865G>T c.3111G>T (p.Glu1037Asp) n.8757G>T n.1787G>T n.4195G>T n.2010G>T c.1638G>T (p.Glu546Asp) c.25278G>T (p.Glu8426Asp) c.25266G>T (p.Glu8422Asp) c.25257G>T (p.Glu8419Asp) c.25227G>T (p.Glu8409Asp) c.25263G>T (p.Glu8421Asp) c.25209G>T (p.Glu8403Asp) c.25206G>T (p.Glu8402Asp) c.25194G>T (p.Glu8398Asp) c.25137G>T (p.Glu8379Asp) c.25125G>T (p.Glu8375Asp) c.25122G>T (p.Glu8374Asp) c.25119G>T (p.Glu8373Asp) c.25275G>T (p.Glu8425Asp) c.25113G>T (p.Glu8371Asp) c.23553G>T (p.Glu7851Asp) c.23046G>T (p.Glu7682Asp) c.18513G>T (p.Glu6171Asp) c.1779G>T (p.Glu593Asp) c.25251G>T (p.Glu8417Asp) c.25200G>T (p.Glu8400Asp) c.25053G>T (p.Glu8351Asp) | |
| 6 | g.152141276C>G | CA366082198 | SYNE1 | c.1707G>C (p.Glu569Asp) c.25173G>C (p.Glu8391Asp) c.25029G>C (p.Glu8343Asp) c.575G>C c.908G>C c.891-1115G>C c.945G>C (p.Glu315Asp) c.23958G>C (p.Glu7986Asp) n.1921G>C c.4008G>C (p.Glu1336Asp) n.8865G>C c.3111G>C (p.Glu1037Asp) n.8757G>C n.1787G>C n.4195G>C n.2010G>C c.1638G>C (p.Glu546Asp) c.25278G>C (p.Glu8426Asp) c.25266G>C (p.Glu8422Asp) c.25257G>C (p.Glu8419Asp) c.25227G>C (p.Glu8409Asp) c.25263G>C (p.Glu8421Asp) c.25209G>C (p.Glu8403Asp) c.25206G>C (p.Glu8402Asp) c.25194G>C (p.Glu8398Asp) c.25137G>C (p.Glu8379Asp) c.25125G>C (p.Glu8375Asp) c.25122G>C (p.Glu8374Asp) c.25119G>C (p.Glu8373Asp) c.25275G>C (p.Glu8425Asp) c.25113G>C (p.Glu8371Asp) c.23553G>C (p.Glu7851Asp) c.23046G>C (p.Glu7682Asp) c.18513G>C (p.Glu6171Asp) c.1779G>C (p.Glu593Asp) c.25251G>C (p.Glu8417Asp) c.25200G>C (p.Glu8400Asp) c.25053G>C (p.Glu8351Asp) | |
| 6 | g.152141276C>T | CA452747113 | SYNE1 | c.1707G>A (p.Glu569=) c.25173G>A (p.Glu8391=) c.25029G>A (p.Glu8343=) c.575G>A c.908G>A c.891-1115G>A c.945G>A (p.Glu315=) c.23958G>A (p.Glu7986=) n.1921G>A c.4008G>A (p.Glu1336=) n.8865G>A c.3111G>A (p.Glu1037=) n.8757G>A n.1787G>A n.4195G>A n.2010G>A c.1638G>A (p.Glu546=) c.25278G>A (p.Glu8426=) c.25266G>A (p.Glu8422=) c.25257G>A (p.Glu8419=) c.25227G>A (p.Glu8409=) c.25263G>A (p.Glu8421=) c.25209G>A (p.Glu8403=) c.25206G>A (p.Glu8402=) c.25194G>A (p.Glu8398=) c.25137G>A (p.Glu8379=) c.25125G>A (p.Glu8375=) c.25122G>A (p.Glu8374=) c.25119G>A (p.Glu8373=) c.25275G>A (p.Glu8425=) c.25113G>A (p.Glu8371=) c.23553G>A (p.Glu7851=) c.23046G>A (p.Glu7682=) c.18513G>A (p.Glu6171=) c.1779G>A (p.Glu593=) c.25251G>A (p.Glu8417=) c.25200G>A (p.Glu8400=) c.25053G>A (p.Glu8351=) | |
| 6 | g.152141277T>A | CA366082201 | SYNE1 | c.1706A>T (p.Glu569Val) c.25172A>T (p.Glu8391Val) c.25028A>T (p.Glu8343Val) c.574A>T c.907A>T c.891-1116A>T c.944A>T (p.Glu315Val) c.23957A>T (p.Glu7986Val) n.1920A>T c.4007A>T (p.Glu1336Val) n.8864A>T c.3110A>T (p.Glu1037Val) n.8756A>T n.1786A>T n.4194A>T n.2009A>T c.1637A>T (p.Glu546Val) c.25277A>T (p.Glu8426Val) c.25265A>T (p.Glu8422Val) c.25256A>T (p.Glu8419Val) c.25226A>T (p.Glu8409Val) c.25262A>T (p.Glu8421Val) c.25208A>T (p.Glu8403Val) c.25205A>T (p.Glu8402Val) c.25193A>T (p.Glu8398Val) c.25136A>T (p.Glu8379Val) c.25124A>T (p.Glu8375Val) c.25121A>T (p.Glu8374Val) c.25118A>T (p.Glu8373Val) c.25274A>T (p.Glu8425Val) c.25112A>T (p.Glu8371Val) c.23552A>T (p.Glu7851Val) c.23045A>T (p.Glu7682Val) c.18512A>T (p.Glu6171Val) c.1778A>T (p.Glu593Val) c.25250A>T (p.Glu8417Val) c.25199A>T (p.Glu8400Val) c.25052A>T (p.Glu8351Val) | |
| 6 | g.152141277T>C | CA366082202 | SYNE1 | c.1706A>G (p.Glu569Gly) c.25172A>G (p.Glu8391Gly) c.25028A>G (p.Glu8343Gly) c.574A>G c.907A>G c.891-1116A>G c.944A>G (p.Glu315Gly) c.23957A>G (p.Glu7986Gly) n.1920A>G c.4007A>G (p.Glu1336Gly) n.8864A>G c.3110A>G (p.Glu1037Gly) n.8756A>G n.1786A>G n.4194A>G n.2009A>G c.1637A>G (p.Glu546Gly) c.25277A>G (p.Glu8426Gly) c.25265A>G (p.Glu8422Gly) c.25256A>G (p.Glu8419Gly) c.25226A>G (p.Glu8409Gly) c.25262A>G (p.Glu8421Gly) c.25208A>G (p.Glu8403Gly) c.25205A>G (p.Glu8402Gly) c.25193A>G (p.Glu8398Gly) c.25136A>G (p.Glu8379Gly) c.25124A>G (p.Glu8375Gly) c.25121A>G (p.Glu8374Gly) c.25118A>G (p.Glu8373Gly) c.25274A>G (p.Glu8425Gly) c.25112A>G (p.Glu8371Gly) c.23552A>G (p.Glu7851Gly) c.23045A>G (p.Glu7682Gly) c.18512A>G (p.Glu6171Gly) c.1778A>G (p.Glu593Gly) c.25250A>G (p.Glu8417Gly) c.25199A>G (p.Glu8400Gly) c.25052A>G (p.Glu8351Gly) | |
| 6 | g.152141277T>G | CA366082204 | SYNE1 | c.1706A>C (p.Glu569Ala) c.25172A>C (p.Glu8391Ala) c.25028A>C (p.Glu8343Ala) c.574A>C c.907A>C c.891-1116A>C c.944A>C (p.Glu315Ala) c.23957A>C (p.Glu7986Ala) n.1920A>C c.4007A>C (p.Glu1336Ala) n.8864A>C c.3110A>C (p.Glu1037Ala) n.8756A>C n.1786A>C n.4194A>C n.2009A>C c.1637A>C (p.Glu546Ala) c.25277A>C (p.Glu8426Ala) c.25265A>C (p.Glu8422Ala) c.25256A>C (p.Glu8419Ala) c.25226A>C (p.Glu8409Ala) c.25262A>C (p.Glu8421Ala) c.25208A>C (p.Glu8403Ala) c.25205A>C (p.Glu8402Ala) c.25193A>C (p.Glu8398Ala) c.25136A>C (p.Glu8379Ala) c.25124A>C (p.Glu8375Ala) c.25121A>C (p.Glu8374Ala) c.25118A>C (p.Glu8373Ala) c.25274A>C (p.Glu8425Ala) c.25112A>C (p.Glu8371Ala) c.23552A>C (p.Glu7851Ala) c.23045A>C (p.Glu7682Ala) c.18512A>C (p.Glu6171Ala) c.1778A>C (p.Glu593Ala) c.25250A>C (p.Glu8417Ala) c.25199A>C (p.Glu8400Ala) c.25052A>C (p.Glu8351Ala) | |
| 6 | g.152141278C>A | CA366082207 | SYNE1 | c.1705G>T (p.Glu569Ter) c.25171G>T (p.Glu8391Ter) c.25027G>T (p.Glu8343Ter) c.573G>T c.906G>T c.891-1117G>T c.943G>T (p.Glu315Ter) c.23956G>T (p.Glu7986Ter) n.1919G>T c.4006G>T (p.Glu1336Ter) n.8863G>T c.3109G>T (p.Glu1037Ter) n.8755G>T n.1785G>T n.4193G>T n.2008G>T c.1636G>T (p.Glu546Ter) c.25276G>T (p.Glu8426Ter) c.25264G>T (p.Glu8422Ter) c.25255G>T (p.Glu8419Ter) c.25225G>T (p.Glu8409Ter) c.25261G>T (p.Glu8421Ter) c.25207G>T (p.Glu8403Ter) c.25204G>T (p.Glu8402Ter) c.25192G>T (p.Glu8398Ter) c.25135G>T (p.Glu8379Ter) c.25123G>T (p.Glu8375Ter) c.25120G>T (p.Glu8374Ter) c.25117G>T (p.Glu8373Ter) c.25273G>T (p.Glu8425Ter) c.25111G>T (p.Glu8371Ter) c.23551G>T (p.Glu7851Ter) c.23044G>T (p.Glu7682Ter) c.18511G>T (p.Glu6171Ter) c.1777G>T (p.Glu593Ter) c.25249G>T (p.Glu8417Ter) c.25198G>T (p.Glu8400Ter) c.25051G>T (p.Glu8351Ter) | |
| 6 | g.152141278C= | CA1673207692 | SYNE1 | c.1705G= (p.Glu569=) c.25171G= (p.Glu8391=) c.25027G= (p.Glu8343=) c.573G= c.906G= c.891-1117G= c.943G= (p.Glu315=) c.23956G= (p.Glu7986=) n.1919G= c.4006G= (p.Glu1336=) n.8863G= c.3109G= (p.Glu1037=) n.8755G= n.1785G= n.4193G= n.2008G= c.1636G= (p.Glu546=) c.25276G= (p.Glu8426=) c.25264G= (p.Glu8422=) c.25255G= (p.Glu8419=) c.25225G= (p.Glu8409=) c.25261G= (p.Glu8421=) c.25207G= (p.Glu8403=) c.25204G= (p.Glu8402=) c.25192G= (p.Glu8398=) c.25135G= (p.Glu8379=) c.25123G= (p.Glu8375=) c.25120G= (p.Glu8374=) c.25117G= (p.Glu8373=) c.25273G= (p.Glu8425=) c.25111G= (p.Glu8371=) c.23551G= (p.Glu7851=) c.23044G= (p.Glu7682=) c.18511G= (p.Glu6171=) c.1777G= (p.Glu593=) c.25249G= (p.Glu8417=) c.25198G= (p.Glu8400=) c.25051G= (p.Glu8351=) | |
| 6 | g.152141278C>G | CA4052908 | SYNE1 | c.1705G>C (p.Glu569Gln) c.25171G>C (p.Glu8391Gln) c.25027G>C (p.Glu8343Gln) c.573G>C c.906G>C c.891-1117G>C c.943G>C (p.Glu315Gln) c.23956G>C (p.Glu7986Gln) n.1919G>C c.4006G>C (p.Glu1336Gln) n.8863G>C c.3109G>C (p.Glu1037Gln) n.8755G>C n.1785G>C n.4193G>C n.2008G>C c.1636G>C (p.Glu546Gln) c.25276G>C (p.Glu8426Gln) c.25264G>C (p.Glu8422Gln) c.25255G>C (p.Glu8419Gln) c.25225G>C (p.Glu8409Gln) c.25261G>C (p.Glu8421Gln) c.25207G>C (p.Glu8403Gln) c.25204G>C (p.Glu8402Gln) c.25192G>C (p.Glu8398Gln) c.25135G>C (p.Glu8379Gln) c.25123G>C (p.Glu8375Gln) c.25120G>C (p.Glu8374Gln) c.25117G>C (p.Glu8373Gln) c.25273G>C (p.Glu8425Gln) c.25111G>C (p.Glu8371Gln) c.23551G>C (p.Glu7851Gln) c.23044G>C (p.Glu7682Gln) c.18511G>C (p.Glu6171Gln) c.1777G>C (p.Glu593Gln) c.25249G>C (p.Glu8417Gln) c.25198G>C (p.Glu8400Gln) c.25051G>C (p.Glu8351Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141278C>T | CA4052909 | SYNE1 | c.1705G>A (p.Glu569Lys) c.25171G>A (p.Glu8391Lys) c.25027G>A (p.Glu8343Lys) c.573G>A c.906G>A c.891-1117G>A c.943G>A (p.Glu315Lys) c.23956G>A (p.Glu7986Lys) n.1919G>A c.4006G>A (p.Glu1336Lys) n.8863G>A c.3109G>A (p.Glu1037Lys) n.8755G>A n.1785G>A n.4193G>A n.2008G>A c.1636G>A (p.Glu546Lys) c.25276G>A (p.Glu8426Lys) c.25264G>A (p.Glu8422Lys) c.25255G>A (p.Glu8419Lys) c.25225G>A (p.Glu8409Lys) c.25261G>A (p.Glu8421Lys) c.25207G>A (p.Glu8403Lys) c.25204G>A (p.Glu8402Lys) c.25192G>A (p.Glu8398Lys) c.25135G>A (p.Glu8379Lys) c.25123G>A (p.Glu8375Lys) c.25120G>A (p.Glu8374Lys) c.25117G>A (p.Glu8373Lys) c.25273G>A (p.Glu8425Lys) c.25111G>A (p.Glu8371Lys) c.23551G>A (p.Glu7851Lys) c.23044G>A (p.Glu7682Lys) c.18511G>A (p.Glu6171Lys) c.1777G>A (p.Glu593Lys) c.25249G>A (p.Glu8417Lys) c.25198G>A (p.Glu8400Lys) c.25051G>A (p.Glu8351Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141279C>A | CA452747114 | SYNE1 | c.1704G>T (p.Leu568=) c.25170G>T (p.Leu8390=) c.25026G>T (p.Leu8342=) c.572G>T c.905G>T c.891-1118G>T c.942G>T (p.Leu314=) c.23955G>T (p.Leu7985=) n.1918G>T c.4005G>T (p.Leu1335=) n.8862G>T c.3108G>T (p.Leu1036=) n.8754G>T n.1784G>T n.4192G>T n.2007G>T c.1635G>T (p.Leu545=) c.25275G>T (p.Leu8425=) c.25263G>T (p.Leu8421=) c.25254G>T (p.Leu8418=) c.25224G>T (p.Leu8408=) c.25260G>T (p.Leu8420=) c.25206G>T (p.Leu8402=) c.25203G>T (p.Leu8401=) c.25191G>T (p.Leu8397=) c.25134G>T (p.Leu8378=) c.25122G>T (p.Leu8374=) c.25119G>T (p.Leu8373=) c.25116G>T (p.Leu8372=) c.25272G>T (p.Leu8424=) c.25110G>T (p.Leu8370=) c.23550G>T (p.Leu7850=) c.23043G>T (p.Leu7681=) c.18510G>T (p.Leu6170=) c.1776G>T (p.Leu592=) c.25248G>T (p.Leu8416=) c.25197G>T (p.Leu8399=) c.25050G>T (p.Leu8350=) | |
| 6 | g.152141279C>G | CA452747115 | SYNE1 | c.1704G>C (p.Leu568=) c.25170G>C (p.Leu8390=) c.25026G>C (p.Leu8342=) c.572G>C c.905G>C c.891-1118G>C c.942G>C (p.Leu314=) c.23955G>C (p.Leu7985=) n.1918G>C c.4005G>C (p.Leu1335=) n.8862G>C c.3108G>C (p.Leu1036=) n.8754G>C n.1784G>C n.4192G>C n.2007G>C c.1635G>C (p.Leu545=) c.25275G>C (p.Leu8425=) c.25263G>C (p.Leu8421=) c.25254G>C (p.Leu8418=) c.25224G>C (p.Leu8408=) c.25260G>C (p.Leu8420=) c.25206G>C (p.Leu8402=) c.25203G>C (p.Leu8401=) c.25191G>C (p.Leu8397=) c.25134G>C (p.Leu8378=) c.25122G>C (p.Leu8374=) c.25119G>C (p.Leu8373=) c.25116G>C (p.Leu8372=) c.25272G>C (p.Leu8424=) c.25110G>C (p.Leu8370=) c.23550G>C (p.Leu7850=) c.23043G>C (p.Leu7681=) c.18510G>C (p.Leu6170=) c.1776G>C (p.Leu592=) c.25248G>C (p.Leu8416=) c.25197G>C (p.Leu8399=) c.25050G>C (p.Leu8350=) | |
| 6 | g.152141279C>T | CA452747116 | SYNE1 | c.1704G>A (p.Leu568=) c.25170G>A (p.Leu8390=) c.25026G>A (p.Leu8342=) c.572G>A c.905G>A c.891-1118G>A c.942G>A (p.Leu314=) c.23955G>A (p.Leu7985=) n.1918G>A c.4005G>A (p.Leu1335=) n.8862G>A c.3108G>A (p.Leu1036=) n.8754G>A n.1784G>A n.4192G>A n.2007G>A c.1635G>A (p.Leu545=) c.25275G>A (p.Leu8425=) c.25263G>A (p.Leu8421=) c.25254G>A (p.Leu8418=) c.25224G>A (p.Leu8408=) c.25260G>A (p.Leu8420=) c.25206G>A (p.Leu8402=) c.25203G>A (p.Leu8401=) c.25191G>A (p.Leu8397=) c.25134G>A (p.Leu8378=) c.25122G>A (p.Leu8374=) c.25119G>A (p.Leu8373=) c.25116G>A (p.Leu8372=) c.25272G>A (p.Leu8424=) c.25110G>A (p.Leu8370=) c.23550G>A (p.Leu7850=) c.23043G>A (p.Leu7681=) c.18510G>A (p.Leu6170=) c.1776G>A (p.Leu592=) c.25248G>A (p.Leu8416=) c.25197G>A (p.Leu8399=) c.25050G>A (p.Leu8350=) | |
| 6 | g.152141280A>C | CA366082211 | SYNE1 | c.1703T>G (p.Leu568Arg) c.25169T>G (p.Leu8390Arg) c.25025T>G (p.Leu8342Arg) c.571T>G c.904T>G c.891-1119T>G c.941T>G (p.Leu314Arg) c.23954T>G (p.Leu7985Arg) n.1917T>G c.4004T>G (p.Leu1335Arg) n.8861T>G c.3107T>G (p.Leu1036Arg) n.8753T>G n.1783T>G n.4191T>G n.2006T>G c.1634T>G (p.Leu545Arg) c.25274T>G (p.Leu8425Arg) c.25262T>G (p.Leu8421Arg) c.25253T>G (p.Leu8418Arg) c.25223T>G (p.Leu8408Arg) c.25259T>G (p.Leu8420Arg) c.25205T>G (p.Leu8402Arg) c.25202T>G (p.Leu8401Arg) c.25190T>G (p.Leu8397Arg) c.25133T>G (p.Leu8378Arg) c.25121T>G (p.Leu8374Arg) c.25118T>G (p.Leu8373Arg) c.25115T>G (p.Leu8372Arg) c.25271T>G (p.Leu8424Arg) c.25109T>G (p.Leu8370Arg) c.23549T>G (p.Leu7850Arg) c.23042T>G (p.Leu7681Arg) c.18509T>G (p.Leu6170Arg) c.1775T>G (p.Leu592Arg) c.25247T>G (p.Leu8416Arg) c.25196T>G (p.Leu8399Arg) c.25049T>G (p.Leu8350Arg) | |
| 6 | g.152141280A>G | CA366082212 | SYNE1 | c.1703T>C (p.Leu568Pro) c.25169T>C (p.Leu8390Pro) c.25025T>C (p.Leu8342Pro) c.571T>C c.904T>C c.891-1119T>C c.941T>C (p.Leu314Pro) c.23954T>C (p.Leu7985Pro) n.1917T>C c.4004T>C (p.Leu1335Pro) n.8861T>C c.3107T>C (p.Leu1036Pro) n.8753T>C n.1783T>C n.4191T>C n.2006T>C c.1634T>C (p.Leu545Pro) c.25274T>C (p.Leu8425Pro) c.25262T>C (p.Leu8421Pro) c.25253T>C (p.Leu8418Pro) c.25223T>C (p.Leu8408Pro) c.25259T>C (p.Leu8420Pro) c.25205T>C (p.Leu8402Pro) c.25202T>C (p.Leu8401Pro) c.25190T>C (p.Leu8397Pro) c.25133T>C (p.Leu8378Pro) c.25121T>C (p.Leu8374Pro) c.25118T>C (p.Leu8373Pro) c.25115T>C (p.Leu8372Pro) c.25271T>C (p.Leu8424Pro) c.25109T>C (p.Leu8370Pro) c.23549T>C (p.Leu7850Pro) c.23042T>C (p.Leu7681Pro) c.18509T>C (p.Leu6170Pro) c.1775T>C (p.Leu592Pro) c.25247T>C (p.Leu8416Pro) c.25196T>C (p.Leu8399Pro) c.25049T>C (p.Leu8350Pro) | |
| 6 | g.152141280A>T | CA366082209 | SYNE1 | c.1703T>A (p.Leu568Gln) c.25169T>A (p.Leu8390Gln) c.25025T>A (p.Leu8342Gln) c.571T>A c.904T>A c.891-1119T>A c.941T>A (p.Leu314Gln) c.23954T>A (p.Leu7985Gln) n.1917T>A c.4004T>A (p.Leu1335Gln) n.8861T>A c.3107T>A (p.Leu1036Gln) n.8753T>A n.1783T>A n.4191T>A n.2006T>A c.1634T>A (p.Leu545Gln) c.25274T>A (p.Leu8425Gln) c.25262T>A (p.Leu8421Gln) c.25253T>A (p.Leu8418Gln) c.25223T>A (p.Leu8408Gln) c.25259T>A (p.Leu8420Gln) c.25205T>A (p.Leu8402Gln) c.25202T>A (p.Leu8401Gln) c.25190T>A (p.Leu8397Gln) c.25133T>A (p.Leu8378Gln) c.25121T>A (p.Leu8374Gln) c.25118T>A (p.Leu8373Gln) c.25115T>A (p.Leu8372Gln) c.25271T>A (p.Leu8424Gln) c.25109T>A (p.Leu8370Gln) c.23549T>A (p.Leu7850Gln) c.23042T>A (p.Leu7681Gln) c.18509T>A (p.Leu6170Gln) c.1775T>A (p.Leu592Gln) c.25247T>A (p.Leu8416Gln) c.25196T>A (p.Leu8399Gln) c.25049T>A (p.Leu8350Gln) | |
| 6 | g.152141281G>A | CA452747117 | SYNE1 | c.1702C>T (p.Leu568=) c.25168C>T (p.Leu8390=) c.25024C>T (p.Leu8342=) c.570C>T c.903C>T c.891-1120C>T c.940C>T (p.Leu314=) c.23953C>T (p.Leu7985=) n.1916C>T c.4003C>T (p.Leu1335=) n.8860C>T c.3106C>T (p.Leu1036=) n.8752C>T n.1782C>T n.4190C>T n.2005C>T c.1633C>T (p.Leu545=) c.25273C>T (p.Leu8425=) c.25261C>T (p.Leu8421=) c.25252C>T (p.Leu8418=) c.25222C>T (p.Leu8408=) c.25258C>T (p.Leu8420=) c.25204C>T (p.Leu8402=) c.25201C>T (p.Leu8401=) c.25189C>T (p.Leu8397=) c.25132C>T (p.Leu8378=) c.25120C>T (p.Leu8374=) c.25117C>T (p.Leu8373=) c.25114C>T (p.Leu8372=) c.25270C>T (p.Leu8424=) c.25108C>T (p.Leu8370=) c.23548C>T (p.Leu7850=) c.23041C>T (p.Leu7681=) c.18508C>T (p.Leu6170=) c.1774C>T (p.Leu592=) c.25246C>T (p.Leu8416=) c.25195C>T (p.Leu8399=) c.25048C>T (p.Leu8350=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152141281G>C | CA366082215 | SYNE1 | c.1702C>G (p.Leu568Val) c.25168C>G (p.Leu8390Val) c.25024C>G (p.Leu8342Val) c.570C>G c.903C>G c.891-1120C>G c.940C>G (p.Leu314Val) c.23953C>G (p.Leu7985Val) n.1916C>G c.4003C>G (p.Leu1335Val) n.8860C>G c.3106C>G (p.Leu1036Val) n.8752C>G n.1782C>G n.4190C>G n.2005C>G c.1633C>G (p.Leu545Val) c.25273C>G (p.Leu8425Val) c.25261C>G (p.Leu8421Val) c.25252C>G (p.Leu8418Val) c.25222C>G (p.Leu8408Val) c.25258C>G (p.Leu8420Val) c.25204C>G (p.Leu8402Val) c.25201C>G (p.Leu8401Val) c.25189C>G (p.Leu8397Val) c.25132C>G (p.Leu8378Val) c.25120C>G (p.Leu8374Val) c.25117C>G (p.Leu8373Val) c.25114C>G (p.Leu8372Val) c.25270C>G (p.Leu8424Val) c.25108C>G (p.Leu8370Val) c.23548C>G (p.Leu7850Val) c.23041C>G (p.Leu7681Val) c.18508C>G (p.Leu6170Val) c.1774C>G (p.Leu592Val) c.25246C>G (p.Leu8416Val) c.25195C>G (p.Leu8399Val) c.25048C>G (p.Leu8350Val) | |
| 6 | g.152141281G= | CA1673207694 | SYNE1 | c.1702C= (p.Leu568=) c.25168C= (p.Leu8390=) c.25024C= (p.Leu8342=) c.570C= c.903C= c.891-1120C= c.940C= (p.Leu314=) c.23953C= (p.Leu7985=) n.1916C= c.4003C= (p.Leu1335=) n.8860C= c.3106C= (p.Leu1036=) n.8752C= n.1782C= n.4190C= n.2005C= c.1633C= (p.Leu545=) c.25273C= (p.Leu8425=) c.25261C= (p.Leu8421=) c.25252C= (p.Leu8418=) c.25222C= (p.Leu8408=) c.25258C= (p.Leu8420=) c.25204C= (p.Leu8402=) c.25201C= (p.Leu8401=) c.25189C= (p.Leu8397=) c.25132C= (p.Leu8378=) c.25120C= (p.Leu8374=) c.25117C= (p.Leu8373=) c.25114C= (p.Leu8372=) c.25270C= (p.Leu8424=) c.25108C= (p.Leu8370=) c.23548C= (p.Leu7850=) c.23041C= (p.Leu7681=) c.18508C= (p.Leu6170=) c.1774C= (p.Leu592=) c.25246C= (p.Leu8416=) c.25195C= (p.Leu8399=) c.25048C= (p.Leu8350=) | |
| 6 | g.152141281G>T | CA366082217 | SYNE1 | c.1702C>A (p.Leu568Met) c.25168C>A (p.Leu8390Met) c.25024C>A (p.Leu8342Met) c.570C>A c.903C>A c.891-1120C>A c.940C>A (p.Leu314Met) c.23953C>A (p.Leu7985Met) n.1916C>A c.4003C>A (p.Leu1335Met) n.8860C>A c.3106C>A (p.Leu1036Met) n.8752C>A n.1782C>A n.4190C>A n.2005C>A c.1633C>A (p.Leu545Met) c.25273C>A (p.Leu8425Met) c.25261C>A (p.Leu8421Met) c.25252C>A (p.Leu8418Met) c.25222C>A (p.Leu8408Met) c.25258C>A (p.Leu8420Met) c.25204C>A (p.Leu8402Met) c.25201C>A (p.Leu8401Met) c.25189C>A (p.Leu8397Met) c.25132C>A (p.Leu8378Met) c.25120C>A (p.Leu8374Met) c.25117C>A (p.Leu8373Met) c.25114C>A (p.Leu8372Met) c.25270C>A (p.Leu8424Met) c.25108C>A (p.Leu8370Met) c.23548C>A (p.Leu7850Met) c.23041C>A (p.Leu7681Met) c.18508C>A (p.Leu6170Met) c.1774C>A (p.Leu592Met) c.25246C>A (p.Leu8416Met) c.25195C>A (p.Leu8399Met) c.25048C>A (p.Leu8350Met) | gnomAD v4 |
| 6 | g.152141282T>A | CA366082219 | SYNE1 | c.1701A>T (p.Arg567Ser) c.25167A>T (p.Arg8389Ser) c.25023A>T (p.Arg8341Ser) c.569A>T c.902A>T c.891-1121A>T c.939A>T (p.Arg313Ser) c.23952A>T (p.Arg7984Ser) n.1915A>T c.4002A>T (p.Arg1334Ser) n.8859A>T c.3105A>T (p.Arg1035Ser) n.8751A>T n.1781A>T n.4189A>T n.2004A>T c.1632A>T (p.Arg544Ser) c.25272A>T (p.Arg8424Ser) c.25260A>T (p.Arg8420Ser) c.25251A>T (p.Arg8417Ser) c.25221A>T (p.Arg8407Ser) c.25257A>T (p.Arg8419Ser) c.25203A>T (p.Arg8401Ser) c.25200A>T (p.Arg8400Ser) c.25188A>T (p.Arg8396Ser) c.25131A>T (p.Arg8377Ser) c.25119A>T (p.Arg8373Ser) c.25116A>T (p.Arg8372Ser) c.25113A>T (p.Arg8371Ser) c.25269A>T (p.Arg8423Ser) c.25107A>T (p.Arg8369Ser) c.23547A>T (p.Arg7849Ser) c.23040A>T (p.Arg7680Ser) c.18507A>T (p.Arg6169Ser) c.1773A>T (p.Arg591Ser) c.25245A>T (p.Arg8415Ser) c.25194A>T (p.Arg8398Ser) c.25047A>T (p.Arg8349Ser) | |
| 6 | g.152141282T>C | CA452747118 | SYNE1 | c.1701A>G (p.Arg567=) c.25167A>G (p.Arg8389=) c.25023A>G (p.Arg8341=) c.569A>G c.902A>G c.891-1121A>G c.939A>G (p.Arg313=) c.23952A>G (p.Arg7984=) n.1915A>G c.4002A>G (p.Arg1334=) n.8859A>G c.3105A>G (p.Arg1035=) n.8751A>G n.1781A>G n.4189A>G n.2004A>G c.1632A>G (p.Arg544=) c.25272A>G (p.Arg8424=) c.25260A>G (p.Arg8420=) c.25251A>G (p.Arg8417=) c.25221A>G (p.Arg8407=) c.25257A>G (p.Arg8419=) c.25203A>G (p.Arg8401=) c.25200A>G (p.Arg8400=) c.25188A>G (p.Arg8396=) c.25131A>G (p.Arg8377=) c.25119A>G (p.Arg8373=) c.25116A>G (p.Arg8372=) c.25113A>G (p.Arg8371=) c.25269A>G (p.Arg8423=) c.25107A>G (p.Arg8369=) c.23547A>G (p.Arg7849=) c.23040A>G (p.Arg7680=) c.18507A>G (p.Arg6169=) c.1773A>G (p.Arg591=) c.25245A>G (p.Arg8415=) c.25194A>G (p.Arg8398=) c.25047A>G (p.Arg8349=) | |
| 6 | g.152141282T>G | CA366082221 | SYNE1 | c.1701A>C (p.Arg567Ser) c.25167A>C (p.Arg8389Ser) c.25023A>C (p.Arg8341Ser) c.569A>C c.902A>C c.891-1121A>C c.939A>C (p.Arg313Ser) c.23952A>C (p.Arg7984Ser) n.1915A>C c.4002A>C (p.Arg1334Ser) n.8859A>C c.3105A>C (p.Arg1035Ser) n.8751A>C n.1781A>C n.4189A>C n.2004A>C c.1632A>C (p.Arg544Ser) c.25272A>C (p.Arg8424Ser) c.25260A>C (p.Arg8420Ser) c.25251A>C (p.Arg8417Ser) c.25221A>C (p.Arg8407Ser) c.25257A>C (p.Arg8419Ser) c.25203A>C (p.Arg8401Ser) c.25200A>C (p.Arg8400Ser) c.25188A>C (p.Arg8396Ser) c.25131A>C (p.Arg8377Ser) c.25119A>C (p.Arg8373Ser) c.25116A>C (p.Arg8372Ser) c.25113A>C (p.Arg8371Ser) c.25269A>C (p.Arg8423Ser) c.25107A>C (p.Arg8369Ser) c.23547A>C (p.Arg7849Ser) c.23040A>C (p.Arg7680Ser) c.18507A>C (p.Arg6169Ser) c.1773A>C (p.Arg591Ser) c.25245A>C (p.Arg8415Ser) c.25194A>C (p.Arg8398Ser) c.25047A>C (p.Arg8349Ser) | |
| 6 | g.152141283C>A | CA366082223 | SYNE1 | c.1700G>T (p.Arg567Ile) c.25166G>T (p.Arg8389Ile) c.25022G>T (p.Arg8341Ile) c.568G>T c.901G>T c.891-1122G>T c.938G>T (p.Arg313Ile) c.23951G>T (p.Arg7984Ile) n.1914G>T c.4001G>T (p.Arg1334Ile) n.8858G>T c.3104G>T (p.Arg1035Ile) n.8750G>T n.1780G>T n.4188G>T n.2003G>T c.1631G>T (p.Arg544Ile) c.25271G>T (p.Arg8424Ile) c.25259G>T (p.Arg8420Ile) c.25250G>T (p.Arg8417Ile) c.25220G>T (p.Arg8407Ile) c.25256G>T (p.Arg8419Ile) c.25202G>T (p.Arg8401Ile) c.25199G>T (p.Arg8400Ile) c.25187G>T (p.Arg8396Ile) c.25130G>T (p.Arg8377Ile) c.25118G>T (p.Arg8373Ile) c.25115G>T (p.Arg8372Ile) c.25112G>T (p.Arg8371Ile) c.25268G>T (p.Arg8423Ile) c.25106G>T (p.Arg8369Ile) c.23546G>T (p.Arg7849Ile) c.23039G>T (p.Arg7680Ile) c.18506G>T (p.Arg6169Ile) c.1772G>T (p.Arg591Ile) c.25244G>T (p.Arg8415Ile) c.25193G>T (p.Arg8398Ile) c.25046G>T (p.Arg8349Ile) | |
| 6 | g.152141283C= | CA1673207697 | SYNE1 | c.1700G= (p.Arg567=) c.25166G= (p.Arg8389=) c.25022G= (p.Arg8341=) c.568G= c.901G= c.891-1122G= c.938G= (p.Arg313=) c.23951G= (p.Arg7984=) n.1914G= c.4001G= (p.Arg1334=) n.8858G= c.3104G= (p.Arg1035=) n.8750G= n.1780G= n.4188G= n.2003G= c.1631G= (p.Arg544=) c.25271G= (p.Arg8424=) c.25259G= (p.Arg8420=) c.25250G= (p.Arg8417=) c.25220G= (p.Arg8407=) c.25256G= (p.Arg8419=) c.25202G= (p.Arg8401=) c.25199G= (p.Arg8400=) c.25187G= (p.Arg8396=) c.25130G= (p.Arg8377=) c.25118G= (p.Arg8373=) c.25115G= (p.Arg8372=) c.25112G= (p.Arg8371=) c.25268G= (p.Arg8423=) c.25106G= (p.Arg8369=) c.23546G= (p.Arg7849=) c.23039G= (p.Arg7680=) c.18506G= (p.Arg6169=) c.1772G= (p.Arg591=) c.25244G= (p.Arg8415=) c.25193G= (p.Arg8398=) c.25046G= (p.Arg8349=) | |
| 6 | g.152141283C>G | CA366082224 | SYNE1 | c.1700G>C (p.Arg567Thr) c.25166G>C (p.Arg8389Thr) c.25022G>C (p.Arg8341Thr) c.568G>C c.901G>C c.891-1122G>C c.938G>C (p.Arg313Thr) c.23951G>C (p.Arg7984Thr) n.1914G>C c.4001G>C (p.Arg1334Thr) n.8858G>C c.3104G>C (p.Arg1035Thr) n.8750G>C n.1780G>C n.4188G>C n.2003G>C c.1631G>C (p.Arg544Thr) c.25271G>C (p.Arg8424Thr) c.25259G>C (p.Arg8420Thr) c.25250G>C (p.Arg8417Thr) c.25220G>C (p.Arg8407Thr) c.25256G>C (p.Arg8419Thr) c.25202G>C (p.Arg8401Thr) c.25199G>C (p.Arg8400Thr) c.25187G>C (p.Arg8396Thr) c.25130G>C (p.Arg8377Thr) c.25118G>C (p.Arg8373Thr) c.25115G>C (p.Arg8372Thr) c.25112G>C (p.Arg8371Thr) c.25268G>C (p.Arg8423Thr) c.25106G>C (p.Arg8369Thr) c.23546G>C (p.Arg7849Thr) c.23039G>C (p.Arg7680Thr) c.18506G>C (p.Arg6169Thr) c.1772G>C (p.Arg591Thr) c.25244G>C (p.Arg8415Thr) c.25193G>C (p.Arg8398Thr) c.25046G>C (p.Arg8349Thr) | |
| 6 | g.152141283C>T | CA4052910 | SYNE1 | c.1700G>A (p.Arg567Lys) c.25166G>A (p.Arg8389Lys) c.25022G>A (p.Arg8341Lys) c.568G>A c.901G>A c.891-1122G>A c.938G>A (p.Arg313Lys) c.23951G>A (p.Arg7984Lys) n.1914G>A c.4001G>A (p.Arg1334Lys) n.8858G>A c.3104G>A (p.Arg1035Lys) n.8750G>A n.1780G>A n.4188G>A n.2003G>A c.1631G>A (p.Arg544Lys) c.25271G>A (p.Arg8424Lys) c.25259G>A (p.Arg8420Lys) c.25250G>A (p.Arg8417Lys) c.25220G>A (p.Arg8407Lys) c.25256G>A (p.Arg8419Lys) c.25202G>A (p.Arg8401Lys) c.25199G>A (p.Arg8400Lys) c.25187G>A (p.Arg8396Lys) c.25130G>A (p.Arg8377Lys) c.25118G>A (p.Arg8373Lys) c.25115G>A (p.Arg8372Lys) c.25112G>A (p.Arg8371Lys) c.25268G>A (p.Arg8423Lys) c.25106G>A (p.Arg8369Lys) c.23546G>A (p.Arg7849Lys) c.23039G>A (p.Arg7680Lys) c.18506G>A (p.Arg6169Lys) c.1772G>A (p.Arg591Lys) c.25244G>A (p.Arg8415Lys) c.25193G>A (p.Arg8398Lys) c.25046G>A (p.Arg8349Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141284T>A | CA366082227 | SYNE1 | c.1699A>T (p.Arg567Ter) c.25165A>T (p.Arg8389Ter) c.25021A>T (p.Arg8341Ter) c.567A>T c.900A>T c.891-1123A>T c.937A>T (p.Arg313Ter) c.23950A>T (p.Arg7984Ter) n.1913A>T c.4000A>T (p.Arg1334Ter) n.8857A>T c.3103A>T (p.Arg1035Ter) n.8749A>T n.1779A>T n.4187A>T n.2002A>T c.1630A>T (p.Arg544Ter) c.25270A>T (p.Arg8424Ter) c.25258A>T (p.Arg8420Ter) c.25249A>T (p.Arg8417Ter) c.25219A>T (p.Arg8407Ter) c.25255A>T (p.Arg8419Ter) c.25201A>T (p.Arg8401Ter) c.25198A>T (p.Arg8400Ter) c.25186A>T (p.Arg8396Ter) c.25129A>T (p.Arg8377Ter) c.25117A>T (p.Arg8373Ter) c.25114A>T (p.Arg8372Ter) c.25111A>T (p.Arg8371Ter) c.25267A>T (p.Arg8423Ter) c.25105A>T (p.Arg8369Ter) c.23545A>T (p.Arg7849Ter) c.23038A>T (p.Arg7680Ter) c.18505A>T (p.Arg6169Ter) c.1771A>T (p.Arg591Ter) c.25243A>T (p.Arg8415Ter) c.25192A>T (p.Arg8398Ter) c.25045A>T (p.Arg8349Ter) | |
| 6 | g.152141284T>C | CA366082229 | SYNE1 | c.1699A>G (p.Arg567Gly) c.25165A>G (p.Arg8389Gly) c.25021A>G (p.Arg8341Gly) c.567A>G c.900A>G c.891-1123A>G c.937A>G (p.Arg313Gly) c.23950A>G (p.Arg7984Gly) n.1913A>G c.4000A>G (p.Arg1334Gly) n.8857A>G c.3103A>G (p.Arg1035Gly) n.8749A>G n.1779A>G n.4187A>G n.2002A>G c.1630A>G (p.Arg544Gly) c.25270A>G (p.Arg8424Gly) c.25258A>G (p.Arg8420Gly) c.25249A>G (p.Arg8417Gly) c.25219A>G (p.Arg8407Gly) c.25255A>G (p.Arg8419Gly) c.25201A>G (p.Arg8401Gly) c.25198A>G (p.Arg8400Gly) c.25186A>G (p.Arg8396Gly) c.25129A>G (p.Arg8377Gly) c.25117A>G (p.Arg8373Gly) c.25114A>G (p.Arg8372Gly) c.25111A>G (p.Arg8371Gly) c.25267A>G (p.Arg8423Gly) c.25105A>G (p.Arg8369Gly) c.23545A>G (p.Arg7849Gly) c.23038A>G (p.Arg7680Gly) c.18505A>G (p.Arg6169Gly) c.1771A>G (p.Arg591Gly) c.25243A>G (p.Arg8415Gly) c.25192A>G (p.Arg8398Gly) c.25045A>G (p.Arg8349Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152141284T>G | CA452747119 | SYNE1 | c.1699A>C (p.Arg567=) c.25165A>C (p.Arg8389=) c.25021A>C (p.Arg8341=) c.567A>C c.900A>C c.891-1123A>C c.937A>C (p.Arg313=) c.23950A>C (p.Arg7984=) n.1913A>C c.4000A>C (p.Arg1334=) n.8857A>C c.3103A>C (p.Arg1035=) n.8749A>C n.1779A>C n.4187A>C n.2002A>C c.1630A>C (p.Arg544=) c.25270A>C (p.Arg8424=) c.25258A>C (p.Arg8420=) c.25249A>C (p.Arg8417=) c.25219A>C (p.Arg8407=) c.25255A>C (p.Arg8419=) c.25201A>C (p.Arg8401=) c.25198A>C (p.Arg8400=) c.25186A>C (p.Arg8396=) c.25129A>C (p.Arg8377=) c.25117A>C (p.Arg8373=) c.25114A>C (p.Arg8372=) c.25111A>C (p.Arg8371=) c.25267A>C (p.Arg8423=) c.25105A>C (p.Arg8369=) c.23545A>C (p.Arg7849=) c.23038A>C (p.Arg7680=) c.18505A>C (p.Arg6169=) c.1771A>C (p.Arg591=) c.25243A>C (p.Arg8415=) c.25192A>C (p.Arg8398=) c.25045A>C (p.Arg8349=) | |
| 6 | g.152141284T= | CA1673207702 | SYNE1 | c.1699A= (p.Arg567=) c.25165A= (p.Arg8389=) c.25021A= (p.Arg8341=) c.567A= c.900A= c.891-1123A= c.937A= (p.Arg313=) c.23950A= (p.Arg7984=) n.1913A= c.4000A= (p.Arg1334=) n.8857A= c.3103A= (p.Arg1035=) n.8749A= n.1779A= n.4187A= n.2002A= c.1630A= (p.Arg544=) c.25270A= (p.Arg8424=) c.25258A= (p.Arg8420=) c.25249A= (p.Arg8417=) c.25219A= (p.Arg8407=) c.25255A= (p.Arg8419=) c.25201A= (p.Arg8401=) c.25198A= (p.Arg8400=) c.25186A= (p.Arg8396=) c.25129A= (p.Arg8377=) c.25117A= (p.Arg8373=) c.25114A= (p.Arg8372=) c.25111A= (p.Arg8371=) c.25267A= (p.Arg8423=) c.25105A= (p.Arg8369=) c.23545A= (p.Arg7849=) c.23038A= (p.Arg7680=) c.18505A= (p.Arg6169=) c.1771A= (p.Arg591=) c.25243A= (p.Arg8415=) c.25192A= (p.Arg8398=) c.25045A= (p.Arg8349=) | |
| 6 | g.152141285C>A | CA366082231 | SYNE1 | c.1698G>T (p.Lys566Asn) c.25164G>T (p.Lys8388Asn) c.25020G>T (p.Lys8340Asn) c.566G>T c.899G>T c.891-1124G>T c.936G>T (p.Lys312Asn) c.23949G>T (p.Lys7983Asn) n.1912G>T c.3999G>T (p.Lys1333Asn) n.8856G>T c.3102G>T (p.Lys1034Asn) n.8748G>T n.1778G>T n.4186G>T n.2001G>T c.1629G>T (p.Lys543Asn) c.25269G>T (p.Lys8423Asn) c.25257G>T (p.Lys8419Asn) c.25248G>T (p.Lys8416Asn) c.25218G>T (p.Lys8406Asn) c.25254G>T (p.Lys8418Asn) c.25200G>T (p.Lys8400Asn) c.25197G>T (p.Lys8399Asn) c.25185G>T (p.Lys8395Asn) c.25128G>T (p.Lys8376Asn) c.25116G>T (p.Lys8372Asn) c.25113G>T (p.Lys8371Asn) c.25110G>T (p.Lys8370Asn) c.25266G>T (p.Lys8422Asn) c.25104G>T (p.Lys8368Asn) c.23544G>T (p.Lys7848Asn) c.23037G>T (p.Lys7679Asn) c.18504G>T (p.Lys6168Asn) c.1770G>T (p.Lys590Asn) c.25242G>T (p.Lys8414Asn) c.25191G>T (p.Lys8397Asn) c.25044G>T (p.Lys8348Asn) | |
| 6 | g.152141285C= | CA1673207706 | SYNE1 | c.1698G= (p.Lys566=) c.25164G= (p.Lys8388=) c.25020G= (p.Lys8340=) c.566G= c.899G= c.891-1124G= c.936G= (p.Lys312=) c.23949G= (p.Lys7983=) n.1912G= c.3999G= (p.Lys1333=) n.8856G= c.3102G= (p.Lys1034=) n.8748G= n.1778G= n.4186G= n.2001G= c.1629G= (p.Lys543=) c.25269G= (p.Lys8423=) c.25257G= (p.Lys8419=) c.25248G= (p.Lys8416=) c.25218G= (p.Lys8406=) c.25254G= (p.Lys8418=) c.25200G= (p.Lys8400=) c.25197G= (p.Lys8399=) c.25185G= (p.Lys8395=) c.25128G= (p.Lys8376=) c.25116G= (p.Lys8372=) c.25113G= (p.Lys8371=) c.25110G= (p.Lys8370=) c.25266G= (p.Lys8422=) c.25104G= (p.Lys8368=) c.23544G= (p.Lys7848=) c.23037G= (p.Lys7679=) c.18504G= (p.Lys6168=) c.1770G= (p.Lys590=) c.25242G= (p.Lys8414=) c.25191G= (p.Lys8397=) c.25044G= (p.Lys8348=) | |
| 6 | g.152141285C>G | CA150166729 | SYNE1 | c.1698G>C (p.Lys566Asn) c.25164G>C (p.Lys8388Asn) c.25020G>C (p.Lys8340Asn) c.566G>C c.899G>C c.891-1124G>C c.936G>C (p.Lys312Asn) c.23949G>C (p.Lys7983Asn) n.1912G>C c.3999G>C (p.Lys1333Asn) n.8856G>C c.3102G>C (p.Lys1034Asn) n.8748G>C n.1778G>C n.4186G>C n.2001G>C c.1629G>C (p.Lys543Asn) c.25269G>C (p.Lys8423Asn) c.25257G>C (p.Lys8419Asn) c.25248G>C (p.Lys8416Asn) c.25218G>C (p.Lys8406Asn) c.25254G>C (p.Lys8418Asn) c.25200G>C (p.Lys8400Asn) c.25197G>C (p.Lys8399Asn) c.25185G>C (p.Lys8395Asn) c.25128G>C (p.Lys8376Asn) c.25116G>C (p.Lys8372Asn) c.25113G>C (p.Lys8371Asn) c.25110G>C (p.Lys8370Asn) c.25266G>C (p.Lys8422Asn) c.25104G>C (p.Lys8368Asn) c.23544G>C (p.Lys7848Asn) c.23037G>C (p.Lys7679Asn) c.18504G>C (p.Lys6168Asn) c.1770G>C (p.Lys590Asn) c.25242G>C (p.Lys8414Asn) c.25191G>C (p.Lys8397Asn) c.25044G>C (p.Lys8348Asn) | dbSNP gnomAD v4 |
| 6 | g.152141285C>T | CA4052911 | SYNE1 | c.1698G>A (p.Lys566=) c.25164G>A (p.Lys8388=) c.25020G>A (p.Lys8340=) c.566G>A c.899G>A c.891-1124G>A c.936G>A (p.Lys312=) c.23949G>A (p.Lys7983=) n.1912G>A c.3999G>A (p.Lys1333=) n.8856G>A c.3102G>A (p.Lys1034=) n.8748G>A n.1778G>A n.4186G>A n.2001G>A c.1629G>A (p.Lys543=) c.25269G>A (p.Lys8423=) c.25257G>A (p.Lys8419=) c.25248G>A (p.Lys8416=) c.25218G>A (p.Lys8406=) c.25254G>A (p.Lys8418=) c.25200G>A (p.Lys8400=) c.25197G>A (p.Lys8399=) c.25185G>A (p.Lys8395=) c.25128G>A (p.Lys8376=) c.25116G>A (p.Lys8372=) c.25113G>A (p.Lys8371=) c.25110G>A (p.Lys8370=) c.25266G>A (p.Lys8422=) c.25104G>A (p.Lys8368=) c.23544G>A (p.Lys7848=) c.23037G>A (p.Lys7679=) c.18504G>A (p.Lys6168=) c.1770G>A (p.Lys590=) c.25242G>A (p.Lys8414=) c.25191G>A (p.Lys8397=) c.25044G>A (p.Lys8348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141285_152141287delinsCTT | CA1673207707 | SYNE1 | c.1696_1698delinsAAG (p.Lys566=) c.25162_25164delinsAAG (p.Lys8388=) c.25018_25020delinsAAG (p.Lys8340=) c.564_566delinsAAG c.897_899delinsAAG c.891-1126_891-1124delinsAAG c.934_936delinsAAG (p.Lys312=) c.23947_23949delinsAAG (p.Lys7983=) n.1910_1912delinsAAG c.3997_3999delinsAAG (p.Lys1333=) n.8854_8856delinsAAG c.3100_3102delinsAAG (p.Lys1034=) n.8746_8748delinsAAG n.1776_1778delinsAAG n.4184_4186delinsAAG n.1999_2001delinsAAG c.1627_1629delinsAAG (p.Lys543=) c.25267_25269delinsAAG (p.Lys8423=) c.25255_25257delinsAAG (p.Lys8419=) c.25246_25248delinsAAG (p.Lys8416=) c.25216_25218delinsAAG (p.Lys8406=) c.25252_25254delinsAAG (p.Lys8418=) c.25198_25200delinsAAG (p.Lys8400=) c.25195_25197delinsAAG (p.Lys8399=) c.25183_25185delinsAAG (p.Lys8395=) c.25126_25128delinsAAG (p.Lys8376=) c.25114_25116delinsAAG (p.Lys8372=) c.25111_25113delinsAAG (p.Lys8371=) c.25108_25110delinsAAG (p.Lys8370=) c.25264_25266delinsAAG (p.Lys8422=) c.25102_25104delinsAAG (p.Lys8368=) c.23542_23544delinsAAG (p.Lys7848=) c.23035_23037delinsAAG (p.Lys7679=) c.18502_18504delinsAAG (p.Lys6168=) c.1768_1770delinsAAG (p.Lys590=) c.25240_25242delinsAAG (p.Lys8414=) c.25189_25191delinsAAG (p.Lys8397=) c.25042_25044delinsAAG (p.Lys8348=) | |
| 6 | g.152141286T>A | CA366082234 | SYNE1 | c.1697A>T (p.Lys566Met) c.25163A>T (p.Lys8388Met) c.25019A>T (p.Lys8340Met) c.565A>T c.898A>T c.891-1125A>T c.935A>T (p.Lys312Met) c.23948A>T (p.Lys7983Met) n.1911A>T c.3998A>T (p.Lys1333Met) n.8855A>T c.3101A>T (p.Lys1034Met) n.8747A>T n.1777A>T n.4185A>T n.2000A>T c.1628A>T (p.Lys543Met) c.25268A>T (p.Lys8423Met) c.25256A>T (p.Lys8419Met) c.25247A>T (p.Lys8416Met) c.25217A>T (p.Lys8406Met) c.25253A>T (p.Lys8418Met) c.25199A>T (p.Lys8400Met) c.25196A>T (p.Lys8399Met) c.25184A>T (p.Lys8395Met) c.25127A>T (p.Lys8376Met) c.25115A>T (p.Lys8372Met) c.25112A>T (p.Lys8371Met) c.25109A>T (p.Lys8370Met) c.25265A>T (p.Lys8422Met) c.25103A>T (p.Lys8368Met) c.23543A>T (p.Lys7848Met) c.23036A>T (p.Lys7679Met) c.18503A>T (p.Lys6168Met) c.1769A>T (p.Lys590Met) c.25241A>T (p.Lys8414Met) c.25190A>T (p.Lys8397Met) c.25043A>T (p.Lys8348Met) | |
| 6 | g.152141286T>C | CA366082236 | SYNE1 | c.1697A>G (p.Lys566Arg) c.25163A>G (p.Lys8388Arg) c.25019A>G (p.Lys8340Arg) c.565A>G c.898A>G c.891-1125A>G c.935A>G (p.Lys312Arg) c.23948A>G (p.Lys7983Arg) n.1911A>G c.3998A>G (p.Lys1333Arg) n.8855A>G c.3101A>G (p.Lys1034Arg) n.8747A>G n.1777A>G n.4185A>G n.2000A>G c.1628A>G (p.Lys543Arg) c.25268A>G (p.Lys8423Arg) c.25256A>G (p.Lys8419Arg) c.25247A>G (p.Lys8416Arg) c.25217A>G (p.Lys8406Arg) c.25253A>G (p.Lys8418Arg) c.25199A>G (p.Lys8400Arg) c.25196A>G (p.Lys8399Arg) c.25184A>G (p.Lys8395Arg) c.25127A>G (p.Lys8376Arg) c.25115A>G (p.Lys8372Arg) c.25112A>G (p.Lys8371Arg) c.25109A>G (p.Lys8370Arg) c.25265A>G (p.Lys8422Arg) c.25103A>G (p.Lys8368Arg) c.23543A>G (p.Lys7848Arg) c.23036A>G (p.Lys7679Arg) c.18503A>G (p.Lys6168Arg) c.1769A>G (p.Lys590Arg) c.25241A>G (p.Lys8414Arg) c.25190A>G (p.Lys8397Arg) c.25043A>G (p.Lys8348Arg) | gnomAD v4 |
| 6 | g.152141286T>G | CA366082238 | SYNE1 | c.1697A>C (p.Lys566Thr) c.25163A>C (p.Lys8388Thr) c.25019A>C (p.Lys8340Thr) c.565A>C c.898A>C c.891-1125A>C c.935A>C (p.Lys312Thr) c.23948A>C (p.Lys7983Thr) n.1911A>C c.3998A>C (p.Lys1333Thr) n.8855A>C c.3101A>C (p.Lys1034Thr) n.8747A>C n.1777A>C n.4185A>C n.2000A>C c.1628A>C (p.Lys543Thr) c.25268A>C (p.Lys8423Thr) c.25256A>C (p.Lys8419Thr) c.25247A>C (p.Lys8416Thr) c.25217A>C (p.Lys8406Thr) c.25253A>C (p.Lys8418Thr) c.25199A>C (p.Lys8400Thr) c.25196A>C (p.Lys8399Thr) c.25184A>C (p.Lys8395Thr) c.25127A>C (p.Lys8376Thr) c.25115A>C (p.Lys8372Thr) c.25112A>C (p.Lys8371Thr) c.25109A>C (p.Lys8370Thr) c.25265A>C (p.Lys8422Thr) c.25103A>C (p.Lys8368Thr) c.23543A>C (p.Lys7848Thr) c.23036A>C (p.Lys7679Thr) c.18503A>C (p.Lys6168Thr) c.1769A>C (p.Lys590Thr) c.25241A>C (p.Lys8414Thr) c.25190A>C (p.Lys8397Thr) c.25043A>C (p.Lys8348Thr) | |
| 6 | g.152141286_152141287del | CA4052912 | SYNE1 | c.1696_1697del (p.Lys566GlufsTer18) c.25162_25163del (p.Lys8388GlufsTer18) c.25018_25019del (p.Lys8340GlufsTer18) c.564_565del c.897_898del c.891-1126_891-1125del c.934_935del (p.Lys312GlufsTer18) c.23947_23948del (p.Lys7983GlufsTer18) n.1910_1911del c.3997_3998del (p.Lys1333GlufsTer18) n.8854_8855del c.3100_3101del (p.Lys1034GlufsTer18) n.8746_8747del n.1776_1777del n.4184_4185del n.1999_2000del c.1627_1628del (p.Lys543GlufsTer18) c.25267_25268del (p.Lys8423GlufsTer18) c.25255_25256del (p.Lys8419GlufsTer18) c.25246_25247del (p.Lys8416GlufsTer18) c.25216_25217del (p.Lys8406GlufsTer18) c.25252_25253del (p.Lys8418GlufsTer18) c.25198_25199del (p.Lys8400GlufsTer18) c.25195_25196del (p.Lys8399GlufsTer18) c.25183_25184del (p.Lys8395GlufsTer18) c.25126_25127del (p.Lys8376GlufsTer18) c.25114_25115del (p.Lys8372GlufsTer18) c.25111_25112del (p.Lys8371GlufsTer18) c.25108_25109del (p.Lys8370GlufsTer18) c.25264_25265del (p.Lys8422GlufsTer18) c.25102_25103del (p.Lys8368GlufsTer18) c.23542_23543del (p.Lys7848GlufsTer18) c.23035_23036del (p.Lys7679GlufsTer18) c.18502_18503del (p.Lys6168GlufsTer18) c.1768_1769del (p.Lys590GlufsTer18) c.25240_25241del (p.Lys8414GlufsTer18) c.25189_25190del (p.Lys8397GlufsTer18) c.25042_25043del (p.Lys8348GlufsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141287T>A | CA366082245 | SYNE1 | c.1696A>T (p.Lys566Ter) c.25162A>T (p.Lys8388Ter) c.25018A>T (p.Lys8340Ter) c.564A>T c.897A>T c.891-1126A>T c.934A>T (p.Lys312Ter) c.23947A>T (p.Lys7983Ter) n.1910A>T c.3997A>T (p.Lys1333Ter) n.8854A>T c.3100A>T (p.Lys1034Ter) n.8746A>T n.1776A>T n.4184A>T n.1999A>T c.1627A>T (p.Lys543Ter) c.25267A>T (p.Lys8423Ter) c.25255A>T (p.Lys8419Ter) c.25246A>T (p.Lys8416Ter) c.25216A>T (p.Lys8406Ter) c.25252A>T (p.Lys8418Ter) c.25198A>T (p.Lys8400Ter) c.25195A>T (p.Lys8399Ter) c.25183A>T (p.Lys8395Ter) c.25126A>T (p.Lys8376Ter) c.25114A>T (p.Lys8372Ter) c.25111A>T (p.Lys8371Ter) c.25108A>T (p.Lys8370Ter) c.25264A>T (p.Lys8422Ter) c.25102A>T (p.Lys8368Ter) c.23542A>T (p.Lys7848Ter) c.23035A>T (p.Lys7679Ter) c.18502A>T (p.Lys6168Ter) c.1768A>T (p.Lys590Ter) c.25240A>T (p.Lys8414Ter) c.25189A>T (p.Lys8397Ter) c.25042A>T (p.Lys8348Ter) | |
| 6 | g.152141287T>C | CA366082243 | SYNE1 | c.1696A>G (p.Lys566Glu) c.25162A>G (p.Lys8388Glu) c.25018A>G (p.Lys8340Glu) c.564A>G c.897A>G c.891-1126A>G c.934A>G (p.Lys312Glu) c.23947A>G (p.Lys7983Glu) n.1910A>G c.3997A>G (p.Lys1333Glu) n.8854A>G c.3100A>G (p.Lys1034Glu) n.8746A>G n.1776A>G n.4184A>G n.1999A>G c.1627A>G (p.Lys543Glu) c.25267A>G (p.Lys8423Glu) c.25255A>G (p.Lys8419Glu) c.25246A>G (p.Lys8416Glu) c.25216A>G (p.Lys8406Glu) c.25252A>G (p.Lys8418Glu) c.25198A>G (p.Lys8400Glu) c.25195A>G (p.Lys8399Glu) c.25183A>G (p.Lys8395Glu) c.25126A>G (p.Lys8376Glu) c.25114A>G (p.Lys8372Glu) c.25111A>G (p.Lys8371Glu) c.25108A>G (p.Lys8370Glu) c.25264A>G (p.Lys8422Glu) c.25102A>G (p.Lys8368Glu) c.23542A>G (p.Lys7848Glu) c.23035A>G (p.Lys7679Glu) c.18502A>G (p.Lys6168Glu) c.1768A>G (p.Lys590Glu) c.25240A>G (p.Lys8414Glu) c.25189A>G (p.Lys8397Glu) c.25042A>G (p.Lys8348Glu) | |
| 6 | g.152141287T>G | CA4052913 | SYNE1 | c.1696A>C (p.Lys566Gln) c.25162A>C (p.Lys8388Gln) c.25018A>C (p.Lys8340Gln) c.564A>C c.897A>C c.891-1126A>C c.934A>C (p.Lys312Gln) c.23947A>C (p.Lys7983Gln) n.1910A>C c.3997A>C (p.Lys1333Gln) n.8854A>C c.3100A>C (p.Lys1034Gln) n.8746A>C n.1776A>C n.4184A>C n.1999A>C c.1627A>C (p.Lys543Gln) c.25267A>C (p.Lys8423Gln) c.25255A>C (p.Lys8419Gln) c.25246A>C (p.Lys8416Gln) c.25216A>C (p.Lys8406Gln) c.25252A>C (p.Lys8418Gln) c.25198A>C (p.Lys8400Gln) c.25195A>C (p.Lys8399Gln) c.25183A>C (p.Lys8395Gln) c.25126A>C (p.Lys8376Gln) c.25114A>C (p.Lys8372Gln) c.25111A>C (p.Lys8371Gln) c.25108A>C (p.Lys8370Gln) c.25264A>C (p.Lys8422Gln) c.25102A>C (p.Lys8368Gln) c.23542A>C (p.Lys7848Gln) c.23035A>C (p.Lys7679Gln) c.18502A>C (p.Lys6168Gln) c.1768A>C (p.Lys590Gln) c.25240A>C (p.Lys8414Gln) c.25189A>C (p.Lys8397Gln) c.25042A>C (p.Lys8348Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141287T= | CA1673207714 | SYNE1 | c.1696A= (p.Lys566=) c.25162A= (p.Lys8388=) c.25018A= (p.Lys8340=) c.564A= c.897A= c.891-1126A= c.934A= (p.Lys312=) c.23947A= (p.Lys7983=) n.1910A= c.3997A= (p.Lys1333=) n.8854A= c.3100A= (p.Lys1034=) n.8746A= n.1776A= n.4184A= n.1999A= c.1627A= (p.Lys543=) c.25267A= (p.Lys8423=) c.25255A= (p.Lys8419=) c.25246A= (p.Lys8416=) c.25216A= (p.Lys8406=) c.25252A= (p.Lys8418=) c.25198A= (p.Lys8400=) c.25195A= (p.Lys8399=) c.25183A= (p.Lys8395=) c.25126A= (p.Lys8376=) c.25114A= (p.Lys8372=) c.25111A= (p.Lys8371=) c.25108A= (p.Lys8370=) c.25264A= (p.Lys8422=) c.25102A= (p.Lys8368=) c.23542A= (p.Lys7848=) c.23035A= (p.Lys7679=) c.18502A= (p.Lys6168=) c.1768A= (p.Lys590=) c.25240A= (p.Lys8414=) c.25189A= (p.Lys8397=) c.25042A= (p.Lys8348=) | |
| 6 | g.152141288C>A | CA452747120 | SYNE1 | c.1695G>T (p.Val565=) c.25161G>T (p.Val8387=) c.25017G>T (p.Val8339=) c.563G>T c.896G>T c.891-1127G>T c.933G>T (p.Val311=) c.23946G>T (p.Val7982=) n.1909G>T c.3996G>T (p.Val1332=) n.8853G>T c.3099G>T (p.Val1033=) n.8745G>T n.1775G>T n.4183G>T n.1998G>T c.1626G>T (p.Val542=) c.25266G>T (p.Val8422=) c.25254G>T (p.Val8418=) c.25245G>T (p.Val8415=) c.25215G>T (p.Val8405=) c.25251G>T (p.Val8417=) c.25197G>T (p.Val8399=) c.25194G>T (p.Val8398=) c.25182G>T (p.Val8394=) c.25125G>T (p.Val8375=) c.25113G>T (p.Val8371=) c.25110G>T (p.Val8370=) c.25107G>T (p.Val8369=) c.25263G>T (p.Val8421=) c.25101G>T (p.Val8367=) c.23541G>T (p.Val7847=) c.23034G>T (p.Val7678=) c.18501G>T (p.Val6167=) c.1767G>T (p.Val589=) c.25239G>T (p.Val8413=) c.25188G>T (p.Val8396=) c.25041G>T (p.Val8347=) | |
| 6 | g.152141288C>G | CA452747121 | SYNE1 | c.1695G>C (p.Val565=) c.25161G>C (p.Val8387=) c.25017G>C (p.Val8339=) c.563G>C c.896G>C c.891-1127G>C c.933G>C (p.Val311=) c.23946G>C (p.Val7982=) n.1909G>C c.3996G>C (p.Val1332=) n.8853G>C c.3099G>C (p.Val1033=) n.8745G>C n.1775G>C n.4183G>C n.1998G>C c.1626G>C (p.Val542=) c.25266G>C (p.Val8422=) c.25254G>C (p.Val8418=) c.25245G>C (p.Val8415=) c.25215G>C (p.Val8405=) c.25251G>C (p.Val8417=) c.25197G>C (p.Val8399=) c.25194G>C (p.Val8398=) c.25182G>C (p.Val8394=) c.25125G>C (p.Val8375=) c.25113G>C (p.Val8371=) c.25110G>C (p.Val8370=) c.25107G>C (p.Val8369=) c.25263G>C (p.Val8421=) c.25101G>C (p.Val8367=) c.23541G>C (p.Val7847=) c.23034G>C (p.Val7678=) c.18501G>C (p.Val6167=) c.1767G>C (p.Val589=) c.25239G>C (p.Val8413=) c.25188G>C (p.Val8396=) c.25041G>C (p.Val8347=) | |
| 6 | g.152141288C>T | CA452747122 | SYNE1 | c.1695G>A (p.Val565=) c.25161G>A (p.Val8387=) c.25017G>A (p.Val8339=) c.563G>A c.896G>A c.891-1127G>A c.933G>A (p.Val311=) c.23946G>A (p.Val7982=) n.1909G>A c.3996G>A (p.Val1332=) n.8853G>A c.3099G>A (p.Val1033=) n.8745G>A n.1775G>A n.4183G>A n.1998G>A c.1626G>A (p.Val542=) c.25266G>A (p.Val8422=) c.25254G>A (p.Val8418=) c.25245G>A (p.Val8415=) c.25215G>A (p.Val8405=) c.25251G>A (p.Val8417=) c.25197G>A (p.Val8399=) c.25194G>A (p.Val8398=) c.25182G>A (p.Val8394=) c.25125G>A (p.Val8375=) c.25113G>A (p.Val8371=) c.25110G>A (p.Val8370=) c.25107G>A (p.Val8369=) c.25263G>A (p.Val8421=) c.25101G>A (p.Val8367=) c.23541G>A (p.Val7847=) c.23034G>A (p.Val7678=) c.18501G>A (p.Val6167=) c.1767G>A (p.Val589=) c.25239G>A (p.Val8413=) c.25188G>A (p.Val8396=) c.25041G>A (p.Val8347=) | |
| 6 | g.152141289A>C | CA366082247 | SYNE1 | c.1694T>G (p.Val565Gly) c.25160T>G (p.Val8387Gly) c.25016T>G (p.Val8339Gly) c.562T>G c.895T>G c.891-1128T>G c.932T>G (p.Val311Gly) c.23945T>G (p.Val7982Gly) n.1908T>G c.3995T>G (p.Val1332Gly) n.8852T>G c.3098T>G (p.Val1033Gly) n.8744T>G n.1774T>G n.4182T>G n.1997T>G c.1625T>G (p.Val542Gly) c.25265T>G (p.Val8422Gly) c.25253T>G (p.Val8418Gly) c.25244T>G (p.Val8415Gly) c.25214T>G (p.Val8405Gly) c.25250T>G (p.Val8417Gly) c.25196T>G (p.Val8399Gly) c.25193T>G (p.Val8398Gly) c.25181T>G (p.Val8394Gly) c.25124T>G (p.Val8375Gly) c.25112T>G (p.Val8371Gly) c.25109T>G (p.Val8370Gly) c.25106T>G (p.Val8369Gly) c.25262T>G (p.Val8421Gly) c.25100T>G (p.Val8367Gly) c.23540T>G (p.Val7847Gly) c.23033T>G (p.Val7678Gly) c.18500T>G (p.Val6167Gly) c.1766T>G (p.Val589Gly) c.25238T>G (p.Val8413Gly) c.25187T>G (p.Val8396Gly) c.25040T>G (p.Val8347Gly) | |
| 6 | g.152141289A>G | CA366082248 | SYNE1 | c.1694T>C (p.Val565Ala) c.25160T>C (p.Val8387Ala) c.25016T>C (p.Val8339Ala) c.562T>C c.895T>C c.891-1128T>C c.932T>C (p.Val311Ala) c.23945T>C (p.Val7982Ala) n.1908T>C c.3995T>C (p.Val1332Ala) n.8852T>C c.3098T>C (p.Val1033Ala) n.8744T>C n.1774T>C n.4182T>C n.1997T>C c.1625T>C (p.Val542Ala) c.25265T>C (p.Val8422Ala) c.25253T>C (p.Val8418Ala) c.25244T>C (p.Val8415Ala) c.25214T>C (p.Val8405Ala) c.25250T>C (p.Val8417Ala) c.25196T>C (p.Val8399Ala) c.25193T>C (p.Val8398Ala) c.25181T>C (p.Val8394Ala) c.25124T>C (p.Val8375Ala) c.25112T>C (p.Val8371Ala) c.25109T>C (p.Val8370Ala) c.25106T>C (p.Val8369Ala) c.25262T>C (p.Val8421Ala) c.25100T>C (p.Val8367Ala) c.23540T>C (p.Val7847Ala) c.23033T>C (p.Val7678Ala) c.18500T>C (p.Val6167Ala) c.1766T>C (p.Val589Ala) c.25238T>C (p.Val8413Ala) c.25187T>C (p.Val8396Ala) c.25040T>C (p.Val8347Ala) | |
| 6 | g.152141289A>T | CA366082249 | SYNE1 | c.1694T>A (p.Val565Glu) c.25160T>A (p.Val8387Glu) c.25016T>A (p.Val8339Glu) c.562T>A c.895T>A c.891-1128T>A c.932T>A (p.Val311Glu) c.23945T>A (p.Val7982Glu) n.1908T>A c.3995T>A (p.Val1332Glu) n.8852T>A c.3098T>A (p.Val1033Glu) n.8744T>A n.1774T>A n.4182T>A n.1997T>A c.1625T>A (p.Val542Glu) c.25265T>A (p.Val8422Glu) c.25253T>A (p.Val8418Glu) c.25244T>A (p.Val8415Glu) c.25214T>A (p.Val8405Glu) c.25250T>A (p.Val8417Glu) c.25196T>A (p.Val8399Glu) c.25193T>A (p.Val8398Glu) c.25181T>A (p.Val8394Glu) c.25124T>A (p.Val8375Glu) c.25112T>A (p.Val8371Glu) c.25109T>A (p.Val8370Glu) c.25106T>A (p.Val8369Glu) c.25262T>A (p.Val8421Glu) c.25100T>A (p.Val8367Glu) c.23540T>A (p.Val7847Glu) c.23033T>A (p.Val7678Glu) c.18500T>A (p.Val6167Glu) c.1766T>A (p.Val589Glu) c.25238T>A (p.Val8413Glu) c.25187T>A (p.Val8396Glu) c.25040T>A (p.Val8347Glu) | |
| 6 | g.152141290C>A | CA115486 | SYNE1 | c.1693G>T (p.Val565Leu) c.25159G>T (p.Val8387Leu) c.25015G>T (p.Val8339Leu) c.561G>T c.894G>T c.891-1129G>T c.931G>T (p.Val311Leu) c.23944G>T (p.Val7982Leu) n.1907G>T c.3994G>T (p.Val1332Leu) n.8851G>T c.3097G>T (p.Val1033Leu) n.8743G>T n.1773G>T n.4181G>T n.1996G>T c.1624G>T (p.Val542Leu) c.25264G>T (p.Val8422Leu) c.25252G>T (p.Val8418Leu) c.25243G>T (p.Val8415Leu) c.25213G>T (p.Val8405Leu) c.25249G>T (p.Val8417Leu) c.25195G>T (p.Val8399Leu) c.25192G>T (p.Val8398Leu) c.25180G>T (p.Val8394Leu) c.25123G>T (p.Val8375Leu) c.25111G>T (p.Val8371Leu) c.25108G>T (p.Val8370Leu) c.25105G>T (p.Val8369Leu) c.25261G>T (p.Val8421Leu) c.25099G>T (p.Val8367Leu) c.23539G>T (p.Val7847Leu) c.23032G>T (p.Val7678Leu) c.18499G>T (p.Val6167Leu) c.1765G>T (p.Val589Leu) c.25237G>T (p.Val8413Leu) c.25186G>T (p.Val8396Leu) c.25039G>T (p.Val8347Leu) | ClinVar dbSNP |
| 6 | g.152141290C= | CA1673207720 | SYNE1 | c.1693G= (p.Val565=) c.25159G= (p.Val8387=) c.25015G= (p.Val8339=) c.561G= c.894G= c.891-1129G= c.931G= (p.Val311=) c.23944G= (p.Val7982=) n.1907G= c.3994G= (p.Val1332=) n.8851G= c.3097G= (p.Val1033=) n.8743G= n.1773G= n.4181G= n.1996G= c.1624G= (p.Val542=) c.25264G= (p.Val8422=) c.25252G= (p.Val8418=) c.25243G= (p.Val8415=) c.25213G= (p.Val8405=) c.25249G= (p.Val8417=) c.25195G= (p.Val8399=) c.25192G= (p.Val8398=) c.25180G= (p.Val8394=) c.25123G= (p.Val8375=) c.25111G= (p.Val8371=) c.25108G= (p.Val8370=) c.25105G= (p.Val8369=) c.25261G= (p.Val8421=) c.25099G= (p.Val8367=) c.23539G= (p.Val7847=) c.23032G= (p.Val7678=) c.18499G= (p.Val6167=) c.1765G= (p.Val589=) c.25237G= (p.Val8413=) c.25186G= (p.Val8396=) c.25039G= (p.Val8347=) | |
| 6 | g.152141290C>G | CA366082250 | SYNE1 | c.1693G>C (p.Val565Leu) c.25159G>C (p.Val8387Leu) c.25015G>C (p.Val8339Leu) c.561G>C c.894G>C c.891-1129G>C c.931G>C (p.Val311Leu) c.23944G>C (p.Val7982Leu) n.1907G>C c.3994G>C (p.Val1332Leu) n.8851G>C c.3097G>C (p.Val1033Leu) n.8743G>C n.1773G>C n.4181G>C n.1996G>C c.1624G>C (p.Val542Leu) c.25264G>C (p.Val8422Leu) c.25252G>C (p.Val8418Leu) c.25243G>C (p.Val8415Leu) c.25213G>C (p.Val8405Leu) c.25249G>C (p.Val8417Leu) c.25195G>C (p.Val8399Leu) c.25192G>C (p.Val8398Leu) c.25180G>C (p.Val8394Leu) c.25123G>C (p.Val8375Leu) c.25111G>C (p.Val8371Leu) c.25108G>C (p.Val8370Leu) c.25105G>C (p.Val8369Leu) c.25261G>C (p.Val8421Leu) c.25099G>C (p.Val8367Leu) c.23539G>C (p.Val7847Leu) c.23032G>C (p.Val7678Leu) c.18499G>C (p.Val6167Leu) c.1765G>C (p.Val589Leu) c.25237G>C (p.Val8413Leu) c.25186G>C (p.Val8396Leu) c.25039G>C (p.Val8347Leu) | |
| 6 | g.152141290C>T | CA4052914 | SYNE1 | c.1693G>A (p.Val565Met) c.25159G>A (p.Val8387Met) c.25015G>A (p.Val8339Met) c.561G>A c.894G>A c.891-1129G>A c.931G>A (p.Val311Met) c.23944G>A (p.Val7982Met) n.1907G>A c.3994G>A (p.Val1332Met) n.8851G>A c.3097G>A (p.Val1033Met) n.8743G>A n.1773G>A n.4181G>A n.1996G>A c.1624G>A (p.Val542Met) c.25264G>A (p.Val8422Met) c.25252G>A (p.Val8418Met) c.25243G>A (p.Val8415Met) c.25213G>A (p.Val8405Met) c.25249G>A (p.Val8417Met) c.25195G>A (p.Val8399Met) c.25192G>A (p.Val8398Met) c.25180G>A (p.Val8394Met) c.25123G>A (p.Val8375Met) c.25111G>A (p.Val8371Met) c.25108G>A (p.Val8370Met) c.25105G>A (p.Val8369Met) c.25261G>A (p.Val8421Met) c.25099G>A (p.Val8367Met) c.23539G>A (p.Val7847Met) c.23032G>A (p.Val7678Met) c.18499G>A (p.Val6167Met) c.1765G>A (p.Val589Met) c.25237G>A (p.Val8413Met) c.25186G>A (p.Val8396Met) c.25039G>A (p.Val8347Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141291G>A | CA150166745 | SYNE1 | c.1692C>T (p.Ser564=) c.25158C>T (p.Ser8386=) c.25014C>T (p.Ser8338=) c.560C>T c.893C>T c.891-1130C>T c.930C>T (p.Ser310=) c.23943C>T (p.Ser7981=) n.1906C>T c.3993C>T (p.Ser1331=) n.8850C>T c.3096C>T (p.Ser1032=) n.8742C>T n.1772C>T n.4180C>T n.1995C>T c.1623C>T (p.Ser541=) c.25263C>T (p.Ser8421=) c.25251C>T (p.Ser8417=) c.25242C>T (p.Ser8414=) c.25212C>T (p.Ser8404=) c.25248C>T (p.Ser8416=) c.25194C>T (p.Ser8398=) c.25191C>T (p.Ser8397=) c.25179C>T (p.Ser8393=) c.25122C>T (p.Ser8374=) c.25110C>T (p.Ser8370=) c.25107C>T (p.Ser8369=) c.25104C>T (p.Ser8368=) c.25260C>T (p.Ser8420=) c.25098C>T (p.Ser8366=) c.23538C>T (p.Ser7846=) c.23031C>T (p.Ser7677=) c.18498C>T (p.Ser6166=) c.1764C>T (p.Ser588=) c.25236C>T (p.Ser8412=) c.25185C>T (p.Ser8395=) c.25038C>T (p.Ser8346=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141291G>C | CA452747124 | SYNE1 | c.1692C>G (p.Ser564=) c.25158C>G (p.Ser8386=) c.25014C>G (p.Ser8338=) c.560C>G c.893C>G c.891-1130C>G c.930C>G (p.Ser310=) c.23943C>G (p.Ser7981=) n.1906C>G c.3993C>G (p.Ser1331=) n.8850C>G c.3096C>G (p.Ser1032=) n.8742C>G n.1772C>G n.4180C>G n.1995C>G c.1623C>G (p.Ser541=) c.25263C>G (p.Ser8421=) c.25251C>G (p.Ser8417=) c.25242C>G (p.Ser8414=) c.25212C>G (p.Ser8404=) c.25248C>G (p.Ser8416=) c.25194C>G (p.Ser8398=) c.25191C>G (p.Ser8397=) c.25179C>G (p.Ser8393=) c.25122C>G (p.Ser8374=) c.25110C>G (p.Ser8370=) c.25107C>G (p.Ser8369=) c.25104C>G (p.Ser8368=) c.25260C>G (p.Ser8420=) c.25098C>G (p.Ser8366=) c.23538C>G (p.Ser7846=) c.23031C>G (p.Ser7677=) c.18498C>G (p.Ser6166=) c.1764C>G (p.Ser588=) c.25236C>G (p.Ser8412=) c.25185C>G (p.Ser8395=) c.25038C>G (p.Ser8346=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152141291G= | CA1673207728 | SYNE1 | c.1692C= (p.Ser564=) c.25158C= (p.Ser8386=) c.25014C= (p.Ser8338=) c.560C= c.893C= c.891-1130C= c.930C= (p.Ser310=) c.23943C= (p.Ser7981=) n.1906C= c.3993C= (p.Ser1331=) n.8850C= c.3096C= (p.Ser1032=) n.8742C= n.1772C= n.4180C= n.1995C= c.1623C= (p.Ser541=) c.25263C= (p.Ser8421=) c.25251C= (p.Ser8417=) c.25242C= (p.Ser8414=) c.25212C= (p.Ser8404=) c.25248C= (p.Ser8416=) c.25194C= (p.Ser8398=) c.25191C= (p.Ser8397=) c.25179C= (p.Ser8393=) c.25122C= (p.Ser8374=) c.25110C= (p.Ser8370=) c.25107C= (p.Ser8369=) c.25104C= (p.Ser8368=) c.25260C= (p.Ser8420=) c.25098C= (p.Ser8366=) c.23538C= (p.Ser7846=) c.23031C= (p.Ser7677=) c.18498C= (p.Ser6166=) c.1764C= (p.Ser588=) c.25236C= (p.Ser8412=) c.25185C= (p.Ser8395=) c.25038C= (p.Ser8346=) | |
| 6 | g.152141291G>T | CA452747123 | SYNE1 | c.1692C>A (p.Ser564=) c.25158C>A (p.Ser8386=) c.25014C>A (p.Ser8338=) c.560C>A c.893C>A c.891-1130C>A c.930C>A (p.Ser310=) c.23943C>A (p.Ser7981=) n.1906C>A c.3993C>A (p.Ser1331=) n.8850C>A c.3096C>A (p.Ser1032=) n.8742C>A n.1772C>A n.4180C>A n.1995C>A c.1623C>A (p.Ser541=) c.25263C>A (p.Ser8421=) c.25251C>A (p.Ser8417=) c.25242C>A (p.Ser8414=) c.25212C>A (p.Ser8404=) c.25248C>A (p.Ser8416=) c.25194C>A (p.Ser8398=) c.25191C>A (p.Ser8397=) c.25179C>A (p.Ser8393=) c.25122C>A (p.Ser8374=) c.25110C>A (p.Ser8370=) c.25107C>A (p.Ser8369=) c.25104C>A (p.Ser8368=) c.25260C>A (p.Ser8420=) c.25098C>A (p.Ser8366=) c.23538C>A (p.Ser7846=) c.23031C>A (p.Ser7677=) c.18498C>A (p.Ser6166=) c.1764C>A (p.Ser588=) c.25236C>A (p.Ser8412=) c.25185C>A (p.Ser8395=) c.25038C>A (p.Ser8346=) | |
| 6 | g.152141292G>A | CA366082254 | SYNE1 | c.1691C>T (p.Ser564Phe) c.25157C>T (p.Ser8386Phe) c.25013C>T (p.Ser8338Phe) c.559C>T c.892C>T c.891-1131C>T c.929C>T (p.Ser310Phe) c.23942C>T (p.Ser7981Phe) n.1905C>T c.3992C>T (p.Ser1331Phe) n.8849C>T c.3095C>T (p.Ser1032Phe) n.8741C>T n.1771C>T n.4179C>T n.1994C>T c.1622C>T (p.Ser541Phe) c.25262C>T (p.Ser8421Phe) c.25250C>T (p.Ser8417Phe) c.25241C>T (p.Ser8414Phe) c.25211C>T (p.Ser8404Phe) c.25247C>T (p.Ser8416Phe) c.25193C>T (p.Ser8398Phe) c.25190C>T (p.Ser8397Phe) c.25178C>T (p.Ser8393Phe) c.25121C>T (p.Ser8374Phe) c.25109C>T (p.Ser8370Phe) c.25106C>T (p.Ser8369Phe) c.25103C>T (p.Ser8368Phe) c.25259C>T (p.Ser8420Phe) c.25097C>T (p.Ser8366Phe) c.23537C>T (p.Ser7846Phe) c.23030C>T (p.Ser7677Phe) c.18497C>T (p.Ser6166Phe) c.1763C>T (p.Ser588Phe) c.25235C>T (p.Ser8412Phe) c.25184C>T (p.Ser8395Phe) c.25037C>T (p.Ser8346Phe) | |
| 6 | g.152141292G>C | CA366082255 | SYNE1 | c.1691C>G (p.Ser564Cys) c.25157C>G (p.Ser8386Cys) c.25013C>G (p.Ser8338Cys) c.559C>G c.892C>G c.891-1131C>G c.929C>G (p.Ser310Cys) c.23942C>G (p.Ser7981Cys) n.1905C>G c.3992C>G (p.Ser1331Cys) n.8849C>G c.3095C>G (p.Ser1032Cys) n.8741C>G n.1771C>G n.4179C>G n.1994C>G c.1622C>G (p.Ser541Cys) c.25262C>G (p.Ser8421Cys) c.25250C>G (p.Ser8417Cys) c.25241C>G (p.Ser8414Cys) c.25211C>G (p.Ser8404Cys) c.25247C>G (p.Ser8416Cys) c.25193C>G (p.Ser8398Cys) c.25190C>G (p.Ser8397Cys) c.25178C>G (p.Ser8393Cys) c.25121C>G (p.Ser8374Cys) c.25109C>G (p.Ser8370Cys) c.25106C>G (p.Ser8369Cys) c.25103C>G (p.Ser8368Cys) c.25259C>G (p.Ser8420Cys) c.25097C>G (p.Ser8366Cys) c.23537C>G (p.Ser7846Cys) c.23030C>G (p.Ser7677Cys) c.18497C>G (p.Ser6166Cys) c.1763C>G (p.Ser588Cys) c.25235C>G (p.Ser8412Cys) c.25184C>G (p.Ser8395Cys) c.25037C>G (p.Ser8346Cys) | |
| 6 | g.152141292G= | CA1673207735 | SYNE1 | c.1691C= (p.Ser564=) c.25157C= (p.Ser8386=) c.25013C= (p.Ser8338=) c.559C= c.892C= c.891-1131C= c.929C= (p.Ser310=) c.23942C= (p.Ser7981=) n.1905C= c.3992C= (p.Ser1331=) n.8849C= c.3095C= (p.Ser1032=) n.8741C= n.1771C= n.4179C= n.1994C= c.1622C= (p.Ser541=) c.25262C= (p.Ser8421=) c.25250C= (p.Ser8417=) c.25241C= (p.Ser8414=) c.25211C= (p.Ser8404=) c.25247C= (p.Ser8416=) c.25193C= (p.Ser8398=) c.25190C= (p.Ser8397=) c.25178C= (p.Ser8393=) c.25121C= (p.Ser8374=) c.25109C= (p.Ser8370=) c.25106C= (p.Ser8369=) c.25103C= (p.Ser8368=) c.25259C= (p.Ser8420=) c.25097C= (p.Ser8366=) c.23537C= (p.Ser7846=) c.23030C= (p.Ser7677=) c.18497C= (p.Ser6166=) c.1763C= (p.Ser588=) c.25235C= (p.Ser8412=) c.25184C= (p.Ser8395=) c.25037C= (p.Ser8346=) | |
| 6 | g.152141292G>T | CA366082256 | SYNE1 | c.1691C>A (p.Ser564Tyr) c.25157C>A (p.Ser8386Tyr) c.25013C>A (p.Ser8338Tyr) c.559C>A c.892C>A c.891-1131C>A c.929C>A (p.Ser310Tyr) c.23942C>A (p.Ser7981Tyr) n.1905C>A c.3992C>A (p.Ser1331Tyr) n.8849C>A c.3095C>A (p.Ser1032Tyr) n.8741C>A n.1771C>A n.4179C>A n.1994C>A c.1622C>A (p.Ser541Tyr) c.25262C>A (p.Ser8421Tyr) c.25250C>A (p.Ser8417Tyr) c.25241C>A (p.Ser8414Tyr) c.25211C>A (p.Ser8404Tyr) c.25247C>A (p.Ser8416Tyr) c.25193C>A (p.Ser8398Tyr) c.25190C>A (p.Ser8397Tyr) c.25178C>A (p.Ser8393Tyr) c.25121C>A (p.Ser8374Tyr) c.25109C>A (p.Ser8370Tyr) c.25106C>A (p.Ser8369Tyr) c.25103C>A (p.Ser8368Tyr) c.25259C>A (p.Ser8420Tyr) c.25097C>A (p.Ser8366Tyr) c.23537C>A (p.Ser7846Tyr) c.23030C>A (p.Ser7677Tyr) c.18497C>A (p.Ser6166Tyr) c.1763C>A (p.Ser588Tyr) c.25235C>A (p.Ser8412Tyr) c.25184C>A (p.Ser8395Tyr) c.25037C>A (p.Ser8346Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152141293A>C | CA366082258 | SYNE1 | c.1690T>G (p.Ser564Ala) c.25156T>G (p.Ser8386Ala) c.25012T>G (p.Ser8338Ala) c.558T>G c.891T>G c.891-1132T>G c.928T>G (p.Ser310Ala) c.23941T>G (p.Ser7981Ala) n.1904T>G c.3991T>G (p.Ser1331Ala) n.8848T>G c.3094T>G (p.Ser1032Ala) n.8740T>G n.1770T>G n.4178T>G n.1993T>G c.1621T>G (p.Ser541Ala) c.25261T>G (p.Ser8421Ala) c.25249T>G (p.Ser8417Ala) c.25240T>G (p.Ser8414Ala) c.25210T>G (p.Ser8404Ala) c.25246T>G (p.Ser8416Ala) c.25192T>G (p.Ser8398Ala) c.25189T>G (p.Ser8397Ala) c.25177T>G (p.Ser8393Ala) c.25120T>G (p.Ser8374Ala) c.25108T>G (p.Ser8370Ala) c.25105T>G (p.Ser8369Ala) c.25102T>G (p.Ser8368Ala) c.25258T>G (p.Ser8420Ala) c.25096T>G (p.Ser8366Ala) c.23536T>G (p.Ser7846Ala) c.23029T>G (p.Ser7677Ala) c.18496T>G (p.Ser6166Ala) c.1762T>G (p.Ser588Ala) c.25234T>G (p.Ser8412Ala) c.25183T>G (p.Ser8395Ala) c.25036T>G (p.Ser8346Ala) | |
| 6 | g.152141293A>G | CA366082261 | SYNE1 | c.1690T>C (p.Ser564Pro) c.25156T>C (p.Ser8386Pro) c.25012T>C (p.Ser8338Pro) c.558T>C c.891T>C c.891-1132T>C c.928T>C (p.Ser310Pro) c.23941T>C (p.Ser7981Pro) n.1904T>C c.3991T>C (p.Ser1331Pro) n.8848T>C c.3094T>C (p.Ser1032Pro) n.8740T>C n.1770T>C n.4178T>C n.1993T>C c.1621T>C (p.Ser541Pro) c.25261T>C (p.Ser8421Pro) c.25249T>C (p.Ser8417Pro) c.25240T>C (p.Ser8414Pro) c.25210T>C (p.Ser8404Pro) c.25246T>C (p.Ser8416Pro) c.25192T>C (p.Ser8398Pro) c.25189T>C (p.Ser8397Pro) c.25177T>C (p.Ser8393Pro) c.25120T>C (p.Ser8374Pro) c.25108T>C (p.Ser8370Pro) c.25105T>C (p.Ser8369Pro) c.25102T>C (p.Ser8368Pro) c.25258T>C (p.Ser8420Pro) c.25096T>C (p.Ser8366Pro) c.23536T>C (p.Ser7846Pro) c.23029T>C (p.Ser7677Pro) c.18496T>C (p.Ser6166Pro) c.1762T>C (p.Ser588Pro) c.25234T>C (p.Ser8412Pro) c.25183T>C (p.Ser8395Pro) c.25036T>C (p.Ser8346Pro) | |
| 6 | g.152141293A>T | CA366082262 | SYNE1 | c.1690T>A (p.Ser564Thr) c.25156T>A (p.Ser8386Thr) c.25012T>A (p.Ser8338Thr) c.558T>A c.891T>A c.891-1132T>A c.928T>A (p.Ser310Thr) c.23941T>A (p.Ser7981Thr) n.1904T>A c.3991T>A (p.Ser1331Thr) n.8848T>A c.3094T>A (p.Ser1032Thr) n.8740T>A n.1770T>A n.4178T>A n.1993T>A c.1621T>A (p.Ser541Thr) c.25261T>A (p.Ser8421Thr) c.25249T>A (p.Ser8417Thr) c.25240T>A (p.Ser8414Thr) c.25210T>A (p.Ser8404Thr) c.25246T>A (p.Ser8416Thr) c.25192T>A (p.Ser8398Thr) c.25189T>A (p.Ser8397Thr) c.25177T>A (p.Ser8393Thr) c.25120T>A (p.Ser8374Thr) c.25108T>A (p.Ser8370Thr) c.25105T>A (p.Ser8369Thr) c.25102T>A (p.Ser8368Thr) c.25258T>A (p.Ser8420Thr) c.25096T>A (p.Ser8366Thr) c.23536T>A (p.Ser7846Thr) c.23029T>A (p.Ser7677Thr) c.18496T>A (p.Ser6166Thr) c.1762T>A (p.Ser588Thr) c.25234T>A (p.Ser8412Thr) c.25183T>A (p.Ser8395Thr) c.25036T>A (p.Ser8346Thr) | |
| 6 | g.152141294G>A | CA452747126 | SYNE1 | c.1689C>T (p.Asp563=) c.25155C>T (p.Asp8385=) c.25011C>T (p.Asp8337=) c.557C>T c.890C>T c.891-1133C>T c.927C>T (p.Asp309=) c.23940C>T (p.Asp7980=) n.1903C>T c.3990C>T (p.Asp1330=) n.8847C>T c.3093C>T (p.Asp1031=) n.8739C>T n.1769C>T n.4177C>T n.1992C>T c.1620C>T (p.Asp540=) c.25260C>T (p.Asp8420=) c.25248C>T (p.Asp8416=) c.25239C>T (p.Asp8413=) c.25209C>T (p.Asp8403=) c.25245C>T (p.Asp8415=) c.25191C>T (p.Asp8397=) c.25188C>T (p.Asp8396=) c.25176C>T (p.Asp8392=) c.25119C>T (p.Asp8373=) c.25107C>T (p.Asp8369=) c.25104C>T (p.Asp8368=) c.25101C>T (p.Asp8367=) c.25257C>T (p.Asp8419=) c.25095C>T (p.Asp8365=) c.23535C>T (p.Asp7845=) c.23028C>T (p.Asp7676=) c.18495C>T (p.Asp6165=) c.1761C>T (p.Asp587=) c.25233C>T (p.Asp8411=) c.25182C>T (p.Asp8394=) c.25035C>T (p.Asp8345=) | |
| 6 | g.152141294G>C | CA366082267 | SYNE1 | c.1689C>G (p.Asp563Glu) c.25155C>G (p.Asp8385Glu) c.25011C>G (p.Asp8337Glu) c.557C>G c.890C>G c.891-1133C>G c.927C>G (p.Asp309Glu) c.23940C>G (p.Asp7980Glu) n.1903C>G c.3990C>G (p.Asp1330Glu) n.8847C>G c.3093C>G (p.Asp1031Glu) n.8739C>G n.1769C>G n.4177C>G n.1992C>G c.1620C>G (p.Asp540Glu) c.25260C>G (p.Asp8420Glu) c.25248C>G (p.Asp8416Glu) c.25239C>G (p.Asp8413Glu) c.25209C>G (p.Asp8403Glu) c.25245C>G (p.Asp8415Glu) c.25191C>G (p.Asp8397Glu) c.25188C>G (p.Asp8396Glu) c.25176C>G (p.Asp8392Glu) c.25119C>G (p.Asp8373Glu) c.25107C>G (p.Asp8369Glu) c.25104C>G (p.Asp8368Glu) c.25101C>G (p.Asp8367Glu) c.25257C>G (p.Asp8419Glu) c.25095C>G (p.Asp8365Glu) c.23535C>G (p.Asp7845Glu) c.23028C>G (p.Asp7676Glu) c.18495C>G (p.Asp6165Glu) c.1761C>G (p.Asp587Glu) c.25233C>G (p.Asp8411Glu) c.25182C>G (p.Asp8394Glu) c.25035C>G (p.Asp8345Glu) | |
| 6 | g.152141294G>T | CA366082264 | SYNE1 | c.1689C>A (p.Asp563Glu) c.25155C>A (p.Asp8385Glu) c.25011C>A (p.Asp8337Glu) c.557C>A c.890C>A c.891-1133C>A c.927C>A (p.Asp309Glu) c.23940C>A (p.Asp7980Glu) n.1903C>A c.3990C>A (p.Asp1330Glu) n.8847C>A c.3093C>A (p.Asp1031Glu) n.8739C>A n.1769C>A n.4177C>A n.1992C>A c.1620C>A (p.Asp540Glu) c.25260C>A (p.Asp8420Glu) c.25248C>A (p.Asp8416Glu) c.25239C>A (p.Asp8413Glu) c.25209C>A (p.Asp8403Glu) c.25245C>A (p.Asp8415Glu) c.25191C>A (p.Asp8397Glu) c.25188C>A (p.Asp8396Glu) c.25176C>A (p.Asp8392Glu) c.25119C>A (p.Asp8373Glu) c.25107C>A (p.Asp8369Glu) c.25104C>A (p.Asp8368Glu) c.25101C>A (p.Asp8367Glu) c.25257C>A (p.Asp8419Glu) c.25095C>A (p.Asp8365Glu) c.23535C>A (p.Asp7845Glu) c.23028C>A (p.Asp7676Glu) c.18495C>A (p.Asp6165Glu) c.1761C>A (p.Asp587Glu) c.25233C>A (p.Asp8411Glu) c.25182C>A (p.Asp8394Glu) c.25035C>A (p.Asp8345Glu) | |
| 6 | g.152141295T>A | CA366082268 | SYNE1 | c.1688A>T (p.Asp563Val) c.25154A>T (p.Asp8385Val) c.25010A>T (p.Asp8337Val) c.556A>T c.889A>T c.891-1134A>T c.926A>T (p.Asp309Val) c.23939A>T (p.Asp7980Val) n.1902A>T c.3989A>T (p.Asp1330Val) n.8846A>T c.3092A>T (p.Asp1031Val) n.8738A>T n.1768A>T n.4176A>T n.1991A>T c.1619A>T (p.Asp540Val) c.25259A>T (p.Asp8420Val) c.25247A>T (p.Asp8416Val) c.25238A>T (p.Asp8413Val) c.25208A>T (p.Asp8403Val) c.25244A>T (p.Asp8415Val) c.25190A>T (p.Asp8397Val) c.25187A>T (p.Asp8396Val) c.25175A>T (p.Asp8392Val) c.25118A>T (p.Asp8373Val) c.25106A>T (p.Asp8369Val) c.25103A>T (p.Asp8368Val) c.25100A>T (p.Asp8367Val) c.25256A>T (p.Asp8419Val) c.25094A>T (p.Asp8365Val) c.23534A>T (p.Asp7845Val) c.23027A>T (p.Asp7676Val) c.18494A>T (p.Asp6165Val) c.1760A>T (p.Asp587Val) c.25232A>T (p.Asp8411Val) c.25181A>T (p.Asp8394Val) c.25034A>T (p.Asp8345Val) | |
| 6 | g.152141295T>C | CA366082271 | SYNE1 | c.1688A>G (p.Asp563Gly) c.25154A>G (p.Asp8385Gly) c.25010A>G (p.Asp8337Gly) c.556A>G c.889A>G c.891-1134A>G c.926A>G (p.Asp309Gly) c.23939A>G (p.Asp7980Gly) n.1902A>G c.3989A>G (p.Asp1330Gly) n.8846A>G c.3092A>G (p.Asp1031Gly) n.8738A>G n.1768A>G n.4176A>G n.1991A>G c.1619A>G (p.Asp540Gly) c.25259A>G (p.Asp8420Gly) c.25247A>G (p.Asp8416Gly) c.25238A>G (p.Asp8413Gly) c.25208A>G (p.Asp8403Gly) c.25244A>G (p.Asp8415Gly) c.25190A>G (p.Asp8397Gly) c.25187A>G (p.Asp8396Gly) c.25175A>G (p.Asp8392Gly) c.25118A>G (p.Asp8373Gly) c.25106A>G (p.Asp8369Gly) c.25103A>G (p.Asp8368Gly) c.25100A>G (p.Asp8367Gly) c.25256A>G (p.Asp8419Gly) c.25094A>G (p.Asp8365Gly) c.23534A>G (p.Asp7845Gly) c.23027A>G (p.Asp7676Gly) c.18494A>G (p.Asp6165Gly) c.1760A>G (p.Asp587Gly) c.25232A>G (p.Asp8411Gly) c.25181A>G (p.Asp8394Gly) c.25034A>G (p.Asp8345Gly) | gnomAD v4 |
| 6 | g.152141295T>G | CA366082273 | SYNE1 | c.1688A>C (p.Asp563Ala) c.25154A>C (p.Asp8385Ala) c.25010A>C (p.Asp8337Ala) c.556A>C c.889A>C c.891-1134A>C c.926A>C (p.Asp309Ala) c.23939A>C (p.Asp7980Ala) n.1902A>C c.3989A>C (p.Asp1330Ala) n.8846A>C c.3092A>C (p.Asp1031Ala) n.8738A>C n.1768A>C n.4176A>C n.1991A>C c.1619A>C (p.Asp540Ala) c.25259A>C (p.Asp8420Ala) c.25247A>C (p.Asp8416Ala) c.25238A>C (p.Asp8413Ala) c.25208A>C (p.Asp8403Ala) c.25244A>C (p.Asp8415Ala) c.25190A>C (p.Asp8397Ala) c.25187A>C (p.Asp8396Ala) c.25175A>C (p.Asp8392Ala) c.25118A>C (p.Asp8373Ala) c.25106A>C (p.Asp8369Ala) c.25103A>C (p.Asp8368Ala) c.25100A>C (p.Asp8367Ala) c.25256A>C (p.Asp8419Ala) c.25094A>C (p.Asp8365Ala) c.23534A>C (p.Asp7845Ala) c.23027A>C (p.Asp7676Ala) c.18494A>C (p.Asp6165Ala) c.1760A>C (p.Asp587Ala) c.25232A>C (p.Asp8411Ala) c.25181A>C (p.Asp8394Ala) c.25034A>C (p.Asp8345Ala) | |
| 6 | g.152141296C>A | CA366082275 | SYNE1 | c.1687G>T (p.Asp563Tyr) c.25153G>T (p.Asp8385Tyr) c.25009G>T (p.Asp8337Tyr) c.555G>T c.888G>T c.891-1135G>T c.925G>T (p.Asp309Tyr) c.23938G>T (p.Asp7980Tyr) n.1901G>T c.3988G>T (p.Asp1330Tyr) n.8845G>T c.3091G>T (p.Asp1031Tyr) n.8737G>T n.1767G>T n.4175G>T n.1990G>T c.1618G>T (p.Asp540Tyr) c.25258G>T (p.Asp8420Tyr) c.25246G>T (p.Asp8416Tyr) c.25237G>T (p.Asp8413Tyr) c.25207G>T (p.Asp8403Tyr) c.25243G>T (p.Asp8415Tyr) c.25189G>T (p.Asp8397Tyr) c.25186G>T (p.Asp8396Tyr) c.25174G>T (p.Asp8392Tyr) c.25117G>T (p.Asp8373Tyr) c.25105G>T (p.Asp8369Tyr) c.25102G>T (p.Asp8368Tyr) c.25099G>T (p.Asp8367Tyr) c.25255G>T (p.Asp8419Tyr) c.25093G>T (p.Asp8365Tyr) c.23533G>T (p.Asp7845Tyr) c.23026G>T (p.Asp7676Tyr) c.18493G>T (p.Asp6165Tyr) c.1759G>T (p.Asp587Tyr) c.25231G>T (p.Asp8411Tyr) c.25180G>T (p.Asp8394Tyr) c.25033G>T (p.Asp8345Tyr) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152141296C>G | CA366082276 | SYNE1 | c.1687G>C (p.Asp563His) c.25153G>C (p.Asp8385His) c.25009G>C (p.Asp8337His) c.555G>C c.888G>C c.891-1135G>C c.925G>C (p.Asp309His) c.23938G>C (p.Asp7980His) n.1901G>C c.3988G>C (p.Asp1330His) n.8845G>C c.3091G>C (p.Asp1031His) n.8737G>C n.1767G>C n.4175G>C n.1990G>C c.1618G>C (p.Asp540His) c.25258G>C (p.Asp8420His) c.25246G>C (p.Asp8416His) c.25237G>C (p.Asp8413His) c.25207G>C (p.Asp8403His) c.25243G>C (p.Asp8415His) c.25189G>C (p.Asp8397His) c.25186G>C (p.Asp8396His) c.25174G>C (p.Asp8392His) c.25117G>C (p.Asp8373His) c.25105G>C (p.Asp8369His) c.25102G>C (p.Asp8368His) c.25099G>C (p.Asp8367His) c.25255G>C (p.Asp8419His) c.25093G>C (p.Asp8365His) c.23533G>C (p.Asp7845His) c.23026G>C (p.Asp7676His) c.18493G>C (p.Asp6165His) c.1759G>C (p.Asp587His) c.25231G>C (p.Asp8411His) c.25180G>C (p.Asp8394His) c.25033G>C (p.Asp8345His) | |
| 6 | g.152141296C>T | CA366082277 | SYNE1 | c.1687G>A (p.Asp563Asn) c.25153G>A (p.Asp8385Asn) c.25009G>A (p.Asp8337Asn) c.555G>A c.888G>A c.891-1135G>A c.925G>A (p.Asp309Asn) c.23938G>A (p.Asp7980Asn) n.1901G>A c.3988G>A (p.Asp1330Asn) n.8845G>A c.3091G>A (p.Asp1031Asn) n.8737G>A n.1767G>A n.4175G>A n.1990G>A c.1618G>A (p.Asp540Asn) c.25258G>A (p.Asp8420Asn) c.25246G>A (p.Asp8416Asn) c.25237G>A (p.Asp8413Asn) c.25207G>A (p.Asp8403Asn) c.25243G>A (p.Asp8415Asn) c.25189G>A (p.Asp8397Asn) c.25186G>A (p.Asp8396Asn) c.25174G>A (p.Asp8392Asn) c.25117G>A (p.Asp8373Asn) c.25105G>A (p.Asp8369Asn) c.25102G>A (p.Asp8368Asn) c.25099G>A (p.Asp8367Asn) c.25255G>A (p.Asp8419Asn) c.25093G>A (p.Asp8365Asn) c.23533G>A (p.Asp7845Asn) c.23026G>A (p.Asp7676Asn) c.18493G>A (p.Asp6165Asn) c.1759G>A (p.Asp587Asn) c.25231G>A (p.Asp8411Asn) c.25180G>A (p.Asp8394Asn) c.25033G>A (p.Asp8345Asn) | |
| 6 | g.152141297T>A | CA452747130 | SYNE1 | c.1686A>T (p.Ile562=) c.25152A>T (p.Ile8384=) c.25008A>T (p.Ile8336=) c.554A>T c.887A>T c.891-1136A>T c.924A>T (p.Ile308=) c.23937A>T (p.Ile7979=) n.1900A>T c.3987A>T (p.Ile1329=) n.8844A>T c.3090A>T (p.Ile1030=) n.8736A>T n.1766A>T n.4174A>T n.1989A>T c.1617A>T (p.Ile539=) c.25257A>T (p.Ile8419=) c.25245A>T (p.Ile8415=) c.25236A>T (p.Ile8412=) c.25206A>T (p.Ile8402=) c.25242A>T (p.Ile8414=) c.25188A>T (p.Ile8396=) c.25185A>T (p.Ile8395=) c.25173A>T (p.Ile8391=) c.25116A>T (p.Ile8372=) c.25104A>T (p.Ile8368=) c.25101A>T (p.Ile8367=) c.25098A>T (p.Ile8366=) c.25254A>T (p.Ile8418=) c.25092A>T (p.Ile8364=) c.23532A>T (p.Ile7844=) c.23025A>T (p.Ile7675=) c.18492A>T (p.Ile6164=) c.1758A>T (p.Ile586=) c.25230A>T (p.Ile8410=) c.25179A>T (p.Ile8393=) c.25032A>T (p.Ile8344=) | |
| 6 | g.152141297T>C | CA366082280 | SYNE1 | c.1686A>G (p.Ile562Met) c.25152A>G (p.Ile8384Met) c.25008A>G (p.Ile8336Met) c.554A>G c.887A>G c.891-1136A>G c.924A>G (p.Ile308Met) c.23937A>G (p.Ile7979Met) n.1900A>G c.3987A>G (p.Ile1329Met) n.8844A>G c.3090A>G (p.Ile1030Met) n.8736A>G n.1766A>G n.4174A>G n.1989A>G c.1617A>G (p.Ile539Met) c.25257A>G (p.Ile8419Met) c.25245A>G (p.Ile8415Met) c.25236A>G (p.Ile8412Met) c.25206A>G (p.Ile8402Met) c.25242A>G (p.Ile8414Met) c.25188A>G (p.Ile8396Met) c.25185A>G (p.Ile8395Met) c.25173A>G (p.Ile8391Met) c.25116A>G (p.Ile8372Met) c.25104A>G (p.Ile8368Met) c.25101A>G (p.Ile8367Met) c.25098A>G (p.Ile8366Met) c.25254A>G (p.Ile8418Met) c.25092A>G (p.Ile8364Met) c.23532A>G (p.Ile7844Met) c.23025A>G (p.Ile7675Met) c.18492A>G (p.Ile6164Met) c.1758A>G (p.Ile586Met) c.25230A>G (p.Ile8410Met) c.25179A>G (p.Ile8393Met) c.25032A>G (p.Ile8344Met) | |
| 6 | g.152141297T>G | CA452747132 | SYNE1 | c.1686A>C (p.Ile562=) c.25152A>C (p.Ile8384=) c.25008A>C (p.Ile8336=) c.554A>C c.887A>C c.891-1136A>C c.924A>C (p.Ile308=) c.23937A>C (p.Ile7979=) n.1900A>C c.3987A>C (p.Ile1329=) n.8844A>C c.3090A>C (p.Ile1030=) n.8736A>C n.1766A>C n.4174A>C n.1989A>C c.1617A>C (p.Ile539=) c.25257A>C (p.Ile8419=) c.25245A>C (p.Ile8415=) c.25236A>C (p.Ile8412=) c.25206A>C (p.Ile8402=) c.25242A>C (p.Ile8414=) c.25188A>C (p.Ile8396=) c.25185A>C (p.Ile8395=) c.25173A>C (p.Ile8391=) c.25116A>C (p.Ile8372=) c.25104A>C (p.Ile8368=) c.25101A>C (p.Ile8367=) c.25098A>C (p.Ile8366=) c.25254A>C (p.Ile8418=) c.25092A>C (p.Ile8364=) c.23532A>C (p.Ile7844=) c.23025A>C (p.Ile7675=) c.18492A>C (p.Ile6164=) c.1758A>C (p.Ile586=) c.25230A>C (p.Ile8410=) c.25179A>C (p.Ile8393=) c.25032A>C (p.Ile8344=) | |
| 6 | g.152141298A>C | CA366082283 | SYNE1 | c.1685T>G (p.Ile562Arg) c.25151T>G (p.Ile8384Arg) c.25007T>G (p.Ile8336Arg) c.553T>G c.886T>G c.891-1137T>G c.923T>G (p.Ile308Arg) c.23936T>G (p.Ile7979Arg) n.1899T>G c.3986T>G (p.Ile1329Arg) n.8843T>G c.3089T>G (p.Ile1030Arg) n.8735T>G n.1765T>G n.4173T>G n.1988T>G c.1616T>G (p.Ile539Arg) c.25256T>G (p.Ile8419Arg) c.25244T>G (p.Ile8415Arg) c.25235T>G (p.Ile8412Arg) c.25205T>G (p.Ile8402Arg) c.25241T>G (p.Ile8414Arg) c.25187T>G (p.Ile8396Arg) c.25184T>G (p.Ile8395Arg) c.25172T>G (p.Ile8391Arg) c.25115T>G (p.Ile8372Arg) c.25103T>G (p.Ile8368Arg) c.25100T>G (p.Ile8367Arg) c.25097T>G (p.Ile8366Arg) c.25253T>G (p.Ile8418Arg) c.25091T>G (p.Ile8364Arg) c.23531T>G (p.Ile7844Arg) c.23024T>G (p.Ile7675Arg) c.18491T>G (p.Ile6164Arg) c.1757T>G (p.Ile586Arg) c.25229T>G (p.Ile8410Arg) c.25178T>G (p.Ile8393Arg) c.25031T>G (p.Ile8344Arg) | gnomAD v4 |
| 6 | g.152141298A>G | CA366082284 | SYNE1 | c.1685T>C (p.Ile562Thr) c.25151T>C (p.Ile8384Thr) c.25007T>C (p.Ile8336Thr) c.553T>C c.886T>C c.891-1137T>C c.923T>C (p.Ile308Thr) c.23936T>C (p.Ile7979Thr) n.1899T>C c.3986T>C (p.Ile1329Thr) n.8843T>C c.3089T>C (p.Ile1030Thr) n.8735T>C n.1765T>C n.4173T>C n.1988T>C c.1616T>C (p.Ile539Thr) c.25256T>C (p.Ile8419Thr) c.25244T>C (p.Ile8415Thr) c.25235T>C (p.Ile8412Thr) c.25205T>C (p.Ile8402Thr) c.25241T>C (p.Ile8414Thr) c.25187T>C (p.Ile8396Thr) c.25184T>C (p.Ile8395Thr) c.25172T>C (p.Ile8391Thr) c.25115T>C (p.Ile8372Thr) c.25103T>C (p.Ile8368Thr) c.25100T>C (p.Ile8367Thr) c.25097T>C (p.Ile8366Thr) c.25253T>C (p.Ile8418Thr) c.25091T>C (p.Ile8364Thr) c.23531T>C (p.Ile7844Thr) c.23024T>C (p.Ile7675Thr) c.18491T>C (p.Ile6164Thr) c.1757T>C (p.Ile586Thr) c.25229T>C (p.Ile8410Thr) c.25178T>C (p.Ile8393Thr) c.25031T>C (p.Ile8344Thr) | ClinVar gnomAD v4 |
| 6 | g.152141298A>T | CA366082286 | SYNE1 | c.1685T>A (p.Ile562Lys) c.25151T>A (p.Ile8384Lys) c.25007T>A (p.Ile8336Lys) c.553T>A c.886T>A c.891-1137T>A c.923T>A (p.Ile308Lys) c.23936T>A (p.Ile7979Lys) n.1899T>A c.3986T>A (p.Ile1329Lys) n.8843T>A c.3089T>A (p.Ile1030Lys) n.8735T>A n.1765T>A n.4173T>A n.1988T>A c.1616T>A (p.Ile539Lys) c.25256T>A (p.Ile8419Lys) c.25244T>A (p.Ile8415Lys) c.25235T>A (p.Ile8412Lys) c.25205T>A (p.Ile8402Lys) c.25241T>A (p.Ile8414Lys) c.25187T>A (p.Ile8396Lys) c.25184T>A (p.Ile8395Lys) c.25172T>A (p.Ile8391Lys) c.25115T>A (p.Ile8372Lys) c.25103T>A (p.Ile8368Lys) c.25100T>A (p.Ile8367Lys) c.25097T>A (p.Ile8366Lys) c.25253T>A (p.Ile8418Lys) c.25091T>A (p.Ile8364Lys) c.23531T>A (p.Ile7844Lys) c.23024T>A (p.Ile7675Lys) c.18491T>A (p.Ile6164Lys) c.1757T>A (p.Ile586Lys) c.25229T>A (p.Ile8410Lys) c.25178T>A (p.Ile8393Lys) c.25031T>A (p.Ile8344Lys) | |
| 6 | g.152141299T>A | CA366082288 | SYNE1 | c.1684A>T (p.Ile562Leu) c.25150A>T (p.Ile8384Leu) c.25006A>T (p.Ile8336Leu) c.552A>T c.885A>T c.891-1138A>T c.922A>T (p.Ile308Leu) c.23935A>T (p.Ile7979Leu) n.1898A>T c.3985A>T (p.Ile1329Leu) n.8842A>T c.3088A>T (p.Ile1030Leu) n.8734A>T n.1764A>T n.4172A>T n.1987A>T c.1615A>T (p.Ile539Leu) c.25255A>T (p.Ile8419Leu) c.25243A>T (p.Ile8415Leu) c.25234A>T (p.Ile8412Leu) c.25204A>T (p.Ile8402Leu) c.25240A>T (p.Ile8414Leu) c.25186A>T (p.Ile8396Leu) c.25183A>T (p.Ile8395Leu) c.25171A>T (p.Ile8391Leu) c.25114A>T (p.Ile8372Leu) c.25102A>T (p.Ile8368Leu) c.25099A>T (p.Ile8367Leu) c.25096A>T (p.Ile8366Leu) c.25252A>T (p.Ile8418Leu) c.25090A>T (p.Ile8364Leu) c.23530A>T (p.Ile7844Leu) c.23023A>T (p.Ile7675Leu) c.18490A>T (p.Ile6164Leu) c.1756A>T (p.Ile586Leu) c.25228A>T (p.Ile8410Leu) c.25177A>T (p.Ile8393Leu) c.25030A>T (p.Ile8344Leu) | |
| 6 | g.152141299T>C | CA366082289 | SYNE1 | c.1684A>G (p.Ile562Val) c.25150A>G (p.Ile8384Val) c.25006A>G (p.Ile8336Val) c.552A>G c.885A>G c.891-1138A>G c.922A>G (p.Ile308Val) c.23935A>G (p.Ile7979Val) n.1898A>G c.3985A>G (p.Ile1329Val) n.8842A>G c.3088A>G (p.Ile1030Val) n.8734A>G n.1764A>G n.4172A>G n.1987A>G c.1615A>G (p.Ile539Val) c.25255A>G (p.Ile8419Val) c.25243A>G (p.Ile8415Val) c.25234A>G (p.Ile8412Val) c.25204A>G (p.Ile8402Val) c.25240A>G (p.Ile8414Val) c.25186A>G (p.Ile8396Val) c.25183A>G (p.Ile8395Val) c.25171A>G (p.Ile8391Val) c.25114A>G (p.Ile8372Val) c.25102A>G (p.Ile8368Val) c.25099A>G (p.Ile8367Val) c.25096A>G (p.Ile8366Val) c.25252A>G (p.Ile8418Val) c.25090A>G (p.Ile8364Val) c.23530A>G (p.Ile7844Val) c.23023A>G (p.Ile7675Val) c.18490A>G (p.Ile6164Val) c.1756A>G (p.Ile586Val) c.25228A>G (p.Ile8410Val) c.25177A>G (p.Ile8393Val) c.25030A>G (p.Ile8344Val) | ClinVar dbSNP |
| 6 | g.152141299T>G | CA366082291 | SYNE1 | c.1684A>C (p.Ile562Leu) c.25150A>C (p.Ile8384Leu) c.25006A>C (p.Ile8336Leu) c.552A>C c.885A>C c.891-1138A>C c.922A>C (p.Ile308Leu) c.23935A>C (p.Ile7979Leu) n.1898A>C c.3985A>C (p.Ile1329Leu) n.8842A>C c.3088A>C (p.Ile1030Leu) n.8734A>C n.1764A>C n.4172A>C n.1987A>C c.1615A>C (p.Ile539Leu) c.25255A>C (p.Ile8419Leu) c.25243A>C (p.Ile8415Leu) c.25234A>C (p.Ile8412Leu) c.25204A>C (p.Ile8402Leu) c.25240A>C (p.Ile8414Leu) c.25186A>C (p.Ile8396Leu) c.25183A>C (p.Ile8395Leu) c.25171A>C (p.Ile8391Leu) c.25114A>C (p.Ile8372Leu) c.25102A>C (p.Ile8368Leu) c.25099A>C (p.Ile8367Leu) c.25096A>C (p.Ile8366Leu) c.25252A>C (p.Ile8418Leu) c.25090A>C (p.Ile8364Leu) c.23530A>C (p.Ile7844Leu) c.23023A>C (p.Ile7675Leu) c.18490A>C (p.Ile6164Leu) c.1756A>C (p.Ile586Leu) c.25228A>C (p.Ile8410Leu) c.25177A>C (p.Ile8393Leu) c.25030A>C (p.Ile8344Leu) | |
| 6 | g.152141299T= | CA1673207739 | SYNE1 | c.1684A= (p.Ile562=) c.25150A= (p.Ile8384=) c.25006A= (p.Ile8336=) c.552A= c.885A= c.891-1138A= c.922A= (p.Ile308=) c.23935A= (p.Ile7979=) n.1898A= c.3985A= (p.Ile1329=) n.8842A= c.3088A= (p.Ile1030=) n.8734A= n.1764A= n.4172A= n.1987A= c.1615A= (p.Ile539=) c.25255A= (p.Ile8419=) c.25243A= (p.Ile8415=) c.25234A= (p.Ile8412=) c.25204A= (p.Ile8402=) c.25240A= (p.Ile8414=) c.25186A= (p.Ile8396=) c.25183A= (p.Ile8395=) c.25171A= (p.Ile8391=) c.25114A= (p.Ile8372=) c.25102A= (p.Ile8368=) c.25099A= (p.Ile8367=) c.25096A= (p.Ile8366=) c.25252A= (p.Ile8418=) c.25090A= (p.Ile8364=) c.23530A= (p.Ile7844=) c.23023A= (p.Ile7675=) c.18490A= (p.Ile6164=) c.1756A= (p.Ile586=) c.25228A= (p.Ile8410=) c.25177A= (p.Ile8393=) c.25030A= (p.Ile8344=) | |
| 6 | g.152141300A>C | CA366082294 | SYNE1 | c.1683T>G (p.Ser561Arg) c.25149T>G (p.Ser8383Arg) c.25005T>G (p.Ser8335Arg) c.551T>G c.884T>G c.891-1139T>G c.921T>G (p.Ser307Arg) c.23934T>G (p.Ser7978Arg) n.1897T>G c.3984T>G (p.Ser1328Arg) n.8841T>G c.3087T>G (p.Ser1029Arg) n.8733T>G n.1763T>G n.4171T>G n.1986T>G c.1614T>G (p.Ser538Arg) c.25254T>G (p.Ser8418Arg) c.25242T>G (p.Ser8414Arg) c.25233T>G (p.Ser8411Arg) c.25203T>G (p.Ser8401Arg) c.25239T>G (p.Ser8413Arg) c.25185T>G (p.Ser8395Arg) c.25182T>G (p.Ser8394Arg) c.25170T>G (p.Ser8390Arg) c.25113T>G (p.Ser8371Arg) c.25101T>G (p.Ser8367Arg) c.25098T>G (p.Ser8366Arg) c.25095T>G (p.Ser8365Arg) c.25251T>G (p.Ser8417Arg) c.25089T>G (p.Ser8363Arg) c.23529T>G (p.Ser7843Arg) c.23022T>G (p.Ser7674Arg) c.18489T>G (p.Ser6163Arg) c.1755T>G (p.Ser585Arg) c.25227T>G (p.Ser8409Arg) c.25176T>G (p.Ser8392Arg) c.25029T>G (p.Ser8343Arg) | |
| 6 | g.152141300A>G | CA452747134 | SYNE1 | c.1683T>C (p.Ser561=) c.25149T>C (p.Ser8383=) c.25005T>C (p.Ser8335=) c.551T>C c.884T>C c.891-1139T>C c.921T>C (p.Ser307=) c.23934T>C (p.Ser7978=) n.1897T>C c.3984T>C (p.Ser1328=) n.8841T>C c.3087T>C (p.Ser1029=) n.8733T>C n.1763T>C n.4171T>C n.1986T>C c.1614T>C (p.Ser538=) c.25254T>C (p.Ser8418=) c.25242T>C (p.Ser8414=) c.25233T>C (p.Ser8411=) c.25203T>C (p.Ser8401=) c.25239T>C (p.Ser8413=) c.25185T>C (p.Ser8395=) c.25182T>C (p.Ser8394=) c.25170T>C (p.Ser8390=) c.25113T>C (p.Ser8371=) c.25101T>C (p.Ser8367=) c.25098T>C (p.Ser8366=) c.25095T>C (p.Ser8365=) c.25251T>C (p.Ser8417=) c.25089T>C (p.Ser8363=) c.23529T>C (p.Ser7843=) c.23022T>C (p.Ser7674=) c.18489T>C (p.Ser6163=) c.1755T>C (p.Ser585=) c.25227T>C (p.Ser8409=) c.25176T>C (p.Ser8392=) c.25029T>C (p.Ser8343=) | |
| 6 | g.152141300A>T | CA366082293 | SYNE1 | c.1683T>A (p.Ser561Arg) c.25149T>A (p.Ser8383Arg) c.25005T>A (p.Ser8335Arg) c.551T>A c.884T>A c.891-1139T>A c.921T>A (p.Ser307Arg) c.23934T>A (p.Ser7978Arg) n.1897T>A c.3984T>A (p.Ser1328Arg) n.8841T>A c.3087T>A (p.Ser1029Arg) n.8733T>A n.1763T>A n.4171T>A n.1986T>A c.1614T>A (p.Ser538Arg) c.25254T>A (p.Ser8418Arg) c.25242T>A (p.Ser8414Arg) c.25233T>A (p.Ser8411Arg) c.25203T>A (p.Ser8401Arg) c.25239T>A (p.Ser8413Arg) c.25185T>A (p.Ser8395Arg) c.25182T>A (p.Ser8394Arg) c.25170T>A (p.Ser8390Arg) c.25113T>A (p.Ser8371Arg) c.25101T>A (p.Ser8367Arg) c.25098T>A (p.Ser8366Arg) c.25095T>A (p.Ser8365Arg) c.25251T>A (p.Ser8417Arg) c.25089T>A (p.Ser8363Arg) c.23529T>A (p.Ser7843Arg) c.23022T>A (p.Ser7674Arg) c.18489T>A (p.Ser6163Arg) c.1755T>A (p.Ser585Arg) c.25227T>A (p.Ser8409Arg) c.25176T>A (p.Ser8392Arg) c.25029T>A (p.Ser8343Arg) | |
| 6 | g.152141301C>A | CA366082297 | SYNE1 | c.1682G>T (p.Ser561Ile) c.25148G>T (p.Ser8383Ile) c.25004G>T (p.Ser8335Ile) c.550G>T c.883G>T c.891-1140G>T c.920G>T (p.Ser307Ile) c.23933G>T (p.Ser7978Ile) n.1896G>T c.3983G>T (p.Ser1328Ile) n.8840G>T c.3086G>T (p.Ser1029Ile) n.8732G>T n.1762G>T n.4170G>T n.1985G>T c.1613G>T (p.Ser538Ile) c.25253G>T (p.Ser8418Ile) c.25241G>T (p.Ser8414Ile) c.25232G>T (p.Ser8411Ile) c.25202G>T (p.Ser8401Ile) c.25238G>T (p.Ser8413Ile) c.25184G>T (p.Ser8395Ile) c.25181G>T (p.Ser8394Ile) c.25169G>T (p.Ser8390Ile) c.25112G>T (p.Ser8371Ile) c.25100G>T (p.Ser8367Ile) c.25097G>T (p.Ser8366Ile) c.25094G>T (p.Ser8365Ile) c.25250G>T (p.Ser8417Ile) c.25088G>T (p.Ser8363Ile) c.23528G>T (p.Ser7843Ile) c.23021G>T (p.Ser7674Ile) c.18488G>T (p.Ser6163Ile) c.1754G>T (p.Ser585Ile) c.25226G>T (p.Ser8409Ile) c.25175G>T (p.Ser8392Ile) c.25028G>T (p.Ser8343Ile) | |
| 6 | g.152141301C= | CA1673207741 | SYNE1 | c.1682G= (p.Ser561=) c.25148G= (p.Ser8383=) c.25004G= (p.Ser8335=) c.550G= c.883G= c.891-1140G= c.920G= (p.Ser307=) c.23933G= (p.Ser7978=) n.1896G= c.3983G= (p.Ser1328=) n.8840G= c.3086G= (p.Ser1029=) n.8732G= n.1762G= n.4170G= n.1985G= c.1613G= (p.Ser538=) c.25253G= (p.Ser8418=) c.25241G= (p.Ser8414=) c.25232G= (p.Ser8411=) c.25202G= (p.Ser8401=) c.25238G= (p.Ser8413=) c.25184G= (p.Ser8395=) c.25181G= (p.Ser8394=) c.25169G= (p.Ser8390=) c.25112G= (p.Ser8371=) c.25100G= (p.Ser8367=) c.25097G= (p.Ser8366=) c.25094G= (p.Ser8365=) c.25250G= (p.Ser8417=) c.25088G= (p.Ser8363=) c.23528G= (p.Ser7843=) c.23021G= (p.Ser7674=) c.18488G= (p.Ser6163=) c.1754G= (p.Ser585=) c.25226G= (p.Ser8409=) c.25175G= (p.Ser8392=) c.25028G= (p.Ser8343=) | |
| 6 | g.152141301C>G | CA4052915 | SYNE1 | c.1682G>C (p.Ser561Thr) c.25148G>C (p.Ser8383Thr) c.25004G>C (p.Ser8335Thr) c.550G>C c.883G>C c.891-1140G>C c.920G>C (p.Ser307Thr) c.23933G>C (p.Ser7978Thr) n.1896G>C c.3983G>C (p.Ser1328Thr) n.8840G>C c.3086G>C (p.Ser1029Thr) n.8732G>C n.1762G>C n.4170G>C n.1985G>C c.1613G>C (p.Ser538Thr) c.25253G>C (p.Ser8418Thr) c.25241G>C (p.Ser8414Thr) c.25232G>C (p.Ser8411Thr) c.25202G>C (p.Ser8401Thr) c.25238G>C (p.Ser8413Thr) c.25184G>C (p.Ser8395Thr) c.25181G>C (p.Ser8394Thr) c.25169G>C (p.Ser8390Thr) c.25112G>C (p.Ser8371Thr) c.25100G>C (p.Ser8367Thr) c.25097G>C (p.Ser8366Thr) c.25094G>C (p.Ser8365Thr) c.25250G>C (p.Ser8417Thr) c.25088G>C (p.Ser8363Thr) c.23528G>C (p.Ser7843Thr) c.23021G>C (p.Ser7674Thr) c.18488G>C (p.Ser6163Thr) c.1754G>C (p.Ser585Thr) c.25226G>C (p.Ser8409Thr) c.25175G>C (p.Ser8392Thr) c.25028G>C (p.Ser8343Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141301C>T | CA366082299 | SYNE1 | c.1682G>A (p.Ser561Asn) c.25148G>A (p.Ser8383Asn) c.25004G>A (p.Ser8335Asn) c.550G>A c.883G>A c.891-1140G>A c.920G>A (p.Ser307Asn) c.23933G>A (p.Ser7978Asn) n.1896G>A c.3983G>A (p.Ser1328Asn) n.8840G>A c.3086G>A (p.Ser1029Asn) n.8732G>A n.1762G>A n.4170G>A n.1985G>A c.1613G>A (p.Ser538Asn) c.25253G>A (p.Ser8418Asn) c.25241G>A (p.Ser8414Asn) c.25232G>A (p.Ser8411Asn) c.25202G>A (p.Ser8401Asn) c.25238G>A (p.Ser8413Asn) c.25184G>A (p.Ser8395Asn) c.25181G>A (p.Ser8394Asn) c.25169G>A (p.Ser8390Asn) c.25112G>A (p.Ser8371Asn) c.25100G>A (p.Ser8367Asn) c.25097G>A (p.Ser8366Asn) c.25094G>A (p.Ser8365Asn) c.25250G>A (p.Ser8417Asn) c.25088G>A (p.Ser8363Asn) c.23528G>A (p.Ser7843Asn) c.23021G>A (p.Ser7674Asn) c.18488G>A (p.Ser6163Asn) c.1754G>A (p.Ser585Asn) c.25226G>A (p.Ser8409Asn) c.25175G>A (p.Ser8392Asn) c.25028G>A (p.Ser8343Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152141302T>A | CA366082301 | SYNE1 | c.1681A>T (p.Ser561Cys) c.25147A>T (p.Ser8383Cys) c.25003A>T (p.Ser8335Cys) c.549A>T c.882A>T c.891-1141A>T c.919A>T (p.Ser307Cys) c.23932A>T (p.Ser7978Cys) n.1895A>T c.3982A>T (p.Ser1328Cys) n.8839A>T c.3085A>T (p.Ser1029Cys) n.8731A>T n.1761A>T n.4169A>T n.1984A>T c.1612A>T (p.Ser538Cys) c.25252A>T (p.Ser8418Cys) c.25240A>T (p.Ser8414Cys) c.25231A>T (p.Ser8411Cys) c.25201A>T (p.Ser8401Cys) c.25237A>T (p.Ser8413Cys) c.25183A>T (p.Ser8395Cys) c.25180A>T (p.Ser8394Cys) c.25168A>T (p.Ser8390Cys) c.25111A>T (p.Ser8371Cys) c.25099A>T (p.Ser8367Cys) c.25096A>T (p.Ser8366Cys) c.25093A>T (p.Ser8365Cys) c.25249A>T (p.Ser8417Cys) c.25087A>T (p.Ser8363Cys) c.23527A>T (p.Ser7843Cys) c.23020A>T (p.Ser7674Cys) c.18487A>T (p.Ser6163Cys) c.1753A>T (p.Ser585Cys) c.25225A>T (p.Ser8409Cys) c.25174A>T (p.Ser8392Cys) c.25027A>T (p.Ser8343Cys) | |
| 6 | g.152141302T>C | CA366082303 | SYNE1 | c.1681A>G (p.Ser561Gly) c.25147A>G (p.Ser8383Gly) c.25003A>G (p.Ser8335Gly) c.549A>G c.882A>G c.891-1141A>G c.919A>G (p.Ser307Gly) c.23932A>G (p.Ser7978Gly) n.1895A>G c.3982A>G (p.Ser1328Gly) n.8839A>G c.3085A>G (p.Ser1029Gly) n.8731A>G n.1761A>G n.4169A>G n.1984A>G c.1612A>G (p.Ser538Gly) c.25252A>G (p.Ser8418Gly) c.25240A>G (p.Ser8414Gly) c.25231A>G (p.Ser8411Gly) c.25201A>G (p.Ser8401Gly) c.25237A>G (p.Ser8413Gly) c.25183A>G (p.Ser8395Gly) c.25180A>G (p.Ser8394Gly) c.25168A>G (p.Ser8390Gly) c.25111A>G (p.Ser8371Gly) c.25099A>G (p.Ser8367Gly) c.25096A>G (p.Ser8366Gly) c.25093A>G (p.Ser8365Gly) c.25249A>G (p.Ser8417Gly) c.25087A>G (p.Ser8363Gly) c.23527A>G (p.Ser7843Gly) c.23020A>G (p.Ser7674Gly) c.18487A>G (p.Ser6163Gly) c.1753A>G (p.Ser585Gly) c.25225A>G (p.Ser8409Gly) c.25174A>G (p.Ser8392Gly) c.25027A>G (p.Ser8343Gly) | |
| 6 | g.152141302T>G | CA366082305 | SYNE1 | c.1681A>C (p.Ser561Arg) c.25147A>C (p.Ser8383Arg) c.25003A>C (p.Ser8335Arg) c.549A>C c.882A>C c.891-1141A>C c.919A>C (p.Ser307Arg) c.23932A>C (p.Ser7978Arg) n.1895A>C c.3982A>C (p.Ser1328Arg) n.8839A>C c.3085A>C (p.Ser1029Arg) n.8731A>C n.1761A>C n.4169A>C n.1984A>C c.1612A>C (p.Ser538Arg) c.25252A>C (p.Ser8418Arg) c.25240A>C (p.Ser8414Arg) c.25231A>C (p.Ser8411Arg) c.25201A>C (p.Ser8401Arg) c.25237A>C (p.Ser8413Arg) c.25183A>C (p.Ser8395Arg) c.25180A>C (p.Ser8394Arg) c.25168A>C (p.Ser8390Arg) c.25111A>C (p.Ser8371Arg) c.25099A>C (p.Ser8367Arg) c.25096A>C (p.Ser8366Arg) c.25093A>C (p.Ser8365Arg) c.25249A>C (p.Ser8417Arg) c.25087A>C (p.Ser8363Arg) c.23527A>C (p.Ser7843Arg) c.23020A>C (p.Ser7674Arg) c.18487A>C (p.Ser6163Arg) c.1753A>C (p.Ser585Arg) c.25225A>C (p.Ser8409Arg) c.25174A>C (p.Ser8392Arg) c.25027A>C (p.Ser8343Arg) | |
| 6 | g.152141303G>A | CA4052916 | SYNE1 | c.1680C>T (p.Ser560=) c.25146C>T (p.Ser8382=) c.25002C>T (p.Ser8334=) c.548C>T c.881C>T c.891-1142C>T c.918C>T (p.Ser306=) c.23931C>T (p.Ser7977=) n.1894C>T c.3981C>T (p.Ser1327=) n.8838C>T c.3084C>T (p.Ser1028=) n.8730C>T n.1760C>T n.4168C>T n.1983C>T c.1611C>T (p.Ser537=) c.25251C>T (p.Ser8417=) c.25239C>T (p.Ser8413=) c.25230C>T (p.Ser8410=) c.25200C>T (p.Ser8400=) c.25236C>T (p.Ser8412=) c.25182C>T (p.Ser8394=) c.25179C>T (p.Ser8393=) c.25167C>T (p.Ser8389=) c.25110C>T (p.Ser8370=) c.25098C>T (p.Ser8366=) c.25095C>T (p.Ser8365=) c.25092C>T (p.Ser8364=) c.25248C>T (p.Ser8416=) c.25086C>T (p.Ser8362=) c.23526C>T (p.Ser7842=) c.23019C>T (p.Ser7673=) c.18486C>T (p.Ser6162=) c.1752C>T (p.Ser584=) c.25224C>T (p.Ser8408=) c.25173C>T (p.Ser8391=) c.25026C>T (p.Ser8342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152141303G>C | CA366082308 | SYNE1 | c.1680C>G (p.Ser560Arg) c.25146C>G (p.Ser8382Arg) c.25002C>G (p.Ser8334Arg) c.548C>G c.881C>G c.891-1142C>G c.918C>G (p.Ser306Arg) c.23931C>G (p.Ser7977Arg) n.1894C>G c.3981C>G (p.Ser1327Arg) n.8838C>G c.3084C>G (p.Ser1028Arg) n.8730C>G n.1760C>G n.4168C>G n.1983C>G c.1611C>G (p.Ser537Arg) c.25251C>G (p.Ser8417Arg) c.25239C>G (p.Ser8413Arg) c.25230C>G (p.Ser8410Arg) c.25200C>G (p.Ser8400Arg) c.25236C>G (p.Ser8412Arg) c.25182C>G (p.Ser8394Arg) c.25179C>G (p.Ser8393Arg) c.25167C>G (p.Ser8389Arg) c.25110C>G (p.Ser8370Arg) c.25098C>G (p.Ser8366Arg) c.25095C>G (p.Ser8365Arg) c.25092C>G (p.Ser8364Arg) c.25248C>G (p.Ser8416Arg) c.25086C>G (p.Ser8362Arg) c.23526C>G (p.Ser7842Arg) c.23019C>G (p.Ser7673Arg) c.18486C>G (p.Ser6162Arg) c.1752C>G (p.Ser584Arg) c.25224C>G (p.Ser8408Arg) c.25173C>G (p.Ser8391Arg) c.25026C>G (p.Ser8342Arg) | |
| 6 | g.152141303G= | CA1673207747 | SYNE1 | c.1680C= (p.Ser560=) c.25146C= (p.Ser8382=) c.25002C= (p.Ser8334=) c.548C= c.881C= c.891-1142C= c.918C= (p.Ser306=) c.23931C= (p.Ser7977=) n.1894C= c.3981C= (p.Ser1327=) n.8838C= c.3084C= (p.Ser1028=) n.8730C= n.1760C= n.4168C= n.1983C= c.1611C= (p.Ser537=) c.25251C= (p.Ser8417=) c.25239C= (p.Ser8413=) c.25230C= (p.Ser8410=) c.25200C= (p.Ser8400=) c.25236C= (p.Ser8412=) c.25182C= (p.Ser8394=) c.25179C= (p.Ser8393=) c.25167C= (p.Ser8389=) c.25110C= (p.Ser8370=) c.25098C= (p.Ser8366=) c.25095C= (p.Ser8365=) c.25092C= (p.Ser8364=) c.25248C= (p.Ser8416=) c.25086C= (p.Ser8362=) c.23526C= (p.Ser7842=) c.23019C= (p.Ser7673=) c.18486C= (p.Ser6162=) c.1752C= (p.Ser584=) c.25224C= (p.Ser8408=) c.25173C= (p.Ser8391=) c.25026C= (p.Ser8342=) | |
| 6 | g.152141303G>T | CA366082309 | SYNE1 | c.1680C>A (p.Ser560Arg) c.25146C>A (p.Ser8382Arg) c.25002C>A (p.Ser8334Arg) c.548C>A c.881C>A c.891-1142C>A c.918C>A (p.Ser306Arg) c.23931C>A (p.Ser7977Arg) n.1894C>A c.3981C>A (p.Ser1327Arg) n.8838C>A c.3084C>A (p.Ser1028Arg) n.8730C>A n.1760C>A n.4168C>A n.1983C>A c.1611C>A (p.Ser537Arg) c.25251C>A (p.Ser8417Arg) c.25239C>A (p.Ser8413Arg) c.25230C>A (p.Ser8410Arg) c.25200C>A (p.Ser8400Arg) c.25236C>A (p.Ser8412Arg) c.25182C>A (p.Ser8394Arg) c.25179C>A (p.Ser8393Arg) c.25167C>A (p.Ser8389Arg) c.25110C>A (p.Ser8370Arg) c.25098C>A (p.Ser8366Arg) c.25095C>A (p.Ser8365Arg) c.25092C>A (p.Ser8364Arg) c.25248C>A (p.Ser8416Arg) c.25086C>A (p.Ser8362Arg) c.23526C>A (p.Ser7842Arg) c.23019C>A (p.Ser7673Arg) c.18486C>A (p.Ser6162Arg) c.1752C>A (p.Ser584Arg) c.25224C>A (p.Ser8408Arg) c.25173C>A (p.Ser8391Arg) c.25026C>A (p.Ser8342Arg) | |
| 6 | g.152141304C>A | CA366082311 | SYNE1 | c.1679G>T (p.Ser560Ile) c.25145G>T (p.Ser8382Ile) c.25001G>T (p.Ser8334Ile) c.547G>T c.880G>T c.891-1143G>T c.917G>T (p.Ser306Ile) c.23930G>T (p.Ser7977Ile) n.1893G>T c.3980G>T (p.Ser1327Ile) n.8837G>T c.3083G>T (p.Ser1028Ile) n.8729G>T n.1759G>T n.4167G>T n.1982G>T c.1610G>T (p.Ser537Ile) c.25250G>T (p.Ser8417Ile) c.25238G>T (p.Ser8413Ile) c.25229G>T (p.Ser8410Ile) c.25199G>T (p.Ser8400Ile) c.25235G>T (p.Ser8412Ile) c.25181G>T (p.Ser8394Ile) c.25178G>T (p.Ser8393Ile) c.25166G>T (p.Ser8389Ile) c.25109G>T (p.Ser8370Ile) c.25097G>T (p.Ser8366Ile) c.25094G>T (p.Ser8365Ile) c.25091G>T (p.Ser8364Ile) c.25247G>T (p.Ser8416Ile) c.25085G>T (p.Ser8362Ile) c.23525G>T (p.Ser7842Ile) c.23018G>T (p.Ser7673Ile) c.18485G>T (p.Ser6162Ile) c.1751G>T (p.Ser584Ile) c.25223G>T (p.Ser8408Ile) c.25172G>T (p.Ser8391Ile) c.25025G>T (p.Ser8342Ile) | |
| 6 | g.152141304C= | CA1673207752 | SYNE1 | c.1679G= (p.Ser560=) c.25145G= (p.Ser8382=) c.25001G= (p.Ser8334=) c.547G= c.880G= c.891-1143G= c.917G= (p.Ser306=) c.23930G= (p.Ser7977=) n.1893G= c.3980G= (p.Ser1327=) n.8837G= c.3083G= (p.Ser1028=) n.8729G= n.1759G= n.4167G= n.1982G= c.1610G= (p.Ser537=) c.25250G= (p.Ser8417=) c.25238G= (p.Ser8413=) c.25229G= (p.Ser8410=) c.25199G= (p.Ser8400=) c.25235G= (p.Ser8412=) c.25181G= (p.Ser8394=) c.25178G= (p.Ser8393=) c.25166G= (p.Ser8389=) c.25109G= (p.Ser8370=) c.25097G= (p.Ser8366=) c.25094G= (p.Ser8365=) c.25091G= (p.Ser8364=) c.25247G= (p.Ser8416=) c.25085G= (p.Ser8362=) c.23525G= (p.Ser7842=) c.23018G= (p.Ser7673=) c.18485G= (p.Ser6162=) c.1751G= (p.Ser584=) c.25223G= (p.Ser8408=) c.25172G= (p.Ser8391=) c.25025G= (p.Ser8342=) | |
| 6 | g.152141304C>G | CA366082313 | SYNE1 | c.1679G>C (p.Ser560Thr) c.25145G>C (p.Ser8382Thr) c.25001G>C (p.Ser8334Thr) c.547G>C c.880G>C c.891-1143G>C c.917G>C (p.Ser306Thr) c.23930G>C (p.Ser7977Thr) n.1893G>C c.3980G>C (p.Ser1327Thr) n.8837G>C c.3083G>C (p.Ser1028Thr) n.8729G>C n.1759G>C n.4167G>C n.1982G>C c.1610G>C (p.Ser537Thr) c.25250G>C (p.Ser8417Thr) c.25238G>C (p.Ser8413Thr) c.25229G>C (p.Ser8410Thr) c.25199G>C (p.Ser8400Thr) c.25235G>C (p.Ser8412Thr) c.25181G>C (p.Ser8394Thr) c.25178G>C (p.Ser8393Thr) c.25166G>C (p.Ser8389Thr) c.25109G>C (p.Ser8370Thr) c.25097G>C (p.Ser8366Thr) c.25094G>C (p.Ser8365Thr) c.25091G>C (p.Ser8364Thr) c.25247G>C (p.Ser8416Thr) c.25085G>C (p.Ser8362Thr) c.23525G>C (p.Ser7842Thr) c.23018G>C (p.Ser7673Thr) c.18485G>C (p.Ser6162Thr) c.1751G>C (p.Ser584Thr) c.25223G>C (p.Ser8408Thr) c.25172G>C (p.Ser8391Thr) c.25025G>C (p.Ser8342Thr) | |
| 6 | g.152141304C>T | CA4052917 | SYNE1 | c.1679G>A (p.Ser560Asn) c.25145G>A (p.Ser8382Asn) c.25001G>A (p.Ser8334Asn) c.547G>A c.880G>A c.891-1143G>A c.917G>A (p.Ser306Asn) c.23930G>A (p.Ser7977Asn) n.1893G>A c.3980G>A (p.Ser1327Asn) n.8837G>A c.3083G>A (p.Ser1028Asn) n.8729G>A n.1759G>A n.4167G>A n.1982G>A c.1610G>A (p.Ser537Asn) c.25250G>A (p.Ser8417Asn) c.25238G>A (p.Ser8413Asn) c.25229G>A (p.Ser8410Asn) c.25199G>A (p.Ser8400Asn) c.25235G>A (p.Ser8412Asn) c.25181G>A (p.Ser8394Asn) c.25178G>A (p.Ser8393Asn) c.25166G>A (p.Ser8389Asn) c.25109G>A (p.Ser8370Asn) c.25097G>A (p.Ser8366Asn) c.25094G>A (p.Ser8365Asn) c.25091G>A (p.Ser8364Asn) c.25247G>A (p.Ser8416Asn) c.25085G>A (p.Ser8362Asn) c.23525G>A (p.Ser7842Asn) c.23018G>A (p.Ser7673Asn) c.18485G>A (p.Ser6162Asn) c.1751G>A (p.Ser584Asn) c.25223G>A (p.Ser8408Asn) c.25172G>A (p.Ser8391Asn) c.25025G>A (p.Ser8342Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152141305T>A | CA366082319 | SYNE1 | c.1678A>T (p.Ser560Cys) c.25144A>T (p.Ser8382Cys) c.25000A>T (p.Ser8334Cys) c.546A>T c.879A>T c.891-1144A>T c.916A>T (p.Ser306Cys) c.23929A>T (p.Ser7977Cys) n.1892A>T c.3979A>T (p.Ser1327Cys) n.8836A>T c.3082A>T (p.Ser1028Cys) n.8728A>T n.1758A>T n.4166A>T n.1981A>T c.1609A>T (p.Ser537Cys) c.25249A>T (p.Ser8417Cys) c.25237A>T (p.Ser8413Cys) c.25228A>T (p.Ser8410Cys) c.25198A>T (p.Ser8400Cys) c.25234A>T (p.Ser8412Cys) c.25180A>T (p.Ser8394Cys) c.25177A>T (p.Ser8393Cys) c.25165A>T (p.Ser8389Cys) c.25108A>T (p.Ser8370Cys) c.25096A>T (p.Ser8366Cys) c.25093A>T (p.Ser8365Cys) c.25090A>T (p.Ser8364Cys) c.25246A>T (p.Ser8416Cys) c.25084A>T (p.Ser8362Cys) c.23524A>T (p.Ser7842Cys) c.23017A>T (p.Ser7673Cys) c.18484A>T (p.Ser6162Cys) c.1750A>T (p.Ser584Cys) c.25222A>T (p.Ser8408Cys) c.25171A>T (p.Ser8391Cys) c.25024A>T (p.Ser8342Cys) | |
| 6 | g.152141305T>C | CA366082318 | SYNE1 | c.1678A>G (p.Ser560Gly) c.25144A>G (p.Ser8382Gly) c.25000A>G (p.Ser8334Gly) c.546A>G c.879A>G c.891-1144A>G c.916A>G (p.Ser306Gly) c.23929A>G (p.Ser7977Gly) n.1892A>G c.3979A>G (p.Ser1327Gly) n.8836A>G c.3082A>G (p.Ser1028Gly) n.8728A>G n.1758A>G n.4166A>G n.1981A>G c.1609A>G (p.Ser537Gly) c.25249A>G (p.Ser8417Gly) c.25237A>G (p.Ser8413Gly) c.25228A>G (p.Ser8410Gly) c.25198A>G (p.Ser8400Gly) c.25234A>G (p.Ser8412Gly) c.25180A>G (p.Ser8394Gly) c.25177A>G (p.Ser8393Gly) c.25165A>G (p.Ser8389Gly) c.25108A>G (p.Ser8370Gly) c.25096A>G (p.Ser8366Gly) c.25093A>G (p.Ser8365Gly) c.25090A>G (p.Ser8364Gly) c.25246A>G (p.Ser8416Gly) c.25084A>G (p.Ser8362Gly) c.23524A>G (p.Ser7842Gly) c.23017A>G (p.Ser7673Gly) c.18484A>G (p.Ser6162Gly) c.1750A>G (p.Ser584Gly) c.25222A>G (p.Ser8408Gly) c.25171A>G (p.Ser8391Gly) c.25024A>G (p.Ser8342Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152141305T>G | CA366082316 | SYNE1 | c.1678A>C (p.Ser560Arg) c.25144A>C (p.Ser8382Arg) c.25000A>C (p.Ser8334Arg) c.546A>C c.879A>C c.891-1144A>C c.916A>C (p.Ser306Arg) c.23929A>C (p.Ser7977Arg) n.1892A>C c.3979A>C (p.Ser1327Arg) n.8836A>C c.3082A>C (p.Ser1028Arg) n.8728A>C n.1758A>C n.4166A>C n.1981A>C c.1609A>C (p.Ser537Arg) c.25249A>C (p.Ser8417Arg) c.25237A>C (p.Ser8413Arg) c.25228A>C (p.Ser8410Arg) c.25198A>C (p.Ser8400Arg) c.25234A>C (p.Ser8412Arg) c.25180A>C (p.Ser8394Arg) c.25177A>C (p.Ser8393Arg) c.25165A>C (p.Ser8389Arg) c.25108A>C (p.Ser8370Arg) c.25096A>C (p.Ser8366Arg) c.25093A>C (p.Ser8365Arg) c.25090A>C (p.Ser8364Arg) c.25246A>C (p.Ser8416Arg) c.25084A>C (p.Ser8362Arg) c.23524A>C (p.Ser7842Arg) c.23017A>C (p.Ser7673Arg) c.18484A>C (p.Ser6162Arg) c.1750A>C (p.Ser584Arg) c.25222A>C (p.Ser8408Arg) c.25171A>C (p.Ser8391Arg) c.25024A>C (p.Ser8342Arg) | |
| 6 | g.152141305T= | CA1673207757 | SYNE1 | c.1678A= (p.Ser560=) c.25144A= (p.Ser8382=) c.25000A= (p.Ser8334=) c.546A= c.879A= c.891-1144A= c.916A= (p.Ser306=) c.23929A= (p.Ser7977=) n.1892A= c.3979A= (p.Ser1327=) n.8836A= c.3082A= (p.Ser1028=) n.8728A= n.1758A= n.4166A= n.1981A= c.1609A= (p.Ser537=) c.25249A= (p.Ser8417=) c.25237A= (p.Ser8413=) c.25228A= (p.Ser8410=) c.25198A= (p.Ser8400=) c.25234A= (p.Ser8412=) c.25180A= (p.Ser8394=) c.25177A= (p.Ser8393=) c.25165A= (p.Ser8389=) c.25108A= (p.Ser8370=) c.25096A= (p.Ser8366=) c.25093A= (p.Ser8365=) c.25090A= (p.Ser8364=) c.25246A= (p.Ser8416=) c.25084A= (p.Ser8362=) c.23524A= (p.Ser7842=) c.23017A= (p.Ser7673=) c.18484A= (p.Ser6162=) c.1750A= (p.Ser584=) c.25222A= (p.Ser8408=) c.25171A= (p.Ser8391=) c.25024A= (p.Ser8342=) | |
| 6 | g.152141306A>C | CA366082320 | SYNE1 | c.1677T>G (p.Ser559Arg) c.25143T>G (p.Ser8381Arg) c.24999T>G (p.Ser8333Arg) c.545T>G c.878T>G c.891-1145T>G c.915T>G (p.Ser305Arg) c.23928T>G (p.Ser7976Arg) n.1891T>G c.3978T>G (p.Ser1326Arg) n.8835T>G c.3081T>G (p.Ser1027Arg) n.8727T>G n.1757T>G n.4165T>G n.1980T>G c.1608T>G (p.Ser536Arg) c.25248T>G (p.Ser8416Arg) c.25236T>G (p.Ser8412Arg) c.25227T>G (p.Ser8409Arg) c.25197T>G (p.Ser8399Arg) c.25233T>G (p.Ser8411Arg) c.25179T>G (p.Ser8393Arg) c.25176T>G (p.Ser8392Arg) c.25164T>G (p.Ser8388Arg) c.25107T>G (p.Ser8369Arg) c.25095T>G (p.Ser8365Arg) c.25092T>G (p.Ser8364Arg) c.25089T>G (p.Ser8363Arg) c.25245T>G (p.Ser8415Arg) c.25083T>G (p.Ser8361Arg) c.23523T>G (p.Ser7841Arg) c.23016T>G (p.Ser7672Arg) c.18483T>G (p.Ser6161Arg) c.1749T>G (p.Ser583Arg) c.25221T>G (p.Ser8407Arg) c.25170T>G (p.Ser8390Arg) c.25023T>G (p.Ser8341Arg) | |
| 6 | g.152141306A>G | CA452747136 | SYNE1 | c.1677T>C (p.Ser559=) c.25143T>C (p.Ser8381=) c.24999T>C (p.Ser8333=) c.545T>C c.878T>C c.891-1145T>C c.915T>C (p.Ser305=) c.23928T>C (p.Ser7976=) n.1891T>C c.3978T>C (p.Ser1326=) n.8835T>C c.3081T>C (p.Ser1027=) n.8727T>C n.1757T>C n.4165T>C n.1980T>C c.1608T>C (p.Ser536=) c.25248T>C (p.Ser8416=) c.25236T>C (p.Ser8412=) c.25227T>C (p.Ser8409=) c.25197T>C (p.Ser8399=) c.25233T>C (p.Ser8411=) c.25179T>C (p.Ser8393=) c.25176T>C (p.Ser8392=) c.25164T>C (p.Ser8388=) c.25107T>C (p.Ser8369=) c.25095T>C (p.Ser8365=) c.25092T>C (p.Ser8364=) c.25089T>C (p.Ser8363=) c.25245T>C (p.Ser8415=) c.25083T>C (p.Ser8361=) c.23523T>C (p.Ser7841=) c.23016T>C (p.Ser7672=) c.18483T>C (p.Ser6161=) c.1749T>C (p.Ser583=) c.25221T>C (p.Ser8407=) c.25170T>C (p.Ser8390=) c.25023T>C (p.Ser8341=) | |
| 6 | g.152141306A>T | CA366082321 | SYNE1 | c.1677T>A (p.Ser559Arg) c.25143T>A (p.Ser8381Arg) c.24999T>A (p.Ser8333Arg) c.545T>A c.878T>A c.891-1145T>A c.915T>A (p.Ser305Arg) c.23928T>A (p.Ser7976Arg) n.1891T>A c.3978T>A (p.Ser1326Arg) n.8835T>A c.3081T>A (p.Ser1027Arg) n.8727T>A n.1757T>A n.4165T>A n.1980T>A c.1608T>A (p.Ser536Arg) c.25248T>A (p.Ser8416Arg) c.25236T>A (p.Ser8412Arg) c.25227T>A (p.Ser8409Arg) c.25197T>A (p.Ser8399Arg) c.25233T>A (p.Ser8411Arg) c.25179T>A (p.Ser8393Arg) c.25176T>A (p.Ser8392Arg) c.25164T>A (p.Ser8388Arg) c.25107T>A (p.Ser8369Arg) c.25095T>A (p.Ser8365Arg) c.25092T>A (p.Ser8364Arg) c.25089T>A (p.Ser8363Arg) c.25245T>A (p.Ser8415Arg) c.25083T>A (p.Ser8361Arg) c.23523T>A (p.Ser7841Arg) c.23016T>A (p.Ser7672Arg) c.18483T>A (p.Ser6161Arg) c.1749T>A (p.Ser583Arg) c.25221T>A (p.Ser8407Arg) c.25170T>A (p.Ser8390Arg) c.25023T>A (p.Ser8341Arg) | |
| 6 | g.152141307C>A | CA366082323 | SYNE1 | c.1676G>T (p.Ser559Ile) c.25142G>T (p.Ser8381Ile) c.24998G>T (p.Ser8333Ile) c.544G>T c.877G>T c.891-1146G>T c.914G>T (p.Ser305Ile) c.23927G>T (p.Ser7976Ile) n.1890G>T c.3977G>T (p.Ser1326Ile) n.8834G>T c.3080G>T (p.Ser1027Ile) n.8726G>T n.1756G>T n.4164G>T n.1979G>T c.1607G>T (p.Ser536Ile) c.25247G>T (p.Ser8416Ile) c.25235G>T (p.Ser8412Ile) c.25226G>T (p.Ser8409Ile) c.25196G>T (p.Ser8399Ile) c.25232G>T (p.Ser8411Ile) c.25178G>T (p.Ser8393Ile) c.25175G>T (p.Ser8392Ile) c.25163G>T (p.Ser8388Ile) c.25106G>T (p.Ser8369Ile) c.25094G>T (p.Ser8365Ile) c.25091G>T (p.Ser8364Ile) c.25088G>T (p.Ser8363Ile) c.25244G>T (p.Ser8415Ile) c.25082G>T (p.Ser8361Ile) c.23522G>T (p.Ser7841Ile) c.23015G>T (p.Ser7672Ile) c.18482G>T (p.Ser6161Ile) c.1748G>T (p.Ser583Ile) c.25220G>T (p.Ser8407Ile) c.25169G>T (p.Ser8390Ile) c.25022G>T (p.Ser8341Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152141307C= | CA1673207762 | SYNE1 | c.1676G= (p.Ser559=) c.25142G= (p.Ser8381=) c.24998G= (p.Ser8333=) c.544G= c.877G= c.891-1146G= c.914G= (p.Ser305=) c.23927G= (p.Ser7976=) n.1890G= c.3977G= (p.Ser1326=) n.8834G= c.3080G= (p.Ser1027=) n.8726G= n.1756G= n.4164G= n.1979G= c.1607G= (p.Ser536=) c.25247G= (p.Ser8416=) c.25235G= (p.Ser8412=) c.25226G= (p.Ser8409=) c.25196G= (p.Ser8399=) c.25232G= (p.Ser8411=) c.25178G= (p.Ser8393=) c.25175G= (p.Ser8392=) c.25163G= (p.Ser8388=) c.25106G= (p.Ser8369=) c.25094G= (p.Ser8365=) c.25091G= (p.Ser8364=) c.25088G= (p.Ser8363=) c.25244G= (p.Ser8415=) c.25082G= (p.Ser8361=) c.23522G= (p.Ser7841=) c.23015G= (p.Ser7672=) c.18482G= (p.Ser6161=) c.1748G= (p.Ser583=) c.25220G= (p.Ser8407=) c.25169G= (p.Ser8390=) c.25022G= (p.Ser8341=) | |
| 6 | g.152141307C>G | CA366082325 | SYNE1 | c.1676G>C (p.Ser559Thr) c.25142G>C (p.Ser8381Thr) c.24998G>C (p.Ser8333Thr) c.544G>C c.877G>C c.891-1146G>C c.914G>C (p.Ser305Thr) c.23927G>C (p.Ser7976Thr) n.1890G>C c.3977G>C (p.Ser1326Thr) n.8834G>C c.3080G>C (p.Ser1027Thr) n.8726G>C n.1756G>C n.4164G>C n.1979G>C c.1607G>C (p.Ser536Thr) c.25247G>C (p.Ser8416Thr) c.25235G>C (p.Ser8412Thr) c.25226G>C (p.Ser8409Thr) c.25196G>C (p.Ser8399Thr) c.25232G>C (p.Ser8411Thr) c.25178G>C (p.Ser8393Thr) c.25175G>C (p.Ser8392Thr) c.25163G>C (p.Ser8388Thr) c.25106G>C (p.Ser8369Thr) c.25094G>C (p.Ser8365Thr) c.25091G>C (p.Ser8364Thr) c.25088G>C (p.Ser8363Thr) c.25244G>C (p.Ser8415Thr) c.25082G>C (p.Ser8361Thr) c.23522G>C (p.Ser7841Thr) c.23015G>C (p.Ser7672Thr) c.18482G>C (p.Ser6161Thr) c.1748G>C (p.Ser583Thr) c.25220G>C (p.Ser8407Thr) c.25169G>C (p.Ser8390Thr) c.25022G>C (p.Ser8341Thr) | gnomAD v4 |
| 6 | g.152141307C>T | CA366082327 | SYNE1 | c.1676G>A (p.Ser559Asn) c.25142G>A (p.Ser8381Asn) c.24998G>A (p.Ser8333Asn) c.544G>A c.877G>A c.891-1146G>A c.914G>A (p.Ser305Asn) c.23927G>A (p.Ser7976Asn) n.1890G>A c.3977G>A (p.Ser1326Asn) n.8834G>A c.3080G>A (p.Ser1027Asn) n.8726G>A n.1756G>A n.4164G>A n.1979G>A c.1607G>A (p.Ser536Asn) c.25247G>A (p.Ser8416Asn) c.25235G>A (p.Ser8412Asn) c.25226G>A (p.Ser8409Asn) c.25196G>A (p.Ser8399Asn) c.25232G>A (p.Ser8411Asn) c.25178G>A (p.Ser8393Asn) c.25175G>A (p.Ser8392Asn) c.25163G>A (p.Ser8388Asn) c.25106G>A (p.Ser8369Asn) c.25094G>A (p.Ser8365Asn) c.25091G>A (p.Ser8364Asn) c.25088G>A (p.Ser8363Asn) c.25244G>A (p.Ser8415Asn) c.25082G>A (p.Ser8361Asn) c.23522G>A (p.Ser7841Asn) c.23015G>A (p.Ser7672Asn) c.18482G>A (p.Ser6161Asn) c.1748G>A (p.Ser583Asn) c.25220G>A (p.Ser8407Asn) c.25169G>A (p.Ser8390Asn) c.25022G>A (p.Ser8341Asn) |