UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152140031C>A | CA452969864 | SYNE1 | c.1911G>T (p.Thr637=) c.25377G>T (p.Thr8459=) c.25233G>T (p.Thr8411=) c.779G>T c.1112G>T c.1021G>T c.1149G>T (p.Thr383=) c.24162G>T (p.Thr8054=) n.2125G>T c.4212G>T (p.Thr1404=) n.9069G>T c.3315G>T (p.Thr1105=) n.8961G>T n.1991G>T n.4399G>T n.2214G>T c.1842G>T (p.Thr614=) c.25482G>T (p.Thr8494=) c.25470G>T (p.Thr8490=) c.25461G>T (p.Thr8487=) c.25431G>T (p.Thr8477=) c.25467G>T (p.Thr8489=) c.25413G>T (p.Thr8471=) c.25410G>T (p.Thr8470=) c.25398G>T (p.Thr8466=) c.25341G>T (p.Thr8447=) c.25329G>T (p.Thr8443=) c.25326G>T (p.Thr8442=) c.25323G>T (p.Thr8441=) c.25479G>T (p.Thr8493=) c.25317G>T (p.Thr8439=) c.23757G>T (p.Thr7919=) c.23250G>T (p.Thr7750=) c.18717G>T (p.Thr6239=) c.1983G>T (p.Thr661=) c.25455G>T (p.Thr8485=) c.25404G>T (p.Thr8468=) c.25257G>T (p.Thr8419=) | |
| 6 | g.152140031C= | CA1673206265 | SYNE1 | c.1911G= (p.Thr637=) c.25377G= (p.Thr8459=) c.25233G= (p.Thr8411=) c.779G= c.1112G= c.1021G= c.1149G= (p.Thr383=) c.24162G= (p.Thr8054=) n.2125G= c.4212G= (p.Thr1404=) n.9069G= c.3315G= (p.Thr1105=) n.8961G= n.1991G= n.4399G= n.2214G= c.1842G= (p.Thr614=) c.25482G= (p.Thr8494=) c.25470G= (p.Thr8490=) c.25461G= (p.Thr8487=) c.25431G= (p.Thr8477=) c.25467G= (p.Thr8489=) c.25413G= (p.Thr8471=) c.25410G= (p.Thr8470=) c.25398G= (p.Thr8466=) c.25341G= (p.Thr8447=) c.25329G= (p.Thr8443=) c.25326G= (p.Thr8442=) c.25323G= (p.Thr8441=) c.25479G= (p.Thr8493=) c.25317G= (p.Thr8439=) c.23757G= (p.Thr7919=) c.23250G= (p.Thr7750=) c.18717G= (p.Thr6239=) c.1983G= (p.Thr661=) c.25455G= (p.Thr8485=) c.25404G= (p.Thr8468=) c.25257G= (p.Thr8419=) | |
| 6 | g.152140031C>G | CA452969863 | SYNE1 | c.1911G>C (p.Thr637=) c.25377G>C (p.Thr8459=) c.25233G>C (p.Thr8411=) c.779G>C c.1112G>C c.1021G>C c.1149G>C (p.Thr383=) c.24162G>C (p.Thr8054=) n.2125G>C c.4212G>C (p.Thr1404=) n.9069G>C c.3315G>C (p.Thr1105=) n.8961G>C n.1991G>C n.4399G>C n.2214G>C c.1842G>C (p.Thr614=) c.25482G>C (p.Thr8494=) c.25470G>C (p.Thr8490=) c.25461G>C (p.Thr8487=) c.25431G>C (p.Thr8477=) c.25467G>C (p.Thr8489=) c.25413G>C (p.Thr8471=) c.25410G>C (p.Thr8470=) c.25398G>C (p.Thr8466=) c.25341G>C (p.Thr8447=) c.25329G>C (p.Thr8443=) c.25326G>C (p.Thr8442=) c.25323G>C (p.Thr8441=) c.25479G>C (p.Thr8493=) c.25317G>C (p.Thr8439=) c.23757G>C (p.Thr7919=) c.23250G>C (p.Thr7750=) c.18717G>C (p.Thr6239=) c.1983G>C (p.Thr661=) c.25455G>C (p.Thr8485=) c.25404G>C (p.Thr8468=) c.25257G>C (p.Thr8419=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.152140031C>T | CA4052855 | SYNE1 | c.1911G>A (p.Thr637=) c.25377G>A (p.Thr8459=) c.25233G>A (p.Thr8411=) c.779G>A c.1112G>A c.1021G>A c.1149G>A (p.Thr383=) c.24162G>A (p.Thr8054=) n.2125G>A c.4212G>A (p.Thr1404=) n.9069G>A c.3315G>A (p.Thr1105=) n.8961G>A n.1991G>A n.4399G>A n.2214G>A c.1842G>A (p.Thr614=) c.25482G>A (p.Thr8494=) c.25470G>A (p.Thr8490=) c.25461G>A (p.Thr8487=) c.25431G>A (p.Thr8477=) c.25467G>A (p.Thr8489=) c.25413G>A (p.Thr8471=) c.25410G>A (p.Thr8470=) c.25398G>A (p.Thr8466=) c.25341G>A (p.Thr8447=) c.25329G>A (p.Thr8443=) c.25326G>A (p.Thr8442=) c.25323G>A (p.Thr8441=) c.25479G>A (p.Thr8493=) c.25317G>A (p.Thr8439=) c.23757G>A (p.Thr7919=) c.23250G>A (p.Thr7750=) c.18717G>A (p.Thr6239=) c.1983G>A (p.Thr661=) c.25455G>A (p.Thr8485=) c.25404G>A (p.Thr8468=) c.25257G>A (p.Thr8419=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152140032G>A | CA4052857 | SYNE1 | c.1910C>T (p.Thr637Met) c.25376C>T (p.Thr8459Met) c.25232C>T (p.Thr8411Met) c.778C>T c.1111C>T c.1020C>T c.1148C>T (p.Thr383Met) c.24161C>T (p.Thr8054Met) n.2124C>T c.4211C>T (p.Thr1404Met) n.9068C>T c.3314C>T (p.Thr1105Met) n.8960C>T n.1990C>T n.4398C>T n.2213C>T c.1841C>T (p.Thr614Met) c.25481C>T (p.Thr8494Met) c.25469C>T (p.Thr8490Met) c.25460C>T (p.Thr8487Met) c.25430C>T (p.Thr8477Met) c.25466C>T (p.Thr8489Met) c.25412C>T (p.Thr8471Met) c.25409C>T (p.Thr8470Met) c.25397C>T (p.Thr8466Met) c.25340C>T (p.Thr8447Met) c.25328C>T (p.Thr8443Met) c.25325C>T (p.Thr8442Met) c.25322C>T (p.Thr8441Met) c.25478C>T (p.Thr8493Met) c.25316C>T (p.Thr8439Met) c.23756C>T (p.Thr7919Met) c.23249C>T (p.Thr7750Met) c.18716C>T (p.Thr6239Met) c.1982C>T (p.Thr661Met) c.25454C>T (p.Thr8485Met) c.25403C>T (p.Thr8468Met) c.25256C>T (p.Thr8419Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152140032G>C | CA366080239 | SYNE1 | c.1910C>G (p.Thr637Arg) c.25376C>G (p.Thr8459Arg) c.25232C>G (p.Thr8411Arg) c.778C>G c.1111C>G c.1020C>G c.1148C>G (p.Thr383Arg) c.24161C>G (p.Thr8054Arg) n.2124C>G c.4211C>G (p.Thr1404Arg) n.9068C>G c.3314C>G (p.Thr1105Arg) n.8960C>G n.1990C>G n.4398C>G n.2213C>G c.1841C>G (p.Thr614Arg) c.25481C>G (p.Thr8494Arg) c.25469C>G (p.Thr8490Arg) c.25460C>G (p.Thr8487Arg) c.25430C>G (p.Thr8477Arg) c.25466C>G (p.Thr8489Arg) c.25412C>G (p.Thr8471Arg) c.25409C>G (p.Thr8470Arg) c.25397C>G (p.Thr8466Arg) c.25340C>G (p.Thr8447Arg) c.25328C>G (p.Thr8443Arg) c.25325C>G (p.Thr8442Arg) c.25322C>G (p.Thr8441Arg) c.25478C>G (p.Thr8493Arg) c.25316C>G (p.Thr8439Arg) c.23756C>G (p.Thr7919Arg) c.23249C>G (p.Thr7750Arg) c.18716C>G (p.Thr6239Arg) c.1982C>G (p.Thr661Arg) c.25454C>G (p.Thr8485Arg) c.25403C>G (p.Thr8468Arg) c.25256C>G (p.Thr8419Arg) | gnomAD v4 |
| 6 | g.152140032G= | CA1673206271 | SYNE1 | c.1910C= (p.Thr637=) c.25376C= (p.Thr8459=) c.25232C= (p.Thr8411=) c.778C= c.1111C= c.1020C= c.1148C= (p.Thr383=) c.24161C= (p.Thr8054=) n.2124C= c.4211C= (p.Thr1404=) n.9068C= c.3314C= (p.Thr1105=) n.8960C= n.1990C= n.4398C= n.2213C= c.1841C= (p.Thr614=) c.25481C= (p.Thr8494=) c.25469C= (p.Thr8490=) c.25460C= (p.Thr8487=) c.25430C= (p.Thr8477=) c.25466C= (p.Thr8489=) c.25412C= (p.Thr8471=) c.25409C= (p.Thr8470=) c.25397C= (p.Thr8466=) c.25340C= (p.Thr8447=) c.25328C= (p.Thr8443=) c.25325C= (p.Thr8442=) c.25322C= (p.Thr8441=) c.25478C= (p.Thr8493=) c.25316C= (p.Thr8439=) c.23756C= (p.Thr7919=) c.23249C= (p.Thr7750=) c.18716C= (p.Thr6239=) c.1982C= (p.Thr661=) c.25454C= (p.Thr8485=) c.25403C= (p.Thr8468=) c.25256C= (p.Thr8419=) | |
| 6 | g.152140032G>T | CA4052856 | SYNE1 | c.1910C>A (p.Thr637Lys) c.25376C>A (p.Thr8459Lys) c.25232C>A (p.Thr8411Lys) c.778C>A c.1111C>A c.1020C>A c.1148C>A (p.Thr383Lys) c.24161C>A (p.Thr8054Lys) n.2124C>A c.4211C>A (p.Thr1404Lys) n.9068C>A c.3314C>A (p.Thr1105Lys) n.8960C>A n.1990C>A n.4398C>A n.2213C>A c.1841C>A (p.Thr614Lys) c.25481C>A (p.Thr8494Lys) c.25469C>A (p.Thr8490Lys) c.25460C>A (p.Thr8487Lys) c.25430C>A (p.Thr8477Lys) c.25466C>A (p.Thr8489Lys) c.25412C>A (p.Thr8471Lys) c.25409C>A (p.Thr8470Lys) c.25397C>A (p.Thr8466Lys) c.25340C>A (p.Thr8447Lys) c.25328C>A (p.Thr8443Lys) c.25325C>A (p.Thr8442Lys) c.25322C>A (p.Thr8441Lys) c.25478C>A (p.Thr8493Lys) c.25316C>A (p.Thr8439Lys) c.23756C>A (p.Thr7919Lys) c.23249C>A (p.Thr7750Lys) c.18716C>A (p.Thr6239Lys) c.1982C>A (p.Thr661Lys) c.25454C>A (p.Thr8485Lys) c.25403C>A (p.Thr8468Lys) c.25256C>A (p.Thr8419Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152140033T>A | CA366080242 | SYNE1 | c.1909A>T (p.Thr637Ser) c.25375A>T (p.Thr8459Ser) c.25231A>T (p.Thr8411Ser) c.777A>T c.1110A>T c.1019A>T c.1147A>T (p.Thr383Ser) c.24160A>T (p.Thr8054Ser) n.2123A>T c.4210A>T (p.Thr1404Ser) n.9067A>T c.3313A>T (p.Thr1105Ser) n.8959A>T n.1989A>T n.4397A>T n.2212A>T c.1840A>T (p.Thr614Ser) c.25480A>T (p.Thr8494Ser) c.25468A>T (p.Thr8490Ser) c.25459A>T (p.Thr8487Ser) c.25429A>T (p.Thr8477Ser) c.25465A>T (p.Thr8489Ser) c.25411A>T (p.Thr8471Ser) c.25408A>T (p.Thr8470Ser) c.25396A>T (p.Thr8466Ser) c.25339A>T (p.Thr8447Ser) c.25327A>T (p.Thr8443Ser) c.25324A>T (p.Thr8442Ser) c.25321A>T (p.Thr8441Ser) c.25477A>T (p.Thr8493Ser) c.25315A>T (p.Thr8439Ser) c.23755A>T (p.Thr7919Ser) c.23248A>T (p.Thr7750Ser) c.18715A>T (p.Thr6239Ser) c.1981A>T (p.Thr661Ser) c.25453A>T (p.Thr8485Ser) c.25402A>T (p.Thr8468Ser) c.25255A>T (p.Thr8419Ser) | |
| 6 | g.152140033T>C | CA366080244 | SYNE1 | c.1909A>G (p.Thr637Ala) c.25375A>G (p.Thr8459Ala) c.25231A>G (p.Thr8411Ala) c.777A>G c.1110A>G c.1019A>G c.1147A>G (p.Thr383Ala) c.24160A>G (p.Thr8054Ala) n.2123A>G c.4210A>G (p.Thr1404Ala) n.9067A>G c.3313A>G (p.Thr1105Ala) n.8959A>G n.1989A>G n.4397A>G n.2212A>G c.1840A>G (p.Thr614Ala) c.25480A>G (p.Thr8494Ala) c.25468A>G (p.Thr8490Ala) c.25459A>G (p.Thr8487Ala) c.25429A>G (p.Thr8477Ala) c.25465A>G (p.Thr8489Ala) c.25411A>G (p.Thr8471Ala) c.25408A>G (p.Thr8470Ala) c.25396A>G (p.Thr8466Ala) c.25339A>G (p.Thr8447Ala) c.25327A>G (p.Thr8443Ala) c.25324A>G (p.Thr8442Ala) c.25321A>G (p.Thr8441Ala) c.25477A>G (p.Thr8493Ala) c.25315A>G (p.Thr8439Ala) c.23755A>G (p.Thr7919Ala) c.23248A>G (p.Thr7750Ala) c.18715A>G (p.Thr6239Ala) c.1981A>G (p.Thr661Ala) c.25453A>G (p.Thr8485Ala) c.25402A>G (p.Thr8468Ala) c.25255A>G (p.Thr8419Ala) | |
| 6 | g.152140033T>G | CA4052858 | SYNE1 | c.1909A>C (p.Thr637Pro) c.25375A>C (p.Thr8459Pro) c.25231A>C (p.Thr8411Pro) c.777A>C c.1110A>C c.1019A>C c.1147A>C (p.Thr383Pro) c.24160A>C (p.Thr8054Pro) n.2123A>C c.4210A>C (p.Thr1404Pro) n.9067A>C c.3313A>C (p.Thr1105Pro) n.8959A>C n.1989A>C n.4397A>C n.2212A>C c.1840A>C (p.Thr614Pro) c.25480A>C (p.Thr8494Pro) c.25468A>C (p.Thr8490Pro) c.25459A>C (p.Thr8487Pro) c.25429A>C (p.Thr8477Pro) c.25465A>C (p.Thr8489Pro) c.25411A>C (p.Thr8471Pro) c.25408A>C (p.Thr8470Pro) c.25396A>C (p.Thr8466Pro) c.25339A>C (p.Thr8447Pro) c.25327A>C (p.Thr8443Pro) c.25324A>C (p.Thr8442Pro) c.25321A>C (p.Thr8441Pro) c.25477A>C (p.Thr8493Pro) c.25315A>C (p.Thr8439Pro) c.23755A>C (p.Thr7919Pro) c.23248A>C (p.Thr7750Pro) c.18715A>C (p.Thr6239Pro) c.1981A>C (p.Thr661Pro) c.25453A>C (p.Thr8485Pro) c.25402A>C (p.Thr8468Pro) c.25255A>C (p.Thr8419Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152140033T= | CA1673206275 | SYNE1 | c.1909A= (p.Thr637=) c.25375A= (p.Thr8459=) c.25231A= (p.Thr8411=) c.777A= c.1110A= c.1019A= c.1147A= (p.Thr383=) c.24160A= (p.Thr8054=) n.2123A= c.4210A= (p.Thr1404=) n.9067A= c.3313A= (p.Thr1105=) n.8959A= n.1989A= n.4397A= n.2212A= c.1840A= (p.Thr614=) c.25480A= (p.Thr8494=) c.25468A= (p.Thr8490=) c.25459A= (p.Thr8487=) c.25429A= (p.Thr8477=) c.25465A= (p.Thr8489=) c.25411A= (p.Thr8471=) c.25408A= (p.Thr8470=) c.25396A= (p.Thr8466=) c.25339A= (p.Thr8447=) c.25327A= (p.Thr8443=) c.25324A= (p.Thr8442=) c.25321A= (p.Thr8441=) c.25477A= (p.Thr8493=) c.25315A= (p.Thr8439=) c.23755A= (p.Thr7919=) c.23248A= (p.Thr7750=) c.18715A= (p.Thr6239=) c.1981A= (p.Thr661=) c.25453A= (p.Thr8485=) c.25402A= (p.Thr8468=) c.25255A= (p.Thr8419=) | |
| 6 | g.152140034G>A | CA452969866 | SYNE1 | c.1908C>T (p.Asp636=) c.25374C>T (p.Asp8458=) c.25230C>T (p.Asp8410=) c.776C>T c.1109C>T c.1018C>T c.1146C>T (p.Asp382=) c.24159C>T (p.Asp8053=) n.2122C>T c.4209C>T (p.Asp1403=) n.9066C>T c.3312C>T (p.Asp1104=) n.8958C>T n.1988C>T n.4396C>T n.2211C>T c.1839C>T (p.Asp613=) c.25479C>T (p.Asp8493=) c.25467C>T (p.Asp8489=) c.25458C>T (p.Asp8486=) c.25428C>T (p.Asp8476=) c.25464C>T (p.Asp8488=) c.25410C>T (p.Asp8470=) c.25407C>T (p.Asp8469=) c.25395C>T (p.Asp8465=) c.25338C>T (p.Asp8446=) c.25326C>T (p.Asp8442=) c.25323C>T (p.Asp8441=) c.25320C>T (p.Asp8440=) c.25476C>T (p.Asp8492=) c.25314C>T (p.Asp8438=) c.23754C>T (p.Asp7918=) c.23247C>T (p.Asp7749=) c.18714C>T (p.Asp6238=) c.1980C>T (p.Asp660=) c.25452C>T (p.Asp8484=) c.25401C>T (p.Asp8467=) c.25254C>T (p.Asp8418=) | |
| 6 | g.152140034G>C | CA366080247 | SYNE1 | c.1908C>G (p.Asp636Glu) c.25374C>G (p.Asp8458Glu) c.25230C>G (p.Asp8410Glu) c.776C>G c.1109C>G c.1018C>G c.1146C>G (p.Asp382Glu) c.24159C>G (p.Asp8053Glu) n.2122C>G c.4209C>G (p.Asp1403Glu) n.9066C>G c.3312C>G (p.Asp1104Glu) n.8958C>G n.1988C>G n.4396C>G n.2211C>G c.1839C>G (p.Asp613Glu) c.25479C>G (p.Asp8493Glu) c.25467C>G (p.Asp8489Glu) c.25458C>G (p.Asp8486Glu) c.25428C>G (p.Asp8476Glu) c.25464C>G (p.Asp8488Glu) c.25410C>G (p.Asp8470Glu) c.25407C>G (p.Asp8469Glu) c.25395C>G (p.Asp8465Glu) c.25338C>G (p.Asp8446Glu) c.25326C>G (p.Asp8442Glu) c.25323C>G (p.Asp8441Glu) c.25320C>G (p.Asp8440Glu) c.25476C>G (p.Asp8492Glu) c.25314C>G (p.Asp8438Glu) c.23754C>G (p.Asp7918Glu) c.23247C>G (p.Asp7749Glu) c.18714C>G (p.Asp6238Glu) c.1980C>G (p.Asp660Glu) c.25452C>G (p.Asp8484Glu) c.25401C>G (p.Asp8467Glu) c.25254C>G (p.Asp8418Glu) | |
| 6 | g.152140034G>T | CA366080249 | SYNE1 | c.1908C>A (p.Asp636Glu) c.25374C>A (p.Asp8458Glu) c.25230C>A (p.Asp8410Glu) c.776C>A c.1109C>A c.1018C>A c.1146C>A (p.Asp382Glu) c.24159C>A (p.Asp8053Glu) n.2122C>A c.4209C>A (p.Asp1403Glu) n.9066C>A c.3312C>A (p.Asp1104Glu) n.8958C>A n.1988C>A n.4396C>A n.2211C>A c.1839C>A (p.Asp613Glu) c.25479C>A (p.Asp8493Glu) c.25467C>A (p.Asp8489Glu) c.25458C>A (p.Asp8486Glu) c.25428C>A (p.Asp8476Glu) c.25464C>A (p.Asp8488Glu) c.25410C>A (p.Asp8470Glu) c.25407C>A (p.Asp8469Glu) c.25395C>A (p.Asp8465Glu) c.25338C>A (p.Asp8446Glu) c.25326C>A (p.Asp8442Glu) c.25323C>A (p.Asp8441Glu) c.25320C>A (p.Asp8440Glu) c.25476C>A (p.Asp8492Glu) c.25314C>A (p.Asp8438Glu) c.23754C>A (p.Asp7918Glu) c.23247C>A (p.Asp7749Glu) c.18714C>A (p.Asp6238Glu) c.1980C>A (p.Asp660Glu) c.25452C>A (p.Asp8484Glu) c.25401C>A (p.Asp8467Glu) c.25254C>A (p.Asp8418Glu) | |
| 6 | g.152140035T>A | CA366080251 | SYNE1 | c.1907A>T (p.Asp636Val) c.25373A>T (p.Asp8458Val) c.25229A>T (p.Asp8410Val) c.775A>T c.1108A>T c.1017A>T c.1145A>T (p.Asp382Val) c.24158A>T (p.Asp8053Val) n.2121A>T c.4208A>T (p.Asp1403Val) n.9065A>T c.3311A>T (p.Asp1104Val) n.8957A>T n.1987A>T n.4395A>T n.2210A>T c.1838A>T (p.Asp613Val) c.25478A>T (p.Asp8493Val) c.25466A>T (p.Asp8489Val) c.25457A>T (p.Asp8486Val) c.25427A>T (p.Asp8476Val) c.25463A>T (p.Asp8488Val) c.25409A>T (p.Asp8470Val) c.25406A>T (p.Asp8469Val) c.25394A>T (p.Asp8465Val) c.25337A>T (p.Asp8446Val) c.25325A>T (p.Asp8442Val) c.25322A>T (p.Asp8441Val) c.25319A>T (p.Asp8440Val) c.25475A>T (p.Asp8492Val) c.25313A>T (p.Asp8438Val) c.23753A>T (p.Asp7918Val) c.23246A>T (p.Asp7749Val) c.18713A>T (p.Asp6238Val) c.1979A>T (p.Asp660Val) c.25451A>T (p.Asp8484Val) c.25400A>T (p.Asp8467Val) c.25253A>T (p.Asp8418Val) | |
| 6 | g.152140035T>C | CA366080252 | SYNE1 | c.1907A>G (p.Asp636Gly) c.25373A>G (p.Asp8458Gly) c.25229A>G (p.Asp8410Gly) c.775A>G c.1108A>G c.1017A>G c.1145A>G (p.Asp382Gly) c.24158A>G (p.Asp8053Gly) n.2121A>G c.4208A>G (p.Asp1403Gly) n.9065A>G c.3311A>G (p.Asp1104Gly) n.8957A>G n.1987A>G n.4395A>G n.2210A>G c.1838A>G (p.Asp613Gly) c.25478A>G (p.Asp8493Gly) c.25466A>G (p.Asp8489Gly) c.25457A>G (p.Asp8486Gly) c.25427A>G (p.Asp8476Gly) c.25463A>G (p.Asp8488Gly) c.25409A>G (p.Asp8470Gly) c.25406A>G (p.Asp8469Gly) c.25394A>G (p.Asp8465Gly) c.25337A>G (p.Asp8446Gly) c.25325A>G (p.Asp8442Gly) c.25322A>G (p.Asp8441Gly) c.25319A>G (p.Asp8440Gly) c.25475A>G (p.Asp8492Gly) c.25313A>G (p.Asp8438Gly) c.23753A>G (p.Asp7918Gly) c.23246A>G (p.Asp7749Gly) c.18713A>G (p.Asp6238Gly) c.1979A>G (p.Asp660Gly) c.25451A>G (p.Asp8484Gly) c.25400A>G (p.Asp8467Gly) c.25253A>G (p.Asp8418Gly) | gnomAD v3 gnomAD v4 |
| 6 | g.152140035T>G | CA366080254 | SYNE1 | c.1907A>C (p.Asp636Ala) c.25373A>C (p.Asp8458Ala) c.25229A>C (p.Asp8410Ala) c.775A>C c.1108A>C c.1017A>C c.1145A>C (p.Asp382Ala) c.24158A>C (p.Asp8053Ala) n.2121A>C c.4208A>C (p.Asp1403Ala) n.9065A>C c.3311A>C (p.Asp1104Ala) n.8957A>C n.1987A>C n.4395A>C n.2210A>C c.1838A>C (p.Asp613Ala) c.25478A>C (p.Asp8493Ala) c.25466A>C (p.Asp8489Ala) c.25457A>C (p.Asp8486Ala) c.25427A>C (p.Asp8476Ala) c.25463A>C (p.Asp8488Ala) c.25409A>C (p.Asp8470Ala) c.25406A>C (p.Asp8469Ala) c.25394A>C (p.Asp8465Ala) c.25337A>C (p.Asp8446Ala) c.25325A>C (p.Asp8442Ala) c.25322A>C (p.Asp8441Ala) c.25319A>C (p.Asp8440Ala) c.25475A>C (p.Asp8492Ala) c.25313A>C (p.Asp8438Ala) c.23753A>C (p.Asp7918Ala) c.23246A>C (p.Asp7749Ala) c.18713A>C (p.Asp6238Ala) c.1979A>C (p.Asp660Ala) c.25451A>C (p.Asp8484Ala) c.25400A>C (p.Asp8467Ala) c.25253A>C (p.Asp8418Ala) | |
| 6 | g.152140036C>A | CA366080259 | SYNE1 | c.1906G>T (p.Asp636Tyr) c.25372G>T (p.Asp8458Tyr) c.25228G>T (p.Asp8410Tyr) c.774G>T c.1107G>T c.1016G>T c.1144G>T (p.Asp382Tyr) c.24157G>T (p.Asp8053Tyr) n.2120G>T c.4207G>T (p.Asp1403Tyr) n.9064G>T c.3310G>T (p.Asp1104Tyr) n.8956G>T n.1986G>T n.4394G>T n.2209G>T c.1837G>T (p.Asp613Tyr) c.25477G>T (p.Asp8493Tyr) c.25465G>T (p.Asp8489Tyr) c.25456G>T (p.Asp8486Tyr) c.25426G>T (p.Asp8476Tyr) c.25462G>T (p.Asp8488Tyr) c.25408G>T (p.Asp8470Tyr) c.25405G>T (p.Asp8469Tyr) c.25393G>T (p.Asp8465Tyr) c.25336G>T (p.Asp8446Tyr) c.25324G>T (p.Asp8442Tyr) c.25321G>T (p.Asp8441Tyr) c.25318G>T (p.Asp8440Tyr) c.25474G>T (p.Asp8492Tyr) c.25312G>T (p.Asp8438Tyr) c.23752G>T (p.Asp7918Tyr) c.23245G>T (p.Asp7749Tyr) c.18712G>T (p.Asp6238Tyr) c.1978G>T (p.Asp660Tyr) c.25450G>T (p.Asp8484Tyr) c.25399G>T (p.Asp8467Tyr) c.25252G>T (p.Asp8418Tyr) | |
| 6 | g.152140036C>G | CA366080258 | SYNE1 | c.1906G>C (p.Asp636His) c.25372G>C (p.Asp8458His) c.25228G>C (p.Asp8410His) c.774G>C c.1107G>C c.1016G>C c.1144G>C (p.Asp382His) c.24157G>C (p.Asp8053His) n.2120G>C c.4207G>C (p.Asp1403His) n.9064G>C c.3310G>C (p.Asp1104His) n.8956G>C n.1986G>C n.4394G>C n.2209G>C c.1837G>C (p.Asp613His) c.25477G>C (p.Asp8493His) c.25465G>C (p.Asp8489His) c.25456G>C (p.Asp8486His) c.25426G>C (p.Asp8476His) c.25462G>C (p.Asp8488His) c.25408G>C (p.Asp8470His) c.25405G>C (p.Asp8469His) c.25393G>C (p.Asp8465His) c.25336G>C (p.Asp8446His) c.25324G>C (p.Asp8442His) c.25321G>C (p.Asp8441His) c.25318G>C (p.Asp8440His) c.25474G>C (p.Asp8492His) c.25312G>C (p.Asp8438His) c.23752G>C (p.Asp7918His) c.23245G>C (p.Asp7749His) c.18712G>C (p.Asp6238His) c.1978G>C (p.Asp660His) c.25450G>C (p.Asp8484His) c.25399G>C (p.Asp8467His) c.25252G>C (p.Asp8418His) | |
| 6 | g.152140036C>T | CA366080256 | SYNE1 | c.1906G>A (p.Asp636Asn) c.25372G>A (p.Asp8458Asn) c.25228G>A (p.Asp8410Asn) c.774G>A c.1107G>A c.1016G>A c.1144G>A (p.Asp382Asn) c.24157G>A (p.Asp8053Asn) n.2120G>A c.4207G>A (p.Asp1403Asn) n.9064G>A c.3310G>A (p.Asp1104Asn) n.8956G>A n.1986G>A n.4394G>A n.2209G>A c.1837G>A (p.Asp613Asn) c.25477G>A (p.Asp8493Asn) c.25465G>A (p.Asp8489Asn) c.25456G>A (p.Asp8486Asn) c.25426G>A (p.Asp8476Asn) c.25462G>A (p.Asp8488Asn) c.25408G>A (p.Asp8470Asn) c.25405G>A (p.Asp8469Asn) c.25393G>A (p.Asp8465Asn) c.25336G>A (p.Asp8446Asn) c.25324G>A (p.Asp8442Asn) c.25321G>A (p.Asp8441Asn) c.25318G>A (p.Asp8440Asn) c.25474G>A (p.Asp8492Asn) c.25312G>A (p.Asp8438Asn) c.23752G>A (p.Asp7918Asn) c.23245G>A (p.Asp7749Asn) c.18712G>A (p.Asp6238Asn) c.1978G>A (p.Asp660Asn) c.25450G>A (p.Asp8484Asn) c.25399G>A (p.Asp8467Asn) c.25252G>A (p.Asp8418Asn) | |
| 6 | g.152140037C>A | CA452969868 | SYNE1 | c.1905G>T (p.Gly635=) c.25371G>T (p.Gly8457=) c.25227G>T (p.Gly8409=) c.773G>T c.1106G>T c.1015G>T c.1143G>T (p.Gly381=) c.24156G>T (p.Gly8052=) n.2119G>T c.4206G>T (p.Gly1402=) n.9063G>T c.3309G>T (p.Gly1103=) n.8955G>T n.1985G>T n.4393G>T n.2208G>T c.1836G>T (p.Gly612=) c.25476G>T (p.Gly8492=) c.25464G>T (p.Gly8488=) c.25455G>T (p.Gly8485=) c.25425G>T (p.Gly8475=) c.25461G>T (p.Gly8487=) c.25407G>T (p.Gly8469=) c.25404G>T (p.Gly8468=) c.25392G>T (p.Gly8464=) c.25335G>T (p.Gly8445=) c.25323G>T (p.Gly8441=) c.25320G>T (p.Gly8440=) c.25317G>T (p.Gly8439=) c.25473G>T (p.Gly8491=) c.25311G>T (p.Gly8437=) c.23751G>T (p.Gly7917=) c.23244G>T (p.Gly7748=) c.18711G>T (p.Gly6237=) c.1977G>T (p.Gly659=) c.25449G>T (p.Gly8483=) c.25398G>T (p.Gly8466=) c.25251G>T (p.Gly8417=) | |
| 6 | g.152140037C= | CA1673206279 | SYNE1 | c.1905G= (p.Gly635=) c.25371G= (p.Gly8457=) c.25227G= (p.Gly8409=) c.773G= c.1106G= c.1015G= c.1143G= (p.Gly381=) c.24156G= (p.Gly8052=) n.2119G= c.4206G= (p.Gly1402=) n.9063G= c.3309G= (p.Gly1103=) n.8955G= n.1985G= n.4393G= n.2208G= c.1836G= (p.Gly612=) c.25476G= (p.Gly8492=) c.25464G= (p.Gly8488=) c.25455G= (p.Gly8485=) c.25425G= (p.Gly8475=) c.25461G= (p.Gly8487=) c.25407G= (p.Gly8469=) c.25404G= (p.Gly8468=) c.25392G= (p.Gly8464=) c.25335G= (p.Gly8445=) c.25323G= (p.Gly8441=) c.25320G= (p.Gly8440=) c.25317G= (p.Gly8439=) c.25473G= (p.Gly8491=) c.25311G= (p.Gly8437=) c.23751G= (p.Gly7917=) c.23244G= (p.Gly7748=) c.18711G= (p.Gly6237=) c.1977G= (p.Gly659=) c.25449G= (p.Gly8483=) c.25398G= (p.Gly8466=) c.25251G= (p.Gly8417=) | |
| 6 | g.152140037C>G | CA452969869 | SYNE1 | c.1905G>C (p.Gly635=) c.25371G>C (p.Gly8457=) c.25227G>C (p.Gly8409=) c.773G>C c.1106G>C c.1015G>C c.1143G>C (p.Gly381=) c.24156G>C (p.Gly8052=) n.2119G>C c.4206G>C (p.Gly1402=) n.9063G>C c.3309G>C (p.Gly1103=) n.8955G>C n.1985G>C n.4393G>C n.2208G>C c.1836G>C (p.Gly612=) c.25476G>C (p.Gly8492=) c.25464G>C (p.Gly8488=) c.25455G>C (p.Gly8485=) c.25425G>C (p.Gly8475=) c.25461G>C (p.Gly8487=) c.25407G>C (p.Gly8469=) c.25404G>C (p.Gly8468=) c.25392G>C (p.Gly8464=) c.25335G>C (p.Gly8445=) c.25323G>C (p.Gly8441=) c.25320G>C (p.Gly8440=) c.25317G>C (p.Gly8439=) c.25473G>C (p.Gly8491=) c.25311G>C (p.Gly8437=) c.23751G>C (p.Gly7917=) c.23244G>C (p.Gly7748=) c.18711G>C (p.Gly6237=) c.1977G>C (p.Gly659=) c.25449G>C (p.Gly8483=) c.25398G>C (p.Gly8466=) c.25251G>C (p.Gly8417=) | |
| 6 | g.152140037C>T | CA452969870 | SYNE1 | c.1905G>A (p.Gly635=) c.25371G>A (p.Gly8457=) c.25227G>A (p.Gly8409=) c.773G>A c.1106G>A c.1015G>A c.1143G>A (p.Gly381=) c.24156G>A (p.Gly8052=) n.2119G>A c.4206G>A (p.Gly1402=) n.9063G>A c.3309G>A (p.Gly1103=) n.8955G>A n.1985G>A n.4393G>A n.2208G>A c.1836G>A (p.Gly612=) c.25476G>A (p.Gly8492=) c.25464G>A (p.Gly8488=) c.25455G>A (p.Gly8485=) c.25425G>A (p.Gly8475=) c.25461G>A (p.Gly8487=) c.25407G>A (p.Gly8469=) c.25404G>A (p.Gly8468=) c.25392G>A (p.Gly8464=) c.25335G>A (p.Gly8445=) c.25323G>A (p.Gly8441=) c.25320G>A (p.Gly8440=) c.25317G>A (p.Gly8439=) c.25473G>A (p.Gly8491=) c.25311G>A (p.Gly8437=) c.23751G>A (p.Gly7917=) c.23244G>A (p.Gly7748=) c.18711G>A (p.Gly6237=) c.1977G>A (p.Gly659=) c.25449G>A (p.Gly8483=) c.25398G>A (p.Gly8466=) c.25251G>A (p.Gly8417=) | dbSNP |
| 6 | g.152140038C>A | CA366080260 | SYNE1 | c.1904G>T (p.Gly635Val) c.25370G>T (p.Gly8457Val) c.25226G>T (p.Gly8409Val) c.772G>T c.1105G>T c.1014G>T c.1142G>T (p.Gly381Val) c.24155G>T (p.Gly8052Val) n.2118G>T c.4205G>T (p.Gly1402Val) n.9062G>T c.3308G>T (p.Gly1103Val) n.8954G>T n.1984G>T n.4392G>T n.2207G>T c.1835G>T (p.Gly612Val) c.25475G>T (p.Gly8492Val) c.25463G>T (p.Gly8488Val) c.25454G>T (p.Gly8485Val) c.25424G>T (p.Gly8475Val) c.25460G>T (p.Gly8487Val) c.25406G>T (p.Gly8469Val) c.25403G>T (p.Gly8468Val) c.25391G>T (p.Gly8464Val) c.25334G>T (p.Gly8445Val) c.25322G>T (p.Gly8441Val) c.25319G>T (p.Gly8440Val) c.25316G>T (p.Gly8439Val) c.25472G>T (p.Gly8491Val) c.25310G>T (p.Gly8437Val) c.23750G>T (p.Gly7917Val) c.23243G>T (p.Gly7748Val) c.18710G>T (p.Gly6237Val) c.1976G>T (p.Gly659Val) c.25448G>T (p.Gly8483Val) c.25397G>T (p.Gly8466Val) c.25250G>T (p.Gly8417Val) | |
| 6 | g.152140038C= | CA1673206282 | SYNE1 | c.1904G= (p.Gly635=) c.25370G= (p.Gly8457=) c.25226G= (p.Gly8409=) c.772G= c.1105G= c.1014G= c.1142G= (p.Gly381=) c.24155G= (p.Gly8052=) n.2118G= c.4205G= (p.Gly1402=) n.9062G= c.3308G= (p.Gly1103=) n.8954G= n.1984G= n.4392G= n.2207G= c.1835G= (p.Gly612=) c.25475G= (p.Gly8492=) c.25463G= (p.Gly8488=) c.25454G= (p.Gly8485=) c.25424G= (p.Gly8475=) c.25460G= (p.Gly8487=) c.25406G= (p.Gly8469=) c.25403G= (p.Gly8468=) c.25391G= (p.Gly8464=) c.25334G= (p.Gly8445=) c.25322G= (p.Gly8441=) c.25319G= (p.Gly8440=) c.25316G= (p.Gly8439=) c.25472G= (p.Gly8491=) c.25310G= (p.Gly8437=) c.23750G= (p.Gly7917=) c.23243G= (p.Gly7748=) c.18710G= (p.Gly6237=) c.1976G= (p.Gly659=) c.25448G= (p.Gly8483=) c.25397G= (p.Gly8466=) c.25250G= (p.Gly8417=) | |
| 6 | g.152140038C>G | CA366080263 | SYNE1 | c.1904G>C (p.Gly635Ala) c.25370G>C (p.Gly8457Ala) c.25226G>C (p.Gly8409Ala) c.772G>C c.1105G>C c.1014G>C c.1142G>C (p.Gly381Ala) c.24155G>C (p.Gly8052Ala) n.2118G>C c.4205G>C (p.Gly1402Ala) n.9062G>C c.3308G>C (p.Gly1103Ala) n.8954G>C n.1984G>C n.4392G>C n.2207G>C c.1835G>C (p.Gly612Ala) c.25475G>C (p.Gly8492Ala) c.25463G>C (p.Gly8488Ala) c.25454G>C (p.Gly8485Ala) c.25424G>C (p.Gly8475Ala) c.25460G>C (p.Gly8487Ala) c.25406G>C (p.Gly8469Ala) c.25403G>C (p.Gly8468Ala) c.25391G>C (p.Gly8464Ala) c.25334G>C (p.Gly8445Ala) c.25322G>C (p.Gly8441Ala) c.25319G>C (p.Gly8440Ala) c.25316G>C (p.Gly8439Ala) c.25472G>C (p.Gly8491Ala) c.25310G>C (p.Gly8437Ala) c.23750G>C (p.Gly7917Ala) c.23243G>C (p.Gly7748Ala) c.18710G>C (p.Gly6237Ala) c.1976G>C (p.Gly659Ala) c.25448G>C (p.Gly8483Ala) c.25397G>C (p.Gly8466Ala) c.25250G>C (p.Gly8417Ala) | |
| 6 | g.152140038C>T | CA4052859 | SYNE1 | c.1904G>A (p.Gly635Glu) c.25370G>A (p.Gly8457Glu) c.25226G>A (p.Gly8409Glu) c.772G>A c.1105G>A c.1014G>A c.1142G>A (p.Gly381Glu) c.24155G>A (p.Gly8052Glu) n.2118G>A c.4205G>A (p.Gly1402Glu) n.9062G>A c.3308G>A (p.Gly1103Glu) n.8954G>A n.1984G>A n.4392G>A n.2207G>A c.1835G>A (p.Gly612Glu) c.25475G>A (p.Gly8492Glu) c.25463G>A (p.Gly8488Glu) c.25454G>A (p.Gly8485Glu) c.25424G>A (p.Gly8475Glu) c.25460G>A (p.Gly8487Glu) c.25406G>A (p.Gly8469Glu) c.25403G>A (p.Gly8468Glu) c.25391G>A (p.Gly8464Glu) c.25334G>A (p.Gly8445Glu) c.25322G>A (p.Gly8441Glu) c.25319G>A (p.Gly8440Glu) c.25316G>A (p.Gly8439Glu) c.25472G>A (p.Gly8491Glu) c.25310G>A (p.Gly8437Glu) c.23750G>A (p.Gly7917Glu) c.23243G>A (p.Gly7748Glu) c.18710G>A (p.Gly6237Glu) c.1976G>A (p.Gly659Glu) c.25448G>A (p.Gly8483Glu) c.25397G>A (p.Gly8466Glu) c.25250G>A (p.Gly8417Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152140039C>A | CA366080271 | SYNE1 | c.1903G>T (p.Gly635Trp) c.25369G>T (p.Gly8457Trp) c.25225G>T (p.Gly8409Trp) c.771G>T c.1104G>T c.1013G>T c.1141G>T (p.Gly381Trp) c.24154G>T (p.Gly8052Trp) n.2117G>T c.4204G>T (p.Gly1402Trp) n.9061G>T c.3307G>T (p.Gly1103Trp) n.8953G>T n.1983G>T n.4391G>T n.2206G>T c.1834G>T (p.Gly612Trp) c.25474G>T (p.Gly8492Trp) c.25462G>T (p.Gly8488Trp) c.25453G>T (p.Gly8485Trp) c.25423G>T (p.Gly8475Trp) c.25459G>T (p.Gly8487Trp) c.25405G>T (p.Gly8469Trp) c.25402G>T (p.Gly8468Trp) c.25390G>T (p.Gly8464Trp) c.25333G>T (p.Gly8445Trp) c.25321G>T (p.Gly8441Trp) c.25318G>T (p.Gly8440Trp) c.25315G>T (p.Gly8439Trp) c.25471G>T (p.Gly8491Trp) c.25309G>T (p.Gly8437Trp) c.23749G>T (p.Gly7917Trp) c.23242G>T (p.Gly7748Trp) c.18709G>T (p.Gly6237Trp) c.1975G>T (p.Gly659Trp) c.25447G>T (p.Gly8483Trp) c.25396G>T (p.Gly8466Trp) c.25249G>T (p.Gly8417Trp) | |
| 6 | g.152140039C>G | CA366080275 | SYNE1 | c.1903G>C (p.Gly635Arg) c.25369G>C (p.Gly8457Arg) c.25225G>C (p.Gly8409Arg) c.771G>C c.1104G>C c.1013G>C c.1141G>C (p.Gly381Arg) c.24154G>C (p.Gly8052Arg) n.2117G>C c.4204G>C (p.Gly1402Arg) n.9061G>C c.3307G>C (p.Gly1103Arg) n.8953G>C n.1983G>C n.4391G>C n.2206G>C c.1834G>C (p.Gly612Arg) c.25474G>C (p.Gly8492Arg) c.25462G>C (p.Gly8488Arg) c.25453G>C (p.Gly8485Arg) c.25423G>C (p.Gly8475Arg) c.25459G>C (p.Gly8487Arg) c.25405G>C (p.Gly8469Arg) c.25402G>C (p.Gly8468Arg) c.25390G>C (p.Gly8464Arg) c.25333G>C (p.Gly8445Arg) c.25321G>C (p.Gly8441Arg) c.25318G>C (p.Gly8440Arg) c.25315G>C (p.Gly8439Arg) c.25471G>C (p.Gly8491Arg) c.25309G>C (p.Gly8437Arg) c.23749G>C (p.Gly7917Arg) c.23242G>C (p.Gly7748Arg) c.18709G>C (p.Gly6237Arg) c.1975G>C (p.Gly659Arg) c.25447G>C (p.Gly8483Arg) c.25396G>C (p.Gly8466Arg) c.25249G>C (p.Gly8417Arg) | |
| 6 | g.152140039C>T | CA366080277 | SYNE1 | c.1903G>A (p.Gly635Arg) c.25369G>A (p.Gly8457Arg) c.25225G>A (p.Gly8409Arg) c.771G>A c.1104G>A c.1013G>A c.1141G>A (p.Gly381Arg) c.24154G>A (p.Gly8052Arg) n.2117G>A c.4204G>A (p.Gly1402Arg) n.9061G>A c.3307G>A (p.Gly1103Arg) n.8953G>A n.1983G>A n.4391G>A n.2206G>A c.1834G>A (p.Gly612Arg) c.25474G>A (p.Gly8492Arg) c.25462G>A (p.Gly8488Arg) c.25453G>A (p.Gly8485Arg) c.25423G>A (p.Gly8475Arg) c.25459G>A (p.Gly8487Arg) c.25405G>A (p.Gly8469Arg) c.25402G>A (p.Gly8468Arg) c.25390G>A (p.Gly8464Arg) c.25333G>A (p.Gly8445Arg) c.25321G>A (p.Gly8441Arg) c.25318G>A (p.Gly8440Arg) c.25315G>A (p.Gly8439Arg) c.25471G>A (p.Gly8491Arg) c.25309G>A (p.Gly8437Arg) c.23749G>A (p.Gly7917Arg) c.23242G>A (p.Gly7748Arg) c.18709G>A (p.Gly6237Arg) c.1975G>A (p.Gly659Arg) c.25447G>A (p.Gly8483Arg) c.25396G>A (p.Gly8466Arg) c.25249G>A (p.Gly8417Arg) | gnomAD v4 |
| 6 | g.152140040C>A | CA452969872 | SYNE1 | c.1902G>T (p.Leu634=) c.25368G>T (p.Leu8456=) c.25224G>T (p.Leu8408=) c.770G>T c.1103G>T c.1012G>T c.1140G>T (p.Leu380=) c.24153G>T (p.Leu8051=) n.2116G>T c.4203G>T (p.Leu1401=) n.9060G>T c.3306G>T (p.Leu1102=) n.8952G>T n.1982G>T n.4390G>T n.2205G>T c.1833G>T (p.Leu611=) c.25473G>T (p.Leu8491=) c.25461G>T (p.Leu8487=) c.25452G>T (p.Leu8484=) c.25422G>T (p.Leu8474=) c.25458G>T (p.Leu8486=) c.25404G>T (p.Leu8468=) c.25401G>T (p.Leu8467=) c.25389G>T (p.Leu8463=) c.25332G>T (p.Leu8444=) c.25320G>T (p.Leu8440=) c.25317G>T (p.Leu8439=) c.25314G>T (p.Leu8438=) c.25470G>T (p.Leu8490=) c.25308G>T (p.Leu8436=) c.23748G>T (p.Leu7916=) c.23241G>T (p.Leu7747=) c.18708G>T (p.Leu6236=) c.1974G>T (p.Leu658=) c.25446G>T (p.Leu8482=) c.25395G>T (p.Leu8465=) c.25248G>T (p.Leu8416=) | |
| 6 | g.152140040C>G | CA452969873 | SYNE1 | c.1902G>C (p.Leu634=) c.25368G>C (p.Leu8456=) c.25224G>C (p.Leu8408=) c.770G>C c.1103G>C c.1012G>C c.1140G>C (p.Leu380=) c.24153G>C (p.Leu8051=) n.2116G>C c.4203G>C (p.Leu1401=) n.9060G>C c.3306G>C (p.Leu1102=) n.8952G>C n.1982G>C n.4390G>C n.2205G>C c.1833G>C (p.Leu611=) c.25473G>C (p.Leu8491=) c.25461G>C (p.Leu8487=) c.25452G>C (p.Leu8484=) c.25422G>C (p.Leu8474=) c.25458G>C (p.Leu8486=) c.25404G>C (p.Leu8468=) c.25401G>C (p.Leu8467=) c.25389G>C (p.Leu8463=) c.25332G>C (p.Leu8444=) c.25320G>C (p.Leu8440=) c.25317G>C (p.Leu8439=) c.25314G>C (p.Leu8438=) c.25470G>C (p.Leu8490=) c.25308G>C (p.Leu8436=) c.23748G>C (p.Leu7916=) c.23241G>C (p.Leu7747=) c.18708G>C (p.Leu6236=) c.1974G>C (p.Leu658=) c.25446G>C (p.Leu8482=) c.25395G>C (p.Leu8465=) c.25248G>C (p.Leu8416=) | |
| 6 | g.152140040C>T | CA452969874 | SYNE1 | c.1902G>A (p.Leu634=) c.25368G>A (p.Leu8456=) c.25224G>A (p.Leu8408=) c.770G>A c.1103G>A c.1012G>A c.1140G>A (p.Leu380=) c.24153G>A (p.Leu8051=) n.2116G>A c.4203G>A (p.Leu1401=) n.9060G>A c.3306G>A (p.Leu1102=) n.8952G>A n.1982G>A n.4390G>A n.2205G>A c.1833G>A (p.Leu611=) c.25473G>A (p.Leu8491=) c.25461G>A (p.Leu8487=) c.25452G>A (p.Leu8484=) c.25422G>A (p.Leu8474=) c.25458G>A (p.Leu8486=) c.25404G>A (p.Leu8468=) c.25401G>A (p.Leu8467=) c.25389G>A (p.Leu8463=) c.25332G>A (p.Leu8444=) c.25320G>A (p.Leu8440=) c.25317G>A (p.Leu8439=) c.25314G>A (p.Leu8438=) c.25470G>A (p.Leu8490=) c.25308G>A (p.Leu8436=) c.23748G>A (p.Leu7916=) c.23241G>A (p.Leu7747=) c.18708G>A (p.Leu6236=) c.1974G>A (p.Leu658=) c.25446G>A (p.Leu8482=) c.25395G>A (p.Leu8465=) c.25248G>A (p.Leu8416=) | |
| 6 | g.152140041A= | CA1673206285 | SYNE1 | c.1901T= (p.Leu634=) c.25367T= (p.Leu8456=) c.25223T= (p.Leu8408=) c.769T= c.1102T= c.1011T= c.1139T= (p.Leu380=) c.24152T= (p.Leu8051=) n.2115T= c.4202T= (p.Leu1401=) n.9059T= c.3305T= (p.Leu1102=) n.8951T= n.1981T= n.4389T= n.2204T= c.1832T= (p.Leu611=) c.25472T= (p.Leu8491=) c.25460T= (p.Leu8487=) c.25451T= (p.Leu8484=) c.25421T= (p.Leu8474=) c.25457T= (p.Leu8486=) c.25403T= (p.Leu8468=) c.25400T= (p.Leu8467=) c.25388T= (p.Leu8463=) c.25331T= (p.Leu8444=) c.25319T= (p.Leu8440=) c.25316T= (p.Leu8439=) c.25313T= (p.Leu8438=) c.25469T= (p.Leu8490=) c.25307T= (p.Leu8436=) c.23747T= (p.Leu7916=) c.23240T= (p.Leu7747=) c.18707T= (p.Leu6236=) c.1973T= (p.Leu658=) c.25445T= (p.Leu8482=) c.25394T= (p.Leu8465=) c.25247T= (p.Leu8416=) | |
| 6 | g.152140041A>C | CA366080280 | SYNE1 | c.1901T>G (p.Leu634Arg) c.25367T>G (p.Leu8456Arg) c.25223T>G (p.Leu8408Arg) c.769T>G c.1102T>G c.1011T>G c.1139T>G (p.Leu380Arg) c.24152T>G (p.Leu8051Arg) n.2115T>G c.4202T>G (p.Leu1401Arg) n.9059T>G c.3305T>G (p.Leu1102Arg) n.8951T>G n.1981T>G n.4389T>G n.2204T>G c.1832T>G (p.Leu611Arg) c.25472T>G (p.Leu8491Arg) c.25460T>G (p.Leu8487Arg) c.25451T>G (p.Leu8484Arg) c.25421T>G (p.Leu8474Arg) c.25457T>G (p.Leu8486Arg) c.25403T>G (p.Leu8468Arg) c.25400T>G (p.Leu8467Arg) c.25388T>G (p.Leu8463Arg) c.25331T>G (p.Leu8444Arg) c.25319T>G (p.Leu8440Arg) c.25316T>G (p.Leu8439Arg) c.25313T>G (p.Leu8438Arg) c.25469T>G (p.Leu8490Arg) c.25307T>G (p.Leu8436Arg) c.23747T>G (p.Leu7916Arg) c.23240T>G (p.Leu7747Arg) c.18707T>G (p.Leu6236Arg) c.1973T>G (p.Leu658Arg) c.25445T>G (p.Leu8482Arg) c.25394T>G (p.Leu8465Arg) c.25247T>G (p.Leu8416Arg) | |
| 6 | g.152140041A>G | CA4052860 | SYNE1 | c.1901T>C (p.Leu634Pro) c.25367T>C (p.Leu8456Pro) c.25223T>C (p.Leu8408Pro) c.769T>C c.1102T>C c.1011T>C c.1139T>C (p.Leu380Pro) c.24152T>C (p.Leu8051Pro) n.2115T>C c.4202T>C (p.Leu1401Pro) n.9059T>C c.3305T>C (p.Leu1102Pro) n.8951T>C n.1981T>C n.4389T>C n.2204T>C c.1832T>C (p.Leu611Pro) c.25472T>C (p.Leu8491Pro) c.25460T>C (p.Leu8487Pro) c.25451T>C (p.Leu8484Pro) c.25421T>C (p.Leu8474Pro) c.25457T>C (p.Leu8486Pro) c.25403T>C (p.Leu8468Pro) c.25400T>C (p.Leu8467Pro) c.25388T>C (p.Leu8463Pro) c.25331T>C (p.Leu8444Pro) c.25319T>C (p.Leu8440Pro) c.25316T>C (p.Leu8439Pro) c.25313T>C (p.Leu8438Pro) c.25469T>C (p.Leu8490Pro) c.25307T>C (p.Leu8436Pro) c.23747T>C (p.Leu7916Pro) c.23240T>C (p.Leu7747Pro) c.18707T>C (p.Leu6236Pro) c.1973T>C (p.Leu658Pro) c.25445T>C (p.Leu8482Pro) c.25394T>C (p.Leu8465Pro) c.25247T>C (p.Leu8416Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152140041A>T | CA366080284 | SYNE1 | c.1901T>A (p.Leu634Gln) c.25367T>A (p.Leu8456Gln) c.25223T>A (p.Leu8408Gln) c.769T>A c.1102T>A c.1011T>A c.1139T>A (p.Leu380Gln) c.24152T>A (p.Leu8051Gln) n.2115T>A c.4202T>A (p.Leu1401Gln) n.9059T>A c.3305T>A (p.Leu1102Gln) n.8951T>A n.1981T>A n.4389T>A n.2204T>A c.1832T>A (p.Leu611Gln) c.25472T>A (p.Leu8491Gln) c.25460T>A (p.Leu8487Gln) c.25451T>A (p.Leu8484Gln) c.25421T>A (p.Leu8474Gln) c.25457T>A (p.Leu8486Gln) c.25403T>A (p.Leu8468Gln) c.25400T>A (p.Leu8467Gln) c.25388T>A (p.Leu8463Gln) c.25331T>A (p.Leu8444Gln) c.25319T>A (p.Leu8440Gln) c.25316T>A (p.Leu8439Gln) c.25313T>A (p.Leu8438Gln) c.25469T>A (p.Leu8490Gln) c.25307T>A (p.Leu8436Gln) c.23747T>A (p.Leu7916Gln) c.23240T>A (p.Leu7747Gln) c.18707T>A (p.Leu6236Gln) c.1973T>A (p.Leu658Gln) c.25445T>A (p.Leu8482Gln) c.25394T>A (p.Leu8465Gln) c.25247T>A (p.Leu8416Gln) | |
| 6 | g.152140042G>A | CA4052861 | SYNE1 | c.1900C>T (p.Leu634=) c.25366C>T (p.Leu8456=) c.25222C>T (p.Leu8408=) c.768C>T c.1101C>T c.1010C>T c.1138C>T (p.Leu380=) c.24151C>T (p.Leu8051=) n.2114C>T c.4201C>T (p.Leu1401=) n.9058C>T c.3304C>T (p.Leu1102=) n.8950C>T n.1980C>T n.4388C>T n.2203C>T c.1831C>T (p.Leu611=) c.25471C>T (p.Leu8491=) c.25459C>T (p.Leu8487=) c.25450C>T (p.Leu8484=) c.25420C>T (p.Leu8474=) c.25456C>T (p.Leu8486=) c.25402C>T (p.Leu8468=) c.25399C>T (p.Leu8467=) c.25387C>T (p.Leu8463=) c.25330C>T (p.Leu8444=) c.25318C>T (p.Leu8440=) c.25315C>T (p.Leu8439=) c.25312C>T (p.Leu8438=) c.25468C>T (p.Leu8490=) c.25306C>T (p.Leu8436=) c.23746C>T (p.Leu7916=) c.23239C>T (p.Leu7747=) c.18706C>T (p.Leu6236=) c.1972C>T (p.Leu658=) c.25444C>T (p.Leu8482=) c.25393C>T (p.Leu8465=) c.25246C>T (p.Leu8416=) | dbSNP ExAC gnomAD v4 |
| 6 | g.152140042G>C | CA366080289 | SYNE1 | c.1900C>G (p.Leu634Val) c.25366C>G (p.Leu8456Val) c.25222C>G (p.Leu8408Val) c.768C>G c.1101C>G c.1010C>G c.1138C>G (p.Leu380Val) c.24151C>G (p.Leu8051Val) n.2114C>G c.4201C>G (p.Leu1401Val) n.9058C>G c.3304C>G (p.Leu1102Val) n.8950C>G n.1980C>G n.4388C>G n.2203C>G c.1831C>G (p.Leu611Val) c.25471C>G (p.Leu8491Val) c.25459C>G (p.Leu8487Val) c.25450C>G (p.Leu8484Val) c.25420C>G (p.Leu8474Val) c.25456C>G (p.Leu8486Val) c.25402C>G (p.Leu8468Val) c.25399C>G (p.Leu8467Val) c.25387C>G (p.Leu8463Val) c.25330C>G (p.Leu8444Val) c.25318C>G (p.Leu8440Val) c.25315C>G (p.Leu8439Val) c.25312C>G (p.Leu8438Val) c.25468C>G (p.Leu8490Val) c.25306C>G (p.Leu8436Val) c.23746C>G (p.Leu7916Val) c.23239C>G (p.Leu7747Val) c.18706C>G (p.Leu6236Val) c.1972C>G (p.Leu658Val) c.25444C>G (p.Leu8482Val) c.25393C>G (p.Leu8465Val) c.25246C>G (p.Leu8416Val) | |
| 6 | g.152140042G= | CA1673206288 | SYNE1 | c.1900C= (p.Leu634=) c.25366C= (p.Leu8456=) c.25222C= (p.Leu8408=) c.768C= c.1101C= c.1010C= c.1138C= (p.Leu380=) c.24151C= (p.Leu8051=) n.2114C= c.4201C= (p.Leu1401=) n.9058C= c.3304C= (p.Leu1102=) n.8950C= n.1980C= n.4388C= n.2203C= c.1831C= (p.Leu611=) c.25471C= (p.Leu8491=) c.25459C= (p.Leu8487=) c.25450C= (p.Leu8484=) c.25420C= (p.Leu8474=) c.25456C= (p.Leu8486=) c.25402C= (p.Leu8468=) c.25399C= (p.Leu8467=) c.25387C= (p.Leu8463=) c.25330C= (p.Leu8444=) c.25318C= (p.Leu8440=) c.25315C= (p.Leu8439=) c.25312C= (p.Leu8438=) c.25468C= (p.Leu8490=) c.25306C= (p.Leu8436=) c.23746C= (p.Leu7916=) c.23239C= (p.Leu7747=) c.18706C= (p.Leu6236=) c.1972C= (p.Leu658=) c.25444C= (p.Leu8482=) c.25393C= (p.Leu8465=) c.25246C= (p.Leu8416=) | |
| 6 | g.152140042G>T | CA366080291 | SYNE1 | c.1900C>A (p.Leu634Met) c.25366C>A (p.Leu8456Met) c.25222C>A (p.Leu8408Met) c.768C>A c.1101C>A c.1010C>A c.1138C>A (p.Leu380Met) c.24151C>A (p.Leu8051Met) n.2114C>A c.4201C>A (p.Leu1401Met) n.9058C>A c.3304C>A (p.Leu1102Met) n.8950C>A n.1980C>A n.4388C>A n.2203C>A c.1831C>A (p.Leu611Met) c.25471C>A (p.Leu8491Met) c.25459C>A (p.Leu8487Met) c.25450C>A (p.Leu8484Met) c.25420C>A (p.Leu8474Met) c.25456C>A (p.Leu8486Met) c.25402C>A (p.Leu8468Met) c.25399C>A (p.Leu8467Met) c.25387C>A (p.Leu8463Met) c.25330C>A (p.Leu8444Met) c.25318C>A (p.Leu8440Met) c.25315C>A (p.Leu8439Met) c.25312C>A (p.Leu8438Met) c.25468C>A (p.Leu8490Met) c.25306C>A (p.Leu8436Met) c.23746C>A (p.Leu7916Met) c.23239C>A (p.Leu7747Met) c.18706C>A (p.Leu6236Met) c.1972C>A (p.Leu658Met) c.25444C>A (p.Leu8482Met) c.25393C>A (p.Leu8465Met) c.25246C>A (p.Leu8416Met) | |
| 6 | g.152140043C>A | CA366080294 | SYNE1 | c.1899G>T (p.Trp633Cys) c.25365G>T (p.Trp8455Cys) c.25221G>T (p.Trp8407Cys) c.767G>T c.1100G>T c.1009G>T c.1137G>T (p.Trp379Cys) c.24150G>T (p.Trp8050Cys) n.2113G>T c.4200G>T (p.Trp1400Cys) n.9057G>T c.3303G>T (p.Trp1101Cys) n.8949G>T n.1979G>T n.4387G>T n.2202G>T c.1830G>T (p.Trp610Cys) c.25470G>T (p.Trp8490Cys) c.25458G>T (p.Trp8486Cys) c.25449G>T (p.Trp8483Cys) c.25419G>T (p.Trp8473Cys) c.25455G>T (p.Trp8485Cys) c.25401G>T (p.Trp8467Cys) c.25398G>T (p.Trp8466Cys) c.25386G>T (p.Trp8462Cys) c.25329G>T (p.Trp8443Cys) c.25317G>T (p.Trp8439Cys) c.25314G>T (p.Trp8438Cys) c.25311G>T (p.Trp8437Cys) c.25467G>T (p.Trp8489Cys) c.25305G>T (p.Trp8435Cys) c.23745G>T (p.Trp7915Cys) c.23238G>T (p.Trp7746Cys) c.18705G>T (p.Trp6235Cys) c.1971G>T (p.Trp657Cys) c.25443G>T (p.Trp8481Cys) c.25392G>T (p.Trp8464Cys) c.25245G>T (p.Trp8415Cys) | |
| 6 | g.152140043C>G | CA366080298 | SYNE1 | c.1899G>C (p.Trp633Cys) c.25365G>C (p.Trp8455Cys) c.25221G>C (p.Trp8407Cys) c.767G>C c.1100G>C c.1009G>C c.1137G>C (p.Trp379Cys) c.24150G>C (p.Trp8050Cys) n.2113G>C c.4200G>C (p.Trp1400Cys) n.9057G>C c.3303G>C (p.Trp1101Cys) n.8949G>C n.1979G>C n.4387G>C n.2202G>C c.1830G>C (p.Trp610Cys) c.25470G>C (p.Trp8490Cys) c.25458G>C (p.Trp8486Cys) c.25449G>C (p.Trp8483Cys) c.25419G>C (p.Trp8473Cys) c.25455G>C (p.Trp8485Cys) c.25401G>C (p.Trp8467Cys) c.25398G>C (p.Trp8466Cys) c.25386G>C (p.Trp8462Cys) c.25329G>C (p.Trp8443Cys) c.25317G>C (p.Trp8439Cys) c.25314G>C (p.Trp8438Cys) c.25311G>C (p.Trp8437Cys) c.25467G>C (p.Trp8489Cys) c.25305G>C (p.Trp8435Cys) c.23745G>C (p.Trp7915Cys) c.23238G>C (p.Trp7746Cys) c.18705G>C (p.Trp6235Cys) c.1971G>C (p.Trp657Cys) c.25443G>C (p.Trp8481Cys) c.25392G>C (p.Trp8464Cys) c.25245G>C (p.Trp8415Cys) | |
| 6 | g.152140043C>T | CA366080296 | SYNE1 | c.1899G>A (p.Trp633Ter) c.25365G>A (p.Trp8455Ter) c.25221G>A (p.Trp8407Ter) c.767G>A c.1100G>A c.1009G>A c.1137G>A (p.Trp379Ter) c.24150G>A (p.Trp8050Ter) n.2113G>A c.4200G>A (p.Trp1400Ter) n.9057G>A c.3303G>A (p.Trp1101Ter) n.8949G>A n.1979G>A n.4387G>A n.2202G>A c.1830G>A (p.Trp610Ter) c.25470G>A (p.Trp8490Ter) c.25458G>A (p.Trp8486Ter) c.25449G>A (p.Trp8483Ter) c.25419G>A (p.Trp8473Ter) c.25455G>A (p.Trp8485Ter) c.25401G>A (p.Trp8467Ter) c.25398G>A (p.Trp8466Ter) c.25386G>A (p.Trp8462Ter) c.25329G>A (p.Trp8443Ter) c.25317G>A (p.Trp8439Ter) c.25314G>A (p.Trp8438Ter) c.25311G>A (p.Trp8437Ter) c.25467G>A (p.Trp8489Ter) c.25305G>A (p.Trp8435Ter) c.23745G>A (p.Trp7915Ter) c.23238G>A (p.Trp7746Ter) c.18705G>A (p.Trp6235Ter) c.1971G>A (p.Trp657Ter) c.25443G>A (p.Trp8481Ter) c.25392G>A (p.Trp8464Ter) c.25245G>A (p.Trp8415Ter) | gnomAD v4 |
| 6 | g.152140044C>A | CA366080301 | SYNE1 | c.1898G>T (p.Trp633Leu) c.25364G>T (p.Trp8455Leu) c.25220G>T (p.Trp8407Leu) c.766G>T c.1099G>T c.1008G>T c.1136G>T (p.Trp379Leu) c.24149G>T (p.Trp8050Leu) n.2112G>T c.4199G>T (p.Trp1400Leu) n.9056G>T c.3302G>T (p.Trp1101Leu) n.8948G>T n.1978G>T n.4386G>T n.2201G>T c.1829G>T (p.Trp610Leu) c.25469G>T (p.Trp8490Leu) c.25457G>T (p.Trp8486Leu) c.25448G>T (p.Trp8483Leu) c.25418G>T (p.Trp8473Leu) c.25454G>T (p.Trp8485Leu) c.25400G>T (p.Trp8467Leu) c.25397G>T (p.Trp8466Leu) c.25385G>T (p.Trp8462Leu) c.25328G>T (p.Trp8443Leu) c.25316G>T (p.Trp8439Leu) c.25313G>T (p.Trp8438Leu) c.25310G>T (p.Trp8437Leu) c.25466G>T (p.Trp8489Leu) c.25304G>T (p.Trp8435Leu) c.23744G>T (p.Trp7915Leu) c.23237G>T (p.Trp7746Leu) c.18704G>T (p.Trp6235Leu) c.1970G>T (p.Trp657Leu) c.25442G>T (p.Trp8481Leu) c.25391G>T (p.Trp8464Leu) c.25244G>T (p.Trp8415Leu) | |
| 6 | g.152140044C>G | CA366080306 | SYNE1 | c.1898G>C (p.Trp633Ser) c.25364G>C (p.Trp8455Ser) c.25220G>C (p.Trp8407Ser) c.766G>C c.1099G>C c.1008G>C c.1136G>C (p.Trp379Ser) c.24149G>C (p.Trp8050Ser) n.2112G>C c.4199G>C (p.Trp1400Ser) n.9056G>C c.3302G>C (p.Trp1101Ser) n.8948G>C n.1978G>C n.4386G>C n.2201G>C c.1829G>C (p.Trp610Ser) c.25469G>C (p.Trp8490Ser) c.25457G>C (p.Trp8486Ser) c.25448G>C (p.Trp8483Ser) c.25418G>C (p.Trp8473Ser) c.25454G>C (p.Trp8485Ser) c.25400G>C (p.Trp8467Ser) c.25397G>C (p.Trp8466Ser) c.25385G>C (p.Trp8462Ser) c.25328G>C (p.Trp8443Ser) c.25316G>C (p.Trp8439Ser) c.25313G>C (p.Trp8438Ser) c.25310G>C (p.Trp8437Ser) c.25466G>C (p.Trp8489Ser) c.25304G>C (p.Trp8435Ser) c.23744G>C (p.Trp7915Ser) c.23237G>C (p.Trp7746Ser) c.18704G>C (p.Trp6235Ser) c.1970G>C (p.Trp657Ser) c.25442G>C (p.Trp8481Ser) c.25391G>C (p.Trp8464Ser) c.25244G>C (p.Trp8415Ser) | |
| 6 | g.152140044C>T | CA366080304 | SYNE1 | c.1898G>A (p.Trp633Ter) c.25364G>A (p.Trp8455Ter) c.25220G>A (p.Trp8407Ter) c.766G>A c.1099G>A c.1008G>A c.1136G>A (p.Trp379Ter) c.24149G>A (p.Trp8050Ter) n.2112G>A c.4199G>A (p.Trp1400Ter) n.9056G>A c.3302G>A (p.Trp1101Ter) n.8948G>A n.1978G>A n.4386G>A n.2201G>A c.1829G>A (p.Trp610Ter) c.25469G>A (p.Trp8490Ter) c.25457G>A (p.Trp8486Ter) c.25448G>A (p.Trp8483Ter) c.25418G>A (p.Trp8473Ter) c.25454G>A (p.Trp8485Ter) c.25400G>A (p.Trp8467Ter) c.25397G>A (p.Trp8466Ter) c.25385G>A (p.Trp8462Ter) c.25328G>A (p.Trp8443Ter) c.25316G>A (p.Trp8439Ter) c.25313G>A (p.Trp8438Ter) c.25310G>A (p.Trp8437Ter) c.25466G>A (p.Trp8489Ter) c.25304G>A (p.Trp8435Ter) c.23744G>A (p.Trp7915Ter) c.23237G>A (p.Trp7746Ter) c.18704G>A (p.Trp6235Ter) c.1970G>A (p.Trp657Ter) c.25442G>A (p.Trp8481Ter) c.25391G>A (p.Trp8464Ter) c.25244G>A (p.Trp8415Ter) | |
| 6 | g.152140045A>C | CA366080309 | SYNE1 | c.1897T>G (p.Trp633Gly) c.25363T>G (p.Trp8455Gly) c.25219T>G (p.Trp8407Gly) c.765T>G c.1098T>G c.1007T>G c.1135T>G (p.Trp379Gly) c.24148T>G (p.Trp8050Gly) n.2111T>G c.4198T>G (p.Trp1400Gly) n.9055T>G c.3301T>G (p.Trp1101Gly) n.8947T>G n.1977T>G n.4385T>G n.2200T>G c.1828T>G (p.Trp610Gly) c.25468T>G (p.Trp8490Gly) c.25456T>G (p.Trp8486Gly) c.25447T>G (p.Trp8483Gly) c.25417T>G (p.Trp8473Gly) c.25453T>G (p.Trp8485Gly) c.25399T>G (p.Trp8467Gly) c.25396T>G (p.Trp8466Gly) c.25384T>G (p.Trp8462Gly) c.25327T>G (p.Trp8443Gly) c.25315T>G (p.Trp8439Gly) c.25312T>G (p.Trp8438Gly) c.25309T>G (p.Trp8437Gly) c.25465T>G (p.Trp8489Gly) c.25303T>G (p.Trp8435Gly) c.23743T>G (p.Trp7915Gly) c.23236T>G (p.Trp7746Gly) c.18703T>G (p.Trp6235Gly) c.1969T>G (p.Trp657Gly) c.25441T>G (p.Trp8481Gly) c.25390T>G (p.Trp8464Gly) c.25243T>G (p.Trp8415Gly) |