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.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) | |
| 6 | g.152140045A>G | CA366080311 | SYNE1 | c.1897T>C (p.Trp633Arg) c.25363T>C (p.Trp8455Arg) c.25219T>C (p.Trp8407Arg) c.765T>C c.1098T>C c.1007T>C c.1135T>C (p.Trp379Arg) c.24148T>C (p.Trp8050Arg) n.2111T>C c.4198T>C (p.Trp1400Arg) n.9055T>C c.3301T>C (p.Trp1101Arg) n.8947T>C n.1977T>C n.4385T>C n.2200T>C c.1828T>C (p.Trp610Arg) c.25468T>C (p.Trp8490Arg) c.25456T>C (p.Trp8486Arg) c.25447T>C (p.Trp8483Arg) c.25417T>C (p.Trp8473Arg) c.25453T>C (p.Trp8485Arg) c.25399T>C (p.Trp8467Arg) c.25396T>C (p.Trp8466Arg) c.25384T>C (p.Trp8462Arg) c.25327T>C (p.Trp8443Arg) c.25315T>C (p.Trp8439Arg) c.25312T>C (p.Trp8438Arg) c.25309T>C (p.Trp8437Arg) c.25465T>C (p.Trp8489Arg) c.25303T>C (p.Trp8435Arg) c.23743T>C (p.Trp7915Arg) c.23236T>C (p.Trp7746Arg) c.18703T>C (p.Trp6235Arg) c.1969T>C (p.Trp657Arg) c.25441T>C (p.Trp8481Arg) c.25390T>C (p.Trp8464Arg) c.25243T>C (p.Trp8415Arg) | |
| 6 | g.152140045A>T | CA366080313 | SYNE1 | c.1897T>A (p.Trp633Arg) c.25363T>A (p.Trp8455Arg) c.25219T>A (p.Trp8407Arg) c.765T>A c.1098T>A c.1007T>A c.1135T>A (p.Trp379Arg) c.24148T>A (p.Trp8050Arg) n.2111T>A c.4198T>A (p.Trp1400Arg) n.9055T>A c.3301T>A (p.Trp1101Arg) n.8947T>A n.1977T>A n.4385T>A n.2200T>A c.1828T>A (p.Trp610Arg) c.25468T>A (p.Trp8490Arg) c.25456T>A (p.Trp8486Arg) c.25447T>A (p.Trp8483Arg) c.25417T>A (p.Trp8473Arg) c.25453T>A (p.Trp8485Arg) c.25399T>A (p.Trp8467Arg) c.25396T>A (p.Trp8466Arg) c.25384T>A (p.Trp8462Arg) c.25327T>A (p.Trp8443Arg) c.25315T>A (p.Trp8439Arg) c.25312T>A (p.Trp8438Arg) c.25309T>A (p.Trp8437Arg) c.25465T>A (p.Trp8489Arg) c.25303T>A (p.Trp8435Arg) c.23743T>A (p.Trp7915Arg) c.23236T>A (p.Trp7746Arg) c.18703T>A (p.Trp6235Arg) c.1969T>A (p.Trp657Arg) c.25441T>A (p.Trp8481Arg) c.25390T>A (p.Trp8464Arg) c.25243T>A (p.Trp8415Arg) | |
| 6 | g.152140046G>A | CA4052862 | SYNE1 | c.1896C>T (p.Ala632=) c.25362C>T (p.Ala8454=) c.25218C>T (p.Ala8406=) c.764C>T c.1097C>T c.1006C>T c.1134C>T (p.Ala378=) c.24147C>T (p.Ala8049=) n.2110C>T c.4197C>T (p.Ala1399=) n.9054C>T c.3300C>T (p.Ala1100=) n.8946C>T n.1976C>T n.4384C>T n.2199C>T c.1827C>T (p.Ala609=) c.25467C>T (p.Ala8489=) c.25455C>T (p.Ala8485=) c.25446C>T (p.Ala8482=) c.25416C>T (p.Ala8472=) c.25452C>T (p.Ala8484=) c.25398C>T (p.Ala8466=) c.25395C>T (p.Ala8465=) c.25383C>T (p.Ala8461=) c.25326C>T (p.Ala8442=) c.25314C>T (p.Ala8438=) c.25311C>T (p.Ala8437=) c.25308C>T (p.Ala8436=) c.25464C>T (p.Ala8488=) c.25302C>T (p.Ala8434=) c.23742C>T (p.Ala7914=) c.23235C>T (p.Ala7745=) c.18702C>T (p.Ala6234=) c.1968C>T (p.Ala656=) c.25440C>T (p.Ala8480=) c.25389C>T (p.Ala8463=) c.25242C>T (p.Ala8414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152140046G>C | CA452969879 | SYNE1 | c.1896C>G (p.Ala632=) c.25362C>G (p.Ala8454=) c.25218C>G (p.Ala8406=) c.764C>G c.1097C>G c.1006C>G c.1134C>G (p.Ala378=) c.24147C>G (p.Ala8049=) n.2110C>G c.4197C>G (p.Ala1399=) n.9054C>G c.3300C>G (p.Ala1100=) n.8946C>G n.1976C>G n.4384C>G n.2199C>G c.1827C>G (p.Ala609=) c.25467C>G (p.Ala8489=) c.25455C>G (p.Ala8485=) c.25446C>G (p.Ala8482=) c.25416C>G (p.Ala8472=) c.25452C>G (p.Ala8484=) c.25398C>G (p.Ala8466=) c.25395C>G (p.Ala8465=) c.25383C>G (p.Ala8461=) c.25326C>G (p.Ala8442=) c.25314C>G (p.Ala8438=) c.25311C>G (p.Ala8437=) c.25308C>G (p.Ala8436=) c.25464C>G (p.Ala8488=) c.25302C>G (p.Ala8434=) c.23742C>G (p.Ala7914=) c.23235C>G (p.Ala7745=) c.18702C>G (p.Ala6234=) c.1968C>G (p.Ala656=) c.25440C>G (p.Ala8480=) c.25389C>G (p.Ala8463=) c.25242C>G (p.Ala8414=) | |
| 6 | g.152140046G= | CA1673206292 | SYNE1 | c.1896C= (p.Ala632=) c.25362C= (p.Ala8454=) c.25218C= (p.Ala8406=) c.764C= c.1097C= c.1006C= c.1134C= (p.Ala378=) c.24147C= (p.Ala8049=) n.2110C= c.4197C= (p.Ala1399=) n.9054C= c.3300C= (p.Ala1100=) n.8946C= n.1976C= n.4384C= n.2199C= c.1827C= (p.Ala609=) c.25467C= (p.Ala8489=) c.25455C= (p.Ala8485=) c.25446C= (p.Ala8482=) c.25416C= (p.Ala8472=) c.25452C= (p.Ala8484=) c.25398C= (p.Ala8466=) c.25395C= (p.Ala8465=) c.25383C= (p.Ala8461=) c.25326C= (p.Ala8442=) c.25314C= (p.Ala8438=) c.25311C= (p.Ala8437=) c.25308C= (p.Ala8436=) c.25464C= (p.Ala8488=) c.25302C= (p.Ala8434=) c.23742C= (p.Ala7914=) c.23235C= (p.Ala7745=) c.18702C= (p.Ala6234=) c.1968C= (p.Ala656=) c.25440C= (p.Ala8480=) c.25389C= (p.Ala8463=) c.25242C= (p.Ala8414=) | |
| 6 | g.152140046G>T | CA452969880 | SYNE1 | c.1896C>A (p.Ala632=) c.25362C>A (p.Ala8454=) c.25218C>A (p.Ala8406=) c.764C>A c.1097C>A c.1006C>A c.1134C>A (p.Ala378=) c.24147C>A (p.Ala8049=) n.2110C>A c.4197C>A (p.Ala1399=) n.9054C>A c.3300C>A (p.Ala1100=) n.8946C>A n.1976C>A n.4384C>A n.2199C>A c.1827C>A (p.Ala609=) c.25467C>A (p.Ala8489=) c.25455C>A (p.Ala8485=) c.25446C>A (p.Ala8482=) c.25416C>A (p.Ala8472=) c.25452C>A (p.Ala8484=) c.25398C>A (p.Ala8466=) c.25395C>A (p.Ala8465=) c.25383C>A (p.Ala8461=) c.25326C>A (p.Ala8442=) c.25314C>A (p.Ala8438=) c.25311C>A (p.Ala8437=) c.25308C>A (p.Ala8436=) c.25464C>A (p.Ala8488=) c.25302C>A (p.Ala8434=) c.23742C>A (p.Ala7914=) c.23235C>A (p.Ala7745=) c.18702C>A (p.Ala6234=) c.1968C>A (p.Ala656=) c.25440C>A (p.Ala8480=) c.25389C>A (p.Ala8463=) c.25242C>A (p.Ala8414=) | |
| 6 | g.152140047G>A | CA366080318 | SYNE1 | c.1895C>T (p.Ala632Val) c.25361C>T (p.Ala8454Val) c.25217C>T (p.Ala8406Val) c.763C>T c.1096C>T c.1005C>T c.1133C>T (p.Ala378Val) c.24146C>T (p.Ala8049Val) n.2109C>T c.4196C>T (p.Ala1399Val) n.9053C>T c.3299C>T (p.Ala1100Val) n.8945C>T n.1975C>T n.4383C>T n.2198C>T c.1826C>T (p.Ala609Val) c.25466C>T (p.Ala8489Val) c.25454C>T (p.Ala8485Val) c.25445C>T (p.Ala8482Val) c.25415C>T (p.Ala8472Val) c.25451C>T (p.Ala8484Val) c.25397C>T (p.Ala8466Val) c.25394C>T (p.Ala8465Val) c.25382C>T (p.Ala8461Val) c.25325C>T (p.Ala8442Val) c.25313C>T (p.Ala8438Val) c.25310C>T (p.Ala8437Val) c.25307C>T (p.Ala8436Val) c.25463C>T (p.Ala8488Val) c.25301C>T (p.Ala8434Val) c.23741C>T (p.Ala7914Val) c.23234C>T (p.Ala7745Val) c.18701C>T (p.Ala6234Val) c.1967C>T (p.Ala656Val) c.25439C>T (p.Ala8480Val) c.25388C>T (p.Ala8463Val) c.25241C>T (p.Ala8414Val) | |
| 6 | g.152140047G>C | CA366080319 | SYNE1 | c.1895C>G (p.Ala632Gly) c.25361C>G (p.Ala8454Gly) c.25217C>G (p.Ala8406Gly) c.763C>G c.1096C>G c.1005C>G c.1133C>G (p.Ala378Gly) c.24146C>G (p.Ala8049Gly) n.2109C>G c.4196C>G (p.Ala1399Gly) n.9053C>G c.3299C>G (p.Ala1100Gly) n.8945C>G n.1975C>G n.4383C>G n.2198C>G c.1826C>G (p.Ala609Gly) c.25466C>G (p.Ala8489Gly) c.25454C>G (p.Ala8485Gly) c.25445C>G (p.Ala8482Gly) c.25415C>G (p.Ala8472Gly) c.25451C>G (p.Ala8484Gly) c.25397C>G (p.Ala8466Gly) c.25394C>G (p.Ala8465Gly) c.25382C>G (p.Ala8461Gly) c.25325C>G (p.Ala8442Gly) c.25313C>G (p.Ala8438Gly) c.25310C>G (p.Ala8437Gly) c.25307C>G (p.Ala8436Gly) c.25463C>G (p.Ala8488Gly) c.25301C>G (p.Ala8434Gly) c.23741C>G (p.Ala7914Gly) c.23234C>G (p.Ala7745Gly) c.18701C>G (p.Ala6234Gly) c.1967C>G (p.Ala656Gly) c.25439C>G (p.Ala8480Gly) c.25388C>G (p.Ala8463Gly) c.25241C>G (p.Ala8414Gly) | |
| 6 | g.152140047G>T | CA366080321 | SYNE1 | c.1895C>A (p.Ala632Asp) c.25361C>A (p.Ala8454Asp) c.25217C>A (p.Ala8406Asp) c.763C>A c.1096C>A c.1005C>A c.1133C>A (p.Ala378Asp) c.24146C>A (p.Ala8049Asp) n.2109C>A c.4196C>A (p.Ala1399Asp) n.9053C>A c.3299C>A (p.Ala1100Asp) n.8945C>A n.1975C>A n.4383C>A n.2198C>A c.1826C>A (p.Ala609Asp) c.25466C>A (p.Ala8489Asp) c.25454C>A (p.Ala8485Asp) c.25445C>A (p.Ala8482Asp) c.25415C>A (p.Ala8472Asp) c.25451C>A (p.Ala8484Asp) c.25397C>A (p.Ala8466Asp) c.25394C>A (p.Ala8465Asp) c.25382C>A (p.Ala8461Asp) c.25325C>A (p.Ala8442Asp) c.25313C>A (p.Ala8438Asp) c.25310C>A (p.Ala8437Asp) c.25307C>A (p.Ala8436Asp) c.25463C>A (p.Ala8488Asp) c.25301C>A (p.Ala8434Asp) c.23741C>A (p.Ala7914Asp) c.23234C>A (p.Ala7745Asp) c.18701C>A (p.Ala6234Asp) c.1967C>A (p.Ala656Asp) c.25439C>A (p.Ala8480Asp) c.25388C>A (p.Ala8463Asp) c.25241C>A (p.Ala8414Asp) | |
| 6 | g.152140048C>A | CA366080322 | SYNE1 | c.1894G>T (p.Ala632Ser) c.25360G>T (p.Ala8454Ser) c.25216G>T (p.Ala8406Ser) c.762G>T c.1095G>T c.1004G>T c.1132G>T (p.Ala378Ser) c.24145G>T (p.Ala8049Ser) n.2108G>T c.4195G>T (p.Ala1399Ser) n.9052G>T c.3298G>T (p.Ala1100Ser) n.8944G>T n.1974G>T n.4382G>T n.2197G>T c.1825G>T (p.Ala609Ser) c.25465G>T (p.Ala8489Ser) c.25453G>T (p.Ala8485Ser) c.25444G>T (p.Ala8482Ser) c.25414G>T (p.Ala8472Ser) c.25450G>T (p.Ala8484Ser) c.25396G>T (p.Ala8466Ser) c.25393G>T (p.Ala8465Ser) c.25381G>T (p.Ala8461Ser) c.25324G>T (p.Ala8442Ser) c.25312G>T (p.Ala8438Ser) c.25309G>T (p.Ala8437Ser) c.25306G>T (p.Ala8436Ser) c.25462G>T (p.Ala8488Ser) c.25300G>T (p.Ala8434Ser) c.23740G>T (p.Ala7914Ser) c.23233G>T (p.Ala7745Ser) c.18700G>T (p.Ala6234Ser) c.1966G>T (p.Ala656Ser) c.25438G>T (p.Ala8480Ser) c.25387G>T (p.Ala8463Ser) c.25240G>T (p.Ala8414Ser) | |
| 6 | g.152140048C= | CA1673206295 | SYNE1 | c.1894G= (p.Ala632=) c.25360G= (p.Ala8454=) c.25216G= (p.Ala8406=) c.762G= c.1095G= c.1004G= c.1132G= (p.Ala378=) c.24145G= (p.Ala8049=) n.2108G= c.4195G= (p.Ala1399=) n.9052G= c.3298G= (p.Ala1100=) n.8944G= n.1974G= n.4382G= n.2197G= c.1825G= (p.Ala609=) c.25465G= (p.Ala8489=) c.25453G= (p.Ala8485=) c.25444G= (p.Ala8482=) c.25414G= (p.Ala8472=) c.25450G= (p.Ala8484=) c.25396G= (p.Ala8466=) c.25393G= (p.Ala8465=) c.25381G= (p.Ala8461=) c.25324G= (p.Ala8442=) c.25312G= (p.Ala8438=) c.25309G= (p.Ala8437=) c.25306G= (p.Ala8436=) c.25462G= (p.Ala8488=) c.25300G= (p.Ala8434=) c.23740G= (p.Ala7914=) c.23233G= (p.Ala7745=) c.18700G= (p.Ala6234=) c.1966G= (p.Ala656=) c.25438G= (p.Ala8480=) c.25387G= (p.Ala8463=) c.25240G= (p.Ala8414=) | |
| 6 | g.152140048C>G | CA366080324 | SYNE1 | c.1894G>C (p.Ala632Pro) c.25360G>C (p.Ala8454Pro) c.25216G>C (p.Ala8406Pro) c.762G>C c.1095G>C c.1004G>C c.1132G>C (p.Ala378Pro) c.24145G>C (p.Ala8049Pro) n.2108G>C c.4195G>C (p.Ala1399Pro) n.9052G>C c.3298G>C (p.Ala1100Pro) n.8944G>C n.1974G>C n.4382G>C n.2197G>C c.1825G>C (p.Ala609Pro) c.25465G>C (p.Ala8489Pro) c.25453G>C (p.Ala8485Pro) c.25444G>C (p.Ala8482Pro) c.25414G>C (p.Ala8472Pro) c.25450G>C (p.Ala8484Pro) c.25396G>C (p.Ala8466Pro) c.25393G>C (p.Ala8465Pro) c.25381G>C (p.Ala8461Pro) c.25324G>C (p.Ala8442Pro) c.25312G>C (p.Ala8438Pro) c.25309G>C (p.Ala8437Pro) c.25306G>C (p.Ala8436Pro) c.25462G>C (p.Ala8488Pro) c.25300G>C (p.Ala8434Pro) c.23740G>C (p.Ala7914Pro) c.23233G>C (p.Ala7745Pro) c.18700G>C (p.Ala6234Pro) c.1966G>C (p.Ala656Pro) c.25438G>C (p.Ala8480Pro) c.25387G>C (p.Ala8463Pro) c.25240G>C (p.Ala8414Pro) | |
| 6 | g.152140048C>T | CA366080327 | SYNE1 | c.1894G>A (p.Ala632Thr) c.25360G>A (p.Ala8454Thr) c.25216G>A (p.Ala8406Thr) c.762G>A c.1095G>A c.1004G>A c.1132G>A (p.Ala378Thr) c.24145G>A (p.Ala8049Thr) n.2108G>A c.4195G>A (p.Ala1399Thr) n.9052G>A c.3298G>A (p.Ala1100Thr) n.8944G>A n.1974G>A n.4382G>A n.2197G>A c.1825G>A (p.Ala609Thr) c.25465G>A (p.Ala8489Thr) c.25453G>A (p.Ala8485Thr) c.25444G>A (p.Ala8482Thr) c.25414G>A (p.Ala8472Thr) c.25450G>A (p.Ala8484Thr) c.25396G>A (p.Ala8466Thr) c.25393G>A (p.Ala8465Thr) c.25381G>A (p.Ala8461Thr) c.25324G>A (p.Ala8442Thr) c.25312G>A (p.Ala8438Thr) c.25309G>A (p.Ala8437Thr) c.25306G>A (p.Ala8436Thr) c.25462G>A (p.Ala8488Thr) c.25300G>A (p.Ala8434Thr) c.23740G>A (p.Ala7914Thr) c.23233G>A (p.Ala7745Thr) c.18700G>A (p.Ala6234Thr) c.1966G>A (p.Ala656Thr) c.25438G>A (p.Ala8480Thr) c.25387G>A (p.Ala8463Thr) c.25240G>A (p.Ala8414Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152140049C>A | CA366080333 | SYNE1 | c.1893G>T (p.Trp631Cys) c.25359G>T (p.Trp8453Cys) c.25215G>T (p.Trp8405Cys) c.761G>T c.1094G>T c.1003G>T c.1131G>T (p.Trp377Cys) c.24144G>T (p.Trp8048Cys) n.2107G>T c.4194G>T (p.Trp1398Cys) n.9051G>T c.3297G>T (p.Trp1099Cys) n.8943G>T n.1973G>T n.4381G>T n.2196G>T c.1824G>T (p.Trp608Cys) c.25464G>T (p.Trp8488Cys) c.25452G>T (p.Trp8484Cys) c.25443G>T (p.Trp8481Cys) c.25413G>T (p.Trp8471Cys) c.25449G>T (p.Trp8483Cys) c.25395G>T (p.Trp8465Cys) c.25392G>T (p.Trp8464Cys) c.25380G>T (p.Trp8460Cys) c.25323G>T (p.Trp8441Cys) c.25311G>T (p.Trp8437Cys) c.25308G>T (p.Trp8436Cys) c.25305G>T (p.Trp8435Cys) c.25461G>T (p.Trp8487Cys) c.25299G>T (p.Trp8433Cys) c.23739G>T (p.Trp7913Cys) c.23232G>T (p.Trp7744Cys) c.18699G>T (p.Trp6233Cys) c.1965G>T (p.Trp655Cys) c.25437G>T (p.Trp8479Cys) c.25386G>T (p.Trp8462Cys) c.25239G>T (p.Trp8413Cys) | |
| 6 | g.152140049C= | CA1673206299 | SYNE1 | c.1893G= (p.Trp631=) c.25359G= (p.Trp8453=) c.25215G= (p.Trp8405=) c.761G= c.1094G= c.1003G= c.1131G= (p.Trp377=) c.24144G= (p.Trp8048=) n.2107G= c.4194G= (p.Trp1398=) n.9051G= c.3297G= (p.Trp1099=) n.8943G= n.1973G= n.4381G= n.2196G= c.1824G= (p.Trp608=) c.25464G= (p.Trp8488=) c.25452G= (p.Trp8484=) c.25443G= (p.Trp8481=) c.25413G= (p.Trp8471=) c.25449G= (p.Trp8483=) c.25395G= (p.Trp8465=) c.25392G= (p.Trp8464=) c.25380G= (p.Trp8460=) c.25323G= (p.Trp8441=) c.25311G= (p.Trp8437=) c.25308G= (p.Trp8436=) c.25305G= (p.Trp8435=) c.25461G= (p.Trp8487=) c.25299G= (p.Trp8433=) c.23739G= (p.Trp7913=) c.23232G= (p.Trp7744=) c.18699G= (p.Trp6233=) c.1965G= (p.Trp655=) c.25437G= (p.Trp8479=) c.25386G= (p.Trp8462=) c.25239G= (p.Trp8413=) | |
| 6 | g.152140049C>G | CA366080329 | SYNE1 | c.1893G>C (p.Trp631Cys) c.25359G>C (p.Trp8453Cys) c.25215G>C (p.Trp8405Cys) c.761G>C c.1094G>C c.1003G>C c.1131G>C (p.Trp377Cys) c.24144G>C (p.Trp8048Cys) n.2107G>C c.4194G>C (p.Trp1398Cys) n.9051G>C c.3297G>C (p.Trp1099Cys) n.8943G>C n.1973G>C n.4381G>C n.2196G>C c.1824G>C (p.Trp608Cys) c.25464G>C (p.Trp8488Cys) c.25452G>C (p.Trp8484Cys) c.25443G>C (p.Trp8481Cys) c.25413G>C (p.Trp8471Cys) c.25449G>C (p.Trp8483Cys) c.25395G>C (p.Trp8465Cys) c.25392G>C (p.Trp8464Cys) c.25380G>C (p.Trp8460Cys) c.25323G>C (p.Trp8441Cys) c.25311G>C (p.Trp8437Cys) c.25308G>C (p.Trp8436Cys) c.25305G>C (p.Trp8435Cys) c.25461G>C (p.Trp8487Cys) c.25299G>C (p.Trp8433Cys) c.23739G>C (p.Trp7913Cys) c.23232G>C (p.Trp7744Cys) c.18699G>C (p.Trp6233Cys) c.1965G>C (p.Trp655Cys) c.25437G>C (p.Trp8479Cys) c.25386G>C (p.Trp8462Cys) c.25239G>C (p.Trp8413Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152140049C>T | CA366080331 | SYNE1 | c.1893G>A (p.Trp631Ter) c.25359G>A (p.Trp8453Ter) c.25215G>A (p.Trp8405Ter) c.761G>A c.1094G>A c.1003G>A c.1131G>A (p.Trp377Ter) c.24144G>A (p.Trp8048Ter) n.2107G>A c.4194G>A (p.Trp1398Ter) n.9051G>A c.3297G>A (p.Trp1099Ter) n.8943G>A n.1973G>A n.4381G>A n.2196G>A c.1824G>A (p.Trp608Ter) c.25464G>A (p.Trp8488Ter) c.25452G>A (p.Trp8484Ter) c.25443G>A (p.Trp8481Ter) c.25413G>A (p.Trp8471Ter) c.25449G>A (p.Trp8483Ter) c.25395G>A (p.Trp8465Ter) c.25392G>A (p.Trp8464Ter) c.25380G>A (p.Trp8460Ter) c.25323G>A (p.Trp8441Ter) c.25311G>A (p.Trp8437Ter) c.25308G>A (p.Trp8436Ter) c.25305G>A (p.Trp8435Ter) c.25461G>A (p.Trp8487Ter) c.25299G>A (p.Trp8433Ter) c.23739G>A (p.Trp7913Ter) c.23232G>A (p.Trp7744Ter) c.18699G>A (p.Trp6233Ter) c.1965G>A (p.Trp655Ter) c.25437G>A (p.Trp8479Ter) c.25386G>A (p.Trp8462Ter) c.25239G>A (p.Trp8413Ter) | ClinVar |
| 6 | g.152140050C>A | CA366080338 | SYNE1 | c.1892G>T (p.Trp631Leu) c.25358G>T (p.Trp8453Leu) c.25214G>T (p.Trp8405Leu) c.760G>T c.1093G>T c.1002G>T c.1130G>T (p.Trp377Leu) c.24143G>T (p.Trp8048Leu) n.2106G>T c.4193G>T (p.Trp1398Leu) n.9050G>T c.3296G>T (p.Trp1099Leu) n.8942G>T n.1972G>T n.4380G>T n.2195G>T c.1823G>T (p.Trp608Leu) c.25463G>T (p.Trp8488Leu) c.25451G>T (p.Trp8484Leu) c.25442G>T (p.Trp8481Leu) c.25412G>T (p.Trp8471Leu) c.25448G>T (p.Trp8483Leu) c.25394G>T (p.Trp8465Leu) c.25391G>T (p.Trp8464Leu) c.25379G>T (p.Trp8460Leu) c.25322G>T (p.Trp8441Leu) c.25310G>T (p.Trp8437Leu) c.25307G>T (p.Trp8436Leu) c.25304G>T (p.Trp8435Leu) c.25460G>T (p.Trp8487Leu) c.25298G>T (p.Trp8433Leu) c.23738G>T (p.Trp7913Leu) c.23231G>T (p.Trp7744Leu) c.18698G>T (p.Trp6233Leu) c.1964G>T (p.Trp655Leu) c.25436G>T (p.Trp8479Leu) c.25385G>T (p.Trp8462Leu) c.25238G>T (p.Trp8413Leu) |