Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152368970A= | CA1673300190 | SYNE1 | c.1158+2T= (n.1158+2T=) c.9807+2T= (n.9807+2T=) c.9828+2T= (n.9828+2T=) c.9873+2T= (n.9873+2T=) c.1155+2T= (n.1155+2T=) c.244+501T= n.1358T= c.9777+2T= (n.9777+2T=) c.9756+2T= (n.9756+2T=) c.9672+501T= (n.9672+501T=) c.9669+2T= (n.9669+2T=) c.9663+2T= (n.9663+2T=) c.8103+2T= (n.8103+2T=) c.7596+2T= (n.7596+2T=) c.3063+2T= (n.3063+2T=) c.9801+2T= (n.9801+2T=) c.9750+2T= (n.9750+2T=) n.10311+2T= | |
6 | g.152368970A>C | CA366136948 | SYNE1 | c.1158+2T>G (n.1158+2T>G) c.9807+2T>G (n.9807+2T>G) c.9828+2T>G (n.9828+2T>G) c.9873+2T>G (n.9873+2T>G) c.1155+2T>G (n.1155+2T>G) c.244+501T>G n.1358T>G c.9777+2T>G (n.9777+2T>G) c.9756+2T>G (n.9756+2T>G) c.9672+501T>G (n.9672+501T>G) c.9669+2T>G (n.9669+2T>G) c.9663+2T>G (n.9663+2T>G) c.8103+2T>G (n.8103+2T>G) c.7596+2T>G (n.7596+2T>G) c.3063+2T>G (n.3063+2T>G) c.9801+2T>G (n.9801+2T>G) c.9750+2T>G (n.9750+2T>G) n.10311+2T>G | |
6 | g.152368970A>G | CA366136953 | SYNE1 | c.1158+2T>C (n.1158+2T>C) c.9807+2T>C (n.9807+2T>C) c.9828+2T>C (n.9828+2T>C) c.9873+2T>C (n.9873+2T>C) c.1155+2T>C (n.1155+2T>C) c.244+501T>C n.1358T>C c.9777+2T>C (n.9777+2T>C) c.9756+2T>C (n.9756+2T>C) c.9672+501T>C (n.9672+501T>C) c.9669+2T>C (n.9669+2T>C) c.9663+2T>C (n.9663+2T>C) c.8103+2T>C (n.8103+2T>C) c.7596+2T>C (n.7596+2T>C) c.3063+2T>C (n.3063+2T>C) c.9801+2T>C (n.9801+2T>C) c.9750+2T>C (n.9750+2T>C) n.10311+2T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152368970A>T | CA366136955 | SYNE1 | c.1158+2T>A (n.1158+2T>A) c.9807+2T>A (n.9807+2T>A) c.9828+2T>A (n.9828+2T>A) c.9873+2T>A (n.9873+2T>A) c.1155+2T>A (n.1155+2T>A) c.244+501T>A n.1358T>A c.9777+2T>A (n.9777+2T>A) c.9756+2T>A (n.9756+2T>A) c.9672+501T>A (n.9672+501T>A) c.9669+2T>A (n.9669+2T>A) c.9663+2T>A (n.9663+2T>A) c.8103+2T>A (n.8103+2T>A) c.7596+2T>A (n.7596+2T>A) c.3063+2T>A (n.3063+2T>A) c.9801+2T>A (n.9801+2T>A) c.9750+2T>A (n.9750+2T>A) n.10311+2T>A | |
6 | g.152368971C>A | CA366136956 | SYNE1 | c.1158+1G>T (n.1158+1G>T) c.9807+1G>T (n.9807+1G>T) c.9828+1G>T (n.9828+1G>T) c.9873+1G>T (n.9873+1G>T) c.1155+1G>T (n.1155+1G>T) c.244+500G>T n.1357G>T c.9777+1G>T (n.9777+1G>T) c.9756+1G>T (n.9756+1G>T) c.9672+500G>T (n.9672+500G>T) c.9669+1G>T (n.9669+1G>T) c.9663+1G>T (n.9663+1G>T) c.8103+1G>T (n.8103+1G>T) c.7596+1G>T (n.7596+1G>T) c.3063+1G>T (n.3063+1G>T) c.9801+1G>T (n.9801+1G>T) c.9750+1G>T (n.9750+1G>T) n.10311+1G>T | gnomAD v4 |
6 | g.152368971C>G | CA366136958 | SYNE1 | c.1158+1G>C (n.1158+1G>C) c.9807+1G>C (n.9807+1G>C) c.9828+1G>C (n.9828+1G>C) c.9873+1G>C (n.9873+1G>C) c.1155+1G>C (n.1155+1G>C) c.244+500G>C n.1357G>C c.9777+1G>C (n.9777+1G>C) c.9756+1G>C (n.9756+1G>C) c.9672+500G>C (n.9672+500G>C) c.9669+1G>C (n.9669+1G>C) c.9663+1G>C (n.9663+1G>C) c.8103+1G>C (n.8103+1G>C) c.7596+1G>C (n.7596+1G>C) c.3063+1G>C (n.3063+1G>C) c.9801+1G>C (n.9801+1G>C) c.9750+1G>C (n.9750+1G>C) n.10311+1G>C | |
6 | g.152368971C>T | CA366136962 | SYNE1 | c.1158+1G>A (n.1158+1G>A) c.9807+1G>A (n.9807+1G>A) c.9828+1G>A (n.9828+1G>A) c.9873+1G>A (n.9873+1G>A) c.1155+1G>A (n.1155+1G>A) c.244+500G>A n.1357G>A c.9777+1G>A (n.9777+1G>A) c.9756+1G>A (n.9756+1G>A) c.9672+500G>A (n.9672+500G>A) c.9669+1G>A (n.9669+1G>A) c.9663+1G>A (n.9663+1G>A) c.8103+1G>A (n.8103+1G>A) c.7596+1G>A (n.7596+1G>A) c.3063+1G>A (n.3063+1G>A) c.9801+1G>A (n.9801+1G>A) c.9750+1G>A (n.9750+1G>A) n.10311+1G>A | gnomAD v4 |
6 | g.152368972C>A | CA366136964 | SYNE1 | c.1158G>T (p.Lys386Asn) c.9807G>T (p.Lys3269Asn) c.9828G>T (p.Lys3276Asn) c.9873G>T (p.Lys3291Asn) c.1155G>T (p.Lys385Asn) c.244+499G>T n.1356G>T c.9777G>T (p.Lys3259Asn) c.9756G>T (p.Lys3252Asn) c.9672+499G>T (n.9672+499G>T) c.9669G>T (p.Lys3223Asn) c.9663G>T (p.Lys3221Asn) c.8103G>T (p.Lys2701Asn) c.7596G>T (p.Lys2532Asn) c.3063G>T (p.Lys1021Asn) c.9801G>T (p.Lys3267Asn) c.9750G>T (p.Lys3250Asn) n.10311G>T | |
6 | g.152368972C>G | CA366136966 | SYNE1 | c.1158G>C (p.Lys386Asn) c.9807G>C (p.Lys3269Asn) c.9828G>C (p.Lys3276Asn) c.9873G>C (p.Lys3291Asn) c.1155G>C (p.Lys385Asn) c.244+499G>C n.1356G>C c.9777G>C (p.Lys3259Asn) c.9756G>C (p.Lys3252Asn) c.9672+499G>C (n.9672+499G>C) c.9669G>C (p.Lys3223Asn) c.9663G>C (p.Lys3221Asn) c.8103G>C (p.Lys2701Asn) c.7596G>C (p.Lys2532Asn) c.3063G>C (p.Lys1021Asn) c.9801G>C (p.Lys3267Asn) c.9750G>C (p.Lys3250Asn) n.10311G>C | |
6 | g.152368972C>T | CA452760803 | SYNE1 | c.1158G>A (p.Lys386=) c.9807G>A (p.Lys3269=) c.9828G>A (p.Lys3276=) c.9873G>A (p.Lys3291=) c.1155G>A (p.Lys385=) c.244+499G>A n.1356G>A c.9777G>A (p.Lys3259=) c.9756G>A (p.Lys3252=) c.9672+499G>A (n.9672+499G>A) c.9669G>A (p.Lys3223=) c.9663G>A (p.Lys3221=) c.8103G>A (p.Lys2701=) c.7596G>A (p.Lys2532=) c.3063G>A (p.Lys1021=) c.9801G>A (p.Lys3267=) c.9750G>A (p.Lys3250=) n.10311G>A | |
6 | g.152368973T>A | CA366136968 | SYNE1 | c.1157A>T (p.Lys386Met) c.9806A>T (p.Lys3269Met) c.9827A>T (p.Lys3276Met) c.9872A>T (p.Lys3291Met) c.1154A>T (p.Lys385Met) c.244+498A>T n.1355A>T c.9776A>T (p.Lys3259Met) c.9755A>T (p.Lys3252Met) c.9672+498A>T (n.9672+498A>T) c.9668A>T (p.Lys3223Met) c.9662A>T (p.Lys3221Met) c.8102A>T (p.Lys2701Met) c.7595A>T (p.Lys2532Met) c.3062A>T (p.Lys1021Met) c.9800A>T (p.Lys3267Met) c.9749A>T (p.Lys3250Met) n.10310A>T | |
6 | g.152368973T>C | CA366136971 | SYNE1 | c.1157A>G (p.Lys386Arg) c.9806A>G (p.Lys3269Arg) c.9827A>G (p.Lys3276Arg) c.9872A>G (p.Lys3291Arg) c.1154A>G (p.Lys385Arg) c.244+498A>G n.1355A>G c.9776A>G (p.Lys3259Arg) c.9755A>G (p.Lys3252Arg) c.9672+498A>G (n.9672+498A>G) c.9668A>G (p.Lys3223Arg) c.9662A>G (p.Lys3221Arg) c.8102A>G (p.Lys2701Arg) c.7595A>G (p.Lys2532Arg) c.3062A>G (p.Lys1021Arg) c.9800A>G (p.Lys3267Arg) c.9749A>G (p.Lys3250Arg) n.10310A>G | |
6 | g.152368973T>G | CA366136969 | SYNE1 | c.1157A>C (p.Lys386Thr) c.9806A>C (p.Lys3269Thr) c.9827A>C (p.Lys3276Thr) c.9872A>C (p.Lys3291Thr) c.1154A>C (p.Lys385Thr) c.244+498A>C n.1355A>C c.9776A>C (p.Lys3259Thr) c.9755A>C (p.Lys3252Thr) c.9672+498A>C (n.9672+498A>C) c.9668A>C (p.Lys3223Thr) c.9662A>C (p.Lys3221Thr) c.8102A>C (p.Lys2701Thr) c.7595A>C (p.Lys2532Thr) c.3062A>C (p.Lys1021Thr) c.9800A>C (p.Lys3267Thr) c.9749A>C (p.Lys3250Thr) n.10310A>C | |
6 | g.152368974T>A | CA366136986 | SYNE1 | c.1156A>T (p.Lys386Ter) c.9805A>T (p.Lys3269Ter) c.9826A>T (p.Lys3276Ter) c.9871A>T (p.Lys3291Ter) c.1153A>T (p.Lys385Ter) c.244+497A>T n.1354A>T c.9775A>T (p.Lys3259Ter) c.9754A>T (p.Lys3252Ter) c.9672+497A>T (n.9672+497A>T) c.9667A>T (p.Lys3223Ter) c.9661A>T (p.Lys3221Ter) c.8101A>T (p.Lys2701Ter) c.7594A>T (p.Lys2532Ter) c.3061A>T (p.Lys1021Ter) c.9799A>T (p.Lys3267Ter) c.9748A>T (p.Lys3250Ter) n.10309A>T | |
6 | g.152368974T>C | CA366136989 | SYNE1 | c.1156A>G (p.Lys386Glu) c.9805A>G (p.Lys3269Glu) c.9826A>G (p.Lys3276Glu) c.9871A>G (p.Lys3291Glu) c.1153A>G (p.Lys385Glu) c.244+497A>G n.1354A>G c.9775A>G (p.Lys3259Glu) c.9754A>G (p.Lys3252Glu) c.9672+497A>G (n.9672+497A>G) c.9667A>G (p.Lys3223Glu) c.9661A>G (p.Lys3221Glu) c.8101A>G (p.Lys2701Glu) c.7594A>G (p.Lys2532Glu) c.3061A>G (p.Lys1021Glu) c.9799A>G (p.Lys3267Glu) c.9748A>G (p.Lys3250Glu) n.10309A>G | |
6 | g.152368974T>G | CA366136991 | SYNE1 | c.1156A>C (p.Lys386Gln) c.9805A>C (p.Lys3269Gln) c.9826A>C (p.Lys3276Gln) c.9871A>C (p.Lys3291Gln) c.1153A>C (p.Lys385Gln) c.244+497A>C n.1354A>C c.9775A>C (p.Lys3259Gln) c.9754A>C (p.Lys3252Gln) c.9672+497A>C (n.9672+497A>C) c.9667A>C (p.Lys3223Gln) c.9661A>C (p.Lys3221Gln) c.8101A>C (p.Lys2701Gln) c.7594A>C (p.Lys2532Gln) c.3061A>C (p.Lys1021Gln) c.9799A>C (p.Lys3267Gln) c.9748A>C (p.Lys3250Gln) n.10309A>C | |
6 | g.152368975T>A | CA452760815 | SYNE1 | c.1155A>T (p.Thr385=) c.9804A>T (p.Thr3268=) c.9825A>T (p.Thr3275=) c.9870A>T (p.Thr3290=) c.1152A>T (p.Thr384=) c.244+496A>T n.1353A>T c.9774A>T (p.Thr3258=) c.9753A>T (p.Thr3251=) c.9672+496A>T (n.9672+496A>T) c.9666A>T (p.Thr3222=) c.9660A>T (p.Thr3220=) c.8100A>T (p.Thr2700=) c.7593A>T (p.Thr2531=) c.3060A>T (p.Thr1020=) c.9798A>T (p.Thr3266=) c.9747A>T (p.Thr3249=) n.10308A>T | |
6 | g.152368975T>C | CA452760818 | SYNE1 | c.1155A>G (p.Thr385=) c.9804A>G (p.Thr3268=) c.9825A>G (p.Thr3275=) c.9870A>G (p.Thr3290=) c.1152A>G (p.Thr384=) c.244+496A>G n.1353A>G c.9774A>G (p.Thr3258=) c.9753A>G (p.Thr3251=) c.9672+496A>G (n.9672+496A>G) c.9666A>G (p.Thr3222=) c.9660A>G (p.Thr3220=) c.8100A>G (p.Thr2700=) c.7593A>G (p.Thr2531=) c.3060A>G (p.Thr1020=) c.9798A>G (p.Thr3266=) c.9747A>G (p.Thr3249=) n.10308A>G | dbSNP |
6 | g.152368975T>G | CA452760816 | SYNE1 | c.1155A>C (p.Thr385=) c.9804A>C (p.Thr3268=) c.9825A>C (p.Thr3275=) c.9870A>C (p.Thr3290=) c.1152A>C (p.Thr384=) c.244+496A>C n.1353A>C c.9774A>C (p.Thr3258=) c.9753A>C (p.Thr3251=) c.9672+496A>C (n.9672+496A>C) c.9666A>C (p.Thr3222=) c.9660A>C (p.Thr3220=) c.8100A>C (p.Thr2700=) c.7593A>C (p.Thr2531=) c.3060A>C (p.Thr1020=) c.9798A>C (p.Thr3266=) c.9747A>C (p.Thr3249=) n.10308A>C | |
6 | g.152368975T= | CA1673300191 | SYNE1 | c.1155A= (p.Thr385=) c.9804A= (p.Thr3268=) c.9825A= (p.Thr3275=) c.9870A= (p.Thr3290=) c.1152A= (p.Thr384=) c.244+496A= n.1353A= c.9774A= (p.Thr3258=) c.9753A= (p.Thr3251=) c.9672+496A= (n.9672+496A=) c.9666A= (p.Thr3222=) c.9660A= (p.Thr3220=) c.8100A= (p.Thr2700=) c.7593A= (p.Thr2531=) c.3060A= (p.Thr1020=) c.9798A= (p.Thr3266=) c.9747A= (p.Thr3249=) n.10308A= | |
6 | g.152368976G>A | CA366136992 | SYNE1 | c.1154C>T (p.Thr385Ile) c.9803C>T (p.Thr3268Ile) c.9824C>T (p.Thr3275Ile) c.9869C>T (p.Thr3290Ile) c.1151C>T (p.Thr384Ile) c.244+495C>T n.1352C>T c.9773C>T (p.Thr3258Ile) c.9752C>T (p.Thr3251Ile) c.9672+495C>T (n.9672+495C>T) c.9665C>T (p.Thr3222Ile) c.9659C>T (p.Thr3220Ile) c.8099C>T (p.Thr2700Ile) c.7592C>T (p.Thr2531Ile) c.3059C>T (p.Thr1020Ile) c.9797C>T (p.Thr3266Ile) c.9746C>T (p.Thr3249Ile) n.10307C>T | |
6 | g.152368976G>C | CA366136994 | SYNE1 | c.1154C>G (p.Thr385Arg) c.9803C>G (p.Thr3268Arg) c.9824C>G (p.Thr3275Arg) c.9869C>G (p.Thr3290Arg) c.1151C>G (p.Thr384Arg) c.244+495C>G n.1352C>G c.9773C>G (p.Thr3258Arg) c.9752C>G (p.Thr3251Arg) c.9672+495C>G (n.9672+495C>G) c.9665C>G (p.Thr3222Arg) c.9659C>G (p.Thr3220Arg) c.8099C>G (p.Thr2700Arg) c.7592C>G (p.Thr2531Arg) c.3059C>G (p.Thr1020Arg) c.9797C>G (p.Thr3266Arg) c.9746C>G (p.Thr3249Arg) n.10307C>G | |
6 | g.152368976G>T | CA366136999 | SYNE1 | c.1154C>A (p.Thr385Lys) c.9803C>A (p.Thr3268Lys) c.9824C>A (p.Thr3275Lys) c.9869C>A (p.Thr3290Lys) c.1151C>A (p.Thr384Lys) c.244+495C>A n.1352C>A c.9773C>A (p.Thr3258Lys) c.9752C>A (p.Thr3251Lys) c.9672+495C>A (n.9672+495C>A) c.9665C>A (p.Thr3222Lys) c.9659C>A (p.Thr3220Lys) c.8099C>A (p.Thr2700Lys) c.7592C>A (p.Thr2531Lys) c.3059C>A (p.Thr1020Lys) c.9797C>A (p.Thr3266Lys) c.9746C>A (p.Thr3249Lys) n.10307C>A | |
6 | g.152368977T>A | CA366137001 | SYNE1 | c.1153A>T (p.Thr385Ser) c.9802A>T (p.Thr3268Ser) c.9823A>T (p.Thr3275Ser) c.9868A>T (p.Thr3290Ser) c.1150A>T (p.Thr384Ser) c.244+494A>T n.1351A>T c.9772A>T (p.Thr3258Ser) c.9751A>T (p.Thr3251Ser) c.9672+494A>T (n.9672+494A>T) c.9664A>T (p.Thr3222Ser) c.9658A>T (p.Thr3220Ser) c.8098A>T (p.Thr2700Ser) c.7591A>T (p.Thr2531Ser) c.3058A>T (p.Thr1020Ser) c.9796A>T (p.Thr3266Ser) c.9745A>T (p.Thr3249Ser) n.10306A>T | |
6 | g.152368977T>C | CA366137002 | SYNE1 | c.1153A>G (p.Thr385Ala) c.9802A>G (p.Thr3268Ala) c.9823A>G (p.Thr3275Ala) c.9868A>G (p.Thr3290Ala) c.1150A>G (p.Thr384Ala) c.244+494A>G n.1351A>G c.9772A>G (p.Thr3258Ala) c.9751A>G (p.Thr3251Ala) c.9672+494A>G (n.9672+494A>G) c.9664A>G (p.Thr3222Ala) c.9658A>G (p.Thr3220Ala) c.8098A>G (p.Thr2700Ala) c.7591A>G (p.Thr2531Ala) c.3058A>G (p.Thr1020Ala) c.9796A>G (p.Thr3266Ala) c.9745A>G (p.Thr3249Ala) n.10306A>G | dbSNP |
6 | g.152368977T>G | CA366137003 | SYNE1 | c.1153A>C (p.Thr385Pro) c.9802A>C (p.Thr3268Pro) c.9823A>C (p.Thr3275Pro) c.9868A>C (p.Thr3290Pro) c.1150A>C (p.Thr384Pro) c.244+494A>C n.1351A>C c.9772A>C (p.Thr3258Pro) c.9751A>C (p.Thr3251Pro) c.9672+494A>C (n.9672+494A>C) c.9664A>C (p.Thr3222Pro) c.9658A>C (p.Thr3220Pro) c.8098A>C (p.Thr2700Pro) c.7591A>C (p.Thr2531Pro) c.3058A>C (p.Thr1020Pro) c.9796A>C (p.Thr3266Pro) c.9745A>C (p.Thr3249Pro) n.10306A>C | |
6 | g.152368977T= | CA1673300194 | SYNE1 | c.1153A= (p.Thr385=) c.9802A= (p.Thr3268=) c.9823A= (p.Thr3275=) c.9868A= (p.Thr3290=) c.1150A= (p.Thr384=) c.244+494A= n.1351A= c.9772A= (p.Thr3258=) c.9751A= (p.Thr3251=) c.9672+494A= (n.9672+494A=) c.9664A= (p.Thr3222=) c.9658A= (p.Thr3220=) c.8098A= (p.Thr2700=) c.7591A= (p.Thr2531=) c.3058A= (p.Thr1020=) c.9796A= (p.Thr3266=) c.9745A= (p.Thr3249=) n.10306A= | |
6 | g.152368978T>A | CA366137005 | SYNE1 | c.1152A>T (p.Leu384Phe) c.9801A>T (p.Leu3267Phe) c.9822A>T (p.Leu3274Phe) c.9867A>T (p.Leu3289Phe) c.1149A>T (p.Leu383Phe) c.244+493A>T n.1350A>T c.9771A>T (p.Leu3257Phe) c.9750A>T (p.Leu3250Phe) c.9672+493A>T (n.9672+493A>T) c.9663A>T (p.Leu3221Phe) c.9657A>T (p.Leu3219Phe) c.8097A>T (p.Leu2699Phe) c.7590A>T (p.Leu2530Phe) c.3057A>T (p.Leu1019Phe) c.9795A>T (p.Leu3265Phe) c.9744A>T (p.Leu3248Phe) n.10305A>T | |
6 | g.152368978T>C | CA452760826 | SYNE1 | c.1152A>G (p.Leu384=) c.9801A>G (p.Leu3267=) c.9822A>G (p.Leu3274=) c.9867A>G (p.Leu3289=) c.1149A>G (p.Leu383=) c.244+493A>G n.1350A>G c.9771A>G (p.Leu3257=) c.9750A>G (p.Leu3250=) c.9672+493A>G (n.9672+493A>G) c.9663A>G (p.Leu3221=) c.9657A>G (p.Leu3219=) c.8097A>G (p.Leu2699=) c.7590A>G (p.Leu2530=) c.3057A>G (p.Leu1019=) c.9795A>G (p.Leu3265=) c.9744A>G (p.Leu3248=) n.10305A>G | |
6 | g.152368978T>G | CA366137007 | SYNE1 | c.1152A>C (p.Leu384Phe) c.9801A>C (p.Leu3267Phe) c.9822A>C (p.Leu3274Phe) c.9867A>C (p.Leu3289Phe) c.1149A>C (p.Leu383Phe) c.244+493A>C n.1350A>C c.9771A>C (p.Leu3257Phe) c.9750A>C (p.Leu3250Phe) c.9672+493A>C (n.9672+493A>C) c.9663A>C (p.Leu3221Phe) c.9657A>C (p.Leu3219Phe) c.8097A>C (p.Leu2699Phe) c.7590A>C (p.Leu2530Phe) c.3057A>C (p.Leu1019Phe) c.9795A>C (p.Leu3265Phe) c.9744A>C (p.Leu3248Phe) n.10305A>C | |
6 | g.152368979A>C | CA366137015 | SYNE1 | c.1151T>G (p.Leu384Ter) c.9800T>G (p.Leu3267Ter) c.9821T>G (p.Leu3274Ter) c.9866T>G (p.Leu3289Ter) c.1148T>G (p.Leu383Ter) c.244+492T>G n.1349T>G c.9770T>G (p.Leu3257Ter) c.9749T>G (p.Leu3250Ter) c.9672+492T>G (n.9672+492T>G) c.9662T>G (p.Leu3221Ter) c.9656T>G (p.Leu3219Ter) c.8096T>G (p.Leu2699Ter) c.7589T>G (p.Leu2530Ter) c.3056T>G (p.Leu1019Ter) c.9794T>G (p.Leu3265Ter) c.9743T>G (p.Leu3248Ter) n.10304T>G | |
6 | g.152368979A>G | CA366137012 | SYNE1 | c.1151T>C (p.Leu384Ser) c.9800T>C (p.Leu3267Ser) c.9821T>C (p.Leu3274Ser) c.9866T>C (p.Leu3289Ser) c.1148T>C (p.Leu383Ser) c.244+492T>C n.1349T>C c.9770T>C (p.Leu3257Ser) c.9749T>C (p.Leu3250Ser) c.9672+492T>C (n.9672+492T>C) c.9662T>C (p.Leu3221Ser) c.9656T>C (p.Leu3219Ser) c.8096T>C (p.Leu2699Ser) c.7589T>C (p.Leu2530Ser) c.3056T>C (p.Leu1019Ser) c.9794T>C (p.Leu3265Ser) c.9743T>C (p.Leu3248Ser) n.10304T>C | |
6 | g.152368979A>T | CA366137010 | SYNE1 | c.1151T>A (p.Leu384Ter) c.9800T>A (p.Leu3267Ter) c.9821T>A (p.Leu3274Ter) c.9866T>A (p.Leu3289Ter) c.1148T>A (p.Leu383Ter) c.244+492T>A n.1349T>A c.9770T>A (p.Leu3257Ter) c.9749T>A (p.Leu3250Ter) c.9672+492T>A (n.9672+492T>A) c.9662T>A (p.Leu3221Ter) c.9656T>A (p.Leu3219Ter) c.8096T>A (p.Leu2699Ter) c.7589T>A (p.Leu2530Ter) c.3056T>A (p.Leu1019Ter) c.9794T>A (p.Leu3265Ter) c.9743T>A (p.Leu3248Ter) n.10304T>A | |
6 | g.152368980A= | CA1673300196 | SYNE1 | c.1150T= (p.Leu384=) c.9799T= (p.Leu3267=) c.9820T= (p.Leu3274=) c.9865T= (p.Leu3289=) c.1147T= (p.Leu383=) c.244+491T= n.1348T= c.9769T= (p.Leu3257=) c.9748T= (p.Leu3250=) c.9672+491T= (n.9672+491T=) c.9661T= (p.Leu3221=) c.9655T= (p.Leu3219=) c.8095T= (p.Leu2699=) c.7588T= (p.Leu2530=) c.3055T= (p.Leu1019=) c.9793T= (p.Leu3265=) c.9742T= (p.Leu3248=) n.10303T= | |
6 | g.152368980A>C | CA366137018 | SYNE1 | c.1150T>G (p.Leu384Val) c.9799T>G (p.Leu3267Val) c.9820T>G (p.Leu3274Val) c.9865T>G (p.Leu3289Val) c.1147T>G (p.Leu383Val) c.244+491T>G n.1348T>G c.9769T>G (p.Leu3257Val) c.9748T>G (p.Leu3250Val) c.9672+491T>G (n.9672+491T>G) c.9661T>G (p.Leu3221Val) c.9655T>G (p.Leu3219Val) c.8095T>G (p.Leu2699Val) c.7588T>G (p.Leu2530Val) c.3055T>G (p.Leu1019Val) c.9793T>G (p.Leu3265Val) c.9742T>G (p.Leu3248Val) n.10303T>G | |
6 | g.152368980A>G | CA452760832 | SYNE1 | c.1150T>C (p.Leu384=) c.9799T>C (p.Leu3267=) c.9820T>C (p.Leu3274=) c.9865T>C (p.Leu3289=) c.1147T>C (p.Leu383=) c.244+491T>C n.1348T>C c.9769T>C (p.Leu3257=) c.9748T>C (p.Leu3250=) c.9672+491T>C (n.9672+491T>C) c.9661T>C (p.Leu3221=) c.9655T>C (p.Leu3219=) c.8095T>C (p.Leu2699=) c.7588T>C (p.Leu2530=) c.3055T>C (p.Leu1019=) c.9793T>C (p.Leu3265=) c.9742T>C (p.Leu3248=) n.10303T>C | |
6 | g.152368980A>T | CA366137019 | SYNE1 | c.1150T>A (p.Leu384Ile) c.9799T>A (p.Leu3267Ile) c.9820T>A (p.Leu3274Ile) c.9865T>A (p.Leu3289Ile) c.1147T>A (p.Leu383Ile) c.244+491T>A n.1348T>A c.9769T>A (p.Leu3257Ile) c.9748T>A (p.Leu3250Ile) c.9672+491T>A (n.9672+491T>A) c.9661T>A (p.Leu3221Ile) c.9655T>A (p.Leu3219Ile) c.8095T>A (p.Leu2699Ile) c.7588T>A (p.Leu2530Ile) c.3055T>A (p.Leu1019Ile) c.9793T>A (p.Leu3265Ile) c.9742T>A (p.Leu3248Ile) n.10303T>A | ClinVar dbSNP |
6 | g.152368981A= | CA1673300198 | SYNE1 | c.1149T= (p.Asn383=) c.9798T= (p.Asn3266=) c.9819T= (p.Asn3273=) c.9864T= (p.Asn3288=) c.1146T= (p.Asn382=) c.244+490T= n.1347T= c.9768T= (p.Asn3256=) c.9747T= (p.Asn3249=) c.9672+490T= (n.9672+490T=) c.9660T= (p.Asn3220=) c.9654T= (p.Asn3218=) c.8094T= (p.Asn2698=) c.7587T= (p.Asn2529=) c.3054T= (p.Asn1018=) c.9792T= (p.Asn3264=) c.9741T= (p.Asn3247=) n.10302T= | |
6 | g.152368981A>C | CA366137021 | SYNE1 | c.1149T>G (p.Asn383Lys) c.9798T>G (p.Asn3266Lys) c.9819T>G (p.Asn3273Lys) c.9864T>G (p.Asn3288Lys) c.1146T>G (p.Asn382Lys) c.244+490T>G n.1347T>G c.9768T>G (p.Asn3256Lys) c.9747T>G (p.Asn3249Lys) c.9672+490T>G (n.9672+490T>G) c.9660T>G (p.Asn3220Lys) c.9654T>G (p.Asn3218Lys) c.8094T>G (p.Asn2698Lys) c.7587T>G (p.Asn2529Lys) c.3054T>G (p.Asn1018Lys) c.9792T>G (p.Asn3264Lys) c.9741T>G (p.Asn3247Lys) n.10302T>G | |
6 | g.152368981A>G | CA452760836 | SYNE1 | c.1149T>C (p.Asn383=) c.9798T>C (p.Asn3266=) c.9819T>C (p.Asn3273=) c.9864T>C (p.Asn3288=) c.1146T>C (p.Asn382=) c.244+490T>C n.1347T>C c.9768T>C (p.Asn3256=) c.9747T>C (p.Asn3249=) c.9672+490T>C (n.9672+490T>C) c.9660T>C (p.Asn3220=) c.9654T>C (p.Asn3218=) c.8094T>C (p.Asn2698=) c.7587T>C (p.Asn2529=) c.3054T>C (p.Asn1018=) c.9792T>C (p.Asn3264=) c.9741T>C (p.Asn3247=) n.10302T>C | dbSNP |
6 | g.152368981A>T | CA366137024 | SYNE1 | c.1149T>A (p.Asn383Lys) c.9798T>A (p.Asn3266Lys) c.9819T>A (p.Asn3273Lys) c.9864T>A (p.Asn3288Lys) c.1146T>A (p.Asn382Lys) c.244+490T>A n.1347T>A c.9768T>A (p.Asn3256Lys) c.9747T>A (p.Asn3249Lys) c.9672+490T>A (n.9672+490T>A) c.9660T>A (p.Asn3220Lys) c.9654T>A (p.Asn3218Lys) c.8094T>A (p.Asn2698Lys) c.7587T>A (p.Asn2529Lys) c.3054T>A (p.Asn1018Lys) c.9792T>A (p.Asn3264Lys) c.9741T>A (p.Asn3247Lys) n.10302T>A | |
6 | g.152368982T>A | CA366137027 | SYNE1 | c.1148A>T (p.Asn383Ile) c.9797A>T (p.Asn3266Ile) c.9818A>T (p.Asn3273Ile) c.9863A>T (p.Asn3288Ile) c.1145A>T (p.Asn382Ile) c.244+489A>T n.1346A>T c.9767A>T (p.Asn3256Ile) c.9746A>T (p.Asn3249Ile) c.9672+489A>T (n.9672+489A>T) c.9659A>T (p.Asn3220Ile) c.9653A>T (p.Asn3218Ile) c.8093A>T (p.Asn2698Ile) c.7586A>T (p.Asn2529Ile) c.3053A>T (p.Asn1018Ile) c.9791A>T (p.Asn3264Ile) c.9740A>T (p.Asn3247Ile) n.10301A>T | |
6 | g.152368982T>C | CA4057208 | SYNE1 | c.1148A>G (p.Asn383Ser) c.9797A>G (p.Asn3266Ser) c.9818A>G (p.Asn3273Ser) c.9863A>G (p.Asn3288Ser) c.1145A>G (p.Asn382Ser) c.244+489A>G n.1346A>G c.9767A>G (p.Asn3256Ser) c.9746A>G (p.Asn3249Ser) c.9672+489A>G (n.9672+489A>G) c.9659A>G (p.Asn3220Ser) c.9653A>G (p.Asn3218Ser) c.8093A>G (p.Asn2698Ser) c.7586A>G (p.Asn2529Ser) c.3053A>G (p.Asn1018Ser) c.9791A>G (p.Asn3264Ser) c.9740A>G (p.Asn3247Ser) n.10301A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152368982T>G | CA366137031 | SYNE1 | c.1148A>C (p.Asn383Thr) c.9797A>C (p.Asn3266Thr) c.9818A>C (p.Asn3273Thr) c.9863A>C (p.Asn3288Thr) c.1145A>C (p.Asn382Thr) c.244+489A>C n.1346A>C c.9767A>C (p.Asn3256Thr) c.9746A>C (p.Asn3249Thr) c.9672+489A>C (n.9672+489A>C) c.9659A>C (p.Asn3220Thr) c.9653A>C (p.Asn3218Thr) c.8093A>C (p.Asn2698Thr) c.7586A>C (p.Asn2529Thr) c.3053A>C (p.Asn1018Thr) c.9791A>C (p.Asn3264Thr) c.9740A>C (p.Asn3247Thr) n.10301A>C | gnomAD v4 |
6 | g.152368982T= | CA1673300200 | SYNE1 | c.1148A= (p.Asn383=) c.9797A= (p.Asn3266=) c.9818A= (p.Asn3273=) c.9863A= (p.Asn3288=) c.1145A= (p.Asn382=) c.244+489A= n.1346A= c.9767A= (p.Asn3256=) c.9746A= (p.Asn3249=) c.9672+489A= (n.9672+489A=) c.9659A= (p.Asn3220=) c.9653A= (p.Asn3218=) c.8093A= (p.Asn2698=) c.7586A= (p.Asn2529=) c.3053A= (p.Asn1018=) c.9791A= (p.Asn3264=) c.9740A= (p.Asn3247=) n.10301A= | |
6 | g.152368983T>A | CA366137041 | SYNE1 | c.1147A>T (p.Asn383Tyr) c.9796A>T (p.Asn3266Tyr) c.9817A>T (p.Asn3273Tyr) c.9862A>T (p.Asn3288Tyr) c.1144A>T (p.Asn382Tyr) c.244+488A>T n.1345A>T c.9766A>T (p.Asn3256Tyr) c.9745A>T (p.Asn3249Tyr) c.9672+488A>T (n.9672+488A>T) c.9658A>T (p.Asn3220Tyr) c.9652A>T (p.Asn3218Tyr) c.8092A>T (p.Asn2698Tyr) c.7585A>T (p.Asn2529Tyr) c.3052A>T (p.Asn1018Tyr) c.9790A>T (p.Asn3264Tyr) c.9739A>T (p.Asn3247Tyr) n.10300A>T | |
6 | g.152368983T>C | CA4057209 | SYNE1 | c.1147A>G (p.Asn383Asp) c.9796A>G (p.Asn3266Asp) c.9817A>G (p.Asn3273Asp) c.9862A>G (p.Asn3288Asp) c.1144A>G (p.Asn382Asp) c.244+488A>G n.1345A>G c.9766A>G (p.Asn3256Asp) c.9745A>G (p.Asn3249Asp) c.9672+488A>G (n.9672+488A>G) c.9658A>G (p.Asn3220Asp) c.9652A>G (p.Asn3218Asp) c.8092A>G (p.Asn2698Asp) c.7585A>G (p.Asn2529Asp) c.3052A>G (p.Asn1018Asp) c.9790A>G (p.Asn3264Asp) c.9739A>G (p.Asn3247Asp) n.10300A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152368983T>G | CA366137047 | SYNE1 | c.1147A>C (p.Asn383His) c.9796A>C (p.Asn3266His) c.9817A>C (p.Asn3273His) c.9862A>C (p.Asn3288His) c.1144A>C (p.Asn382His) c.244+488A>C n.1345A>C c.9766A>C (p.Asn3256His) c.9745A>C (p.Asn3249His) c.9672+488A>C (n.9672+488A>C) c.9658A>C (p.Asn3220His) c.9652A>C (p.Asn3218His) c.8092A>C (p.Asn2698His) c.7585A>C (p.Asn2529His) c.3052A>C (p.Asn1018His) c.9790A>C (p.Asn3264His) c.9739A>C (p.Asn3247His) n.10300A>C | |
6 | g.152368983T= | CA1673300201 | SYNE1 | c.1147A= (p.Asn383=) c.9796A= (p.Asn3266=) c.9817A= (p.Asn3273=) c.9862A= (p.Asn3288=) c.1144A= (p.Asn382=) c.244+488A= n.1345A= c.9766A= (p.Asn3256=) c.9745A= (p.Asn3249=) c.9672+488A= (n.9672+488A=) c.9658A= (p.Asn3220=) c.9652A= (p.Asn3218=) c.8092A= (p.Asn2698=) c.7585A= (p.Asn2529=) c.3052A= (p.Asn1018=) c.9790A= (p.Asn3264=) c.9739A= (p.Asn3247=) n.10300A= | |
6 | g.152368984G>A | CA452760850 | SYNE1 | c.1146C>T (p.Ser382=) c.9795C>T (p.Ser3265=) c.9816C>T (p.Ser3272=) c.9861C>T (p.Ser3287=) c.1143C>T (p.Ser381=) c.244+487C>T n.1344C>T c.9765C>T (p.Ser3255=) c.9744C>T (p.Ser3248=) c.9672+487C>T (n.9672+487C>T) c.9657C>T (p.Ser3219=) c.9651C>T (p.Ser3217=) c.8091C>T (p.Ser2697=) c.7584C>T (p.Ser2528=) c.3051C>T (p.Ser1017=) c.9789C>T (p.Ser3263=) c.9738C>T (p.Ser3246=) n.10299C>T |