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.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 | |
| 6 | g.152368984G>C | CA366137049 | SYNE1 | c.1146C>G (p.Ser382Arg) c.9795C>G (p.Ser3265Arg) c.9816C>G (p.Ser3272Arg) c.9861C>G (p.Ser3287Arg) c.1143C>G (p.Ser381Arg) c.244+487C>G n.1344C>G c.9765C>G (p.Ser3255Arg) c.9744C>G (p.Ser3248Arg) c.9672+487C>G (n.9672+487C>G) c.9657C>G (p.Ser3219Arg) c.9651C>G (p.Ser3217Arg) c.8091C>G (p.Ser2697Arg) c.7584C>G (p.Ser2528Arg) c.3051C>G (p.Ser1017Arg) c.9789C>G (p.Ser3263Arg) c.9738C>G (p.Ser3246Arg) n.10299C>G | |
| 6 | g.152368984G>T | CA366137060 | SYNE1 | c.1146C>A (p.Ser382Arg) c.9795C>A (p.Ser3265Arg) c.9816C>A (p.Ser3272Arg) c.9861C>A (p.Ser3287Arg) c.1143C>A (p.Ser381Arg) c.244+487C>A n.1344C>A c.9765C>A (p.Ser3255Arg) c.9744C>A (p.Ser3248Arg) c.9672+487C>A (n.9672+487C>A) c.9657C>A (p.Ser3219Arg) c.9651C>A (p.Ser3217Arg) c.8091C>A (p.Ser2697Arg) c.7584C>A (p.Ser2528Arg) c.3051C>A (p.Ser1017Arg) c.9789C>A (p.Ser3263Arg) c.9738C>A (p.Ser3246Arg) n.10299C>A | |
| 6 | g.152368985C>A | CA150218105 | SYNE1 | c.1145G>T (p.Ser382Ile) c.9794G>T (p.Ser3265Ile) c.9815G>T (p.Ser3272Ile) c.9860G>T (p.Ser3287Ile) c.1142G>T (p.Ser381Ile) c.244+486G>T n.1343G>T c.9764G>T (p.Ser3255Ile) c.9743G>T (p.Ser3248Ile) c.9672+486G>T (n.9672+486G>T) c.9656G>T (p.Ser3219Ile) c.9650G>T (p.Ser3217Ile) c.8090G>T (p.Ser2697Ile) c.7583G>T (p.Ser2528Ile) c.3050G>T (p.Ser1017Ile) c.9788G>T (p.Ser3263Ile) c.9737G>T (p.Ser3246Ile) n.10298G>T | dbSNP |
| 6 | g.152368985C= | CA1673300202 | SYNE1 | c.1145G= (p.Ser382=) c.9794G= (p.Ser3265=) c.9815G= (p.Ser3272=) c.9860G= (p.Ser3287=) c.1142G= (p.Ser381=) c.244+486G= n.1343G= c.9764G= (p.Ser3255=) c.9743G= (p.Ser3248=) c.9672+486G= (n.9672+486G=) c.9656G= (p.Ser3219=) c.9650G= (p.Ser3217=) c.8090G= (p.Ser2697=) c.7583G= (p.Ser2528=) c.3050G= (p.Ser1017=) c.9788G= (p.Ser3263=) c.9737G= (p.Ser3246=) n.10298G= | |
| 6 | g.152368985C>G | CA366137064 | SYNE1 | c.1145G>C (p.Ser382Thr) c.9794G>C (p.Ser3265Thr) c.9815G>C (p.Ser3272Thr) c.9860G>C (p.Ser3287Thr) c.1142G>C (p.Ser381Thr) c.244+486G>C n.1343G>C c.9764G>C (p.Ser3255Thr) c.9743G>C (p.Ser3248Thr) c.9672+486G>C (n.9672+486G>C) c.9656G>C (p.Ser3219Thr) c.9650G>C (p.Ser3217Thr) c.8090G>C (p.Ser2697Thr) c.7583G>C (p.Ser2528Thr) c.3050G>C (p.Ser1017Thr) c.9788G>C (p.Ser3263Thr) c.9737G>C (p.Ser3246Thr) n.10298G>C | |
| 6 | g.152368985C>T | CA366137063 | SYNE1 | c.1145G>A (p.Ser382Asn) c.9794G>A (p.Ser3265Asn) c.9815G>A (p.Ser3272Asn) c.9860G>A (p.Ser3287Asn) c.1142G>A (p.Ser381Asn) c.244+486G>A n.1343G>A c.9764G>A (p.Ser3255Asn) c.9743G>A (p.Ser3248Asn) c.9672+486G>A (n.9672+486G>A) c.9656G>A (p.Ser3219Asn) c.9650G>A (p.Ser3217Asn) c.8090G>A (p.Ser2697Asn) c.7583G>A (p.Ser2528Asn) c.3050G>A (p.Ser1017Asn) c.9788G>A (p.Ser3263Asn) c.9737G>A (p.Ser3246Asn) n.10298G>A | |
| 6 | g.152368986T>A | CA366137066 | SYNE1 | c.1144A>T (p.Ser382Cys) c.9793A>T (p.Ser3265Cys) c.9814A>T (p.Ser3272Cys) c.9859A>T (p.Ser3287Cys) c.1141A>T (p.Ser381Cys) c.244+485A>T n.1342A>T c.9763A>T (p.Ser3255Cys) c.9742A>T (p.Ser3248Cys) c.9672+485A>T (n.9672+485A>T) c.9655A>T (p.Ser3219Cys) c.9649A>T (p.Ser3217Cys) c.8089A>T (p.Ser2697Cys) c.7582A>T (p.Ser2528Cys) c.3049A>T (p.Ser1017Cys) c.9787A>T (p.Ser3263Cys) c.9736A>T (p.Ser3246Cys) n.10297A>T | |
| 6 | g.152368986T>C | CA366137068 | SYNE1 | c.1144A>G (p.Ser382Gly) c.9793A>G (p.Ser3265Gly) c.9814A>G (p.Ser3272Gly) c.9859A>G (p.Ser3287Gly) c.1141A>G (p.Ser381Gly) c.244+485A>G n.1342A>G c.9763A>G (p.Ser3255Gly) c.9742A>G (p.Ser3248Gly) c.9672+485A>G (n.9672+485A>G) c.9655A>G (p.Ser3219Gly) c.9649A>G (p.Ser3217Gly) c.8089A>G (p.Ser2697Gly) c.7582A>G (p.Ser2528Gly) c.3049A>G (p.Ser1017Gly) c.9787A>G (p.Ser3263Gly) c.9736A>G (p.Ser3246Gly) n.10297A>G | |
| 6 | g.152368986T>G | CA366137070 | SYNE1 | c.1144A>C (p.Ser382Arg) c.9793A>C (p.Ser3265Arg) c.9814A>C (p.Ser3272Arg) c.9859A>C (p.Ser3287Arg) c.1141A>C (p.Ser381Arg) c.244+485A>C n.1342A>C c.9763A>C (p.Ser3255Arg) c.9742A>C (p.Ser3248Arg) c.9672+485A>C (n.9672+485A>C) c.9655A>C (p.Ser3219Arg) c.9649A>C (p.Ser3217Arg) c.8089A>C (p.Ser2697Arg) c.7582A>C (p.Ser2528Arg) c.3049A>C (p.Ser1017Arg) c.9787A>C (p.Ser3263Arg) c.9736A>C (p.Ser3246Arg) n.10297A>C | |
| 6 | g.152368986_152368987dup | CA1673300203 | SYNE1 | c.1143_1144dup (p.Ser382LysfsTer4) c.9792_9793dup (p.Ser3265LysfsTer4) c.9813_9814dup (p.Ser3272LysfsTer4) c.9858_9859dup (p.Ser3287LysfsTer4) c.1140_1141dup (p.Ser381LysfsTer4) c.244+484_244+485dup n.1341_1342dup c.9762_9763dup (p.Ser3255LysfsTer4) c.9741_9742dup (p.Ser3248LysfsTer4) c.9672+484_9672+485dup (n.9672+484_9672+485dup) c.9654_9655dup (p.Ser3219LysfsTer4) c.9648_9649dup (p.Ser3217LysfsTer4) c.8088_8089dup (p.Ser2697LysfsTer4) c.7581_7582dup (p.Ser2528LysfsTer4) c.3048_3049dup (p.Ser1017LysfsTer4) c.9786_9787dup (p.Ser3263LysfsTer4) c.9735_9736dup (p.Ser3246LysfsTer4) n.10296_10297dup | dbSNP |
| 6 | g.152368987T>A | CA452760860 | SYNE1 | c.1143A>T (p.Leu381=) c.9792A>T (p.Leu3264=) c.9813A>T (p.Leu3271=) c.9858A>T (p.Leu3286=) c.1140A>T (p.Leu380=) c.244+484A>T n.1341A>T c.9762A>T (p.Leu3254=) c.9741A>T (p.Leu3247=) c.9672+484A>T (n.9672+484A>T) c.9654A>T (p.Leu3218=) c.9648A>T (p.Leu3216=) c.8088A>T (p.Leu2696=) c.7581A>T (p.Leu2527=) c.3048A>T (p.Leu1016=) c.9786A>T (p.Leu3262=) c.9735A>T (p.Leu3245=) n.10296A>T | |
| 6 | g.152368987T>C | CA452760862 | SYNE1 | c.1143A>G (p.Leu381=) c.9792A>G (p.Leu3264=) c.9813A>G (p.Leu3271=) c.9858A>G (p.Leu3286=) c.1140A>G (p.Leu380=) c.244+484A>G n.1341A>G c.9762A>G (p.Leu3254=) c.9741A>G (p.Leu3247=) c.9672+484A>G (n.9672+484A>G) c.9654A>G (p.Leu3218=) c.9648A>G (p.Leu3216=) c.8088A>G (p.Leu2696=) c.7581A>G (p.Leu2527=) c.3048A>G (p.Leu1016=) c.9786A>G (p.Leu3262=) c.9735A>G (p.Leu3245=) n.10296A>G | |
| 6 | g.152368987T>G | CA452760865 | SYNE1 | c.1143A>C (p.Leu381=) c.9792A>C (p.Leu3264=) c.9813A>C (p.Leu3271=) c.9858A>C (p.Leu3286=) c.1140A>C (p.Leu380=) c.244+484A>C n.1341A>C c.9762A>C (p.Leu3254=) c.9741A>C (p.Leu3247=) c.9672+484A>C (n.9672+484A>C) c.9654A>C (p.Leu3218=) c.9648A>C (p.Leu3216=) c.8088A>C (p.Leu2696=) c.7581A>C (p.Leu2527=) c.3048A>C (p.Leu1016=) c.9786A>C (p.Leu3262=) c.9735A>C (p.Leu3245=) n.10296A>C | |
| 6 | g.152368988A>C | CA366137071 | SYNE1 | c.1142T>G (p.Leu381Arg) c.9791T>G (p.Leu3264Arg) c.9812T>G (p.Leu3271Arg) c.9857T>G (p.Leu3286Arg) c.1139T>G (p.Leu380Arg) c.244+483T>G n.1340T>G c.9761T>G (p.Leu3254Arg) c.9740T>G (p.Leu3247Arg) c.9672+483T>G (n.9672+483T>G) c.9653T>G (p.Leu3218Arg) c.9647T>G (p.Leu3216Arg) c.8087T>G (p.Leu2696Arg) c.7580T>G (p.Leu2527Arg) c.3047T>G (p.Leu1016Arg) c.9785T>G (p.Leu3262Arg) c.9734T>G (p.Leu3245Arg) n.10295T>G | |
| 6 | g.152368988A>G | CA366137072 | SYNE1 | c.1142T>C (p.Leu381Pro) c.9791T>C (p.Leu3264Pro) c.9812T>C (p.Leu3271Pro) c.9857T>C (p.Leu3286Pro) c.1139T>C (p.Leu380Pro) c.244+483T>C n.1340T>C c.9761T>C (p.Leu3254Pro) c.9740T>C (p.Leu3247Pro) c.9672+483T>C (n.9672+483T>C) c.9653T>C (p.Leu3218Pro) c.9647T>C (p.Leu3216Pro) c.8087T>C (p.Leu2696Pro) c.7580T>C (p.Leu2527Pro) c.3047T>C (p.Leu1016Pro) c.9785T>C (p.Leu3262Pro) c.9734T>C (p.Leu3245Pro) n.10295T>C | |
| 6 | g.152368988A>T | CA366137083 | SYNE1 | c.1142T>A (p.Leu381Gln) c.9791T>A (p.Leu3264Gln) c.9812T>A (p.Leu3271Gln) c.9857T>A (p.Leu3286Gln) c.1139T>A (p.Leu380Gln) c.244+483T>A n.1340T>A c.9761T>A (p.Leu3254Gln) c.9740T>A (p.Leu3247Gln) c.9672+483T>A (n.9672+483T>A) c.9653T>A (p.Leu3218Gln) c.9647T>A (p.Leu3216Gln) c.8087T>A (p.Leu2696Gln) c.7580T>A (p.Leu2527Gln) c.3047T>A (p.Leu1016Gln) c.9785T>A (p.Leu3262Gln) c.9734T>A (p.Leu3245Gln) n.10295T>A |