Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.5603286_5603288del | CA2681654513 | FSCN1 | c.862_864del (p.Glu288del) c.28_30del (p.Glu10del) n.415_417del | gnomAD v4 |
7 | g.5603283_5603295delinsGAGGAGACCGACC | CA1685036725 | FSCN1 | c.859_871delinsGAGGAGACCGACC (p.Glu287=) c.25_37delinsGAGGAGACCGACC (p.Glu9=) n.412_424delinsGAGGAGACCGACC | |
7 | g.5603292_5603303del | CA4147446 | FSCN1 | c.868_879del (p.Asp290_Thr293del) c.34_45del (p.Asp12_Thr15del) n.421_432del | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603286G>A | CA366723057 | FSCN1 | c.862G>A (p.Glu288Lys) c.28G>A (p.Glu10Lys) n.415G>A | |
7 | g.5603286G>C | CA366723059 | FSCN1 | c.862G>C (p.Glu288Gln) c.28G>C (p.Glu10Gln) n.415G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603286G= | CA1685036744 | FSCN1 | c.862G= (p.Glu288=) c.28G= (p.Glu10=) n.415G= | |
7 | g.5603286G>T | CA366723061 | FSCN1 | c.862G>T (p.Glu288Ter) c.28G>T (p.Glu10Ter) n.415G>T | |
7 | g.5603287A>C | CA366723064 | FSCN1 | c.863A>C (p.Glu288Ala) c.29A>C (p.Glu10Ala) n.416A>C | |
7 | g.5603287A>G | CA366723065 | FSCN1 | c.863A>G (p.Glu288Gly) c.29A>G (p.Glu10Gly) n.416A>G | |
7 | g.5603287A>T | CA366723067 | FSCN1 | c.863A>T (p.Glu288Val) c.29A>T (p.Glu10Val) n.416A>T | |
7 | g.5603288G>A | CA453639880 | FSCN1 | c.864G>A (p.Glu288=) c.30G>A (p.Glu10=) n.417G>A | |
7 | g.5603288G>C | CA366723069 | FSCN1 | c.864G>C (p.Glu288Asp) c.30G>C (p.Glu10Asp) n.417G>C | dbSNP |
7 | g.5603288G= | CA1685036749 | FSCN1 | c.864G= (p.Glu288=) c.30G= (p.Glu10=) n.417G= | |
7 | g.5603288G>T | CA366723070 | FSCN1 | c.864G>T (p.Glu288Asp) c.30G>T (p.Glu10Asp) n.417G>T | |
7 | g.5603289A= | CA1685036752 | FSCN1 | c.865A= (p.Thr289=) c.31A= (p.Thr11=) n.418A= | |
7 | g.5603289A>C | CA366723072 | FSCN1 | c.865A>C (p.Thr289Pro) c.31A>C (p.Thr11Pro) n.418A>C | |
7 | g.5603289A>G | CA153233511 | FSCN1 | c.865A>G (p.Thr289Ala) c.31A>G (p.Thr11Ala) n.418A>G | dbSNP |
7 | g.5603289A>T | CA366723074 | FSCN1 | c.865A>T (p.Thr289Ser) c.31A>T (p.Thr11Ser) n.418A>T | |
7 | g.5603290C>A | CA366723080 | FSCN1 | c.866C>A (p.Thr289Asn) c.32C>A (p.Thr11Asn) n.419C>A | |
7 | g.5603290C>G | CA366723076 | FSCN1 | c.866C>G (p.Thr289Ser) c.32C>G (p.Thr11Ser) n.419C>G | |
7 | g.5603290C>T | CA366723078 | FSCN1 | c.866C>T (p.Thr289Ile) c.32C>T (p.Thr11Ile) n.419C>T | gnomAD v4 |
7 | g.5603291C>A | CA453639882 | FSCN1 | c.867C>A (p.Thr289=) c.33C>A (p.Thr11=) n.420C>A | |
7 | g.5603291C= | CA1685036754 | FSCN1 | c.867C= (p.Thr289=) c.33C= (p.Thr11=) n.420C= | |
7 | g.5603291C>G | CA453639883 | FSCN1 | c.867C>G (p.Thr289=) c.33C>G (p.Thr11=) n.420C>G | gnomAD v4 |
7 | g.5603291C>T | CA453639884 | FSCN1 | c.867C>T (p.Thr289=) c.33C>T (p.Thr11=) n.420C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603292G>A | CA4147448 | FSCN1 | c.868G>A (p.Asp290Asn) c.34G>A (p.Asp12Asn) n.421G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603292G>C | CA366723083 | FSCN1 | c.868G>C (p.Asp290His) c.34G>C (p.Asp12His) n.421G>C | |
7 | g.5603292G= | CA1685036756 | FSCN1 | c.868G= (p.Asp290=) c.34G= (p.Asp12=) n.421G= | |
7 | g.5603292G>T | CA366723085 | FSCN1 | c.868G>T (p.Asp290Tyr) c.34G>T (p.Asp12Tyr) n.421G>T | gnomAD v4 |
7 | g.5603293A>C | CA366723086 | FSCN1 | c.869A>C (p.Asp290Ala) c.35A>C (p.Asp12Ala) n.422A>C | |
7 | g.5603293A>G | CA366723087 | FSCN1 | c.869A>G (p.Asp290Gly) c.35A>G (p.Asp12Gly) n.422A>G | |
7 | g.5603293A>T | CA366723089 | FSCN1 | c.869A>T (p.Asp290Val) c.35A>T (p.Asp12Val) n.422A>T | |
7 | g.5603294C>A | CA366723091 | FSCN1 | c.870C>A (p.Asp290Glu) c.36C>A (p.Asp12Glu) n.423C>A | |
7 | g.5603294C>G | CA366723093 | FSCN1 | c.870C>G (p.Asp290Glu) c.36C>G (p.Asp12Glu) n.423C>G | |
7 | g.5603294C>T | CA453639887 | FSCN1 | c.870C>T (p.Asp290=) c.36C>T (p.Asp12=) n.423C>T | |
7 | g.5603295C>A | CA366723095 | FSCN1 | c.871C>A (p.Gln291Lys) c.37C>A (p.Gln13Lys) n.424C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603295C= | CA1685036761 | FSCN1 | c.871C= (p.Gln291=) c.37C= (p.Gln13=) n.424C= | |
7 | g.5603295C>G | CA366723097 | FSCN1 | c.871C>G (p.Gln291Glu) c.37C>G (p.Gln13Glu) n.424C>G | |
7 | g.5603295C>T | CA366723100 | FSCN1 | c.871C>T (p.Gln291Ter) c.37C>T (p.Gln13Ter) n.424C>T | |
7 | g.5603296A= | CA1685036765 | FSCN1 | c.872A= (p.Gln291=) c.38A= (p.Gln13=) n.425A= | |
7 | g.5603296A>C | CA366723104 | FSCN1 | c.872A>C (p.Gln291Pro) c.38A>C (p.Gln13Pro) n.425A>C | |
7 | g.5603296A>G | CA366723107 | FSCN1 | c.872A>G (p.Gln291Arg) c.38A>G (p.Gln13Arg) n.425A>G | |
7 | g.5603296A>T | CA366723111 | FSCN1 | c.872A>T (p.Gln291Leu) c.38A>T (p.Gln13Leu) n.425A>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603297G>A | CA453639888 | FSCN1 | c.873G>A (p.Gln291=) c.39G>A (p.Gln13=) n.426G>A | |
7 | g.5603297G>C | CA366723117 | FSCN1 | c.873G>C (p.Gln291His) c.39G>C (p.Gln13His) n.426G>C | |
7 | g.5603297G>T | CA366723115 | FSCN1 | c.873G>T (p.Gln291His) c.39G>T (p.Gln13His) n.426G>T | |
7 | g.5603298G>A | CA366723120 | FSCN1 | c.874G>A (p.Glu292Lys) c.40G>A (p.Glu14Lys) n.427G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603298G>C | CA366723123 | FSCN1 | c.874G>C (p.Glu292Gln) c.40G>C (p.Glu14Gln) n.427G>C | |
7 | g.5603298G= | CA1685036768 | FSCN1 | c.874G= (p.Glu292=) c.40G= (p.Glu14=) n.427G= | |
7 | g.5603298G>T | CA366723126 | FSCN1 | c.874G>T (p.Glu292Ter) c.40G>T (p.Glu14Ter) n.427G>T | |
7 | g.5603299A>C | CA366723131 | FSCN1 | c.875A>C (p.Glu292Ala) c.41A>C (p.Glu14Ala) n.428A>C | |
7 | g.5603299A>G | CA366723136 | FSCN1 | c.875A>G (p.Glu292Gly) c.41A>G (p.Glu14Gly) n.428A>G | |
7 | g.5603299A>T | CA366723137 | FSCN1 | c.875A>T (p.Glu292Val) c.41A>T (p.Glu14Val) n.428A>T | |
7 | g.5603300G>A | CA453639890 | FSCN1 | c.876G>A (p.Glu292=) c.42G>A (p.Glu14=) n.429G>A | |
7 | g.5603300G>C | CA366723146 | FSCN1 | c.876G>C (p.Glu292Asp) c.42G>C (p.Glu14Asp) n.429G>C | gnomAD v4 |
7 | g.5603300G>T | CA366723142 | FSCN1 | c.876G>T (p.Glu292Asp) c.42G>T (p.Glu14Asp) n.429G>T | |
7 | g.5603301A= | CA1685036770 | FSCN1 | c.877A= (p.Thr293=) c.43A= (p.Thr15=) n.430A= | |
7 | g.5603301A>C | CA366723149 | FSCN1 | c.877A>C (p.Thr293Pro) c.43A>C (p.Thr15Pro) n.430A>C | dbSNP |
7 | g.5603301A>G | CA366723152 | FSCN1 | c.877A>G (p.Thr293Ala) c.43A>G (p.Thr15Ala) n.430A>G | gnomAD v4 |
7 | g.5603301A>T | CA366723154 | FSCN1 | c.877A>T (p.Thr293Ser) c.43A>T (p.Thr15Ser) n.430A>T | |
7 | g.5603302C>A | CA366723160 | FSCN1 | c.878C>A (p.Thr293Asn) c.44C>A (p.Thr15Asn) n.431C>A | |
7 | g.5603302C= | CA1685036777 | FSCN1 | c.878C= (p.Thr293=) c.44C= (p.Thr15=) n.431C= | |
7 | g.5603302C>G | CA366723164 | FSCN1 | c.878C>G (p.Thr293Ser) c.44C>G (p.Thr15Ser) n.431C>G | gnomAD v4 |
7 | g.5603302C>T | CA366723167 | FSCN1 | c.878C>T (p.Thr293Ile) c.44C>T (p.Thr15Ile) n.431C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603303C>A | CA453639891 | FSCN1 | c.879C>A (p.Thr293=) c.45C>A (p.Thr15=) n.432C>A | dbSNP gnomAD v4 |
7 | g.5603303C= | CA1685036779 | FSCN1 | c.879C= (p.Thr293=) c.45C= (p.Thr15=) n.432C= | |
7 | g.5603303C>G | CA453639892 | FSCN1 | c.879C>G (p.Thr293=) c.45C>G (p.Thr15=) n.432C>G | |
7 | g.5603303C>T | CA453639893 | FSCN1 | c.879C>T (p.Thr293=) c.45C>T (p.Thr15=) n.432C>T | dbSNP gnomAD v4 |
7 | g.5603304T>A | CA366723172 | FSCN1 | c.880T>A (p.Phe294Ile) c.46T>A (p.Phe16Ile) n.433T>A | |
7 | g.5603304T>C | CA366723179 | FSCN1 | c.880T>C (p.Phe294Leu) c.46T>C (p.Phe16Leu) n.433T>C | |
7 | g.5603304T>G | CA366723175 | FSCN1 | c.880T>G (p.Phe294Val) c.46T>G (p.Phe16Val) n.433T>G | |
7 | g.5603305T>A | CA366723184 | FSCN1 | c.881T>A (p.Phe294Tyr) c.47T>A (p.Phe16Tyr) n.434T>A | |
7 | g.5603305T>C | CA366723188 | FSCN1 | c.881T>C (p.Phe294Ser) c.47T>C (p.Phe16Ser) n.434T>C | |
7 | g.5603305T>G | CA366723191 | FSCN1 | c.881T>G (p.Phe294Cys) c.47T>G (p.Phe16Cys) n.434T>G | |
7 | g.5603306C>A | CA366723196 | FSCN1 | c.882C>A (p.Phe294Leu) c.48C>A (p.Phe16Leu) n.435C>A | gnomAD v4 |
7 | g.5603306C>G | CA366723205 | FSCN1 | c.882C>G (p.Phe294Leu) c.48C>G (p.Phe16Leu) n.435C>G | |
7 | g.5603306C>T | CA453639897 | FSCN1 | c.882C>T (p.Phe294=) c.48C>T (p.Phe16=) n.435C>T | |
7 | g.5603307C>A | CA366723210 | FSCN1 | c.883C>A (p.Gln295Lys) c.49C>A (p.Gln17Lys) n.436C>A | |
7 | g.5603307C>G | CA366723215 | FSCN1 | c.883C>G (p.Gln295Glu) c.49C>G (p.Gln17Glu) n.436C>G | |
7 | g.5603307C>T | CA366723218 | FSCN1 | c.883C>T (p.Gln295Ter) c.49C>T (p.Gln17Ter) n.436C>T | gnomAD v4 |
7 | g.5603308A>C | CA366723221 | FSCN1 | c.884A>C (p.Gln295Pro) c.50A>C (p.Gln17Pro) n.437A>C | |
7 | g.5603308A>G | CA366723224 | FSCN1 | c.884A>G (p.Gln295Arg) c.50A>G (p.Gln17Arg) n.437A>G | |
7 | g.5603308A>T | CA366723228 | FSCN1 | c.884A>T (p.Gln295Leu) c.50A>T (p.Gln17Leu) n.437A>T | |
7 | g.5603309G>A | CA453639898 | FSCN1 | c.885G>A (p.Gln295=) c.51G>A (p.Gln17=) n.438G>A | |
7 | g.5603309G>C | CA366723232 | FSCN1 | c.885G>C (p.Gln295His) c.51G>C (p.Gln17His) n.438G>C | |
7 | g.5603309G>T | CA366723234 | FSCN1 | c.885G>T (p.Gln295His) c.51G>T (p.Gln17His) n.438G>T | |
7 | g.5603310C>A | CA366723245 | FSCN1 | c.886C>A (p.Leu296Met) c.52C>A (p.Leu18Met) n.439C>A | |
7 | g.5603310C= | CA1685036782 | FSCN1 | c.886C= (p.Leu296=) c.52C= (p.Leu18=) n.439C= | |
7 | g.5603310C>G | CA366723240 | FSCN1 | c.886C>G (p.Leu296Val) c.52C>G (p.Leu18Val) n.439C>G | |
7 | g.5603310C>T | CA453639899 | FSCN1 | c.886C>T (p.Leu296=) c.52C>T (p.Leu18=) n.439C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603311T>A | CA366723249 | FSCN1 | c.887T>A (p.Leu296Gln) c.53T>A (p.Leu18Gln) n.440T>A | |
7 | g.5603311T>C | CA366723253 | FSCN1 | c.887T>C (p.Leu296Pro) c.53T>C (p.Leu18Pro) n.440T>C | |
7 | g.5603311T>G | CA366723256 | FSCN1 | c.887T>G (p.Leu296Arg) c.53T>G (p.Leu18Arg) n.440T>G | |
7 | g.5603312G>A | CA453639901 | FSCN1 | c.888G>A (p.Leu296=) c.54G>A (p.Leu18=) n.441G>A | |
7 | g.5603312G>C | CA453639902 | FSCN1 | c.888G>C (p.Leu296=) c.54G>C (p.Leu18=) n.441G>C | |
7 | g.5603312G>T | CA453639903 | FSCN1 | c.888G>T (p.Leu296=) c.54G>T (p.Leu18=) n.441G>T | |
7 | g.5603313G>A | CA366723258 | FSCN1 | c.889G>A (p.Glu297Lys) c.55G>A (p.Glu19Lys) n.442G>A | |
7 | g.5603313G>C | CA366723262 | FSCN1 | c.889G>C (p.Glu297Gln) c.55G>C (p.Glu19Gln) n.442G>C | |
7 | g.5603313G>T | CA366723265 | FSCN1 | c.889G>T (p.Glu297Ter) c.55G>T (p.Glu19Ter) n.442G>T | |
7 | g.5603314A= | CA1685036790 | FSCN1 | c.890A= (p.Glu297=) c.56A= (p.Glu19=) n.443A= | |
7 | g.5603314A>C | CA366723267 | FSCN1 | c.890A>C (p.Glu297Ala) c.56A>C (p.Glu19Ala) n.443A>C | |
7 | g.5603314A>G | CA366723270 | FSCN1 | c.890A>G (p.Glu297Gly) c.56A>G (p.Glu19Gly) n.443A>G | dbSNP gnomAD v4 |
7 | g.5603314A>T | CA366723273 | FSCN1 | c.890A>T (p.Glu297Val) c.56A>T (p.Glu19Val) n.443A>T | |
7 | g.5603315G>A | CA4147449 | FSCN1 | c.891G>A (p.Glu297=) c.57G>A (p.Glu19=) n.444G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603315G>C | CA366723281 | FSCN1 | c.891G>C (p.Glu297Asp) c.57G>C (p.Glu19Asp) n.444G>C | dbSNP |
7 | g.5603315G= | CA1685036795 | FSCN1 | c.891G= (p.Glu297=) c.57G= (p.Glu19=) n.444G= | |
7 | g.5603315G>T | CA366723283 | FSCN1 | c.891G>T (p.Glu297Asp) c.57G>T (p.Glu19Asp) n.444G>T | |
7 | g.5603316A>C | CA366723287 | FSCN1 | c.892A>C (p.Ile298Leu) c.58A>C (p.Ile20Leu) n.445A>C | |
7 | g.5603316A>G | CA366723295 | FSCN1 | c.892A>G (p.Ile298Val) c.58A>G (p.Ile20Val) n.445A>G | |
7 | g.5603316A>T | CA366723291 | FSCN1 | c.892A>T (p.Ile298Phe) c.58A>T (p.Ile20Phe) n.445A>T | |
7 | g.5603317T>A | CA366723300 | FSCN1 | c.893T>A (p.Ile298Asn) c.59T>A (p.Ile20Asn) n.446T>A | |
7 | g.5603317T>C | CA366723303 | FSCN1 | c.893T>C (p.Ile298Thr) c.59T>C (p.Ile20Thr) n.446T>C | |
7 | g.5603317T>G | CA366723305 | FSCN1 | c.893T>G (p.Ile298Ser) c.59T>G (p.Ile20Ser) n.446T>G | |
7 | g.5603318C>A | CA453639879 | FSCN1 | c.894C>A (p.Ile298=) c.60C>A (p.Ile20=) n.447C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603318C= | CA1685036805 | FSCN1 | c.894C= (p.Ile298=) c.60C= (p.Ile20=) n.447C= | |
7 | g.5603318C>G | CA366723310 | FSCN1 | c.894C>G (p.Ile298Met) c.60C>G (p.Ile20Met) n.447C>G | gnomAD v4 |
7 | g.5603318C>T | CA4147450 | FSCN1 | c.894C>T (p.Ile298=) c.60C>T (p.Ile20=) n.447C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.5603319G>A | CA4147451 | FSCN1 | c.895G>A (p.Asp299Asn) c.61G>A (p.Asp21Asn) n.448G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603319G>C | CA366723319 | FSCN1 | c.895G>C (p.Asp299His) c.61G>C (p.Asp21His) n.448G>C | |
7 | g.5603319G= | CA1685036809 | FSCN1 | c.895G= (p.Asp299=) c.61G= (p.Asp21=) n.448G= | |
7 | g.5603319G>T | CA366723322 | FSCN1 | c.895G>T (p.Asp299Tyr) c.61G>T (p.Asp21Tyr) n.448G>T | gnomAD v4 |
7 | g.5603320A= | CA1685036812 | FSCN1 | c.896A= (p.Asp299=) c.62A= (p.Asp21=) n.449A= | |
7 | g.5603320A>C | CA366723326 | FSCN1 | c.896A>C (p.Asp299Ala) c.62A>C (p.Asp21Ala) n.449A>C | |
7 | g.5603320A>G | CA366723333 | FSCN1 | c.896A>G (p.Asp299Gly) c.62A>G (p.Asp21Gly) n.449A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603320A>T | CA366723330 | FSCN1 | c.896A>T (p.Asp299Val) c.62A>T (p.Asp21Val) n.449A>T | dbSNP |
7 | g.5603321C>A | CA366723336 | FSCN1 | c.897C>A (p.Asp299Glu) c.63C>A (p.Asp21Glu) n.450C>A | |
7 | g.5603321C>G | CA366723339 | FSCN1 | c.897C>G (p.Asp299Glu) c.63C>G (p.Asp21Glu) n.450C>G | |
7 | g.5603321C>T | CA453639881 | FSCN1 | c.897C>T (p.Asp299=) c.63C>T (p.Asp21=) n.450C>T | |
7 | g.5603322C>A | CA366723343 | FSCN1 | c.898C>A (p.Arg300Ser) c.64C>A (p.Arg22Ser) n.451C>A | |
7 | g.5603322C= | CA1685036819 | FSCN1 | c.898C= (p.Arg300=) c.64C= (p.Arg22=) n.451C= | |
7 | g.5603322C>G | CA4147453 | FSCN1 | c.898C>G (p.Arg300Gly) c.64C>G (p.Arg22Gly) n.451C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603322C>T | CA4147452 | FSCN1 | c.898C>T (p.Arg300Cys) c.64C>T (p.Arg22Cys) n.451C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603323G>A | CA4147454 | FSCN1 | c.899G>A (p.Arg300His) c.65G>A (p.Arg22His) n.452G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603323G>C | CA366723349 | FSCN1 | c.899G>C (p.Arg300Pro) c.65G>C (p.Arg22Pro) n.452G>C | |
7 | g.5603323G= | CA1685036824 | FSCN1 | c.899G= (p.Arg300=) c.65G= (p.Arg22=) n.452G= | |
7 | g.5603323G>T | CA366723346 | FSCN1 | c.899G>T (p.Arg300Leu) c.65G>T (p.Arg22Leu) n.452G>T | gnomAD v4 |
7 | g.5603324C>A | CA453639885 | FSCN1 | c.900C>A (p.Arg300=) c.66C>A (p.Arg22=) n.453C>A | gnomAD v4 |
7 | g.5603324C= | CA1685036832 | FSCN1 | c.900C= (p.Arg300=) c.66C= (p.Arg22=) n.453C= | |
7 | g.5603324C>G | CA453639886 | FSCN1 | c.900C>G (p.Arg300=) c.66C>G (p.Arg22=) n.453C>G | |
7 | g.5603324C>T | CA4147455 | FSCN1 | c.900C>T (p.Arg300=) c.66C>T (p.Arg22=) n.453C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603325G>A | CA366723354 | FSCN1 | c.901G>A (p.Asp301Asn) c.67G>A (p.Asp23Asn) n.454G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603325G>C | CA366723356 | FSCN1 | c.901G>C (p.Asp301His) c.67G>C (p.Asp23His) n.454G>C | |
7 | g.5603325G= | CA1685036839 | FSCN1 | c.901G= (p.Asp301=) c.67G= (p.Asp23=) n.454G= | |
7 | g.5603325G>T | CA366723358 | FSCN1 | c.901G>T (p.Asp301Tyr) c.67G>T (p.Asp23Tyr) n.454G>T | |
7 | g.5603326A>C | CA366723361 | FSCN1 | c.902A>C (p.Asp301Ala) c.68A>C (p.Asp23Ala) n.455A>C | |
7 | g.5603326A>G | CA366723364 | FSCN1 | c.902A>G (p.Asp301Gly) c.68A>G (p.Asp23Gly) n.455A>G | |
7 | g.5603326A>T | CA366723367 | FSCN1 | c.902A>T (p.Asp301Val) c.68A>T (p.Asp23Val) n.455A>T | |
7 | g.5603327C>A | CA366723370 | FSCN1 | c.903C>A (p.Asp301Glu) c.69C>A (p.Asp23Glu) n.456C>A | |
7 | g.5603327C>G | CA366723373 | FSCN1 | c.903C>G (p.Asp301Glu) c.69C>G (p.Asp23Glu) n.456C>G | |
7 | g.5603327C>T | CA453639889 | FSCN1 | c.903C>T (p.Asp301=) c.69C>T (p.Asp23=) n.456C>T | |
7 | g.5603328A>C | CA366723376 | FSCN1 | c.904A>C (p.Thr302Pro) c.70A>C (p.Thr24Pro) n.457A>C | |
7 | g.5603328A>G | CA366723378 | FSCN1 | c.904A>G (p.Thr302Ala) c.70A>G (p.Thr24Ala) n.457A>G | |
7 | g.5603328A>T | CA366723380 | FSCN1 | c.904A>T (p.Thr302Ser) c.70A>T (p.Thr24Ser) n.457A>T | |
7 | g.5603329C>A | CA366723383 | FSCN1 | c.905C>A (p.Thr302Asn) c.71C>A (p.Thr24Asn) n.458C>A | gnomAD v4 |
7 | g.5603329C>G | CA366723387 | FSCN1 | c.905C>G (p.Thr302Ser) c.71C>G (p.Thr24Ser) n.458C>G | |
7 | g.5603329C>T | CA366723385 | FSCN1 | c.905C>T (p.Thr302Ile) c.71C>T (p.Thr24Ile) n.458C>T | COSMIC |
7 | g.5603330C>A | CA453639894 | FSCN1 | c.906C>A (p.Thr302=) c.72C>A (p.Thr24=) n.459C>A | |
7 | g.5603330C>G | CA453639895 | FSCN1 | c.906C>G (p.Thr302=) c.72C>G (p.Thr24=) n.459C>G | |
7 | g.5603330C>T | CA453639896 | FSCN1 | c.906C>T (p.Thr302=) c.72C>T (p.Thr24=) n.459C>T | |
7 | g.5603331A= | CA1685036842 | FSCN1 | c.907A= (p.Lys303=) c.73A= (p.Lys25=) n.460A= | |
7 | g.5603331A>C | CA366723388 | FSCN1 | c.907A>C (p.Lys303Gln) c.73A>C (p.Lys25Gln) n.460A>C | |
7 | g.5603331A>G | CA366723389 | FSCN1 | c.907A>G (p.Lys303Glu) c.73A>G (p.Lys25Glu) n.460A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603331A>T | CA366723391 | FSCN1 | c.907A>T (p.Lys303Ter) c.73A>T (p.Lys25Ter) n.460A>T | dbSNP |
7 | g.5603332A= | CA1685036847 | FSCN1 | c.908A= (p.Lys303=) c.74A= (p.Lys25=) n.461A= | |
7 | g.5603332A>C | CA366723395 | FSCN1 | c.908A>C (p.Lys303Thr) c.74A>C (p.Lys25Thr) n.461A>C | |
7 | g.5603332A>G | CA4147456 | FSCN1 | c.908A>G (p.Lys303Arg) c.74A>G (p.Lys25Arg) n.461A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603332A>T | CA366723398 | FSCN1 | c.908A>T (p.Lys303Ile) c.74A>T (p.Lys25Ile) n.461A>T | |
7 | g.5603333A= | CA1685036852 | FSCN1 | c.909A= (p.Lys303=) c.75A= (p.Lys25=) n.462A= | |
7 | g.5603333A>C | CA366723402 | FSCN1 | c.909A>C (p.Lys303Asn) c.75A>C (p.Lys25Asn) n.462A>C | |
7 | g.5603333A>G | CA4147457 | FSCN1 | c.909A>G (p.Lys303=) c.75A>G (p.Lys25=) n.462A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603333A>T | CA366723405 | FSCN1 | c.909A>T (p.Lys303Asn) c.75A>T (p.Lys25Asn) n.462A>T | |
7 | g.5603334A>C | CA366723408 | FSCN1 | c.910A>C (p.Lys304Gln) c.76A>C (p.Lys26Gln) n.463A>C | |
7 | g.5603334A>G | CA366723410 | FSCN1 | c.910A>G (p.Lys304Glu) c.76A>G (p.Lys26Glu) n.463A>G | gnomAD v4 |
7 | g.5603334A>T | CA366723417 | FSCN1 | c.910A>T (p.Lys304Ter) c.76A>T (p.Lys26Ter) n.463A>T | |
7 | g.5603335A= | CA1685036856 | FSCN1 | c.911A= (p.Lys304=) c.77A= (p.Lys26=) n.464A= | |
7 | g.5603335A>C | CA366723426 | FSCN1 | c.911A>C (p.Lys304Thr) c.77A>C (p.Lys26Thr) n.464A>C | |
7 | g.5603335A>G | CA366723428 | FSCN1 | c.911A>G (p.Lys304Arg) c.77A>G (p.Lys26Arg) n.464A>G | |
7 | g.5603335A>T | CA4147458 | FSCN1 | c.911A>T (p.Lys304Met) c.77A>T (p.Lys26Met) n.464A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603336G>A | CA453639900 | FSCN1 | c.912G>A (p.Lys304=) c.78G>A (p.Lys26=) n.465G>A | dbSNP gnomAD v2 |
7 | g.5603336G>C | CA366723433 | FSCN1 | c.912G>C (p.Lys304Asn) c.78G>C (p.Lys26Asn) n.465G>C | |
7 | g.5603336G= | CA1685036861 | FSCN1 | c.912G= (p.Lys304=) c.78G= (p.Lys26=) n.465G= | |
7 | g.5603336G>T | CA4147459 | FSCN1 | c.912G>T (p.Lys304Asn) c.78G>T (p.Lys26Asn) n.465G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603337T>A | CA366723440 | FSCN1 | c.913T>A (p.Cys305Ser) c.79T>A (p.Cys27Ser) n.466T>A | |
7 | g.5603337T>C | CA366723442 | FSCN1 | c.913T>C (p.Cys305Arg) c.79T>C (p.Cys27Arg) n.466T>C | |
7 | g.5603337T>G | CA366723445 | FSCN1 | c.913T>G (p.Cys305Gly) c.79T>G (p.Cys27Gly) n.466T>G | |
7 | g.5603338G>A | CA366723454 | FSCN1 | c.914G>A (p.Cys305Tyr) c.80G>A (p.Cys27Tyr) n.467G>A | |
7 | g.5603338G>C | CA366723450 | FSCN1 | c.914G>C (p.Cys305Ser) c.80G>C (p.Cys27Ser) n.467G>C | |
7 | g.5603338G>T | CA366723452 | FSCN1 | c.914G>T (p.Cys305Phe) c.80G>T (p.Cys27Phe) n.467G>T | |
7 | g.5603339T>A | CA366723458 | FSCN1 | c.915T>A (p.Cys305Ter) c.81T>A (p.Cys27Ter) n.468T>A | |
7 | g.5603339T>C | CA453639904 | FSCN1 | c.915T>C (p.Cys305=) c.81T>C (p.Cys27=) n.468T>C | dbSNP |
7 | g.5603339T>G | CA366723460 | FSCN1 | c.915T>G (p.Cys305Trp) c.81T>G (p.Cys27Trp) n.468T>G | |
7 | g.5603339T= | CA1685036866 | FSCN1 | c.915T= (p.Cys305=) c.81T= (p.Cys27=) n.468T= | |
7 | g.5603340G>A | CA366723462 | FSCN1 | c.916G>A (p.Ala306Thr) c.82G>A (p.Ala28Thr) n.469G>A | gnomAD v4 |
7 | g.5603340G>C | CA366723463 | FSCN1 | c.916G>C (p.Ala306Pro) c.82G>C (p.Ala28Pro) n.469G>C | |
7 | g.5603340G>T | CA366723466 | FSCN1 | c.916G>T (p.Ala306Ser) c.82G>T (p.Ala28Ser) n.469G>T | |
7 | g.5603341C>A | CA366723475 | FSCN1 | c.917C>A (p.Ala306Asp) c.83C>A (p.Ala28Asp) n.470C>A | dbSNP |
7 | g.5603341C= | CA1685036868 | FSCN1 | c.917C= (p.Ala306=) c.83C= (p.Ala28=) n.470C= | |
7 | g.5603341C>G | CA366723471 | FSCN1 | c.917C>G (p.Ala306Gly) c.83C>G (p.Ala28Gly) n.470C>G | |
7 | g.5603341C>T | CA366723473 | FSCN1 | c.917C>T (p.Ala306Val) c.83C>T (p.Ala28Val) n.470C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603342C>A | CA453639905 | FSCN1 | c.918C>A (p.Ala306=) c.84C>A (p.Ala28=) n.471C>A | |
7 | g.5603342C>G | CA453639907 | FSCN1 | c.918C>G (p.Ala306=) c.84C>G (p.Ala28=) n.471C>G | |
7 | g.5603342C>T | CA453639906 | FSCN1 | c.918C>T (p.Ala306=) c.84C>T (p.Ala28=) n.471C>T | |
7 | g.5603343T>A | CA366723478 | FSCN1 | c.919T>A (p.Phe307Ile) c.85T>A (p.Phe29Ile) n.472T>A | |
7 | g.5603343T>C | CA366723482 | FSCN1 | c.919T>C (p.Phe307Leu) c.85T>C (p.Phe29Leu) n.472T>C | |
7 | g.5603343T>G | CA366723484 | FSCN1 | c.919T>G (p.Phe307Val) c.85T>G (p.Phe29Val) n.472T>G | |
7 | g.5603344T>A | CA366723487 | FSCN1 | c.920T>A (p.Phe307Tyr) c.86T>A (p.Phe29Tyr) n.473T>A | |
7 | g.5603344T>C | CA366723489 | FSCN1 | c.920T>C (p.Phe307Ser) c.86T>C (p.Phe29Ser) n.473T>C | |
7 | g.5603344T>G | CA366723491 | FSCN1 | c.920T>G (p.Phe307Cys) c.86T>G (p.Phe29Cys) n.473T>G | |
7 | g.5603345C>A | CA366723500 | FSCN1 | c.921C>A (p.Phe307Leu) c.87C>A (p.Phe29Leu) n.474C>A | |
7 | g.5603345C>G | CA366723502 | FSCN1 | c.921C>G (p.Phe307Leu) c.87C>G (p.Phe29Leu) n.474C>G | |
7 | g.5603345C>T | CA453639908 | FSCN1 | c.921C>T (p.Phe307=) c.87C>T (p.Phe29=) n.474C>T | gnomAD v4 |
7 | g.5603346C>A | CA366723505 | FSCN1 | c.922C>A (p.Arg308Ser) c.88C>A (p.Arg30Ser) n.475C>A | |
7 | g.5603346C= | CA1685036871 | FSCN1 | c.922C= (p.Arg308=) c.88C= (p.Arg30=) n.475C= | |
7 | g.5603346C>G | CA366723511 | FSCN1 | c.922C>G (p.Arg308Gly) c.88C>G (p.Arg30Gly) n.475C>G | |
7 | g.5603346C>T | CA4147460 | FSCN1 | c.922C>T (p.Arg308Cys) c.88C>T (p.Arg30Cys) n.475C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603347G>A | CA4147461 | FSCN1 | c.923G>A (p.Arg308His) c.89G>A (p.Arg30His) n.476G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603347G>C | CA366723515 | FSCN1 | c.923G>C (p.Arg308Pro) c.89G>C (p.Arg30Pro) n.476G>C | gnomAD v4 |
7 | g.5603347G= | CA1685036876 | FSCN1 | c.923G= (p.Arg308=) c.89G= (p.Arg30=) n.476G= | |
7 | g.5603347G>T | CA366723518 | FSCN1 | c.923G>T (p.Arg308Leu) c.89G>T (p.Arg30Leu) n.476G>T | gnomAD v4 |
7 | g.5603348T>A | CA453639909 | FSCN1 | c.924T>A (p.Arg308=) c.90T>A (p.Arg30=) n.477T>A | |
7 | g.5603348T>C | CA453639910 | FSCN1 | c.924T>C (p.Arg308=) c.90T>C (p.Arg30=) n.477T>C | |
7 | g.5603348T>G | CA4147462 | FSCN1 | c.924T>G (p.Arg308=) c.90T>G (p.Arg30=) n.477T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603348T= | CA1685036879 | FSCN1 | c.924T= (p.Arg308=) c.90T= (p.Arg30=) n.477T= | |
7 | g.5603349A>C | CA366723524 | FSCN1 | c.925A>C (p.Thr309Pro) c.91A>C (p.Thr31Pro) n.478A>C | |
7 | g.5603349A>G | CA366723530 | FSCN1 | c.925A>G (p.Thr309Ala) c.91A>G (p.Thr31Ala) n.478A>G | |
7 | g.5603349A>T | CA366723526 | FSCN1 | c.925A>T (p.Thr309Ser) c.91A>T (p.Thr31Ser) n.478A>T | |
7 | g.5603350C>A | CA366723534 | FSCN1 | c.926C>A (p.Thr309Asn) c.92C>A (p.Thr31Asn) n.479C>A | |
7 | g.5603350C>G | CA366723537 | FSCN1 | c.926C>G (p.Thr309Ser) c.92C>G (p.Thr31Ser) n.479C>G | |
7 | g.5603350C>T | CA366723538 | FSCN1 | c.926C>T (p.Thr309Ile) c.92C>T (p.Thr31Ile) n.479C>T | COSMIC |
7 | g.5603351C>A | CA453639911 | FSCN1 | c.927C>A (p.Thr309=) c.93C>A (p.Thr31=) n.480C>A | |
7 | g.5603351C= | CA1685036883 | FSCN1 | c.927C= (p.Thr309=) c.93C= (p.Thr31=) n.480C= | |
7 | g.5603351C>G | CA453639912 | FSCN1 | c.927C>G (p.Thr309=) c.93C>G (p.Thr31=) n.480C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603351C>T | CA453639913 | FSCN1 | c.927C>T (p.Thr309=) c.93C>T (p.Thr31=) n.480C>T | |
7 | g.5603352C>A | CA366723543 | FSCN1 | c.928C>A (p.His310Asn) c.94C>A (p.His32Asn) n.481C>A | |
7 | g.5603352C>G | CA366723545 | FSCN1 | c.928C>G (p.His310Asp) c.94C>G (p.His32Asp) n.481C>G | |
7 | g.5603352C>T | CA366723547 | FSCN1 | c.928C>T (p.His310Tyr) c.94C>T (p.His32Tyr) n.481C>T | |
7 | g.5603353A>C | CA366723551 | FSCN1 | c.929A>C (p.His310Pro) c.95A>C (p.His32Pro) n.482A>C | |
7 | g.5603353A>G | CA366723554 | FSCN1 | c.929A>G (p.His310Arg) c.95A>G (p.His32Arg) n.482A>G | |
7 | g.5603353A>T | CA366723556 | FSCN1 | c.929A>T (p.His310Leu) c.95A>T (p.His32Leu) n.482A>T | |
7 | g.5603354C>A | CA366723560 | FSCN1 | c.930C>A (p.His310Gln) c.96C>A (p.His32Gln) n.483C>A | |
7 | g.5603354C>G | CA366723564 | FSCN1 | c.930C>G (p.His310Gln) c.96C>G (p.His32Gln) n.483C>G | gnomAD v4 |
7 | g.5603354C>T | CA453639914 | FSCN1 | c.930C>T (p.His310=) c.96C>T (p.His32=) n.483C>T | |
7 | g.5603355A= | CA1685036885 | FSCN1 | c.931A= (p.Thr311=) c.97A= (p.Thr33=) n.484A= | |
7 | g.5603355A>C | CA366723571 | FSCN1 | c.931A>C (p.Thr311Pro) c.97A>C (p.Thr33Pro) n.484A>C | |
7 | g.5603355A>G | CA366723566 | FSCN1 | c.931A>G (p.Thr311Ala) c.97A>G (p.Thr33Ala) n.484A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603355A>T | CA366723569 | FSCN1 | c.931A>T (p.Thr311Ser) c.97A>T (p.Thr33Ser) n.484A>T | |
7 | g.5603356C>A | CA366723574 | FSCN1 | c.932C>A (p.Thr311Lys) c.98C>A (p.Thr33Lys) n.485C>A | |
7 | g.5603356C= | CA1685036888 | FSCN1 | c.932C= (p.Thr311=) c.98C= (p.Thr33=) n.485C= | |
7 | g.5603356C>G | CA366723577 | FSCN1 | c.932C>G (p.Thr311Arg) c.98C>G (p.Thr33Arg) n.485C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603356C>T | CA4147463 | FSCN1 | c.932C>T (p.Thr311Met) c.98C>T (p.Thr33Met) n.485C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603357G>A | CA453639915 | FSCN1 | c.933G>A (p.Thr311=) c.99G>A (p.Thr33=) n.486G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603357G>C | CA453639917 | FSCN1 | c.933G>C (p.Thr311=) c.99G>C (p.Thr33=) n.486G>C | |
7 | g.5603357G= | CA1685036892 | FSCN1 | c.933G= (p.Thr311=) c.99G= (p.Thr33=) n.486G= | |
7 | g.5603357G>T | CA453639916 | FSCN1 | c.933G>T (p.Thr311=) c.99G>T (p.Thr33=) n.486G>T | |
7 | g.5603358G>A | CA366723583 | FSCN1 | c.934G>A (p.Gly312Ser) c.100G>A (p.Gly34Ser) n.487G>A | |
7 | g.5603358G>C | CA366723585 | FSCN1 | c.934G>C (p.Gly312Arg) c.100G>C (p.Gly34Arg) n.487G>C | |
7 | g.5603358G>T | CA366723587 | FSCN1 | c.934G>T (p.Gly312Cys) c.100G>T (p.Gly34Cys) n.487G>T | |
7 | g.5603359G>A | CA366723589 | FSCN1 | c.935G>A (p.Gly312Asp) c.101G>A (p.Gly34Asp) n.488G>A | |
7 | g.5603359G>C | CA366723590 | FSCN1 | c.935G>C (p.Gly312Ala) c.101G>C (p.Gly34Ala) n.488G>C | gnomAD v4 |
7 | g.5603359G= | CA1685036894 | FSCN1 | c.935G= (p.Gly312=) c.101G= (p.Gly34=) n.488G= | |
7 | g.5603359G>T | CA366723592 | FSCN1 | c.935G>T (p.Gly312Val) c.101G>T (p.Gly34Val) n.488G>T | dbSNP gnomAD v2 COSMIC |
7 | g.5603360C>A | CA453639918 | FSCN1 | c.936C>A (p.Gly312=) c.102C>A (p.Gly34=) n.489C>A | |
7 | g.5603360C= | CA1685036896 | FSCN1 | c.936C= (p.Gly312=) c.102C= (p.Gly34=) n.489C= | |
7 | g.5603360C>G | CA453639919 | FSCN1 | c.936C>G (p.Gly312=) c.102C>G (p.Gly34=) n.489C>G | |
7 | g.5603360C>T | CA453639920 | FSCN1 | c.936C>T (p.Gly312=) c.102C>T (p.Gly34=) n.489C>T | dbSNP gnomAD v2 |
7 | g.5603361A>C | CA366723595 | FSCN1 | c.937A>C (p.Lys313Gln) c.103A>C (p.Lys35Gln) n.490A>C | |
7 | g.5603361A>G | CA366723597 | FSCN1 | c.937A>G (p.Lys313Glu) c.103A>G (p.Lys35Glu) n.490A>G | gnomAD v4 |
7 | g.5603361A>T | CA366723600 | FSCN1 | c.937A>T (p.Lys313Ter) c.103A>T (p.Lys35Ter) n.490A>T | |
7 | g.5603362A>C | CA366723609 | FSCN1 | c.938A>C (p.Lys313Thr) c.104A>C (p.Lys35Thr) n.491A>C | |
7 | g.5603362A>G | CA366723606 | FSCN1 | c.938A>G (p.Lys313Arg) c.104A>G (p.Lys35Arg) n.491A>G | COSMIC |
7 | g.5603362A>T | CA366723603 | FSCN1 | c.938A>T (p.Lys313Met) c.104A>T (p.Lys35Met) n.491A>T | |
7 | g.5603363G>A | CA453639921 | FSCN1 | c.939G>A (p.Lys313=) c.105G>A (p.Lys35=) n.492G>A | |
7 | g.5603363G>C | CA4147464 | FSCN1 | c.939G>C (p.Lys313Asn) c.105G>C (p.Lys35Asn) n.492G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603363G= | CA1685036898 | FSCN1 | c.939G= (p.Lys313=) c.105G= (p.Lys35=) n.492G= | |
7 | g.5603363G>T | CA366723612 | FSCN1 | c.939G>T (p.Lys313Asn) c.105G>T (p.Lys35Asn) n.492G>T | |
7 | g.5603364T>A | CA366723614 | FSCN1 | c.940T>A (p.Tyr314Asn) c.106T>A (p.Tyr36Asn) n.493T>A | |
7 | g.5603364T>C | CA366723617 | FSCN1 | c.940T>C (p.Tyr314His) c.106T>C (p.Tyr36His) n.493T>C | |
7 | g.5603364T>G | CA366723620 | FSCN1 | c.940T>G (p.Tyr314Asp) c.106T>G (p.Tyr36Asp) n.493T>G | |
7 | g.5603365A>C | CA366723621 | FSCN1 | c.941A>C (p.Tyr314Ser) c.107A>C (p.Tyr36Ser) n.494A>C | |
7 | g.5603365A>G | CA366723623 | FSCN1 | c.941A>G (p.Tyr314Cys) c.107A>G (p.Tyr36Cys) n.494A>G | |
7 | g.5603365A>T | CA366723626 | FSCN1 | c.941A>T (p.Tyr314Phe) c.107A>T (p.Tyr36Phe) n.494A>T | |
7 | g.5603366C>A | CA366723628 | FSCN1 | c.942C>A (p.Tyr314Ter) c.108C>A (p.Tyr36Ter) n.495C>A | |
7 | g.5603366C>G | CA366723629 | FSCN1 | c.942C>G (p.Tyr314Ter) c.108C>G (p.Tyr36Ter) n.495C>G | |
7 | g.5603366C>T | CA453639922 | FSCN1 | c.942C>T (p.Tyr314=) c.108C>T (p.Tyr36=) n.495C>T | gnomAD v4 |
7 | g.5603367T>A | CA366723630 | FSCN1 | c.943T>A (p.Trp315Arg) c.109T>A (p.Trp37Arg) n.496T>A | |
7 | g.5603367T>C | CA366723632 | FSCN1 | c.943T>C (p.Trp315Arg) c.109T>C (p.Trp37Arg) n.496T>C | |
7 | g.5603367T>G | CA366723635 | FSCN1 | c.943T>G (p.Trp315Gly) c.109T>G (p.Trp37Gly) n.496T>G | |
7 | g.5603368G>A | CA366723642 | FSCN1 | c.944G>A (p.Trp315Ter) c.110G>A (p.Trp37Ter) n.497G>A | |
7 | g.5603368G>C | CA366723644 | FSCN1 | c.944G>C (p.Trp315Ser) c.110G>C (p.Trp37Ser) n.497G>C | |
7 | g.5603368G>T | CA366723639 | FSCN1 | c.944G>T (p.Trp315Leu) c.110G>T (p.Trp37Leu) n.497G>T | |
7 | g.5603369G>A | CA366723646 | FSCN1 | c.945G>A (p.Trp315Ter) c.111G>A (p.Trp37Ter) n.498G>A | |
7 | g.5603369G>C | CA366723651 | FSCN1 | c.945G>C (p.Trp315Cys) c.111G>C (p.Trp37Cys) n.498G>C | |
7 | g.5603369G>T | CA366723648 | FSCN1 | c.945G>T (p.Trp315Cys) c.111G>T (p.Trp37Cys) n.498G>T | |
7 | g.5603370A>C | CA366723653 | FSCN1 | c.946A>C (p.Thr316Pro) c.112A>C (p.Thr38Pro) n.499A>C | gnomAD v4 |
7 | g.5603370A>G | CA366723659 | FSCN1 | c.946A>G (p.Thr316Ala) c.112A>G (p.Thr38Ala) n.499A>G | |
7 | g.5603370A>T | CA366723656 | FSCN1 | c.946A>T (p.Thr316Ser) c.112A>T (p.Thr38Ser) n.499A>T | |
7 | g.5603371C>A | CA366723662 | FSCN1 | c.947C>A (p.Thr316Lys) c.113C>A (p.Thr38Lys) n.500C>A | |
7 | g.5603371C= | CA1685036899 | FSCN1 | c.947C= (p.Thr316=) c.113C= (p.Thr38=) n.500C= | |
7 | g.5603371C>G | CA366723665 | FSCN1 | c.947C>G (p.Thr316Arg) c.113C>G (p.Thr38Arg) n.500C>G | |
7 | g.5603371C>T | CA4147465 | FSCN1 | c.947C>T (p.Thr316Met) c.113C>T (p.Thr38Met) n.500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.5603372G>A | CA4147466 | FSCN1 | c.948G>A (p.Thr316=) c.114G>A (p.Thr38=) n.501G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603372G>C | CA453639923 | FSCN1 | c.948G>C (p.Thr316=) c.114G>C (p.Thr38=) n.501G>C | |
7 | g.5603372G= | CA1685036903 | FSCN1 | c.948G= (p.Thr316=) c.114G= (p.Thr38=) n.501G= | |
7 | g.5603372G>T | CA453639924 | FSCN1 | c.948G>T (p.Thr316=) c.114G>T (p.Thr38=) n.501G>T | |
7 | g.5603373C>A | CA366723671 | FSCN1 | c.949C>A (p.Leu317Met) c.115C>A (p.Leu39Met) n.502C>A | |
7 | g.5603373C>G | CA366723673 | FSCN1 | c.949C>G (p.Leu317Val) c.115C>G (p.Leu39Val) n.502C>G | |
7 | g.5603373C>T | CA453639925 | FSCN1 | c.949C>T (p.Leu317=) c.115C>T (p.Leu39=) n.502C>T | |
7 | g.5603374T>A | CA366723679 | FSCN1 | c.950T>A (p.Leu317Gln) c.116T>A (p.Leu39Gln) n.503T>A | COSMIC |
7 | g.5603374T>C | CA366723683 | FSCN1 | c.950T>C (p.Leu317Pro) c.116T>C (p.Leu39Pro) n.503T>C | dbSNP gnomAD v4 |
7 | g.5603374T>G | CA366723685 | FSCN1 | c.950T>G (p.Leu317Arg) c.116T>G (p.Leu39Arg) n.503T>G | |
7 | g.5603374T= | CA1685036906 | FSCN1 | c.950T= (p.Leu317=) c.116T= (p.Leu39=) n.503T= | |
7 | g.5603375G>A | CA453639926 | FSCN1 | c.951G>A (p.Leu317=) c.117G>A (p.Leu39=) n.504G>A | |
7 | g.5603375G>C | CA453639927 | FSCN1 | c.951G>C (p.Leu317=) c.117G>C (p.Leu39=) n.504G>C | |
7 | g.5603375G>T | CA453639928 | FSCN1 | c.951G>T (p.Leu317=) c.117G>T (p.Leu39=) n.504G>T | |
7 | g.5603376A>C | CA366723690 | FSCN1 | c.952A>C (p.Thr318Pro) c.118A>C (p.Thr40Pro) n.505A>C | |
7 | g.5603376A>G | CA366723693 | FSCN1 | c.952A>G (p.Thr318Ala) c.118A>G (p.Thr40Ala) n.505A>G | |
7 | g.5603376A>T | CA366723696 | FSCN1 | c.952A>T (p.Thr318Ser) c.118A>T (p.Thr40Ser) n.505A>T | |
7 | g.5603377C>A | CA366723713 | FSCN1 | c.953C>A (p.Thr318Lys) c.119C>A (p.Thr40Lys) n.506C>A | |
7 | g.5603377C= | CA1685036911 | FSCN1 | c.953C= (p.Thr318=) c.119C= (p.Thr40=) n.506C= | |
7 | g.5603377C>G | CA366723707 | FSCN1 | c.953C>G (p.Thr318Arg) c.119C>G (p.Thr40Arg) n.506C>G | |
7 | g.5603377C>T | CA4147467 | FSCN1 | c.953C>T (p.Thr318Met) c.119C>T (p.Thr40Met) n.506C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603378G>A | CA4147468 | FSCN1 | c.954G>A (p.Thr318=) c.120G>A (p.Thr40=) n.507G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603378G>C | CA453639929 | FSCN1 | c.954G>C (p.Thr318=) c.120G>C (p.Thr40=) n.507G>C | |
7 | g.5603378G= | CA1685036914 | FSCN1 | c.954G= (p.Thr318=) c.120G= (p.Thr40=) n.507G= | |
7 | g.5603378G>T | CA453639930 | FSCN1 | c.954G>T (p.Thr318=) c.120G>T (p.Thr40=) n.507G>T | dbSNP gnomAD v4 |
7 | g.5603379G>A | CA366723722 | FSCN1 | c.955G>A (p.Ala319Thr) c.121G>A (p.Ala41Thr) n.508G>A | |
7 | g.5603379G>C | CA366723724 | FSCN1 | c.955G>C (p.Ala319Pro) c.121G>C (p.Ala41Pro) n.508G>C | |
7 | g.5603379G>T | CA366723726 | FSCN1 | c.955G>T (p.Ala319Ser) c.121G>T (p.Ala41Ser) n.508G>T | |
7 | g.5603380C>A | CA366723730 | FSCN1 | c.956C>A (p.Ala319Asp) c.122C>A (p.Ala41Asp) n.509C>A | |
7 | g.5603380C>G | CA366723734 | FSCN1 | c.956C>G (p.Ala319Gly) c.122C>G (p.Ala41Gly) n.509C>G | |
7 | g.5603380C>T | CA366723737 | FSCN1 | c.956C>T (p.Ala319Val) c.122C>T (p.Ala41Val) n.509C>T | |
7 | g.5603381C>A | CA453639931 | FSCN1 | c.957C>A (p.Ala319=) c.123C>A (p.Ala41=) n.510C>A | |
7 | g.5603381C>G | CA453639932 | FSCN1 | c.957C>G (p.Ala319=) c.123C>G (p.Ala41=) n.510C>G | |
7 | g.5603381C>T | CA453639933 | FSCN1 | c.957C>T (p.Ala319=) c.123C>T (p.Ala41=) n.510C>T | |
7 | g.5603382A>C | CA366723742 | FSCN1 | c.958A>C (p.Thr320Pro) c.124A>C (p.Thr42Pro) n.511A>C | |
7 | g.5603382A>G | CA366723745 | FSCN1 | c.958A>G (p.Thr320Ala) c.124A>G (p.Thr42Ala) n.511A>G | |
7 | g.5603382A>T | CA366723748 | FSCN1 | c.958A>T (p.Thr320Ser) c.124A>T (p.Thr42Ser) n.511A>T | |
7 | g.5603383C>A | CA366723756 | FSCN1 | c.959C>A (p.Thr320Asn) c.125C>A (p.Thr42Asn) n.512C>A | |
7 | g.5603383C>G | CA366723755 | FSCN1 | c.959C>G (p.Thr320Ser) c.125C>G (p.Thr42Ser) n.512C>G | |
7 | g.5603383C>T | CA366723753 | FSCN1 | c.959C>T (p.Thr320Ile) c.125C>T (p.Thr42Ile) n.512C>T | |
7 | g.5603384C>A | CA453639937 | FSCN1 | c.960C>A (p.Thr320=) c.126C>A (p.Thr42=) n.513C>A | |
7 | g.5603384C= | CA1685036922 | FSCN1 | c.960C= (p.Thr320=) c.126C= (p.Thr42=) n.513C= | |
7 | g.5603384C>G | CA453639938 | FSCN1 | c.960C>G (p.Thr320=) c.126C>G (p.Thr42=) n.513C>G | |
7 | g.5603384C>T | CA4147469 | FSCN1 | c.960C>T (p.Thr320=) c.126C>T (p.Thr42=) n.513C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603385G>A | CA366723762 | FSCN1 | c.961G>A (p.Gly321Arg) c.127G>A (p.Gly43Arg) n.514G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.5603385G>C | CA366723764 | FSCN1 | c.961G>C (p.Gly321Arg) c.127G>C (p.Gly43Arg) n.514G>C | |
7 | g.5603385G= | CA1685036925 | FSCN1 | c.961G= (p.Gly321=) c.127G= (p.Gly43=) n.514G= | |
7 | g.5603385G>T | CA366723767 | FSCN1 | c.961G>T (p.Gly321Trp) c.127G>T (p.Gly43Trp) n.514G>T | |
7 | g.5603389del | CA2681654514 | FSCN1 | c.965del (p.Gly322AlafsTer26) c.131del (p.Gly44AlafsTer26) n.518del | gnomAD v4 |
7 | g.5603386G>A | CA366723769 | FSCN1 | c.962G>A (p.Gly321Glu) c.128G>A (p.Gly43Glu) n.515G>A | |
7 | g.5603386G>C | CA366723771 | FSCN1 | c.962G>C (p.Gly321Ala) c.128G>C (p.Gly43Ala) n.515G>C | |
7 | g.5603386G>T | CA366723773 | FSCN1 | c.962G>T (p.Gly321Val) c.128G>T (p.Gly43Val) n.515G>T |