Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5603286_5603288delCA2681654513FSCN1c.862_864del (p.Glu288del)
c.28_30del (p.Glu10del)
n.415_417del
gnomAD v4
7g.5603283_5603295delinsGAGGAGACCGACCCA1685036725FSCN1c.859_871delinsGAGGAGACCGACC (p.Glu287=)
c.25_37delinsGAGGAGACCGACC (p.Glu9=)
n.412_424delinsGAGGAGACCGACC
7g.5603292_5603303delCA4147446FSCN1c.868_879del (p.Asp290_Thr293del)
c.34_45del (p.Asp12_Thr15del)
n.421_432del
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603286G>ACA366723057FSCN1c.862G>A (p.Glu288Lys)
c.28G>A (p.Glu10Lys)
n.415G>A
7g.5603286G>CCA366723059FSCN1c.862G>C (p.Glu288Gln)
c.28G>C (p.Glu10Gln)
n.415G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603286G=CA1685036744FSCN1c.862G= (p.Glu288=)
c.28G= (p.Glu10=)
n.415G=
7g.5603286G>TCA366723061FSCN1c.862G>T (p.Glu288Ter)
c.28G>T (p.Glu10Ter)
n.415G>T
7g.5603287A>CCA366723064FSCN1c.863A>C (p.Glu288Ala)
c.29A>C (p.Glu10Ala)
n.416A>C
7g.5603287A>GCA366723065FSCN1c.863A>G (p.Glu288Gly)
c.29A>G (p.Glu10Gly)
n.416A>G
7g.5603287A>TCA366723067FSCN1c.863A>T (p.Glu288Val)
c.29A>T (p.Glu10Val)
n.416A>T
7g.5603288G>ACA453639880FSCN1c.864G>A (p.Glu288=)
c.30G>A (p.Glu10=)
n.417G>A
7g.5603288G>CCA366723069FSCN1c.864G>C (p.Glu288Asp)
c.30G>C (p.Glu10Asp)
n.417G>C
dbSNP
7g.5603288G=CA1685036749FSCN1c.864G= (p.Glu288=)
c.30G= (p.Glu10=)
n.417G=
7g.5603288G>TCA366723070FSCN1c.864G>T (p.Glu288Asp)
c.30G>T (p.Glu10Asp)
n.417G>T
7g.5603289A=CA1685036752FSCN1c.865A= (p.Thr289=)
c.31A= (p.Thr11=)
n.418A=
7g.5603289A>CCA366723072FSCN1c.865A>C (p.Thr289Pro)
c.31A>C (p.Thr11Pro)
n.418A>C
7g.5603289A>GCA153233511FSCN1c.865A>G (p.Thr289Ala)
c.31A>G (p.Thr11Ala)
n.418A>G
dbSNP
7g.5603289A>TCA366723074FSCN1c.865A>T (p.Thr289Ser)
c.31A>T (p.Thr11Ser)
n.418A>T
7g.5603290C>ACA366723080FSCN1c.866C>A (p.Thr289Asn)
c.32C>A (p.Thr11Asn)
n.419C>A
7g.5603290C>GCA366723076FSCN1c.866C>G (p.Thr289Ser)
c.32C>G (p.Thr11Ser)
n.419C>G
7g.5603290C>TCA366723078FSCN1c.866C>T (p.Thr289Ile)
c.32C>T (p.Thr11Ile)
n.419C>T
gnomAD v4
7g.5603291C>ACA453639882FSCN1c.867C>A (p.Thr289=)
c.33C>A (p.Thr11=)
n.420C>A
7g.5603291C=CA1685036754FSCN1c.867C= (p.Thr289=)
c.33C= (p.Thr11=)
n.420C=
7g.5603291C>GCA453639883FSCN1c.867C>G (p.Thr289=)
c.33C>G (p.Thr11=)
n.420C>G
gnomAD v4
7g.5603291C>TCA453639884FSCN1c.867C>T (p.Thr289=)
c.33C>T (p.Thr11=)
n.420C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603292G>ACA4147448FSCN1c.868G>A (p.Asp290Asn)
c.34G>A (p.Asp12Asn)
n.421G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603292G>CCA366723083FSCN1c.868G>C (p.Asp290His)
c.34G>C (p.Asp12His)
n.421G>C
7g.5603292G=CA1685036756FSCN1c.868G= (p.Asp290=)
c.34G= (p.Asp12=)
n.421G=
7g.5603292G>TCA366723085FSCN1c.868G>T (p.Asp290Tyr)
c.34G>T (p.Asp12Tyr)
n.421G>T
gnomAD v4
7g.5603293A>CCA366723086FSCN1c.869A>C (p.Asp290Ala)
c.35A>C (p.Asp12Ala)
n.422A>C
7g.5603293A>GCA366723087FSCN1c.869A>G (p.Asp290Gly)
c.35A>G (p.Asp12Gly)
n.422A>G
7g.5603293A>TCA366723089FSCN1c.869A>T (p.Asp290Val)
c.35A>T (p.Asp12Val)
n.422A>T
7g.5603294C>ACA366723091FSCN1c.870C>A (p.Asp290Glu)
c.36C>A (p.Asp12Glu)
n.423C>A
7g.5603294C>GCA366723093FSCN1c.870C>G (p.Asp290Glu)
c.36C>G (p.Asp12Glu)
n.423C>G
7g.5603294C>TCA453639887FSCN1c.870C>T (p.Asp290=)
c.36C>T (p.Asp12=)
n.423C>T
7g.5603295C>ACA366723095FSCN1c.871C>A (p.Gln291Lys)
c.37C>A (p.Gln13Lys)
n.424C>A
dbSNP gnomAD v3 gnomAD v4
7g.5603295C=CA1685036761FSCN1c.871C= (p.Gln291=)
c.37C= (p.Gln13=)
n.424C=
7g.5603295C>GCA366723097FSCN1c.871C>G (p.Gln291Glu)
c.37C>G (p.Gln13Glu)
n.424C>G
7g.5603295C>TCA366723100FSCN1c.871C>T (p.Gln291Ter)
c.37C>T (p.Gln13Ter)
n.424C>T
7g.5603296A=CA1685036765FSCN1c.872A= (p.Gln291=)
c.38A= (p.Gln13=)
n.425A=
7g.5603296A>CCA366723104FSCN1c.872A>C (p.Gln291Pro)
c.38A>C (p.Gln13Pro)
n.425A>C
7g.5603296A>GCA366723107FSCN1c.872A>G (p.Gln291Arg)
c.38A>G (p.Gln13Arg)
n.425A>G
7g.5603296A>TCA366723111FSCN1c.872A>T (p.Gln291Leu)
c.38A>T (p.Gln13Leu)
n.425A>T
dbSNP gnomAD v3 gnomAD v4
7g.5603297G>ACA453639888FSCN1c.873G>A (p.Gln291=)
c.39G>A (p.Gln13=)
n.426G>A
7g.5603297G>CCA366723117FSCN1c.873G>C (p.Gln291His)
c.39G>C (p.Gln13His)
n.426G>C
7g.5603297G>TCA366723115FSCN1c.873G>T (p.Gln291His)
c.39G>T (p.Gln13His)
n.426G>T
7g.5603298G>ACA366723120FSCN1c.874G>A (p.Glu292Lys)
c.40G>A (p.Glu14Lys)
n.427G>A
dbSNP gnomAD v3 gnomAD v4
7g.5603298G>CCA366723123FSCN1c.874G>C (p.Glu292Gln)
c.40G>C (p.Glu14Gln)
n.427G>C
7g.5603298G=CA1685036768FSCN1c.874G= (p.Glu292=)
c.40G= (p.Glu14=)
n.427G=
7g.5603298G>TCA366723126FSCN1c.874G>T (p.Glu292Ter)
c.40G>T (p.Glu14Ter)
n.427G>T
7g.5603299A>CCA366723131FSCN1c.875A>C (p.Glu292Ala)
c.41A>C (p.Glu14Ala)
n.428A>C
7g.5603299A>GCA366723136FSCN1c.875A>G (p.Glu292Gly)
c.41A>G (p.Glu14Gly)
n.428A>G
7g.5603299A>TCA366723137FSCN1c.875A>T (p.Glu292Val)
c.41A>T (p.Glu14Val)
n.428A>T
7g.5603300G>ACA453639890FSCN1c.876G>A (p.Glu292=)
c.42G>A (p.Glu14=)
n.429G>A
7g.5603300G>CCA366723146FSCN1c.876G>C (p.Glu292Asp)
c.42G>C (p.Glu14Asp)
n.429G>C
gnomAD v4
7g.5603300G>TCA366723142FSCN1c.876G>T (p.Glu292Asp)
c.42G>T (p.Glu14Asp)
n.429G>T
7g.5603301A=CA1685036770FSCN1c.877A= (p.Thr293=)
c.43A= (p.Thr15=)
n.430A=
7g.5603301A>CCA366723149FSCN1c.877A>C (p.Thr293Pro)
c.43A>C (p.Thr15Pro)
n.430A>C
dbSNP
7g.5603301A>GCA366723152FSCN1c.877A>G (p.Thr293Ala)
c.43A>G (p.Thr15Ala)
n.430A>G
gnomAD v4
7g.5603301A>TCA366723154FSCN1c.877A>T (p.Thr293Ser)
c.43A>T (p.Thr15Ser)
n.430A>T
7g.5603302C>ACA366723160FSCN1c.878C>A (p.Thr293Asn)
c.44C>A (p.Thr15Asn)
n.431C>A
7g.5603302C=CA1685036777FSCN1c.878C= (p.Thr293=)
c.44C= (p.Thr15=)
n.431C=
7g.5603302C>GCA366723164FSCN1c.878C>G (p.Thr293Ser)
c.44C>G (p.Thr15Ser)
n.431C>G
gnomAD v4
7g.5603302C>TCA366723167FSCN1c.878C>T (p.Thr293Ile)
c.44C>T (p.Thr15Ile)
n.431C>T
dbSNP gnomAD v3 gnomAD v4
7g.5603303C>ACA453639891FSCN1c.879C>A (p.Thr293=)
c.45C>A (p.Thr15=)
n.432C>A
dbSNP gnomAD v4
7g.5603303C=CA1685036779FSCN1c.879C= (p.Thr293=)
c.45C= (p.Thr15=)
n.432C=
7g.5603303C>GCA453639892FSCN1c.879C>G (p.Thr293=)
c.45C>G (p.Thr15=)
n.432C>G
7g.5603303C>TCA453639893FSCN1c.879C>T (p.Thr293=)
c.45C>T (p.Thr15=)
n.432C>T
dbSNP gnomAD v4
7g.5603304T>ACA366723172FSCN1c.880T>A (p.Phe294Ile)
c.46T>A (p.Phe16Ile)
n.433T>A
7g.5603304T>CCA366723179FSCN1c.880T>C (p.Phe294Leu)
c.46T>C (p.Phe16Leu)
n.433T>C
7g.5603304T>GCA366723175FSCN1c.880T>G (p.Phe294Val)
c.46T>G (p.Phe16Val)
n.433T>G
7g.5603305T>ACA366723184FSCN1c.881T>A (p.Phe294Tyr)
c.47T>A (p.Phe16Tyr)
n.434T>A
7g.5603305T>CCA366723188FSCN1c.881T>C (p.Phe294Ser)
c.47T>C (p.Phe16Ser)
n.434T>C
7g.5603305T>GCA366723191FSCN1c.881T>G (p.Phe294Cys)
c.47T>G (p.Phe16Cys)
n.434T>G
7g.5603306C>ACA366723196FSCN1c.882C>A (p.Phe294Leu)
c.48C>A (p.Phe16Leu)
n.435C>A
gnomAD v4
7g.5603306C>GCA366723205FSCN1c.882C>G (p.Phe294Leu)
c.48C>G (p.Phe16Leu)
n.435C>G
7g.5603306C>TCA453639897FSCN1c.882C>T (p.Phe294=)
c.48C>T (p.Phe16=)
n.435C>T
7g.5603307C>ACA366723210FSCN1c.883C>A (p.Gln295Lys)
c.49C>A (p.Gln17Lys)
n.436C>A
7g.5603307C>GCA366723215FSCN1c.883C>G (p.Gln295Glu)
c.49C>G (p.Gln17Glu)
n.436C>G
7g.5603307C>TCA366723218FSCN1c.883C>T (p.Gln295Ter)
c.49C>T (p.Gln17Ter)
n.436C>T
gnomAD v4
7g.5603308A>CCA366723221FSCN1c.884A>C (p.Gln295Pro)
c.50A>C (p.Gln17Pro)
n.437A>C
7g.5603308A>GCA366723224FSCN1c.884A>G (p.Gln295Arg)
c.50A>G (p.Gln17Arg)
n.437A>G
7g.5603308A>TCA366723228FSCN1c.884A>T (p.Gln295Leu)
c.50A>T (p.Gln17Leu)
n.437A>T
7g.5603309G>ACA453639898FSCN1c.885G>A (p.Gln295=)
c.51G>A (p.Gln17=)
n.438G>A
7g.5603309G>CCA366723232FSCN1c.885G>C (p.Gln295His)
c.51G>C (p.Gln17His)
n.438G>C
7g.5603309G>TCA366723234FSCN1c.885G>T (p.Gln295His)
c.51G>T (p.Gln17His)
n.438G>T
7g.5603310C>ACA366723245FSCN1c.886C>A (p.Leu296Met)
c.52C>A (p.Leu18Met)
n.439C>A
7g.5603310C=CA1685036782FSCN1c.886C= (p.Leu296=)
c.52C= (p.Leu18=)
n.439C=
7g.5603310C>GCA366723240FSCN1c.886C>G (p.Leu296Val)
c.52C>G (p.Leu18Val)
n.439C>G
7g.5603310C>TCA453639899FSCN1c.886C>T (p.Leu296=)
c.52C>T (p.Leu18=)
n.439C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603311T>ACA366723249FSCN1c.887T>A (p.Leu296Gln)
c.53T>A (p.Leu18Gln)
n.440T>A
7g.5603311T>CCA366723253FSCN1c.887T>C (p.Leu296Pro)
c.53T>C (p.Leu18Pro)
n.440T>C
7g.5603311T>GCA366723256FSCN1c.887T>G (p.Leu296Arg)
c.53T>G (p.Leu18Arg)
n.440T>G
7g.5603312G>ACA453639901FSCN1c.888G>A (p.Leu296=)
c.54G>A (p.Leu18=)
n.441G>A
7g.5603312G>CCA453639902FSCN1c.888G>C (p.Leu296=)
c.54G>C (p.Leu18=)
n.441G>C
7g.5603312G>TCA453639903FSCN1c.888G>T (p.Leu296=)
c.54G>T (p.Leu18=)
n.441G>T
7g.5603313G>ACA366723258FSCN1c.889G>A (p.Glu297Lys)
c.55G>A (p.Glu19Lys)
n.442G>A
7g.5603313G>CCA366723262FSCN1c.889G>C (p.Glu297Gln)
c.55G>C (p.Glu19Gln)
n.442G>C
7g.5603313G>TCA366723265FSCN1c.889G>T (p.Glu297Ter)
c.55G>T (p.Glu19Ter)
n.442G>T
7g.5603314A=CA1685036790FSCN1c.890A= (p.Glu297=)
c.56A= (p.Glu19=)
n.443A=
7g.5603314A>CCA366723267FSCN1c.890A>C (p.Glu297Ala)
c.56A>C (p.Glu19Ala)
n.443A>C
7g.5603314A>GCA366723270FSCN1c.890A>G (p.Glu297Gly)
c.56A>G (p.Glu19Gly)
n.443A>G
dbSNP gnomAD v4
7g.5603314A>TCA366723273FSCN1c.890A>T (p.Glu297Val)
c.56A>T (p.Glu19Val)
n.443A>T
7g.5603315G>ACA4147449FSCN1c.891G>A (p.Glu297=)
c.57G>A (p.Glu19=)
n.444G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603315G>CCA366723281FSCN1c.891G>C (p.Glu297Asp)
c.57G>C (p.Glu19Asp)
n.444G>C
dbSNP
7g.5603315G=CA1685036795FSCN1c.891G= (p.Glu297=)
c.57G= (p.Glu19=)
n.444G=
7g.5603315G>TCA366723283FSCN1c.891G>T (p.Glu297Asp)
c.57G>T (p.Glu19Asp)
n.444G>T
7g.5603316A>CCA366723287FSCN1c.892A>C (p.Ile298Leu)
c.58A>C (p.Ile20Leu)
n.445A>C
7g.5603316A>GCA366723295FSCN1c.892A>G (p.Ile298Val)
c.58A>G (p.Ile20Val)
n.445A>G
7g.5603316A>TCA366723291FSCN1c.892A>T (p.Ile298Phe)
c.58A>T (p.Ile20Phe)
n.445A>T
7g.5603317T>ACA366723300FSCN1c.893T>A (p.Ile298Asn)
c.59T>A (p.Ile20Asn)
n.446T>A
7g.5603317T>CCA366723303FSCN1c.893T>C (p.Ile298Thr)
c.59T>C (p.Ile20Thr)
n.446T>C
7g.5603317T>GCA366723305FSCN1c.893T>G (p.Ile298Ser)
c.59T>G (p.Ile20Ser)
n.446T>G
7g.5603318C>ACA453639879FSCN1c.894C>A (p.Ile298=)
c.60C>A (p.Ile20=)
n.447C>A
dbSNP gnomAD v3 gnomAD v4
7g.5603318C=CA1685036805FSCN1c.894C= (p.Ile298=)
c.60C= (p.Ile20=)
n.447C=
7g.5603318C>GCA366723310FSCN1c.894C>G (p.Ile298Met)
c.60C>G (p.Ile20Met)
n.447C>G
gnomAD v4
7g.5603318C>TCA4147450FSCN1c.894C>T (p.Ile298=)
c.60C>T (p.Ile20=)
n.447C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.5603319G>ACA4147451FSCN1c.895G>A (p.Asp299Asn)
c.61G>A (p.Asp21Asn)
n.448G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603319G>CCA366723319FSCN1c.895G>C (p.Asp299His)
c.61G>C (p.Asp21His)
n.448G>C
7g.5603319G=CA1685036809FSCN1c.895G= (p.Asp299=)
c.61G= (p.Asp21=)
n.448G=
7g.5603319G>TCA366723322FSCN1c.895G>T (p.Asp299Tyr)
c.61G>T (p.Asp21Tyr)
n.448G>T
gnomAD v4
7g.5603320A=CA1685036812FSCN1c.896A= (p.Asp299=)
c.62A= (p.Asp21=)
n.449A=
7g.5603320A>CCA366723326FSCN1c.896A>C (p.Asp299Ala)
c.62A>C (p.Asp21Ala)
n.449A>C
7g.5603320A>GCA366723333FSCN1c.896A>G (p.Asp299Gly)
c.62A>G (p.Asp21Gly)
n.449A>G
dbSNP gnomAD v2 gnomAD v4
7g.5603320A>TCA366723330FSCN1c.896A>T (p.Asp299Val)
c.62A>T (p.Asp21Val)
n.449A>T
dbSNP
7g.5603321C>ACA366723336FSCN1c.897C>A (p.Asp299Glu)
c.63C>A (p.Asp21Glu)
n.450C>A
7g.5603321C>GCA366723339FSCN1c.897C>G (p.Asp299Glu)
c.63C>G (p.Asp21Glu)
n.450C>G
7g.5603321C>TCA453639881FSCN1c.897C>T (p.Asp299=)
c.63C>T (p.Asp21=)
n.450C>T
7g.5603322C>ACA366723343FSCN1c.898C>A (p.Arg300Ser)
c.64C>A (p.Arg22Ser)
n.451C>A
7g.5603322C=CA1685036819FSCN1c.898C= (p.Arg300=)
c.64C= (p.Arg22=)
n.451C=
7g.5603322C>GCA4147453FSCN1c.898C>G (p.Arg300Gly)
c.64C>G (p.Arg22Gly)
n.451C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603322C>TCA4147452FSCN1c.898C>T (p.Arg300Cys)
c.64C>T (p.Arg22Cys)
n.451C>T
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603323G>ACA4147454FSCN1c.899G>A (p.Arg300His)
c.65G>A (p.Arg22His)
n.452G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603323G>CCA366723349FSCN1c.899G>C (p.Arg300Pro)
c.65G>C (p.Arg22Pro)
n.452G>C
7g.5603323G=CA1685036824FSCN1c.899G= (p.Arg300=)
c.65G= (p.Arg22=)
n.452G=
7g.5603323G>TCA366723346FSCN1c.899G>T (p.Arg300Leu)
c.65G>T (p.Arg22Leu)
n.452G>T
gnomAD v4
7g.5603324C>ACA453639885FSCN1c.900C>A (p.Arg300=)
c.66C>A (p.Arg22=)
n.453C>A
gnomAD v4
7g.5603324C=CA1685036832FSCN1c.900C= (p.Arg300=)
c.66C= (p.Arg22=)
n.453C=
7g.5603324C>GCA453639886FSCN1c.900C>G (p.Arg300=)
c.66C>G (p.Arg22=)
n.453C>G
7g.5603324C>TCA4147455FSCN1c.900C>T (p.Arg300=)
c.66C>T (p.Arg22=)
n.453C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603325G>ACA366723354FSCN1c.901G>A (p.Asp301Asn)
c.67G>A (p.Asp23Asn)
n.454G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603325G>CCA366723356FSCN1c.901G>C (p.Asp301His)
c.67G>C (p.Asp23His)
n.454G>C
7g.5603325G=CA1685036839FSCN1c.901G= (p.Asp301=)
c.67G= (p.Asp23=)
n.454G=
7g.5603325G>TCA366723358FSCN1c.901G>T (p.Asp301Tyr)
c.67G>T (p.Asp23Tyr)
n.454G>T
7g.5603326A>CCA366723361FSCN1c.902A>C (p.Asp301Ala)
c.68A>C (p.Asp23Ala)
n.455A>C
7g.5603326A>GCA366723364FSCN1c.902A>G (p.Asp301Gly)
c.68A>G (p.Asp23Gly)
n.455A>G
7g.5603326A>TCA366723367FSCN1c.902A>T (p.Asp301Val)
c.68A>T (p.Asp23Val)
n.455A>T
7g.5603327C>ACA366723370FSCN1c.903C>A (p.Asp301Glu)
c.69C>A (p.Asp23Glu)
n.456C>A
7g.5603327C>GCA366723373FSCN1c.903C>G (p.Asp301Glu)
c.69C>G (p.Asp23Glu)
n.456C>G
7g.5603327C>TCA453639889FSCN1c.903C>T (p.Asp301=)
c.69C>T (p.Asp23=)
n.456C>T
7g.5603328A>CCA366723376FSCN1c.904A>C (p.Thr302Pro)
c.70A>C (p.Thr24Pro)
n.457A>C
7g.5603328A>GCA366723378FSCN1c.904A>G (p.Thr302Ala)
c.70A>G (p.Thr24Ala)
n.457A>G
7g.5603328A>TCA366723380FSCN1c.904A>T (p.Thr302Ser)
c.70A>T (p.Thr24Ser)
n.457A>T
7g.5603329C>ACA366723383FSCN1c.905C>A (p.Thr302Asn)
c.71C>A (p.Thr24Asn)
n.458C>A
gnomAD v4
7g.5603329C>GCA366723387FSCN1c.905C>G (p.Thr302Ser)
c.71C>G (p.Thr24Ser)
n.458C>G
7g.5603329C>TCA366723385FSCN1c.905C>T (p.Thr302Ile)
c.71C>T (p.Thr24Ile)
n.458C>T
COSMIC
7g.5603330C>ACA453639894FSCN1c.906C>A (p.Thr302=)
c.72C>A (p.Thr24=)
n.459C>A
7g.5603330C>GCA453639895FSCN1c.906C>G (p.Thr302=)
c.72C>G (p.Thr24=)
n.459C>G
7g.5603330C>TCA453639896FSCN1c.906C>T (p.Thr302=)
c.72C>T (p.Thr24=)
n.459C>T
7g.5603331A=CA1685036842FSCN1c.907A= (p.Lys303=)
c.73A= (p.Lys25=)
n.460A=
7g.5603331A>CCA366723388FSCN1c.907A>C (p.Lys303Gln)
c.73A>C (p.Lys25Gln)
n.460A>C
7g.5603331A>GCA366723389FSCN1c.907A>G (p.Lys303Glu)
c.73A>G (p.Lys25Glu)
n.460A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603331A>TCA366723391FSCN1c.907A>T (p.Lys303Ter)
c.73A>T (p.Lys25Ter)
n.460A>T
dbSNP
7g.5603332A=CA1685036847FSCN1c.908A= (p.Lys303=)
c.74A= (p.Lys25=)
n.461A=
7g.5603332A>CCA366723395FSCN1c.908A>C (p.Lys303Thr)
c.74A>C (p.Lys25Thr)
n.461A>C
7g.5603332A>GCA4147456FSCN1c.908A>G (p.Lys303Arg)
c.74A>G (p.Lys25Arg)
n.461A>G
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603332A>TCA366723398FSCN1c.908A>T (p.Lys303Ile)
c.74A>T (p.Lys25Ile)
n.461A>T
7g.5603333A=CA1685036852FSCN1c.909A= (p.Lys303=)
c.75A= (p.Lys25=)
n.462A=
7g.5603333A>CCA366723402FSCN1c.909A>C (p.Lys303Asn)
c.75A>C (p.Lys25Asn)
n.462A>C
7g.5603333A>GCA4147457FSCN1c.909A>G (p.Lys303=)
c.75A>G (p.Lys25=)
n.462A>G
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603333A>TCA366723405FSCN1c.909A>T (p.Lys303Asn)
c.75A>T (p.Lys25Asn)
n.462A>T
7g.5603334A>CCA366723408FSCN1c.910A>C (p.Lys304Gln)
c.76A>C (p.Lys26Gln)
n.463A>C
7g.5603334A>GCA366723410FSCN1c.910A>G (p.Lys304Glu)
c.76A>G (p.Lys26Glu)
n.463A>G
gnomAD v4
7g.5603334A>TCA366723417FSCN1c.910A>T (p.Lys304Ter)
c.76A>T (p.Lys26Ter)
n.463A>T
7g.5603335A=CA1685036856FSCN1c.911A= (p.Lys304=)
c.77A= (p.Lys26=)
n.464A=
7g.5603335A>CCA366723426FSCN1c.911A>C (p.Lys304Thr)
c.77A>C (p.Lys26Thr)
n.464A>C
7g.5603335A>GCA366723428FSCN1c.911A>G (p.Lys304Arg)
c.77A>G (p.Lys26Arg)
n.464A>G
7g.5603335A>TCA4147458FSCN1c.911A>T (p.Lys304Met)
c.77A>T (p.Lys26Met)
n.464A>T
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603336G>ACA453639900FSCN1c.912G>A (p.Lys304=)
c.78G>A (p.Lys26=)
n.465G>A
dbSNP gnomAD v2
7g.5603336G>CCA366723433FSCN1c.912G>C (p.Lys304Asn)
c.78G>C (p.Lys26Asn)
n.465G>C
7g.5603336G=CA1685036861FSCN1c.912G= (p.Lys304=)
c.78G= (p.Lys26=)
n.465G=
7g.5603336G>TCA4147459FSCN1c.912G>T (p.Lys304Asn)
c.78G>T (p.Lys26Asn)
n.465G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603337T>ACA366723440FSCN1c.913T>A (p.Cys305Ser)
c.79T>A (p.Cys27Ser)
n.466T>A
7g.5603337T>CCA366723442FSCN1c.913T>C (p.Cys305Arg)
c.79T>C (p.Cys27Arg)
n.466T>C
7g.5603337T>GCA366723445FSCN1c.913T>G (p.Cys305Gly)
c.79T>G (p.Cys27Gly)
n.466T>G
7g.5603338G>ACA366723454FSCN1c.914G>A (p.Cys305Tyr)
c.80G>A (p.Cys27Tyr)
n.467G>A
7g.5603338G>CCA366723450FSCN1c.914G>C (p.Cys305Ser)
c.80G>C (p.Cys27Ser)
n.467G>C
7g.5603338G>TCA366723452FSCN1c.914G>T (p.Cys305Phe)
c.80G>T (p.Cys27Phe)
n.467G>T
7g.5603339T>ACA366723458FSCN1c.915T>A (p.Cys305Ter)
c.81T>A (p.Cys27Ter)
n.468T>A
7g.5603339T>CCA453639904FSCN1c.915T>C (p.Cys305=)
c.81T>C (p.Cys27=)
n.468T>C
dbSNP
7g.5603339T>GCA366723460FSCN1c.915T>G (p.Cys305Trp)
c.81T>G (p.Cys27Trp)
n.468T>G
7g.5603339T=CA1685036866FSCN1c.915T= (p.Cys305=)
c.81T= (p.Cys27=)
n.468T=
7g.5603340G>ACA366723462FSCN1c.916G>A (p.Ala306Thr)
c.82G>A (p.Ala28Thr)
n.469G>A
gnomAD v4
7g.5603340G>CCA366723463FSCN1c.916G>C (p.Ala306Pro)
c.82G>C (p.Ala28Pro)
n.469G>C
7g.5603340G>TCA366723466FSCN1c.916G>T (p.Ala306Ser)
c.82G>T (p.Ala28Ser)
n.469G>T
7g.5603341C>ACA366723475FSCN1c.917C>A (p.Ala306Asp)
c.83C>A (p.Ala28Asp)
n.470C>A
dbSNP
7g.5603341C=CA1685036868FSCN1c.917C= (p.Ala306=)
c.83C= (p.Ala28=)
n.470C=
7g.5603341C>GCA366723471FSCN1c.917C>G (p.Ala306Gly)
c.83C>G (p.Ala28Gly)
n.470C>G
7g.5603341C>TCA366723473FSCN1c.917C>T (p.Ala306Val)
c.83C>T (p.Ala28Val)
n.470C>T
dbSNP gnomAD v2 gnomAD v4
7g.5603342C>ACA453639905FSCN1c.918C>A (p.Ala306=)
c.84C>A (p.Ala28=)
n.471C>A
7g.5603342C>GCA453639907FSCN1c.918C>G (p.Ala306=)
c.84C>G (p.Ala28=)
n.471C>G
7g.5603342C>TCA453639906FSCN1c.918C>T (p.Ala306=)
c.84C>T (p.Ala28=)
n.471C>T
7g.5603343T>ACA366723478FSCN1c.919T>A (p.Phe307Ile)
c.85T>A (p.Phe29Ile)
n.472T>A
7g.5603343T>CCA366723482FSCN1c.919T>C (p.Phe307Leu)
c.85T>C (p.Phe29Leu)
n.472T>C
7g.5603343T>GCA366723484FSCN1c.919T>G (p.Phe307Val)
c.85T>G (p.Phe29Val)
n.472T>G
7g.5603344T>ACA366723487FSCN1c.920T>A (p.Phe307Tyr)
c.86T>A (p.Phe29Tyr)
n.473T>A
7g.5603344T>CCA366723489FSCN1c.920T>C (p.Phe307Ser)
c.86T>C (p.Phe29Ser)
n.473T>C
7g.5603344T>GCA366723491FSCN1c.920T>G (p.Phe307Cys)
c.86T>G (p.Phe29Cys)
n.473T>G
7g.5603345C>ACA366723500FSCN1c.921C>A (p.Phe307Leu)
c.87C>A (p.Phe29Leu)
n.474C>A
7g.5603345C>GCA366723502FSCN1c.921C>G (p.Phe307Leu)
c.87C>G (p.Phe29Leu)
n.474C>G
7g.5603345C>TCA453639908FSCN1c.921C>T (p.Phe307=)
c.87C>T (p.Phe29=)
n.474C>T
gnomAD v4
7g.5603346C>ACA366723505FSCN1c.922C>A (p.Arg308Ser)
c.88C>A (p.Arg30Ser)
n.475C>A
7g.5603346C=CA1685036871FSCN1c.922C= (p.Arg308=)
c.88C= (p.Arg30=)
n.475C=
7g.5603346C>GCA366723511FSCN1c.922C>G (p.Arg308Gly)
c.88C>G (p.Arg30Gly)
n.475C>G
7g.5603346C>TCA4147460FSCN1c.922C>T (p.Arg308Cys)
c.88C>T (p.Arg30Cys)
n.475C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603347G>ACA4147461FSCN1c.923G>A (p.Arg308His)
c.89G>A (p.Arg30His)
n.476G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603347G>CCA366723515FSCN1c.923G>C (p.Arg308Pro)
c.89G>C (p.Arg30Pro)
n.476G>C
gnomAD v4
7g.5603347G=CA1685036876FSCN1c.923G= (p.Arg308=)
c.89G= (p.Arg30=)
n.476G=
7g.5603347G>TCA366723518FSCN1c.923G>T (p.Arg308Leu)
c.89G>T (p.Arg30Leu)
n.476G>T
gnomAD v4
7g.5603348T>ACA453639909FSCN1c.924T>A (p.Arg308=)
c.90T>A (p.Arg30=)
n.477T>A
7g.5603348T>CCA453639910FSCN1c.924T>C (p.Arg308=)
c.90T>C (p.Arg30=)
n.477T>C
7g.5603348T>GCA4147462FSCN1c.924T>G (p.Arg308=)
c.90T>G (p.Arg30=)
n.477T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603348T=CA1685036879FSCN1c.924T= (p.Arg308=)
c.90T= (p.Arg30=)
n.477T=
7g.5603349A>CCA366723524FSCN1c.925A>C (p.Thr309Pro)
c.91A>C (p.Thr31Pro)
n.478A>C
7g.5603349A>GCA366723530FSCN1c.925A>G (p.Thr309Ala)
c.91A>G (p.Thr31Ala)
n.478A>G
7g.5603349A>TCA366723526FSCN1c.925A>T (p.Thr309Ser)
c.91A>T (p.Thr31Ser)
n.478A>T
7g.5603350C>ACA366723534FSCN1c.926C>A (p.Thr309Asn)
c.92C>A (p.Thr31Asn)
n.479C>A
7g.5603350C>GCA366723537FSCN1c.926C>G (p.Thr309Ser)
c.92C>G (p.Thr31Ser)
n.479C>G
7g.5603350C>TCA366723538FSCN1c.926C>T (p.Thr309Ile)
c.92C>T (p.Thr31Ile)
n.479C>T
COSMIC
7g.5603351C>ACA453639911FSCN1c.927C>A (p.Thr309=)
c.93C>A (p.Thr31=)
n.480C>A
7g.5603351C=CA1685036883FSCN1c.927C= (p.Thr309=)
c.93C= (p.Thr31=)
n.480C=
7g.5603351C>GCA453639912FSCN1c.927C>G (p.Thr309=)
c.93C>G (p.Thr31=)
n.480C>G
dbSNP gnomAD v3 gnomAD v4
7g.5603351C>TCA453639913FSCN1c.927C>T (p.Thr309=)
c.93C>T (p.Thr31=)
n.480C>T
7g.5603352C>ACA366723543FSCN1c.928C>A (p.His310Asn)
c.94C>A (p.His32Asn)
n.481C>A
7g.5603352C>GCA366723545FSCN1c.928C>G (p.His310Asp)
c.94C>G (p.His32Asp)
n.481C>G
7g.5603352C>TCA366723547FSCN1c.928C>T (p.His310Tyr)
c.94C>T (p.His32Tyr)
n.481C>T
7g.5603353A>CCA366723551FSCN1c.929A>C (p.His310Pro)
c.95A>C (p.His32Pro)
n.482A>C
7g.5603353A>GCA366723554FSCN1c.929A>G (p.His310Arg)
c.95A>G (p.His32Arg)
n.482A>G
7g.5603353A>TCA366723556FSCN1c.929A>T (p.His310Leu)
c.95A>T (p.His32Leu)
n.482A>T
7g.5603354C>ACA366723560FSCN1c.930C>A (p.His310Gln)
c.96C>A (p.His32Gln)
n.483C>A
7g.5603354C>GCA366723564FSCN1c.930C>G (p.His310Gln)
c.96C>G (p.His32Gln)
n.483C>G
gnomAD v4
7g.5603354C>TCA453639914FSCN1c.930C>T (p.His310=)
c.96C>T (p.His32=)
n.483C>T
7g.5603355A=CA1685036885FSCN1c.931A= (p.Thr311=)
c.97A= (p.Thr33=)
n.484A=
7g.5603355A>CCA366723571FSCN1c.931A>C (p.Thr311Pro)
c.97A>C (p.Thr33Pro)
n.484A>C
7g.5603355A>GCA366723566FSCN1c.931A>G (p.Thr311Ala)
c.97A>G (p.Thr33Ala)
n.484A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603355A>TCA366723569FSCN1c.931A>T (p.Thr311Ser)
c.97A>T (p.Thr33Ser)
n.484A>T
7g.5603356C>ACA366723574FSCN1c.932C>A (p.Thr311Lys)
c.98C>A (p.Thr33Lys)
n.485C>A
7g.5603356C=CA1685036888FSCN1c.932C= (p.Thr311=)
c.98C= (p.Thr33=)
n.485C=
7g.5603356C>GCA366723577FSCN1c.932C>G (p.Thr311Arg)
c.98C>G (p.Thr33Arg)
n.485C>G
dbSNP gnomAD v2 gnomAD v4
7g.5603356C>TCA4147463FSCN1c.932C>T (p.Thr311Met)
c.98C>T (p.Thr33Met)
n.485C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603357G>ACA453639915FSCN1c.933G>A (p.Thr311=)
c.99G>A (p.Thr33=)
n.486G>A
dbSNP gnomAD v3 gnomAD v4
7g.5603357G>CCA453639917FSCN1c.933G>C (p.Thr311=)
c.99G>C (p.Thr33=)
n.486G>C
7g.5603357G=CA1685036892FSCN1c.933G= (p.Thr311=)
c.99G= (p.Thr33=)
n.486G=
7g.5603357G>TCA453639916FSCN1c.933G>T (p.Thr311=)
c.99G>T (p.Thr33=)
n.486G>T
7g.5603358G>ACA366723583FSCN1c.934G>A (p.Gly312Ser)
c.100G>A (p.Gly34Ser)
n.487G>A
7g.5603358G>CCA366723585FSCN1c.934G>C (p.Gly312Arg)
c.100G>C (p.Gly34Arg)
n.487G>C
7g.5603358G>TCA366723587FSCN1c.934G>T (p.Gly312Cys)
c.100G>T (p.Gly34Cys)
n.487G>T
7g.5603359G>ACA366723589FSCN1c.935G>A (p.Gly312Asp)
c.101G>A (p.Gly34Asp)
n.488G>A
7g.5603359G>CCA366723590FSCN1c.935G>C (p.Gly312Ala)
c.101G>C (p.Gly34Ala)
n.488G>C
gnomAD v4
7g.5603359G=CA1685036894FSCN1c.935G= (p.Gly312=)
c.101G= (p.Gly34=)
n.488G=
7g.5603359G>TCA366723592FSCN1c.935G>T (p.Gly312Val)
c.101G>T (p.Gly34Val)
n.488G>T
dbSNP gnomAD v2 COSMIC
7g.5603360C>ACA453639918FSCN1c.936C>A (p.Gly312=)
c.102C>A (p.Gly34=)
n.489C>A
7g.5603360C=CA1685036896FSCN1c.936C= (p.Gly312=)
c.102C= (p.Gly34=)
n.489C=
7g.5603360C>GCA453639919FSCN1c.936C>G (p.Gly312=)
c.102C>G (p.Gly34=)
n.489C>G
7g.5603360C>TCA453639920FSCN1c.936C>T (p.Gly312=)
c.102C>T (p.Gly34=)
n.489C>T
dbSNP gnomAD v2
7g.5603361A>CCA366723595FSCN1c.937A>C (p.Lys313Gln)
c.103A>C (p.Lys35Gln)
n.490A>C
7g.5603361A>GCA366723597FSCN1c.937A>G (p.Lys313Glu)
c.103A>G (p.Lys35Glu)
n.490A>G
gnomAD v4
7g.5603361A>TCA366723600FSCN1c.937A>T (p.Lys313Ter)
c.103A>T (p.Lys35Ter)
n.490A>T
7g.5603362A>CCA366723609FSCN1c.938A>C (p.Lys313Thr)
c.104A>C (p.Lys35Thr)
n.491A>C
7g.5603362A>GCA366723606FSCN1c.938A>G (p.Lys313Arg)
c.104A>G (p.Lys35Arg)
n.491A>G
COSMIC
7g.5603362A>TCA366723603FSCN1c.938A>T (p.Lys313Met)
c.104A>T (p.Lys35Met)
n.491A>T
7g.5603363G>ACA453639921FSCN1c.939G>A (p.Lys313=)
c.105G>A (p.Lys35=)
n.492G>A
7g.5603363G>CCA4147464FSCN1c.939G>C (p.Lys313Asn)
c.105G>C (p.Lys35Asn)
n.492G>C
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603363G=CA1685036898FSCN1c.939G= (p.Lys313=)
c.105G= (p.Lys35=)
n.492G=
7g.5603363G>TCA366723612FSCN1c.939G>T (p.Lys313Asn)
c.105G>T (p.Lys35Asn)
n.492G>T
7g.5603364T>ACA366723614FSCN1c.940T>A (p.Tyr314Asn)
c.106T>A (p.Tyr36Asn)
n.493T>A
7g.5603364T>CCA366723617FSCN1c.940T>C (p.Tyr314His)
c.106T>C (p.Tyr36His)
n.493T>C
7g.5603364T>GCA366723620FSCN1c.940T>G (p.Tyr314Asp)
c.106T>G (p.Tyr36Asp)
n.493T>G
7g.5603365A>CCA366723621FSCN1c.941A>C (p.Tyr314Ser)
c.107A>C (p.Tyr36Ser)
n.494A>C
7g.5603365A>GCA366723623FSCN1c.941A>G (p.Tyr314Cys)
c.107A>G (p.Tyr36Cys)
n.494A>G
7g.5603365A>TCA366723626FSCN1c.941A>T (p.Tyr314Phe)
c.107A>T (p.Tyr36Phe)
n.494A>T
7g.5603366C>ACA366723628FSCN1c.942C>A (p.Tyr314Ter)
c.108C>A (p.Tyr36Ter)
n.495C>A
7g.5603366C>GCA366723629FSCN1c.942C>G (p.Tyr314Ter)
c.108C>G (p.Tyr36Ter)
n.495C>G
7g.5603366C>TCA453639922FSCN1c.942C>T (p.Tyr314=)
c.108C>T (p.Tyr36=)
n.495C>T
gnomAD v4
7g.5603367T>ACA366723630FSCN1c.943T>A (p.Trp315Arg)
c.109T>A (p.Trp37Arg)
n.496T>A
7g.5603367T>CCA366723632FSCN1c.943T>C (p.Trp315Arg)
c.109T>C (p.Trp37Arg)
n.496T>C
7g.5603367T>GCA366723635FSCN1c.943T>G (p.Trp315Gly)
c.109T>G (p.Trp37Gly)
n.496T>G
7g.5603368G>ACA366723642FSCN1c.944G>A (p.Trp315Ter)
c.110G>A (p.Trp37Ter)
n.497G>A
7g.5603368G>CCA366723644FSCN1c.944G>C (p.Trp315Ser)
c.110G>C (p.Trp37Ser)
n.497G>C
7g.5603368G>TCA366723639FSCN1c.944G>T (p.Trp315Leu)
c.110G>T (p.Trp37Leu)
n.497G>T
7g.5603369G>ACA366723646FSCN1c.945G>A (p.Trp315Ter)
c.111G>A (p.Trp37Ter)
n.498G>A
7g.5603369G>CCA366723651FSCN1c.945G>C (p.Trp315Cys)
c.111G>C (p.Trp37Cys)
n.498G>C
7g.5603369G>TCA366723648FSCN1c.945G>T (p.Trp315Cys)
c.111G>T (p.Trp37Cys)
n.498G>T
7g.5603370A>CCA366723653FSCN1c.946A>C (p.Thr316Pro)
c.112A>C (p.Thr38Pro)
n.499A>C
gnomAD v4
7g.5603370A>GCA366723659FSCN1c.946A>G (p.Thr316Ala)
c.112A>G (p.Thr38Ala)
n.499A>G
7g.5603370A>TCA366723656FSCN1c.946A>T (p.Thr316Ser)
c.112A>T (p.Thr38Ser)
n.499A>T
7g.5603371C>ACA366723662FSCN1c.947C>A (p.Thr316Lys)
c.113C>A (p.Thr38Lys)
n.500C>A
7g.5603371C=CA1685036899FSCN1c.947C= (p.Thr316=)
c.113C= (p.Thr38=)
n.500C=
7g.5603371C>GCA366723665FSCN1c.947C>G (p.Thr316Arg)
c.113C>G (p.Thr38Arg)
n.500C>G
7g.5603371C>TCA4147465FSCN1c.947C>T (p.Thr316Met)
c.113C>T (p.Thr38Met)
n.500C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.5603372G>ACA4147466FSCN1c.948G>A (p.Thr316=)
c.114G>A (p.Thr38=)
n.501G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603372G>CCA453639923FSCN1c.948G>C (p.Thr316=)
c.114G>C (p.Thr38=)
n.501G>C
7g.5603372G=CA1685036903FSCN1c.948G= (p.Thr316=)
c.114G= (p.Thr38=)
n.501G=
7g.5603372G>TCA453639924FSCN1c.948G>T (p.Thr316=)
c.114G>T (p.Thr38=)
n.501G>T
7g.5603373C>ACA366723671FSCN1c.949C>A (p.Leu317Met)
c.115C>A (p.Leu39Met)
n.502C>A
7g.5603373C>GCA366723673FSCN1c.949C>G (p.Leu317Val)
c.115C>G (p.Leu39Val)
n.502C>G
7g.5603373C>TCA453639925FSCN1c.949C>T (p.Leu317=)
c.115C>T (p.Leu39=)
n.502C>T
7g.5603374T>ACA366723679FSCN1c.950T>A (p.Leu317Gln)
c.116T>A (p.Leu39Gln)
n.503T>A
COSMIC
7g.5603374T>CCA366723683FSCN1c.950T>C (p.Leu317Pro)
c.116T>C (p.Leu39Pro)
n.503T>C
dbSNP gnomAD v4
7g.5603374T>GCA366723685FSCN1c.950T>G (p.Leu317Arg)
c.116T>G (p.Leu39Arg)
n.503T>G
7g.5603374T=CA1685036906FSCN1c.950T= (p.Leu317=)
c.116T= (p.Leu39=)
n.503T=
7g.5603375G>ACA453639926FSCN1c.951G>A (p.Leu317=)
c.117G>A (p.Leu39=)
n.504G>A
7g.5603375G>CCA453639927FSCN1c.951G>C (p.Leu317=)
c.117G>C (p.Leu39=)
n.504G>C
7g.5603375G>TCA453639928FSCN1c.951G>T (p.Leu317=)
c.117G>T (p.Leu39=)
n.504G>T
7g.5603376A>CCA366723690FSCN1c.952A>C (p.Thr318Pro)
c.118A>C (p.Thr40Pro)
n.505A>C
7g.5603376A>GCA366723693FSCN1c.952A>G (p.Thr318Ala)
c.118A>G (p.Thr40Ala)
n.505A>G
7g.5603376A>TCA366723696FSCN1c.952A>T (p.Thr318Ser)
c.118A>T (p.Thr40Ser)
n.505A>T
7g.5603377C>ACA366723713FSCN1c.953C>A (p.Thr318Lys)
c.119C>A (p.Thr40Lys)
n.506C>A
7g.5603377C=CA1685036911FSCN1c.953C= (p.Thr318=)
c.119C= (p.Thr40=)
n.506C=
7g.5603377C>GCA366723707FSCN1c.953C>G (p.Thr318Arg)
c.119C>G (p.Thr40Arg)
n.506C>G
7g.5603377C>TCA4147467FSCN1c.953C>T (p.Thr318Met)
c.119C>T (p.Thr40Met)
n.506C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603378G>ACA4147468FSCN1c.954G>A (p.Thr318=)
c.120G>A (p.Thr40=)
n.507G>A
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603378G>CCA453639929FSCN1c.954G>C (p.Thr318=)
c.120G>C (p.Thr40=)
n.507G>C
7g.5603378G=CA1685036914FSCN1c.954G= (p.Thr318=)
c.120G= (p.Thr40=)
n.507G=
7g.5603378G>TCA453639930FSCN1c.954G>T (p.Thr318=)
c.120G>T (p.Thr40=)
n.507G>T
dbSNP gnomAD v4
7g.5603379G>ACA366723722FSCN1c.955G>A (p.Ala319Thr)
c.121G>A (p.Ala41Thr)
n.508G>A
7g.5603379G>CCA366723724FSCN1c.955G>C (p.Ala319Pro)
c.121G>C (p.Ala41Pro)
n.508G>C
7g.5603379G>TCA366723726FSCN1c.955G>T (p.Ala319Ser)
c.121G>T (p.Ala41Ser)
n.508G>T
7g.5603380C>ACA366723730FSCN1c.956C>A (p.Ala319Asp)
c.122C>A (p.Ala41Asp)
n.509C>A
7g.5603380C>GCA366723734FSCN1c.956C>G (p.Ala319Gly)
c.122C>G (p.Ala41Gly)
n.509C>G
7g.5603380C>TCA366723737FSCN1c.956C>T (p.Ala319Val)
c.122C>T (p.Ala41Val)
n.509C>T
7g.5603381C>ACA453639931FSCN1c.957C>A (p.Ala319=)
c.123C>A (p.Ala41=)
n.510C>A
7g.5603381C>GCA453639932FSCN1c.957C>G (p.Ala319=)
c.123C>G (p.Ala41=)
n.510C>G
7g.5603381C>TCA453639933FSCN1c.957C>T (p.Ala319=)
c.123C>T (p.Ala41=)
n.510C>T
7g.5603382A>CCA366723742FSCN1c.958A>C (p.Thr320Pro)
c.124A>C (p.Thr42Pro)
n.511A>C
7g.5603382A>GCA366723745FSCN1c.958A>G (p.Thr320Ala)
c.124A>G (p.Thr42Ala)
n.511A>G
7g.5603382A>TCA366723748FSCN1c.958A>T (p.Thr320Ser)
c.124A>T (p.Thr42Ser)
n.511A>T
7g.5603383C>ACA366723756FSCN1c.959C>A (p.Thr320Asn)
c.125C>A (p.Thr42Asn)
n.512C>A
7g.5603383C>GCA366723755FSCN1c.959C>G (p.Thr320Ser)
c.125C>G (p.Thr42Ser)
n.512C>G
7g.5603383C>TCA366723753FSCN1c.959C>T (p.Thr320Ile)
c.125C>T (p.Thr42Ile)
n.512C>T
7g.5603384C>ACA453639937FSCN1c.960C>A (p.Thr320=)
c.126C>A (p.Thr42=)
n.513C>A
7g.5603384C=CA1685036922FSCN1c.960C= (p.Thr320=)
c.126C= (p.Thr42=)
n.513C=
7g.5603384C>GCA453639938FSCN1c.960C>G (p.Thr320=)
c.126C>G (p.Thr42=)
n.513C>G
7g.5603384C>TCA4147469FSCN1c.960C>T (p.Thr320=)
c.126C>T (p.Thr42=)
n.513C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603385G>ACA366723762FSCN1c.961G>A (p.Gly321Arg)
c.127G>A (p.Gly43Arg)
n.514G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.5603385G>CCA366723764FSCN1c.961G>C (p.Gly321Arg)
c.127G>C (p.Gly43Arg)
n.514G>C
7g.5603385G=CA1685036925FSCN1c.961G= (p.Gly321=)
c.127G= (p.Gly43=)
n.514G=
7g.5603385G>TCA366723767FSCN1c.961G>T (p.Gly321Trp)
c.127G>T (p.Gly43Trp)
n.514G>T
7g.5603389delCA2681654514FSCN1c.965del (p.Gly322AlafsTer26)
c.131del (p.Gly44AlafsTer26)
n.518del
gnomAD v4
7g.5603386G>ACA366723769FSCN1c.962G>A (p.Gly321Glu)
c.128G>A (p.Gly43Glu)
n.515G>A
7g.5603386G>CCA366723771FSCN1c.962G>C (p.Gly321Ala)
c.128G>C (p.Gly43Ala)
n.515G>C
7g.5603386G>TCA366723773FSCN1c.962G>T (p.Gly321Val)
c.128G>T (p.Gly43Val)
n.515G>T

Number of alleles fetched