Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
7g.5603387G>ACA4147470FSCN1c.963G>A (p.Gly321=)
c.129G>A (p.Gly43=)
n.516G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603387G>CCA453639941FSCN1c.963G>C (p.Gly321=)
c.129G>C (p.Gly43=)
n.516G>C
7g.5603387G=CA1685036929FSCN1c.963G= (p.Gly321=)
c.129G= (p.Gly43=)
n.516G=
7g.5603387G>TCA453639942FSCN1c.963G>T (p.Gly321=)
c.129G>T (p.Gly43=)
n.516G>T
7g.5603388G>ACA366723778FSCN1c.964G>A (p.Gly322Ser)
c.130G>A (p.Gly44Ser)
n.517G>A
7g.5603388G>CCA366723780FSCN1c.964G>C (p.Gly322Arg)
c.130G>C (p.Gly44Arg)
n.517G>C
7g.5603388G>TCA366723783FSCN1c.964G>T (p.Gly322Cys)
c.130G>T (p.Gly44Cys)
n.517G>T
7g.5603389G>ACA4147471FSCN1c.965G>A (p.Gly322Asp)
c.131G>A (p.Gly44Asp)
n.518G>A
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603389G>CCA366723790FSCN1c.965G>C (p.Gly322Ala)
c.131G>C (p.Gly44Ala)
n.518G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603389G=CA1685036935FSCN1c.965G= (p.Gly322=)
c.131G= (p.Gly44=)
n.518G=
7g.5603389G>TCA366723787FSCN1c.965G>T (p.Gly322Val)
c.131G>T (p.Gly44Val)
n.518G>T
7g.5603390C>ACA453639945FSCN1c.966C>A (p.Gly322=)
c.132C>A (p.Gly44=)
n.519C>A
7g.5603390C=CA1685036941FSCN1c.966C= (p.Gly322=)
c.132C= (p.Gly44=)
n.519C=
7g.5603390C>GCA453639946FSCN1c.966C>G (p.Gly322=)
c.132C>G (p.Gly44=)
n.519C>G
7g.5603390C>TCA4147472FSCN1c.966C>T (p.Gly322=)
c.132C>T (p.Gly44=)
n.519C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603391G>ACA4147473FSCN1c.967G>A (p.Val323Met)
c.133G>A (p.Val45Met)
n.520G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.5603391G>CCA366723799FSCN1c.967G>C (p.Val323Leu)
c.133G>C (p.Val45Leu)
n.520G>C
7g.5603391G=CA1685036946FSCN1c.967G= (p.Val323=)
c.133G= (p.Val45=)
n.520G=
7g.5603391G>TCA366723802FSCN1c.967G>T (p.Val323Leu)
c.133G>T (p.Val45Leu)
n.520G>T
7g.5603392T>ACA366723806FSCN1c.968T>A (p.Val323Glu)
c.134T>A (p.Val45Glu)
n.521T>A
7g.5603392T>CCA366723808FSCN1c.968T>C (p.Val323Ala)
c.134T>C (p.Val45Ala)
n.521T>C
7g.5603392T>GCA366723810FSCN1c.968T>G (p.Val323Gly)
c.134T>G (p.Val45Gly)
n.521T>G
7g.5603393G>ACA453639948FSCN1c.969G>A (p.Val323=)
c.135G>A (p.Val45=)
n.522G>A
7g.5603393G>CCA453639949FSCN1c.969G>C (p.Val323=)
c.135G>C (p.Val45=)
n.522G>C
7g.5603393G=CA1685036951FSCN1c.969G= (p.Val323=)
c.135G= (p.Val45=)
n.522G=
7g.5603393G>TCA453639950FSCN1c.969G>T (p.Val323=)
c.135G>T (p.Val45=)
n.522G>T
dbSNP
7g.5603394C>ACA366723814FSCN1c.970C>A (p.Gln324Lys)
c.136C>A (p.Gln46Lys)
n.523C>A
7g.5603394C>GCA366723817FSCN1c.970C>G (p.Gln324Glu)
c.136C>G (p.Gln46Glu)
n.523C>G
gnomAD v4
7g.5603394C>TCA366723820FSCN1c.970C>T (p.Gln324Ter)
c.136C>T (p.Gln46Ter)
n.523C>T
7g.5603395A>CCA366723823FSCN1c.971A>C (p.Gln324Pro)
c.137A>C (p.Gln46Pro)
n.524A>C
7g.5603395A>GCA366723826FSCN1c.971A>G (p.Gln324Arg)
c.137A>G (p.Gln46Arg)
n.524A>G
gnomAD v4
7g.5603395A>TCA366723829FSCN1c.971A>T (p.Gln324Leu)
c.137A>T (p.Gln46Leu)
n.524A>T
7g.5603396G>ACA453639951FSCN1c.972G>A (p.Gln324=)
c.138G>A (p.Gln46=)
n.525G>A
dbSNP
7g.5603396G>CCA366723833FSCN1c.972G>C (p.Gln324His)
c.138G>C (p.Gln46His)
n.525G>C
7g.5603396G=CA1685036954FSCN1c.972G= (p.Gln324=)
c.138G= (p.Gln46=)
n.525G=
7g.5603396G>TCA366723835FSCN1c.972G>T (p.Gln324His)
c.138G>T (p.Gln46His)
n.525G>T
7g.5603397T>ACA366723840FSCN1c.973T>A (p.Ser325Thr)
c.139T>A (p.Ser47Thr)
n.526T>A
7g.5603397T>CCA4147474FSCN1c.973T>C (p.Ser325Pro)
c.139T>C (p.Ser47Pro)
n.526T>C
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603397T>GCA4147475FSCN1c.973T>G (p.Ser325Ala)
c.139T>G (p.Ser47Ala)
n.526T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603397T=CA1685036959FSCN1c.973T= (p.Ser325=)
c.139T= (p.Ser47=)
n.526T=
7g.5603398C>ACA366723849FSCN1c.974C>A (p.Ser325Tyr)
c.140C>A (p.Ser47Tyr)
n.527C>A
7g.5603398C>GCA366723852FSCN1c.974C>G (p.Ser325Cys)
c.140C>G (p.Ser47Cys)
n.527C>G
gnomAD v4
7g.5603398C>TCA366723855FSCN1c.974C>T (p.Ser325Phe)
c.140C>T (p.Ser47Phe)
n.527C>T
7g.5603399C>ACA453639954FSCN1c.975C>A (p.Ser325=)
c.141C>A (p.Ser47=)
n.528C>A
gnomAD v4
7g.5603399C=CA1685036965FSCN1c.975C= (p.Ser325=)
c.141C= (p.Ser47=)
n.528C=
7g.5603399C>GCA453639955FSCN1c.975C>G (p.Ser325=)
c.141C>G (p.Ser47=)
n.528C>G
7g.5603399C>TCA453639953FSCN1c.975C>T (p.Ser325=)
c.141C>T (p.Ser47=)
n.528C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603400A>CCA366723859FSCN1c.976A>C (p.Thr326Pro)
c.142A>C (p.Thr48Pro)
n.529A>C
7g.5603400A>GCA366723862FSCN1c.976A>G (p.Thr326Ala)
c.142A>G (p.Thr48Ala)
n.529A>G
7g.5603400A>TCA366723865FSCN1c.976A>T (p.Thr326Ser)
c.142A>T (p.Thr48Ser)
n.529A>T
7g.5603401C>ACA366723869FSCN1c.977C>A (p.Thr326Asn)
c.143C>A (p.Thr48Asn)
n.530C>A
gnomAD v4
7g.5603401C=CA1685036969FSCN1c.977C= (p.Thr326=)
c.143C= (p.Thr48=)
n.530C=
7g.5603401C>GCA366723870FSCN1c.977C>G (p.Thr326Ser)
c.143C>G (p.Thr48Ser)
n.530C>G
7g.5603401C>TCA366723873FSCN1c.977C>T (p.Thr326Ile)
c.143C>T (p.Thr48Ile)
n.530C>T
dbSNP gnomAD v2 gnomAD v4
7g.5603402C>ACA453639957FSCN1c.978C>A (p.Thr326=)
c.144C>A (p.Thr48=)
n.531C>A
7g.5603402C=CA1685036974FSCN1c.978C= (p.Thr326=)
c.144C= (p.Thr48=)
n.531C=
7g.5603402C>GCA453639958FSCN1c.978C>G (p.Thr326=)
c.144C>G (p.Thr48=)
n.531C>G
7g.5603402C>TCA4147476FSCN1c.978C>T (p.Thr326=)
c.144C>T (p.Thr48=)
n.531C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603403G>ACA366723886FSCN1c.979G>A (p.Ala327Thr)
c.145G>A (p.Ala49Thr)
n.532G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.5603403G>CCA366723883FSCN1c.979G>C (p.Ala327Pro)
c.145G>C (p.Ala49Pro)
n.532G>C
7g.5603403G=CA1685036977FSCN1c.979G= (p.Ala327=)
c.145G= (p.Ala49=)
n.532G=
7g.5603403G>TCA366723880FSCN1c.979G>T (p.Ala327Ser)
c.145G>T (p.Ala49Ser)
n.532G>T
7g.5603404C>ACA366723888FSCN1c.980C>A (p.Ala327Asp)
c.146C>A (p.Ala49Asp)
n.533C>A
7g.5603404C>GCA366723891FSCN1c.980C>G (p.Ala327Gly)
c.146C>G (p.Ala49Gly)
n.533C>G
7g.5603404C>TCA366723894FSCN1c.980C>T (p.Ala327Val)
c.146C>T (p.Ala49Val)
n.533C>T
7g.5603405C>ACA453639964FSCN1c.981C>A (p.Ala327=)
c.147C>A (p.Ala49=)
n.534C>A
7g.5603405C=CA1685036980FSCN1c.981C= (p.Ala327=)
c.147C= (p.Ala49=)
n.534C=
7g.5603405C>GCA453639963FSCN1c.981C>G (p.Ala327=)
c.147C>G (p.Ala49=)
n.534C>G
7g.5603405C>TCA453639962FSCN1c.981C>T (p.Ala327=)
c.147C>T (p.Ala49=)
n.534C>T
dbSNP gnomAD v2 gnomAD v4
7g.5603406T>ACA366723897FSCN1c.982T>A (p.Ser328Thr)
c.148T>A (p.Ser50Thr)
n.535T>A
7g.5603406T>CCA366723900FSCN1c.982T>C (p.Ser328Pro)
c.148T>C (p.Ser50Pro)
n.535T>C
7g.5603406T>GCA366723903FSCN1c.982T>G (p.Ser328Ala)
c.148T>G (p.Ser50Ala)
n.535T>G
7g.5603407C>ACA366723905FSCN1c.983C>A (p.Ser328Tyr)
c.149C>A (p.Ser50Tyr)
n.536C>A
7g.5603407C=CA1685036983FSCN1c.983C= (p.Ser328=)
c.149C= (p.Ser50=)
n.536C=
7g.5603407C>GCA366723906FSCN1c.983C>G (p.Ser328Cys)
c.149C>G (p.Ser50Cys)
n.536C>G
7g.5603407C>TCA4147477FSCN1c.983C>T (p.Ser328Phe)
c.149C>T (p.Ser50Phe)
n.536C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603408C>ACA453639968FSCN1c.984C>A (p.Ser328=)
c.150C>A (p.Ser50=)
n.537C>A
7g.5603408C=CA1685036988FSCN1c.984C= (p.Ser328=)
c.150C= (p.Ser50=)
n.537C=
7g.5603408C>GCA453639969FSCN1c.984C>G (p.Ser328=)
c.150C>G (p.Ser50=)
n.537C>G
7g.5603408C>TCA453639970FSCN1c.984C>T (p.Ser328=)
c.150C>T (p.Ser50=)
n.537C>T
dbSNP gnomAD v3 gnomAD v4
7g.5603409A=CA1685036991FSCN1c.985A= (p.Ser329=)
c.151A= (p.Ser51=)
n.538A=
7g.5603409A>CCA366723907FSCN1c.985A>C (p.Ser329Arg)
c.151A>C (p.Ser51Arg)
n.538A>C
gnomAD v4
7g.5603409A>GCA366723908FSCN1c.985A>G (p.Ser329Gly)
c.151A>G (p.Ser51Gly)
n.538A>G
dbSNP gnomAD v3 gnomAD v4
7g.5603409A>TCA366723909FSCN1c.985A>T (p.Ser329Cys)
c.151A>T (p.Ser51Cys)
n.538A>T
7g.5603410G>ACA366723911FSCN1c.986G>A (p.Ser329Asn)
c.152G>A (p.Ser51Asn)
n.539G>A
7g.5603410G>CCA366723912FSCN1c.986G>C (p.Ser329Thr)
c.152G>C (p.Ser51Thr)
n.539G>C
7g.5603410G>TCA366723910FSCN1c.986G>T (p.Ser329Ile)
c.152G>T (p.Ser51Ile)
n.539G>T
7g.5603411C>ACA366723913FSCN1c.987C>A (p.Ser329Arg)
c.153C>A (p.Ser51Arg)
n.540C>A
7g.5603411C>GCA366723914FSCN1c.987C>G (p.Ser329Arg)
c.153C>G (p.Ser51Arg)
n.540C>G
7g.5603411C>TCA453639974FSCN1c.987C>T (p.Ser329=)
c.153C>T (p.Ser51=)
n.540C>T
7g.5603412A>CCA366723915FSCN1c.988A>C (p.Lys330Gln)
c.154A>C (p.Lys52Gln)
n.541A>C
7g.5603412A>GCA366723916FSCN1c.988A>G (p.Lys330Glu)
c.154A>G (p.Lys52Glu)
n.541A>G
gnomAD v4
7g.5603412A>TCA366723917FSCN1c.988A>T (p.Lys330Ter)
c.154A>T (p.Lys52Ter)
n.541A>T
7g.5603413A>CCA366723918FSCN1c.989A>C (p.Lys330Thr)
c.155A>C (p.Lys52Thr)
n.542A>C
gnomAD v4
7g.5603413A>GCA366723919FSCN1c.989A>G (p.Lys330Arg)
c.155A>G (p.Lys52Arg)
n.542A>G
7g.5603413A>TCA366723920FSCN1c.989A>T (p.Lys330Met)
c.155A>T (p.Lys52Met)
n.542A>T
7g.5603414G>ACA366723921FSCN1c.989+1G>A (n.989+1G>A)
c.155+1G>A (n.155+1G>A)
n.542+1G>A
7g.5603414G>CCA366723922FSCN1c.989+1G>C (n.989+1G>C)
c.155+1G>C (n.155+1G>C)
n.542+1G>C
7g.5603414G>TCA366723923FSCN1c.989+1G>T (n.989+1G>T)
c.155+1G>T (n.155+1G>T)
n.542+1G>T
7g.5603415_5603496delCA2681654515FSCN1c.989+2_990del
c.155+2_156del
n.542+2_543del
gnomAD v4
7g.5603415T>ACA366723924FSCN1c.989+2T>A (n.989+2T>A)
c.155+2T>A (n.155+2T>A)
n.542+2T>A
7g.5603415T>CCA366723925FSCN1c.989+2T>C (n.989+2T>C)
c.155+2T>C (n.155+2T>C)
n.542+2T>C
7g.5603415T>GCA366723926FSCN1c.989+2T>G (n.989+2T>G)
c.155+2T>G (n.155+2T>G)
n.542+2T>G
7g.5603416G>ACA2681654516FSCN1c.989+3G>A (n.989+3G>A)
c.155+3G>A (n.155+3G>A)
n.542+3G>A
gnomAD v4
7g.5603420G>ACA4147478FSCN1c.989+7G>A (n.989+7G>A)
c.155+7G>A (n.155+7G>A)
n.542+7G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603420G=CA1685036995FSCN1c.989+7G= (n.989+7G=)
c.155+7G= (n.155+7G=)
n.542+7G=
7g.5603421C>TCA2578822419FSCN1c.989+8C>T (n.989+8C>T)
c.155+8C>T (n.155+8C>T)
n.542+8C>T
7g.5603422C>GCA2544503467FSCN1c.989+9C>G (n.989+9C>G)
c.155+9C>G (n.155+9C>G)
n.542+9C>G
gnomAD v4
7g.5603424C>ACA2681654517FSCN1c.989+11C>A (n.989+11C>A)
c.155+11C>A (n.155+11C>A)
n.542+11C>A
gnomAD v4
7g.5603424C=CA1685036999FSCN1c.989+11C= (n.989+11C=)
c.155+11C= (n.155+11C=)
n.542+11C=
7g.5603424C>GCA572822237FSCN1c.989+11C>G (n.989+11C>G)
c.155+11C>G (n.155+11C>G)
n.542+11C>G
dbSNP gnomAD v2 gnomAD v4
7g.5603424C>TCA4147479FSCN1c.989+11C>T (n.989+11C>T)
c.155+11C>T (n.155+11C>T)
n.542+11C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603425G>ACA4147480FSCN1c.989+12G>A (n.989+12G>A)
c.155+12G>A (n.155+12G>A)
n.542+12G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603425G>CCA2681654518FSCN1c.989+12G>C (n.989+12G>C)
c.155+12G>C (n.155+12G>C)
n.542+12G>C
gnomAD v4
7g.5603425G=CA1685037002FSCN1c.989+12G= (n.989+12G=)
c.155+12G= (n.155+12G=)
n.542+12G=
7g.5603426C=CA1685037005FSCN1c.989+13C= (n.989+13C=)
c.155+13C= (n.155+13C=)
n.542+13C=
7g.5603426C>TCA4147481FSCN1c.989+13C>T (n.989+13C>T)
c.155+13C>T (n.155+13C>T)
n.542+13C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603427T>CCA2681654519FSCN1c.989+14T>C (n.989+14T>C)
c.155+14T>C (n.155+14T>C)
n.542+14T>C
gnomAD v4
7g.5603428C=CA1685037010FSCN1c.989+15C= (n.989+15C=)
c.155+15C= (n.155+15C=)
n.542+15C=
7g.5603428C>TCA4147482FSCN1c.989+15C>T (n.989+15C>T)
c.155+15C>T (n.155+15C>T)
n.542+15C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603429C>GCA2681654520FSCN1c.989+16C>G (n.989+16C>G)
c.155+16C>G (n.155+16C>G)
n.542+16C>G
gnomAD v4
7g.5603431A=CA1685037013FSCN1c.989+18A= (n.989+18A=)
c.155+18A= (n.155+18A=)
n.542+18A=
7g.5603431A>CCA1685037014FSCN1c.989+18A>C (n.989+18A>C)
c.155+18A>C (n.155+18A>C)
n.542+18A>C
dbSNP
7g.5603432C>ACA2681654521FSCN1c.989+19C>A (n.989+19C>A)
c.155+19C>A (n.155+19C>A)
n.542+19C>A
gnomAD v4

Number of alleles fetched