Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5603514T>ACA366724048FSCN1c.1008T>A (p.Phe336Leu)
c.174T>A (p.Phe58Leu)
n.561T>A
7g.5603514T>CCA4147504FSCN1c.1008T>C (p.Phe336=)
c.174T>C (p.Phe58=)
n.561T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603514T>GCA366724046FSCN1c.1008T>G (p.Phe336Leu)
c.174T>G (p.Phe58Leu)
n.561T>G
gnomAD v4
7g.5603514T=CA1685037187FSCN1c.1008T= (p.Phe336=)
c.174T= (p.Phe58=)
n.561T=
7g.5603515G>ACA4147506FSCN1c.1009G>A (p.Asp337Asn)
c.175G>A (p.Asp59Asn)
n.562G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603515G>CCA4147505FSCN1c.1009G>C (p.Asp337His)
c.175G>C (p.Asp59His)
n.562G>C
dbSNP ExAC gnomAD v2 gnomAD v4
7g.5603515G=CA1685037193FSCN1c.1009G= (p.Asp337=)
c.175G= (p.Asp59=)
n.562G=
7g.5603515G>TCA366724055FSCN1c.1009G>T (p.Asp337Tyr)
c.175G>T (p.Asp59Tyr)
n.562G>T
dbSNP
7g.5603516A>CCA366724058FSCN1c.1010A>C (p.Asp337Ala)
c.176A>C (p.Asp59Ala)
n.563A>C
7g.5603516A>GCA366724059FSCN1c.1010A>G (p.Asp337Gly)
c.176A>G (p.Asp59Gly)
n.563A>G
7g.5603516A>TCA366724061FSCN1c.1010A>T (p.Asp337Val)
c.176A>T (p.Asp59Val)
n.563A>T
gnomAD v4
7g.5603517C>ACA366724064FSCN1c.1011C>A (p.Asp337Glu)
c.177C>A (p.Asp59Glu)
n.564C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603517C=CA1685037198FSCN1c.1011C= (p.Asp337=)
c.177C= (p.Asp59=)
n.564C=
7g.5603517C>GCA366724066FSCN1c.1011C>G (p.Asp337Glu)
c.177C>G (p.Asp59Glu)
n.564C>G
7g.5603517C>TCA453640048FSCN1c.1011C>T (p.Asp337=)
c.177C>T (p.Asp59=)
n.564C>T
7g.5603518A=CA1685037203FSCN1c.1012A= (p.Ile338=)
c.178A= (p.Ile60=)
n.565A=
7g.5603518A>CCA366724068FSCN1c.1012A>C (p.Ile338Leu)
c.178A>C (p.Ile60Leu)
n.565A>C
7g.5603518A>GCA366724069FSCN1c.1012A>G (p.Ile338Val)
c.178A>G (p.Ile60Val)
n.565A>G
dbSNP gnomAD v2 gnomAD v4
7g.5603518A>TCA366724071FSCN1c.1012A>T (p.Ile338Phe)
c.178A>T (p.Ile60Phe)
n.565A>T
7g.5603519T>ACA366724073FSCN1c.1013T>A (p.Ile338Asn)
c.179T>A (p.Ile60Asn)
n.566T>A
7g.5603519T>CCA366724075FSCN1c.1013T>C (p.Ile338Thr)
c.179T>C (p.Ile60Thr)
n.566T>C
7g.5603519T>GCA366724077FSCN1c.1013T>G (p.Ile338Ser)
c.179T>G (p.Ile60Ser)
n.566T>G
7g.5603520C>ACA453640055FSCN1c.1014C>A (p.Ile338=)
c.180C>A (p.Ile60=)
n.567C>A
7g.5603520C=CA1685037207FSCN1c.1014C= (p.Ile338=)
c.180C= (p.Ile60=)
n.567C=
7g.5603520C>GCA366724080FSCN1c.1014C>G (p.Ile338Met)
c.180C>G (p.Ile60Met)
n.567C>G
7g.5603520C>TCA453640056FSCN1c.1014C>T (p.Ile338=)
c.180C>T (p.Ile60=)
n.567C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603521G>ACA4147507FSCN1c.1015G>A (p.Glu339Lys)
c.181G>A (p.Glu61Lys)
n.568G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.5603521G>CCA366724083FSCN1c.1015G>C (p.Glu339Gln)
c.181G>C (p.Glu61Gln)
n.568G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5603521G=CA1685037213FSCN1c.1015G= (p.Glu339=)
c.181G= (p.Glu61=)
n.568G=
7g.5603521G>TCA366724085FSCN1c.1015G>T (p.Glu339Ter)
c.181G>T (p.Glu61Ter)
n.568G>T
7g.5603522A>CCA366724089FSCN1c.1016A>C (p.Glu339Ala)
c.182A>C (p.Glu61Ala)
n.569A>C
7g.5603522A>GCA366724091FSCN1c.1016A>G (p.Glu339Gly)
c.182A>G (p.Glu61Gly)
n.569A>G
7g.5603522A>TCA366724093FSCN1c.1016A>T (p.Glu339Val)
c.182A>T (p.Glu61Val)
n.569A>T
gnomAD v4
7g.5603523G>ACA453640059FSCN1c.1017G>A (p.Glu339=)
c.183G>A (p.Glu61=)
n.570G>A
gnomAD v4
7g.5603523G>CCA366724096FSCN1c.1017G>C (p.Glu339Asp)
c.183G>C (p.Glu61Asp)
n.570G>C
7g.5603523G>TCA366724098FSCN1c.1017G>T (p.Glu339Asp)
c.183G>T (p.Glu61Asp)
n.570G>T
7g.5603524T>ACA366724101FSCN1c.1018T>A (p.Trp340Arg)
c.184T>A (p.Trp62Arg)
n.571T>A
7g.5603524T>CCA366724103FSCN1c.1018T>C (p.Trp340Arg)
c.184T>C (p.Trp62Arg)
n.571T>C
gnomAD v4
7g.5603524T>GCA366724105FSCN1c.1018T>G (p.Trp340Gly)
c.184T>G (p.Trp62Gly)
n.571T>G
7g.5603525G>ACA366724108FSCN1c.1019G>A (p.Trp340Ter)
c.185G>A (p.Trp62Ter)
n.572G>A
7g.5603525G>CCA366724110FSCN1c.1019G>C (p.Trp340Ser)
c.185G>C (p.Trp62Ser)
n.572G>C
7g.5603525G>TCA366724111FSCN1c.1019G>T (p.Trp340Leu)
c.185G>T (p.Trp62Leu)
n.572G>T
7g.5603526G>ACA366724118FSCN1c.1020G>A (p.Trp340Ter)
c.186G>A (p.Trp62Ter)
n.573G>A
7g.5603526G>CCA366724116FSCN1c.1020G>C (p.Trp340Cys)
c.186G>C (p.Trp62Cys)
n.573G>C
7g.5603526G>TCA366724114FSCN1c.1020G>T (p.Trp340Cys)
c.186G>T (p.Trp62Cys)
n.573G>T
7g.5603527C>ACA366724121FSCN1c.1021C>A (p.Arg341Ser)
c.187C>A (p.Arg63Ser)
n.574C>A
7g.5603527C=CA1685037219FSCN1c.1021C= (p.Arg341=)
c.187C= (p.Arg63=)
n.574C=
7g.5603527C>GCA366724123FSCN1c.1021C>G (p.Arg341Gly)
c.187C>G (p.Arg63Gly)
n.574C>G
7g.5603527C>TCA153233826FSCN1c.1021C>T (p.Arg341Cys)
c.187C>T (p.Arg63Cys)
n.574C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.5603528G>ACA4147508FSCN1c.1022G>A (p.Arg341His)
c.188G>A (p.Arg63His)
n.575G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched