Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112827247G>TCA16024690APCc.1408+5256G>T (n.1408+5256G>T)
c.1602G>T (p.Lys534Asn)
n.1604G>T
c.*1554G>T (n.*1554G>T)
c.1494G>T (p.Lys498Asn)
c.1548G>T (p.Lys516Asn)
c.96+5256G>T
c.237G>T (p.Lys79Asn)
n.35G>T
c.*870G>T (n.*870G>T)
c.35G>T
c.1578G>T (p.Lys526Asn)
c.1473G>T (p.Lys491Asn)
c.1464G>T (p.Lys488Asn)
c.1425G>T (p.Lys475Asn)
c.1371G>T (p.Lys457Asn)
c.1275G>T (p.Lys425Asn)
c.1245G>T (p.Lys415Asn)
c.1170G>T (p.Lys390Asn)
c.1068G>T (p.Lys356Asn)
c.699G>T (p.Lys233Asn)
 dbSNP COSMIC
5g.112827247G>CCA10584241APCc.1408+5256G>C (n.1408+5256G>C)
c.1602G>C (p.Lys534Asn)
n.1604G>C
c.*1554G>C (n.*1554G>C)
c.1494G>C (p.Lys498Asn)
c.1548G>C (p.Lys516Asn)
c.96+5256G>C
c.237G>C (p.Lys79Asn)
n.35G>C
c.*870G>C (n.*870G>C)
c.35G>C
c.1578G>C (p.Lys526Asn)
c.1473G>C (p.Lys491Asn)
c.1464G>C (p.Lys488Asn)
c.1425G>C (p.Lys475Asn)
c.1371G>C (p.Lys457Asn)
c.1275G>C (p.Lys425Asn)
c.1245G>C (p.Lys415Asn)
c.1170G>C (p.Lys390Asn)
c.1068G>C (p.Lys356Asn)
c.699G>C (p.Lys233Asn)
 ClinVar dbSNP
5g.112827247G>ACA445756204APCc.1408+5256G>A (n.1408+5256G>A)
c.1602G>A (p.Lys534=)
n.1604G>A
c.*1554G>A (n.*1554G>A)
c.1494G>A (p.Lys498=)
c.1548G>A (p.Lys516=)
c.96+5256G>A
c.237G>A (p.Lys79=)
n.35G>A
c.*870G>A (n.*870G>A)
c.35G>A
c.1578G>A (p.Lys526=)
c.1473G>A (p.Lys491=)
c.1464G>A (p.Lys488=)
c.1425G>A (p.Lys475=)
c.1371G>A (p.Lys457=)
c.1275G>A (p.Lys425=)
c.1245G>A (p.Lys415=)
c.1170G>A (p.Lys390=)
c.1068G>A (p.Lys356=)
c.699G>A (p.Lys233=)
 ClinVar dbSNP COSMIC
5g.112827247G=CA1573505787APCc.1408+5256G= (n.1408+5256G=)
c.1602G= (p.Lys534=)
n.1604G=
c.*1554G= (n.*1554G=)
c.1494G= (p.Lys498=)
c.1548G= (p.Lys516=)
c.96+5256G=
c.237G= (p.Lys79=)
n.35G=
c.*870G= (n.*870G=)
c.35G=
c.1578G= (p.Lys526=)
c.1473G= (p.Lys491=)
c.1464G= (p.Lys488=)
c.1425G= (p.Lys475=)
c.1371G= (p.Lys457=)
c.1275G= (p.Lys425=)
c.1245G= (p.Lys415=)
c.1170G= (p.Lys390=)
c.1068G= (p.Lys356=)
c.699G= (p.Lys233=)
 dbSNP

Number of alleles fetched