Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.179551435G>TCA33692937AXDND1,NPHS2c.686C>A (p.Ala229Glu)
c.890C>A (p.Ala297Glu)
c.3032-3077G>T (p.=)
n.3152-3077G>T
c.713C>A (p.Ala238Glu)
c.3038-3077G>T (p.=)
c.2975-3077G>T (p.=)
c.2930-3077G>T (p.=)
c.2912-3077G>T (p.=)
c.2816-3077G>T (p.=)
c.2810-3077G>T (p.=)
c.2741-3077G>T (p.=)
c.2402-3077G>T (p.=)
c.1961-3077G>T (p.=)
c.2297-3077G>T (p.=)
c.2159-3077G>T (p.=)
c.557C>A (p.Ala186Glu)
n.3080-3077G>T
n.2612-3077G>T (p.=)
c.*1011-3077G>T (p.=)
n.471-3077G>T
n.911-3077G>T
n.369G>T
c.*1301-3077G>T (p.=)
c.*1207-3077G>T (p.=)
dbSNP
1g.179551435G>ACA1267067AXDND1,NPHS2c.686C>T (p.Ala229Val)
c.890C>T (p.Ala297Val)
c.3032-3077G>A (p.=)
n.3152-3077G>A
c.713C>T (p.Ala238Val)
c.3038-3077G>A (p.=)
c.2975-3077G>A (p.=)
c.2930-3077G>A (p.=)
c.2912-3077G>A (p.=)
c.2816-3077G>A (p.=)
c.2810-3077G>A (p.=)
c.2741-3077G>A (p.=)
c.2402-3077G>A (p.=)
c.1961-3077G>A (p.=)
c.2297-3077G>A (p.=)
c.2159-3077G>A (p.=)
c.557C>T (p.Ala186Val)
n.3080-3077G>A
n.2612-3077G>A (p.=)
c.*1011-3077G>A (p.=)
n.471-3077G>A
n.911-3077G>A
n.369G>A
c.*1301-3077G>A (p.=)
c.*1207-3077G>A (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched