Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50712288G>TCA395872024NOD2c.2296G>T (p.Val766Leu)
c.95G>T
c.2377G>T (p.Val793Leu)
c.1873G>T (p.Val625Leu)
c.1711G>T (p.Val571Leu)
n.2386G>T
c.1804G>T (p.Val602Leu)
n.2339G>T
n.2361G>T
dbSNP gnomAD v2 gnomAD v4
16g.50712288G>ACA150265NOD2c.2296G>A (p.Val766Met)
c.95G>A
c.2377G>A (p.Val793Met)
c.1873G>A (p.Val625Met)
c.1711G>A (p.Val571Met)
n.2386G>A
c.1804G>A (p.Val602Met)
n.2339G>A
n.2361G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712288G>CCA395872022NOD2c.2296G>C (p.Val766Leu)
c.95G>C
c.2377G>C (p.Val793Leu)
c.1873G>C (p.Val625Leu)
c.1711G>C (p.Val571Leu)
n.2386G>C
c.1804G>C (p.Val602Leu)
n.2339G>C
n.2361G>C
dbSNP gnomAD v4
16g.50712288G=CA2221862998NOD2c.2296G= (p.Val766=)
c.95G=
c.2377G= (p.Val793=)
c.1873G= (p.Val625=)
c.1711G= (p.Val571=)
n.2386G=
c.1804G= (p.Val602=)
n.2339G=
n.2361G=
dbSNP

Number of alleles fetched