Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47974090G>ACA204551COL2A1c.4316C>T (p.Thr1439Met)
c.4109C>T (p.Thr1370Met)
c.4460C>T (p.Thr1487Met)
c.4457C>T (p.Thr1486Met)
c.3404C>T (p.Thr1135Met)
c.4250C>T (p.Thr1417Met)
c.3770C>T (p.Thr1257Met)
n.4109C>T (p.Thr1370Met)
n.3402C>T
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
12g.47974090G>TCA6534505COL2A1c.4316C>A (p.Thr1439Lys)
c.4109C>A (p.Thr1370Lys)
c.4460C>A (p.Thr1487Lys)
c.4457C>A (p.Thr1486Lys)
c.3404C>A (p.Thr1135Lys)
c.4250C>A (p.Thr1417Lys)
c.3770C>A (p.Thr1257Lys)
n.4109C>A (p.Thr1370Lys)
n.3402C>A
dbSNP ExAC

Number of alleles fetched