| 12 | g.109803009G>A | CA204953 | TRPV4 | c.694C>T (p.Arg232Cys)
n.725C>T
c.592C>T (p.Arg198Cys)
c.847C>T (p.Arg283Cys)
| ClinVar dbSNP gnomAD v4 |
| 12 | g.109803009G>T | CA386656000 | TRPV4 | c.694C>A (p.Arg232Ser)
n.725C>A
c.592C>A (p.Arg198Ser)
c.847C>A (p.Arg283Ser)
| ClinVar dbSNP |
