| 4 | g.37902468C>A | CA2887246 | TBC1D1 | c.373C>A (p.Arg125=)
c.-267+61C>A (n.-267+61C>A)
n.731C>A
| dbSNP ExAC gnomAD v2 |
| 4 | g.37902468C>T | CA2887245 | TBC1D1 | c.373C>T (p.Arg125Trp)
c.-267+61C>T (n.-267+61C>T)
n.731C>T
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
