| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143924012G>A | CA340759 | PLEC | c.6049C>T (p.Arg2017Trp) c.5968C>T (p.Arg1990Trp) c.5635C>T (p.Arg1879Trp) c.5848C>T (p.Arg1950Trp) c.5917C>T (p.Arg1973Trp) c.4126-1617C>T (n.4126-1617C>T) c.6328C>T (p.Arg2110Trp) c.5851C>T (p.Arg1951Trp) c.5875C>T (p.Arg1959Trp) c.5929C>T (p.Arg1977Trp) c.5821C>T (p.Arg1941Trp) c.5998C>T (p.Arg2000Trp) c.5986C>T (p.Arg1996Trp) c.135-1617C>T c.6343C>T (p.Arg2115Trp) c.5944C>T (p.Arg1982Trp) c.5932C>T (p.Arg1978Trp) c.5890C>T (p.Arg1964Trp) c.5866C>T (p.Arg1956Trp) c.5836C>T (p.Arg1946Trp) c.6013C>T (p.Arg2005Trp) c.5863C>T (p.Arg1955Trp) c.4072-1617C>T (n.4072-1617C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143924012G>T | CA4926197 | PLEC | c.6049C>A (p.Arg2017=) c.5968C>A (p.Arg1990=) c.5635C>A (p.Arg1879=) c.5848C>A (p.Arg1950=) c.5917C>A (p.Arg1973=) c.4126-1617C>A (n.4126-1617C>A) c.6328C>A (p.Arg2110=) c.5851C>A (p.Arg1951=) c.5875C>A (p.Arg1959=) c.5929C>A (p.Arg1977=) c.5821C>A (p.Arg1941=) c.5998C>A (p.Arg2000=) c.5986C>A (p.Arg1996=) c.135-1617C>A c.6343C>A (p.Arg2115=) c.5944C>A (p.Arg1982=) c.5932C>A (p.Arg1978=) c.5890C>A (p.Arg1964=) c.5866C>A (p.Arg1956=) c.5836C>A (p.Arg1946=) c.6013C>A (p.Arg2005=) c.5863C>A (p.Arg1955=) c.4072-1617C>A (n.4072-1617C>A) | dbSNP ExAC gnomAD v4 |
| 8 | g.143924012G>C | CA372540795 | PLEC | c.6049C>G (p.Arg2017Gly) c.5968C>G (p.Arg1990Gly) c.5635C>G (p.Arg1879Gly) c.5848C>G (p.Arg1950Gly) c.5917C>G (p.Arg1973Gly) c.4126-1617C>G (n.4126-1617C>G) c.6328C>G (p.Arg2110Gly) c.5851C>G (p.Arg1951Gly) c.5875C>G (p.Arg1959Gly) c.5929C>G (p.Arg1977Gly) c.5821C>G (p.Arg1941Gly) c.5998C>G (p.Arg2000Gly) c.5986C>G (p.Arg1996Gly) c.135-1617C>G c.6343C>G (p.Arg2115Gly) c.5944C>G (p.Arg1982Gly) c.5932C>G (p.Arg1978Gly) c.5890C>G (p.Arg1964Gly) c.5866C>G (p.Arg1956Gly) c.5836C>G (p.Arg1946Gly) c.6013C>G (p.Arg2005Gly) c.5863C>G (p.Arg1955Gly) c.4072-1617C>G (n.4072-1617C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |