| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237364398C>A | CA295311 | COL6A3 | c.5251G>T (p.Gly1751Ter) c.5869G>T (p.Gly1957Ter) c.4048G>T (p.Gly1350Ter) c.5269G>T (p.Gly1757Ter) c.4648G>T (p.Gly1550Ter) c.5368G>T (p.Gly1790Ter) c.5866G>T (p.Gly1956Ter) c.3463G>T (p.Gly1155Ter) | dbSNP |
| 2 | g.237364398C>T | CA2188547 | COL6A3 | c.5251G>A (p.Gly1751Arg) c.5869G>A (p.Gly1957Arg) c.4048G>A (p.Gly1350Arg) c.5269G>A (p.Gly1757Arg) c.4648G>A (p.Gly1550Arg) c.5368G>A (p.Gly1790Arg) c.5866G>A (p.Gly1956Arg) c.3463G>A (p.Gly1155Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237364398C>G | CA351219863 | COL6A3 | c.5251G>C (p.Gly1751Arg) c.5869G>C (p.Gly1957Arg) c.4048G>C (p.Gly1350Arg) c.5269G>C (p.Gly1757Arg) c.4648G>C (p.Gly1550Arg) c.5368G>C (p.Gly1790Arg) c.5866G>C (p.Gly1956Arg) c.3463G>C (p.Gly1155Arg) | dbSNP gnomAD v4 |
| 2 | g.237364398C= | CA1337619743 | COL6A3 | c.5251G= (p.Gly1751=) c.5869G= (p.Gly1957=) c.4048G= (p.Gly1350=) c.5269G= (p.Gly1757=) c.4648G= (p.Gly1550=) c.5368G= (p.Gly1790=) c.5866G= (p.Gly1956=) c.3463G= (p.Gly1155=) | dbSNP |