| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
| 2 | g.188994964_188998496del | CA285891 | COL3A1 | c.1357-82_1879-178del c.1456-82_1978-178del | ClinVar |
| 2 | g.188996168del | CA16610593 | COL3A1 | c.1553del (p.Pro518GlnfsTer?) c.1652del (p.Pro551GlnfsTer?) | ClinVar dbSNP |
| 2 | g.188996168C>A | CA349852507 | COL3A1 | c.1553C>A (p.Pro518Gln) c.1652C>A (p.Pro551Gln) | |
| 2 | g.188996168C= | CA1315399295 | COL3A1 | c.1553C= (p.Pro518=) c.1652C= (p.Pro551=) | |
| 2 | g.188996168C>G | CA349852508 | COL3A1 | c.1553C>G (p.Pro518Arg) c.1652C>G (p.Pro551Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.188996168C>T | CA62597376 | COL3A1 | c.1553C>T (p.Pro518Leu) c.1652C>T (p.Pro551Leu) | ClinVar dbSNP |
| 2 | g.188996169A= | CA1315399296 | COL3A1 | c.1554A= (p.Pro518=) c.1653A= (p.Pro551=) | |
| 2 | g.188996169A>C | CA430309790 | COL3A1 | c.1554A>C (p.Pro518=) c.1653A>C (p.Pro551=) | |
| 2 | g.188996169A>G | CA430309791 | COL3A1 | c.1554A>G (p.Pro518=) c.1653A>G (p.Pro551=) | dbSNP gnomAD v4 |
| 2 | g.188996169A>T | CA430309792 | COL3A1 | c.1554A>T (p.Pro518=) c.1653A>T (p.Pro551=) | |
| 2 | g.188996170G>A | CA349852509 | COL3A1 | c.1555G>A (p.Gly519Arg) c.1654G>A (p.Gly552Arg) | ClinVar dbSNP |
| 2 | g.188996170G>C | CA349852510 | COL3A1 | c.1555G>C (p.Gly519Arg) c.1654G>C (p.Gly552Arg) | |
| 2 | g.188996170G= | CA1315399297 | COL3A1 | c.1555G= (p.Gly519=) c.1654G= (p.Gly552=) | |
| 2 | g.188996170G>T | CA349852511 | COL3A1 | c.1555G>T (p.Gly519Trp) c.1654G>T (p.Gly552Trp) | |
| 2 | g.188996171G>A | CA004390 | COL3A1 | c.1556G>A (p.Gly519Glu) c.1655G>A (p.Gly552Glu) | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.188996171G>C | CA349852512 | COL3A1 | c.1556G>C (p.Gly519Ala) c.1655G>C (p.Gly552Ala) | |
| 2 | g.188996171G= | CA1315399298 | COL3A1 | c.1556G= (p.Gly519=) c.1655G= (p.Gly552=) | |
| 2 | g.188996171G>T | CA349852513 | COL3A1 | c.1556G>T (p.Gly519Val) c.1655G>T (p.Gly552Val) | |
| 2 | g.188996172G>A | CA430309793 | COL3A1 | c.1557G>A (p.Gly519=) c.1656G>A (p.Gly552=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.188996172G>C | CA430309794 | COL3A1 | c.1557G>C (p.Gly519=) c.1656G>C (p.Gly552=) | |
| 2 | g.188996172G= | CA1315399299 | COL3A1 | c.1557G= (p.Gly519=) c.1656G= (p.Gly552=) | |
| 2 | g.188996172G>T | CA430309795 | COL3A1 | c.1557G>T (p.Gly519=) c.1656G>T (p.Gly552=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.188996173C>A | CA349852514 | COL3A1 | c.1558C>A (p.Pro520Thr) c.1657C>A (p.Pro553Thr) | gnomAD v4 |
| 2 | g.188996173C= | CA1315399300 | COL3A1 | c.1558C= (p.Pro520=) c.1657C= (p.Pro553=) | |
| 2 | g.188996173C>G | CA349852515 | COL3A1 | c.1558C>G (p.Pro520Ala) c.1657C>G (p.Pro553Ala) | |
| 2 | g.188996173C>T | CA074515 | COL3A1 | c.1558C>T (p.Pro520Ser) c.1657C>T (p.Pro553Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.188996174C>A | CA349852516 | COL3A1 | c.1559C>A (p.Pro520His) c.1658C>A (p.Pro553His) | dbSNP gnomAD v4 |
| 2 | g.188996174C= | CA1315399301 | COL3A1 | c.1559C= (p.Pro520=) c.1658C= (p.Pro553=) | |
| 2 | g.188996174C>G | CA349852518 | COL3A1 | c.1559C>G (p.Pro520Arg) c.1658C>G (p.Pro553Arg) | |
| 2 | g.188996174C>T | CA349852517 | COL3A1 | c.1559C>T (p.Pro520Leu) c.1658C>T (p.Pro553Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.188996175T>A | CA004397 | COL3A1 | c.1560T>A (p.Pro520=) c.1659T>A (p.Pro553=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.188996175T>C | CA430309796 | COL3A1 | c.1560T>C (p.Pro520=) c.1659T>C (p.Pro553=) | |
| 2 | g.188996175T>G | CA430309797 | COL3A1 | c.1560T>G (p.Pro520=) c.1659T>G (p.Pro553=) | dbSNP |
| 2 | g.188996175T= | CA1315399302 | COL3A1 | c.1560T= (p.Pro520=) c.1659T= (p.Pro553=) | |
| 2 | g.188996176C>A | CA349852521 | COL3A1 | c.1561C>A (p.Pro521Thr) c.1660C>A (p.Pro554Thr) | |
| 2 | g.188996176C= | CA1315399303 | COL3A1 | c.1561C= (p.Pro521=) c.1660C= (p.Pro554=) | |
| 2 | g.188996176C>G | CA349852519 | COL3A1 | c.1561C>G (p.Pro521Ala) c.1660C>G (p.Pro554Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.188996176C>T | CA349852520 | COL3A1 | c.1561C>T (p.Pro521Ser) c.1660C>T (p.Pro554Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.188996177C>A | CA349852522 | COL3A1 | c.1562C>A (p.Pro521His) c.1661C>A (p.Pro554His) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.188996177C= | CA1315399304 | COL3A1 | c.1562C= (p.Pro521=) c.1661C= (p.Pro554=) | |
| 2 | g.188996177C>G | CA349852523 | COL3A1 | c.1562C>G (p.Pro521Arg) c.1661C>G (p.Pro554Arg) | |
| 2 | g.188996177C>T | CA349852524 | COL3A1 | c.1562C>T (p.Pro521Leu) c.1661C>T (p.Pro554Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.188996178C>A | CA430309798 | COL3A1 | c.1563C>A (p.Pro521=) c.1662C>A (p.Pro554=) | dbSNP |
| 2 | g.188996178C= | CA1315399305 | COL3A1 | c.1563C= (p.Pro521=) c.1662C= (p.Pro554=) | |
| 2 | g.188996178C>G | CA62597390 | COL3A1 | c.1563C>G (p.Pro521=) c.1662C>G (p.Pro554=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.188996178C>T | CA074534 | COL3A1 | c.1563C>T (p.Pro521=) c.1662C>T (p.Pro554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.188996179G>A | CA004403 | COL3A1 | c.1563+1G>A (n.1563+1G>A) c.1662+1G>A (n.1662+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.188996179G>C | CA004410 | COL3A1 | c.1563+1G>C (n.1563+1G>C) c.1662+1G>C (n.1662+1G>C) | ClinVar dbSNP |
| 2 | g.188996179G= | CA1315399306 | COL3A1 | c.1563+1G= (n.1563+1G=) c.1662+1G= (n.1662+1G=) |