| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45504330_45504333dup | CA749787474 | COL18A1,SLC19A1 | c.3268-86_3268-83dup (p.=) c.2728-86_2728-83dup (p.=) n.769-86_769-83dup (p.=) n.3973-86_3973-83dup (p.=) n.498-5721_498-5718dup c.1294-5721_1294-5718dup (p.=) c.3973-86_3973-83dup (p.=) c.1585-1364_1585-1361dup (p.=) | dbSNP |
| 21 | g.45504331C= | CA2392190603 | COL18A1,SLC19A1 | c.3268-85C= (p.=) c.2728-85C= (p.=) n.769-85C= (p.=) n.3973-85C= (p.=) n.498-5719G= c.1294-5719G= (p.=) c.3973-85C= (p.=) c.1585-1362G= (p.=) | |
| 21 | g.45504331C>T | CA749787476 | COL18A1,SLC19A1 | c.3268-85C>T (p.=) c.2728-85C>T (p.=) n.769-85C>T (p.=) n.3973-85C>T (p.=) n.498-5719G>A c.1294-5719G>A (p.=) c.3973-85C>T (p.=) c.1585-1362G>A (p.=) | |
| 21 | g.45504332C= | CA2392190604 | COL18A1,SLC19A1 | c.3268-84C= (p.=) c.2728-84C= (p.=) n.769-84C= (p.=) n.3973-84C= (p.=) n.498-5720G= c.1294-5720G= (p.=) c.3973-84C= (p.=) c.1585-1363G= (p.=) | |
| 21 | g.45504332C>T | CA2392190605 | COL18A1,SLC19A1 | c.3268-84C>T (p.=) c.2728-84C>T (p.=) n.769-84C>T (p.=) n.3973-84C>T (p.=) n.498-5720G>A c.1294-5720G>A (p.=) c.3973-84C>T (p.=) c.1585-1363G>A (p.=) | |
| 21 | g.45504335G>A | CA2392190607 | COL18A1,SLC19A1 | c.3268-81G>A (p.=) c.2728-81G>A (p.=) n.769-81G>A (p.=) n.3973-81G>A (p.=) n.498-5723C>T c.1294-5723C>T (p.=) c.3973-81G>A (p.=) c.1585-1366C>T (p.=) | |
| 21 | g.45504335G= | CA2392190606 | COL18A1,SLC19A1 | c.3268-81G= (p.=) c.2728-81G= (p.=) n.769-81G= (p.=) n.3973-81G= (p.=) n.498-5723C= c.1294-5723C= (p.=) c.3973-81G= (p.=) c.1585-1366C= (p.=) | |
| 21 | g.45504341G>A | CA657672964 | COL18A1,SLC19A1 | c.3268-75G>A (p.=) c.2728-75G>A (p.=) n.769-75G>A (p.=) n.3973-75G>A (p.=) n.498-5729C>T c.1294-5729C>T (p.=) c.3973-75G>A (p.=) c.1585-1372C>T (p.=) | COSMIC |
| 21 | g.45504344C>A | CA321921200 | COL18A1,SLC19A1 | c.3268-72C>A (p.=) c.2728-72C>A (p.=) n.769-72C>A (p.=) n.3973-72C>A (p.=) n.498-5732G>T c.1294-5732G>T (p.=) c.3973-72C>A (p.=) c.1585-1375G>T (p.=) | dbSNP gnomAD |
| 21 | g.45504344C= | CA2392190608 | COL18A1,SLC19A1 | c.3268-72C= (p.=) c.2728-72C= (p.=) n.769-72C= (p.=) n.3973-72C= (p.=) n.498-5732G= c.1294-5732G= (p.=) c.3973-72C= (p.=) c.1585-1375G= (p.=) | |
| 21 | g.45504344C>T | CA321921201 | COL18A1,SLC19A1 | c.3268-72C>T (p.=) c.2728-72C>T (p.=) n.769-72C>T (p.=) n.3973-72C>T (p.=) n.498-5732G>A c.1294-5732G>A (p.=) c.3973-72C>T (p.=) c.1585-1375G>A (p.=) | dbSNP |
| 21 | g.45504345G>A | CA321921202 | COL18A1,SLC19A1 | c.3268-71G>A (p.=) c.2728-71G>A (p.=) n.769-71G>A (p.=) n.3973-71G>A (p.=) n.498-5733C>T c.1294-5733C>T (p.=) c.3973-71G>A (p.=) c.1585-1376C>T (p.=) | dbSNP gnomAD |
| 21 | g.45504345G= | CA2392190610 | COL18A1,SLC19A1 | c.3268-71G= (p.=) c.2728-71G= (p.=) n.769-71G= (p.=) n.3973-71G= (p.=) n.498-5733C= c.1294-5733C= (p.=) c.3973-71G= (p.=) c.1585-1376C= (p.=) | |
| 21 | g.45504345G>T | CA749787479 | COL18A1,SLC19A1 | c.3268-71G>T (p.=) c.2728-71G>T (p.=) n.769-71G>T (p.=) n.3973-71G>T (p.=) n.498-5733C>A c.1294-5733C>A (p.=) c.3973-71G>T (p.=) c.1585-1376C>A (p.=) | |
| 21 | g.45504350dup | CA2392190609 | COL18A1,SLC19A1 | c.3268-66dup (p.=) c.2728-66dup (p.=) n.769-66dup (p.=) n.3973-66dup (p.=) n.498-5733dup c.1294-5733dup (p.=) c.3973-66dup (p.=) c.1585-1376dup (p.=) | dbSNP |
| 21 | g.45504346G>A | CA1022823673 | COL18A1,SLC19A1 | c.3268-70G>A (p.=) c.2728-70G>A (p.=) n.769-70G>A (p.=) n.3973-70G>A (p.=) n.498-5734C>T c.1294-5734C>T (p.=) c.3973-70G>A (p.=) c.1585-1377C>T (p.=) | |
| 21 | g.45504346G= | CA2392190611 | COL18A1,SLC19A1 | c.3268-70G= (p.=) c.2728-70G= (p.=) n.769-70G= (p.=) n.3973-70G= (p.=) n.498-5734C= c.1294-5734C= (p.=) c.3973-70G= (p.=) c.1585-1377C= (p.=) | |
| 21 | g.45504347G>A | CA2392190613 | COL18A1,SLC19A1 | c.3268-69G>A (p.=) c.2728-69G>A (p.=) n.769-69G>A (p.=) n.3973-69G>A (p.=) n.498-5735C>T c.1294-5735C>T (p.=) c.3973-69G>A (p.=) c.1585-1378C>T (p.=) | |
| 21 | g.45504347G= | CA2392190612 | COL18A1,SLC19A1 | c.3268-69G= (p.=) c.2728-69G= (p.=) n.769-69G= (p.=) n.3973-69G= (p.=) n.498-5735C= c.1294-5735C= (p.=) c.3973-69G= (p.=) c.1585-1378C= (p.=) | |
| 21 | g.45504348G>A | CA321921203 | COL18A1,SLC19A1 | c.3268-68G>A (p.=) c.2728-68G>A (p.=) n.769-68G>A (p.=) n.3973-68G>A (p.=) n.498-5736C>T c.1294-5736C>T (p.=) c.3973-68G>A (p.=) c.1585-1379C>T (p.=) | dbSNP |
| 21 | g.45504348G= | CA2392190614 | COL18A1,SLC19A1 | c.3268-68G= (p.=) c.2728-68G= (p.=) n.769-68G= (p.=) n.3973-68G= (p.=) n.498-5736C= c.1294-5736C= (p.=) c.3973-68G= (p.=) c.1585-1379C= (p.=) | |
| 21 | g.45504349G= | CA2392190615 | COL18A1,SLC19A1 | c.3268-67G= (p.=) c.2728-67G= (p.=) n.769-67G= (p.=) n.3973-67G= (p.=) n.498-5737C= c.1294-5737C= (p.=) c.3973-67G= (p.=) c.1585-1380C= (p.=) | |
| 21 | g.45504349G>T | CA2392190616 | COL18A1,SLC19A1 | c.3268-67G>T (p.=) c.2728-67G>T (p.=) n.769-67G>T (p.=) n.3973-67G>T (p.=) n.498-5737C>A c.1294-5737C>A (p.=) c.3973-67G>T (p.=) c.1585-1380C>A (p.=) | |
| 21 | g.45504350G>A | CA1022823678 | COL18A1,SLC19A1 | c.3268-66G>A (p.=) c.2728-66G>A (p.=) n.769-66G>A (p.=) n.3973-66G>A (p.=) n.498-5738C>T c.1294-5738C>T (p.=) c.3973-66G>A (p.=) c.1585-1381C>T (p.=) | |
| 21 | g.45504350G= | CA2392190617 | COL18A1,SLC19A1 | c.3268-66G= (p.=) c.2728-66G= (p.=) n.769-66G= (p.=) n.3973-66G= (p.=) n.498-5738C= c.1294-5738C= (p.=) c.3973-66G= (p.=) c.1585-1381C= (p.=) | |
| 21 | g.45504358G>A | CA321921204 | COL18A1,SLC19A1 | c.3268-58G>A (p.=) c.2728-58G>A (p.=) n.769-58G>A (p.=) n.3973-58G>A (p.=) n.498-5746C>T c.1294-5746C>T (p.=) c.3973-58G>A (p.=) c.1585-1389C>T (p.=) | dbSNP |
| 21 | g.45504358G= | CA2392190618 | COL18A1,SLC19A1 | c.3268-58G= (p.=) c.2728-58G= (p.=) n.769-58G= (p.=) n.3973-58G= (p.=) n.498-5746C= c.1294-5746C= (p.=) c.3973-58G= (p.=) c.1585-1389C= (p.=) | |
| 21 | g.45504359C= | CA2392190619 | COL18A1,SLC19A1 | c.3268-57C= (p.=) c.2728-57C= (p.=) n.769-57C= (p.=) n.3973-57C= (p.=) n.498-5747G= c.1294-5747G= (p.=) c.3973-57C= (p.=) c.1585-1390G= (p.=) | |
| 21 | g.45504359C>T | CA749787480 | COL18A1,SLC19A1 | c.3268-57C>T (p.=) c.2728-57C>T (p.=) n.769-57C>T (p.=) n.3973-57C>T (p.=) n.498-5747G>A c.1294-5747G>A (p.=) c.3973-57C>T (p.=) c.1585-1390G>A (p.=) | |
| 21 | g.45504362C= | CA2392190620 | COL18A1,SLC19A1 | c.3268-54C= (p.=) c.2728-54C= (p.=) n.769-54C= (p.=) n.3973-54C= (p.=) n.498-5750G= c.1294-5750G= (p.=) c.3973-54C= (p.=) c.1585-1393G= (p.=) | |
| 21 | g.45504362C>T | CA749787482 | COL18A1,SLC19A1 | c.3268-54C>T (p.=) c.2728-54C>T (p.=) n.769-54C>T (p.=) n.3973-54C>T (p.=) n.498-5750G>A c.1294-5750G>A (p.=) c.3973-54C>T (p.=) c.1585-1393G>A (p.=) | |
| 21 | g.45504364T>G | CA1022823686 | COL18A1,SLC19A1 | c.3268-52T>G (p.=) c.2728-52T>G (p.=) n.769-52T>G (p.=) n.3973-52T>G (p.=) n.498-5752A>C c.1294-5752A>C (p.=) c.3973-52T>G (p.=) c.1585-1395A>C (p.=) | |
| 21 | g.45504364T= | CA2392190621 | COL18A1,SLC19A1 | c.3268-52T= (p.=) c.2728-52T= (p.=) n.769-52T= (p.=) n.3973-52T= (p.=) n.498-5752A= c.1294-5752A= (p.=) c.3973-52T= (p.=) c.1585-1395A= (p.=) | |
| 21 | g.45504365G>A | CA657672967 | COL18A1,SLC19A1 | c.3268-51G>A (p.=) c.2728-51G>A (p.=) n.769-51G>A (p.=) n.3973-51G>A (p.=) n.498-5753C>T c.1294-5753C>T (p.=) c.3973-51G>A (p.=) c.1585-1396C>T (p.=) | COSMIC |
| 21 | g.45504365G= | CA2392190622 | COL18A1,SLC19A1 | c.3268-51G= (p.=) c.2728-51G= (p.=) n.769-51G= (p.=) n.3973-51G= (p.=) n.498-5753C= c.1294-5753C= (p.=) c.3973-51G= (p.=) c.1585-1396C= (p.=) | |
| 21 | g.45504369C= | CA2392190623 | COL18A1,SLC19A1 | c.3268-47C= (p.=) c.2728-47C= (p.=) n.769-47C= (p.=) n.3973-47C= (p.=) n.498-5757G= c.1294-5757G= (p.=) c.3973-47C= (p.=) c.1585-1400G= (p.=) | |
| 21 | g.45504369C>G | CA638497324 | COL18A1,SLC19A1 | c.3268-47C>G (p.=) c.2728-47C>G (p.=) n.769-47C>G (p.=) n.3973-47C>G (p.=) n.498-5757G>C c.1294-5757G>C (p.=) c.3973-47C>G (p.=) c.1585-1400G>C (p.=) | gnomAD |
| 21 | g.45504372G>A | CA1022823691 | COL18A1,SLC19A1 | c.3268-44G>A (p.=) c.2728-44G>A (p.=) n.769-44G>A (p.=) n.3973-44G>A (p.=) n.498-5760C>T c.1294-5760C>T (p.=) c.3973-44G>A (p.=) c.1585-1403C>T (p.=) | |
| 21 | g.45504372G>C | CA321921205 | COL18A1,SLC19A1 | c.3268-44G>C (p.=) c.2728-44G>C (p.=) n.769-44G>C (p.=) n.3973-44G>C (p.=) n.498-5760C>G c.1294-5760C>G (p.=) c.3973-44G>C (p.=) c.1585-1403C>G (p.=) | dbSNP |
| 21 | g.45504372G= | CA2392190624 | COL18A1,SLC19A1 | c.3268-44G= (p.=) c.2728-44G= (p.=) n.769-44G= (p.=) n.3973-44G= (p.=) n.498-5760C= c.1294-5760C= (p.=) c.3973-44G= (p.=) c.1585-1403C= (p.=) | |
| 21 | g.45504372G>T | CA10067421 | COL18A1,SLC19A1 | c.3268-44G>T (p.=) c.2728-44G>T (p.=) n.769-44G>T (p.=) n.3973-44G>T (p.=) n.498-5760C>A c.1294-5760C>A (p.=) c.3973-44G>T (p.=) c.1585-1403C>A (p.=) | dbSNP ExAC gnomAD |
| 21 | g.45504373T>C | CA10067422 | COL18A1,SLC19A1 | c.3268-43T>C (p.=) c.2728-43T>C (p.=) n.769-43T>C (p.=) n.3973-43T>C (p.=) n.498-5761A>G c.1294-5761A>G (p.=) c.3973-43T>C (p.=) c.1585-1404A>G (p.=) | dbSNP ExAC gnomAD |
| 21 | g.45504373T= | CA2392190625 | COL18A1,SLC19A1 | c.3268-43T= (p.=) c.2728-43T= (p.=) n.769-43T= (p.=) n.3973-43T= (p.=) n.498-5761A= c.1294-5761A= (p.=) c.3973-43T= (p.=) c.1585-1404A= (p.=) | |
| 21 | g.45504373dup | CA1022823692 | COL18A1,SLC19A1 | c.3268-43dup (p.=) c.2728-43dup (p.=) n.769-43dup (p.=) n.3973-43dup (p.=) n.498-5761dup c.1294-5761dup (p.=) c.3973-43dup (p.=) c.1585-1404dup (p.=) | dbSNP |
| 21 | g.45504374A= | CA2392190626 | COL18A1,SLC19A1 | c.3268-42A= (p.=) c.2728-42A= (p.=) n.769-42A= (p.=) n.3973-42A= (p.=) n.498-5762T= c.1294-5762T= (p.=) c.3973-42A= (p.=) c.1585-1405T= (p.=) | |
| 21 | g.45504374A>G | CA10067423 | COL18A1,SLC19A1 | c.3268-42A>G (p.=) c.2728-42A>G (p.=) n.769-42A>G (p.=) n.3973-42A>G (p.=) n.498-5762T>C c.1294-5762T>C (p.=) c.3973-42A>G (p.=) c.1585-1405T>C (p.=) | dbSNP ExAC gnomAD |
| 21 | g.45504374A>T | CA638497325 | COL18A1,SLC19A1 | c.3268-42A>T (p.=) c.2728-42A>T (p.=) n.769-42A>T (p.=) n.3973-42A>T (p.=) n.498-5762T>A c.1294-5762T>A (p.=) c.3973-42A>T (p.=) c.1585-1405T>A (p.=) | gnomAD |
| 21 | g.45504374dup | CA638497326 | COL18A1,SLC19A1 | c.3268-42dup (p.=) c.2728-42dup (p.=) n.769-42dup (p.=) n.3973-42dup (p.=) n.498-5762dup c.1294-5762dup (p.=) c.3973-42dup (p.=) c.1585-1405dup (p.=) | dbSNP gnomAD |
| 21 | g.45504375G>A | CA638497327 | COL18A1,SLC19A1 | c.3268-41G>A (p.=) c.2728-41G>A (p.=) n.769-41G>A (p.=) n.3973-41G>A (p.=) n.498-5763C>T c.1294-5763C>T (p.=) c.3973-41G>A (p.=) c.1585-1406C>T (p.=) | gnomAD |
| 21 | g.45504375G= | CA2392190627 | COL18A1,SLC19A1 | c.3268-41G= (p.=) c.2728-41G= (p.=) n.769-41G= (p.=) n.3973-41G= (p.=) n.498-5763C= c.1294-5763C= (p.=) c.3973-41G= (p.=) c.1585-1406C= (p.=) |