| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.31393927T>A | CA704960062 | HEATR5A | c.772+125A>T (n.772+125A>T) c.*868+125A>T (n.*868+125A>T) | dbSNP gnomAD v4 |
| 14 | g.31393927T>C | CA258630338 | HEATR5A | c.772+125A>G (n.772+125A>G) c.*868+125A>G (n.*868+125A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393927T= | CA2127219184 | HEATR5A | c.772+125A= (n.772+125A=) c.*868+125A= (n.*868+125A=) | |
| 14 | g.31393928G>A | CA258630343 | HEATR5A | c.772+124C>T (n.772+124C>T) c.*868+124C>T (n.*868+124C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393928G>C | CA2624480659 | HEATR5A | c.772+124C>G (n.772+124C>G) c.*868+124C>G (n.*868+124C>G) | gnomAD v4 |
| 14 | g.31393928G= | CA2127219185 | HEATR5A | c.772+124C= (n.772+124C=) c.*868+124C= (n.*868+124C=) | |
| 14 | g.31393928G>T | CA2624480660 | HEATR5A | c.772+124C>A (n.772+124C>A) c.*868+124C>A (n.*868+124C>A) | gnomAD v4 |
| 14 | g.31393929T>C | CA2624480661 | HEATR5A | c.772+123A>G (n.772+123A>G) c.*868+123A>G (n.*868+123A>G) | gnomAD v4 |
| 14 | g.31393929T>G | CA2624480662 | HEATR5A | c.772+123A>C (n.772+123A>C) c.*868+123A>C (n.*868+123A>C) | gnomAD v4 |
| 14 | g.31393930del | CA2729480353 | HEATR5A | c.772+122del (n.772+122del) c.*868+122del (n.*868+122del) | dbSNP |
| 14 | g.31393930G>A | CA2127219187 | HEATR5A | c.772+122C>T (n.772+122C>T) c.*868+122C>T (n.*868+122C>T) | dbSNP gnomAD v4 |
| 14 | g.31393930G= | CA2127219186 | HEATR5A | c.772+122C= (n.772+122C=) c.*868+122C= (n.*868+122C=) | |
| 14 | g.31393930G>T | CA2624480663 | HEATR5A | c.772+122C>A (n.772+122C>A) c.*868+122C>A (n.*868+122C>A) | gnomAD v4 |
| 14 | g.31393931A= | CA2127219188 | HEATR5A | c.772+121T= (n.772+121T=) c.*868+121T= (n.*868+121T=) | |
| 14 | g.31393931A>G | CA2127219189 | HEATR5A | c.772+121T>C (n.772+121T>C) c.*868+121T>C (n.*868+121T>C) | dbSNP gnomAD v4 |
| 14 | g.31393931A>T | CA2624480664 | HEATR5A | c.772+121T>A (n.772+121T>A) c.*868+121T>A (n.*868+121T>A) | gnomAD v4 |
| 14 | g.31393932G>A | CA2624480665 | HEATR5A | c.772+120C>T (n.772+120C>T) c.*868+120C>T (n.*868+120C>T) | gnomAD v4 |
| 14 | g.31393932G>C | CA2624480666 | HEATR5A | c.772+120C>G (n.772+120C>G) c.*868+120C>G (n.*868+120C>G) | gnomAD v4 |
| 14 | g.31393932G>T | CA2624480667 | HEATR5A | c.772+120C>A (n.772+120C>A) c.*868+120C>A (n.*868+120C>A) | gnomAD v4 |
| 14 | g.31393933C>A | CA2624480669 | HEATR5A | c.772+119G>T (n.772+119G>T) c.*868+119G>T (n.*868+119G>T) | gnomAD v4 |
| 14 | g.31393933C>T | CA2624480668 | HEATR5A | c.772+119G>A (n.772+119G>A) c.*868+119G>A (n.*868+119G>A) | gnomAD v4 |
| 14 | g.31393934C>A | CA2624480670 | HEATR5A | c.772+118G>T (n.772+118G>T) c.*868+118G>T (n.*868+118G>T) | gnomAD v4 |
| 14 | g.31393934C>G | CA2624480671 | HEATR5A | c.772+118G>C (n.772+118G>C) c.*868+118G>C (n.*868+118G>C) | gnomAD v4 |
| 14 | g.31393934C>T | CA2624480672 | HEATR5A | c.772+118G>A (n.772+118G>A) c.*868+118G>A (n.*868+118G>A) | gnomAD v4 |
| 14 | g.31393935A>C | CA2624480673 | HEATR5A | c.772+117T>G (n.772+117T>G) c.*868+117T>G (n.*868+117T>G) | gnomAD v4 |
| 14 | g.31393935A>T | CA2624480674 | HEATR5A | c.772+117T>A (n.772+117T>A) c.*868+117T>A (n.*868+117T>A) | gnomAD v4 |
| 14 | g.31393936C>A | CA2624480675 | HEATR5A | c.772+116G>T (n.772+116G>T) c.*868+116G>T (n.*868+116G>T) | gnomAD v4 |
| 14 | g.31393936C= | CA2127219190 | HEATR5A | c.772+116G= (n.772+116G=) c.*868+116G= (n.*868+116G=) | |
| 14 | g.31393936C>G | CA2127219191 | HEATR5A | c.772+116G>C (n.772+116G>C) c.*868+116G>C (n.*868+116G>C) | dbSNP gnomAD v4 |
| 14 | g.31393936C>T | CA258630346 | HEATR5A | c.772+116G>A (n.772+116G>A) c.*868+116G>A (n.*868+116G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393937C>A | CA2532271395 | HEATR5A | c.772+115G>T (n.772+115G>T) c.*868+115G>T (n.*868+115G>T) | gnomAD v4 |
| 14 | g.31393937C>T | CA961631942 | HEATR5A | c.772+115G>A (n.772+115G>A) c.*868+115G>A (n.*868+115G>A) | gnomAD v3 gnomAD v4 |
| 14 | g.31393938A>C | CA2624480676 | HEATR5A | c.772+114T>G (n.772+114T>G) c.*868+114T>G (n.*868+114T>G) | gnomAD v4 |
| 14 | g.31393938A>G | CA961631943 | HEATR5A | c.772+114T>C (n.772+114T>C) c.*868+114T>C (n.*868+114T>C) | gnomAD v3 gnomAD v4 |
| 14 | g.31393938A>T | CA2624480677 | HEATR5A | c.772+114T>A (n.772+114T>A) c.*868+114T>A (n.*868+114T>A) | gnomAD v4 |
| 14 | g.31393939T>A | CA2624480679 | HEATR5A | c.772+113A>T (n.772+113A>T) c.*868+113A>T (n.*868+113A>T) | gnomAD v4 |
| 14 | g.31393939T>C | CA961631945 | HEATR5A | c.772+113A>G (n.772+113A>G) c.*868+113A>G (n.*868+113A>G) | gnomAD v3 gnomAD v4 |
| 14 | g.31393939T>G | CA2624480678 | HEATR5A | c.772+113A>C (n.772+113A>C) c.*868+113A>C (n.*868+113A>C) | gnomAD v4 |
| 14 | g.31393940G>A | CA2624480682 | HEATR5A | c.772+112C>T (n.772+112C>T) c.*868+112C>T (n.*868+112C>T) | gnomAD v4 |
| 14 | g.31393940G>C | CA2624480680 | HEATR5A | c.772+112C>G (n.772+112C>G) c.*868+112C>G (n.*868+112C>G) | gnomAD v4 |
| 14 | g.31393940G>T | CA2624480681 | HEATR5A | c.772+112C>A (n.772+112C>A) c.*868+112C>A (n.*868+112C>A) | gnomAD v4 |
| 14 | g.31393941C>A | CA2624480683 | HEATR5A | c.772+111G>T (n.772+111G>T) c.*868+111G>T (n.*868+111G>T) | gnomAD v4 |
| 14 | g.31393941C= | CA2127219192 | HEATR5A | c.772+111G= (n.772+111G=) c.*868+111G= (n.*868+111G=) | |
| 14 | g.31393941C>G | CA961631951 | HEATR5A | c.772+111G>C (n.772+111G>C) c.*868+111G>C (n.*868+111G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393941C>T | CA2624480684 | HEATR5A | c.772+111G>A (n.772+111G>A) c.*868+111G>A (n.*868+111G>A) | gnomAD v4 |
| 14 | g.31393942C>A | CA2624480685 | HEATR5A | c.772+110G>T (n.772+110G>T) c.*868+110G>T (n.*868+110G>T) | gnomAD v4 |
| 14 | g.31393942C>T | CA2624480686 | HEATR5A | c.772+110G>A (n.772+110G>A) c.*868+110G>A (n.*868+110G>A) | gnomAD v4 |
| 14 | g.31393943T>C | CA2624480687 | HEATR5A | c.772+109A>G (n.772+109A>G) c.*868+109A>G (n.*868+109A>G) | gnomAD v4 |
| 14 | g.31393944G>A | CA704960066 | HEATR5A | c.772+108C>T (n.772+108C>T) c.*868+108C>T (n.*868+108C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393944G>C | CA2624480688 | HEATR5A | c.772+108C>G (n.772+108C>G) c.*868+108C>G (n.*868+108C>G) | gnomAD v4 |