| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.31393828T>C | CA258630304 | HEATR5A | c.772+224A>G (n.772+224A>G) c.*868+224A>G (n.*868+224A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393828T= | CA2127219144 | HEATR5A | c.772+224A= (n.772+224A=) c.*868+224A= (n.*868+224A=) | |
| 14 | g.31393833T>C | CA258630310 | HEATR5A | c.772+219A>G (n.772+219A>G) c.*868+219A>G (n.*868+219A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393833T= | CA2127219145 | HEATR5A | c.772+219A= (n.772+219A=) c.*868+219A= (n.*868+219A=) | |
| 14 | g.31393837C>A | CA2127219147 | HEATR5A | c.772+215G>T (n.772+215G>T) c.*868+215G>T (n.*868+215G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393837C= | CA2127219146 | HEATR5A | c.772+215G= (n.772+215G=) c.*868+215G= (n.*868+215G=) | |
| 14 | g.31393837C>T | CA613011979 | HEATR5A | c.772+215G>A (n.772+215G>A) c.*868+215G>A (n.*868+215G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393838G>A | CA258630313 | HEATR5A | c.772+214C>T (n.772+214C>T) c.*868+214C>T (n.*868+214C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393838G= | CA2127219148 | HEATR5A | c.772+214C= (n.772+214C=) c.*868+214C= (n.*868+214C=) | |
| 14 | g.31393838G>T | CA2127219149 | HEATR5A | c.772+214C>A (n.772+214C>A) c.*868+214C>A (n.*868+214C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393843T>C | CA961631860 | HEATR5A | c.772+209A>G (n.772+209A>G) c.*868+209A>G (n.*868+209A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393843T>G | CA258630315 | HEATR5A | c.772+209A>C (n.772+209A>C) c.*868+209A>C (n.*868+209A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393843T= | CA2127219150 | HEATR5A | c.772+209A= (n.772+209A=) c.*868+209A= (n.*868+209A=) | |
| 14 | g.31393844C= | CA2127219151 | HEATR5A | c.772+208G= (n.772+208G=) c.*868+208G= (n.*868+208G=) | |
| 14 | g.31393844C>T | CA2127219152 | HEATR5A | c.772+208G>A (n.772+208G>A) c.*868+208G>A (n.*868+208G>A) | dbSNP |
| 14 | g.31393847C= | CA2127219153 | HEATR5A | c.772+205G= (n.772+205G=) c.*868+205G= (n.*868+205G=) | |
| 14 | g.31393847C>T | CA258630317 | HEATR5A | c.772+205G>A (n.772+205G>A) c.*868+205G>A (n.*868+205G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393856C= | CA2127219154 | HEATR5A | c.772+196G= (n.772+196G=) c.*868+196G= (n.*868+196G=) | |
| 14 | g.31393856C>T | CA2127219155 | HEATR5A | c.772+196G>A (n.772+196G>A) c.*868+196G>A (n.*868+196G>A) | dbSNP |
| 14 | g.31393857A= | CA2127219156 | HEATR5A | c.772+195T= (n.772+195T=) c.*868+195T= (n.*868+195T=) | |
| 14 | g.31393857A>G | CA258630320 | HEATR5A | c.772+195T>C (n.772+195T>C) c.*868+195T>C (n.*868+195T>C) | dbSNP |
| 14 | g.31393858G>C | CA258630324 | HEATR5A | c.772+194C>G (n.772+194C>G) c.*868+194C>G (n.*868+194C>G) | dbSNP |
| 14 | g.31393858G= | CA2127219157 | HEATR5A | c.772+194C= (n.772+194C=) c.*868+194C= (n.*868+194C=) | |
| 14 | g.31393860C>A | CA961631869 | HEATR5A | c.772+192G>T (n.772+192G>T) c.*868+192G>T (n.*868+192G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393860C= | CA2127219158 | HEATR5A | c.772+192G= (n.772+192G=) c.*868+192G= (n.*868+192G=) | |
| 14 | g.31393860C>T | CA704960047 | HEATR5A | c.772+192G>A (n.772+192G>A) c.*868+192G>A (n.*868+192G>A) | dbSNP |
| 14 | g.31393862G>A | CA704960049 | HEATR5A | c.772+190C>T (n.772+190C>T) c.*868+190C>T (n.*868+190C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393862G= | CA2127219159 | HEATR5A | c.772+190C= (n.772+190C=) c.*868+190C= (n.*868+190C=) | |
| 14 | g.31393863G= | CA2127219160 | HEATR5A | c.772+189C= (n.772+189C=) c.*868+189C= (n.*868+189C=) | |
| 14 | g.31393863G>T | CA704960054 | HEATR5A | c.772+189C>A (n.772+189C>A) c.*868+189C>A (n.*868+189C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393868A= | CA2127219161 | HEATR5A | c.772+184T= (n.772+184T=) c.*868+184T= (n.*868+184T=) | |
| 14 | g.31393868A>C | CA258630326 | HEATR5A | c.772+184T>G (n.772+184T>G) c.*868+184T>G (n.*868+184T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393873T>C | CA704960059 | HEATR5A | c.772+179A>G (n.772+179A>G) c.*868+179A>G (n.*868+179A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393873T= | CA2127219162 | HEATR5A | c.772+179A= (n.772+179A=) c.*868+179A= (n.*868+179A=) | |
| 14 | g.31393874G>C | CA961631893 | HEATR5A | c.772+178C>G (n.772+178C>G) c.*868+178C>G (n.*868+178C>G) | gnomAD v3 gnomAD v4 |
| 14 | g.31393875T>C | CA961631898 | HEATR5A | c.772+177A>G (n.772+177A>G) c.*868+177A>G (n.*868+177A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393875T= | CA2127219163 | HEATR5A | c.772+177A= (n.772+177A=) c.*868+177A= (n.*868+177A=) | |
| 14 | g.31393883G>C | CA704960060 | HEATR5A | c.772+169C>G (n.772+169C>G) c.*868+169C>G (n.*868+169C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393883G= | CA2127219164 | HEATR5A | c.772+169C= (n.772+169C=) c.*868+169C= (n.*868+169C=) | |
| 14 | g.31393890C= | CA2127219165 | HEATR5A | c.772+162G= (n.772+162G=) c.*868+162G= (n.*868+162G=) | |
| 14 | g.31393890C>T | CA613011980 | HEATR5A | c.772+162G>A (n.772+162G>A) c.*868+162G>A (n.*868+162G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393891A= | CA2127219166 | HEATR5A | c.772+161T= (n.772+161T=) c.*868+161T= (n.*868+161T=) | |
| 14 | g.31393891A>C | CA2127219167 | HEATR5A | c.772+161T>G (n.772+161T>G) c.*868+161T>G (n.*868+161T>G) | dbSNP |
| 14 | g.31393891A>G | CA961631903 | HEATR5A | c.772+161T>C (n.772+161T>C) c.*868+161T>C (n.*868+161T>C) | gnomAD v3 gnomAD v4 |
| 14 | g.31393892C= | CA2127219168 | HEATR5A | c.772+160G= (n.772+160G=) c.*868+160G= (n.*868+160G=) | |
| 14 | g.31393892C>T | CA258630327 | HEATR5A | c.772+160G>A (n.772+160G>A) c.*868+160G>A (n.*868+160G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393894C= | CA2127219169 | HEATR5A | c.772+158G= (n.772+158G=) c.*868+158G= (n.*868+158G=) | |
| 14 | g.31393894C>T | CA258630329 | HEATR5A | c.772+158G>A (n.772+158G>A) c.*868+158G>A (n.*868+158G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31393895G>A | CA258630331 | HEATR5A | c.772+157C>T (n.772+157C>T) c.*868+157C>T (n.*868+157C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31393895G= | CA2127219170 | HEATR5A | c.772+157C= (n.772+157C=) c.*868+157C= (n.*868+157C=) |