Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.31393764T>C | CA961631818 | HEATR5A | c.772+288A>G (n.772+288A>G) c.*868+288A>G (n.*868+288A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393764T= | CA2127219114 | HEATR5A | c.772+288A= (n.772+288A=) c.*868+288A= (n.*868+288A=) | |
14 | g.31393765T>C | CA2127219116 | HEATR5A | c.772+287A>G (n.772+287A>G) c.*868+287A>G (n.*868+287A>G) | dbSNP |
14 | g.31393765T= | CA2127219115 | HEATR5A | c.772+287A= (n.772+287A=) c.*868+287A= (n.*868+287A=) | |
14 | g.31393766G>A | CA258630294 | HEATR5A | c.772+286C>T (n.772+286C>T) c.*868+286C>T (n.*868+286C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393766G= | CA2127219117 | HEATR5A | c.772+286C= (n.772+286C=) c.*868+286C= (n.*868+286C=) | |
14 | g.31393766G>T | CA2127219118 | HEATR5A | c.772+286C>A (n.772+286C>A) c.*868+286C>A (n.*868+286C>A) | dbSNP |
14 | g.31393769A= | CA2127219119 | HEATR5A | c.772+283T= (n.772+283T=) c.*868+283T= (n.*868+283T=) | |
14 | g.31393769A>G | CA613011971 | HEATR5A | c.772+283T>C (n.772+283T>C) c.*868+283T>C (n.*868+283T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31393773C= | CA2127219120 | HEATR5A | c.772+279G= (n.772+279G=) c.*868+279G= (n.*868+279G=) | |
14 | g.31393773C>T | CA2127219121 | HEATR5A | c.772+279G>A (n.772+279G>A) c.*868+279G>A (n.*868+279G>A) | dbSNP |
14 | g.31393775A>C | CA2801067541 | HEATR5A | c.772+277T>G (n.772+277T>G) c.*868+277T>G (n.*868+277T>G) | |
14 | g.31393777T>C | CA258630295 | HEATR5A | c.772+275A>G (n.772+275A>G) c.*868+275A>G (n.*868+275A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31393777T= | CA2127219122 | HEATR5A | c.772+275A= (n.772+275A=) c.*868+275A= (n.*868+275A=) | |
14 | g.31393780G>A | CA258630296 | HEATR5A | c.772+272C>T (n.772+272C>T) c.*868+272C>T (n.*868+272C>T) | dbSNP |
14 | g.31393780G= | CA2127219123 | HEATR5A | c.772+272C= (n.772+272C=) c.*868+272C= (n.*868+272C=) | |
14 | g.31393790A= | CA2127219124 | HEATR5A | c.772+262T= (n.772+262T=) c.*868+262T= (n.*868+262T=) | |
14 | g.31393790A>G | CA613011974 | HEATR5A | c.772+262T>C (n.772+262T>C) c.*868+262T>C (n.*868+262T>C) | dbSNP gnomAD v2 |
14 | g.31393792G>A | CA2127219126 | HEATR5A | c.772+260C>T (n.772+260C>T) c.*868+260C>T (n.*868+260C>T) | dbSNP |
14 | g.31393792G= | CA2127219125 | HEATR5A | c.772+260C= (n.772+260C=) c.*868+260C= (n.*868+260C=) | |
14 | g.31393793C= | CA2127219127 | HEATR5A | c.772+259G= (n.772+259G=) c.*868+259G= (n.*868+259G=) | |
14 | g.31393793C>G | CA2127219128 | HEATR5A | c.772+259G>C (n.772+259G>C) c.*868+259G>C (n.*868+259G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393793C>T | CA704960038 | HEATR5A | c.772+259G>A (n.772+259G>A) c.*868+259G>A (n.*868+259G>A) | dbSNP |
14 | g.31393794G>A | CA704960040 | HEATR5A | c.772+258C>T (n.772+258C>T) c.*868+258C>T (n.*868+258C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393794G= | CA2127219129 | HEATR5A | c.772+258C= (n.772+258C=) c.*868+258C= (n.*868+258C=) | |
14 | g.31393798G>C | CA704960041 | HEATR5A | c.772+254C>G (n.772+254C>G) c.*868+254C>G (n.*868+254C>G) | dbSNP |
14 | g.31393798G= | CA2127219130 | HEATR5A | c.772+254C= (n.772+254C=) c.*868+254C= (n.*868+254C=) | |
14 | g.31393799C= | CA2127219131 | HEATR5A | c.772+253G= (n.772+253G=) c.*868+253G= (n.*868+253G=) | |
14 | g.31393799C>T | CA258630297 | HEATR5A | c.772+253G>A (n.772+253G>A) c.*868+253G>A (n.*868+253G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393801A= | CA2127219132 | HEATR5A | c.772+251T= (n.772+251T=) c.*868+251T= (n.*868+251T=) | |
14 | g.31393801A>G | CA961631832 | HEATR5A | c.772+251T>C (n.772+251T>C) c.*868+251T>C (n.*868+251T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393802T>A | CA2127219134 | HEATR5A | c.772+250A>T (n.772+250A>T) c.*868+250A>T (n.*868+250A>T) | dbSNP |
14 | g.31393802T>C | CA2533834993 | HEATR5A | c.772+250A>G (n.772+250A>G) c.*868+250A>G (n.*868+250A>G) | |
14 | g.31393802T= | CA2127219133 | HEATR5A | c.772+250A= (n.772+250A=) c.*868+250A= (n.*868+250A=) | |
14 | g.31393804A= | CA2127219135 | HEATR5A | c.772+248T= (n.772+248T=) c.*868+248T= (n.*868+248T=) | |
14 | g.31393804A>G | CA258630298 | HEATR5A | c.772+248T>C (n.772+248T>C) c.*868+248T>C (n.*868+248T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393805C= | CA2127219136 | HEATR5A | c.772+247G= (n.772+247G=) c.*868+247G= (n.*868+247G=) | |
14 | g.31393805C>T | CA704960042 | HEATR5A | c.772+247G>A (n.772+247G>A) c.*868+247G>A (n.*868+247G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393808C= | CA2127219137 | HEATR5A | c.772+244G= (n.772+244G=) c.*868+244G= (n.*868+244G=) | |
14 | g.31393808C>T | CA2127219138 | HEATR5A | c.772+244G>A (n.772+244G>A) c.*868+244G>A (n.*868+244G>A) | dbSNP |
14 | g.31393809A= | CA2127219140 | HEATR5A | c.772+243T= (n.772+243T=) c.*868+243T= (n.*868+243T=) | |
14 | g.31393809A>G | CA2127219139 | HEATR5A | c.772+243T>C (n.772+243T>C) c.*868+243T>C (n.*868+243T>C) | dbSNP |
14 | g.31393820T>C | CA704960043 | HEATR5A | c.772+232A>G (n.772+232A>G) c.*868+232A>G (n.*868+232A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393820T= | CA2127219141 | HEATR5A | c.772+232A= (n.772+232A=) c.*868+232A= (n.*868+232A=) | |
14 | g.31393820_31393821insA | CA704960044 | HEATR5A | c.772+231_772+232insT (n.772+231_772+232insT) c.*868+231_*868+232insT (n.*868+231_*868+232insT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.31393821G>A | CA258630301 | HEATR5A | c.772+231C>T (n.772+231C>T) c.*868+231C>T (n.*868+231C>T) | dbSNP |
14 | g.31393821G= | CA2127219142 | HEATR5A | c.772+231C= (n.772+231C=) c.*868+231C= (n.*868+231C=) | |
14 | g.31393823A= | CA2127219143 | HEATR5A | c.772+229T= (n.772+229T=) c.*868+229T= (n.*868+229T=) | |
14 | g.31393823A>G | CA613011975 | HEATR5A | c.772+229T>C (n.772+229T>C) c.*868+229T>C (n.*868+229T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31393824T>A | CA2729480348 | HEATR5A | c.772+228A>T (n.772+228A>T) c.*868+228A>T (n.*868+228A>T) | dbSNP |