| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.68958750T>C | CA262886201 | ACTN1 | c.105+20202A>G (p.=) c.42+19467A>G (p.=) c.-91+18628A>G (p.=) c.-91+18824A>G (p.=) c.102+19200A>G (p.=) c.-91+19427A>G (p.=) c.36+19266A>G (p.=) | dbSNP gnomAD |
| 14 | g.68958760C>T | CA964325146 | ACTN1 | c.105+20192G>A (p.=) c.42+19457G>A (p.=) c.-91+18618G>A (p.=) c.-91+18814G>A (p.=) c.102+19190G>A (p.=) c.-91+19417G>A (p.=) c.36+19256G>A (p.=) | |
| 14 | g.68958767G>A | CA655779195 | ACTN1 | c.105+20185C>T (p.=) c.42+19450C>T (p.=) c.-91+18611C>T (p.=) c.-91+18807C>T (p.=) c.102+19183C>T (p.=) c.-91+19410C>T (p.=) c.36+19249C>T (p.=) | COSMIC |
| 14 | g.68958771C>T | CA262886202 | ACTN1 | c.105+20181G>A (p.=) c.42+19446G>A (p.=) c.-91+18607G>A (p.=) c.-91+18803G>A (p.=) c.102+19179G>A (p.=) c.-91+19406G>A (p.=) c.36+19245G>A (p.=) | dbSNP |
| 14 | g.68958774G>A | CA708015689 | ACTN1 | c.105+20178C>T (p.=) c.42+19443C>T (p.=) c.-91+18604C>T (p.=) c.-91+18800C>T (p.=) c.102+19176C>T (p.=) c.-91+19403C>T (p.=) c.36+19242C>T (p.=) | |
| 14 | g.68958777C>T | CA262886203 | ACTN1 | c.105+20175G>A (p.=) c.42+19440G>A (p.=) c.-91+18601G>A (p.=) c.-91+18797G>A (p.=) c.102+19173G>A (p.=) c.-91+19400G>A (p.=) c.36+19239G>A (p.=) | dbSNP |
| 14 | g.68958780G>C | CA708015697 | ACTN1 | c.105+20172C>G (p.=) c.42+19437C>G (p.=) c.-91+18598C>G (p.=) c.-91+18794C>G (p.=) c.102+19170C>G (p.=) c.-91+19397C>G (p.=) c.36+19236C>G (p.=) | |
| 14 | g.68958782G>A | CA262886204 | ACTN1 | c.105+20170C>T (p.=) c.42+19435C>T (p.=) c.-91+18596C>T (p.=) c.-91+18792C>T (p.=) c.102+19168C>T (p.=) c.-91+19395C>T (p.=) c.36+19234C>T (p.=) | dbSNP |
| 14 | g.68958782G>C | CA262886205 | ACTN1 | c.105+20170C>G (p.=) c.42+19435C>G (p.=) c.-91+18596C>G (p.=) c.-91+18792C>G (p.=) c.102+19168C>G (p.=) c.-91+19395C>G (p.=) c.36+19234C>G (p.=) | dbSNP |
| 14 | g.68958789G>A | CA708015699 | ACTN1 | c.105+20163C>T (p.=) c.42+19428C>T (p.=) c.-91+18589C>T (p.=) c.-91+18785C>T (p.=) c.102+19161C>T (p.=) c.-91+19388C>T (p.=) c.36+19227C>T (p.=) | |
| 14 | g.68958794G>A | CA262886206 | ACTN1 | c.105+20158C>T (p.=) c.42+19423C>T (p.=) c.-91+18584C>T (p.=) c.-91+18780C>T (p.=) c.102+19156C>T (p.=) c.-91+19383C>T (p.=) c.36+19222C>T (p.=) | dbSNP gnomAD |
| 14 | g.68958795G>C | CA262886207 | ACTN1 | c.105+20157C>G (p.=) c.42+19422C>G (p.=) c.-91+18583C>G (p.=) c.-91+18779C>G (p.=) c.102+19155C>G (p.=) c.-91+19382C>G (p.=) c.36+19221C>G (p.=) | dbSNP gnomAD |
| 14 | g.68958796G>C | CA614795873 | ACTN1 | c.105+20156C>G (p.=) c.42+19421C>G (p.=) c.-91+18582C>G (p.=) c.-91+18778C>G (p.=) c.102+19154C>G (p.=) c.-91+19381C>G (p.=) c.36+19220C>G (p.=) | gnomAD |
| 14 | g.68958800C>T | CA262886208 | ACTN1 | c.105+20152G>A (p.=) c.42+19417G>A (p.=) c.-91+18578G>A (p.=) c.-91+18774G>A (p.=) c.102+19150G>A (p.=) c.-91+19377G>A (p.=) c.36+19216G>A (p.=) | dbSNP gnomAD |
| 14 | g.68958801T>C | CA708015709 | ACTN1 | c.105+20151A>G (p.=) c.42+19416A>G (p.=) c.-91+18577A>G (p.=) c.-91+18773A>G (p.=) c.102+19149A>G (p.=) c.-91+19376A>G (p.=) c.36+19215A>G (p.=) | |
| 14 | g.68958808G>A | CA708015710 | ACTN1 | c.105+20144C>T (p.=) c.42+19409C>T (p.=) c.-91+18570C>T (p.=) c.-91+18766C>T (p.=) c.102+19142C>T (p.=) c.-91+19369C>T (p.=) c.36+19208C>T (p.=) | |
| 14 | g.68958813_68958818dup | CA708015715 | ACTN1 | c.105+20137_105+20142dup (p.=) c.42+19402_42+19407dup (p.=) c.-91+18563_-91+18568dup (p.=) c.-91+18759_-91+18764dup (p.=) c.102+19135_102+19140dup (p.=) c.-91+19362_-91+19367dup (p.=) c.36+19201_36+19206dup (p.=) | dbSNP |
| 14 | g.68958818C>T | CA964325158 | ACTN1 | c.105+20134G>A (p.=) c.42+19399G>A (p.=) c.-91+18560G>A (p.=) c.-91+18756G>A (p.=) c.102+19132G>A (p.=) c.-91+19359G>A (p.=) c.36+19198G>A (p.=) | |
| 14 | g.68958819G>A | CA262886209 | ACTN1 | c.105+20133C>T (p.=) c.42+19398C>T (p.=) c.-91+18559C>T (p.=) c.-91+18755C>T (p.=) c.102+19131C>T (p.=) c.-91+19358C>T (p.=) c.36+19197C>T (p.=) | dbSNP gnomAD |
| 14 | g.68958829A>G | CA262886210 | ACTN1 | c.105+20123T>C (p.=) c.42+19388T>C (p.=) c.-91+18549T>C (p.=) c.-91+18745T>C (p.=) c.102+19121T>C (p.=) c.-91+19348T>C (p.=) c.36+19187T>C (p.=) | dbSNP gnomAD |
| 14 | g.68958830C>T | CA708015719 | ACTN1 | c.105+20122G>A (p.=) c.42+19387G>A (p.=) c.-91+18548G>A (p.=) c.-91+18744G>A (p.=) c.102+19120G>A (p.=) c.-91+19347G>A (p.=) c.36+19186G>A (p.=) | |
| 14 | g.68958832_68958835dup | CA614795874 | ACTN1 | c.105+20118_105+20121dup (p.=) c.42+19383_42+19386dup (p.=) c.-91+18544_-91+18547dup (p.=) c.-91+18740_-91+18743dup (p.=) c.102+19116_102+19119dup (p.=) c.-91+19343_-91+19346dup (p.=) c.36+19182_36+19185dup (p.=) | dbSNP gnomAD |
| 14 | g.68958836C>G | CA262886212 | ACTN1 | c.105+20116G>C (p.=) c.42+19381G>C (p.=) c.-91+18542G>C (p.=) c.-91+18738G>C (p.=) c.102+19114G>C (p.=) c.-91+19341G>C (p.=) c.36+19180G>C (p.=) | dbSNP gnomAD |
| 14 | g.68958836C>T | CA262886211 | ACTN1 | c.105+20116G>A (p.=) c.42+19381G>A (p.=) c.-91+18542G>A (p.=) c.-91+18738G>A (p.=) c.102+19114G>A (p.=) c.-91+19341G>A (p.=) c.36+19180G>A (p.=) | dbSNP |
| 14 | g.68958847G>A | CA262886213 | ACTN1 | c.105+20105C>T (p.=) c.42+19370C>T (p.=) c.-91+18531C>T (p.=) c.-91+18727C>T (p.=) c.102+19103C>T (p.=) c.-91+19330C>T (p.=) c.36+19169C>T (p.=) | dbSNP gnomAD |
| 14 | g.68958847G>C | CA964325165 | ACTN1 | c.105+20105C>G (p.=) c.42+19370C>G (p.=) c.-91+18531C>G (p.=) c.-91+18727C>G (p.=) c.102+19103C>G (p.=) c.-91+19330C>G (p.=) c.36+19169C>G (p.=) |