| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94046844_94046845delinsGC | CA1181422555 | ABCA4 | c.2918+74_2918+75delinsGC (p.=) c.2696+74_2696+75delinsGC (p.=) c.-64-6756_-64-6755delinsGC (p.=) | |
| 1 | g.94046846del | CA26840731 | ABCA4 | c.2918+74del (p.=) c.2696+74del (p.=) c.-64-6756del (p.=) | dbSNP |
| 1 | g.94046846C= | CA1181422556 | ABCA4 | c.2918+73G= (p.=) c.2696+73G= (p.=) c.-64-6757G= (p.=) | |
| 1 | g.94046846C>G | CA1181422557 | ABCA4 | c.2918+73G>C (p.=) c.2696+73G>C (p.=) c.-64-6757G>C (p.=) | |
| 1 | g.94046846C>T | CA26840734 | ABCA4 | c.2918+73G>A (p.=) c.2696+73G>A (p.=) c.-64-6757G>A (p.=) | dbSNP gnomAD |
| 1 | g.94046847G>A | CA524697507 | ABCA4 | c.2918+72C>T (p.=) c.2696+72C>T (p.=) c.-64-6758C>T (p.=) | gnomAD |
| 1 | g.94046847G= | CA1181422558 | ABCA4 | c.2918+72C= (p.=) c.2696+72C= (p.=) c.-64-6758C= (p.=) | |
| 1 | g.94046848C= | CA1146425610 | ABCA4 | c.2918+71G= (p.=) c.2696+71G= (p.=) c.-64-6759G= (p.=) | |
| 1 | g.94046848C>T | CA26840738 | ABCA4 | c.2918+71G>A (p.=) c.2696+71G>A (p.=) c.-64-6759G>A (p.=) | dbSNP |
| 1 | g.94046852T>C | CA26840741 | ABCA4 | c.2918+67A>G (p.=) c.2696+67A>G (p.=) c.-64-6763A>G (p.=) | dbSNP |
| 1 | g.94046852T= | CA1181422559 | ABCA4 | c.2918+67A= (p.=) c.2696+67A= (p.=) c.-64-6763A= (p.=) | |
| 1 | g.94046853A= | CA1181422560 | ABCA4 | c.2918+66T= (p.=) c.2696+66T= (p.=) c.-64-6764T= (p.=) | |
| 1 | g.94046853A>C | CA524697508 | ABCA4 | c.2918+66T>G (p.=) c.2696+66T>G (p.=) c.-64-6764T>G (p.=) | gnomAD |
| 1 | g.94046855G>C | CA1181422562 | ABCA4 | c.2918+64C>G (p.=) c.2696+64C>G (p.=) c.-64-6766C>G (p.=) | |
| 1 | g.94046855G= | CA1181422561 | ABCA4 | c.2918+64C= (p.=) c.2696+64C= (p.=) c.-64-6766C= (p.=) | |
| 1 | g.94046860G>C | CA26840744 | ABCA4 | c.2918+59C>G (p.=) c.2696+59C>G (p.=) c.-64-6771C>G (p.=) | dbSNP |
| 1 | g.94046860G= | CA1181422563 | ABCA4 | c.2918+59C= (p.=) c.2696+59C= (p.=) c.-64-6771C= (p.=) | |
| 1 | g.94046866_94046867delinsGC | CA1181422564 | ABCA4 | c.2918+52_2918+53delinsGC (p.=) c.2696+52_2696+53delinsGC (p.=) c.-64-6778_-64-6777delinsGC (p.=) | |
| 1 | g.94046867_94046868delinsCC | CA1144156552 | ABCA4 | c.2918+51_2918+52delinsGG (p.=) c.2696+51_2696+52delinsGG (p.=) c.-64-6779_-64-6778delinsGG (p.=) | |
| 1 | g.94046868del | CA26840747 | ABCA4 | c.2918+52del (p.=) c.2696+52del (p.=) c.-64-6778del (p.=) | dbSNP gnomAD |
| 1 | g.94046870G>C | CA1004567173 | ABCA4 | c.2918+49C>G (p.=) c.2696+49C>G (p.=) c.-64-6781C>G (p.=) | |
| 1 | g.94046870G= | CA1181422565 | ABCA4 | c.2918+49C= (p.=) c.2696+49C= (p.=) c.-64-6781C= (p.=) | |
| 1 | g.94046871G>C | CA958116 | ABCA4 | c.2918+48C>G (p.=) c.2696+48C>G (p.=) c.-64-6782C>G (p.=) | dbSNP ExAC gnomAD |
| 1 | g.94046871G= | CA1181422566 | ABCA4 | c.2918+48C= (p.=) c.2696+48C= (p.=) c.-64-6782C= (p.=) | |
| 1 | g.94046872A= | CA1181422567 | ABCA4 | c.2918+47T= (p.=) c.2696+47T= (p.=) c.-64-6783T= (p.=) | |
| 1 | g.94046872A>C | CA524697509 | ABCA4 | c.2918+47T>G (p.=) c.2696+47T>G (p.=) c.-64-6783T>G (p.=) | gnomAD |
| 1 | g.94046878C= | CA1181422568 | ABCA4 | c.2918+41G= (p.=) c.2696+41G= (p.=) c.-64-6789G= (p.=) | |
| 1 | g.94046878C>T | CA958117 | ABCA4 | c.2918+41G>A (p.=) c.2696+41G>A (p.=) c.-64-6789G>A (p.=) | dbSNP ExAC gnomAD |
| 1 | g.94046879A= | CA1181422569 | ABCA4 | c.2918+40T= (p.=) c.2696+40T= (p.=) c.-64-6790T= (p.=) | |
| 1 | g.94046879A>G | CA524697510 | ABCA4 | c.2918+40T>C (p.=) c.2696+40T>C (p.=) c.-64-6790T>C (p.=) | gnomAD |
| 1 | g.94046883T>A | CA26840752 | ABCA4 | c.2918+36A>T (p.=) c.2696+36A>T (p.=) c.-64-6794A>T (p.=) | dbSNP |
| 1 | g.94046883T= | CA1181422570 | ABCA4 | c.2918+36A= (p.=) c.2696+36A= (p.=) c.-64-6794A= (p.=) | |
| 1 | g.94046884A= | CA1181422571 | ABCA4 | c.2918+35T= (p.=) c.2696+35T= (p.=) c.-64-6795T= (p.=) | |
| 1 | g.94046884A>G | CA524697511 | ABCA4 | c.2918+35T>C (p.=) c.2696+35T>C (p.=) c.-64-6795T>C (p.=) | gnomAD |
| 1 | g.94046885G>A | CA958118 | ABCA4 | c.2918+34C>T (p.=) c.2696+34C>T (p.=) c.-64-6796C>T (p.=) | dbSNP ExAC gnomAD |
| 1 | g.94046885G= | CA1140870245 | ABCA4 | c.2918+34C= (p.=) c.2696+34C= (p.=) c.-64-6796C= (p.=) | |
| 1 | g.94046888T>C | CA418811284 | ABCA4 | c.2918+31A>G (p.=) c.2696+31A>G (p.=) c.-64-6799A>G (p.=) | |
| 1 | g.94046888T= | CA1181422572 | ABCA4 | c.2918+31A= (p.=) c.2696+31A= (p.=) c.-64-6799A= (p.=) | |
| 1 | g.94046890G>A | CA958119 | ABCA4 | c.2918+29C>T (p.=) c.2696+29C>T (p.=) c.-64-6801C>T (p.=) | dbSNP ExAC gnomAD |
| 1 | g.94046890G= | CA1143674397 | ABCA4 | c.2918+29C= (p.=) c.2696+29C= (p.=) c.-64-6801C= (p.=) | |
| 1 | g.94046892A= | CA1181422573 | ABCA4 | c.2918+27T= (p.=) c.2696+27T= (p.=) c.-64-6803T= (p.=) | |
| 1 | g.94046892A>G | CA958120 | ABCA4 | c.2918+27T>C (p.=) c.2696+27T>C (p.=) c.-64-6803T>C (p.=) | dbSNP ExAC gnomAD |
| 1 | g.94046894C= | CA1181422574 | ABCA4 | c.2918+25G= (p.=) c.2696+25G= (p.=) c.-64-6805G= (p.=) | |
| 1 | g.94046894C>G | CA1181422575 | ABCA4 | c.2918+25G>C (p.=) c.2696+25G>C (p.=) c.-64-6805G>C (p.=) | |
| 1 | g.94046894C>T | CA26840761 | ABCA4 | c.2918+25G>A (p.=) c.2696+25G>A (p.=) c.-64-6805G>A (p.=) | dbSNP gnomAD |
| 1 | g.94046897G>A | CA524697512 | ABCA4 | c.2918+22C>T (p.=) c.2696+22C>T (p.=) c.-64-6808C>T (p.=) | gnomAD |
| 1 | g.94046897G= | CA1181422576 | ABCA4 | c.2918+22C= (p.=) c.2696+22C= (p.=) c.-64-6808C= (p.=) | |
| 1 | g.94046905G>A | CA1181422578 | ABCA4 | c.2918+14C>T (p.=) c.2696+14C>T (p.=) c.-64-6816C>T (p.=) | |
| 1 | g.94046905G= | CA1181422577 | ABCA4 | c.2918+14C= (p.=) c.2696+14C= (p.=) c.-64-6816C= (p.=) | |
| 1 | g.94046909G>A | CA26840764 | ABCA4 | c.2918+10C>T (p.=) c.2696+10C>T (p.=) c.-64-6820C>T (p.=) | dbSNP |