| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215011342A= | CA1327174057 | ABCA12 | c.2332+97T= (p.=) c.1378+97T= (p.=) n.2576+97T= n.2774+97T= | |
| 2 | g.215011342A>C | CA1042213709 | ABCA12 | c.2332+97T>G (p.=) c.1378+97T>G (p.=) n.2576+97T>G n.2774+97T>G | |
| 2 | g.215011346_215011350delinsATACT | CA1327174058 | ABCA12 | c.2332+89_2332+93delinsAGTAT (p.=) c.1378+89_1378+93delinsAGTAT (p.=) n.2576+89_2576+93delinsAGTAT n.2774+89_2774+93delinsAGTAT | |
| 2 | g.215011348_215011351del | CA1042213711 | ABCA12 | c.2332+89_2332+92del (p.=) c.1378+89_1378+92del (p.=) n.2576+89_2576+92del n.2774+89_2774+92del | dbSNP |
| 2 | g.215011348A= | CA1327174059 | ABCA12 | c.2332+91T= (p.=) c.1378+91T= (p.=) n.2576+91T= n.2774+91T= | |
| 2 | g.215011348A>G | CA1042213712 | ABCA12 | c.2332+91T>C (p.=) c.1378+91T>C (p.=) n.2576+91T>C n.2774+91T>C | |
| 2 | g.215011359C= | CA1327174060 | ABCA12 | c.2332+80G= (p.=) c.1378+80G= (p.=) n.2576+80G= n.2774+80G= | |
| 2 | g.215011359C>T | CA1327174061 | ABCA12 | c.2332+80G>A (p.=) c.1378+80G>A (p.=) n.2576+80G>A n.2774+80G>A | |
| 2 | g.215011360A= | CA1327174062 | ABCA12 | c.2332+79T= (p.=) c.1378+79T= (p.=) n.2576+79T= n.2774+79T= | |
| 2 | g.215011360A>G | CA764553677 | ABCA12 | c.2332+79T>C (p.=) c.1378+79T>C (p.=) n.2576+79T>C n.2774+79T>C | |
| 2 | g.215011361T>C | CA1327174063 | ABCA12 | c.2332+78A>G (p.=) c.1378+78A>G (p.=) n.2576+78A>G n.2774+78A>G | |
| 2 | g.215011361T= | CA1327174064 | ABCA12 | c.2332+78A= (p.=) c.1378+78A= (p.=) n.2576+78A= n.2774+78A= | |
| 2 | g.215011367dup | CA764553685 | ABCA12 | c.2332+77dup (p.=) c.1378+77dup (p.=) n.2576+77dup n.2774+77dup | dbSNP |
| 2 | g.215011366A= | CA1327174065 | ABCA12 | c.2332+73T= (p.=) c.1378+73T= (p.=) n.2576+73T= n.2774+73T= | |
| 2 | g.215011366A>C | CA64844200 | ABCA12 | c.2332+73T>G (p.=) c.1378+73T>G (p.=) n.2576+73T>G n.2774+73T>G | dbSNP |
| 2 | g.215011369T>G | CA64844201 | ABCA12 | c.2332+70A>C (p.=) c.1378+70A>C (p.=) n.2576+70A>C n.2774+70A>C | dbSNP |
| 2 | g.215011369T= | CA1327174066 | ABCA12 | c.2332+70A= (p.=) c.1378+70A= (p.=) n.2576+70A= n.2774+70A= | |
| 2 | g.215011370_215011374delinsAAGAC | CA1327174067 | ABCA12 | c.2332+65_2332+69delinsGTCTT (p.=) c.1378+65_1378+69delinsGTCTT (p.=) n.2576+65_2576+69delinsGTCTT n.2774+65_2774+69delinsGTCTT | |
| 2 | g.215011374_215011377del | CA764553691 | ABCA12 | c.2332+65_2332+68del (p.=) c.1378+65_1378+68del (p.=) n.2576+65_2576+68del n.2774+65_2774+68del | dbSNP |
| 2 | g.215011378A= | CA1327174068 | ABCA12 | c.2332+61T= (p.=) c.1378+61T= (p.=) n.2576+61T= n.2774+61T= | |
| 2 | g.215011378A>G | CA1327174069 | ABCA12 | c.2332+61T>C (p.=) c.1378+61T>C (p.=) n.2576+61T>C n.2774+61T>C | |
| 2 | g.215011381G>A | CA64844204 | ABCA12 | c.2332+58C>T (p.=) c.1378+58C>T (p.=) n.2576+58C>T n.2774+58C>T | dbSNP |
| 2 | g.215011381G= | CA1327174070 | ABCA12 | c.2332+58C= (p.=) c.1378+58C= (p.=) n.2576+58C= n.2774+58C= | |
| 2 | g.215011382A= | CA1327174071 | ABCA12 | c.2332+57T= (p.=) c.1378+57T= (p.=) n.2576+57T= n.2774+57T= | |
| 2 | g.215011382A>G | CA764553695 | ABCA12 | c.2332+57T>C (p.=) c.1378+57T>C (p.=) n.2576+57T>C n.2774+57T>C | |
| 2 | g.215011384A= | CA1327174072 | ABCA12 | c.2332+55T= (p.=) c.1378+55T= (p.=) n.2576+55T= n.2774+55T= | |
| 2 | g.215011384A>G | CA764553696 | ABCA12 | c.2332+55T>C (p.=) c.1378+55T>C (p.=) n.2576+55T>C n.2774+55T>C | |
| 2 | g.215011384A>T | CA1327174073 | ABCA12 | c.2332+55T>A (p.=) c.1378+55T>A (p.=) n.2576+55T>A n.2774+55T>A | |
| 2 | g.215011385G>A | CA1327174075 | ABCA12 | c.2332+54C>T (p.=) c.1378+54C>T (p.=) n.2576+54C>T n.2774+54C>T | |
| 2 | g.215011385G= | CA1327174074 | ABCA12 | c.2332+54C= (p.=) c.1378+54C= (p.=) n.2576+54C= n.2774+54C= | |
| 2 | g.215011393A= | CA1327174076 | ABCA12 | c.2332+46T= (p.=) c.1378+46T= (p.=) n.2576+46T= n.2774+46T= | |
| 2 | g.215011393A>T | CA2091987 | ABCA12 | c.2332+46T>A (p.=) c.1378+46T>A (p.=) n.2576+46T>A n.2774+46T>A | dbSNP ExAC gnomAD |
| 2 | g.215011394T>C | CA2091988 | ABCA12 | c.2332+45A>G (p.=) c.1378+45A>G (p.=) n.2576+45A>G n.2774+45A>G | dbSNP ExAC gnomAD |
| 2 | g.215011394T= | CA1327174077 | ABCA12 | c.2332+45A= (p.=) c.1378+45A= (p.=) n.2576+45A= n.2774+45A= | |
| 2 | g.215011396G>A | CA64844213 | ABCA12 | c.2332+43C>T (p.=) c.1378+43C>T (p.=) n.2576+43C>T n.2774+43C>T | dbSNP |
| 2 | g.215011396G= | CA1327174078 | ABCA12 | c.2332+43C= (p.=) c.1378+43C= (p.=) n.2576+43C= n.2774+43C= | |
| 2 | g.215011398C= | CA1327174079 | ABCA12 | c.2332+41G= (p.=) c.1378+41G= (p.=) n.2576+41G= n.2774+41G= | |
| 2 | g.215011398C>T | CA2091989 | ABCA12 | c.2332+41G>A (p.=) c.1378+41G>A (p.=) n.2576+41G>A n.2774+41G>A | dbSNP ExAC gnomAD |
| 2 | g.215011401T>C | CA539837700 | ABCA12 | c.2332+38A>G (p.=) c.1378+38A>G (p.=) n.2576+38A>G n.2774+38A>G | gnomAD |
| 2 | g.215011401T= | CA1327174080 | ABCA12 | c.2332+38A= (p.=) c.1378+38A= (p.=) n.2576+38A= n.2774+38A= | |
| 2 | g.215011406G>A | CA539837701 | ABCA12 | c.2332+33C>T (p.=) c.1378+33C>T (p.=) n.2576+33C>T n.2774+33C>T | gnomAD |
| 2 | g.215011406G= | CA1327174081 | ABCA12 | c.2332+33C= (p.=) c.1378+33C= (p.=) n.2576+33C= n.2774+33C= | |
| 2 | g.215011406G>T | CA539837702 | ABCA12 | c.2332+33C>A (p.=) c.1378+33C>A (p.=) n.2576+33C>A n.2774+33C>A | gnomAD |
| 2 | g.215011407C>A | CA2091990 | ABCA12 | c.2332+32G>T (p.=) c.1378+32G>T (p.=) n.2576+32G>T n.2774+32G>T | dbSNP ExAC gnomAD |
| 2 | g.215011407C= | CA1327174082 | ABCA12 | c.2332+32G= (p.=) c.1378+32G= (p.=) n.2576+32G= n.2774+32G= | |
| 2 | g.215011409A= | CA1327174083 | ABCA12 | c.2332+30T= (p.=) c.1378+30T= (p.=) n.2576+30T= n.2774+30T= | |
| 2 | g.215011409A>C | CA1327174084 | ABCA12 | c.2332+30T>G (p.=) c.1378+30T>G (p.=) n.2576+30T>G n.2774+30T>G | |
| 2 | g.215011410C= | CA1327174085 | ABCA12 | c.2332+29G= (p.=) c.1378+29G= (p.=) n.2576+29G= n.2774+29G= | |
| 2 | g.215011410C>T | CA2091991 | ABCA12 | c.2332+29G>A (p.=) c.1378+29G>A (p.=) n.2576+29G>A n.2774+29G>A | dbSNP ExAC gnomAD |
| 2 | g.215011411T>C | CA539837703 | ABCA12 | c.2332+28A>G (p.=) c.1378+28A>G (p.=) n.2576+28A>G n.2774+28A>G | gnomAD |