| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104828853del | CA197394841 | ABCA1 | c.2115+65del (p.=) n.288+65del c.1935+65del (p.=) c.2190+65del (p.=) c.1752+65del (p.=) c.2052+65del (p.=) n.2503+65del | dbSNP |
| 9 | g.104828853C= | CA1869919810 | ABCA1 | c.2115+63G= (p.=) n.288+63G= c.1935+63G= (p.=) c.2190+63G= (p.=) c.1752+63G= (p.=) c.2052+63G= (p.=) n.2503+63G= | |
| 9 | g.104828853C>G | CA1869919812 | ABCA1 | c.2115+63G>C (p.=) n.288+63G>C c.1935+63G>C (p.=) c.2190+63G>C (p.=) c.1752+63G>C (p.=) c.2052+63G>C (p.=) n.2503+63G>C | |
| 9 | g.104828857G= | CA1869919817 | ABCA1 | c.2115+59C= (p.=) n.288+59C= c.1935+59C= (p.=) c.2190+59C= (p.=) c.1752+59C= (p.=) c.2052+59C= (p.=) n.2503+59C= | |
| 9 | g.104828857G>T | CA858048608 | ABCA1 | c.2115+59C>A (p.=) n.288+59C>A c.1935+59C>A (p.=) c.2190+59C>A (p.=) c.1752+59C>A (p.=) c.2052+59C>A (p.=) n.2503+59C>A | |
| 9 | g.104828858C= | CA1869919823 | ABCA1 | c.2115+58G= (p.=) n.288+58G= c.1935+58G= (p.=) c.2190+58G= (p.=) c.1752+58G= (p.=) c.2052+58G= (p.=) n.2503+58G= | |
| 9 | g.104828858C>T | CA858048615 | ABCA1 | c.2115+58G>A (p.=) n.288+58G>A c.1935+58G>A (p.=) c.2190+58G>A (p.=) c.1752+58G>A (p.=) c.2052+58G>A (p.=) n.2503+58G>A | |
| 9 | g.104828860C>A | CA1869919832 | ABCA1 | c.2115+56G>T (p.=) n.288+56G>T c.1935+56G>T (p.=) c.2190+56G>T (p.=) c.1752+56G>T (p.=) c.2052+56G>T (p.=) n.2503+56G>T | |
| 9 | g.104828860C= | CA1869919829 | ABCA1 | c.2115+56G= (p.=) n.288+56G= c.1935+56G= (p.=) c.2190+56G= (p.=) c.1752+56G= (p.=) c.2052+56G= (p.=) n.2503+56G= | |
| 9 | g.104828860C>T | CA197394855 | ABCA1 | c.2115+56G>A (p.=) n.288+56G>A c.1935+56G>A (p.=) c.2190+56G>A (p.=) c.1752+56G>A (p.=) c.2052+56G>A (p.=) n.2503+56G>A | dbSNP gnomAD |
| 9 | g.104828861G>A | CA197394858 | ABCA1 | c.2115+55C>T (p.=) n.288+55C>T c.1935+55C>T (p.=) c.2190+55C>T (p.=) c.1752+55C>T (p.=) c.2052+55C>T (p.=) n.2503+55C>T | dbSNP |
| 9 | g.104828861G= | CA1869919836 | ABCA1 | c.2115+55C= (p.=) n.288+55C= c.1935+55C= (p.=) c.2190+55C= (p.=) c.1752+55C= (p.=) c.2052+55C= (p.=) n.2503+55C= | |
| 9 | g.104828862T>C | CA197394861 | ABCA1 | c.2115+54A>G (p.=) n.288+54A>G c.1935+54A>G (p.=) c.2190+54A>G (p.=) c.1752+54A>G (p.=) c.2052+54A>G (p.=) n.2503+54A>G | dbSNP |
| 9 | g.104828862T= | CA1869919838 | ABCA1 | c.2115+54A= (p.=) n.288+54A= c.1935+54A= (p.=) c.2190+54A= (p.=) c.1752+54A= (p.=) c.2052+54A= (p.=) n.2503+54A= | |
| 9 | g.104828865T>G | CA2571599552 | ABCA1 | c.2115+51A>C (p.=) n.288+51A>C c.1935+51A>C (p.=) c.2190+51A>C (p.=) c.1752+51A>C (p.=) c.2052+51A>C (p.=) n.2503+51A>C | |
| 9 | g.104828868G>C | CA466509197 | ABCA1 | c.2115+48C>G (p.=) n.288+48C>G c.1935+48C>G (p.=) c.2190+48C>G (p.=) c.1752+48C>G (p.=) c.2052+48C>G (p.=) n.2503+48C>G | |
| 9 | g.104828869C= | CA1869919841 | ABCA1 | c.2115+47G= (p.=) n.288+47G= c.1935+47G= (p.=) c.2190+47G= (p.=) c.1752+47G= (p.=) c.2052+47G= (p.=) n.2503+47G= | |
| 9 | g.104828869C>G | CA589840195 | ABCA1 | c.2115+47G>C (p.=) n.288+47G>C c.1935+47G>C (p.=) c.2190+47G>C (p.=) c.1752+47G>C (p.=) c.2052+47G>C (p.=) n.2503+47G>C | gnomAD |
| 9 | g.104828871A= | CA1869919865 | ABCA1 | c.2115+45T= (p.=) n.288+45T= c.1935+45T= (p.=) c.2190+45T= (p.=) c.1752+45T= (p.=) c.2052+45T= (p.=) n.2503+45T= | |
| 9 | g.104828871A>G | CA197394866 | ABCA1 | c.2115+45T>C (p.=) n.288+45T>C c.1935+45T>C (p.=) c.2190+45T>C (p.=) c.1752+45T>C (p.=) c.2052+45T>C (p.=) n.2503+45T>C | dbSNP gnomAD |
| 9 | g.104828875C= | CA1869919871 | ABCA1 | c.2115+41G= (p.=) n.288+41G= c.1935+41G= (p.=) c.2190+41G= (p.=) c.1752+41G= (p.=) c.2052+41G= (p.=) n.2503+41G= | |
| 9 | g.104828875C>T | CA5168810 | ABCA1 | c.2115+41G>A (p.=) n.288+41G>A c.1935+41G>A (p.=) c.2190+41G>A (p.=) c.1752+41G>A (p.=) c.2052+41G>A (p.=) n.2503+41G>A | dbSNP ExAC gnomAD |
| 9 | g.104828876G>A | CA5168811 | ABCA1 | c.2115+40C>T (p.=) n.288+40C>T c.1935+40C>T (p.=) c.2190+40C>T (p.=) c.1752+40C>T (p.=) c.2052+40C>T (p.=) n.2503+40C>T | dbSNP ExAC gnomAD |
| 9 | g.104828876G>C | CA5168812 | ABCA1 | c.2115+40C>G (p.=) n.288+40C>G c.1935+40C>G (p.=) c.2190+40C>G (p.=) c.1752+40C>G (p.=) c.2052+40C>G (p.=) n.2503+40C>G | dbSNP ExAC gnomAD |
| 9 | g.104828876G= | CA1869919876 | ABCA1 | c.2115+40C= (p.=) n.288+40C= c.1935+40C= (p.=) c.2190+40C= (p.=) c.1752+40C= (p.=) c.2052+40C= (p.=) n.2503+40C= | |
| 9 | g.104828877G= | CA1869919882 | ABCA1 | c.2115+39C= (p.=) n.288+39C= c.1935+39C= (p.=) c.2190+39C= (p.=) c.1752+39C= (p.=) c.2052+39C= (p.=) n.2503+39C= | |
| 9 | g.104828877G>T | CA589840215 | ABCA1 | c.2115+39C>A (p.=) n.288+39C>A c.1935+39C>A (p.=) c.2190+39C>A (p.=) c.1752+39C>A (p.=) c.2052+39C>A (p.=) n.2503+39C>A | gnomAD |
| 9 | g.104828879G>A | CA5168813 | ABCA1 | c.2115+37C>T (p.=) n.288+37C>T c.1935+37C>T (p.=) c.2190+37C>T (p.=) c.1752+37C>T (p.=) c.2052+37C>T (p.=) n.2503+37C>T | dbSNP ExAC gnomAD |
| 9 | g.104828879G= | CA1869919885 | ABCA1 | c.2115+37C= (p.=) n.288+37C= c.1935+37C= (p.=) c.2190+37C= (p.=) c.1752+37C= (p.=) c.2052+37C= (p.=) n.2503+37C= | |
| 9 | g.104828879_104828880delinsGT | CA1869919886 | ABCA1 | c.2115+36_2115+37delinsAC (p.=) n.288+36_288+37delinsAC c.1935+36_1935+37delinsAC (p.=) c.2190+36_2190+37delinsAC (p.=) c.1752+36_1752+37delinsAC (p.=) c.2052+36_2052+37delinsAC (p.=) n.2503+36_2503+37delinsAC | |
| 9 | g.104828882del | CA5168814 | ABCA1 | c.2115+36del (p.=) n.288+36del c.1935+36del (p.=) c.2190+36del (p.=) c.1752+36del (p.=) c.2052+36del (p.=) n.2503+36del | dbSNP ExAC |
| 9 | g.104828884C>A | CA5168815 | ABCA1 | c.2115+32G>T (p.=) n.288+32G>T c.1935+32G>T (p.=) c.2190+32G>T (p.=) c.1752+32G>T (p.=) c.2052+32G>T (p.=) n.2503+32G>T | dbSNP ExAC gnomAD |
| 9 | g.104828884C= | CA1869919889 | ABCA1 | c.2115+32G= (p.=) n.288+32G= c.1935+32G= (p.=) c.2190+32G= (p.=) c.1752+32G= (p.=) c.2052+32G= (p.=) n.2503+32G= | |
| 9 | g.104828886G= | CA1869919892 | ABCA1 | c.2115+30C= (p.=) n.288+30C= c.1935+30C= (p.=) c.2190+30C= (p.=) c.1752+30C= (p.=) c.2052+30C= (p.=) n.2503+30C= | |
| 9 | g.104828886G>T | CA1869919893 | ABCA1 | c.2115+30C>A (p.=) n.288+30C>A c.1935+30C>A (p.=) c.2190+30C>A (p.=) c.1752+30C>A (p.=) c.2052+30C>A (p.=) n.2503+30C>A | |
| 9 | g.104828888C= | CA1869919896 | ABCA1 | c.2115+28G= (p.=) n.288+28G= c.1935+28G= (p.=) c.2190+28G= (p.=) c.1752+28G= (p.=) c.2052+28G= (p.=) n.2503+28G= | |
| 9 | g.104828888C>T | CA589840220 | ABCA1 | c.2115+28G>A (p.=) n.288+28G>A c.1935+28G>A (p.=) c.2190+28G>A (p.=) c.1752+28G>A (p.=) c.2052+28G>A (p.=) n.2503+28G>A | gnomAD |
| 9 | g.104828891G>A | CA5168816 | ABCA1 | c.2115+25C>T (p.=) n.288+25C>T c.1935+25C>T (p.=) c.2190+25C>T (p.=) c.1752+25C>T (p.=) c.2052+25C>T (p.=) n.2503+25C>T | dbSNP ExAC gnomAD |
| 9 | g.104828891G= | CA1869919899 | ABCA1 | c.2115+25C= (p.=) n.288+25C= c.1935+25C= (p.=) c.2190+25C= (p.=) c.1752+25C= (p.=) c.2052+25C= (p.=) n.2503+25C= | |
| 9 | g.104828891G>T | CA589840225 | ABCA1 | c.2115+25C>A (p.=) n.288+25C>A c.1935+25C>A (p.=) c.2190+25C>A (p.=) c.1752+25C>A (p.=) c.2052+25C>A (p.=) n.2503+25C>A | gnomAD |
| 9 | g.104828895G>A | CA5168817 | ABCA1 | c.2115+21C>T (p.=) n.288+21C>T c.1935+21C>T (p.=) c.2190+21C>T (p.=) c.1752+21C>T (p.=) c.2052+21C>T (p.=) n.2503+21C>T | dbSNP ExAC gnomAD |
| 9 | g.104828895G= | CA1869919905 | ABCA1 | c.2115+21C= (p.=) n.288+21C= c.1935+21C= (p.=) c.2190+21C= (p.=) c.1752+21C= (p.=) c.2052+21C= (p.=) n.2503+21C= | |
| 9 | g.104828895G>T | CA653225138 | ABCA1 | c.2115+21C>A (p.=) n.288+21C>A c.1935+21C>A (p.=) c.2190+21C>A (p.=) c.1752+21C>A (p.=) c.2052+21C>A (p.=) n.2503+21C>A | COSMIC |
| 9 | g.104828896A= | CA1869919910 | ABCA1 | c.2115+20T= (p.=) n.288+20T= c.1935+20T= (p.=) c.2190+20T= (p.=) c.1752+20T= (p.=) c.2052+20T= (p.=) n.2503+20T= | |
| 9 | g.104828896A>G | CA1127662162 | ABCA1 | c.2115+20T>C (p.=) n.288+20T>C c.1935+20T>C (p.=) c.2190+20T>C (p.=) c.1752+20T>C (p.=) c.2052+20T>C (p.=) n.2503+20T>C | |
| 9 | g.104828897G>A | CA5168818 | ABCA1 | c.2115+19C>T (p.=) n.288+19C>T c.1935+19C>T (p.=) c.2190+19C>T (p.=) c.1752+19C>T (p.=) c.2052+19C>T (p.=) n.2503+19C>T | dbSNP ExAC gnomAD |
| 9 | g.104828897G= | CA1869919912 | ABCA1 | c.2115+19C= (p.=) n.288+19C= c.1935+19C= (p.=) c.2190+19C= (p.=) c.1752+19C= (p.=) c.2052+19C= (p.=) n.2503+19C= | |
| 9 | g.104828898C>A | CA858048629 | ABCA1 | c.2115+18G>T (p.=) n.288+18G>T c.1935+18G>T (p.=) c.2190+18G>T (p.=) c.1752+18G>T (p.=) c.2052+18G>T (p.=) n.2503+18G>T | |
| 9 | g.104828898C= | CA1869919915 | ABCA1 | c.2115+18G= (p.=) n.288+18G= c.1935+18G= (p.=) c.2190+18G= (p.=) c.1752+18G= (p.=) c.2052+18G= (p.=) n.2503+18G= | |
| 9 | g.104828898C>G | CA5168820 | ABCA1 | c.2115+18G>C (p.=) n.288+18G>C c.1935+18G>C (p.=) c.2190+18G>C (p.=) c.1752+18G>C (p.=) c.2052+18G>C (p.=) n.2503+18G>C | dbSNP ExAC gnomAD |