| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.46248771_46248774delinsACTT | CA1454748859 | GABRA2 | c.*1534_*1537delinsAAGT (n.*1534_*1537delinsAAGT) | |
| 4 | g.46248772C= | CA1454748860 | GABRA2 | c.*1536G= (n.*1536G=) | |
| 4 | g.46248772C>T | CA795399174 | GABRA2 | c.*1536G>A (n.*1536G>A) | dbSNP |
| 4 | g.46248772_46248774del | CA795399171 | GABRA2 | c.*1534_*1536del (n.*1534_*1536del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248775A= | CA1454748861 | GABRA2 | c.*1533T= (n.*1533T=) | |
| 4 | g.46248775A>G | CA97076558 | GABRA2 | c.*1533T>C (n.*1533T>C) | dbSNP |
| 4 | g.46248776T>G | CA2597095068 | GABRA2 | c.*1532A>C (n.*1532A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248777G>A | CA2761293593 | GABRA2 | c.*1531C>T (n.*1531C>T) | |
| 4 | g.46248777G>T | CA2670518853 | GABRA2 | c.*1531C>A (n.*1531C>A) | gnomAD v4 |
| 4 | g.46248779T>C | CA1061885142 | GABRA2 | c.*1529A>G (n.*1529A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248779T= | CA1454748862 | GABRA2 | c.*1529A= (n.*1529A=) | |
| 4 | g.46248780T>C | CA2670518854 | GABRA2 | c.*1528A>G (n.*1528A>G) | gnomAD v4 |
| 4 | g.46248788A= | CA1454748863 | GABRA2 | c.*1520T= (n.*1520T=) | |
| 4 | g.46248788A>G | CA1454748864 | GABRA2 | c.*1520T>C (n.*1520T>C) | dbSNP |
| 4 | g.46248796C= | CA1454748865 | GABRA2 | c.*1512G= (n.*1512G=) | |
| 4 | g.46248796C>G | CA97076559 | GABRA2 | c.*1512G>C (n.*1512G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46248796C>T | CA97076561 | GABRA2 | c.*1512G>A (n.*1512G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248797G>A | CA649370668 | GABRA2 | c.*1511C>T (n.*1511C>T) | dbSNP gnomAD v4 COSMIC |
| 4 | g.46248797G= | CA1454748866 | GABRA2 | c.*1511C= (n.*1511C=) | |
| 4 | g.46248801A= | CA1454748867 | GABRA2 | c.*1507T= (n.*1507T=) | |
| 4 | g.46248801A>G | CA795399179 | GABRA2 | c.*1507T>C (n.*1507T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248802G>A | CA1061885145 | GABRA2 | c.*1506C>T (n.*1506C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248802G= | CA1454748868 | GABRA2 | c.*1506C= (n.*1506C=) | |
| 4 | g.46248803G>A | CA795399180 | GABRA2 | c.*1505C>T (n.*1505C>T) | dbSNP |
| 4 | g.46248803G= | CA1454748869 | GABRA2 | c.*1505C= (n.*1505C=) | |
| 4 | g.46248805G>A | CA1454748871 | GABRA2 | c.*1503C>T (n.*1503C>T) | dbSNP gnomAD v4 |
| 4 | g.46248805G= | CA1454748870 | GABRA2 | c.*1503C= (n.*1503C=) | |
| 4 | g.46248805G>T | CA97076563 | GABRA2 | c.*1503C>A (n.*1503C>A) | dbSNP |
| 4 | g.46248806C= | CA1454748872 | GABRA2 | c.*1502G= (n.*1502G=) | |
| 4 | g.46248806C>T | CA97076565 | GABRA2 | c.*1502G>A (n.*1502G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46248808T>G | CA1454748874 | GABRA2 | c.*1500A>C (n.*1500A>C) | dbSNP |
| 4 | g.46248808T= | CA1454748873 | GABRA2 | c.*1500A= (n.*1500A=) | |
| 4 | g.46248809G>T | CA2670518855 | GABRA2 | c.*1499C>A (n.*1499C>A) | gnomAD v4 |
| 4 | g.46248810T>C | CA2670518856 | GABRA2 | c.*1498A>G (n.*1498A>G) | gnomAD v4 |
| 4 | g.46248815G>A | CA2705704047 | GABRA2 | c.*1493C>T (n.*1493C>T) | dbSNP |
| 4 | g.46248820A= | CA1454748875 | GABRA2 | c.*1488T= (n.*1488T=) | |
| 4 | g.46248820A>G | CA1454748876 | GABRA2 | c.*1488T>C (n.*1488T>C) | dbSNP |
| 4 | g.46248822T>G | CA795399185 | GABRA2 | c.*1486A>C (n.*1486A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248822T= | CA1454748877 | GABRA2 | c.*1486A= (n.*1486A=) | |
| 4 | g.46248823C>A | CA2670518857 | GABRA2 | c.*1485G>T (n.*1485G>T) | gnomAD v4 |
| 4 | g.46248823C= | CA1454748878 | GABRA2 | c.*1485G= (n.*1485G=) | |
| 4 | g.46248823C>T | CA1454748879 | GABRA2 | c.*1485G>A (n.*1485G>A) | dbSNP |
| 4 | g.46248825A= | CA1454748880 | GABRA2 | c.*1483T= (n.*1483T=) | |
| 4 | g.46248825A>G | CA795399186 | GABRA2 | c.*1483T>C (n.*1483T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248830T>C | CA1061885147 | GABRA2 | c.*1478A>G (n.*1478A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248830T= | CA1454748881 | GABRA2 | c.*1478A= (n.*1478A=) | |
| 4 | g.46248833C>A | CA2670518858 | GABRA2 | c.*1475G>T (n.*1475G>T) | gnomAD v4 |
| 4 | g.46248834T>C | CA2561012790 | GABRA2 | c.*1474A>G (n.*1474A>G) | |
| 4 | g.46248836C= | CA1454748882 | GABRA2 | c.*1472G= (n.*1472G=) | |
| 4 | g.46248836C>T | CA97076567 | GABRA2 | c.*1472G>A (n.*1472G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248840T>A | CA1454748884 | GABRA2 | c.*1468A>T (n.*1468A>T) | dbSNP |
| 4 | g.46248840T>C | CA1454748885 | GABRA2 | c.*1468A>G (n.*1468A>G) | dbSNP |
| 4 | g.46248840T= | CA1454748883 | GABRA2 | c.*1468A= (n.*1468A=) | |
| 4 | g.46248844C>A | CA2761293594 | GABRA2 | c.*1464G>T (n.*1464G>T) | |
| 4 | g.46248844_46248856delinsCATGTCAATCAAA | CA1454748886 | GABRA2 | c.*1452_*1464delinsTTTGATTGACATG (n.*1452_*1464delinsTTTGATTGACATG) | |
| 4 | g.46248846_46248857del | CA1454748887 | GABRA2 | c.*1452_*1463del (n.*1452_*1463del) | dbSNP |
| 4 | g.46248847G>T | CA2670518859 | GABRA2 | c.*1461C>A (n.*1461C>A) | gnomAD v4 |
| 4 | g.46248849C>A | CA2670518860 | GABRA2 | c.*1459G>T (n.*1459G>T) | gnomAD v4 |
| 4 | g.46248849C= | CA1454748888 | GABRA2 | c.*1459G= (n.*1459G=) | |
| 4 | g.46248849C>G | CA795399192 | GABRA2 | c.*1459G>C (n.*1459G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248849C>T | CA2761293595 | GABRA2 | c.*1459G>A (n.*1459G>A) | |
| 4 | g.46248852_46248900delinsTCAAAAGTATTTGAAGTTTGCCAAAAACTTTGAATCTAGGCATAATACA | CA1454748889 | GABRA2 | c.*1408_*1456delinsTGTATTATGCCTAGATTCAAAGTTTTTGGCAAACTTCAAATACTTTTGA (n.*1408_*1456delinsTGTATTATGCCTAGATTCAAAGTTTTTGGCAAACTTCAAATACTTTTGA) | |
| 4 | g.46248853C>A | CA2670518861 | GABRA2 | c.*1455G>T (n.*1455G>T) | gnomAD v4 |
| 4 | g.46248856_46248903del | CA1061885149 | GABRA2 | c.*1408_*1455del (n.*1408_*1455del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248858G>A | CA1454748891 | GABRA2 | c.*1450C>T (n.*1450C>T) | dbSNP |
| 4 | g.46248858G= | CA1454748890 | GABRA2 | c.*1450C= (n.*1450C=) | |
| 4 | g.46248859T>C | CA97076570 | GABRA2 | c.*1449A>G (n.*1449A>G) | dbSNP |
| 4 | g.46248859T= | CA1454748892 | GABRA2 | c.*1449A= (n.*1449A=) | |
| 4 | g.46248861T>C | CA795399195 | GABRA2 | c.*1447A>G (n.*1447A>G) | dbSNP |
| 4 | g.46248861T= | CA1454748893 | GABRA2 | c.*1447A= (n.*1447A=) | |
| 4 | g.46248862T>C | CA2761293596 | GABRA2 | c.*1446A>G (n.*1446A>G) | |
| 4 | g.46248862T>G | CA1454748895 | GABRA2 | c.*1446A>C (n.*1446A>C) | dbSNP |
| 4 | g.46248862T= | CA1454748894 | GABRA2 | c.*1446A= (n.*1446A=) | |
| 4 | g.46248866A>G | CA2705704166 | GABRA2 | c.*1442T>C (n.*1442T>C) | dbSNP |
| 4 | g.46248867G>A | CA1454748897 | GABRA2 | c.*1441C>T (n.*1441C>T) | dbSNP |
| 4 | g.46248867G= | CA1454748896 | GABRA2 | c.*1441C= (n.*1441C=) | |
| 4 | g.46248867G>T | CA795399196 | GABRA2 | c.*1441C>A (n.*1441C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248868T>G | CA795399197 | GABRA2 | c.*1440A>C (n.*1440A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46248868T= | CA1454748898 | GABRA2 | c.*1440A= (n.*1440A=) | |
| 4 | g.46248869T>G | CA795399200 | GABRA2 | c.*1439A>C (n.*1439A>C) | dbSNP |
| 4 | g.46248869T= | CA1454748899 | GABRA2 | c.*1439A= (n.*1439A=) | |
| 4 | g.46248871G>A | CA2670518862 | GABRA2 | c.*1437C>T (n.*1437C>T) | gnomAD v4 |