Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.46248568_46248569insA | CA2531358787 | GABRA2 | c.*1739_*1740insT (n.*1739_*1740insT) | |
4 | g.46248571T>A | CA2543000994 | GABRA2 | c.*1737A>T (n.*1737A>T) | |
4 | g.46248572A>T | CA2670518830 | GABRA2 | c.*1736T>A (n.*1736T>A) | gnomAD v4 |
4 | g.46248572_46248573insAAATGTGCACTTTATTCA | CA2512014727 | GABRA2 | c.*1736_*1737insGAATAAAGTGCACATTTT (n.*1736_*1737insGAATAAAGTGCACATTTT) | |
4 | g.46248572_46248573insAAATGTGCACTT | CA2516106270 | GABRA2 | c.*1735_*1736insAAGTGCACATTT (n.*1735_*1736insAAGTGCACATTT) | |
4 | g.46248575C>A | CA2670518831 | GABRA2 | c.*1733G>T (n.*1733G>T) | gnomAD v4 |
4 | g.46248576_46248577insTTGAAATAGA | CA2501354472 | GABRA2 | c.*1732_*1733insCTATTTCAAT (n.*1732_*1733insCTATTTCAAT) | |
4 | g.46248577A>G | CA2670518832 | GABRA2 | c.*1731T>C (n.*1731T>C) | gnomAD v4 |
4 | g.46248578G>A | CA1454748783 | GABRA2 | c.*1730C>T (n.*1730C>T) | dbSNP |
4 | g.46248578G>C | CA2508795551 | GABRA2 | c.*1730C>G (n.*1730C>G) | |
4 | g.46248578G= | CA1454748782 | GABRA2 | c.*1730C= (n.*1730C=) | |
4 | g.46248582G>A | CA2670518833 | GABRA2 | c.*1726C>T (n.*1726C>T) | gnomAD v4 |
4 | g.46248582G>T | CA2670518834 | GABRA2 | c.*1726C>A (n.*1726C>A) | gnomAD v4 |
4 | g.46248583C>A | CA2670518835 | GABRA2 | c.*1725G>T (n.*1725G>T) | gnomAD v4 |
4 | g.46248584A>G | CA2670518836 | GABRA2 | c.*1724T>C (n.*1724T>C) | gnomAD v4 |
4 | g.46248587G>C | CA2670518837 | GABRA2 | c.*1721C>G (n.*1721C>G) | gnomAD v4 |
4 | g.46248588C= | CA1454748784 | GABRA2 | c.*1720G= (n.*1720G=) | |
4 | g.46248588C>G | CA2597095062 | GABRA2 | c.*1720G>C (n.*1720G>C) | gnomAD v3 gnomAD v4 |
4 | g.46248588C>T | CA15314017 | GABRA2 | c.*1720G>A (n.*1720G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46248590T>C | CA2514272179 | GABRA2 | c.*1718A>G (n.*1718A>G) | |
4 | g.46248591A= | CA1454748785 | GABRA2 | c.*1717T= (n.*1717T=) | |
4 | g.46248591A>G | CA97076506 | GABRA2 | c.*1717T>C (n.*1717T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46248593A= | CA1454748786 | GABRA2 | c.*1715T= (n.*1715T=) | |
4 | g.46248593A>T | CA795399079 | GABRA2 | c.*1715T>A (n.*1715T>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248594A= | CA1454748787 | GABRA2 | c.*1714T= (n.*1714T=) | |
4 | g.46248594A>G | CA97076508 | GABRA2 | c.*1714T>C (n.*1714T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248597G>A | CA1454748789 | GABRA2 | c.*1711C>T (n.*1711C>T) | dbSNP |
4 | g.46248597G= | CA1454748788 | GABRA2 | c.*1711C= (n.*1711C=) | |
4 | g.46248597G>T | CA1454748790 | GABRA2 | c.*1711C>A (n.*1711C>A) | dbSNP gnomAD v4 |
4 | g.46248599A= | CA1454748791 | GABRA2 | c.*1709T= (n.*1709T=) | |
4 | g.46248599A>G | CA97076510 | GABRA2 | c.*1709T>C (n.*1709T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46248601C>A | CA795399095 | GABRA2 | c.*1707G>T (n.*1707G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248601C= | CA1454748792 | GABRA2 | c.*1707G= (n.*1707G=) | |
4 | g.46248601C>T | CA795399091 | GABRA2 | c.*1707G>A (n.*1707G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248603C>A | CA97076512 | GABRA2 | c.*1705G>T (n.*1705G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.46248603C= | CA1454748793 | GABRA2 | c.*1705G= (n.*1705G=) | |
4 | g.46248605T>A | CA97076514 | GABRA2 | c.*1703A>T (n.*1703A>T) | dbSNP gnomAD v4 |
4 | g.46248605T>C | CA97076516 | GABRA2 | c.*1703A>G (n.*1703A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248605T= | CA1454748794 | GABRA2 | c.*1703A= (n.*1703A=) | |
4 | g.46248606G>A | CA97076518 | GABRA2 | c.*1702C>T (n.*1702C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248606G= | CA1454748795 | GABRA2 | c.*1702C= (n.*1702C=) | |
4 | g.46248606G>T | CA2551708769 | GABRA2 | c.*1702C>A (n.*1702C>A) | gnomAD v4 |
4 | g.46248607G>A | CA2562545375 | GABRA2 | c.*1701C>T (n.*1701C>T) | gnomAD v4 |
4 | g.46248612A= | CA1454748796 | GABRA2 | c.*1696T= (n.*1696T=) | |
4 | g.46248612A>G | CA795399099 | GABRA2 | c.*1696T>C (n.*1696T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248615G= | CA1454748797 | GABRA2 | c.*1693C= (n.*1693C=) | |
4 | g.46248615G>T | CA97076520 | GABRA2 | c.*1693C>A (n.*1693C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.46248616A>C | CA649370666 | GABRA2 | c.*1692T>G (n.*1692T>G) | COSMIC |
4 | g.46248619T>G | CA1454748799 | GABRA2 | c.*1689A>C (n.*1689A>C) | dbSNP |
4 | g.46248619T= | CA1454748798 | GABRA2 | c.*1689A= (n.*1689A=) |