Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.69433167_69433168insGTTTTTTTTTTTTTTTT | CA2674131347 | MARVELD2 | c.1503+74_1503+75insGTTTTTTTTTTTTTTTT (n.1503+74_1503+75insGTTTTTTTTTTTTTTTT) c.1155+74_1155+75insGTTTTTTTTTTTTTTTT (n.1155+74_1155+75insGTTTTTTTTTTTTTTTT) c.1467+74_1467+75insGTTTTTTTTTTTTTTTT (n.1467+74_1467+75insGTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433168_69433169insGTTTTTTTTTTTTTTTT | CA2674131344 | MARVELD2 | c.1503+75_1503+76insGTTTTTTTTTTTTTTTT (n.1503+75_1503+76insGTTTTTTTTTTTTTTTT) c.1155+75_1155+76insGTTTTTTTTTTTTTTTT (n.1155+75_1155+76insGTTTTTTTTTTTTTTTT) c.1467+75_1467+76insGTTTTTTTTTTTTTTTT (n.1467+75_1467+76insGTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433170_69433171insGTTTTTTTTTTTTTTTTTT | CA2766864547 | MARVELD2 | c.1503+77_1503+78insGTTTTTTTTTTTTTTTTTT (n.1503+77_1503+78insGTTTTTTTTTTTTTTTTTT) c.1155+77_1155+78insGTTTTTTTTTTTTTTTTTT (n.1155+77_1155+78insGTTTTTTTTTTTTTTTTTT) c.1467+77_1467+78insGTTTTTTTTTTTTTTTTTT (n.1467+77_1467+78insGTTTTTTTTTTTTTTTTTT) | |
5 | g.69433172_69433173insGTTTTTTTTTTTTTTTTTTT | CA2766864546 | MARVELD2 | c.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTT (n.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTT) c.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTT (n.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTT) c.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTT (n.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433172_69433173insGTTTTTTTTTTTTTTTTTTTTTTT | CA2766864545 | MARVELD2 | c.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTTTTTT (n.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTTTTTT) c.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTTTTTT (n.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTTTTTT) c.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTTTTTT (n.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433174_69433175insGTTTTTTTTTTTTTTTTTTTTTTT | CA2766864544 | MARVELD2 | c.1503+81_1503+82insGTTTTTTTTTTTTTTTTTTTTTTT (n.1503+81_1503+82insGTTTTTTTTTTTTTTTTTTTTTTT) c.1155+81_1155+82insGTTTTTTTTTTTTTTTTTTTTTTT (n.1155+81_1155+82insGTTTTTTTTTTTTTTTTTTTTTTT) c.1467+81_1467+82insGTTTTTTTTTTTTTTTTTTTTTTT (n.1467+81_1467+82insGTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433176_69433177insGTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131339 | MARVELD2 | c.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433176_69433177insGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131327 | MARVELD2 | c.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864543 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201734 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201719 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201695 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201830 | MARVELD2 | c.1503+84_1503+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201703 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2599056850 | MARVELD2 | c.1503+84_1503+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201710 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201713 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131319 | MARVELD2 | c.1503+84_1503+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201709 | MARVELD2 | c.1503+84_1503+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201712 | MARVELD2 | c.1503+84_1503+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201715 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864536 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2740648405 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201716 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131318 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864528 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864525 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201717 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177dup | CA120002736 | MARVELD2 | c.1503+84dup (n.1503+84dup) c.1155+84dup (n.1155+84dup) c.1467+84dup (n.1467+84dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433176_69433177dup | CA560299439 | MARVELD2 | c.1503+83_1503+84dup (n.1503+83_1503+84dup) c.1155+83_1155+84dup (n.1155+83_1155+84dup) c.1467+83_1467+84dup (n.1467+83_1467+84dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433175_69433177dup | CA560299440 | MARVELD2 | c.1503+82_1503+84dup (n.1503+82_1503+84dup) c.1155+82_1155+84dup (n.1155+82_1155+84dup) c.1467+82_1467+84dup (n.1467+82_1467+84dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433174_69433177dup | CA1077201768 | MARVELD2 | c.1503+81_1503+84dup (n.1503+81_1503+84dup) c.1155+81_1155+84dup (n.1155+81_1155+84dup) c.1467+81_1467+84dup (n.1467+81_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433173_69433177dup | CA560299441 | MARVELD2 | c.1503+80_1503+84dup (n.1503+80_1503+84dup) c.1155+80_1155+84dup (n.1155+80_1155+84dup) c.1467+80_1467+84dup (n.1467+80_1467+84dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433172_69433177dup | CA1077201778 | MARVELD2 | c.1503+79_1503+84dup (n.1503+79_1503+84dup) c.1155+79_1155+84dup (n.1155+79_1155+84dup) c.1467+79_1467+84dup (n.1467+79_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433171_69433177dup | CA1077201779 | MARVELD2 | c.1503+78_1503+84dup (n.1503+78_1503+84dup) c.1155+78_1155+84dup (n.1155+78_1155+84dup) c.1467+78_1467+84dup (n.1467+78_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433170_69433177dup | CA1077201786 | MARVELD2 | c.1503+77_1503+84dup (n.1503+77_1503+84dup) c.1155+77_1155+84dup (n.1155+77_1155+84dup) c.1467+77_1467+84dup (n.1467+77_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433169_69433177dup | CA1077201837 | MARVELD2 | c.1503+76_1503+84dup (n.1503+76_1503+84dup) c.1155+76_1155+84dup (n.1155+76_1155+84dup) c.1467+76_1467+84dup (n.1467+76_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433168_69433177dup | CA1077201791 | MARVELD2 | c.1503+75_1503+84dup (n.1503+75_1503+84dup) c.1155+75_1155+84dup (n.1155+75_1155+84dup) c.1467+75_1467+84dup (n.1467+75_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433167_69433177dup | CA1077201793 | MARVELD2 | c.1503+74_1503+84dup (n.1503+74_1503+84dup) c.1155+74_1155+84dup (n.1155+74_1155+84dup) c.1467+74_1467+84dup (n.1467+74_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433166_69433177dup | CA1077201796 | MARVELD2 | c.1503+73_1503+84dup (n.1503+73_1503+84dup) c.1155+73_1155+84dup (n.1155+73_1155+84dup) c.1467+73_1467+84dup (n.1467+73_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433165_69433177dup | CA2674131349 | MARVELD2 | c.1503+72_1503+84dup (n.1503+72_1503+84dup) c.1155+72_1155+84dup (n.1155+72_1155+84dup) c.1467+72_1467+84dup (n.1467+72_1467+84dup) | gnomAD v4 |
5 | g.69433164_69433177dup | CA1077201808 | MARVELD2 | c.1503+71_1503+84dup (n.1503+71_1503+84dup) c.1155+71_1155+84dup (n.1155+71_1155+84dup) c.1467+71_1467+84dup (n.1467+71_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433163_69433177dup | CA1077201813 | MARVELD2 | c.1503+70_1503+84dup (n.1503+70_1503+84dup) c.1155+70_1155+84dup (n.1155+70_1155+84dup) c.1467+70_1467+84dup (n.1467+70_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433161_69433177dup | CA1077201819 | MARVELD2 | c.1503+68_1503+84dup (n.1503+68_1503+84dup) c.1155+68_1155+84dup (n.1155+68_1155+84dup) c.1467+68_1467+84dup (n.1467+68_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433159_69433177dup | CA2674131341 | MARVELD2 | c.1503+66_1503+84dup (n.1503+66_1503+84dup) c.1155+66_1155+84dup (n.1155+66_1155+84dup) c.1467+66_1467+84dup (n.1467+66_1467+84dup) | gnomAD v4 |
5 | g.69433158_69433177dup | CA1077201821 | MARVELD2 | c.1503+65_1503+84dup (n.1503+65_1503+84dup) c.1155+65_1155+84dup (n.1155+65_1155+84dup) c.1467+65_1467+84dup (n.1467+65_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433157_69433177dup | CA1077201825 | MARVELD2 | c.1503+64_1503+84dup (n.1503+64_1503+84dup) c.1155+64_1155+84dup (n.1155+64_1155+84dup) c.1467+64_1467+84dup (n.1467+64_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433177del | CA813512849 | MARVELD2 | c.1503+84del (n.1503+84del) c.1155+84del (n.1155+84del) c.1467+84del (n.1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433176_69433177del | CA813512851 | MARVELD2 | c.1503+83_1503+84del (n.1503+83_1503+84del) c.1155+83_1155+84del (n.1155+83_1155+84del) c.1467+83_1467+84del (n.1467+83_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433175_69433177del | CA813512856 | MARVELD2 | c.1503+82_1503+84del (n.1503+82_1503+84del) c.1155+82_1155+84del (n.1155+82_1155+84del) c.1467+82_1467+84del (n.1467+82_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433174_69433177del | CA560299437 | MARVELD2 | c.1503+81_1503+84del (n.1503+81_1503+84del) c.1155+81_1155+84del (n.1155+81_1155+84del) c.1467+81_1467+84del (n.1467+81_1467+84del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433173_69433177del | CA813512850 | MARVELD2 | c.1503+80_1503+84del (n.1503+80_1503+84del) c.1155+80_1155+84del (n.1155+80_1155+84del) c.1467+80_1467+84del (n.1467+80_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433172_69433177del | CA813512853 | MARVELD2 | c.1503+79_1503+84del (n.1503+79_1503+84del) c.1155+79_1155+84del (n.1155+79_1155+84del) c.1467+79_1467+84del (n.1467+79_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433171_69433177del | CA813512852 | MARVELD2 | c.1503+78_1503+84del (n.1503+78_1503+84del) c.1155+78_1155+84del (n.1155+78_1155+84del) c.1467+78_1467+84del (n.1467+78_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433170_69433177del | CA813512854 | MARVELD2 | c.1503+77_1503+84del (n.1503+77_1503+84del) c.1155+77_1155+84del (n.1155+77_1155+84del) c.1467+77_1467+84del (n.1467+77_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433169_69433177del | CA444794089 | MARVELD2 | c.1503+76_1503+84del (n.1503+76_1503+84del) c.1155+76_1155+84del (n.1155+76_1155+84del) c.1467+76_1467+84del (n.1467+76_1467+84del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433168_69433177del | CA813512855 | MARVELD2 | c.1503+75_1503+84del (n.1503+75_1503+84del) c.1155+75_1155+84del (n.1155+75_1155+84del) c.1467+75_1467+84del (n.1467+75_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433167_69433177del | CA813512857 | MARVELD2 | c.1503+74_1503+84del (n.1503+74_1503+84del) c.1155+74_1155+84del (n.1155+74_1155+84del) c.1467+74_1467+84del (n.1467+74_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433166_69433177del | CA649636556 | MARVELD2 | c.1503+73_1503+84del (n.1503+73_1503+84del) c.1155+73_1155+84del (n.1155+73_1155+84del) c.1467+73_1467+84del (n.1467+73_1467+84del) | dbSNP gnomAD v4 COSMIC |
5 | g.69433165_69433177del | CA2674131321 | MARVELD2 | c.1503+72_1503+84del (n.1503+72_1503+84del) c.1155+72_1155+84del (n.1155+72_1155+84del) c.1467+72_1467+84del (n.1467+72_1467+84del) | gnomAD v4 |
5 | g.69433164_69433177del | CA2674131322 | MARVELD2 | c.1503+71_1503+84del (n.1503+71_1503+84del) c.1155+71_1155+84del (n.1155+71_1155+84del) c.1467+71_1467+84del (n.1467+71_1467+84del) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTGTTTTTTTTTTTTTT | CA2674131396 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTGTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTGTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTGTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTGTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTGTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTGTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433167T>G | CA2674131402 | MARVELD2 | c.1503+74T>G (n.1503+74T>G) c.1155+74T>G (n.1155+74T>G) c.1467+74T>G (n.1467+74T>G) | gnomAD v4 |
5 | g.69433173_69433174insGTTTTTTT | CA2766863499 | MARVELD2 | c.1503+80_1503+81insGTTTTTTT (n.1503+80_1503+81insGTTTTTTT) c.1155+80_1155+81insGTTTTTTT (n.1155+80_1155+81insGTTTTTTT) c.1467+80_1467+81insGTTTTTTT (n.1467+80_1467+81insGTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTGTTTTTTTTTT | CA1077201863 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTGTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTGTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTGTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTGTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTGTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTGTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433169T>C | CA2535663471 | MARVELD2 | c.1503+76T>C (n.1503+76T>C) c.1155+76T>C (n.1155+76T>C) c.1467+76T>C (n.1467+76T>C) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT | CA1077201866 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433171T>C | CA2674131403 | MARVELD2 | c.1503+78T>C (n.1503+78T>C) c.1155+78T>C (n.1155+78T>C) c.1467+78T>C (n.1467+78T>C) | gnomAD v4 |
5 | g.69433172T>A | CA2674131405 | MARVELD2 | c.1503+79T>A (n.1503+79T>A) c.1155+79T>A (n.1155+79T>A) c.1467+79T>A (n.1467+79T>A) | gnomAD v4 |
5 | g.69433172T>C | CA2674131406 | MARVELD2 | c.1503+79T>C (n.1503+79T>C) c.1155+79T>C (n.1155+79T>C) c.1467+79T>C (n.1467+79T>C) | gnomAD v4 |
5 | g.69433172_69433173insC | CA2508051385 | MARVELD2 | c.1503+79_1503+80insC (n.1503+79_1503+80insC) c.1155+79_1155+80insC (n.1155+79_1155+80insC) c.1467+79_1467+80insC (n.1467+79_1467+80insC) | |
5 | g.69433173T>G | CA2578329460 | MARVELD2 | c.1503+80T>G (n.1503+80T>G) c.1155+80T>G (n.1155+80T>G) c.1467+80T>G (n.1467+80T>G) | |
5 | g.69433173_69433174insCT | CA2674131407 | MARVELD2 | c.1503+80_1503+81insCT (n.1503+80_1503+81insCT) c.1155+80_1155+81insCT (n.1155+80_1155+81insCT) c.1467+80_1467+81insCT (n.1467+80_1467+81insCT) | gnomAD v4 |
5 | g.69433174T>C | CA560299442 | MARVELD2 | c.1503+81T>C (n.1503+81T>C) c.1155+81T>C (n.1155+81T>C) c.1467+81T>C (n.1467+81T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433174T= | CA1553927620 | MARVELD2 | c.1503+81T= (n.1503+81T=) c.1155+81T= (n.1155+81T=) c.1467+81T= (n.1467+81T=) | |
5 | g.69433177_69433178insTTTGTTTT | CA1077201871 | MARVELD2 | c.1503+84_1503+85insTTTGTTTT (n.1503+84_1503+85insTTTGTTTT) c.1155+84_1155+85insTTTGTTTT (n.1155+84_1155+85insTTTGTTTT) c.1467+84_1467+85insTTTGTTTT (n.1467+84_1467+85insTTTGTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTGTTTT | CA560299443 | MARVELD2 | c.1503+84_1503+85insTTTTTGTTTT (n.1503+84_1503+85insTTTTTGTTTT) c.1155+84_1155+85insTTTTTGTTTT (n.1155+84_1155+85insTTTTTGTTTT) c.1467+84_1467+85insTTTTTGTTTT (n.1467+84_1467+85insTTTTTGTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433174_69433178delinsTTTTC | CA1553927623 | MARVELD2 | c.1503+81_1503+85delinsTTTTC (n.1503+81_1503+85delinsTTTTC) c.1155+81_1155+85delinsTTTTC (n.1155+81_1155+85delinsTTTTC) c.1467+81_1467+85delinsTTTTC (n.1467+81_1467+85delinsTTTTC) | |
5 | g.69433175_69433179del | CA2674131409 | MARVELD2 | c.1503+82_1503+86del (n.1503+82_1503+86del) c.1155+82_1155+86del (n.1155+82_1155+86del) c.1467+82_1467+86del (n.1467+82_1467+86del) | gnomAD v4 |
5 | g.69433175T>A | CA2674131419 | MARVELD2 | c.1503+82T>A (n.1503+82T>A) c.1155+82T>A (n.1155+82T>A) c.1467+82T>A (n.1467+82T>A) | gnomAD v4 |
5 | g.69433175T>C | CA813512858 | MARVELD2 | c.1503+82T>C (n.1503+82T>C) c.1155+82T>C (n.1155+82T>C) c.1467+82T>C (n.1467+82T>C) | dbSNP gnomAD v4 |
5 | g.69433175T>G | CA2674131421 | MARVELD2 | c.1503+82T>G (n.1503+82T>G) c.1155+82T>G (n.1155+82T>G) c.1467+82T>G (n.1467+82T>G) | gnomAD v4 |
5 | g.69433175T= | CA1553927625 | MARVELD2 | c.1503+82T= (n.1503+82T=) c.1155+82T= (n.1155+82T=) c.1467+82T= (n.1467+82T=) | |
5 | g.69433177_69433178insGTTT | CA2766863506 | MARVELD2 | c.1503+84_1503+85insGTTT (n.1503+84_1503+85insGTTT) c.1155+84_1155+85insGTTT (n.1155+84_1155+85insGTTT) c.1467+84_1467+85insGTTT (n.1467+84_1467+85insGTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTGTTT | CA2766863503 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTGTTT (n.1503+84_1503+85insTTTTTTTTTTTGTTT) c.1155+84_1155+85insTTTTTTTTTTTGTTT (n.1155+84_1155+85insTTTTTTTTTTTGTTT) c.1467+84_1467+85insTTTTTTTTTTTGTTT (n.1467+84_1467+85insTTTTTTTTTTTGTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTGTTT | CA2766863505 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTGTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTGTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTGTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTGTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTGTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTGTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT | CA560299445 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT) | dbSNP gnomAD v2 |
5 | g.69433176_69433179del | CA1553927626 | MARVELD2 | c.1503+83_1503+86del (n.1503+83_1503+86del) c.1155+83_1155+86del (n.1155+83_1155+86del) c.1467+83_1467+86del (n.1467+83_1467+86del) | dbSNP gnomAD v4 |
5 | g.69433175_69433176insC | CA1553927629 | MARVELD2 | c.1503+82_1503+83insC (n.1503+82_1503+83insC) c.1155+82_1155+83insC (n.1155+82_1155+83insC) c.1467+82_1467+83insC (n.1467+82_1467+83insC) | dbSNP gnomAD v4 |
5 | g.69433176T>C | CA1553927630 | MARVELD2 | c.1503+83T>C (n.1503+83T>C) c.1155+83T>C (n.1155+83T>C) c.1467+83T>C (n.1467+83T>C) | dbSNP gnomAD v4 |
5 | g.69433176T>G | CA2674131434 | MARVELD2 | c.1503+83T>G (n.1503+83T>G) c.1155+83T>G (n.1155+83T>G) c.1467+83T>G (n.1467+83T>G) | gnomAD v4 |
5 | g.69433176T= | CA1553927628 | MARVELD2 | c.1503+83T= (n.1503+83T=) c.1155+83T= (n.1155+83T=) c.1467+83T= (n.1467+83T=) | |
5 | g.69433176_69433177insAT | CA2674131430 | MARVELD2 | c.1503+83_1503+84insAT (n.1503+83_1503+84insAT) c.1155+83_1155+84insAT (n.1155+83_1155+84insAT) c.1467+83_1467+84insAT (n.1467+83_1467+84insAT) | gnomAD v4 |
5 | g.69433177_69433179del | CA2674131432 | MARVELD2 | c.1503+84_1503+86del (n.1503+84_1503+86del) c.1155+84_1155+86del (n.1155+84_1155+86del) c.1467+84_1467+86del (n.1467+84_1467+86del) | gnomAD v4 |
5 | g.69433176_69433177insA | CA2674131439 | MARVELD2 | c.1503+83_1503+84insA (n.1503+83_1503+84insA) c.1155+83_1155+84insA (n.1155+83_1155+84insA) c.1467+83_1467+84insA (n.1467+83_1467+84insA) | gnomAD v4 |
5 | g.69433177T>C | CA120002746 | MARVELD2 | c.1503+84T>C (n.1503+84T>C) c.1155+84T>C (n.1155+84T>C) c.1467+84T>C (n.1467+84T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433177T= | CA1553927633 | MARVELD2 | c.1503+84T= (n.1503+84T=) c.1155+84T= (n.1155+84T=) c.1467+84T= (n.1467+84T=) | |
5 | g.69433177_69433178insGT | CA2516012616 | MARVELD2 | c.1503+84_1503+85insGT (n.1503+84_1503+85insGT) c.1155+84_1155+85insGT (n.1155+84_1155+85insGT) c.1467+84_1467+85insGT (n.1467+84_1467+85insGT) | |
5 | g.69433177_69433178insTCT | CA2674131443 | MARVELD2 | c.1503+84_1503+85insTCT (n.1503+84_1503+85insTCT) c.1155+84_1155+85insTCT (n.1155+84_1155+85insTCT) c.1467+84_1467+85insTCT (n.1467+84_1467+85insTCT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTGT | CA2599056856 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTGT (n.1503+84_1503+85insTTTTTTTTTTTGT) c.1155+84_1155+85insTTTTTTTTTTTGT (n.1155+84_1155+85insTTTTTTTTTTTGT) c.1467+84_1467+85insTTTTTTTTTTTGT (n.1467+84_1467+85insTTTTTTTTTTTGT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178delinsTC | CA1553927635 | MARVELD2 | c.1503+84_1503+85delinsTC (n.1503+84_1503+85delinsTC) c.1155+84_1155+85delinsTC (n.1155+84_1155+85delinsTC) c.1467+84_1467+85delinsTC (n.1467+84_1467+85delinsTC) | |
5 | g.69433178_69433179dup | CA2674131441 | MARVELD2 | c.1503+85_1503+86dup (n.1503+85_1503+86dup) c.1155+85_1155+86dup (n.1155+85_1155+86dup) c.1467+85_1467+86dup (n.1467+85_1467+86dup) | gnomAD v4 |
5 | g.69433178_69433179del | CA2674131446 | MARVELD2 | c.1503+85_1503+86del (n.1503+85_1503+86del) c.1155+85_1155+86del (n.1155+85_1155+86del) c.1467+85_1467+86del (n.1467+85_1467+86del) | gnomAD v4 |
5 | g.69433177_69433178insTC | CA2674131462 | MARVELD2 | c.1503+84_1503+85insTC (n.1503+84_1503+85insTC) c.1155+84_1155+85insTC (n.1155+84_1155+85insTC) c.1467+84_1467+85insTC (n.1467+84_1467+85insTC) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTG | CA2766863524 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTG (n.1503+84_1503+85insTTTTTTTTTTTTTTTTG) c.1155+84_1155+85insTTTTTTTTTTTTTTTTG (n.1155+84_1155+85insTTTTTTTTTTTTTTTTG) c.1467+84_1467+85insTTTTTTTTTTTTTTTTG (n.1467+84_1467+85insTTTTTTTTTTTTTTTTG) | |
5 | g.69433178del | CA560299446 | MARVELD2 | c.1503+85del (n.1503+85del) c.1155+85del (n.1155+85del) c.1467+85del (n.1467+85del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433178C>A | CA1077201896 | MARVELD2 | c.1503+85C>A (n.1503+85C>A) c.1155+85C>A (n.1155+85C>A) c.1467+85C>A (n.1467+85C>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433178C= | CA1553927639 | MARVELD2 | c.1503+85C= (n.1503+85C=) c.1155+85C= (n.1155+85C=) c.1467+85C= (n.1467+85C=) | |
5 | g.69433178C>G | CA1077201897 | MARVELD2 | c.1503+85C>G (n.1503+85C>G) c.1155+85C>G (n.1155+85C>G) c.1467+85C>G (n.1467+85C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433178C>T | CA120002748 | MARVELD2 | c.1503+85C>T (n.1503+85C>T) c.1155+85C>T (n.1155+85C>T) c.1467+85C>T (n.1467+85C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433178dup | CA1077201879 | MARVELD2 | c.1503+85dup (n.1503+85dup) c.1155+85dup (n.1155+85dup) c.1467+85dup (n.1467+85dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433178_69433180del | CA2578329461 | MARVELD2 | c.1503+85_1503+87del (n.1503+85_1503+87del) c.1155+85_1155+87del (n.1155+85_1155+87del) c.1467+85_1467+87del (n.1467+85_1467+87del) | |
5 | g.69433178_69433190del | CA1077201894 | MARVELD2 | c.1503+85_1503+97del (n.1503+85_1503+97del) c.1155+85_1155+97del (n.1155+85_1155+97del) c.1467+85_1467+97del (n.1467+85_1467+97del) | gnomAD v3 gnomAD v4 |
5 | g.69433178_69433192del | CA1077201895 | MARVELD2 | c.1503+85_1503+99del (n.1503+85_1503+99del) c.1155+85_1155+99del (n.1155+85_1155+99del) c.1467+85_1467+99del (n.1467+85_1467+99del) | gnomAD v3 gnomAD v4 |
5 | g.69433178_69433179insG | CA1077201902 | MARVELD2 | c.1503+85_1503+86insG (n.1503+85_1503+86insG) c.1155+85_1155+86insG (n.1155+85_1155+86insG) c.1467+85_1467+86insG (n.1467+85_1467+86insG) | dbSNP |
5 | g.69433179T>A | CA2674131467 | MARVELD2 | c.1503+86T>A (n.1503+86T>A) c.1155+86T>A (n.1155+86T>A) c.1467+86T>A (n.1467+86T>A) | gnomAD v4 |
5 | g.69433179T>G | CA2544243805 | MARVELD2 | c.1503+86T>G (n.1503+86T>G) c.1155+86T>G (n.1155+86T>G) c.1467+86T>G (n.1467+86T>G) | |
5 | g.69433179_69433180insTTTTG | CA1077201910 | MARVELD2 | c.1503+86_1503+87insTTTTG (n.1503+86_1503+87insTTTTG) c.1155+86_1155+87insTTTTG (n.1155+86_1155+87insTTTTG) c.1467+86_1467+87insTTTTG (n.1467+86_1467+87insTTTTG) | gnomAD v3 gnomAD v4 |
5 | g.69433180G>A | CA2766863528 | MARVELD2 | c.1503+87G>A (n.1503+87G>A) c.1155+87G>A (n.1155+87G>A) c.1467+87G>A (n.1467+87G>A) | |
5 | g.69433180G= | CA1553927643 | MARVELD2 | c.1503+87G= (n.1503+87G=) c.1155+87G= (n.1155+87G=) c.1467+87G= (n.1467+87G=) | |
5 | g.69433180G>T | CA560299447 | MARVELD2 | c.1503+87G>T (n.1503+87G>T) c.1155+87G>T (n.1155+87G>T) c.1467+87G>T (n.1467+87G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433180_69433190del | CA1077201915 | MARVELD2 | c.1503+87_1503+97del (n.1503+87_1503+97del) c.1155+87_1155+97del (n.1155+87_1155+97del) c.1467+87_1467+97del (n.1467+87_1467+97del) | gnomAD v3 gnomAD v4 |
5 | g.69433180_69433192del | CA1077201923 | MARVELD2 | c.1503+87_1503+99del (n.1503+87_1503+99del) c.1155+87_1155+99del (n.1155+87_1155+99del) c.1467+87_1467+99del (n.1467+87_1467+99del) | gnomAD v3 gnomAD v4 |
5 | g.69433181T>A | CA2674131475 | MARVELD2 | c.1503+88T>A (n.1503+88T>A) c.1155+88T>A (n.1155+88T>A) c.1467+88T>A (n.1467+88T>A) | gnomAD v4 |
5 | g.69433181T>C | CA2578329462 | MARVELD2 | c.1503+88T>C (n.1503+88T>C) c.1155+88T>C (n.1155+88T>C) c.1467+88T>C (n.1467+88T>C) | gnomAD v4 |
5 | g.69433181T>G | CA120002750 | MARVELD2 | c.1503+88T>G (n.1503+88T>G) c.1155+88T>G (n.1155+88T>G) c.1467+88T>G (n.1467+88T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433181T= | CA1553927645 | MARVELD2 | c.1503+88T= (n.1503+88T=) c.1155+88T= (n.1155+88T=) c.1467+88T= (n.1467+88T=) | |
5 | g.69433182G>A | CA1553927649 | MARVELD2 | c.1503+89G>A (n.1503+89G>A) c.1155+89G>A (n.1155+89G>A) c.1467+89G>A (n.1467+89G>A) | dbSNP gnomAD v4 |
5 | g.69433182G= | CA1553927648 | MARVELD2 | c.1503+89G= (n.1503+89G=) c.1155+89G= (n.1155+89G=) c.1467+89G= (n.1467+89G=) | |
5 | g.69433182G>T | CA560299448 | MARVELD2 | c.1503+89G>T (n.1503+89G>T) c.1155+89G>T (n.1155+89G>T) c.1467+89G>T (n.1467+89G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433184_69433185del | CA1077201926 | MARVELD2 | c.1503+91_1503+92del (n.1503+91_1503+92del) c.1155+91_1155+92del (n.1155+91_1155+92del) c.1467+91_1467+92del (n.1467+91_1467+92del) | gnomAD v3 gnomAD v4 |
5 | g.69433182_69433190del | CA1077201941 | MARVELD2 | c.1503+89_1503+97del (n.1503+89_1503+97del) c.1155+89_1155+97del (n.1155+89_1155+97del) c.1467+89_1467+97del (n.1467+89_1467+97del) | gnomAD v3 gnomAD v4 |
5 | g.69433183A>G | CA1077201959 | MARVELD2 | c.1503+90A>G (n.1503+90A>G) c.1155+90A>G (n.1155+90A>G) c.1467+90A>G (n.1467+90A>G) | gnomAD v3 gnomAD v4 |
5 | g.69433183A>T | CA560299449 | MARVELD2 | c.1503+90A>T (n.1503+90A>T) c.1155+90A>T (n.1155+90A>T) c.1467+90A>T (n.1467+90A>T) | gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433184G>T | CA1077201964 | MARVELD2 | c.1503+91G>T (n.1503+91G>T) c.1155+91G>T (n.1155+91G>T) c.1467+91G>T (n.1467+91G>T) | gnomAD v3 gnomAD v4 |
5 | g.69433184_69433186delinsGAC | CA1553927651 | MARVELD2 | c.1503+91_1503+93delinsGAC (n.1503+91_1503+93delinsGAC) c.1155+91_1155+93delinsGAC (n.1155+91_1155+93delinsGAC) c.1467+91_1467+93delinsGAC (n.1467+91_1467+93delinsGAC) | |
5 | g.69433185A>T | CA1077201970 | MARVELD2 | c.1503+92A>T (n.1503+92A>T) c.1155+92A>T (n.1155+92A>T) c.1467+92A>T (n.1467+92A>T) | gnomAD v3 gnomAD v4 |
5 | g.69433186_69433187del | CA813512859 | MARVELD2 | c.1503+93_1503+94del (n.1503+93_1503+94del) c.1155+93_1155+94del (n.1155+93_1155+94del) c.1467+93_1467+94del (n.1467+93_1467+94del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433186C>A | CA1077201974 | MARVELD2 | c.1503+93C>A (n.1503+93C>A) c.1155+93C>A (n.1155+93C>A) c.1467+93C>A (n.1467+93C>A) | gnomAD v3 gnomAD v4 |
5 | g.69433186C>T | CA2674131493 | MARVELD2 | c.1503+93C>T (n.1503+93C>T) c.1155+93C>T (n.1155+93C>T) c.1467+93C>T (n.1467+93C>T) | gnomAD v4 |
5 | g.69433186_69433188delinsCAG | CA1553927653 | MARVELD2 | c.1503+93_1503+95delinsCAG (n.1503+93_1503+95delinsCAG) c.1155+93_1155+95delinsCAG (n.1155+93_1155+95delinsCAG) c.1467+93_1467+95delinsCAG (n.1467+93_1467+95delinsCAG) | |
5 | g.69433187A>G | CA2674131496 | MARVELD2 | c.1503+94A>G (n.1503+94A>G) c.1155+94A>G (n.1155+94A>G) c.1467+94A>G (n.1467+94A>G) | gnomAD v4 |
5 | g.69433187A>T | CA2674131498 | MARVELD2 | c.1503+94A>T (n.1503+94A>T) c.1155+94A>T (n.1155+94A>T) c.1467+94A>T (n.1467+94A>T) | gnomAD v4 |
5 | g.69433189_69433190del | CA120002773 | MARVELD2 | c.1503+96_1503+97del (n.1503+96_1503+97del) c.1155+96_1155+97del (n.1155+96_1155+97del) c.1467+96_1467+97del (n.1467+96_1467+97del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433188G>T | CA2674131501 | MARVELD2 | c.1503+95G>T (n.1503+95G>T) c.1155+95G>T (n.1155+95G>T) c.1467+95G>T (n.1467+95G>T) | gnomAD v4 |
5 | g.69433189A>G | CA1077201978 | MARVELD2 | c.1503+96A>G (n.1503+96A>G) c.1155+96A>G (n.1155+96A>G) c.1467+96A>G (n.1467+96A>G) | gnomAD v3 gnomAD v4 |
5 | g.69433189A>T | CA2674131503 | MARVELD2 | c.1503+96A>T (n.1503+96A>T) c.1155+96A>T (n.1155+96A>T) c.1467+96A>T (n.1467+96A>T) | gnomAD v4 |
5 | g.69433190G>T | CA2674131504 | MARVELD2 | c.1503+97G>T (n.1503+97G>T) c.1155+97G>T (n.1155+97G>T) c.1467+97G>T (n.1467+97G>T) | gnomAD v4 |
5 | g.69433190_69433192delinsGTC | CA1553927656 | MARVELD2 | c.1503+97_1503+99delinsGTC (n.1503+97_1503+99delinsGTC) c.1155+97_1155+99delinsGTC (n.1155+97_1155+99delinsGTC) c.1467+97_1467+99delinsGTC (n.1467+97_1467+99delinsGTC) | |
5 | g.69433191T>A | CA2674131506 | MARVELD2 | c.1503+98T>A (n.1503+98T>A) c.1155+98T>A (n.1155+98T>A) c.1467+98T>A (n.1467+98T>A) | gnomAD v4 |
5 | g.69433192_69433193del | CA1553927657 | MARVELD2 | c.1503+99_1503+100del (n.1503+99_1503+100del) c.1155+99_1155+100del (n.1155+99_1155+100del) c.1467+99_1467+100del (n.1467+99_1467+100del) | dbSNP |
5 | g.69433192C>A | CA2578329463 | MARVELD2 | c.1503+99C>A (n.1503+99C>A) c.1155+99C>A (n.1155+99C>A) c.1467+99C>A (n.1467+99C>A) | gnomAD v4 |
5 | g.69433192C>G | CA2766863542 | MARVELD2 | c.1503+99C>G (n.1503+99C>G) c.1155+99C>G (n.1155+99C>G) c.1467+99C>G (n.1467+99C>G) | |
5 | g.69433192C>T | CA1077201979 | MARVELD2 | c.1503+99C>T (n.1503+99C>T) c.1155+99C>T (n.1155+99C>T) c.1467+99C>T (n.1467+99C>T) | gnomAD v3 gnomAD v4 |
5 | g.69433193T>A | CA2674131508 | MARVELD2 | c.1503+100T>A (n.1503+100T>A) c.1155+100T>A (n.1155+100T>A) c.1467+100T>A (n.1467+100T>A) | gnomAD v4 |
5 | g.69433193T>C | CA2674131510 | MARVELD2 | c.1503+100T>C (n.1503+100T>C) c.1155+100T>C (n.1155+100T>C) c.1467+100T>C (n.1467+100T>C) | gnomAD v4 |
5 | g.69433193T>G | CA1077201986 | MARVELD2 | c.1503+100T>G (n.1503+100T>G) c.1155+100T>G (n.1155+100T>G) c.1467+100T>G (n.1467+100T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433193T= | CA1553927659 | MARVELD2 | c.1503+100T= (n.1503+100T=) c.1155+100T= (n.1155+100T=) c.1467+100T= (n.1467+100T=) | |
5 | g.69433195G>T | CA1077201991 | MARVELD2 | c.1503+102G>T (n.1503+102G>T) c.1155+102G>T (n.1155+102G>T) c.1467+102G>T (n.1467+102G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433196T>A | CA2674131512 | MARVELD2 | c.1503+103T>A (n.1503+103T>A) c.1155+103T>A (n.1155+103T>A) c.1467+103T>A (n.1467+103T>A) | gnomAD v4 |
5 | g.69433196T>C | CA2674131513 | MARVELD2 | c.1503+103T>C (n.1503+103T>C) c.1155+103T>C (n.1155+103T>C) c.1467+103T>C (n.1467+103T>C) | gnomAD v4 |
5 | g.69433198C>A | CA1077201997 | MARVELD2 | c.1503+105C>A (n.1503+105C>A) c.1155+105C>A (n.1155+105C>A) c.1467+105C>A (n.1467+105C>A) | gnomAD v3 gnomAD v4 |
5 | g.69433198C= | CA1553927662 | MARVELD2 | c.1503+105C= (n.1503+105C=) c.1155+105C= (n.1155+105C=) c.1467+105C= (n.1467+105C=) | |
5 | g.69433198C>G | CA120002778 | MARVELD2 | c.1503+105C>G (n.1503+105C>G) c.1155+105C>G (n.1155+105C>G) c.1467+105C>G (n.1467+105C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433198C>T | CA1077202000 | MARVELD2 | c.1503+105C>T (n.1503+105C>T) c.1155+105C>T (n.1155+105C>T) c.1467+105C>T (n.1467+105C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433199_69433200insTTTTTTTTTTTTT | CA2766863545 | MARVELD2 | c.1503+106_1503+107insTTTTTTTTTTTTT (n.1503+106_1503+107insTTTTTTTTTTTTT) c.1155+106_1155+107insTTTTTTTTTTTTT (n.1155+106_1155+107insTTTTTTTTTTTTT) c.1467+106_1467+107insTTTTTTTTTTTTT (n.1467+106_1467+107insTTTTTTTTTTTTT) | |
5 | g.69433200G>A | CA120002779 | MARVELD2 | c.1503+107G>A (n.1503+107G>A) c.1155+107G>A (n.1155+107G>A) c.1467+107G>A (n.1467+107G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433200G>C | CA1553927666 | MARVELD2 | c.1503+107G>C (n.1503+107G>C) c.1155+107G>C (n.1155+107G>C) c.1467+107G>C (n.1467+107G>C) | dbSNP |
5 | g.69433200G= | CA1553927665 | MARVELD2 | c.1503+107G= (n.1503+107G=) c.1155+107G= (n.1155+107G=) c.1467+107G= (n.1467+107G=) | |
5 | g.69433200G>T | CA1077202003 | MARVELD2 | c.1503+107G>T (n.1503+107G>T) c.1155+107G>T (n.1155+107G>T) c.1467+107G>T (n.1467+107G>T) | gnomAD v3 gnomAD v4 |
5 | g.69433201T>G | CA2674131522 | MARVELD2 | c.1503+108T>G (n.1503+108T>G) c.1155+108T>G (n.1155+108T>G) c.1467+108T>G (n.1467+108T>G) | gnomAD v4 |
5 | g.69433203G>A | CA2674131527 | MARVELD2 | c.1503+110G>A (n.1503+110G>A) c.1155+110G>A (n.1155+110G>A) c.1467+110G>A (n.1467+110G>A) | gnomAD v4 |
5 | g.69433203G>T | CA2674131525 | MARVELD2 | c.1503+110G>T (n.1503+110G>T) c.1155+110G>T (n.1155+110G>T) c.1467+110G>T (n.1467+110G>T) | gnomAD v4 |
5 | g.69433204C>A | CA2674131531 | MARVELD2 | c.1503+111C>A (n.1503+111C>A) c.1155+111C>A (n.1155+111C>A) c.1467+111C>A (n.1467+111C>A) | gnomAD v4 |
5 | g.69433204C>T | CA2674131532 | MARVELD2 | c.1503+111C>T (n.1503+111C>T) c.1155+111C>T (n.1155+111C>T) c.1467+111C>T (n.1467+111C>T) | gnomAD v4 |
5 | g.69433205del | CA2674131530 | MARVELD2 | c.1503+112del (n.1503+112del) c.1155+112del (n.1155+112del) c.1467+112del (n.1467+112del) | gnomAD v4 |
5 | g.69433205C>T | CA2674131534 | MARVELD2 | c.1503+112C>T (n.1503+112C>T) c.1155+112C>T (n.1155+112C>T) c.1467+112C>T (n.1467+112C>T) | gnomAD v4 |
5 | g.69433206A= | CA1553927668 | MARVELD2 | c.1503+113A= (n.1503+113A=) c.1155+113A= (n.1155+113A=) c.1467+113A= (n.1467+113A=) | |
5 | g.69433206A>G | CA813512860 | MARVELD2 | c.1503+113A>G (n.1503+113A>G) c.1155+113A>G (n.1155+113A>G) c.1467+113A>G (n.1467+113A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433206A>T | CA2674131536 | MARVELD2 | c.1503+113A>T (n.1503+113A>T) c.1155+113A>T (n.1155+113A>T) c.1467+113A>T (n.1467+113A>T) | gnomAD v4 |
5 | g.69433207G>A | CA2674131542 | MARVELD2 | c.1503+114G>A (n.1503+114G>A) c.1155+114G>A (n.1155+114G>A) c.1467+114G>A (n.1467+114G>A) | gnomAD v4 |
5 | g.69433208G>C | CA2674131544 | MARVELD2 | c.1503+115G>C (n.1503+115G>C) c.1155+115G>C (n.1155+115G>C) c.1467+115G>C (n.1467+115G>C) | gnomAD v4 |
5 | g.69433208G= | CA1553927669 | MARVELD2 | c.1503+115G= (n.1503+115G=) c.1155+115G= (n.1155+115G=) c.1467+115G= (n.1467+115G=) | |
5 | g.69433208G>T | CA2674131546 | MARVELD2 | c.1503+115G>T (n.1503+115G>T) c.1155+115G>T (n.1155+115G>T) c.1467+115G>T (n.1467+115G>T) | gnomAD v4 |
5 | g.69433209C>A | CA2674131548 | MARVELD2 | c.1503+116C>A (n.1503+116C>A) c.1155+116C>A (n.1155+116C>A) c.1467+116C>A (n.1467+116C>A) | gnomAD v4 |
5 | g.69433209C>T | CA2674131550 | MARVELD2 | c.1503+116C>T (n.1503+116C>T) c.1155+116C>T (n.1155+116C>T) c.1467+116C>T (n.1467+116C>T) | gnomAD v4 |
5 | g.69433209dup | CA813512861 | MARVELD2 | c.1503+116dup (n.1503+116dup) c.1155+116dup (n.1155+116dup) c.1467+116dup (n.1467+116dup) | dbSNP |
5 | g.69433210T>C | CA2674131552 | MARVELD2 | c.1503+117T>C (n.1503+117T>C) c.1155+117T>C (n.1155+117T>C) c.1467+117T>C (n.1467+117T>C) | gnomAD v4 |
5 | g.69433210T>G | CA2674131553 | MARVELD2 | c.1503+117T>G (n.1503+117T>G) c.1155+117T>G (n.1155+117T>G) c.1467+117T>G (n.1467+117T>G) | gnomAD v4 |
5 | g.69433211G>A | CA2674131554 | MARVELD2 | c.1503+118G>A (n.1503+118G>A) c.1155+118G>A (n.1155+118G>A) c.1467+118G>A (n.1467+118G>A) | gnomAD v4 |
5 | g.69433211G>T | CA2674131555 | MARVELD2 | c.1503+118G>T (n.1503+118G>T) c.1155+118G>T (n.1155+118G>T) c.1467+118G>T (n.1467+118G>T) | gnomAD v4 |
5 | g.69433212G>C | CA2674131556 | MARVELD2 | c.1503+119G>C (n.1503+119G>C) c.1155+119G>C (n.1155+119G>C) c.1467+119G>C (n.1467+119G>C) | gnomAD v4 |
5 | g.69433212G>T | CA2674131557 | MARVELD2 | c.1503+119G>T (n.1503+119G>T) c.1155+119G>T (n.1155+119G>T) c.1467+119G>T (n.1467+119G>T) | gnomAD v4 |
5 | g.69433213A>G | CA2674131559 | MARVELD2 | c.1503+120A>G (n.1503+120A>G) c.1155+120A>G (n.1155+120A>G) c.1467+120A>G (n.1467+120A>G) | gnomAD v4 |
5 | g.69433213A>T | CA2674131560 | MARVELD2 | c.1503+120A>T (n.1503+120A>T) c.1155+120A>T (n.1155+120A>T) c.1467+120A>T (n.1467+120A>T) | gnomAD v4 |
5 | g.69433214G>A | CA120002784 | MARVELD2 | c.1503+121G>A (n.1503+121G>A) c.1155+121G>A (n.1155+121G>A) c.1467+121G>A (n.1467+121G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433214G>C | CA2674131563 | MARVELD2 | c.1503+121G>C (n.1503+121G>C) c.1155+121G>C (n.1155+121G>C) c.1467+121G>C (n.1467+121G>C) | gnomAD v4 |
5 | g.69433214G= | CA1553927671 | MARVELD2 | c.1503+121G= (n.1503+121G=) c.1155+121G= (n.1155+121G=) c.1467+121G= (n.1467+121G=) | |
5 | g.69433214G>T | CA2766863549 | MARVELD2 | c.1503+121G>T (n.1503+121G>T) c.1155+121G>T (n.1155+121G>T) c.1467+121G>T (n.1467+121G>T) | |
5 | g.69433215T>A | CA813512862 | MARVELD2 | c.1503+122T>A (n.1503+122T>A) c.1155+122T>A (n.1155+122T>A) c.1467+122T>A (n.1467+122T>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433215T= | CA1553927673 | MARVELD2 | c.1503+122T= (n.1503+122T=) c.1155+122T= (n.1155+122T=) c.1467+122T= (n.1467+122T=) | |
5 | g.69433216G>A | CA2674131564 | MARVELD2 | c.1503+123G>A (n.1503+123G>A) c.1155+123G>A (n.1155+123G>A) c.1467+123G>A (n.1467+123G>A) | gnomAD v4 |
5 | g.69433216G>T | CA2674131565 | MARVELD2 | c.1503+123G>T (n.1503+123G>T) c.1155+123G>T (n.1155+123G>T) c.1467+123G>T (n.1467+123G>T) | gnomAD v4 |
5 | g.69433217C>T | CA2674131567 | MARVELD2 | c.1503+124C>T (n.1503+124C>T) c.1155+124C>T (n.1155+124C>T) c.1467+124C>T (n.1467+124C>T) | gnomAD v4 |
5 | g.69433218A>G | CA2674131569 | MARVELD2 | c.1503+125A>G (n.1503+125A>G) c.1155+125A>G (n.1155+125A>G) c.1467+125A>G (n.1467+125A>G) | gnomAD v4 |
5 | g.69433218A>T | CA2674131570 | MARVELD2 | c.1503+125A>T (n.1503+125A>T) c.1155+125A>T (n.1155+125A>T) c.1467+125A>T (n.1467+125A>T) | gnomAD v4 |
5 | g.69433219G>A | CA2674131571 | MARVELD2 | c.1503+126G>A (n.1503+126G>A) c.1155+126G>A (n.1155+126G>A) c.1467+126G>A (n.1467+126G>A) | gnomAD v4 |
5 | g.69433220T>A | CA2674131573 | MARVELD2 | c.1503+127T>A (n.1503+127T>A) c.1155+127T>A (n.1155+127T>A) c.1467+127T>A (n.1467+127T>A) | gnomAD v4 |
5 | g.69433220T>C | CA2674131577 | MARVELD2 | c.1503+127T>C (n.1503+127T>C) c.1155+127T>C (n.1155+127T>C) c.1467+127T>C (n.1467+127T>C) | gnomAD v4 |
5 | g.69433221G>A | CA2674131579 | MARVELD2 | c.1503+128G>A (n.1503+128G>A) c.1155+128G>A (n.1155+128G>A) c.1467+128G>A (n.1467+128G>A) | gnomAD v4 |
5 | g.69433221G>T | CA2674131581 | MARVELD2 | c.1503+128G>T (n.1503+128G>T) c.1155+128G>T (n.1155+128G>T) c.1467+128G>T (n.1467+128G>T) | gnomAD v4 |
5 | g.69433222G>A | CA1553927675 | MARVELD2 | c.1503+129G>A (n.1503+129G>A) c.1155+129G>A (n.1155+129G>A) c.1467+129G>A (n.1467+129G>A) | dbSNP gnomAD v4 |
5 | g.69433222G= | CA1553927674 | MARVELD2 | c.1503+129G= (n.1503+129G=) c.1155+129G= (n.1155+129G=) c.1467+129G= (n.1467+129G=) | |
5 | g.69433223C>A | CA2674131586 | MARVELD2 | c.1503+130C>A (n.1503+130C>A) c.1155+130C>A (n.1155+130C>A) c.1467+130C>A (n.1467+130C>A) | gnomAD v4 |
5 | g.69433223C>T | CA2674131587 | MARVELD2 | c.1503+130C>T (n.1503+130C>T) c.1155+130C>T (n.1155+130C>T) c.1467+130C>T (n.1467+130C>T) | gnomAD v4 |
5 | g.69433224A>G | CA1077202008 | MARVELD2 | c.1503+131A>G (n.1503+131A>G) c.1155+131A>G (n.1155+131A>G) c.1467+131A>G (n.1467+131A>G) | gnomAD v3 gnomAD v4 |
5 | g.69433225C>A | CA2674131590 | MARVELD2 | c.1503+132C>A (n.1503+132C>A) c.1155+132C>A (n.1155+132C>A) c.1467+132C>A (n.1467+132C>A) | gnomAD v4 |
5 | g.69433225C>T | CA1077202010 | MARVELD2 | c.1503+132C>T (n.1503+132C>T) c.1155+132C>T (n.1155+132C>T) c.1467+132C>T (n.1467+132C>T) | gnomAD v3 gnomAD v4 |
5 | g.69433226A>G | CA1077202014 | MARVELD2 | c.1503+133A>G (n.1503+133A>G) c.1155+133A>G (n.1155+133A>G) c.1467+133A>G (n.1467+133A>G) | gnomAD v3 gnomAD v4 |
5 | g.69433226A>T | CA2674131597 | MARVELD2 | c.1503+133A>T (n.1503+133A>T) c.1155+133A>T (n.1155+133A>T) c.1467+133A>T (n.1467+133A>T) | gnomAD v4 |
5 | g.69433227A>G | CA2674131599 | MARVELD2 | c.1503+134A>G (n.1503+134A>G) c.1155+134A>G (n.1155+134A>G) c.1467+134A>G (n.1467+134A>G) | gnomAD v4 |
5 | g.69433227A>T | CA2674131600 | MARVELD2 | c.1503+134A>T (n.1503+134A>T) c.1155+134A>T (n.1155+134A>T) c.1467+134A>T (n.1467+134A>T) | gnomAD v4 |
5 | g.69433228T>C | CA2674131601 | MARVELD2 | c.1503+135T>C (n.1503+135T>C) c.1155+135T>C (n.1155+135T>C) c.1467+135T>C (n.1467+135T>C) | gnomAD v4 |
5 | g.69433229C>A | CA2674131604 | MARVELD2 | c.1503+136C>A (n.1503+136C>A) c.1155+136C>A (n.1155+136C>A) c.1467+136C>A (n.1467+136C>A) | gnomAD v4 |
5 | g.69433229C>T | CA2674131605 | MARVELD2 | c.1503+136C>T (n.1503+136C>T) c.1155+136C>T (n.1155+136C>T) c.1467+136C>T (n.1467+136C>T) | gnomAD v4 |
5 | g.69433230T>C | CA120002791 | MARVELD2 | c.1503+137T>C (n.1503+137T>C) c.1155+137T>C (n.1155+137T>C) c.1467+137T>C (n.1467+137T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433230T= | CA1553927677 | MARVELD2 | c.1503+137T= (n.1503+137T=) c.1155+137T= (n.1155+137T=) c.1467+137T= (n.1467+137T=) | |
5 | g.69433232G>A | CA2766863552 | MARVELD2 | c.1503+139G>A (n.1503+139G>A) c.1155+139G>A (n.1155+139G>A) c.1467+139G>A (n.1467+139G>A) | |
5 | g.69433232G>T | CA2674131607 | MARVELD2 | c.1503+139G>T (n.1503+139G>T) c.1155+139G>T (n.1155+139G>T) c.1467+139G>T (n.1467+139G>T) | gnomAD v4 |
5 | g.69433233G>A | CA2674131608 | MARVELD2 | c.1503+140G>A (n.1503+140G>A) c.1155+140G>A (n.1155+140G>A) c.1467+140G>A (n.1467+140G>A) | gnomAD v4 |
5 | g.69433234C>T | CA2674131609 | MARVELD2 | c.1503+141C>T (n.1503+141C>T) c.1155+141C>T (n.1155+141C>T) c.1467+141C>T (n.1467+141C>T) | gnomAD v4 |
5 | g.69433235T>A | CA2674131611 | MARVELD2 | c.1503+142T>A (n.1503+142T>A) c.1155+142T>A (n.1155+142T>A) c.1467+142T>A (n.1467+142T>A) | gnomAD v4 |
5 | g.69433235T>C | CA1553927679 | MARVELD2 | c.1503+142T>C (n.1503+142T>C) c.1155+142T>C (n.1155+142T>C) c.1467+142T>C (n.1467+142T>C) | dbSNP |
5 | g.69433235T>G | CA2674131613 | MARVELD2 | c.1503+142T>G (n.1503+142T>G) c.1155+142T>G (n.1155+142T>G) c.1467+142T>G (n.1467+142T>G) | gnomAD v4 |
5 | g.69433235T= | CA1553927678 | MARVELD2 | c.1503+142T= (n.1503+142T=) c.1155+142T= (n.1155+142T=) c.1467+142T= (n.1467+142T=) | |
5 | g.69433237G>T | CA2674131615 | MARVELD2 | c.1503+144G>T (n.1503+144G>T) c.1155+144G>T (n.1155+144G>T) c.1467+144G>T (n.1467+144G>T) | gnomAD v4 |
5 | g.69433238C>A | CA2674131618 | MARVELD2 | c.1503+145C>A (n.1503+145C>A) c.1155+145C>A (n.1155+145C>A) c.1467+145C>A (n.1467+145C>A) | gnomAD v4 |
5 | g.69433238C= | CA1553927682 | MARVELD2 | c.1503+145C= (n.1503+145C=) c.1155+145C= (n.1155+145C=) c.1467+145C= (n.1467+145C=) | |
5 | g.69433238C>T | CA120002801 | MARVELD2 | c.1503+145C>T (n.1503+145C>T) c.1155+145C>T (n.1155+145C>T) c.1467+145C>T (n.1467+145C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433239T>C | CA2674131625 | MARVELD2 | c.1503+146T>C (n.1503+146T>C) c.1155+146T>C (n.1155+146T>C) c.1467+146T>C (n.1467+146T>C) | gnomAD v4 |
5 | g.69433239_69433240insTTTTTTT | CA2766863558 | MARVELD2 | c.1503+146_1503+147insTTTTTTT (n.1503+146_1503+147insTTTTTTT) c.1155+146_1155+147insTTTTTTT (n.1155+146_1155+147insTTTTTTT) c.1467+146_1467+147insTTTTTTT (n.1467+146_1467+147insTTTTTTT) | |
5 | g.69433240G>A | CA813512863 | MARVELD2 | c.1503+147G>A (n.1503+147G>A) c.1155+147G>A (n.1155+147G>A) c.1467+147G>A (n.1467+147G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433240G= | CA1553927684 | MARVELD2 | c.1503+147G= (n.1503+147G=) c.1155+147G= (n.1155+147G=) c.1467+147G= (n.1467+147G=) | |
5 | g.69433240G>T | CA2674131631 | MARVELD2 | c.1503+147G>T (n.1503+147G>T) c.1155+147G>T (n.1155+147G>T) c.1467+147G>T (n.1467+147G>T) | gnomAD v4 |
5 | g.69433241C>A | CA2674131635 | MARVELD2 | c.1503+148C>A (n.1503+148C>A) c.1155+148C>A (n.1155+148C>A) c.1467+148C>A (n.1467+148C>A) | gnomAD v4 |
5 | g.69433241C= | CA1553927687 | MARVELD2 | c.1503+148C= (n.1503+148C=) c.1155+148C= (n.1155+148C=) c.1467+148C= (n.1467+148C=) | |
5 | g.69433241C>T | CA2674131637 | MARVELD2 | c.1503+148C>T (n.1503+148C>T) c.1155+148C>T (n.1155+148C>T) c.1467+148C>T (n.1467+148C>T) | gnomAD v4 |
5 | g.69433242A= | CA1553927688 | MARVELD2 | c.1503+149A= (n.1503+149A=) c.1155+149A= (n.1155+149A=) c.1467+149A= (n.1467+149A=) | |
5 | g.69433242A>G | CA1553927690 | MARVELD2 | c.1503+149A>G (n.1503+149A>G) c.1155+149A>G (n.1155+149A>G) c.1467+149A>G (n.1467+149A>G) | dbSNP gnomAD v4 |
5 | g.69433243dup | CA1077202021 | MARVELD2 | c.1503+150dup (n.1503+150dup) c.1155+150dup (n.1155+150dup) c.1467+150dup (n.1467+150dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433243A>G | CA2674131639 | MARVELD2 | c.1503+150A>G (n.1503+150A>G) c.1155+150A>G (n.1155+150A>G) c.1467+150A>G (n.1467+150A>G) | gnomAD v4 |
5 | g.69433243A>T | CA2674131638 | MARVELD2 | c.1503+150A>T (n.1503+150A>T) c.1155+150A>T (n.1155+150A>T) c.1467+150A>T (n.1467+150A>T) | gnomAD v4 |
5 | g.69433244C>A | CA2674131640 | MARVELD2 | c.1503+151C>A (n.1503+151C>A) c.1155+151C>A (n.1155+151C>A) c.1467+151C>A (n.1467+151C>A) | gnomAD v4 |
5 | g.69433244C>G | CA2674131643 | MARVELD2 | c.1503+151C>G (n.1503+151C>G) c.1155+151C>G (n.1155+151C>G) c.1467+151C>G (n.1467+151C>G) | gnomAD v4 |
5 | g.69433245C= | CA1553927692 | MARVELD2 | c.1503+152C= (n.1503+152C=) c.1155+152C= (n.1155+152C=) c.1467+152C= (n.1467+152C=) | |
5 | g.69433245C>T | CA120002807 | MARVELD2 | c.1503+152C>T (n.1503+152C>T) c.1155+152C>T (n.1155+152C>T) c.1467+152C>T (n.1467+152C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433246T>C | CA1553927695 | MARVELD2 | c.1503+153T>C (n.1503+153T>C) c.1155+153T>C (n.1155+153T>C) c.1467+153T>C (n.1467+153T>C) | dbSNP |
5 | g.69433246T= | CA1553927694 | MARVELD2 | c.1503+153T= (n.1503+153T=) c.1155+153T= (n.1155+153T=) c.1467+153T= (n.1467+153T=) | |
5 | g.69433247C>A | CA1553927698 | MARVELD2 | c.1503+154C>A (n.1503+154C>A) c.1155+154C>A (n.1155+154C>A) c.1467+154C>A (n.1467+154C>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433247C= | CA1553927696 | MARVELD2 | c.1503+154C= (n.1503+154C=) c.1155+154C= (n.1155+154C=) c.1467+154C= (n.1467+154C=) | |
5 | g.69433248C= | CA1553927700 | MARVELD2 | c.1503+155C= (n.1503+155C=) c.1155+155C= (n.1155+155C=) c.1467+155C= (n.1467+155C=) | |
5 | g.69433248C>T | CA1553927701 | MARVELD2 | c.1503+155C>T (n.1503+155C>T) c.1155+155C>T (n.1155+155C>T) c.1467+155C>T (n.1467+155C>T) | dbSNP |
5 | g.69433250C>T | CA2766863560 | MARVELD2 | c.1503+157C>T (n.1503+157C>T) c.1155+157C>T (n.1155+157C>T) c.1467+157C>T (n.1467+157C>T) | |
5 | g.69433253C= | CA1553927703 | MARVELD2 | c.1503+160C= (n.1503+160C=) c.1155+160C= (n.1155+160C=) c.1467+160C= (n.1467+160C=) | |
5 | g.69433253C>T | CA813512864 | MARVELD2 | c.1503+160C>T (n.1503+160C>T) c.1155+160C>T (n.1155+160C>T) c.1467+160C>T (n.1467+160C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433255T>C | CA1077202026 | MARVELD2 | c.1503+162T>C (n.1503+162T>C) c.1155+162T>C (n.1155+162T>C) c.1467+162T>C (n.1467+162T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433255T= | CA1553927705 | MARVELD2 | c.1503+162T= (n.1503+162T=) c.1155+162T= (n.1155+162T=) c.1467+162T= (n.1467+162T=) | |
5 | g.69433256G>C | CA120002817 | MARVELD2 | c.1503+163G>C (n.1503+163G>C) c.1155+163G>C (n.1155+163G>C) c.1467+163G>C (n.1467+163G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433256G= | CA1553927706 | MARVELD2 | c.1503+163G= (n.1503+163G=) c.1155+163G= (n.1155+163G=) c.1467+163G= (n.1467+163G=) | |
5 | g.69433257G>A | CA1077202042 | MARVELD2 | c.1503+164G>A (n.1503+164G>A) c.1155+164G>A (n.1155+164G>A) c.1467+164G>A (n.1467+164G>A) | gnomAD v3 gnomAD v4 |
5 | g.69433257G= | CA1553927709 | MARVELD2 | c.1503+164G= (n.1503+164G=) c.1155+164G= (n.1155+164G=) c.1467+164G= (n.1467+164G=) | |
5 | g.69433257G>T | CA560299450 | MARVELD2 | c.1503+164G>T (n.1503+164G>T) c.1155+164G>T (n.1155+164G>T) c.1467+164G>T (n.1467+164G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433259T>G | CA1553927713 | MARVELD2 | c.1503+166T>G (n.1503+166T>G) c.1155+166T>G (n.1155+166T>G) c.1467+166T>G (n.1467+166T>G) | dbSNP |
5 | g.69433259T= | CA1553927712 | MARVELD2 | c.1503+166T= (n.1503+166T=) c.1155+166T= (n.1155+166T=) c.1467+166T= (n.1467+166T=) | |
5 | g.69433260T>A | CA560299451 | MARVELD2 | c.1503+167T>A (n.1503+167T>A) c.1155+167T>A (n.1155+167T>A) c.1467+167T>A (n.1467+167T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433260T= | CA1553927714 | MARVELD2 | c.1503+167T= (n.1503+167T=) c.1155+167T= (n.1155+167T=) c.1467+167T= (n.1467+167T=) | |
5 | g.69433262A= | CA1553927716 | MARVELD2 | c.1503+169A= (n.1503+169A=) c.1155+169A= (n.1155+169A=) c.1467+169A= (n.1467+169A=) | |
5 | g.69433262A>C | CA1553927717 | MARVELD2 | c.1503+169A>C (n.1503+169A>C) c.1155+169A>C (n.1155+169A>C) c.1467+169A>C (n.1467+169A>C) | dbSNP |
5 | g.69433262A>G | CA813512865 | MARVELD2 | c.1503+169A>G (n.1503+169A>G) c.1155+169A>G (n.1155+169A>G) c.1467+169A>G (n.1467+169A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433263A= | CA1553927719 | MARVELD2 | c.1503+170A= (n.1503+170A=) c.1155+170A= (n.1155+170A=) c.1467+170A= (n.1467+170A=) | |
5 | g.69433263A>G | CA1553927720 | MARVELD2 | c.1503+170A>G (n.1503+170A>G) c.1155+170A>G (n.1155+170A>G) c.1467+170A>G (n.1467+170A>G) | dbSNP |
5 | g.69433263A>T | CA560299452 | MARVELD2 | c.1503+170A>T (n.1503+170A>T) c.1155+170A>T (n.1155+170A>T) c.1467+170A>T (n.1467+170A>T) | gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433266A= | CA1553927722 | MARVELD2 | c.1503+173A= (n.1503+173A=) c.1155+173A= (n.1155+173A=) c.1467+173A= (n.1467+173A=) | |
5 | g.69433266A>C | CA559887179 | MARVELD2 | c.1503+173A>C (n.1503+173A>C) c.1155+173A>C (n.1155+173A>C) c.1467+173A>C (n.1467+173A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433266A>G | CA2599056864 | MARVELD2 | c.1503+173A>G (n.1503+173A>G) c.1155+173A>G (n.1155+173A>G) c.1467+173A>G (n.1467+173A>G) | gnomAD v3 gnomAD v4 |
5 | g.69433267A= | CA1553927723 | MARVELD2 | c.1503+174A= (n.1503+174A=) c.1155+174A= (n.1155+174A=) c.1467+174A= (n.1467+174A=) | |
5 | g.69433267A>G | CA1553927724 | MARVELD2 | c.1503+174A>G (n.1503+174A>G) c.1155+174A>G (n.1155+174A>G) c.1467+174A>G (n.1467+174A>G) | dbSNP |