Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.18675585C>A | CA2766250615 | OFD1P6Y | n.314+13C>A | |
Y | g.18675589T>C | CA1139467427 | OFD1P6Y | n.314+17T>C | gnomAD v3 gnomAD v4 |
Y | g.18675590C= | CA2470860683 | OFD1P6Y | n.314+18C= | |
Y | g.18675590C>T | CA1139467429 | OFD1P6Y | n.314+18C>T | dbSNP gnomAD v3 gnomAD v4 |
Y | g.18675590_18675591delinsCT | CA2470860684 | OFD1P6Y | n.314+18_314+19delinsCT | |
Y | g.18675597dup | CA2766250616 | OFD1P6Y | n.314+25dup | |
Y | g.18675597del | CA1139467434 | OFD1P6Y | n.314+25del | dbSNP gnomAD v3 gnomAD v4 |
Y | g.18675619T>C | CA2518353168 | OFD1P6Y | n.314+47T>C | |
Y | g.18675629G>T | CA2536764212 | OFD1P6Y | n.314+57G>T | |
Y | g.18675637A>G | CA1139467476 | OFD1P6Y | n.314+65A>G | gnomAD v3 gnomAD v4 |
Y | g.18675640G>A | CA2522931385 | OFD1P6Y | n.314+68G>A | |
Y | g.18675649T>C | CA1139467486 | OFD1P6Y | n.314+77T>C | gnomAD v3 gnomAD v4 |
Y | g.18675665G>A | CA1139467495 | OFD1P6Y | n.314+93G>A | dbSNP gnomAD v3 gnomAD v4 |
Y | g.18675667T>C | CA337330492 | OFD1P6Y | n.314+95T>C | dbSNP dbSNP dbSNP dbSNP dbSNP gnomAD v3 gnomAD v4 |
Y | g.18675667T= | CA2470860685 | OFD1P6Y | n.314+95T= | |
Y | g.18675671G= | CA2470860686 | OFD1P6Y | n.314+99G= | |
Y | g.18675671G>T | CA1139467498 | OFD1P6Y | n.314+99G>T | dbSNP gnomAD v3 gnomAD v4 |
Y | g.18675675G>T | CA2766250617 | OFD1P6Y | n.314+103G>T | |
Y | g.18675679C>A | CA2558996026 | OFD1P6Y | n.314+107C>A |