Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102893268_102899867delinsCAGGTGCC | CA229463 | PAH | c.169-4949_352+1467delinsGGCACCTG c.154-4949_337+1467delinsGGCACCTG n.91-4949_274+1467delinsGGCACCTG n.265-4949_448+1467delinsGGCACCTG c.153-4949_336+1467delinsGGCACCTG n.258-4949_441+1467delinsGGCACCTG | ClinVar |
12 | g.102893268_102899868delinsCAGGTGCC | CA916084112 | PAH | c.169-4950_352+1467delinsGGCACCTG c.154-4950_337+1467delinsGGCACCTG n.91-4950_274+1467delinsGGCACCTG n.265-4950_448+1467delinsGGCACCTG c.153-4950_336+1467delinsGGCACCTG n.258-4950_441+1467delinsGGCACCTG | |
12 | g.102893272_102899867delinsCCTG | CA229465 | PAH | c.169-4949_352+1463delinsCAGG c.154-4949_337+1463delinsCAGG n.91-4949_274+1463delinsCAGG n.265-4949_448+1463delinsCAGG c.153-4949_336+1463delinsCAGG n.258-4949_441+1463delinsCAGG | |
12 | g.102894441_102894442insAAAAAAAAAAAAAAAA | CA951244240 | PAH | c.352+305_352+306insTTTTTTTTTTTTTTTT (n.352+305_352+306insTTTTTTTTTTTTTTTT) c.337+305_337+306insTTTTTTTTTTTTTTTT (n.337+305_337+306insTTTTTTTTTTTTTTTT) n.274+305_274+306insTTTTTTTTTTTTTTTT n.448+305_448+306insTTTTTTTTTTTTTTTT c.336+305_336+306insTTTTTTTTTTTTTTTT n.441+305_441+306insTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAATAAAAACTTATAAAGTAAAAAAAAAAAAA | CA951244159 | PAH | c.352+305_352+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTACTTTATAAGTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAATTAAAAGCTTAAAAAATAAAAAAAAAAAAA | CA951244157 | PAH | c.352+305_352+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAATAAAAAATTAAAAAAGAAAAAAAAAAAAAA | CA951244162 | PAH | c.352+305_352+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTTCTTTTTTAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAGAAATTAAAAGCTTAAAAAGAAAAAAAAAAAAAA | CA2601918480 | PAH | c.352+305_352+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAA | CA951244171 | PAH | c.352+305_352+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTCCTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAAAAAAATAAAAAGCTTAAAAAGCAAAAAAAAAAAAA | CA951244232 | PAH | c.352+305_352+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTGCTTTTTAAGCTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAATAAAAAAAAATTAAAAGCTTATAAAAAAAAAAAAAAAAAA | CA951244172 | PAH | c.352+305_352+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTTTTTTATAAGCTTTTAATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAA | CA951244144 | PAH | c.352+305_352+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT (n.352+305_352+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT) c.337+305_337+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT (n.337+305_337+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT) n.274+305_274+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT n.448+305_448+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT c.336+305_336+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT n.441+305_441+306insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAAAAAAAAAAATAAAAAATAAAAAATTAAAAAAAAAAAAAAAAAAAA | CA951244235 | PAH | c.352+305_352+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTTTTTTTTAATTTTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAAAAAAAAAAAATAAAAATAAAAAGCTTAAAAAGAAAAAAAAAAAAA | CA951244244 | PAH | c.352+305_352+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTCTTTTTAAGCTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAAAAAAAAAAAAAA | CA951244164 | PAH | c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAGCTAAAAAATAAAAAAAAAAAAAA | CA951244152 | PAH | c.352+305_352+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTTATTTTTTAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAAAGAGAGAAAAATAAAAAAAAAAAAAAATTAAAAGCTTAAAAAATAAAAAAAAAAAAA | CA951244174 | PAH | c.352+305_352+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTATTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAATTAAAAGCTTAAAAAATAAAAAAAAAAAAA | CA951244183 | PAH | c.352+305_352+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTATTTTTTAAGCTTTTAATTTTTTTTTTTTTTTTTTTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAATAAAAAATAAAAGCTTATAAAGAAAAAAAAAAAAAAA | CA951244208 | PAH | c.352+305_352+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.352+305_352+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.337+305_337+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.337+305_337+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.274+305_274+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT n.448+305_448+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT c.336+305_336+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT n.441+305_441+306insTTTCTTTATAAGCTTTTATTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
12 | g.102894441dup | CA242509365 | PAH | c.352+305dup (n.352+305dup) c.337+305dup (n.337+305dup) n.274+305dup n.448+305dup c.336+305dup n.441+305dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894440_102894441dup | CA607159474 | PAH | c.352+304_352+305dup (n.352+304_352+305dup) c.337+304_337+305dup (n.337+304_337+305dup) n.274+304_274+305dup n.448+304_448+305dup c.336+304_336+305dup n.441+304_441+305dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894439_102894441dup | CA682829600 | PAH | c.352+303_352+305dup (n.352+303_352+305dup) c.337+303_337+305dup (n.337+303_337+305dup) n.274+303_274+305dup n.448+303_448+305dup c.336+303_336+305dup n.441+303_441+305dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894438_102894441dup | CA951244217 | PAH | c.352+302_352+305dup (n.352+302_352+305dup) c.337+302_337+305dup (n.337+302_337+305dup) n.274+302_274+305dup n.448+302_448+305dup c.336+302_336+305dup n.441+302_441+305dup | gnomAD v3 gnomAD v4 |
12 | g.102894437_102894441dup | CA951244220 | PAH | c.352+301_352+305dup (n.352+301_352+305dup) c.337+301_337+305dup (n.337+301_337+305dup) n.274+301_274+305dup n.448+301_448+305dup c.336+301_336+305dup n.441+301_441+305dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894436_102894441dup | CA951244226 | PAH | c.352+300_352+305dup (n.352+300_352+305dup) c.337+300_337+305dup (n.337+300_337+305dup) n.274+300_274+305dup n.448+300_448+305dup c.336+300_336+305dup n.441+300_441+305dup | gnomAD v3 gnomAD v4 |
12 | g.102894435_102894441dup | CA951244229 | PAH | c.352+299_352+305dup (n.352+299_352+305dup) c.337+299_337+305dup (n.337+299_337+305dup) n.274+299_274+305dup n.448+299_448+305dup c.336+299_336+305dup n.441+299_441+305dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894434_102894441dup | CA607159470 | PAH | c.352+298_352+305dup (n.352+298_352+305dup) c.337+298_337+305dup (n.337+298_337+305dup) n.274+298_274+305dup n.448+298_448+305dup c.336+298_336+305dup n.441+298_441+305dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894441del | CA607159468 | PAH | c.352+305del (n.352+305del) c.337+305del (n.337+305del) n.274+305del n.448+305del c.336+305del n.441+305del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894440_102894441del | CA242509385 | PAH | c.352+304_352+305del (n.352+304_352+305del) c.337+304_337+305del (n.337+304_337+305del) n.274+304_274+305del n.448+304_448+305del c.336+304_336+305del n.441+304_441+305del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894441_102894442insAAAAAAAAAAAAATAAAAAAAAATAAAAATTAAAAAAAAAAA | CA607159475 | PAH | c.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.352+304_352+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.337+304_337+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.337+304_337+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.274+304_274+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.448+304_448+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.336+304_336+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.441+304_441+305insAATTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v2 |
12 | g.102894436_102894442delinsAAAAAAG | CA2059466271 | PAH | c.352+293_352+299delinsCTTTTTT (n.352+293_352+299delinsCTTTTTT) c.337+293_337+299delinsCTTTTTT (n.337+293_337+299delinsCTTTTTT) n.274+293_274+299delinsCTTTTTT n.448+293_448+299delinsCTTTTTT c.336+293_336+299delinsCTTTTTT n.441+293_441+299delinsCTTTTTT | |
12 | g.102894442_102894447del | CA2059466273 | PAH | c.352+293_352+298del (n.352+293_352+298del) c.337+293_337+298del (n.337+293_337+298del) n.274+293_274+298del n.448+293_448+298del c.336+293_336+298del n.441+293_441+298del | dbSNP |
12 | g.102894440A= | CA2059466274 | PAH | c.352+295T= (n.352+295T=) c.337+295T= (n.337+295T=) n.274+295T= n.448+295T= c.336+295T= n.441+295T= | |
12 | g.102894440_102894441insT | CA607159477 | PAH | c.352+294_352+295insA (n.352+294_352+295insA) c.337+294_337+295insA (n.337+294_337+295insA) n.274+294_274+295insA n.448+294_448+295insA c.336+294_336+295insA n.441+294_441+295insA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894442del | CA2797242053 | PAH | c.352+293del (n.352+293del) c.337+293del (n.337+293del) n.274+293del n.448+293del c.336+293del n.441+293del | |
12 | g.102894442G>A | CA242509389 | PAH | c.352+293C>T (n.352+293C>T) c.337+293C>T (n.337+293C>T) n.274+293C>T n.448+293C>T c.336+293C>T n.441+293C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894442G= | CA2059466279 | PAH | c.352+293C= (n.352+293C=) c.337+293C= (n.337+293C=) n.274+293C= n.448+293C= c.336+293C= n.441+293C= | |
12 | g.102894443A= | CA2059466283 | PAH | c.352+292T= (n.352+292T=) c.337+292T= (n.337+292T=) n.274+292T= n.448+292T= c.336+292T= n.441+292T= | |
12 | g.102894443A>G | CA2059466284 | PAH | c.352+292T>C (n.352+292T>C) c.337+292T>C (n.337+292T>C) n.274+292T>C n.448+292T>C c.336+292T>C n.441+292T>C | dbSNP |
12 | g.102894447A= | CA2059466287 | PAH | c.352+288T= (n.352+288T=) c.337+288T= (n.337+288T=) n.274+288T= n.448+288T= c.336+288T= n.441+288T= | |
12 | g.102894449_102894458dup | CA607159479 | PAH | c.352+278_352+287dup (n.352+278_352+287dup) c.337+278_337+287dup (n.337+278_337+287dup) n.274+278_274+287dup n.448+278_448+287dup c.336+278_336+287dup n.441+278_441+287dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894449G>A | CA607159481 | PAH | c.352+286C>T (n.352+286C>T) c.337+286C>T (n.337+286C>T) n.274+286C>T n.448+286C>T c.336+286C>T n.441+286C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894449G= | CA2059466291 | PAH | c.352+286C= (n.352+286C=) c.337+286C= (n.337+286C=) n.274+286C= n.448+286C= c.336+286C= n.441+286C= | |
12 | g.102894449G>T | CA951244268 | PAH | c.352+286C>A (n.352+286C>A) c.337+286C>A (n.337+286C>A) n.274+286C>A n.448+286C>A c.336+286C>A n.441+286C>A | gnomAD v3 gnomAD v4 |
12 | g.102894450A= | CA2059466293 | PAH | c.352+285T= (n.352+285T=) c.337+285T= (n.337+285T=) n.274+285T= n.448+285T= c.336+285T= n.441+285T= | |
12 | g.102894450A>C | CA242509416 | PAH | c.352+285T>G (n.352+285T>G) c.337+285T>G (n.337+285T>G) n.274+285T>G n.448+285T>G c.336+285T>G n.441+285T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894450A>T | CA2059466294 | PAH | c.352+285T>A (n.352+285T>A) c.337+285T>A (n.337+285T>A) n.274+285T>A n.448+285T>A c.336+285T>A n.441+285T>A | dbSNP |
12 | g.102894451A= | CA2059466295 | PAH | c.352+284T= (n.352+284T=) c.337+284T= (n.337+284T=) n.274+284T= n.448+284T= c.336+284T= n.441+284T= | |
12 | g.102894451A>C | CA242509419 | PAH | c.352+284T>G (n.352+284T>G) c.337+284T>G (n.337+284T>G) n.274+284T>G n.448+284T>G c.336+284T>G n.441+284T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894453T>A | CA607159483 | PAH | c.352+282A>T (n.352+282A>T) c.337+282A>T (n.337+282A>T) n.274+282A>T n.448+282A>T c.336+282A>T n.441+282A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894453T= | CA2059466296 | PAH | c.352+282A= (n.352+282A=) c.337+282A= (n.337+282A=) n.274+282A= n.448+282A= c.336+282A= n.441+282A= | |
12 | g.102894455G>A | CA951244278 | PAH | c.352+280C>T (n.352+280C>T) c.337+280C>T (n.337+280C>T) n.274+280C>T n.448+280C>T c.336+280C>T n.441+280C>T | gnomAD v3 gnomAD v4 |
12 | g.102894456C>A | CA607159485 | PAH | c.352+279G>T (n.352+279G>T) c.337+279G>T (n.337+279G>T) n.274+279G>T n.448+279G>T c.336+279G>T n.441+279G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894456C= | CA2059466297 | PAH | c.352+279G= (n.352+279G=) c.337+279G= (n.337+279G=) n.274+279G= n.448+279G= c.336+279G= n.441+279G= | |
12 | g.102894457T>A | CA951244286 | PAH | c.352+278A>T (n.352+278A>T) c.337+278A>T (n.337+278A>T) n.274+278A>T n.448+278A>T c.336+278A>T n.441+278A>T | gnomAD v3 gnomAD v4 |
12 | g.102894457T>C | CA951244293 | PAH | c.352+278A>G (n.352+278A>G) c.337+278A>G (n.337+278A>G) n.274+278A>G n.448+278A>G c.336+278A>G n.441+278A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894457T= | CA2059466298 | PAH | c.352+278A= (n.352+278A=) c.337+278A= (n.337+278A=) n.274+278A= n.448+278A= c.336+278A= n.441+278A= | |
12 | g.102894459T>A | CA951244296 | PAH | c.352+276A>T (n.352+276A>T) c.337+276A>T (n.337+276A>T) n.274+276A>T n.448+276A>T c.336+276A>T n.441+276A>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894459T>C | CA242509426 | PAH | c.352+276A>G (n.352+276A>G) c.337+276A>G (n.337+276A>G) n.274+276A>G n.448+276A>G c.336+276A>G n.441+276A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894459T= | CA2059466301 | PAH | c.352+276A= (n.352+276A=) c.337+276A= (n.337+276A=) n.274+276A= n.448+276A= c.336+276A= n.441+276A= | |
12 | g.102894460C>T | CA2797242060 | PAH | c.352+275G>A (n.352+275G>A) c.337+275G>A (n.337+275G>A) n.274+275G>A n.448+275G>A c.336+275G>A n.441+275G>A | |
12 | g.102894463T>C | CA242509432 | PAH | c.352+272A>G (n.352+272A>G) c.337+272A>G (n.337+272A>G) n.274+272A>G n.448+272A>G c.336+272A>G n.441+272A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894463T= | CA2059466303 | PAH | c.352+272A= (n.352+272A=) c.337+272A= (n.337+272A=) n.274+272A= n.448+272A= c.336+272A= n.441+272A= | |
12 | g.102894466G>A | CA951244310 | PAH | c.352+269C>T (n.352+269C>T) c.337+269C>T (n.337+269C>T) n.274+269C>T n.448+269C>T c.336+269C>T n.441+269C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894466G= | CA2059466307 | PAH | c.352+269C= (n.352+269C=) c.337+269C= (n.337+269C=) n.274+269C= n.448+269C= c.336+269C= n.441+269C= | |
12 | g.102894467A>T | CA2726969380 | PAH | c.352+268T>A (n.352+268T>A) c.337+268T>A (n.337+268T>A) n.274+268T>A n.448+268T>A c.336+268T>A n.441+268T>A | dbSNP |
12 | g.102894469G= | CA2059466311 | PAH | c.352+266C= (n.352+266C=) c.337+266C= (n.337+266C=) n.274+266C= n.448+266C= c.336+266C= n.441+266C= | |
12 | g.102894469G>T | CA607159486 | PAH | c.352+266C>A (n.352+266C>A) c.337+266C>A (n.337+266C>A) n.274+266C>A n.448+266C>A c.336+266C>A n.441+266C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894470G>A | CA951244316 | PAH | c.352+265C>T (n.352+265C>T) c.337+265C>T (n.337+265C>T) n.274+265C>T n.448+265C>T c.336+265C>T n.441+265C>T | gnomAD v3 gnomAD v4 |
12 | g.102894471G>A | CA951244326 | PAH | c.352+264C>T (n.352+264C>T) c.337+264C>T (n.337+264C>T) n.274+264C>T n.448+264C>T c.336+264C>T n.441+264C>T | gnomAD v3 gnomAD v4 |
12 | g.102894472G>A | CA607159487 | PAH | c.352+263C>T (n.352+263C>T) c.337+263C>T (n.337+263C>T) n.274+263C>T n.448+263C>T c.336+263C>T n.441+263C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894472G= | CA2059466313 | PAH | c.352+263C= (n.352+263C=) c.337+263C= (n.337+263C=) n.274+263C= n.448+263C= c.336+263C= n.441+263C= | |
12 | g.102894478T>A | CA682829662 | PAH | c.352+257A>T (n.352+257A>T) c.337+257A>T (n.337+257A>T) n.274+257A>T n.448+257A>T c.336+257A>T n.441+257A>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894478T>C | CA242509434 | PAH | c.352+257A>G (n.352+257A>G) c.337+257A>G (n.337+257A>G) n.274+257A>G n.448+257A>G c.336+257A>G n.441+257A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894478T= | CA2059466315 | PAH | c.352+257A= (n.352+257A=) c.337+257A= (n.337+257A=) n.274+257A= n.448+257A= c.336+257A= n.441+257A= | |
12 | g.102894479A= | CA2059466318 | PAH | c.352+256T= (n.352+256T=) c.337+256T= (n.337+256T=) n.274+256T= n.448+256T= c.336+256T= n.441+256T= | |
12 | g.102894479A>C | CA242509447 | PAH | c.352+256T>G (n.352+256T>G) c.337+256T>G (n.337+256T>G) n.274+256T>G n.448+256T>G c.336+256T>G n.441+256T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894480A= | CA2059466322 | PAH | c.352+255T= (n.352+255T=) c.337+255T= (n.337+255T=) n.274+255T= n.448+255T= c.336+255T= n.441+255T= | |
12 | g.102894480A>G | CA951244343 | PAH | c.352+255T>C (n.352+255T>C) c.337+255T>C (n.337+255T>C) n.274+255T>C n.448+255T>C c.336+255T>C n.441+255T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894481C>A | CA951244351 | PAH | c.352+254G>T (n.352+254G>T) c.337+254G>T (n.337+254G>T) n.274+254G>T n.448+254G>T c.336+254G>T n.441+254G>T | gnomAD v3 gnomAD v4 |
12 | g.102894482T>A | CA951244353 | PAH | c.352+253A>T (n.352+253A>T) c.337+253A>T (n.337+253A>T) n.274+253A>T n.448+253A>T c.336+253A>T n.441+253A>T | gnomAD v3 gnomAD v4 |
12 | g.102894482T>C | CA2059466325 | PAH | c.352+253A>G (n.352+253A>G) c.337+253A>G (n.337+253A>G) n.274+253A>G n.448+253A>G c.336+253A>G n.441+253A>G | dbSNP |
12 | g.102894482T= | CA2059466324 | PAH | c.352+253A= (n.352+253A=) c.337+253A= (n.337+253A=) n.274+253A= n.448+253A= c.336+253A= n.441+253A= | |
12 | g.102894483A= | CA2059466327 | PAH | c.352+252T= (n.352+252T=) c.337+252T= (n.337+252T=) n.274+252T= n.448+252T= c.336+252T= n.441+252T= | |
12 | g.102894483A>G | CA242509450 | PAH | c.352+252T>C (n.352+252T>C) c.337+252T>C (n.337+252T>C) n.274+252T>C n.448+252T>C c.336+252T>C n.441+252T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894493A= | CA2059466330 | PAH | c.352+242T= (n.352+242T=) c.337+242T= (n.337+242T=) n.274+242T= n.448+242T= c.336+242T= n.441+242T= | |
12 | g.102894493A>C | CA2059466332 | PAH | c.352+242T>G (n.352+242T>G) c.337+242T>G (n.337+242T>G) n.274+242T>G n.448+242T>G c.336+242T>G n.441+242T>G | dbSNP |
12 | g.102894493A>G | CA2059466331 | PAH | c.352+242T>C (n.352+242T>C) c.337+242T>C (n.337+242T>C) n.274+242T>C n.448+242T>C c.336+242T>C n.441+242T>C | dbSNP |
12 | g.102894494T>C | CA2059466336 | PAH | c.352+241A>G (n.352+241A>G) c.337+241A>G (n.337+241A>G) n.274+241A>G n.448+241A>G c.336+241A>G n.441+241A>G | dbSNP |
12 | g.102894494T= | CA2059466334 | PAH | c.352+241A= (n.352+241A=) c.337+241A= (n.337+241A=) n.274+241A= n.448+241A= c.336+241A= n.441+241A= | |
12 | g.102894495A= | CA2059466338 | PAH | c.352+240T= (n.352+240T=) c.337+240T= (n.337+240T=) n.274+240T= n.448+240T= c.336+240T= n.441+240T= | |
12 | g.102894495A>G | CA242509451 | PAH | c.352+240T>C (n.352+240T>C) c.337+240T>C (n.337+240T>C) n.274+240T>C n.448+240T>C c.336+240T>C n.441+240T>C | dbSNP |
12 | g.102894498T>C | CA242509454 | PAH | c.352+237A>G (n.352+237A>G) c.337+237A>G (n.337+237A>G) n.274+237A>G n.448+237A>G c.336+237A>G n.441+237A>G | dbSNP |
12 | g.102894498T= | CA2059466341 | PAH | c.352+237A= (n.352+237A=) c.337+237A= (n.337+237A=) n.274+237A= n.448+237A= c.336+237A= n.441+237A= | |
12 | g.102894499C= | CA2059466343 | PAH | c.352+236G= (n.352+236G=) c.337+236G= (n.337+236G=) n.274+236G= n.448+236G= c.336+236G= n.441+236G= | |
12 | g.102894499C>T | CA2059466344 | PAH | c.352+236G>A (n.352+236G>A) c.337+236G>A (n.337+236G>A) n.274+236G>A n.448+236G>A c.336+236G>A n.441+236G>A | dbSNP |
12 | g.102894500T>G | CA951244367 | PAH | c.352+235A>C (n.352+235A>C) c.337+235A>C (n.337+235A>C) n.274+235A>C n.448+235A>C c.336+235A>C n.441+235A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894500T= | CA2059466346 | PAH | c.352+235A= (n.352+235A=) c.337+235A= (n.337+235A=) n.274+235A= n.448+235A= c.336+235A= n.441+235A= | |
12 | g.102894501A= | CA2059466347 | PAH | c.352+234T= (n.352+234T=) c.337+234T= (n.337+234T=) n.274+234T= n.448+234T= c.336+234T= n.441+234T= | |
12 | g.102894501A>G | CA242509461 | PAH | c.352+234T>C (n.352+234T>C) c.337+234T>C (n.337+234T>C) n.274+234T>C n.448+234T>C c.336+234T>C n.441+234T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894507T>C | CA2059466353 | PAH | c.352+228A>G (n.352+228A>G) c.337+228A>G (n.337+228A>G) n.274+228A>G n.448+228A>G c.336+228A>G n.441+228A>G | dbSNP |
12 | g.102894507T= | CA2059466351 | PAH | c.352+228A= (n.352+228A=) c.337+228A= (n.337+228A=) n.274+228A= n.448+228A= c.336+228A= n.441+228A= | |
12 | g.102894508A>C | CA2516297043 | PAH | c.352+227T>G (n.352+227T>G) c.337+227T>G (n.337+227T>G) n.274+227T>G n.448+227T>G c.336+227T>G n.441+227T>G | |
12 | g.102894509C= | CA2059466354 | PAH | c.352+226G= (n.352+226G=) c.337+226G= (n.337+226G=) n.274+226G= n.448+226G= c.336+226G= n.441+226G= | |
12 | g.102894509C>G | CA682829670 | PAH | c.352+226G>C (n.352+226G>C) c.337+226G>C (n.337+226G>C) n.274+226G>C n.448+226G>C c.336+226G>C n.441+226G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894510C= | CA2059466356 | PAH | c.352+225G= (n.352+225G=) c.337+225G= (n.337+225G=) n.274+225G= n.448+225G= c.336+225G= n.441+225G= | |
12 | g.102894510C>G | CA682829677 | PAH | c.352+225G>C (n.352+225G>C) c.337+225G>C (n.337+225G>C) n.274+225G>C n.448+225G>C c.336+225G>C n.441+225G>C | dbSNP |
12 | g.102894513G= | CA2059466358 | PAH | c.352+222C= (n.352+222C=) c.337+222C= (n.337+222C=) n.274+222C= n.448+222C= c.336+222C= n.441+222C= | |
12 | g.102894513G>T | CA2059466359 | PAH | c.352+222C>A (n.352+222C>A) c.337+222C>A (n.337+222C>A) n.274+222C>A n.448+222C>A c.336+222C>A n.441+222C>A | dbSNP |
12 | g.102894514C= | CA2059466361 | PAH | c.352+221G= (n.352+221G=) c.337+221G= (n.337+221G=) n.274+221G= n.448+221G= c.336+221G= n.441+221G= | |
12 | g.102894514C>G | CA682829684 | PAH | c.352+221G>C (n.352+221G>C) c.337+221G>C (n.337+221G>C) n.274+221G>C n.448+221G>C c.336+221G>C n.441+221G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894515A>T | CA2797242063 | PAH | c.352+220T>A (n.352+220T>A) c.337+220T>A (n.337+220T>A) n.274+220T>A n.448+220T>A c.336+220T>A n.441+220T>A | |
12 | g.102894516C= | CA2059466365 | PAH | c.352+219G= (n.352+219G=) c.337+219G= (n.337+219G=) n.274+219G= n.448+219G= c.336+219G= n.441+219G= | |
12 | g.102894516C>T | CA242509465 | PAH | c.352+219G>A (n.352+219G>A) c.337+219G>A (n.337+219G>A) n.274+219G>A n.448+219G>A c.336+219G>A n.441+219G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894518T>A | CA242509470 | PAH | c.352+217A>T (n.352+217A>T) c.337+217A>T (n.337+217A>T) n.274+217A>T n.448+217A>T c.336+217A>T n.441+217A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894518T= | CA2059466367 | PAH | c.352+217A= (n.352+217A=) c.337+217A= (n.337+217A=) n.274+217A= n.448+217A= c.336+217A= n.441+217A= | |
12 | g.102894525G>C | CA2059466371 | PAH | c.352+210C>G (n.352+210C>G) c.337+210C>G (n.337+210C>G) n.274+210C>G n.448+210C>G c.336+210C>G n.441+210C>G | dbSNP |
12 | g.102894525G= | CA2059466369 | PAH | c.352+210C= (n.352+210C=) c.337+210C= (n.337+210C=) n.274+210C= n.448+210C= c.336+210C= n.441+210C= | |
12 | g.102894527C>T | CA2797242065 | PAH | c.352+208G>A (n.352+208G>A) c.337+208G>A (n.337+208G>A) n.274+208G>A n.448+208G>A c.336+208G>A n.441+208G>A | |
12 | g.102894530C>A | CA2059466373 | PAH | c.352+205G>T (n.352+205G>T) c.337+205G>T (n.337+205G>T) n.274+205G>T n.448+205G>T c.336+205G>T n.441+205G>T | dbSNP |
12 | g.102894530C= | CA2059466372 | PAH | c.352+205G= (n.352+205G=) c.337+205G= (n.337+205G=) n.274+205G= n.448+205G= c.336+205G= n.441+205G= | |
12 | g.102894532A= | CA2059466375 | PAH | c.352+203T= (n.352+203T=) c.337+203T= (n.337+203T=) n.274+203T= n.448+203T= c.336+203T= n.441+203T= | |
12 | g.102894532A>G | CA607159492 | PAH | c.352+203T>C (n.352+203T>C) c.337+203T>C (n.337+203T>C) n.274+203T>C n.448+203T>C c.336+203T>C n.441+203T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894532A>T | CA2059466377 | PAH | c.352+203T>A (n.352+203T>A) c.337+203T>A (n.337+203T>A) n.274+203T>A n.448+203T>A c.336+203T>A n.441+203T>A | dbSNP |
12 | g.102894533C= | CA2059466378 | PAH | c.352+202G= (n.352+202G=) c.337+202G= (n.337+202G=) n.274+202G= n.448+202G= c.336+202G= n.441+202G= | |
12 | g.102894533C>T | CA242509471 | PAH | c.352+202G>A (n.352+202G>A) c.337+202G>A (n.337+202G>A) n.274+202G>A n.448+202G>A c.336+202G>A n.441+202G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102894536_102894537insAAGATAGCTATT | CA2525950318 | PAH | c.352+198_352+199insAATAGCTATCTT (n.352+198_352+199insAATAGCTATCTT) c.337+198_337+199insAATAGCTATCTT (n.337+198_337+199insAATAGCTATCTT) n.274+198_274+199insAATAGCTATCTT n.448+198_448+199insAATAGCTATCTT c.336+198_336+199insAATAGCTATCTT n.441+198_441+199insAATAGCTATCTT | |
12 | g.102894536_102894537insAAGATAGCTATTTCTTTTTTCTTTTTTTTTTTTTACTTTATAAGCTTTTAATTTTTATTTATTTT | CA2541266172 | PAH | c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT (n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT) c.337+198_337+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT (n.337+198_337+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT) n.274+198_274+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT n.448+198_448+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT c.336+198_336+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT n.441+198_441+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT | |
12 | g.102894537T>A | CA2059466383 | PAH | c.352+198A>T (n.352+198A>T) c.337+198A>T (n.337+198A>T) n.274+198A>T n.448+198A>T c.336+198A>T n.441+198A>T | dbSNP |
12 | g.102894537T>C | CA2059466381 | PAH | c.352+198A>G (n.352+198A>G) c.337+198A>G (n.337+198A>G) n.274+198A>G n.448+198A>G c.336+198A>G n.441+198A>G | dbSNP |
12 | g.102894537T= | CA2059466384 | PAH | c.352+198A= (n.352+198A=) c.337+198A= (n.337+198A=) n.274+198A= n.448+198A= c.336+198A= n.441+198A= | |
12 | g.102894538G>A | CA2059466386 | PAH | c.352+197C>T (n.352+197C>T) c.337+197C>T (n.337+197C>T) n.274+197C>T n.448+197C>T c.336+197C>T n.441+197C>T | dbSNP |
12 | g.102894538G= | CA2059466385 | PAH | c.352+197C= (n.352+197C=) c.337+197C= (n.337+197C=) n.274+197C= n.448+197C= c.336+197C= n.441+197C= | |
12 | g.102894539T>C | CA951244386 | PAH | c.352+196A>G (n.352+196A>G) c.337+196A>G (n.337+196A>G) n.274+196A>G n.448+196A>G c.336+196A>G n.441+196A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894539T= | CA2059466388 | PAH | c.352+196A= (n.352+196A=) c.337+196A= (n.337+196A=) n.274+196A= n.448+196A= c.336+196A= n.441+196A= | |
12 | g.102894540C>A | CA242509472 | PAH | c.352+195G>T (n.352+195G>T) c.337+195G>T (n.337+195G>T) n.274+195G>T n.448+195G>T c.336+195G>T n.441+195G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102894540C= | CA2059466390 | PAH | c.352+195G= (n.352+195G=) c.337+195G= (n.337+195G=) n.274+195G= n.448+195G= c.336+195G= n.441+195G= | |
12 | g.102894540C>T | CA2059466392 | PAH | c.352+195G>A (n.352+195G>A) c.337+195G>A (n.337+195G>A) n.274+195G>A n.448+195G>A c.336+195G>A n.441+195G>A | dbSNP |