Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102893268_102899867delinsCAGGTGCCCA229463PAHc.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
12g.102893268_102899868delinsCAGGTGCCCA916084112PAHc.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
12g.102893272_102899867delinsCCTGCA229465PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAAAAACA951244240PAHc.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
12g.102894441_102894442insAAAAAAAAAAAATAAAAACTTATAAAGTAAAAAAAAAAAAACA951244159PAHc.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
12g.102894441_102894442insAAAAAAAAAAAATTAAAAGCTTAAAAAATAAAAAAAAAAAAACA951244157PAHc.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
12g.102894441_102894442insAAAAAAAAAAAATAAAAAATTAAAAAAGAAAAAAAAAAAAAACA951244162PAHc.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
12g.102894441_102894442insAAAAAAAAGAAATTAAAAGCTTAAAAAGAAAAAAAAAAAAAACA2601918480PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAACA951244171PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAAAAAAATAAAAAGCTTAAAAAGCAAAAAAAAAAAAACA951244232PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAATAAAAAAAAATTAAAAGCTTATAAAAAAAAAAAAAAAAAACA951244172PAHc.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
12g.102894441_102894442insAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAACA951244144PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAAAAAAAAAAATAAAAAATAAAAAATTAAAAAAAAAAAAAAAAAAAACA951244235PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAAAAAAAAAAAATAAAAATAAAAAGCTTAAAAAGAAAAAAAAAAAAACA951244244PAHc.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
12g.102894441_102894442insAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAAAAAAAAAAAAAACA951244164PAHc.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
12g.102894441_102894442insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAGCTAAAAAATAAAAAAAAAAAAAACA951244152PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAAAGAGAGAAAAATAAAAAAAAAAAAAAATTAAAAGCTTAAAAAATAAAAAAAAAAAAACA951244174PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAATTAAAAGCTTAAAAAATAAAAAAAAAAAAACA951244183PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAATAAAAAATAAAAGCTTATAAAGAAAAAAAAAAAAAAACA951244208PAHc.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
12g.102894441dupCA242509365PAHc.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
12g.102894440_102894441dupCA607159474PAHc.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
12g.102894439_102894441dupCA682829600PAHc.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
12g.102894438_102894441dupCA951244217PAHc.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
12g.102894437_102894441dupCA951244220PAHc.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
12g.102894436_102894441dupCA951244226PAHc.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
12g.102894435_102894441dupCA951244229PAHc.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
12g.102894434_102894441dupCA607159470PAHc.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
12g.102894441delCA607159468PAHc.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
12g.102894440_102894441delCA242509385PAHc.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
12g.102894441_102894442insAAAAAAAAAAAAATAAAAAAAAATAAAAATTAAAAAAAAAAACA607159475PAHc.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
12g.102894435A=CA2059466268PAHc.352+300T= (n.352+300T=)
c.337+300T= (n.337+300T=)
n.274+300T=
n.448+300T=
c.336+300T=
n.441+300T=
12g.102894435_102894436insGCA607159476PAHc.352+299_352+300insC (n.352+299_352+300insC)
c.337+299_337+300insC (n.337+299_337+300insC)
n.274+299_274+300insC
n.448+299_448+300insC
c.336+299_336+300insC
n.441+299_441+300insC
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102894435_102894436insTCA2059466270PAHc.352+299_352+300insA (n.352+299_352+300insA)
c.337+299_337+300insA (n.337+299_337+300insA)
n.274+299_274+300insA
n.448+299_448+300insA
c.336+299_336+300insA
n.441+299_441+300insA
 dbSNP
12g.102894436_102894442delinsAAAAAAGCA2059466271PAHc.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
12g.102894442_102894447delCA2059466273PAHc.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
12g.102894440A=CA2059466274PAHc.352+295T= (n.352+295T=)
c.337+295T= (n.337+295T=)
n.274+295T=
n.448+295T=
c.336+295T=
n.441+295T=
12g.102894440_102894441insTCA607159477PAHc.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
12g.102894442delCA2797242053PAHc.352+293del (n.352+293del)
c.337+293del (n.337+293del)
n.274+293del
n.448+293del
c.336+293del
n.441+293del
12g.102894442G>ACA242509389PAHc.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
12g.102894442G=CA2059466279PAHc.352+293C= (n.352+293C=)
c.337+293C= (n.337+293C=)
n.274+293C=
n.448+293C=
c.336+293C=
n.441+293C=
12g.102894443A=CA2059466283PAHc.352+292T= (n.352+292T=)
c.337+292T= (n.337+292T=)
n.274+292T=
n.448+292T=
c.336+292T=
n.441+292T=
12g.102894443A>GCA2059466284PAHc.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
12g.102894447A=CA2059466287PAHc.352+288T= (n.352+288T=)
c.337+288T= (n.337+288T=)
n.274+288T=
n.448+288T=
c.336+288T=
n.441+288T=
12g.102894449_102894458dupCA607159479PAHc.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
12g.102894449G>ACA607159481PAHc.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
12g.102894449G=CA2059466291PAHc.352+286C= (n.352+286C=)
c.337+286C= (n.337+286C=)
n.274+286C=
n.448+286C=
c.336+286C=
n.441+286C=
12g.102894449G>TCA951244268PAHc.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
12g.102894450A=CA2059466293PAHc.352+285T= (n.352+285T=)
c.337+285T= (n.337+285T=)
n.274+285T=
n.448+285T=
c.336+285T=
n.441+285T=
12g.102894450A>CCA242509416PAHc.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
12g.102894450A>TCA2059466294PAHc.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
12g.102894451A=CA2059466295PAHc.352+284T= (n.352+284T=)
c.337+284T= (n.337+284T=)
n.274+284T=
n.448+284T=
c.336+284T=
n.441+284T=
12g.102894451A>CCA242509419PAHc.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
12g.102894453T>ACA607159483PAHc.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
12g.102894453T=CA2059466296PAHc.352+282A= (n.352+282A=)
c.337+282A= (n.337+282A=)
n.274+282A=
n.448+282A=
c.336+282A=
n.441+282A=
12g.102894455G>ACA951244278PAHc.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
12g.102894456C>ACA607159485PAHc.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
12g.102894456C=CA2059466297PAHc.352+279G= (n.352+279G=)
c.337+279G= (n.337+279G=)
n.274+279G=
n.448+279G=
c.336+279G=
n.441+279G=
12g.102894457T>ACA951244286PAHc.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
12g.102894457T>CCA951244293PAHc.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
12g.102894457T=CA2059466298PAHc.352+278A= (n.352+278A=)
c.337+278A= (n.337+278A=)
n.274+278A=
n.448+278A=
c.336+278A=
n.441+278A=
12g.102894459T>ACA951244296PAHc.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
12g.102894459T>CCA242509426PAHc.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
12g.102894459T=CA2059466301PAHc.352+276A= (n.352+276A=)
c.337+276A= (n.337+276A=)
n.274+276A=
n.448+276A=
c.336+276A=
n.441+276A=
12g.102894460C>TCA2797242060PAHc.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
12g.102894463T>CCA242509432PAHc.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
12g.102894463T=CA2059466303PAHc.352+272A= (n.352+272A=)
c.337+272A= (n.337+272A=)
n.274+272A=
n.448+272A=
c.336+272A=
n.441+272A=
12g.102894466G>ACA951244310PAHc.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
12g.102894466G=CA2059466307PAHc.352+269C= (n.352+269C=)
c.337+269C= (n.337+269C=)
n.274+269C=
n.448+269C=
c.336+269C=
n.441+269C=
12g.102894467A>TCA2726969380PAHc.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
12g.102894469G=CA2059466311PAHc.352+266C= (n.352+266C=)
c.337+266C= (n.337+266C=)
n.274+266C=
n.448+266C=
c.336+266C=
n.441+266C=
12g.102894469G>TCA607159486PAHc.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
12g.102894470G>ACA951244316PAHc.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
12g.102894471G>ACA951244326PAHc.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
12g.102894472G>ACA607159487PAHc.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
12g.102894472G=CA2059466313PAHc.352+263C= (n.352+263C=)
c.337+263C= (n.337+263C=)
n.274+263C=
n.448+263C=
c.336+263C=
n.441+263C=
12g.102894478T>ACA682829662PAHc.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
12g.102894478T>CCA242509434PAHc.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
12g.102894478T=CA2059466315PAHc.352+257A= (n.352+257A=)
c.337+257A= (n.337+257A=)
n.274+257A=
n.448+257A=
c.336+257A=
n.441+257A=
12g.102894479A=CA2059466318PAHc.352+256T= (n.352+256T=)
c.337+256T= (n.337+256T=)
n.274+256T=
n.448+256T=
c.336+256T=
n.441+256T=
12g.102894479A>CCA242509447PAHc.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
12g.102894480A=CA2059466322PAHc.352+255T= (n.352+255T=)
c.337+255T= (n.337+255T=)
n.274+255T=
n.448+255T=
c.336+255T=
n.441+255T=
12g.102894480A>GCA951244343PAHc.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
12g.102894481C>ACA951244351PAHc.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
12g.102894482T>ACA951244353PAHc.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
12g.102894482T>CCA2059466325PAHc.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
12g.102894482T=CA2059466324PAHc.352+253A= (n.352+253A=)
c.337+253A= (n.337+253A=)
n.274+253A=
n.448+253A=
c.336+253A=
n.441+253A=
12g.102894483A=CA2059466327PAHc.352+252T= (n.352+252T=)
c.337+252T= (n.337+252T=)
n.274+252T=
n.448+252T=
c.336+252T=
n.441+252T=
12g.102894483A>GCA242509450PAHc.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
12g.102894493A=CA2059466330PAHc.352+242T= (n.352+242T=)
c.337+242T= (n.337+242T=)
n.274+242T=
n.448+242T=
c.336+242T=
n.441+242T=
12g.102894493A>CCA2059466332PAHc.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
12g.102894493A>GCA2059466331PAHc.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
12g.102894494T>CCA2059466336PAHc.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
12g.102894494T=CA2059466334PAHc.352+241A= (n.352+241A=)
c.337+241A= (n.337+241A=)
n.274+241A=
n.448+241A=
c.336+241A=
n.441+241A=
12g.102894495A=CA2059466338PAHc.352+240T= (n.352+240T=)
c.337+240T= (n.337+240T=)
n.274+240T=
n.448+240T=
c.336+240T=
n.441+240T=
12g.102894495A>GCA242509451PAHc.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
12g.102894498T>CCA242509454PAHc.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
12g.102894498T=CA2059466341PAHc.352+237A= (n.352+237A=)
c.337+237A= (n.337+237A=)
n.274+237A=
n.448+237A=
c.336+237A=
n.441+237A=
12g.102894499C=CA2059466343PAHc.352+236G= (n.352+236G=)
c.337+236G= (n.337+236G=)
n.274+236G=
n.448+236G=
c.336+236G=
n.441+236G=
12g.102894499C>TCA2059466344PAHc.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
12g.102894500T>GCA951244367PAHc.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
12g.102894500T=CA2059466346PAHc.352+235A= (n.352+235A=)
c.337+235A= (n.337+235A=)
n.274+235A=
n.448+235A=
c.336+235A=
n.441+235A=
12g.102894501A=CA2059466347PAHc.352+234T= (n.352+234T=)
c.337+234T= (n.337+234T=)
n.274+234T=
n.448+234T=
c.336+234T=
n.441+234T=
12g.102894501A>GCA242509461PAHc.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
12g.102894507T>CCA2059466353PAHc.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
12g.102894507T=CA2059466351PAHc.352+228A= (n.352+228A=)
c.337+228A= (n.337+228A=)
n.274+228A=
n.448+228A=
c.336+228A=
n.441+228A=
12g.102894508A>CCA2516297043PAHc.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
12g.102894509C=CA2059466354PAHc.352+226G= (n.352+226G=)
c.337+226G= (n.337+226G=)
n.274+226G=
n.448+226G=
c.336+226G=
n.441+226G=
12g.102894509C>GCA682829670PAHc.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
12g.102894510C=CA2059466356PAHc.352+225G= (n.352+225G=)
c.337+225G= (n.337+225G=)
n.274+225G=
n.448+225G=
c.336+225G=
n.441+225G=
12g.102894510C>GCA682829677PAHc.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
12g.102894513G=CA2059466358PAHc.352+222C= (n.352+222C=)
c.337+222C= (n.337+222C=)
n.274+222C=
n.448+222C=
c.336+222C=
n.441+222C=
12g.102894513G>TCA2059466359PAHc.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
12g.102894514C=CA2059466361PAHc.352+221G= (n.352+221G=)
c.337+221G= (n.337+221G=)
n.274+221G=
n.448+221G=
c.336+221G=
n.441+221G=
12g.102894514C>GCA682829684PAHc.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
12g.102894515A>TCA2797242063PAHc.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
12g.102894516C=CA2059466365PAHc.352+219G= (n.352+219G=)
c.337+219G= (n.337+219G=)
n.274+219G=
n.448+219G=
c.336+219G=
n.441+219G=
12g.102894516C>TCA242509465PAHc.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
12g.102894518T>ACA242509470PAHc.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
12g.102894518T=CA2059466367PAHc.352+217A= (n.352+217A=)
c.337+217A= (n.337+217A=)
n.274+217A=
n.448+217A=
c.336+217A=
n.441+217A=
12g.102894525G>CCA2059466371PAHc.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
12g.102894525G=CA2059466369PAHc.352+210C= (n.352+210C=)
c.337+210C= (n.337+210C=)
n.274+210C=
n.448+210C=
c.336+210C=
n.441+210C=
12g.102894527C>TCA2797242065PAHc.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
12g.102894530C>ACA2059466373PAHc.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
12g.102894530C=CA2059466372PAHc.352+205G= (n.352+205G=)
c.337+205G= (n.337+205G=)
n.274+205G=
n.448+205G=
c.336+205G=
n.441+205G=
12g.102894532A=CA2059466375PAHc.352+203T= (n.352+203T=)
c.337+203T= (n.337+203T=)
n.274+203T=
n.448+203T=
c.336+203T=
n.441+203T=
12g.102894532A>GCA607159492PAHc.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
12g.102894532A>TCA2059466377PAHc.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

Number of alleles fetched