| 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.102894373_102894378delinsCAAAAG | CA2059450422 | PAH | c.352+357_352+362delinsCTTTTG (n.352+357_352+362delinsCTTTTG) c.337+357_337+362delinsCTTTTG (n.337+357_337+362delinsCTTTTG) n.274+357_274+362delinsCTTTTG n.448+357_448+362delinsCTTTTG c.336+357_336+362delinsCTTTTG n.441+357_441+362delinsCTTTTG | |
| 12 | g.102894378_102894382del | CA242509317 | PAH | c.352+357_352+361del (n.352+357_352+361del) c.337+357_337+361del (n.337+357_337+361del) n.274+357_274+361del n.448+357_448+361del c.336+357_336+361del n.441+357_441+361del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894378G>A | CA607159462 | PAH | c.352+357C>T (n.352+357C>T) c.337+357C>T (n.337+357C>T) n.274+357C>T n.448+357C>T c.336+357C>T n.441+357C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894378G= | CA2059450429 | PAH | c.352+357C= (n.352+357C=) c.337+357C= (n.337+357C=) n.274+357C= n.448+357C= c.336+357C= n.441+357C= | |
| 12 | g.102894383A>C | CA2726969376 | PAH | c.352+352T>G (n.352+352T>G) c.337+352T>G (n.337+352T>G) n.274+352T>G n.448+352T>G c.336+352T>G n.441+352T>G | dbSNP |
| 12 | g.102894383_102894385delinsAAG | CA2059450430 | PAH | c.352+350_352+352delinsCTT (n.352+350_352+352delinsCTT) c.337+350_337+352delinsCTT (n.337+350_337+352delinsCTT) n.274+350_274+352delinsCTT n.448+350_448+352delinsCTT c.336+350_336+352delinsCTT n.441+350_441+352delinsCTT | |
| 12 | g.102894391_102894392del | CA2059450431 | PAH | c.352+350_352+351del (n.352+350_352+351del) c.337+350_337+351del (n.337+350_337+351del) n.274+350_274+351del n.448+350_448+351del c.336+350_336+351del n.441+350_441+351del | dbSNP |
| 12 | g.102894385G>A | CA951244042 | PAH | c.352+350C>T (n.352+350C>T) c.337+350C>T (n.337+350C>T) n.274+350C>T n.448+350C>T c.336+350C>T n.441+350C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894385G>C | CA2059450434 | PAH | c.352+350C>G (n.352+350C>G) c.337+350C>G (n.337+350C>G) n.274+350C>G n.448+350C>G c.336+350C>G n.441+350C>G | dbSNP |
| 12 | g.102894385G= | CA2059450432 | PAH | c.352+350C= (n.352+350C=) c.337+350C= (n.337+350C=) n.274+350C= n.448+350C= c.336+350C= n.441+350C= | |
| 12 | g.102894387G>A | CA951244049 | PAH | c.352+348C>T (n.352+348C>T) c.337+348C>T (n.337+348C>T) n.274+348C>T n.448+348C>T c.336+348C>T n.441+348C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894387G>C | CA242509335 | PAH | c.352+348C>G (n.352+348C>G) c.337+348C>G (n.337+348C>G) n.274+348C>G n.448+348C>G c.336+348C>G n.441+348C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894387G= | CA2059450442 | PAH | c.352+348C= (n.352+348C=) c.337+348C= (n.337+348C=) n.274+348C= n.448+348C= c.336+348C= n.441+348C= | |
| 12 | g.102894389G>A | CA951244054 | PAH | c.352+346C>T (n.352+346C>T) c.337+346C>T (n.337+346C>T) n.274+346C>T n.448+346C>T c.336+346C>T n.441+346C>T | gnomAD v3 gnomAD v4 |
| 12 | g.102894389G>C | CA2601918477 | PAH | c.352+346C>G (n.352+346C>G) c.337+346C>G (n.337+346C>G) n.274+346C>G n.448+346C>G c.336+346C>G n.441+346C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894391G>A | CA682829554 | PAH | c.352+344C>T (n.352+344C>T) c.337+344C>T (n.337+344C>T) n.274+344C>T n.448+344C>T c.336+344C>T n.441+344C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894391G= | CA2059450443 | PAH | c.352+344C= (n.352+344C=) c.337+344C= (n.337+344C=) n.274+344C= n.448+344C= c.336+344C= n.441+344C= | |
| 12 | g.102894395A= | CA2059466165 | PAH | c.352+340T= (n.352+340T=) c.337+340T= (n.337+340T=) n.274+340T= n.448+340T= c.336+340T= n.441+340T= | |
| 12 | g.102894395A>C | CA2565042976 | PAH | c.352+340T>G (n.352+340T>G) c.337+340T>G (n.337+340T>G) n.274+340T>G n.448+340T>G c.336+340T>G n.441+340T>G | |
| 12 | g.102894397_102894404dup | CA682829555 | PAH | c.352+332_352+339dup (n.352+332_352+339dup) c.337+332_337+339dup (n.337+332_337+339dup) n.274+332_274+339dup n.448+332_448+339dup c.336+332_336+339dup n.441+332_441+339dup | dbSNP |
| 12 | g.102894397T>A | CA682829559 | PAH | c.352+338A>T (n.352+338A>T) c.337+338A>T (n.337+338A>T) n.274+338A>T n.448+338A>T c.336+338A>T n.441+338A>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894397T>C | CA242509343 | PAH | c.352+338A>G (n.352+338A>G) c.337+338A>G (n.337+338A>G) n.274+338A>G n.448+338A>G c.336+338A>G n.441+338A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894397T= | CA2059466190 | PAH | c.352+338A= (n.352+338A=) c.337+338A= (n.337+338A=) n.274+338A= n.448+338A= c.336+338A= n.441+338A= | |
| 12 | g.102894398A= | CA2059466194 | PAH | c.352+337T= (n.352+337T=) c.337+337T= (n.337+337T=) n.274+337T= n.448+337T= c.336+337T= n.441+337T= | |
| 12 | g.102894398A>G | CA242509349 | PAH | c.352+337T>C (n.352+337T>C) c.337+337T>C (n.337+337T>C) n.274+337T>C n.448+337T>C c.336+337T>C n.441+337T>C | dbSNP |
| 12 | g.102894402A>C | CA481333114 | PAH | c.352+333T>G (n.352+333T>G) c.337+333T>G (n.337+333T>G) n.274+333T>G n.448+333T>G c.336+333T>G n.441+333T>G | |
| 12 | g.102894403T>A | CA682829566 | PAH | c.352+332A>T (n.352+332A>T) c.337+332A>T (n.337+332A>T) n.274+332A>T n.448+332A>T c.336+332A>T n.441+332A>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894403T= | CA2059466196 | PAH | c.352+332A= (n.352+332A=) c.337+332A= (n.337+332A=) n.274+332A= n.448+332A= c.336+332A= n.441+332A= | |
| 12 | g.102894405A= | CA2059466200 | PAH | c.352+330T= (n.352+330T=) c.337+330T= (n.337+330T=) n.274+330T= n.448+330T= c.336+330T= n.441+330T= | |
| 12 | g.102894405A>G | CA951244071 | PAH | c.352+330T>C (n.352+330T>C) c.337+330T>C (n.337+330T>C) n.274+330T>C n.448+330T>C c.336+330T>C n.441+330T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894406A= | CA2059466201 | PAH | c.352+329T= (n.352+329T=) c.337+329T= (n.337+329T=) n.274+329T= n.448+329T= c.336+329T= n.441+329T= | |
| 12 | g.102894406A>G | CA2059466202 | PAH | c.352+329T>C (n.352+329T>C) c.337+329T>C (n.337+329T>C) n.274+329T>C n.448+329T>C c.336+329T>C n.441+329T>C | dbSNP |
| 12 | g.102894407T>A | CA951244074 | PAH | c.352+328A>T (n.352+328A>T) c.337+328A>T (n.337+328A>T) n.274+328A>T n.448+328A>T c.336+328A>T n.441+328A>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894407T= | CA2059466204 | PAH | c.352+328A= (n.352+328A=) c.337+328A= (n.337+328A=) n.274+328A= n.448+328A= c.336+328A= n.441+328A= | |
| 12 | g.102894409A= | CA2059466206 | PAH | c.352+326T= (n.352+326T=) c.337+326T= (n.337+326T=) n.274+326T= n.448+326T= c.336+326T= n.441+326T= | |
| 12 | g.102894409A>C | CA242509351 | PAH | c.352+326T>G (n.352+326T>G) c.337+326T>G (n.337+326T>G) n.274+326T>G n.448+326T>G c.336+326T>G n.441+326T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894411A= | CA2059466208 | PAH | c.352+324T= (n.352+324T=) c.337+324T= (n.337+324T=) n.274+324T= n.448+324T= c.336+324T= n.441+324T= | |
| 12 | g.102894411A>G | CA2059466209 | PAH | c.352+324T>C (n.352+324T>C) c.337+324T>C (n.337+324T>C) n.274+324T>C n.448+324T>C c.336+324T>C n.441+324T>C | dbSNP |
| 12 | g.102894413T>A | CA951244079 | PAH | c.352+322A>T (n.352+322A>T) c.337+322A>T (n.337+322A>T) n.274+322A>T n.448+322A>T c.336+322A>T n.441+322A>T | gnomAD v3 gnomAD v4 |
| 12 | g.102894414T>A | CA951244084 | PAH | c.352+321A>T (n.352+321A>T) c.337+321A>T (n.337+321A>T) n.274+321A>T n.448+321A>T c.336+321A>T n.441+321A>T | gnomAD v3 gnomAD v4 |
| 12 | g.102894419G>A | CA951244091 | PAH | c.352+316C>T (n.352+316C>T) c.337+316C>T (n.337+316C>T) n.274+316C>T n.448+316C>T c.336+316C>T n.441+316C>T | gnomAD v3 gnomAD v4 |
| 12 | g.102894420C>A | CA951244092 | PAH | c.352+315G>T (n.352+315G>T) c.337+315G>T (n.337+315G>T) n.274+315G>T n.448+315G>T c.336+315G>T n.441+315G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894420C= | CA2059466210 | PAH | c.352+315G= (n.352+315G=) c.337+315G= (n.337+315G=) n.274+315G= n.448+315G= c.336+315G= n.441+315G= | |
| 12 | g.102894421T>A | CA951244093 | PAH | c.352+314A>T (n.352+314A>T) c.337+314A>T (n.337+314A>T) n.274+314A>T n.448+314A>T c.336+314A>T n.441+314A>T | gnomAD v3 gnomAD v4 |
| 12 | g.102894421T>C | CA2059466214 | PAH | c.352+314A>G (n.352+314A>G) c.337+314A>G (n.337+314A>G) n.274+314A>G n.448+314A>G c.336+314A>G n.441+314A>G | dbSNP |
| 12 | g.102894421T= | CA2059466213 | PAH | c.352+314A= (n.352+314A=) c.337+314A= (n.337+314A=) n.274+314A= n.448+314A= c.336+314A= n.441+314A= | |
| 12 | g.102894422T>A | CA951244094 | PAH | c.352+313A>T (n.352+313A>T) c.337+313A>T (n.337+313A>T) n.274+313A>T n.448+313A>T c.336+313A>T n.441+313A>T | gnomAD v3 gnomAD v4 |
| 12 | g.102894424T>A | CA951244095 | PAH | c.352+311A>T (n.352+311A>T) c.337+311A>T (n.337+311A>T) n.274+311A>T n.448+311A>T c.336+311A>T n.441+311A>T | gnomAD v3 gnomAD v4 |
| 12 | g.102894425A= | CA2059466216 | PAH | c.352+310T= (n.352+310T=) c.337+310T= (n.337+310T=) n.274+310T= n.448+310T= c.336+310T= n.441+310T= | |
| 12 | g.102894425A>G | CA951244097 | PAH | c.352+310T>C (n.352+310T>C) c.337+310T>C (n.337+310T>C) n.274+310T>C n.448+310T>C c.336+310T>C n.441+310T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894427del | CA2797242026 | PAH | c.352+310del (n.352+310del) c.337+310del (n.337+310del) n.274+310del n.448+310del c.336+310del n.441+310del | |
| 12 | g.102894426A= | CA2059466219 | PAH | c.352+309T= (n.352+309T=) c.337+309T= (n.337+309T=) n.274+309T= n.448+309T= c.336+309T= n.441+309T= | |
| 12 | g.102894426A>C | CA607159465 | PAH | c.352+309T>G (n.352+309T>G) c.337+309T>G (n.337+309T>G) n.274+309T>G n.448+309T>G c.336+309T>G n.441+309T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894426A>G | CA682829571 | PAH | c.352+309T>C (n.352+309T>C) c.337+309T>C (n.337+309T>C) n.274+309T>C n.448+309T>C c.336+309T>C n.441+309T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894428G>A | CA607159466 | PAH | c.352+307C>T (n.352+307C>T) c.337+307C>T (n.337+307C>T) n.274+307C>T n.448+307C>T c.336+307C>T n.441+307C>T | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894428G= | CA2059466221 | PAH | c.352+307C= (n.352+307C=) c.337+307C= (n.337+307C=) n.274+307C= n.448+307C= c.336+307C= n.441+307C= | |
| 12 | g.102894428_102894429del | CA951244101 | PAH | c.352+306_352+307del (n.352+306_352+307del) c.337+306_337+307del (n.337+306_337+307del) n.274+306_274+307del n.448+306_448+307del c.336+306_336+307del n.441+306_441+307del | gnomAD v3 gnomAD v4 |
| 12 | g.102894428_102894429insA | CA951244108 | PAH | c.352+306_352+307insT (n.352+306_352+307insT) c.337+306_337+307insT (n.337+306_337+307insT) n.274+306_274+307insT n.448+306_448+307insT c.336+306_336+307insT n.441+306_441+307insT | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894429T>A | CA242509352 | PAH | c.352+306A>T (n.352+306A>T) c.337+306A>T (n.337+306A>T) n.274+306A>T n.448+306A>T c.336+306A>T n.441+306A>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894429T= | CA2059466228 | PAH | c.352+306A= (n.352+306A=) c.337+306A= (n.337+306A=) n.274+306A= n.448+306A= c.336+306A= n.441+306A= | |
| 12 | g.102894429_102894431delinsTAA | CA2059466226 | PAH | c.352+304_352+306delinsTTA (n.352+304_352+306delinsTTA) c.337+304_337+306delinsTTA (n.337+304_337+306delinsTTA) n.274+304_274+306delinsTTA n.448+304_448+306delinsTTA c.336+304_336+306delinsTTA n.441+304_441+306delinsTTA | |
| 12 | g.102894429_102894430insG | CA682829594 | PAH | c.352+305_352+306insC (n.352+305_352+306insC) c.337+305_337+306insC (n.337+305_337+306insC) n.274+305_274+306insC n.448+305_448+306insC c.336+305_336+306insC n.441+305_441+306insC | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894430A= | CA2059466255 | PAH | c.352+305T= (n.352+305T=) c.337+305T= (n.337+305T=) n.274+305T= n.448+305T= c.336+305T= n.441+305T= | |
| 12 | g.102894430A>G | CA242509387 | PAH | c.352+305T>C (n.352+305T>C) c.337+305T>C (n.337+305T>C) n.274+305T>C n.448+305T>C c.336+305T>C n.441+305T>C | dbSNP |
| 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.102894430_102894431insG | CA682829610 | PAH | c.352+304_352+305insC (n.352+304_352+305insC) c.337+304_337+305insC (n.337+304_337+305insC) n.274+304_274+305insC n.448+304_448+305insC c.336+304_336+305insC n.441+304_441+305insC | dbSNP 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.102894435A= | CA2059466268 | PAH | c.352+300T= (n.352+300T=) c.337+300T= (n.337+300T=) n.274+300T= n.448+300T= c.336+300T= n.441+300T= | |
| 12 | g.102894435_102894436insG | CA607159476 | PAH | c.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 |
| 12 | g.102894435_102894436insT | CA2059466270 | PAH | c.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 |
| 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= |