| 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.102894733A>C | CA386303914 | PAH | c.352+2T>G (n.352+2T>G) c.337+2T>G (n.337+2T>G) n.274+2T>G n.448+2T>G c.336+2T>G n.441+2T>G | |
| 12 | g.102894733A>G | CA386303915 | PAH | c.352+2T>C (n.352+2T>C) c.337+2T>C (n.337+2T>C) n.274+2T>C n.448+2T>C c.336+2T>C n.441+2T>C | |
| 12 | g.102894733A>T | CA386303916 | PAH | c.352+2T>A (n.352+2T>A) c.337+2T>A (n.337+2T>A) n.274+2T>A n.448+2T>A c.336+2T>A n.441+2T>A | |
| 12 | g.102894733dup | CA16041560 | PAH | c.352+2dup (n.352+2dup) c.337+2dup (n.337+2dup) n.274+2dup n.448+2dup c.336+2dup n.441+2dup | ClinVar dbSNP |
| 12 | g.102894733_102894917delinsACCTGTGTCTTTCTTCTTATCTCGTGAAAGCTCATGGACAGTGGCACCAATGTCATGCCTCAAGATCTTGATGATGTTTGTCAGAGCAGGCAGGCTACGTTTATCCAAATGGGTGAAAAATTCATACTCATCTTTCTTTAAACGAGAAGGTCTAGATTCAATGTGGGTCAGGTTTACATCATTCT | CA2059466529 | PAH | c.170_352+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.155_337+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.92_274+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.266_448+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.154_336+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.259_441+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT | |
| 12 | g.102894734C>A | CA386303917 | PAH | c.352+1G>T (n.352+1G>T) c.337+1G>T (n.337+1G>T) n.274+1G>T n.448+1G>T c.336+1G>T n.441+1G>T | |
| 12 | g.102894734C= | CA2059466532 | PAH | c.352+1G= (n.352+1G=) c.337+1G= (n.337+1G=) n.274+1G= n.448+1G= c.336+1G= n.441+1G= | |
| 12 | g.102894734C>G | CA386303918 | PAH | c.352+1G>C (n.352+1G>C) c.337+1G>C (n.337+1G>C) n.274+1G>C n.448+1G>C c.336+1G>C n.441+1G>C | |
| 12 | g.102894734C>T | CA229519 | PAH | c.352+1G>A (n.352+1G>A) c.337+1G>A (n.337+1G>A) n.274+1G>A n.448+1G>A c.336+1G>A n.441+1G>A | ClinVar dbSNP |
| 12 | g.102894737_102894920del | CA16020769 | PAH | c.170_352+1del c.155_337+1del n.92_274+1del n.266_448+1del c.154_336+1del n.259_441+1del | dbSNP |
| 12 | g.102894735C>A | CA386303919 | PAH | c.352G>T (p.Val118Leu) c.337G>T (p.Val113Leu) c.352G>T n.274G>T n.448G>T c.336G>T n.441G>T | |
| 12 | g.102894735C= | CA2059466535 | PAH | c.352G= (p.Val118=) c.337G= (p.Val113=) c.352G= n.274G= n.448G= c.336G= n.441G= | |
| 12 | g.102894735C>G | CA386303920 | PAH | c.352G>C (p.Val118Leu) c.337G>C (p.Val113Leu) c.352G>C n.274G>C n.448G>C c.336G>C n.441G>C | |
| 12 | g.102894735C>T | CA6748982 | PAH | c.352G>A (p.Val118Met) c.337G>A (p.Val113Met) c.352G>A n.274G>A n.448G>A c.336G>A n.441G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102894736T>A | CA481333120 | PAH | c.351A>T (p.Thr117=) c.336A>T (p.Thr112=) n.273A>T n.447A>T c.335A>T n.440A>T | gnomAD v4 |
| 12 | g.102894736T>C | CA481333123 | PAH | c.351A>G (p.Thr117=) c.336A>G (p.Thr112=) n.273A>G n.447A>G c.335A>G n.440A>G | gnomAD v4 |
| 12 | g.102894736T>G | CA481333121 | PAH | c.351A>C (p.Thr117=) c.336A>C (p.Thr112=) n.273A>C n.447A>C c.335A>C n.440A>C | COSMIC |
| 12 | g.102894736_102894737delinsTG | CA2059466538 | PAH | c.350_351delinsCA (p.Thr117=) c.335_336delinsCA (p.Thr112=) n.272_273delinsCA n.446_447delinsCA c.334_335delinsCA n.439_440delinsCA | |
| 12 | g.102894739_102894740del | CA2580614531 | PAH | c.350_351del (p.Thr117SerfsTer28) c.335_336del (p.Thr112SerfsTer28) c.350_351del (p.Thr117=) n.272_273del n.446_447del c.334_335del c.350_351del (p.Thr117SerfsTer?) n.439_440del | ClinVar |
| 12 | g.102894737del | CA267653 | PAH | c.350del (p.Thr117LysfsTer?) c.335del (p.Thr112LysfsTer?) n.272del n.446del c.334del n.439del | ClinVar dbSNP |
| 12 | g.102894737G>A | CA267651 | PAH | c.350C>T (p.Thr117Ile) c.335C>T (p.Thr112Ile) n.272C>T n.446C>T c.334C>T n.439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894737G>C | CA386303921 | PAH | c.350C>G (p.Thr117Arg) c.335C>G (p.Thr112Arg) n.272C>G n.446C>G c.334C>G n.439C>G | |
| 12 | g.102894737G= | CA2059466549 | PAH | c.350C= (p.Thr117=) c.335C= (p.Thr112=) n.272C= n.446C= c.334C= n.439C= | |
| 12 | g.102894737G>T | CA386303922 | PAH | c.350C>A (p.Thr117Lys) c.335C>A (p.Thr112Lys) n.272C>A n.446C>A c.334C>A n.439C>A | |
| 12 | g.102894738T>A | CA386303925 | PAH | c.349A>T (p.Thr117Ser) c.334A>T (p.Thr112Ser) n.271A>T n.445A>T c.333A>T n.438A>T | |
| 12 | g.102894738T>C | CA386303924 | PAH | c.349A>G (p.Thr117Ala) c.334A>G (p.Thr112Ala) n.271A>G n.445A>G c.333A>G n.438A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102894738T>G | CA386303923 | PAH | c.349A>C (p.Thr117Pro) c.334A>C (p.Thr112Pro) n.271A>C n.445A>C c.333A>C n.438A>C | |
| 12 | g.102894738T= | CA2059466551 | PAH | c.349A= (p.Thr117=) c.334A= (p.Thr112=) n.271A= n.445A= c.333A= n.438A= | |
| 12 | g.102894739G>A | CA481333126 | PAH | c.348C>T (p.Asp116=) c.333C>T (p.Asp111=) n.270C>T n.444C>T c.332C>T n.437C>T | gnomAD v4 |
| 12 | g.102894739G>C | CA386303926 | PAH | c.348C>G (p.Asp116Glu) c.333C>G (p.Asp111Glu) n.270C>G n.444C>G c.332C>G n.437C>G | |
| 12 | g.102894739G>T | CA386303927 | PAH | c.348C>A (p.Asp116Glu) c.333C>A (p.Asp111Glu) n.270C>A n.444C>A c.332C>A n.437C>A | |
| 12 | g.102894739_102894741delinsGTC | CA2059466554 | PAH | c.346_348delinsGAC (p.Asp116=) c.331_333delinsGAC (p.Asp111=) n.268_270delinsGAC n.442_444delinsGAC c.330_332delinsGAC n.435_437delinsGAC | |
| 12 | g.102894739_102894743delinsGTCTT | CA2059466553 | PAH | c.344_348delinsAAGAC (p.Lys115=) c.329_333delinsAAGAC (p.Lys110=) n.266_270delinsAAGAC n.440_444delinsAAGAC c.328_332delinsAAGAC n.433_437delinsAAGAC | |
| 12 | g.102894740T>A | CA386303928 | PAH | c.347A>T (p.Asp116Val) c.332A>T (p.Asp111Val) n.269A>T n.443A>T c.331A>T n.436A>T | |
| 12 | g.102894740T>C | CA386303929 | PAH | c.347A>G (p.Asp116Gly) c.332A>G (p.Asp111Gly) n.269A>G n.443A>G c.331A>G n.436A>G | COSMIC |
| 12 | g.102894740T>G | CA386303930 | PAH | c.347A>C (p.Asp116Ala) c.332A>C (p.Asp111Ala) n.269A>C n.443A>C c.331A>C n.436A>C | |
| 12 | g.102894741_102894742del | CA915946683 | PAH | c.346_347del (p.Asp116HisfsTer29) c.331_332del (p.Asp111HisfsTer29) c.346_347del (p.Asp116HisfsTer?) n.268_269del n.442_443del c.330_331del n.435_436del | ClinVar dbSNP |
| 12 | g.102894744_102894747del | CA229518 | PAH | c.344_347del (p.Lys115ThrfsTer?) c.329_332del (p.Lys110ThrfsTer?) n.266_269del n.440_443del c.328_331del n.433_436del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894741C>A | CA386303931 | PAH | c.346G>T (p.Asp116Tyr) c.331G>T (p.Asp111Tyr) n.268G>T n.442G>T c.330G>T n.435G>T | |
| 12 | g.102894741C>G | CA386303933 | PAH | c.346G>C (p.Asp116His) c.331G>C (p.Asp111His) n.268G>C n.442G>C c.330G>C n.435G>C | COSMIC |
| 12 | g.102894741C>T | CA386303932 | PAH | c.346G>A (p.Asp116Asn) c.331G>A (p.Asp111Asn) n.268G>A n.442G>A c.330G>A n.435G>A | |
| 12 | g.102894742T>A | CA386303934 | PAH | c.345A>T (p.Lys115Asn) c.330A>T (p.Lys110Asn) n.267A>T n.441A>T c.329A>T n.434A>T | |
| 12 | g.102894742T>C | CA481333131 | PAH | c.345A>G (p.Lys115=) c.330A>G (p.Lys110=) n.267A>G n.441A>G c.329A>G n.434A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102894742T>G | CA386303935 | PAH | c.345A>C (p.Lys115Asn) c.330A>C (p.Lys110Asn) n.267A>C n.441A>C c.329A>C n.434A>C | |
| 12 | g.102894742T= | CA2059466560 | PAH | c.345A= (p.Lys115=) c.330A= (p.Lys110=) n.267A= n.441A= c.329A= n.434A= | |
| 12 | g.102894742_102894745delinsTTTC | CA2059466559 | PAH | c.342_345delinsGAAA (p.Lys114=) c.327_330delinsGAAA (p.Lys109=) n.264_267delinsGAAA n.438_441delinsGAAA c.326_329delinsGAAA n.431_434delinsGAAA | |
| 12 | g.102894743T>A | CA386303936 | PAH | c.344A>T (p.Lys115Ile) c.329A>T (p.Lys110Ile) n.266A>T n.440A>T c.328A>T n.433A>T |