| 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.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.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.102894788T>A | CA386304029 | PAH | c.299A>T (p.His100Leu) c.284A>T (p.His95Leu) n.221A>T n.395A>T c.283A>T n.388A>T | |
| 12 | g.102894788T>C | CA6748985 | PAH | c.299A>G (p.His100Arg) c.284A>G (p.His95Arg) n.221A>G n.395A>G c.283A>G n.388A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894788T>G | CA386304030 | PAH | c.299A>C (p.His100Pro) c.284A>C (p.His95Pro) n.221A>C n.395A>C c.283A>C n.388A>C | |
| 12 | g.102894788T= | CA2059466666 | PAH | c.299A= (p.His100=) c.284A= (p.His95=) n.221A= n.395A= c.283A= n.388A= | |
| 12 | g.102894789G>A | CA386304031 | PAH | c.298C>T (p.His100Tyr) c.283C>T (p.His95Tyr) n.220C>T n.394C>T c.282C>T n.387C>T | |
| 12 | g.102894789G>C | CA386304032 | PAH | c.298C>G (p.His100Asp) c.283C>G (p.His95Asp) n.220C>G n.394C>G c.282C>G n.387C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894789G= | CA2059466675 | PAH | c.298C= (p.His100=) c.283C= (p.His95=) n.220C= n.394C= c.282C= n.387C= | |
| 12 | g.102894789G>T | CA386304033 | PAH | c.298C>A (p.His100Asn) c.283C>A (p.His95Asn) n.220C>A n.394C>A c.282C>A n.387C>A | |
| 12 | g.102894790C>A | CA386304034 | PAH | c.297G>T (p.Arg99Ser) c.282G>T (p.Arg94Ser) n.219G>T n.393G>T c.281G>T n.386G>T | gnomAD v4 |
| 12 | g.102894790C= | CA2059466677 | PAH | c.297G= (p.Arg99=) c.282G= (p.Arg94=) n.219G= n.393G= c.281G= n.386G= | |
| 12 | g.102894790C>G | CA386304035 | PAH | c.297G>C (p.Arg99Ser) c.282G>C (p.Arg94Ser) n.219G>C n.393G>C c.281G>C n.386G>C | |
| 12 | g.102894790C>T | CA481333187 | PAH | c.297G>A (p.Arg99=) c.282G>A (p.Arg94=) n.219G>A n.393G>A c.281G>A n.386G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102894791C>A | CA386304036 | PAH | c.296G>T (p.Arg99Met) c.281G>T (p.Arg94Met) n.218G>T n.392G>T c.280G>T n.385G>T | |
| 12 | g.102894791C= | CA2059466678 | PAH | c.296G= (p.Arg99=) c.281G= (p.Arg94=) n.218G= n.392G= c.280G= n.385G= | |
| 12 | g.102894791C>G | CA6748986 | PAH | c.296G>C (p.Arg99Thr) c.281G>C (p.Arg94Thr) n.218G>C n.392G>C c.280G>C n.385G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894791C>T | CA386304037 | PAH | c.296G>A (p.Arg99Lys) c.281G>A (p.Arg94Lys) n.218G>A n.392G>A c.280G>A n.385G>A | gnomAD v4 |
| 12 | g.102894793_102894800del | CA645576936 | PAH | c.289_296del (p.Ile97AlafsTer2) c.274_281del (p.Ile92AlafsTer2) n.211_218del n.385_392del c.273_280del n.378_385del | COSMIC |
| 12 | g.102894792T>A | CA386304038 | PAH | c.295A>T (p.Arg99Trp) c.280A>T (p.Arg94Trp) n.217A>T n.391A>T c.279A>T n.384A>T | |
| 12 | g.102894792T>C | CA386304039 | PAH | c.295A>G (p.Arg99Gly) c.280A>G (p.Arg94Gly) n.217A>G n.391A>G c.279A>G n.384A>G | ClinVar dbSNP |
| 12 | g.102894792T>G | CA481333189 | PAH | c.295A>C (p.Arg99=) c.280A>C (p.Arg94=) n.217A>C n.391A>C c.279A>C n.384A>C | |
| 12 | g.102894793C>A | CA386304041 | PAH | c.294G>T (p.Leu98Phe) c.279G>T (p.Leu93Phe) n.216G>T n.390G>T c.278G>T n.383G>T | gnomAD v4 |
| 12 | g.102894793C>G | CA386304040 | PAH | c.294G>C (p.Leu98Phe) c.279G>C (p.Leu93Phe) n.216G>C n.390G>C c.278G>C n.383G>C | |
| 12 | g.102894793C>T | CA481333190 | PAH | c.294G>A (p.Leu98=) c.279G>A (p.Leu93=) n.216G>A n.390G>A c.278G>A n.383G>A | |
| 12 | g.102894794A= | CA2059466683 | PAH | c.293T= (p.Leu98=) c.278T= (p.Leu93=) n.215T= n.389T= c.277T= n.382T= | |
| 12 | g.102894794A>C | CA386304042 | PAH | c.293T>G (p.Leu98Trp) c.278T>G (p.Leu93Trp) n.215T>G n.389T>G c.277T>G n.382T>G | |
| 12 | g.102894794A>G | CA114368 | PAH | c.293T>C (p.Leu98Ser) c.278T>C (p.Leu93Ser) n.215T>C n.389T>C c.277T>C n.382T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894794A>T | CA386304043 | PAH | c.293T>A (p.Leu98Ter) c.278T>A (p.Leu93Ter) n.215T>A n.389T>A c.277T>A n.382T>A | |
| 12 | g.102894795A= | CA2059466688 | PAH | c.292T= (p.Leu98=) c.277T= (p.Leu93=) n.214T= n.388T= c.276T= n.381T= | |
| 12 | g.102894795A>C | CA16020761 | PAH | c.292T>G (p.Leu98Val) c.277T>G (p.Leu93Val) n.214T>G n.388T>G c.276T>G n.381T>G | ClinVar dbSNP |
| 12 | g.102894795A>G | CA481333192 | PAH | c.292T>C (p.Leu98=) c.277T>C (p.Leu93=) n.214T>C n.388T>C c.276T>C n.381T>C | |
| 12 | g.102894795A>T | CA386304044 | PAH | c.292T>A (p.Leu98Met) c.277T>A (p.Leu93Met) n.214T>A n.388T>A c.276T>A n.381T>A | |
| 12 | g.102894796G>A | CA481333193 | PAH | c.291C>T (p.Ile97=) c.276C>T (p.Ile92=) n.213C>T n.387C>T c.275C>T n.380C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894796G>C | CA386304045 | PAH | c.291C>G (p.Ile97Met) c.276C>G (p.Ile92Met) n.213C>G n.387C>G c.275C>G n.380C>G | |
| 12 | g.102894796G>T | CA481333194 | PAH | c.291C>A (p.Ile97=) c.276C>A (p.Ile92=) n.213C>A n.387C>A c.275C>A n.380C>A | |
| 12 | g.102894797A>C | CA386304046 | PAH | c.290T>G (p.Ile97Ser) c.275T>G (p.Ile92Ser) n.212T>G n.386T>G c.274T>G n.379T>G | |
| 12 | g.102894797A>G | CA386304047 | PAH | c.290T>C (p.Ile97Thr) c.275T>C (p.Ile92Thr) n.212T>C n.386T>C c.274T>C n.379T>C | |
| 12 | g.102894797A>T | CA386304048 | PAH | c.290T>A (p.Ile97Asn) c.275T>A (p.Ile92Asn) n.212T>A n.386T>A c.274T>A n.379T>A | gnomAD v4 |
| 12 | g.102894798T>A | CA386304049 | PAH | c.289A>T (p.Ile97Phe) c.274A>T (p.Ile92Phe) n.211A>T n.385A>T c.273A>T n.378A>T | gnomAD v4 |
| 12 | g.102894798T>C | CA386304050 | PAH | c.289A>G (p.Ile97Val) c.274A>G (p.Ile92Val) n.211A>G n.385A>G c.273A>G n.378A>G | dbSNP gnomAD v2 |
| 12 | g.102894798T>G | CA6748987 | PAH | c.289A>C (p.Ile97Leu) c.274A>C (p.Ile92Leu) n.211A>C n.385A>C c.273A>C n.378A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894798T= | CA2059466693 | PAH | c.289A= (p.Ile97=) c.274A= (p.Ile92=) n.211A= n.385A= c.273A= n.378A= | |
| 12 | g.102894799C>A | CA386304051 | PAH | c.288G>T (p.Lys96Asn) c.273G>T (p.Lys91Asn) n.210G>T n.384G>T c.272G>T n.377G>T | |
| 12 | g.102894799C>G | CA386304052 | PAH | c.288G>C (p.Lys96Asn) c.273G>C (p.Lys91Asn) n.210G>C n.384G>C c.272G>C n.377G>C | |
| 12 | g.102894799C>T | CA481333196 | PAH | c.288G>A (p.Lys96=) c.273G>A (p.Lys91=) n.210G>A n.384G>A c.272G>A n.377G>A | gnomAD v4 |
| 12 | g.102894800T>A | CA386304053 | PAH | c.287A>T (p.Lys96Met) c.272A>T (p.Lys91Met) n.209A>T n.383A>T c.271A>T n.376A>T | dbSNP |