| 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.102894783T>A | CA386304017 | PAH | c.304A>T (p.Ile102Phe) c.289A>T (p.Ile97Phe) n.226A>T n.400A>T c.288A>T n.393A>T | |
| 12 | g.102894783T>C | CA386304018 | PAH | c.304A>G (p.Ile102Val) c.289A>G (p.Ile97Val) n.226A>G n.400A>G c.288A>G n.393A>G | gnomAD v4 |
| 12 | g.102894783T>G | CA386304019 | PAH | c.304A>C (p.Ile102Leu) c.289A>C (p.Ile97Leu) n.226A>C n.400A>C c.288A>C n.393A>C | |
| 12 | g.102894784G>A | CA481333180 | PAH | c.303C>T (p.Asp101=) c.288C>T (p.Asp96=) n.225C>T n.399C>T c.287C>T n.392C>T | ClinVar dbSNP |
| 12 | g.102894784G>C | CA386304020 | PAH | c.303C>G (p.Asp101Glu) c.288C>G (p.Asp96Glu) n.225C>G n.399C>G c.287C>G n.392C>G | |
| 12 | g.102894784G= | CA2059466646 | PAH | c.303C= (p.Asp101=) c.288C= (p.Asp96=) n.225C= n.399C= c.287C= n.392C= | |
| 12 | g.102894784G>T | CA386304021 | PAH | c.303C>A (p.Asp101Glu) c.288C>A (p.Asp96Glu) n.225C>A n.399C>A c.287C>A n.392C>A | |
| 12 | g.102894785T>A | CA386304022 | PAH | c.302A>T (p.Asp101Val) c.287A>T (p.Asp96Val) n.224A>T n.398A>T c.286A>T n.391A>T | |
| 12 | g.102894785T>C | CA386304023 | PAH | c.302A>G (p.Asp101Gly) c.287A>G (p.Asp96Gly) n.224A>G n.398A>G c.286A>G n.391A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894785T>G | CA386304024 | PAH | c.302A>C (p.Asp101Ala) c.287A>C (p.Asp96Ala) n.224A>C n.398A>C c.286A>C n.391A>C | |
| 12 | g.102894785T= | CA2059466651 | PAH | c.302A= (p.Asp101=) c.287A= (p.Asp96=) n.224A= n.398A= c.286A= n.391A= | |
| 12 | g.102894786C>A | CA386304025 | PAH | c.301G>T (p.Asp101Tyr) c.286G>T (p.Asp96Tyr) n.223G>T n.397G>T c.285G>T n.390G>T | |
| 12 | g.102894786C= | CA2059466656 | PAH | c.301G= (p.Asp101=) c.286G= (p.Asp96=) n.223G= n.397G= c.285G= n.390G= | |
| 12 | g.102894786C>G | CA386304026 | PAH | c.301G>C (p.Asp101His) c.286G>C (p.Asp96His) n.223G>C n.397G>C c.285G>C n.390G>C | |
| 12 | g.102894786C>T | CA16020762 | PAH | c.301G>A (p.Asp101Asn) c.286G>A (p.Asp96Asn) n.223G>A n.397G>A c.285G>A n.390G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894787A>C | CA386304027 | PAH | c.300T>G (p.His100Gln) c.285T>G (p.His95Gln) n.222T>G n.396T>G c.284T>G n.389T>G | |
| 12 | g.102894787A>G | CA481333184 | PAH | c.300T>C (p.His100=) c.285T>C (p.His95=) n.222T>C n.396T>C c.284T>C n.389T>C | |
| 12 | g.102894787A>T | CA386304028 | PAH | c.300T>A (p.His100Gln) c.285T>A (p.His95Gln) n.222T>A n.396T>A c.284T>A n.389T>A | |
| 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 |