Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
12 | g.102852917_102852927del | CA2620515166 | PAH | c.734_744del (p.Val245AlafsTer?) c.719_729del (p.Val240AlafsTer?) n.493_503del | gnomAD v4 |
12 | g.102852922C>A | CA481331559 | PAH | c.735G>T (p.Val245=) c.720G>T (p.Val240=) n.494G>T | dbSNP |
12 | g.102852922C= | CA2059446637 | PAH | c.735G= (p.Val245=) c.720G= (p.Val240=) n.494G= | |
12 | g.102852922C>G | CA481331560 | PAH | c.735G>C (p.Val245=) c.720G>C (p.Val240=) n.494G>C | dbSNP |
12 | g.102852922C>T | CA145982 | PAH | c.735G>A (p.Val245=) c.720G>A (p.Val240=) n.494G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.[102852922C>T;102852935del] | CA645372919 | PAH | c.[722del;735G>A] (p.Arg241ProfsTer5) c.[707del;720G>A] (p.Arg236ProfsTer5) n.[481del;494G>A] | ClinVar |
12 | g.102852922_102852923delinsCA | CA2059446641 | PAH | c.734_735delinsTG (p.Val245=) c.719_720delinsTG (p.Val240=) n.493_494delinsTG | |
12 | g.102852922_102852923delinsTG | CA312809 | PAH | c.734_735delinsCA (p.Val245Ala) c.719_720delinsCA (p.Val240Ala) n.493_494delinsCA | ClinVar dbSNP |
12 | g.102852922_102852924delinsTAG | CA2580614529 | PAH | c.733_735delinsCTA (p.Val245Leu) c.718_720delinsCTA (p.Val240Leu) n.492_494delinsCTA | ClinVar |
12 | g.102852922_102852935delinsTACAGGTCGGAGG | CA2580085703 | PAH | c.722_735delinsCCTCCGACCTGTA (p.Arg241ProfsTer5) c.707_720delinsCCTCCGACCTGTA (p.Arg236ProfsTer5) n.481_494delinsCCTCCGACCTGTA | ClinVar dbSNP |
12 | g.102852923A= | CA2059446652 | PAH | c.734T= (p.Val245=) c.719T= (p.Val240=) n.493T= | |
12 | g.102852923A>C | CA386295770 | PAH | c.734T>G (p.Val245Gly) c.719T>G (p.Val240Gly) n.493T>G | |
12 | g.102852923A>G | CA114372 | PAH | c.734T>C (p.Val245Ala) c.719T>C (p.Val240Ala) n.493T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852923A>T | CA229725 | PAH | c.734T>A (p.Val245Glu) c.719T>A (p.Val240Glu) n.493T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852924C>A | CA386295775 | PAH | c.733G>T (p.Val245Leu) c.718G>T (p.Val240Leu) n.492G>T | |
12 | g.102852924C= | CA2059446655 | PAH | c.733G= (p.Val245=) c.718G= (p.Val240=) n.492G= | |
12 | g.102852924C>G | CA229724 | PAH | c.733G>C (p.Val245Leu) c.718G>C (p.Val240Leu) n.492G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852924C>T | CA229722 | PAH | c.733G>A (p.Val245Met) c.718G>A (p.Val240Met) n.492G>A | ClinVar dbSNP |
12 | g.102852925A>C | CA481331562 | PAH | c.732T>G (p.Pro244=) c.717T>G (p.Pro239=) n.491T>G | ClinVar |
12 | g.102852925A>G | CA481331563 | PAH | c.732T>C (p.Pro244=) c.717T>C (p.Pro239=) n.491T>C | gnomAD v4 |
12 | g.102852925A>T | CA481331564 | PAH | c.732T>A (p.Pro244=) c.717T>A (p.Pro239=) n.491T>A | |
12 | g.102852926G>A | CA229721 | PAH | c.731C>T (p.Pro244Leu) c.716C>T (p.Pro239Leu) n.490C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852926G>C | CA386295782 | PAH | c.731C>G (p.Pro244Arg) c.716C>G (p.Pro239Arg) n.490C>G | |
12 | g.102852926G= | CA2059446659 | PAH | c.731C= (p.Pro244=) c.716C= (p.Pro239=) n.490C= | |
12 | g.102852926G>T | CA386295785 | PAH | c.731C>A (p.Pro244His) c.716C>A (p.Pro239His) n.490C>A | |
12 | g.102852927G>A | CA16020848 | PAH | c.730C>T (p.Pro244Ser) c.715C>T (p.Pro239Ser) n.489C>T | ClinVar dbSNP |
12 | g.102852927G>C | CA386295787 | PAH | c.730C>G (p.Pro244Ala) c.715C>G (p.Pro239Ala) n.489C>G | |
12 | g.102852927G>T | CA386295790 | PAH | c.730C>A (p.Pro244Thr) c.715C>A (p.Pro239Thr) n.489C>A | |
12 | g.102852928T>A | CA481331567 | PAH | c.729A>T (p.Arg243=) c.714A>T (p.Arg238=) n.488A>T | dbSNP |
12 | g.102852928T>C | CA481331566 | PAH | c.729A>G (p.Arg243=) c.714A>G (p.Arg238=) n.488A>G | |
12 | g.102852928T>G | CA481331565 | PAH | c.729A>C (p.Arg243=) c.714A>C (p.Arg238=) n.488A>C | |
12 | g.102852928T= | CA2059446663 | PAH | c.729A= (p.Arg243=) c.714A= (p.Arg238=) n.488A= | |
12 | g.102852929C>A | CA229719 | PAH | c.728G>T (p.Arg243Leu) c.713G>T (p.Arg238Leu) n.487G>T | ClinVar dbSNP |
12 | g.102852929C= | CA2059446670 | PAH | c.728G= (p.Arg243=) c.713G= (p.Arg238=) n.487G= | |
12 | g.102852929C>G | CA386295796 | PAH | c.728G>C (p.Arg243Pro) c.713G>C (p.Arg238Pro) n.487G>C | |
12 | g.102852929C>T | CA251531 | PAH | c.728G>A (p.Arg243Gln) c.713G>A (p.Arg238Gln) n.487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852930G>A | CA220585 | PAH | c.727C>T (p.Arg243Ter) c.712C>T (p.Arg238Ter) n.486C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102852930G>C | CA386295803 | PAH | c.727C>G (p.Arg243Gly) c.712C>G (p.Arg238Gly) n.486C>G | |
12 | g.102852930G= | CA2059446676 | PAH | c.727C= (p.Arg243=) c.712C= (p.Arg238=) n.486C= | |
12 | g.102852930G>T | CA481331568 | PAH | c.727C>A (p.Arg243=) c.712C>A (p.Arg238=) n.486C>A | |
12 | g.102852931G>A | CA481331569 | PAH | c.726C>T (p.Leu242=) c.711C>T (p.Leu237=) n.485C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102852931G>C | CA481331570 | PAH | c.726C>G (p.Leu242=) c.711C>G (p.Leu237=) n.485C>G | |
12 | g.102852931G= | CA2059446679 | PAH | c.726C= (p.Leu242=) c.711C= (p.Leu237=) n.485C= | |
12 | g.102852931G>T | CA481331571 | PAH | c.726C>A (p.Leu242=) c.711C>A (p.Leu237=) n.485C>A | |
12 | g.102852932A>C | CA386295806 | PAH | c.725T>G (p.Leu242Arg) c.710T>G (p.Leu237Arg) n.484T>G | |
12 | g.102852932A>G | CA386295808 | PAH | c.725T>C (p.Leu242Pro) c.710T>C (p.Leu237Pro) n.484T>C | |
12 | g.102852932A>T | CA386295811 | PAH | c.725T>A (p.Leu242His) c.710T>A (p.Leu237His) n.484T>A | gnomAD v4 |
12 | g.102852933G>A | CA229718 | PAH | c.724C>T (p.Leu242Phe) c.709C>T (p.Leu237Phe) n.483C>T | ClinVar dbSNP gnomAD v4 |
12 | g.102852933G>C | CA386295816 | PAH | c.724C>G (p.Leu242Val) c.709C>G (p.Leu237Val) n.483C>G |