| 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.102852811_102852819delinsTCACGGTTC | CA2059445979 | PAH | c.838_842+4delinsGAACCGTGA c.823_827+4delinsGAACCGTGA n.597_601+4delinsGAACCGTGA | |
| 12 | g.102852812_102852819del | CA229807 | PAH | c.838_842+3del c.823_827+3del n.597_601+3del | ClinVar dbSNP |
| 12 | g.102852817T>A | CA386294529 | PAH | c.840A>T (p.Glu280Asp) c.825A>T (p.Glu275Asp) n.599A>T c.1A>T | |
| 12 | g.102852817T>C | CA481331326 | PAH | c.840A>G (p.Glu280=) c.825A>G (p.Glu275=) n.599A>G c.1A>G | |
| 12 | g.102852817T>G | CA386294530 | PAH | c.840A>C (p.Glu280Asp) c.825A>C (p.Glu275Asp) n.599A>C c.1A>C | |
| 12 | g.102852817T= | CA2059446043 | PAH | c.840A= (p.Glu280=) c.825A= (p.Glu275=) n.599A= c.1A= | |
| 12 | g.102852817_102852818insA | CA229810 | PAH | c.839_840insT (p.Glu280AspfsTer3) c.824_825insT (p.Glu275AspfsTer3) n.598_599insT | ClinVar dbSNP |
| 12 | g.102852818T>A | CA386294531 | PAH | c.839A>T (p.Glu280Val) c.824A>T (p.Glu275Val) n.598A>T | |
| 12 | g.102852818T>C | CA229808 | PAH | c.839A>G (p.Glu280Gly) c.824A>G (p.Glu275Gly) n.598A>G | ClinVar dbSNP |
| 12 | g.102852818T>G | CA16020696 | PAH | c.839A>C (p.Glu280Ala) c.824A>C (p.Glu275Ala) n.598A>C | ClinVar |
| 12 | g.102852818T= | CA2059446054 | PAH | c.839A= (p.Glu280=) c.824A= (p.Glu275=) n.598A= | |
| 12 | g.102852819C>A | CA386294532 | PAH | c.838G>T (p.Glu280Ter) c.823G>T (p.Glu275Ter) n.597G>T | |
| 12 | g.102852819C= | CA2059446068 | PAH | c.838G= (p.Glu280=) c.823G= (p.Glu275=) n.597G= | |
| 12 | g.102852819C>G | CA229805 | PAH | c.838G>C (p.Glu280Gln) c.823G>C (p.Glu275Gln) n.597G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852819C>T | CA251525 | PAH | c.838G>A (p.Glu280Lys) c.823G>A (p.Glu275Lys) n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852819_102852820delinsCG | CA2059446077 | PAH | c.837_838delinsCG (p.Pro279=) c.822_823delinsCG (p.Pro274=) n.596_597delinsCG | |
| 12 | g.102852820G>A | CA6748836 | PAH | c.837C>T (p.Pro279=) c.822C>T (p.Pro274=) n.596C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852820G>C | CA481331327 | PAH | c.837C>G (p.Pro279=) c.822C>G (p.Pro274=) n.596C>G | gnomAD v4 |
| 12 | g.102852820G= | CA2059446090 | PAH | c.837C= (p.Pro279=) c.822C= (p.Pro274=) n.596C= | |
| 12 | g.102852820G>T | CA481331328 | PAH | c.837C>A (p.Pro279=) c.822C>A (p.Pro274=) n.596C>A | |
| 12 | g.102852820_102852821delinsAA | CA645584082 | PAH | c.836_837delinsTT (p.Pro279Leu) c.821_822delinsTT (p.Pro274Leu) n.595_596delinsTT | COSMIC |
| 12 | g.102852824dup | CA2580085691 | PAH | c.837dup (p.Glu280ArgfsTer3) c.822dup (p.Glu275ArgfsTer3) n.596dup | ClinVar |
| 12 | g.102852824del | CA267677 | PAH | c.837del (p.Glu280AsnfsTer?) c.822del (p.Glu275AsnfsTer?) n.596del | ClinVar dbSNP |
| 12 | g.102852821G>A | CA275939 | PAH | c.836C>T (p.Pro279Leu) c.821C>T (p.Pro274Leu) n.595C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852821G>C | CA386294534 | PAH | c.836C>G (p.Pro279Arg) c.821C>G (p.Pro274Arg) n.595C>G | |
| 12 | g.102852821G= | CA2059446099 | PAH | c.836C= (p.Pro279=) c.821C= (p.Pro274=) n.595C= | |
| 12 | g.102852821G>T | CA386294533 | PAH | c.836C>A (p.Pro279His) c.821C>A (p.Pro274His) n.595C>A | |
| 12 | g.102852821_102852822delinsCA | CA645372267 | PAH | c.835_836delinsTG (p.Pro279Cys) c.820_821delinsTG (p.Pro274Cys) n.594_595delinsTG | ClinVar dbSNP |
| 12 | g.102852822G>A | CA386294535 | PAH | c.835C>T (p.Pro279Ser) c.820C>T (p.Pro274Ser) n.594C>T | |
| 12 | g.102852822G>C | CA386294536 | PAH | c.835C>G (p.Pro279Ala) c.820C>G (p.Pro274Ala) n.594C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852822G= | CA2059446103 | PAH | c.835C= (p.Pro279=) c.820C= (p.Pro274=) n.594C= | |
| 12 | g.102852822G>T | CA386294537 | PAH | c.835C>A (p.Pro279Thr) c.820C>A (p.Pro274Thr) n.594C>A | ClinVar gnomAD v4 |
| 12 | g.102852823G>A | CA481331331 | PAH | c.834C>T (p.Thr278=) c.819C>T (p.Thr273=) n.593C>T | gnomAD v4 |
| 12 | g.102852823G>C | CA481331329 | PAH | c.834C>G (p.Thr278=) c.819C>G (p.Thr273=) n.593C>G | |
| 12 | g.102852823G>T | CA481331330 | PAH | c.834C>A (p.Thr278=) c.819C>A (p.Thr273=) n.593C>A | |
| 12 | g.102852824G>A | CA229803 | PAH | c.833C>T (p.Thr278Ile) c.818C>T (p.Thr273Ile) n.592C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852824G>C | CA16020867 | PAH | c.833C>G (p.Thr278Ser) c.818C>G (p.Thr273Ser) n.592C>G | ClinVar dbSNP |
| 12 | g.102852824G= | CA2059446110 | PAH | c.833C= (p.Thr278=) c.818C= (p.Thr273=) n.592C= | |
| 12 | g.102852824G>T | CA229802 | PAH | c.833C>A (p.Thr278Asn) c.818C>A (p.Thr273Asn) n.592C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852824_102852835delinsGTATACATGGGC | CA2059446119 | PAH | c.822_833delinsGCCCATGTATAC (p.Lys274=) c.807_818delinsGCCCATGTATAC (p.Lys269=) n.581_592delinsGCCCATGTATAC | |
| 12 | g.102852825T>A | CA386294538 | PAH | c.832A>T (p.Thr278Ser) c.817A>T (p.Thr273Ser) n.591A>T | |
| 12 | g.102852825T>C | CA229801 | PAH | c.832A>G (p.Thr278Ala) c.817A>G (p.Thr273Ala) n.591A>G | ClinVar dbSNP |
| 12 | g.102852825T>G | CA386294539 | PAH | c.832A>C (p.Thr278Pro) c.817A>C (p.Thr273Pro) n.591A>C | dbSNP |
| 12 | g.102852825T= | CA2059446129 | PAH | c.832A= (p.Thr278=) c.817A= (p.Thr273=) n.591A= | |
| 12 | g.102852826_102852836del | CA229788 | PAH | c.822_832del (p.Lys274AsnfsTer5) c.807_817del (p.Lys269AsnfsTer5) n.581_591del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852826A= | CA2059446140 | PAH | c.831T= (p.Tyr277=) c.816T= (p.Tyr272=) n.590T= | |
| 12 | g.102852826A>C | CA386294540 | PAH | c.831T>G (p.Tyr277Ter) c.816T>G (p.Tyr272Ter) n.590T>G | |
| 12 | g.102852826A>G | CA242471595 | PAH | c.831T>C (p.Tyr277=) c.816T>C (p.Tyr272=) n.590T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852826A>T | CA386294541 | PAH | c.831T>A (p.Tyr277Ter) c.816T>A (p.Tyr272Ter) n.590T>A |