| 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.102852824_102852835delinsGTATACATGGGC | CA2059446119 | PAH | c.822_833delinsGCCCATGTATAC (p.Lys274=) c.807_818delinsGCCCATGTATAC (p.Lys269=) n.581_592delinsGCCCATGTATAC | |
| 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 | |
| 12 | g.102852826_102852827insG | CA2499221400 | PAH | c.830_831insC (p.Thr278TyrfsTer5) c.815_816insC (p.Thr273TyrfsTer5) n.589_590insC | ClinVar dbSNP |
| 12 | g.102852827T>A | CA386294543 | PAH | c.830A>T (p.Tyr277Phe) c.815A>T (p.Tyr272Phe) n.589A>T | |
| 12 | g.102852827T>C | CA229800 | PAH | c.830A>G (p.Tyr277Cys) c.815A>G (p.Tyr272Cys) n.589A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852827T>G | CA386294542 | PAH | c.830A>C (p.Tyr277Ser) c.815A>C (p.Tyr272Ser) n.589A>C | |
| 12 | g.102852827T= | CA2059446146 | PAH | c.830A= (p.Tyr277=) c.815A= (p.Tyr272=) n.589A= | |
| 12 | g.102852828A= | CA2059446150 | PAH | c.829T= (p.Tyr277=) c.814T= (p.Tyr272=) n.588T= | |
| 12 | g.102852828A>C | CA251534 | PAH | c.829T>G (p.Tyr277Asp) c.814T>G (p.Tyr272Asp) n.588T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852828A>G | CA386294544 | PAH | c.829T>C (p.Tyr277His) c.814T>C (p.Tyr272His) n.588T>C | gnomAD v4 |
| 12 | g.102852828A>T | CA386294545 | PAH | c.829T>A (p.Tyr277Asn) c.814T>A (p.Tyr272Asn) n.588T>A | |
| 12 | g.102852829C>A | CA229799 | PAH | c.828G>T (p.Met276Ile) c.813G>T (p.Met271Ile) n.587G>T | ClinVar dbSNP |
| 12 | g.102852829C= | CA2059446164 | PAH | c.828G= (p.Met276=) c.813G= (p.Met271=) n.587G= | |
| 12 | g.102852829C>G | CA386294546 | PAH | c.828G>C (p.Met276Ile) c.813G>C (p.Met271Ile) n.587G>C | |
| 12 | g.102852829C>T | CA386294547 | PAH | c.828G>A (p.Met276Ile) c.813G>A (p.Met271Ile) n.587G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852830A= | CA2059446174 | PAH | c.827T= (p.Met276=) c.812T= (p.Met271=) n.586T= | |
| 12 | g.102852830A>C | CA229797 | PAH | c.827T>G (p.Met276Arg) c.812T>G (p.Met271Arg) n.586T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852830A>G | CA6748837 | PAH | c.827T>C (p.Met276Thr) c.812T>C (p.Met271Thr) n.586T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852830A>T | CA229795 | PAH | c.827T>A (p.Met276Lys) c.812T>A (p.Met271Lys) n.586T>A | ClinVar dbSNP |
| 12 | g.102852831T>A | CA6748838 | PAH | c.826A>T (p.Met276Leu) c.811A>T (p.Met271Leu) n.585A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852831T>C | CA229794 | PAH | c.826A>G (p.Met276Val) c.811A>G (p.Met271Val) n.585A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852831T>G | CA386294548 | PAH | c.826A>C (p.Met276Leu) c.811A>C (p.Met271Leu) n.585A>C | |
| 12 | g.102852831T= | CA2059446187 | PAH | c.826A= (p.Met276=) c.811A= (p.Met271=) n.585A= | |
| 12 | g.102852832G>A | CA481331332 | PAH | c.825C>T (p.Pro275=) c.810C>T (p.Pro270=) n.584C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852832G>C | CA481331333 | PAH | c.825C>G (p.Pro275=) c.810C>G (p.Pro270=) n.584C>G | |
| 12 | g.102852832G= | CA2059446191 | PAH | c.825C= (p.Pro275=) c.810C= (p.Pro270=) n.584C= | |
| 12 | g.102852832G>T | CA481331334 | PAH | c.825C>A (p.Pro275=) c.810C>A (p.Pro270=) n.584C>A | |
| 12 | g.102852833_102852834dup | CA2620514696 | PAH | c.824_825dup (p.Met276ProfsTer?) c.809_810dup (p.Met271ProfsTer?) n.583_584dup | gnomAD v4 |
| 12 | g.102852833G>A | CA229793 | PAH | c.824C>T (p.Pro275Leu) c.809C>T (p.Pro270Leu) n.583C>T | ClinVar dbSNP |
| 12 | g.102852833G>C | CA229791 | PAH | c.824C>G (p.Pro275Arg) c.809C>G (p.Pro270Arg) n.583C>G | ClinVar dbSNP |
| 12 | g.102852833G= | CA2059446195 | PAH | c.824C= (p.Pro275=) c.809C= (p.Pro270=) n.583C= | |
| 12 | g.102852833G>T | CA386294549 | PAH | c.824C>A (p.Pro275His) c.809C>A (p.Pro270His) n.583C>A | |
| 12 | g.102852834G>A | CA229789 | PAH | c.823C>T (p.Pro275Ser) c.808C>T (p.Pro270Ser) n.582C>T | ClinVar dbSNP |
| 12 | g.102852834G>C | CA10602334 | PAH | c.823C>G (p.Pro275Ala) c.808C>G (p.Pro270Ala) n.582C>G | |
| 12 | g.102852834G= | CA2059446201 | PAH | c.823C= (p.Pro275=) c.808C= (p.Pro270=) n.582C= | |
| 12 | g.102852834G>T | CA386294550 | PAH | c.823C>A (p.Pro275Thr) c.808C>A (p.Pro270Thr) n.582C>A | |
| 12 | g.102852835C>A | CA386294551 | PAH | c.822G>T (p.Lys274Asn) c.807G>T (p.Lys269Asn) n.581G>T | |
| 12 | g.102852835C= | CA2059446205 | PAH | c.822G= (p.Lys274=) c.807G= (p.Lys269=) n.581G= | |
| 12 | g.102852835C>G | CA386294552 | PAH | c.822G>C (p.Lys274Asn) c.807G>C (p.Lys269Asn) n.581G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852835C>T | CA481331335 | PAH | c.822G>A (p.Lys274=) c.807G>A (p.Lys269=) n.581G>A | |
| 12 | g.102852836T>A | CA386294553 | PAH | c.821A>T (p.Lys274Met) c.806A>T (p.Lys269Met) n.580A>T | COSMIC |
| 12 | g.102852836T>C | CA386294555 | PAH | c.821A>G (p.Lys274Arg) c.806A>G (p.Lys269Arg) n.580A>G | ClinVar dbSNP |
| 12 | g.102852836T>G | CA386294554 | PAH | c.821A>C (p.Lys274Thr) c.806A>C (p.Lys269Thr) n.580A>C | gnomAD v4 |
| 12 | g.102852836T= | CA2059446213 | PAH | c.821A= (p.Lys274=) c.806A= (p.Lys269=) n.580A= | |
| 12 | g.102852837dup | CA645584083 | PAH | c.821dup (p.Pro275AlafsTer8) c.806dup (p.Pro270AlafsTer8) n.580dup | COSMIC |