UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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 |
| 12 | g.102852837T>A | CA386294556 | PAH | c.820A>T (p.Lys274Ter) c.805A>T (p.Lys269Ter) n.579A>T | |
| 12 | g.102852837T>C | CA229786 | PAH | c.820A>G (p.Lys274Glu) c.805A>G (p.Lys269Glu) n.579A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852837T>G | CA386294557 | PAH | c.820A>C (p.Lys274Gln) c.805A>C (p.Lys269Gln) n.579A>C | |
| 12 | g.102852837T= | CA2059446216 | PAH | c.820A= (p.Lys274=) c.805A= (p.Lys269=) n.579A= | |
| 12 | g.102852839_102852850del | CA2697551513 | PAH | c.809_820del (p.Arg270_Ser273del) c.794_805del (p.Arg265_Ser268del) n.568_579del | ClinVar |
| 12 | g.102852838G>A | CA481331338 | PAH | c.819C>T (p.Ser273=) c.804C>T (p.Ser268=) n.578C>T | gnomAD v4 |
| 12 | g.102852838G>C | CA481331337 | PAH | c.819C>G (p.Ser273=) c.804C>G (p.Ser268=) n.578C>G | |
| 12 | g.102852838G>T | CA481331336 | PAH | c.819C>A (p.Ser273=) c.804C>A (p.Ser268=) n.578C>A | |
| 12 | g.102852839G>A | CA229785 | PAH | c.818C>T (p.Ser273Phe) c.803C>T (p.Ser268Phe) n.577C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852839G>C | CA386294558 | PAH | c.818C>G (p.Ser273Cys) c.803C>G (p.Ser268Cys) n.577C>G | |
| 12 | g.102852839G= | CA2059446220 | PAH | c.818C= (p.Ser273=) c.803C= (p.Ser268=) n.577C= | |
| 12 | g.102852839G>T | CA386294559 | PAH | c.818C>A (p.Ser273Tyr) c.803C>A (p.Ser268Tyr) n.577C>A | |
| 12 | g.102852840A= | CA2059446226 | PAH | c.817T= (p.Ser273=) c.802T= (p.Ser268=) n.576T= | |
| 12 | g.102852840A>C | CA386294560 | PAH | c.817T>G (p.Ser273Ala) c.802T>G (p.Ser268Ala) n.576T>G | |
| 12 | g.102852840A>G | CA16020866 | PAH | c.817T>C (p.Ser273Pro) c.802T>C (p.Ser268Pro) n.576T>C | ClinVar dbSNP |
| 12 | g.102852840A>T | CA386294561 | PAH | c.817T>A (p.Ser273Thr) c.802T>A (p.Ser268Thr) n.576T>A | gnomAD v4 |
| 12 | g.102852841T>A | CA481331339 | PAH | c.816A>T (p.Gly272=) c.801A>T (p.Gly267=) n.575A>T | gnomAD v4 |
| 12 | g.102852841T>C | CA481331340 | PAH | c.816A>G (p.Gly272=) c.801A>G (p.Gly267=) n.575A>G | ClinVar gnomAD v4 |
| 12 | g.102852841T>G | CA481331341 | PAH | c.816A>C (p.Gly272=) c.801A>C (p.Gly267=) n.575A>C | |
| 12 | g.102852842C>A | CA386294562 | PAH | c.815G>T (p.Gly272Val) c.800G>T (p.Gly267Val) n.574G>T | |
| 12 | g.102852842C>G | CA386294563 | PAH | c.815G>C (p.Gly272Ala) c.800G>C (p.Gly267Ala) n.574G>C | |
| 12 | g.102852842C>T | CA386294564 | PAH | c.815G>A (p.Gly272Glu) c.800G>A (p.Gly267Glu) n.574G>A | COSMIC |
| 12 | g.102852842_102852847delinsCCATGT | CA2059446231 | PAH | c.810_815delinsACATGG (p.Arg270=) c.795_800delinsACATGG (p.Arg265=) n.569_574delinsACATGG | |
| 12 | g.102852843C>A | CA251532 | PAH | c.814G>T (p.Gly272Ter) c.799G>T (p.Gly267Ter) n.573G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852843C= | CA2059446239 | PAH | c.814G= (p.Gly272=) c.799G= (p.Gly267=) n.573G= | |
| 12 | g.102852843C>G | CA386294566 | PAH | c.814G>C (p.Gly272Arg) c.799G>C (p.Gly267Arg) n.573G>C | |
| 12 | g.102852843C>T | CA386294565 | PAH | c.814G>A (p.Gly272Arg) c.799G>A (p.Gly267Arg) n.573G>A | |
| 12 | g.102852844_102852848del | CA229783 | PAH | c.810_814del (p.His271IlefsTer10) c.795_799del (p.His266IlefsTer10) n.569_573del | ClinVar dbSNP |
| 12 | g.102852844A= | CA2059446251 | PAH | c.813T= (p.His271=) c.798T= (p.His266=) n.572T= | |
| 12 | g.102852844A>C | CA16020865 | PAH | c.813T>G (p.His271Gln) c.798T>G (p.His266Gln) n.572T>G | ClinVar dbSNP |
| 12 | g.102852844A>G | CA481331342 | PAH | c.813T>C (p.His271=) c.798T>C (p.His266=) n.572T>C | |
| 12 | g.102852844A>T | CA386294567 | PAH | c.813T>A (p.His271Gln) c.798T>A (p.His266Gln) n.572T>A | |
| 12 | g.102852845T>A | CA267675 | PAH | c.812A>T (p.His271Leu) c.797A>T (p.His266Leu) n.571A>T | ClinVar dbSNP |
| 12 | g.102852845T>C | CA286508 | PAH | c.812A>G (p.His271Arg) c.797A>G (p.His266Arg) n.571A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852845T>G | CA386294568 | PAH | c.812A>C (p.His271Pro) c.797A>C (p.His266Pro) n.571A>C | |
| 12 | g.102852845T= | CA2059446256 | PAH | c.812A= (p.His271=) c.797A= (p.His266=) n.571A= | |
| 12 | g.102852846G>A | CA229784 | PAH | c.811C>T (p.His271Tyr) c.796C>T (p.His266Tyr) n.570C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.102852846G>C | CA386294569 | PAH | c.811C>G (p.His271Asp) c.796C>G (p.His266Asp) n.570C>G | |
| 12 | g.102852846G= | CA2059446267 | PAH | c.811C= (p.His271=) c.796C= (p.His266=) n.570C= | |
| 12 | g.102852846G>T | CA386294570 | PAH | c.811C>A (p.His271Asn) c.796C>A (p.His266Asn) n.570C>A | ClinVar |
| 12 | g.102852847T>A | CA229782 | PAH | c.810A>T (p.Arg270Ser) c.795A>T (p.Arg265Ser) n.569A>T | ClinVar dbSNP |
| 12 | g.102852847T>C | CA481331343 | PAH | c.810A>G (p.Arg270=) c.795A>G (p.Arg265=) n.569A>G | |
| 12 | g.102852847T>G | CA386294571 | PAH | c.810A>C (p.Arg270Ser) c.795A>C (p.Arg265Ser) n.569A>C | |
| 12 | g.102852847T= | CA2059446273 | PAH | c.810A= (p.Arg270=) c.795A= (p.Arg265=) n.569A= | |
| 12 | g.102852848C>A | CA16020864 | PAH | c.809G>T (p.Arg270Ile) c.794G>T (p.Arg265Ile) n.568G>T | |
| 12 | g.102852848C= | CA2059446280 | PAH | c.809G= (p.Arg270=) c.794G= (p.Arg265=) n.568G= | |
| 12 | g.102852848C>G | CA386295222 | PAH | c.809G>C (p.Arg270Thr) c.794G>C (p.Arg265Thr) n.568G>C | |
| 12 | g.102852848C>T | CA229781 | PAH | c.809G>A (p.Arg270Lys) c.794G>A (p.Arg265Lys) n.568G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852849T>A | CA386295229 | PAH | c.808A>T (p.Arg270Ter) c.793A>T (p.Arg265Ter) n.567A>T | |
| 12 | g.102852849T>C | CA229779 | PAH | c.808A>G (p.Arg270Gly) c.793A>G (p.Arg265Gly) n.567A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852849T>G | CA481331447 | PAH | c.808A>C (p.Arg270=) c.793A>C (p.Arg265=) n.567A>C | |
| 12 | g.102852849T= | CA2059446287 | PAH | c.808A= (p.Arg270=) c.793A= (p.Arg265=) n.567A= | |
| 12 | g.102852850G>A | CA481331448 | PAH | c.807C>T (p.Ile269=) c.792C>T (p.Ile264=) n.566C>T | |
| 12 | g.102852850G>C | CA386295235 | PAH | c.807C>G (p.Ile269Met) c.792C>G (p.Ile264Met) n.566C>G | gnomAD v4 |
| 12 | g.102852850G>T | CA481331449 | PAH | c.807C>A (p.Ile269=) c.792C>A (p.Ile264=) n.566C>A | ClinVar |
| 12 | g.102852850_102852851delinsGA | CA2059446293 | PAH | c.806_807delinsTC (p.Ile269=) c.791_792delinsTC (p.Ile264=) n.565_566delinsTC | |
| 12 | g.102852851del | CA229778 | PAH | c.806del (p.Ile269ThrfsTer?) c.791del (p.Ile264ThrfsTer?) n.565del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852851A= | CA2059446302 | PAH | c.806T= (p.Ile269=) c.791T= (p.Ile264=) n.565T= | |
| 12 | g.102852851A>C | CA386295241 | PAH | c.806T>G (p.Ile269Ser) c.791T>G (p.Ile264Ser) n.565T>G | |
| 12 | g.102852851A>G | CA386295244 | PAH | c.806T>C (p.Ile269Thr) c.791T>C (p.Ile264Thr) n.565T>C | |
| 12 | g.102852851A>T | CA229776 | PAH | c.806T>A (p.Ile269Asn) c.791T>A (p.Ile264Asn) n.565T>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852852T>A | CA386295253 | PAH | c.805A>T (p.Ile269Phe) c.790A>T (p.Ile264Phe) n.564A>T | |
| 12 | g.102852852T>C | CA6748839 | PAH | c.805A>G (p.Ile269Val) c.790A>G (p.Ile264Val) n.564A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852852T>G | CA229775 | PAH | c.805A>C (p.Ile269Leu) c.790A>C (p.Ile264Leu) n.564A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852852T= | CA2059446311 | PAH | c.805A= (p.Ile269=) c.790A= (p.Ile264=) n.564A= | |
| 12 | g.102852853G>A | CA6748840 | PAH | c.804C>T (p.Tyr268=) c.789C>T (p.Tyr263=) n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852853G>C | CA386295268 | PAH | c.804C>G (p.Tyr268Ter) c.789C>G (p.Tyr263Ter) n.563C>G | |
| 12 | g.102852853G= | CA2059446317 | PAH | c.804C= (p.Tyr268=) c.789C= (p.Tyr263=) n.563C= | |
| 12 | g.102852853G>T | CA386295265 | PAH | c.804C>A (p.Tyr268Ter) c.789C>A (p.Tyr263Ter) n.563C>A | ClinVar dbSNP |
| 12 | g.102852854T>A | CA386295273 | PAH | c.803A>T (p.Tyr268Phe) c.788A>T (p.Tyr263Phe) n.562A>T | |
| 12 | g.102852854T>C | CA16020863 | PAH | c.803A>G (p.Tyr268Cys) c.788A>G (p.Tyr263Cys) n.562A>G | ClinVar dbSNP |
| 12 | g.102852854T>G | CA386295276 | PAH | c.803A>C (p.Tyr268Ser) c.788A>C (p.Tyr263Ser) n.562A>C | |
| 12 | g.102852854T= | CA2059446325 | PAH | c.803A= (p.Tyr268=) c.788A= (p.Tyr263=) n.562A= | |
| 12 | g.102852855A= | CA2059446335 | PAH | c.802T= (p.Tyr268=) c.787T= (p.Tyr263=) n.561T= | |
| 12 | g.102852855A>C | CA386295281 | PAH | c.802T>G (p.Tyr268Asp) c.787T>G (p.Tyr263Asp) n.561T>G | |
| 12 | g.102852855A>G | CA229773 | PAH | c.802T>C (p.Tyr268His) c.787T>C (p.Tyr263His) n.561T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852855A>T | CA386295285 | PAH | c.802T>A (p.Tyr268Asn) c.787T>A (p.Tyr263Asn) n.561T>A | |
| 12 | g.102852855_102852856delinsAC | CA2059446333 | PAH | c.801_802delinsGT (p.Gln267=) c.786_787delinsGT (p.Gln262=) n.560_561delinsGT | |
| 12 | g.102852856del | CA1139660757 | PAH | c.801del (p.Gln267HisfsTer?) c.786del (p.Gln262HisfsTer?) n.560del | ClinVar dbSNP |
| 12 | g.102852856C>A | CA6748841 | PAH | c.801G>T (p.Gln267His) c.786G>T (p.Gln262His) n.560G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852856C= | CA2059446343 | PAH | c.801G= (p.Gln267=) c.786G= (p.Gln262=) n.560G= | |
| 12 | g.102852856C>G | CA229771 | PAH | c.801G>C (p.Gln267His) c.786G>C (p.Gln262His) n.560G>C | ClinVar dbSNP |
| 12 | g.102852856C>T | CA481331455 | PAH | c.801G>A (p.Gln267=) c.786G>A (p.Gln262=) n.560G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.102852857T>A | CA354145 | PAH | c.800A>T (p.Gln267Leu) c.785A>T (p.Gln262Leu) n.559A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852857T>C | CA16020862 | PAH | c.800A>G (p.Gln267Arg) c.785A>G (p.Gln262Arg) n.559A>G | ClinVar dbSNP |
| 12 | g.102852857T>G | CA386295300 | PAH | c.800A>C (p.Gln267Pro) c.785A>C (p.Gln262Pro) n.559A>C | |
| 12 | g.102852857T= | CA2059446354 | PAH | c.800A= (p.Gln267=) c.785A= (p.Gln262=) n.559A= | |
| 12 | g.102852858G>A | CA16020861 | PAH | c.799C>T (p.Gln267Ter) c.784C>T (p.Gln262Ter) n.558C>T | ClinVar dbSNP COSMIC |
| 12 | g.102852858G>C | CA229769 | PAH | c.799C>G (p.Gln267Glu) c.784C>G (p.Gln262Glu) n.558C>G | ClinVar dbSNP |
| 12 | g.102852858G= | CA2059446362 | PAH | c.799C= (p.Gln267=) c.784C= (p.Gln262=) n.558C= | |
| 12 | g.102852858G>T | CA386295303 | PAH | c.799C>A (p.Gln267Lys) c.784C>A (p.Gln262Lys) n.558C>A | |
| 12 | g.102852859T>A | CA481331458 | PAH | c.798A>T (p.Thr266=) c.783A>T (p.Thr261=) n.557A>T | |
| 12 | g.102852859T>C | CA481331459 | PAH | c.798A>G (p.Thr266=) c.783A>G (p.Thr261=) n.557A>G | |
| 12 | g.102852859T>G | CA481331460 | PAH | c.798A>C (p.Thr266=) c.783A>C (p.Thr261=) n.557A>C | |
| 12 | g.102852860G>A | CA386295316 | PAH | c.797C>T (p.Thr266Ile) c.782C>T (p.Thr261Ile) n.556C>T | ClinVar |
| 12 | g.102852860G>C | CA386295311 | PAH | c.797C>G (p.Thr266Arg) c.782C>G (p.Thr261Arg) n.556C>G | |
| 12 | g.102852860G= | CA2059446371 | PAH | c.797C= (p.Thr266=) c.782C= (p.Thr261=) n.556C= | |
| 12 | g.102852860G>T | CA229767 | PAH | c.797C>A (p.Thr266Lys) c.782C>A (p.Thr261Lys) n.556C>A | ClinVar dbSNP |
| 12 | g.102852860_102852861delinsTC | CA16020860 | PAH | c.796_797delinsGA (p.Thr266Glu) c.781_782delinsGA (p.Thr261Glu) n.555_556delinsGA | |
| 12 | g.102852861T>A | CA386295320 | PAH | c.796A>T (p.Thr266Ser) c.781A>T (p.Thr261Ser) n.555A>T | |
| 12 | g.102852861T>C | CA229765 | PAH | c.796A>G (p.Thr266Ala) c.781A>G (p.Thr261Ala) n.555A>G | ClinVar dbSNP |
| 12 | g.102852861T>G | CA267673 | PAH | c.796A>C (p.Thr266Pro) c.781A>C (p.Thr261Pro) n.555A>C | ClinVar dbSNP |
| 12 | g.102852861T= | CA2059446380 | PAH | c.796A= (p.Thr266=) c.781A= (p.Thr261=) n.555A= | |
| 12 | g.102852862G>A | CA481331464 | PAH | c.795C>T (p.Cys265=) c.780C>T (p.Cys260=) n.554C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852862G>C | CA386295328 | PAH | c.795C>G (p.Cys265Trp) c.780C>G (p.Cys260Trp) n.554C>G | |
| 12 | g.102852862G= | CA2059446389 | PAH | c.795C= (p.Cys265=) c.780C= (p.Cys260=) n.554C= | |
| 12 | g.102852862G>T | CA16020859 | PAH | c.795C>A (p.Cys265Ter) c.780C>A (p.Cys260Ter) n.554C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852863C>A | CA386295335 | PAH | c.794G>T (p.Cys265Phe) c.779G>T (p.Cys260Phe) n.553G>T | COSMIC |
| 12 | g.102852863C= | CA2059446393 | PAH | c.794G= (p.Cys265=) c.779G= (p.Cys260=) n.553G= | |
| 12 | g.102852863C>G | CA386295338 | PAH | c.794G>C (p.Cys265Ser) c.779G>C (p.Cys260Ser) n.553G>C | |
| 12 | g.102852863C>T | CA229763 | PAH | c.794G>A (p.Cys265Tyr) c.779G>A (p.Cys260Tyr) n.553G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852864A= | CA2059446398 | PAH | c.793T= (p.Cys265=) c.778T= (p.Cys260=) n.552T= | |
| 12 | g.102852864A>C | CA229762 | PAH | c.793T>G (p.Cys265Gly) c.778T>G (p.Cys260Gly) n.552T>G | ClinVar dbSNP |
| 12 | g.102852864A>G | CA16020858 | PAH | c.793T>C (p.Cys265Arg) c.778T>C (p.Cys260Arg) n.552T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852864A>T | CA386295349 | PAH | c.793T>A (p.Cys265Ser) c.778T>A (p.Cys260Ser) n.552T>A | |
| 12 | g.102852865del | CA2695199166 | PAH | c.792del (p.Cys265AlafsTer?) c.777del (p.Cys260AlafsTer?) n.551del | ClinVar |
| 12 | g.102852865G>A | CA242471830 | PAH | c.792C>T (p.His264=) c.777C>T (p.His259=) n.551C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852865G>C | CA386295358 | PAH | c.792C>G (p.His264Gln) c.777C>G (p.His259Gln) n.551C>G | gnomAD v4 |
| 12 | g.102852865G= | CA2059446403 | PAH | c.792C= (p.His264=) c.777C= (p.His259=) n.551C= | |
| 12 | g.102852865G>T | CA386295354 | PAH | c.792C>A (p.His264Gln) c.777C>A (p.His259Gln) n.551C>A | gnomAD v4 |
| 12 | g.102852866T>A | CA229761 | PAH | c.791A>T (p.His264Leu) c.776A>T (p.His259Leu) n.550A>T | ClinVar dbSNP |
| 12 | g.102852866T>C | CA386295372 | PAH | c.791A>G (p.His264Arg) c.776A>G (p.His259Arg) n.550A>G | ClinVar dbSNP |
| 12 | g.102852866T>G | CA386295376 | PAH | c.791A>C (p.His264Pro) c.776A>C (p.His259Pro) n.550A>C | |
| 12 | g.102852866T= | CA2059446410 | PAH | c.791A= (p.His264=) c.776A= (p.His259=) n.550A= | |
| 12 | g.102852866_102852867delinsTG | CA2059446406 | PAH | c.790_791delinsCA (p.His264=) c.775_776delinsCA (p.His259=) n.549_550delinsCA | |
| 12 | g.102852867G>A | CA6748842 | PAH | c.790C>T (p.His264Tyr) c.775C>T (p.His259Tyr) n.549C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852867G>C | CA386295383 | PAH | c.790C>G (p.His264Asp) c.775C>G (p.His259Asp) n.549C>G | |
| 12 | g.102852867G= | CA2059446412 | PAH | c.790C= (p.His264=) c.775C= (p.His259=) n.549C= | |
| 12 | g.102852867G>T | CA386295386 | PAH | c.790C>A (p.His264Asn) c.775C>A (p.His259Asn) n.549C>A | |
| 12 | g.102852868del | CA16041559 | PAH | c.790del (p.His264ThrfsTer?) c.775del (p.His259ThrfsTer?) n.549del | ClinVar dbSNP |
| 12 | g.102852868G>A | CA481331472 | PAH | c.789C>T (p.Phe263=) c.774C>T (p.Phe258=) n.548C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852868G>C | CA229760 | PAH | c.789C>G (p.Phe263Leu) c.774C>G (p.Phe258Leu) n.548C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852868G= | CA2059446416 | PAH | c.789C= (p.Phe263=) c.774C= (p.Phe258=) n.548C= | |
| 12 | g.102852868G>T | CA386295393 | PAH | c.789C>A (p.Phe263Leu) c.774C>A (p.Phe258Leu) n.548C>A | ClinVar dbSNP |
| 12 | g.102852869A= | CA2059446426 | PAH | c.788T= (p.Phe263=) c.773T= (p.Phe258=) n.547T= | |
| 12 | g.102852869A>C | CA386295396 | PAH | c.788T>G (p.Phe263Cys) c.773T>G (p.Phe258Cys) n.547T>G | |
| 12 | g.102852869A>G | CA16020857 | PAH | c.788T>C (p.Phe263Ser) c.773T>C (p.Phe258Ser) n.547T>C | ClinVar dbSNP |
| 12 | g.102852869A>T | CA386295401 | PAH | c.788T>A (p.Phe263Tyr) c.773T>A (p.Phe258Tyr) n.547T>A | |
| 12 | g.102852870A>C | CA386295411 | PAH | c.787T>G (p.Phe263Val) c.772T>G (p.Phe258Val) n.546T>G | |
| 12 | g.102852870A>G | CA386295406 | PAH | c.787T>C (p.Phe263Leu) c.772T>C (p.Phe258Leu) n.546T>C | |
| 12 | g.102852870A>T | CA386295404 | PAH | c.787T>A (p.Phe263Ile) c.772T>A (p.Phe258Ile) n.546T>A | |
| 12 | g.102852871G>A | CA242471869 | PAH | c.786C>T (p.Val262=) c.771C>T (p.Val257=) n.545C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852871G>C | CA481331475 | PAH | c.786C>G (p.Val262=) c.771C>G (p.Val257=) n.545C>G | |
| 12 | g.102852871G= | CA2059446431 | PAH | c.786C= (p.Val262=) c.771C= (p.Val257=) n.545C= | |
| 12 | g.102852871G>T | CA481331474 | PAH | c.786C>A (p.Val262=) c.771C>A (p.Val257=) n.545C>A | |
| 12 | g.102852872A= | CA2059446437 | PAH | c.785T= (p.Val262=) c.770T= (p.Val257=) n.544T= | |
| 12 | g.102852872A>C | CA267671 | PAH | c.785T>G (p.Val262Gly) c.770T>G (p.Val257Gly) n.544T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852872A>G | CA386295423 | PAH | c.785T>C (p.Val262Ala) c.770T>C (p.Val257Ala) n.544T>C | |
| 12 | g.102852872A>T | CA386295428 | PAH | c.785T>A (p.Val262Asp) c.770T>A (p.Val257Asp) n.544T>A | |
| 12 | g.102852873C>A | CA386295432 | PAH | c.784G>T (p.Val262Phe) c.769G>T (p.Val257Phe) n.543G>T | |
| 12 | g.102852873C>G | CA386295436 | PAH | c.784G>C (p.Val262Leu) c.769G>C (p.Val257Leu) n.543G>C | |
| 12 | g.102852873C>T | CA386295439 | PAH | c.784G>A (p.Val262Ile) c.769G>A (p.Val257Ile) n.543G>A | |
| 12 | g.102852874T>A | CA481331477 | PAH | c.783A>T (p.Arg261=) c.768A>T (p.Arg256=) n.542A>T | |
| 12 | g.102852874T>C | CA481331478 | PAH | c.783A>G (p.Arg261=) c.768A>G (p.Arg256=) n.542A>G | ClinVar dbSNP |
| 12 | g.102852874T>G | CA481331481 | PAH | c.783A>C (p.Arg261=) c.768A>C (p.Arg256=) n.542A>C | |
| 12 | g.102852875C>A | CA386295444 | PAH | c.782G>T (p.Arg261Leu) c.767G>T (p.Arg256Leu) n.541G>T | ClinVar dbSNP |
| 12 | g.102852875C= | CA2059446444 | PAH | c.782G= (p.Arg261=) c.767G= (p.Arg256=) n.541G= | |
| 12 | g.102852875C>G | CA229759 | PAH | c.782G>C (p.Arg261Pro) c.767G>C (p.Arg256Pro) n.541G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852875C>T | CA251528 | PAH | c.782G>A (p.Arg261Gln) c.767G>A (p.Arg256Gln) n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852875_102852876delinsGA | CA2695217155 | PAH | c.781_782delinsTC (p.Arg261Ser) c.766_767delinsTC (p.Arg256Ser) n.540_541delinsTC | |
| 12 | g.102852876G>A | CA229757 | PAH | c.781C>T (p.Arg261Ter) c.766C>T (p.Arg256Ter) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852876G>C | CA269921 | PAH | c.781C>G (p.Arg261Gly) c.766C>G (p.Arg256Gly) n.540C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852876G= | CA2059446456 | PAH | c.781C= (p.Arg261=) c.766C= (p.Arg256=) n.540C= | |
| 12 | g.102852876G>T | CA481331483 | PAH | c.781C>A (p.Arg261=) c.766C>A (p.Arg256=) n.540C>A | |
| 12 | g.102852877G>A | CA481331484 | PAH | c.780C>T (p.Phe260=) c.765C>T (p.Phe255=) n.539C>T | |
| 12 | g.102852877G>C | CA386295463 | PAH | c.780C>G (p.Phe260Leu) c.765C>G (p.Phe255Leu) n.539C>G | ClinVar |
| 12 | g.102852877G>T | CA386295468 | PAH | c.780C>A (p.Phe260Leu) c.765C>A (p.Phe255Leu) n.539C>A | |
| 12 | g.102852878A>C | CA386295474 | PAH | c.779T>G (p.Phe260Cys) c.764T>G (p.Phe255Cys) n.538T>G | |
| 12 | g.102852878A>G | CA386295480 | PAH | c.779T>C (p.Phe260Ser) c.764T>C (p.Phe255Ser) n.538T>C | |
| 12 | g.102852878A>T | CA386295477 | PAH | c.779T>A (p.Phe260Tyr) c.764T>A (p.Phe255Tyr) n.538T>A | |
| 12 | g.102852879A>C | CA386295487 | PAH | c.778T>G (p.Phe260Val) c.763T>G (p.Phe255Val) n.537T>G | |
| 12 | g.102852879A>G | CA386295490 | PAH | c.778T>C (p.Phe260Leu) c.763T>C (p.Phe255Leu) n.537T>C | |
| 12 | g.102852879A>T | CA16020856 | PAH | c.778T>A (p.Phe260Ile) c.763T>A (p.Phe255Ile) n.537T>A | |
| 12 | g.102852880G>A | CA481331490 | PAH | c.777C>T (p.Ala259=) c.762C>T (p.Ala254=) n.536C>T | gnomAD v4 COSMIC |
| 12 | g.102852880G>C | CA481331489 | PAH | c.777C>G (p.Ala259=) c.762C>G (p.Ala254=) n.536C>G | |
| 12 | g.102852880G>T | CA481331488 | PAH | c.777C>A (p.Ala259=) c.762C>A (p.Ala254=) n.536C>A | |
| 12 | g.102852881G>A | CA229756 | PAH | c.776C>T (p.Ala259Val) c.761C>T (p.Ala254Val) n.535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852881G>C | CA386295500 | PAH | c.776C>G (p.Ala259Gly) c.761C>G (p.Ala254Gly) n.535C>G | ClinVar |
| 12 | g.102852881G= | CA2059446459 | PAH | c.776C= (p.Ala259=) c.761C= (p.Ala254=) n.535C= | |
| 12 | g.102852881G>T | CA386295503 | PAH | c.776C>A (p.Ala259Asp) c.761C>A (p.Ala254Asp) n.535C>A | |
| 12 | g.102852882C>A | CA386295507 | PAH | c.775G>T (p.Ala259Ser) c.760G>T (p.Ala254Ser) n.534G>T | |
| 12 | g.102852882C= | CA2059446464 | PAH | c.775G= (p.Ala259=) c.760G= (p.Ala254=) n.534G= | |
| 12 | g.102852882C>G | CA386295510 | PAH | c.775G>C (p.Ala259Pro) c.760G>C (p.Ala254Pro) n.534G>C | |
| 12 | g.102852882C>T | CA229755 | PAH | c.775G>A (p.Ala259Thr) c.760G>A (p.Ala254Thr) n.534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852883C>A | CA481331495 | PAH | c.774G>T (p.Leu258=) c.759G>T (p.Leu253=) n.533G>T | ClinVar dbSNP |
| 12 | g.102852883C>G | CA481331497 | PAH | c.774G>C (p.Leu258=) c.759G>C (p.Leu253=) n.533G>C | |
| 12 | g.102852883C>T | CA481331499 | PAH | c.774G>A (p.Leu258=) c.759G>A (p.Leu253=) n.533G>A | ClinVar dbSNP |
| 12 | g.102852884A= | CA2059446471 | PAH | c.773T= (p.Leu258=) c.758T= (p.Leu253=) n.532T= | |
| 12 | g.102852884A>C | CA386295520 | PAH | c.773T>G (p.Leu258Arg) c.758T>G (p.Leu253Arg) n.532T>G | |
| 12 | g.102852884A>G | CA16020855 | PAH | c.773T>C (p.Leu258Pro) c.758T>C (p.Leu253Pro) n.532T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852884A>T | CA386295526 | PAH | c.773T>A (p.Leu258Gln) c.758T>A (p.Leu253Gln) n.532T>A | |
| 12 | g.102852885G>A | CA6748843 | PAH | c.772C>T (p.Leu258=) c.757C>T (p.Leu253=) n.531C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852885G>C | CA386295543 | PAH | c.772C>G (p.Leu258Val) c.757C>G (p.Leu253Val) n.531C>G | |
| 12 | g.102852885G= | CA2059446476 | PAH | c.772C= (p.Leu258=) c.757C= (p.Leu253=) n.531C= | |
| 12 | g.102852885G>T | CA386295529 | PAH | c.772C>A (p.Leu258Met) c.757C>A (p.Leu253Met) n.531C>A | |
| 12 | g.102852886G>A | CA6748844 | PAH | c.771C>T (p.Gly257=) c.756C>T (p.Gly252=) n.530C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852886G>C | CA481331502 | PAH | c.771C>G (p.Gly257=) c.756C>G (p.Gly252=) n.530C>G | |
| 12 | g.102852886G= | CA2059446479 | PAH | c.771C= (p.Gly257=) c.756C= (p.Gly252=) n.530C= | |
| 12 | g.102852886G>T | CA481331503 | PAH | c.771C>A (p.Gly257=) c.756C>A (p.Gly252=) n.530C>A | ClinVar dbSNP |
| 12 | g.102852887C>A | CA229753 | PAH | c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) n.529G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852887C= | CA2059446486 | PAH | c.770G= (p.Gly257=) c.755G= (p.Gly252=) n.529G= | |
| 12 | g.102852887C>G | CA386295550 | PAH | c.770G>C (p.Gly257Ala) c.755G>C (p.Gly252Ala) n.529G>C | |
| 12 | g.102852887C>T | CA229751 | PAH | c.770G>A (p.Gly257Asp) c.755G>A (p.Gly252Asp) n.529G>A | ClinVar dbSNP |
| 12 | g.102852888C>A | CA229750 | PAH | c.769G>T (p.Gly257Cys) c.754G>T (p.Gly252Cys) n.528G>T | ClinVar dbSNP |
| 12 | g.102852888C= | CA2059446491 | PAH | c.769G= (p.Gly257=) c.754G= (p.Gly252=) n.528G= | |
| 12 | g.102852888C>G | CA386295558 | PAH | c.769G>C (p.Gly257Arg) c.754G>C (p.Gly252Arg) n.528G>C | |
| 12 | g.102852888C>T | CA229748 | PAH | c.769G>A (p.Gly257Ser) c.754G>A (p.Gly252Ser) n.528G>A | ClinVar dbSNP |
| 12 | g.102852889A= | CA2059446501 | PAH | c.768T= (p.Gly256=) c.753T= (p.Gly251=) n.527T= | |
| 12 | g.102852889A>C | CA481331510 | PAH | c.768T>G (p.Gly256=) c.753T>G (p.Gly251=) n.527T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852889A>G | CA481331511 | PAH | c.768T>C (p.Gly256=) c.753T>C (p.Gly251=) n.527T>C | |
| 12 | g.102852889A>T | CA481331512 | PAH | c.768T>A (p.Gly256=) c.753T>A (p.Gly251=) n.527T>A | |
| 12 | g.102852890C>A | CA386295577 | PAH | c.767G>T (p.Gly256Val) c.752G>T (p.Gly251Val) n.526G>T | |
| 12 | g.102852890C>G | CA386295568 | PAH | c.767G>C (p.Gly256Ala) c.752G>C (p.Gly251Ala) n.526G>C | gnomAD v4 |
| 12 | g.102852890C>T | CA386295573 | PAH | c.767G>A (p.Gly256Asp) c.752G>A (p.Gly251Asp) n.526G>A | |
| 12 | g.102852891C>A | CA386295581 | PAH | c.766G>T (p.Gly256Cys) c.751G>T (p.Gly251Cys) n.525G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852891C= | CA2059446506 | PAH | c.766G= (p.Gly256=) c.751G= (p.Gly251=) n.525G= | |
| 12 | g.102852891C>G | CA386295584 | PAH | c.766G>C (p.Gly256Arg) c.751G>C (p.Gly251Arg) n.525G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852891C>T | CA386295587 | PAH | c.766G>A (p.Gly256Ser) c.751G>A (p.Gly251Ser) n.525G>A | dbSNP |
| 12 | g.102852892C>A | CA386295590 | PAH | c.765G>T (p.Leu255Phe) c.750G>T (p.Leu250Phe) n.524G>T | |
| 12 | g.102852892C= | CA2059446509 | PAH | c.765G= (p.Leu255=) c.750G= (p.Leu250=) n.524G= | |
| 12 | g.102852892C>G | CA386295593 | PAH | c.765G>C (p.Leu255Phe) c.750G>C (p.Leu250Phe) n.524G>C | |
| 12 | g.102852892C>T | CA481331514 | PAH | c.765G>A (p.Leu255=) c.750G>A (p.Leu250=) n.524G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852893A= | CA2059446513 | PAH | c.764T= (p.Leu255=) c.749T= (p.Leu250=) n.523T= | |
| 12 | g.102852893A>C | CA386295604 | PAH | c.764T>G (p.Leu255Trp) c.749T>G (p.Leu250Trp) n.523T>G | |
| 12 | g.102852893A>G | CA229747 | PAH | c.764T>C (p.Leu255Ser) c.749T>C (p.Leu250Ser) n.523T>C | ClinVar dbSNP |
| 12 | g.102852893A>T | CA386295600 | PAH | c.764T>A (p.Leu255Ter) c.749T>A (p.Leu250Ter) n.523T>A | |
| 12 | g.102852894A= | CA2059446519 | PAH | c.763T= (p.Leu255=) c.748T= (p.Leu250=) n.522T= | |
| 12 | g.102852894A>C | CA229746 | PAH | c.763T>G (p.Leu255Val) c.748T>G (p.Leu250Val) n.522T>G | ClinVar dbSNP |
| 12 | g.102852894A>G | CA481331517 | PAH | c.763T>C (p.Leu255=) c.748T>C (p.Leu250=) n.522T>C | |
| 12 | g.102852894A>T | CA386295609 | PAH | c.763T>A (p.Leu255Met) c.748T>A (p.Leu250Met) n.522T>A | |
| 12 | g.102852895G>A | CA481331519 | PAH | c.762C>T (p.Phe254=) c.747C>T (p.Phe249=) n.521C>T | |
| 12 | g.102852895G>C | CA386295614 | PAH | c.762C>G (p.Phe254Leu) c.747C>G (p.Phe249Leu) n.521C>G | |
| 12 | g.102852895G>T | CA386295615 | PAH | c.762C>A (p.Phe254Leu) c.747C>A (p.Phe249Leu) n.521C>A | |
| 12 | g.102852896A>C | CA386295616 | PAH | c.761T>G (p.Phe254Cys) c.746T>G (p.Phe249Cys) n.520T>G | |
| 12 | g.102852896A>G | CA386295619 | PAH | c.761T>C (p.Phe254Ser) c.746T>C (p.Phe249Ser) n.520T>C | |
| 12 | g.102852896A>T | CA386295623 | PAH | c.761T>A (p.Phe254Tyr) c.746T>A (p.Phe249Tyr) n.520T>A | |
| 12 | g.102852897A= | CA2059446526 | PAH | c.760T= (p.Phe254=) c.745T= (p.Phe249=) n.519T= | |
| 12 | g.102852897A>C | CA386295625 | PAH | c.760T>G (p.Phe254Val) c.745T>G (p.Phe249Val) n.519T>G | |
| 12 | g.102852897A>G | CA386295628 | PAH | c.760T>C (p.Phe254Leu) c.745T>C (p.Phe249Leu) n.519T>C | |
| 12 | g.102852897A>T | CA229744 | PAH | c.760T>A (p.Phe254Ile) c.745T>A (p.Phe249Ile) n.519T>A | ClinVar dbSNP |
| 12 | g.102852898A>C | CA386295632 | PAH | c.759T>G (p.Asp253Glu) c.744T>G (p.Asp248Glu) n.518T>G | |
| 12 | g.102852898A>G | CA481331522 | PAH | c.759T>C (p.Asp253=) c.744T>C (p.Asp248=) n.518T>C | |
| 12 | g.102852898A>T | CA386295635 | PAH | c.759T>A (p.Asp253Glu) c.744T>A (p.Asp248Glu) n.518T>A | |
| 12 | g.102852899T>A | CA386295640 | PAH | c.758A>T (p.Asp253Val) c.743A>T (p.Asp248Val) n.517A>T | |
| 12 | g.102852899T>C | CA386295650 | PAH | c.758A>G (p.Asp253Gly) c.743A>G (p.Asp248Gly) n.517A>G | dbSNP |
| 12 | g.102852899T>G | CA386295646 | PAH | c.758A>C (p.Asp253Ala) c.743A>C (p.Asp248Ala) n.517A>C | |
| 12 | g.102852899T= | CA2059446530 | PAH | c.758A= (p.Asp253=) c.743A= (p.Asp248=) n.517A= | |
| 12 | g.102852900C>A | CA386295654 | PAH | c.757G>T (p.Asp253Tyr) c.742G>T (p.Asp248Tyr) n.516G>T | gnomAD v4 |
| 12 | g.102852900C= | CA2059446536 | PAH | c.757G= (p.Asp253=) c.742G= (p.Asp248=) n.516G= | |
| 12 | g.102852900C>G | CA386295661 | PAH | c.757G>C (p.Asp253His) c.742G>C (p.Asp248His) n.516G>C | |
| 12 | g.102852900C>T | CA6748845 | PAH | c.757G>A (p.Asp253Asn) c.742G>A (p.Asp248Asn) n.516G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852901C>A | CA481331531 | PAH | c.756G>T (p.Arg252=) c.741G>T (p.Arg247=) n.515G>T | dbSNP |
| 12 | g.102852901C= | CA2059446541 | PAH | c.756G= (p.Arg252=) c.741G= (p.Arg247=) n.515G= | |
| 12 | g.102852901C>G | CA481331529 | PAH | c.756G>C (p.Arg252=) c.741G>C (p.Arg247=) n.515G>C | |
| 12 | g.102852901C>T | CA481331530 | PAH | c.756G>A (p.Arg252=) c.741G>A (p.Arg247=) n.515G>A | ClinVar dbSNP |
| 12 | g.102852902C>A | CA386295664 | PAH | c.755G>T (p.Arg252Leu) c.740G>T (p.Arg247Leu) n.514G>T | |
| 12 | g.102852902C= | CA2059446547 | PAH | c.755G= (p.Arg252=) c.740G= (p.Arg247=) n.514G= | |
| 12 | g.102852902C>G | CA16020854 | PAH | c.755G>C (p.Arg252Pro) c.740G>C (p.Arg247Pro) n.514G>C | ClinVar dbSNP |
| 12 | g.102852902C>T | CA229743 | PAH | c.755G>A (p.Arg252Gln) c.740G>A (p.Arg247Gln) n.514G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852903G>A | CA251529 | PAH | c.754C>T (p.Arg252Trp) c.739C>T (p.Arg247Trp) n.513C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.[102852903G>A;102878057C>A] | CA057308 | PAH | c.[353-507G>T;754C>T] (p.Arg252Trp) c.[338-507G>T;739C>T] (p.Arg247Trp) | ClinVar |
| 12 | g.102852903G>C | CA229742 | PAH | c.754C>G (p.Arg252Gly) c.739C>G (p.Arg247Gly) n.513C>G | ClinVar dbSNP |
| 12 | g.102852903G= | CA2059446554 | PAH | c.754C= (p.Arg252=) c.739C= (p.Arg247=) n.513C= | |
| 12 | g.102852903G>T | CA481331533 | PAH | c.754C>A (p.Arg252=) c.739C>A (p.Arg247=) n.513C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852906_102852907del | CA16020852 | PAH | c.753_754del (p.Arg252GlyfsTer?) c.738_739del (p.Arg247GlyfsTer?) n.512_513del | ClinVar dbSNP |
| 12 | g.102852904del | CA16020853 | PAH | c.753del (p.Arg252GlyfsTer?) c.738del (p.Arg247GlyfsTer?) n.512del | ClinVar dbSNP |
| 12 | g.102852904A>C | CA481331535 | PAH | c.753T>G (p.Ser251=) c.738T>G (p.Ser246=) n.512T>G | |
| 12 | g.102852904A>G | CA481331536 | PAH | c.753T>C (p.Ser251=) c.738T>C (p.Ser246=) n.512T>C | |
| 12 | g.102852904A>T | CA481331537 | PAH | c.753T>A (p.Ser251=) c.738T>A (p.Ser246=) n.512T>A | |
| 12 | g.102852905G>A | CA6748846 | PAH | c.752C>T (p.Ser251Phe) c.737C>T (p.Ser246Phe) n.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852905G>C | CA386295685 | PAH | c.752C>G (p.Ser251Cys) c.737C>G (p.Ser246Cys) n.511C>G | |
| 12 | g.102852905G= | CA2059446557 | PAH | c.752C= (p.Ser251=) c.737C= (p.Ser246=) n.511C= | |
| 12 | g.102852905G>T | CA386295688 | PAH | c.752C>A (p.Ser251Tyr) c.737C>A (p.Ser246Tyr) n.511C>A | |
| 12 | g.102852906A>C | CA386295698 | PAH | c.751T>G (p.Ser251Ala) c.736T>G (p.Ser246Ala) n.510T>G | |
| 12 | g.102852906A>G | CA386295695 | PAH | c.751T>C (p.Ser251Pro) c.736T>C (p.Ser246Pro) n.510T>C | COSMIC |
| 12 | g.102852906A>T | CA386295692 | PAH | c.751T>A (p.Ser251Thr) c.736T>A (p.Ser246Thr) n.510T>A | |
| 12 | g.102852907G>A | CA481331540 | PAH | c.750C>T (p.Ser250=) c.735C>T (p.Ser245=) n.509C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852907G>C | CA481331542 | PAH | c.750C>G (p.Ser250=) c.735C>G (p.Ser245=) n.509C>G | dbSNP |
| 12 | g.102852907G= | CA2059446560 | PAH | c.750C= (p.Ser250=) c.735C= (p.Ser245=) n.509C= | |
| 12 | g.102852907G>T | CA481331541 | PAH | c.750C>A (p.Ser250=) c.735C>A (p.Ser245=) n.509C>A | ClinVar dbSNP |
| 12 | g.102852908G>A | CA386295701 | PAH | c.749C>T (p.Ser250Phe) c.734C>T (p.Ser245Phe) n.508C>T | |
| 12 | g.102852908G>C | CA386295702 | PAH | c.749C>G (p.Ser250Cys) c.734C>G (p.Ser245Cys) n.508C>G | |
| 12 | g.102852908G>T | CA386295703 | PAH | c.749C>A (p.Ser250Tyr) c.734C>A (p.Ser245Tyr) n.508C>A | |
| 12 | g.102852909A>C | CA386295704 | PAH | c.748T>G (p.Ser250Ala) c.733T>G (p.Ser245Ala) n.507T>G | |
| 12 | g.102852909A>G | CA386295705 | PAH | c.748T>C (p.Ser250Pro) c.733T>C (p.Ser245Pro) n.507T>C | |
| 12 | g.102852909A>T | CA386295706 | PAH | c.748T>A (p.Ser250Thr) c.733T>A (p.Ser245Thr) n.507T>A | |
| 12 | g.102852910A= | CA2059446564 | PAH | c.747T= (p.Leu249=) c.732T= (p.Leu244=) n.506T= | |
| 12 | g.102852910A>C | CA481331545 | PAH | c.747T>G (p.Leu249=) c.732T>G (p.Leu244=) n.506T>G | dbSNP |
| 12 | g.102852910A>G | CA481331547 | PAH | c.747T>C (p.Leu249=) c.732T>C (p.Leu244=) n.506T>C | COSMIC |
| 12 | g.102852910A>T | CA481331546 | PAH | c.747T>A (p.Leu249=) c.732T>A (p.Leu244=) n.506T>A | |
| 12 | g.102852911A= | CA2059446571 | PAH | c.746T= (p.Leu249=) c.731T= (p.Leu244=) n.505T= | |
| 12 | g.102852911A>C | CA386295707 | PAH | c.746T>G (p.Leu249Arg) c.731T>G (p.Leu244Arg) n.505T>G | |
| 12 | g.102852911A>G | CA16020851 | PAH | c.746T>C (p.Leu249Pro) c.731T>C (p.Leu244Pro) n.505T>C | |
| 12 | g.102852911A>T | CA229740 | PAH | c.746T>A (p.Leu249His) c.731T>A (p.Leu244His) n.505T>A | ClinVar dbSNP |
| 12 | g.102852911_102852912delinsAG | CA2059446570 | PAH | c.745_746delinsCT (p.Leu249=) c.730_731delinsCT (p.Leu244=) n.504_505delinsCT | |
| 12 | g.102852912del | CA16020850 | PAH | c.745del (p.Leu249PhefsTer?) c.730del (p.Leu244PhefsTer?) n.504del | ClinVar dbSNP |
| 12 | g.102852912G>A | CA273356 | PAH | c.745C>T (p.Leu249Phe) c.730C>T (p.Leu244Phe) n.504C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852912G>C | CA386295713 | PAH | c.745C>G (p.Leu249Val) c.730C>G (p.Leu244Val) n.504C>G | |
| 12 | g.102852912G= | CA2059446581 | PAH | c.745C= (p.Leu249=) c.730C= (p.Leu244=) n.504C= | |
| 12 | g.102852912G>T | CA386295716 | PAH | c.745C>A (p.Leu249Ile) c.730C>A (p.Leu244Ile) n.504C>A | |
| 12 | g.102852913C>A | CA481331549 | PAH | c.744G>T (p.Leu248=) c.729G>T (p.Leu243=) n.503G>T | |
| 12 | g.102852913C= | CA2059446583 | PAH | c.744G= (p.Leu248=) c.729G= (p.Leu243=) n.503G= | |
| 12 | g.102852913C>G | CA481331550 | PAH | c.744G>C (p.Leu248=) c.729G>C (p.Leu243=) n.503G>C | |
| 12 | g.102852913C>T | CA481331551 | PAH | c.744G>A (p.Leu248=) c.729G>A (p.Leu243=) n.503G>A | dbSNP |
| 12 | g.102852917_102852927del | CA2620515166 | PAH | c.734_744del (p.Val245AlafsTer?) c.719_729del (p.Val240AlafsTer?) n.493_503del | gnomAD v4 |
| 12 | g.102852914del | CA2695217156 | PAH | c.743del (p.Leu248ArgfsTer?) c.728del (p.Leu243ArgfsTer?) n.502del | |
| 12 | g.102852914A= | CA2059446586 | PAH | c.743T= (p.Leu248=) c.728T= (p.Leu243=) n.502T= | |
| 12 | g.102852914A>C | CA229738 | PAH | c.743T>G (p.Leu248Arg) c.728T>G (p.Leu243Arg) n.502T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852914A>G | CA229737 | PAH | c.743T>C (p.Leu248Pro) c.728T>C (p.Leu243Pro) n.502T>C | ClinVar dbSNP |
| 12 | g.102852914A>T | CA386295720 | PAH | c.743T>A (p.Leu248Gln) c.728T>A (p.Leu243Gln) n.502T>A | |
| 12 | g.102852915G>A | CA481331552 | PAH | c.742C>T (p.Leu248=) c.727C>T (p.Leu243=) n.501C>T | ClinVar dbSNP |
| 12 | g.102852915G>C | CA386295732 | PAH | c.742C>G (p.Leu248Val) c.727C>G (p.Leu243Val) n.501C>G | |
| 12 | g.102852915G= | CA2059446592 | PAH | c.742C= (p.Leu248=) c.727C= (p.Leu243=) n.501C= | |
| 12 | g.102852915G>T | CA386295729 | PAH | c.742C>A (p.Leu248Met) c.727C>A (p.Leu243Met) n.501C>A | |
| 12 | g.102852916G>A | CA481331553 | PAH | c.741C>T (p.Gly247=) c.726C>T (p.Gly242=) n.500C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102852916G>C | CA481331554 | PAH | c.741C>G (p.Gly247=) c.726C>G (p.Gly242=) n.500C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852916G= | CA2059446595 | PAH | c.741C= (p.Gly247=) c.726C= (p.Gly242=) n.500C= | |
| 12 | g.102852916G>T | CA481331555 | PAH | c.741C>A (p.Gly247=) c.726C>A (p.Gly242=) n.500C>A | gnomAD v4 |
| 12 | g.102852917C>A | CA229736 | PAH | c.740G>T (p.Gly247Val) c.725G>T (p.Gly242Val) n.499G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852917C= | CA2059446602 | PAH | c.740G= (p.Gly247=) c.725G= (p.Gly242=) n.499G= | |
| 12 | g.102852917C>G | CA386295738 | PAH | c.740G>C (p.Gly247Ala) c.725G>C (p.Gly242Ala) n.499G>C | |
| 12 | g.102852917C>T | CA229734 | PAH | c.740G>A (p.Gly247Asp) c.725G>A (p.Gly242Asp) n.499G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852918del | CA16020849 | PAH | c.740del (p.Gly247AlafsTer?) c.725del (p.Gly242AlafsTer?) n.499del | ClinVar dbSNP |
| 12 | g.102852918C>A | CA386295742 | PAH | c.739G>T (p.Gly247Cys) c.724G>T (p.Gly242Cys) n.498G>T | |
| 12 | g.102852918C= | CA2059446610 | PAH | c.739G= (p.Gly247=) c.724G= (p.Gly242=) n.498G= | |
| 12 | g.102852918C>G | CA229732 | PAH | c.739G>C (p.Gly247Arg) c.724G>C (p.Gly242Arg) n.498G>C | ClinVar dbSNP |
| 12 | g.102852918C>T | CA229730 | PAH | c.739G>A (p.Gly247Ser) c.724G>A (p.Gly242Ser) n.498G>A | ClinVar dbSNP COSMIC |
| 12 | g.102852919A>C | CA481331558 | PAH | c.738T>G (p.Ala246=) c.723T>G (p.Ala241=) n.497T>G | |
| 12 | g.102852919A>G | CA481331557 | PAH | c.738T>C (p.Ala246=) c.723T>C (p.Ala241=) n.497T>C | |
| 12 | g.102852919A>T | CA481331556 | PAH | c.738T>A (p.Ala246=) c.723T>A (p.Ala241=) n.497T>A | |
| 12 | g.102852919_102852920delinsAG | CA2059446615 | PAH | c.737_738delinsCT (p.Ala246=) c.722_723delinsCT (p.Ala241=) n.496_497delinsCT | |
| 12 | g.102852920del | CA229729 | PAH | c.737del (p.Ala246ValfsTer?) c.722del (p.Ala241ValfsTer?) n.496del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852920G>A | CA229727 | PAH | c.737C>T (p.Ala246Val) c.722C>T (p.Ala241Val) n.496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852920G>C | CA386295751 | PAH | c.737C>G (p.Ala246Gly) c.722C>G (p.Ala241Gly) n.496C>G | |
| 12 | g.102852920G= | CA2059446627 | PAH | c.737C= (p.Ala246=) c.722C= (p.Ala241=) n.496C= | |
| 12 | g.102852920G>T | CA229726 | PAH | c.737C>A (p.Ala246Asp) c.722C>A (p.Ala241Asp) n.496C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852921C>A | CA386295757 | PAH | c.736G>T (p.Ala246Ser) c.721G>T (p.Ala241Ser) n.495G>T | |
| 12 | g.102852921C= | CA2059446633 | PAH | c.736G= (p.Ala246=) c.721G= (p.Ala241=) n.495G= | |
| 12 | g.102852921C>G | CA386295761 | PAH | c.736G>C (p.Ala246Pro) c.721G>C (p.Ala241Pro) n.495G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852921C>T | CA386295762 | PAH | c.736G>A (p.Ala246Thr) c.721G>A (p.Ala241Thr) n.495G>A | |
| 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 |