| 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 |
| 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 | gnomAD |
| 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 |
| 12 | g.102852836T>G | CA386294554 | PAH | c.821A>C (p.Lys274Thr) c.806A>C (p.Lys269Thr) n.580A>C | |
| 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 |
| 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.102852838G>A | CA481331338 | PAH | c.819C>T (p.Ser273=) c.804C>T (p.Ser268=) n.578C>T | |
| 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 |
| 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 |
| 12 | g.102852840A>T | CA386294561 | PAH | c.817T>A (p.Ser273Thr) c.802T>A (p.Ser268Thr) n.576T>A | |
| 12 | g.102852841T>A | CA481331339 | PAH | c.816A>T (p.Gly272=) c.801A>T (p.Gly267=) n.575A>T | |
| 12 | g.102852841T>C | CA481331340 | PAH | c.816A>G (p.Gly272=) c.801A>G (p.Gly267=) n.575A>G | |
| 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 |
| 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 |
| 12 | g.102852844A>G | CA481331342 | PAH | c.813T>C (p.His271=) c.798T>C (p.His266=) n.572T>C |