| 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.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 | ClinVar |
| 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 | |
| 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 |
| 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 |
| 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 | |
| 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 |
| 12 | g.102852849T>A | CA386295229 | PAH | c.808A>T (p.Arg270Ter) c.793A>T (p.Arg265Ter) n.567A>T |