| 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.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 | |
| 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 | |
| 12 | g.102852849T>C | CA229779 | PAH | c.808A>G (p.Arg270Gly) c.793A>G (p.Arg265Gly) n.567A>G | ClinVar dbSNP |
| 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 | |
| 12 | g.102852850G>T | CA481331449 | PAH | c.807C>A (p.Ile269=) c.792C>A (p.Ile264=) n.566C>A | |
| 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 |
| 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 |