| 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.102852842_102852847delinsCCATGT | CA2059446231 | PAH | c.810_815delinsACATGG (p.Arg270=) c.795_800delinsACATGG (p.Arg265=) n.569_574delinsACATGG | |
| 12 | g.102852844_102852848del | CA229783 | PAH | c.810_814del (p.His271IlefsTer10) c.795_799del (p.His266IlefsTer10) n.569_573del | ClinVar dbSNP |
| 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 |
| 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 |
| 12 | g.102852852T>G | CA229775 | PAH | c.805A>C (p.Ile269Leu) c.790A>C (p.Ile264Leu) n.564A>C | ClinVar dbSNP ExAC gnomAD |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 COSMIC |