| 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.102852839_102852850del | CA2697551513 | PAH | c.809_820del (p.Arg270_Ser273del) c.794_805del (p.Arg265_Ser268del) n.568_579del | |
| 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 | |
| 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 | |
| 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 |