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.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 | ClinVar |
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 | |
12 | g.102852861T>C | CA229765 | PAH | c.796A>G (p.Thr266Ala) c.781A>G (p.Thr261Ala) n.555A>G | ClinVar dbSNP |
12 | g.102852861T>G | CA267673 | PAH | c.796A>C (p.Thr266Pro) c.781A>C (p.Thr261Pro) n.555A>C | ClinVar dbSNP |
12 | g.102852861T= | CA2059446380 | PAH | c.796A= (p.Thr266=) c.781A= (p.Thr261=) n.555A= | |
12 | g.102852862G>A | CA481331464 | PAH | c.795C>T (p.Cys265=) c.780C>T (p.Cys260=) n.554C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102852862G>C | CA386295328 | PAH | c.795C>G (p.Cys265Trp) c.780C>G (p.Cys260Trp) n.554C>G | |
12 | g.102852862G= | CA2059446389 | PAH | c.795C= (p.Cys265=) c.780C= (p.Cys260=) n.554C= | |
12 | g.102852862G>T | CA16020859 | PAH | c.795C>A (p.Cys265Ter) c.780C>A (p.Cys260Ter) n.554C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102852863C>A | CA386295335 | PAH | c.794G>T (p.Cys265Phe) c.779G>T (p.Cys260Phe) n.553G>T | COSMIC |
12 | g.102852863C= | CA2059446393 | PAH | c.794G= (p.Cys265=) c.779G= (p.Cys260=) n.553G= | |
12 | g.102852863C>G | CA386295338 | PAH | c.794G>C (p.Cys265Ser) c.779G>C (p.Cys260Ser) n.553G>C | |
12 | g.102852863C>T | CA229763 | PAH | c.794G>A (p.Cys265Tyr) c.779G>A (p.Cys260Tyr) n.553G>A | ClinVar dbSNP gnomAD v4 |
12 | g.102852864A= | CA2059446398 | PAH | c.793T= (p.Cys265=) c.778T= (p.Cys260=) n.552T= | |
12 | g.102852864A>C | CA229762 | PAH | c.793T>G (p.Cys265Gly) c.778T>G (p.Cys260Gly) n.552T>G | ClinVar dbSNP |
12 | g.102852864A>G | CA16020858 | PAH | c.793T>C (p.Cys265Arg) c.778T>C (p.Cys260Arg) n.552T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102852864A>T | CA386295349 | PAH | c.793T>A (p.Cys265Ser) c.778T>A (p.Cys260Ser) n.552T>A | |
12 | g.102852865del | CA2695199166 | PAH | c.792del (p.Cys265AlafsTer?) c.777del (p.Cys260AlafsTer?) n.551del | ClinVar |
12 | g.102852865G>A | CA242471830 | PAH | c.792C>T (p.His264=) c.777C>T (p.His259=) n.551C>T | ClinVar dbSNP gnomAD v4 |
12 | g.102852865G>C | CA386295358 | PAH | c.792C>G (p.His264Gln) c.777C>G (p.His259Gln) n.551C>G | gnomAD v4 |
12 | g.102852865G= | CA2059446403 | PAH | c.792C= (p.His264=) c.777C= (p.His259=) n.551C= | |
12 | g.102852865G>T | CA386295354 | PAH | c.792C>A (p.His264Gln) c.777C>A (p.His259Gln) n.551C>A | gnomAD v4 |
12 | g.102852866T>A | CA229761 | PAH | c.791A>T (p.His264Leu) c.776A>T (p.His259Leu) n.550A>T | ClinVar dbSNP |
12 | g.102852866T>C | CA386295372 | PAH | c.791A>G (p.His264Arg) c.776A>G (p.His259Arg) n.550A>G | ClinVar dbSNP |
12 | g.102852866T>G | CA386295376 | PAH | c.791A>C (p.His264Pro) c.776A>C (p.His259Pro) n.550A>C | |
12 | g.102852866T= | CA2059446410 | PAH | c.791A= (p.His264=) c.776A= (p.His259=) n.550A= | |
12 | g.102852866_102852867delinsTG | CA2059446406 | PAH | c.790_791delinsCA (p.His264=) c.775_776delinsCA (p.His259=) n.549_550delinsCA | |
12 | g.102852867G>A | CA6748842 | PAH | c.790C>T (p.His264Tyr) c.775C>T (p.His259Tyr) n.549C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852867G>C | CA386295383 | PAH | c.790C>G (p.His264Asp) c.775C>G (p.His259Asp) n.549C>G | |
12 | g.102852867G= | CA2059446412 | PAH | c.790C= (p.His264=) c.775C= (p.His259=) n.549C= | |
12 | g.102852867G>T | CA386295386 | PAH | c.790C>A (p.His264Asn) c.775C>A (p.His259Asn) n.549C>A | |
12 | g.102852868del | CA16041559 | PAH | c.790del (p.His264ThrfsTer?) c.775del (p.His259ThrfsTer?) n.549del | ClinVar dbSNP |
12 | g.102852868G>A | CA481331472 | PAH | c.789C>T (p.Phe263=) c.774C>T (p.Phe258=) n.548C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102852868G>C | CA229760 | PAH | c.789C>G (p.Phe263Leu) c.774C>G (p.Phe258Leu) n.548C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852868G= | CA2059446416 | PAH | c.789C= (p.Phe263=) c.774C= (p.Phe258=) n.548C= | |
12 | g.102852868G>T | CA386295393 | PAH | c.789C>A (p.Phe263Leu) c.774C>A (p.Phe258Leu) n.548C>A | ClinVar dbSNP |
12 | g.102852869A= | CA2059446426 | PAH | c.788T= (p.Phe263=) c.773T= (p.Phe258=) n.547T= | |
12 | g.102852869A>C | CA386295396 | PAH | c.788T>G (p.Phe263Cys) c.773T>G (p.Phe258Cys) n.547T>G |