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.102854491_102855291del | CA658656325 | PAH | c.553_706+647del c.538_691+647del c.553_*296del | ClinVar |
12 | g.102854490_102855289delinsATAGGTAAGTA | CA2580085705 | PAH | c.553_706+646delinsTACTTACCTAT c.538_691+646delinsTACTTACCTAT c.553_*295delinsTACTTACCTAT | ClinVar |
12 | g.102855155_102855353delinsTGG | CA2573147930 | PAH | c.510-21_687delinsCCA c.495-21_672delinsCCA n.606-21_783delinsCCA | ClinVar dbSNP |
12 | g.102855166G>A | CA229689 | PAH | c.676C>T (p.Gln226Ter) c.661C>T (p.Gln221Ter) n.772C>T | ClinVar dbSNP gnomAD v4 |
12 | g.102855166G>C | CA386296587 | PAH | c.676C>G (p.Gln226Glu) c.661C>G (p.Gln221Glu) n.772C>G | |
12 | g.102855166G= | CA2059449166 | PAH | c.676C= (p.Gln226=) c.661C= (p.Gln221=) n.772C= | |
12 | g.102855166G>T | CA16020836 | PAH | c.676C>A (p.Gln226Lys) c.661C>A (p.Gln221Lys) n.772C>A | ClinVar dbSNP gnomAD v4 |
12 | g.102855169del | CA2580085710 | PAH | c.676del (p.Gln226SerfsTer?) c.661del (p.Gln221SerfsTer?) n.772del | ClinVar |
12 | g.102855167G>A | CA481578481 | PAH | c.675C>T (p.Pro225=) c.660C>T (p.Pro220=) n.771C>T | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.102855167G>C | CA481578482 | PAH | c.675C>G (p.Pro225=) c.660C>G (p.Pro220=) n.771C>G | |
12 | g.102855167G>T | CA481578479 | PAH | c.675C>A (p.Pro225=) c.660C>A (p.Pro220=) n.771C>A | |
12 | g.102855168G>A | CA6748883 | PAH | c.674C>T (p.Pro225Leu) c.659C>T (p.Pro220Leu) n.770C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102855168G>C | CA229688 | PAH | c.674C>G (p.Pro225Arg) c.659C>G (p.Pro220Arg) n.770C>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855168G= | CA2059449179 | PAH | c.674C= (p.Pro225=) c.659C= (p.Pro220=) n.770C= | |
12 | g.102855168G>T | CA386296588 | PAH | c.674C>A (p.Pro225His) c.659C>A (p.Pro220His) n.770C>A | |
12 | g.102855168_102855175dup | CA16021000 | PAH | c.667_674dup (p.Gln226ThrfsTer?) c.652_659dup (p.Gln221ThrfsTer?) n.763_770dup | ClinVar dbSNP |
12 | g.102855169G>A | CA386296589 | PAH | c.673C>T (p.Pro225Ser) c.658C>T (p.Pro220Ser) n.769C>T | |
12 | g.102855169G>C | CA229686 | PAH | c.673C>G (p.Pro225Ala) c.658C>G (p.Pro220Ala) n.769C>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855169G= | CA2059449194 | PAH | c.673C= (p.Pro225=) c.658C= (p.Pro220=) n.769C= | |
12 | g.102855169G>T | CA229685 | PAH | c.673C>A (p.Pro225Thr) c.658C>A (p.Pro220Thr) n.769C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855170A= | CA2059449207 | PAH | c.672T= (p.Ile224=) c.657T= (p.Ile219=) n.768T= | |
12 | g.102855170A>C | CA229684 | PAH | c.672T>G (p.Ile224Met) c.657T>G (p.Ile219Met) n.768T>G | ClinVar dbSNP |
12 | g.102855170A>G | CA481578487 | PAH | c.672T>C (p.Ile224=) c.657T>C (p.Ile219=) n.768T>C | |
12 | g.102855170A>T | CA481578486 | PAH | c.672T>A (p.Ile224=) c.657T>A (p.Ile219=) n.768T>A | |
12 | g.102855171A= | CA2059449214 | PAH | c.671T= (p.Ile224=) c.656T= (p.Ile219=) n.767T= | |
12 | g.102855171A>C | CA386296590 | PAH | c.671T>G (p.Ile224Ser) c.656T>G (p.Ile219Ser) n.767T>G | |
12 | g.102855171A>G | CA229682 | PAH | c.671T>C (p.Ile224Thr) c.656T>C (p.Ile219Thr) n.767T>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855171A>T | CA386296591 | PAH | c.671T>A (p.Ile224Asn) c.656T>A (p.Ile219Asn) n.767T>A | |
12 | g.102855172T>A | CA386296592 | PAH | c.670A>T (p.Ile224Phe) c.655A>T (p.Ile219Phe) n.766A>T | |
12 | g.102855172T>C | CA386296593 | PAH | c.670A>G (p.Ile224Val) c.655A>G (p.Ile219Val) n.766A>G | ClinVar gnomAD v4 |
12 | g.102855172T>G | CA386296594 | PAH | c.670A>C (p.Ile224Leu) c.655A>C (p.Ile219Leu) n.766A>C | ClinVar gnomAD v4 |
12 | g.102855173del | CA16020835 | PAH | c.669del (p.Asn223LysfsTer?) c.654del (p.Asn218LysfsTer?) n.765del | ClinVar |
12 | g.102855173G>A | CA481578493 | PAH | c.669C>T (p.Asn223=) c.654C>T (p.Asn218=) n.765C>T | ClinVar dbSNP |
12 | g.102855173G>C | CA386296595 | PAH | c.669C>G (p.Asn223Lys) c.654C>G (p.Asn218Lys) n.765C>G | |
12 | g.102855173G= | CA2059449224 | PAH | c.669C= (p.Asn223=) c.654C= (p.Asn218=) n.765C= | |
12 | g.102855173G>T | CA386296596 | PAH | c.669C>A (p.Asn223Lys) c.654C>A (p.Asn218Lys) n.765C>A | |
12 | g.102855174T>A | CA6748885 | PAH | c.668A>T (p.Asn223Ile) c.653A>T (p.Asn218Ile) n.764A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855174T>C | CA6748884 | PAH | c.668A>G (p.Asn223Ser) c.653A>G (p.Asn218Ser) n.764A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855174T>G | CA386296597 | PAH | c.668A>C (p.Asn223Thr) c.653A>C (p.Asn218Thr) n.764A>C | |
12 | g.102855174T= | CA2059449229 | PAH | c.668A= (p.Asn223=) c.653A= (p.Asn218=) n.764A= | |
12 | g.102855175T>A | CA16020834 | PAH | c.667A>T (p.Asn223Tyr) c.652A>T (p.Asn218Tyr) n.763A>T | ClinVar dbSNP |
12 | g.102855175T>C | CA386296599 | PAH | c.667A>G (p.Asn223Asp) c.652A>G (p.Asn218Asp) n.763A>G | |
12 | g.102855175T>G | CA386296598 | PAH | c.667A>C (p.Asn223His) c.652A>C (p.Asn218His) n.763A>C | |
12 | g.102855177_102855353del | CA16020833 | PAH | c.510-19_667del c.495-19_652del n.606-19_763del | ClinVar |
12 | g.102855176A= | CA2059449232 | PAH | c.666T= (p.Asp222=) c.651T= (p.Asp217=) n.762T= | |
12 | g.102855176A>C | CA386296600 | PAH | c.666T>G (p.Asp222Glu) c.651T>G (p.Asp217Glu) n.762T>G | ClinVar dbSNP |
12 | g.102855176A>G | CA481578495 | PAH | c.666T>C (p.Asp222=) c.651T>C (p.Asp217=) n.762T>C | gnomAD v4 COSMIC |
12 | g.102855176A>T | CA386296601 | PAH | c.666T>A (p.Asp222Glu) c.651T>A (p.Asp217Glu) n.762T>A | |
12 | g.102855176_102855178delinsATC | CA2059449231 | PAH | c.664_666delinsGAT (p.Asp222=) c.649_651delinsGAT (p.Asp217=) n.760_762delinsGAT |