Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400465_18400497delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG | CA1768218995 | NAT2 | c.462_494delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu154=) c.72_104delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu24=) | |
8 | g.18400473_18400504del | CA1768218996 | NAT2 | c.470_501del (p.Gly157AlafsTer10) c.80_111del (p.Gly27AlafsTer10) | dbSNP |
8 | g.18400472G>A | CA370635948 | NAT2 | c.469G>A (p.Gly157Arg) c.79G>A (p.Gly27Arg) | dbSNP |
8 | g.18400472G>C | CA370635949 | NAT2 | c.469G>C (p.Gly157Arg) c.79G>C (p.Gly27Arg) | gnomAD v4 |
8 | g.18400472G= | CA1768219000 | NAT2 | c.469G= (p.Gly157=) c.79G= (p.Gly27=) | |
8 | g.18400472G>T | CA370635950 | NAT2 | c.469G>T (p.Gly157Ter) c.79G>T (p.Gly27Ter) | |
8 | g.18400473G>A | CA4651629 | NAT2 | c.470G>A (p.Gly157Glu) c.80G>A (p.Gly27Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400473G>C | CA370635951 | NAT2 | c.470G>C (p.Gly157Ala) c.80G>C (p.Gly27Ala) | |
8 | g.18400473G= | CA1768219001 | NAT2 | c.470G= (p.Gly157=) c.80G= (p.Gly27=) | |
8 | g.18400473G>T | CA370635952 | NAT2 | c.470G>T (p.Gly157Val) c.80G>T (p.Gly27Val) | |
8 | g.18400474A>C | CA459881136 | NAT2 | c.471A>C (p.Gly157=) c.81A>C (p.Gly27=) | |
8 | g.18400474A>G | CA459881137 | NAT2 | c.471A>G (p.Gly157=) c.81A>G (p.Gly27=) | |
8 | g.18400474A>T | CA459881138 | NAT2 | c.471A>T (p.Gly157=) c.81A>T (p.Gly27=) | |
8 | g.18400475A= | CA1768219002 | NAT2 | c.472A= (p.Ile158=) c.82A= (p.Ile28=) | |
8 | g.18400475A>C | CA4651630 | NAT2 | c.472A>C (p.Ile158Leu) c.82A>C (p.Ile28Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400475A>G | CA370635953 | NAT2 | c.472A>G (p.Ile158Val) c.82A>G (p.Ile28Val) | gnomAD v4 |
8 | g.18400475A>T | CA370635954 | NAT2 | c.472A>T (p.Ile158Phe) c.82A>T (p.Ile28Phe) | |
8 | g.18400476T>A | CA370635955 | NAT2 | c.473T>A (p.Ile158Asn) c.83T>A (p.Ile28Asn) | |
8 | g.18400476T>C | CA370635956 | NAT2 | c.473T>C (p.Ile158Thr) c.83T>C (p.Ile28Thr) | |
8 | g.18400476T>G | CA370635957 | NAT2 | c.473T>G (p.Ile158Ser) c.83T>G (p.Ile28Ser) | |
8 | g.18400477C>A | CA459881139 | NAT2 | c.474C>A (p.Ile158=) c.84C>A (p.Ile28=) | |
8 | g.18400477C= | CA1768219003 | NAT2 | c.474C= (p.Ile158=) c.84C= (p.Ile28=) | |
8 | g.18400477C>G | CA370635958 | NAT2 | c.474C>G (p.Ile158Met) c.84C>G (p.Ile28Met) | gnomAD v4 |
8 | g.18400477C>T | CA459881140 | NAT2 | c.474C>T (p.Ile158=) c.84C>T (p.Ile28=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18400478T>A | CA173519923 | NAT2 | c.475T>A (p.Trp159Arg) c.85T>A (p.Trp29Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400478T>C | CA370635960 | NAT2 | c.475T>C (p.Trp159Arg) c.85T>C (p.Trp29Arg) | dbSNP gnomAD v2 |
8 | g.18400478T>G | CA370635959 | NAT2 | c.475T>G (p.Trp159Gly) c.85T>G (p.Trp29Gly) | |
8 | g.18400478T= | CA1768219004 | NAT2 | c.475T= (p.Trp159=) c.85T= (p.Trp29=) | |
8 | g.18400479G>A | CA370635961 | NAT2 | c.476G>A (p.Trp159Ter) c.86G>A (p.Trp29Ter) | |
8 | g.18400479G>C | CA370635962 | NAT2 | c.476G>C (p.Trp159Ser) c.86G>C (p.Trp29Ser) | |
8 | g.18400479G>T | CA370635963 | NAT2 | c.476G>T (p.Trp159Leu) c.86G>T (p.Trp29Leu) | |
8 | g.18400480G>A | CA370635964 | NAT2 | c.477G>A (p.Trp159Ter) c.87G>A (p.Trp29Ter) | |
8 | g.18400480G>C | CA370635965 | NAT2 | c.477G>C (p.Trp159Cys) c.87G>C (p.Trp29Cys) | |
8 | g.18400480G>T | CA370635966 | NAT2 | c.477G>T (p.Trp159Cys) c.87G>T (p.Trp29Cys) | |
8 | g.18400481T>A | CA370635967 | NAT2 | c.478T>A (p.Tyr160Asn) c.88T>A (p.Tyr30Asn) | |
8 | g.18400481T>C | CA370635968 | NAT2 | c.478T>C (p.Tyr160His) c.88T>C (p.Tyr30His) | |
8 | g.18400481T>G | CA370635969 | NAT2 | c.478T>G (p.Tyr160Asp) c.88T>G (p.Tyr30Asp) | |
8 | g.18400482A>C | CA370635972 | NAT2 | c.479A>C (p.Tyr160Ser) c.89A>C (p.Tyr30Ser) | |
8 | g.18400482A>G | CA370635971 | NAT2 | c.479A>G (p.Tyr160Cys) c.89A>G (p.Tyr30Cys) | |
8 | g.18400482A>T | CA370635970 | NAT2 | c.479A>T (p.Tyr160Phe) c.89A>T (p.Tyr30Phe) | |
8 | g.18400483C>A | CA370635973 | NAT2 | c.480C>A (p.Tyr160Ter) c.90C>A (p.Tyr30Ter) | |
8 | g.18400483C= | CA1768219005 | NAT2 | c.480C= (p.Tyr160=) c.90C= (p.Tyr30=) | |
8 | g.18400483C>G | CA370635974 | NAT2 | c.480C>G (p.Tyr160Ter) c.90C>G (p.Tyr30Ter) | |
8 | g.18400483C>T | CA173519924 | NAT2 | c.480C>T (p.Tyr160=) c.90C>T (p.Tyr30=) | dbSNP |
8 | g.18400484C>A | CA370635975 | NAT2 | c.481C>A (p.Leu161Met) c.91C>A (p.Leu31Met) | |
8 | g.18400484C= | CA1768219006 | NAT2 | c.481C= (p.Leu161=) c.91C= (p.Leu31=) | |
8 | g.18400484C>G | CA370635976 | NAT2 | c.481C>G (p.Leu161Val) c.91C>G (p.Leu31Val) | |
8 | g.18400484C>T | CA4651631 | NAT2 | c.481C>T (p.Leu161=) c.91C>T (p.Leu31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400485T>A | CA370635977 | NAT2 | c.482T>A (p.Leu161Gln) c.92T>A (p.Leu31Gln) | |
8 | g.18400485T>C | CA370635978 | NAT2 | c.482T>C (p.Leu161Pro) c.92T>C (p.Leu31Pro) | dbSNP gnomAD v3 gnomAD v4 |