Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400465A= | CA1768218994 | NAT2 | c.462A= (p.Glu154=) c.72A= (p.Glu24=) | |
8 | g.18400465A>C | CA370635932 | NAT2 | c.462A>C (p.Glu154Asp) c.72A>C (p.Glu24Asp) | |
8 | g.18400465A>G | CA4651627 | NAT2 | c.462A>G (p.Glu154=) c.72A>G (p.Glu24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18400465A>T | CA370635933 | NAT2 | c.462A>T (p.Glu154Asp) c.72A>T (p.Glu24Asp) | gnomAD v4 |
8 | g.18400465_18400497delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG | CA1768218995 | NAT2 | c.462_494delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu154=) c.72_104delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu24=) | |
8 | g.18400466G>A | CA370635934 | NAT2 | c.463G>A (p.Glu155Lys) c.73G>A (p.Glu25Lys) | dbSNP gnomAD v4 |
8 | g.18400466G>C | CA370635936 | NAT2 | c.463G>C (p.Glu155Gln) c.73G>C (p.Glu25Gln) | gnomAD v4 |
8 | g.18400466G= | CA1768218997 | NAT2 | c.463G= (p.Glu155=) c.73G= (p.Glu25=) | |
8 | g.18400466G>T | CA370635935 | NAT2 | c.463G>T (p.Glu155Ter) c.73G>T (p.Glu25Ter) | |
8 | g.18400473_18400504del | CA1768218996 | NAT2 | c.470_501del (p.Gly157AlafsTer10) c.80_111del (p.Gly27AlafsTer10) | dbSNP |
8 | g.18400467A>C | CA370635937 | NAT2 | c.464A>C (p.Glu155Ala) c.74A>C (p.Glu25Ala) | |
8 | g.18400467A>G | CA370635938 | NAT2 | c.464A>G (p.Glu155Gly) c.74A>G (p.Glu25Gly) | |
8 | g.18400467A>T | CA370635939 | NAT2 | c.464A>T (p.Glu155Val) c.74A>T (p.Glu25Val) | |
8 | g.18400468G>A | CA459881133 | NAT2 | c.465G>A (p.Glu155=) c.75G>A (p.Glu25=) | gnomAD v4 COSMIC |
8 | g.18400468G>C | CA4651628 | NAT2 | c.465G>C (p.Glu155Asp) c.75G>C (p.Glu25Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18400468G= | CA1768218998 | NAT2 | c.465G= (p.Glu155=) c.75G= (p.Glu25=) | |
8 | g.18400468G>T | CA370635940 | NAT2 | c.465G>T (p.Glu155Asp) c.75G>T (p.Glu25Asp) | |
8 | g.18400469A>C | CA459881134 | NAT2 | c.466A>C (p.Arg156=) c.76A>C (p.Arg26=) | |
8 | g.18400469A>G | CA370635941 | NAT2 | c.466A>G (p.Arg156Gly) c.76A>G (p.Arg26Gly) | |
8 | g.18400469A>T | CA370635942 | NAT2 | c.466A>T (p.Arg156Ter) c.76A>T (p.Arg26Ter) | |
8 | g.18400470G>A | CA370635943 | NAT2 | c.467G>A (p.Arg156Lys) c.77G>A (p.Arg26Lys) | ClinVar dbSNP gnomAD v2 |
8 | g.18400470G>C | CA370635945 | NAT2 | c.467G>C (p.Arg156Thr) c.77G>C (p.Arg26Thr) | |
8 | g.18400470G= | CA1768218999 | NAT2 | c.467G= (p.Arg156=) c.77G= (p.Arg26=) | |
8 | g.18400470G>T | CA370635944 | NAT2 | c.467G>T (p.Arg156Ile) c.77G>T (p.Arg26Ile) | |
8 | g.18400471A>C | CA370635946 | NAT2 | c.468A>C (p.Arg156Ser) c.78A>C (p.Arg26Ser) | |
8 | g.18400471A>G | CA459881135 | NAT2 | c.468A>G (p.Arg156=) c.78A>G (p.Arg26=) | |
8 | g.18400471A>T | CA370635947 | NAT2 | c.468A>T (p.Arg156Ser) c.78A>T (p.Arg26Ser) | gnomAD v4 |
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 |