Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400390C>A | CA459881235 | NAT2 | c.387C>A (p.Ser129=) c.-4C>A (n.-4C>A) | |
8 | g.18400390C= | CA1768218961 | NAT2 | c.387C= (p.Ser129=) c.-4C= (n.-4C=) | |
8 | g.18400390C>G | CA459881236 | NAT2 | c.387C>G (p.Ser129=) c.-4C>G (n.-4C>G) | |
8 | g.18400390C>T | CA4651613 | NAT2 | c.387C>T (p.Ser129=) c.-4C>T (n.-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400391C>A | CA173519917 | NAT2 | c.388C>A (p.Gln130Lys) c.-3C>A (n.-3C>A) | dbSNP |
8 | g.18400391C= | CA1768218962 | NAT2 | c.388C= (p.Gln130=) c.-3C= (n.-3C=) | |
8 | g.18400391C>G | CA370635771 | NAT2 | c.388C>G (p.Gln130Glu) c.-3C>G (n.-3C>G) | |
8 | g.18400391C>T | CA370635770 | NAT2 | c.388C>T (p.Gln130Ter) c.-3C>T (n.-3C>T) | |
8 | g.18400392A>C | CA370635772 | NAT2 | c.389A>C (p.Gln130Pro) c.-2A>C (n.-2A>C) | gnomAD v4 |
8 | g.18400392A>G | CA370635774 | NAT2 | c.389A>G (p.Gln130Arg) c.-2A>G (n.-2A>G) | |
8 | g.18400392A>T | CA370635773 | NAT2 | c.389A>T (p.Gln130Leu) c.-2A>T (n.-2A>T) | |
8 | g.18400393G>A | CA459881237 | NAT2 | c.390G>A (p.Gln130=) c.-1G>A (n.-1G>A) | gnomAD v4 |
8 | g.18400393G>C | CA173519918 | NAT2 | c.390G>C (p.Gln130His) c.-1G>C (n.-1G>C) | dbSNP |
8 | g.18400393G= | CA1768218963 | NAT2 | c.390G= (p.Gln130=) c.-1G= (n.-1G=) | |
8 | g.18400393G>T | CA370635775 | NAT2 | c.390G>T (p.Gln130His) c.-1G>T (n.-1G>T) | gnomAD v4 |
8 | g.18400394A>C | CA370635776 | NAT2 | c.391A>C (p.Met131Leu) c.1A>C (p.Met1Leu) | |
8 | g.18400394A>G | CA370635777 | NAT2 | c.391A>G (p.Met131Val) c.1A>G (p.Met1Val) | |
8 | g.18400394A>T | CA370635778 | NAT2 | c.391A>T (p.Met131Leu) c.1A>T (p.Met1Leu) | gnomAD v4 |
8 | g.18400395T>A | CA370635779 | NAT2 | c.392T>A (p.Met131Lys) c.2T>A (p.Met1Lys) | |
8 | g.18400395T>C | CA370635780 | NAT2 | c.392T>C (p.Met131Thr) c.2T>C (p.Met1Thr) | |
8 | g.18400395T>G | CA370635781 | NAT2 | c.392T>G (p.Met131Arg) c.2T>G (p.Met1Arg) | |
8 | g.18400396G>A | CA173519919 | NAT2 | c.393G>A (p.Met131Ile) c.3G>A (p.Met1Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18400396G>C | CA173519920 | NAT2 | c.393G>C (p.Met131Ile) c.3G>C (p.Met1Ile) | dbSNP |
8 | g.18400396G= | CA1768218964 | NAT2 | c.393G= (p.Met131=) c.3G= (p.Met1=) | |
8 | g.18400396G>T | CA4651614 | NAT2 | c.393G>T (p.Met131Ile) c.3G>T (p.Met1Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400397T>A | CA370635784 | NAT2 | c.394T>A (p.Trp132Arg) c.4T>A (p.Trp2Arg) | |
8 | g.18400397T>C | CA370635783 | NAT2 | c.394T>C (p.Trp132Arg) c.4T>C (p.Trp2Arg) | gnomAD v4 |
8 | g.18400397T>G | CA370635782 | NAT2 | c.394T>G (p.Trp132Gly) c.4T>G (p.Trp2Gly) | dbSNP |
8 | g.18400397T= | CA1768218965 | NAT2 | c.394T= (p.Trp132=) c.4T= (p.Trp2=) | |
8 | g.18400398G>A | CA370635785 | NAT2 | c.395G>A (p.Trp132Ter) c.5G>A (p.Trp2Ter) | gnomAD v4 |
8 | g.18400398G>C | CA370635786 | NAT2 | c.395G>C (p.Trp132Ser) c.5G>C (p.Trp2Ser) | |
8 | g.18400398G>T | CA370635787 | NAT2 | c.395G>T (p.Trp132Leu) c.5G>T (p.Trp2Leu) | |
8 | g.18400399G>A | CA370635788 | NAT2 | c.396G>A (p.Trp132Ter) c.6G>A (p.Trp2Ter) | |
8 | g.18400399G>C | CA4651615 | NAT2 | c.396G>C (p.Trp132Cys) c.6G>C (p.Trp2Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18400399G= | CA1768218966 | NAT2 | c.396G= (p.Trp132=) c.6G= (p.Trp2=) | |
8 | g.18400399G>T | CA370635789 | NAT2 | c.396G>T (p.Trp132Cys) c.6G>T (p.Trp2Cys) | gnomAD v4 |
8 | g.18400400C>A | CA370635790 | NAT2 | c.397C>A (p.Gln133Lys) c.7C>A (p.Gln3Lys) | |
8 | g.18400400C>G | CA370635791 | NAT2 | c.397C>G (p.Gln133Glu) c.7C>G (p.Gln3Glu) | |
8 | g.18400400C>T | CA370635792 | NAT2 | c.397C>T (p.Gln133Ter) c.7C>T (p.Gln3Ter) | |
8 | g.18400401A>C | CA370635793 | NAT2 | c.398A>C (p.Gln133Pro) c.8A>C (p.Gln3Pro) | |
8 | g.18400401A>G | CA370635794 | NAT2 | c.398A>G (p.Gln133Arg) c.8A>G (p.Gln3Arg) | |
8 | g.18400401A>T | CA370635795 | NAT2 | c.398A>T (p.Gln133Leu) c.8A>T (p.Gln3Leu) | |
8 | g.18400402G>A | CA459881238 | NAT2 | c.399G>A (p.Gln133=) c.9G>A (p.Gln3=) | gnomAD v4 |
8 | g.18400402G>C | CA370635797 | NAT2 | c.399G>C (p.Gln133His) c.9G>C (p.Gln3His) | gnomAD v4 COSMIC |
8 | g.18400402G>T | CA370635796 | NAT2 | c.399G>T (p.Gln133His) c.9G>T (p.Gln3His) | |
8 | g.18400403C>A | CA370635798 | NAT2 | c.400C>A (p.Pro134Thr) c.10C>A (p.Pro4Thr) | |
8 | g.18400403C= | CA1768218967 | NAT2 | c.400C= (p.Pro134=) c.10C= (p.Pro4=) | |
8 | g.18400403C>G | CA370635799 | NAT2 | c.400C>G (p.Pro134Ala) c.10C>G (p.Pro4Ala) | gnomAD v4 |
8 | g.18400403C>T | CA4651616 | NAT2 | c.400C>T (p.Pro134Ser) c.10C>T (p.Pro4Ser) | dbSNP ExAC gnomAD v4 COSMIC |
8 | g.18400404C>A | CA370635800 | NAT2 | c.401C>A (p.Pro134His) c.11C>A (p.Pro4His) |