Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400185G>A | CA370635338 | NAT2 | c.182G>A (p.Arg61Lys) c.-57-152G>A (n.-57-152G>A) | |
8 | g.18400185G>C | CA370635339 | NAT2 | c.182G>C (p.Arg61Thr) c.-57-152G>C (n.-57-152G>C) | gnomAD v4 |
8 | g.18400185G>T | CA370635340 | NAT2 | c.182G>T (p.Arg61Ile) c.-57-152G>T (n.-57-152G>T) | |
8 | g.18400186A>C | CA370635341 | NAT2 | c.183A>C (p.Arg61Ser) c.-57-151A>C (n.-57-151A>C) | |
8 | g.18400186A>G | CA459699281 | NAT2 | c.183A>G (p.Arg61=) c.-57-151A>G (n.-57-151A>G) | |
8 | g.18400186A>T | CA370635342 | NAT2 | c.183A>T (p.Arg61Ser) c.-57-151A>T (n.-57-151A>T) | |
8 | g.18400187A= | CA1768218848 | NAT2 | c.184A= (p.Arg62=) c.-57-150A= (n.-57-150A=) | |
8 | g.18400187A>C | CA459699282 | NAT2 | c.184A>C (p.Arg62=) c.-57-150A>C (n.-57-150A>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400187A>G | CA370635343 | NAT2 | c.184A>G (p.Arg62Gly) c.-57-150A>G (n.-57-150A>G) | |
8 | g.18400187A>T | CA370635344 | NAT2 | c.184A>T (p.Arg62Ter) c.-57-150A>T (n.-57-150A>T) | |
8 | g.18400188G>A | CA370635345 | NAT2 | c.185G>A (p.Arg62Lys) c.-57-149G>A (n.-57-149G>A) | |
8 | g.18400188G>C | CA370635346 | NAT2 | c.185G>C (p.Arg62Thr) c.-57-149G>C (n.-57-149G>C) | |
8 | g.18400188G>T | CA370635347 | NAT2 | c.185G>T (p.Arg62Ile) c.-57-149G>T (n.-57-149G>T) | |
8 | g.18400189A>C | CA370635348 | NAT2 | c.186A>C (p.Arg62Ser) c.-57-148A>C (n.-57-148A>C) | |
8 | g.18400189A>G | CA459881045 | NAT2 | c.186A>G (p.Arg62=) c.-57-148A>G (n.-57-148A>G) | |
8 | g.18400189A>T | CA370635349 | NAT2 | c.186A>T (p.Arg62Ser) c.-57-148A>T (n.-57-148A>T) | |
8 | g.18400190A>C | CA370635351 | NAT2 | c.187A>C (p.Asn63His) c.-57-147A>C (n.-57-147A>C) | |
8 | g.18400190A>G | CA370635352 | NAT2 | c.187A>G (p.Asn63Asp) c.-57-147A>G (n.-57-147A>G) | |
8 | g.18400190A>T | CA370635350 | NAT2 | c.187A>T (p.Asn63Tyr) c.-57-147A>T (n.-57-147A>T) | |
8 | g.18400191A= | CA1768218849 | NAT2 | c.188A= (p.Asn63=) c.-57-146A= (n.-57-146A=) | |
8 | g.18400191A>C | CA370635353 | NAT2 | c.188A>C (p.Asn63Thr) c.-57-146A>C (n.-57-146A>C) | |
8 | g.18400191A>G | CA4651568 | NAT2 | c.188A>G (p.Asn63Ser) c.-57-146A>G (n.-57-146A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400191A>T | CA370635354 | NAT2 | c.188A>T (p.Asn63Ile) c.-57-146A>T (n.-57-146A>T) | |
8 | g.18400191_18400192delinsAC | CA1768218850 | NAT2 | c.188_189delinsAC (p.Asn63=) c.-57-146_-57-145delinsAC (n.-57-146_-57-145delinsAC) | |
8 | g.18400192C>A | CA370635355 | NAT2 | c.189C>A (p.Asn63Lys) c.-57-145C>A (n.-57-145C>A) | |
8 | g.18400192C>G | CA370635356 | NAT2 | c.189C>G (p.Asn63Lys) c.-57-145C>G (n.-57-145C>G) | |
8 | g.18400192C>T | CA459881046 | NAT2 | c.189C>T (p.Asn63=) c.-57-145C>T (n.-57-145C>T) | |
8 | g.18400193del | CA173519894 | NAT2 | c.190del (p.Arg64GlyfsTer16) c.-57-144del (n.-57-144del) | dbSNP |
8 | g.18400192_18400194delinsCCG | CA1768218851 | NAT2 | c.189_191delinsCCG (p.Asn63=) c.-57-145_-57-143delinsCCG (n.-57-145_-57-143delinsCCG) | |
8 | g.18400193C>A | CA459881047 | NAT2 | c.190C>A (p.Arg64=) c.-57-144C>A (n.-57-144C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18400193C= | CA1768218853 | NAT2 | c.190C= (p.Arg64=) c.-57-144C= (n.-57-144C=) | |
8 | g.18400193C>G | CA370635357 | NAT2 | c.190C>G (p.Arg64Gly) c.-57-144C>G (n.-57-144C>G) | |
8 | g.18400193C>T | CA4651569 | NAT2 | c.190C>T (p.Arg64Trp) c.-57-144C>T (n.-57-144C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400193_18400194delinsA | CA173519895 | NAT2 | c.190_191delinsA (p.Gly65ValfsTer15) c.-57-144_-57-143delinsA (n.-57-144_-57-143delinsA) | dbSNP |
8 | g.18400193_18400194delinsT | CA173519896 | NAT2 | c.190_191delinsT (p.Arg64TrpfsTer16) c.-57-144_-57-143delinsT (n.-57-144_-57-143delinsT) | dbSNP |
8 | g.18400193_18400194delinsCG | CA1768218852 | NAT2 | c.190_191delinsCG (p.Arg64=) c.-57-144_-57-143delinsCG (n.-57-144_-57-143delinsCG) | |
8 | g.18400194G>A | CA114455 | NAT2 | c.191G>A (p.Arg64Gln) c.-57-143G>A (n.-57-143G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400194G>C | CA370635358 | NAT2 | c.191G>C (p.Arg64Pro) c.-57-143G>C (n.-57-143G>C) | gnomAD v4 |
8 | g.18400194G= | CA1768218854 | NAT2 | c.191G= (p.Arg64=) c.-57-143G= (n.-57-143G=) | |
8 | g.18400194G>T | CA370635359 | NAT2 | c.191G>T (p.Arg64Leu) c.-57-143G>T (n.-57-143G>T) | |
8 | g.18400197del | CA173519897 | NAT2 | c.194del (p.Gly65ValfsTer15) c.-57-140del (n.-57-140del) | dbSNP |
8 | g.18400195G>A | CA459881048 | NAT2 | c.192G>A (p.Arg64=) c.-57-142G>A (n.-57-142G>A) | gnomAD v4 |
8 | g.18400195G>C | CA459881049 | NAT2 | c.192G>C (p.Arg64=) c.-57-142G>C (n.-57-142G>C) | |
8 | g.18400195G>T | CA459881050 | NAT2 | c.192G>T (p.Arg64=) c.-57-142G>T (n.-57-142G>T) | |
8 | g.18400196G>A | CA370635360 | NAT2 | c.193G>A (p.Gly65Ser) c.-57-141G>A (n.-57-141G>A) | gnomAD v4 |
8 | g.18400196G>C | CA370635361 | NAT2 | c.193G>C (p.Gly65Arg) c.-57-141G>C (n.-57-141G>C) | |
8 | g.18400196G>T | CA370635362 | NAT2 | c.193G>T (p.Gly65Cys) c.-57-141G>T (n.-57-141G>T) | gnomAD v4 |
8 | g.18400197G>A | CA370635364 | NAT2 | c.194G>A (p.Gly65Asp) c.-57-140G>A (n.-57-140G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.18400197G>C | CA370635363 | NAT2 | c.194G>C (p.Gly65Ala) c.-57-140G>C (n.-57-140G>C) | gnomAD v4 |
8 | g.18400197G= | CA1768218855 | NAT2 | c.194G= (p.Gly65=) c.-57-140G= (n.-57-140G=) |