| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 8 | g.18400197G>T | CA173519898 | NAT2 | c.194G>T (p.Gly65Val) c.-57-140G>T (n.-57-140G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400198T>A | CA459881051 | NAT2 | c.195T>A (p.Gly65=) c.-57-139T>A (n.-57-139T>A) | |
| 8 | g.18400198T>C | CA459881052 | NAT2 | c.195T>C (p.Gly65=) c.-57-139T>C (n.-57-139T>C) | |
| 8 | g.18400198T>G | CA459881053 | NAT2 | c.195T>G (p.Gly65=) c.-57-139T>G (n.-57-139T>G) | |
| 8 | g.18400199G>A | CA370635365 | NAT2 | c.196G>A (p.Gly66Arg) c.-57-138G>A (n.-57-138G>A) | gnomAD v4 |
| 8 | g.18400199G>C | CA370635366 | NAT2 | c.196G>C (p.Gly66Arg) c.-57-138G>C (n.-57-138G>C) | |
| 8 | g.18400199G>T | CA370635367 | NAT2 | c.196G>T (p.Gly66Trp) c.-57-138G>T (n.-57-138G>T) | |
| 8 | g.18400200G>A | CA370635368 | NAT2 | c.197G>A (p.Gly66Glu) c.-57-137G>A (n.-57-137G>A) | gnomAD v4 COSMIC |
| 8 | g.18400200G>C | CA370635369 | NAT2 | c.197G>C (p.Gly66Ala) c.-57-137G>C (n.-57-137G>C) | |
| 8 | g.18400200G>T | CA370635370 | NAT2 | c.197G>T (p.Gly66Val) c.-57-137G>T (n.-57-137G>T) | |
| 8 | g.18400201G>A | CA4651570 | NAT2 | c.198G>A (p.Gly66=) c.-57-136G>A (n.-57-136G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400201G>C | CA459881054 | NAT2 | c.198G>C (p.Gly66=) c.-57-136G>C (n.-57-136G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400201G= | CA1768218856 | NAT2 | c.198G= (p.Gly66=) c.-57-136G= (n.-57-136G=) | |
| 8 | g.18400201G>T | CA459881055 | NAT2 | c.198G>T (p.Gly66=) c.-57-136G>T (n.-57-136G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400202T>A | CA370635371 | NAT2 | c.199T>A (p.Trp67Arg) c.-57-135T>A (n.-57-135T>A) | |
| 8 | g.18400202T>C | CA173519899 | NAT2 | c.199T>C (p.Trp67Arg) c.-57-135T>C (n.-57-135T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.18400202T>G | CA370635372 | NAT2 | c.199T>G (p.Trp67Gly) c.-57-135T>G (n.-57-135T>G) | |
| 8 | g.18400202T= | CA1768218857 | NAT2 | c.199T= (p.Trp67=) c.-57-135T= (n.-57-135T=) | |
| 8 | g.18400203G>A | CA370635373 | NAT2 | c.200G>A (p.Trp67Ter) c.-57-134G>A (n.-57-134G>A) | gnomAD v4 COSMIC |