Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400620A>C | CA370636270 | NAT2 | c.617A>C (p.Asn206Thr) c.227A>C (p.Asn76Thr) | |
8 | g.18400620A>G | CA370636271 | NAT2 | c.617A>G (p.Asn206Ser) c.227A>G (p.Asn76Ser) | |
8 | g.18400620A>T | CA370636272 | NAT2 | c.617A>T (p.Asn206Ile) c.227A>T (p.Asn76Ile) | |
8 | g.18400621T>A | CA370636273 | NAT2 | c.618T>A (p.Asn206Lys) c.228T>A (p.Asn76Lys) | |
8 | g.18400621T>C | CA459881288 | NAT2 | c.618T>C (p.Asn206=) c.228T>C (p.Asn76=) | gnomAD v4 |
8 | g.18400621T>G | CA370636274 | NAT2 | c.618T>G (p.Asn206Lys) c.228T>G (p.Asn76Lys) | |
8 | g.18400622A>C | CA370636277 | NAT2 | c.619A>C (p.Thr207Pro) c.229A>C (p.Thr77Pro) | |
8 | g.18400622A>G | CA370636276 | NAT2 | c.619A>G (p.Thr207Ala) c.229A>G (p.Thr77Ala) | |
8 | g.18400622A>T | CA370636275 | NAT2 | c.619A>T (p.Thr207Ser) c.229A>T (p.Thr77Ser) | |
8 | g.18400623C>A | CA370636278 | NAT2 | c.620C>A (p.Thr207Lys) c.230C>A (p.Thr77Lys) | |
8 | g.18400623C>G | CA370636279 | NAT2 | c.620C>G (p.Thr207Arg) c.230C>G (p.Thr77Arg) | |
8 | g.18400623C>T | CA370636280 | NAT2 | c.620C>T (p.Thr207Ile) c.230C>T (p.Thr77Ile) | |
8 | g.18400624A>C | CA459881289 | NAT2 | c.621A>C (p.Thr207=) c.231A>C (p.Thr77=) | |
8 | g.18400624A>G | CA459881290 | NAT2 | c.621A>G (p.Thr207=) c.231A>G (p.Thr77=) | gnomAD v4 |
8 | g.18400624A>T | CA459881291 | NAT2 | c.621A>T (p.Thr207=) c.231A>T (p.Thr77=) | |
8 | g.18400625T>A | CA370636281 | NAT2 | c.622T>A (p.Tyr208Asn) c.232T>A (p.Tyr78Asn) | |
8 | g.18400625T>C | CA4651663 | NAT2 | c.622T>C (p.Tyr208His) c.232T>C (p.Tyr78His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400625T>G | CA370636282 | NAT2 | c.622T>G (p.Tyr208Asp) c.232T>G (p.Tyr78Asp) | |
8 | g.18400625T= | CA1768219073 | NAT2 | c.622T= (p.Tyr208=) c.232T= (p.Tyr78=) | |
8 | g.18400626A= | CA1768219074 | NAT2 | c.623A= (p.Tyr208=) c.233A= (p.Tyr78=) | |
8 | g.18400626A>C | CA370636283 | NAT2 | c.623A>C (p.Tyr208Ser) c.233A>C (p.Tyr78Ser) | |
8 | g.18400626A>G | CA370636285 | NAT2 | c.623A>G (p.Tyr208Cys) c.233A>G (p.Tyr78Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18400626A>T | CA370636284 | NAT2 | c.623A>T (p.Tyr208Phe) c.233A>T (p.Tyr78Phe) | |
8 | g.18400627C>A | CA370636286 | NAT2 | c.624C>A (p.Tyr208Ter) c.234C>A (p.Tyr78Ter) | |
8 | g.18400627C>G | CA370636287 | NAT2 | c.624C>G (p.Tyr208Ter) c.234C>G (p.Tyr78Ter) | |
8 | g.18400627C>T | CA459881292 | NAT2 | c.624C>T (p.Tyr208=) c.234C>T (p.Tyr78=) | |
8 | g.18400628del | CA2779261289 | NAT2 | c.625del (p.Leu209CysfsTer10) c.235del (p.Leu79CysfsTer10) | |
8 | g.18400628C>A | CA370636288 | NAT2 | c.625C>A (p.Leu209Met) c.235C>A (p.Leu79Met) | |
8 | g.18400628C= | CA1768219075 | NAT2 | c.625C= (p.Leu209=) c.235C= (p.Leu79=) | |
8 | g.18400628C>G | CA370636289 | NAT2 | c.625C>G (p.Leu209Val) c.235C>G (p.Leu79Val) | |
8 | g.18400628C>T | CA4651664 | NAT2 | c.625C>T (p.Leu209=) c.235C>T (p.Leu79=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18400629T>A | CA370636290 | NAT2 | c.626T>A (p.Leu209Gln) c.236T>A (p.Leu79Gln) | |
8 | g.18400629T>C | CA370636292 | NAT2 | c.626T>C (p.Leu209Pro) c.236T>C (p.Leu79Pro) | dbSNP gnomAD v4 |
8 | g.18400629T>G | CA370636291 | NAT2 | c.626T>G (p.Leu209Arg) c.236T>G (p.Leu79Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400629T= | CA1768219076 | NAT2 | c.626T= (p.Leu209=) c.236T= (p.Leu79=) | |
8 | g.18400630G>A | CA459881293 | NAT2 | c.627G>A (p.Leu209=) c.237G>A (p.Leu79=) | |
8 | g.18400630G>C | CA459881294 | NAT2 | c.627G>C (p.Leu209=) c.237G>C (p.Leu79=) | |
8 | g.18400630G>T | CA459881295 | NAT2 | c.627G>T (p.Leu209=) c.237G>T (p.Leu79=) | COSMIC |
8 | g.18400631C>A | CA370636293 | NAT2 | c.628C>A (p.Gln210Lys) c.238C>A (p.Gln80Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400631C= | CA1768219077 | NAT2 | c.628C= (p.Gln210=) c.238C= (p.Gln80=) | |
8 | g.18400631C>G | CA370636294 | NAT2 | c.628C>G (p.Gln210Glu) c.238C>G (p.Gln80Glu) | |
8 | g.18400631C>T | CA370636295 | NAT2 | c.628C>T (p.Gln210Ter) c.238C>T (p.Gln80Ter) | |
8 | g.18400632A>C | CA370636296 | NAT2 | c.629A>C (p.Gln210Pro) c.239A>C (p.Gln80Pro) | |
8 | g.18400632A>G | CA370636297 | NAT2 | c.629A>G (p.Gln210Arg) c.239A>G (p.Gln80Arg) | |
8 | g.18400632A>T | CA370636298 | NAT2 | c.629A>T (p.Gln210Leu) c.239A>T (p.Gln80Leu) | |
8 | g.18400633G>A | CA459881296 | NAT2 | c.630G>A (p.Gln210=) c.240G>A (p.Gln80=) | gnomAD v4 |
8 | g.18400633G>C | CA370636299 | NAT2 | c.630G>C (p.Gln210His) c.240G>C (p.Gln80His) | |
8 | g.18400633G>T | CA370636300 | NAT2 | c.630G>T (p.Gln210His) c.240G>T (p.Gln80His) | |
8 | g.18400634A>C | CA370636301 | NAT2 | c.631A>C (p.Thr211Pro) c.241A>C (p.Thr81Pro) | |
8 | g.18400634A>G | CA370636302 | NAT2 | c.631A>G (p.Thr211Ala) c.241A>G (p.Thr81Ala) |