| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.18400763G>A | CA4651693 | NAT2 | c.760G>A (p.Glu254Lys) c.370G>A (p.Glu124Lys) | dbSNP ExAC gnomAD COSMIC |
| 8 | g.18400763G>C | CA370636569 | NAT2 | c.760G>C (p.Glu254Gln) c.370G>C (p.Glu124Gln) | |
| 8 | g.18400763G= | CA1768219138 | NAT2 | c.760G= (p.Glu254=) c.370G= (p.Glu124=) | |
| 8 | g.18400763G>T | CA370636568 | NAT2 | c.760G>T (p.Glu254Ter) c.370G>T (p.Glu124Ter) | COSMIC |
| 8 | g.18400764A>C | CA370636570 | NAT2 | c.761A>C (p.Glu254Ala) c.371A>C (p.Glu124Ala) | |
| 8 | g.18400764A>G | CA370636572 | NAT2 | c.761A>G (p.Glu254Gly) c.371A>G (p.Glu124Gly) | |
| 8 | g.18400764A>T | CA370636571 | NAT2 | c.761A>T (p.Glu254Val) c.371A>T (p.Glu124Val) | |
| 8 | g.18400765G>A | CA173519942 | NAT2 | c.762G>A (p.Glu254=) c.372G>A (p.Glu124=) | dbSNP |
| 8 | g.18400765G>C | CA370636573 | NAT2 | c.762G>C (p.Glu254Asp) c.372G>C (p.Glu124Asp) | |
| 8 | g.18400765G= | CA1768219139 | NAT2 | c.762G= (p.Glu254=) c.372G= (p.Glu124=) | |
| 8 | g.18400765G>T | CA370636574 | NAT2 | c.762G>T (p.Glu254Asp) c.372G>T (p.Glu124Asp) | |
| 8 | g.18400765dup | CA2539107248 | NAT2 | c.762dup (p.Phe255ValfsTer2) c.372dup (p.Phe125ValfsTer2) | |
| 8 | g.18400766T>A | CA370636575 | NAT2 | c.763T>A (p.Phe255Ile) c.373T>A (p.Phe125Ile) | |
| 8 | g.18400766T>C | CA370636576 | NAT2 | c.763T>C (p.Phe255Leu) c.373T>C (p.Phe125Leu) | |
| 8 | g.18400766T>G | CA370636577 | NAT2 | c.763T>G (p.Phe255Val) c.373T>G (p.Phe125Val) | |
| 8 | g.18400767T>A | CA370636578 | NAT2 | c.764T>A (p.Phe255Tyr) c.374T>A (p.Phe125Tyr) | |
| 8 | g.18400767T>C | CA370636579 | NAT2 | c.764T>C (p.Phe255Ser) c.374T>C (p.Phe125Ser) | |
| 8 | g.18400767T>G | CA370636580 | NAT2 | c.764T>G (p.Phe255Cys) c.374T>G (p.Phe125Cys) | |
| 8 | g.18400767_18400768insCAAGCGTAAA | CA2550720478 | NAT2 | c.764_765insCAAGCGTAAA (p.Thr257ArgfsTer3) c.374_375insCAAGCGTAAA (p.Thr127ArgfsTer3) | |
| 8 | g.18400768T>A | CA370636581 | NAT2 | c.765T>A (p.Phe255Leu) c.375T>A (p.Phe125Leu) | |
| 8 | g.18400768T>C | CA459699646 | NAT2 | c.765T>C (p.Phe255=) c.375T>C (p.Phe125=) | |
| 8 | g.18400768T>G | CA370636582 | NAT2 | c.765T>G (p.Phe255Leu) c.375T>G (p.Phe125Leu) | |
| 8 | g.18400769A= | CA1768219140 | NAT2 | c.766A= (p.Lys256=) c.376A= (p.Lys126=) | |
| 8 | g.18400769A>C | CA370636584 | NAT2 | c.766A>C (p.Lys256Gln) c.376A>C (p.Lys126Gln) | |
| 8 | g.18400769A>G | CA4651694 | NAT2 | c.766A>G (p.Lys256Glu) c.376A>G (p.Lys126Glu) | dbSNP ExAC gnomAD |
| 8 | g.18400769A>T | CA370636583 | NAT2 | c.766A>T (p.Lys256Ter) c.376A>T (p.Lys126Ter) | gnomAD |
| 8 | g.18400770A>C | CA370636585 | NAT2 | c.767A>C (p.Lys256Thr) c.377A>C (p.Lys126Thr) | |
| 8 | g.18400770A>G | CA370636586 | NAT2 | c.767A>G (p.Lys256Arg) c.377A>G (p.Lys126Arg) | |
| 8 | g.18400770A>T | CA370636587 | NAT2 | c.767A>T (p.Lys256Ile) c.377A>T (p.Lys126Ile) | |
| 8 | g.18400771A>C | CA370636588 | NAT2 | c.768A>C (p.Lys256Asn) c.378A>C (p.Lys126Asn) | |
| 8 | g.18400771A>G | CA459699661 | NAT2 | c.768A>G (p.Lys256=) c.378A>G (p.Lys126=) | |
| 8 | g.18400771A>T | CA370636589 | NAT2 | c.768A>T (p.Lys256Asn) c.378A>T (p.Lys126Asn) | |
| 8 | g.18400772A= | CA1768219141 | NAT2 | c.769A= (p.Thr257=) c.379A= (p.Thr127=) | |
| 8 | g.18400772A>C | CA370636590 | NAT2 | c.769A>C (p.Thr257Pro) c.379A>C (p.Thr127Pro) | |
| 8 | g.18400772A>G | CA4651696 | NAT2 | c.769A>G (p.Thr257Ala) c.379A>G (p.Thr127Ala) | dbSNP ExAC gnomAD |
| 8 | g.18400772A>T | CA4651695 | NAT2 | c.769A>T (p.Thr257Ser) c.379A>T (p.Thr127Ser) | dbSNP ExAC gnomAD |
| 8 | g.18400772_18400774delinsACT | CA1768219142 | NAT2 | c.769_771delinsACT (p.Thr257=) c.379_381delinsACT (p.Thr127=) | |
| 8 | g.18400773C>A | CA370636591 | NAT2 | c.770C>A (p.Thr257Asn) c.380C>A (p.Thr127Asn) | |
| 8 | g.18400773C= | CA1768219143 | NAT2 | c.770C= (p.Thr257=) c.380C= (p.Thr127=) | |
| 8 | g.18400773C>G | CA4651697 | NAT2 | c.770C>G (p.Thr257Ser) c.380C>G (p.Thr127Ser) | dbSNP ExAC gnomAD |
| 8 | g.18400773C>T | CA370636592 | NAT2 | c.770C>T (p.Thr257Ile) c.380C>T (p.Thr127Ile) | |
| 8 | g.18400776_18400777del | CA580502475 | NAT2 | c.773_774del (p.Leu258HisfsTer2) c.383_384del (p.Leu128HisfsTer2) | dbSNP gnomAD |
| 8 | g.18400774T>A | CA459699679 | NAT2 | c.771T>A (p.Thr257=) c.381T>A (p.Thr127=) | |
| 8 | g.18400774T>C | CA459699680 | NAT2 | c.771T>C (p.Thr257=) c.381T>C (p.Thr127=) | |
| 8 | g.18400774T>G | CA459699683 | NAT2 | c.771T>G (p.Thr257=) c.381T>G (p.Thr127=) | |
| 8 | g.18400775C>A | CA370636594 | NAT2 | c.772C>A (p.Leu258Ile) c.382C>A (p.Leu128Ile) | |
| 8 | g.18400775C= | CA1768219144 | NAT2 | c.772C= (p.Leu258=) c.382C= (p.Leu128=) | |
| 8 | g.18400775C>G | CA4651698 | NAT2 | c.772C>G (p.Leu258Val) c.382C>G (p.Leu128Val) | dbSNP ExAC gnomAD |
| 8 | g.18400775C>T | CA370636593 | NAT2 | c.772C>T (p.Leu258Phe) c.382C>T (p.Leu128Phe) | |
| 8 | g.18400776T>A | CA370636595 | NAT2 | c.773T>A (p.Leu258His) c.383T>A (p.Leu128His) |