Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18130635T>A | CA3650076 | TPMT | c.*33A>T (n.*33A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130635T>C | CA1613545673 | TPMT | c.*33A>G (n.*33A>G) | dbSNP gnomAD v4 |
6 | g.18130635T= | CA1613545671 | TPMT | c.*33A= (n.*33A=) | |
6 | g.18130636G>T | CA2578538778 | TPMT | c.*32C>A (n.*32C>A) | |
6 | g.18130637_18130638delinsTC | CA1613545674 | TPMT | c.*30_*31delinsGA (n.*30_*31delinsGA) | |
6 | g.18130638del | CA822712294 | TPMT | c.*30del (n.*30del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18130640G>A | CA565555000 | TPMT | c.*28C>T (n.*28C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18130640G= | CA1613545678 | TPMT | c.*28C= (n.*28C=) | |
6 | g.18130640G>T | CA2677457422 | TPMT | c.*28C>A (n.*28C>A) | gnomAD v4 |
6 | g.18130641T>C | CA565555001 | TPMT | c.*27A>G (n.*27A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130641T= | CA1613545681 | TPMT | c.*27A= (n.*27A=) | |
6 | g.18130642G>T | CA2677457424 | TPMT | c.*26C>A (n.*26C>A) | gnomAD v4 |
6 | g.18130644_18130649delinsGATTTT | CA1613545684 | TPMT | c.*19_*24delinsAAAATC (n.*19_*24delinsAAAATC) | |
6 | g.18130645A= | CA1613545687 | TPMT | c.*23T= (n.*23T=) | |
6 | g.18130645A>C | CA134961543 | TPMT | c.*23T>G (n.*23T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130652_18130656del | CA565555002 | TPMT | c.*19_*23del (n.*19_*23del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130646T>G | CA2677457431 | TPMT | c.*22A>C (n.*22A>C) | gnomAD v4 |
6 | g.18130649del | CA2677457429 | TPMT | c.*22del (n.*22del) | gnomAD v4 |
6 | g.18130647T>A | CA2677457433 | TPMT | c.*21A>T (n.*21A>T) | gnomAD v4 |
6 | g.18130649T>C | CA565555004 | TPMT | c.*19A>G (n.*19A>G) | dbSNP gnomAD v2 |
6 | g.18130649T= | CA1613545691 | TPMT | c.*19A= (n.*19A=) | |
6 | g.18130650A>G | CA2578538779 | TPMT | c.*18T>C (n.*18T>C) | |
6 | g.18130651T>C | CA3650077 | TPMT | c.*17A>G (n.*17A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18130651T= | CA1613545694 | TPMT | c.*17A= (n.*17A=) | |
6 | g.18130656T>C | CA3650078 | TPMT | c.*12A>G (n.*12A>G) | dbSNP ExAC gnomAD v2 |
6 | g.18130656T= | CA1613545695 | TPMT | c.*12A= (n.*12A=) | |
6 | g.18130657C= | CA1613545697 | TPMT | c.*11G= (n.*11G=) | |
6 | g.18130657C>T | CA822712309 | TPMT | c.*11G>A (n.*11G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18130659_18130660del | CA2677457435 | TPMT | c.*9_*10del (n.*9_*10del) | gnomAD v4 |
6 | g.18130660T>C | CA565555006 | TPMT | c.*8A>G (n.*8A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130660T= | CA1613545700 | TPMT | c.*8A= (n.*8A=) | |
6 | g.18130661G= | CA1613545703 | TPMT | c.*7C= (n.*7C=) | |
6 | g.18130661G>T | CA565555007 | TPMT | c.*7C>A (n.*7C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18130663C>T | CA2677457437 | TPMT | c.*5G>A (n.*5G>A) | gnomAD v4 |
6 | g.18130664T>C | CA2677457439 | TPMT | c.*4A>G (n.*4A>G) | gnomAD v4 |
6 | g.18130665C>A | CA2580577648 | TPMT | c.*3G>T (n.*3G>T) | dbSNP |
6 | g.18130665C= | CA1613545705 | TPMT | c.*3G= (n.*3G=) | |
6 | g.18130665C>G | CA2580577649 | TPMT | c.*3G>C (n.*3G>C) | |
6 | g.18130665C>T | CA3650079 | TPMT | c.*3G>A (n.*3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18130667T>A | CA822712320 | TPMT | c.*1A>T (n.*1A>T) | dbSNP |
6 | g.18130667T>C | CA822712318 | TPMT | c.*1A>G (n.*1A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18130667T= | CA1613545707 | TPMT | c.*1A= (n.*1A=) | |
6 | g.18130668T>A | CA362832058 | TPMT | c.738A>T (p.Ter246Tyr) c.693A>T (p.Ter231Tyr) c.669A>T (p.Ter223Tyr) | |
6 | g.18130668T>C | CA448764651 | TPMT | c.738A>G (p.Ter246=) c.693A>G (p.Ter231=) c.669A>G (p.Ter223=) | dbSNP |
6 | g.18130668T>G | CA362832060 | TPMT | c.738A>C (p.Ter246Tyr) c.693A>C (p.Ter231Tyr) c.669A>C (p.Ter223Tyr) | |
6 | g.18130668T= | CA1613545713 | TPMT | c.738A= (p.Ter246=) c.693A= (p.Ter231=) c.669A= (p.Ter223=) | |
6 | g.18130669T>A | CA362832062 | TPMT | c.737A>T (p.Ter246Leu) c.692A>T (p.Ter231Leu) c.668A>T (p.Ter223Leu) | |
6 | g.18130669T>C | CA448764652 | TPMT | c.737A>G (p.Ter246=) c.692A>G (p.Ter231=) c.668A>G (p.Ter223=) | gnomAD v4 |
6 | g.18130669T>G | CA362832065 | TPMT | c.737A>C (p.Ter246Ser) c.692A>C (p.Ter231Ser) c.668A>C (p.Ter223Ser) | |
6 | g.18130670del | CA2677457447 | TPMT | c.736del (p.Ter246LysextTer2) c.691del (p.Ter231LysextTer2) c.667del (p.Ter223LysextTer2) | gnomAD v4 |