| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.18130702del | CA645551455 | TPMT | c.708del (p.Phe236LeufsTer12) c.663del (p.Phe221LeufsTer12) c.639del (p.Phe213LeufsTer12) | COSMIC |
| 6 | g.18130699A>C | CA362832174 | TPMT | c.707T>G (p.Phe236Cys) c.662T>G (p.Phe221Cys) c.638T>G (p.Phe213Cys) | |
| 6 | g.18130699A>G | CA362832178 | TPMT | c.707T>C (p.Phe236Ser) c.662T>C (p.Phe221Ser) c.638T>C (p.Phe213Ser) | gnomAD v4 |
| 6 | g.18130699A>T | CA362832176 | TPMT | c.707T>A (p.Phe236Tyr) c.662T>A (p.Phe221Tyr) c.638T>A (p.Phe213Tyr) | |
| 6 | g.18130700_18130706del | CA448764670 | TPMT | c.701_707del (p.Cys234LeufsTer12) c.656_662del (p.Cys219LeufsTer12) c.632_638del (p.Cys211LeufsTer12) | |
| 6 | g.18130700A>C | CA362832180 | TPMT | c.706T>G (p.Phe236Val) c.661T>G (p.Phe221Val) c.637T>G (p.Phe213Val) | |
| 6 | g.18130700A>G | CA362832182 | TPMT | c.706T>C (p.Phe236Leu) c.661T>C (p.Phe221Leu) c.637T>C (p.Phe213Leu) | |
| 6 | g.18130700A>T | CA362832184 | TPMT | c.706T>A (p.Phe236Ile) c.661T>A (p.Phe221Ile) c.637T>A (p.Phe213Ile) | |
| 6 | g.18130701A= | CA1613545746 | TPMT | c.705T= (p.Leu235=) c.660T= (p.Leu220=) c.636T= (p.Leu212=) | |
| 6 | g.18130701A>C | CA448764671 | TPMT | c.705T>G (p.Leu235=) c.660T>G (p.Leu220=) c.636T>G (p.Leu212=) | |
| 6 | g.18130701A>G | CA448764672 | TPMT | c.705T>C (p.Leu235=) c.660T>C (p.Leu220=) c.636T>C (p.Leu212=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130701A>T | CA448764673 | TPMT | c.705T>A (p.Leu235=) c.660T>A (p.Leu220=) c.636T>A (p.Leu212=) | |
| 6 | g.18130702A= | CA1613545748 | TPMT | c.704T= (p.Leu235=) c.659T= (p.Leu220=) c.635T= (p.Leu212=) | |
| 6 | g.18130702A>C | CA362832186 | TPMT | c.704T>G (p.Leu235Arg) c.659T>G (p.Leu220Arg) c.635T>G (p.Leu212Arg) | |
| 6 | g.18130702A>G | CA3650082 | TPMT | c.704T>C (p.Leu235Pro) c.659T>C (p.Leu220Pro) c.635T>C (p.Leu212Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130702A>T | CA362832188 | TPMT | c.704T>A (p.Leu235His) c.659T>A (p.Leu220His) c.635T>A (p.Leu212His) | gnomAD v4 |
| 6 | g.18130703G>A | CA362832190 | TPMT | c.703C>T (p.Leu235Phe) c.658C>T (p.Leu220Phe) c.634C>T (p.Leu212Phe) | |
| 6 | g.18130703G>C | CA362832192 | TPMT | c.703C>G (p.Leu235Val) c.658C>G (p.Leu220Val) c.634C>G (p.Leu212Val) | |
| 6 | g.18130703G>T | CA362832194 | TPMT | c.703C>A (p.Leu235Ile) c.658C>A (p.Leu220Ile) c.634C>A (p.Leu212Ile) | gnomAD v4 |
| 6 | g.18130704A>C | CA362832196 | TPMT | c.702T>G (p.Cys234Trp) c.657T>G (p.Cys219Trp) c.633T>G (p.Cys211Trp) | |
| 6 | g.18130704A>G | CA448764674 | TPMT | c.702T>C (p.Cys234=) c.657T>C (p.Cys219=) c.633T>C (p.Cys211=) | |
| 6 | g.18130704A>T | CA362832197 | TPMT | c.702T>A (p.Cys234Ter) c.657T>A (p.Cys219Ter) c.633T>A (p.Cys211Ter) | |
| 6 | g.18130705C>A | CA362832205 | TPMT | c.701G>T (p.Cys234Phe) c.656G>T (p.Cys219Phe) c.632G>T (p.Cys211Phe) | gnomAD v4 |
| 6 | g.18130705C= | CA1613545753 | TPMT | c.701G= (p.Cys234=) c.656G= (p.Cys219=) c.632G= (p.Cys211=) | |
| 6 | g.18130705C>G | CA362832202 | TPMT | c.701G>C (p.Cys234Ser) c.656G>C (p.Cys219Ser) c.632G>C (p.Cys211Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130705C>T | CA362832201 | TPMT | c.701G>A (p.Cys234Tyr) c.656G>A (p.Cys219Tyr) c.632G>A (p.Cys211Tyr) | dbSNP gnomAD v4 COSMIC |
| 6 | g.18130706A>C | CA362832207 | TPMT | c.700T>G (p.Cys234Gly) c.655T>G (p.Cys219Gly) c.631T>G (p.Cys211Gly) | |
| 6 | g.18130706A>G | CA362832209 | TPMT | c.700T>C (p.Cys234Arg) c.655T>C (p.Cys219Arg) c.631T>C (p.Cys211Arg) | |
| 6 | g.18130706A>T | CA362832211 | TPMT | c.700T>A (p.Cys234Ser) c.655T>A (p.Cys219Ser) c.631T>A (p.Cys211Ser) | |
| 6 | g.18130707G>A | CA448764675 | TPMT | c.699C>T (p.Asp233=) c.654C>T (p.Asp218=) c.630C>T (p.Asp210=) | gnomAD v4 |
| 6 | g.18130707G>C | CA3650083 | TPMT | c.699C>G (p.Asp233Glu) c.654C>G (p.Asp218Glu) c.630C>G (p.Asp210Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130707G= | CA1613545758 | TPMT | c.699C= (p.Asp233=) c.654C= (p.Asp218=) c.630C= (p.Asp210=) | |
| 6 | g.18130707G>T | CA362832214 | TPMT | c.699C>A (p.Asp233Glu) c.654C>A (p.Asp218Glu) c.630C>A (p.Asp210Glu) | |
| 6 | g.18130708T>A | CA362832216 | TPMT | c.698A>T (p.Asp233Val) c.653A>T (p.Asp218Val) c.629A>T (p.Asp210Val) | |
| 6 | g.18130708T>C | CA362832217 | TPMT | c.698A>G (p.Asp233Gly) c.653A>G (p.Asp218Gly) c.629A>G (p.Asp210Gly) | |
| 6 | g.18130708T>G | CA362832220 | TPMT | c.698A>C (p.Asp233Ala) c.653A>C (p.Asp218Ala) c.629A>C (p.Asp210Ala) | |
| 6 | g.18130709C>A | CA362832222 | TPMT | c.697G>T (p.Asp233Tyr) c.652G>T (p.Asp218Tyr) c.628G>T (p.Asp210Tyr) | gnomAD v4 |
| 6 | g.18130709C= | CA1613545761 | TPMT | c.697G= (p.Asp233=) c.652G= (p.Asp218=) c.628G= (p.Asp210=) | |
| 6 | g.18130709C>G | CA3650084 | TPMT | c.697G>C (p.Asp233His) c.652G>C (p.Asp218His) c.628G>C (p.Asp210His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130709C>T | CA362832223 | TPMT | c.697G>A (p.Asp233Asn) c.652G>A (p.Asp218Asn) c.628G>A (p.Asp210Asn) | dbSNP gnomAD v4 |
| 6 | g.18130710A>C | CA362832224 | TPMT | c.696T>G (p.Ile232Met) c.651T>G (p.Ile217Met) c.627T>G (p.Ile209Met) | |
| 6 | g.18130710A>G | CA448764676 | TPMT | c.696T>C (p.Ile232=) c.651T>C (p.Ile217=) c.627T>C (p.Ile209=) | |
| 6 | g.18130710A>T | CA448764677 | TPMT | c.696T>A (p.Ile232=) c.651T>A (p.Ile217=) c.627T>A (p.Ile209=) | |
| 6 | g.18130711A>C | CA362832231 | TPMT | c.695T>G (p.Ile232Ser) c.650T>G (p.Ile217Ser) c.626T>G (p.Ile209Ser) | |
| 6 | g.18130711A>G | CA362832230 | TPMT | c.695T>C (p.Ile232Thr) c.650T>C (p.Ile217Thr) c.626T>C (p.Ile209Thr) | |
| 6 | g.18130711A>T | CA362832227 | TPMT | c.695T>A (p.Ile232Asn) c.650T>A (p.Ile217Asn) c.626T>A (p.Ile209Asn) | |
| 6 | g.18130712T>A | CA362832232 | TPMT | c.694A>T (p.Ile232Phe) c.649A>T (p.Ile217Phe) c.625A>T (p.Ile209Phe) | |
| 6 | g.18130712T>C | CA362832233 | TPMT | c.694A>G (p.Ile232Val) c.649A>G (p.Ile217Val) c.625A>G (p.Ile209Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130712T>G | CA362832234 | TPMT | c.694A>C (p.Ile232Leu) c.649A>C (p.Ile217Leu) c.625A>C (p.Ile209Leu) | gnomAD v4 |
| 6 | g.18130712T= | CA1613545764 | TPMT | c.694A= (p.Ile232=) c.649A= (p.Ile217=) c.625A= (p.Ile209=) |