UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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=) | |
| 6 | g.18130713T>A | CA448764680 | TPMT | c.693A>T (p.Gly231=) c.648A>T (p.Gly216=) c.624A>T (p.Gly208=) | |
| 6 | g.18130713T>C | CA448764678 | TPMT | c.693A>G (p.Gly231=) c.648A>G (p.Gly216=) c.624A>G (p.Gly208=) | |
| 6 | g.18130713T>G | CA448764679 | TPMT | c.693A>C (p.Gly231=) c.648A>C (p.Gly216=) c.624A>C (p.Gly208=) | |
| 6 | g.18130714C>A | CA3650085 | TPMT | c.692G>T (p.Gly231Val) c.647G>T (p.Gly216Val) c.623G>T (p.Gly208Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130714C= | CA1613545766 | TPMT | c.692G= (p.Gly231=) c.647G= (p.Gly216=) c.623G= (p.Gly208=) | |
| 6 | g.18130714C>G | CA362832237 | TPMT | c.692G>C (p.Gly231Ala) c.647G>C (p.Gly216Ala) c.623G>C (p.Gly208Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130714C>T | CA362832238 | TPMT | c.692G>A (p.Gly231Glu) c.647G>A (p.Gly216Glu) c.623G>A (p.Gly208Glu) | |
| 6 | g.18130715C>A | CA362832241 | TPMT | c.691G>T (p.Gly231Ter) c.646G>T (p.Gly216Ter) c.622G>T (p.Gly208Ter) | |
| 6 | g.18130715C>G | CA362832243 | TPMT | c.691G>C (p.Gly231Arg) c.646G>C (p.Gly216Arg) c.622G>C (p.Gly208Arg) | |
| 6 | g.18130715C>T | CA362832245 | TPMT | c.691G>A (p.Gly231Arg) c.646G>A (p.Gly216Arg) c.622G>A (p.Gly208Arg) | gnomAD v4 |
| 6 | g.18130716C>A | CA362832247 | TPMT | c.690G>T (p.Trp230Cys) c.645G>T (p.Trp215Cys) c.621G>T (p.Trp207Cys) | |
| 6 | g.18130716C>G | CA362832249 | TPMT | c.690G>C (p.Trp230Cys) c.645G>C (p.Trp215Cys) c.621G>C (p.Trp207Cys) | ClinVar gnomAD v4 |
| 6 | g.18130716C>T | CA362832251 | TPMT | c.690G>A (p.Trp230Ter) c.645G>A (p.Trp215Ter) c.621G>A (p.Trp207Ter) | |
| 6 | g.18130717C>A | CA362832257 | TPMT | c.689G>T (p.Trp230Leu) c.644G>T (p.Trp215Leu) c.620G>T (p.Trp207Leu) | |
| 6 | g.18130717C>G | CA362832260 | TPMT | c.689G>C (p.Trp230Ser) c.644G>C (p.Trp215Ser) c.620G>C (p.Trp207Ser) | |
| 6 | g.18130717C>T | CA362832254 | TPMT | c.689G>A (p.Trp230Ter) c.644G>A (p.Trp215Ter) c.620G>A (p.Trp207Ter) | |
| 6 | g.18130718A>C | CA362832262 | TPMT | c.688T>G (p.Trp230Gly) c.643T>G (p.Trp215Gly) c.619T>G (p.Trp207Gly) | |
| 6 | g.18130718A>G | CA362832265 | TPMT | c.688T>C (p.Trp230Arg) c.643T>C (p.Trp215Arg) c.619T>C (p.Trp207Arg) | |
| 6 | g.18130718A>T | CA362832269 | TPMT | c.688T>A (p.Trp230Arg) c.643T>A (p.Trp215Arg) c.619T>A (p.Trp207Arg) | |
| 6 | g.18130719A>C | CA362832272 | TPMT | c.687T>G (p.Ser229Arg) c.642T>G (p.Ser214Arg) c.618T>G (p.Ser206Arg) | |
| 6 | g.18130719A>G | CA448764683 | TPMT | c.687T>C (p.Ser229=) c.642T>C (p.Ser214=) c.618T>C (p.Ser206=) | |
| 6 | g.18130719A>T | CA362832273 | TPMT | c.687T>A (p.Ser229Arg) c.642T>A (p.Ser214Arg) c.618T>A (p.Ser206Arg) | |
| 6 | g.18130720C>A | CA362832287 | TPMT | c.686G>T (p.Ser229Ile) c.641G>T (p.Ser214Ile) c.617G>T (p.Ser206Ile) | |
| 6 | g.18130720C>G | CA362832277 | TPMT | c.686G>C (p.Ser229Thr) c.641G>C (p.Ser214Thr) c.617G>C (p.Ser206Thr) | |
| 6 | g.18130720C>T | CA362832281 | TPMT | c.686G>A (p.Ser229Asn) c.641G>A (p.Ser214Asn) c.617G>A (p.Ser206Asn) | |
| 6 | g.18130721T>A | CA362832291 | TPMT | c.685A>T (p.Ser229Cys) c.640A>T (p.Ser214Cys) c.616A>T (p.Ser206Cys) | |
| 6 | g.18130721T>C | CA362832293 | TPMT | c.685A>G (p.Ser229Gly) c.640A>G (p.Ser214Gly) c.616A>G (p.Ser206Gly) | |
| 6 | g.18130721T>G | CA362832295 | TPMT | c.685A>C (p.Ser229Arg) c.640A>C (p.Ser214Arg) c.616A>C (p.Ser206Arg) | |
| 6 | g.18130722T>A | CA362832300 | TPMT | c.684A>T (p.Lys228Asn) c.639A>T (p.Lys213Asn) c.615A>T (p.Lys205Asn) | gnomAD v4 |
| 6 | g.18130722T>C | CA448764684 | TPMT | c.684A>G (p.Lys228=) c.639A>G (p.Lys213=) c.615A>G (p.Lys205=) | |
| 6 | g.18130722T>G | CA362832303 | TPMT | c.684A>C (p.Lys228Asn) c.639A>C (p.Lys213Asn) c.615A>C (p.Lys205Asn) | |
| 6 | g.18130723T>A | CA362832306 | TPMT | c.683A>T (p.Lys228Ile) c.638A>T (p.Lys213Ile) c.614A>T (p.Lys205Ile) | |
| 6 | g.18130723T>C | CA362832312 | TPMT | c.683A>G (p.Lys228Arg) c.638A>G (p.Lys213Arg) c.614A>G (p.Lys205Arg) | |
| 6 | g.18130723T>G | CA362832309 | TPMT | c.683A>C (p.Lys228Thr) c.638A>C (p.Lys213Thr) c.614A>C (p.Lys205Thr) | |
| 6 | g.18130724T>A | CA362832316 | TPMT | c.682A>T (p.Lys228Ter) c.637A>T (p.Lys213Ter) c.613A>T (p.Lys205Ter) | dbSNP gnomAD v4 |
| 6 | g.18130724T>C | CA362832322 | TPMT | c.682A>G (p.Lys228Glu) c.637A>G (p.Lys213Glu) c.613A>G (p.Lys205Glu) | |
| 6 | g.18130724T>G | CA362832319 | TPMT | c.682A>C (p.Lys228Gln) c.637A>C (p.Lys213Gln) c.613A>C (p.Lys205Gln) | |
| 6 | g.18130724T= | CA1613545770 | TPMT | c.682A= (p.Lys228=) c.637A= (p.Lys213=) c.613A= (p.Lys205=) | |
| 6 | g.18130725A= | CA1613545778 | TPMT | c.681T= (p.His227=) c.636T= (p.His212=) c.612T= (p.His204=) | |
| 6 | g.18130725A>C | CA134961554 | TPMT | c.681T>G (p.His227Gln) c.636T>G (p.His212Gln) c.612T>G (p.His204Gln) | dbSNP |
| 6 | g.18130725A>G | CA448764688 | TPMT | c.681T>C (p.His227=) c.636T>C (p.His212=) c.612T>C (p.His204=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130725A>T | CA3650086 | TPMT | c.681T>A (p.His227Gln) c.636T>A (p.His212Gln) c.612T>A (p.His204Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130726T>A | CA362832327 | TPMT | c.680A>T (p.His227Leu) c.635A>T (p.His212Leu) c.611A>T (p.His204Leu) | |
| 6 | g.18130726T>C | CA362832330 | TPMT | c.680A>G (p.His227Arg) c.635A>G (p.His212Arg) c.611A>G (p.His204Arg) | |
| 6 | g.18130726T>G | CA3650087 | TPMT | c.680A>C (p.His227Pro) c.635A>C (p.His212Pro) c.611A>C (p.His204Pro) | dbSNP ExAC gnomAD v2 |
| 6 | g.18130726T= | CA1613545782 | TPMT | c.680A= (p.His227=) c.635A= (p.His212=) c.611A= (p.His204=) | |
| 6 | g.18130727G>A | CA362832342 | TPMT | c.679C>T (p.His227Tyr) c.634C>T (p.His212Tyr) c.610C>T (p.His204Tyr) | dbSNP |
| 6 | g.18130727G>C | CA362832344 | TPMT | c.679C>G (p.His227Asp) c.634C>G (p.His212Asp) c.610C>G (p.His204Asp) | |
| 6 | g.18130727G= | CA1613545786 | TPMT | c.679C= (p.His227=) c.634C= (p.His212=) c.610C= (p.His204=) | |
| 6 | g.18130727G>T | CA362832345 | TPMT | c.679C>A (p.His227Asn) c.634C>A (p.His212Asn) c.610C>A (p.His204Asn) | |
| 6 | g.18130728T>A | CA448764691 | TPMT | c.678A>T (p.Arg226=) c.633A>T (p.Arg211=) c.609A>T (p.Arg203=) | |
| 6 | g.18130728T>C | CA448764692 | TPMT | c.678A>G (p.Arg226=) c.633A>G (p.Arg211=) c.609A>G (p.Arg203=) | |
| 6 | g.18130728T>G | CA448764693 | TPMT | c.678A>C (p.Arg226=) c.633A>C (p.Arg211=) c.609A>C (p.Arg203=) | |
| 6 | g.18130729C>A | CA362832347 | TPMT | c.677G>T (p.Arg226Leu) c.632G>T (p.Arg211Leu) c.608G>T (p.Arg203Leu) | |
| 6 | g.18130729C= | CA1613545791 | TPMT | c.677G= (p.Arg226=) c.632G= (p.Arg211=) c.608G= (p.Arg203=) | |
| 6 | g.18130729C>G | CA362832349 | TPMT | c.677G>C (p.Arg226Pro) c.632G>C (p.Arg211Pro) c.608G>C (p.Arg203Pro) | |
| 6 | g.18130729C>T | CA3650088 | TPMT | c.677G>A (p.Arg226Gln) c.632G>A (p.Arg211Gln) c.608G>A (p.Arg203Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130730G>A | CA3650089 | TPMT | c.676C>T (p.Arg226Ter) c.631C>T (p.Arg211Ter) c.607C>T (p.Arg203Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130730G>C | CA362832353 | TPMT | c.676C>G (p.Arg226Gly) c.631C>G (p.Arg211Gly) c.607C>G (p.Arg203Gly) | |
| 6 | g.18130730G= | CA1613545793 | TPMT | c.676C= (p.Arg226=) c.631C= (p.Arg211=) c.607C= (p.Arg203=) | |
| 6 | g.18130730G>T | CA448764695 | TPMT | c.676C>A (p.Arg226=) c.631C>A (p.Arg211=) c.607C>A (p.Arg203=) | |
| 6 | g.18130731T>A | CA362832357 | TPMT | c.675A>T (p.Glu225Asp) c.630A>T (p.Glu210Asp) c.606A>T (p.Glu202Asp) | |
| 6 | g.18130731T>C | CA448764697 | TPMT | c.675A>G (p.Glu225=) c.630A>G (p.Glu210=) c.606A>G (p.Glu202=) | dbSNP |
| 6 | g.18130731T>G | CA362832367 | TPMT | c.675A>C (p.Glu225Asp) c.630A>C (p.Glu210Asp) c.606A>C (p.Glu202Asp) | |
| 6 | g.18130732T>A | CA362832370 | TPMT | c.674A>T (p.Glu225Val) c.629A>T (p.Glu210Val) c.605A>T (p.Glu202Val) | |
| 6 | g.18130732T>C | CA362832377 | TPMT | c.674A>G (p.Glu225Gly) c.629A>G (p.Glu210Gly) c.605A>G (p.Glu202Gly) | |
| 6 | g.18130732T>G | CA362832372 | TPMT | c.674A>C (p.Glu225Ala) c.629A>C (p.Glu210Ala) c.605A>C (p.Glu202Ala) | |
| 6 | g.18130733C>A | CA362832381 | TPMT | c.673G>T (p.Glu225Ter) c.628G>T (p.Glu210Ter) c.604G>T (p.Glu202Ter) | |
| 6 | g.18130733C= | CA1613545795 | TPMT | c.673G= (p.Glu225=) c.628G= (p.Glu210=) c.604G= (p.Glu202=) | |
| 6 | g.18130733C>G | CA362832383 | TPMT | c.673G>C (p.Glu225Gln) c.628G>C (p.Glu210Gln) c.604G>C (p.Glu202Gln) | |
| 6 | g.18130733C>T | CA362832384 | TPMT | c.673G>A (p.Glu225Lys) c.628G>A (p.Glu210Lys) c.604G>A (p.Glu202Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130734T>A | CA362832386 | TPMT | c.672A>T (p.Glu224Asp) c.627A>T (p.Glu209Asp) c.603A>T (p.Glu201Asp) | |
| 6 | g.18130734T>C | CA448764701 | TPMT | c.672A>G (p.Glu224=) c.627A>G (p.Glu209=) c.603A>G (p.Glu201=) | |
| 6 | g.18130734T>G | CA362832389 | TPMT | c.672A>C (p.Glu224Asp) c.627A>C (p.Glu209Asp) c.603A>C (p.Glu201Asp) | |
| 6 | g.18130735T>A | CA362832392 | TPMT | c.671A>T (p.Glu224Val) c.626A>T (p.Glu209Val) c.602A>T (p.Glu201Val) | |
| 6 | g.18130735T>C | CA362832397 | TPMT | c.671A>G (p.Glu224Gly) c.626A>G (p.Glu209Gly) c.602A>G (p.Glu201Gly) | |
| 6 | g.18130735T>G | CA362832398 | TPMT | c.671A>C (p.Glu224Ala) c.626A>C (p.Glu209Ala) c.602A>C (p.Glu201Ala) | |
| 6 | g.18130736C>A | CA362832399 | TPMT | c.670G>T (p.Glu224Ter) c.625G>T (p.Glu209Ter) c.601G>T (p.Glu201Ter) | |
| 6 | g.18130736C>G | CA362832400 | TPMT | c.670G>C (p.Glu224Gln) c.625G>C (p.Glu209Gln) c.601G>C (p.Glu201Gln) | |
| 6 | g.18130736C>T | CA362832401 | TPMT | c.670G>A (p.Glu224Lys) c.625G>A (p.Glu209Lys) c.601G>A (p.Glu201Lys) | |
| 6 | g.18130736_18130737delinsCA | CA1613545798 | TPMT | c.669_670delinsTG (p.Phe223=) c.624_625delinsTG (p.Phe208=) c.600_601delinsTG (p.Phe200=) | |
| 6 | g.18130737A>C | CA362832409 | TPMT | c.669T>G (p.Phe223Leu) c.624T>G (p.Phe208Leu) c.600T>G (p.Phe200Leu) | gnomAD v4 |
| 6 | g.18130737A>G | CA448764707 | TPMT | c.669T>C (p.Phe223=) c.624T>C (p.Phe208=) c.600T>C (p.Phe200=) | gnomAD v4 |
| 6 | g.18130737A>T | CA362832417 | TPMT | c.669T>A (p.Phe223Leu) c.624T>A (p.Phe208Leu) c.600T>A (p.Phe200Leu) | |
| 6 | g.18130740del | CA3650090 | TPMT | c.669del (p.Phe223LeufsTer25) c.624del (p.Phe208LeufsTer25) c.600del (p.Phe200LeufsTer25) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130738A>C | CA362832420 | TPMT | c.668T>G (p.Phe223Cys) c.623T>G (p.Phe208Cys) c.599T>G (p.Phe200Cys) | |
| 6 | g.18130738A>G | CA362832427 | TPMT | c.668T>C (p.Phe223Ser) c.623T>C (p.Phe208Ser) c.599T>C (p.Phe200Ser) | |
| 6 | g.18130738A>T | CA362832429 | TPMT | c.668T>A (p.Phe223Tyr) c.623T>A (p.Phe208Tyr) c.599T>A (p.Phe200Tyr) | |
| 6 | g.18130739A>C | CA362832430 | TPMT | c.667T>G (p.Phe223Val) c.622T>G (p.Phe208Val) c.598T>G (p.Phe200Val) | |
| 6 | g.18130739A>G | CA362832432 | TPMT | c.667T>C (p.Phe223Leu) c.622T>C (p.Phe208Leu) c.598T>C (p.Phe200Leu) | |
| 6 | g.18130739A>T | CA362832434 | TPMT | c.667T>A (p.Phe223Ile) c.622T>A (p.Phe208Ile) c.598T>A (p.Phe200Ile) | |
| 6 | g.18130740A>C | CA448764714 | TPMT | c.666T>G (p.Ala222=) c.621T>G (p.Ala207=) c.597T>G (p.Ala199=) | |
| 6 | g.18130740A>G | CA448764712 | TPMT | c.666T>C (p.Ala222=) c.621T>C (p.Ala207=) c.597T>C (p.Ala199=) | |
| 6 | g.18130740A>T | CA448764713 | TPMT | c.666T>A (p.Ala222=) c.621T>A (p.Ala207=) c.597T>A (p.Ala199=) | |
| 6 | g.18130741G>A | CA362832436 | TPMT | c.665C>T (p.Ala222Val) c.620C>T (p.Ala207Val) c.596C>T (p.Ala199Val) | |
| 6 | g.18130741G>C | CA362832439 | TPMT | c.665C>G (p.Ala222Gly) c.620C>G (p.Ala207Gly) c.596C>G (p.Ala199Gly) | dbSNP gnomAD v4 |
| 6 | g.18130741G= | CA1613545805 | TPMT | c.665C= (p.Ala222=) c.620C= (p.Ala207=) c.596C= (p.Ala199=) | |
| 6 | g.18130741G>T | CA3650091 | TPMT | c.665C>A (p.Ala222Asp) c.620C>A (p.Ala207Asp) c.596C>A (p.Ala199Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130742C>A | CA362832442 | TPMT | c.664G>T (p.Ala222Ser) c.619G>T (p.Ala207Ser) c.595G>T (p.Ala199Ser) | |
| 6 | g.18130742C>G | CA362832444 | TPMT | c.664G>C (p.Ala222Pro) c.619G>C (p.Ala207Pro) c.595G>C (p.Ala199Pro) | |
| 6 | g.18130742C>T | CA362832446 | TPMT | c.664G>A (p.Ala222Thr) c.619G>A (p.Ala207Thr) c.595G>A (p.Ala199Thr) | |
| 6 | g.18130743A>C | CA362832448 | TPMT | c.663T>G (p.Asp221Glu) c.618T>G (p.Asp206Glu) c.594T>G (p.Asp198Glu) | |
| 6 | g.18130743A>G | CA448764716 | TPMT | c.663T>C (p.Asp221=) c.618T>C (p.Asp206=) c.594T>C (p.Asp198=) | |
| 6 | g.18130743A>T | CA362832447 | TPMT | c.663T>A (p.Asp221Glu) c.618T>A (p.Asp206Glu) c.594T>A (p.Asp198Glu) | |
| 6 | g.18130744T>A | CA362832452 | TPMT | c.662A>T (p.Asp221Val) c.617A>T (p.Asp206Val) c.593A>T (p.Asp198Val) | |
| 6 | g.18130744T>C | CA362832455 | TPMT | c.662A>G (p.Asp221Gly) c.617A>G (p.Asp206Gly) c.593A>G (p.Asp198Gly) | |
| 6 | g.18130744T>G | CA362832457 | TPMT | c.662A>C (p.Asp221Ala) c.617A>C (p.Asp206Ala) c.593A>C (p.Asp198Ala) | |
| 6 | g.18130745C>A | CA362832460 | TPMT | c.661G>T (p.Asp221Tyr) c.616G>T (p.Asp206Tyr) c.592G>T (p.Asp198Tyr) | |
| 6 | g.18130745C>G | CA362832462 | TPMT | c.661G>C (p.Asp221His) c.616G>C (p.Asp206His) c.592G>C (p.Asp198His) | gnomAD v4 |
| 6 | g.18130745C>T | CA362832466 | TPMT | c.661G>A (p.Asp221Asn) c.616G>A (p.Asp206Asn) c.592G>A (p.Asp198Asn) | |
| 6 | g.18130746A>C | CA448764720 | TPMT | c.660T>G (p.Val220=) c.615T>G (p.Val205=) c.591T>G (p.Val197=) | |
| 6 | g.18130746A>G | CA448764721 | TPMT | c.660T>C (p.Val220=) c.615T>C (p.Val205=) c.591T>C (p.Val197=) | |
| 6 | g.18130746A>T | CA448764722 | TPMT | c.660T>A (p.Val220=) c.615T>A (p.Val205=) c.591T>A (p.Val197=) | |
| 6 | g.18130747A= | CA1613545809 | TPMT | c.659T= (p.Val220=) c.614T= (p.Val205=) c.590T= (p.Val197=) | |
| 6 | g.18130747A>C | CA362832471 | TPMT | c.659T>G (p.Val220Gly) c.614T>G (p.Val205Gly) c.590T>G (p.Val197Gly) | |
| 6 | g.18130747A>G | CA362832473 | TPMT | c.659T>C (p.Val220Ala) c.614T>C (p.Val205Ala) c.590T>C (p.Val197Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.18130747A>T | CA362832475 | TPMT | c.659T>A (p.Val220Asp) c.614T>A (p.Val205Asp) c.590T>A (p.Val197Asp) | |
| 6 | g.18130748C>A | CA3650092 | TPMT | c.658G>T (p.Val220Phe) c.613G>T (p.Val205Phe) c.589G>T (p.Val197Phe) | dbSNP ExAC gnomAD v4 |
| 6 | g.18130748C= | CA1613545811 | TPMT | c.658G= (p.Val220=) c.613G= (p.Val205=) c.589G= (p.Val197=) | |
| 6 | g.18130748C>G | CA362832481 | TPMT | c.658G>C (p.Val220Leu) c.613G>C (p.Val205Leu) c.589G>C (p.Val197Leu) | |
| 6 | g.18130748C>T | CA362832483 | TPMT | c.658G>A (p.Val220Ile) c.613G>A (p.Val205Ile) c.589G>A (p.Val197Ile) | |
| 6 | g.18130749C>A | CA362832488 | TPMT | c.657G>T (p.Lys219Asn) c.612G>T (p.Lys204Asn) c.588G>T (p.Lys196Asn) | |
| 6 | g.18130749C= | CA1613545816 | TPMT | c.657G= (p.Lys219=) c.612G= (p.Lys204=) c.588G= (p.Lys196=) | |
| 6 | g.18130749C>G | CA362832491 | TPMT | c.657G>C (p.Lys219Asn) c.612G>C (p.Lys204Asn) c.588G>C (p.Lys196Asn) | |
| 6 | g.18130749C>T | CA448764727 | TPMT | c.657G>A (p.Lys219=) c.612G>A (p.Lys204=) c.588G>A (p.Lys196=) | dbSNP gnomAD v4 |
| 6 | g.18130750T>A | CA362832492 | TPMT | c.656A>T (p.Lys219Met) c.611A>T (p.Lys204Met) c.587A>T (p.Lys196Met) | |
| 6 | g.18130750T>C | CA362832495 | TPMT | c.656A>G (p.Lys219Arg) c.611A>G (p.Lys204Arg) c.587A>G (p.Lys196Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130750T>G | CA362832494 | TPMT | c.656A>C (p.Lys219Thr) c.611A>C (p.Lys204Thr) c.587A>C (p.Lys196Thr) | gnomAD v4 |
| 6 | g.18130750T= | CA1613545819 | TPMT | c.656A= (p.Lys219=) c.611A= (p.Lys204=) c.587A= (p.Lys196=) | |
| 6 | g.18130751T>A | CA362832497 | TPMT | c.655A>T (p.Lys219Ter) c.610A>T (p.Lys204Ter) c.586A>T (p.Lys196Ter) | |
| 6 | g.18130751T>C | CA362832498 | TPMT | c.655A>G (p.Lys219Glu) c.610A>G (p.Lys204Glu) c.586A>G (p.Lys196Glu) | |
| 6 | g.18130751T>G | CA362832501 | TPMT | c.655A>C (p.Lys219Gln) c.610A>C (p.Lys204Gln) c.586A>C (p.Lys196Gln) | |
| 6 | g.18130752C>A | CA362832506 | TPMT | c.654G>T (p.Glu218Asp) c.609G>T (p.Glu203Asp) c.585G>T (p.Glu195Asp) | |
| 6 | g.18130752C>G | CA362832508 | TPMT | c.654G>C (p.Glu218Asp) c.609G>C (p.Glu203Asp) c.585G>C (p.Glu195Asp) | |
| 6 | g.18130752C>T | CA448764729 | TPMT | c.654G>A (p.Glu218=) c.609G>A (p.Glu203=) c.585G>A (p.Glu195=) | |
| 6 | g.18130753T>A | CA362832510 | TPMT | c.653A>T (p.Glu218Val) c.608A>T (p.Glu203Val) c.584A>T (p.Glu195Val) | |
| 6 | g.18130753T>C | CA362832512 | TPMT | c.653A>G (p.Glu218Gly) c.608A>G (p.Glu203Gly) c.584A>G (p.Glu195Gly) | |
| 6 | g.18130753T>G | CA362832514 | TPMT | c.653A>C (p.Glu218Ala) c.608A>C (p.Glu203Ala) c.584A>C (p.Glu195Ala) | |
| 6 | g.18130754C>A | CA362832517 | TPMT | c.652G>T (p.Glu218Ter) c.607G>T (p.Glu203Ter) c.583G>T (p.Glu195Ter) | gnomAD v4 |
| 6 | g.18130754C>G | CA362832529 | TPMT | c.652G>C (p.Glu218Gln) c.607G>C (p.Glu203Gln) c.583G>C (p.Glu195Gln) | |
| 6 | g.18130754C>T | CA362832533 | TPMT | c.652G>A (p.Glu218Lys) c.607G>A (p.Glu203Lys) c.583G>A (p.Glu195Lys) | |
| 6 | g.18130755A>C | CA448764736 | TPMT | c.651T>G (p.Leu217=) c.606T>G (p.Leu202=) c.582T>G (p.Leu194=) | |
| 6 | g.18130755A>G | CA448764733 | TPMT | c.651T>C (p.Leu217=) c.606T>C (p.Leu202=) c.582T>C (p.Leu194=) | |
| 6 | g.18130755A>T | CA448764734 | TPMT | c.651T>A (p.Leu217=) c.606T>A (p.Leu202=) c.582T>A (p.Leu194=) | |
| 6 | g.18130756A>C | CA362832537 | TPMT | c.650T>G (p.Leu217Arg) c.605T>G (p.Leu202Arg) c.581T>G (p.Leu194Arg) | |
| 6 | g.18130756A>G | CA362832536 | TPMT | c.650T>C (p.Leu217Pro) c.605T>C (p.Leu202Pro) c.581T>C (p.Leu194Pro) | |
| 6 | g.18130756A>T | CA362832535 | TPMT | c.650T>A (p.Leu217His) c.605T>A (p.Leu202His) c.581T>A (p.Leu194His) | |
| 6 | g.18130757G>A | CA362832538 | TPMT | c.649C>T (p.Leu217Phe) c.604C>T (p.Leu202Phe) c.580C>T (p.Leu194Phe) | |
| 6 | g.18130757G>C | CA362832540 | TPMT | c.649C>G (p.Leu217Val) c.604C>G (p.Leu202Val) c.580C>G (p.Leu194Val) | |
| 6 | g.18130757G>T | CA362832543 | TPMT | c.649C>A (p.Leu217Ile) c.604C>A (p.Leu202Ile) c.580C>A (p.Leu194Ile) | |
| 6 | g.18130758A= | CA1613545827 | TPMT | c.648T= (p.Cys216=) c.603T= (p.Cys201=) c.579T= (p.Cys193=) | |
| 6 | g.18130758A>C | CA362832548 | TPMT | c.648T>G (p.Cys216Trp) c.603T>G (p.Cys201Trp) c.579T>G (p.Cys193Trp) | |
| 6 | g.18130758A>G | CA448764738 | TPMT | c.648T>C (p.Cys216=) c.603T>C (p.Cys201=) c.579T>C (p.Cys193=) | |
| 6 | g.18130758A>T | CA220129 | TPMT | c.648T>A (p.Cys216Ter) c.603T>A (p.Cys201Ter) c.579T>A (p.Cys193Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130759C>A | CA362832557 | TPMT | c.647G>T (p.Cys216Phe) c.602G>T (p.Cys201Phe) c.578G>T (p.Cys193Phe) | gnomAD v4 COSMIC |
| 6 | g.18130759C= | CA1613545833 | TPMT | c.647G= (p.Cys216=) c.602G= (p.Cys201=) c.578G= (p.Cys193=) | |
| 6 | g.18130759C>G | CA362832564 | TPMT | c.647G>C (p.Cys216Ser) c.602G>C (p.Cys201Ser) c.578G>C (p.Cys193Ser) | |
| 6 | g.18130759C>T | CA3650093 | TPMT | c.647G>A (p.Cys216Tyr) c.602G>A (p.Cys201Tyr) c.578G>A (p.Cys193Tyr) | dbSNP ExAC gnomAD v4 |
| 6 | g.18130761_18130772del | CA2677457494 | TPMT | c.636_647del (p.Asn213_Cys216del) c.591_602del (p.Asn198_Cys201del) c.567_578del (p.Asn190_Cys193del) | gnomAD v4 |
| 6 | g.18130760A= | CA1613545836 | TPMT | c.646T= (p.Cys216=) c.601T= (p.Cys201=) c.577T= (p.Cys193=) | |
| 6 | g.18130760A>C | CA362832578 | TPMT | c.646T>G (p.Cys216Gly) c.601T>G (p.Cys201Gly) c.577T>G (p.Cys193Gly) | |
| 6 | g.18130760A>G | CA3650094 | TPMT | c.646T>C (p.Cys216Arg) c.601T>C (p.Cys201Arg) c.577T>C (p.Cys193Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130760A>T | CA362832604 | TPMT | c.646T>A (p.Cys216Ser) c.601T>A (p.Cys201Ser) c.577T>A (p.Cys193Ser) | |
| 6 | g.18130761A>C | CA448764741 | TPMT | c.645T>G (p.Arg215=) c.600T>G (p.Arg200=) c.576T>G (p.Arg192=) | |
| 6 | g.18130761A>G | CA448764742 | TPMT | c.645T>C (p.Arg215=) c.600T>C (p.Arg200=) c.576T>C (p.Arg192=) | |
| 6 | g.18130761A>T | CA448764743 | TPMT | c.645T>A (p.Arg215=) c.600T>A (p.Arg200=) c.576T>A (p.Arg192=) | |
| 6 | g.18130762C>A | CA362832615 | TPMT | c.644G>T (p.Arg215Leu) c.599G>T (p.Arg200Leu) c.575G>T (p.Arg192Leu) | |
| 6 | g.18130762C= | CA1613545842 | TPMT | c.644G= (p.Arg215=) c.599G= (p.Arg200=) c.575G= (p.Arg192=) | |
| 6 | g.18130762C>G | CA362832609 | TPMT | c.644G>C (p.Arg215Pro) c.599G>C (p.Arg200Pro) c.575G>C (p.Arg192Pro) | |
| 6 | g.18130762C>T | CA122647 | TPMT | c.644G>A (p.Arg215His) c.599G>A (p.Arg200His) c.575G>A (p.Arg192His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130763G>A | CA3650095 | TPMT | c.643C>T (p.Arg215Cys) c.598C>T (p.Arg200Cys) c.574C>T (p.Arg192Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.18130763G>C | CA362832638 | TPMT | c.643C>G (p.Arg215Gly) c.598C>G (p.Arg200Gly) c.574C>G (p.Arg192Gly) | |
| 6 | g.18130763G= | CA1613545848 | TPMT | c.643C= (p.Arg215=) c.598C= (p.Arg200=) c.574C= (p.Arg192=) | |
| 6 | g.18130763G>T | CA362832640 | TPMT | c.643C>A (p.Arg215Ser) c.598C>A (p.Arg200Ser) c.574C>A (p.Arg192Ser) | COSMIC |
| 6 | g.18130764T>A | CA448764747 | TPMT | c.642A>T (p.Ile214=) c.597A>T (p.Ile199=) c.573A>T (p.Ile191=) | |
| 6 | g.18130764T>C | CA362832647 | TPMT | c.642A>G (p.Ile214Met) c.597A>G (p.Ile199Met) c.573A>G (p.Ile191Met) | |
| 6 | g.18130764T>G | CA448764746 | TPMT | c.642A>C (p.Ile214=) c.597A>C (p.Ile199=) c.573A>C (p.Ile191=) | |
| 6 | g.18130765A>C | CA362832652 | TPMT | c.641T>G (p.Ile214Arg) c.596T>G (p.Ile199Arg) c.572T>G (p.Ile191Arg) | |
| 6 | g.18130765A>G | CA362832667 | TPMT | c.641T>C (p.Ile214Thr) c.596T>C (p.Ile199Thr) c.572T>C (p.Ile191Thr) | gnomAD v4 |
| 6 | g.18130765A>T | CA362832677 | TPMT | c.641T>A (p.Ile214Lys) c.596T>A (p.Ile199Lys) c.572T>A (p.Ile191Lys) | |
| 6 | g.18130766T>A | CA362832683 | TPMT | c.640A>T (p.Ile214Leu) c.595A>T (p.Ile199Leu) c.571A>T (p.Ile191Leu) | |
| 6 | g.18130766T>C | CA362832688 | TPMT | c.640A>G (p.Ile214Val) c.595A>G (p.Ile199Val) c.571A>G (p.Ile191Val) | gnomAD v4 |
| 6 | g.18130766T>G | CA362832702 | TPMT | c.640A>C (p.Ile214Leu) c.595A>C (p.Ile199Leu) c.571A>C (p.Ile191Leu) | |
| 6 | g.18130767A= | CA1613545850 | TPMT | c.639T= (p.Asn213=) c.594T= (p.Asn198=) c.570T= (p.Asn190=) | |
| 6 | g.18130767A>C | CA362832706 | TPMT | c.639T>G (p.Asn213Lys) c.594T>G (p.Asn198Lys) c.570T>G (p.Asn190Lys) | |
| 6 | g.18130767A>G | CA3650096 | TPMT | c.639T>C (p.Asn213=) c.594T>C (p.Asn198=) c.570T>C (p.Asn190=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130767A>T | CA362832710 | TPMT | c.639T>A (p.Asn213Lys) c.594T>A (p.Asn198Lys) c.570T>A (p.Asn190Lys) | |
| 6 | g.18130768T>A | CA362832723 | TPMT | c.638A>T (p.Asn213Ile) c.593A>T (p.Asn198Ile) c.569A>T (p.Asn190Ile) | |
| 6 | g.18130768T>C | CA362832712 | TPMT | c.638A>G (p.Asn213Ser) c.593A>G (p.Asn198Ser) c.569A>G (p.Asn190Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130768T>G | CA362832717 | TPMT | c.638A>C (p.Asn213Thr) c.593A>C (p.Asn198Thr) c.569A>C (p.Asn190Thr) | |
| 6 | g.18130768T= | CA1613545855 | TPMT | c.638A= (p.Asn213=) c.593A= (p.Asn198=) c.569A= (p.Asn190=) | |
| 6 | g.18130769T>A | CA362832729 | TPMT | c.637A>T (p.Asn213Tyr) c.592A>T (p.Asn198Tyr) c.568A>T (p.Asn190Tyr) | |
| 6 | g.18130769T>C | CA362832733 | TPMT | c.637A>G (p.Asn213Asp) c.592A>G (p.Asn198Asp) c.568A>G (p.Asn190Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130769T>G | CA362832738 | TPMT | c.637A>C (p.Asn213His) c.592A>C (p.Asn198His) c.568A>C (p.Asn190His) | |
| 6 | g.18130769T= | CA1613545858 | TPMT | c.637A= (p.Asn213=) c.592A= (p.Asn198=) c.568A= (p.Asn190=) | |
| 6 | g.18130770G>A | CA448764756 | TPMT | c.636C>T (p.Cys212=) c.591C>T (p.Cys197=) c.567C>T (p.Cys189=) | |
| 6 | g.18130770G>C | CA362832751 | TPMT | c.636C>G (p.Cys212Trp) c.591C>G (p.Cys197Trp) c.567C>G (p.Cys189Trp) | |
| 6 | g.18130770G>T | CA362832754 | TPMT | c.636C>A (p.Cys212Ter) c.591C>A (p.Cys197Ter) c.567C>A (p.Cys189Ter) | |
| 6 | g.18130771C>A | CA362832763 | TPMT | c.635G>T (p.Cys212Phe) c.590G>T (p.Cys197Phe) c.566G>T (p.Cys189Phe) | |
| 6 | g.18130771C>G | CA362832773 | TPMT | c.635G>C (p.Cys212Ser) c.590G>C (p.Cys197Ser) c.566G>C (p.Cys189Ser) | |
| 6 | g.18130771C>T | CA362832775 | TPMT | c.635G>A (p.Cys212Tyr) c.590G>A (p.Cys197Tyr) c.566G>A (p.Cys189Tyr) | |
| 6 | g.18130772A= | CA1613545863 | TPMT | c.634T= (p.Cys212=) c.589T= (p.Cys197=) c.565T= (p.Cys189=) | |
| 6 | g.18130772A>C | CA362832779 | TPMT | c.634T>G (p.Cys212Gly) c.589T>G (p.Cys197Gly) c.565T>G (p.Cys189Gly) | |
| 6 | g.18130772A>G | CA134961564 | TPMT | c.634T>C (p.Cys212Arg) c.589T>C (p.Cys197Arg) c.565T>C (p.Cys189Arg) | dbSNP |
| 6 | g.18130772A>T | CA362832786 | TPMT | c.634T>A (p.Cys212Ser) c.589T>A (p.Cys197Ser) c.565T>A (p.Cys189Ser) | |
| 6 | g.18130773T>A | CA448764761 | TPMT | c.633A>T (p.Ile211=) c.588A>T (p.Ile196=) c.564A>T (p.Ile188=) | |
| 6 | g.18130773T>C | CA362832790 | TPMT | c.633A>G (p.Ile211Met) c.588A>G (p.Ile196Met) c.564A>G (p.Ile188Met) | |
| 6 | g.18130773T>G | CA448764762 | TPMT | c.633A>C (p.Ile211=) c.588A>C (p.Ile196=) c.564A>C (p.Ile188=) | |
| 6 | g.18130774A>C | CA362832795 | TPMT | c.632T>G (p.Ile211Arg) c.587T>G (p.Ile196Arg) c.563T>G (p.Ile188Arg) | |
| 6 | g.18130774A>G | CA362832799 | TPMT | c.632T>C (p.Ile211Thr) c.587T>C (p.Ile196Thr) c.563T>C (p.Ile188Thr) | |
| 6 | g.18130774A>T | CA362832792 | TPMT | c.632T>A (p.Ile211Lys) c.587T>A (p.Ile196Lys) c.563T>A (p.Ile188Lys) | |
| 6 | g.18130775T>A | CA362832808 | TPMT | c.631A>T (p.Ile211Leu) c.586A>T (p.Ile196Leu) c.562A>T (p.Ile188Leu) | |
| 6 | g.18130775T>C | CA362832806 | TPMT | c.631A>G (p.Ile211Val) c.586A>G (p.Ile196Val) c.562A>G (p.Ile188Val) | |
| 6 | g.18130775T>G | CA362832810 | TPMT | c.631A>C (p.Ile211Leu) c.586A>C (p.Ile196Leu) c.562A>C (p.Ile188Leu) | |
| 6 | g.18130778del | CA2677457496 | TPMT | c.631del (p.Ile211TyrfsTer?) c.586del (p.Ile196TyrfsTer?) c.562del (p.Ile188TyrfsTer?) | gnomAD v4 |
| 6 | g.18130776T>A | CA362832813 | TPMT | c.630A>T (p.Lys210Asn) c.585A>T (p.Lys195Asn) c.561A>T (p.Lys187Asn) | |
| 6 | g.18130776T>C | CA448764765 | TPMT | c.630A>G (p.Lys210=) c.585A>G (p.Lys195=) c.561A>G (p.Lys187=) | |
| 6 | g.18130776T>G | CA362832815 | TPMT | c.630A>C (p.Lys210Asn) c.585A>C (p.Lys195Asn) c.561A>C (p.Lys187Asn) | |
| 6 | g.18130777T>A | CA362832818 | TPMT | c.629A>T (p.Lys210Ile) c.584A>T (p.Lys195Ile) c.560A>T (p.Lys187Ile) | |
| 6 | g.18130777T>C | CA362832822 | TPMT | c.629A>G (p.Lys210Arg) c.584A>G (p.Lys195Arg) c.560A>G (p.Lys187Arg) | |
| 6 | g.18130777T>G | CA362832826 | TPMT | c.629A>C (p.Lys210Thr) c.584A>C (p.Lys195Thr) c.560A>C (p.Lys187Thr) | |
| 6 | g.18130778T>A | CA362832830 | TPMT | c.628A>T (p.Lys210Ter) c.583A>T (p.Lys195Ter) c.559A>T (p.Lys187Ter) | |
| 6 | g.18130778T>C | CA362832835 | TPMT | c.628A>G (p.Lys210Glu) c.583A>G (p.Lys195Glu) c.559A>G (p.Lys187Glu) | |
| 6 | g.18130778T>G | CA362832837 | TPMT | c.628A>C (p.Lys210Gln) c.583A>C (p.Lys195Gln) c.559A>C (p.Lys187Gln) | |
| 6 | g.18130779A>C | CA448764767 | TPMT | c.627T>G (p.Gly209=) c.582T>G (p.Gly194=) c.558T>G (p.Gly186=) | |
| 6 | g.18130779A>G | CA448764768 | TPMT | c.627T>C (p.Gly209=) c.582T>C (p.Gly194=) c.558T>C (p.Gly186=) | |
| 6 | g.18130779A>T | CA448764769 | TPMT | c.627T>A (p.Gly209=) c.582T>A (p.Gly194=) c.558T>A (p.Gly186=) | |
| 6 | g.18130780C>A | CA362832843 | TPMT | c.626G>T (p.Gly209Val) c.581G>T (p.Gly194Val) c.557G>T (p.Gly186Val) | |
| 6 | g.18130780C>G | CA362832845 | TPMT | c.626G>C (p.Gly209Ala) c.581G>C (p.Gly194Ala) c.557G>C (p.Gly186Ala) | |
| 6 | g.18130780C>T | CA362832848 | TPMT | c.626G>A (p.Gly209Asp) c.581G>A (p.Gly194Asp) c.557G>A (p.Gly186Asp) | gnomAD v4 |
| 6 | g.18130781C>A | CA362832853 | TPMT | c.626-1G>T (n.626-1G>T) c.581-1G>T (n.581-1G>T) c.557-1G>T (n.557-1G>T) | |
| 6 | g.18130781C= | CA1613545868 | TPMT | c.626-1G= (n.626-1G=) c.581-1G= (n.581-1G=) c.557-1G= (n.557-1G=) | |
| 6 | g.18130781C>G | CA362832854 | TPMT | c.626-1G>C (n.626-1G>C) c.581-1G>C (n.581-1G>C) c.557-1G>C (n.557-1G>C) | |
| 6 | g.18130781C>T | CA358449 | TPMT | c.626-1G>A (n.626-1G>A) c.581-1G>A (n.581-1G>A) c.557-1G>A (n.557-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130782T>A | CA362832867 | TPMT | c.626-2A>T (n.626-2A>T) c.581-2A>T (n.581-2A>T) c.557-2A>T (n.557-2A>T) | gnomAD v4 |
| 6 | g.18130782T>C | CA362832864 | TPMT | c.626-2A>G (n.626-2A>G) c.581-2A>G (n.581-2A>G) c.557-2A>G (n.557-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130782T>G | CA362832859 | TPMT | c.626-2A>C (n.626-2A>C) c.581-2A>C (n.581-2A>C) c.557-2A>C (n.557-2A>C) | |
| 6 | g.18130782T= | CA1613545876 | TPMT | c.626-2A= (n.626-2A=) c.581-2A= (n.581-2A=) c.557-2A= (n.557-2A=) | |
| 6 | g.18130783G>C | CA645551456 | TPMT | c.626-3C>G (n.626-3C>G) c.581-3C>G (n.581-3C>G) c.557-3C>G (n.557-3C>G) | gnomAD v4 COSMIC |
| 6 | g.18130783G>T | CA2677457498 | TPMT | c.626-3C>A (n.626-3C>A) c.581-3C>A (n.581-3C>A) c.557-3C>A (n.557-3C>A) | gnomAD v4 |
| 6 | g.18130788A>G | CA2677457500 | TPMT | c.626-8T>C (n.626-8T>C) c.581-8T>C (n.581-8T>C) c.557-8T>C (n.557-8T>C) | gnomAD v4 |
| 6 | g.18130788_18130789insTGTAA | CA2677457499 | TPMT | c.626-8_626-7insTACAT (n.626-8_626-7insTACAT) c.581-8_581-7insTACAT (n.581-8_581-7insTACAT) c.557-8_557-7insTACAT (n.557-8_557-7insTACAT) | gnomAD v4 |
| 6 | g.18130793del | CA2677457501 | TPMT | c.626-11del (n.626-11del) c.581-11del (n.581-11del) c.557-11del (n.557-11del) | gnomAD v4 |
| 6 | g.18130793A= | CA1613545879 | TPMT | c.626-13T= (n.626-13T=) c.581-13T= (n.581-13T=) c.557-13T= (n.557-13T=) | |
| 6 | g.18130793A>G | CA1613545880 | TPMT | c.626-13T>C (n.626-13T>C) c.581-13T>C (n.581-13T>C) c.557-13T>C (n.557-13T>C) | dbSNP gnomAD v4 |
| 6 | g.18130794G>C | CA2677457502 | TPMT | c.626-14C>G (n.626-14C>G) c.581-14C>G (n.581-14C>G) c.557-14C>G (n.557-14C>G) | gnomAD v4 |
| 6 | g.18130796G>A | CA2677457503 | TPMT | c.626-16C>T (n.626-16C>T) c.581-16C>T (n.581-16C>T) c.557-16C>T (n.557-16C>T) | gnomAD v4 |
| 6 | g.18130797T>C | CA565555016 | TPMT | c.626-17A>G (n.626-17A>G) c.581-17A>G (n.581-17A>G) c.557-17A>G (n.557-17A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130797T= | CA1613545882 | TPMT | c.626-17A= (n.626-17A=) c.581-17A= (n.581-17A=) c.557-17A= (n.557-17A=) | |
| 6 | g.18130798A= | CA1613545884 | TPMT | c.626-18T= (n.626-18T=) c.581-18T= (n.581-18T=) c.557-18T= (n.557-18T=) | |
| 6 | g.18130798A>G | CA1613545885 | TPMT | c.626-18T>C (n.626-18T>C) c.581-18T>C (n.581-18T>C) c.557-18T>C (n.557-18T>C) | dbSNP gnomAD v4 |