Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18139000_18139002dup | CA822716420 | TPMT | c.458_460dup (p.Gly153_Ala154insGly) c.389_391dup (p.Gly130_Ala131insGly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18139001T>A | CA362835543 | TPMT | c.456A>T (p.Arg152Ser) c.387A>T (p.Arg129Ser) | |
6 | g.18139001T>C | CA448765249 | TPMT | c.456A>G (p.Arg152=) c.387A>G (p.Arg129=) | |
6 | g.18139001T>G | CA362835545 | TPMT | c.456A>C (p.Arg152Ser) c.387A>C (p.Arg129Ser) | |
6 | g.18139002C>A | CA362835547 | TPMT | c.455G>T (p.Arg152Ile) c.386G>T (p.Arg129Ile) | |
6 | g.18139002C= | CA1613557636 | TPMT | c.455G= (p.Arg152=) c.386G= (p.Arg129=) | |
6 | g.18139002C>G | CA362835549 | TPMT | c.455G>C (p.Arg152Thr) c.386G>C (p.Arg129Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18139002C>T | CA362835550 | TPMT | c.455G>A (p.Arg152Lys) c.386G>A (p.Arg129Lys) | |
6 | g.18139003T>A | CA362835551 | TPMT | c.454A>T (p.Arg152Ter) c.385A>T (p.Arg129Ter) | |
6 | g.18139003T>C | CA362835553 | TPMT | c.454A>G (p.Arg152Gly) c.385A>G (p.Arg129Gly) | |
6 | g.18139003T>G | CA448765250 | TPMT | c.454A>C (p.Arg152=) c.385A>C (p.Arg129=) | gnomAD v4 |
6 | g.18139004A= | CA1613557642 | TPMT | c.453T= (p.Asp151=) c.384T= (p.Asp128=) | |
6 | g.18139004A>C | CA362835555 | TPMT | c.453T>G (p.Asp151Glu) c.384T>G (p.Asp128Glu) | |
6 | g.18139004A>G | CA3650179 | TPMT | c.453T>C (p.Asp151=) c.384T>C (p.Asp128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18139004A>T | CA362835561 | TPMT | c.453T>A (p.Asp151Glu) c.384T>A (p.Asp128Glu) | |
6 | g.18139005T>A | CA362835562 | TPMT | c.452A>T (p.Asp151Val) c.383A>T (p.Asp128Val) | |
6 | g.18139005T>C | CA362835564 | TPMT | c.452A>G (p.Asp151Gly) c.383A>G (p.Asp128Gly) | |
6 | g.18139005T>G | CA362835565 | TPMT | c.452A>C (p.Asp151Ala) c.383A>C (p.Asp128Ala) | |
6 | g.18139006C>A | CA362835566 | TPMT | c.451G>T (p.Asp151Tyr) c.382G>T (p.Asp128Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18139006C= | CA1613557648 | TPMT | c.451G= (p.Asp151=) c.382G= (p.Asp128=) | |
6 | g.18139006C>G | CA362835569 | TPMT | c.451G>C (p.Asp151His) c.382G>C (p.Asp128His) | |
6 | g.18139006C>T | CA362835570 | TPMT | c.451G>A (p.Asp151Asn) c.382G>A (p.Asp128Asn) | |
6 | g.18139006_18139007insACTTT | CA2530385263 | TPMT | c.450_451insAAAGT (p.Asp151LysfsTer7) c.381_382insAAAGT (p.Asp128LysfsTer7) | |
6 | g.18139007C>A | CA362835574 | TPMT | c.450G>T (p.Trp150Cys) c.381G>T (p.Trp127Cys) | |
6 | g.18139007C>G | CA362835577 | TPMT | c.450G>C (p.Trp150Cys) c.381G>C (p.Trp127Cys) | |
6 | g.18139007C>T | CA362835580 | TPMT | c.450G>A (p.Trp150Ter) c.381G>A (p.Trp127Ter) | |
6 | g.18139008C>A | CA362835586 | TPMT | c.449G>T (p.Trp150Leu) c.380G>T (p.Trp127Leu) | gnomAD v4 |
6 | g.18139008C= | CA1613557653 | TPMT | c.449G= (p.Trp150=) c.380G= (p.Trp127=) | |
6 | g.18139008C>G | CA362835585 | TPMT | c.449G>C (p.Trp150Ser) c.380G>C (p.Trp127Ser) | |
6 | g.18139008C>T | CA134966057 | TPMT | c.449G>A (p.Trp150Ter) c.380G>A (p.Trp127Ter) | dbSNP gnomAD v4 |
6 | g.18139009A= | CA1613557656 | TPMT | c.448T= (p.Trp150=) c.379T= (p.Trp127=) | |
6 | g.18139009A>C | CA362835589 | TPMT | c.448T>G (p.Trp150Gly) c.379T>G (p.Trp127Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18139009A>G | CA362835599 | TPMT | c.448T>C (p.Trp150Arg) c.379T>C (p.Trp127Arg) | |
6 | g.18139009A>T | CA362835596 | TPMT | c.448T>A (p.Trp150Arg) c.379T>A (p.Trp127Arg) | |
6 | g.18139011del | CA2578538837 | TPMT | c.448del (p.Trp150GlyfsTer6) c.379del (p.Trp127GlyfsTer6) | gnomAD v4 |
6 | g.18139010A>C | CA362835601 | TPMT | c.447T>G (p.Ile149Met) c.378T>G (p.Ile126Met) | |
6 | g.18139010A>G | CA448765252 | TPMT | c.447T>C (p.Ile149=) c.378T>C (p.Ile126=) | |
6 | g.18139010A>T | CA448765253 | TPMT | c.447T>A (p.Ile149=) c.378T>A (p.Ile126=) | |
6 | g.18139011A= | CA1613557657 | TPMT | c.446T= (p.Ile149=) c.377T= (p.Ile126=) | |
6 | g.18139011A>C | CA362835603 | TPMT | c.446T>G (p.Ile149Ser) c.377T>G (p.Ile126Ser) | |
6 | g.18139011A>G | CA362835604 | TPMT | c.446T>C (p.Ile149Thr) c.377T>C (p.Ile126Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18139011A>T | CA362835605 | TPMT | c.446T>A (p.Ile149Asn) c.377T>A (p.Ile126Asn) | |
6 | g.18139012T>A | CA362835606 | TPMT | c.445A>T (p.Ile149Phe) c.376A>T (p.Ile126Phe) | |
6 | g.18139012T>C | CA362835608 | TPMT | c.445A>G (p.Ile149Val) c.376A>G (p.Ile126Val) | |
6 | g.18139012T>G | CA362835610 | TPMT | c.445A>C (p.Ile149Leu) c.376A>C (p.Ile126Leu) | |
6 | g.18139013C>A | CA362835614 | TPMT | c.444G>T (p.Met148Ile) c.375G>T (p.Met125Ile) | |
6 | g.18139013C>G | CA362835624 | TPMT | c.444G>C (p.Met148Ile) c.375G>C (p.Met125Ile) | |
6 | g.18139013C>T | CA362835628 | TPMT | c.444G>A (p.Met148Ile) c.375G>A (p.Met125Ile) | |
6 | g.18139014A>C | CA362835629 | TPMT | c.443T>G (p.Met148Arg) c.374T>G (p.Met125Arg) | |
6 | g.18139014A>G | CA362835630 | TPMT | c.443T>C (p.Met148Thr) c.374T>C (p.Met125Thr) |