Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18138997C>A | CA362835519 | TPMT | c.460G>T (p.Ala154Ser) c.391G>T (p.Ala131Ser) | dbSNP gnomAD v4 |
6 | g.18138997C= | CA891834522 | TPMT | c.460G= (p.Ala154=) c.391G= (p.Ala131=) | |
6 | g.18138997C>G | CA362835520 | TPMT | c.460G>C (p.Ala154Pro) c.391G>C (p.Ala131Pro) | |
6 | g.18138997C>T | CA122645 | TPMT | c.460G>A (p.Ala154Thr) c.391G>A (p.Ala131Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.18138998T>A | CA448765242 | TPMT | c.459A>T (p.Gly153=) c.390A>T (p.Gly130=) | |
6 | g.18138998T>C | CA448765243 | TPMT | c.459A>G (p.Gly153=) c.390A>G (p.Gly130=) | |
6 | g.18138998T>G | CA448765244 | TPMT | c.459A>C (p.Gly153=) c.390A>C (p.Gly130=) | |
6 | g.18138999C>A | CA362835524 | TPMT | c.458G>T (p.Gly153Val) c.389G>T (p.Gly130Val) | |
6 | g.18138999C>G | CA362835526 | TPMT | c.458G>C (p.Gly153Ala) c.389G>C (p.Gly130Ala) | |
6 | g.18138999C>T | CA362835530 | TPMT | c.458G>A (p.Gly153Glu) c.389G>A (p.Gly130Glu) | |
6 | g.18139000C>A | CA362835532 | TPMT | c.457G>T (p.Gly153Ter) c.388G>T (p.Gly130Ter) | |
6 | g.18139000C>G | CA362835533 | TPMT | c.457G>C (p.Gly153Arg) c.388G>C (p.Gly130Arg) | |
6 | g.18139000C>T | CA362835536 | TPMT | c.457G>A (p.Gly153Arg) c.388G>A (p.Gly130Arg) | |
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=) |