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 |
|---|---|---|---|---|---|
| 12 | g.49049795G>A | CA384653335 | KMT2D | c.3793C>T (p.Pro1265Ser) n.6113C>T n.5102C>T | dbSNP gnomAD v4 |
| 12 | g.49049795G>C | CA384653338 | KMT2D | c.3793C>G (p.Pro1265Ala) n.6113C>G n.5102C>G | dbSNP |
| 12 | g.49049795G>T | CA384653329 | KMT2D | c.3793C>A (p.Pro1265Thr) n.6113C>A n.5102C>A | dbSNP |
| 12 | g.49049796C>A | CA479514797 | KMT2D | c.3792G>T (p.Leu1264=) n.6112G>T n.5101G>T | dbSNP COSMIC COSMIC |
| 12 | g.49049796C>G | CA479514794 | KMT2D | c.3792G>C (p.Leu1264=) n.6112G>C n.5101G>C | dbSNP |
| 12 | g.49049796C>T | CA479514796 | KMT2D | c.3792G>A (p.Leu1264=) n.6112G>A n.5101G>A | dbSNP |
| 12 | g.49049797A>C | CA384653342 | KMT2D | c.3791T>G (p.Leu1264Arg) n.6111T>G n.5100T>G | |
| 12 | g.49049797A>G | CA384653352 | KMT2D | c.3791T>C (p.Leu1264Pro) n.6111T>C n.5100T>C | dbSNP gnomAD v4 |
| 12 | g.49049797A>T | CA384653345 | KMT2D | c.3791T>A (p.Leu1264Gln) n.6111T>A n.5100T>A | dbSNP |
| 12 | g.49049797_49049799delinsAGT | CA2034960681 | KMT2D | c.3789_3791delinsACT (p.Ser1263=) n.6109_6111delinsACT n.5098_5100delinsACT | |
| 12 | g.49049798G>A | CA6547990 | KMT2D | c.3790C>T (p.Leu1264=) n.6110C>T n.5099C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49049798G>C | CA384653364 | KMT2D | c.3790C>G (p.Leu1264Val) n.6110C>G n.5099C>G | dbSNP |
| 12 | g.49049798G= | CA2034960690 | KMT2D | c.3790C= (p.Leu1264=) n.6110C= n.5099C= | |
| 12 | g.49049798G>T | CA384653367 | KMT2D | c.3790C>A (p.Leu1264Met) n.6110C>A n.5099C>A | |
| 12 | g.49049799_49049800del | CA658823410 | KMT2D | c.3789_3790del (p.Leu1264AlafsTer4) n.6109_6110del n.5098_5099del | ClinVar dbSNP |
| 12 | g.49049799T>A | CA479514800 | KMT2D | c.3789A>T (p.Ser1263=) n.6109A>T n.5098A>T | |
| 12 | g.49049799T>C | CA479514801 | KMT2D | c.3789A>G (p.Ser1263=) n.6109A>G n.5098A>G | gnomAD v4 |
| 12 | g.49049799T>G | CA479514802 | KMT2D | c.3789A>C (p.Ser1263=) n.6109A>C n.5098A>C | |
| 12 | g.49049800G>A | CA384653370 | KMT2D | c.3788C>T (p.Ser1263Leu) n.6108C>T n.5097C>T | dbSNP |
| 12 | g.49049800G>C | CA384653371 | KMT2D | c.3788C>G (p.Ser1263Ter) n.6108C>G n.5097C>G | ClinVar dbSNP |
| 12 | g.49049800G= | CA2034960696 | KMT2D | c.3788C= (p.Ser1263=) n.6108C= n.5097C= | |
| 12 | g.49049800G>T | CA384653372 | KMT2D | c.3788C>A (p.Ser1263Ter) n.6108C>A n.5097C>A | |
| 12 | g.49049801A>C | CA384653376 | KMT2D | c.3787T>G (p.Ser1263Ala) n.6107T>G n.5096T>G | |
| 12 | g.49049801A>G | CA384653383 | KMT2D | c.3787T>C (p.Ser1263Pro) n.6107T>C n.5096T>C | dbSNP |
| 12 | g.49049801A>T | CA384653387 | KMT2D | c.3787T>A (p.Ser1263Thr) n.6107T>A n.5096T>A | dbSNP |
| 12 | g.49049802G>A | CA479514804 | KMT2D | c.3786C>T (p.Asp1262=) n.6106C>T n.5095C>T | dbSNP |
| 12 | g.49049802G>C | CA384653391 | KMT2D | c.3786C>G (p.Asp1262Glu) n.6106C>G n.5095C>G | dbSNP |
| 12 | g.49049802G>T | CA384653396 | KMT2D | c.3786C>A (p.Asp1262Glu) n.6106C>A n.5095C>A | |
| 12 | g.49049803T>A | CA384653417 | KMT2D | c.3785A>T (p.Asp1262Val) n.6105A>T n.5094A>T | dbSNP |
| 12 | g.49049803T>C | CA384653414 | KMT2D | c.3785A>G (p.Asp1262Gly) n.6105A>G n.5094A>G | dbSNP |
| 12 | g.49049803T>G | CA384653403 | KMT2D | c.3785A>C (p.Asp1262Ala) n.6105A>C n.5094A>C | dbSNP |
| 12 | g.49049804C>A | CA384653440 | KMT2D | c.3784G>T (p.Asp1262Tyr) n.6104G>T n.5093G>T | |
| 12 | g.49049804C>G | CA384653447 | KMT2D | c.3784G>C (p.Asp1262His) n.6104G>C n.5093G>C | |
| 12 | g.49049804C>T | CA384653450 | KMT2D | c.3784G>A (p.Asp1262Asn) n.6104G>A n.5093G>A | dbSNP |
| 12 | g.49049805A>C | CA479514806 | KMT2D | c.3783T>G (p.Thr1261=) n.6103T>G n.5092T>G | gnomAD v4 |
| 12 | g.49049805A>G | CA479514807 | KMT2D | c.3783T>C (p.Thr1261=) n.6103T>C n.5092T>C | dbSNP |
| 12 | g.49049805A>T | CA479514808 | KMT2D | c.3783T>A (p.Thr1261=) n.6103T>A n.5092T>A | dbSNP |
| 12 | g.49049806G>A | CA384653465 | KMT2D | c.3782C>T (p.Thr1261Ile) n.6102C>T n.5091C>T | ClinVar dbSNP |
| 12 | g.49049806G>C | CA384653466 | KMT2D | c.3782C>G (p.Thr1261Ser) n.6102C>G n.5091C>G | dbSNP |
| 12 | g.49049806G>T | CA384653467 | KMT2D | c.3782C>A (p.Thr1261Asn) n.6102C>A n.5091C>A | dbSNP |
| 12 | g.49049807T>A | CA384653468 | KMT2D | c.3781A>T (p.Thr1261Ser) n.6101A>T n.5090A>T | dbSNP |
| 12 | g.49049807T>C | CA384653471 | KMT2D | c.3781A>G (p.Thr1261Ala) n.6101A>G n.5090A>G | dbSNP |
| 12 | g.49049807T>G | CA384653473 | KMT2D | c.3781A>C (p.Thr1261Pro) n.6101A>C n.5090A>C | dbSNP |
| 12 | g.49049808A>C | CA384653474 | KMT2D | c.3780T>G (p.Cys1260Trp) n.6100T>G n.5089T>G | dbSNP |
| 12 | g.49049808A>G | CA479514812 | KMT2D | c.3780T>C (p.Cys1260=) n.6100T>C n.5089T>C | dbSNP |
| 12 | g.49049808A>T | CA384653478 | KMT2D | c.3780T>A (p.Cys1260Ter) n.6100T>A n.5089T>A | dbSNP |
| 12 | g.49049809C>A | CA384653484 | KMT2D | c.3779G>T (p.Cys1260Phe) n.6099G>T n.5088G>T | dbSNP |
| 12 | g.49049809C= | CA2034960703 | KMT2D | c.3779G= (p.Cys1260=) n.6099G= n.5088G= | |
| 12 | g.49049809C>G | CA384653483 | KMT2D | c.3779G>C (p.Cys1260Ser) n.6099G>C n.5088G>C | dbSNP |
| 12 | g.49049809C>T | CA6547991 | KMT2D | c.3779G>A (p.Cys1260Tyr) n.6099G>A n.5088G>A | dbSNP ExAC gnomAD v2 |