Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.19704538A= | CA2470918672 | KDM5D | c.*1457T= (n.*1457T=) n.4828T= | |
Y | g.19704538A>G | CA337439718 | KDM5D | c.*1457T>C (n.*1457T>C) n.4828T>C | dbSNP |
Y | g.19704544A>G | CA2500141236 | KDM5D | c.*1451T>C (n.*1451T>C) n.4822T>C | |
Y | g.19704549del | CA2502850626 | KDM5D | c.*1446del (n.*1446del) n.4817del | |
Y | g.19704551G>T | CA2548095901 | KDM5D | c.*1444C>A (n.*1444C>A) n.4815C>A | |
Y | g.19704556A>G | CA923788063 | KDM5D | c.*1439T>C (n.*1439T>C) n.4810T>C | gnomAD v3 gnomAD v4 |
Y | g.19704561G>A | CA337439720 | KDM5D | c.*1434C>T (n.*1434C>T) n.4805C>T | dbSNP gnomAD v3 gnomAD v4 |
Y | g.19704561G= | CA2470918673 | KDM5D | c.*1434C= (n.*1434C=) n.4805C= | |
Y | g.19704563A>T | CA923788074 | KDM5D | c.*1432T>A (n.*1432T>A) n.4803T>A | gnomAD v3 gnomAD v4 |
Y | g.19704565_19704566insAAACCACGAAACATTTGTCCGCTTCCTTTTG | CA2515823924 | KDM5D | c.*1429_*1430insCAAAAGGAAGCGGACAAATGTTTCGTGGTTT (n.*1429_*1430insCAAAAGGAAGCGGACAAATGTTTCGTGGTTT) n.4800_4801insCAAAAGGAAGCGGACAAATGTTTCGTGGTTT | |
Y | g.19704568_19704569insAGCGGATAAATTCAAGGAGAGTGTCCTTTGTAGTCAGTGTGCCATCGAAGTCGAAAGCATATATCTTTCTCATGTCCTATTGGATATTCT | CA2543699330 | KDM5D | c.*1426_*1427insAGAATATCCAATAGGACATGAGAAAGATATATGCTTTCGACTTCGATGGCACACTGACTACAAAGGACACTCTCCTTGAATTTATCCGCT (n.*1426_*1427insAGAATATCCAATAGGACATGAGAAAGATATATGCTTTCGACTTCGATGGCACACTGACTACAAAGGACACTCTCCTTGAATTTATCCGCT) n.4797_4798insAGAATATCCAATAGGACATGAGAAAGATATATGCTTTCGACTTCGATGGCACACTGACTACAAAGGACACTCTCCTTGAATTTATCCGCT | |
Y | g.19704579A>G | CA2509822756 | KDM5D | c.*1416T>C (n.*1416T>C) n.4787T>C | |
Y | g.19704580G= | CA2470918674 | KDM5D | c.*1415C= (n.*1415C=) n.4786C= | |
Y | g.19704580G>T | CA923788075 | KDM5D | c.*1415C>A (n.*1415C>A) n.4786C>A | dbSNP gnomAD v3 gnomAD v4 |
Y | g.19704585G>T | CA2536762883 | KDM5D | c.*1410C>A (n.*1410C>A) n.4781C>A | |
Y | g.19704598A>G | CA2504263444 | KDM5D | c.*1397T>C (n.*1397T>C) n.4768T>C | |
Y | g.19704605C= | CA2470918675 | KDM5D | c.*1390G= (n.*1390G=) n.4761G= | |
Y | g.19704605C>T | CA337439722 | KDM5D | c.*1390G>A (n.*1390G>A) n.4761G>A | dbSNP gnomAD v3 gnomAD v4 |
Y | g.19704611G>A | CA337439724 | KDM5D | c.*1384C>T (n.*1384C>T) n.4755C>T | dbSNP gnomAD v3 gnomAD v4 |
Y | g.19704611G= | CA2470918676 | KDM5D | c.*1384C= (n.*1384C=) n.4755C= | |
Y | g.19704612T= | CA2470918677 | KDM5D | c.*1383A= (n.*1383A=) n.4754A= | |
Y | g.19704614dup | CA923788076 | KDM5D | c.*1382dup (n.*1382dup) n.4753dup | dbSNP gnomAD v3 gnomAD v4 |
Y | g.19704618C= | CA2470918678 | KDM5D | c.*1377G= (n.*1377G=) n.4748G= | |
Y | g.19704618C>T | CA337439726 | KDM5D | c.*1377G>A (n.*1377G>A) n.4748G>A | dbSNP gnomAD v3 gnomAD v4 |
Y | g.19704635C>T | CA923788080 | KDM5D | c.*1360G>A (n.*1360G>A) n.4731G>A | gnomAD v3 gnomAD v4 |