Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.135028824C>A | CA446781668 | PITX1 | c.900G>T (p.Leu300=) | gnomAD v4 |
5 | g.135028824C>G | CA446781669 | PITX1 | c.900G>C (p.Leu300=) | |
5 | g.135028824C>T | CA446781672 | PITX1 | c.900G>A (p.Leu300=) | |
5 | g.135028825A>C | CA361027275 | PITX1 | c.899T>G (p.Leu300Arg) | ClinVar |
5 | g.135028825A>G | CA361027276 | PITX1 | c.899T>C (p.Leu300Pro) | gnomAD v4 |
5 | g.135028825A>T | CA361027277 | PITX1 | c.899T>A (p.Leu300Gln) | |
5 | g.135028826G>A | CA446781682 | PITX1 | c.898C>T (p.Leu300=) | dbSNP gnomAD v2 |
5 | g.135028826G>C | CA361027279 | PITX1 | c.898C>G (p.Leu300Val) | |
5 | g.135028826G= | CA1584338782 | PITX1 | c.898C= (p.Leu300=) | |
5 | g.135028826G>T | CA361027278 | PITX1 | c.898C>A (p.Leu300Met) | |
5 | g.135028827G>A | CA446781688 | PITX1 | c.897C>T (p.Gly299=) | gnomAD v4 |
5 | g.135028827G>C | CA446781690 | PITX1 | c.897C>G (p.Gly299=) | |
5 | g.135028827G>T | CA446781691 | PITX1 | c.897C>A (p.Gly299=) | gnomAD v4 |
5 | g.135028828C>A | CA361027280 | PITX1 | c.896G>T (p.Gly299Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028828C= | CA1584338784 | PITX1 | c.896G= (p.Gly299=) | |
5 | g.135028828C>G | CA3417525 | PITX1 | c.896G>C (p.Gly299Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028828C>T | CA361027281 | PITX1 | c.896G>A (p.Gly299Asp) | gnomAD v4 |
5 | g.135028829C>A | CA361027282 | PITX1 | c.895G>T (p.Gly299Cys) | |
5 | g.135028829C= | CA1584338785 | PITX1 | c.895G= (p.Gly299=) | |
5 | g.135028829C>G | CA361027283 | PITX1 | c.895G>C (p.Gly299Arg) | |
5 | g.135028829C>T | CA3417526 | PITX1 | c.895G>A (p.Gly299Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028830G>A | CA446781704 | PITX1 | c.894C>T (p.Gly298=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028830G>C | CA446781707 | PITX1 | c.894C>G (p.Gly298=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028830G= | CA1584338786 | PITX1 | c.894C= (p.Gly298=) | |
5 | g.135028830G>T | CA446781709 | PITX1 | c.894C>A (p.Gly298=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028831C>A | CA361027284 | PITX1 | c.893G>T (p.Gly298Val) | |
5 | g.135028831C= | CA1584338791 | PITX1 | c.893G= (p.Gly298=) | |
5 | g.135028831C>G | CA361027286 | PITX1 | c.893G>C (p.Gly298Ala) | |
5 | g.135028831C>T | CA361027285 | PITX1 | c.893G>A (p.Gly298Asp) | dbSNP |
5 | g.135028832C>A | CA361027287 | PITX1 | c.892G>T (p.Gly298Cys) | |
5 | g.135028832C>G | CA361027288 | PITX1 | c.892G>C (p.Gly298Arg) | |
5 | g.135028832C>T | CA361027289 | PITX1 | c.892G>A (p.Gly298Ser) | |
5 | g.135028833G>A | CA446781720 | PITX1 | c.891C>T (p.Tyr297=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028833G>C | CA361027290 | PITX1 | c.891C>G (p.Tyr297Ter) | |
5 | g.135028833G= | CA1584338795 | PITX1 | c.891C= (p.Tyr297=) | |
5 | g.135028833G>T | CA361027291 | PITX1 | c.891C>A (p.Tyr297Ter) | |
5 | g.135028834T>A | CA361027292 | PITX1 | c.890A>T (p.Tyr297Phe) | |
5 | g.135028834T>C | CA361027293 | PITX1 | c.890A>G (p.Tyr297Cys) | COSMIC |
5 | g.135028834T>G | CA361027294 | PITX1 | c.890A>C (p.Tyr297Ser) | gnomAD v4 |
5 | g.135028835A= | CA1584338797 | PITX1 | c.889T= (p.Tyr297=) | |
5 | g.135028835A>C | CA361027295 | PITX1 | c.889T>G (p.Tyr297Asp) | |
5 | g.135028835A>G | CA361027296 | PITX1 | c.889T>C (p.Tyr297His) | |
5 | g.135028835A>T | CA361027297 | PITX1 | c.889T>A (p.Tyr297Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028836G>A | CA446781737 | PITX1 | c.888C>T (p.Gly296=) | dbSNP gnomAD v2 |
5 | g.135028836G>C | CA446781733 | PITX1 | c.888C>G (p.Gly296=) | |
5 | g.135028836G= | CA1584338799 | PITX1 | c.888C= (p.Gly296=) | |
5 | g.135028836G>T | CA446781735 | PITX1 | c.888C>A (p.Gly296=) | |
5 | g.135028837C>A | CA361027300 | PITX1 | c.887G>T (p.Gly296Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028837C= | CA1584338803 | PITX1 | c.887G= (p.Gly296=) | |
5 | g.135028837C>G | CA361027299 | PITX1 | c.887G>C (p.Gly296Ala) |