Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.54495158G>A | CA413254452 | FGD1 | c.275C>T (p.Ser92Phe) | |
X | g.54495158G>C | CA413254453 | FGD1 | c.275C>G (p.Ser92Cys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54495158G= | CA2430198357 | FGD1 | c.275C= (p.Ser92=) | |
X | g.54495158G>T | CA413254454 | FGD1 | c.275C>A (p.Ser92Tyr) | |
X | g.54495159A>C | CA413254457 | FGD1 | c.274T>G (p.Ser92Ala) | |
X | g.54495159A>G | CA413254455 | FGD1 | c.274T>C (p.Ser92Pro) | gnomAD v4 |
X | g.54495159A>T | CA413254456 | FGD1 | c.274T>A (p.Ser92Thr) | gnomAD v4 |
X | g.54495160G>A | CA516574657 | FGD1 | c.273C>T (p.Phe91=) | |
X | g.54495160G>C | CA413254458 | FGD1 | c.273C>G (p.Phe91Leu) | |
X | g.54495160G>T | CA413254459 | FGD1 | c.273C>A (p.Phe91Leu) | gnomAD v4 |
X | g.54495161A>C | CA413254460 | FGD1 | c.272T>G (p.Phe91Cys) | |
X | g.54495161A>G | CA413254461 | FGD1 | c.272T>C (p.Phe91Ser) | |
X | g.54495161A>T | CA413254462 | FGD1 | c.272T>A (p.Phe91Tyr) | |
X | g.54495162A>C | CA413254463 | FGD1 | c.271T>G (p.Phe91Val) | |
X | g.54495162A>G | CA413254464 | FGD1 | c.271T>C (p.Phe91Leu) | |
X | g.54495162A>T | CA413254465 | FGD1 | c.271T>A (p.Phe91Ile) | |
X | g.54495163G>A | CA516574658 | FGD1 | c.270C>T (p.Arg90=) | gnomAD v4 |
X | g.54495163G>C | CA516574659 | FGD1 | c.270C>G (p.Arg90=) | |
X | g.54495163G>T | CA516574660 | FGD1 | c.270C>A (p.Arg90=) | |
X | g.54495165_54495166dup | CA2695233909 | FGD1 | c.269_270dup (p.Phe91AlafsTer?) | |
X | g.54495164C>A | CA413254466 | FGD1 | c.269G>T (p.Arg90Leu) | gnomAD v4 |
X | g.54495164C>G | CA413254467 | FGD1 | c.269G>C (p.Arg90Pro) | gnomAD v4 |
X | g.54495164C>T | CA413254468 | FGD1 | c.269G>A (p.Arg90His) | gnomAD v4 |
X | g.54495165G>A | CA10425297 | FGD1 | c.268C>T (p.Arg90Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54495165G>C | CA413254470 | FGD1 | c.268C>G (p.Arg90Gly) | gnomAD v4 |
X | g.54495165G= | CA2430198358 | FGD1 | c.268C= (p.Arg90=) | |
X | g.54495165G>T | CA413254469 | FGD1 | c.268C>A (p.Arg90Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54495166C>A | CA516574661 | FGD1 | c.267G>T (p.Leu89=) | gnomAD v4 |
X | g.54495166C>G | CA516574662 | FGD1 | c.267G>C (p.Leu89=) | gnomAD v4 |
X | g.54495166C>T | CA516574663 | FGD1 | c.267G>A (p.Leu89=) | gnomAD v4 |
X | g.54495167A>C | CA413254471 | FGD1 | c.266T>G (p.Leu89Arg) | |
X | g.54495167A>G | CA413254472 | FGD1 | c.266T>C (p.Leu89Pro) | gnomAD v4 |
X | g.54495167A>T | CA413254473 | FGD1 | c.266T>A (p.Leu89Gln) | gnomAD v4 |
X | g.54495168G>A | CA516574664 | FGD1 | c.265C>T (p.Leu89=) | gnomAD v4 |
X | g.54495168G>C | CA413254474 | FGD1 | c.265C>G (p.Leu89Val) | |
X | g.54495168G>T | CA413254475 | FGD1 | c.265C>A (p.Leu89Met) | gnomAD v4 |
X | g.54495169G>A | CA516574665 | FGD1 | c.264C>T (p.Ala88=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54495169G>C | CA516574666 | FGD1 | c.264C>G (p.Ala88=) | |
X | g.54495169G= | CA2430198359 | FGD1 | c.264C= (p.Ala88=) | |
X | g.54495169G>T | CA516574667 | FGD1 | c.264C>A (p.Ala88=) | gnomAD v4 |
X | g.54495170G>A | CA413254476 | FGD1 | c.263C>T (p.Ala88Val) | gnomAD v4 |
X | g.54495170G>C | CA413254477 | FGD1 | c.263C>G (p.Ala88Gly) | |
X | g.54495170G>T | CA413254478 | FGD1 | c.263C>A (p.Ala88Asp) | gnomAD v4 |
X | g.54495171C>A | CA413254479 | FGD1 | c.262G>T (p.Ala88Ser) | gnomAD v4 |
X | g.54495171C>G | CA413254480 | FGD1 | c.262G>C (p.Ala88Pro) | |
X | g.54495171C>T | CA413254481 | FGD1 | c.262G>A (p.Ala88Thr) | gnomAD v4 |
X | g.54495172C>A | CA516574668 | FGD1 | c.261G>T (p.Arg87=) | gnomAD v4 |
X | g.54495172C>G | CA516574670 | FGD1 | c.261G>C (p.Arg87=) | |
X | g.54495172C>T | CA516574669 | FGD1 | c.261G>A (p.Arg87=) | |
X | g.54495173C>A | CA413254482 | FGD1 | c.260G>T (p.Arg87Leu) | gnomAD v4 |