Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17798129_17798130delinsCA | CA2250696615 | RAI1 | c.5181_5182delinsCA (p.Gly1727=) c.4845_4846delinsCA (p.Gly1615=) | |
17 | g.17798130del | CA16620344 | RAI1 | c.5182del (p.Thr1728ProfsTer?) c.4846del (p.Thr1616ProfsTer?) | ClinVar dbSNP |
17 | g.17798130A>C | CA398558519 | RAI1 | c.5182A>C (p.Thr1728Pro) c.4846A>C (p.Thr1616Pro) | |
17 | g.17798130A>G | CA398558517 | RAI1 | c.5182A>G (p.Thr1728Ala) c.4846A>G (p.Thr1616Ala) | |
17 | g.17798130A>T | CA398558518 | RAI1 | c.5182A>T (p.Thr1728Ser) c.4846A>T (p.Thr1616Ser) | |
17 | g.17798131C>A | CA398558520 | RAI1 | c.5183C>A (p.Thr1728Asn) c.4847C>A (p.Thr1616Asn) | |
17 | g.17798131C= | CA2250696624 | RAI1 | c.5183C= (p.Thr1728=) c.4847C= (p.Thr1616=) | |
17 | g.17798131C>G | CA398558521 | RAI1 | c.5183C>G (p.Thr1728Ser) c.4847C>G (p.Thr1616Ser) | |
17 | g.17798131C>T | CA8419105 | RAI1 | c.5183C>T (p.Thr1728Ile) c.4847C>T (p.Thr1616Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17798131_17798134del | CA2555157721 | RAI1 | c.5183_5186del (p.Thr1728MetfsTer?) c.4847_4850del (p.Thr1616MetfsTer?) | |
17 | g.17798132C>A | CA498425667 | RAI1 | c.5184C>A (p.Thr1728=) c.4848C>A (p.Thr1616=) | |
17 | g.17798132C= | CA2250696625 | RAI1 | c.5184C= (p.Thr1728=) c.4848C= (p.Thr1616=) | |
17 | g.17798132C>G | CA498425668 | RAI1 | c.5184C>G (p.Thr1728=) c.4848C>G (p.Thr1616=) | |
17 | g.17798132C>T | CA8419106 | RAI1 | c.5184C>T (p.Thr1728=) c.4848C>T (p.Thr1616=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17798133T>A | CA398558522 | RAI1 | c.5185T>A (p.Cys1729Ser) c.4849T>A (p.Cys1617Ser) | |
17 | g.17798133T>C | CA398558523 | RAI1 | c.5185T>C (p.Cys1729Arg) c.4849T>C (p.Cys1617Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17798133T>G | CA398558524 | RAI1 | c.5185T>G (p.Cys1729Gly) c.4849T>G (p.Cys1617Gly) | |
17 | g.17798133T= | CA2250696627 | RAI1 | c.5185T= (p.Cys1729=) c.4849T= (p.Cys1617=) | |
17 | g.17798134G>A | CA398558525 | RAI1 | c.5186G>A (p.Cys1729Tyr) c.4850G>A (p.Cys1617Tyr) | |
17 | g.17798134G>C | CA288371840 | RAI1 | c.5186G>C (p.Cys1729Ser) c.4850G>C (p.Cys1617Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17798134G= | CA2250696630 | RAI1 | c.5186G= (p.Cys1729=) c.4850G= (p.Cys1617=) | |
17 | g.17798134G>T | CA398558526 | RAI1 | c.5186G>T (p.Cys1729Phe) c.4850G>T (p.Cys1617Phe) | |
17 | g.17798135T>A | CA398558527 | RAI1 | c.5187T>A (p.Cys1729Ter) c.4851T>A (p.Cys1617Ter) | |
17 | g.17798135T>C | CA498425669 | RAI1 | c.5187T>C (p.Cys1729=) c.4851T>C (p.Cys1617=) | |
17 | g.17798135T>G | CA398558528 | RAI1 | c.5187T>G (p.Cys1729Trp) c.4851T>G (p.Cys1617Trp) | |
17 | g.17798136G>A | CA398558529 | RAI1 | c.5188G>A (p.Glu1730Lys) c.4852G>A (p.Glu1618Lys) | |
17 | g.17798136G>C | CA398558531 | RAI1 | c.5188G>C (p.Glu1730Gln) c.4852G>C (p.Glu1618Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17798136G= | CA2250696634 | RAI1 | c.5188G= (p.Glu1730=) c.4852G= (p.Glu1618=) | |
17 | g.17798136G>T | CA398558530 | RAI1 | c.5188G>T (p.Glu1730Ter) c.4852G>T (p.Glu1618Ter) | |
17 | g.17798140_17798142del | CA645573471 | RAI1 | c.5192_5194del (p.Glu1731del) c.4856_4858del (p.Glu1619del) | COSMIC |
17 | g.17798137A>C | CA398558532 | RAI1 | c.5189A>C (p.Glu1730Ala) c.4853A>C (p.Glu1618Ala) | |
17 | g.17798137A>G | CA398558533 | RAI1 | c.5189A>G (p.Glu1730Gly) c.4853A>G (p.Glu1618Gly) | |
17 | g.17798137A>T | CA398558534 | RAI1 | c.5189A>T (p.Glu1730Val) c.4853A>T (p.Glu1618Val) | |
17 | g.17798138G>A | CA288371842 | RAI1 | c.5190G>A (p.Glu1730=) c.4854G>A (p.Glu1618=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17798138G>C | CA398558535 | RAI1 | c.5190G>C (p.Glu1730Asp) c.4854G>C (p.Glu1618Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17798138G= | CA2250696638 | RAI1 | c.5190G= (p.Glu1730=) c.4854G= (p.Glu1618=) | |
17 | g.17798138G>T | CA398558537 | RAI1 | c.5190G>T (p.Glu1730Asp) c.4854G>T (p.Glu1618Asp) | |
17 | g.17798139G>A | CA398558538 | RAI1 | c.5191G>A (p.Glu1731Lys) c.4855G>A (p.Glu1619Lys) | |
17 | g.17798139G>C | CA398558540 | RAI1 | c.5191G>C (p.Glu1731Gln) c.4855G>C (p.Glu1619Gln) | |
17 | g.17798139G>T | CA398558542 | RAI1 | c.5191G>T (p.Glu1731Ter) c.4855G>T (p.Glu1619Ter) | |
17 | g.17798140A>C | CA398558543 | RAI1 | c.5192A>C (p.Glu1731Ala) c.4856A>C (p.Glu1619Ala) | |
17 | g.17798140A>G | CA398558544 | RAI1 | c.5192A>G (p.Glu1731Gly) c.4856A>G (p.Glu1619Gly) | ClinVar |
17 | g.17798140A>T | CA398558546 | RAI1 | c.5192A>T (p.Glu1731Val) c.4856A>T (p.Glu1619Val) | |
17 | g.17798141G>A | CA498425670 | RAI1 | c.5193G>A (p.Glu1731=) c.4857G>A (p.Glu1619=) | |
17 | g.17798141G>C | CA288371843 | RAI1 | c.5193G>C (p.Glu1731Asp) c.4857G>C (p.Glu1619Asp) | dbSNP |
17 | g.17798141G= | CA2250696653 | RAI1 | c.5193G= (p.Glu1731=) c.4857G= (p.Glu1619=) | |
17 | g.17798141G>T | CA398558547 | RAI1 | c.5193G>T (p.Glu1731Asp) c.4857G>T (p.Glu1619Asp) | |
17 | g.17798142G>A | CA398558548 | RAI1 | c.5194G>A (p.Ala1732Thr) c.4858G>A (p.Ala1620Thr) | gnomAD v4 |
17 | g.17798142G>C | CA398558550 | RAI1 | c.5194G>C (p.Ala1732Pro) c.4858G>C (p.Ala1620Pro) | |
17 | g.17798142G>T | CA398558549 | RAI1 | c.5194G>T (p.Ala1732Ser) c.4858G>T (p.Ala1620Ser) |