Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17798030C>A | CA498425519 | RAI1 | c.5082C>A (p.Ala1694=) c.4746C>A (p.Ala1582=) | |
17 | g.17798030C>G | CA498425520 | RAI1 | c.5082C>G (p.Ala1694=) c.4746C>G (p.Ala1582=) | ClinVar gnomAD v4 |
17 | g.17798030C>T | CA498425521 | RAI1 | c.5082C>T (p.Ala1694=) c.4746C>T (p.Ala1582=) | |
17 | g.17798031A>C | CA398558288 | RAI1 | c.5083A>C (p.Asn1695His) c.4747A>C (p.Asn1583His) | |
17 | g.17798031A>G | CA398558290 | RAI1 | c.5083A>G (p.Asn1695Asp) c.4747A>G (p.Asn1583Asp) | |
17 | g.17798031A>T | CA398558289 | RAI1 | c.5083A>T (p.Asn1695Tyr) c.4747A>T (p.Asn1583Tyr) | |
17 | g.17798032A>C | CA398558291 | RAI1 | c.5084A>C (p.Asn1695Thr) c.4748A>C (p.Asn1583Thr) | |
17 | g.17798032A>G | CA398558292 | RAI1 | c.5084A>G (p.Asn1695Ser) c.4748A>G (p.Asn1583Ser) | |
17 | g.17798032A>T | CA398558293 | RAI1 | c.5084A>T (p.Asn1695Ile) c.4748A>T (p.Asn1583Ile) | |
17 | g.17798033C>A | CA398558294 | RAI1 | c.5085C>A (p.Asn1695Lys) c.4749C>A (p.Asn1583Lys) | |
17 | g.17798033C>G | CA398558295 | RAI1 | c.5085C>G (p.Asn1695Lys) c.4749C>G (p.Asn1583Lys) | |
17 | g.17798033C>T | CA498425524 | RAI1 | c.5085C>T (p.Asn1695=) c.4749C>T (p.Asn1583=) | |
17 | g.17798034T>A | CA398558296 | RAI1 | c.5086T>A (p.Phe1696Ile) c.4750T>A (p.Phe1584Ile) | gnomAD v4 |
17 | g.17798034T>C | CA398558297 | RAI1 | c.5086T>C (p.Phe1696Leu) c.4750T>C (p.Phe1584Leu) | |
17 | g.17798034T>G | CA398558298 | RAI1 | c.5086T>G (p.Phe1696Val) c.4750T>G (p.Phe1584Val) | |
17 | g.17798035T>A | CA398558299 | RAI1 | c.5087T>A (p.Phe1696Tyr) c.4751T>A (p.Phe1584Tyr) | |
17 | g.17798035T>C | CA398558300 | RAI1 | c.5087T>C (p.Phe1696Ser) c.4751T>C (p.Phe1584Ser) | dbSNP gnomAD v4 |
17 | g.17798035T>G | CA398558301 | RAI1 | c.5087T>G (p.Phe1696Cys) c.4751T>G (p.Phe1584Cys) | |
17 | g.17798035T= | CA2250696481 | RAI1 | c.5087T= (p.Phe1696=) c.4751T= (p.Phe1584=) | |
17 | g.17798036C>A | CA398558302 | RAI1 | c.5088C>A (p.Phe1696Leu) c.4752C>A (p.Phe1584Leu) | gnomAD v4 |
17 | g.17798036C= | CA2250696484 | RAI1 | c.5088C= (p.Phe1696=) c.4752C= (p.Phe1584=) | |
17 | g.17798036C>G | CA398558303 | RAI1 | c.5088C>G (p.Phe1696Leu) c.4752C>G (p.Phe1584Leu) | |
17 | g.17798036C>T | CA498425529 | RAI1 | c.5088C>T (p.Phe1696=) c.4752C>T (p.Phe1584=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17798037A>C | CA398558304 | RAI1 | c.5089A>C (p.Lys1697Gln) c.4753A>C (p.Lys1585Gln) | |
17 | g.17798037A>G | CA398558306 | RAI1 | c.5089A>G (p.Lys1697Glu) c.4753A>G (p.Lys1585Glu) | |
17 | g.17798037A>T | CA398558305 | RAI1 | c.5089A>T (p.Lys1697Ter) c.4753A>T (p.Lys1585Ter) | |
17 | g.17798038A= | CA2250696491 | RAI1 | c.5090A= (p.Lys1697=) c.4754A= (p.Lys1585=) | |
17 | g.17798038A>C | CA398558307 | RAI1 | c.5090A>C (p.Lys1697Thr) c.4754A>C (p.Lys1585Thr) | |
17 | g.17798038A>G | CA398558308 | RAI1 | c.5090A>G (p.Lys1697Arg) c.4754A>G (p.Lys1585Arg) | dbSNP |
17 | g.17798038A>T | CA398558309 | RAI1 | c.5090A>T (p.Lys1697Met) c.4754A>T (p.Lys1585Met) | |
17 | g.17798039G>A | CA498425534 | RAI1 | c.5091G>A (p.Lys1697=) c.4755G>A (p.Lys1585=) | |
17 | g.17798039G>C | CA398558310 | RAI1 | c.5091G>C (p.Lys1697Asn) c.4755G>C (p.Lys1585Asn) | |
17 | g.17798039G>T | CA398558311 | RAI1 | c.5091G>T (p.Lys1697Asn) c.4755G>T (p.Lys1585Asn) | |
17 | g.17798040G>A | CA398558312 | RAI1 | c.5092G>A (p.Asp1698Asn) c.4756G>A (p.Asp1586Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17798040G>C | CA398558313 | RAI1 | c.5092G>C (p.Asp1698His) c.4756G>C (p.Asp1586His) | |
17 | g.17798040G= | CA2250696496 | RAI1 | c.5092G= (p.Asp1698=) c.4756G= (p.Asp1586=) | |
17 | g.17798040G>T | CA398558315 | RAI1 | c.5092G>T (p.Asp1698Tyr) c.4756G>T (p.Asp1586Tyr) | |
17 | g.17798041A>C | CA398558317 | RAI1 | c.5093A>C (p.Asp1698Ala) c.4757A>C (p.Asp1586Ala) | |
17 | g.17798041A>G | CA398558318 | RAI1 | c.5093A>G (p.Asp1698Gly) c.4757A>G (p.Asp1586Gly) | |
17 | g.17798041A>T | CA398558319 | RAI1 | c.5093A>T (p.Asp1698Val) c.4757A>T (p.Asp1586Val) | |
17 | g.17798042C>A | CA398558321 | RAI1 | c.5094C>A (p.Asp1698Glu) c.4758C>A (p.Asp1586Glu) | gnomAD v4 |
17 | g.17798042C>G | CA398558320 | RAI1 | c.5094C>G (p.Asp1698Glu) c.4758C>G (p.Asp1586Glu) | |
17 | g.17798042C>T | CA498425538 | RAI1 | c.5094C>T (p.Asp1698=) c.4758C>T (p.Asp1586=) | gnomAD v4 |
17 | g.17798043C>A | CA398558322 | RAI1 | c.5095C>A (p.Leu1699Ile) c.4759C>A (p.Leu1587Ile) | |
17 | g.17798043C= | CA2250696499 | RAI1 | c.5095C= (p.Leu1699=) c.4759C= (p.Leu1587=) | |
17 | g.17798043C>G | CA398558324 | RAI1 | c.5095C>G (p.Leu1699Val) c.4759C>G (p.Leu1587Val) | |
17 | g.17798043C>T | CA398558323 | RAI1 | c.5095C>T (p.Leu1699Phe) c.4759C>T (p.Leu1587Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17798044T>A | CA398558325 | RAI1 | c.5096T>A (p.Leu1699His) c.4760T>A (p.Leu1587His) | |
17 | g.17798044T>C | CA398558326 | RAI1 | c.5096T>C (p.Leu1699Pro) c.4760T>C (p.Leu1587Pro) | |
17 | g.17798044T>G | CA398558327 | RAI1 | c.5096T>G (p.Leu1699Arg) c.4760T>G (p.Leu1587Arg) |