Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.49457687_49457692del | CA2695206678 | MMUT | c.753_753+5del | |
6 | g.49457689A= | CA1627392053 | MMUT | c.753+2T= (n.753+2T=) | |
6 | g.49457689A>C | CA364403551 | MMUT | c.753+2T>G (n.753+2T>G) | |
6 | g.49457689A>G | CA364403550 | MMUT | c.753+2T>C (n.753+2T>C) | |
6 | g.49457689A>T | CA312780 | MMUT | c.753+2T>A (n.753+2T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457690C>A | CA364403552 | MMUT | c.753+1G>T (n.753+1G>T) | gnomAD v4 |
6 | g.49457690C= | CA1627392054 | MMUT | c.753+1G= (n.753+1G=) | |
6 | g.49457690C>G | CA364403554 | MMUT | c.753+1G>C (n.753+1G>C) | |
6 | g.49457690C>T | CA138799322 | MMUT | c.753+1G>A (n.753+1G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.49457690delinsTAATAACCA | CA2695206679 | MMUT | c.753+1delinsTGGTTATTA (n.753+1delinsTGGTTATTA) | |
6 | g.49457691C>A | CA364403556 | MMUT | c.753G>T (p.Lys251Asn) | |
6 | g.49457691C= | CA1627392055 | MMUT | c.753G= (p.Lys251=) | |
6 | g.49457691C>G | CA234289 | MMUT | c.753G>C (p.Lys251Asn) | ClinVar dbSNP |
6 | g.49457691C>T | CA450608731 | MMUT | c.753G>A (p.Lys251=) | dbSNP gnomAD v2 |
6 | g.49457692T>A | CA364403562 | MMUT | c.752A>T (p.Lys251Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457692T>C | CA364403568 | MMUT | c.752A>G (p.Lys251Arg) | |
6 | g.49457692T>G | CA364403571 | MMUT | c.752A>C (p.Lys251Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457692T= | CA1627392056 | MMUT | c.752A= (p.Lys251=) | |
6 | g.49457693T>A | CA364403575 | MMUT | c.751A>T (p.Lys251Ter) | ClinVar dbSNP |
6 | g.49457693T>C | CA364403581 | MMUT | c.751A>G (p.Lys251Glu) | dbSNP gnomAD v2 |
6 | g.49457693T>G | CA364403583 | MMUT | c.751A>C (p.Lys251Gln) | |
6 | g.49457693T= | CA1627392057 | MMUT | c.751A= (p.Lys251=) | |
6 | g.49457694T>A | CA450608732 | MMUT | c.750A>T (p.Ala250=) | |
6 | g.49457694T>C | CA450608733 | MMUT | c.750A>G (p.Ala250=) | |
6 | g.49457694T>G | CA450608734 | MMUT | c.750A>C (p.Ala250=) | |
6 | g.49457695G>A | CA364403599 | MMUT | c.749C>T (p.Ala250Val) | |
6 | g.49457695G>C | CA364403596 | MMUT | c.749C>G (p.Ala250Gly) | |
6 | g.49457695G>T | CA364403587 | MMUT | c.749C>A (p.Ala250Glu) | |
6 | g.49457696C>A | CA364403603 | MMUT | c.748G>T (p.Ala250Ser) | |
6 | g.49457696C= | CA1627392058 | MMUT | c.748G= (p.Ala250=) | |
6 | g.49457696C>G | CA364403604 | MMUT | c.748G>C (p.Ala250Pro) | |
6 | g.49457696C>T | CA364403605 | MMUT | c.748G>A (p.Ala250Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457697T>A | CA450608735 | MMUT | c.747A>T (p.Thr249=) | |
6 | g.49457697T>C | CA450608736 | MMUT | c.747A>G (p.Thr249=) | gnomAD v4 |
6 | g.49457697T>G | CA450608737 | MMUT | c.747A>C (p.Thr249=) | dbSNP |
6 | g.49457697T= | CA1627392059 | MMUT | c.747A= (p.Thr249=) | |
6 | g.49457698G>A | CA3847057 | MMUT | c.746C>T (p.Thr249Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457698G>C | CA364403606 | MMUT | c.746C>G (p.Thr249Arg) | |
6 | g.49457698G= | CA1627392060 | MMUT | c.746C= (p.Thr249=) | |
6 | g.49457698G>T | CA364403607 | MMUT | c.746C>A (p.Thr249Lys) | |
6 | g.49457699T>A | CA364403610 | MMUT | c.745A>T (p.Thr249Ser) | |
6 | g.49457699T>C | CA364403619 | MMUT | c.745A>G (p.Thr249Ala) | dbSNP |
6 | g.49457699T>G | CA364403617 | MMUT | c.745A>C (p.Thr249Pro) | |
6 | g.49457700A= | CA1627392061 | MMUT | c.744T= (p.Tyr248=) | |
6 | g.49457700A>C | CA364403622 | MMUT | c.744T>G (p.Tyr248Ter) | |
6 | g.49457700A>G | CA3847058 | MMUT | c.744T>C (p.Tyr248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49457700A>T | CA364403628 | MMUT | c.744T>A (p.Tyr248Ter) | |
6 | g.49457701T>A | CA364403641 | MMUT | c.743A>T (p.Tyr248Phe) | |
6 | g.49457701T>C | CA3847059 | MMUT | c.743A>G (p.Tyr248Cys) | ClinVar dbSNP ExAC |
6 | g.49457701T>G | CA364403646 | MMUT | c.743A>C (p.Tyr248Ser) | gnomAD v4 |