Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197144049G>A | CA340329 | ASPM | c.349C>T (p.Arg117Ter) n.566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.197144049G>C | CA344021291 | ASPM | c.349C>G (p.Arg117Gly) n.566C>G | |
1 | g.197144049G= | CA1141581335 | ASPM | c.349C= (p.Arg117=) n.566C= | |
1 | g.197144049G>T | CA422804495 | ASPM | c.349C>A (p.Arg117=) n.566C>A | |
1 | g.197144050G>A | CA422804496 | ASPM | c.348C>T (p.Gly116=) n.565C>T | |
1 | g.197144050G>C | CA422804497 | ASPM | c.348C>G (p.Gly116=) n.565C>G | dbSNP |
1 | g.197144050G= | CA1217946822 | ASPM | c.348C= (p.Gly116=) n.565C= | |
1 | g.197144050G>T | CA422804498 | ASPM | c.348C>A (p.Gly116=) n.565C>A | |
1 | g.197144051C>A | CA344021293 | ASPM | c.347G>T (p.Gly116Val) n.564G>T | dbSNP gnomAD v4 |
1 | g.197144051C= | CA1217946823 | ASPM | c.347G= (p.Gly116=) n.564G= | |
1 | g.197144051C>G | CA344021295 | ASPM | c.347G>C (p.Gly116Ala) n.564G>C | |
1 | g.197144051C>T | CA344021297 | ASPM | c.347G>A (p.Gly116Asp) n.564G>A | |
1 | g.197144052C>A | CA344021303 | ASPM | c.346G>T (p.Gly116Cys) n.563G>T | |
1 | g.197144052C= | CA1217946824 | ASPM | c.346G= (p.Gly116=) n.563G= | |
1 | g.197144052C>G | CA344021300 | ASPM | c.346G>C (p.Gly116Arg) n.563G>C | |
1 | g.197144052C>T | CA344021302 | ASPM | c.346G>A (p.Gly116Ser) n.563G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197144053T>A | CA344021305 | ASPM | c.345A>T (p.Glu115Asp) n.562A>T | |
1 | g.197144053T>C | CA422804499 | ASPM | c.345A>G (p.Glu115=) n.562A>G | |
1 | g.197144053T>G | CA344021307 | ASPM | c.345A>C (p.Glu115Asp) n.562A>C | |
1 | g.197144054T>A | CA344021309 | ASPM | c.344A>T (p.Glu115Val) n.561A>T | dbSNP |
1 | g.197144054T>C | CA344021311 | ASPM | c.344A>G (p.Glu115Gly) n.561A>G | |
1 | g.197144054T>G | CA344021314 | ASPM | c.344A>C (p.Glu115Ala) n.561A>C | gnomAD v4 |
1 | g.197144054T= | CA1217946825 | ASPM | c.344A= (p.Glu115=) n.561A= | |
1 | g.197144055C>A | CA344021316 | ASPM | c.343G>T (p.Glu115Ter) n.560G>T | |
1 | g.197144055C= | CA1217946826 | ASPM | c.343G= (p.Glu115=) n.560G= | |
1 | g.197144055C>G | CA344021318 | ASPM | c.343G>C (p.Glu115Gln) n.560G>C | |
1 | g.197144055C>T | CA344021320 | ASPM | c.343G>A (p.Glu115Lys) n.560G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197144055_197144056insCAAA | CA2649664393 | ASPM | c.342_343insTTTG (p.Glu115PhefsTer15) n.559_560insTTTG | gnomAD v4 |
1 | g.197144056T>A | CA344021321 | ASPM | c.342A>T (p.Lys114Asn) n.559A>T | |
1 | g.197144056T>C | CA422804500 | ASPM | c.342A>G (p.Lys114=) n.559A>G | |
1 | g.197144056T>G | CA344021323 | ASPM | c.342A>C (p.Lys114Asn) n.559A>C | |
1 | g.197144057T>A | CA344021325 | ASPM | c.341A>T (p.Lys114Ile) n.558A>T | |
1 | g.197144057T>C | CA344021327 | ASPM | c.341A>G (p.Lys114Arg) n.558A>G | dbSNP |
1 | g.197144057T>G | CA344021329 | ASPM | c.341A>C (p.Lys114Thr) n.558A>C | |
1 | g.197144057T= | CA1217946827 | ASPM | c.341A= (p.Lys114=) n.558A= | |
1 | g.197144058T>A | CA344021333 | ASPM | c.340A>T (p.Lys114Ter) n.557A>T | |
1 | g.197144058T>C | CA344021336 | ASPM | c.340A>G (p.Lys114Glu) n.557A>G | |
1 | g.197144058T>G | CA344021334 | ASPM | c.340A>C (p.Lys114Gln) n.557A>C | gnomAD v4 |
1 | g.197144059G>A | CA422804501 | ASPM | c.339C>T (p.Leu113=) n.556C>T | gnomAD v4 |
1 | g.197144059G>C | CA422804502 | ASPM | c.339C>G (p.Leu113=) n.556C>G | COSMIC |
1 | g.197144059G>T | CA422804503 | ASPM | c.339C>A (p.Leu113=) n.556C>A | |
1 | g.197144060A>C | CA344021338 | ASPM | c.338T>G (p.Leu113Arg) n.555T>G | |
1 | g.197144060A>G | CA344021339 | ASPM | c.338T>C (p.Leu113Pro) n.555T>C | |
1 | g.197144060A>T | CA344021340 | ASPM | c.338T>A (p.Leu113His) n.555T>A | |
1 | g.197144061G>A | CA344021343 | ASPM | c.337C>T (p.Leu113Phe) n.554C>T | |
1 | g.197144061G>C | CA1310903 | ASPM | c.337C>G (p.Leu113Val) n.554C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197144061G= | CA1217946828 | ASPM | c.337C= (p.Leu113=) n.554C= | |
1 | g.197144061G>T | CA344021346 | ASPM | c.337C>A (p.Leu113Ile) n.554C>A | |
1 | g.197144062T>A | CA422804506 | ASPM | c.336A>T (p.Pro112=) n.553A>T | dbSNP |
1 | g.197144062T>C | CA422804504 | ASPM | c.336A>G (p.Pro112=) n.553A>G | gnomAD v4 |