Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.77794475C>A | CA373997655 | GNAQ | c.723G>T (p.Glu241Asp) c.549G>T (p.Glu183Asp) | |
9 | g.77794475C>G | CA373997656 | GNAQ | c.723G>C (p.Glu241Asp) c.549G>C (p.Glu183Asp) | dbSNP |
9 | g.77794475C>T | CA465578290 | GNAQ | c.723G>A (p.Glu241=) c.549G>A (p.Glu183=) | |
9 | g.77794476T>A | CA373997657 | GNAQ | c.722A>T (p.Glu241Val) c.548A>T (p.Glu183Val) | |
9 | g.77794476T>C | CA373997658 | GNAQ | c.722A>G (p.Glu241Gly) c.548A>G (p.Glu183Gly) | |
9 | g.77794476T>G | CA373997659 | GNAQ | c.722A>C (p.Glu241Ala) c.548A>C (p.Glu183Ala) | |
9 | g.77794477C>A | CA373997660 | GNAQ | c.721G>T (p.Glu241Ter) c.547G>T (p.Glu183Ter) | dbSNP |
9 | g.77794477C>G | CA373997661 | GNAQ | c.721G>C (p.Glu241Gln) c.547G>C (p.Glu183Gln) | dbSNP |
9 | g.77794477C>T | CA373997662 | GNAQ | c.721G>A (p.Glu241Lys) c.547G>A (p.Glu183Lys) | dbSNP |
9 | g.77794478del | CA2690385156 | GNAQ | c.721del (p.Glu241SerfsTer?) c.547del (p.Glu183SerfsTer?) | gnomAD v4 |
9 | g.77794478C>A | CA465578291 | GNAQ | c.720G>T (p.Val240=) c.546G>T (p.Val182=) | |
9 | g.77794478C>G | CA465578292 | GNAQ | c.720G>C (p.Val240=) c.546G>C (p.Val182=) | dbSNP |
9 | g.77794478C>T | CA465578293 | GNAQ | c.720G>A (p.Val240=) c.546G>A (p.Val182=) | dbSNP gnomAD v4 |
9 | g.77794479A>C | CA373997663 | GNAQ | c.719T>G (p.Val240Gly) c.545T>G (p.Val182Gly) | dbSNP |
9 | g.77794479A>G | CA373997664 | GNAQ | c.719T>C (p.Val240Ala) c.545T>C (p.Val182Ala) | gnomAD v4 |
9 | g.77794479A>T | CA373997665 | GNAQ | c.719T>A (p.Val240Glu) c.545T>A (p.Val182Glu) | dbSNP |
9 | g.77794480C>A | CA373997666 | GNAQ | c.718G>T (p.Val240Leu) c.544G>T (p.Val182Leu) | dbSNP gnomAD v4 |
9 | g.77794480C= | CA1857429363 | GNAQ | c.718G= (p.Val240=) c.544G= (p.Val182=) | |
9 | g.77794480C>G | CA373997667 | GNAQ | c.718G>C (p.Val240Leu) c.544G>C (p.Val182Leu) | dbSNP |
9 | g.77794480C>T | CA194717254 | GNAQ | c.718G>A (p.Val240Met) c.544G>A (p.Val182Met) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.77794481G>A | CA194717255 | GNAQ | c.717C>T (p.Leu239=) c.543C>T (p.Leu181=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.77794481G>C | CA465578294 | GNAQ | c.717C>G (p.Leu239=) c.543C>G (p.Leu181=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.77794481G= | CA1857429368 | GNAQ | c.717C= (p.Leu239=) c.543C= (p.Leu181=) | |
9 | g.77794481G>T | CA465578295 | GNAQ | c.717C>A (p.Leu239=) c.543C>A (p.Leu181=) | dbSNP gnomAD v4 |
9 | g.77794483_77794484dup | CA2690385157 | GNAQ | c.716_717dup (p.Val240SerfsTer?) c.542_543dup (p.Val182SerfsTer?) | gnomAD v4 |
9 | g.77794482A>C | CA373997670 | GNAQ | c.716T>G (p.Leu239Arg) c.542T>G (p.Leu181Arg) | |
9 | g.77794482A>G | CA373997668 | GNAQ | c.716T>C (p.Leu239Pro) c.542T>C (p.Leu181Pro) | |
9 | g.77794482A>T | CA373997669 | GNAQ | c.716T>A (p.Leu239His) c.542T>A (p.Leu181His) | dbSNP |
9 | g.77794483G>A | CA373997671 | GNAQ | c.715C>T (p.Leu239Phe) c.541C>T (p.Leu181Phe) | dbSNP |
9 | g.77794483G>C | CA373997672 | GNAQ | c.715C>G (p.Leu239Val) c.541C>G (p.Leu181Val) | dbSNP |
9 | g.77794483G>T | CA373997673 | GNAQ | c.715C>A (p.Leu239Ile) c.541C>A (p.Leu181Ile) | dbSNP gnomAD v4 |
9 | g.77794484A>C | CA465578296 | GNAQ | c.714T>G (p.Val238=) c.540T>G (p.Val180=) | |
9 | g.77794484A>G | CA465578297 | GNAQ | c.714T>C (p.Val238=) c.540T>C (p.Val180=) | |
9 | g.77794484A>T | CA465578298 | GNAQ | c.714T>A (p.Val238=) c.540T>A (p.Val180=) | dbSNP |
9 | g.77794485A= | CA1857429373 | GNAQ | c.713T= (p.Val238=) c.539T= (p.Val180=) | |
9 | g.77794485A>C | CA373997674 | GNAQ | c.713T>G (p.Val238Gly) c.539T>G (p.Val180Gly) | |
9 | g.77794485A>G | CA373997675 | GNAQ | c.713T>C (p.Val238Ala) c.539T>C (p.Val180Ala) | dbSNP |
9 | g.77794485A>T | CA373997676 | GNAQ | c.713T>A (p.Val238Asp) c.539T>A (p.Val180Asp) | dbSNP |
9 | g.77794486C>A | CA373997677 | GNAQ | c.712G>T (p.Val238Phe) c.538G>T (p.Val180Phe) | |
9 | g.77794486C>G | CA373997678 | GNAQ | c.712G>C (p.Val238Leu) c.538G>C (p.Val180Leu) | |
9 | g.77794486C>T | CA373997679 | GNAQ | c.712G>A (p.Val238Ile) c.538G>A (p.Val180Ile) | dbSNP COSMIC |
9 | g.77794487T>A | CA373997680 | GNAQ | c.711A>T (p.Gln237His) c.537A>T (p.Gln179His) | dbSNP |
9 | g.77794487T>C | CA465578299 | GNAQ | c.711A>G (p.Gln237=) c.537A>G (p.Gln179=) | dbSNP gnomAD v4 |
9 | g.77794487T>G | CA373997681 | GNAQ | c.711A>C (p.Gln237His) c.537A>C (p.Gln179His) | |
9 | g.77794487T= | CA1857429375 | GNAQ | c.711A= (p.Gln237=) c.537A= (p.Gln179=) | |
9 | g.77794488T>A | CA373997684 | GNAQ | c.710A>T (p.Gln237Leu) c.536A>T (p.Gln179Leu) | dbSNP |
9 | g.77794488T>C | CA373997683 | GNAQ | c.710A>G (p.Gln237Arg) c.536A>G (p.Gln179Arg) | dbSNP |
9 | g.77794488T>G | CA373997682 | GNAQ | c.710A>C (p.Gln237Pro) c.536A>C (p.Gln179Pro) | |
9 | g.77794489G>A | CA373997685 | GNAQ | c.709C>T (p.Gln237Ter) c.535C>T (p.Gln179Ter) | dbSNP |
9 | g.77794489G>C | CA373997686 | GNAQ | c.709C>G (p.Gln237Glu) c.535C>G (p.Gln179Glu) | dbSNP |