Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.72122758_72122769delinsGGCGGAGCGGCT | CA2273925887 | SOX9 | c.471_482delinsGGCGGAGCGGCT (p.Glu157=) | |
17 | g.72122762_72122772del | CA1139665859 | SOX9 | c.475_485del (p.Glu159ArgfsTer?) | ClinVar dbSNP |
17 | g.72122766G>A | CA400866385 | SOX9 | c.479G>A (p.Arg160Gln) | dbSNP |
17 | g.72122766G>C | CA16043055 | SOX9 | c.479G>C (p.Arg160Pro) | ClinVar dbSNP |
17 | g.72122766G= | CA2273925892 | SOX9 | c.479G= (p.Arg160=) | |
17 | g.72122766G>T | CA400866386 | SOX9 | c.479G>T (p.Arg160Leu) | dbSNP |
17 | g.72122767G>A | CA8738930 | SOX9 | c.480G>A (p.Arg160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72122767G>C | CA501432564 | SOX9 | c.480G>C (p.Arg160=) | |
17 | g.72122767G= | CA2273925893 | SOX9 | c.480G= (p.Arg160=) | |
17 | g.72122767G>T | CA501432565 | SOX9 | c.480G>T (p.Arg160=) | dbSNP gnomAD v2 |
17 | g.72122768C>A | CA400866387 | SOX9 | c.481C>A (p.Leu161Met) | |
17 | g.72122768C>G | CA400866388 | SOX9 | c.481C>G (p.Leu161Val) | dbSNP |
17 | g.72122768C>T | CA501432566 | SOX9 | c.481C>T (p.Leu161=) | gnomAD v4 |
17 | g.72122769T>A | CA400866389 | SOX9 | c.482T>A (p.Leu161Gln) | |
17 | g.72122769T>C | CA400866390 | SOX9 | c.482T>C (p.Leu161Pro) | COSMIC |
17 | g.72122769T>G | CA400866391 | SOX9 | c.482T>G (p.Leu161Arg) | |
17 | g.72122770G>A | CA501432567 | SOX9 | c.483G>A (p.Leu161=) | dbSNP COSMIC |
17 | g.72122770G>C | CA501432568 | SOX9 | c.483G>C (p.Leu161=) | dbSNP |
17 | g.72122770G>T | CA501432569 | SOX9 | c.483G>T (p.Leu161=) | dbSNP |
17 | g.72122771C>A | CA400866392 | SOX9 | c.484C>A (p.Arg162Ser) | |
17 | g.72122771C>G | CA400866393 | SOX9 | c.484C>G (p.Arg162Gly) | dbSNP |
17 | g.72122771C>T | CA400866394 | SOX9 | c.484C>T (p.Arg162Cys) | ClinVar dbSNP |
17 | g.72122772G>A | CA8738931 | SOX9 | c.485G>A (p.Arg162His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72122772G>C | CA400866395 | SOX9 | c.485G>C (p.Arg162Pro) | dbSNP |
17 | g.72122772G= | CA2273925894 | SOX9 | c.485G= (p.Arg162=) | |
17 | g.72122772G>T | CA400866396 | SOX9 | c.485G>T (p.Arg162Leu) | |
17 | g.72122773C>A | CA501432570 | SOX9 | c.486C>A (p.Arg162=) | dbSNP gnomAD v4 |
17 | g.72122773C= | CA2273925895 | SOX9 | c.486C= (p.Arg162=) | |
17 | g.72122773C>G | CA501432571 | SOX9 | c.486C>G (p.Arg162=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72122773C>T | CA501432572 | SOX9 | c.486C>T (p.Arg162=) | dbSNP |
17 | g.72122774G>A | CA400866397 | SOX9 | c.487G>A (p.Val163Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.72122774G>C | CA400866398 | SOX9 | c.487G>C (p.Val163Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72122774G= | CA2273925896 | SOX9 | c.487G= (p.Val163=) | |
17 | g.72122774G>T | CA400866399 | SOX9 | c.487G>T (p.Val163Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.72122775_72122776dup | CA645598902 | SOX9 | c.488_489dup (p.Gln164CysfsTer20) | COSMIC |
17 | g.72122775T>A | CA400866400 | SOX9 | c.488T>A (p.Val163Glu) | dbSNP |
17 | g.72122775T>C | CA400866401 | SOX9 | c.488T>C (p.Val163Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72122775T>G | CA400866402 | SOX9 | c.488T>G (p.Val163Gly) | dbSNP |
17 | g.72122775T= | CA2273925897 | SOX9 | c.488T= (p.Val163=) | |
17 | g.72122776G>A | CA501432573 | SOX9 | c.489G>A (p.Val163=) | dbSNP gnomAD v4 |
17 | g.72122776G>C | CA501432574 | SOX9 | c.489G>C (p.Val163=) | dbSNP |
17 | g.72122776G>T | CA501432575 | SOX9 | c.489G>T (p.Val163=) | |
17 | g.72122777C>A | CA400866403 | SOX9 | c.490C>A (p.Gln164Lys) | dbSNP gnomAD v4 |
17 | g.72122777C>G | CA400866404 | SOX9 | c.490C>G (p.Gln164Glu) | dbSNP |
17 | g.72122777C>T | CA400866405 | SOX9 | c.490C>T (p.Gln164Ter) | dbSNP |
17 | g.72122778A= | CA2273925898 | SOX9 | c.491A= (p.Gln164=) | |
17 | g.72122778A>C | CA400866407 | SOX9 | c.491A>C (p.Gln164Pro) | ClinVar dbSNP |
17 | g.72122778A>G | CA400866408 | SOX9 | c.491A>G (p.Gln164Arg) | dbSNP |
17 | g.72122778A>T | CA400866409 | SOX9 | c.491A>T (p.Gln164Leu) | dbSNP |
17 | g.72122779G>A | CA501432576 | SOX9 | c.492G>A (p.Gln164=) | dbSNP gnomAD v2 gnomAD v4 |