Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.72124035_72124041delinsAGCGAAC | CA2273926615 | SOX9 | c.1178_1184delinsAGCGAAC (p.Gln393=) | |
17 | g.72124038_72124043del | CA627589917 | SOX9 | c.1181_1186del (p.Arg394_Thr395del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124037C>A | CA501432864 | SOX9 | c.1180C>A (p.Arg394=) | dbSNP gnomAD v2 |
17 | g.72124037C= | CA2273926616 | SOX9 | c.1180C= (p.Arg394=) | |
17 | g.72124037C>G | CA400867873 | SOX9 | c.1180C>G (p.Arg394Gly) | dbSNP |
17 | g.72124037C>T | CA16043058 | SOX9 | c.1180C>T (p.Arg394Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.72124037dup | CA645598832 | SOX9 | c.1180dup (p.Arg394ProfsTer?) | COSMIC |
17 | g.72124038G>A | CA400867875 | SOX9 | c.1181G>A (p.Arg394Gln) | dbSNP gnomAD v4 COSMIC |
17 | g.72124038G>C | CA400867876 | SOX9 | c.1181G>C (p.Arg394Pro) | dbSNP COSMIC |
17 | g.72124038G>T | CA400867874 | SOX9 | c.1181G>T (p.Arg394Leu) | dbSNP COSMIC |
17 | g.72124039A>C | CA501432865 | SOX9 | c.1182A>C (p.Arg394=) | dbSNP |
17 | g.72124039A>G | CA501432866 | SOX9 | c.1182A>G (p.Arg394=) | dbSNP |
17 | g.72124039A>T | CA501432867 | SOX9 | c.1182A>T (p.Arg394=) | dbSNP |
17 | g.72124040A>C | CA400867877 | SOX9 | c.1183A>C (p.Thr395Pro) | dbSNP |
17 | g.72124040A>G | CA400867878 | SOX9 | c.1183A>G (p.Thr395Ala) | COSMIC |
17 | g.72124040A>T | CA400867879 | SOX9 | c.1183A>T (p.Thr395Ser) | dbSNP |
17 | g.72124041C>A | CA400867880 | SOX9 | c.1184C>A (p.Thr395Lys) | dbSNP |
17 | g.72124041C= | CA2273926617 | SOX9 | c.1184C= (p.Thr395=) | |
17 | g.72124041C>G | CA400867881 | SOX9 | c.1184C>G (p.Thr395Arg) | dbSNP gnomAD v4 |
17 | g.72124041C>T | CA400867882 | SOX9 | c.1184C>T (p.Thr395Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124042_72124043dup | CA645598833 | SOX9 | c.1185_1186dup (p.His396ArgfsTer8) | COSMIC |
17 | g.72124042G>A | CA8739120 | SOX9 | c.1185G>A (p.Thr395=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124042G>C | CA501432868 | SOX9 | c.1185G>C (p.Thr395=) | dbSNP |
17 | g.72124042G= | CA2273926618 | SOX9 | c.1185G= (p.Thr395=) | |
17 | g.72124042G>T | CA8739121 | SOX9 | c.1185G>T (p.Thr395=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124043C>A | CA400867883 | SOX9 | c.1186C>A (p.His396Asn) | |
17 | g.72124043C>G | CA400867884 | SOX9 | c.1186C>G (p.His396Asp) | |
17 | g.72124043C>T | CA400867885 | SOX9 | c.1186C>T (p.His396Tyr) | dbSNP |
17 | g.72124044A>C | CA400867886 | SOX9 | c.1187A>C (p.His396Pro) | dbSNP |
17 | g.72124044A>G | CA400867887 | SOX9 | c.1187A>G (p.His396Arg) | dbSNP |
17 | g.72124044A>T | CA400867888 | SOX9 | c.1187A>T (p.His396Leu) | dbSNP |
17 | g.72124045C>A | CA400867889 | SOX9 | c.1188C>A (p.His396Gln) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124045C= | CA2273926619 | SOX9 | c.1188C= (p.His396=) | |
17 | g.72124045C>G | CA400867890 | SOX9 | c.1188C>G (p.His396Gln) | dbSNP |
17 | g.72124045C>T | CA501432869 | SOX9 | c.1188C>T (p.His396=) | dbSNP |
17 | g.72124046A>C | CA400867891 | SOX9 | c.1189A>C (p.Ile397Leu) | dbSNP |
17 | g.72124046A>G | CA400867893 | SOX9 | c.1189A>G (p.Ile397Val) | |
17 | g.72124046A>T | CA400867892 | SOX9 | c.1189A>T (p.Ile397Phe) | dbSNP |
17 | g.72124047T>A | CA400867894 | SOX9 | c.1190T>A (p.Ile397Asn) | dbSNP |
17 | g.72124047T>C | CA400867895 | SOX9 | c.1190T>C (p.Ile397Thr) | dbSNP |
17 | g.72124047T>G | CA400867896 | SOX9 | c.1190T>G (p.Ile397Ser) | dbSNP |
17 | g.72124048C>A | CA501432870 | SOX9 | c.1191C>A (p.Ile397=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.72124048C= | CA2273926620 | SOX9 | c.1191C= (p.Ile397=) | |
17 | g.72124048C>G | CA400867897 | SOX9 | c.1191C>G (p.Ile397Met) | dbSNP |
17 | g.72124048C>T | CA501432871 | SOX9 | c.1191C>T (p.Ile397=) | dbSNP gnomAD v4 |
17 | g.72124049A>C | CA400867898 | SOX9 | c.1192A>C (p.Lys398Gln) | |
17 | g.72124049A>G | CA400867899 | SOX9 | c.1192A>G (p.Lys398Glu) | dbSNP |
17 | g.72124049A>T | CA400867900 | SOX9 | c.1192A>T (p.Lys398Ter) | dbSNP |
17 | g.72124050A= | CA2273926621 | SOX9 | c.1193A= (p.Lys398=) | |
17 | g.72124050A>C | CA400867901 | SOX9 | c.1193A>C (p.Lys398Thr) |