17 | g.72123521C= | CA2273926314 | SOX9 | c.686-22C= (n.686-22C=)
| |
17 | g.72123521C>G | CA2733970666 | SOX9 | c.686-22C>G (n.686-22C>G)
| dbSNP |
17 | g.72123521C>T | CA986080558 | SOX9 | c.686-22C>T (n.686-22C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123522T>A | CA986080563 | SOX9 | c.686-21T>A (n.686-21T>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123522T>C | CA2733932134 | SOX9 | c.686-21T>C (n.686-21T>C)
| dbSNP |
17 | g.72123522T>G | CA8739005 | SOX9 | c.686-21T>G (n.686-21T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123522T= | CA2273926315 | SOX9 | c.686-21T= (n.686-21T=)
| |
17 | g.72123523T>A | CA2734002493 | SOX9 | c.686-20T>A (n.686-20T>A)
| dbSNP |
17 | g.72123523T>C | CA2639603105 | SOX9 | c.686-20T>C (n.686-20T>C)
| dbSNP gnomAD v4 |
17 | g.72123524G>A | CA2639603106 | SOX9 | c.686-19G>A (n.686-19G>A)
| gnomAD v4 |
17 | g.72123524G>C | CA774800567 | SOX9 | c.686-19G>C (n.686-19G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123524G= | CA2273926316 | SOX9 | c.686-19G= (n.686-19G=)
| |
17 | g.72123524G>T | CA2639603107 | SOX9 | c.686-19G>T (n.686-19G>T)
| gnomAD v4 |
17 | g.72123525T>A | CA2734002600 | SOX9 | c.686-18T>A (n.686-18T>A)
| dbSNP |
17 | g.72123525T>C | CA2597776566 | SOX9 | c.686-18T>C (n.686-18T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123525T>G | CA2734002579 | SOX9 | c.686-18T>G (n.686-18T>G)
| dbSNP |
17 | g.72123526T>C | CA2734002603 | SOX9 | c.686-17T>C (n.686-17T>C)
| dbSNP |
17 | g.72123527C>A | CA774800573 | SOX9 | c.686-16C>A (n.686-16C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123527C= | CA2273926317 | SOX9 | c.686-16C= (n.686-16C=)
| |
17 | g.72123527C>G | CA2273926318 | SOX9 | c.686-16C>G (n.686-16C>G)
| dbSNP |
17 | g.72123527C>T | CA627589960 | SOX9 | c.686-16C>T (n.686-16C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123528T>A | CA2733961212 | SOX9 | c.686-15T>A (n.686-15T>A)
| dbSNP |
17 | g.72123528T>C | CA627589961 | SOX9 | c.686-15T>C (n.686-15T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123528T>G | CA2576374511 | SOX9 | c.686-15T>G (n.686-15T>G)
| |
17 | g.72123528T= | CA2273926319 | SOX9 | c.686-15T= (n.686-15T=)
| |
17 | g.72123529T>C | CA2734002607 | SOX9 | c.686-14T>C (n.686-14T>C)
| dbSNP |
17 | g.72123529_72123532delinsTTTA | CA2273926320 | SOX9 | c.686-14_686-11delinsTTTA (n.686-14_686-11delinsTTTA)
| |
17 | g.72123530T>A | CA2733953642 | SOX9 | c.686-13T>A (n.686-13T>A)
| dbSNP |
17 | g.72123530T>C | CA627589962 | SOX9 | c.686-13T>C (n.686-13T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123530T= | CA2273926321 | SOX9 | c.686-13T= (n.686-13T=)
| |
17 | g.72123532_72123534del | CA2273926322 | SOX9 | c.686-11_686-9del (n.686-11_686-9del)
| dbSNP |
17 | g.72123532A>C | CA2734002617 | SOX9 | c.686-11A>C (n.686-11A>C)
| dbSNP |
17 | g.72123533T>C | CA8739006 | SOX9 | c.686-10T>C (n.686-10T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123533T= | CA2273926323 | SOX9 | c.686-10T= (n.686-10T=)
| |
17 | g.72123534T>C | CA8739008 | SOX9 | c.686-9T>C (n.686-9T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123534T>G | CA2576374512 | SOX9 | c.686-9T>G (n.686-9T>G)
| |
17 | g.72123534T= | CA2273926324 | SOX9 | c.686-9T= (n.686-9T=)
| |
17 | g.72123534_72123535delinsTG | CA2273926325 | SOX9 | c.686-9_686-8delinsTG (n.686-9_686-8delinsTG)
| |
17 | g.72123535del | CA8739007 | SOX9 | c.686-8del (n.686-8del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123535G>A | CA2273926327 | SOX9 | c.686-8G>A (n.686-8G>A)
| dbSNP |
17 | g.72123535G>C | CA2733970668 | SOX9 | c.686-8G>C (n.686-8G>C)
| dbSNP |
17 | g.72123535G= | CA2273926326 | SOX9 | c.686-8G= (n.686-8G=)
| |
17 | g.72123536del | CA400866828 | SOX9 | c.686-7del (n.686-7del)
| |
17 | g.72123536T>C | CA2273926329 | SOX9 | c.686-7T>C (n.686-7T>C)
| dbSNP |
17 | g.72123536T= | CA2273926328 | SOX9 | c.686-7T= (n.686-7T=)
| |
17 | g.72123537C>T | CA2639603108 | SOX9 | c.686-6C>T (n.686-6C>T)
| gnomAD v4 |
17 | g.72123538C>T | CA2639603110 | SOX9 | c.686-5C>T (n.686-5C>T)
| dbSNP gnomAD v4 |
17 | g.72123540_72123541del | CA2639603109 | SOX9 | c.686-3_686-2del (n.686-3_686-2del)
| gnomAD v4 |
17 | g.72123539A>C | CA2734002652 | SOX9 | c.686-4A>C (n.686-4A>C)
| dbSNP |
17 | g.72123539A>G | CA2639603111 | SOX9 | c.686-4A>G (n.686-4A>G)
| dbSNP gnomAD v4 |
17 | g.72123539A>T | CA2734002679 | SOX9 | c.686-4A>T (n.686-4A>T)
| dbSNP |
17 | g.72123540C>A | CA2733970669 | SOX9 | c.686-3C>A (n.686-3C>A)
| dbSNP |
17 | g.72123540C= | CA2273926330 | SOX9 | c.686-3C= (n.686-3C=)
| |
17 | g.72123540C>G | CA2733970670 | SOX9 | c.686-3C>G (n.686-3C>G)
| dbSNP |
17 | g.72123540C>T | CA2273926331 | SOX9 | c.686-3C>T (n.686-3C>T)
| ClinVar dbSNP |
17 | g.72123541A>C | CA400866829 | SOX9 | c.686-2A>C (n.686-2A>C)
| |
17 | g.72123541A>G | CA400866830 | SOX9 | c.686-2A>G (n.686-2A>G)
| ClinVar dbSNP |
17 | g.72123541A>T | CA400866831 | SOX9 | c.686-2A>T (n.686-2A>T)
| dbSNP |
17 | g.72123542G>A | CA400866832 | SOX9 | c.686-1G>A (n.686-1G>A)
| dbSNP |
17 | g.72123542G>C | CA400866834 | SOX9 | c.686-1G>C (n.686-1G>C)
| dbSNP |
17 | g.72123542G>T | CA400866833 | SOX9 | c.686-1G>T (n.686-1G>T)
| dbSNP |
17 | g.72123543G>A | CA400866835 | SOX9 | c.686G>A (p.Gly229Glu)
| dbSNP |
17 | g.72123543G>C | CA400866836 | SOX9 | c.686G>C (p.Gly229Ala)
| dbSNP |
17 | g.72123543G>T | CA400866837 | SOX9 | c.686G>T (p.Gly229Val)
| dbSNP |
17 | g.72123544G>A | CA8739009 | SOX9 | c.687G>A (p.Gly229=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123544G>C | CA501351955 | SOX9 | c.687G>C (p.Gly229=)
| dbSNP |
17 | g.72123544G= | CA2273926332 | SOX9 | c.687G= (p.Gly229=)
| |
17 | g.72123544G>T | CA501351956 | SOX9 | c.687G>T (p.Gly229=)
| dbSNP |
17 | g.72123544_72123563dup | CA645598912 | SOX9 | c.687_706dup (p.Thr236SerfsTer24)
| COSMIC |
17 | g.72123545C>A | CA400866838 | SOX9 | c.688C>A (p.Gln230Lys)
| dbSNP |
17 | g.72123545C>G | CA400866839 | SOX9 | c.688C>G (p.Gln230Glu)
| dbSNP |
17 | g.72123545C>T | CA400866840 | SOX9 | c.688C>T (p.Gln230Ter)
| dbSNP |
17 | g.72123546A>C | CA400866841 | SOX9 | c.689A>C (p.Gln230Pro)
| |
17 | g.72123546A>G | CA400866842 | SOX9 | c.689A>G (p.Gln230Arg)
| dbSNP |
17 | g.72123546A>T | CA400866843 | SOX9 | c.689A>T (p.Gln230Leu)
| |
17 | g.72123547A= | CA2273926333 | SOX9 | c.690A= (p.Gln230=)
| |
17 | g.72123547A>C | CA400866844 | SOX9 | c.690A>C (p.Gln230His)
| dbSNP |
17 | g.72123547A>G | CA501351957 | SOX9 | c.690A>G (p.Gln230=)
| dbSNP |
17 | g.72123547A>T | CA400866845 | SOX9 | c.690A>T (p.Gln230His)
| dbSNP |
17 | g.72123548T>A | CA400866848 | SOX9 | c.691T>A (p.Ser231Thr)
| |
17 | g.72123548T>C | CA400866846 | SOX9 | c.691T>C (p.Ser231Pro)
| |
17 | g.72123548T>G | CA400866847 | SOX9 | c.691T>G (p.Ser231Ala)
| dbSNP |
17 | g.72123549C>A | CA400866849 | SOX9 | c.692C>A (p.Ser231Tyr)
| dbSNP |
17 | g.72123549C>G | CA400866850 | SOX9 | c.692C>G (p.Ser231Cys)
| dbSNP |
17 | g.72123549C>T | CA400866851 | SOX9 | c.692C>T (p.Ser231Phe)
| dbSNP |
17 | g.72123550C>A | CA501351958 | SOX9 | c.693C>A (p.Ser231=)
| COSMIC |
17 | g.72123550C>G | CA501351959 | SOX9 | c.693C>G (p.Ser231=)
| |
17 | g.72123550C>T | CA501351960 | SOX9 | c.693C>T (p.Ser231=)
| gnomAD v4 |
17 | g.72123551C>A | CA400866852 | SOX9 | c.694C>A (p.Gln232Lys)
| dbSNP |
17 | g.72123551C>G | CA400866853 | SOX9 | c.694C>G (p.Gln232Glu)
| dbSNP |
17 | g.72123551C>T | CA400866854 | SOX9 | c.694C>T (p.Gln232Ter)
| dbSNP |
17 | g.72123552A>C | CA400866857 | SOX9 | c.695A>C (p.Gln232Pro)
| dbSNP |
17 | g.72123552A>G | CA400866855 | SOX9 | c.695A>G (p.Gln232Arg)
| dbSNP |
17 | g.72123552A>T | CA400866856 | SOX9 | c.695A>T (p.Gln232Leu)
| dbSNP gnomAD v4 |
17 | g.72123553G>A | CA501351961 | SOX9 | c.696G>A (p.Gln232=)
| dbSNP gnomAD v4 |
17 | g.72123553G>C | CA293783235 | SOX9 | c.696G>C (p.Gln232His)
| dbSNP |
17 | g.72123553G= | CA2273926334 | SOX9 | c.696G= (p.Gln232=)
| |
17 | g.72123553G>T | CA400866858 | SOX9 | c.696G>T (p.Gln232His)
| dbSNP |
17 | g.72123554G>A | CA400866859 | SOX9 | c.697G>A (p.Gly233Ser)
| dbSNP |
17 | g.72123554G>C | CA400866860 | SOX9 | c.697G>C (p.Gly233Arg)
| dbSNP |
17 | g.72123554G>T | CA400866861 | SOX9 | c.697G>T (p.Gly233Cys)
| dbSNP |
17 | g.72123555G>A | CA400866864 | SOX9 | c.698G>A (p.Gly233Asp)
| dbSNP |
17 | g.72123555G>C | CA400866862 | SOX9 | c.698G>C (p.Gly233Ala)
| dbSNP |
17 | g.72123555G>T | CA400866863 | SOX9 | c.698G>T (p.Gly233Val)
| dbSNP |
17 | g.72123556C>A | CA501351962 | SOX9 | c.699C>A (p.Gly233=)
| dbSNP |
17 | g.72123556C>G | CA501351963 | SOX9 | c.699C>G (p.Gly233=)
| dbSNP |
17 | g.72123556C>T | CA501351964 | SOX9 | c.699C>T (p.Gly233=)
| dbSNP |
17 | g.72123557_72123558dup | CA645598913 | SOX9 | c.700_701dup (p.Pro235HisfsTer19)
| COSMIC |
17 | g.72123557C>A | CA400866865 | SOX9 | c.700C>A (p.Pro234Thr)
| dbSNP |
17 | g.72123557C>G | CA400866866 | SOX9 | c.700C>G (p.Pro234Ala)
| dbSNP gnomAD v4 |
17 | g.72123557C>T | CA400866867 | SOX9 | c.700C>T (p.Pro234Ser)
| dbSNP |
17 | g.72123558C>A | CA400866868 | SOX9 | c.701C>A (p.Pro234Gln)
| dbSNP |
17 | g.72123558C>G | CA400866869 | SOX9 | c.701C>G (p.Pro234Arg)
| dbSNP |
17 | g.72123558C>T | CA400866870 | SOX9 | c.701C>T (p.Pro234Leu)
| dbSNP |
17 | g.72123559A= | CA2273926335 | SOX9 | c.702A= (p.Pro234=)
| |
17 | g.72123559A>C | CA501351965 | SOX9 | c.702A>C (p.Pro234=)
| dbSNP |
17 | g.72123559A>G | CA501351966 | SOX9 | c.702A>G (p.Pro234=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123559A>T | CA501351967 | SOX9 | c.702A>T (p.Pro234=)
| dbSNP |
17 | g.72123560C>A | CA400866871 | SOX9 | c.703C>A (p.Pro235Thr)
| |
17 | g.72123560C>G | CA400866872 | SOX9 | c.703C>G (p.Pro235Ala)
| dbSNP COSMIC |
17 | g.72123560C>T | CA400866873 | SOX9 | c.703C>T (p.Pro235Ser)
| dbSNP |
17 | g.72123561C>A | CA293783242 | SOX9 | c.704C>A (p.Pro235Gln)
| dbSNP |
17 | g.72123561C= | CA2273926336 | SOX9 | c.704C= (p.Pro235=)
| |
17 | g.72123561C>G | CA400866874 | SOX9 | c.704C>G (p.Pro235Arg)
| dbSNP |
17 | g.72123561C>T | CA400866875 | SOX9 | c.704C>T (p.Pro235Leu)
| ClinVar dbSNP |
17 | g.72123562G>A | CA501351968 | SOX9 | c.705G>A (p.Pro235=)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123562G>C | CA501351970 | SOX9 | c.705G>C (p.Pro235=)
| dbSNP |
17 | g.72123562G>T | CA501351969 | SOX9 | c.705G>T (p.Pro235=)
| dbSNP |
17 | g.72123562dup | CA2759522132 | SOX9 | c.705dup (p.Thr236AspfsTer16)
| |
17 | g.72123562_72123563del | CA2497030132 | SOX9 | c.705_706del (p.Thr236ProfsTer15)
| |
17 | g.72123562_72123563insC | CA2573050687 | SOX9 | c.705_706insC (p.Thr236HisfsTer16)
| dbSNP |
17 | g.72123562_72123563insCC | CA2573320478 | SOX9 | c.705_706insCC (p.Thr236ProfsTer18)
| |
17 | g.72123562_72123563insCCCCCCCCCCCC | CA2573130126 | SOX9 | c.705_706insCCCCCCCCCCCC (p.Pro235_Thr236insProProProPro)
| |
17 | g.72123563A>C | CA400866876 | SOX9 | c.706A>C (p.Thr236Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123563A>G | CA400866878 | SOX9 | c.706A>G (p.Thr236Ala)
| dbSNP |
17 | g.72123563A>T | CA400866877 | SOX9 | c.706A>T (p.Thr236Ser)
| dbSNP |
17 | g.72123563_72123564delinsAC | CA2273926337 | SOX9 | c.706_707delinsAC (p.Thr236=)
| |
17 | g.72123564C>A | CA400866879 | SOX9 | c.707C>A (p.Thr236Asn)
| gnomAD v4 |
17 | g.72123564C>G | CA400866881 | SOX9 | c.707C>G (p.Thr236Ser)
| |
17 | g.72123564C>T | CA400866880 | SOX9 | c.707C>T (p.Thr236Ile)
| |
17 | g.72123567_72123568insCCCCCCCC | CA2639603113 | SOX9 | c.710_711insCCCCCCCC (p.Thr239ProfsTer17)
| gnomAD v4 |
17 | g.72123567_72123568insCCCCCCCCC | CA2810344952 | SOX9 | c.710_711insCCCCCCCCC (p.Pro237_Pro238insProProPro)
| |
17 | g.72123567_72123568insCCCCCCCCCC | CA2639603114 | SOX9 | c.710_711insCCCCCCCCCC (p.Thr239ProfsTer16)
| gnomAD v4 |
17 | g.72123567dup | CA627589965 | SOX9 | c.710dup (p.Pro238ThrfsTer14)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123566_72123567dup | CA627589966 | SOX9 | c.709_710dup (p.Pro238HisfsTer16)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123565_72123567dup | CA2579753818 | SOX9 | c.708_710dup (p.Pro237_Pro238insPro)
| gnomAD v4 |
17 | g.72123564_72123567dup | CA2639603112 | SOX9 | c.707_710dup (p.Thr240HisfsTer13)
| gnomAD v4 |
17 | g.72123567del | CA2273926338 | SOX9 | c.710del (p.Pro237HisfsTer16)
| ClinVar dbSNP |
17 | g.72123565C>A | CA501351973 | SOX9 | c.708C>A (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123565C>G | CA501351972 | SOX9 | c.708C>G (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123565C>T | CA501351971 | SOX9 | c.708C>T (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123571_72123574del | CA2639603115 | SOX9 | c.714_717del (p.Thr239ProfsTer13)
| gnomAD v4 |
17 | g.72123566C>A | CA400866882 | SOX9 | c.709C>A (p.Pro237Thr)
| dbSNP |
17 | g.72123566C>G | CA400866883 | SOX9 | c.709C>G (p.Pro237Ala)
| dbSNP |
17 | g.72123566C>T | CA400866884 | SOX9 | c.709C>T (p.Pro237Ser)
| dbSNP |
17 | g.72123567C>A | CA400866885 | SOX9 | c.710C>A (p.Pro237Gln)
| dbSNP |
17 | g.72123567C>G | CA400866886 | SOX9 | c.710C>G (p.Pro237Arg)
| dbSNP |
17 | g.72123567C>T | CA400866887 | SOX9 | c.710C>T (p.Pro237Leu)
| dbSNP |
17 | g.72123568A= | CA2273926339 | SOX9 | c.711A= (p.Pro237=)
| |
17 | g.72123568A>C | CA501351974 | SOX9 | c.711A>C (p.Pro237=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123568A>G | CA501351976 | SOX9 | c.711A>G (p.Pro237=)
| |
17 | g.72123568A>T | CA501351975 | SOX9 | c.711A>T (p.Pro237=)
| |
17 | g.72123569C>A | CA400866888 | SOX9 | c.712C>A (p.Pro238Thr)
| dbSNP |
17 | g.72123569C= | CA2273926340 | SOX9 | c.712C= (p.Pro238=)
| |
17 | g.72123569C>G | CA400866889 | SOX9 | c.712C>G (p.Pro238Ala)
| dbSNP gnomAD v2 |
17 | g.72123569C>T | CA400866890 | SOX9 | c.712C>T (p.Pro238Ser)
| dbSNP |
17 | g.72123571dup | CA986080591 | SOX9 | c.714dup (p.Thr239HisfsTer13)
| gnomAD v3 gnomAD v4 |
17 | g.72123570_72123571dup | CA2639603116 | SOX9 | c.713_714dup (p.Thr239ProfsTer15)
| gnomAD v4 |
17 | g.72123570C>A | CA400866891 | SOX9 | c.713C>A (p.Pro238His)
| dbSNP |
17 | g.72123570C>G | CA400866892 | SOX9 | c.713C>G (p.Pro238Arg)
| |
17 | g.72123570C>T | CA400866893 | SOX9 | c.713C>T (p.Pro238Leu)
| dbSNP |
17 | g.72123571C>A | CA501351977 | SOX9 | c.714C>A (p.Pro238=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123571C= | CA2273926341 | SOX9 | c.714C= (p.Pro238=)
| |
17 | g.72123571C>G | CA293783248 | SOX9 | c.714C>G (p.Pro238=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123571C>T | CA501351978 | SOX9 | c.714C>T (p.Pro238=)
| |
17 | g.72123571_72123572insCCCCCCCCCCAA | CA2639603117 | SOX9 | c.714_715insCCCCCCCCCCAA (p.Pro238_Thr239insProProProGln)
| gnomAD v4 |
17 | g.72123571_72123572insCCCCCCCCCCCA | CA2499306824 | SOX9 | c.714_715insCCCCCCCCCCCA (p.Pro238_Thr239insProProProPro)
| |
17 | g.72123572A= | CA2273926342 | SOX9 | c.715A= (p.Thr239=)
| |
17 | g.72123572A>C | CA400866894 | SOX9 | c.715A>C (p.Thr239Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123572A>G | CA400866896 | SOX9 | c.715A>G (p.Thr239Ala)
| |
17 | g.72123572A>T | CA400866895 | SOX9 | c.715A>T (p.Thr239Ser)
| dbSNP |
17 | g.72123572dup | CA2695226895 | SOX9 | c.715dup (p.Thr239AsnfsTer13)
| |
17 | g.72123572_72123575del | CA986080596 | SOX9 | c.715_718del (p.Thr239ProfsTer13)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123572_72123573insAAC | CA2639603118 | SOX9 | c.715_716insAAC (p.Thr239delinsLysPro)
| gnomAD v4 |
17 | g.72123573C>A | CA400866897 | SOX9 | c.716C>A (p.Thr239Asn)
| dbSNP |
17 | g.72123573C>G | CA400866898 | SOX9 | c.716C>G (p.Thr239Ser)
| dbSNP |
17 | g.72123573C>T | CA400866899 | SOX9 | c.716C>T (p.Thr239Ile)
| dbSNP |
17 | g.72123574dup | CA986080599 | SOX9 | c.717dup (p.Thr240HisfsTer12)
| gnomAD v3 gnomAD v4 |
17 | g.72123574C>A | CA501351980 | SOX9 | c.717C>A (p.Thr239=)
| dbSNP |
17 | g.72123574C= | CA2273926343 | SOX9 | c.717C= (p.Thr239=)
| |
17 | g.72123574C>G | CA501351982 | SOX9 | c.717C>G (p.Thr239=)
| dbSNP |
17 | g.72123574C>T | CA8739010 | SOX9 | c.717C>T (p.Thr239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123574_72123575insCCCCCCCCAA | CA2580612136 | SOX9 | c.717_718insCCCCCCCCAA (p.Thr240ProfsTer15)
| gnomAD v4 |
17 | g.72123575A= | CA2273926344 | SOX9 | c.718A= (p.Thr240=)
| |
17 | g.72123575A>C | CA400866900 | SOX9 | c.718A>C (p.Thr240Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123575A>G | CA400866901 | SOX9 | c.718A>G (p.Thr240Ala)
| gnomAD v4 |
17 | g.72123575A>T | CA400866902 | SOX9 | c.718A>T (p.Thr240Ser)
| |
17 | g.72123575_72123576delinsAC | CA2273926345 | SOX9 | c.718_719delinsAC (p.Thr240=)
| |
17 | g.72123575_72123576insAC | CA2639603119 | SOX9 | c.718_719insAC (p.Thr240AsnfsTer14)
| gnomAD v4 |
17 | g.72123576C>A | CA400866903 | SOX9 | c.719C>A (p.Thr240Asn)
| dbSNP |
17 | g.72123576C= | CA2273926346 | SOX9 | c.719C= (p.Thr240=)
| |
17 | g.72123576C>G | CA8739011 | SOX9 | c.719C>G (p.Thr240Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123576C>T | CA400866904 | SOX9 | c.719C>T (p.Thr240Ile)
| dbSNP |
17 | g.72123580dup | CA627589968 | SOX9 | c.723dup (p.Lys242GlnfsTer10)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123580del | CA915952173 | SOX9 | c.723del (p.Thr243ProfsTer10)
| ClinVar dbSNP |
17 | g.72123579_72123580del | CA2810344953 | SOX9 | c.722_723del (p.Pro241GlnfsTer10)
| |
17 | g.72123577C>A | CA501351983 | SOX9 | c.720C>A (p.Thr240=)
| dbSNP |
17 | g.72123577C>G | CA501351984 | SOX9 | c.720C>G (p.Thr240=)
| |
17 | g.72123577C>T | CA501351985 | SOX9 | c.720C>T (p.Thr240=)
| dbSNP gnomAD v4 |
17 | g.72123578C>A | CA400866907 | SOX9 | c.721C>A (p.Pro241Thr)
| dbSNP |
17 | g.72123578C= | CA2273926347 | SOX9 | c.721C= (p.Pro241=)
| |
17 | g.72123578C>G | CA400866906 | SOX9 | c.721C>G (p.Pro241Ala)
| |
17 | g.72123578C>T | CA400866905 | SOX9 | c.721C>T (p.Pro241Ser)
| dbSNP gnomAD v2 |
17 | g.72123579C>A | CA400866908 | SOX9 | c.722C>A (p.Pro241His)
| dbSNP |
17 | g.72123579C>G | CA400866909 | SOX9 | c.722C>G (p.Pro241Arg)
| dbSNP |
17 | g.72123579C>T | CA400866910 | SOX9 | c.722C>T (p.Pro241Leu)
| dbSNP |
17 | g.72123580_72123581insCAAACC | CA2639603120 | SOX9 | c.723_724insCAAACC (p.Pro241_Lys242insGlnThr)
| gnomAD v4 |
17 | g.72123580C>A | CA501351986 | SOX9 | c.723C>A (p.Pro241=)
| |
17 | g.72123580C>G | CA501351987 | SOX9 | c.723C>G (p.Pro241=)
| |
17 | g.72123580C>T | CA501351988 | SOX9 | c.723C>T (p.Pro241=)
| dbSNP COSMIC |
17 | g.72123580_72123581insCAAAACCAC | CA2639603121 | SOX9 | c.723_724insCAAAACCAC (p.Pro241_Lys242insGlnAsnHis)
| gnomAD v4 |
17 | g.72123581A= | CA2273926348 | SOX9 | c.724A= (p.Lys242=)
| |
17 | g.72123581A>C | CA400866911 | SOX9 | c.724A>C (p.Lys242Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123581A>G | CA400866912 | SOX9 | c.724A>G (p.Lys242Glu)
| |
17 | g.72123581A>T | CA400866913 | SOX9 | c.724A>T (p.Lys242Ter)
| |
17 | g.72123581_72123584del | CA2639603122 | SOX9 | c.724_727del (p.Lys242ProfsTer10)
| gnomAD v4 |
17 | g.72123582_72123584del | CA2810344954 | SOX9 | c.725_727del (p.Lys242del)
| |
17 | g.72123582A>C | CA400866916 | SOX9 | c.725A>C (p.Lys242Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123582A>G | CA400866914 | SOX9 | c.725A>G (p.Lys242Arg)
| |
17 | g.72123582A>T | CA400866915 | SOX9 | c.725A>T (p.Lys242Ile)
| |
17 | g.72123583A>C | CA400866917 | SOX9 | c.726A>C (p.Lys242Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123583A>G | CA501351989 | SOX9 | c.726A>G (p.Lys242=)
| |
17 | g.72123583A>T | CA400866918 | SOX9 | c.726A>T (p.Lys242Asn)
| dbSNP |
17 | g.72123583_72123584insCCC | CA2639603123 | SOX9 | c.726_727insCCC (p.Lys242_Thr243insPro)
| gnomAD v4 |
17 | g.72123583_72123584insCACACCCAACAC | CA2810344955 | SOX9 | c.726_727insCACACCCAACAC (p.Lys242_Thr243insHisThrGlnHis)
| |
17 | g.72123584A= | CA2273926349 | SOX9 | c.727A= (p.Thr243=)
| |
17 | g.72123584A>C | CA400866919 | SOX9 | c.727A>C (p.Thr243Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123584A>G | CA400866920 | SOX9 | c.727A>G (p.Thr243Ala)
| dbSNP |
17 | g.72123584A>T | CA400866921 | SOX9 | c.727A>T (p.Thr243Ser)
| dbSNP |
17 | g.72123585C>A | CA400866922 | SOX9 | c.728C>A (p.Thr243Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123585C>G | CA400866924 | SOX9 | c.728C>G (p.Thr243Ser)
| dbSNP |
17 | g.72123585C>T | CA400866923 | SOX9 | c.728C>T (p.Thr243Ile)
| dbSNP |
17 | g.72123585_72123586insACACC | CA2810344956 | SOX9 | c.728_729insACACC (p.Asp244HisfsTer11)
| |
17 | g.72123586C>A | CA501351990 | SOX9 | c.729C>A (p.Thr243=)
| dbSNP |
17 | g.72123586C= | CA2273926350 | SOX9 | c.729C= (p.Thr243=)
| |
17 | g.72123586C>G | CA501351991 | SOX9 | c.729C>G (p.Thr243=)
| dbSNP |
17 | g.72123586C>T | CA501351992 | SOX9 | c.729C>T (p.Thr243=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123587del | CA2597776577 | SOX9 | c.730del (p.Asp244ThrfsTer9)
| gnomAD v3 gnomAD v4 |
17 | g.72123587G>A | CA400866925 | SOX9 | c.730G>A (p.Asp244Asn)
| gnomAD v4 |
17 | g.72123587G>C | CA400866926 | SOX9 | c.730G>C (p.Asp244His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123587G= | CA2273926351 | SOX9 | c.730G= (p.Asp244=)
| |
17 | g.72123587G>T | CA400866927 | SOX9 | c.730G>T (p.Asp244Tyr)
| |
17 | g.72123588A>C | CA400866928 | SOX9 | c.731A>C (p.Asp244Ala)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123588A>G | CA400866929 | SOX9 | c.731A>G (p.Asp244Gly)
| dbSNP |
17 | g.72123588A>T | CA400866930 | SOX9 | c.731A>T (p.Asp244Val)
| dbSNP |
17 | g.72123589C>A | CA400866931 | SOX9 | c.732C>A (p.Asp244Glu)
| dbSNP |
17 | g.72123589C>G | CA400866932 | SOX9 | c.732C>G (p.Asp244Glu)
| dbSNP |
17 | g.72123589C>T | CA501351994 | SOX9 | c.732C>T (p.Asp244=)
| dbSNP gnomAD v4 |
17 | g.72123590G>A | CA8739012 | SOX9 | c.733G>A (p.Val245Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123590G>C | CA400866933 | SOX9 | c.733G>C (p.Val245Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123590G= | CA2273926352 | SOX9 | c.733G= (p.Val245=)
| |
17 | g.72123590G>T | CA400866934 | SOX9 | c.733G>T (p.Val245Leu)
| dbSNP gnomAD v2 |
17 | g.72123591T>A | CA400866935 | SOX9 | c.734T>A (p.Val245Glu)
| |
17 | g.72123591T>C | CA400866937 | SOX9 | c.734T>C (p.Val245Ala)
| dbSNP gnomAD v4 |
17 | g.72123591T>G | CA400866936 | SOX9 | c.734T>G (p.Val245Gly)
| dbSNP gnomAD v4 |
17 | g.72123592G>A | CA501351995 | SOX9 | c.735G>A (p.Val245=)
| dbSNP |
17 | g.72123592G>C | CA501351996 | SOX9 | c.735G>C (p.Val245=)
| dbSNP |
17 | g.72123592G= | CA2273926353 | SOX9 | c.735G= (p.Val245=)
| |
17 | g.72123592G>T | CA501351997 | SOX9 | c.735G>T (p.Val245=)
| |
17 | g.72123593C>A | CA400866938 | SOX9 | c.736C>A (p.Gln246Lys)
| |
17 | g.72123593C>G | CA400866940 | SOX9 | c.736C>G (p.Gln246Glu)
| dbSNP |
17 | g.72123593C>T | CA400866939 | SOX9 | c.736C>T (p.Gln246Ter)
| dbSNP |
17 | g.72123593dup | CA115582 | SOX9 | c.736dup (p.Gln246ProfsTer6)
| ClinVar dbSNP |
17 | g.72123594A= | CA2273926355 | SOX9 | c.737A= (p.Gln246=)
| |
17 | g.72123594A>C | CA8739013 | SOX9 | c.737A>C (p.Gln246Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123594A>G | CA400866941 | SOX9 | c.737A>G (p.Gln246Arg)
| dbSNP |
17 | g.72123594A>T | CA400866942 | SOX9 | c.737A>T (p.Gln246Leu)
| dbSNP gnomAD v4 |
17 | g.72123594_72123595delinsAG | CA2273926354 | SOX9 | c.737_738delinsAG (p.Gln246=)
| |
17 | g.72123595del | CA16620597 | SOX9 | c.738del (p.Gln246HisfsTer7)
| ClinVar dbSNP |
17 | g.72123595G>A | CA501351998 | SOX9 | c.738G>A (p.Gln246=)
| dbSNP |
17 | g.72123595G>C | CA400866943 | SOX9 | c.738G>C (p.Gln246His)
| dbSNP gnomAD v4 |
17 | g.72123595G>T | CA400866944 | SOX9 | c.738G>T (p.Gln246His)
| gnomAD v4 |
17 | g.72123596C>A | CA8739014 | SOX9 | c.739C>A (p.Pro247Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123596C= | CA2273926356 | SOX9 | c.739C= (p.Pro247=)
| |
17 | g.72123596C>G | CA400866946 | SOX9 | c.739C>G (p.Pro247Ala)
| dbSNP |
17 | g.72123596C>T | CA400866945 | SOX9 | c.739C>T (p.Pro247Ser)
| dbSNP |
17 | g.72123597C>A | CA400866947 | SOX9 | c.740C>A (p.Pro247Gln)
| |
17 | g.72123597C= | CA2273926357 | SOX9 | c.740C= (p.Pro247=)
| |
17 | g.72123597C>G | CA400866948 | SOX9 | c.740C>G (p.Pro247Arg)
| dbSNP |
17 | g.72123597C>T | CA400866949 | SOX9 | c.740C>T (p.Pro247Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123598_72123610del | CA2580060342 | SOX9 | c.741_753del (p.Gly248Ter)
| |
17 | g.72123598G>A | CA501351999 | SOX9 | c.741G>A (p.Pro247=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123598G>C | CA501352000 | SOX9 | c.741G>C (p.Pro247=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123598G= | CA2273926358 | SOX9 | c.741G= (p.Pro247=)
| |
17 | g.72123598G>T | CA501352001 | SOX9 | c.741G>T (p.Pro247=)
| dbSNP COSMIC |
17 | g.72123599G>A | CA400866950 | SOX9 | c.742G>A (p.Gly248Ser)
| dbSNP |
17 | g.72123599G>C | CA400866951 | SOX9 | c.742G>C (p.Gly248Arg)
| dbSNP |
17 | g.72123599G>T | CA400866952 | SOX9 | c.742G>T (p.Gly248Cys)
| dbSNP |
17 | g.72123600G>A | CA400866953 | SOX9 | c.743G>A (p.Gly248Asp)
| dbSNP gnomAD v4 |
17 | g.72123600G>C | CA400866955 | SOX9 | c.743G>C (p.Gly248Ala)
| dbSNP |
17 | g.72123600G>T | CA400866954 | SOX9 | c.743G>T (p.Gly248Val)
| COSMIC |
17 | g.72123600_72123601dup | CA645598914 | SOX9 | c.743_744dup (p.Lys249AlafsTer5)
| COSMIC |
17 | g.72123601C>A | CA501352002 | SOX9 | c.744C>A (p.Gly248=)
| dbSNP |
17 | g.72123601C= | CA2273926359 | SOX9 | c.744C= (p.Gly248=)
| |
17 | g.72123601C>G | CA501352003 | SOX9 | c.744C>G (p.Gly248=)
| dbSNP |
17 | g.72123601C>T | CA501352004 | SOX9 | c.744C>T (p.Gly248=)
| dbSNP |
17 | g.72123602A= | CA2273926360 | SOX9 | c.745A= (p.Lys249=)
| |
17 | g.72123602A>C | CA400866956 | SOX9 | c.745A>C (p.Lys249Gln)
| dbSNP gnomAD v4 |
17 | g.72123602A>G | CA400866957 | SOX9 | c.745A>G (p.Lys249Glu)
| dbSNP |
17 | g.72123602A>T | CA400866958 | SOX9 | c.745A>T (p.Lys249Ter)
| |
17 | g.72123603A>C | CA400866959 | SOX9 | c.746A>C (p.Lys249Thr)
| |
17 | g.72123603A>G | CA400866960 | SOX9 | c.746A>G (p.Lys249Arg)
| dbSNP |
17 | g.72123603A>T | CA400866961 | SOX9 | c.746A>T (p.Lys249Met)
| dbSNP |
17 | g.72123604G>A | CA501352006 | SOX9 | c.747G>A (p.Lys249=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123604G>C | CA400866962 | SOX9 | c.747G>C (p.Lys249Asn)
| gnomAD v4 |
17 | g.72123604G= | CA2273926361 | SOX9 | c.747G= (p.Lys249=)
| |
17 | g.72123604G>T | CA400866963 | SOX9 | c.747G>T (p.Lys249Asn)
| dbSNP |
17 | g.72123605G>A | CA400866964 | SOX9 | c.748G>A (p.Ala250Thr)
| dbSNP |
17 | g.72123605G>C | CA400866965 | SOX9 | c.748G>C (p.Ala250Pro)
| dbSNP |
17 | g.72123605G>T | CA400866966 | SOX9 | c.748G>T (p.Ala250Ser)
| |
17 | g.72123606C>A | CA400866967 | SOX9 | c.749C>A (p.Ala250Asp)
| dbSNP |
17 | g.72123606C>G | CA400866969 | SOX9 | c.749C>G (p.Ala250Gly)
| dbSNP |
17 | g.72123606C>T | CA400866968 | SOX9 | c.749C>T (p.Ala250Val)
| dbSNP |
17 | g.72123607T>A | CA501352009 | SOX9 | c.750T>A (p.Ala250=)
| dbSNP |
17 | g.72123607T>C | CA501352007 | SOX9 | c.750T>C (p.Ala250=)
| dbSNP |
17 | g.72123607T>G | CA501352008 | SOX9 | c.750T>G (p.Ala250=)
| dbSNP |
17 | g.72123608G>A | CA400866970 | SOX9 | c.751G>A (p.Asp251Asn)
| dbSNP |
17 | g.72123608G>C | CA400866971 | SOX9 | c.751G>C (p.Asp251His)
| dbSNP |
17 | g.72123608G= | CA2273926362 | SOX9 | c.751G= (p.Asp251=)
| |
17 | g.72123608G>T | CA8739015 | SOX9 | c.751G>T (p.Asp251Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123609A>C | CA400866972 | SOX9 | c.752A>C (p.Asp251Ala)
| dbSNP |
17 | g.72123609A>G | CA400866973 | SOX9 | c.752A>G (p.Asp251Gly)
| dbSNP |
17 | g.72123609A>T | CA400866974 | SOX9 | c.752A>T (p.Asp251Val)
| dbSNP |
17 | g.72123610C>A | CA400866975 | SOX9 | c.753C>A (p.Asp251Glu)
| |
17 | g.72123610C>G | CA400866976 | SOX9 | c.753C>G (p.Asp251Glu)
| dbSNP |
17 | g.72123610C>T | CA501352010 | SOX9 | c.753C>T (p.Asp251=)
| |
17 | g.72123611C>A | CA400866977 | SOX9 | c.754C>A (p.Leu252Met)
| dbSNP |
17 | g.72123611C>G | CA400866978 | SOX9 | c.754C>G (p.Leu252Val)
| |
17 | g.72123611C>T | CA501352011 | SOX9 | c.754C>T (p.Leu252=)
| |
17 | g.72123612T>A | CA400866979 | SOX9 | c.755T>A (p.Leu252Gln)
| dbSNP gnomAD v4 |
17 | g.72123612T>C | CA8739016 | SOX9 | c.755T>C (p.Leu252Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123612T>G | CA400866980 | SOX9 | c.755T>G (p.Leu252Arg)
| |
17 | g.72123612T= | CA2273926363 | SOX9 | c.755T= (p.Leu252=)
| |
17 | g.72123613G>A | CA501352012 | SOX9 | c.756G>A (p.Leu252=)
| dbSNP |
17 | g.72123613G>C | CA501352013 | SOX9 | c.756G>C (p.Leu252=)
| dbSNP gnomAD v4 |
17 | g.72123613G>T | CA501352014 | SOX9 | c.756G>T (p.Leu252=)
| |
17 | g.72123614A>C | CA400866981 | SOX9 | c.757A>C (p.Lys253Gln)
| |
17 | g.72123614A>G | CA400866983 | SOX9 | c.757A>G (p.Lys253Glu)
| dbSNP |
17 | g.72123614A>T | CA400866982 | SOX9 | c.757A>T (p.Lys253Ter)
| |
17 | g.72123615A>C | CA400866984 | SOX9 | c.758A>C (p.Lys253Thr)
| |
17 | g.72123615A>G | CA400866985 | SOX9 | c.758A>G (p.Lys253Arg)
| dbSNP |
17 | g.72123615A>T | CA400866986 | SOX9 | c.758A>T (p.Lys253Met)
| dbSNP |
17 | g.72123616G>A | CA501352017 | SOX9 | c.759G>A (p.Lys253=)
| dbSNP |
17 | g.72123616G>C | CA400866987 | SOX9 | c.759G>C (p.Lys253Asn)
| dbSNP |
17 | g.72123616G>T | CA400866988 | SOX9 | c.759G>T (p.Lys253Asn)
| |
17 | g.72123619_72123627del | CA2576374513 | SOX9 | c.762_770del (p.Glu255_Arg257del)
| |
17 | g.72123617C>A | CA501352018 | SOX9 | c.760C>A (p.Arg254=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123617C= | CA2273926364 | SOX9 | c.760C= (p.Arg254=)
| |
17 | g.72123617C>G | CA400866989 | SOX9 | c.760C>G (p.Arg254Gly)
| gnomAD v4 |
17 | g.72123617C>T | CA400866990 | SOX9 | c.760C>T (p.Arg254Ter)
| ClinVar dbSNP COSMIC |
17 | g.72123618G>A | CA400866991 | SOX9 | c.761G>A (p.Arg254Gln)
| gnomAD v4 COSMIC |
17 | g.72123618G>C | CA8739018 | SOX9 | c.761G>C (p.Arg254Pro)
| dbSNP ExAC gnomAD v4 |
17 | g.72123618G= | CA2273926365 | SOX9 | c.761G= (p.Arg254=)
| |
17 | g.72123618G>T | CA8739017 | SOX9 | c.761G>T (p.Arg254Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123621_72123622del | CA645598915 | SOX9 | c.764_765del (p.Glu255GlyfsTer?)
| COSMIC |
17 | g.72123619A>C | CA501352019 | SOX9 | c.762A>C (p.Arg254=)
| |
17 | g.72123619A>G | CA501352020 | SOX9 | c.762A>G (p.Arg254=)
| dbSNP |
17 | g.72123619A>T | CA501352021 | SOX9 | c.762A>T (p.Arg254=)
| dbSNP |
17 | g.72123620G>A | CA400866993 | SOX9 | c.763G>A (p.Glu255Lys)
| ClinVar dbSNP |
17 | g.72123620G>C | CA400866994 | SOX9 | c.763G>C (p.Glu255Gln)
| |
17 | g.72123620G>T | CA400866992 | SOX9 | c.763G>T (p.Glu255Ter)
| dbSNP |
17 | g.72123621A>C | CA400866997 | SOX9 | c.764A>C (p.Glu255Ala)
| |
17 | g.72123621A>G | CA400866995 | SOX9 | c.764A>G (p.Glu255Gly)
| dbSNP |
17 | g.72123621A>T | CA400866996 | SOX9 | c.764A>T (p.Glu255Val)
| dbSNP |