| 17 | g.72122667C>A | CA2639602835 | SOX9 | c.432-52C>A (n.432-52C>A)
| gnomAD v4 |
| 17 | g.72122668A>C | CA2734006492 | SOX9 | c.432-51A>C (n.432-51A>C)
| dbSNP |
| 17 | g.72122668A>G | CA2639602836 | SOX9 | c.432-51A>G (n.432-51A>G)
| dbSNP gnomAD v4 |
| 17 | g.72122668A>T | CA2639602837 | SOX9 | c.432-51A>T (n.432-51A>T)
| dbSNP gnomAD v4 |
| 17 | g.72122669C>T | CA2734006493 | SOX9 | c.432-50C>T (n.432-50C>T)
| dbSNP |
| 17 | g.72122671G>A | CA8738913 | SOX9 | c.432-48G>A (n.432-48G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122671G>C | CA2639602838 | SOX9 | c.432-48G>C (n.432-48G>C)
| gnomAD v4 |
| 17 | g.72122671G= | CA2273925838 | SOX9 | c.432-48G= (n.432-48G=)
| |
| 17 | g.72122671G>T | CA2639602839 | SOX9 | c.432-48G>T (n.432-48G>T)
| gnomAD v4 |
| 17 | g.72122673C>A | CA627316057 | SOX9 | c.432-46C>A (n.432-46C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122673C= | CA2273925839 | SOX9 | c.432-46C= (n.432-46C=)
| |
| 17 | g.72122673C>G | CA2733941830 | SOX9 | c.432-46C>G (n.432-46C>G)
| dbSNP |
| 17 | g.72122673C>T | CA293782048 | SOX9 | c.432-46C>T (n.432-46C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.72122674C>A | CA2576374469 | SOX9 | c.432-45C>A (n.432-45C>A)
| dbSNP gnomAD v4 |
| 17 | g.72122674C= | CA2273925840 | SOX9 | c.432-45C= (n.432-45C=)
| |
| 17 | g.72122674C>T | CA627316058 | SOX9 | c.432-45C>T (n.432-45C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72122675C>A | CA656864290 | SOX9 | c.432-44C>A (n.432-44C>A)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.72122675C= | CA2273925841 | SOX9 | c.432-44C= (n.432-44C=)
| |
| 17 | g.72122675C>G | CA2639602840 | SOX9 | c.432-44C>G (n.432-44C>G)
| gnomAD v4 |
| 17 | g.72122675C>T | CA2639602841 | SOX9 | c.432-44C>T (n.432-44C>T)
| gnomAD v4 |
| 17 | g.72122676C>A | CA2639602842 | SOX9 | c.432-43C>A (n.432-43C>A)
| dbSNP gnomAD v4 |
| 17 | g.72122676C= | CA2273925842 | SOX9 | c.432-43C= (n.432-43C=)
| |
| 17 | g.72122676C>T | CA627316059 | SOX9 | c.432-43C>T (n.432-43C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122676_72122677delinsCT | CA2273925843 | SOX9 | c.432-43_432-42delinsCT (n.432-43_432-42delinsCT)
| |
| 17 | g.72122679_72122680dup | CA774799623 | SOX9 | c.432-40_432-39dup (n.432-40_432-39dup)
| dbSNP gnomAD v4 |
| 17 | g.72122677del | CA627316060 | SOX9 | c.432-42del (n.432-42del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122677T>A | CA2733948978 | SOX9 | c.432-42T>A (n.432-42T>A)
| dbSNP |
| 17 | g.72122677T>C | CA627316061 | SOX9 | c.432-42T>C (n.432-42T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72122677T= | CA2273925844 | SOX9 | c.432-42T= (n.432-42T=)
| |
| 17 | g.72122678C>A | CA656864294 | SOX9 | c.432-41C>A (n.432-41C>A)
| dbSNP COSMIC |
| 17 | g.72122678C>G | CA2734006494 | SOX9 | c.432-41C>G (n.432-41C>G)
| dbSNP |
| 17 | g.72122678C>T | CA2734006495 | SOX9 | c.432-41C>T (n.432-41C>T)
| dbSNP |
| 17 | g.72122678dup | CA774799628 | SOX9 | c.432-41dup (n.432-41dup)
| dbSNP |
| 17 | g.72122679T>C | CA2639602843 | SOX9 | c.432-40T>C (n.432-40T>C)
| gnomAD v4 |
| 17 | g.72122679T>G | CA627316062 | SOX9 | c.432-40T>G (n.432-40T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72122679T= | CA2273925845 | SOX9 | c.432-40T= (n.432-40T=)
| |
| 17 | g.72122680C>G | CA2734006496 | SOX9 | c.432-39C>G (n.432-39C>G)
| dbSNP |
| 17 | g.72122680C>T | CA2639602845 | SOX9 | c.432-39C>T (n.432-39C>T)
| dbSNP gnomAD v4 |
| 17 | g.72122682del | CA2639602844 | SOX9 | c.432-37del (n.432-37del)
| gnomAD v4 |
| 17 | g.72122681C>A | CA2734006497 | SOX9 | c.432-38C>A (n.432-38C>A)
| dbSNP |
| 17 | g.72122681C>T | CA2639602846 | SOX9 | c.432-38C>T (n.432-38C>T)
| dbSNP gnomAD v4 |
| 17 | g.72122682C>A | CA2733932842 | SOX9 | c.432-37C>A (n.432-37C>A)
| dbSNP |
| 17 | g.72122682C= | CA2273925846 | SOX9 | c.432-37C= (n.432-37C=)
| |
| 17 | g.72122682C>T | CA8738914 | SOX9 | c.432-37C>T (n.432-37C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72122683T>A | CA2639602847 | SOX9 | c.432-36T>A (n.432-36T>A)
| dbSNP gnomAD v4 |
| 17 | g.72122683T>C | CA2576374470 | SOX9 | c.432-36T>C (n.432-36T>C)
| dbSNP |
| 17 | g.72122684C>T | CA2639602848 | SOX9 | c.432-35C>T (n.432-35C>T)
| gnomAD v4 |
| 17 | g.72122685T>A | CA2733959552 | SOX9 | c.432-34T>A (n.432-34T>A)
| dbSNP |
| 17 | g.72122685T>C | CA774799632 | SOX9 | c.432-34T>C (n.432-34T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72122685T= | CA2273925847 | SOX9 | c.432-34T= (n.432-34T=)
| |
| 17 | g.72122686T>C | CA2734006498 | SOX9 | c.432-33T>C (n.432-33T>C)
| dbSNP |
| 17 | g.72122686T>G | CA2576374471 | SOX9 | c.432-33T>G (n.432-33T>G)
| |
| 17 | g.72122687T>C | CA2576374472 | SOX9 | c.432-32T>C (n.432-32T>C)
| dbSNP gnomAD v4 |
| 17 | g.72122687T>G | CA2273925848 | SOX9 | c.432-32T>G (n.432-32T>G)
| dbSNP gnomAD v4 |
| 17 | g.72122687T= | CA2273925849 | SOX9 | c.432-32T= (n.432-32T=)
| |
| 17 | g.72122688T>C | CA2576374473 | SOX9 | c.432-31T>C (n.432-31T>C)
| dbSNP gnomAD v4 |
| 17 | g.72122689T>C | CA2273925851 | SOX9 | c.432-30T>C (n.432-30T>C)
| dbSNP |
| 17 | g.72122689T= | CA2273925850 | SOX9 | c.432-30T= (n.432-30T=)
| |
| 17 | g.72122690C>A | CA2639602849 | SOX9 | c.432-29C>A (n.432-29C>A)
| gnomAD v4 |
| 17 | g.72122690C>T | CA2734006499 | SOX9 | c.432-29C>T (n.432-29C>T)
| dbSNP |
| 17 | g.72122691T>C | CA2734006500 | SOX9 | c.432-28T>C (n.432-28T>C)
| dbSNP |
| 17 | g.72122692C= | CA2273925852 | SOX9 | c.432-27C= (n.432-27C=)
| |
| 17 | g.72122692C>G | CA8738915 | SOX9 | c.432-27C>G (n.432-27C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72122693T>A | CA2734006502 | SOX9 | c.432-26T>A (n.432-26T>A)
| dbSNP |
| 17 | g.72122693T>C | CA2734006501 | SOX9 | c.432-26T>C (n.432-26T>C)
| dbSNP |
| 17 | g.72122694G>A | CA627316063 | SOX9 | c.432-25G>A (n.432-25G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72122694G>C | CA2733950665 | SOX9 | c.432-25G>C (n.432-25G>C)
| dbSNP |
| 17 | g.72122694G= | CA2273925853 | SOX9 | c.432-25G= (n.432-25G=)
| |
| 17 | g.72122694G>T | CA2733950666 | SOX9 | c.432-25G>T (n.432-25G>T)
| dbSNP |
| 17 | g.72122696G>A | CA8738916 | SOX9 | c.432-23G>A (n.432-23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122696G= | CA2273925854 | SOX9 | c.432-23G= (n.432-23G=)
| |
| 17 | g.72122696_72122697delinsGC | CA2273925855 | SOX9 | c.432-23_432-22delinsGC (n.432-23_432-22delinsGC)
| |
| 17 | g.72122696_72122697dup | CA2639602850 | SOX9 | c.432-23_432-22dup (n.432-23_432-22dup)
| gnomAD v4 |
| 17 | g.72122697C= | CA2273925857 | SOX9 | c.432-22C= (n.432-22C=)
| |
| 17 | g.72122697C>T | CA8738917 | SOX9 | c.432-22C>T (n.432-22C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72122702_72122703insCCCCCCCCCCC | CA2639602851 | SOX9 | c.432-17_432-16insCCCCCCCCCCC (n.432-17_432-16insCCCCCCCCCCC)
| gnomAD v4 |
| 17 | g.72122702dup | CA627316064 | SOX9 | c.432-17dup (n.432-17dup)
| gnomAD v2 gnomAD v4 |
| 17 | g.72122701_72122702dup | CA2810344943 | SOX9 | c.432-18_432-17dup (n.432-18_432-17dup)
| |
| 17 | g.72122698_72122702dup | CA2576374474 | SOX9 | c.432-21_432-17dup (n.432-21_432-17dup)
| gnomAD v4 |
| 17 | g.72122702del | CA2273925856 | SOX9 | c.432-17del (n.432-17del)
| dbSNP gnomAD v4 |
| 17 | g.72122698C>A | CA2576374475 | SOX9 | c.432-21C>A (n.432-21C>A)
| gnomAD v4 |
| 17 | g.72122698C= | CA2273925858 | SOX9 | c.432-21C= (n.432-21C=)
| |
| 17 | g.72122698C>G | CA2576374476 | SOX9 | c.432-21C>G (n.432-21C>G)
| |
| 17 | g.72122699C>A | CA8738919 | SOX9 | c.432-20C>A (n.432-20C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72122699C= | CA2273925859 | SOX9 | c.432-20C= (n.432-20C=)
| |
| 17 | g.72122699C>G | CA2639602852 | SOX9 | c.432-20C>G (n.432-20C>G)
| gnomAD v4 |
| 17 | g.72122699C>T | CA2273925860 | SOX9 | c.432-20C>T (n.432-20C>T)
| dbSNP |
| 17 | g.72122709_72122713dup | CA8738918 | SOX9 | c.432-10_432-6dup (n.432-10_432-6dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122709_72122713del | CA2639602853 | SOX9 | c.432-10_432-6del (n.432-10_432-6del)
| gnomAD v4 |
| 17 | g.72122700C>A | CA2273925862 | SOX9 | c.432-19C>A (n.432-19C>A)
| dbSNP gnomAD v4 |
| 17 | g.72122700C= | CA2273925861 | SOX9 | c.432-19C= (n.432-19C=)
| |
| 17 | g.72122700C>G | CA293782095 | SOX9 | c.432-19C>G (n.432-19C>G)
| dbSNP |
| 17 | g.72122700C>T | CA656864295 | SOX9 | c.432-19C>T (n.432-19C>T)
| COSMIC |
| 17 | g.72122701C>A | CA2639602854 | SOX9 | c.432-18C>A (n.432-18C>A)
| dbSNP gnomAD v4 |
| 17 | g.72122701C= | CA2273925863 | SOX9 | c.432-18C= (n.432-18C=)
| |
| 17 | g.72122701C>G | CA8738920 | SOX9 | c.432-18C>G (n.432-18C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122701C>T | CA8738921 | SOX9 | c.432-18C>T (n.432-18C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122701_72122702insA | CA627316065 | SOX9 | c.432-18_432-17insA (n.432-18_432-17insA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122702C= | CA2273925864 | SOX9 | c.432-17C= (n.432-17C=)
| |
| 17 | g.72122702C>T | CA986062005 | SOX9 | c.432-17C>T (n.432-17C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72122703G>A | CA2511793741 | SOX9 | c.432-16G>A (n.432-16G>A)
| gnomAD v4 |
| 17 | g.72122703G>C | CA2576374477 | SOX9 | c.432-16G>C (n.432-16G>C)
| gnomAD v4 |
| 17 | g.72122704C>A | CA2639602856 | SOX9 | c.432-15C>A (n.432-15C>A)
| gnomAD v4 |
| 17 | g.72122704C>G | CA2734006504 | SOX9 | c.432-15C>G (n.432-15C>G)
| dbSNP |
| 17 | g.72122704C>T | CA2734006503 | SOX9 | c.432-15C>T (n.432-15C>T)
| dbSNP |
| 17 | g.72122707del | CA2639602855 | SOX9 | c.432-12del (n.432-12del)
| gnomAD v4 |
| 17 | g.72122705C>A | CA2734006505 | SOX9 | c.432-14C>A (n.432-14C>A)
| dbSNP |
| 17 | g.72122705C>T | CA2576374478 | SOX9 | c.432-14C>T (n.432-14C>T)
| dbSNP |
| 17 | g.72122706C>A | CA656864306 | SOX9 | c.432-13C>A (n.432-13C>A)
| dbSNP COSMIC |
| 17 | g.72122706C>T | CA2734006506 | SOX9 | c.432-13C>T (n.432-13C>T)
| dbSNP |
| 17 | g.72122708G>A | CA2639602857 | SOX9 | c.432-11G>A (n.432-11G>A)
| dbSNP gnomAD v4 |
| 17 | g.72122708G>C | CA627316066 | SOX9 | c.432-11G>C (n.432-11G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72122708G= | CA2273925865 | SOX9 | c.432-11G= (n.432-11G=)
| |
| 17 | g.72122708G>T | CA2733945472 | SOX9 | c.432-11G>T (n.432-11G>T)
| dbSNP |
| 17 | g.72122709C= | CA2273925866 | SOX9 | c.432-10C= (n.432-10C=)
| |
| 17 | g.72122709C>T | CA8738922 | SOX9 | c.432-10C>T (n.432-10C>T)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.72122710C>G | CA2734006507 | SOX9 | c.432-9C>G (n.432-9C>G)
| dbSNP |
| 17 | g.72122710C>T | CA2734006508 | SOX9 | c.432-9C>T (n.432-9C>T)
| dbSNP |
| 17 | g.72122711C>A | CA2733932495 | SOX9 | c.432-8C>A (n.432-8C>A)
| dbSNP |
| 17 | g.72122711C= | CA2273925867 | SOX9 | c.432-8C= (n.432-8C=)
| |
| 17 | g.72122711C>G | CA8738923 | SOX9 | c.432-8C>G (n.432-8C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72122711C>T | CA8738924 | SOX9 | c.432-8C>T (n.432-8C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122712C= | CA2273925869 | SOX9 | c.432-7C= (n.432-7C=)
| |
| 17 | g.72122712C>G | CA2639602858 | SOX9 | c.432-7C>G (n.432-7C>G)
| ClinVar gnomAD v4 |
| 17 | g.72122712C>T | CA2273925870 | SOX9 | c.432-7C>T (n.432-7C>T)
| dbSNP gnomAD v4 |
| 17 | g.72122712_72122713delinsCG | CA2273925868 | SOX9 | c.432-7_432-6delinsCG (n.432-7_432-6delinsCG)
| |
| 17 | g.72122713del | CA8738925 | SOX9 | c.432-6del (n.432-6del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122713G>A | CA774799663 | SOX9 | c.432-6G>A (n.432-6G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72122713G>C | CA2733954517 | SOX9 | c.432-6G>C (n.432-6G>C)
| dbSNP |
| 17 | g.72122713G= | CA2273925871 | SOX9 | c.432-6G= (n.432-6G=)
| |
| 17 | g.72122713G>T | CA627316067 | SOX9 | c.432-6G>T (n.432-6G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72122713_72122715del | CA2576374479 | SOX9 | c.432-6_432-4del (n.432-6_432-4del)
| |
| 17 | g.72122714A>C | CA2734006511 | SOX9 | c.432-5A>C (n.432-5A>C)
| dbSNP |
| 17 | g.72122714A>G | CA2734006510 | SOX9 | c.432-5A>G (n.432-5A>G)
| dbSNP |
| 17 | g.72122714A>T | CA2734006509 | SOX9 | c.432-5A>T (n.432-5A>T)
| dbSNP |
| 17 | g.72122715G>A | CA2734006512 | SOX9 | c.432-4G>A (n.432-4G>A)
| dbSNP |
| 17 | g.72122715G>C | CA2734006513 | SOX9 | c.432-4G>C (n.432-4G>C)
| dbSNP |
| 17 | g.72122715G>T | CA2734006514 | SOX9 | c.432-4G>T (n.432-4G>T)
| dbSNP |
| 17 | g.72122716C>A | CA293782126 | SOX9 | c.432-3C>A (n.432-3C>A)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.72122716C= | CA2273925872 | SOX9 | c.432-3C= (n.432-3C=)
| |
| 17 | g.72122716C>T | CA2733943650 | SOX9 | c.432-3C>T (n.432-3C>T)
| dbSNP |
| 17 | g.72122717A= | CA2273925873 | SOX9 | c.432-2A= (n.432-2A=)
| |
| 17 | g.72122717A>C | CA400866276 | SOX9 | c.432-2A>C (n.432-2A>C)
| ClinVar dbSNP |
| 17 | g.72122717A>G | CA400866274 | SOX9 | c.432-2A>G (n.432-2A>G)
| dbSNP |
| 17 | g.72122717A>T | CA400866275 | SOX9 | c.432-2A>T (n.432-2A>T)
| ClinVar dbSNP |
| 17 | g.72122718G>A | CA400866277 | SOX9 | c.432-1G>A (n.432-1G>A)
| |
| 17 | g.72122718G>C | CA400866278 | SOX9 | c.432-1G>C (n.432-1G>C)
| dbSNP |
| 17 | g.72122718G>T | CA400866279 | SOX9 | c.432-1G>T (n.432-1G>T)
| dbSNP |
| 17 | g.72122720_72122736del | CA2580095136 | SOX9 | c.433_449del
| ClinVar |
| 17 | g.72122719A>C | CA400866280 | SOX9 | c.432A>C (p.Arg144Ser)
| dbSNP |
| 17 | g.72122719A>G | CA501432537 | SOX9 | c.432A>G (p.Arg144=)
| dbSNP |
| 17 | g.72122719A>T | CA400866281 | SOX9 | c.432A>T (p.Arg144Ser)
| dbSNP |
| 17 | g.72122720C>A | CA400866282 | SOX9 | c.433C>A (p.Leu145Ile)
| |
| 17 | g.72122720C>G | CA400866284 | SOX9 | c.433C>G (p.Leu145Val)
| dbSNP |
| 17 | g.72122720C>T | CA400866283 | SOX9 | c.433C>T (p.Leu145Phe)
| dbSNP |
| 17 | g.72122721T>A | CA400866285 | SOX9 | c.434T>A (p.Leu145His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72122721T>C | CA400866286 | SOX9 | c.434T>C (p.Leu145Pro)
| dbSNP |
| 17 | g.72122721T>G | CA400866287 | SOX9 | c.434T>G (p.Leu145Arg)
| gnomAD v4 |
| 17 | g.72122721T= | CA2273925874 | SOX9 | c.434T= (p.Leu145=)
| |
| 17 | g.72122722T>A | CA501432538 | SOX9 | c.435T>A (p.Leu145=)
| |
| 17 | g.72122722T>C | CA501432539 | SOX9 | c.435T>C (p.Leu145=)
| |
| 17 | g.72122722T>G | CA501432540 | SOX9 | c.435T>G (p.Leu145=)
| dbSNP gnomAD v4 |
| 17 | g.72122723_72122724dup | CA1139665858 | SOX9 | c.436_437dup (p.Asn147Ter)
| ClinVar dbSNP |
| 17 | g.72122723C>A | CA400866288 | SOX9 | c.436C>A (p.Leu146Met)
| dbSNP COSMIC |
| 17 | g.72122723C>G | CA400866289 | SOX9 | c.436C>G (p.Leu146Val)
| ClinVar dbSNP |
| 17 | g.72122723C>T | CA501432541 | SOX9 | c.436C>T (p.Leu146=)
| dbSNP gnomAD v4 |
| 17 | g.72122724del | CA501432542 | SOX9 | c.437del (p.Leu146ArgfsTer?)
| COSMIC |
| 17 | g.72122724T>A | CA400866290 | SOX9 | c.437T>A (p.Leu146Gln)
| dbSNP |
| 17 | g.72122724T>C | CA400866291 | SOX9 | c.437T>C (p.Leu146Pro)
| dbSNP |
| 17 | g.72122724T>G | CA400866292 | SOX9 | c.437T>G (p.Leu146Arg)
| |
| 17 | g.72122725G>A | CA501432543 | SOX9 | c.438G>A (p.Leu146=)
| dbSNP gnomAD v2 |
| 17 | g.72122725G>C | CA501432544 | SOX9 | c.438G>C (p.Leu146=)
| dbSNP gnomAD v4 |
| 17 | g.72122725G= | CA2273925875 | SOX9 | c.438G= (p.Leu146=)
| |
| 17 | g.72122725G>T | CA501432545 | SOX9 | c.438G>T (p.Leu146=)
| dbSNP COSMIC |
| 17 | g.72122726A>C | CA400866293 | SOX9 | c.439A>C (p.Asn147His)
| dbSNP |
| 17 | g.72122726A>G | CA400866294 | SOX9 | c.439A>G (p.Asn147Asp)
| dbSNP |
| 17 | g.72122726A>T | CA400866295 | SOX9 | c.439A>T (p.Asn147Tyr)
| dbSNP |
| 17 | g.72122727A= | CA2273925876 | SOX9 | c.440A= (p.Asn147=)
| |
| 17 | g.72122727A>C | CA293782136 | SOX9 | c.440A>C (p.Asn147Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72122727A>G | CA400866297 | SOX9 | c.440A>G (p.Asn147Ser)
| dbSNP |
| 17 | g.72122727A>T | CA400866296 | SOX9 | c.440A>T (p.Asn147Ile)
| dbSNP |
| 17 | g.72122728del | CA913189249 | SOX9 | c.441del (p.Asn147LysfsTer?)
| |
| 17 | g.72122728C>A | CA400866298 | SOX9 | c.441C>A (p.Asn147Lys)
| |
| 17 | g.72122728C= | CA2273925877 | SOX9 | c.441C= (p.Asn147=)
| |
| 17 | g.72122728C>G | CA400866299 | SOX9 | c.441C>G (p.Asn147Lys)
| gnomAD v4 |
| 17 | g.72122728C>T | CA8738926 | SOX9 | c.441C>T (p.Asn147=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122729G>A | CA400866300 | SOX9 | c.442G>A (p.Glu148Lys)
| dbSNP |
| 17 | g.72122729G>C | CA400866301 | SOX9 | c.442G>C (p.Glu148Gln)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.72122729G= | CA2273925878 | SOX9 | c.442G= (p.Glu148=)
| |
| 17 | g.72122729G>T | CA10603321 | SOX9 | c.442G>T (p.Glu148Ter)
| ClinVar dbSNP |
| 17 | g.72122730A>C | CA400866302 | SOX9 | c.443A>C (p.Glu148Ala)
| |
| 17 | g.72122730A>G | CA400866303 | SOX9 | c.443A>G (p.Glu148Gly)
| dbSNP |
| 17 | g.72122730A>T | CA400866304 | SOX9 | c.443A>T (p.Glu148Val)
| dbSNP |
| 17 | g.72122732_72122740del | CA2499224892 | SOX9 | c.445_453del (p.Ser149_Lys151del)
| ClinVar dbSNP |
| 17 | g.72122731G>A | CA501432546 | SOX9 | c.444G>A (p.Glu148=)
| dbSNP |
| 17 | g.72122731G>C | CA400866305 | SOX9 | c.444G>C (p.Glu148Asp)
| |
| 17 | g.72122731G= | CA2273925879 | SOX9 | c.444G= (p.Glu148=)
| |
| 17 | g.72122731G>T | CA400866306 | SOX9 | c.444G>T (p.Glu148Asp)
| dbSNP |
| 17 | g.72122732A>C | CA400866307 | SOX9 | c.445A>C (p.Ser149Arg)
| dbSNP |
| 17 | g.72122732A>G | CA400866308 | SOX9 | c.445A>G (p.Ser149Gly)
| dbSNP |
| 17 | g.72122732A>T | CA400866309 | SOX9 | c.445A>T (p.Ser149Cys)
| dbSNP |
| 17 | g.72122733G>A | CA400866312 | SOX9 | c.446G>A (p.Ser149Asn)
| dbSNP |
| 17 | g.72122733G>C | CA400866311 | SOX9 | c.446G>C (p.Ser149Thr)
| dbSNP |
| 17 | g.72122733G>T | CA400866310 | SOX9 | c.446G>T (p.Ser149Ile)
| dbSNP COSMIC |
| 17 | g.72122734C>A | CA400866313 | SOX9 | c.447C>A (p.Ser149Arg)
| dbSNP |
| 17 | g.72122734C= | CA2273925880 | SOX9 | c.447C= (p.Ser149=)
| |
| 17 | g.72122734C>G | CA400866314 | SOX9 | c.447C>G (p.Ser149Arg)
| dbSNP |
| 17 | g.72122734C>T | CA8738927 | SOX9 | c.447C>T (p.Ser149=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122735G>A | CA400866315 | SOX9 | c.448G>A (p.Glu150Lys)
| dbSNP COSMIC |
| 17 | g.72122735G>C | CA400866316 | SOX9 | c.448G>C (p.Glu150Gln)
| dbSNP |
| 17 | g.72122735G>T | CA400866317 | SOX9 | c.448G>T (p.Glu150Ter)
| dbSNP COSMIC |
| 17 | g.72122736A>C | CA400866318 | SOX9 | c.449A>C (p.Glu150Ala)
| |
| 17 | g.72122736A>G | CA400866319 | SOX9 | c.449A>G (p.Glu150Gly)
| dbSNP |
| 17 | g.72122736A>T | CA400866320 | SOX9 | c.449A>T (p.Glu150Val)
| |
| 17 | g.72122737G>A | CA501432547 | SOX9 | c.450G>A (p.Glu150=)
| dbSNP gnomAD v4 |
| 17 | g.72122737G>C | CA400866321 | SOX9 | c.450G>C (p.Glu150Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122737G= | CA2273925881 | SOX9 | c.450G= (p.Glu150=)
| |
| 17 | g.72122737G>T | CA400866322 | SOX9 | c.450G>T (p.Glu150Asp)
| |
| 17 | g.72122738A>C | CA400866323 | SOX9 | c.451A>C (p.Lys151Gln)
| |
| 17 | g.72122738A>G | CA400866324 | SOX9 | c.451A>G (p.Lys151Glu)
| dbSNP |
| 17 | g.72122738A>T | CA400866325 | SOX9 | c.451A>T (p.Lys151Ter)
| |
| 17 | g.72122739A>C | CA400866327 | SOX9 | c.452A>C (p.Lys151Thr)
| dbSNP |
| 17 | g.72122739A>G | CA400866328 | SOX9 | c.452A>G (p.Lys151Arg)
| dbSNP |
| 17 | g.72122739A>T | CA400866326 | SOX9 | c.452A>T (p.Lys151Met)
| dbSNP |
| 17 | g.72122740G>A | CA501432548 | SOX9 | c.453G>A (p.Lys151=)
| |
| 17 | g.72122740G>C | CA400866329 | SOX9 | c.453G>C (p.Lys151Asn)
| |
| 17 | g.72122740G>T | CA400866330 | SOX9 | c.453G>T (p.Lys151Asn)
| dbSNP |
| 17 | g.72122741C>A | CA501432549 | SOX9 | c.454C>A (p.Arg152=)
| ClinVar dbSNP |
| 17 | g.72122741C= | CA2273925882 | SOX9 | c.454C= (p.Arg152=)
| |
| 17 | g.72122741C>G | CA400866331 | SOX9 | c.454C>G (p.Arg152Gly)
| ClinVar |
| 17 | g.72122741C>T | CA400866332 | SOX9 | c.454C>T (p.Arg152Trp)
| COSMIC |
| 17 | g.72122742G>A | CA400866333 | SOX9 | c.455G>A (p.Arg152Gln)
| dbSNP |
| 17 | g.72122742G>C | CA400866334 | SOX9 | c.455G>C (p.Arg152Pro)
| ClinVar dbSNP |
| 17 | g.72122742G>T | CA400866335 | SOX9 | c.455G>T (p.Arg152Leu)
| dbSNP |
| 17 | g.72122743G>A | CA501432550 | SOX9 | c.456G>A (p.Arg152=)
| dbSNP |
| 17 | g.72122743G>C | CA501432551 | SOX9 | c.456G>C (p.Arg152=)
| dbSNP |
| 17 | g.72122743G>T | CA501432552 | SOX9 | c.456G>T (p.Arg152=)
| |
| 17 | g.72122744C>A | CA400866336 | SOX9 | c.457C>A (p.Pro153Thr)
| dbSNP |
| 17 | g.72122744C>G | CA400866337 | SOX9 | c.457C>G (p.Pro153Ala)
| dbSNP |
| 17 | g.72122744C>T | CA400866338 | SOX9 | c.457C>T (p.Pro153Ser)
| dbSNP |
| 17 | g.72122745C>A | CA400866339 | SOX9 | c.458C>A (p.Pro153His)
| dbSNP |
| 17 | g.72122745C= | CA2273925883 | SOX9 | c.458C= (p.Pro153=)
| |
| 17 | g.72122745C>G | CA400866340 | SOX9 | c.458C>G (p.Pro153Arg)
| dbSNP |
| 17 | g.72122745C>T | CA293782161 | SOX9 | c.458C>T (p.Pro153Leu)
| dbSNP |
| 17 | g.72122746C>A | CA501432553 | SOX9 | c.459C>A (p.Pro153=)
| |
| 17 | g.72122746C= | CA2273925884 | SOX9 | c.459C= (p.Pro153=)
| |
| 17 | g.72122746C>G | CA501432554 | SOX9 | c.459C>G (p.Pro153=)
| |
| 17 | g.72122746C>T | CA293782164 | SOX9 | c.459C>T (p.Pro153=)
| dbSNP |
| 17 | g.72122747T>A | CA400866343 | SOX9 | c.460T>A (p.Phe154Ile)
| dbSNP |
| 17 | g.72122747T>C | CA400866341 | SOX9 | c.460T>C (p.Phe154Leu)
| dbSNP |
| 17 | g.72122747T>G | CA400866342 | SOX9 | c.460T>G (p.Phe154Val)
| dbSNP gnomAD v4 COSMIC |
| 17 | g.72122748T>A | CA400866344 | SOX9 | c.461T>A (p.Phe154Tyr)
| |
| 17 | g.72122748T>C | CA400866345 | SOX9 | c.461T>C (p.Phe154Ser)
| dbSNP |
| 17 | g.72122748T>G | CA400866346 | SOX9 | c.461T>G (p.Phe154Cys)
| dbSNP |
| 17 | g.72122749C>A | CA400866347 | SOX9 | c.462C>A (p.Phe154Leu)
| dbSNP |
| 17 | g.72122749C= | CA2273925885 | SOX9 | c.462C= (p.Phe154=)
| |
| 17 | g.72122749C>G | CA252319 | SOX9 | c.462C>G (p.Phe154Leu)
| ClinVar dbSNP |
| 17 | g.72122749C>T | CA501432555 | SOX9 | c.462C>T (p.Phe154=)
| dbSNP gnomAD v4 |
| 17 | g.72122750G>A | CA400866348 | SOX9 | c.463G>A (p.Val155Met)
| dbSNP |
| 17 | g.72122750G>C | CA400866349 | SOX9 | c.463G>C (p.Val155Leu)
| dbSNP |
| 17 | g.72122750G>T | CA400866350 | SOX9 | c.463G>T (p.Val155Leu)
| |
| 17 | g.72122751T>A | CA400866351 | SOX9 | c.464T>A (p.Val155Glu)
| |
| 17 | g.72122751T>C | CA400866352 | SOX9 | c.464T>C (p.Val155Ala)
| |
| 17 | g.72122751T>G | CA400866353 | SOX9 | c.464T>G (p.Val155Gly)
| |
| 17 | g.72122752G>A | CA501432556 | SOX9 | c.465G>A (p.Val155=)
| dbSNP |
| 17 | g.72122752G>C | CA501432557 | SOX9 | c.465G>C (p.Val155=)
| dbSNP |
| 17 | g.72122752G>T | CA501432558 | SOX9 | c.465G>T (p.Val155=)
| |
| 17 | g.72122753G>A | CA400866354 | SOX9 | c.466G>A (p.Glu156Lys)
| dbSNP |
| 17 | g.72122753G>C | CA400866356 | SOX9 | c.466G>C (p.Glu156Gln)
| dbSNP |
| 17 | g.72122753G>T | CA400866355 | SOX9 | c.466G>T (p.Glu156Ter)
| |
| 17 | g.72122754A>C | CA400866357 | SOX9 | c.467A>C (p.Glu156Ala)
| |
| 17 | g.72122754A>G | CA400866359 | SOX9 | c.467A>G (p.Glu156Gly)
| dbSNP |
| 17 | g.72122754A>T | CA400866358 | SOX9 | c.467A>T (p.Glu156Val)
| dbSNP |
| 17 | g.72122755G>A | CA8738928 | SOX9 | c.468G>A (p.Glu156=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122755G>C | CA400866360 | SOX9 | c.468G>C (p.Glu156Asp)
| |
| 17 | g.72122755G= | CA2273925886 | SOX9 | c.468G= (p.Glu156=)
| |
| 17 | g.72122755G>T | CA400866361 | SOX9 | c.468G>T (p.Glu156Asp)
| |
| 17 | g.72122756G>A | CA400866362 | SOX9 | c.469G>A (p.Glu157Lys)
| dbSNP |
| 17 | g.72122756G>C | CA400866363 | SOX9 | c.469G>C (p.Glu157Gln)
| dbSNP |
| 17 | g.72122756G>T | CA400866364 | SOX9 | c.469G>T (p.Glu157Ter)
| |
| 17 | g.72122757A>C | CA400866365 | SOX9 | c.470A>C (p.Glu157Ala)
| |
| 17 | g.72122757A>G | CA400866366 | SOX9 | c.470A>G (p.Glu157Gly)
| dbSNP |
| 17 | g.72122757A>T | CA400866367 | SOX9 | c.470A>T (p.Glu157Val)
| dbSNP |
| 17 | g.72122758G>A | CA501432559 | SOX9 | c.471G>A (p.Glu157=)
| |
| 17 | g.72122758G>C | CA400866368 | SOX9 | c.471G>C (p.Glu157Asp)
| |
| 17 | g.72122758G>T | CA400866369 | SOX9 | c.471G>T (p.Glu157Asp)
| dbSNP |
| 17 | g.72122758_72122769delinsGGCGGAGCGGCT | CA2273925887 | SOX9 | c.471_482delinsGGCGGAGCGGCT (p.Glu157=)
| |
| 17 | g.72122759G>A | CA115588 | SOX9 | c.472G>A (p.Ala158Thr)
| ClinVar dbSNP |
| 17 | g.72122759G>C | CA400866371 | SOX9 | c.472G>C (p.Ala158Pro)
| |
| 17 | g.72122759G= | CA2273925888 | SOX9 | c.472G= (p.Ala158=)
| |
| 17 | g.72122759G>T | CA400866370 | SOX9 | c.472G>T (p.Ala158Ser)
| dbSNP |
| 17 | g.72122762_72122772del | CA1139665859 | SOX9 | c.475_485del (p.Glu159ArgfsTer?)
| ClinVar dbSNP |
| 17 | g.72122760C>A | CA400866372 | SOX9 | c.473C>A (p.Ala158Glu)
| dbSNP |
| 17 | g.72122760C>G | CA400866373 | SOX9 | c.473C>G (p.Ala158Gly)
| dbSNP |
| 17 | g.72122760C>T | CA400866374 | SOX9 | c.473C>T (p.Ala158Val)
| ClinVar dbSNP COSMIC |
| 17 | g.72122761G>A | CA501432560 | SOX9 | c.474G>A (p.Ala158=)
| |
| 17 | g.72122761G>C | CA501432561 | SOX9 | c.474G>C (p.Ala158=)
| |
| 17 | g.72122761G= | CA2273925889 | SOX9 | c.474G= (p.Ala158=)
| |
| 17 | g.72122761G>T | CA501432562 | SOX9 | c.474G>T (p.Ala158=)
| dbSNP |
| 17 | g.72122762G>A | CA400866375 | SOX9 | c.475G>A (p.Glu159Lys)
| dbSNP |
| 17 | g.72122762G>C | CA400866376 | SOX9 | c.475G>C (p.Glu159Gln)
| dbSNP |
| 17 | g.72122762G>T | CA400866377 | SOX9 | c.475G>T (p.Glu159Ter)
| |
| 17 | g.72122763A= | CA2273925890 | SOX9 | c.476A= (p.Glu159=)
| |
| 17 | g.72122763A>C | CA400866378 | SOX9 | c.476A>C (p.Glu159Ala)
| dbSNP |
| 17 | g.72122763A>G | CA400866379 | SOX9 | c.476A>G (p.Glu159Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72122763A>T | CA400866380 | SOX9 | c.476A>T (p.Glu159Val)
| dbSNP |
| 17 | g.72122764G>A | CA8738929 | SOX9 | c.477G>A (p.Glu159=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122764G>C | CA400866381 | SOX9 | c.477G>C (p.Glu159Asp)
| |
| 17 | g.72122764G= | CA2273925891 | SOX9 | c.477G= (p.Glu159=)
| |
| 17 | g.72122764G>T | CA400866382 | SOX9 | c.477G>T (p.Glu159Asp)
| |
| 17 | g.72122765C>A | CA501432563 | SOX9 | c.478C>A (p.Arg160=)
| |
| 17 | g.72122765C>G | CA400866383 | SOX9 | c.478C>G (p.Arg160Gly)
| dbSNP |
| 17 | g.72122765C>T | CA400866384 | SOX9 | c.478C>T (p.Arg160Trp)
| 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 |
