UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.72123501C= | CA2273926302 | SOX9 | c.686-42C= (n.686-42C=) | |
| 17 | g.72123501C>G | CA627589956 | SOX9 | c.686-42C>G (n.686-42C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123501C>T | CA8739000 | SOX9 | c.686-42C>T (n.686-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123502C>A | CA2733932133 | SOX9 | c.686-41C>A (n.686-41C>A) | dbSNP |
| 17 | g.72123502C= | CA2273926303 | SOX9 | c.686-41C= (n.686-41C=) | |
| 17 | g.72123502C>G | CA2733932132 | SOX9 | c.686-41C>G (n.686-41C>G) | dbSNP |
| 17 | g.72123502C>T | CA8739001 | SOX9 | c.686-41C>T (n.686-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123503C>A | CA2734002324 | SOX9 | c.686-40C>A (n.686-40C>A) | dbSNP |
| 17 | g.72123503C>G | CA2734002313 | SOX9 | c.686-40C>G (n.686-40C>G) | dbSNP |
| 17 | g.72123503C>T | CA2639603099 | SOX9 | c.686-40C>T (n.686-40C>T) | dbSNP gnomAD v4 |
| 17 | g.72123504T>A | CA2734002339 | SOX9 | c.686-39T>A (n.686-39T>A) | dbSNP |
| 17 | g.72123505T>A | CA2734002361 | SOX9 | c.686-38T>A (n.686-38T>A) | dbSNP |
| 17 | g.72123505T>C | CA2734002360 | SOX9 | c.686-38T>C (n.686-38T>C) | dbSNP |
| 17 | g.72123505T>G | CA2734002342 | SOX9 | c.686-38T>G (n.686-38T>G) | dbSNP |
| 17 | g.72123506G>A | CA2734002373 | SOX9 | c.686-37G>A (n.686-37G>A) | dbSNP |
| 17 | g.72123506G>C | CA2734002442 | SOX9 | c.686-37G>C (n.686-37G>C) | dbSNP |
| 17 | g.72123506G>T | CA2566398368 | SOX9 | c.686-37G>T (n.686-37G>T) | dbSNP |
| 17 | g.72123507T>A | CA2733932496 | SOX9 | c.686-36T>A (n.686-36T>A) | dbSNP |
| 17 | g.72123507T>C | CA8739002 | SOX9 | c.686-36T>C (n.686-36T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123507T>G | CA2733932497 | SOX9 | c.686-36T>G (n.686-36T>G) | dbSNP |
| 17 | g.72123507T= | CA2273926304 | SOX9 | c.686-36T= (n.686-36T=) | |
| 17 | g.72123508T>A | CA2273926305 | SOX9 | c.686-35T>A (n.686-35T>A) | dbSNP |
| 17 | g.72123508T>C | CA8739003 | SOX9 | c.686-35T>C (n.686-35T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123508T= | CA2273926306 | SOX9 | c.686-35T= (n.686-35T=) | |
| 17 | g.72123509G>A | CA627589957 | SOX9 | c.686-34G>A (n.686-34G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123509G>C | CA2733956195 | SOX9 | c.686-34G>C (n.686-34G>C) | dbSNP |
| 17 | g.72123509G= | CA2273926307 | SOX9 | c.686-34G= (n.686-34G=) | |
| 17 | g.72123509G>T | CA2733956196 | SOX9 | c.686-34G>T (n.686-34G>T) | dbSNP |
| 17 | g.72123510_72123511insACA | CA2639603100 | SOX9 | c.686-33_686-32insACA (n.686-33_686-32insACA) | gnomAD v4 |
| 17 | g.72123511T>A | CA2733970665 | SOX9 | c.686-32T>A (n.686-32T>A) | dbSNP |
| 17 | g.72123511T>C | CA2639603102 | SOX9 | c.686-32T>C (n.686-32T>C) | dbSNP gnomAD v4 |
| 17 | g.72123511T>G | CA2273926309 | SOX9 | c.686-32T>G (n.686-32T>G) | dbSNP |
| 17 | g.72123511T= | CA2273926308 | SOX9 | c.686-32T= (n.686-32T=) | |
| 17 | g.72123514dup | CA2639603101 | SOX9 | c.686-29dup (n.686-29dup) | gnomAD v4 |
| 17 | g.72123514del | CA2576374510 | SOX9 | c.686-29del (n.686-29del) | |
| 17 | g.72123512T>A | CA2734002445 | SOX9 | c.686-31T>A (n.686-31T>A) | dbSNP |
| 17 | g.72123513T>G | CA8739004 | SOX9 | c.686-30T>G (n.686-30T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123513T= | CA2273926310 | SOX9 | c.686-30T= (n.686-30T=) | |
| 17 | g.72123514T>C | CA2733939624 | SOX9 | c.686-29T>C (n.686-29T>C) | dbSNP |
| 17 | g.72123514T>G | CA293783195 | SOX9 | c.686-29T>G (n.686-29T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123514T= | CA2273926311 | SOX9 | c.686-29T= (n.686-29T=) | |
| 17 | g.72123516T>C | CA2639603103 | SOX9 | c.686-27T>C (n.686-27T>C) | gnomAD v4 |
| 17 | g.72123517C>A | CA2733962506 | SOX9 | c.686-26C>A (n.686-26C>A) | dbSNP |
| 17 | g.72123517C= | CA2273926312 | SOX9 | c.686-26C= (n.686-26C=) | |
| 17 | g.72123517C>G | CA2733962505 | SOX9 | c.686-26C>G (n.686-26C>G) | dbSNP |
| 17 | g.72123517C>T | CA627589958 | SOX9 | c.686-26C>T (n.686-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123518G>A | CA2733960382 | SOX9 | c.686-25G>A (n.686-25G>A) | dbSNP |
| 17 | g.72123518G>C | CA774800564 | SOX9 | c.686-25G>C (n.686-25G>C) | dbSNP gnomAD v4 |
| 17 | g.72123518G= | CA2273926313 | SOX9 | c.686-25G= (n.686-25G=) | |
| 17 | g.72123518G>T | CA2733960381 | SOX9 | c.686-25G>T (n.686-25G>T) | dbSNP |
| 17 | g.72123519T>A | CA2734002449 | SOX9 | c.686-24T>A (n.686-24T>A) | dbSNP |
| 17 | g.72123519T>C | CA2734002455 | SOX9 | c.686-24T>C (n.686-24T>C) | dbSNP |
| 17 | g.72123519T>G | CA2734002447 | SOX9 | c.686-24T>G (n.686-24T>G) | dbSNP |
| 17 | g.72123520G>A | CA2734002491 | SOX9 | c.686-23G>A (n.686-23G>A) | dbSNP |
| 17 | g.72123520G>C | CA2734002483 | SOX9 | c.686-23G>C (n.686-23G>C) | dbSNP |
| 17 | g.72123520G>T | CA2639603104 | SOX9 | c.686-23G>T (n.686-23G>T) | dbSNP gnomAD v4 |
| 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 |