OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 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 |
| 17 | g.72122779G>C | CA400866411 | SOX9 | c.492G>C (p.Gln164His) | |
| 17 | g.72122779G= | CA2273925899 | SOX9 | c.492G= (p.Gln164=) | |
| 17 | g.72122779G>T | CA400866410 | SOX9 | c.492G>T (p.Gln164His) | |
| 17 | g.72122780C>A | CA400866412 | SOX9 | c.493C>A (p.His165Asn) | |
| 17 | g.72122780C= | CA2273925900 | SOX9 | c.493C= (p.His165=) | |
| 17 | g.72122780C>G | CA400866413 | SOX9 | c.493C>G (p.His165Asp) | dbSNP |
| 17 | g.72122780C>T | CA115586 | SOX9 | c.493C>T (p.His165Tyr) | ClinVar dbSNP |
| 17 | g.72122781A= | CA2273925901 | SOX9 | c.494A= (p.His165=) | |
| 17 | g.72122781A>C | CA400866414 | SOX9 | c.494A>C (p.His165Pro) | dbSNP |
| 17 | g.72122781A>G | CA400866416 | SOX9 | c.494A>G (p.His165Arg) | ClinVar dbSNP COSMIC |
| 17 | g.72122781A>T | CA400866415 | SOX9 | c.494A>T (p.His165Leu) | dbSNP |
| 17 | g.72122782C>A | CA400866417 | SOX9 | c.495C>A (p.His165Gln) | dbSNP |
| 17 | g.72122782C>G | CA400866418 | SOX9 | c.495C>G (p.His165Gln) | dbSNP |
| 17 | g.72122782C>T | CA501432577 | SOX9 | c.495C>T (p.His165=) | dbSNP |
| 17 | g.72122783A>C | CA400866419 | SOX9 | c.496A>C (p.Lys166Gln) | |
| 17 | g.72122783A>G | CA400866420 | SOX9 | c.496A>G (p.Lys166Glu) | |
| 17 | g.72122783A>T | CA400866421 | SOX9 | c.496A>T (p.Lys166Ter) | |
| 17 | g.72122786_72122788del | CA645598903 | SOX9 | c.499_501del (p.Lys167del) | COSMIC |
| 17 | g.72122784A>C | CA400866422 | SOX9 | c.497A>C (p.Lys166Thr) | |
| 17 | g.72122784A>G | CA400866423 | SOX9 | c.497A>G (p.Lys166Arg) | dbSNP |
| 17 | g.72122784A>T | CA400866424 | SOX9 | c.497A>T (p.Lys166Met) | dbSNP |
| 17 | g.72122785G>A | CA501432578 | SOX9 | c.498G>A (p.Lys166=) | dbSNP |
| 17 | g.72122785G>C | CA400866425 | SOX9 | c.498G>C (p.Lys166Asn) | dbSNP |
| 17 | g.72122785G>T | CA400866426 | SOX9 | c.498G>T (p.Lys166Asn) | |
| 17 | g.72122786A>C | CA400866429 | SOX9 | c.499A>C (p.Lys167Gln) | |
| 17 | g.72122786A>G | CA400866428 | SOX9 | c.499A>G (p.Lys167Glu) | dbSNP |
| 17 | g.72122786A>T | CA400866427 | SOX9 | c.499A>T (p.Lys167Ter) | |
| 17 | g.72122787A>C | CA400866430 | SOX9 | c.500A>C (p.Lys167Thr) | |
| 17 | g.72122787A>G | CA400866431 | SOX9 | c.500A>G (p.Lys167Arg) | dbSNP gnomAD v4 |
| 17 | g.72122787A>T | CA400866432 | SOX9 | c.500A>T (p.Lys167Met) | dbSNP |
| 17 | g.72122788G>A | CA8738932 | SOX9 | c.501G>A (p.Lys167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72122788G>C | CA400866433 | SOX9 | c.501G>C (p.Lys167Asn) | |
| 17 | g.72122788G= | CA2273925902 | SOX9 | c.501G= (p.Lys167=) | |
| 17 | g.72122788G>T | CA400866434 | SOX9 | c.501G>T (p.Lys167Asn) | dbSNP |
| 17 | g.72122789G>A | CA400866435 | SOX9 | c.502G>A (p.Asp168Asn) | dbSNP |
| 17 | g.72122789G>C | CA400866436 | SOX9 | c.502G>C (p.Asp168His) | dbSNP |
| 17 | g.72122789G>T | CA400866437 | SOX9 | c.502G>T (p.Asp168Tyr) | ClinVar dbSNP |
| 17 | g.72122790A= | CA2273925903 | SOX9 | c.503A= (p.Asp168=) | |
| 17 | g.72122790A>C | CA400866438 | SOX9 | c.503A>C (p.Asp168Ala) | |
| 17 | g.72122790A>G | CA400866439 | SOX9 | c.503A>G (p.Asp168Gly) | ClinVar dbSNP |
| 17 | g.72122790A>T | CA400866440 | SOX9 | c.503A>T (p.Asp168Val) | |
| 17 | g.72122791C>A | CA400866441 | SOX9 | c.504C>A (p.Asp168Glu) | |
| 17 | g.72122791C= | CA2273925904 | SOX9 | c.504C= (p.Asp168=) | |
| 17 | g.72122791C>G | CA400866442 | SOX9 | c.504C>G (p.Asp168Glu) | dbSNP |
| 17 | g.72122791C>T | CA8738933 | SOX9 | c.504C>T (p.Asp168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122792C>A | CA400866443 | SOX9 | c.505C>A (p.His169Asn) | |
| 17 | g.72122792C>G | CA400866444 | SOX9 | c.505C>G (p.His169Asp) | |
| 17 | g.72122792C>T | CA400866445 | SOX9 | c.505C>T (p.His169Tyr) | gnomAD v4 |
| 17 | g.72122793A>C | CA400866446 | SOX9 | c.506A>C (p.His169Pro) | |
| 17 | g.72122793A>G | CA400866447 | SOX9 | c.506A>G (p.His169Arg) | |
| 17 | g.72122793A>T | CA400866448 | SOX9 | c.506A>T (p.His169Leu) | |
| 17 | g.72122794C>A | CA400866449 | SOX9 | c.507C>A (p.His169Gln) | dbSNP |
| 17 | g.72122794C= | CA2273925905 | SOX9 | c.507C= (p.His169=) | |
| 17 | g.72122794C>G | CA10581490 | SOX9 | c.507C>G (p.His169Gln) | ClinVar dbSNP |
| 17 | g.72122794C>T | CA341684 | SOX9 | c.507C>T (p.His169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122794_72122795delinsTA | CA2739268447 | SOX9 | c.507_508delinsTA (p.Pro170Thr) | ClinVar |