17 | g.72123598_72123610del | CA2580060342 | SOX9 | c.741_753del (p.Gly248Ter)
| |
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 |
17 | g.72123622G>A | CA8739019 | SOX9 | c.765G>A (p.Glu255=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123622G>C | CA400866998 | SOX9 | c.765G>C (p.Glu255Asp)
| |
17 | g.72123622G= | CA2273926366 | SOX9 | c.765G= (p.Glu255=)
| |
17 | g.72123622G>T | CA400866999 | SOX9 | c.765G>T (p.Glu255Asp)
| dbSNP |
17 | g.72123625dup | CA501352022 | SOX9 | c.768dup (p.Arg257AlafsTer?)
| COSMIC |
17 | g.72123624_72123625dup | CA645598916 | SOX9 | c.767_768dup (p.Arg257GlyfsTer23)
| COSMIC COSMIC |
17 | g.72123623_72123627dup | CA645598917 | SOX9 | c.766_770dup (p.Pro258GlyfsTer23)
| COSMIC |
17 | g.72123623G>A | CA400867002 | SOX9 | c.766G>A (p.Gly256Arg)
| dbSNP |
17 | g.72123623G>C | CA400867001 | SOX9 | c.766G>C (p.Gly256Arg)
| dbSNP |
17 | g.72123623G>T | CA400867000 | SOX9 | c.766G>T (p.Gly256Trp)
| dbSNP |
17 | g.72123623_72123646dup | CA627589978 | SOX9 | c.766_789dup (p.Gly263_Arg264insGlyArgProLeuProGluGlyGly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123624G>A | CA400867003 | SOX9 | c.767G>A (p.Gly256Glu)
| dbSNP |
17 | g.72123624G>C | CA400867004 | SOX9 | c.767G>C (p.Gly256Ala)
| dbSNP |
17 | g.72123624G>T | CA400867005 | SOX9 | c.767G>T (p.Gly256Val)
| dbSNP |
17 | g.72123624_72123628dup | CA2695226896 | SOX9 | c.767_771dup (p.Pro258GlyfsTer23)
| |
17 | g.72123625G>A | CA501352025 | SOX9 | c.768G>A (p.Gly256=)
| dbSNP gnomAD v4 |
17 | g.72123625G>C | CA501352023 | SOX9 | c.768G>C (p.Gly256=)
| dbSNP gnomAD v4 |
17 | g.72123625G>T | CA501352024 | SOX9 | c.768G>T (p.Gly256=)
| |
17 | g.72123627_72123628dup | CA645598918 | SOX9 | c.770_771dup (p.Pro258AlafsTer22)
| COSMIC |
17 | g.72123626C>A | CA400867006 | SOX9 | c.769C>A (p.Arg257Ser)
| dbSNP |
17 | g.72123626C>G | CA400867007 | SOX9 | c.769C>G (p.Arg257Gly)
| dbSNP |
17 | g.72123626C>T | CA400867008 | SOX9 | c.769C>T (p.Arg257Cys)
| dbSNP gnomAD v4 |
17 | g.72123627G>A | CA400867009 | SOX9 | c.770G>A (p.Arg257His)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123627G>C | CA400867011 | SOX9 | c.770G>C (p.Arg257Pro)
| dbSNP gnomAD v2 |
17 | g.72123627G= | CA2273926367 | SOX9 | c.770G= (p.Arg257=)
| |
17 | g.72123627G>T | CA400867010 | SOX9 | c.770G>T (p.Arg257Leu)
| |
17 | g.72123628C>A | CA501352028 | SOX9 | c.771C>A (p.Arg257=)
| dbSNP |
17 | g.72123628C>G | CA501352027 | SOX9 | c.771C>G (p.Arg257=)
| dbSNP |
17 | g.72123628C>T | CA501352026 | SOX9 | c.771C>T (p.Arg257=)
| dbSNP gnomAD v4 |
17 | g.72123631del | CA645598920 | SOX9 | c.774del (p.Leu259CysfsTer20)
| COSMIC |
17 | g.72123629C>A | CA400867012 | SOX9 | c.772C>A (p.Pro258Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123629C= | CA2273926368 | SOX9 | c.772C= (p.Pro258=)
| |
17 | g.72123629C>G | CA400867013 | SOX9 | c.772C>G (p.Pro258Ala)
| |
17 | g.72123629C>T | CA400867014 | SOX9 | c.772C>T (p.Pro258Ser)
| ClinVar gnomAD v4 |
17 | g.72123630C>A | CA400867015 | SOX9 | c.773C>A (p.Pro258His)
| dbSNP |
17 | g.72123630C= | CA2273926369 | SOX9 | c.773C= (p.Pro258=)
| |
17 | g.72123630C>G | CA8739020 | SOX9 | c.773C>G (p.Pro258Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123630C>T | CA8739021 | SOX9 | c.773C>T (p.Pro258Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123631C>A | CA501352029 | SOX9 | c.774C>A (p.Pro258=)
| dbSNP |
17 | g.72123631C>G | CA501352031 | SOX9 | c.774C>G (p.Pro258=)
| dbSNP |
17 | g.72123631C>T | CA501352030 | SOX9 | c.774C>T (p.Pro258=)
| dbSNP gnomAD v4 |
17 | g.72123632T>A | CA400867016 | SOX9 | c.775T>A (p.Leu259Met)
| |
17 | g.72123632T>C | CA501352032 | SOX9 | c.775T>C (p.Leu259=)
| dbSNP |
17 | g.72123632T>G | CA400867017 | SOX9 | c.775T>G (p.Leu259Val)
| |
17 | g.72123632T= | CA2273926370 | SOX9 | c.775T= (p.Leu259=)
| |
17 | g.72123633T>A | CA400867018 | SOX9 | c.776T>A (p.Leu259Ter)
| |
17 | g.72123633T>C | CA400867019 | SOX9 | c.776T>C (p.Leu259Ser)
| |
17 | g.72123633T>G | CA400867020 | SOX9 | c.776T>G (p.Leu259Trp)
| |
17 | g.72123634G>A | CA501352034 | SOX9 | c.777G>A (p.Leu259=)
| |
17 | g.72123634G>C | CA400867022 | SOX9 | c.777G>C (p.Leu259Phe)
| |
17 | g.72123634G>T | CA400867021 | SOX9 | c.777G>T (p.Leu259Phe)
| |
17 | g.72123635C>A | CA400867023 | SOX9 | c.778C>A (p.Pro260Thr)
| |
17 | g.72123635C>G | CA400867024 | SOX9 | c.778C>G (p.Pro260Ala)
| |
17 | g.72123635C>T | CA400867025 | SOX9 | c.778C>T (p.Pro260Ser)
| |
17 | g.72123636C>A | CA400867026 | SOX9 | c.779C>A (p.Pro260Gln)
| dbSNP |
17 | g.72123636C= | CA2273926371 | SOX9 | c.779C= (p.Pro260=)
| |
17 | g.72123636C>G | CA400867027 | SOX9 | c.779C>G (p.Pro260Arg)
| dbSNP |
17 | g.72123636C>T | CA400867028 | SOX9 | c.779C>T (p.Pro260Leu)
| dbSNP |
17 | g.72123637A= | CA2273926372 | SOX9 | c.780A= (p.Pro260=)
| |
17 | g.72123637A>C | CA501352035 | SOX9 | c.780A>C (p.Pro260=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123637A>G | CA501352036 | SOX9 | c.780A>G (p.Pro260=)
| dbSNP |
17 | g.72123637A>T | CA501352037 | SOX9 | c.780A>T (p.Pro260=)
| dbSNP |
17 | g.72123638G>A | CA400867031 | SOX9 | c.781G>A (p.Glu261Lys)
| dbSNP |
17 | g.72123638G>C | CA400867030 | SOX9 | c.781G>C (p.Glu261Gln)
| dbSNP |
17 | g.72123638G= | CA2273926373 | SOX9 | c.781G= (p.Glu261=)
| |
17 | g.72123638G>T | CA400867029 | SOX9 | c.781G>T (p.Glu261Ter)
| ClinVar dbSNP |
17 | g.72123639A= | CA2273926374 | SOX9 | c.782A= (p.Glu261=)
| |
17 | g.72123639A>C | CA400867032 | SOX9 | c.782A>C (p.Glu261Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123639A>G | CA400867033 | SOX9 | c.782A>G (p.Glu261Gly)
| |
17 | g.72123639A>T | CA400867034 | SOX9 | c.782A>T (p.Glu261Val)
| |
17 | g.72123639_72123640delinsAG | CA2273926375 | SOX9 | c.782_783delinsAG (p.Glu261=)
| |
17 | g.72123640G>A | CA8739022 | SOX9 | c.783G>A (p.Glu261=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123640G>C | CA8739023 | SOX9 | c.783G>C (p.Glu261Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123640G= | CA2273926376 | SOX9 | c.783G= (p.Glu261=)
| |
17 | g.72123640G>T | CA293783338 | SOX9 | c.783G>T (p.Glu261Asp)
| dbSNP |
17 | g.72123645dup | CA501352038 | SOX9 | c.788dup (p.Arg264GlnfsTer?)
| ClinVar dbSNP COSMIC |
17 | g.72123645del | CA627589979 | SOX9 | c.788del (p.Gly263AlafsTer16)
| ClinVar dbSNP gnomAD v2 COSMIC |
17 | g.72123641G>A | CA400867035 | SOX9 | c.784G>A (p.Gly262Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123641G>C | CA8739024 | SOX9 | c.784G>C (p.Gly262Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123641G= | CA2273926377 | SOX9 | c.784G= (p.Gly262=)
| |
17 | g.72123641G>T | CA400867036 | SOX9 | c.784G>T (p.Gly262Trp)
| dbSNP |
17 | g.72123642G>A | CA400867037 | SOX9 | c.785G>A (p.Gly262Glu)
| dbSNP |
17 | g.72123642G>C | CA400867038 | SOX9 | c.785G>C (p.Gly262Ala)
| |
17 | g.72123642G= | CA2273926378 | SOX9 | c.785G= (p.Gly262=)
| |
17 | g.72123642G>T | CA400867039 | SOX9 | c.785G>T (p.Gly262Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123643G>A | CA501352039 | SOX9 | c.786G>A (p.Gly262=)
| dbSNP |
17 | g.72123643G>C | CA501352040 | SOX9 | c.786G>C (p.Gly262=)
| |
17 | g.72123643G= | CA2273926379 | SOX9 | c.786G= (p.Gly262=)
| |
17 | g.72123643G>T | CA501352041 | SOX9 | c.786G>T (p.Gly262=)
| dbSNP |
17 | g.72123644G>A | CA8739025 | SOX9 | c.787G>A (p.Gly263Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123644G>C | CA400867040 | SOX9 | c.787G>C (p.Gly263Arg)
| |
17 | g.72123644G= | CA2273926380 | SOX9 | c.787G= (p.Gly263=)
| |
17 | g.72123644G>T | CA400867041 | SOX9 | c.787G>T (p.Gly263Cys)
| dbSNP gnomAD v4 |
17 | g.72123644_72123664del | CA2695226897 | SOX9 | c.787_807del (p.Gly263_Asp269del)
| |
17 | g.72123645G>A | CA400867042 | SOX9 | c.788G>A (p.Gly263Asp)
| dbSNP gnomAD v4 |
17 | g.72123645G>C | CA400867043 | SOX9 | c.788G>C (p.Gly263Ala)
| dbSNP |
17 | g.72123645G= | CA2273926381 | SOX9 | c.788G= (p.Gly263=)
| |
17 | g.72123645G>T | CA8739026 | SOX9 | c.788G>T (p.Gly263Val)
| ClinVar dbSNP ExAC gnomAD v4 |
17 | g.72123646del | CA2695226898 | SOX9 | c.789del (p.Arg264AspfsTer15)
| |
17 | g.72123646C>A | CA501352044 | SOX9 | c.789C>A (p.Gly263=)
| ClinVar |
17 | g.72123646C>G | CA501352042 | SOX9 | c.789C>G (p.Gly263=)
| dbSNP |
17 | g.72123646C>T | CA501352043 | SOX9 | c.789C>T (p.Gly263=)
| dbSNP |
17 | g.72123647A>C | CA501352046 | SOX9 | c.790A>C (p.Arg264=)
| dbSNP |
17 | g.72123647A>G | CA400867044 | SOX9 | c.790A>G (p.Arg264Gly)
| dbSNP gnomAD v4 |
17 | g.72123647A>T | CA400867045 | SOX9 | c.790A>T (p.Arg264Ter)
| ClinVar |
17 | g.72123648G>A | CA8739027 | SOX9 | c.791G>A (p.Arg264Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123648G>C | CA400867047 | SOX9 | c.791G>C (p.Arg264Thr)
| dbSNP COSMIC |
17 | g.72123648G= | CA2273926382 | SOX9 | c.791G= (p.Arg264=)
| |
17 | g.72123648G>T | CA400867046 | SOX9 | c.791G>T (p.Arg264Ile)
| |
17 | g.72123649A>C | CA400867048 | SOX9 | c.792A>C (p.Arg264Ser)
| dbSNP |
17 | g.72123649A>G | CA501352047 | SOX9 | c.792A>G (p.Arg264=)
| dbSNP |
17 | g.72123649A>T | CA400867049 | SOX9 | c.792A>T (p.Arg264Ser)
| dbSNP |
17 | g.72123650C>A | CA400867050 | SOX9 | c.793C>A (p.Gln265Lys)
| dbSNP |
17 | g.72123650C= | CA2273926383 | SOX9 | c.793C= (p.Gln265=)
| |
17 | g.72123650C>G | CA293783351 | SOX9 | c.793C>G (p.Gln265Glu)
| dbSNP |
17 | g.72123650C>T | CA400867051 | SOX9 | c.793C>T (p.Gln265Ter)
| dbSNP COSMIC |
17 | g.72123651A>C | CA400867052 | SOX9 | c.794A>C (p.Gln265Pro)
| |
17 | g.72123651A>G | CA400867054 | SOX9 | c.794A>G (p.Gln265Arg)
| dbSNP |
17 | g.72123651A>T | CA400867053 | SOX9 | c.794A>T (p.Gln265Leu)
| dbSNP |
17 | g.72123652G>A | CA501352048 | SOX9 | c.795G>A (p.Gln265=)
| dbSNP |
17 | g.72123652G>C | CA400867055 | SOX9 | c.795G>C (p.Gln265His)
| |
17 | g.72123652G= | CA2273926384 | SOX9 | c.795G= (p.Gln265=)
| |
17 | g.72123652G>T | CA400867056 | SOX9 | c.795G>T (p.Gln265His)
| |
17 | g.72123653C>A | CA400867057 | SOX9 | c.796C>A (p.Pro266Thr)
| dbSNP |
17 | g.72123653C>G | CA400867058 | SOX9 | c.796C>G (p.Pro266Ala)
| dbSNP |
17 | g.72123653C>T | CA400867059 | SOX9 | c.796C>T (p.Pro266Ser)
| dbSNP |
17 | g.72123657dup | CA1139665863 | SOX9 | c.800dup (p.Ile268TyrfsTer28)
| |
17 | g.72123657del | CA645598922 | SOX9 | c.800del (p.Pro267LeufsTer12)
| COSMIC |
17 | g.72123654C>A | CA400867060 | SOX9 | c.797C>A (p.Pro266His)
| dbSNP |
17 | g.72123654C= | CA2273926385 | SOX9 | c.797C= (p.Pro266=)
| |
17 | g.72123654C>G | CA400867061 | SOX9 | c.797C>G (p.Pro266Arg)
| |
17 | g.72123654C>T | CA400867062 | SOX9 | c.797C>T (p.Pro266Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123655C>A | CA501352049 | SOX9 | c.798C>A (p.Pro266=)
| dbSNP |
17 | g.72123655C= | CA2273926386 | SOX9 | c.798C= (p.Pro266=)
| |
17 | g.72123655C>G | CA501352050 | SOX9 | c.798C>G (p.Pro266=)
| dbSNP gnomAD v4 |
17 | g.72123655C>T | CA8739028 | SOX9 | c.798C>T (p.Pro266=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123656C>A | CA400867063 | SOX9 | c.799C>A (p.Pro267Thr)
| |
17 | g.72123656C>G | CA400867064 | SOX9 | c.799C>G (p.Pro267Ala)
| |
17 | g.72123656C>T | CA400867065 | SOX9 | c.799C>T (p.Pro267Ser)
| dbSNP |
17 | g.72123657C>A | CA400867066 | SOX9 | c.800C>A (p.Pro267His)
| dbSNP |
17 | g.72123657C>G | CA400867068 | SOX9 | c.800C>G (p.Pro267Arg)
| |
17 | g.72123657C>T | CA400867067 | SOX9 | c.800C>T (p.Pro267Leu)
| dbSNP |
17 | g.72123658del | CA2597776583 | SOX9 | c.801del (p.Ile268SerfsTer11)
| gnomAD v3 gnomAD v4 |
17 | g.72123658T>A | CA501352051 | SOX9 | c.801T>A (p.Pro267=)
| |
17 | g.72123658T>C | CA501352052 | SOX9 | c.801T>C (p.Pro267=)
| dbSNP |
17 | g.72123658T>G | CA501352053 | SOX9 | c.801T>G (p.Pro267=)
| |
17 | g.72123659A= | CA2273926387 | SOX9 | c.802A= (p.Ile268=)
| |
17 | g.72123659A>C | CA400867069 | SOX9 | c.802A>C (p.Ile268Leu)
| dbSNP |
17 | g.72123659A>G | CA8739029 | SOX9 | c.802A>G (p.Ile268Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123659A>T | CA400867070 | SOX9 | c.802A>T (p.Ile268Phe)
| dbSNP |
17 | g.72123660T>A | CA400867071 | SOX9 | c.803T>A (p.Ile268Asn)
| dbSNP |
17 | g.72123660T>C | CA400867072 | SOX9 | c.803T>C (p.Ile268Thr)
| dbSNP |
17 | g.72123660T>G | CA400867073 | SOX9 | c.803T>G (p.Ile268Ser)
| dbSNP |
17 | g.72123661C>A | CA501352054 | SOX9 | c.804C>A (p.Ile268=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.72123661C= | CA2273926388 | SOX9 | c.804C= (p.Ile268=)
| |
17 | g.72123661C>G | CA400867074 | SOX9 | c.804C>G (p.Ile268Met)
| dbSNP |
17 | g.72123661C>T | CA501352055 | SOX9 | c.804C>T (p.Ile268=)
| dbSNP gnomAD v4 |
17 | g.72123662G>A | CA400867075 | SOX9 | c.805G>A (p.Asp269Asn)
| dbSNP |
17 | g.72123662G>C | CA400867076 | SOX9 | c.805G>C (p.Asp269His)
| dbSNP |
17 | g.72123662G>T | CA400867077 | SOX9 | c.805G>T (p.Asp269Tyr)
| dbSNP COSMIC |
17 | g.72123663A>C | CA400867080 | SOX9 | c.806A>C (p.Asp269Ala)
| dbSNP |
17 | g.72123663A>G | CA400867079 | SOX9 | c.806A>G (p.Asp269Gly)
| dbSNP |
17 | g.72123663A>T | CA400867078 | SOX9 | c.806A>T (p.Asp269Val)
| dbSNP |
17 | g.72123664C>A | CA8739030 | SOX9 | c.807C>A (p.Asp269Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.72123664C= | CA2273926389 | SOX9 | c.807C= (p.Asp269=)
| |
17 | g.72123664C>G | CA400867081 | SOX9 | c.807C>G (p.Asp269Glu)
| |
17 | g.72123664C>T | CA8739031 | SOX9 | c.807C>T (p.Asp269=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123665T>A | CA400867082 | SOX9 | c.808T>A (p.Phe270Ile)
| |
17 | g.72123665T>C | CA400867083 | SOX9 | c.808T>C (p.Phe270Leu)
| |
17 | g.72123665T>G | CA400867084 | SOX9 | c.808T>G (p.Phe270Val)
| |
17 | g.72123666T>A | CA400867085 | SOX9 | c.809T>A (p.Phe270Tyr)
| |
17 | g.72123666T>C | CA400867086 | SOX9 | c.809T>C (p.Phe270Ser)
| |
17 | g.72123666T>G | CA400867087 | SOX9 | c.809T>G (p.Phe270Cys)
| |
17 | g.72123667C>A | CA400867088 | SOX9 | c.810C>A (p.Phe270Leu)
| COSMIC |
17 | g.72123667C>G | CA400867089 | SOX9 | c.810C>G (p.Phe270Leu)
| |
17 | g.72123667C>T | CA501352057 | SOX9 | c.810C>T (p.Phe270=)
| gnomAD v4 |
17 | g.72123668dup | CA501352056 | SOX9 | c.811dup (p.Arg271ProfsTer25)
| COSMIC |
17 | g.72123668C>A | CA400867090 | SOX9 | c.811C>A (p.Arg271Ser)
| |
17 | g.72123668C= | CA2273926390 | SOX9 | c.811C= (p.Arg271=)
| |
17 | g.72123668C>G | CA400867091 | SOX9 | c.811C>G (p.Arg271Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123668C>T | CA8739032 | SOX9 | c.811C>T (p.Arg271Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123669G>A | CA400867094 | SOX9 | c.812G>A (p.Arg271His)
| dbSNP gnomAD v4 |
17 | g.72123669G>C | CA400867092 | SOX9 | c.812G>C (p.Arg271Pro)
| dbSNP |
17 | g.72123669G= | CA2273926391 | SOX9 | c.812G= (p.Arg271=)
| |
17 | g.72123669G>T | CA400867093 | SOX9 | c.812G>T (p.Arg271Leu)
| |
17 | g.72123670C>A | CA501352058 | SOX9 | c.813C>A (p.Arg271=)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123670C= | CA2273926392 | SOX9 | c.813C= (p.Arg271=)
| |
17 | g.72123670C>G | CA501352059 | SOX9 | c.813C>G (p.Arg271=)
| dbSNP |
17 | g.72123670C>T | CA501352060 | SOX9 | c.813C>T (p.Arg271=)
| dbSNP gnomAD v4 |
17 | g.72123671G>A | CA400867095 | SOX9 | c.814G>A (p.Asp272Asn)
| dbSNP gnomAD v4 |
17 | g.72123671G>C | CA400867096 | SOX9 | c.814G>C (p.Asp272His)
| dbSNP |
17 | g.72123671G>T | CA400867097 | SOX9 | c.814G>T (p.Asp272Tyr)
| COSMIC |
17 | g.72123673_72123674insTCCGTGAC | CA2580095140 | SOX9 | c.816_817insTCCGTGAC (p.Val273SerfsTer9)
| ClinVar |
17 | g.72123672A>C | CA400867098 | SOX9 | c.815A>C (p.Asp272Ala)
| dbSNP |
17 | g.72123672A>G | CA400867099 | SOX9 | c.815A>G (p.Asp272Gly)
| dbSNP |
17 | g.72123672A>T | CA400867100 | SOX9 | c.815A>T (p.Asp272Val)
| dbSNP |
17 | g.72123673C>A | CA400867101 | SOX9 | c.816C>A (p.Asp272Glu)
| dbSNP |
17 | g.72123673C= | CA2273926393 | SOX9 | c.816C= (p.Asp272=)
| |
17 | g.72123673C>G | CA400867102 | SOX9 | c.816C>G (p.Asp272Glu)
| dbSNP |
17 | g.72123673C>T | CA8739033 | SOX9 | c.816C>T (p.Asp272=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123674G>A | CA400867103 | SOX9 | c.817G>A (p.Val273Met)
| dbSNP gnomAD v4 |
17 | g.72123674G>C | CA293783383 | SOX9 | c.817G>C (p.Val273Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123674G= | CA2273926394 | SOX9 | c.817G= (p.Val273=)
| |
17 | g.72123674G>T | CA400867104 | SOX9 | c.817G>T (p.Val273Leu)
| |
17 | g.72123675_72123676dup | CA645598923 | SOX9 | c.818_819dup (p.Asp274TrpfsTer6)
| COSMIC |
17 | g.72123675T>A | CA400867106 | SOX9 | c.818T>A (p.Val273Glu)
| |
17 | g.72123675T>C | CA400867107 | SOX9 | c.818T>C (p.Val273Ala)
| dbSNP |
17 | g.72123675T>G | CA400867105 | SOX9 | c.818T>G (p.Val273Gly)
| dbSNP |
17 | g.72123675T= | CA2273926395 | SOX9 | c.818T= (p.Val273=)
| |
17 | g.72123676G>A | CA501352061 | SOX9 | c.819G>A (p.Val273=)
| dbSNP gnomAD v4 |
17 | g.72123676G>C | CA501352062 | SOX9 | c.819G>C (p.Val273=)
| dbSNP |
17 | g.72123676G= | CA2273926396 | SOX9 | c.819G= (p.Val273=)
| |
17 | g.72123676G>T | CA501352063 | SOX9 | c.819G>T (p.Val273=)
| |
17 | g.72123677_72123686del | CA2695226899 | SOX9 | c.820_829del (p.Asp274SerfsTer2)
| |
17 | g.72123677G>A | CA400867108 | SOX9 | c.820G>A (p.Asp274Asn)
| dbSNP gnomAD v4 |
17 | g.72123677G>C | CA400867110 | SOX9 | c.820G>C (p.Asp274His)
| dbSNP |
17 | g.72123677G>T | CA400867109 | SOX9 | c.820G>T (p.Asp274Tyr)
| |
17 | g.72123678A>C | CA400867111 | SOX9 | c.821A>C (p.Asp274Ala)
| dbSNP |
17 | g.72123678A>G | CA400867112 | SOX9 | c.821A>G (p.Asp274Gly)
| dbSNP |
17 | g.72123678A>T | CA400867113 | SOX9 | c.821A>T (p.Asp274Val)
| dbSNP |
17 | g.72123679C>A | CA400867114 | SOX9 | c.822C>A (p.Asp274Glu)
| dbSNP |
17 | g.72123679C= | CA2273926397 | SOX9 | c.822C= (p.Asp274=)
| |
17 | g.72123679C>G | CA400867115 | SOX9 | c.822C>G (p.Asp274Glu)
| dbSNP |
17 | g.72123679C>T | CA501352064 | SOX9 | c.822C>T (p.Asp274=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123680A>C | CA400867116 | SOX9 | c.823A>C (p.Ile275Leu)
| dbSNP |
17 | g.72123680A>G | CA400867117 | SOX9 | c.823A>G (p.Ile275Val)
| |
17 | g.72123680A>T | CA400867118 | SOX9 | c.823A>T (p.Ile275Phe)
| dbSNP gnomAD v4 |
17 | g.72123681T>A | CA400867119 | SOX9 | c.824T>A (p.Ile275Asn)
| dbSNP |
17 | g.72123681T>C | CA400867120 | SOX9 | c.824T>C (p.Ile275Thr)
| |
17 | g.72123681T>G | CA400867121 | SOX9 | c.824T>G (p.Ile275Ser)
| dbSNP |
17 | g.72123681T= | CA2273926398 | SOX9 | c.824T= (p.Ile275=)
| |
17 | g.72123682C>A | CA293783393 | SOX9 | c.825C>A (p.Ile275=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123682C= | CA2273926399 | SOX9 | c.825C= (p.Ile275=)
| |
17 | g.72123682C>G | CA400867122 | SOX9 | c.825C>G (p.Ile275Met)
| dbSNP gnomAD v4 |
17 | g.72123682C>T | CA8739034 | SOX9 | c.825C>T (p.Ile275=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123682dup | CA915952174 | SOX9 | c.825dup (p.Gly276ArgfsTer20)
| ClinVar dbSNP |
17 | g.72123683G>A | CA400867123 | SOX9 | c.826G>A (p.Gly276Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123683G>C | CA8739035 | SOX9 | c.826G>C (p.Gly276Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123683G= | CA2273926400 | SOX9 | c.826G= (p.Gly276=)
| |
17 | g.72123683G>T | CA400867124 | SOX9 | c.826G>T (p.Gly276Cys)
| dbSNP |
17 | g.72123684G>A | CA400867125 | SOX9 | c.827G>A (p.Gly276Asp)
| dbSNP |
17 | g.72123684G>C | CA400867126 | SOX9 | c.827G>C (p.Gly276Ala)
| dbSNP |
17 | g.72123684G>T | CA400867127 | SOX9 | c.827G>T (p.Gly276Val)
| dbSNP |
17 | g.72123685C>A | CA501352065 | SOX9 | c.828C>A (p.Gly276=)
| dbSNP |
17 | g.72123685C= | CA2273926401 | SOX9 | c.828C= (p.Gly276=)
| |
17 | g.72123685C>G | CA501352066 | SOX9 | c.828C>G (p.Gly276=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123685C>T | CA501352067 | SOX9 | c.828C>T (p.Gly276=)
| dbSNP gnomAD v4 |
17 | g.72123686G>A | CA400867128 | SOX9 | c.829G>A (p.Glu277Lys)
| dbSNP gnomAD v4 |
17 | g.72123686G>C | CA400867129 | SOX9 | c.829G>C (p.Glu277Gln)
| dbSNP |
17 | g.72123686G>T | CA400867130 | SOX9 | c.829G>T (p.Glu277Ter)
| ClinVar dbSNP COSMIC |
17 | g.72123687A>C | CA400867131 | SOX9 | c.830A>C (p.Glu277Ala)
| dbSNP |
17 | g.72123687A>G | CA400867132 | SOX9 | c.830A>G (p.Glu277Gly)
| dbSNP |
17 | g.72123687A>T | CA400867133 | SOX9 | c.830A>T (p.Glu277Val)
| dbSNP |
17 | g.72123688G>A | CA293783406 | SOX9 | c.831G>A (p.Glu277=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123688G>C | CA8739036 | SOX9 | c.831G>C (p.Glu277Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123688G= | CA2273926402 | SOX9 | c.831G= (p.Glu277=)
| |
17 | g.72123688G>T | CA400867134 | SOX9 | c.831G>T (p.Glu277Asp)
| dbSNP |
17 | g.72123689C>A | CA400867135 | SOX9 | c.832C>A (p.Leu278Met)
| dbSNP |
17 | g.72123689C>G | CA400867136 | SOX9 | c.832C>G (p.Leu278Val)
| dbSNP |
17 | g.72123689C>T | CA501352068 | SOX9 | c.832C>T (p.Leu278=)
| dbSNP |
17 | g.72123690T>A | CA400867137 | SOX9 | c.833T>A (p.Leu278Gln)
| dbSNP |
17 | g.72123690T>C | CA400867138 | SOX9 | c.833T>C (p.Leu278Pro)
| dbSNP |
17 | g.72123690T>G | CA400867139 | SOX9 | c.833T>G (p.Leu278Arg)
| |
17 | g.72123691G>A | CA501352069 | SOX9 | c.834G>A (p.Leu278=)
| dbSNP |
17 | g.72123691G>C | CA501352070 | SOX9 | c.834G>C (p.Leu278=)
| dbSNP COSMIC |
17 | g.72123691G>T | CA501352071 | SOX9 | c.834G>T (p.Leu278=)
| COSMIC |
17 | g.72123692A>C | CA400867140 | SOX9 | c.835A>C (p.Ser279Arg)
| |
17 | g.72123692A>G | CA400867141 | SOX9 | c.835A>G (p.Ser279Gly)
| dbSNP |
17 | g.72123692A>T | CA400867142 | SOX9 | c.835A>T (p.Ser279Cys)
| dbSNP gnomAD v4 |
17 | g.72123693G>A | CA400867143 | SOX9 | c.836G>A (p.Ser279Asn)
| dbSNP |
17 | g.72123693G>C | CA400867144 | SOX9 | c.836G>C (p.Ser279Thr)
| dbSNP |
17 | g.72123693G>T | CA400867145 | SOX9 | c.836G>T (p.Ser279Ile)
| |
17 | g.72123694C>A | CA400867146 | SOX9 | c.837C>A (p.Ser279Arg)
| dbSNP gnomAD v4 |
17 | g.72123694C>G | CA400867147 | SOX9 | c.837C>G (p.Ser279Arg)
| dbSNP |
17 | g.72123694C>T | CA501352072 | SOX9 | c.837C>T (p.Ser279=)
| dbSNP gnomAD v4 |
17 | g.72123695A= | CA2273926403 | SOX9 | c.838A= (p.Ser280=)
| |
17 | g.72123695A>C | CA400867148 | SOX9 | c.838A>C (p.Ser280Arg)
| |
17 | g.72123695A>G | CA8739037 | SOX9 | c.838A>G (p.Ser280Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123695A>T | CA400867149 | SOX9 | c.838A>T (p.Ser280Cys)
| dbSNP gnomAD v4 |
17 | g.72123696G>A | CA400867150 | SOX9 | c.839G>A (p.Ser280Asn)
| dbSNP |
17 | g.72123696G>C | CA400867151 | SOX9 | c.839G>C (p.Ser280Thr)
| dbSNP COSMIC |
17 | g.72123696G>T | CA400867152 | SOX9 | c.839G>T (p.Ser280Ile)
| |
17 | g.72123697C>A | CA400867153 | SOX9 | c.840C>A (p.Ser280Arg)
| dbSNP |
17 | g.72123697C= | CA2273926404 | SOX9 | c.840C= (p.Ser280=)
| |
17 | g.72123697C>G | CA400867154 | SOX9 | c.840C>G (p.Ser280Arg)
| dbSNP |
17 | g.72123697C>T | CA501352073 | SOX9 | c.840C>T (p.Ser280=)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123698G>A | CA400867155 | SOX9 | c.841G>A (p.Asp281Asn)
| dbSNP |
17 | g.72123698G>C | CA400867156 | SOX9 | c.841G>C (p.Asp281His)
| dbSNP |
17 | g.72123698G>T | CA400867157 | SOX9 | c.841G>T (p.Asp281Tyr)
| COSMIC |
17 | g.72123698_72123699insCAA | CA2552488489 | SOX9 | c.841_842insCAA (p.Asp281delinsAlaAsn)
| |
17 | g.72123699A>C | CA400867158 | SOX9 | c.842A>C (p.Asp281Ala)
| dbSNP |
17 | g.72123699A>G | CA400867159 | SOX9 | c.842A>G (p.Asp281Gly)
| dbSNP |
17 | g.72123699A>T | CA400867160 | SOX9 | c.842A>T (p.Asp281Val)
| dbSNP |
17 | g.72123700C>A | CA400867161 | SOX9 | c.843C>A (p.Asp281Glu)
| dbSNP |
17 | g.72123700C= | CA2273926405 | SOX9 | c.843C= (p.Asp281=)
| |
17 | g.72123700C>G | CA400867162 | SOX9 | c.843C>G (p.Asp281Glu)
| dbSNP gnomAD v4 |
17 | g.72123700C>T | CA8739038 | SOX9 | c.843C>T (p.Asp281=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123701G>A | CA400867164 | SOX9 | c.844G>A (p.Val282Ile)
| ClinVar dbSNP |
17 | g.72123701G>C | CA400867163 | SOX9 | c.844G>C (p.Val282Leu)
| dbSNP |
17 | g.72123701G>T | CA400867165 | SOX9 | c.844G>T (p.Val282Phe)
| |
17 | g.72123702T>A | CA400867166 | SOX9 | c.845T>A (p.Val282Asp)
| dbSNP |
17 | g.72123702T>C | CA400867167 | SOX9 | c.845T>C (p.Val282Ala)
| dbSNP |
17 | g.72123702T>G | CA400867168 | SOX9 | c.845T>G (p.Val282Gly)
| dbSNP |
17 | g.72123703C>A | CA501352074 | SOX9 | c.846C>A (p.Val282=)
| dbSNP |
17 | g.72123703C>G | CA501352075 | SOX9 | c.846C>G (p.Val282=)
| dbSNP |
17 | g.72123703C>T | CA501352077 | SOX9 | c.846C>T (p.Val282=)
| dbSNP |
17 | g.72123707_72123715dup | CA891842301 | SOX9 | c.850_858dup (p.Ile286_Glu287insSerAsnIle)
| |
17 | g.72123704A>C | CA400867169 | SOX9 | c.847A>C (p.Ile283Leu)
| dbSNP |
17 | g.72123704A>G | CA400867170 | SOX9 | c.847A>G (p.Ile283Val)
| |
17 | g.72123704A>T | CA400867171 | SOX9 | c.847A>T (p.Ile283Phe)
| dbSNP COSMIC |
17 | g.72123705T>A | CA400867172 | SOX9 | c.848T>A (p.Ile283Asn)
| dbSNP |
17 | g.72123705T>C | CA400867173 | SOX9 | c.848T>C (p.Ile283Thr)
| dbSNP |
17 | g.72123705T>G | CA400867174 | SOX9 | c.848T>G (p.Ile283Ser)
| dbSNP |
17 | g.72123706C>A | CA501352079 | SOX9 | c.849C>A (p.Ile283=)
| dbSNP |
17 | g.72123706C= | CA2273926406 | SOX9 | c.849C= (p.Ile283=)
| |
17 | g.72123706C>G | CA400867175 | SOX9 | c.849C>G (p.Ile283Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123706C>T | CA501352080 | SOX9 | c.849C>T (p.Ile283=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123707T>A | CA400867176 | SOX9 | c.850T>A (p.Ser284Thr)
| |
17 | g.72123707T>C | CA400867177 | SOX9 | c.850T>C (p.Ser284Pro)
| gnomAD v4 |
17 | g.72123707T>G | CA400867178 | SOX9 | c.850T>G (p.Ser284Ala)
| gnomAD v4 |
17 | g.72123708C>A | CA400867181 | SOX9 | c.851C>A (p.Ser284Tyr)
| dbSNP |
17 | g.72123708C>G | CA400867179 | SOX9 | c.851C>G (p.Ser284Cys)
| dbSNP |
17 | g.72123708C>T | CA400867180 | SOX9 | c.851C>T (p.Ser284Phe)
| dbSNP COSMIC |
17 | g.72123709C>A | CA501352081 | SOX9 | c.852C>A (p.Ser284=)
| |
17 | g.72123709C>G | CA501352082 | SOX9 | c.852C>G (p.Ser284=)
| |
17 | g.72123709C>T | CA501352083 | SOX9 | c.852C>T (p.Ser284=)
| |
17 | g.72123710A>C | CA400867182 | SOX9 | c.853A>C (p.Asn285His)
| dbSNP |
17 | g.72123710A>G | CA400867184 | SOX9 | c.853A>G (p.Asn285Asp)
| dbSNP |
17 | g.72123710A>T | CA400867185 | SOX9 | c.853A>T (p.Asn285Tyr)
| dbSNP |
17 | g.72123711dup | CA2734004602 | SOX9 | c.854dup (p.Asn285LysfsTer11)
| dbSNP |