17 | g.72123544_72123563dup | CA645598912 | SOX9 | c.687_706dup (p.Thr236SerfsTer24)
| COSMIC |
17 | g.72123554G>A | CA400866859 | SOX9 | c.697G>A (p.Gly233Ser)
| dbSNP |
17 | g.72123554G>C | CA400866860 | SOX9 | c.697G>C (p.Gly233Arg)
| dbSNP |
17 | g.72123554G>T | CA400866861 | SOX9 | c.697G>T (p.Gly233Cys)
| dbSNP |
17 | g.72123555G>A | CA400866864 | SOX9 | c.698G>A (p.Gly233Asp)
| dbSNP |
17 | g.72123555G>C | CA400866862 | SOX9 | c.698G>C (p.Gly233Ala)
| dbSNP |
17 | g.72123555G>T | CA400866863 | SOX9 | c.698G>T (p.Gly233Val)
| dbSNP |
17 | g.72123556C>A | CA501351962 | SOX9 | c.699C>A (p.Gly233=)
| dbSNP |
17 | g.72123556C>G | CA501351963 | SOX9 | c.699C>G (p.Gly233=)
| dbSNP |
17 | g.72123556C>T | CA501351964 | SOX9 | c.699C>T (p.Gly233=)
| dbSNP |
17 | g.72123557_72123558dup | CA645598913 | SOX9 | c.700_701dup (p.Pro235HisfsTer19)
| COSMIC |
17 | g.72123557C>A | CA400866865 | SOX9 | c.700C>A (p.Pro234Thr)
| dbSNP |
17 | g.72123557C>G | CA400866866 | SOX9 | c.700C>G (p.Pro234Ala)
| dbSNP gnomAD v4 |
17 | g.72123557C>T | CA400866867 | SOX9 | c.700C>T (p.Pro234Ser)
| dbSNP |
17 | g.72123558C>A | CA400866868 | SOX9 | c.701C>A (p.Pro234Gln)
| dbSNP |
17 | g.72123558C>G | CA400866869 | SOX9 | c.701C>G (p.Pro234Arg)
| dbSNP |
17 | g.72123558C>T | CA400866870 | SOX9 | c.701C>T (p.Pro234Leu)
| dbSNP |
17 | g.72123559A= | CA2273926335 | SOX9 | c.702A= (p.Pro234=)
| |
17 | g.72123559A>C | CA501351965 | SOX9 | c.702A>C (p.Pro234=)
| dbSNP |
17 | g.72123559A>G | CA501351966 | SOX9 | c.702A>G (p.Pro234=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123559A>T | CA501351967 | SOX9 | c.702A>T (p.Pro234=)
| dbSNP |
17 | g.72123560C>A | CA400866871 | SOX9 | c.703C>A (p.Pro235Thr)
| |
17 | g.72123560C>G | CA400866872 | SOX9 | c.703C>G (p.Pro235Ala)
| dbSNP COSMIC |
17 | g.72123560C>T | CA400866873 | SOX9 | c.703C>T (p.Pro235Ser)
| dbSNP |
17 | g.72123561C>A | CA293783242 | SOX9 | c.704C>A (p.Pro235Gln)
| dbSNP |
17 | g.72123561C= | CA2273926336 | SOX9 | c.704C= (p.Pro235=)
| |
17 | g.72123561C>G | CA400866874 | SOX9 | c.704C>G (p.Pro235Arg)
| dbSNP |
17 | g.72123561C>T | CA400866875 | SOX9 | c.704C>T (p.Pro235Leu)
| ClinVar dbSNP |
17 | g.72123562G>A | CA501351968 | SOX9 | c.705G>A (p.Pro235=)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123562G>C | CA501351970 | SOX9 | c.705G>C (p.Pro235=)
| dbSNP |
17 | g.72123562G>T | CA501351969 | SOX9 | c.705G>T (p.Pro235=)
| dbSNP |
17 | g.72123562dup | CA2759522132 | SOX9 | c.705dup (p.Thr236AspfsTer16)
| |
17 | g.72123562_72123563del | CA2497030132 | SOX9 | c.705_706del (p.Thr236ProfsTer15)
| |
17 | g.72123562_72123563insC | CA2573050687 | SOX9 | c.705_706insC (p.Thr236HisfsTer16)
| dbSNP |
17 | g.72123562_72123563insCC | CA2573320478 | SOX9 | c.705_706insCC (p.Thr236ProfsTer18)
| |
17 | g.72123562_72123563insCCCCCCCCCCCC | CA2573130126 | SOX9 | c.705_706insCCCCCCCCCCCC (p.Pro235_Thr236insProProProPro)
| |
17 | g.72123563A>C | CA400866876 | SOX9 | c.706A>C (p.Thr236Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123563A>G | CA400866878 | SOX9 | c.706A>G (p.Thr236Ala)
| dbSNP |
17 | g.72123563A>T | CA400866877 | SOX9 | c.706A>T (p.Thr236Ser)
| dbSNP |
17 | g.72123563_72123564delinsAC | CA2273926337 | SOX9 | c.706_707delinsAC (p.Thr236=)
| |
17 | g.72123564C>A | CA400866879 | SOX9 | c.707C>A (p.Thr236Asn)
| gnomAD v4 |
17 | g.72123564C>G | CA400866881 | SOX9 | c.707C>G (p.Thr236Ser)
| |
17 | g.72123564C>T | CA400866880 | SOX9 | c.707C>T (p.Thr236Ile)
| |
17 | g.72123567_72123568insCCCCCCCC | CA2639603113 | SOX9 | c.710_711insCCCCCCCC (p.Thr239ProfsTer17)
| gnomAD v4 |
17 | g.72123567_72123568insCCCCCCCCC | CA2810344952 | SOX9 | c.710_711insCCCCCCCCC (p.Pro237_Pro238insProProPro)
| |
17 | g.72123567_72123568insCCCCCCCCCC | CA2639603114 | SOX9 | c.710_711insCCCCCCCCCC (p.Thr239ProfsTer16)
| gnomAD v4 |
17 | g.72123567dup | CA627589965 | SOX9 | c.710dup (p.Pro238ThrfsTer14)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123566_72123567dup | CA627589966 | SOX9 | c.709_710dup (p.Pro238HisfsTer16)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123565_72123567dup | CA2579753818 | SOX9 | c.708_710dup (p.Pro237_Pro238insPro)
| gnomAD v4 |
17 | g.72123564_72123567dup | CA2639603112 | SOX9 | c.707_710dup (p.Thr240HisfsTer13)
| gnomAD v4 |
17 | g.72123567del | CA2273926338 | SOX9 | c.710del (p.Pro237HisfsTer16)
| ClinVar dbSNP |
17 | g.72123565C>A | CA501351973 | SOX9 | c.708C>A (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123565C>G | CA501351972 | SOX9 | c.708C>G (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123565C>T | CA501351971 | SOX9 | c.708C>T (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123571_72123574del | CA2639603115 | SOX9 | c.714_717del (p.Thr239ProfsTer13)
| gnomAD v4 |
17 | g.72123566C>A | CA400866882 | SOX9 | c.709C>A (p.Pro237Thr)
| dbSNP |
17 | g.72123566C>G | CA400866883 | SOX9 | c.709C>G (p.Pro237Ala)
| dbSNP |
17 | g.72123566C>T | CA400866884 | SOX9 | c.709C>T (p.Pro237Ser)
| dbSNP |
17 | g.72123567C>A | CA400866885 | SOX9 | c.710C>A (p.Pro237Gln)
| dbSNP |
17 | g.72123567C>G | CA400866886 | SOX9 | c.710C>G (p.Pro237Arg)
| dbSNP |
17 | g.72123567C>T | CA400866887 | SOX9 | c.710C>T (p.Pro237Leu)
| dbSNP |
17 | g.72123568A= | CA2273926339 | SOX9 | c.711A= (p.Pro237=)
| |
17 | g.72123568A>C | CA501351974 | SOX9 | c.711A>C (p.Pro237=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123568A>G | CA501351976 | SOX9 | c.711A>G (p.Pro237=)
| |
17 | g.72123568A>T | CA501351975 | SOX9 | c.711A>T (p.Pro237=)
| |
17 | g.72123569C>A | CA400866888 | SOX9 | c.712C>A (p.Pro238Thr)
| dbSNP |
17 | g.72123569C= | CA2273926340 | SOX9 | c.712C= (p.Pro238=)
| |
17 | g.72123569C>G | CA400866889 | SOX9 | c.712C>G (p.Pro238Ala)
| dbSNP gnomAD v2 |
17 | g.72123569C>T | CA400866890 | SOX9 | c.712C>T (p.Pro238Ser)
| dbSNP |
17 | g.72123571dup | CA986080591 | SOX9 | c.714dup (p.Thr239HisfsTer13)
| gnomAD v3 gnomAD v4 |
17 | g.72123570_72123571dup | CA2639603116 | SOX9 | c.713_714dup (p.Thr239ProfsTer15)
| gnomAD v4 |
17 | g.72123570C>A | CA400866891 | SOX9 | c.713C>A (p.Pro238His)
| dbSNP |
17 | g.72123570C>G | CA400866892 | SOX9 | c.713C>G (p.Pro238Arg)
| |
17 | g.72123570C>T | CA400866893 | SOX9 | c.713C>T (p.Pro238Leu)
| dbSNP |
17 | g.72123571C>A | CA501351977 | SOX9 | c.714C>A (p.Pro238=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123571C= | CA2273926341 | SOX9 | c.714C= (p.Pro238=)
| |
17 | g.72123571C>G | CA293783248 | SOX9 | c.714C>G (p.Pro238=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123571C>T | CA501351978 | SOX9 | c.714C>T (p.Pro238=)
| |
17 | g.72123571_72123572insCCCCCCCCCCAA | CA2639603117 | SOX9 | c.714_715insCCCCCCCCCCAA (p.Pro238_Thr239insProProProGln)
| gnomAD v4 |
17 | g.72123571_72123572insCCCCCCCCCCCA | CA2499306824 | SOX9 | c.714_715insCCCCCCCCCCCA (p.Pro238_Thr239insProProProPro)
| |
17 | g.72123572A= | CA2273926342 | SOX9 | c.715A= (p.Thr239=)
| |
17 | g.72123572A>C | CA400866894 | SOX9 | c.715A>C (p.Thr239Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123572A>G | CA400866896 | SOX9 | c.715A>G (p.Thr239Ala)
| |
17 | g.72123572A>T | CA400866895 | SOX9 | c.715A>T (p.Thr239Ser)
| dbSNP |
17 | g.72123572dup | CA2695226895 | SOX9 | c.715dup (p.Thr239AsnfsTer13)
| |
17 | g.72123572_72123575del | CA986080596 | SOX9 | c.715_718del (p.Thr239ProfsTer13)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123572_72123573insAAC | CA2639603118 | SOX9 | c.715_716insAAC (p.Thr239delinsLysPro)
| gnomAD v4 |
17 | g.72123573C>A | CA400866897 | SOX9 | c.716C>A (p.Thr239Asn)
| dbSNP |
17 | g.72123573C>G | CA400866898 | SOX9 | c.716C>G (p.Thr239Ser)
| dbSNP |
17 | g.72123573C>T | CA400866899 | SOX9 | c.716C>T (p.Thr239Ile)
| dbSNP |
17 | g.72123574dup | CA986080599 | SOX9 | c.717dup (p.Thr240HisfsTer12)
| gnomAD v3 gnomAD v4 |
17 | g.72123574C>A | CA501351980 | SOX9 | c.717C>A (p.Thr239=)
| dbSNP |
17 | g.72123574C= | CA2273926343 | SOX9 | c.717C= (p.Thr239=)
| |
17 | g.72123574C>G | CA501351982 | SOX9 | c.717C>G (p.Thr239=)
| dbSNP |
17 | g.72123574C>T | CA8739010 | SOX9 | c.717C>T (p.Thr239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123574_72123575insCCCCCCCCAA | CA2580612136 | SOX9 | c.717_718insCCCCCCCCAA (p.Thr240ProfsTer15)
| gnomAD v4 |
17 | g.72123575A= | CA2273926344 | SOX9 | c.718A= (p.Thr240=)
| |
17 | g.72123575A>C | CA400866900 | SOX9 | c.718A>C (p.Thr240Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123575A>G | CA400866901 | SOX9 | c.718A>G (p.Thr240Ala)
| gnomAD v4 |
17 | g.72123575A>T | CA400866902 | SOX9 | c.718A>T (p.Thr240Ser)
| |
17 | g.72123575_72123576delinsAC | CA2273926345 | SOX9 | c.718_719delinsAC (p.Thr240=)
| |
17 | g.72123575_72123576insAC | CA2639603119 | SOX9 | c.718_719insAC (p.Thr240AsnfsTer14)
| gnomAD v4 |
17 | g.72123576C>A | CA400866903 | SOX9 | c.719C>A (p.Thr240Asn)
| dbSNP |
17 | g.72123576C= | CA2273926346 | SOX9 | c.719C= (p.Thr240=)
| |
17 | g.72123576C>G | CA8739011 | SOX9 | c.719C>G (p.Thr240Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123576C>T | CA400866904 | SOX9 | c.719C>T (p.Thr240Ile)
| dbSNP |
17 | g.72123580dup | CA627589968 | SOX9 | c.723dup (p.Lys242GlnfsTer10)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123580del | CA915952173 | SOX9 | c.723del (p.Thr243ProfsTer10)
| ClinVar dbSNP |
17 | g.72123579_72123580del | CA2810344953 | SOX9 | c.722_723del (p.Pro241GlnfsTer10)
| |
17 | g.72123577C>A | CA501351983 | SOX9 | c.720C>A (p.Thr240=)
| dbSNP |
17 | g.72123577C>G | CA501351984 | SOX9 | c.720C>G (p.Thr240=)
| |
17 | g.72123577C>T | CA501351985 | SOX9 | c.720C>T (p.Thr240=)
| dbSNP gnomAD v4 |
17 | g.72123578C>A | CA400866907 | SOX9 | c.721C>A (p.Pro241Thr)
| dbSNP |
17 | g.72123578C= | CA2273926347 | SOX9 | c.721C= (p.Pro241=)
| |
17 | g.72123578C>G | CA400866906 | SOX9 | c.721C>G (p.Pro241Ala)
| |
17 | g.72123578C>T | CA400866905 | SOX9 | c.721C>T (p.Pro241Ser)
| dbSNP gnomAD v2 |
17 | g.72123579C>A | CA400866908 | SOX9 | c.722C>A (p.Pro241His)
| dbSNP |
17 | g.72123579C>G | CA400866909 | SOX9 | c.722C>G (p.Pro241Arg)
| dbSNP |
17 | g.72123579C>T | CA400866910 | SOX9 | c.722C>T (p.Pro241Leu)
| dbSNP |
17 | g.72123580_72123581insCAAACC | CA2639603120 | SOX9 | c.723_724insCAAACC (p.Pro241_Lys242insGlnThr)
| gnomAD v4 |
17 | g.72123580C>A | CA501351986 | SOX9 | c.723C>A (p.Pro241=)
| |
17 | g.72123580C>G | CA501351987 | SOX9 | c.723C>G (p.Pro241=)
| |
17 | g.72123580C>T | CA501351988 | SOX9 | c.723C>T (p.Pro241=)
| dbSNP COSMIC |
17 | g.72123580_72123581insCAAAACCAC | CA2639603121 | SOX9 | c.723_724insCAAAACCAC (p.Pro241_Lys242insGlnAsnHis)
| gnomAD v4 |
17 | g.72123581A= | CA2273926348 | SOX9 | c.724A= (p.Lys242=)
| |
17 | g.72123581A>C | CA400866911 | SOX9 | c.724A>C (p.Lys242Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123581A>G | CA400866912 | SOX9 | c.724A>G (p.Lys242Glu)
| |
17 | g.72123581A>T | CA400866913 | SOX9 | c.724A>T (p.Lys242Ter)
| |
17 | g.72123581_72123584del | CA2639603122 | SOX9 | c.724_727del (p.Lys242ProfsTer10)
| gnomAD v4 |
17 | g.72123582_72123584del | CA2810344954 | SOX9 | c.725_727del (p.Lys242del)
| |
17 | g.72123582A>C | CA400866916 | SOX9 | c.725A>C (p.Lys242Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123582A>G | CA400866914 | SOX9 | c.725A>G (p.Lys242Arg)
| |
17 | g.72123582A>T | CA400866915 | SOX9 | c.725A>T (p.Lys242Ile)
| |
17 | g.72123583A>C | CA400866917 | SOX9 | c.726A>C (p.Lys242Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123583A>G | CA501351989 | SOX9 | c.726A>G (p.Lys242=)
| |
17 | g.72123583A>T | CA400866918 | SOX9 | c.726A>T (p.Lys242Asn)
| dbSNP |
17 | g.72123583_72123584insCCC | CA2639603123 | SOX9 | c.726_727insCCC (p.Lys242_Thr243insPro)
| gnomAD v4 |
17 | g.72123583_72123584insCACACCCAACAC | CA2810344955 | SOX9 | c.726_727insCACACCCAACAC (p.Lys242_Thr243insHisThrGlnHis)
| |
17 | g.72123584A= | CA2273926349 | SOX9 | c.727A= (p.Thr243=)
| |
17 | g.72123584A>C | CA400866919 | SOX9 | c.727A>C (p.Thr243Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123584A>G | CA400866920 | SOX9 | c.727A>G (p.Thr243Ala)
| dbSNP |
17 | g.72123584A>T | CA400866921 | SOX9 | c.727A>T (p.Thr243Ser)
| dbSNP |
17 | g.72123585C>A | CA400866922 | SOX9 | c.728C>A (p.Thr243Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123585C>G | CA400866924 | SOX9 | c.728C>G (p.Thr243Ser)
| dbSNP |
17 | g.72123585C>T | CA400866923 | SOX9 | c.728C>T (p.Thr243Ile)
| dbSNP |
17 | g.72123585_72123586insACACC | CA2810344956 | SOX9 | c.728_729insACACC (p.Asp244HisfsTer11)
| |
17 | g.72123586C>A | CA501351990 | SOX9 | c.729C>A (p.Thr243=)
| dbSNP |
17 | g.72123586C= | CA2273926350 | SOX9 | c.729C= (p.Thr243=)
| |
17 | g.72123586C>G | CA501351991 | SOX9 | c.729C>G (p.Thr243=)
| dbSNP |
17 | g.72123586C>T | CA501351992 | SOX9 | c.729C>T (p.Thr243=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123587del | CA2597776577 | SOX9 | c.730del (p.Asp244ThrfsTer9)
| gnomAD v3 gnomAD v4 |
17 | g.72123587G>A | CA400866925 | SOX9 | c.730G>A (p.Asp244Asn)
| gnomAD v4 |
17 | g.72123587G>C | CA400866926 | SOX9 | c.730G>C (p.Asp244His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123587G= | CA2273926351 | SOX9 | c.730G= (p.Asp244=)
| |
17 | g.72123587G>T | CA400866927 | SOX9 | c.730G>T (p.Asp244Tyr)
| |
17 | g.72123588A>C | CA400866928 | SOX9 | c.731A>C (p.Asp244Ala)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123588A>G | CA400866929 | SOX9 | c.731A>G (p.Asp244Gly)
| dbSNP |
17 | g.72123588A>T | CA400866930 | SOX9 | c.731A>T (p.Asp244Val)
| dbSNP |
17 | g.72123589C>A | CA400866931 | SOX9 | c.732C>A (p.Asp244Glu)
| dbSNP |
17 | g.72123589C>G | CA400866932 | SOX9 | c.732C>G (p.Asp244Glu)
| dbSNP |
17 | g.72123589C>T | CA501351994 | SOX9 | c.732C>T (p.Asp244=)
| dbSNP gnomAD v4 |
17 | g.72123590G>A | CA8739012 | SOX9 | c.733G>A (p.Val245Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123590G>C | CA400866933 | SOX9 | c.733G>C (p.Val245Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123590G= | CA2273926352 | SOX9 | c.733G= (p.Val245=)
| |
17 | g.72123590G>T | CA400866934 | SOX9 | c.733G>T (p.Val245Leu)
| dbSNP gnomAD v2 |
17 | g.72123591T>A | CA400866935 | SOX9 | c.734T>A (p.Val245Glu)
| |
17 | g.72123591T>C | CA400866937 | SOX9 | c.734T>C (p.Val245Ala)
| dbSNP gnomAD v4 |
17 | g.72123591T>G | CA400866936 | SOX9 | c.734T>G (p.Val245Gly)
| dbSNP gnomAD v4 |
17 | g.72123592G>A | CA501351995 | SOX9 | c.735G>A (p.Val245=)
| dbSNP |
17 | g.72123592G>C | CA501351996 | SOX9 | c.735G>C (p.Val245=)
| dbSNP |
17 | g.72123592G= | CA2273926353 | SOX9 | c.735G= (p.Val245=)
| |
17 | g.72123592G>T | CA501351997 | SOX9 | c.735G>T (p.Val245=)
| |
17 | g.72123593C>A | CA400866938 | SOX9 | c.736C>A (p.Gln246Lys)
| |
17 | g.72123593C>G | CA400866940 | SOX9 | c.736C>G (p.Gln246Glu)
| dbSNP |
17 | g.72123593C>T | CA400866939 | SOX9 | c.736C>T (p.Gln246Ter)
| dbSNP |
17 | g.72123593dup | CA115582 | SOX9 | c.736dup (p.Gln246ProfsTer6)
| ClinVar dbSNP |
17 | g.72123594A= | CA2273926355 | SOX9 | c.737A= (p.Gln246=)
| |
17 | g.72123594A>C | CA8739013 | SOX9 | c.737A>C (p.Gln246Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123594A>G | CA400866941 | SOX9 | c.737A>G (p.Gln246Arg)
| dbSNP |
17 | g.72123594A>T | CA400866942 | SOX9 | c.737A>T (p.Gln246Leu)
| dbSNP gnomAD v4 |
17 | g.72123594_72123595delinsAG | CA2273926354 | SOX9 | c.737_738delinsAG (p.Gln246=)
| |
17 | g.72123595del | CA16620597 | SOX9 | c.738del (p.Gln246HisfsTer7)
| ClinVar dbSNP |
17 | g.72123595G>A | CA501351998 | SOX9 | c.738G>A (p.Gln246=)
| dbSNP |
17 | g.72123595G>C | CA400866943 | SOX9 | c.738G>C (p.Gln246His)
| dbSNP gnomAD v4 |
17 | g.72123595G>T | CA400866944 | SOX9 | c.738G>T (p.Gln246His)
| gnomAD v4 |
17 | g.72123596C>A | CA8739014 | SOX9 | c.739C>A (p.Pro247Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123596C= | CA2273926356 | SOX9 | c.739C= (p.Pro247=)
| |
17 | g.72123596C>G | CA400866946 | SOX9 | c.739C>G (p.Pro247Ala)
| dbSNP |
17 | g.72123596C>T | CA400866945 | SOX9 | c.739C>T (p.Pro247Ser)
| dbSNP |
17 | g.72123597C>A | CA400866947 | SOX9 | c.740C>A (p.Pro247Gln)
| |
17 | g.72123597C= | CA2273926357 | SOX9 | c.740C= (p.Pro247=)
| |
17 | g.72123597C>G | CA400866948 | SOX9 | c.740C>G (p.Pro247Arg)
| dbSNP |
17 | g.72123597C>T | CA400866949 | SOX9 | c.740C>T (p.Pro247Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123598_72123610del | CA2580060342 | SOX9 | c.741_753del (p.Gly248Ter)
| |
17 | g.72123598G>A | CA501351999 | SOX9 | c.741G>A (p.Pro247=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123598G>C | CA501352000 | SOX9 | c.741G>C (p.Pro247=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123598G= | CA2273926358 | SOX9 | c.741G= (p.Pro247=)
| |
17 | g.72123598G>T | CA501352001 | SOX9 | c.741G>T (p.Pro247=)
| dbSNP COSMIC |
17 | g.72123599G>A | CA400866950 | SOX9 | c.742G>A (p.Gly248Ser)
| dbSNP |
17 | g.72123599G>C | CA400866951 | SOX9 | c.742G>C (p.Gly248Arg)
| dbSNP |
17 | g.72123599G>T | CA400866952 | SOX9 | c.742G>T (p.Gly248Cys)
| dbSNP |
17 | g.72123600G>A | CA400866953 | SOX9 | c.743G>A (p.Gly248Asp)
| dbSNP gnomAD v4 |
17 | g.72123600G>C | CA400866955 | SOX9 | c.743G>C (p.Gly248Ala)
| dbSNP |
17 | g.72123600G>T | CA400866954 | SOX9 | c.743G>T (p.Gly248Val)
| COSMIC |
17 | g.72123600_72123601dup | CA645598914 | SOX9 | c.743_744dup (p.Lys249AlafsTer5)
| COSMIC |
17 | g.72123601C>A | CA501352002 | SOX9 | c.744C>A (p.Gly248=)
| dbSNP |
17 | g.72123601C= | CA2273926359 | SOX9 | c.744C= (p.Gly248=)
| |
17 | g.72123601C>G | CA501352003 | SOX9 | c.744C>G (p.Gly248=)
| dbSNP |
17 | g.72123601C>T | CA501352004 | SOX9 | c.744C>T (p.Gly248=)
| dbSNP |
17 | g.72123602A= | CA2273926360 | SOX9 | c.745A= (p.Lys249=)
| |
17 | g.72123602A>C | CA400866956 | SOX9 | c.745A>C (p.Lys249Gln)
| dbSNP gnomAD v4 |
17 | g.72123602A>G | CA400866957 | SOX9 | c.745A>G (p.Lys249Glu)
| dbSNP |
17 | g.72123602A>T | CA400866958 | SOX9 | c.745A>T (p.Lys249Ter)
| |
17 | g.72123603A>C | CA400866959 | SOX9 | c.746A>C (p.Lys249Thr)
| |
17 | g.72123603A>G | CA400866960 | SOX9 | c.746A>G (p.Lys249Arg)
| dbSNP |
17 | g.72123603A>T | CA400866961 | SOX9 | c.746A>T (p.Lys249Met)
| dbSNP |
17 | g.72123604G>A | CA501352006 | SOX9 | c.747G>A (p.Lys249=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123604G>C | CA400866962 | SOX9 | c.747G>C (p.Lys249Asn)
| gnomAD v4 |
17 | g.72123604G= | CA2273926361 | SOX9 | c.747G= (p.Lys249=)
| |
17 | g.72123604G>T | CA400866963 | SOX9 | c.747G>T (p.Lys249Asn)
| dbSNP |
17 | g.72123605G>A | CA400866964 | SOX9 | c.748G>A (p.Ala250Thr)
| dbSNP |
17 | g.72123605G>C | CA400866965 | SOX9 | c.748G>C (p.Ala250Pro)
| dbSNP |
17 | g.72123605G>T | CA400866966 | SOX9 | c.748G>T (p.Ala250Ser)
| |
17 | g.72123606C>A | CA400866967 | SOX9 | c.749C>A (p.Ala250Asp)
| dbSNP |
17 | g.72123606C>G | CA400866969 | SOX9 | c.749C>G (p.Ala250Gly)
| dbSNP |
17 | g.72123606C>T | CA400866968 | SOX9 | c.749C>T (p.Ala250Val)
| dbSNP |
17 | g.72123607T>A | CA501352009 | SOX9 | c.750T>A (p.Ala250=)
| dbSNP |
17 | g.72123607T>C | CA501352007 | SOX9 | c.750T>C (p.Ala250=)
| dbSNP |
17 | g.72123607T>G | CA501352008 | SOX9 | c.750T>G (p.Ala250=)
| dbSNP |
17 | g.72123608G>A | CA400866970 | SOX9 | c.751G>A (p.Asp251Asn)
| dbSNP |
17 | g.72123608G>C | CA400866971 | SOX9 | c.751G>C (p.Asp251His)
| dbSNP |
17 | g.72123608G= | CA2273926362 | SOX9 | c.751G= (p.Asp251=)
| |
17 | g.72123608G>T | CA8739015 | SOX9 | c.751G>T (p.Asp251Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123609A>C | CA400866972 | SOX9 | c.752A>C (p.Asp251Ala)
| dbSNP |
17 | g.72123609A>G | CA400866973 | SOX9 | c.752A>G (p.Asp251Gly)
| dbSNP |
17 | g.72123609A>T | CA400866974 | SOX9 | c.752A>T (p.Asp251Val)
| dbSNP |
17 | g.72123610C>A | CA400866975 | SOX9 | c.753C>A (p.Asp251Glu)
| |
17 | g.72123610C>G | CA400866976 | SOX9 | c.753C>G (p.Asp251Glu)
| dbSNP |
17 | g.72123610C>T | CA501352010 | SOX9 | c.753C>T (p.Asp251=)
| |
17 | g.72123611C>A | CA400866977 | SOX9 | c.754C>A (p.Leu252Met)
| dbSNP |
17 | g.72123611C>G | CA400866978 | SOX9 | c.754C>G (p.Leu252Val)
| |
17 | g.72123611C>T | CA501352011 | SOX9 | c.754C>T (p.Leu252=)
| |
17 | g.72123612T>A | CA400866979 | SOX9 | c.755T>A (p.Leu252Gln)
| dbSNP gnomAD v4 |
17 | g.72123612T>C | CA8739016 | SOX9 | c.755T>C (p.Leu252Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123612T>G | CA400866980 | SOX9 | c.755T>G (p.Leu252Arg)
| |
17 | g.72123612T= | CA2273926363 | SOX9 | c.755T= (p.Leu252=)
| |
17 | g.72123613G>A | CA501352012 | SOX9 | c.756G>A (p.Leu252=)
| dbSNP |
17 | g.72123613G>C | CA501352013 | SOX9 | c.756G>C (p.Leu252=)
| dbSNP gnomAD v4 |
17 | g.72123613G>T | CA501352014 | SOX9 | c.756G>T (p.Leu252=)
| |
17 | g.72123614A>C | CA400866981 | SOX9 | c.757A>C (p.Lys253Gln)
| |
17 | g.72123614A>G | CA400866983 | SOX9 | c.757A>G (p.Lys253Glu)
| dbSNP |
17 | g.72123614A>T | CA400866982 | SOX9 | c.757A>T (p.Lys253Ter)
| |
17 | g.72123615A>C | CA400866984 | SOX9 | c.758A>C (p.Lys253Thr)
| |
17 | g.72123615A>G | CA400866985 | SOX9 | c.758A>G (p.Lys253Arg)
| dbSNP |
17 | g.72123615A>T | CA400866986 | SOX9 | c.758A>T (p.Lys253Met)
| dbSNP |
17 | g.72123616G>A | CA501352017 | SOX9 | c.759G>A (p.Lys253=)
| dbSNP |
17 | g.72123616G>C | CA400866987 | SOX9 | c.759G>C (p.Lys253Asn)
| dbSNP |
17 | g.72123616G>T | CA400866988 | SOX9 | c.759G>T (p.Lys253Asn)
| |
17 | g.72123619_72123627del | CA2576374513 | SOX9 | c.762_770del (p.Glu255_Arg257del)
| |
17 | g.72123617C>A | CA501352018 | SOX9 | c.760C>A (p.Arg254=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123617C= | CA2273926364 | SOX9 | c.760C= (p.Arg254=)
| |
17 | g.72123617C>G | CA400866989 | SOX9 | c.760C>G (p.Arg254Gly)
| gnomAD v4 |
17 | g.72123617C>T | CA400866990 | SOX9 | c.760C>T (p.Arg254Ter)
| ClinVar dbSNP COSMIC |
17 | g.72123618G>A | CA400866991 | SOX9 | c.761G>A (p.Arg254Gln)
| gnomAD v4 COSMIC |
17 | g.72123618G>C | CA8739018 | SOX9 | c.761G>C (p.Arg254Pro)
| dbSNP ExAC gnomAD v4 |
17 | g.72123618G= | CA2273926365 | SOX9 | c.761G= (p.Arg254=)
| |
17 | g.72123618G>T | CA8739017 | SOX9 | c.761G>T (p.Arg254Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123621_72123622del | CA645598915 | SOX9 | c.764_765del (p.Glu255GlyfsTer?)
| COSMIC |
17 | g.72123619A>C | CA501352019 | SOX9 | c.762A>C (p.Arg254=)
| |
17 | g.72123619A>G | CA501352020 | SOX9 | c.762A>G (p.Arg254=)
| dbSNP |
17 | g.72123619A>T | CA501352021 | SOX9 | c.762A>T (p.Arg254=)
| dbSNP |
17 | g.72123620G>A | CA400866993 | SOX9 | c.763G>A (p.Glu255Lys)
| ClinVar dbSNP |
17 | g.72123620G>C | CA400866994 | SOX9 | c.763G>C (p.Glu255Gln)
| |
17 | g.72123620G>T | CA400866992 | SOX9 | c.763G>T (p.Glu255Ter)
| dbSNP |
17 | g.72123621A>C | CA400866997 | SOX9 | c.764A>C (p.Glu255Ala)
| |
17 | g.72123621A>G | CA400866995 | SOX9 | c.764A>G (p.Glu255Gly)
| dbSNP |
17 | g.72123621A>T | CA400866996 | SOX9 | c.764A>T (p.Glu255Val)
| dbSNP |
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 |