17 | g.72123904_72123987del | CA913189140 | SOX9 | c.1047_1130del (p.Pro350_Pro377del)
| gnomAD v4 |
17 | g.72123906_72123989del | CA2639603158 | SOX9 | c.1049_1132del (p.Pro350_Pro377del)
| gnomAD v4 |
17 | g.72123950_72123994del | CA2639603169 | SOX9 | c.1093_1137del (p.Ala365_Ala379del)
| gnomAD v4 |
17 | g.72123967_72123987del | CA627589967 | SOX9 | c.1110_1130del (p.Ala371_Pro377del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123987del | CA2639603209 | SOX9 | c.1130del (p.Pro377HisfsTer6)
| gnomAD v4 |
17 | g.72123987C>A | CA400867770 | SOX9 | c.1130C>A (p.Pro377Gln)
| gnomAD v4 |
17 | g.72123987C>G | CA400867771 | SOX9 | c.1130C>G (p.Pro377Arg)
| |
17 | g.72123987C>T | CA400867772 | SOX9 | c.1130C>T (p.Pro377Leu)
| dbSNP |
17 | g.72123988A>C | CA501432759 | SOX9 | c.1131A>C (p.Pro377=)
| dbSNP |
17 | g.72123988A>G | CA501432760 | SOX9 | c.1131A>G (p.Pro377=)
| dbSNP |
17 | g.72123988A>T | CA501432761 | SOX9 | c.1131A>T (p.Pro377=)
| dbSNP |
17 | g.72123989C>A | CA400867775 | SOX9 | c.1132C>A (p.Gln378Lys)
| gnomAD v4 |
17 | g.72123989C>G | CA400867773 | SOX9 | c.1132C>G (p.Gln378Glu)
| dbSNP |
17 | g.72123989C>T | CA400867774 | SOX9 | c.1132C>T (p.Gln378Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123990A= | CA2273926586 | SOX9 | c.1133A= (p.Gln378=)
| |
17 | g.72123990A>C | CA400867776 | SOX9 | c.1133A>C (p.Gln378Pro)
| dbSNP gnomAD v4 |
17 | g.72123990A>G | CA8739106 | SOX9 | c.1133A>G (p.Gln378Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123990A>T | CA400867777 | SOX9 | c.1133A>T (p.Gln378Leu)
| dbSNP gnomAD v4 |
17 | g.72123991G>A | CA501432762 | SOX9 | c.1134G>A (p.Gln378=)
| dbSNP gnomAD v4 |
17 | g.72123991G>C | CA400867778 | SOX9 | c.1134G>C (p.Gln378His)
| |
17 | g.72123991G>T | CA400867779 | SOX9 | c.1134G>T (p.Gln378His)
| |
17 | g.72123991_72123992dup | CA645598936 | SOX9 | c.1134_1135dup (p.Ala379GlyfsTer5)
| COSMIC |
17 | g.72123992G>A | CA400867782 | SOX9 | c.1135G>A (p.Ala379Thr)
| |
17 | g.72123992G>C | CA400867780 | SOX9 | c.1135G>C (p.Ala379Pro)
| |
17 | g.72123992G>T | CA400867781 | SOX9 | c.1135G>T (p.Ala379Ser)
| gnomAD v4 |
17 | g.72123993C>A | CA8739107 | SOX9 | c.1136C>A (p.Ala379Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123993C= | CA2273926587 | SOX9 | c.1136C= (p.Ala379=)
| |
17 | g.72123993C>G | CA400867783 | SOX9 | c.1136C>G (p.Ala379Gly)
| dbSNP |
17 | g.72123993C>T | CA400867784 | SOX9 | c.1136C>T (p.Ala379Val)
| dbSNP gnomAD v4 |
17 | g.72123994G>A | CA8739108 | SOX9 | c.1137G>A (p.Ala379=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123994G>C | CA501432764 | SOX9 | c.1137G>C (p.Ala379=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123994G= | CA2273926588 | SOX9 | c.1137G= (p.Ala379=)
| |
17 | g.72123994G>T | CA501432763 | SOX9 | c.1137G>T (p.Ala379=)
| gnomAD v4 |
17 | g.72123995C>A | CA400867785 | SOX9 | c.1138C>A (p.His380Asn)
| dbSNP gnomAD v4 |
17 | g.72123995C>G | CA400867786 | SOX9 | c.1138C>G (p.His380Asp)
| dbSNP |
17 | g.72123995C>T | CA400867787 | SOX9 | c.1138C>T (p.His380Tyr)
| |
17 | g.72123996A= | CA2273926590 | SOX9 | c.1139A= (p.His380=)
| |
17 | g.72123996A>C | CA400867790 | SOX9 | c.1139A>C (p.His380Pro)
| |
17 | g.72123996A>G | CA400867788 | SOX9 | c.1139A>G (p.His380Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123996A>T | CA400867789 | SOX9 | c.1139A>T (p.His380Leu)
| |
17 | g.72123996_72124005delinsACACGCTGAC | CA2273926589 | SOX9 | c.1139_1148delinsACACGCTGAC (p.His380=)
| |
17 | g.72123997C>A | CA400867791 | SOX9 | c.1140C>A (p.His380Gln)
| gnomAD v4 |
17 | g.72123997C= | CA2273926592 | SOX9 | c.1140C= (p.His380=)
| |
17 | g.72123997C>G | CA400867792 | SOX9 | c.1140C>G (p.His380Gln)
| dbSNP |
17 | g.72123997C>T | CA501432839 | SOX9 | c.1140C>T (p.His380=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124005_72124013dup | CA627589915 | SOX9 | c.1148_1156dup (p.Leu385_Ser386insThrThrLeu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124005_72124013del | CA2273926591 | SOX9 | c.1148_1156del (p.Thr383_Leu385del)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123998A>C | CA400867793 | SOX9 | c.1141A>C (p.Thr381Pro)
| dbSNP |
17 | g.72123998A>G | CA400867794 | SOX9 | c.1141A>G (p.Thr381Ala)
| |
17 | g.72123998A>T | CA400867795 | SOX9 | c.1141A>T (p.Thr381Ser)
| dbSNP |
17 | g.72123999C>A | CA400867796 | SOX9 | c.1142C>A (p.Thr381Lys)
| gnomAD v4 |
17 | g.72123999C>G | CA400867798 | SOX9 | c.1142C>G (p.Thr381Arg)
| |
17 | g.72123999C>T | CA400867797 | SOX9 | c.1142C>T (p.Thr381Met)
| gnomAD v4 |
17 | g.72124000G>A | CA8739110 | SOX9 | c.1143G>A (p.Thr381=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124000G>C | CA501432840 | SOX9 | c.1143G>C (p.Thr381=)
| dbSNP |
17 | g.72124000G= | CA2273926593 | SOX9 | c.1143G= (p.Thr381=)
| |
17 | g.72124000G>T | CA8739109 | SOX9 | c.1143G>T (p.Thr381=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124001C>A | CA400867799 | SOX9 | c.1144C>A (p.Leu382Met)
| dbSNP gnomAD v4 |
17 | g.72124001C= | CA2273926594 | SOX9 | c.1144C= (p.Leu382=)
| |
17 | g.72124001C>G | CA400867800 | SOX9 | c.1144C>G (p.Leu382Val)
| dbSNP |
17 | g.72124001C>T | CA293783840 | SOX9 | c.1144C>T (p.Leu382=)
| dbSNP gnomAD v4 |
17 | g.72124002T>A | CA400867801 | SOX9 | c.1145T>A (p.Leu382Gln)
| dbSNP |
17 | g.72124002T>C | CA400867802 | SOX9 | c.1145T>C (p.Leu382Pro)
| dbSNP |
17 | g.72124002T>G | CA400867803 | SOX9 | c.1145T>G (p.Leu382Arg)
| |
17 | g.72124003G>A | CA501432841 | SOX9 | c.1146G>A (p.Leu382=)
| dbSNP |
17 | g.72124003G>C | CA501432842 | SOX9 | c.1146G>C (p.Leu382=)
| dbSNP |
17 | g.72124003G= | CA2273926595 | SOX9 | c.1146G= (p.Leu382=)
| |
17 | g.72124003G>T | CA8739111 | SOX9 | c.1146G>T (p.Leu382=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124004A>C | CA400867804 | SOX9 | c.1147A>C (p.Thr383Pro)
| |
17 | g.72124004A>G | CA400867805 | SOX9 | c.1147A>G (p.Thr383Ala)
| |
17 | g.72124004A>T | CA400867806 | SOX9 | c.1147A>T (p.Thr383Ser)
| |
17 | g.72124005C>A | CA400867807 | SOX9 | c.1148C>A (p.Thr383Asn)
| gnomAD v4 |
17 | g.72124005C>G | CA400867809 | SOX9 | c.1148C>G (p.Thr383Ser)
| dbSNP |
17 | g.72124005C>T | CA400867808 | SOX9 | c.1148C>T (p.Thr383Ile)
| dbSNP |
17 | g.72124006C>A | CA501432843 | SOX9 | c.1149C>A (p.Thr383=)
| dbSNP gnomAD v4 |
17 | g.72124006C>G | CA501432845 | SOX9 | c.1149C>G (p.Thr383=)
| dbSNP |
17 | g.72124006C>T | CA501432844 | SOX9 | c.1149C>T (p.Thr383=)
| dbSNP gnomAD v4 |
17 | g.72124007A>C | CA400867810 | SOX9 | c.1150A>C (p.Thr384Pro)
| dbSNP |
17 | g.72124007A>G | CA400867811 | SOX9 | c.1150A>G (p.Thr384Ala)
| dbSNP |
17 | g.72124007A>T | CA400867812 | SOX9 | c.1150A>T (p.Thr384Ser)
| dbSNP gnomAD v4 |
17 | g.72124008C>A | CA400867813 | SOX9 | c.1151C>A (p.Thr384Lys)
| dbSNP gnomAD v4 |
17 | g.72124008C= | CA2273926596 | SOX9 | c.1151C= (p.Thr384=)
| |
17 | g.72124008C>G | CA400867814 | SOX9 | c.1151C>G (p.Thr384Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124008C>T | CA400867815 | SOX9 | c.1151C>T (p.Thr384Met)
| dbSNP gnomAD v4 |
17 | g.72124009G>A | CA501432846 | SOX9 | c.1152G>A (p.Thr384=)
| dbSNP gnomAD v4 |
17 | g.72124009G>C | CA501432847 | SOX9 | c.1152G>C (p.Thr384=)
| dbSNP |
17 | g.72124009G>T | CA501432848 | SOX9 | c.1152G>T (p.Thr384=)
| dbSNP gnomAD v4 |
17 | g.72124010C>A | CA400867817 | SOX9 | c.1153C>A (p.Leu385Met)
| dbSNP gnomAD v4 |
17 | g.72124010C>G | CA400867816 | SOX9 | c.1153C>G (p.Leu385Val)
| dbSNP |
17 | g.72124010C>T | CA501432849 | SOX9 | c.1153C>T (p.Leu385=)
| dbSNP |
17 | g.72124011T>A | CA400867818 | SOX9 | c.1154T>A (p.Leu385Gln)
| dbSNP |
17 | g.72124011T>C | CA400867819 | SOX9 | c.1154T>C (p.Leu385Pro)
| dbSNP |
17 | g.72124011T>G | CA8739112 | SOX9 | c.1154T>G (p.Leu385Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124011T= | CA2273926597 | SOX9 | c.1154T= (p.Leu385=)
| |
17 | g.72124012G>A | CA501432850 | SOX9 | c.1155G>A (p.Leu385=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124012G>C | CA501432851 | SOX9 | c.1155G>C (p.Leu385=)
| dbSNP |
17 | g.72124012G= | CA2273926598 | SOX9 | c.1155G= (p.Leu385=)
| |
17 | g.72124012G>T | CA501432852 | SOX9 | c.1155G>T (p.Leu385=)
| |
17 | g.72124013A= | CA2273926600 | SOX9 | c.1156A= (p.Ser386=)
| |
17 | g.72124013A>C | CA400867820 | SOX9 | c.1156A>C (p.Ser386Arg)
| |
17 | g.72124013A>G | CA400867821 | SOX9 | c.1156A>G (p.Ser386Gly)
| dbSNP |
17 | g.72124013A>T | CA400867822 | SOX9 | c.1156A>T (p.Ser386Cys)
| dbSNP |
17 | g.72124016_72124018dup | CA2273926599 | SOX9 | c.1159_1161dup (p.Ser387_Glu388insSer)
| dbSNP |
17 | g.72124014G>A | CA400867823 | SOX9 | c.1157G>A (p.Ser386Asn)
| dbSNP |
17 | g.72124014G>C | CA400867825 | SOX9 | c.1157G>C (p.Ser386Thr)
| dbSNP |
17 | g.72124014G>T | CA400867824 | SOX9 | c.1157G>T (p.Ser386Ile)
| |
17 | g.72124015C>A | CA400867826 | SOX9 | c.1158C>A (p.Ser386Arg)
| gnomAD v4 |
17 | g.72124015C= | CA2273926601 | SOX9 | c.1158C= (p.Ser386=)
| |
17 | g.72124015C>G | CA400867827 | SOX9 | c.1158C>G (p.Ser386Arg)
| dbSNP |
17 | g.72124015C>T | CA501432853 | SOX9 | c.1158C>T (p.Ser386=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124016A>C | CA400867828 | SOX9 | c.1159A>C (p.Ser387Arg)
| |
17 | g.72124016A>G | CA400867829 | SOX9 | c.1159A>G (p.Ser387Gly)
| dbSNP |
17 | g.72124016A>T | CA400867830 | SOX9 | c.1159A>T (p.Ser387Cys)
| dbSNP |
17 | g.72124017G>A | CA400867831 | SOX9 | c.1160G>A (p.Ser387Asn)
| dbSNP gnomAD v4 |
17 | g.72124017G>C | CA400867832 | SOX9 | c.1160G>C (p.Ser387Thr)
| dbSNP |
17 | g.72124017G>T | CA400867833 | SOX9 | c.1160G>T (p.Ser387Ile)
| |
17 | g.72124018C>A | CA400867834 | SOX9 | c.1161C>A (p.Ser387Arg)
| dbSNP gnomAD v4 |
17 | g.72124018C= | CA2273926602 | SOX9 | c.1161C= (p.Ser387=)
| |
17 | g.72124018C>G | CA400867835 | SOX9 | c.1161C>G (p.Ser387Arg)
| dbSNP |
17 | g.72124018C>T | CA501432854 | SOX9 | c.1161C>T (p.Ser387=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124019G>A | CA8739113 | SOX9 | c.1162G>A (p.Glu388Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124019G>C | CA400867837 | SOX9 | c.1162G>C (p.Glu388Gln)
| dbSNP |
17 | g.72124019G= | CA2273926603 | SOX9 | c.1162G= (p.Glu388=)
| |
17 | g.72124019G>T | CA400867836 | SOX9 | c.1162G>T (p.Glu388Ter)
| |
17 | g.72124020A>C | CA400867838 | SOX9 | c.1163A>C (p.Glu388Ala)
| dbSNP |
17 | g.72124020A>G | CA400867840 | SOX9 | c.1163A>G (p.Glu388Gly)
| dbSNP |
17 | g.72124020A>T | CA400867839 | SOX9 | c.1163A>T (p.Glu388Val)
| dbSNP |
17 | g.72124021G>A | CA501432855 | SOX9 | c.1164G>A (p.Glu388=)
| dbSNP |
17 | g.72124021G>C | CA400867841 | SOX9 | c.1164G>C (p.Glu388Asp)
| dbSNP gnomAD v4 |
17 | g.72124021G= | CA2273926604 | SOX9 | c.1164G= (p.Glu388=)
| |
17 | g.72124021G>T | CA400867842 | SOX9 | c.1164G>T (p.Glu388Asp)
| gnomAD v4 |
17 | g.72124022C>A | CA8739114 | SOX9 | c.1165C>A (p.Pro389Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124022C= | CA2273926605 | SOX9 | c.1165C= (p.Pro389=)
| |
17 | g.72124022C>G | CA400867843 | SOX9 | c.1165C>G (p.Pro389Ala)
| dbSNP |
17 | g.72124022C>T | CA400867844 | SOX9 | c.1165C>T (p.Pro389Ser)
| dbSNP gnomAD v4 |
17 | g.72124023C>A | CA400867845 | SOX9 | c.1166C>A (p.Pro389Gln)
| gnomAD v4 |
17 | g.72124023C>G | CA400867846 | SOX9 | c.1166C>G (p.Pro389Arg)
| dbSNP gnomAD v4 |
17 | g.72124023C>T | CA400867847 | SOX9 | c.1166C>T (p.Pro389Leu)
| gnomAD v4 |
17 | g.72124024G>A | CA8739115 | SOX9 | c.1167G>A (p.Pro389=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124024G>C | CA501432856 | SOX9 | c.1167G>C (p.Pro389=)
| dbSNP |
17 | g.72124024G= | CA2273926606 | SOX9 | c.1167G= (p.Pro389=)
| |
17 | g.72124024G>T | CA501432857 | SOX9 | c.1167G>T (p.Pro389=)
| dbSNP |
17 | g.72124025G>A | CA8739116 | SOX9 | c.1168G>A (p.Gly390Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124025G>C | CA400867848 | SOX9 | c.1168G>C (p.Gly390Arg)
| dbSNP |
17 | g.72124025G= | CA2273926607 | SOX9 | c.1168G= (p.Gly390=)
| |
17 | g.72124025G>T | CA400867849 | SOX9 | c.1168G>T (p.Gly390Cys)
| dbSNP |
17 | g.72124026G>A | CA400867851 | SOX9 | c.1169G>A (p.Gly390Asp)
| gnomAD v4 |
17 | g.72124026G>C | CA8739117 | SOX9 | c.1169G>C (p.Gly390Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124026G= | CA2273926608 | SOX9 | c.1169G= (p.Gly390=)
| |
17 | g.72124026G>T | CA400867850 | SOX9 | c.1169G>T (p.Gly390Val)
| gnomAD v4 |
17 | g.72124027C>A | CA8739118 | SOX9 | c.1170C>A (p.Gly390=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124027C= | CA2273926609 | SOX9 | c.1170C= (p.Gly390=)
| |
17 | g.72124027C>G | CA501432858 | SOX9 | c.1170C>G (p.Gly390=)
| dbSNP |
17 | g.72124027C>T | CA501432859 | SOX9 | c.1170C>T (p.Gly390=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124028del | CA2734006131 | SOX9 | c.1171del (p.Gln391SerfsTer12)
| dbSNP |
17 | g.72124028C>A | CA400867852 | SOX9 | c.1171C>A (p.Gln391Lys)
| dbSNP gnomAD v4 |
17 | g.72124028C>G | CA400867853 | SOX9 | c.1171C>G (p.Gln391Glu)
| dbSNP |
17 | g.72124028C>T | CA400867854 | SOX9 | c.1171C>T (p.Gln391Ter)
| dbSNP |
17 | g.72124029A= | CA2273926610 | SOX9 | c.1172A= (p.Gln391=)
| |
17 | g.72124029A>C | CA400867855 | SOX9 | c.1172A>C (p.Gln391Pro)
| dbSNP gnomAD v4 |
17 | g.72124029A>G | CA400867856 | SOX9 | c.1172A>G (p.Gln391Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124029A>T | CA400867857 | SOX9 | c.1172A>T (p.Gln391Leu)
| dbSNP |
17 | g.72124030G>A | CA501432860 | SOX9 | c.1173G>A (p.Gln391=)
| dbSNP gnomAD v4 |
17 | g.72124030G>C | CA400867858 | SOX9 | c.1173G>C (p.Gln391His)
| dbSNP |
17 | g.72124030G>T | CA400867859 | SOX9 | c.1173G>T (p.Gln391His)
| |
17 | g.72124031T>A | CA400867860 | SOX9 | c.1174T>A (p.Ser392Thr)
| |
17 | g.72124031T>C | CA400867861 | SOX9 | c.1174T>C (p.Ser392Pro)
| gnomAD v4 |
17 | g.72124031T>G | CA400867862 | SOX9 | c.1174T>G (p.Ser392Ala)
| |
17 | g.72124032C>A | CA400867864 | SOX9 | c.1175C>A (p.Ser392Tyr)
| dbSNP |
17 | g.72124032C= | CA2273926611 | SOX9 | c.1175C= (p.Ser392=)
| |
17 | g.72124032C>G | CA400867865 | SOX9 | c.1175C>G (p.Ser392Cys)
| dbSNP |
17 | g.72124032C>T | CA400867863 | SOX9 | c.1175C>T (p.Ser392Phe)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124033C>A | CA501432861 | SOX9 | c.1176C>A (p.Ser392=)
| dbSNP |
17 | g.72124033C= | CA2273926612 | SOX9 | c.1176C= (p.Ser392=)
| |
17 | g.72124033C>G | CA501432862 | SOX9 | c.1176C>G (p.Ser392=)
| dbSNP |
17 | g.72124033C>T | CA8739119 | SOX9 | c.1176C>T (p.Ser392=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.72124034C>A | CA400867866 | SOX9 | c.1177C>A (p.Gln393Lys)
| dbSNP |
17 | g.72124034C= | CA2273926613 | SOX9 | c.1177C= (p.Gln393=)
| |
17 | g.72124034C>G | CA400867867 | SOX9 | c.1177C>G (p.Gln393Glu)
| |
17 | g.72124034C>T | CA400867868 | SOX9 | c.1177C>T (p.Gln393Ter)
| ClinVar dbSNP COSMIC |
17 | g.72124035A= | CA2273926614 | SOX9 | c.1178A= (p.Gln393=)
| |
17 | g.72124035A>C | CA400867869 | SOX9 | c.1178A>C (p.Gln393Pro)
| dbSNP |
17 | g.72124035A>G | CA293783901 | SOX9 | c.1178A>G (p.Gln393Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124035A>T | CA400867870 | SOX9 | c.1178A>T (p.Gln393Leu)
| dbSNP |
17 | g.72124035_72124041delinsAGCGAAC | CA2273926615 | SOX9 | c.1178_1184delinsAGCGAAC (p.Gln393=)
| |
17 | g.72124036G>A | CA501432863 | SOX9 | c.1179G>A (p.Gln393=)
| dbSNP |
17 | g.72124036G>C | CA400867871 | SOX9 | c.1179G>C (p.Gln393His)
| dbSNP |
17 | g.72124036G>T | CA400867872 | SOX9 | c.1179G>T (p.Gln393His)
| dbSNP |
17 | g.72124038_72124043del | CA627589917 | SOX9 | c.1181_1186del (p.Arg394_Thr395del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124037C>A | CA501432864 | SOX9 | c.1180C>A (p.Arg394=)
| dbSNP gnomAD v2 |
17 | g.72124037C= | CA2273926616 | SOX9 | c.1180C= (p.Arg394=)
| |
17 | g.72124037C>G | CA400867873 | SOX9 | c.1180C>G (p.Arg394Gly)
| dbSNP |
17 | g.72124037C>T | CA16043058 | SOX9 | c.1180C>T (p.Arg394Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.72124037dup | CA645598832 | SOX9 | c.1180dup (p.Arg394ProfsTer?)
| COSMIC |
17 | g.72124038G>A | CA400867875 | SOX9 | c.1181G>A (p.Arg394Gln)
| dbSNP gnomAD v4 COSMIC |
17 | g.72124038G>C | CA400867876 | SOX9 | c.1181G>C (p.Arg394Pro)
| dbSNP COSMIC |
17 | g.72124038G>T | CA400867874 | SOX9 | c.1181G>T (p.Arg394Leu)
| dbSNP COSMIC |
17 | g.72124039A>C | CA501432865 | SOX9 | c.1182A>C (p.Arg394=)
| dbSNP |
17 | g.72124039A>G | CA501432866 | SOX9 | c.1182A>G (p.Arg394=)
| dbSNP |
17 | g.72124039A>T | CA501432867 | SOX9 | c.1182A>T (p.Arg394=)
| dbSNP |
17 | g.72124040A>C | CA400867877 | SOX9 | c.1183A>C (p.Thr395Pro)
| dbSNP |
17 | g.72124040A>G | CA400867878 | SOX9 | c.1183A>G (p.Thr395Ala)
| COSMIC |
17 | g.72124040A>T | CA400867879 | SOX9 | c.1183A>T (p.Thr395Ser)
| dbSNP |
17 | g.72124041C>A | CA400867880 | SOX9 | c.1184C>A (p.Thr395Lys)
| dbSNP |
17 | g.72124041C= | CA2273926617 | SOX9 | c.1184C= (p.Thr395=)
| |
17 | g.72124041C>G | CA400867881 | SOX9 | c.1184C>G (p.Thr395Arg)
| dbSNP gnomAD v4 |
17 | g.72124041C>T | CA400867882 | SOX9 | c.1184C>T (p.Thr395Met)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124042_72124043dup | CA645598833 | SOX9 | c.1185_1186dup (p.His396ArgfsTer8)
| COSMIC |
17 | g.72124042G>A | CA8739120 | SOX9 | c.1185G>A (p.Thr395=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124042G>C | CA501432868 | SOX9 | c.1185G>C (p.Thr395=)
| dbSNP |
17 | g.72124042G= | CA2273926618 | SOX9 | c.1185G= (p.Thr395=)
| |
17 | g.72124042G>T | CA8739121 | SOX9 | c.1185G>T (p.Thr395=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124043C>A | CA400867883 | SOX9 | c.1186C>A (p.His396Asn)
| |
17 | g.72124043C>G | CA400867884 | SOX9 | c.1186C>G (p.His396Asp)
| |
17 | g.72124043C>T | CA400867885 | SOX9 | c.1186C>T (p.His396Tyr)
| dbSNP |
17 | g.72124044A>C | CA400867886 | SOX9 | c.1187A>C (p.His396Pro)
| dbSNP |
17 | g.72124044A>G | CA400867887 | SOX9 | c.1187A>G (p.His396Arg)
| dbSNP |
17 | g.72124044A>T | CA400867888 | SOX9 | c.1187A>T (p.His396Leu)
| dbSNP |
17 | g.72124045C>A | CA400867889 | SOX9 | c.1188C>A (p.His396Gln)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124045C= | CA2273926619 | SOX9 | c.1188C= (p.His396=)
| |
17 | g.72124045C>G | CA400867890 | SOX9 | c.1188C>G (p.His396Gln)
| dbSNP |
17 | g.72124045C>T | CA501432869 | SOX9 | c.1188C>T (p.His396=)
| dbSNP |
17 | g.72124046A>C | CA400867891 | SOX9 | c.1189A>C (p.Ile397Leu)
| dbSNP |
17 | g.72124046A>G | CA400867893 | SOX9 | c.1189A>G (p.Ile397Val)
| |
17 | g.72124046A>T | CA400867892 | SOX9 | c.1189A>T (p.Ile397Phe)
| dbSNP |
17 | g.72124047T>A | CA400867894 | SOX9 | c.1190T>A (p.Ile397Asn)
| dbSNP |
17 | g.72124047T>C | CA400867895 | SOX9 | c.1190T>C (p.Ile397Thr)
| dbSNP |
17 | g.72124047T>G | CA400867896 | SOX9 | c.1190T>G (p.Ile397Ser)
| dbSNP |
17 | g.72124048C>A | CA501432870 | SOX9 | c.1191C>A (p.Ile397=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.72124048C= | CA2273926620 | SOX9 | c.1191C= (p.Ile397=)
| |
17 | g.72124048C>G | CA400867897 | SOX9 | c.1191C>G (p.Ile397Met)
| dbSNP |
17 | g.72124048C>T | CA501432871 | SOX9 | c.1191C>T (p.Ile397=)
| dbSNP gnomAD v4 |
17 | g.72124049A>C | CA400867898 | SOX9 | c.1192A>C (p.Lys398Gln)
| |
17 | g.72124049A>G | CA400867899 | SOX9 | c.1192A>G (p.Lys398Glu)
| dbSNP |
17 | g.72124049A>T | CA400867900 | SOX9 | c.1192A>T (p.Lys398Ter)
| dbSNP |
17 | g.72124050A= | CA2273926621 | SOX9 | c.1193A= (p.Lys398=)
| |
17 | g.72124050A>C | CA400867901 | SOX9 | c.1193A>C (p.Lys398Thr)
| |
17 | g.72124050A>G | CA16607835 | SOX9 | c.1193A>G (p.Lys398Arg)
| ClinVar dbSNP |
17 | g.72124050A>T | CA400867902 | SOX9 | c.1193A>T (p.Lys398Met)
| dbSNP |
17 | g.72124050_72124054delinsAGACG | CA2273926622 | SOX9 | c.1193_1197delinsAGACG (p.Lys398=)
| |
17 | g.72124051G>A | CA501432872 | SOX9 | c.1194G>A (p.Lys398=)
| dbSNP |
17 | g.72124051G>C | CA400867903 | SOX9 | c.1194G>C (p.Lys398Asn)
| dbSNP gnomAD v4 |
17 | g.72124051G>T | CA400867904 | SOX9 | c.1194G>T (p.Lys398Asn)
| |
17 | g.72124053_72124056del | CA1139665864 | SOX9 | c.1196_1199del (p.Thr399SerfsTer3)
| ClinVar dbSNP |
17 | g.72124052A>C | CA400867905 | SOX9 | c.1195A>C (p.Thr399Pro)
| dbSNP |
17 | g.72124052A>G | CA400867907 | SOX9 | c.1195A>G (p.Thr399Ala)
| dbSNP gnomAD v4 |
17 | g.72124052A>T | CA400867906 | SOX9 | c.1195A>T (p.Thr399Ser)
| dbSNP |
17 | g.72124053C>A | CA400867908 | SOX9 | c.1196C>A (p.Thr399Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124053C= | CA2273926623 | SOX9 | c.1196C= (p.Thr399=)
| |
17 | g.72124053C>G | CA400867909 | SOX9 | c.1196C>G (p.Thr399Arg)
| dbSNP |
17 | g.72124053C>T | CA400867910 | SOX9 | c.1196C>T (p.Thr399Met)
| ClinVar dbSNP gnomAD v4 |
17 | g.72124054G>A | CA501432873 | SOX9 | c.1197G>A (p.Thr399=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124054G>C | CA8739122 | SOX9 | c.1197G>C (p.Thr399=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124054G= | CA2273926624 | SOX9 | c.1197G= (p.Thr399=)
| |
17 | g.72124054G>T | CA501432874 | SOX9 | c.1197G>T (p.Thr399=)
| dbSNP gnomAD v4 |
17 | g.72124054_72124055del | CA2639603210 | SOX9 | c.1197_1198del (p.Glu400AlafsTer?)
| gnomAD v4 |
17 | g.72124055dup | CA501432875 | SOX9 | c.1198dup (p.Glu400GlyfsTer?)
| COSMIC |
17 | g.72124055G>A | CA400867911 | SOX9 | c.1198G>A (p.Glu400Lys)
| dbSNP gnomAD v4 |
17 | g.72124055G>C | CA400867912 | SOX9 | c.1198G>C (p.Glu400Gln)
| dbSNP |
17 | g.72124055G>T | CA400867913 | SOX9 | c.1198G>T (p.Glu400Ter)
| dbSNP |
17 | g.72124056A>C | CA400867914 | SOX9 | c.1199A>C (p.Glu400Ala)
| |
17 | g.72124056A>G | CA400867915 | SOX9 | c.1199A>G (p.Glu400Gly)
| dbSNP |
17 | g.72124056A>T | CA400867916 | SOX9 | c.1199A>T (p.Glu400Val)
| dbSNP |
17 | g.72124057G>A | CA501432876 | SOX9 | c.1200G>A (p.Glu400=)
| dbSNP |
17 | g.72124057G>C | CA400867918 | SOX9 | c.1200G>C (p.Glu400Asp)
| dbSNP |
17 | g.72124057G>T | CA400867917 | SOX9 | c.1200G>T (p.Glu400Asp)
| |
17 | g.72124057_72124058dup | CA645598834 | SOX9 | c.1200_1201dup (p.Gln401ArgfsTer3)
| COSMIC |
17 | g.72124058C>A | CA400867919 | SOX9 | c.1201C>A (p.Gln401Lys)
| dbSNP |
17 | g.72124058C>G | CA400867920 | SOX9 | c.1201C>G (p.Gln401Glu)
| dbSNP gnomAD v4 |
17 | g.72124058C>T | CA400867921 | SOX9 | c.1201C>T (p.Gln401Ter)
| dbSNP |
17 | g.72124060_72124074del | CA2639603211 | SOX9 | c.1203_1217del (p.Gln401_Ser405del)
| gnomAD v4 |
17 | g.72124059A>C | CA400867922 | SOX9 | c.1202A>C (p.Gln401Pro)
| |
17 | g.72124059A>G | CA400867923 | SOX9 | c.1202A>G (p.Gln401Arg)
| dbSNP gnomAD v4 |
17 | g.72124059A>T | CA400867924 | SOX9 | c.1202A>T (p.Gln401Leu)
| dbSNP |
17 | g.72124060G>A | CA501432877 | SOX9 | c.1203G>A (p.Gln401=)
| dbSNP gnomAD v4 |
17 | g.72124060G>C | CA400867926 | SOX9 | c.1203G>C (p.Gln401His)
| dbSNP |
17 | g.72124060G>T | CA400867925 | SOX9 | c.1203G>T (p.Gln401His)
| dbSNP |
17 | g.72124061C>A | CA400867927 | SOX9 | c.1204C>A (p.Leu402Met)
| dbSNP |
17 | g.72124061C= | CA2273926625 | SOX9 | c.1204C= (p.Leu402=)
| |
17 | g.72124061C>G | CA400867928 | SOX9 | c.1204C>G (p.Leu402Val)
| dbSNP |
17 | g.72124061C>T | CA293783941 | SOX9 | c.1204C>T (p.Leu402=)
| dbSNP |
17 | g.72124062T>A | CA400867929 | SOX9 | c.1205T>A (p.Leu402Gln)
| dbSNP |
17 | g.72124062T>C | CA400867930 | SOX9 | c.1205T>C (p.Leu402Pro)
| dbSNP |
17 | g.72124062T>G | CA400867931 | SOX9 | c.1205T>G (p.Leu402Arg)
| |
17 | g.72124063G>A | CA501432878 | SOX9 | c.1206G>A (p.Leu402=)
| |
17 | g.72124063G>C | CA501432879 | SOX9 | c.1206G>C (p.Leu402=)
| |
17 | g.72124063G>T | CA501432880 | SOX9 | c.1206G>T (p.Leu402=)
| dbSNP |
17 | g.72124067_72124085del | CA645598835 | SOX9 | c.1210_1228del (p.Pro404SerfsTer?)
| COSMIC |
17 | g.72124064A>C | CA400867932 | SOX9 | c.1207A>C (p.Ser403Arg)
| dbSNP |
17 | g.72124064A>G | CA400867934 | SOX9 | c.1207A>G (p.Ser403Gly)
| dbSNP |
17 | g.72124064A>T | CA400867933 | SOX9 | c.1207A>T (p.Ser403Cys)
| dbSNP |
17 | g.72124065G>A | CA400867935 | SOX9 | c.1208G>A (p.Ser403Asn)
| dbSNP gnomAD v4 |
17 | g.72124065G>C | CA400867936 | SOX9 | c.1208G>C (p.Ser403Thr)
| dbSNP |
17 | g.72124065G>T | CA400867937 | SOX9 | c.1208G>T (p.Ser403Ile)
| |
17 | g.72124085_72124086insTTTGCCCCAGCCACTACAGCGAGC | CA2639603212 | SOX9 | c.1228_1229insTTTGCCCCAGCCACTACAGCGAGC (p.Glu409_Gln410insLeuCysProSerHisTyrSerGlu)
| gnomAD v4 |
17 | g.72124066C>A | CA400867938 | SOX9 | c.1209C>A (p.Ser403Arg)
| dbSNP |
17 | g.72124066C= | CA2273926626 | SOX9 | c.1209C= (p.Ser403=)
| |
17 | g.72124066C>G | CA400867939 | SOX9 | c.1209C>G (p.Ser403Arg)
| dbSNP |
17 | g.72124066C>T | CA501432881 | SOX9 | c.1209C>T (p.Ser403=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124069dup | CA2810344967 | SOX9 | c.1212dup (p.Ser405GlnfsTer?)
| |
17 | g.72124069del | CA2576374518 | SOX9 | c.1212del (p.Ser405AlafsTer?)
| |
17 | g.72124067C>A | CA400867940 | SOX9 | c.1210C>A (p.Pro404Thr)
| dbSNP |
17 | g.72124067C>G | CA400867941 | SOX9 | c.1210C>G (p.Pro404Ala)
| dbSNP |
17 | g.72124067C>T | CA400867942 | SOX9 | c.1210C>T (p.Pro404Ser)
| dbSNP |
17 | g.72124068C>A | CA400867943 | SOX9 | c.1211C>A (p.Pro404His)
| dbSNP |
17 | g.72124068C>G | CA400867944 | SOX9 | c.1211C>G (p.Pro404Arg)
| dbSNP |
17 | g.72124068C>T | CA400867945 | SOX9 | c.1211C>T (p.Pro404Leu)
| dbSNP |
17 | g.72124069C>A | CA501432882 | SOX9 | c.1212C>A (p.Pro404=)
| |
17 | g.72124069C= | CA2273926627 | SOX9 | c.1212C= (p.Pro404=)
| |
17 | g.72124069C>G | CA501432883 | SOX9 | c.1212C>G (p.Pro404=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124069C>T | CA8739123 | SOX9 | c.1212C>T (p.Pro404=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124073_72124088dup | CA2695226905 | SOX9 | c.1216_1231dup (p.Gln411ProfsTer?)
| |
17 | g.72124070A>C | CA400867947 | SOX9 | c.1213A>C (p.Ser405Arg)
| dbSNP |
17 | g.72124070A>G | CA400867948 | SOX9 | c.1213A>G (p.Ser405Gly)
| dbSNP |
17 | g.72124070A>T | CA400867946 | SOX9 | c.1213A>T (p.Ser405Cys)
| dbSNP |
17 | g.72124071G>A | CA400867951 | SOX9 | c.1214G>A (p.Ser405Asn)
| dbSNP gnomAD v4 |
17 | g.72124071G>C | CA400867949 | SOX9 | c.1214G>C (p.Ser405Thr)
| dbSNP |
17 | g.72124071G>T | CA400867950 | SOX9 | c.1214G>T (p.Ser405Ile)
| dbSNP gnomAD v4 |
17 | g.72124072C>A | CA400867952 | SOX9 | c.1215C>A (p.Ser405Arg)
| dbSNP |
17 | g.72124072C>G | CA400867953 | SOX9 | c.1215C>G (p.Ser405Arg)
| dbSNP |
17 | g.72124072C>T | CA501432884 | SOX9 | c.1215C>T (p.Ser405=)
| dbSNP |
17 | g.72124073C>A | CA400867954 | SOX9 | c.1216C>A (p.His406Asn)
| dbSNP |
17 | g.72124073C= | CA2273926628 | SOX9 | c.1216C= (p.His406=)
| |
17 | g.72124073C>G | CA400867955 | SOX9 | c.1216C>G (p.His406Asp)
| dbSNP |
17 | g.72124073C>T | CA400867956 | SOX9 | c.1216C>T (p.His406Tyr)
| dbSNP |
17 | g.72124074A= | CA2273926629 | SOX9 | c.1217A= (p.His406=)
| |
17 | g.72124074A>C | CA400867959 | SOX9 | c.1217A>C (p.His406Pro)
| dbSNP |
17 | g.72124074A>G | CA400867957 | SOX9 | c.1217A>G (p.His406Arg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124074A>T | CA400867958 | SOX9 | c.1217A>T (p.His406Leu)
| dbSNP |
17 | g.72124075C>A | CA8739124 | SOX9 | c.1218C>A (p.His406Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124075C= | CA2273926630 | SOX9 | c.1218C= (p.His406=)
| |
17 | g.72124075C>G | CA400867960 | SOX9 | c.1218C>G (p.His406Gln)
| dbSNP |
17 | g.72124075C>T | CA501432885 | SOX9 | c.1218C>T (p.His406=)
| |
17 | g.72124076T>A | CA400867961 | SOX9 | c.1219T>A (p.Tyr407Asn)
| dbSNP |
17 | g.72124076T>C | CA400867962 | SOX9 | c.1219T>C (p.Tyr407His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124076T>G | CA400867963 | SOX9 | c.1219T>G (p.Tyr407Asp)
| |
17 | g.72124076T= | CA2273926631 | SOX9 | c.1219T= (p.Tyr407=)
| |
17 | g.72124077A>C | CA400867964 | SOX9 | c.1220A>C (p.Tyr407Ser)
| dbSNP |
17 | g.72124077A>G | CA400867966 | SOX9 | c.1220A>G (p.Tyr407Cys)
| dbSNP |
17 | g.72124077A>T | CA400867965 | SOX9 | c.1220A>T (p.Tyr407Phe)
| dbSNP |
17 | g.72124078C>A | CA400867967 | SOX9 | c.1221C>A (p.Tyr407Ter)
| |
17 | g.72124078C= | CA2273926632 | SOX9 | c.1221C= (p.Tyr407=)
| |
17 | g.72124078C>G | CA400867968 | SOX9 | c.1221C>G (p.Tyr407Ter)
| |
17 | g.72124078C>T | CA8739125 | SOX9 | c.1221C>T (p.Tyr407=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124079A>C | CA400867969 | SOX9 | c.1222A>C (p.Ser408Arg)
| dbSNP |
17 | g.72124079A>G | CA400867970 | SOX9 | c.1222A>G (p.Ser408Gly)
| dbSNP |
17 | g.72124079A>T | CA400867971 | SOX9 | c.1222A>T (p.Ser408Cys)
| dbSNP |
17 | g.72124080G>A | CA400867972 | SOX9 | c.1223G>A (p.Ser408Asn)
| dbSNP |
17 | g.72124080G>C | CA400867973 | SOX9 | c.1223G>C (p.Ser408Thr)
| dbSNP |
17 | g.72124080G= | CA2273926633 | SOX9 | c.1223G= (p.Ser408=)
| |
17 | g.72124080G>T | CA293783950 | SOX9 | c.1223G>T (p.Ser408Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124081C>A | CA400867974 | SOX9 | c.1224C>A (p.Ser408Arg)
| |
17 | g.72124081C= | CA2273926634 | SOX9 | c.1224C= (p.Ser408=)
| |
17 | g.72124081C>G | CA400867975 | SOX9 | c.1224C>G (p.Ser408Arg)
| gnomAD v4 |
17 | g.72124081C>T | CA8739126 | SOX9 | c.1224C>T (p.Ser408=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124082del | CA645598836 | SOX9 | c.1225del (p.Glu409SerfsTer?)
| COSMIC |
17 | g.72124082G>A | CA400867976 | SOX9 | c.1225G>A (p.Glu409Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124082G>C | CA400867978 | SOX9 | c.1225G>C (p.Glu409Gln)
| |
17 | g.72124082G= | CA2273926635 | SOX9 | c.1225G= (p.Glu409=)
| |
17 | g.72124082G>T | CA400867977 | SOX9 | c.1225G>T (p.Glu409Ter)
| COSMIC |
17 | g.72124082_72124085delinsGAGC | CA2273926636 | SOX9 | c.1225_1228delinsGAGC (p.Glu409=)
| |
17 | g.72124083A>C | CA400867979 | SOX9 | c.1226A>C (p.Glu409Ala)
| dbSNP |
17 | g.72124083A>G | CA400867980 | SOX9 | c.1226A>G (p.Glu409Gly)
| dbSNP gnomAD v4 |
17 | g.72124083A>T | CA400867981 | SOX9 | c.1226A>T (p.Glu409Val)
| dbSNP |
17 | g.72124093_72124095dup | CA986080903 | SOX9 | c.1236_1238dup (p.Gln412_His413insGln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124093_72124095del | CA501432886 | SOX9 | c.1236_1238del (p.Gln412del)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.72124084G>A | CA501432887 | SOX9 | c.1227G>A (p.Glu409=)
| dbSNP gnomAD v4 |
17 | g.72124084G>C | CA400867982 | SOX9 | c.1227G>C (p.Glu409Asp)
| dbSNP |
17 | g.72124084G>T | CA400867983 | SOX9 | c.1227G>T (p.Glu409Asp)
| |
17 | g.72124085C>A | CA400867984 | SOX9 | c.1228C>A (p.Gln410Lys)
| dbSNP |
17 | g.72124085C>G | CA400867985 | SOX9 | c.1228C>G (p.Gln410Glu)
| dbSNP |
17 | g.72124085C>T | CA400867986 | SOX9 | c.1228C>T (p.Gln410Ter)
| dbSNP COSMIC |
17 | g.72124086A= | CA2273926637 | SOX9 | c.1229A= (p.Gln410=)
| |
17 | g.72124086A>C | CA400867987 | SOX9 | c.1229A>C (p.Gln410Pro)
| gnomAD v4 |
17 | g.72124086A>G | CA400867988 | SOX9 | c.1229A>G (p.Gln410Arg)
| |
17 | g.72124086A>T | CA400867989 | SOX9 | c.1229A>T (p.Gln410Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124087G>A | CA501432888 | SOX9 | c.1230G>A (p.Gln410=)
| dbSNP gnomAD v4 |
17 | g.72124087G>C | CA400867990 | SOX9 | c.1230G>C (p.Gln410His)
| dbSNP |
17 | g.72124087G= | CA2273926638 | SOX9 | c.1230G= (p.Gln410=)
| |
17 | g.72124087G>T | CA400867991 | SOX9 | c.1230G>T (p.Gln410His)
| dbSNP gnomAD v2 gnomAD v4 |