17 | g.72124073_72124088dup | CA2695226905 | SOX9 | c.1216_1231dup (p.Gln411ProfsTer?)
| |
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.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 |
17 | g.72124088C>A | CA400867992 | SOX9 | c.1231C>A (p.Gln411Lys)
| dbSNP |
17 | g.72124088C>G | CA400867994 | SOX9 | c.1231C>G (p.Gln411Glu)
| dbSNP |
17 | g.72124088C>T | CA400867993 | SOX9 | c.1231C>T (p.Gln411Ter)
| dbSNP COSMIC |
17 | g.72124089A>C | CA400867995 | SOX9 | c.1232A>C (p.Gln411Pro)
| dbSNP |
17 | g.72124089A>G | CA400867996 | SOX9 | c.1232A>G (p.Gln411Arg)
| dbSNP gnomAD v4 |
17 | g.72124089A>T | CA400867997 | SOX9 | c.1232A>T (p.Gln411Leu)
| dbSNP |
17 | g.72124090G>A | CA501432889 | SOX9 | c.1233G>A (p.Gln411=)
| dbSNP |
17 | g.72124090G>C | CA400867998 | SOX9 | c.1233G>C (p.Gln411His)
| |
17 | g.72124090G>T | CA400867999 | SOX9 | c.1233G>T (p.Gln411His)
| |
17 | g.72124091C>A | CA400868000 | SOX9 | c.1234C>A (p.Gln412Lys)
| dbSNP |
17 | g.72124091C= | CA2273926639 | SOX9 | c.1234C= (p.Gln412=)
| |
17 | g.72124091C>G | CA400868001 | SOX9 | c.1234C>G (p.Gln412Glu)
| dbSNP gnomAD v4 |
17 | g.72124091C>T | CA400868002 | SOX9 | c.1234C>T (p.Gln412Ter)
| ClinVar dbSNP COSMIC |
17 | g.72124092A>C | CA400868003 | SOX9 | c.1235A>C (p.Gln412Pro)
| |
17 | g.72124092A>G | CA400868004 | SOX9 | c.1235A>G (p.Gln412Arg)
| dbSNP |
17 | g.72124092A>T | CA400868005 | SOX9 | c.1235A>T (p.Gln412Leu)
| dbSNP |
17 | g.72124093G>A | CA501432890 | SOX9 | c.1236G>A (p.Gln412=)
| dbSNP gnomAD v4 |
17 | g.72124093G>C | CA400868007 | SOX9 | c.1236G>C (p.Gln412His)
| dbSNP |
17 | g.72124093G>T | CA400868006 | SOX9 | c.1236G>T (p.Gln412His)
| |
17 | g.72124094C>A | CA400868008 | SOX9 | c.1237C>A (p.His413Asn)
| dbSNP |
17 | g.72124094C>G | CA400868009 | SOX9 | c.1237C>G (p.His413Asp)
| dbSNP |
17 | g.72124094C>T | CA400868010 | SOX9 | c.1237C>T (p.His413Tyr)
| dbSNP |
17 | g.72124095A= | CA2273926640 | SOX9 | c.1238A= (p.His413=)
| |
17 | g.72124095A>C | CA400868011 | SOX9 | c.1238A>C (p.His413Pro)
| dbSNP |
17 | g.72124095A>G | CA400868012 | SOX9 | c.1238A>G (p.His413Arg)
| gnomAD v4 |
17 | g.72124095A>T | CA400868013 | SOX9 | c.1238A>T (p.His413Leu)
| dbSNP |
17 | g.72124096C>A | CA400868014 | SOX9 | c.1239C>A (p.His413Gln)
| dbSNP gnomAD v4 |
17 | g.72124096C>G | CA400868015 | SOX9 | c.1239C>G (p.His413Gln)
| dbSNP |
17 | g.72124096C>T | CA501432891 | SOX9 | c.1239C>T (p.His413=)
| dbSNP |
17 | g.72124097T>A | CA400868016 | SOX9 | c.1240T>A (p.Ser414Thr)
| dbSNP |
17 | g.72124097T>C | CA400868017 | SOX9 | c.1240T>C (p.Ser414Pro)
| dbSNP |
17 | g.72124097T>G | CA400868018 | SOX9 | c.1240T>G (p.Ser414Ala)
| |
17 | g.72124098C>A | CA400868019 | SOX9 | c.1241C>A (p.Ser414Ter)
| dbSNP COSMIC |
17 | g.72124098C= | CA2273926641 | SOX9 | c.1241C= (p.Ser414=)
| |
17 | g.72124098C>G | CA400868020 | SOX9 | c.1241C>G (p.Ser414Trp)
| dbSNP |
17 | g.72124098C>T | CA8739127 | SOX9 | c.1241C>T (p.Ser414Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124099_72124100dup | CA645598837 | SOX9 | c.1242_1243dup (p.Pro415ArgfsTer?)
| COSMIC COSMIC |
17 | g.72124099del | CA645598838 | SOX9 | c.1242del (p.Gln416AsnfsTer?)
| COSMIC |
17 | g.72124099G>A | CA501432893 | SOX9 | c.1242G>A (p.Ser414=)
| ClinVar dbSNP gnomAD v4 |
17 | g.72124099G>C | CA501432894 | SOX9 | c.1242G>C (p.Ser414=)
| dbSNP gnomAD v4 |
17 | g.72124099G= | CA2273926642 | SOX9 | c.1242G= (p.Ser414=)
| |
17 | g.72124099G>T | CA501432892 | SOX9 | c.1242G>T (p.Ser414=)
| dbSNP gnomAD v4 |
17 | g.72124099_72124100insT | CA2695226906 | SOX9 | c.1242_1243insT (p.Pro415SerfsTer?)
| |
17 | g.72124100C>A | CA400868023 | SOX9 | c.1243C>A (p.Pro415Thr)
| dbSNP |
17 | g.72124100C>G | CA400868022 | SOX9 | c.1243C>G (p.Pro415Ala)
| dbSNP |
17 | g.72124100C>T | CA400868021 | SOX9 | c.1243C>T (p.Pro415Ser)
| dbSNP |
17 | g.72124103del | CA501432895 | SOX9 | c.1246del (p.Gln416AsnfsTer?)
| COSMIC |
17 | g.72124101C>A | CA400868024 | SOX9 | c.1244C>A (p.Pro415His)
| dbSNP |
17 | g.72124101C= | CA2273926643 | SOX9 | c.1244C= (p.Pro415=)
| |
17 | g.72124101C>G | CA400868025 | SOX9 | c.1244C>G (p.Pro415Arg)
| dbSNP |
17 | g.72124101C>T | CA400868026 | SOX9 | c.1244C>T (p.Pro415Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124102C>A | CA501432896 | SOX9 | c.1245C>A (p.Pro415=)
| |
17 | g.72124102C>G | CA501432897 | SOX9 | c.1245C>G (p.Pro415=)
| gnomAD v4 |
17 | g.72124102C>T | CA501432898 | SOX9 | c.1245C>T (p.Pro415=)
| dbSNP |
17 | g.72124103C>A | CA400868027 | SOX9 | c.1246C>A (p.Gln416Lys)
| dbSNP |
17 | g.72124103C= | CA2273926644 | SOX9 | c.1246C= (p.Gln416=)
| |
17 | g.72124103C>G | CA8739128 | SOX9 | c.1246C>G (p.Gln416Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124103C>T | CA400868028 | SOX9 | c.1246C>T (p.Gln416Ter)
| dbSNP |
17 | g.72124104A= | CA2273926645 | SOX9 | c.1247A= (p.Gln416=)
| |
17 | g.72124104A>C | CA400868029 | SOX9 | c.1247A>C (p.Gln416Pro)
| dbSNP |
17 | g.72124104A>G | CA400868030 | SOX9 | c.1247A>G (p.Gln416Arg)
| |
17 | g.72124104A>T | CA400868031 | SOX9 | c.1247A>T (p.Gln416Leu)
| |
17 | g.72124105A>C | CA400868032 | SOX9 | c.1248A>C (p.Gln416His)
| dbSNP |
17 | g.72124105A>G | CA501432899 | SOX9 | c.1248A>G (p.Gln416=)
| dbSNP gnomAD v4 |
17 | g.72124105A>T | CA400868033 | SOX9 | c.1248A>T (p.Gln416His)
| dbSNP |
17 | g.72124106C>A | CA400868034 | SOX9 | c.1249C>A (p.Gln417Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124106C= | CA2273926646 | SOX9 | c.1249C= (p.Gln417=)
| |
17 | g.72124106C>G | CA400868035 | SOX9 | c.1249C>G (p.Gln417Glu)
| dbSNP gnomAD v4 |
17 | g.72124106C>T | CA10606006 | SOX9 | c.1249C>T (p.Gln417Ter)
| ClinVar dbSNP COSMIC |
17 | g.72124107A= | CA2273926647 | SOX9 | c.1250A= (p.Gln417=)
| |
17 | g.72124107A>C | CA400868037 | SOX9 | c.1250A>C (p.Gln417Pro)
| |
17 | g.72124107A>G | CA400868038 | SOX9 | c.1250A>G (p.Gln417Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124107A>T | CA400868036 | SOX9 | c.1250A>T (p.Gln417Leu)
| dbSNP |
17 | g.72124108G>A | CA501432900 | SOX9 | c.1251G>A (p.Gln417=)
| dbSNP |
17 | g.72124108G>C | CA8739129 | SOX9 | c.1251G>C (p.Gln417His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124108G= | CA2273926648 | SOX9 | c.1251G= (p.Gln417=)
| |
17 | g.72124108G>T | CA400868039 | SOX9 | c.1251G>T (p.Gln417His)
| dbSNP |
17 | g.72124109A>C | CA400868040 | SOX9 | c.1252A>C (p.Ile418Leu)
| dbSNP |
17 | g.72124109A>G | CA400868041 | SOX9 | c.1252A>G (p.Ile418Val)
| dbSNP gnomAD v4 |
17 | g.72124109A>T | CA400868042 | SOX9 | c.1252A>T (p.Ile418Phe)
| dbSNP |
17 | g.72124110T>A | CA400868043 | SOX9 | c.1253T>A (p.Ile418Asn)
| dbSNP |
17 | g.72124110T>C | CA400868044 | SOX9 | c.1253T>C (p.Ile418Thr)
| dbSNP |
17 | g.72124110T>G | CA400868045 | SOX9 | c.1253T>G (p.Ile418Ser)
| dbSNP |
17 | g.72124111C>A | CA8739130 | SOX9 | c.1254C>A (p.Ile418=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124111C= | CA2273926649 | SOX9 | c.1254C= (p.Ile418=)
| |
17 | g.72124111C>G | CA8739131 | SOX9 | c.1254C>G (p.Ile418Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124111C>T | CA501432901 | SOX9 | c.1254C>T (p.Ile418=)
| dbSNP gnomAD v4 |
17 | g.72124112del | CA2697555122 | SOX9 | c.1255del (p.Ala419ProfsTer?)
| ClinVar |
17 | g.72124112G>A | CA400868046 | SOX9 | c.1255G>A (p.Ala419Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124112G>C | CA400868047 | SOX9 | c.1255G>C (p.Ala419Pro)
| dbSNP |
17 | g.72124112G= | CA2273926650 | SOX9 | c.1255G= (p.Ala419=)
| |
17 | g.72124112G>T | CA400868048 | SOX9 | c.1255G>T (p.Ala419Ser)
| dbSNP gnomAD v4 |
17 | g.72124113C>A | CA400868051 | SOX9 | c.1256C>A (p.Ala419Asp)
| dbSNP |
17 | g.72124113C= | CA2273926651 | SOX9 | c.1256C= (p.Ala419=)
| |
17 | g.72124113C>G | CA400868049 | SOX9 | c.1256C>G (p.Ala419Gly)
| dbSNP |
17 | g.72124113C>T | CA400868050 | SOX9 | c.1256C>T (p.Ala419Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124114C>A | CA501432902 | SOX9 | c.1257C>A (p.Ala419=)
| dbSNP |
17 | g.72124114C= | CA2273926652 | SOX9 | c.1257C= (p.Ala419=)
| |
17 | g.72124114C>G | CA501432903 | SOX9 | c.1257C>G (p.Ala419=)
| dbSNP |
17 | g.72124114C>T | CA293783999 | SOX9 | c.1257C>T (p.Ala419=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124115T>A | CA400868052 | SOX9 | c.1258T>A (p.Tyr420Asn)
| dbSNP |
17 | g.72124115T>C | CA400868053 | SOX9 | c.1258T>C (p.Tyr420His)
| dbSNP |
17 | g.72124115T>G | CA400868054 | SOX9 | c.1258T>G (p.Tyr420Asp)
| |
17 | g.72124116A>C | CA400868055 | SOX9 | c.1259A>C (p.Tyr420Ser)
| dbSNP |
17 | g.72124116A>G | CA400868056 | SOX9 | c.1259A>G (p.Tyr420Cys)
| dbSNP gnomAD v4 |
17 | g.72124116A>T | CA400868057 | SOX9 | c.1259A>T (p.Tyr420Phe)
| dbSNP |
17 | g.72124116_72124133delinsACAGCCCCTTCAACCTCC | CA2273926653 | SOX9 | c.1259_1276delinsACAGCCCCTTCAACCTCC (p.Tyr420=)
| |
17 | g.72124117C>A | CA400868058 | SOX9 | c.1260C>A (p.Tyr420Ter)
| dbSNP |
17 | g.72124117C>G | CA400868059 | SOX9 | c.1260C>G (p.Tyr420Ter)
| dbSNP |
17 | g.72124117C>T | CA501432904 | SOX9 | c.1260C>T (p.Tyr420=)
| dbSNP gnomAD v4 COSMIC |
17 | g.72124117_72124118insCAGCC | CA645598839 | SOX9 | c.1260_1261insCAGCC (p.Ser421GlnfsTer?)
| COSMIC |
17 | g.72124119_72124135del | CA16043004 | SOX9 | c.1262_1278del (p.Ser421ThrfsTer?)
| ClinVar dbSNP |
17 | g.72124118A>C | CA400868060 | SOX9 | c.1261A>C (p.Ser421Arg)
| dbSNP |
17 | g.72124118A>G | CA400868061 | SOX9 | c.1261A>G (p.Ser421Gly)
| dbSNP |
17 | g.72124118A>T | CA400868062 | SOX9 | c.1261A>T (p.Ser421Cys)
| dbSNP |
17 | g.72124119G>A | CA400868065 | SOX9 | c.1262G>A (p.Ser421Asn)
| dbSNP |
17 | g.72124119G>C | CA400868064 | SOX9 | c.1262G>C (p.Ser421Thr)
| dbSNP |
17 | g.72124119G>T | CA400868063 | SOX9 | c.1262G>T (p.Ser421Ile)
| dbSNP |
17 | g.72124120C>A | CA400868066 | SOX9 | c.1263C>A (p.Ser421Arg)
| |
17 | g.72124120C= | CA2273926654 | SOX9 | c.1263C= (p.Ser421=)
| |
17 | g.72124120C>G | CA400868067 | SOX9 | c.1263C>G (p.Ser421Arg)
| dbSNP |
17 | g.72124120C>T | CA8739132 | SOX9 | c.1263C>T (p.Ser421=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124121C>A | CA400868068 | SOX9 | c.1264C>A (p.Pro422Thr)
| dbSNP |
17 | g.72124121C= | CA2273926655 | SOX9 | c.1264C= (p.Pro422=)
| |
17 | g.72124121C>G | CA400868069 | SOX9 | c.1264C>G (p.Pro422Ala)
| dbSNP |
17 | g.72124121C>T | CA400868070 | SOX9 | c.1264C>T (p.Pro422Ser)
| dbSNP |
17 | g.72124122C>A | CA400868071 | SOX9 | c.1265C>A (p.Pro422His)
| dbSNP |
17 | g.72124122C>G | CA400868072 | SOX9 | c.1265C>G (p.Pro422Arg)
| dbSNP gnomAD v4 |
17 | g.72124122C>T | CA400868073 | SOX9 | c.1265C>T (p.Pro422Leu)
| dbSNP |
17 | g.72124123C>A | CA501432905 | SOX9 | c.1266C>A (p.Pro422=)
| dbSNP |
17 | g.72124123C>G | CA501432906 | SOX9 | c.1266C>G (p.Pro422=)
| |
17 | g.72124123C>T | CA501432907 | SOX9 | c.1266C>T (p.Pro422=)
| dbSNP |
17 | g.72124124T>A | CA400868074 | SOX9 | c.1267T>A (p.Phe423Ile)
| dbSNP |
17 | g.72124124T>C | CA400868075 | SOX9 | c.1267T>C (p.Phe423Leu)
| dbSNP |
17 | g.72124124T>G | CA400868076 | SOX9 | c.1267T>G (p.Phe423Val)
| |
17 | g.72124125del | CA501432921 | SOX9 | c.1268del (p.Phe423SerfsTer?)
| |
17 | g.72124125T>A | CA400868077 | SOX9 | c.1268T>A (p.Phe423Tyr)
| dbSNP |
17 | g.72124125T>C | CA400868078 | SOX9 | c.1268T>C (p.Phe423Ser)
| dbSNP |
17 | g.72124125T>G | CA400868079 | SOX9 | c.1268T>G (p.Phe423Cys)
| |
17 | g.72124125T= | CA2273926656 | SOX9 | c.1268T= (p.Phe423=)
| |
17 | g.72124126C>A | CA400868080 | SOX9 | c.1269C>A (p.Phe423Leu)
| |
17 | g.72124126C>G | CA400868081 | SOX9 | c.1269C>G (p.Phe423Leu)
| dbSNP |
17 | g.72124126C>T | CA501432922 | SOX9 | c.1269C>T (p.Phe423=)
| dbSNP |
17 | g.72124127_72124150dup | CA2273926657 | SOX9 | c.1270_1293dup (p.Ser431_Tyr432insAsnLeuProHisTyrSerProSer)
| dbSNP |
17 | g.72124127A>C | CA400868082 | SOX9 | c.1270A>C (p.Asn424His)
| dbSNP gnomAD v4 |
17 | g.72124127A>G | CA400868083 | SOX9 | c.1270A>G (p.Asn424Asp)
| |
17 | g.72124127A>T | CA400868084 | SOX9 | c.1270A>T (p.Asn424Tyr)
| dbSNP |
17 | g.72124128A= | CA2273926658 | SOX9 | c.1271A= (p.Asn424=)
| |
17 | g.72124128A>C | CA400868085 | SOX9 | c.1271A>C (p.Asn424Thr)
| dbSNP |
17 | g.72124128A>G | CA400868086 | SOX9 | c.1271A>G (p.Asn424Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124128A>T | CA400868087 | SOX9 | c.1271A>T (p.Asn424Ile)
| dbSNP |
17 | g.72124129C>A | CA400868089 | SOX9 | c.1272C>A (p.Asn424Lys)
| dbSNP gnomAD v4 |
17 | g.72124129C>G | CA400868088 | SOX9 | c.1272C>G (p.Asn424Lys)
| dbSNP |
17 | g.72124129C>T | CA501432923 | SOX9 | c.1272C>T (p.Asn424=)
| dbSNP gnomAD v4 |
17 | g.72124130C>A | CA400868090 | SOX9 | c.1273C>A (p.Leu425Ile)
| dbSNP gnomAD v4 |
17 | g.72124130C= | CA2273926659 | SOX9 | c.1273C= (p.Leu425=)
| |
17 | g.72124130C>G | CA400868091 | SOX9 | c.1273C>G (p.Leu425Val)
| dbSNP |
17 | g.72124130C>T | CA400868092 | SOX9 | c.1273C>T (p.Leu425Phe)
| dbSNP |
17 | g.72124131T>A | CA400868093 | SOX9 | c.1274T>A (p.Leu425His)
| |
17 | g.72124131T>C | CA400868094 | SOX9 | c.1274T>C (p.Leu425Pro)
| |
17 | g.72124131T>G | CA400868095 | SOX9 | c.1274T>G (p.Leu425Arg)
| |
17 | g.72124132C>A | CA501432924 | SOX9 | c.1275C>A (p.Leu425=)
| dbSNP |
17 | g.72124132C>G | CA501432926 | SOX9 | c.1275C>G (p.Leu425=)
| dbSNP |
17 | g.72124132C>T | CA501432925 | SOX9 | c.1275C>T (p.Leu425=)
| dbSNP |
17 | g.72124133C>A | CA400868096 | SOX9 | c.1276C>A (p.Pro426Thr)
| |
17 | g.72124133C>G | CA400868098 | SOX9 | c.1276C>G (p.Pro426Ala)
| dbSNP |
17 | g.72124133C>T | CA400868097 | SOX9 | c.1276C>T (p.Pro426Ser)
| dbSNP |
17 | g.72124134C>A | CA400868099 | SOX9 | c.1277C>A (p.Pro426Gln)
| dbSNP gnomAD v4 |
17 | g.72124134C>G | CA400868100 | SOX9 | c.1277C>G (p.Pro426Arg)
| |
17 | g.72124134C>T | CA400868101 | SOX9 | c.1277C>T (p.Pro426Leu)
| dbSNP gnomAD v4 |
17 | g.72124134_72124135insGA | CA645598840 | SOX9 | c.1277_1278insGA (p.His427AsnfsTer?)
| COSMIC |
17 | g.72124135A>C | CA501432927 | SOX9 | c.1278A>C (p.Pro426=)
| dbSNP |
17 | g.72124135A>G | CA501432928 | SOX9 | c.1278A>G (p.Pro426=)
| |
17 | g.72124135A>T | CA501432929 | SOX9 | c.1278A>T (p.Pro426=)
| dbSNP |
17 | g.72124136C>A | CA400868102 | SOX9 | c.1279C>A (p.His427Asn)
| gnomAD v4 |
17 | g.72124136C>G | CA400868103 | SOX9 | c.1279C>G (p.His427Asp)
| dbSNP |
17 | g.72124136C>T | CA400868104 | SOX9 | c.1279C>T (p.His427Tyr)
| dbSNP |
17 | g.72124138_72124160del | CA645598841 | SOX9 | c.1281_1303del (p.Tyr428HisfsTer?)
| COSMIC |
17 | g.72124137A= | CA2273926660 | SOX9 | c.1280A= (p.His427=)
| |
17 | g.72124137A>C | CA400868106 | SOX9 | c.1280A>C (p.His427Pro)
| dbSNP |
17 | g.72124137A>G | CA8739133 | SOX9 | c.1280A>G (p.His427Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124137A>T | CA400868105 | SOX9 | c.1280A>T (p.His427Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124138C>A | CA400868107 | SOX9 | c.1281C>A (p.His427Gln)
| |
17 | g.72124138C= | CA2273926661 | SOX9 | c.1281C= (p.His427=)
| |
17 | g.72124138C>G | CA400868108 | SOX9 | c.1281C>G (p.His427Gln)
| dbSNP |
17 | g.72124138C>T | CA501432930 | SOX9 | c.1281C>T (p.His427=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124139del | CA2734006303 | SOX9 | c.1282del (p.Tyr428ThrfsTer?)
| dbSNP |
17 | g.72124139T>A | CA400868109 | SOX9 | c.1282T>A (p.Tyr428Asn)
| dbSNP |
17 | g.72124139T>C | CA8739134 | SOX9 | c.1282T>C (p.Tyr428His)
| dbSNP ExAC gnomAD v2 |
17 | g.72124139T>G | CA400868110 | SOX9 | c.1282T>G (p.Tyr428Asp)
| |
17 | g.72124139T= | CA2273926662 | SOX9 | c.1282T= (p.Tyr428=)
| |
17 | g.72124140A>C | CA400868111 | SOX9 | c.1283A>C (p.Tyr428Ser)
| dbSNP |
17 | g.72124140A>G | CA400868113 | SOX9 | c.1283A>G (p.Tyr428Cys)
| COSMIC |
17 | g.72124140A>T | CA400868112 | SOX9 | c.1283A>T (p.Tyr428Phe)
| dbSNP |
17 | g.72124141C>A | CA400868114 | SOX9 | c.1284C>A (p.Tyr428Ter)
| dbSNP |
17 | g.72124141C= | CA2273926663 | SOX9 | c.1284C= (p.Tyr428=)
| |
17 | g.72124141C>G | CA400868115 | SOX9 | c.1284C>G (p.Tyr428Ter)
| dbSNP |
17 | g.72124141C>T | CA293784012 | SOX9 | c.1284C>T (p.Tyr428=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124142A= | CA2273926664 | SOX9 | c.1285A= (p.Ser429=)
| |
17 | g.72124142A>C | CA400868116 | SOX9 | c.1285A>C (p.Ser429Arg)
| dbSNP |
17 | g.72124142A>G | CA400868117 | SOX9 | c.1285A>G (p.Ser429Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124142A>T | CA400868118 | SOX9 | c.1285A>T (p.Ser429Cys)
| |
17 | g.72124143G>A | CA400868119 | SOX9 | c.1286G>A (p.Ser429Asn)
| dbSNP |
17 | g.72124143G>C | CA400868120 | SOX9 | c.1286G>C (p.Ser429Thr)
| dbSNP |
17 | g.72124143G>T | CA400868121 | SOX9 | c.1286G>T (p.Ser429Ile)
| dbSNP |
17 | g.72124144C>A | CA8739136 | SOX9 | c.1287C>A (p.Ser429Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124144C= | CA2273926665 | SOX9 | c.1287C= (p.Ser429=)
| |
17 | g.72124144C>G | CA400868122 | SOX9 | c.1287C>G (p.Ser429Arg)
| |
17 | g.72124144C>T | CA8739135 | SOX9 | c.1287C>T (p.Ser429=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124145C>A | CA400868123 | SOX9 | c.1288C>A (p.Pro430Thr)
| dbSNP |
17 | g.72124145C= | CA2273926666 | SOX9 | c.1288C= (p.Pro430=)
| |
17 | g.72124145C>G | CA400868124 | SOX9 | c.1288C>G (p.Pro430Ala)
| dbSNP |
17 | g.72124145C>T | CA10603927 | SOX9 | c.1288C>T (p.Pro430Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124146C>A | CA400868125 | SOX9 | c.1289C>A (p.Pro430His)
| dbSNP |
17 | g.72124146C>G | CA400868127 | SOX9 | c.1289C>G (p.Pro430Arg)
| dbSNP |
17 | g.72124146C>T | CA400868126 | SOX9 | c.1289C>T (p.Pro430Leu)
| dbSNP |
17 | g.72124147C>A | CA501432931 | SOX9 | c.1290C>A (p.Pro430=)
| dbSNP |
17 | g.72124147C>G | CA501432932 | SOX9 | c.1290C>G (p.Pro430=)
| dbSNP |
17 | g.72124147C>T | CA501432933 | SOX9 | c.1290C>T (p.Pro430=)
| dbSNP |
17 | g.72124148T>A | CA400868128 | SOX9 | c.1291T>A (p.Ser431Thr)
| dbSNP |
17 | g.72124148T>C | CA400868129 | SOX9 | c.1291T>C (p.Ser431Pro)
| dbSNP |
17 | g.72124148T>G | CA400868130 | SOX9 | c.1291T>G (p.Ser431Ala)
| |
17 | g.72124149C>A | CA400868131 | SOX9 | c.1292C>A (p.Ser431Tyr)
| |
17 | g.72124149C= | CA2273926667 | SOX9 | c.1292C= (p.Ser431=)
| |
17 | g.72124149C>G | CA400868132 | SOX9 | c.1292C>G (p.Ser431Cys)
| dbSNP |
17 | g.72124149C>T | CA293784026 | SOX9 | c.1292C>T (p.Ser431Phe)
| dbSNP gnomAD v4 |
17 | g.72124151_72124155dup | CA645598842 | SOX9 | c.1294_1298dup (p.Pro434ThrfsTer?)
| COSMIC |
17 | g.72124150C>A | CA501432934 | SOX9 | c.1293C>A (p.Ser431=)
| dbSNP |
17 | g.72124150C>G | CA501432935 | SOX9 | c.1293C>G (p.Ser431=)
| |
17 | g.72124150C>T | CA501432936 | SOX9 | c.1293C>T (p.Ser431=)
| dbSNP |
17 | g.72124151T>A | CA400868133 | SOX9 | c.1294T>A (p.Tyr432Asn)
| dbSNP |
17 | g.72124151T>C | CA400868134 | SOX9 | c.1294T>C (p.Tyr432His)
| dbSNP |
17 | g.72124151T>G | CA400868135 | SOX9 | c.1294T>G (p.Tyr432Asp)
| |
17 | g.72124151dup | CA501432937 | SOX9 | c.1294dup (p.Tyr432LeufsTer?)
| COSMIC |
17 | g.72124152A= | CA2273926668 | SOX9 | c.1295A= (p.Tyr432=)
| |
17 | g.72124152A>C | CA400868136 | SOX9 | c.1295A>C (p.Tyr432Ser)
| |
17 | g.72124152A>G | CA400868137 | SOX9 | c.1295A>G (p.Tyr432Cys)
| |
17 | g.72124152A>T | CA400868138 | SOX9 | c.1295A>T (p.Tyr432Phe)
| dbSNP |
17 | g.72124153C>A | CA400868139 | SOX9 | c.1296C>A (p.Tyr432Ter)
| |
17 | g.72124153C= | CA2273926669 | SOX9 | c.1296C= (p.Tyr432=)
| |
17 | g.72124153C>G | CA400868140 | SOX9 | c.1296C>G (p.Tyr432Ter)
| |
17 | g.72124153C>T | CA501432938 | SOX9 | c.1296C>T (p.Tyr432=)
| dbSNP gnomAD v2 COSMIC |
17 | g.72124154C>A | CA400868141 | SOX9 | c.1297C>A (p.Pro433Thr)
| |
17 | g.72124154C>G | CA400868142 | SOX9 | c.1297C>G (p.Pro433Ala)
| |
17 | g.72124154C>T | CA400868143 | SOX9 | c.1297C>T (p.Pro433Ser)
| gnomAD v4 |
17 | g.72124155C>A | CA400868144 | SOX9 | c.1298C>A (p.Pro433Gln)
| dbSNP |
17 | g.72124155C= | CA2273926670 | SOX9 | c.1298C= (p.Pro433=)
| |
17 | g.72124155C>G | CA400868145 | SOX9 | c.1298C>G (p.Pro433Arg)
| dbSNP gnomAD v4 |
17 | g.72124155C>T | CA400868146 | SOX9 | c.1298C>T (p.Pro433Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124156G>A | CA501432939 | SOX9 | c.1299G>A (p.Pro433=)
| |
17 | g.72124156G>C | CA501432940 | SOX9 | c.1299G>C (p.Pro433=)
| gnomAD v4 |
17 | g.72124156G= | CA2273926671 | SOX9 | c.1299G= (p.Pro433=)
| |
17 | g.72124156G>T | CA8739137 | SOX9 | c.1299G>T (p.Pro433=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124157C>A | CA400868147 | SOX9 | c.1300C>A (p.Pro434Thr)
| dbSNP |
17 | g.72124157C>G | CA400868148 | SOX9 | c.1300C>G (p.Pro434Ala)
| dbSNP |
17 | g.72124157C>T | CA400868149 | SOX9 | c.1300C>T (p.Pro434Ser)
| dbSNP COSMIC |
17 | g.72124159del | CA645598843 | SOX9 | c.1302del (p.Ile435SerfsTer?)
| COSMIC |
17 | g.72124158C>A | CA400868150 | SOX9 | c.1301C>A (p.Pro434His)
| dbSNP |
17 | g.72124158C= | CA2273926672 | SOX9 | c.1301C= (p.Pro434=)
| |
17 | g.72124158C>G | CA400868151 | SOX9 | c.1301C>G (p.Pro434Arg)
| dbSNP |
17 | g.72124158C>T | CA400868152 | SOX9 | c.1301C>T (p.Pro434Leu)
| dbSNP gnomAD v4 |
17 | g.72124159C>A | CA501432941 | SOX9 | c.1302C>A (p.Pro434=)
| dbSNP COSMIC |
17 | g.72124159C= | CA2273926673 | SOX9 | c.1302C= (p.Pro434=)
| |
17 | g.72124159C>G | CA501432942 | SOX9 | c.1302C>G (p.Pro434=)
| |
17 | g.72124159C>T | CA501432943 | SOX9 | c.1302C>T (p.Pro434=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124160A= | CA2273926674 | SOX9 | c.1303A= (p.Ile435=)
| |
17 | g.72124160A>C | CA400868153 | SOX9 | c.1303A>C (p.Ile435Leu)
| dbSNP |
17 | g.72124160A>G | CA8739138 | SOX9 | c.1303A>G (p.Ile435Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124160A>T | CA400868154 | SOX9 | c.1303A>T (p.Ile435Phe)
| dbSNP |
17 | g.72124161T>A | CA400868155 | SOX9 | c.1304T>A (p.Ile435Asn)
| dbSNP |
17 | g.72124161T>C | CA400868156 | SOX9 | c.1304T>C (p.Ile435Thr)
| dbSNP |
17 | g.72124161T>G | CA400868157 | SOX9 | c.1304T>G (p.Ile435Ser)
| |
17 | g.72124161_72124163delinsCCC | CA2573054565 | SOX9 | c.1304_1306delinsCCC (p.Ile435_Thr436delinsThrPro)
| ClinVar dbSNP |
17 | g.72124162C>A | CA501432944 | SOX9 | c.1305C>A (p.Ile435=)
| dbSNP |
17 | g.72124162C>G | CA400868158 | SOX9 | c.1305C>G (p.Ile435Met)
| dbSNP |
17 | g.72124162C>T | CA501432945 | SOX9 | c.1305C>T (p.Ile435=)
| dbSNP gnomAD v4 |
17 | g.72124163A= | CA2273926675 | SOX9 | c.1306A= (p.Thr436=)
| |
17 | g.72124163A>C | CA400868159 | SOX9 | c.1306A>C (p.Thr436Pro)
| |
17 | g.72124163A>G | CA400868160 | SOX9 | c.1306A>G (p.Thr436Ala)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124163A>T | CA400868161 | SOX9 | c.1306A>T (p.Thr436Ser)
| dbSNP |
17 | g.72124164C>A | CA400868162 | SOX9 | c.1307C>A (p.Thr436Asn)
| |
17 | g.72124164C>G | CA400868163 | SOX9 | c.1307C>G (p.Thr436Ser)
| dbSNP |
17 | g.72124164C>T | CA400868164 | SOX9 | c.1307C>T (p.Thr436Ile)
| dbSNP gnomAD v4 COSMIC |
17 | g.72124165C>A | CA501432946 | SOX9 | c.1308C>A (p.Thr436=)
| dbSNP |
17 | g.72124165C= | CA2273926676 | SOX9 | c.1308C= (p.Thr436=)
| |
17 | g.72124165C>G | CA501432947 | SOX9 | c.1308C>G (p.Thr436=)
| dbSNP gnomAD v4 |
17 | g.72124165C>T | CA501432948 | SOX9 | c.1308C>T (p.Thr436=)
| dbSNP |
17 | g.72124166C>A | CA400868165 | SOX9 | c.1309C>A (p.Arg437Ser)
| dbSNP |
17 | g.72124166C= | CA2273926677 | SOX9 | c.1309C= (p.Arg437=)
| |
17 | g.72124166C>G | CA400868166 | SOX9 | c.1309C>G (p.Arg437Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124166C>T | CA400868167 | SOX9 | c.1309C>T (p.Arg437Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124167G>A | CA400868170 | SOX9 | c.1310G>A (p.Arg437His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124167G>C | CA400868168 | SOX9 | c.1310G>C (p.Arg437Pro)
| dbSNP |
17 | g.72124167G= | CA2273926678 | SOX9 | c.1310G= (p.Arg437=)
| |
17 | g.72124167G>T | CA400868169 | SOX9 | c.1310G>T (p.Arg437Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124168C>A | CA501432949 | SOX9 | c.1311C>A (p.Arg437=)
| |
17 | g.72124168C= | CA2273926679 | SOX9 | c.1311C= (p.Arg437=)
| |
17 | g.72124168C>G | CA8739139 | SOX9 | c.1311C>G (p.Arg437=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124168C>T | CA501432950 | SOX9 | c.1311C>T (p.Arg437=)
| dbSNP |
17 | g.72124168_72124187delinsCTCACAGTACGACTACACCG | CA2273926680 | SOX9 | c.1311_1330delinsCTCACAGTACGACTACACCG (p.Arg437=)
| |
17 | g.72124169T>A | CA400868171 | SOX9 | c.1312T>A (p.Ser438Thr)
| dbSNP |
17 | g.72124169T>C | CA400868172 | SOX9 | c.1312T>C (p.Ser438Pro)
| dbSNP |
17 | g.72124169T>G | CA400868173 | SOX9 | c.1312T>G (p.Ser438Ala)
| |
17 | g.72124169_72124187del | CA915952177 | SOX9 | c.1312_1330del (p.Ser438ThrfsTer26)
| ClinVar dbSNP |
17 | g.72124170C>A | CA400868174 | SOX9 | c.1313C>A (p.Ser438Ter)
| dbSNP |
17 | g.72124170C>G | CA400868175 | SOX9 | c.1313C>G (p.Ser438Ter)
| dbSNP |
17 | g.72124170C>T | CA400868176 | SOX9 | c.1313C>T (p.Ser438Leu)
| dbSNP |
17 | g.72124171del | CA645598844 | SOX9 | c.1314del (p.Gln439SerfsTer?)
| COSMIC |
17 | g.72124171A= | CA2273926681 | SOX9 | c.1314A= (p.Ser438=)
| |
17 | g.72124171A>C | CA501432951 | SOX9 | c.1314A>C (p.Ser438=)
| dbSNP |
17 | g.72124171A>G | CA501432952 | SOX9 | c.1314A>G (p.Ser438=)
| dbSNP |
17 | g.72124171A>T | CA8739140 | SOX9 | c.1314A>T (p.Ser438=)
| dbSNP ExAC gnomAD v2 |
17 | g.72124172C>A | CA400868177 | SOX9 | c.1315C>A (p.Gln439Lys)
| |
17 | g.72124172C>G | CA400868178 | SOX9 | c.1315C>G (p.Gln439Glu)
| dbSNP |
17 | g.72124172C>T | CA400868179 | SOX9 | c.1315C>T (p.Gln439Ter)
| dbSNP |
17 | g.72124173A>C | CA400868180 | SOX9 | c.1316A>C (p.Gln439Pro)
| |
17 | g.72124173A>G | CA400868182 | SOX9 | c.1316A>G (p.Gln439Arg)
| dbSNP gnomAD v4 |
17 | g.72124173A>T | CA400868181 | SOX9 | c.1316A>T (p.Gln439Leu)
| dbSNP |
17 | g.72124174G>A | CA501432954 | SOX9 | c.1317G>A (p.Gln439=)
| dbSNP |
17 | g.72124174G>C | CA400868183 | SOX9 | c.1317G>C (p.Gln439His)
| dbSNP |
17 | g.72124174G= | CA2273926682 | SOX9 | c.1317G= (p.Gln439=)
| |
17 | g.72124174G>T | CA400868184 | SOX9 | c.1317G>T (p.Gln439His)
| gnomAD v4 |
17 | g.72124174dup | CA501432953 | SOX9 | c.1317dup (p.Tyr440ValfsTer?)
| COSMIC |
17 | g.72124175T>A | CA400868185 | SOX9 | c.1318T>A (p.Tyr440Asn)
| dbSNP |
17 | g.72124175T>C | CA400868189 | SOX9 | c.1318T>C (p.Tyr440His)
| dbSNP |
17 | g.72124175T>G | CA400868187 | SOX9 | c.1318T>G (p.Tyr440Asp)
| dbSNP |
17 | g.72124176A>C | CA400868190 | SOX9 | c.1319A>C (p.Tyr440Ser)
| dbSNP |
17 | g.72124176A>G | CA400868192 | SOX9 | c.1319A>G (p.Tyr440Cys)
| dbSNP COSMIC |
17 | g.72124176A>T | CA400868191 | SOX9 | c.1319A>T (p.Tyr440Phe)
| dbSNP gnomAD v4 |
17 | g.72124178_72124180del | CA2639603213 | SOX9 | c.1321_1323del (p.Asp441del)
| gnomAD v4 |
17 | g.72124177C>A | CA341683 | SOX9 | c.1320C>A (p.Tyr440Ter)
| ClinVar dbSNP |
17 | g.72124177C= | CA2273926683 | SOX9 | c.1320C= (p.Tyr440=)
| |
17 | g.72124177C>G | CA115583 | SOX9 | c.1320C>G (p.Tyr440Ter)
| ClinVar dbSNP |
17 | g.72124177C>T | CA8739141 | SOX9 | c.1320C>T (p.Tyr440=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124178G>A | CA8739142 | SOX9 | c.1321G>A (p.Asp441Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124178G>C | CA400868193 | SOX9 | c.1321G>C (p.Asp441His)
| dbSNP gnomAD v4 |
17 | g.72124178G= | CA2273926684 | SOX9 | c.1321G= (p.Asp441=)
| |
17 | g.72124178G>T | CA400868194 | SOX9 | c.1321G>T (p.Asp441Tyr)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.72124179A= | CA2273926685 | SOX9 | c.1322A= (p.Asp441=)
| |
17 | g.72124179A>C | CA400868195 | SOX9 | c.1322A>C (p.Asp441Ala)
| dbSNP |
17 | g.72124179A>G | CA8739143 | SOX9 | c.1322A>G (p.Asp441Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124179A>T | CA400868196 | SOX9 | c.1322A>T (p.Asp441Val)
| dbSNP |
17 | g.72124180C>A | CA400868197 | SOX9 | c.1323C>A (p.Asp441Glu)
| |
17 | g.72124180C>G | CA400868198 | SOX9 | c.1323C>G (p.Asp441Glu)
| dbSNP |
17 | g.72124180C>T | CA501432955 | SOX9 | c.1323C>T (p.Asp441=)
| dbSNP |
17 | g.72124181T>A | CA400868201 | SOX9 | c.1324T>A (p.Tyr442Asn)
| |
17 | g.72124181T>C | CA400868200 | SOX9 | c.1324T>C (p.Tyr442His)
| |
17 | g.72124181T>G | CA400868199 | SOX9 | c.1324T>G (p.Tyr442Asp)
| |
17 | g.72124182A>C | CA400868202 | SOX9 | c.1325A>C (p.Tyr442Ser)
| dbSNP |
17 | g.72124182A>G | CA400868203 | SOX9 | c.1325A>G (p.Tyr442Cys)
| dbSNP gnomAD v4 |
17 | g.72124182A>T | CA400868204 | SOX9 | c.1325A>T (p.Tyr442Phe)
| dbSNP |
17 | g.72124183C>A | CA400868205 | SOX9 | c.1326C>A (p.Tyr442Ter)
| dbSNP |
17 | g.72124183C>G | CA400868206 | SOX9 | c.1326C>G (p.Tyr442Ter)
| dbSNP |
17 | g.72124183C>T | CA501432956 | SOX9 | c.1326C>T (p.Tyr442=)
| dbSNP |
17 | g.72124184A>C | CA400868207 | SOX9 | c.1327A>C (p.Thr443Pro)
| dbSNP |
17 | g.72124184A>G | CA400868208 | SOX9 | c.1327A>G (p.Thr443Ala)
| dbSNP |
17 | g.72124184A>T | CA400868209 | SOX9 | c.1327A>T (p.Thr443Ser)
| dbSNP |
17 | g.72124187_72124190del | CA2695226907 | SOX9 | c.1330_1333del (p.Asp444ThrfsTer25)
| |
17 | g.72124185C>A | CA400868210 | SOX9 | c.1328C>A (p.Thr443Asn)
| dbSNP |
17 | g.72124185C>G | CA400868211 | SOX9 | c.1328C>G (p.Thr443Ser)
| dbSNP |
17 | g.72124185C>T | CA400868212 | SOX9 | c.1328C>T (p.Thr443Ile)
| dbSNP |
17 | g.72124186C>A | CA501432957 | SOX9 | c.1329C>A (p.Thr443=)
| dbSNP |
17 | g.72124186C>G | CA501432958 | SOX9 | c.1329C>G (p.Thr443=)
| dbSNP gnomAD v4 |
17 | g.72124186C>T | CA501432959 | SOX9 | c.1329C>T (p.Thr443=)
| dbSNP |
17 | g.72124187G>A | CA8739144 | SOX9 | c.1330G>A (p.Asp444Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.72124187G>C | CA400868214 | SOX9 | c.1330G>C (p.Asp444His)
| dbSNP |
17 | g.72124187G= | CA2273926686 | SOX9 | c.1330G= (p.Asp444=)
| |
17 | g.72124187G>T | CA400868213 | SOX9 | c.1330G>T (p.Asp444Tyr)
| dbSNP gnomAD v2 COSMIC |