17 | g.72123887_72123919dup | CA774801270 | SOX9 | c.1030_1062dup (p.Pro354_Ala355insProProProGlnGlnProProGlnAlaProPro)
| dbSNP |
17 | g.72123904_72123987del | CA913189140 | SOX9 | c.1047_1130del (p.Pro350_Pro377del)
| gnomAD v4 |
17 | g.72123895_72123906dup | CA2639603156 | SOX9 | c.1038_1049dup (p.Pro350_Gln351insGlnGlnProPro)
| gnomAD v4 |
17 | g.72123895_72123906del | CA627589952 | SOX9 | c.1038_1049del (p.Gln347_Pro350del)
| dbSNP gnomAD v2 |
17 | g.72123898_72123906del | CA2639603157 | SOX9 | c.1041_1049del (p.Gln348_Pro350del)
| gnomAD v4 |
17 | g.72123898_72123907delinsGCAGCCCCCA | CA2273926503 | SOX9 | c.1041_1050delinsGCAGCCCCCA (p.Gln347=)
| |
17 | g.72123902_72123910del | CA2273926504 | SOX9 | c.1045_1053del (p.Pro349_Gln351del)
| dbSNP gnomAD v4 |
17 | g.72123901_72123902delinsAG | CA2273926507 | SOX9 | c.1044_1045delinsAG (p.Pro349Ala)
| dbSNP |
17 | g.72123901_72123902delinsGC | CA2273926505 | SOX9 | c.1044_1045delinsGC (p.Gln348=)
| |
17 | g.72123901_72123903delinsGCC | CA2273926506 | SOX9 | c.1044_1046delinsGCC (p.Gln348=)
| |
17 | g.72123902C>A | CA400867601 | SOX9 | c.1045C>A (p.Pro349Thr)
| dbSNP gnomAD v4 |
17 | g.72123902C= | CA2273926509 | SOX9 | c.1045C= (p.Pro349=)
| |
17 | g.72123902C>G | CA400867602 | SOX9 | c.1045C>G (p.Pro349Ala)
| dbSNP |
17 | g.72123902C>T | CA400867603 | SOX9 | c.1045C>T (p.Pro349Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123906del | CA2576374515 | SOX9 | c.1049del (p.Pro350HisfsTer?)
| dbSNP gnomAD v4 |
17 | g.72123905_72123906del | CA2273926508 | SOX9 | c.1048_1049del (p.Pro350ThrfsTer?)
| dbSNP |
17 | g.72123902_72123920delinsCCCCCACAGGCCCCGCCGG | CA2273926510 | SOX9 | c.1045_1063delinsCCCCCACAGGCCCCGCCGG (p.Pro349=)
| |
17 | g.72123903C>A | CA400867604 | SOX9 | c.1046C>A (p.Pro349His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123903C= | CA2273926512 | SOX9 | c.1046C= (p.Pro349=)
| |
17 | g.72123903C>G | CA400867605 | SOX9 | c.1046C>G (p.Pro349Arg)
| |
17 | g.72123903C>T | CA400867606 | SOX9 | c.1046C>T (p.Pro349Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123907_72123924del | CA2273926511 | SOX9 | c.1050_1067del (p.Gln351_Pro356del)
| dbSNP |
17 | g.72123904C>A | CA501432703 | SOX9 | c.1047C>A (p.Pro349=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123904C= | CA2273926513 | SOX9 | c.1047C= (p.Pro349=)
| |
17 | g.72123904C>G | CA501432704 | SOX9 | c.1047C>G (p.Pro349=)
| |
17 | g.72123904C>T | CA501432705 | SOX9 | c.1047C>T (p.Pro349=)
| gnomAD v4 |
17 | g.72123905C>A | CA400867609 | SOX9 | c.1048C>A (p.Pro350Thr)
| dbSNP gnomAD v4 |
17 | g.72123905C>G | CA400867608 | SOX9 | c.1048C>G (p.Pro350Ala)
| dbSNP |
17 | g.72123905C>T | CA400867607 | SOX9 | c.1048C>T (p.Pro350Ser)
| gnomAD v4 |
17 | g.72123906_72123989del | CA2639603158 | SOX9 | c.1049_1132del (p.Pro350_Pro377del)
| gnomAD v4 |
17 | g.72123906C>A | CA400867610 | SOX9 | c.1049C>A (p.Pro350Gln)
| dbSNP gnomAD v4 |
17 | g.72123906C= | CA2273926514 | SOX9 | c.1049C= (p.Pro350=)
| |
17 | g.72123906C>G | CA400867611 | SOX9 | c.1049C>G (p.Pro350Arg)
| |
17 | g.72123906C>T | CA400867612 | SOX9 | c.1049C>T (p.Pro350Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123907A= | CA2273926515 | SOX9 | c.1050A= (p.Pro350=)
| |
17 | g.72123907A>C | CA501432706 | SOX9 | c.1050A>C (p.Pro350=)
| dbSNP |
17 | g.72123907A>G | CA501432707 | SOX9 | c.1050A>G (p.Pro350=)
| |
17 | g.72123907A>T | CA501432708 | SOX9 | c.1050A>T (p.Pro350=)
| dbSNP |
17 | g.72123907_72123908insAAGGCCCCG | CA986080770 | SOX9 | c.1050_1051insAAGGCCCCG (p.Pro350_Gln351insLysAlaPro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123908C>A | CA400867613 | SOX9 | c.1051C>A (p.Gln351Lys)
| dbSNP gnomAD v4 |
17 | g.72123908C= | CA2273926516 | SOX9 | c.1051C= (p.Gln351=)
| |
17 | g.72123908C>G | CA400867614 | SOX9 | c.1051C>G (p.Gln351Glu)
| dbSNP |
17 | g.72123908C>T | CA400867615 | SOX9 | c.1051C>T (p.Gln351Ter)
| dbSNP |
17 | g.72123909A= | CA2273926518 | SOX9 | c.1052A= (p.Gln351=)
| |
17 | g.72123909A>C | CA293783599 | SOX9 | c.1052A>C (p.Gln351Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123909A>G | CA400867616 | SOX9 | c.1052A>G (p.Gln351Arg)
| gnomAD v4 |
17 | g.72123909A>T | CA400867617 | SOX9 | c.1052A>T (p.Gln351Leu)
| |
17 | g.72123909_72123918delinsAGGCCCCGCC | CA2273926517 | SOX9 | c.1052_1061delinsAGGCCCCGCC (p.Gln351=)
| |
17 | g.72123910G>A | CA501432709 | SOX9 | c.1053G>A (p.Gln351=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123910G>C | CA400867618 | SOX9 | c.1053G>C (p.Gln351His)
| dbSNP |
17 | g.72123910G= | CA2273926520 | SOX9 | c.1053G= (p.Gln351=)
| |
17 | g.72123910G>T | CA400867619 | SOX9 | c.1053G>T (p.Gln351His)
| gnomAD v4 |
17 | g.72123918_72123926dup | CA2273926519 | SOX9 | c.1061_1069dup (p.Pro356_Gln357insProAlaPro)
| ClinVar dbSNP |
17 | g.72123918_72123926del | CA8739081 | SOX9 | c.1061_1069del (p.Pro354_Pro356del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123911G>A | CA400867622 | SOX9 | c.1054G>A (p.Ala352Thr)
| gnomAD v4 |
17 | g.72123911G>C | CA400867621 | SOX9 | c.1054G>C (p.Ala352Pro)
| |
17 | g.72123911G>T | CA400867620 | SOX9 | c.1054G>T (p.Ala352Ser)
| |
17 | g.72123912C>A | CA400867624 | SOX9 | c.1055C>A (p.Ala352Asp)
| gnomAD v4 |
17 | g.72123912C= | CA2273926521 | SOX9 | c.1055C= (p.Ala352=)
| |
17 | g.72123912C>G | CA400867623 | SOX9 | c.1055C>G (p.Ala352Gly)
| |
17 | g.72123912C>T | CA400867625 | SOX9 | c.1055C>T (p.Ala352Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123915del | CA2639603160 | SOX9 | c.1058del (p.Pro353ArgfsTer30)
| gnomAD v4 |
17 | g.72123913C>A | CA501432710 | SOX9 | c.1056C>A (p.Ala352=)
| dbSNP gnomAD v4 |
17 | g.72123913C>G | CA501432711 | SOX9 | c.1056C>G (p.Ala352=)
| dbSNP |
17 | g.72123913C>T | CA501432712 | SOX9 | c.1056C>T (p.Ala352=)
| dbSNP gnomAD v4 |
17 | g.72123913_72123940delinsCCCGCCGGCCCCGCAGGCGCCCCCGCAG | CA2273926522 | SOX9 | c.1056_1083delinsCCCGCCGGCCCCGCAGGCGCCCCCGCAG (p.Ala352=)
| |
17 | g.72123914C>A | CA400867626 | SOX9 | c.1057C>A (p.Pro353Thr)
| dbSNP |
17 | g.72123914C>G | CA400867627 | SOX9 | c.1057C>G (p.Pro353Ala)
| dbSNP |
17 | g.72123914C>T | CA400867628 | SOX9 | c.1057C>T (p.Pro353Ser)
| dbSNP |
17 | g.72123918_72123944del | CA627589954 | SOX9 | c.1061_1087del (p.Pro354_Pro362del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123915C>A | CA8739082 | SOX9 | c.1058C>A (p.Pro353Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123915C= | CA2273926523 | SOX9 | c.1058C= (p.Pro353=)
| |
17 | g.72123915C>G | CA400867629 | SOX9 | c.1058C>G (p.Pro353Arg)
| dbSNP |
17 | g.72123915C>T | CA400867630 | SOX9 | c.1058C>T (p.Pro353Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123916_72123962del | CA2695226902 | SOX9 | c.1059_1105del (p.Pro354AlafsTer?)
| |
17 | g.72123916G>A | CA293783609 | SOX9 | c.1059G>A (p.Pro353=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123916G>C | CA501432714 | SOX9 | c.1059G>C (p.Pro353=)
| dbSNP |
17 | g.72123916G= | CA2273926524 | SOX9 | c.1059G= (p.Pro353=)
| |
17 | g.72123916G>T | CA501432713 | SOX9 | c.1059G>T (p.Pro353=)
| dbSNP gnomAD v4 |
17 | g.72123917C>A | CA400867631 | SOX9 | c.1060C>A (p.Pro354Thr)
| gnomAD v4 |
17 | g.72123917C>G | CA400867632 | SOX9 | c.1060C>G (p.Pro354Ala)
| |
17 | g.72123917C>T | CA400867633 | SOX9 | c.1060C>T (p.Pro354Ser)
| ClinVar gnomAD v4 |
17 | g.72123918C>A | CA400867634 | SOX9 | c.1061C>A (p.Pro354Gln)
| dbSNP gnomAD v4 |
17 | g.72123918C= | CA2273926526 | SOX9 | c.1061C= (p.Pro354=)
| |
17 | g.72123918C>G | CA400867635 | SOX9 | c.1061C>G (p.Pro354Arg)
| dbSNP |
17 | g.72123918C>T | CA400867636 | SOX9 | c.1061C>T (p.Pro354Leu)
| dbSNP gnomAD v4 |
17 | g.72123918_72123927delinsCGGCCCCGCA | CA2273926525 | SOX9 | c.1061_1070delinsCGGCCCCGCA (p.Pro354=)
| |
17 | g.72123919G>A | CA293783614 | SOX9 | c.1062G>A (p.Pro354=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123919G>C | CA293783633 | SOX9 | c.1062G>C (p.Pro354=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123919G= | CA2273926527 | SOX9 | c.1062G= (p.Pro354=)
| |
17 | g.72123919G>T | CA501432715 | SOX9 | c.1062G>T (p.Pro354=)
| dbSNP gnomAD v4 |
17 | g.72123922_72123930del | CA293783612 | SOX9 | c.1065_1073del (p.Pro356_Ala358del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123920G>A | CA400867639 | SOX9 | c.1063G>A (p.Ala355Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123920G>C | CA400867638 | SOX9 | c.1063G>C (p.Ala355Pro)
| |
17 | g.72123920G= | CA2273926528 | SOX9 | c.1063G= (p.Ala355=)
| |
17 | g.72123920G>T | CA400867637 | SOX9 | c.1063G>T (p.Ala355Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123921C>A | CA400867640 | SOX9 | c.1064C>A (p.Ala355Asp)
| gnomAD v4 |
17 | g.72123921C= | CA2273926530 | SOX9 | c.1064C= (p.Ala355=)
| |
17 | g.72123921C>G | CA400867641 | SOX9 | c.1064C>G (p.Ala355Gly)
| dbSNP |
17 | g.72123921C>T | CA400867642 | SOX9 | c.1064C>T (p.Ala355Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123921_72123939delinsCCCCGCAGGCGCCCCCGCA | CA2273926529 | SOX9 | c.1064_1082delinsCCCCGCAGGCGCCCCCGCA (p.Ala355=)
| |
17 | g.72123929_72123940dup | CA627589959 | SOX9 | c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123929_72123940del | CA2580095098 | SOX9 | c.1072_1083del (p.Ala358_Gln361del)
| ClinVar |
17 | g.72123929_72123982del | CA2810344963 | SOX9 | c.1072_1125del (p.Ala358_Gln375del)
| |
17 | g.72123922C>A | CA501432716 | SOX9 | c.1065C>A (p.Ala355=)
| |
17 | g.72123922C>G | CA501432717 | SOX9 | c.1065C>G (p.Ala355=)
| |
17 | g.72123922C>T | CA501432718 | SOX9 | c.1065C>T (p.Ala355=)
| gnomAD v4 |
17 | g.72123922_72123927del | CA2576374516 | SOX9 | c.1065_1070del (p.Pro356_Gln357del)
| |
17 | g.72123922_72123939del | CA8739083 | SOX9 | c.1065_1082del (p.Pro356_Gln361del)
| ClinVar dbSNP ExAC |
17 | g.72123923C>A | CA400867643 | SOX9 | c.1066C>A (p.Pro356Thr)
| |
17 | g.72123923C>G | CA400867644 | SOX9 | c.1066C>G (p.Pro356Ala)
| |
17 | g.72123923C>T | CA400867645 | SOX9 | c.1066C>T (p.Pro356Ser)
| |
17 | g.72123925_72123933del | CA2639603161 | SOX9 | c.1068_1076del (p.Gln357_Pro359del)
| gnomAD v4 |
17 | g.72123932_72123949del | CA2639603162 | SOX9 | c.1075_1092del (p.Pro359_Ala364del)
| gnomAD v4 |
17 | g.72123924C>A | CA400867646 | SOX9 | c.1067C>A (p.Pro356Gln)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123924C= | CA2273926531 | SOX9 | c.1067C= (p.Pro356=)
| |
17 | g.72123924C>G | CA8739084 | SOX9 | c.1067C>G (p.Pro356Arg)
| dbSNP ExAC gnomAD v4 |
17 | g.72123924C>T | CA400867647 | SOX9 | c.1067C>T (p.Pro356Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123925G>A | CA501432719 | SOX9 | c.1068G>A (p.Pro356=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123925G>C | CA501432720 | SOX9 | c.1068G>C (p.Pro356=)
| |
17 | g.72123925G= | CA2273926532 | SOX9 | c.1068G= (p.Pro356=)
| |
17 | g.72123925G>T | CA501432721 | SOX9 | c.1068G>T (p.Pro356=)
| dbSNP gnomAD v4 |
17 | g.72123927_72123969del | CA2695226903 | SOX9 | c.1070_1112del (p.Gln357ArgfsTer12)
| |
17 | g.72123926C>A | CA400867648 | SOX9 | c.1069C>A (p.Gln357Lys)
| gnomAD v4 |
17 | g.72123926C>G | CA400867649 | SOX9 | c.1069C>G (p.Gln357Glu)
| |
17 | g.72123926C>T | CA400867650 | SOX9 | c.1069C>T (p.Gln357Ter)
| dbSNP gnomAD v4 |
17 | g.72123927A= | CA2273926534 | SOX9 | c.1070A= (p.Gln357=)
| |
17 | g.72123927A>C | CA400867651 | SOX9 | c.1070A>C (p.Gln357Pro)
| dbSNP |
17 | g.72123927A>G | CA400867652 | SOX9 | c.1070A>G (p.Gln357Arg)
| dbSNP gnomAD v4 |
17 | g.72123927A>T | CA293783652 | SOX9 | c.1070A>T (p.Gln357Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123927_72123948delinsAGGCGCCCCCGCAGCCGCAGGC | CA2273926533 | SOX9 | c.1070_1091delinsAGGCGCCCCCGCAGCCGCAGGC (p.Gln357=)
| |
17 | g.72123928G>A | CA501432722 | SOX9 | c.1071G>A (p.Gln357=)
| dbSNP gnomAD v4 |
17 | g.72123928G>C | CA400867653 | SOX9 | c.1071G>C (p.Gln357His)
| dbSNP |
17 | g.72123928G>T | CA400867654 | SOX9 | c.1071G>T (p.Gln357His)
| dbSNP gnomAD v4 |
17 | g.72123937_72123957dup | CA627589963 | SOX9 | c.1080_1100dup (p.Pro367_Gln368insGlnProGlnAlaAlaProPro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123937_72123957del | CA8739085 | SOX9 | c.1080_1100del (p.Gln361_Pro367del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123931_72123972del | CA2639603163 | SOX9 | c.1074_1115del (p.Pro359_Ala372del)
| gnomAD v4 |
17 | g.72123929G>A | CA400867655 | SOX9 | c.1072G>A (p.Ala358Thr)
| gnomAD v4 |
17 | g.72123929G>C | CA400867656 | SOX9 | c.1072G>C (p.Ala358Pro)
| |
17 | g.72123929G>T | CA400867657 | SOX9 | c.1072G>T (p.Ala358Ser)
| gnomAD v4 |
17 | g.72123929_72123935delinsGCGCCCC | CA2273926536 | SOX9 | c.1072_1078delinsGCGCCCC (p.Ala358=)
| |
17 | g.72123929_72123941delinsGCGCCCCCGCAGC | CA2273926535 | SOX9 | c.1072_1084delinsGCGCCCCCGCAGC (p.Ala358=)
| |
17 | g.72123929_72123930insGC | CA645598932 | SOX9 | c.1072_1073insGC (p.Ala358GlyfsTer26)
| COSMIC |
17 | g.72123930C>A | CA8739086 | SOX9 | c.1073C>A (p.Ala358Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123930C= | CA2273926537 | SOX9 | c.1073C= (p.Ala358=)
| |
17 | g.72123930C>G | CA400867658 | SOX9 | c.1073C>G (p.Ala358Gly)
| dbSNP |
17 | g.72123930C>T | CA400867659 | SOX9 | c.1073C>T (p.Ala358Val)
| dbSNP gnomAD v4 |
17 | g.72123933_72123938del | CA2273926538 | SOX9 | c.1076_1081del (p.Pro359_Pro360del)
| dbSNP |
17 | g.72123933_72123944del | CA627589964 | SOX9 | c.1076_1087del (p.Pro359_Pro362del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123931G>A | CA501432723 | SOX9 | c.1074G>A (p.Ala358=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123931G>C | CA293783666 | SOX9 | c.1074G>C (p.Ala358=)
| dbSNP gnomAD v4 |
17 | g.72123931G= | CA2273926539 | SOX9 | c.1074G= (p.Ala358=)
| |
17 | g.72123931G>T | CA8739087 | SOX9 | c.1074G>T (p.Ala358=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123931_72123932insGCCCCGCAGGCC | CA2810344965 | SOX9 | c.1074_1075insGCCCCGCAGGCC (p.Ala358_Pro359insAlaProGlnAla)
| |
17 | g.72123932C>A | CA400867660 | SOX9 | c.1075C>A (p.Pro359Thr)
| gnomAD v4 |
17 | g.72123932C= | CA2273926540 | SOX9 | c.1075C= (p.Pro359=)
| |
17 | g.72123932C>G | CA400867661 | SOX9 | c.1075C>G (p.Pro359Ala)
| dbSNP gnomAD v4 |
17 | g.72123932C>T | CA400867662 | SOX9 | c.1075C>T (p.Pro359Ser)
| dbSNP gnomAD v4 |
17 | g.72123936dup | CA2810344964 | SOX9 | c.1079dup (p.Gln361AlafsTer?)
| |
17 | g.72123936del | CA645598933 | SOX9 | c.1079del (p.Pro360ArgfsTer23)
| gnomAD v4 COSMIC |
17 | g.72123933C>A | CA400867663 | SOX9 | c.1076C>A (p.Pro359His)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123933C= | CA2273926541 | SOX9 | c.1076C= (p.Pro359=)
| |
17 | g.72123933C>G | CA400867665 | SOX9 | c.1076C>G (p.Pro359Arg)
| |
17 | g.72123933C>T | CA400867664 | SOX9 | c.1076C>T (p.Pro359Leu)
| gnomAD v4 |
17 | g.72123934C>A | CA501432724 | SOX9 | c.1077C>A (p.Pro359=)
| gnomAD v4 |
17 | g.72123934C>G | CA501432726 | SOX9 | c.1077C>G (p.Pro359=)
| |
17 | g.72123934C>T | CA501432725 | SOX9 | c.1077C>T (p.Pro359=)
| |
17 | g.72123934_72123952delinsCCCGCAGCCGCAGGCGGCG | CA2273926542 | SOX9 | c.1077_1095delinsCCCGCAGCCGCAGGCGGCG (p.Pro359=)
| |
17 | g.72123935C>A | CA400867666 | SOX9 | c.1078C>A (p.Pro360Thr)
| dbSNP gnomAD v4 |
17 | g.72123935C= | CA2273926543 | SOX9 | c.1078C= (p.Pro360=)
| |
17 | g.72123935C>G | CA400867667 | SOX9 | c.1078C>G (p.Pro360Ala)
| |
17 | g.72123935C>T | CA400867668 | SOX9 | c.1078C>T (p.Pro360Ser)
| dbSNP gnomAD v4 |
17 | g.72123937_72123954del | CA8739088 | SOX9 | c.1080_1097del (p.Gln361_Pro366del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123936C>A | CA400867669 | SOX9 | c.1079C>A (p.Pro360Gln)
| gnomAD v4 |
17 | g.72123936C= | CA2273926545 | SOX9 | c.1079C= (p.Pro360=)
| |
17 | g.72123936C>G | CA400867670 | SOX9 | c.1079C>G (p.Pro360Arg)
| dbSNP |
17 | g.72123936C>T | CA400867671 | SOX9 | c.1079C>T (p.Pro360Leu)
| dbSNP gnomAD v4 |
17 | g.72123936_72123960delinsCGCAGCCGCAGGCGGCGCCCCCACA | CA2273926544 | SOX9 | c.1079_1103delinsCGCAGCCGCAGGCGGCGCCCCCACA (p.Pro360=)
| |
17 | g.72123937G>A | CA501432727 | SOX9 | c.1080G>A (p.Pro360=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123937G>C | CA501432728 | SOX9 | c.1080G>C (p.Pro360=)
| dbSNP gnomAD v4 |
17 | g.72123937G= | CA2273926546 | SOX9 | c.1080G= (p.Pro360=)
| |
17 | g.72123937G>T | CA501432729 | SOX9 | c.1080G>T (p.Pro360=)
| dbSNP gnomAD v4 |
17 | g.72123944_72123967dup | CA2639603165 | SOX9 | c.1087_1110dup (p.Pro370_Ala371insGlnAlaAlaProProGlnGlnPro)
| gnomAD v4 |
17 | g.72123944_72123967del | CA774801397 | SOX9 | c.1087_1110del (p.Gln363_Pro370del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123938C>A | CA400867672 | SOX9 | c.1081C>A (p.Gln361Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123938C= | CA2273926547 | SOX9 | c.1081C= (p.Gln361=)
| |
17 | g.72123938C>G | CA400867673 | SOX9 | c.1081C>G (p.Gln361Glu)
| |
17 | g.72123938C>T | CA400867674 | SOX9 | c.1081C>T (p.Gln361Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123942_72123962del | CA2639603167 | SOX9 | c.1085_1105del (p.Pro362_Gln368del)
| gnomAD v4 |
17 | g.72123939A>C | CA400867677 | SOX9 | c.1082A>C (p.Gln361Pro)
| dbSNP |
17 | g.72123939A>G | CA400867678 | SOX9 | c.1082A>G (p.Gln361Arg)
| dbSNP gnomAD v4 |
17 | g.72123939A>T | CA400867676 | SOX9 | c.1082A>T (p.Gln361Leu)
| |
17 | g.72123940G>A | CA501432730 | SOX9 | c.1083G>A (p.Gln361=)
| dbSNP gnomAD v4 |
17 | g.72123940G>C | CA400867680 | SOX9 | c.1083G>C (p.Gln361His)
| dbSNP |
17 | g.72123940G>T | CA400867679 | SOX9 | c.1083G>T (p.Gln361His)
| gnomAD v4 |
17 | g.72123940_72123941insGCC | CA2576374517 | SOX9 | c.1083_1084insGCC (p.Gln361_Pro362insAla)
| |
17 | g.72123941C>A | CA400867681 | SOX9 | c.1084C>A (p.Pro362Thr)
| gnomAD v4 |
17 | g.72123941C= | CA2273926548 | SOX9 | c.1084C= (p.Pro362=)
| |
17 | g.72123941C>G | CA400867682 | SOX9 | c.1084C>G (p.Pro362Ala)
| gnomAD v4 |
17 | g.72123941C>T | CA400867683 | SOX9 | c.1084C>T (p.Pro362Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123941_72123947delinsCCGCAGG | CA2273926549 | SOX9 | c.1084_1090delinsCCGCAGG (p.Pro362=)
| |
17 | g.72123942C>A | CA400867684 | SOX9 | c.1085C>A (p.Pro362Gln)
| dbSNP gnomAD v4 |
17 | g.72123942C= | CA2273926550 | SOX9 | c.1085C= (p.Pro362=)
| |
17 | g.72123942C>G | CA400867685 | SOX9 | c.1085C>G (p.Pro362Arg)
| gnomAD v4 |
17 | g.72123942C>T | CA400867686 | SOX9 | c.1085C>T (p.Pro362Leu)
| dbSNP gnomAD v4 |
17 | g.72123943_72123944del | CA2810344966 | SOX9 | c.1086_1087del (p.Gln363GlyfsTer?)
| |
17 | g.72123944_72123949del | CA986080816 | SOX9 | c.1087_1092del (p.Gln363_Ala364del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123943G>A | CA501432731 | SOX9 | c.1086G>A (p.Pro362=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123943G>C | CA501432732 | SOX9 | c.1086G>C (p.Pro362=)
| dbSNP gnomAD v4 |
17 | g.72123943G= | CA2273926551 | SOX9 | c.1086G= (p.Pro362=)
| |
17 | g.72123943G>T | CA501432733 | SOX9 | c.1086G>T (p.Pro362=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123945_72123965del | CA2639603168 | SOX9 | c.1088_1108del (p.Gln363_Gln369del)
| gnomAD v4 |
17 | g.72123944C>A | CA400867687 | SOX9 | c.1087C>A (p.Gln363Lys)
| gnomAD v4 |
17 | g.72123944C>G | CA400867688 | SOX9 | c.1087C>G (p.Gln363Glu)
| |
17 | g.72123944C>T | CA400867689 | SOX9 | c.1087C>T (p.Gln363Ter)
| gnomAD v4 |
17 | g.72123950_72123994del | CA2639603169 | SOX9 | c.1093_1137del (p.Ala365_Ala379del)
| gnomAD v4 |
17 | g.72123945A= | CA2273926553 | SOX9 | c.1088A= (p.Gln363=)
| |
17 | g.72123945A>C | CA400867690 | SOX9 | c.1088A>C (p.Gln363Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123945A>G | CA400867691 | SOX9 | c.1088A>G (p.Gln363Arg)
| dbSNP gnomAD v4 |
17 | g.72123945A>T | CA400867692 | SOX9 | c.1088A>T (p.Gln363Leu)
| dbSNP gnomAD v4 |
17 | g.72123945_72123966delinsAGGCGGCGCCCCCACAGCAGCC | CA2273926552 | SOX9 | c.1088_1109delinsAGGCGGCGCCCCCACAGCAGCC (p.Gln363=)
| |
17 | g.72123946G>A | CA501432734 | SOX9 | c.1089G>A (p.Gln363=)
| dbSNP |
17 | g.72123946G>C | CA400867694 | SOX9 | c.1089G>C (p.Gln363His)
| dbSNP |
17 | g.72123946G>T | CA400867693 | SOX9 | c.1089G>T (p.Gln363His)
| dbSNP gnomAD v4 |
17 | g.72123952_72123972dup | CA2639603170 | SOX9 | c.1095_1115dup (p.Ala372_Pro373insProProGlnGlnProAlaAla)
| gnomAD v4 |
17 | g.72123952_72123972del | CA8739089 | SOX9 | c.1095_1115del (p.Pro366_Ala372del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123947G>A | CA8739090 | SOX9 | c.1090G>A (p.Ala364Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.72123947G>C | CA293783691 | SOX9 | c.1090G>C (p.Ala364Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123947G= | CA2273926554 | SOX9 | c.1090G= (p.Ala364=)
| |
17 | g.72123947G>T | CA400867695 | SOX9 | c.1090G>T (p.Ala364Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123948C>A | CA293783697 | SOX9 | c.1091C>A (p.Ala364Glu)
| dbSNP gnomAD v4 |
17 | g.72123948C= | CA2273926555 | SOX9 | c.1091C= (p.Ala364=)
| |
17 | g.72123948C>G | CA400867696 | SOX9 | c.1091C>G (p.Ala364Gly)
| gnomAD v4 |
17 | g.72123948C>T | CA8739091 | SOX9 | c.1091C>T (p.Ala364Val)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.72123949G>A | CA8739092 | SOX9 | c.1092G>A (p.Ala364=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123949G>C | CA501432735 | SOX9 | c.1092G>C (p.Ala364=)
| dbSNP |
17 | g.72123949G= | CA2273926556 | SOX9 | c.1092G= (p.Ala364=)
| |
17 | g.72123949G>T | CA501432736 | SOX9 | c.1092G>T (p.Ala364=)
| dbSNP gnomAD v4 |
17 | g.72123950G>A | CA400867697 | SOX9 | c.1093G>A (p.Ala365Thr)
| dbSNP gnomAD v4 |
17 | g.72123950G>C | CA400867698 | SOX9 | c.1093G>C (p.Ala365Pro)
| dbSNP |
17 | g.72123950G= | CA2273926557 | SOX9 | c.1093G= (p.Ala365=)
| |
17 | g.72123950G>T | CA293783716 | SOX9 | c.1093G>T (p.Ala365Ser)
| dbSNP |
17 | g.72123951C>A | CA400867699 | SOX9 | c.1094C>A (p.Ala365Glu)
| dbSNP gnomAD v4 |
17 | g.72123951C= | CA2273926558 | SOX9 | c.1094C= (p.Ala365=)
| |
17 | g.72123951C>G | CA400867700 | SOX9 | c.1094C>G (p.Ala365Gly)
| dbSNP gnomAD v4 |
17 | g.72123951C>T | CA400867701 | SOX9 | c.1094C>T (p.Ala365Val)
| dbSNP gnomAD v4 |
17 | g.72123952del | CA2639603173 | SOX9 | c.1095del (p.Pro367HisfsTer16)
| gnomAD v4 |
17 | g.72123952G>A | CA8739094 | SOX9 | c.1095G>A (p.Ala365=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123952G>C | CA501432737 | SOX9 | c.1095G>C (p.Ala365=)
| gnomAD v4 |
17 | g.72123952G= | CA2273926560 | SOX9 | c.1095G= (p.Ala365=)
| |
17 | g.72123952G>T | CA501432738 | SOX9 | c.1095G>T (p.Ala365=)
| gnomAD v4 |
17 | g.72123952delinsAT | CA2695226904 | SOX9 | c.1095delinsAT (p.Pro366SerfsTer?)
| |
17 | g.72123952_72123973delinsGCCCCCACAGCAGCCGGCGGCA | CA2273926559 | SOX9 | c.1095_1116delinsGCCCCCACAGCAGCCGGCGGCA (p.Ala365=)
| |
17 | g.72123953C>A | CA400867703 | SOX9 | c.1096C>A (p.Pro366Thr)
| dbSNP gnomAD v4 |
17 | g.72123953C= | CA2273926561 | SOX9 | c.1096C= (p.Pro366=)
| |
17 | g.72123953C>G | CA400867702 | SOX9 | c.1096C>G (p.Pro366Ala)
| dbSNP |
17 | g.72123953C>T | CA8739095 | SOX9 | c.1096C>T (p.Pro366Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123957dup | CA658798969 | SOX9 | c.1100dup (p.Gln368ThrfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123957del | CA501432739 | SOX9 | c.1100del (p.Pro367HisfsTer16)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123958_72123978dup | CA2639603181 | SOX9 | c.1101_1121dup (p.Pro374_Gln375insGlnGlnProAlaAlaProPro)
| gnomAD v4 |
17 | g.72123958_72123978del | CA8739093 | SOX9 | c.1101_1121del (p.Gln368_Pro374del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123954C>A | CA400867704 | SOX9 | c.1097C>A (p.Pro366His)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123954C= | CA2273926562 | SOX9 | c.1097C= (p.Pro366=)
| |
17 | g.72123954C>G | CA400867705 | SOX9 | c.1097C>G (p.Pro366Arg)
| |
17 | g.72123954C>T | CA400867706 | SOX9 | c.1097C>T (p.Pro366Leu)
| dbSNP gnomAD v4 |
17 | g.72123955C>A | CA501432741 | SOX9 | c.1098C>A (p.Pro366=)
| gnomAD v4 |
17 | g.72123955C= | CA2273926563 | SOX9 | c.1098C= (p.Pro366=)
| |
17 | g.72123955C>G | CA501432742 | SOX9 | c.1098C>G (p.Pro366=)
| dbSNP |
17 | g.72123955C>T | CA501432740 | SOX9 | c.1098C>T (p.Pro366=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123955_72123957delinsCCC | CA2273926564 | SOX9 | c.1098_1100delinsCCC (p.Pro366=)
| |
17 | g.72123956C>A | CA400867707 | SOX9 | c.1099C>A (p.Pro367Thr)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123956C= | CA2273926565 | SOX9 | c.1099C= (p.Pro367=)
| |
17 | g.72123956C>G | CA8739096 | SOX9 | c.1099C>G (p.Pro367Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123956C>T | CA400867708 | SOX9 | c.1099C>T (p.Pro367Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123956_72123957delinsG | CA658653846 | SOX9 | c.1099_1100delinsG (p.Pro367AspfsTer16)
| ClinVar dbSNP |
17 | g.72123957C>A | CA400867709 | SOX9 | c.1100C>A (p.Pro367Gln)
| dbSNP gnomAD v4 |
17 | g.72123957C= | CA2273926566 | SOX9 | c.1100C= (p.Pro367=)
| |
17 | g.72123957C>G | CA400867710 | SOX9 | c.1100C>G (p.Pro367Arg)
| ClinVar gnomAD v4 |
17 | g.72123957C>T | CA400867711 | SOX9 | c.1100C>T (p.Pro367Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123958A= | CA2273926567 | SOX9 | c.1101A= (p.Pro367=)
| |
17 | g.72123958A>C | CA501432745 | SOX9 | c.1101A>C (p.Pro367=)
| gnomAD v4 |
17 | g.72123958A>G | CA501432743 | SOX9 | c.1101A>G (p.Pro367=)
| dbSNP gnomAD v4 |
17 | g.72123958A>T | CA501432744 | SOX9 | c.1101A>T (p.Pro367=)
| |
17 | g.72123958_72123979delinsACAGCAGCCGGCGGCACCCCCG | CA2273926568 | SOX9 | c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG (p.Pro367=)
| |
17 | g.72123959C>A | CA400867714 | SOX9 | c.1102C>A (p.Gln368Lys)
| gnomAD v4 |
17 | g.72123959C= | CA2273926569 | SOX9 | c.1102C= (p.Gln368=)
| |
17 | g.72123959C>G | CA400867712 | SOX9 | c.1102C>G (p.Gln368Glu)
| gnomAD v4 |
17 | g.72123959C>T | CA400867713 | SOX9 | c.1102C>T (p.Gln368Ter)
| gnomAD v4 |
17 | g.72123967_72123987del | CA627589967 | SOX9 | c.1110_1130del (p.Ala371_Pro377del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123960A>C | CA400867715 | SOX9 | c.1103A>C (p.Gln368Pro)
| dbSNP |
17 | g.72123960A>G | CA400867716 | SOX9 | c.1103A>G (p.Gln368Arg)
| dbSNP gnomAD v4 |
17 | g.72123960A>T | CA400867717 | SOX9 | c.1103A>T (p.Gln368Leu)
| dbSNP |
17 | g.72123960dup | CA913185038 | SOX9 | c.1103dup (p.Gln369AlafsTer?)
| ClinVar dbSNP |
17 | g.72123961G>A | CA501432746 | SOX9 | c.1104G>A (p.Gln368=)
| dbSNP gnomAD v4 |
17 | g.72123961G>C | CA400867718 | SOX9 | c.1104G>C (p.Gln368His)
| dbSNP |
17 | g.72123961G>T | CA400867719 | SOX9 | c.1104G>T (p.Gln368His)
| gnomAD v4 |
17 | g.72123962C>A | CA400867720 | SOX9 | c.1105C>A (p.Gln369Lys)
| dbSNP gnomAD v4 |
17 | g.72123962C>G | CA400867721 | SOX9 | c.1105C>G (p.Gln369Glu)
| dbSNP |
17 | g.72123962C>T | CA400867722 | SOX9 | c.1105C>T (p.Gln369Ter)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123963A= | CA2273926570 | SOX9 | c.1106A= (p.Gln369=)
| |
17 | g.72123963A>C | CA400867723 | SOX9 | c.1106A>C (p.Gln369Pro)
| dbSNP |
17 | g.72123963A>G | CA400867724 | SOX9 | c.1106A>G (p.Gln369Arg)
| dbSNP gnomAD v4 |
17 | g.72123963A>T | CA400867725 | SOX9 | c.1106A>T (p.Gln369Leu)
| dbSNP |
17 | g.72123964G>A | CA501432747 | SOX9 | c.1107G>A (p.Gln369=)
| dbSNP gnomAD v4 |
17 | g.72123964G>C | CA400867726 | SOX9 | c.1107G>C (p.Gln369His)
| dbSNP gnomAD v4 |
17 | g.72123964G>T | CA400867727 | SOX9 | c.1107G>T (p.Gln369His)
| gnomAD v4 |
17 | g.72123965C>A | CA400867729 | SOX9 | c.1108C>A (p.Pro370Thr)
| dbSNP gnomAD v4 |
17 | g.72123965C>G | CA400867730 | SOX9 | c.1108C>G (p.Pro370Ala)
| dbSNP |
17 | g.72123965C>T | CA400867728 | SOX9 | c.1108C>T (p.Pro370Ser)
| dbSNP gnomAD v4 |
17 | g.72123966del | CA645598935 | SOX9 | c.1109del (p.Pro370ArgfsTer13)
| COSMIC |
17 | g.72123966C>A | CA400867731 | SOX9 | c.1109C>A (p.Pro370Gln)
| dbSNP gnomAD v4 |
17 | g.72123966C= | CA2273926571 | SOX9 | c.1109C= (p.Pro370=)
| |
17 | g.72123966C>G | CA400867733 | SOX9 | c.1109C>G (p.Pro370Arg)
| gnomAD v4 |
17 | g.72123966C>T | CA400867732 | SOX9 | c.1109C>T (p.Pro370Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123967G>A | CA501432750 | SOX9 | c.1110G>A (p.Pro370=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123967G>C | CA501432748 | SOX9 | c.1110G>C (p.Pro370=)
| dbSNP |
17 | g.72123967G= | CA2273926573 | SOX9 | c.1110G= (p.Pro370=)
| |
17 | g.72123967G>T | CA501432749 | SOX9 | c.1110G>T (p.Pro370=)
| |
17 | g.72123967_72123968insCAG | CA2273926572 | SOX9 | c.1110_1111insCAG (p.Pro370_Ala371insGln)
| dbSNP |
17 | g.72123968G>A | CA400867734 | SOX9 | c.1111G>A (p.Ala371Thr)
| dbSNP gnomAD v4 |
17 | g.72123968G>C | CA400867735 | SOX9 | c.1111G>C (p.Ala371Pro)
| |
17 | g.72123968G>T | CA400867736 | SOX9 | c.1111G>T (p.Ala371Ser)
| gnomAD v4 |
17 | g.72123969C>A | CA8739098 | SOX9 | c.1112C>A (p.Ala371Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123969C= | CA2273926574 | SOX9 | c.1112C= (p.Ala371=)
| |
17 | g.72123969C>G | CA400867737 | SOX9 | c.1112C>G (p.Ala371Gly)
| dbSNP |
17 | g.72123969C>T | CA8739097 | SOX9 | c.1112C>T (p.Ala371Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123970G>A | CA202244 | SOX9 | c.1113G>A (p.Ala371=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123970G>C | CA501432751 | SOX9 | c.1113G>C (p.Ala371=)
| dbSNP |
17 | g.72123970G= | CA2273926575 | SOX9 | c.1113G= (p.Ala371=)
| |
17 | g.72123970G>T | CA8739099 | SOX9 | c.1113G>T (p.Ala371=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123971G>A | CA8739100 | SOX9 | c.1114G>A (p.Ala372Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123971G>C | CA400867738 | SOX9 | c.1114G>C (p.Ala372Pro)
| dbSNP gnomAD v4 |
17 | g.72123971G= | CA2273926576 | SOX9 | c.1114G= (p.Ala372=)
| |
17 | g.72123971G>T | CA400867739 | SOX9 | c.1114G>T (p.Ala372Ser)
| gnomAD v4 |
17 | g.72123972C>A | CA400867742 | SOX9 | c.1115C>A (p.Ala372Glu)
| gnomAD v4 |
17 | g.72123972C= | CA2273926577 | SOX9 | c.1115C= (p.Ala372=)
| |
17 | g.72123972C>G | CA400867741 | SOX9 | c.1115C>G (p.Ala372Gly)
| |
17 | g.72123972C>T | CA400867740 | SOX9 | c.1115C>T (p.Ala372Val)
| dbSNP gnomAD v4 |
17 | g.72123973_72123974del | CA2499224894 | SOX9 | c.1116_1117del (p.Pro374AlafsTer?)
| ClinVar dbSNP |
17 | g.72123973A= | CA2273926578 | SOX9 | c.1116A= (p.Ala372=)
| |
17 | g.72123973A>C | CA293783758 | SOX9 | c.1116A>C (p.Ala372=)
| dbSNP |
17 | g.72123973A>G | CA501432752 | SOX9 | c.1116A>G (p.Ala372=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123973A>T | CA501432753 | SOX9 | c.1116A>T (p.Ala372=)
| |
17 | g.72123974C>A | CA400867743 | SOX9 | c.1117C>A (p.Pro373Thr)
| dbSNP gnomAD v4 |
17 | g.72123974C= | CA2273926579 | SOX9 | c.1117C= (p.Pro373=)
| |
17 | g.72123974C>G | CA400867744 | SOX9 | c.1117C>G (p.Pro373Ala)
| dbSNP gnomAD v4 |
17 | g.72123974C>T | CA400867745 | SOX9 | c.1117C>T (p.Pro373Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123978dup | CA2639603205 | SOX9 | c.1121dup (p.Gln375AlafsTer?)
| gnomAD v4 |
17 | g.72123978del | CA2639603206 | SOX9 | c.1121del (p.Pro374ArgfsTer9)
| gnomAD v4 |
17 | g.72123975C>A | CA400867746 | SOX9 | c.1118C>A (p.Pro373His)
| gnomAD v4 |
17 | g.72123975C= | CA2273926580 | SOX9 | c.1118C= (p.Pro373=)
| |
17 | g.72123975C>G | CA293783760 | SOX9 | c.1118C>G (p.Pro373Arg)
| dbSNP |
17 | g.72123975C>T | CA400867747 | SOX9 | c.1118C>T (p.Pro373Leu)
| |
17 | g.72123976C>A | CA501432754 | SOX9 | c.1119C>A (p.Pro373=)
| dbSNP gnomAD v4 |
17 | g.72123976C= | CA2273926581 | SOX9 | c.1119C= (p.Pro373=)
| |
17 | g.72123976C>G | CA501432755 | SOX9 | c.1119C>G (p.Pro373=)
| |
17 | g.72123976C>T | CA8739101 | SOX9 | c.1119C>T (p.Pro373=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123977C>A | CA8739102 | SOX9 | c.1120C>A (p.Pro374Thr)
| dbSNP ExAC gnomAD v2 |
17 | g.72123977C= | CA2273926582 | SOX9 | c.1120C= (p.Pro374=)
| |
17 | g.72123977C>G | CA400867748 | SOX9 | c.1120C>G (p.Pro374Ala)
| dbSNP |
17 | g.72123977C>T | CA8739103 | SOX9 | c.1120C>T (p.Pro374Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123978C>A | CA400867749 | SOX9 | c.1121C>A (p.Pro374Gln)
| dbSNP gnomAD v4 |
17 | g.72123978C= | CA2273926583 | SOX9 | c.1121C= (p.Pro374=)
| |
17 | g.72123978C>G | CA8739104 | SOX9 | c.1121C>G (p.Pro374Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123978C>T | CA400867750 | SOX9 | c.1121C>T (p.Pro374Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123979del | CA2639603207 | SOX9 | c.1122del (p.Gln375SerfsTer8)
| gnomAD v4 |
17 | g.72123979G>A | CA293783800 | SOX9 | c.1122G>A (p.Pro374=)
| dbSNP gnomAD v4 |
17 | g.72123979G>C | CA501432756 | SOX9 | c.1122G>C (p.Pro374=)
| dbSNP |
17 | g.72123979G= | CA2273926584 | SOX9 | c.1122G= (p.Pro374=)
| |
17 | g.72123979G>T | CA8739105 | SOX9 | c.1122G>T (p.Pro374=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123980del | CA2639603208 | SOX9 | c.1123del (p.Gln375SerfsTer8)
| gnomAD v4 |
17 | g.72123980C>A | CA400867751 | SOX9 | c.1123C>A (p.Gln375Lys)
| dbSNP gnomAD v4 |
17 | g.72123980C>G | CA400867752 | SOX9 | c.1123C>G (p.Gln375Glu)
| gnomAD v4 |
17 | g.72123980C>T | CA400867753 | SOX9 | c.1123C>T (p.Gln375Ter)
| dbSNP gnomAD v4 |
17 | g.72123981A= | CA2273926585 | SOX9 | c.1124A= (p.Gln375=)
| |
17 | g.72123981A>C | CA400867754 | SOX9 | c.1124A>C (p.Gln375Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123981A>G | CA400867755 | SOX9 | c.1124A>G (p.Gln375Arg)
| dbSNP gnomAD v4 |
17 | g.72123981A>T | CA400867756 | SOX9 | c.1124A>T (p.Gln375Leu)
| dbSNP |
17 | g.72123982G>A | CA501432757 | SOX9 | c.1125G>A (p.Gln375=)
| dbSNP gnomAD v4 |
17 | g.72123982G>C | CA400867757 | SOX9 | c.1125G>C (p.Gln375His)
| dbSNP COSMIC |
17 | g.72123982G>T | CA400867758 | SOX9 | c.1125G>T (p.Gln375His)
| gnomAD v4 |
17 | g.72123983C>A | CA400867759 | SOX9 | c.1126C>A (p.Gln376Lys)
| dbSNP gnomAD v4 |
17 | g.72123983C>G | CA400867760 | SOX9 | c.1126C>G (p.Gln376Glu)
| ClinVar dbSNP |
17 | g.72123983C>T | CA400867761 | SOX9 | c.1126C>T (p.Gln376Ter)
| dbSNP gnomAD v4 |
17 | g.72123984A>C | CA400867762 | SOX9 | c.1127A>C (p.Gln376Pro)
| dbSNP |
17 | g.72123984A>G | CA400867763 | SOX9 | c.1127A>G (p.Gln376Arg)
| dbSNP gnomAD v4 |
17 | g.72123984A>T | CA400867764 | SOX9 | c.1127A>T (p.Gln376Leu)
| dbSNP |
17 | g.72123985G>A | CA501432758 | SOX9 | c.1128G>A (p.Gln376=)
| gnomAD v4 |
17 | g.72123985G>C | CA400867766 | SOX9 | c.1128G>C (p.Gln376His)
| |
17 | g.72123985G>T | CA400867765 | SOX9 | c.1128G>T (p.Gln376His)
| gnomAD v4 |
17 | g.72123986C>A | CA400867767 | SOX9 | c.1129C>A (p.Pro377Thr)
| dbSNP gnomAD v4 |
17 | g.72123986C>G | CA400867768 | SOX9 | c.1129C>G (p.Pro377Ala)
| dbSNP |
17 | g.72123986C>T | CA400867769 | SOX9 | c.1129C>T (p.Pro377Ser)
| dbSNP 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)
| |