17 | g.72123465_72123475del | CA2639603074 | SOX9 | c.686-78_686-68del (n.686-78_686-68del)
| gnomAD v4 |
17 | g.72123473_72123476del | CA2639603085 | SOX9 | c.686-70_686-67del (n.686-70_686-67del)
| gnomAD v4 |
17 | g.72123474G>A | CA2639603087 | SOX9 | c.686-69G>A (n.686-69G>A)
| dbSNP gnomAD v4 |
17 | g.72123474G>T | CA2639603088 | SOX9 | c.686-69G>T (n.686-69G>T)
| gnomAD v4 |
17 | g.72123475T>A | CA2734001985 | SOX9 | c.686-68T>A (n.686-68T>A)
| dbSNP |
17 | g.72123475T>C | CA2734001986 | SOX9 | c.686-68T>C (n.686-68T>C)
| dbSNP |
17 | g.72123475T>G | CA2639603089 | SOX9 | c.686-68T>G (n.686-68T>G)
| dbSNP gnomAD v4 |
17 | g.72123476G>A | CA774800539 | SOX9 | c.686-67G>A (n.686-67G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123476G>C | CA2733945940 | SOX9 | c.686-67G>C (n.686-67G>C)
| dbSNP |
17 | g.72123476G= | CA2273926285 | SOX9 | c.686-67G= (n.686-67G=)
| |
17 | g.72123476G>T | CA2733945939 | SOX9 | c.686-67G>T (n.686-67G>T)
| dbSNP |
17 | g.72123477C>T | CA2639603090 | SOX9 | c.686-66C>T (n.686-66C>T)
| gnomAD v4 |
17 | g.72123478C>A | CA2273926287 | SOX9 | c.686-65C>A (n.686-65C>A)
| dbSNP |
17 | g.72123478C= | CA2273926286 | SOX9 | c.686-65C= (n.686-65C=)
| |
17 | g.72123478C>G | CA2639603091 | SOX9 | c.686-65C>G (n.686-65C>G)
| dbSNP gnomAD v4 |
17 | g.72123478C>T | CA2639603092 | SOX9 | c.686-65C>T (n.686-65C>T)
| dbSNP gnomAD v4 |
17 | g.72123479T>C | CA627589935 | SOX9 | c.686-64T>C (n.686-64T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123479T= | CA2273926288 | SOX9 | c.686-64T= (n.686-64T=)
| |
17 | g.72123480A>G | CA2734002003 | SOX9 | c.686-63A>G (n.686-63A>G)
| dbSNP |
17 | g.72123480A>T | CA2639603093 | SOX9 | c.686-63A>T (n.686-63A>T)
| dbSNP gnomAD v4 |
17 | g.72123481A>C | CA2734002006 | SOX9 | c.686-62A>C (n.686-62A>C)
| dbSNP |
17 | g.72123481A>G | CA2734002005 | SOX9 | c.686-62A>G (n.686-62A>G)
| dbSNP |
17 | g.72123481A>T | CA2734002004 | SOX9 | c.686-62A>T (n.686-62A>T)
| dbSNP |
17 | g.72123482G>A | CA2734002007 | SOX9 | c.686-61G>A (n.686-61G>A)
| dbSNP |
17 | g.72123482G>C | CA2734002009 | SOX9 | c.686-61G>C (n.686-61G>C)
| dbSNP |
17 | g.72123483A= | CA2273926289 | SOX9 | c.686-60A= (n.686-60A=)
| |
17 | g.72123483A>C | CA2733929917 | SOX9 | c.686-60A>C (n.686-60A>C)
| dbSNP |
17 | g.72123483A>G | CA293783134 | SOX9 | c.686-60A>G (n.686-60A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123483A>T | CA2639603094 | SOX9 | c.686-60A>T (n.686-60A>T)
| dbSNP gnomAD v4 |
17 | g.72123484C>A | CA2639603095 | SOX9 | c.686-59C>A (n.686-59C>A)
| dbSNP gnomAD v4 |
17 | g.72123484C>G | CA2576374506 | SOX9 | c.686-59C>G (n.686-59C>G)
| dbSNP |
17 | g.72123484C>T | CA2734002012 | SOX9 | c.686-59C>T (n.686-59C>T)
| dbSNP |
17 | g.72123485T>A | CA2734002017 | SOX9 | c.686-58T>A (n.686-58T>A)
| dbSNP |
17 | g.72123485T>G | CA2734002040 | SOX9 | c.686-58T>G (n.686-58T>G)
| dbSNP |
17 | g.72123486A= | CA2273926290 | SOX9 | c.686-57A= (n.686-57A=)
| |
17 | g.72123486A>G | CA2273926291 | SOX9 | c.686-57A>G (n.686-57A>G)
| dbSNP gnomAD v4 |
17 | g.72123486A>T | CA2639603096 | SOX9 | c.686-57A>T (n.686-57A>T)
| gnomAD v4 |
17 | g.72123487G>A | CA2734002051 | SOX9 | c.686-56G>A (n.686-56G>A)
| dbSNP |
17 | g.72123487G>T | CA2639603097 | SOX9 | c.686-56G>T (n.686-56G>T)
| dbSNP gnomAD v4 |
17 | g.72123488G>A | CA2733960380 | SOX9 | c.686-55G>A (n.686-55G>A)
| dbSNP |
17 | g.72123488G>C | CA774800544 | SOX9 | c.686-55G>C (n.686-55G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123488G= | CA2273926292 | SOX9 | c.686-55G= (n.686-55G=)
| |
17 | g.72123488G>T | CA2576374507 | SOX9 | c.686-55G>T (n.686-55G>T)
| dbSNP |
17 | g.72123489G>A | CA2733946355 | SOX9 | c.686-54G>A (n.686-54G>A)
| dbSNP |
17 | g.72123489G>C | CA774800545 | SOX9 | c.686-54G>C (n.686-54G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123489G= | CA2273926293 | SOX9 | c.686-54G= (n.686-54G=)
| |
17 | g.72123489G>T | CA2733946354 | SOX9 | c.686-54G>T (n.686-54G>T)
| dbSNP |
17 | g.72123491_72123496del | CA2639603098 | SOX9 | c.686-52_686-47del (n.686-52_686-47del)
| gnomAD v4 |
17 | g.72123490C>A | CA2734002077 | SOX9 | c.686-53C>A (n.686-53C>A)
| dbSNP |
17 | g.72123490C>G | CA2734002104 | SOX9 | c.686-53C>G (n.686-53C>G)
| dbSNP |
17 | g.72123490C>T | CA2576374508 | SOX9 | c.686-53C>T (n.686-53C>T)
| dbSNP gnomAD v4 |
17 | g.72123491G>A | CA2273926295 | SOX9 | c.686-52G>A (n.686-52G>A)
| dbSNP gnomAD v4 |
17 | g.72123491G>C | CA2733970658 | SOX9 | c.686-52G>C (n.686-52G>C)
| dbSNP |
17 | g.72123491G= | CA2273926294 | SOX9 | c.686-52G= (n.686-52G=)
| |
17 | g.72123492T>A | CA2733970660 | SOX9 | c.686-51T>A (n.686-51T>A)
| dbSNP |
17 | g.72123492T>C | CA2273926297 | SOX9 | c.686-51T>C (n.686-51T>C)
| dbSNP gnomAD v4 |
17 | g.72123492T>G | CA2733970662 | SOX9 | c.686-51T>G (n.686-51T>G)
| dbSNP |
17 | g.72123492T= | CA2273926296 | SOX9 | c.686-51T= (n.686-51T=)
| |
17 | g.72123493C>A | CA2733948977 | SOX9 | c.686-50C>A (n.686-50C>A)
| dbSNP |
17 | g.72123493C= | CA2273926298 | SOX9 | c.686-50C= (n.686-50C=)
| |
17 | g.72123493C>G | CA2733948976 | SOX9 | c.686-50C>G (n.686-50C>G)
| dbSNP |
17 | g.72123493C>T | CA627589953 | SOX9 | c.686-50C>T (n.686-50C>T)
| dbSNP gnomAD v2 |
17 | g.72123494T>C | CA2734002124 | SOX9 | c.686-49T>C (n.686-49T>C)
| dbSNP |
17 | g.72123495G>A | CA2734002167 | SOX9 | c.686-48G>A (n.686-48G>A)
| dbSNP |
17 | g.72123495G>C | CA2734002136 | SOX9 | c.686-48G>C (n.686-48G>C)
| dbSNP |
17 | g.72123495G>T | CA2565689027 | SOX9 | c.686-48G>T (n.686-48G>T)
| |
17 | g.72123496C>A | CA2733951208 | SOX9 | c.686-47C>A (n.686-47C>A)
| dbSNP |
17 | g.72123496C= | CA2273926299 | SOX9 | c.686-47C= (n.686-47C=)
| |
17 | g.72123496C>G | CA2733951206 | SOX9 | c.686-47C>G (n.686-47C>G)
| dbSNP |
17 | g.72123496C>T | CA627589955 | SOX9 | c.686-47C>T (n.686-47C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123497A= | CA2273926300 | SOX9 | c.686-46A= (n.686-46A=)
| |
17 | g.72123497A>C | CA2733933179 | SOX9 | c.686-46A>C (n.686-46A>C)
| dbSNP |
17 | g.72123497A>G | CA2733933178 | SOX9 | c.686-46A>G (n.686-46A>G)
| dbSNP |
17 | g.72123497A>T | CA8738998 | SOX9 | c.686-46A>T (n.686-46A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123498C>G | CA2734002183 | SOX9 | c.686-45C>G (n.686-45C>G)
| dbSNP |
17 | g.72123498C>T | CA2734002172 | SOX9 | c.686-45C>T (n.686-45C>T)
| dbSNP |
17 | g.72123499A>C | CA2576374509 | SOX9 | c.686-44A>C (n.686-44A>C)
| gnomAD v4 |
17 | g.72123499A>G | CA2734002205 | SOX9 | c.686-44A>G (n.686-44A>G)
| dbSNP |
17 | g.72123499A>T | CA2734002195 | SOX9 | c.686-44A>T (n.686-44A>T)
| dbSNP |
17 | g.72123500G>A | CA8738999 | SOX9 | c.686-43G>A (n.686-43G>A)
| dbSNP ExAC |
17 | g.72123500G= | CA2273926301 | SOX9 | c.686-43G= (n.686-43G=)
| |
17 | g.72123501C= | CA2273926302 | SOX9 | c.686-42C= (n.686-42C=)
| |
17 | g.72123501C>G | CA627589956 | SOX9 | c.686-42C>G (n.686-42C>G)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123501C>T | CA8739000 | SOX9 | c.686-42C>T (n.686-42C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123502C>A | CA2733932133 | SOX9 | c.686-41C>A (n.686-41C>A)
| dbSNP |
17 | g.72123502C= | CA2273926303 | SOX9 | c.686-41C= (n.686-41C=)
| |
17 | g.72123502C>G | CA2733932132 | SOX9 | c.686-41C>G (n.686-41C>G)
| dbSNP |
17 | g.72123502C>T | CA8739001 | SOX9 | c.686-41C>T (n.686-41C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123503C>A | CA2734002324 | SOX9 | c.686-40C>A (n.686-40C>A)
| dbSNP |
17 | g.72123503C>G | CA2734002313 | SOX9 | c.686-40C>G (n.686-40C>G)
| dbSNP |
17 | g.72123503C>T | CA2639603099 | SOX9 | c.686-40C>T (n.686-40C>T)
| dbSNP gnomAD v4 |
17 | g.72123504T>A | CA2734002339 | SOX9 | c.686-39T>A (n.686-39T>A)
| dbSNP |
17 | g.72123505T>A | CA2734002361 | SOX9 | c.686-38T>A (n.686-38T>A)
| dbSNP |
17 | g.72123505T>C | CA2734002360 | SOX9 | c.686-38T>C (n.686-38T>C)
| dbSNP |
17 | g.72123505T>G | CA2734002342 | SOX9 | c.686-38T>G (n.686-38T>G)
| dbSNP |
17 | g.72123506G>A | CA2734002373 | SOX9 | c.686-37G>A (n.686-37G>A)
| dbSNP |
17 | g.72123506G>C | CA2734002442 | SOX9 | c.686-37G>C (n.686-37G>C)
| dbSNP |
17 | g.72123506G>T | CA2566398368 | SOX9 | c.686-37G>T (n.686-37G>T)
| dbSNP |
17 | g.72123507T>A | CA2733932496 | SOX9 | c.686-36T>A (n.686-36T>A)
| dbSNP |
17 | g.72123507T>C | CA8739002 | SOX9 | c.686-36T>C (n.686-36T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123507T>G | CA2733932497 | SOX9 | c.686-36T>G (n.686-36T>G)
| dbSNP |
17 | g.72123507T= | CA2273926304 | SOX9 | c.686-36T= (n.686-36T=)
| |
17 | g.72123508T>A | CA2273926305 | SOX9 | c.686-35T>A (n.686-35T>A)
| dbSNP |
17 | g.72123508T>C | CA8739003 | SOX9 | c.686-35T>C (n.686-35T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123508T= | CA2273926306 | SOX9 | c.686-35T= (n.686-35T=)
| |
17 | g.72123509G>A | CA627589957 | SOX9 | c.686-34G>A (n.686-34G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123509G>C | CA2733956195 | SOX9 | c.686-34G>C (n.686-34G>C)
| dbSNP |
17 | g.72123509G= | CA2273926307 | SOX9 | c.686-34G= (n.686-34G=)
| |
17 | g.72123509G>T | CA2733956196 | SOX9 | c.686-34G>T (n.686-34G>T)
| dbSNP |
17 | g.72123510_72123511insACA | CA2639603100 | SOX9 | c.686-33_686-32insACA (n.686-33_686-32insACA)
| gnomAD v4 |
17 | g.72123511T>A | CA2733970665 | SOX9 | c.686-32T>A (n.686-32T>A)
| dbSNP |
17 | g.72123511T>C | CA2639603102 | SOX9 | c.686-32T>C (n.686-32T>C)
| dbSNP gnomAD v4 |
17 | g.72123511T>G | CA2273926309 | SOX9 | c.686-32T>G (n.686-32T>G)
| dbSNP |
17 | g.72123511T= | CA2273926308 | SOX9 | c.686-32T= (n.686-32T=)
| |
17 | g.72123514dup | CA2639603101 | SOX9 | c.686-29dup (n.686-29dup)
| gnomAD v4 |
17 | g.72123514del | CA2576374510 | SOX9 | c.686-29del (n.686-29del)
| |
17 | g.72123512T>A | CA2734002445 | SOX9 | c.686-31T>A (n.686-31T>A)
| dbSNP |
17 | g.72123513T>G | CA8739004 | SOX9 | c.686-30T>G (n.686-30T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123513T= | CA2273926310 | SOX9 | c.686-30T= (n.686-30T=)
| |
17 | g.72123514T>C | CA2733939624 | SOX9 | c.686-29T>C (n.686-29T>C)
| dbSNP |
17 | g.72123514T>G | CA293783195 | SOX9 | c.686-29T>G (n.686-29T>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123514T= | CA2273926311 | SOX9 | c.686-29T= (n.686-29T=)
| |
17 | g.72123516T>C | CA2639603103 | SOX9 | c.686-27T>C (n.686-27T>C)
| gnomAD v4 |
17 | g.72123517C>A | CA2733962506 | SOX9 | c.686-26C>A (n.686-26C>A)
| dbSNP |
17 | g.72123517C= | CA2273926312 | SOX9 | c.686-26C= (n.686-26C=)
| |
17 | g.72123517C>G | CA2733962505 | SOX9 | c.686-26C>G (n.686-26C>G)
| dbSNP |
17 | g.72123517C>T | CA627589958 | SOX9 | c.686-26C>T (n.686-26C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123518G>A | CA2733960382 | SOX9 | c.686-25G>A (n.686-25G>A)
| dbSNP |
17 | g.72123518G>C | CA774800564 | SOX9 | c.686-25G>C (n.686-25G>C)
| dbSNP gnomAD v4 |
17 | g.72123518G= | CA2273926313 | SOX9 | c.686-25G= (n.686-25G=)
| |
17 | g.72123518G>T | CA2733960381 | SOX9 | c.686-25G>T (n.686-25G>T)
| dbSNP |
17 | g.72123519T>A | CA2734002449 | SOX9 | c.686-24T>A (n.686-24T>A)
| dbSNP |
17 | g.72123519T>C | CA2734002455 | SOX9 | c.686-24T>C (n.686-24T>C)
| dbSNP |
17 | g.72123519T>G | CA2734002447 | SOX9 | c.686-24T>G (n.686-24T>G)
| dbSNP |
17 | g.72123520G>A | CA2734002491 | SOX9 | c.686-23G>A (n.686-23G>A)
| dbSNP |
17 | g.72123520G>C | CA2734002483 | SOX9 | c.686-23G>C (n.686-23G>C)
| dbSNP |
17 | g.72123520G>T | CA2639603104 | SOX9 | c.686-23G>T (n.686-23G>T)
| dbSNP gnomAD v4 |
17 | g.72123521C= | CA2273926314 | SOX9 | c.686-22C= (n.686-22C=)
| |
17 | g.72123521C>G | CA2733970666 | SOX9 | c.686-22C>G (n.686-22C>G)
| dbSNP |
17 | g.72123521C>T | CA986080558 | SOX9 | c.686-22C>T (n.686-22C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123522T>A | CA986080563 | SOX9 | c.686-21T>A (n.686-21T>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123522T>C | CA2733932134 | SOX9 | c.686-21T>C (n.686-21T>C)
| dbSNP |
17 | g.72123522T>G | CA8739005 | SOX9 | c.686-21T>G (n.686-21T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123522T= | CA2273926315 | SOX9 | c.686-21T= (n.686-21T=)
| |
17 | g.72123523T>A | CA2734002493 | SOX9 | c.686-20T>A (n.686-20T>A)
| dbSNP |
17 | g.72123523T>C | CA2639603105 | SOX9 | c.686-20T>C (n.686-20T>C)
| dbSNP gnomAD v4 |
17 | g.72123524G>A | CA2639603106 | SOX9 | c.686-19G>A (n.686-19G>A)
| gnomAD v4 |
17 | g.72123524G>C | CA774800567 | SOX9 | c.686-19G>C (n.686-19G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123524G= | CA2273926316 | SOX9 | c.686-19G= (n.686-19G=)
| |
17 | g.72123524G>T | CA2639603107 | SOX9 | c.686-19G>T (n.686-19G>T)
| gnomAD v4 |
17 | g.72123525T>A | CA2734002600 | SOX9 | c.686-18T>A (n.686-18T>A)
| dbSNP |
17 | g.72123525T>C | CA2597776566 | SOX9 | c.686-18T>C (n.686-18T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123525T>G | CA2734002579 | SOX9 | c.686-18T>G (n.686-18T>G)
| dbSNP |
17 | g.72123526T>C | CA2734002603 | SOX9 | c.686-17T>C (n.686-17T>C)
| dbSNP |
17 | g.72123527C>A | CA774800573 | SOX9 | c.686-16C>A (n.686-16C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123527C= | CA2273926317 | SOX9 | c.686-16C= (n.686-16C=)
| |
17 | g.72123527C>G | CA2273926318 | SOX9 | c.686-16C>G (n.686-16C>G)
| dbSNP |
17 | g.72123527C>T | CA627589960 | SOX9 | c.686-16C>T (n.686-16C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123528T>A | CA2733961212 | SOX9 | c.686-15T>A (n.686-15T>A)
| dbSNP |
17 | g.72123528T>C | CA627589961 | SOX9 | c.686-15T>C (n.686-15T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123528T>G | CA2576374511 | SOX9 | c.686-15T>G (n.686-15T>G)
| |
17 | g.72123528T= | CA2273926319 | SOX9 | c.686-15T= (n.686-15T=)
| |
17 | g.72123529T>C | CA2734002607 | SOX9 | c.686-14T>C (n.686-14T>C)
| dbSNP |
17 | g.72123529_72123532delinsTTTA | CA2273926320 | SOX9 | c.686-14_686-11delinsTTTA (n.686-14_686-11delinsTTTA)
| |
17 | g.72123530T>A | CA2733953642 | SOX9 | c.686-13T>A (n.686-13T>A)
| dbSNP |
17 | g.72123530T>C | CA627589962 | SOX9 | c.686-13T>C (n.686-13T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123530T= | CA2273926321 | SOX9 | c.686-13T= (n.686-13T=)
| |
17 | g.72123532_72123534del | CA2273926322 | SOX9 | c.686-11_686-9del (n.686-11_686-9del)
| dbSNP |
17 | g.72123532A>C | CA2734002617 | SOX9 | c.686-11A>C (n.686-11A>C)
| dbSNP |
17 | g.72123533T>C | CA8739006 | SOX9 | c.686-10T>C (n.686-10T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123533T= | CA2273926323 | SOX9 | c.686-10T= (n.686-10T=)
| |
17 | g.72123534T>C | CA8739008 | SOX9 | c.686-9T>C (n.686-9T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123534T>G | CA2576374512 | SOX9 | c.686-9T>G (n.686-9T>G)
| |
17 | g.72123534T= | CA2273926324 | SOX9 | c.686-9T= (n.686-9T=)
| |
17 | g.72123534_72123535delinsTG | CA2273926325 | SOX9 | c.686-9_686-8delinsTG (n.686-9_686-8delinsTG)
| |
17 | g.72123535del | CA8739007 | SOX9 | c.686-8del (n.686-8del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123535G>A | CA2273926327 | SOX9 | c.686-8G>A (n.686-8G>A)
| dbSNP |
17 | g.72123535G>C | CA2733970668 | SOX9 | c.686-8G>C (n.686-8G>C)
| dbSNP |
17 | g.72123535G= | CA2273926326 | SOX9 | c.686-8G= (n.686-8G=)
| |
17 | g.72123536del | CA400866828 | SOX9 | c.686-7del (n.686-7del)
| |
17 | g.72123536T>C | CA2273926329 | SOX9 | c.686-7T>C (n.686-7T>C)
| dbSNP |
17 | g.72123536T= | CA2273926328 | SOX9 | c.686-7T= (n.686-7T=)
| |
17 | g.72123537C>T | CA2639603108 | SOX9 | c.686-6C>T (n.686-6C>T)
| gnomAD v4 |
17 | g.72123538C>T | CA2639603110 | SOX9 | c.686-5C>T (n.686-5C>T)
| dbSNP gnomAD v4 |
17 | g.72123540_72123541del | CA2639603109 | SOX9 | c.686-3_686-2del (n.686-3_686-2del)
| gnomAD v4 |
17 | g.72123539A>C | CA2734002652 | SOX9 | c.686-4A>C (n.686-4A>C)
| dbSNP |
17 | g.72123539A>G | CA2639603111 | SOX9 | c.686-4A>G (n.686-4A>G)
| dbSNP gnomAD v4 |
17 | g.72123539A>T | CA2734002679 | SOX9 | c.686-4A>T (n.686-4A>T)
| dbSNP |
17 | g.72123540C>A | CA2733970669 | SOX9 | c.686-3C>A (n.686-3C>A)
| dbSNP |
17 | g.72123540C= | CA2273926330 | SOX9 | c.686-3C= (n.686-3C=)
| |
17 | g.72123540C>G | CA2733970670 | SOX9 | c.686-3C>G (n.686-3C>G)
| dbSNP |
17 | g.72123540C>T | CA2273926331 | SOX9 | c.686-3C>T (n.686-3C>T)
| ClinVar dbSNP |
17 | g.72123541A>C | CA400866829 | SOX9 | c.686-2A>C (n.686-2A>C)
| |
17 | g.72123541A>G | CA400866830 | SOX9 | c.686-2A>G (n.686-2A>G)
| ClinVar dbSNP |
17 | g.72123541A>T | CA400866831 | SOX9 | c.686-2A>T (n.686-2A>T)
| dbSNP |
17 | g.72123542G>A | CA400866832 | SOX9 | c.686-1G>A (n.686-1G>A)
| dbSNP |
17 | g.72123542G>C | CA400866834 | SOX9 | c.686-1G>C (n.686-1G>C)
| dbSNP |
17 | g.72123542G>T | CA400866833 | SOX9 | c.686-1G>T (n.686-1G>T)
| dbSNP |
17 | g.72123543G>A | CA400866835 | SOX9 | c.686G>A (p.Gly229Glu)
| dbSNP |
17 | g.72123543G>C | CA400866836 | SOX9 | c.686G>C (p.Gly229Ala)
| dbSNP |
17 | g.72123543G>T | CA400866837 | SOX9 | c.686G>T (p.Gly229Val)
| dbSNP |
17 | g.72123544G>A | CA8739009 | SOX9 | c.687G>A (p.Gly229=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123544G>C | CA501351955 | SOX9 | c.687G>C (p.Gly229=)
| dbSNP |
17 | g.72123544G= | CA2273926332 | SOX9 | c.687G= (p.Gly229=)
| |
17 | g.72123544G>T | CA501351956 | SOX9 | c.687G>T (p.Gly229=)
| dbSNP |
17 | g.72123544_72123563dup | CA645598912 | SOX9 | c.687_706dup (p.Thr236SerfsTer24)
| COSMIC |
17 | g.72123545C>A | CA400866838 | SOX9 | c.688C>A (p.Gln230Lys)
| dbSNP |
17 | g.72123545C>G | CA400866839 | SOX9 | c.688C>G (p.Gln230Glu)
| dbSNP |
17 | g.72123545C>T | CA400866840 | SOX9 | c.688C>T (p.Gln230Ter)
| dbSNP |
17 | g.72123546A>C | CA400866841 | SOX9 | c.689A>C (p.Gln230Pro)
| |
17 | g.72123546A>G | CA400866842 | SOX9 | c.689A>G (p.Gln230Arg)
| dbSNP |
17 | g.72123546A>T | CA400866843 | SOX9 | c.689A>T (p.Gln230Leu)
| |
17 | g.72123547A= | CA2273926333 | SOX9 | c.690A= (p.Gln230=)
| |
17 | g.72123547A>C | CA400866844 | SOX9 | c.690A>C (p.Gln230His)
| dbSNP |
17 | g.72123547A>G | CA501351957 | SOX9 | c.690A>G (p.Gln230=)
| dbSNP |
17 | g.72123547A>T | CA400866845 | SOX9 | c.690A>T (p.Gln230His)
| dbSNP |
17 | g.72123548T>A | CA400866848 | SOX9 | c.691T>A (p.Ser231Thr)
| |
17 | g.72123548T>C | CA400866846 | SOX9 | c.691T>C (p.Ser231Pro)
| |
17 | g.72123548T>G | CA400866847 | SOX9 | c.691T>G (p.Ser231Ala)
| dbSNP |
17 | g.72123549C>A | CA400866849 | SOX9 | c.692C>A (p.Ser231Tyr)
| dbSNP |
17 | g.72123549C>G | CA400866850 | SOX9 | c.692C>G (p.Ser231Cys)
| dbSNP |
17 | g.72123549C>T | CA400866851 | SOX9 | c.692C>T (p.Ser231Phe)
| dbSNP |
17 | g.72123550C>A | CA501351958 | SOX9 | c.693C>A (p.Ser231=)
| COSMIC |
17 | g.72123550C>G | CA501351959 | SOX9 | c.693C>G (p.Ser231=)
| |
17 | g.72123550C>T | CA501351960 | SOX9 | c.693C>T (p.Ser231=)
| gnomAD v4 |
17 | g.72123551C>A | CA400866852 | SOX9 | c.694C>A (p.Gln232Lys)
| dbSNP |
17 | g.72123551C>G | CA400866853 | SOX9 | c.694C>G (p.Gln232Glu)
| dbSNP |
17 | g.72123551C>T | CA400866854 | SOX9 | c.694C>T (p.Gln232Ter)
| dbSNP |
17 | g.72123552A>C | CA400866857 | SOX9 | c.695A>C (p.Gln232Pro)
| dbSNP |
17 | g.72123552A>G | CA400866855 | SOX9 | c.695A>G (p.Gln232Arg)
| dbSNP |
17 | g.72123552A>T | CA400866856 | SOX9 | c.695A>T (p.Gln232Leu)
| dbSNP gnomAD v4 |
17 | g.72123553G>A | CA501351961 | SOX9 | c.696G>A (p.Gln232=)
| dbSNP gnomAD v4 |
17 | g.72123553G>C | CA293783235 | SOX9 | c.696G>C (p.Gln232His)
| dbSNP |
17 | g.72123553G= | CA2273926334 | SOX9 | c.696G= (p.Gln232=)
| |
17 | g.72123553G>T | CA400866858 | SOX9 | c.696G>T (p.Gln232His)
| dbSNP |
17 | g.72123554G>A | CA400866859 | SOX9 | c.697G>A (p.Gly233Ser)
| dbSNP |
17 | g.72123554G>C | CA400866860 | SOX9 | c.697G>C (p.Gly233Arg)
| dbSNP |
17 | g.72123554G>T | CA400866861 | SOX9 | c.697G>T (p.Gly233Cys)
| dbSNP |
17 | g.72123555G>A | CA400866864 | SOX9 | c.698G>A (p.Gly233Asp)
| dbSNP |
17 | g.72123555G>C | CA400866862 | SOX9 | c.698G>C (p.Gly233Ala)
| dbSNP |
17 | g.72123555G>T | CA400866863 | SOX9 | c.698G>T (p.Gly233Val)
| dbSNP |
17 | g.72123556C>A | CA501351962 | SOX9 | c.699C>A (p.Gly233=)
| dbSNP |
17 | g.72123556C>G | CA501351963 | SOX9 | c.699C>G (p.Gly233=)
| dbSNP |
17 | g.72123556C>T | CA501351964 | SOX9 | c.699C>T (p.Gly233=)
| dbSNP |
17 | g.72123557_72123558dup | CA645598913 | SOX9 | c.700_701dup (p.Pro235HisfsTer19)
| COSMIC |
17 | g.72123557C>A | CA400866865 | SOX9 | c.700C>A (p.Pro234Thr)
| dbSNP |
17 | g.72123557C>G | CA400866866 | SOX9 | c.700C>G (p.Pro234Ala)
| dbSNP gnomAD v4 |
17 | g.72123557C>T | CA400866867 | SOX9 | c.700C>T (p.Pro234Ser)
| dbSNP |
17 | g.72123558C>A | CA400866868 | SOX9 | c.701C>A (p.Pro234Gln)
| dbSNP |
17 | g.72123558C>G | CA400866869 | SOX9 | c.701C>G (p.Pro234Arg)
| dbSNP |
17 | g.72123558C>T | CA400866870 | SOX9 | c.701C>T (p.Pro234Leu)
| dbSNP |
17 | g.72123559A= | CA2273926335 | SOX9 | c.702A= (p.Pro234=)
| |
17 | g.72123559A>C | CA501351965 | SOX9 | c.702A>C (p.Pro234=)
| dbSNP |
17 | g.72123559A>G | CA501351966 | SOX9 | c.702A>G (p.Pro234=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123559A>T | CA501351967 | SOX9 | c.702A>T (p.Pro234=)
| dbSNP |
17 | g.72123560C>A | CA400866871 | SOX9 | c.703C>A (p.Pro235Thr)
| |
17 | g.72123560C>G | CA400866872 | SOX9 | c.703C>G (p.Pro235Ala)
| dbSNP COSMIC |
17 | g.72123560C>T | CA400866873 | SOX9 | c.703C>T (p.Pro235Ser)
| dbSNP |
17 | g.72123561C>A | CA293783242 | SOX9 | c.704C>A (p.Pro235Gln)
| dbSNP |
17 | g.72123561C= | CA2273926336 | SOX9 | c.704C= (p.Pro235=)
| |
17 | g.72123561C>G | CA400866874 | SOX9 | c.704C>G (p.Pro235Arg)
| dbSNP |
17 | g.72123561C>T | CA400866875 | SOX9 | c.704C>T (p.Pro235Leu)
| ClinVar dbSNP |
17 | g.72123562G>A | CA501351968 | SOX9 | c.705G>A (p.Pro235=)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123562G>C | CA501351970 | SOX9 | c.705G>C (p.Pro235=)
| dbSNP |
17 | g.72123562G>T | CA501351969 | SOX9 | c.705G>T (p.Pro235=)
| dbSNP |
17 | g.72123562dup | CA2759522132 | SOX9 | c.705dup (p.Thr236AspfsTer16)
| |
17 | g.72123562_72123563del | CA2497030132 | SOX9 | c.705_706del (p.Thr236ProfsTer15)
| |
17 | g.72123562_72123563insC | CA2573050687 | SOX9 | c.705_706insC (p.Thr236HisfsTer16)
| dbSNP |
17 | g.72123562_72123563insCC | CA2573320478 | SOX9 | c.705_706insCC (p.Thr236ProfsTer18)
| |
17 | g.72123562_72123563insCCCCCCCCCCCC | CA2573130126 | SOX9 | c.705_706insCCCCCCCCCCCC (p.Pro235_Thr236insProProProPro)
| |
17 | g.72123563A>C | CA400866876 | SOX9 | c.706A>C (p.Thr236Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123563A>G | CA400866878 | SOX9 | c.706A>G (p.Thr236Ala)
| dbSNP |
17 | g.72123563A>T | CA400866877 | SOX9 | c.706A>T (p.Thr236Ser)
| dbSNP |
17 | g.72123563_72123564delinsAC | CA2273926337 | SOX9 | c.706_707delinsAC (p.Thr236=)
| |
17 | g.72123564C>A | CA400866879 | SOX9 | c.707C>A (p.Thr236Asn)
| gnomAD v4 |
17 | g.72123564C>G | CA400866881 | SOX9 | c.707C>G (p.Thr236Ser)
| |
17 | g.72123564C>T | CA400866880 | SOX9 | c.707C>T (p.Thr236Ile)
| |
17 | g.72123567_72123568insCCCCCCCC | CA2639603113 | SOX9 | c.710_711insCCCCCCCC (p.Thr239ProfsTer17)
| gnomAD v4 |
17 | g.72123567_72123568insCCCCCCCCC | CA2810344952 | SOX9 | c.710_711insCCCCCCCCC (p.Pro237_Pro238insProProPro)
| |
17 | g.72123567_72123568insCCCCCCCCCC | CA2639603114 | SOX9 | c.710_711insCCCCCCCCCC (p.Thr239ProfsTer16)
| gnomAD v4 |
17 | g.72123567dup | CA627589965 | SOX9 | c.710dup (p.Pro238ThrfsTer14)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123566_72123567dup | CA627589966 | SOX9 | c.709_710dup (p.Pro238HisfsTer16)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123565_72123567dup | CA2579753818 | SOX9 | c.708_710dup (p.Pro237_Pro238insPro)
| gnomAD v4 |
17 | g.72123564_72123567dup | CA2639603112 | SOX9 | c.707_710dup (p.Thr240HisfsTer13)
| gnomAD v4 |
17 | g.72123567del | CA2273926338 | SOX9 | c.710del (p.Pro237HisfsTer16)
| ClinVar dbSNP |
17 | g.72123565C>A | CA501351973 | SOX9 | c.708C>A (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123565C>G | CA501351972 | SOX9 | c.708C>G (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123565C>T | CA501351971 | SOX9 | c.708C>T (p.Thr236=)
| dbSNP gnomAD v4 |
17 | g.72123571_72123574del | CA2639603115 | SOX9 | c.714_717del (p.Thr239ProfsTer13)
| gnomAD v4 |
17 | g.72123566C>A | CA400866882 | SOX9 | c.709C>A (p.Pro237Thr)
| dbSNP |
17 | g.72123566C>G | CA400866883 | SOX9 | c.709C>G (p.Pro237Ala)
| dbSNP |
17 | g.72123566C>T | CA400866884 | SOX9 | c.709C>T (p.Pro237Ser)
| dbSNP |
17 | g.72123567C>A | CA400866885 | SOX9 | c.710C>A (p.Pro237Gln)
| dbSNP |
17 | g.72123567C>G | CA400866886 | SOX9 | c.710C>G (p.Pro237Arg)
| dbSNP |
17 | g.72123567C>T | CA400866887 | SOX9 | c.710C>T (p.Pro237Leu)
| dbSNP |
17 | g.72123568A= | CA2273926339 | SOX9 | c.711A= (p.Pro237=)
| |
17 | g.72123568A>C | CA501351974 | SOX9 | c.711A>C (p.Pro237=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123568A>G | CA501351976 | SOX9 | c.711A>G (p.Pro237=)
| |
17 | g.72123568A>T | CA501351975 | SOX9 | c.711A>T (p.Pro237=)
| |
17 | g.72123569C>A | CA400866888 | SOX9 | c.712C>A (p.Pro238Thr)
| dbSNP |
17 | g.72123569C= | CA2273926340 | SOX9 | c.712C= (p.Pro238=)
| |
17 | g.72123569C>G | CA400866889 | SOX9 | c.712C>G (p.Pro238Ala)
| dbSNP gnomAD v2 |
17 | g.72123569C>T | CA400866890 | SOX9 | c.712C>T (p.Pro238Ser)
| dbSNP |
17 | g.72123571dup | CA986080591 | SOX9 | c.714dup (p.Thr239HisfsTer13)
| gnomAD v3 gnomAD v4 |
17 | g.72123570_72123571dup | CA2639603116 | SOX9 | c.713_714dup (p.Thr239ProfsTer15)
| gnomAD v4 |
17 | g.72123570C>A | CA400866891 | SOX9 | c.713C>A (p.Pro238His)
| dbSNP |
17 | g.72123570C>G | CA400866892 | SOX9 | c.713C>G (p.Pro238Arg)
| |
17 | g.72123570C>T | CA400866893 | SOX9 | c.713C>T (p.Pro238Leu)
| dbSNP |
17 | g.72123571C>A | CA501351977 | SOX9 | c.714C>A (p.Pro238=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123571C= | CA2273926341 | SOX9 | c.714C= (p.Pro238=)
| |
17 | g.72123571C>G | CA293783248 | SOX9 | c.714C>G (p.Pro238=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123571C>T | CA501351978 | SOX9 | c.714C>T (p.Pro238=)
| |
17 | g.72123571_72123572insCCCCCCCCCCAA | CA2639603117 | SOX9 | c.714_715insCCCCCCCCCCAA (p.Pro238_Thr239insProProProGln)
| gnomAD v4 |
17 | g.72123571_72123572insCCCCCCCCCCCA | CA2499306824 | SOX9 | c.714_715insCCCCCCCCCCCA (p.Pro238_Thr239insProProProPro)
| |
17 | g.72123572A= | CA2273926342 | SOX9 | c.715A= (p.Thr239=)
| |
17 | g.72123572A>C | CA400866894 | SOX9 | c.715A>C (p.Thr239Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123572A>G | CA400866896 | SOX9 | c.715A>G (p.Thr239Ala)
| |
17 | g.72123572A>T | CA400866895 | SOX9 | c.715A>T (p.Thr239Ser)
| dbSNP |
17 | g.72123572dup | CA2695226895 | SOX9 | c.715dup (p.Thr239AsnfsTer13)
| |
17 | g.72123572_72123575del | CA986080596 | SOX9 | c.715_718del (p.Thr239ProfsTer13)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123572_72123573insAAC | CA2639603118 | SOX9 | c.715_716insAAC (p.Thr239delinsLysPro)
| gnomAD v4 |
17 | g.72123573C>A | CA400866897 | SOX9 | c.716C>A (p.Thr239Asn)
| dbSNP |
17 | g.72123573C>G | CA400866898 | SOX9 | c.716C>G (p.Thr239Ser)
| dbSNP |
17 | g.72123573C>T | CA400866899 | SOX9 | c.716C>T (p.Thr239Ile)
| dbSNP |
17 | g.72123574dup | CA986080599 | SOX9 | c.717dup (p.Thr240HisfsTer12)
| gnomAD v3 gnomAD v4 |
17 | g.72123574C>A | CA501351980 | SOX9 | c.717C>A (p.Thr239=)
| dbSNP |
17 | g.72123574C= | CA2273926343 | SOX9 | c.717C= (p.Thr239=)
| |
17 | g.72123574C>G | CA501351982 | SOX9 | c.717C>G (p.Thr239=)
| dbSNP |
17 | g.72123574C>T | CA8739010 | SOX9 | c.717C>T (p.Thr239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |