SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.72123707_72123715dup | CA891842301 | SOX9 | c.850_858dup (p.Ile286_Glu287insSerAsnIle) | |
| 17 | g.72123705T>A | CA400867172 | SOX9 | c.848T>A (p.Ile283Asn) | dbSNP |
| 17 | g.72123705T>C | CA400867173 | SOX9 | c.848T>C (p.Ile283Thr) | dbSNP |
| 17 | g.72123705T>G | CA400867174 | SOX9 | c.848T>G (p.Ile283Ser) | dbSNP |
| 17 | g.72123706C>A | CA501352079 | SOX9 | c.849C>A (p.Ile283=) | dbSNP |
| 17 | g.72123706C= | CA2273926406 | SOX9 | c.849C= (p.Ile283=) | |
| 17 | g.72123706C>G | CA400867175 | SOX9 | c.849C>G (p.Ile283Met) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123706C>T | CA501352080 | SOX9 | c.849C>T (p.Ile283=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123707T>A | CA400867176 | SOX9 | c.850T>A (p.Ser284Thr) | |
| 17 | g.72123707T>C | CA400867177 | SOX9 | c.850T>C (p.Ser284Pro) | gnomAD v4 |
| 17 | g.72123707T>G | CA400867178 | SOX9 | c.850T>G (p.Ser284Ala) | gnomAD v4 |
| 17 | g.72123708C>A | CA400867181 | SOX9 | c.851C>A (p.Ser284Tyr) | dbSNP |
| 17 | g.72123708C>G | CA400867179 | SOX9 | c.851C>G (p.Ser284Cys) | dbSNP |
| 17 | g.72123708C>T | CA400867180 | SOX9 | c.851C>T (p.Ser284Phe) | dbSNP COSMIC |
| 17 | g.72123709C>A | CA501352081 | SOX9 | c.852C>A (p.Ser284=) | |
| 17 | g.72123709C>G | CA501352082 | SOX9 | c.852C>G (p.Ser284=) | |
| 17 | g.72123709C>T | CA501352083 | SOX9 | c.852C>T (p.Ser284=) | |
| 17 | g.72123710A>C | CA400867182 | SOX9 | c.853A>C (p.Asn285His) | dbSNP |
| 17 | g.72123710A>G | CA400867184 | SOX9 | c.853A>G (p.Asn285Asp) | dbSNP |
| 17 | g.72123710A>T | CA400867185 | SOX9 | c.853A>T (p.Asn285Tyr) | dbSNP |
| 17 | g.72123711dup | CA2734004602 | SOX9 | c.854dup (p.Asn285LysfsTer11) | dbSNP |
| 17 | g.72123711A= | CA2273926407 | SOX9 | c.854A= (p.Asn285=) | |
| 17 | g.72123711A>C | CA400867186 | SOX9 | c.854A>C (p.Asn285Thr) | dbSNP |
| 17 | g.72123711A>G | CA400867187 | SOX9 | c.854A>G (p.Asn285Ser) | dbSNP gnomAD v4 |
| 17 | g.72123711A>T | CA400867188 | SOX9 | c.854A>T (p.Asn285Ile) | dbSNP |
| 17 | g.72123712C>A | CA400867189 | SOX9 | c.855C>A (p.Asn285Lys) | dbSNP |
| 17 | g.72123712C>G | CA400867190 | SOX9 | c.855C>G (p.Asn285Lys) | dbSNP |
| 17 | g.72123712C>T | CA501352084 | SOX9 | c.855C>T (p.Asn285=) | dbSNP |
| 17 | g.72123712_72123715dup | CA923726100 | SOX9 | c.855_858dup (p.Glu287HisfsTer10) | ClinVar dbSNP |
| 17 | g.72123713A>C | CA400867191 | SOX9 | c.856A>C (p.Ile286Leu) | dbSNP |
| 17 | g.72123713A>G | CA400867192 | SOX9 | c.856A>G (p.Ile286Val) | dbSNP |
| 17 | g.72123713A>T | CA400867193 | SOX9 | c.856A>T (p.Ile286Phe) | dbSNP |
| 17 | g.72123714T>A | CA400867196 | SOX9 | c.857T>A (p.Ile286Asn) | dbSNP |
| 17 | g.72123714T>C | CA400867195 | SOX9 | c.857T>C (p.Ile286Thr) | dbSNP |
| 17 | g.72123714T>G | CA400867194 | SOX9 | c.857T>G (p.Ile286Ser) | |
| 17 | g.72123715C>A | CA8739039 | SOX9 | c.858C>A (p.Ile286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123715C= | CA2273926408 | SOX9 | c.858C= (p.Ile286=) | |
| 17 | g.72123715C>G | CA400867197 | SOX9 | c.858C>G (p.Ile286Met) | dbSNP |
| 17 | g.72123715C>T | CA8739040 | SOX9 | c.858C>T (p.Ile286=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.72123716G>A | CA400867198 | SOX9 | c.859G>A (p.Glu287Lys) | dbSNP COSMIC |
| 17 | g.72123716G>C | CA8739041 | SOX9 | c.859G>C (p.Glu287Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123716G= | CA2273926409 | SOX9 | c.859G= (p.Glu287=) | |
| 17 | g.72123716G>T | CA400867199 | SOX9 | c.859G>T (p.Glu287Ter) | dbSNP COSMIC |
| 17 | g.72123717A>C | CA400867202 | SOX9 | c.860A>C (p.Glu287Ala) | |
| 17 | g.72123717A>G | CA400867200 | SOX9 | c.860A>G (p.Glu287Gly) | dbSNP |
| 17 | g.72123717A>T | CA400867201 | SOX9 | c.860A>T (p.Glu287Val) | dbSNP |
| 17 | g.72123718G>A | CA501352085 | SOX9 | c.861G>A (p.Glu287=) | dbSNP gnomAD v4 COSMIC |
| 17 | g.72123718G>C | CA400867203 | SOX9 | c.861G>C (p.Glu287Asp) | dbSNP |
| 17 | g.72123718G>T | CA400867204 | SOX9 | c.861G>T (p.Glu287Asp) | gnomAD v4 |
| 17 | g.72123719A>C | CA400867205 | SOX9 | c.862A>C (p.Thr288Pro) | dbSNP |
| 17 | g.72123719A>G | CA400867206 | SOX9 | c.862A>G (p.Thr288Ala) | |
| 17 | g.72123719A>T | CA400867207 | SOX9 | c.862A>T (p.Thr288Ser) | dbSNP |
| 17 | g.72123720C>A | CA400867208 | SOX9 | c.863C>A (p.Thr288Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123720C= | CA2273926410 | SOX9 | c.863C= (p.Thr288=) | |
| 17 | g.72123720C>G | CA400867210 | SOX9 | c.863C>G (p.Thr288Ser) | dbSNP |
| 17 | g.72123720C>T | CA400867209 | SOX9 | c.863C>T (p.Thr288Ile) | dbSNP |
| 17 | g.72123721C>A | CA501352088 | SOX9 | c.864C>A (p.Thr288=) | dbSNP |
| 17 | g.72123721C= | CA2273926411 | SOX9 | c.864C= (p.Thr288=) | |
| 17 | g.72123721C>G | CA501352086 | SOX9 | c.864C>G (p.Thr288=) | dbSNP gnomAD v4 |
| 17 | g.72123721C>T | CA501352087 | SOX9 | c.864C>T (p.Thr288=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123722T>A | CA400867211 | SOX9 | c.865T>A (p.Phe289Ile) | dbSNP |
| 17 | g.72123722T>C | CA400867212 | SOX9 | c.865T>C (p.Phe289Leu) | dbSNP |
| 17 | g.72123722T>G | CA400867213 | SOX9 | c.865T>G (p.Phe289Val) | |
| 17 | g.72123723T>A | CA400867214 | SOX9 | c.866T>A (p.Phe289Tyr) | dbSNP |
| 17 | g.72123723T>C | CA400867215 | SOX9 | c.866T>C (p.Phe289Ser) | dbSNP |
| 17 | g.72123723T>G | CA400867216 | SOX9 | c.866T>G (p.Phe289Cys) | |
| 17 | g.72123724C>A | CA8739042 | SOX9 | c.867C>A (p.Phe289Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123724C= | CA2273926412 | SOX9 | c.867C= (p.Phe289=) | |
| 17 | g.72123724C>G | CA400867217 | SOX9 | c.867C>G (p.Phe289Leu) | dbSNP gnomAD v4 |
| 17 | g.72123724C>T | CA501352089 | SOX9 | c.867C>T (p.Phe289=) | dbSNP gnomAD v4 |
| 17 | g.72123724dup | CA501352090 | SOX9 | c.867dup (p.Asp290ArgfsTer6) | COSMIC |
| 17 | g.72123725G>A | CA400867218 | SOX9 | c.868G>A (p.Asp290Asn) | COSMIC |
| 17 | g.72123725G>C | CA400867219 | SOX9 | c.868G>C (p.Asp290His) | ClinVar |
| 17 | g.72123725G>T | CA400867220 | SOX9 | c.868G>T (p.Asp290Tyr) | |
| 17 | g.72123726A>C | CA400867223 | SOX9 | c.869A>C (p.Asp290Ala) | dbSNP |
| 17 | g.72123726A>G | CA400867222 | SOX9 | c.869A>G (p.Asp290Gly) | dbSNP |
| 17 | g.72123726A>T | CA400867221 | SOX9 | c.869A>T (p.Asp290Val) | dbSNP |
| 17 | g.72123727T>A | CA400867224 | SOX9 | c.870T>A (p.Asp290Glu) | dbSNP gnomAD v2 |
| 17 | g.72123727T>C | CA501352091 | SOX9 | c.870T>C (p.Asp290=) | dbSNP COSMIC |
| 17 | g.72123727T>G | CA400867225 | SOX9 | c.870T>G (p.Asp290Glu) | dbSNP |
| 17 | g.72123727T= | CA2273926413 | SOX9 | c.870T= (p.Asp290=) | |
| 17 | g.72123728G>A | CA400867226 | SOX9 | c.871G>A (p.Val291Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123728G>C | CA400867227 | SOX9 | c.871G>C (p.Val291Leu) | dbSNP |
| 17 | g.72123728G= | CA2273926414 | SOX9 | c.871G= (p.Val291=) | |
| 17 | g.72123728G>T | CA400867228 | SOX9 | c.871G>T (p.Val291Phe) | |
| 17 | g.72123729del | CA501352092 | SOX9 | c.872del (p.Val291AlafsTer?) | COSMIC |
| 17 | g.72123729T>A | CA400867229 | SOX9 | c.872T>A (p.Val291Asp) | dbSNP |
| 17 | g.72123729T>C | CA400867230 | SOX9 | c.872T>C (p.Val291Ala) | dbSNP gnomAD v4 |
| 17 | g.72123729T>G | CA400867231 | SOX9 | c.872T>G (p.Val291Gly) | dbSNP |
| 17 | g.72123729_72123732dup | CA645598925 | SOX9 | c.872_875dup (p.Glu293GlnfsTer4) | COSMIC |
| 17 | g.72123730C>A | CA501352093 | SOX9 | c.873C>A (p.Val291=) | |
| 17 | g.72123730C>G | CA501352094 | SOX9 | c.873C>G (p.Val291=) | |
| 17 | g.72123730C>T | CA501352095 | SOX9 | c.873C>T (p.Val291=) | |
| 17 | g.72123731A>C | CA400867234 | SOX9 | c.874A>C (p.Asn292His) | |
| 17 | g.72123731A>G | CA400867232 | SOX9 | c.874A>G (p.Asn292Asp) | |
| 17 | g.72123731A>T | CA400867233 | SOX9 | c.874A>T (p.Asn292Tyr) | dbSNP |
| 17 | g.72123732A= | CA2273926415 | SOX9 | c.875A= (p.Asn292=) | |
| 17 | g.72123732A>C | CA400867235 | SOX9 | c.875A>C (p.Asn292Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123732A>G | CA400867236 | SOX9 | c.875A>G (p.Asn292Ser) | dbSNP |
| 17 | g.72123732A>T | CA400867237 | SOX9 | c.875A>T (p.Asn292Ile) | dbSNP |
| 17 | g.72123733C>A | CA400867238 | SOX9 | c.876C>A (p.Asn292Lys) | dbSNP |
| 17 | g.72123733C= | CA2273926416 | SOX9 | c.876C= (p.Asn292=) | |
| 17 | g.72123733C>G | CA400867239 | SOX9 | c.876C>G (p.Asn292Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123733C>T | CA501352096 | SOX9 | c.876C>T (p.Asn292=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123733_72123734delinsGTCA | CA2695200333 | SOX9 | c.876_877delinsGTCA (p.Asn292LysfsTer?) | ClinVar |
| 17 | g.72123734G>A | CA400867240 | SOX9 | c.877G>A (p.Glu293Lys) | dbSNP COSMIC |
| 17 | g.72123734G>C | CA400867242 | SOX9 | c.877G>C (p.Glu293Gln) | dbSNP |
| 17 | g.72123734G>T | CA400867241 | SOX9 | c.877G>T (p.Glu293Ter) | |
| 17 | g.72123735A>C | CA400867243 | SOX9 | c.878A>C (p.Glu293Ala) | |
| 17 | g.72123735A>G | CA400867244 | SOX9 | c.878A>G (p.Glu293Gly) | dbSNP |
| 17 | g.72123735A>T | CA400867245 | SOX9 | c.878A>T (p.Glu293Val) | dbSNP |
| 17 | g.72123736G>A | CA501352097 | SOX9 | c.879G>A (p.Glu293=) | |
| 17 | g.72123736G>C | CA400867246 | SOX9 | c.879G>C (p.Glu293Asp) | |
| 17 | g.72123736G>T | CA400867247 | SOX9 | c.879G>T (p.Glu293Asp) | |
| 17 | g.72123737T>A | CA400867248 | SOX9 | c.880T>A (p.Phe294Ile) | dbSNP |
| 17 | g.72123737T>C | CA400867249 | SOX9 | c.880T>C (p.Phe294Leu) | dbSNP |
| 17 | g.72123737T>G | CA400867250 | SOX9 | c.880T>G (p.Phe294Val) | dbSNP |
| 17 | g.72123738T>A | CA400867251 | SOX9 | c.881T>A (p.Phe294Tyr) | dbSNP |
| 17 | g.72123738T>C | CA400867252 | SOX9 | c.881T>C (p.Phe294Ser) | dbSNP |
| 17 | g.72123738T>G | CA400867253 | SOX9 | c.881T>G (p.Phe294Cys) | |
| 17 | g.72123739T>A | CA400867254 | SOX9 | c.882T>A (p.Phe294Leu) | |
| 17 | g.72123739T>C | CA501352098 | SOX9 | c.882T>C (p.Phe294=) | |
| 17 | g.72123739T>G | CA400867255 | SOX9 | c.882T>G (p.Phe294Leu) | |
| 17 | g.72123740G>A | CA400867256 | SOX9 | c.883G>A (p.Asp295Asn) | dbSNP |
| 17 | g.72123740G>C | CA400867257 | SOX9 | c.883G>C (p.Asp295His) | dbSNP |
| 17 | g.72123740G>T | CA400867258 | SOX9 | c.883G>T (p.Asp295Tyr) | COSMIC |
| 17 | g.72123741A>C | CA400867259 | SOX9 | c.884A>C (p.Asp295Ala) | dbSNP |
| 17 | g.72123741A>G | CA400867260 | SOX9 | c.884A>G (p.Asp295Gly) | dbSNP |
| 17 | g.72123741A>T | CA400867261 | SOX9 | c.884A>T (p.Asp295Val) | dbSNP |
| 17 | g.72123742C>A | CA400867262 | SOX9 | c.885C>A (p.Asp295Glu) | dbSNP |
| 17 | g.72123742C>G | CA400867263 | SOX9 | c.885C>G (p.Asp295Glu) | dbSNP |
| 17 | g.72123742C>T | CA501432604 | SOX9 | c.885C>T (p.Asp295=) | dbSNP |
| 17 | g.72123743dup | CA2695226900 | SOX9 | c.886dup (p.Gln296ProfsTer?) | |
| 17 | g.72123743C>A | CA400867264 | SOX9 | c.886C>A (p.Gln296Lys) | dbSNP |
| 17 | g.72123743C>G | CA400867265 | SOX9 | c.886C>G (p.Gln296Glu) | dbSNP |
| 17 | g.72123743C>T | CA400867266 | SOX9 | c.886C>T (p.Gln296Ter) | dbSNP |
| 17 | g.72123744A= | CA2273926417 | SOX9 | c.887A= (p.Gln296=) | |
| 17 | g.72123744A>C | CA293783432 | SOX9 | c.887A>C (p.Gln296Pro) | dbSNP |
| 17 | g.72123744A>G | CA400867267 | SOX9 | c.887A>G (p.Gln296Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123744A>T | CA400867268 | SOX9 | c.887A>T (p.Gln296Leu) | dbSNP |
| 17 | g.72123745G>A | CA501432605 | SOX9 | c.888G>A (p.Gln296=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123745G>C | CA400867269 | SOX9 | c.888G>C (p.Gln296His) | dbSNP |
| 17 | g.72123745G= | CA2273926418 | SOX9 | c.888G= (p.Gln296=) | |
| 17 | g.72123745G>T | CA400867270 | SOX9 | c.888G>T (p.Gln296His) | dbSNP |
| 17 | g.72123745_72123746dup | CA915952175 | SOX9 | c.888_889dup (p.Tyr297CysfsTer?) | ClinVar dbSNP |
| 17 | g.72123746T>A | CA400867271 | SOX9 | c.889T>A (p.Tyr297Asn) | dbSNP |
| 17 | g.72123746T>C | CA400867272 | SOX9 | c.889T>C (p.Tyr297His) | dbSNP |
| 17 | g.72123746T>G | CA400867273 | SOX9 | c.889T>G (p.Tyr297Asp) | dbSNP |
| 17 | g.72123747A= | CA2273926419 | SOX9 | c.890A= (p.Tyr297=) | |
| 17 | g.72123747A>C | CA400867274 | SOX9 | c.890A>C (p.Tyr297Ser) | dbSNP |
| 17 | g.72123747A>G | CA400867275 | SOX9 | c.890A>G (p.Tyr297Cys) | dbSNP |
| 17 | g.72123747A>T | CA400867276 | SOX9 | c.890A>T (p.Tyr297Phe) | dbSNP |
| 17 | g.72123748C>A | CA400867277 | SOX9 | c.891C>A (p.Tyr297Ter) | dbSNP |
| 17 | g.72123748C>G | CA400867278 | SOX9 | c.891C>G (p.Tyr297Ter) | dbSNP |
| 17 | g.72123748C>T | CA501432606 | SOX9 | c.891C>T (p.Tyr297=) | dbSNP gnomAD v4 |
| 17 | g.72123749C>A | CA400867279 | SOX9 | c.892C>A (p.Leu298Met) | dbSNP |
| 17 | g.72123749C>G | CA400867280 | SOX9 | c.892C>G (p.Leu298Val) | dbSNP |
| 17 | g.72123749C>T | CA501432607 | SOX9 | c.892C>T (p.Leu298=) | dbSNP gnomAD v4 |
| 17 | g.72123750T>A | CA400867281 | SOX9 | c.893T>A (p.Leu298Gln) | |
| 17 | g.72123750T>C | CA400867282 | SOX9 | c.893T>C (p.Leu298Pro) | |
| 17 | g.72123750T>G | CA400867283 | SOX9 | c.893T>G (p.Leu298Arg) | |
| 17 | g.72123751G>A | CA501432608 | SOX9 | c.894G>A (p.Leu298=) | dbSNP |
| 17 | g.72123751G>C | CA8739043 | SOX9 | c.894G>C (p.Leu298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123751G= | CA2273926420 | SOX9 | c.894G= (p.Leu298=) | |
| 17 | g.72123751G>T | CA501432609 | SOX9 | c.894G>T (p.Leu298=) | dbSNP |
| 17 | g.72123752C>A | CA400867285 | SOX9 | c.895C>A (p.Pro299Thr) | dbSNP gnomAD v4 |
| 17 | g.72123752C>G | CA400867284 | SOX9 | c.895C>G (p.Pro299Ala) | dbSNP |
| 17 | g.72123752C>T | CA400867286 | SOX9 | c.895C>T (p.Pro299Ser) | dbSNP |
| 17 | g.72123753C>A | CA400867287 | SOX9 | c.896C>A (p.Pro299Gln) | dbSNP |
| 17 | g.72123753C>G | CA400867289 | SOX9 | c.896C>G (p.Pro299Arg) | dbSNP |
| 17 | g.72123753C>T | CA400867288 | SOX9 | c.896C>T (p.Pro299Leu) | dbSNP gnomAD v4 |
| 17 | g.72123754G>A | CA501432610 | SOX9 | c.897G>A (p.Pro299=) | dbSNP COSMIC |
| 17 | g.72123754G>C | CA501432611 | SOX9 | c.897G>C (p.Pro299=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123754G= | CA2273926421 | SOX9 | c.897G= (p.Pro299=) | |
| 17 | g.72123754G>T | CA501432612 | SOX9 | c.897G>T (p.Pro299=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123754_72123755insACCAACCCCACCAAACACA | CA2810344957 | SOX9 | c.897_898insACCAACCCCACCAAACACA (p.Pro300ThrfsTer?) | |
| 17 | g.72123755C>A | CA400867290 | SOX9 | c.898C>A (p.Pro300Thr) | dbSNP |
| 17 | g.72123755C>G | CA400867292 | SOX9 | c.898C>G (p.Pro300Ala) | dbSNP |
| 17 | g.72123755C>T | CA400867291 | SOX9 | c.898C>T (p.Pro300Ser) | dbSNP gnomAD v4 |
| 17 | g.72123756C>A | CA400867293 | SOX9 | c.899C>A (p.Pro300His) | dbSNP |
| 17 | g.72123756C>G | CA400867294 | SOX9 | c.899C>G (p.Pro300Arg) | dbSNP |
| 17 | g.72123756C>T | CA400867295 | SOX9 | c.899C>T (p.Pro300Leu) | dbSNP |
| 17 | g.72123757C>A | CA501432613 | SOX9 | c.900C>A (p.Pro300=) | dbSNP |
| 17 | g.72123757C>G | CA501432614 | SOX9 | c.900C>G (p.Pro300=) | dbSNP |
| 17 | g.72123757C>T | CA501432615 | SOX9 | c.900C>T (p.Pro300=) | dbSNP |
| 17 | g.72123758A>C | CA400867296 | SOX9 | c.901A>C (p.Asn301His) | dbSNP |
| 17 | g.72123758A>G | CA400867297 | SOX9 | c.901A>G (p.Asn301Asp) | dbSNP |
| 17 | g.72123758A>T | CA400867298 | SOX9 | c.901A>T (p.Asn301Tyr) | dbSNP |
| 17 | g.72123759A= | CA2273926422 | SOX9 | c.902A= (p.Asn301=) | |
| 17 | g.72123759A>C | CA400867299 | SOX9 | c.902A>C (p.Asn301Thr) | dbSNP |
| 17 | g.72123759A>G | CA400867300 | SOX9 | c.902A>G (p.Asn301Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123759A>T | CA400867301 | SOX9 | c.902A>T (p.Asn301Ile) | dbSNP |
| 17 | g.72123760C>A | CA400867302 | SOX9 | c.903C>A (p.Asn301Lys) | |
| 17 | g.72123760C= | CA2273926423 | SOX9 | c.903C= (p.Asn301=) | |
| 17 | g.72123760C>G | CA400867303 | SOX9 | c.903C>G (p.Asn301Lys) | dbSNP |
| 17 | g.72123760C>T | CA8739044 | SOX9 | c.903C>T (p.Asn301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123761G>A | CA400867304 | SOX9 | c.904G>A (p.Gly302Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123761G>C | CA400867306 | SOX9 | c.904G>C (p.Gly302Arg) | dbSNP |
| 17 | g.72123761G= | CA2273926424 | SOX9 | c.904G= (p.Gly302=) | |
| 17 | g.72123761G>T | CA400867305 | SOX9 | c.904G>T (p.Gly302Cys) | dbSNP COSMIC |
| 17 | g.72123761_72123762del | CA2810344958 | SOX9 | c.904_905del (p.Gly302ProfsTer?) | |
| 17 | g.72123762G>A | CA400867307 | SOX9 | c.905G>A (p.Gly302Asp) | |
| 17 | g.72123762G>C | CA400867308 | SOX9 | c.905G>C (p.Gly302Ala) | |
| 17 | g.72123762G= | CA2273926425 | SOX9 | c.905G= (p.Gly302=) | |
| 17 | g.72123762G>T | CA400867309 | SOX9 | c.905G>T (p.Gly302Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123763C>A | CA501432618 | SOX9 | c.906C>A (p.Gly302=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123763C= | CA2273926426 | SOX9 | c.906C= (p.Gly302=) | |
| 17 | g.72123763C>G | CA501432616 | SOX9 | c.906C>G (p.Gly302=) | dbSNP |
| 17 | g.72123763C>T | CA501432617 | SOX9 | c.906C>T (p.Gly302=) | dbSNP |
| 17 | g.72123764C>A | CA400867310 | SOX9 | c.907C>A (p.His303Asn) | dbSNP |
| 17 | g.72123764C>G | CA400867311 | SOX9 | c.907C>G (p.His303Asp) | dbSNP |
| 17 | g.72123764C>T | CA400867312 | SOX9 | c.907C>T (p.His303Tyr) | dbSNP gnomAD v4 |
| 17 | g.72123765A>C | CA400867313 | SOX9 | c.908A>C (p.His303Pro) | dbSNP |
| 17 | g.72123765A>G | CA400867314 | SOX9 | c.908A>G (p.His303Arg) | dbSNP gnomAD v4 |
| 17 | g.72123765A>T | CA400867315 | SOX9 | c.908A>T (p.His303Leu) | |
| 17 | g.72123766C>A | CA400867317 | SOX9 | c.909C>A (p.His303Gln) | |
| 17 | g.72123766C= | CA2273926427 | SOX9 | c.909C= (p.His303=) | |
| 17 | g.72123766C>G | CA400867316 | SOX9 | c.909C>G (p.His303Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123766C>T | CA501432619 | SOX9 | c.909C>T (p.His303=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123767C>A | CA400867318 | SOX9 | c.910C>A (p.Pro304Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123767C= | CA2273926428 | SOX9 | c.910C= (p.Pro304=) | |
| 17 | g.72123767C>G | CA293783453 | SOX9 | c.910C>G (p.Pro304Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123767C>T | CA400867319 | SOX9 | c.910C>T (p.Pro304Ser) | dbSNP gnomAD v4 |
| 17 | g.72123768C>A | CA400867320 | SOX9 | c.911C>A (p.Pro304Gln) | |
| 17 | g.72123768C>G | CA400867321 | SOX9 | c.911C>G (p.Pro304Arg) | |
| 17 | g.72123768C>T | CA400867322 | SOX9 | c.911C>T (p.Pro304Leu) | |
| 17 | g.72123768_72123769delinsCG | CA2273926429 | SOX9 | c.911_912delinsCG (p.Pro304=) | |
| 17 | g.72123769G>A | CA501432620 | SOX9 | c.912G>A (p.Pro304=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123769G>C | CA501432621 | SOX9 | c.912G>C (p.Pro304=) | dbSNP |
| 17 | g.72123769G= | CA2273926430 | SOX9 | c.912G= (p.Pro304=) | |
| 17 | g.72123769G>T | CA501432622 | SOX9 | c.912G>T (p.Pro304=) | gnomAD v4 |
| 17 | g.72123773dup | CA645598926 | SOX9 | c.916dup (p.Val306GlyfsTer?) | COSMIC |
| 17 | g.72123772_72123773dup | CA645598927 | SOX9 | c.915_916dup (p.Val306GlyfsTer?) | COSMIC |
| 17 | g.72123773del | CA501432623 | SOX9 | c.916del (p.Val306CysfsTer?) | dbSNP gnomAD v2 COSMIC |
| 17 | g.72123770G>A | CA400867323 | SOX9 | c.913G>A (p.Gly305Arg) | dbSNP |
| 17 | g.72123770G>C | CA400867324 | SOX9 | c.913G>C (p.Gly305Arg) | dbSNP |
| 17 | g.72123770G>T | CA400867325 | SOX9 | c.913G>T (p.Gly305Trp) | dbSNP |
| 17 | g.72123771G>A | CA400867326 | SOX9 | c.914G>A (p.Gly305Glu) | dbSNP |
| 17 | g.72123771G>C | CA8739045 | SOX9 | c.914G>C (p.Gly305Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123771G= | CA2273926431 | SOX9 | c.914G= (p.Gly305=) | |
| 17 | g.72123771G>T | CA400867327 | SOX9 | c.914G>T (p.Gly305Val) | dbSNP gnomAD v4 COSMIC |
| 17 | g.72123772G>A | CA8739046 | SOX9 | c.915G>A (p.Gly305=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123772G>C | CA501432624 | SOX9 | c.915G>C (p.Gly305=) | dbSNP |
| 17 | g.72123772G= | CA2273926432 | SOX9 | c.915G= (p.Gly305=) | |
| 17 | g.72123772G>T | CA501432625 | SOX9 | c.915G>T (p.Gly305=) | dbSNP gnomAD v4 |
| 17 | g.72123774_72123779del | CA2639603124 | SOX9 | c.917_922del (p.Val306_Pro307del) | gnomAD v4 |
| 17 | g.72123773G>A | CA400867328 | SOX9 | c.916G>A (p.Val306Met) | dbSNP gnomAD v4 |
| 17 | g.72123773G>C | CA400867329 | SOX9 | c.916G>C (p.Val306Leu) | dbSNP |
| 17 | g.72123773G= | CA2273926433 | SOX9 | c.916G= (p.Val306=) | |
| 17 | g.72123773G>T | CA8739047 | SOX9 | c.916G>T (p.Val306Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.72123774_72123775dup | CA645598928 | SOX9 | c.917_918dup (p.Pro307CysfsTer?) | COSMIC |
| 17 | g.72123773_72123774insGT | CA645598929 | SOX9 | c.916_917insGT (p.Val306GlyfsTer?) | COSMIC |
| 17 | g.72123774T>A | CA400867330 | SOX9 | c.917T>A (p.Val306Glu) | dbSNP |
| 17 | g.72123774T>C | CA400867331 | SOX9 | c.917T>C (p.Val306Ala) | dbSNP gnomAD v4 |
| 17 | g.72123774T>G | CA400867332 | SOX9 | c.917T>G (p.Val306Gly) | dbSNP |
| 17 | g.72123775G>A | CA8739048 | SOX9 | c.918G>A (p.Val306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123775G>C | CA501432626 | SOX9 | c.918G>C (p.Val306=) | dbSNP |
| 17 | g.72123775G= | CA2273926434 | SOX9 | c.918G= (p.Val306=) | |
| 17 | g.72123775G>T | CA501432627 | SOX9 | c.918G>T (p.Val306=) | dbSNP |
| 17 | g.72123776C>A | CA400867333 | SOX9 | c.919C>A (p.Pro307Thr) | dbSNP |
| 17 | g.72123776C= | CA2273926435 | SOX9 | c.919C= (p.Pro307=) | |
| 17 | g.72123776C>G | CA400867334 | SOX9 | c.919C>G (p.Pro307Ala) | dbSNP |
| 17 | g.72123776C>T | CA400867335 | SOX9 | c.919C>T (p.Pro307Ser) | dbSNP gnomAD v2 |
| 17 | g.72123777C>A | CA400867336 | SOX9 | c.920C>A (p.Pro307Gln) | dbSNP |
| 17 | g.72123777C= | CA2273926436 | SOX9 | c.920C= (p.Pro307=) | |
| 17 | g.72123777C>G | CA8739049 | SOX9 | c.920C>G (p.Pro307Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123777C>T | CA293783460 | SOX9 | c.920C>T (p.Pro307Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.72123778G>A | CA501432628 | SOX9 | c.921G>A (p.Pro307=) | dbSNP |
| 17 | g.72123778G>C | CA8739050 | SOX9 | c.921G>C (p.Pro307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123778G= | CA2273926437 | SOX9 | c.921G= (p.Pro307=) | |
| 17 | g.72123778G>T | CA501432629 | SOX9 | c.921G>T (p.Pro307=) | dbSNP |
| 17 | g.72123779G>A | CA8739051 | SOX9 | c.922G>A (p.Ala308Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123779G>C | CA400867338 | SOX9 | c.922G>C (p.Ala308Pro) | |
| 17 | g.72123779G= | CA2273926438 | SOX9 | c.922G= (p.Ala308=) | |
| 17 | g.72123779G>T | CA400867337 | SOX9 | c.922G>T (p.Ala308Ser) | |
| 17 | g.72123780C>A | CA400867341 | SOX9 | c.923C>A (p.Ala308Asp) | dbSNP |
| 17 | g.72123780C>G | CA400867339 | SOX9 | c.923C>G (p.Ala308Gly) | dbSNP |
| 17 | g.72123780C>T | CA400867340 | SOX9 | c.923C>T (p.Ala308Val) | dbSNP gnomAD v4 |
| 17 | g.72123781C>A | CA501432630 | SOX9 | c.924C>A (p.Ala308=) | |
| 17 | g.72123781C= | CA2273926439 | SOX9 | c.924C= (p.Ala308=) | |
| 17 | g.72123781C>G | CA501432631 | SOX9 | c.924C>G (p.Ala308=) | |
| 17 | g.72123781C>T | CA8739052 | SOX9 | c.924C>T (p.Ala308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123784_72123798del | CA2639603125 | SOX9 | c.927_941del (p.His310_Thr314del) | gnomAD v4 |
| 17 | g.72123782A= | CA2273926440 | SOX9 | c.925A= (p.Thr309=) | |
| 17 | g.72123782A>C | CA400867342 | SOX9 | c.925A>C (p.Thr309Pro) | dbSNP |
| 17 | g.72123782A>G | CA400867343 | SOX9 | c.925A>G (p.Thr309Ala) | dbSNP gnomAD v4 |
| 17 | g.72123782A>T | CA400867344 | SOX9 | c.925A>T (p.Thr309Ser) | dbSNP |
| 17 | g.72123783C>A | CA400867345 | SOX9 | c.926C>A (p.Thr309Lys) | |
| 17 | g.72123783C>G | CA400867346 | SOX9 | c.926C>G (p.Thr309Arg) | dbSNP |
| 17 | g.72123783C>T | CA400867347 | SOX9 | c.926C>T (p.Thr309Met) | dbSNP |
| 17 | g.72123784G>A | CA501432632 | SOX9 | c.927G>A (p.Thr309=) | dbSNP |
| 17 | g.72123784G>C | CA501432634 | SOX9 | c.927G>C (p.Thr309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123784G= | CA2273926441 | SOX9 | c.927G= (p.Thr309=) | |
| 17 | g.72123784G>T | CA501432633 | SOX9 | c.927G>T (p.Thr309=) | dbSNP |
| 17 | g.72123785C>A | CA400867348 | SOX9 | c.928C>A (p.His310Asn) | dbSNP gnomAD v4 |
| 17 | g.72123785C= | CA2273926442 | SOX9 | c.928C= (p.His310=) | |
| 17 | g.72123785C>G | CA8739053 | SOX9 | c.928C>G (p.His310Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123785C>T | CA400867349 | SOX9 | c.928C>T (p.His310Tyr) | dbSNP |
| 17 | g.72123786A= | CA2273926443 | SOX9 | c.929A= (p.His310=) | |
| 17 | g.72123786A>C | CA400867352 | SOX9 | c.929A>C (p.His310Pro) | |
| 17 | g.72123786A>G | CA400867350 | SOX9 | c.929A>G (p.His310Arg) | |
| 17 | g.72123786A>T | CA400867351 | SOX9 | c.929A>T (p.His310Leu) | dbSNP |
| 17 | g.72123787C>A | CA400867353 | SOX9 | c.930C>A (p.His310Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123787C= | CA2273926444 | SOX9 | c.930C= (p.His310=) | |
| 17 | g.72123787C>G | CA400867354 | SOX9 | c.930C>G (p.His310Gln) | dbSNP |
| 17 | g.72123787C>T | CA8739054 | SOX9 | c.930C>T (p.His310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123788G>A | CA8739055 | SOX9 | c.931G>A (p.Gly311Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.72123788G>C | CA400867355 | SOX9 | c.931G>C (p.Gly311Arg) | dbSNP |
| 17 | g.72123788G= | CA2273926445 | SOX9 | c.931G= (p.Gly311=) | |
| 17 | g.72123788G>T | CA400867356 | SOX9 | c.931G>T (p.Gly311Cys) | dbSNP |
| 17 | g.72123788_72123789del | CA2639603126 | SOX9 | c.931_932del (p.Gly311ProfsTer?) | gnomAD v4 |
| 17 | g.72123789G>A | CA400867357 | SOX9 | c.932G>A (p.Gly311Asp) | |
| 17 | g.72123789G>C | CA400867358 | SOX9 | c.932G>C (p.Gly311Ala) | |
| 17 | g.72123789G>T | CA400867359 | SOX9 | c.932G>T (p.Gly311Val) | |
| 17 | g.72123790C>A | CA501432635 | SOX9 | c.933C>A (p.Gly311=) | dbSNP |
| 17 | g.72123790C= | CA2273926446 | SOX9 | c.933C= (p.Gly311=) | |
| 17 | g.72123790C>G | CA501432636 | SOX9 | c.933C>G (p.Gly311=) | dbSNP |
| 17 | g.72123790C>T | CA501432637 | SOX9 | c.933C>T (p.Gly311=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123790_72123791insTA | CA2639603127 | SOX9 | c.933_934insTA (p.Gln312TyrfsTer?) | gnomAD v4 |
| 17 | g.72123791C>A | CA400867360 | SOX9 | c.934C>A (p.Gln312Lys) | dbSNP |
| 17 | g.72123791C>G | CA400867361 | SOX9 | c.934C>G (p.Gln312Glu) | dbSNP |
| 17 | g.72123791C>T | CA400867362 | SOX9 | c.934C>T (p.Gln312Ter) | dbSNP |
| 17 | g.72123792A= | CA2273926447 | SOX9 | c.935A= (p.Gln312=) | |
| 17 | g.72123792A>C | CA400867364 | SOX9 | c.935A>C (p.Gln312Pro) | |
| 17 | g.72123792A>G | CA400867365 | SOX9 | c.935A>G (p.Gln312Arg) | ClinVar dbSNP |
| 17 | g.72123792A>T | CA400867363 | SOX9 | c.935A>T (p.Gln312Leu) | dbSNP |
| 17 | g.72123793G>A | CA501432638 | SOX9 | c.936G>A (p.Gln312=) | dbSNP gnomAD v4 |
| 17 | g.72123793G>C | CA400867366 | SOX9 | c.936G>C (p.Gln312His) | dbSNP gnomAD v4 |
| 17 | g.72123793G>T | CA400867367 | SOX9 | c.936G>T (p.Gln312His) | |
| 17 | g.72123794G>A | CA400867368 | SOX9 | c.937G>A (p.Val313Ile) | dbSNP |
| 17 | g.72123794G>C | CA400867369 | SOX9 | c.937G>C (p.Val313Leu) | dbSNP |
| 17 | g.72123794G>T | CA400867370 | SOX9 | c.937G>T (p.Val313Phe) | dbSNP gnomAD v4 |
| 17 | g.72123795T>A | CA400867373 | SOX9 | c.938T>A (p.Val313Asp) | dbSNP |
| 17 | g.72123795T>C | CA400867372 | SOX9 | c.938T>C (p.Val313Ala) | dbSNP |
| 17 | g.72123795T>G | CA400867371 | SOX9 | c.938T>G (p.Val313Gly) | dbSNP |
| 17 | g.72123796C>A | CA501432639 | SOX9 | c.939C>A (p.Val313=) | dbSNP |
| 17 | g.72123796C>G | CA501432641 | SOX9 | c.939C>G (p.Val313=) | dbSNP |
| 17 | g.72123796C>T | CA501432640 | SOX9 | c.939C>T (p.Val313=) | dbSNP |
| 17 | g.72123797A>C | CA400867374 | SOX9 | c.940A>C (p.Thr314Pro) | dbSNP |
| 17 | g.72123797A>G | CA400867375 | SOX9 | c.940A>G (p.Thr314Ala) | |
| 17 | g.72123797A>T | CA400867376 | SOX9 | c.940A>T (p.Thr314Ser) | dbSNP |
| 17 | g.72123798C>A | CA400867377 | SOX9 | c.941C>A (p.Thr314Asn) | dbSNP |
| 17 | g.72123798C>G | CA400867378 | SOX9 | c.941C>G (p.Thr314Ser) | dbSNP |
| 17 | g.72123798C>T | CA400867379 | SOX9 | c.941C>T (p.Thr314Ile) | dbSNP gnomAD v4 |
| 17 | g.72123799C>A | CA501432642 | SOX9 | c.942C>A (p.Thr314=) | dbSNP gnomAD v4 |
| 17 | g.72123799C>G | CA501432643 | SOX9 | c.942C>G (p.Thr314=) | |
| 17 | g.72123799C>T | CA501432644 | SOX9 | c.942C>T (p.Thr314=) | dbSNP |
| 17 | g.72123799_72123800insACCAACACCCAAACACACCCAA | CA2810344959 | SOX9 | c.942_943insACCAACACCCAAACACACCCAA (p.Tyr315ThrfsTer?) | |
| 17 | g.72123800T>A | CA400867380 | SOX9 | c.943T>A (p.Tyr315Asn) | dbSNP |
| 17 | g.72123800T>C | CA400867382 | SOX9 | c.943T>C (p.Tyr315His) | dbSNP |
| 17 | g.72123800T>G | CA400867381 | SOX9 | c.943T>G (p.Tyr315Asp) | |
| 17 | g.72123801A>C | CA400867383 | SOX9 | c.944A>C (p.Tyr315Ser) | dbSNP |
| 17 | g.72123801A>G | CA400867384 | SOX9 | c.944A>G (p.Tyr315Cys) | dbSNP |
| 17 | g.72123801A>T | CA400867385 | SOX9 | c.944A>T (p.Tyr315Phe) | dbSNP |
| 17 | g.72123801dup | CA2739268449 | SOX9 | c.944dup (p.Tyr315Ter) | ClinVar |
| 17 | g.72123802C>A | CA400867386 | SOX9 | c.945C>A (p.Tyr315Ter) | |
| 17 | g.72123802C>G | CA400867387 | SOX9 | c.945C>G (p.Tyr315Ter) | |
| 17 | g.72123802C>T | CA501432645 | SOX9 | c.945C>T (p.Tyr315=) | |
| 17 | g.72123803A= | CA2273926448 | SOX9 | c.946A= (p.Thr316=) | |
| 17 | g.72123803A>C | CA400867388 | SOX9 | c.946A>C (p.Thr316Pro) | dbSNP |
| 17 | g.72123803A>G | CA400867389 | SOX9 | c.946A>G (p.Thr316Ala) | dbSNP gnomAD v4 |
| 17 | g.72123803A>T | CA400867390 | SOX9 | c.946A>T (p.Thr316Ser) | dbSNP gnomAD v4 |
| 17 | g.72123804C>A | CA400867391 | SOX9 | c.947C>A (p.Thr316Lys) | |
| 17 | g.72123804C= | CA2273926449 | SOX9 | c.947C= (p.Thr316=) | |
| 17 | g.72123804C>G | CA400867392 | SOX9 | c.947C>G (p.Thr316Arg) | |
| 17 | g.72123804C>T | CA400867393 | SOX9 | c.947C>T (p.Thr316Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123805G>A | CA8739056 | SOX9 | c.948G>A (p.Thr316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123805G>C | CA501432646 | SOX9 | c.948G>C (p.Thr316=) | dbSNP |
| 17 | g.72123805G= | CA2273926450 | SOX9 | c.948G= (p.Thr316=) | |
| 17 | g.72123805G>T | CA501432647 | SOX9 | c.948G>T (p.Thr316=) | dbSNP COSMIC |