| X | g.634637G>A | CA515393048 | SHOX | c.297G>A (p.Glu99=)
| |
| X | g.634637G>C | CA10329943 | SHOX | c.297G>C (p.Glu99Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634637G= | CA2411385678 | SHOX | c.297G= (p.Glu99=)
| |
| X | g.634637G>T | CA412231190 | SHOX | c.297G>T (p.Glu99Asp)
| COSMIC |
| X | g.634638A>C | CA412231191 | SHOX | c.298A>C (p.Lys100Gln)
| gnomAD v4 |
| X | g.634638A>G | CA412231192 | SHOX | c.298A>G (p.Lys100Glu)
| |
| X | g.634638A>T | CA412231193 | SHOX | c.298A>T (p.Lys100Ter)
| |
| X | g.634639A= | CA2411385679 | SHOX | c.299A= (p.Lys100=)
| |
| X | g.634639A>C | CA412231194 | SHOX | c.299A>C (p.Lys100Thr)
| |
| X | g.634639A>G | CA412231195 | SHOX | c.299A>G (p.Lys100Arg)
| dbSNP |
| X | g.634639A>T | CA412231196 | SHOX | c.299A>T (p.Lys100Met)
| |
| X | g.634640G>A | CA515393053 | SHOX | c.300G>A (p.Lys100=)
| |
| X | g.634640G>C | CA412231197 | SHOX | c.300G>C (p.Lys100Asn)
| dbSNP gnomAD v4 |
| X | g.634640G= | CA2411385680 | SHOX | c.300G= (p.Lys100=)
| |
| X | g.634640G>T | CA412231198 | SHOX | c.300G>T (p.Lys100Asn)
| |
| X | g.634641C>A | CA325621117 | SHOX | c.301C>A (p.Arg101Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634641C= | CA2411385681 | SHOX | c.301C= (p.Arg101=)
| |
| X | g.634641C>G | CA412231199 | SHOX | c.301C>G (p.Arg101Gly)
| gnomAD v4 |
| X | g.634641C>T | CA10329944 | SHOX | c.301C>T (p.Arg101Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634642G>A | CA10329945 | SHOX | c.302G>A (p.Arg101His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.634642G>C | CA412231200 | SHOX | c.302G>C (p.Arg101Pro)
| gnomAD v4 |
| X | g.634642G= | CA2411385682 | SHOX | c.302G= (p.Arg101=)
| |
| X | g.634642G>T | CA412231201 | SHOX | c.302G>T (p.Arg101Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634643C>A | CA515393063 | SHOX | c.303C>A (p.Arg101=)
| |
| X | g.634643C= | CA2411385683 | SHOX | c.303C= (p.Arg101=)
| |
| X | g.634643C>G | CA515393064 | SHOX | c.303C>G (p.Arg101=)
| |
| X | g.634643C>T | CA515393065 | SHOX | c.303C>T (p.Arg101=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634644G>A | CA412231202 | SHOX | c.304G>A (p.Glu102Lys)
| |
| X | g.634644G>C | CA412231203 | SHOX | c.304G>C (p.Glu102Gln)
| |
| X | g.634644G= | CA2411385684 | SHOX | c.304G= (p.Glu102=)
| |
| X | g.634644G>T | CA254922 | SHOX | c.304G>T (p.Glu102Ter)
| ClinVar dbSNP |
| X | g.634645A>C | CA412231204 | SHOX | c.305A>C (p.Glu102Ala)
| |
| X | g.634645A>G | CA412231205 | SHOX | c.305A>G (p.Glu102Gly)
| gnomAD v4 |
| X | g.634645A>T | CA412231206 | SHOX | c.305A>T (p.Glu102Val)
| |
| X | g.634646G>A | CA515393073 | SHOX | c.306G>A (p.Glu102=)
| |
| X | g.634646G>C | CA412231207 | SHOX | c.306G>C (p.Glu102Asp)
| gnomAD v4 |
| X | g.634646G>T | CA412231208 | SHOX | c.306G>T (p.Glu102Asp)
| |
| X | g.634647G>A | CA412231209 | SHOX | c.307G>A (p.Asp103Asn)
| COSMIC COSMIC |
| X | g.634647G>C | CA412231210 | SHOX | c.307G>C (p.Asp103His)
| |
| X | g.634647G>T | CA412231211 | SHOX | c.307G>T (p.Asp103Tyr)
| gnomAD v4 |
| X | g.634648A>C | CA412231213 | SHOX | c.308A>C (p.Asp103Ala)
| |
| X | g.634648A>G | CA412231214 | SHOX | c.308A>G (p.Asp103Gly)
| |
| X | g.634648A>T | CA412231212 | SHOX | c.308A>T (p.Asp103Val)
| |
| X | g.634649C>A | CA412231215 | SHOX | c.309C>A (p.Asp103Glu)
| |
| X | g.634649C= | CA2411385685 | SHOX | c.309C= (p.Asp103=)
| |
| X | g.634649C>G | CA10329946 | SHOX | c.309C>G (p.Asp103Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634649C>T | CA515393077 | SHOX | c.309C>T (p.Asp103=)
| dbSNP |
| X | g.634650G>A | CA412231216 | SHOX | c.310G>A (p.Val104Met)
| dbSNP gnomAD v4 |
| X | g.634650G>C | CA412231217 | SHOX | c.310G>C (p.Val104Leu)
| dbSNP gnomAD v4 |
| X | g.634650G= | CA2411385686 | SHOX | c.310G= (p.Val104=)
| |
| X | g.634650G>T | CA412231218 | SHOX | c.310G>T (p.Val104Leu)
| dbSNP gnomAD v4 |
| X | g.634651T>A | CA412231219 | SHOX | c.311T>A (p.Val104Glu)
| |
| X | g.634651T>C | CA412231220 | SHOX | c.311T>C (p.Val104Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634651T>G | CA412231221 | SHOX | c.311T>G (p.Val104Gly)
| |
| X | g.634651T= | CA2411385687 | SHOX | c.311T= (p.Val104=)
| |
| X | g.634652G>A | CA515393080 | SHOX | c.312G>A (p.Val104=)
| COSMIC |
| X | g.634652G>C | CA515393083 | SHOX | c.312G>C (p.Val104=)
| dbSNP |
| X | g.634652G= | CA2411385688 | SHOX | c.312G= (p.Val104=)
| |
| X | g.634652G>T | CA10329947 | SHOX | c.312G>T (p.Val104=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634653A>C | CA412231222 | SHOX | c.313A>C (p.Lys105Gln)
| |
| X | g.634653A>G | CA412231223 | SHOX | c.313A>G (p.Lys105Glu)
| |
| X | g.634653A>T | CA412231224 | SHOX | c.313A>T (p.Lys105Ter)
| gnomAD v4 |
| X | g.634654A>C | CA412231225 | SHOX | c.314A>C (p.Lys105Thr)
| |
| X | g.634654A>G | CA412231226 | SHOX | c.314A>G (p.Lys105Arg)
| |
| X | g.634654A>T | CA412231227 | SHOX | c.314A>T (p.Lys105Met)
| |
| X | g.634655G>A | CA515393086 | SHOX | c.315G>A (p.Lys105=)
| |
| X | g.634655G>C | CA412231228 | SHOX | c.315G>C (p.Lys105Asn)
| |
| X | g.634655G>T | CA412231229 | SHOX | c.315G>T (p.Lys105Asn)
| |
| X | g.634656T>A | CA412231230 | SHOX | c.316T>A (p.Ser106Thr)
| |
| X | g.634656T>C | CA412231231 | SHOX | c.316T>C (p.Ser106Pro)
| |
| X | g.634656T>G | CA412231232 | SHOX | c.316T>G (p.Ser106Ala)
| |
| X | g.634657C>A | CA412231233 | SHOX | c.317C>A (p.Ser106Ter)
| |
| X | g.634657C= | CA2411385689 | SHOX | c.317C= (p.Ser106=)
| |
| X | g.634657C>G | CA325621133 | SHOX | c.317C>G (p.Ser106Trp)
| dbSNP gnomAD v4 |
| X | g.634657C>T | CA412231234 | SHOX | c.317C>T (p.Ser106Leu)
| gnomAD v4 COSMIC COSMIC |
| X | g.634658G>A | CA515393093 | SHOX | c.318G>A (p.Ser106=)
| dbSNP gnomAD v4 |
| X | g.634658G>C | CA515393094 | SHOX | c.318G>C (p.Ser106=)
| gnomAD v4 |
| X | g.634658G= | CA2411385690 | SHOX | c.318G= (p.Ser106=)
| |
| X | g.634658G>T | CA515393095 | SHOX | c.318G>T (p.Ser106=)
| gnomAD v4 |
| X | g.634659G>A | CA412231237 | SHOX | c.319G>A (p.Glu107Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634659G>C | CA412231235 | SHOX | c.319G>C (p.Glu107Gln)
| |
| X | g.634659G= | CA2411385691 | SHOX | c.319G= (p.Glu107=)
| |
| X | g.634659G>T | CA412231236 | SHOX | c.319G>T (p.Glu107Ter)
| |
| X | g.634660A= | CA2411385692 | SHOX | c.320A= (p.Glu107=)
| |
| X | g.634660A>C | CA412231238 | SHOX | c.320A>C (p.Glu107Ala)
| |
| X | g.634660A>G | CA412231239 | SHOX | c.320A>G (p.Glu107Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634660A>T | CA412231240 | SHOX | c.320A>T (p.Glu107Val)
| |
| X | g.634661G>A | CA515393102 | SHOX | c.321G>A (p.Glu107=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634661G>C | CA412231241 | SHOX | c.321G>C (p.Glu107Asp)
| |
| X | g.634661G= | CA2411385694 | SHOX | c.321G= (p.Glu107=)
| |
| X | g.634661G>T | CA412231242 | SHOX | c.321G>T (p.Glu107Asp)
| |
| X | g.634661_634664delinsGGAC | CA2411385693 | SHOX | c.321_324delinsGGAC (p.Glu107=)
| |
| X | g.634662G>A | CA412231243 | SHOX | c.322G>A (p.Asp108Asn)
| |
| X | g.634662G>C | CA412231245 | SHOX | c.322G>C (p.Asp108His)
| |
| X | g.634662G>T | CA412231244 | SHOX | c.322G>T (p.Asp108Tyr)
| gnomAD v4 |
| X | g.634664_634666del | CA640360087 | SHOX | c.324_326del (p.Asp108del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634663A= | CA2411385695 | SHOX | c.323A= (p.Asp108=)
| |
| X | g.634663A>C | CA412231246 | SHOX | c.323A>C (p.Asp108Ala)
| dbSNP |
| X | g.634663A>G | CA412231247 | SHOX | c.323A>G (p.Asp108Gly)
| gnomAD v4 |
| X | g.634663A>T | CA412231248 | SHOX | c.323A>T (p.Asp108Val)
| |
| X | g.634664C>A | CA412231249 | SHOX | c.324C>A (p.Asp108Glu)
| gnomAD v4 |
| X | g.634664C= | CA2411385696 | SHOX | c.324C= (p.Asp108=)
| |
| X | g.634664C>G | CA412231250 | SHOX | c.324C>G (p.Asp108Glu)
| |
| X | g.634664C>T | CA515393106 | SHOX | c.324C>T (p.Asp108=)
| dbSNP gnomAD v4 |
| X | g.634665G>A | CA10329949 | SHOX | c.325G>A (p.Glu109Lys)
| dbSNP ExAC COSMIC COSMIC |
| X | g.634665G>C | CA10329948 | SHOX | c.325G>C (p.Glu109Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634665G= | CA2411385697 | SHOX | c.325G= (p.Glu109=)
| |
| X | g.634665G>T | CA412231251 | SHOX | c.325G>T (p.Glu109Ter)
| |
| X | g.634666A>C | CA412231252 | SHOX | c.326A>C (p.Glu109Ala)
| |
| X | g.634666A>G | CA412231253 | SHOX | c.326A>G (p.Glu109Gly)
| |
| X | g.634666A>T | CA412231254 | SHOX | c.326A>T (p.Glu109Val)
| |
| X | g.634667G>A | CA325621140 | SHOX | c.327G>A (p.Glu109=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634667G>C | CA412231255 | SHOX | c.327G>C (p.Glu109Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634667G= | CA2411385698 | SHOX | c.327G= (p.Glu109=)
| |
| X | g.634667G>T | CA10329950 | SHOX | c.327G>T (p.Glu109Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634668G>A | CA412231256 | SHOX | c.328G>A (p.Asp110Asn)
| gnomAD v4 |
| X | g.634668G>C | CA412231258 | SHOX | c.328G>C (p.Asp110His)
| |
| X | g.634668G= | CA2411385699 | SHOX | c.328G= (p.Asp110=)
| |
| X | g.634668G>T | CA412231257 | SHOX | c.328G>T (p.Asp110Tyr)
| dbSNP gnomAD v4 |
| X | g.634669A>C | CA412231259 | SHOX | c.329A>C (p.Asp110Ala)
| |
| X | g.634669A>G | CA412231260 | SHOX | c.329A>G (p.Asp110Gly)
| |
| X | g.634669A>T | CA412231261 | SHOX | c.329A>T (p.Asp110Val)
| |
| X | g.634670C>A | CA412231262 | SHOX | c.330C>A (p.Asp110Glu)
| gnomAD v4 |
| X | g.634670C= | CA2411385700 | SHOX | c.330C= (p.Asp110=)
| |
| X | g.634670C>G | CA412231263 | SHOX | c.330C>G (p.Asp110Glu)
| |
| X | g.634670C>T | CA325621146 | SHOX | c.330C>T (p.Asp110=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634671G>A | CA412231264 | SHOX | c.331G>A (p.Gly111Arg)
| gnomAD v4 |
| X | g.634671G>C | CA10329951 | SHOX | c.331G>C (p.Gly111Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634671G= | CA2411385701 | SHOX | c.331G= (p.Gly111=)
| |
| X | g.634671G>T | CA412231265 | SHOX | c.331G>T (p.Gly111Trp)
| gnomAD v4 |
| X | g.634672G>A | CA412231266 | SHOX | c.332G>A (p.Gly111Glu)
| |
| X | g.634672G>C | CA10329952 | SHOX | c.332G>C (p.Gly111Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634672G= | CA2411385702 | SHOX | c.332G= (p.Gly111=)
| |
| X | g.634672G>T | CA412231267 | SHOX | c.332G>T (p.Gly111Val)
| |
| X | g.634673G>A | CA515393122 | SHOX | c.333G>A (p.Gly111=)
| dbSNP gnomAD v4 |
| X | g.634673G>C | CA515393124 | SHOX | c.333G>C (p.Gly111=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634673G= | CA2411385703 | SHOX | c.333G= (p.Gly111=)
| |
| X | g.634673G>T | CA515393123 | SHOX | c.333G>T (p.Gly111=)
| |
| X | g.634674C>A | CA412231268 | SHOX | c.334C>A (p.Gln112Lys)
| dbSNP gnomAD v4 |
| X | g.634674C= | CA2411385704 | SHOX | c.334C= (p.Gln112=)
| |
| X | g.634674C>G | CA412231270 | SHOX | c.334C>G (p.Gln112Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634674C>T | CA412231269 | SHOX | c.334C>T (p.Gln112Ter)
| ClinVar dbSNP |
| X | g.634675A= | CA2411385705 | SHOX | c.335A= (p.Gln112=)
| |
| X | g.634675A>C | CA10329953 | SHOX | c.335A>C (p.Gln112Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634675A>G | CA412231272 | SHOX | c.335A>G (p.Gln112Arg)
| |
| X | g.634675A>T | CA412231271 | SHOX | c.335A>T (p.Gln112Leu)
| |
| X | g.634676G>A | CA515393128 | SHOX | c.336G>A (p.Gln112=)
| |
| X | g.634676G>C | CA10329954 | SHOX | c.336G>C (p.Gln112His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634676G= | CA2411385706 | SHOX | c.336G= (p.Gln112=)
| |
| X | g.634676G>T | CA412231273 | SHOX | c.336G>T (p.Gln112His)
| dbSNP |
| X | g.634677A= | CA2411385707 | SHOX | c.337A= (p.Thr113=)
| |
| X | g.634677A>C | CA412231274 | SHOX | c.337A>C (p.Thr113Pro)
| gnomAD v4 |
| X | g.634677A>G | CA10329955 | SHOX | c.337A>G (p.Thr113Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.634677A>T | CA412231275 | SHOX | c.337A>T (p.Thr113Ser)
| |
| X | g.634678C>A | CA10329956 | SHOX | c.338C>A (p.Thr113Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634678C= | CA2411385708 | SHOX | c.338C= (p.Thr113=)
| |
| X | g.634678C>G | CA412231276 | SHOX | c.338C>G (p.Thr113Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634678C>T | CA412231277 | SHOX | c.338C>T (p.Thr113Ile)
| |
| X | g.634679C>A | CA515393136 | SHOX | c.339C>A (p.Thr113=)
| |
| X | g.634679C= | CA2411385709 | SHOX | c.339C= (p.Thr113=)
| |
| X | g.634679C>G | CA515393137 | SHOX | c.339C>G (p.Thr113=)
| dbSNP gnomAD v4 |
| X | g.634679C>T | CA515393138 | SHOX | c.339C>T (p.Thr113=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634680A= | CA2411385710 | SHOX | c.340A= (p.Lys114=)
| |
| X | g.634680A>C | CA412231278 | SHOX | c.340A>C (p.Lys114Gln)
| |
| X | g.634680A>G | CA325621154 | SHOX | c.340A>G (p.Lys114Glu)
| dbSNP |
| X | g.634680A>T | CA412231279 | SHOX | c.340A>T (p.Lys114Ter)
| |
| X | g.634681dup | CA2692951297 | SHOX | c.341dup (p.Leu115AlafsTer?)
| gnomAD v4 |
| X | g.634681A>C | CA412231282 | SHOX | c.341A>C (p.Lys114Thr)
| |
| X | g.634681A>G | CA412231281 | SHOX | c.341A>G (p.Lys114Arg)
| gnomAD v4 |
| X | g.634681A>T | CA412231280 | SHOX | c.341A>T (p.Lys114Met)
| |
| X | g.634682G>A | CA515393144 | SHOX | c.342G>A (p.Lys114=)
| ClinVar dbSNP COSMIC COSMIC |
| X | g.634682G>C | CA412231283 | SHOX | c.342G>C (p.Lys114Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634682G= | CA2411385711 | SHOX | c.342G= (p.Lys114=)
| |
| X | g.634682G>T | CA412231284 | SHOX | c.342G>T (p.Lys114Asn)
| |
| X | g.634683C>A | CA412231285 | SHOX | c.343C>A (p.Leu115Met)
| |
| X | g.634683C>G | CA412231286 | SHOX | c.343C>G (p.Leu115Val)
| gnomAD v4 |
| X | g.634683C>T | CA515393145 | SHOX | c.343C>T (p.Leu115=)
| |
| X | g.634684T>A | CA412231287 | SHOX | c.344T>A (p.Leu115Gln)
| |
| X | g.634684T>C | CA412231288 | SHOX | c.344T>C (p.Leu115Pro)
| |
| X | g.634684T>G | CA412231289 | SHOX | c.344T>G (p.Leu115Arg)
| |
| X | g.634685G>A | CA515393151 | SHOX | c.345G>A (p.Leu115=)
| dbSNP gnomAD v2 |
| X | g.634685G>C | CA515393152 | SHOX | c.345G>C (p.Leu115=)
| dbSNP |
| X | g.634685G= | CA2411385712 | SHOX | c.345G= (p.Leu115=)
| |
| X | g.634685G>T | CA515393153 | SHOX | c.345G>T (p.Leu115=)
| |
| X | g.634686A= | CA2411385713 | SHOX | c.346A= (p.Lys116=)
| |
| X | g.634686A>C | CA412231290 | SHOX | c.346A>C (p.Lys116Gln)
| |
| X | g.634686A>G | CA412231291 | SHOX | c.346A>G (p.Lys116Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634686A>T | CA412231292 | SHOX | c.346A>T (p.Lys116Ter)
| |
| X | g.634688del | CA2580615349 | SHOX | c.348del (p.Lys116AsnfsTer14)
| ClinVar dbSNP |
| X | g.634687A= | CA2411385714 | SHOX | c.347A= (p.Lys116=)
| |
| X | g.634687A>C | CA412231293 | SHOX | c.347A>C (p.Lys116Thr)
| |
| X | g.634687A>G | CA214246 | SHOX | c.347A>G (p.Lys116Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634687A>T | CA412231294 | SHOX | c.347A>T (p.Lys116Ile)
| |
| X | g.634688A>C | CA412231295 | SHOX | c.348A>C (p.Lys116Asn)
| |
| X | g.634688A>G | CA515393159 | SHOX | c.348A>G (p.Lys116=)
| gnomAD v4 |
| X | g.634688A>T | CA412231296 | SHOX | c.348A>T (p.Lys116Asn)
| |
| X | g.634689C>A | CA412231297 | SHOX | c.349C>A (p.Gln117Lys)
| |
| X | g.634689C= | CA2411385716 | SHOX | c.349C= (p.Gln117=)
| |
| X | g.634689C>G | CA412231298 | SHOX | c.349C>G (p.Gln117Glu)
| |
| X | g.634689C>T | CA412231299 | SHOX | c.349C>T (p.Gln117Ter)
| ClinVar dbSNP |
| X | g.634689_634691delinsCAG | CA2411385715 | SHOX | c.349_351delinsCAG (p.Gln117=)
| |
| X | g.634690A>C | CA412231300 | SHOX | c.350A>C (p.Gln117Pro)
| |
| X | g.634690A>G | CA412231301 | SHOX | c.350A>G (p.Gln117Arg)
| |
| X | g.634690A>T | CA412231302 | SHOX | c.350A>T (p.Gln117Leu)
| |
| X | g.634692_634693dup | CA916083833 | SHOX | c.352_353dup (p.Arg119GlyfsTer12)
| ClinVar dbSNP |
| X | g.634692_634693del | CA916083832 | SHOX | c.352_353del (p.Arg118AlafsTer?)
| ClinVar dbSNP gnomAD v4 |
| X | g.634691G>A | CA515393164 | SHOX | c.351G>A (p.Gln117=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634691G>C | CA412231303 | SHOX | c.351G>C (p.Gln117His)
| dbSNP gnomAD v4 |
| X | g.634691G= | CA2411385717 | SHOX | c.351G= (p.Gln117=)
| |
| X | g.634691G>T | CA412231304 | SHOX | c.351G>T (p.Gln117His)
| |
| X | g.634692A>C | CA515393166 | SHOX | c.352A>C (p.Arg118=)
| |
| X | g.634692A>G | CA412231305 | SHOX | c.352A>G (p.Arg118Gly)
| |
| X | g.634692A>T | CA412231306 | SHOX | c.352A>T (p.Arg118Trp)
| |
| X | g.634693G>A | CA10329958 | SHOX | c.353G>A (p.Arg118Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634693G>C | CA10329957 | SHOX | c.353G>C (p.Arg118Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634693G= | CA2411385718 | SHOX | c.353G= (p.Arg118=)
| |
| X | g.634693G>T | CA412231307 | SHOX | c.353G>T (p.Arg118Met)
| |
| X | g.634694G>A | CA10329959 | SHOX | c.354G>A (p.Arg118=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634694G>C | CA412231308 | SHOX | c.354G>C (p.Arg118Ser)
| gnomAD v4 |
| X | g.634694G= | CA2411385719 | SHOX | c.354G= (p.Arg118=)
| |
| X | g.634694G>T | CA412231309 | SHOX | c.354G>T (p.Arg118Ser)
| |
| X | g.634695C>A | CA412231310 | SHOX | c.355C>A (p.Arg119Ser)
| |
| X | g.634695C>G | CA412231311 | SHOX | c.355C>G (p.Arg119Gly)
| |
| X | g.634695C>T | CA412231312 | SHOX | c.355C>T (p.Arg119Cys)
| gnomAD v4 |
| X | g.634696G>A | CA412231313 | SHOX | c.356G>A (p.Arg119His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634696G>C | CA412231314 | SHOX | c.356G>C (p.Arg119Pro)
| |
| X | g.634696G= | CA2411385720 | SHOX | c.356G= (p.Arg119=)
| |
| X | g.634696G>T | CA412231315 | SHOX | c.356G>T (p.Arg119Leu)
| gnomAD v4 |
| X | g.634697C>A | CA515393174 | SHOX | c.357C>A (p.Arg119=)
| |
| X | g.634697C>G | CA515393175 | SHOX | c.357C>G (p.Arg119=)
| |
| X | g.634697C>T | CA515393176 | SHOX | c.357C>T (p.Arg119=)
| |
| X | g.634698del | CA2695231041 | SHOX | c.358del (p.Ser120AlafsTer10)
| |
| X | g.634698A>C | CA412231316 | SHOX | c.358A>C (p.Ser120Arg)
| |
| X | g.634698A>G | CA412231317 | SHOX | c.358A>G (p.Ser120Gly)
| |
| X | g.634698A>T | CA412231318 | SHOX | c.358A>T (p.Ser120Cys)
| |
| X | g.634699del | CA2695231042 | SHOX | c.359del (p.Ser120ThrfsTer10)
| |
| X | g.634699G>A | CA412231319 | SHOX | c.359G>A (p.Ser120Asn)
| |
| X | g.634699G>C | CA412231320 | SHOX | c.359G>C (p.Ser120Thr)
| |
| X | g.634699G>T | CA412231321 | SHOX | c.359G>T (p.Ser120Ile)
| |
| X | g.634700C>A | CA412231322 | SHOX | c.360C>A (p.Ser120Arg)
| |
| X | g.634700C>G | CA412231323 | SHOX | c.360C>G (p.Ser120Arg)
| |
| X | g.634700C>T | CA515393179 | SHOX | c.360C>T (p.Ser120=)
| |
| X | g.634701C>A | CA412231324 | SHOX | c.361C>A (p.Arg121Ser)
| |
| X | g.634701C= | CA2411385721 | SHOX | c.361C= (p.Arg121=)
| |
| X | g.634701C>G | CA412231326 | SHOX | c.361C>G (p.Arg121Gly)
| ClinVar dbSNP |
| X | g.634701C>T | CA412231325 | SHOX | c.361C>T (p.Arg121Cys)
| |
| X | g.634702G>A | CA412231327 | SHOX | c.362G>A (p.Arg121His)
| dbSNP gnomAD v2 COSMIC COSMIC |
| X | g.634702G>C | CA412231329 | SHOX | c.362G>C (p.Arg121Pro)
| ClinVar dbSNP |
| X | g.634702G= | CA2411385722 | SHOX | c.362G= (p.Arg121=)
| |
| X | g.634702G>T | CA412231328 | SHOX | c.362G>T (p.Arg121Leu)
| gnomAD v4 |
| X | g.634703C>A | CA10329961 | SHOX | c.363C>A (p.Arg121=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634703C= | CA2411385723 | SHOX | c.363C= (p.Arg121=)
| |
| X | g.634703C>G | CA515393183 | SHOX | c.363C>G (p.Arg121=)
| |
| X | g.634703C>T | CA10329960 | SHOX | c.363C>T (p.Arg121=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634704A>C | CA412231330 | SHOX | c.364A>C (p.Thr122Pro)
| ClinVar dbSNP |
| X | g.634704A>G | CA412231332 | SHOX | c.364A>G (p.Thr122Ala)
| gnomAD v4 |
| X | g.634704A>T | CA412231331 | SHOX | c.364A>T (p.Thr122Ser)
| |
| X | g.634705C>A | CA412231333 | SHOX | c.365C>A (p.Thr122Asn)
| |
| X | g.634705C= | CA2411385724 | SHOX | c.365C= (p.Thr122=)
| |
| X | g.634705C>G | CA10329962 | SHOX | c.365C>G (p.Thr122Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634705C>T | CA412231334 | SHOX | c.365C>T (p.Thr122Ile)
| |
| X | g.634706C>A | CA515393190 | SHOX | c.366C>A (p.Thr122=)
| dbSNP |
| X | g.634706C= | CA2411385725 | SHOX | c.366C= (p.Thr122=)
| |
| X | g.634706C>G | CA515393192 | SHOX | c.366C>G (p.Thr122=)
| gnomAD v4 |
| X | g.634706C>T | CA10329963 | SHOX | c.366C>T (p.Thr122=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634707A>C | CA412231335 | SHOX | c.367A>C (p.Asn123His)
| |
| X | g.634707A>G | CA412231336 | SHOX | c.367A>G (p.Asn123Asp)
| COSMIC |
| X | g.634707A>T | CA412231337 | SHOX | c.367A>T (p.Asn123Tyr)
| |
| X | g.634708A= | CA2411385726 | SHOX | c.368A= (p.Asn123=)
| |
| X | g.634708A>C | CA325621174 | SHOX | c.368A>C (p.Asn123Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634708A>G | CA412231338 | SHOX | c.368A>G (p.Asn123Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634708A>T | CA412231339 | SHOX | c.368A>T (p.Asn123Ile)
| |
| X | g.634709C>A | CA412231340 | SHOX | c.369C>A (p.Asn123Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634709C= | CA2411385727 | SHOX | c.369C= (p.Asn123=)
| |
| X | g.634709C>G | CA412231341 | SHOX | c.369C>G (p.Asn123Lys)
| |
| X | g.634709C>T | CA515393199 | SHOX | c.369C>T (p.Asn123=)
| |
| X | g.634710T>A | CA412231344 | SHOX | c.370T>A (p.Phe124Ile)
| |
| X | g.634710T>C | CA412231342 | SHOX | c.370T>C (p.Phe124Leu)
| gnomAD v4 |
| X | g.634710T>G | CA412231343 | SHOX | c.370T>G (p.Phe124Val)
| COSMIC COSMIC |
| X | g.634711T>A | CA412231345 | SHOX | c.371T>A (p.Phe124Tyr)
| |
| X | g.634711T>C | CA412231346 | SHOX | c.371T>C (p.Phe124Ser)
| |
| X | g.634711T>G | CA412231347 | SHOX | c.371T>G (p.Phe124Cys)
| |
| X | g.634712C>A | CA412231348 | SHOX | c.372C>A (p.Phe124Leu)
| |
| X | g.634712C>G | CA412231349 | SHOX | c.372C>G (p.Phe124Leu)
| |
| X | g.634712C>T | CA515393205 | SHOX | c.372C>T (p.Phe124=)
| |
| X | g.634713A>C | CA412231350 | SHOX | c.373A>C (p.Thr125Pro)
| |
| X | g.634713A>G | CA412231351 | SHOX | c.373A>G (p.Thr125Ala)
| |
| X | g.634713A>T | CA412231352 | SHOX | c.373A>T (p.Thr125Ser)
| |
| X | g.634714del | CA2695231043 | SHOX | c.374del (p.Thr125SerfsTer5)
| |
| X | g.634714C>A | CA412231353 | SHOX | c.374C>A (p.Thr125Lys)
| gnomAD v4 |
| X | g.634714C= | CA2411385728 | SHOX | c.374C= (p.Thr125=)
| |
| X | g.634714C>G | CA412231354 | SHOX | c.374C>G (p.Thr125Arg)
| |
| X | g.634714C>T | CA412231355 | SHOX | c.374C>T (p.Thr125Met)
| ClinVar dbSNP |
| X | g.634715G>A | CA515393214 | SHOX | c.375G>A (p.Thr125=)
| COSMIC COSMIC |
| X | g.634715G>C | CA515393216 | SHOX | c.375G>C (p.Thr125=)
| |
| X | g.634715G>T | CA515393215 | SHOX | c.375G>T (p.Thr125=)
| COSMIC COSMIC |
| X | g.634716C>A | CA412231356 | SHOX | c.376C>A (p.Leu126Met)
| |
| X | g.634716C= | CA2411385729 | SHOX | c.376C= (p.Leu126=)
| |
| X | g.634716C>G | CA412231357 | SHOX | c.376C>G (p.Leu126Val)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634716C>T | CA515393220 | SHOX | c.376C>T (p.Leu126=)
| gnomAD v4 |
| X | g.634717T>A | CA412231358 | SHOX | c.377T>A (p.Leu126Gln)
| |
| X | g.634717T>C | CA412231359 | SHOX | c.377T>C (p.Leu126Pro)
| |
| X | g.634717T>G | CA412231360 | SHOX | c.377T>G (p.Leu126Arg)
| dbSNP |
| X | g.634717T= | CA2411385730 | SHOX | c.377T= (p.Leu126=)
| |
| X | g.634718G>A | CA515393225 | SHOX | c.378G>A (p.Leu126=)
| |
| X | g.634718G>C | CA515393226 | SHOX | c.378G>C (p.Leu126=)
| |
| X | g.634718G>T | CA515393227 | SHOX | c.378G>T (p.Leu126=)
| |
| X | g.634719G>A | CA412231361 | SHOX | c.379G>A (p.Glu127Lys)
| dbSNP gnomAD v4 |
| X | g.634719G>C | CA412231362 | SHOX | c.379G>C (p.Glu127Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634719G= | CA2411385731 | SHOX | c.379G= (p.Glu127=)
| |
| X | g.634719G>T | CA412231363 | SHOX | c.379G>T (p.Glu127Ter)
| |
| X | g.634720del | CA2695231044 | SHOX | c.380del (p.Glu127GlyfsTer3)
| |
| X | g.634720A= | CA2411385732 | SHOX | c.380A= (p.Glu127=)
| |
| X | g.634720A>C | CA412231364 | SHOX | c.380A>C (p.Glu127Ala)
| |
| X | g.634720A>G | CA412231365 | SHOX | c.380A>G (p.Glu127Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634720A>T | CA412231366 | SHOX | c.380A>T (p.Glu127Val)
| |
| X | g.634721G>A | CA515393233 | SHOX | c.381G>A (p.Glu127=)
| gnomAD v4 |
| X | g.634721G>C | CA412231367 | SHOX | c.381G>C (p.Glu127Asp)
| |
| X | g.634721G>T | CA412231368 | SHOX | c.381G>T (p.Glu127Asp)
| |
| X | g.634722C>A | CA412231371 | SHOX | c.382C>A (p.Gln128Lys)
| |
| X | g.634722C>G | CA412231370 | SHOX | c.382C>G (p.Gln128Glu)
| |
| X | g.634722C>T | CA412231369 | SHOX | c.382C>T (p.Gln128Ter)
| |
| X | g.634723A>C | CA412231372 | SHOX | c.383A>C (p.Gln128Pro)
| |
| X | g.634723A>G | CA412231373 | SHOX | c.383A>G (p.Gln128Arg)
| |
| X | g.634723A>T | CA412231374 | SHOX | c.383A>T (p.Gln128Leu)
| gnomAD v4 |
| X | g.634724G>A | CA515393236 | SHOX | c.384G>A (p.Gln128=)
| gnomAD v4 |
| X | g.634724G>C | CA412231375 | SHOX | c.384G>C (p.Gln128His)
| |
| X | g.634724G>T | CA412231376 | SHOX | c.384G>T (p.Gln128His)
| |
| X | g.634725C>A | CA412231377 | SHOX | c.385C>A (p.Leu129Met)
| |
| X | g.634725C>G | CA412231378 | SHOX | c.385C>G (p.Leu129Val)
| gnomAD v4 |
| X | g.634725C>T | CA515393238 | SHOX | c.385C>T (p.Leu129=)
| COSMIC COSMIC |
| X | g.634726T>A | CA412231379 | SHOX | c.386T>A (p.Leu129Gln)
| |
| X | g.634726T>C | CA412231380 | SHOX | c.386T>C (p.Leu129Pro)
| |
| X | g.634726T>G | CA412231381 | SHOX | c.386T>G (p.Leu129Arg)
| |
| X | g.634727G>A | CA515393245 | SHOX | c.387G>A (p.Leu129=)
| gnomAD v4 |
| X | g.634727G>C | CA515393247 | SHOX | c.387G>C (p.Leu129=)
| |
| X | g.634727G>T | CA515393248 | SHOX | c.387G>T (p.Leu129=)
| |
| X | g.634728A>C | CA412231382 | SHOX | c.388A>C (p.Asn130His)
| |
| X | g.634728A>G | CA412231383 | SHOX | c.388A>G (p.Asn130Asp)
| |
| X | g.634728A>T | CA412231384 | SHOX | c.388A>T (p.Asn130Tyr)
| |
| X | g.634729A= | CA2411385733 | SHOX | c.389A= (p.Asn130=)
| |
| X | g.634729A>C | CA412231387 | SHOX | c.389A>C (p.Asn130Thr)
| ClinVar dbSNP gnomAD v4 |
| X | g.634729A>G | CA412231386 | SHOX | c.389A>G (p.Asn130Ser)
| gnomAD v4 |
| X | g.634729A>T | CA412231385 | SHOX | c.389A>T (p.Asn130Ile)
| |
| X | g.634730C>A | CA412231388 | SHOX | c.390C>A (p.Asn130Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634730C= | CA2411385734 | SHOX | c.390C= (p.Asn130=)
| |
| X | g.634730C>G | CA10329964 | SHOX | c.390C>G (p.Asn130Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634730C>T | CA515393253 | SHOX | c.390C>T (p.Asn130=)
| gnomAD v4 |
| X | g.634731G>A | CA412231389 | SHOX | c.391G>A (p.Glu131Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634731G>C | CA412231390 | SHOX | c.391G>C (p.Glu131Gln)
| dbSNP gnomAD v4 |
| X | g.634731G= | CA2411385735 | SHOX | c.391G= (p.Glu131=)
| |
| X | g.634731G>T | CA412231391 | SHOX | c.391G>T (p.Glu131Ter)
| ClinVar |
| X | g.634732A>C | CA412231392 | SHOX | c.392A>C (p.Glu131Ala)
| |
| X | g.634732A>G | CA412231393 | SHOX | c.392A>G (p.Glu131Gly)
| |
| X | g.634732A>T | CA412231394 | SHOX | c.392A>T (p.Glu131Val)
| COSMIC COSMIC |
| X | g.634733G>A | CA515393258 | SHOX | c.393G>A (p.Glu131=)
| dbSNP |
| X | g.634733G>C | CA10329965 | SHOX | c.393G>C (p.Glu131Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634733G= | CA2411385736 | SHOX | c.393G= (p.Glu131=)
| |
| X | g.634733G>T | CA412231395 | SHOX | c.393G>T (p.Glu131Asp)
| |
| X | g.634734C>A | CA412231396 | SHOX | c.394C>A (p.Leu132Ile)
| gnomAD v4 |
| X | g.634734C= | CA2411385737 | SHOX | c.394C= (p.Leu132=)
| |
| X | g.634734C>G | CA254913 | SHOX | c.394C>G (p.Leu132Val)
| ClinVar dbSNP |
| X | g.634734C>T | CA412231397 | SHOX | c.394C>T (p.Leu132Phe)
| |
| X | g.634735T>A | CA412231398 | SHOX | c.395T>A (p.Leu132His)
| |
| X | g.634735T>C | CA412231399 | SHOX | c.395T>C (p.Leu132Pro)
| |
| X | g.634735T>G | CA412231400 | SHOX | c.395T>G (p.Leu132Arg)
| |
| X | g.634736C>A | CA515393275 | SHOX | c.396C>A (p.Leu132=)
| gnomAD v4 |
| X | g.634736C= | CA2411385738 | SHOX | c.396C= (p.Leu132=)
| |
| X | g.634736C>G | CA10329966 | SHOX | c.396C>G (p.Leu132=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634736C>T | CA515393277 | SHOX | c.396C>T (p.Leu132=)
| |
| X | g.634737G>A | CA412231401 | SHOX | c.397G>A (p.Glu133Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.634737G>C | CA10329967 | SHOX | c.397G>C (p.Glu133Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634737G= | CA2411385739 | SHOX | c.397G= (p.Glu133=)
| |
| X | g.634737G>T | CA412231402 | SHOX | c.397G>T (p.Glu133Ter)
| |
