| 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.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)
| |
| X | g.634738A>C | CA412231403 | SHOX | c.398A>C (p.Glu133Ala)
| |
| X | g.634738A>G | CA412231404 | SHOX | c.398A>G (p.Glu133Gly)
| |
| X | g.634738A>T | CA412231405 | SHOX | c.398A>T (p.Glu133Val)
| |
| X | g.634739G>A | CA515393292 | SHOX | c.399G>A (p.Glu133=)
| |
| X | g.634739G>C | CA412231406 | SHOX | c.399G>C (p.Glu133Asp)
| ClinVar dbSNP |
| X | g.634739G= | CA2411385740 | SHOX | c.399G= (p.Glu133=)
| |
| X | g.634739G>T | CA412231407 | SHOX | c.399G>T (p.Glu133Asp)
| |
| X | g.634740C>A | CA214250 | SHOX | c.400C>A (p.Arg134=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634740C= | CA2411385741 | SHOX | c.400C= (p.Arg134=)
| |
| X | g.634740C>G | CA412231408 | SHOX | c.400C>G (p.Arg134Gly)
| |
| X | g.634740C>T | CA412231409 | SHOX | c.400C>T (p.Arg134Ter)
| |
| X | g.634741G>A | CA412231410 | SHOX | c.401G>A (p.Arg134Gln)
| gnomAD v4 |
| X | g.634741G>C | CA412231411 | SHOX | c.401G>C (p.Arg134Pro)
| |
| X | g.634741G= | CA2411385742 | SHOX | c.401G= (p.Arg134=)
| |
| X | g.634741G>T | CA412231412 | SHOX | c.401G>T (p.Arg134Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.634742A= | CA2411385743 | SHOX | c.402A= (p.Arg134=)
| |
| X | g.634742A>C | CA515393307 | SHOX | c.402A>C (p.Arg134=)
| |
| X | g.634742A>G | CA515393308 | SHOX | c.402A>G (p.Arg134=)
| ClinVar dbSNP |
| X | g.634742A>T | CA515393309 | SHOX | c.402A>T (p.Arg134=)
| |
| X | g.634743C>A | CA412231413 | SHOX | c.403C>A (p.Leu135Ile)
| |
| X | g.634743C= | CA2411385744 | SHOX | c.403C= (p.Leu135=)
| |
| X | g.634743C>G | CA412231415 | SHOX | c.403C>G (p.Leu135Val)
| ClinVar dbSNP gnomAD v4 |
| X | g.634743C>T | CA412231414 | SHOX | c.403C>T (p.Leu135Phe)
| gnomAD v4 |
| X | g.634744T>A | CA412231416 | SHOX | c.404T>A (p.Leu135His)
| |
| X | g.634744T>C | CA412231417 | SHOX | c.404T>C (p.Leu135Pro)
| |
| X | g.634744T>G | CA412231418 | SHOX | c.404T>G (p.Leu135Arg)
| |
| X | g.634745C>A | CA515393318 | SHOX | c.405C>A (p.Leu135=)
| |
| X | g.634745C>G | CA515393319 | SHOX | c.405C>G (p.Leu135=)
| gnomAD v4 |
| X | g.634745C>T | CA515393320 | SHOX | c.405C>T (p.Leu135=)
| |
| X | g.634746T>A | CA412231419 | SHOX | c.406T>A (p.Phe136Ile)
| |
| X | g.634746T>C | CA412231420 | SHOX | c.406T>C (p.Phe136Leu)
| |
| X | g.634746T>G | CA412231421 | SHOX | c.406T>G (p.Phe136Val)
| |
| X | g.634747T>A | CA412231422 | SHOX | c.407T>A (p.Phe136Tyr)
| |
| X | g.634747T>C | CA412231423 | SHOX | c.407T>C (p.Phe136Ser)
| |
| X | g.634747T>G | CA412231424 | SHOX | c.407T>G (p.Phe136Cys)
| |
| X | g.634748C>A | CA412231425 | SHOX | c.408C>A (p.Phe136Leu)
| |
| X | g.634748C= | CA2411385745 | SHOX | c.408C= (p.Phe136=)
| |
| X | g.634748C>G | CA412231426 | SHOX | c.408C>G (p.Phe136Leu)
| dbSNP |
| X | g.634748C>T | CA515393328 | SHOX | c.408C>T (p.Phe136=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634748delinsTACGACTCT | CA2695231045 | SHOX | c.408delinsTACGACTCT (p.Asp137ThrfsTer?)
| |
| X | g.634749G>A | CA412231428 | SHOX | c.409G>A (p.Asp137Asn)
| gnomAD v4 |
| X | g.634749G>C | CA412231427 | SHOX | c.409G>C (p.Asp137His)
| gnomAD v4 |
| X | g.634749G= | CA2411385746 | SHOX | c.409G= (p.Asp137=)
| |
| X | g.634749G>T | CA10329968 | SHOX | c.409G>T (p.Asp137Tyr)
| dbSNP ExAC gnomAD v2 |
| X | g.634750A>C | CA412231429 | SHOX | c.410A>C (p.Asp137Ala)
| |
| X | g.634750A>G | CA412231430 | SHOX | c.410A>G (p.Asp137Gly)
| |
| X | g.634750A>T | CA412231431 | SHOX | c.410A>T (p.Asp137Val)
| |
| X | g.634751del | CA2692951341 | SHOX | c.411del (p.Asp137GlufsTer?)
| gnomAD v4 |
| X | g.634751C>A | CA412231432 | SHOX | c.411C>A (p.Asp137Glu)
| gnomAD v4 |
| X | g.634751C= | CA2411385747 | SHOX | c.411C= (p.Asp137=)
| |
| X | g.634751C>G | CA10329969 | SHOX | c.411C>G (p.Asp137Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634751C>T | CA325621220 | SHOX | c.411C>T (p.Asp137=)
| dbSNP |
| X | g.634752G>A | CA412231433 | SHOX | c.412G>A (p.Glu138Lys)
| gnomAD v4 |
| X | g.634752G>C | CA412231434 | SHOX | c.412G>C (p.Glu138Gln)
| gnomAD v4 |
| X | g.634752G>T | CA412231435 | SHOX | c.412G>T (p.Glu138Ter)
| |
| X | g.634753A>C | CA412231436 | SHOX | c.413A>C (p.Glu138Ala)
| |
| X | g.634753A>G | CA412231437 | SHOX | c.413A>G (p.Glu138Gly)
| |
| X | g.634753A>T | CA412231438 | SHOX | c.413A>T (p.Glu138Val)
| |
| X | g.634754G>A | CA515393354 | SHOX | c.414G>A (p.Glu138=)
| dbSNP |
| X | g.634754G>C | CA10329970 | SHOX | c.414G>C (p.Glu138Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634754G= | CA2411385748 | SHOX | c.414G= (p.Glu138=)
| |
| X | g.634754G>T | CA412231439 | SHOX | c.414G>T (p.Glu138Asp)
| dbSNP gnomAD v4 |
| X | g.634755A= | CA2411385749 | SHOX | c.415A= (p.Thr139=)
| |
| X | g.634755A>C | CA412231441 | SHOX | c.415A>C (p.Thr139Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634755A>G | CA412231442 | SHOX | c.415A>G (p.Thr139Ala)
| |
| X | g.634755A>T | CA412231440 | SHOX | c.415A>T (p.Thr139Ser)
| |
| X | g.634756C>A | CA412231443 | SHOX | c.416C>A (p.Thr139Asn)
| |
| X | g.634756C= | CA2411385750 | SHOX | c.416C= (p.Thr139=)
| |
| X | g.634756C>G | CA412231444 | SHOX | c.416C>G (p.Thr139Ser)
| gnomAD v4 |
| X | g.634756C>T | CA10329971 | SHOX | c.416C>T (p.Thr139Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634757C>A | CA515393367 | SHOX | c.417C>A (p.Thr139=)
| gnomAD v4 |
| X | g.634757C>G | CA515393373 | SHOX | c.417C>G (p.Thr139=)
| |
| X | g.634757C>T | CA515393371 | SHOX | c.417C>T (p.Thr139=)
| gnomAD v4 |
| X | g.634758C>A | CA412231445 | SHOX | c.418C>A (p.His140Asn)
| |
| X | g.634758C= | CA2411385751 | SHOX | c.418C= (p.His140=)
| |
| X | g.634758C>G | CA412231446 | SHOX | c.418C>G (p.His140Asp)
| |
| X | g.634758C>T | CA412231447 | SHOX | c.418C>T (p.His140Tyr)
| dbSNP |
| X | g.634759_634760insCCAAACACACCCAACACA | CA2819363274 | SHOX | c.419_420insCCAAACACACCCAACACA (p.His140_Tyr141insGlnThrHisProThrHis)
| |
| X | g.634759_634760insAACCAAACACACCCAACACA | CA2819363273 | SHOX | c.419_420insAACCAAACACACCCAACACA (p.His140GlnfsTer?)
| |
| X | g.634759del | CA2740092009 | SHOX | c.419del (p.His140LeufsTer?)
| ClinVar |
| X | g.634759A>C | CA412231448 | SHOX | c.419A>C (p.His140Pro)
| |
| X | g.634759A>G | CA412231449 | SHOX | c.419A>G (p.His140Arg)
| |
| X | g.634759A>T | CA412231450 | SHOX | c.419A>T (p.His140Leu)
| |
| X | g.634760T>A | CA412231451 | SHOX | c.420T>A (p.His140Gln)
| |
| X | g.634760T>C | CA10329972 | SHOX | c.420T>C (p.His140=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634760T>G | CA412231452 | SHOX | c.420T>G (p.His140Gln)
| |
| X | g.634760T= | CA2411385752 | SHOX | c.420T= (p.His140=)
| |
| X | g.634760_634761del | CA2819363275 | SHOX | c.420_421del (p.His140GlnfsTer?)
| |
| X | g.634761T>A | CA412231453 | SHOX | c.421T>A (p.Tyr141Asn)
| |
| X | g.634761T>C | CA412231454 | SHOX | c.421T>C (p.Tyr141His)
| gnomAD v4 |
| X | g.634761T>G | CA412231455 | SHOX | c.421T>G (p.Tyr141Asp)
| ClinVar dbSNP |
| X | g.634762A>C | CA412231456 | SHOX | c.422A>C (p.Tyr141Ser)
| |
| X | g.634762A>G | CA412231458 | SHOX | c.422A>G (p.Tyr141Cys)
| |
| X | g.634762A>T | CA412231457 | SHOX | c.422A>T (p.Tyr141Phe)
| |
| X | g.634763C>A | CA412231459 | SHOX | c.423C>A (p.Tyr141Ter)
| |
| X | g.634763C>G | CA412231460 | SHOX | c.423C>G (p.Tyr141Ter)
| |
| X | g.634763C>T | CA515393383 | SHOX | c.423C>T (p.Tyr141=)
| gnomAD v4 |
| X | g.634766dup | CA2695231046 | SHOX | c.426dup (p.Asp143ArgfsTer?)
| |
| X | g.634764C>A | CA412231461 | SHOX | c.424C>A (p.Pro142Thr)
| |
| X | g.634764C>G | CA412231462 | SHOX | c.424C>G (p.Pro142Ala)
| |
| X | g.634764C>T | CA412231463 | SHOX | c.424C>T (p.Pro142Ser)
| |
| X | g.634765C>A | CA412231464 | SHOX | c.425C>A (p.Pro142His)
| gnomAD v4 |
| X | g.634765C>G | CA412231465 | SHOX | c.425C>G (p.Pro142Arg)
| |
| X | g.634765C>T | CA412231466 | SHOX | c.425C>T (p.Pro142Leu)
| |
| X | g.634766C>A | CA10329974 | SHOX | c.426C>A (p.Pro142=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634766C= | CA2411385753 | SHOX | c.426C= (p.Pro142=)
| |
| X | g.634766C>G | CA10329973 | SHOX | c.426C>G (p.Pro142=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634766C>T | CA515393393 | SHOX | c.426C>T (p.Pro142=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.634767G>A | CA412231469 | SHOX | c.427G>A (p.Asp143Asn)
| dbSNP gnomAD v4 |
| X | g.634767G>C | CA412231468 | SHOX | c.427G>C (p.Asp143His)
| |
| X | g.634767G= | CA2411385754 | SHOX | c.427G= (p.Asp143=)
| |
| X | g.634767G>T | CA412231467 | SHOX | c.427G>T (p.Asp143Tyr)
| |
| X | g.634768A>C | CA412231472 | SHOX | c.428A>C (p.Asp143Ala)
| |
| X | g.634768A>G | CA412231470 | SHOX | c.428A>G (p.Asp143Gly)
| |
| X | g.634768A>T | CA412231471 | SHOX | c.428A>T (p.Asp143Val)
| |
| X | g.634769C>A | CA412231473 | SHOX | c.429C>A (p.Asp143Glu)
| gnomAD v4 |
| X | g.634769C= | CA2411385755 | SHOX | c.429C= (p.Asp143=)
| |
| X | g.634769C>G | CA325621235 | SHOX | c.429C>G (p.Asp143Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634769C>T | CA10329975 | SHOX | c.429C>T (p.Asp143=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634770G>A | CA412231475 | SHOX | c.430G>A (p.Ala144Thr)
| dbSNP gnomAD v2 COSMIC COSMIC |
| X | g.634770G>C | CA10329976 | SHOX | c.430G>C (p.Ala144Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634770G= | CA2411385756 | SHOX | c.430G= (p.Ala144=)
| |
| X | g.634770G>T | CA412231474 | SHOX | c.430G>T (p.Ala144Ser)
| |
| X | g.634771C>A | CA412231476 | SHOX | c.431C>A (p.Ala144Asp)
| ClinVar dbSNP |
| X | g.634771C= | CA2411385757 | SHOX | c.431C= (p.Ala144=)
| |
| X | g.634771C>G | CA412231477 | SHOX | c.431C>G (p.Ala144Gly)
| gnomAD v4 |
| X | g.634771C>T | CA412231478 | SHOX | c.431C>T (p.Ala144Val)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634772C>A | CA325621244 | SHOX | c.432C>A (p.Ala144=)
| dbSNP gnomAD v2 |
| X | g.634772C= | CA2411385758 | SHOX | c.432C= (p.Ala144=)
| |
| X | g.634772C>G | CA515393431 | SHOX | c.432C>G (p.Ala144=)
| |
| X | g.634772C>T | CA515393433 | SHOX | c.432C>T (p.Ala144=)
| gnomAD v4 |
| X | g.634773T>A | CA412231479 | SHOX | c.433T>A (p.Phe145Ile)
| |
| X | g.634773T>C | CA10329977 | SHOX | c.433T>C (p.Phe145Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634773T>G | CA412231480 | SHOX | c.433T>G (p.Phe145Val)
| |
| X | g.634773T= | CA2411385759 | SHOX | c.433T= (p.Phe145=)
| |
| X | g.634774T>A | CA412231481 | SHOX | c.434T>A (p.Phe145Tyr)
| |
| X | g.634774T>C | CA412231483 | SHOX | c.434T>C (p.Phe145Ser)
| |
| X | g.634774T>G | CA412231482 | SHOX | c.434T>G (p.Phe145Cys)
| |
| X | g.634775del | CA2580615350 | SHOX | c.435del (p.Phe145LeufsTer?)
| ClinVar |
| X | g.634775C>A | CA412231484 | SHOX | c.435C>A (p.Phe145Leu)
| |
| X | g.634775C>G | CA412231485 | SHOX | c.435C>G (p.Phe145Leu)
| |
| X | g.634775C>T | CA515393445 | SHOX | c.435C>T (p.Phe145=)
| COSMIC |
| X | g.634776A= | CA2411385760 | SHOX | c.436A= (p.Met146=)
| |
| X | g.634776A>C | CA412231486 | SHOX | c.436A>C (p.Met146Leu)
| gnomAD v4 |
| X | g.634776A>G | CA412231487 | SHOX | c.436A>G (p.Met146Val)
| |
| X | g.634776A>T | CA10329978 | SHOX | c.436A>T (p.Met146Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634777T>A | CA412231488 | SHOX | c.437T>A (p.Met146Lys)
| |
| X | g.634777T>C | CA10329979 | SHOX | c.437T>C (p.Met146Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634777T>G | CA412231489 | SHOX | c.437T>G (p.Met146Arg)
| ClinVar dbSNP gnomAD v4 |
| X | g.634777T= | CA2411385761 | SHOX | c.437T= (p.Met146=)
| |
| X | g.634778G>A | CA412231490 | SHOX | c.438G>A (p.Met146Ile)
| |
| X | g.634778G>C | CA412231491 | SHOX | c.438G>C (p.Met146Ile)
| |
| X | g.634778G>T | CA412231492 | SHOX | c.438G>T (p.Met146Ile)
| |
| X | g.634779C>A | CA412231494 | SHOX | c.439C>A (p.Arg147Ser)
| ClinVar dbSNP |
| X | g.634779C>G | CA412231495 | SHOX | c.439C>G (p.Arg147Gly)
| |
| X | g.634779C>T | CA412231493 | SHOX | c.439C>T (p.Arg147Cys)
| gnomAD v4 |
| X | g.634780G>A | CA325621250 | SHOX | c.440G>A (p.Arg147His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.634780G>C | CA412231497 | SHOX | c.440G>C (p.Arg147Pro)
| gnomAD v4 |
| X | g.634780G= | CA2411385762 | SHOX | c.440G= (p.Arg147=)
| |
| X | g.634780G>T | CA412231496 | SHOX | c.440G>T (p.Arg147Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.634781C>A | CA515393457 | SHOX | c.441C>A (p.Arg147=)
| dbSNP gnomAD v4 |
| X | g.634781C= | CA2411385763 | SHOX | c.441C= (p.Arg147=)
| |
| X | g.634781C>G | CA10329981 | SHOX | c.441C>G (p.Arg147=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634781C>T | CA10329980 | SHOX | c.441C>T (p.Arg147=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634782G>A | CA412231498 | SHOX | c.442G>A (p.Glu148Lys)
| gnomAD v4 |
| X | g.634782G>C | CA412231499 | SHOX | c.442G>C (p.Glu148Gln)
| gnomAD v4 |
| X | g.634782G>T | CA412231500 | SHOX | c.442G>T (p.Glu148Ter)
| ClinVar gnomAD v4 |
| X | g.634783A>C | CA412231501 | SHOX | c.443A>C (p.Glu148Ala)
| |
| X | g.634783A>G | CA412231502 | SHOX | c.443A>G (p.Glu148Gly)
| |
| X | g.634783A>T | CA412231503 | SHOX | c.443A>T (p.Glu148Val)
| |
| X | g.634784G>A | CA515393466 | SHOX | c.444G>A (p.Glu148=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634784G>C | CA412231504 | SHOX | c.444G>C (p.Glu148Asp)
| |
| X | g.634784G= | CA2411385764 | SHOX | c.444G= (p.Glu148=)
| |
| X | g.634784G>T | CA412231505 | SHOX | c.444G>T (p.Glu148Asp)
| COSMIC COSMIC |
| X | g.634785G>A | CA412231506 | SHOX | c.445G>A (p.Glu149Lys)
| dbSNP |
| X | g.634785G>C | CA412231507 | SHOX | c.445G>C (p.Glu149Gln)
| |
| X | g.634785G= | CA2411385765 | SHOX | c.445G= (p.Glu149=)
| |
| X | g.634785G>T | CA412231508 | SHOX | c.445G>T (p.Glu149Ter)
| |
| X | g.634786A= | CA2411385766 | SHOX | c.446A= (p.Glu149=)
| |
| X | g.634786A>C | CA412231509 | SHOX | c.446A>C (p.Glu149Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634786A>G | CA412231511 | SHOX | c.446A>G (p.Glu149Gly)
| |
| X | g.634786A>T | CA412231510 | SHOX | c.446A>T (p.Glu149Val)
| |
| X | g.634787G>A | CA10329982 | SHOX | c.447G>A (p.Glu149=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634787G>C | CA412231512 | SHOX | c.447G>C (p.Glu149Asp)
| gnomAD v4 |
| X | g.634787G= | CA2411385767 | SHOX | c.447G= (p.Glu149=)
| |
| X | g.634787G>T | CA412231513 | SHOX | c.447G>T (p.Glu149Asp)
| |
| X | g.634788del | CA2695231047 | SHOX | c.448del (p.Leu150SerfsTer?)
| |
| X | g.634788C>A | CA412231514 | SHOX | c.448C>A (p.Leu150Ile)
| gnomAD v4 |
| X | g.634788C>G | CA412231515 | SHOX | c.448C>G (p.Leu150Val)
| |
| X | g.634788C>T | CA412231516 | SHOX | c.448C>T (p.Leu150Phe)
| |
| X | g.634789T>A | CA412231517 | SHOX | c.449T>A (p.Leu150His)
| |
| X | g.634789T>C | CA412231518 | SHOX | c.449T>C (p.Leu150Pro)
| gnomAD v4 |
| X | g.634789T>G | CA412231519 | SHOX | c.449T>G (p.Leu150Arg)
| |
| X | g.634790C>A | CA515393492 | SHOX | c.450C>A (p.Leu150=)
| |
| X | g.634790C>G | CA515393493 | SHOX | c.450C>G (p.Leu150=)
| |
| X | g.634790C>T | CA515393494 | SHOX | c.450C>T (p.Leu150=)
| gnomAD v4 |
| X | g.634791A>C | CA412231522 | SHOX | c.451A>C (p.Ser151Arg)
| |
| X | g.634791A>G | CA412231521 | SHOX | c.451A>G (p.Ser151Gly)
| |
| X | g.634791A>T | CA412231520 | SHOX | c.451A>T (p.Ser151Cys)
| |
| X | g.634792G>A | CA412231523 | SHOX | c.452G>A (p.Ser151Asn)
| |
| X | g.634792G>C | CA412231524 | SHOX | c.452G>C (p.Ser151Thr)
| |
| X | g.634792G>T | CA412231525 | SHOX | c.452G>T (p.Ser151Ile)
| |
