| 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)
| |
| X | g.634793C>A | CA412231526 | SHOX | c.453C>A (p.Ser151Arg)
| |
| X | g.634793C= | CA2411385768 | SHOX | c.453C= (p.Ser151=)
| |
| X | g.634793C>G | CA412231527 | SHOX | c.453C>G (p.Ser151Arg)
| |
| X | g.634793C>T | CA10329983 | SHOX | c.453C>T (p.Ser151=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634794C>A | CA412231528 | SHOX | c.454C>A (p.Gln152Lys)
| gnomAD v4 |
| X | g.634794C>G | CA412231529 | SHOX | c.454C>G (p.Gln152Glu)
| |
| X | g.634794C>T | CA412231530 | SHOX | c.454C>T (p.Gln152Ter)
| ClinVar gnomAD v4 |
| X | g.634794_634795dup | CA640360111 | SHOX | c.454_455dup (p.Gln152HisfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634795A>C | CA412231531 | SHOX | c.455A>C (p.Gln152Pro)
| |
| X | g.634795A>G | CA412231532 | SHOX | c.455A>G (p.Gln152Arg)
| |
| X | g.634795A>T | CA412231533 | SHOX | c.455A>T (p.Gln152Leu)
| |
| X | g.634795_634796insACTACTCAGGAGTGAGAAGATCACTTGAGT | CA2692951364 | SHOX | c.455_456insACTACTCAGGAGTGAGAAGATCACTTGAGT (p.Gln153LeufsTer9)
| gnomAD v4 |
| X | g.634796G>A | CA10329984 | SHOX | c.456G>A (p.Gln152=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634796G>C | CA412231534 | SHOX | c.456G>C (p.Gln152His)
| gnomAD v4 |
| X | g.634796G= | CA2411385769 | SHOX | c.456G= (p.Gln152=)
| |
| X | g.634796G>T | CA412231535 | SHOX | c.456G>T (p.Gln152His)
| |
| X | g.634797C>A | CA412231536 | SHOX | c.457C>A (p.Arg153Ser)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.634797C= | CA2411385770 | SHOX | c.457C= (p.Arg153=)
| |
| X | g.634797C>G | CA412231537 | SHOX | c.457C>G (p.Arg153Gly)
| |
| X | g.634797C>T | CA412231538 | SHOX | c.457C>T (p.Arg153Cys)
| gnomAD v4 COSMIC COSMIC |
| X | g.634797_634800dup | CA2692951365 | SHOX | c.457_460dup (p.Leu154ProfsTer29)
| gnomAD v4 |
| X | g.634797_634798insAAA | CA2692951366 | SHOX | c.457_458insAAA (p.Arg153delinsGlnSer)
| gnomAD v4 |
| X | g.634798G>A | CA412231539 | SHOX | c.458G>A (p.Arg153His)
| |
| X | g.634798G>C | CA412231540 | SHOX | c.458G>C (p.Arg153Pro)
| |
| X | g.634798G= | CA2411385771 | SHOX | c.458G= (p.Arg153=)
| |
| X | g.634798G>T | CA254916 | SHOX | c.458G>T (p.Arg153Leu)
| dbSNP |
| X | g.634798_634799insTTCAAAGCTGCAATGACCTGTAATTATA | CA2692951368 | SHOX | c.458_459insTTCAAAGCTGCAATGACCTGTAATTATA (p.Leu154SerfsTer5)
| gnomAD v4 |
| X | g.634799C>A | CA515393510 | SHOX | c.459C>A (p.Arg153=)
| |
| X | g.634799C= | CA2411385772 | SHOX | c.459C= (p.Arg153=)
| |
| X | g.634799C>G | CA515393513 | SHOX | c.459C>G (p.Arg153=)
| |
| X | g.634799C>T | CA515393512 | SHOX | c.459C>T (p.Arg153=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634800C>A | CA412231541 | SHOX | c.460C>A (p.Leu154Met)
| gnomAD v4 |
| X | g.634800C>G | CA412231542 | SHOX | c.460C>G (p.Leu154Val)
| |
| X | g.634800C>T | CA515393516 | SHOX | c.460C>T (p.Leu154=)
| |
| X | g.634801T>A | CA412231543 | SHOX | c.461T>A (p.Leu154Gln)
| gnomAD v4 |
| X | g.634801T>C | CA412231544 | SHOX | c.461T>C (p.Leu154Pro)
| ClinVar gnomAD v4 |
| X | g.634801T>G | CA412231545 | SHOX | c.461T>G (p.Leu154Arg)
| gnomAD v4 |
| X | g.634802G>A | CA10329985 | SHOX | c.462G>A (p.Leu154=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634802G>C | CA515393521 | SHOX | c.462G>C (p.Leu154=)
| gnomAD v4 |
| X | g.634802G= | CA2411385773 | SHOX | c.462G= (p.Leu154=)
| |
| X | g.634802G>T | CA515393522 | SHOX | c.462G>T (p.Leu154=)
| dbSNP gnomAD v4 |
| X | g.634803G>A | CA412231547 | SHOX | c.463G>A (p.Gly155Arg)
| |
| X | g.634803G>C | CA10329986 | SHOX | c.463G>C (p.Gly155Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634803G= | CA2411385774 | SHOX | c.463G= (p.Gly155=)
| |
| X | g.634803G>T | CA412231546 | SHOX | c.463G>T (p.Gly155Trp)
| ClinVar dbSNP gnomAD v4 |
| X | g.634804G>A | CA412231549 | SHOX | c.464G>A (p.Gly155Glu)
| gnomAD v4 |
| X | g.634804G>C | CA412231548 | SHOX | c.464G>C (p.Gly155Ala)
| |
| X | g.634804G>T | CA412231550 | SHOX | c.464G>T (p.Gly155Val)
| ClinVar gnomAD v4 |
| X | g.634805G>A | CA10329987 | SHOX | c.465G>A (p.Gly155=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634805G>C | CA515393529 | SHOX | c.465G>C (p.Gly155=)
| |
| X | g.634805G= | CA2411385775 | SHOX | c.465G= (p.Gly155=)
| |
| X | g.634805G>T | CA515393531 | SHOX | c.465G>T (p.Gly155=)
| |
| X | g.634806C>A | CA412231551 | SHOX | c.466C>A (p.Leu156Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634806C= | CA2411385776 | SHOX | c.466C= (p.Leu156=)
| |
| X | g.634806C>G | CA412231552 | SHOX | c.466C>G (p.Leu156Val)
| |
| X | g.634806C>T | CA412231553 | SHOX | c.466C>T (p.Leu156Phe)
| |
| X | g.634807T>A | CA412231554 | SHOX | c.467T>A (p.Leu156His)
| |
| X | g.634807T>C | CA412231555 | SHOX | c.467T>C (p.Leu156Pro)
| |
| X | g.634807T>G | CA412231556 | SHOX | c.467T>G (p.Leu156Arg)
| |
| X | g.634808C>A | CA515393537 | SHOX | c.468C>A (p.Leu156=)
| gnomAD v4 |
| X | g.634808C= | CA2411385777 | SHOX | c.468C= (p.Leu156=)
| |
| X | g.634808C>G | CA515393538 | SHOX | c.468C>G (p.Leu156=)
| dbSNP gnomAD v2 |
| X | g.634808C>T | CA515393539 | SHOX | c.468C>T (p.Leu156=)
| gnomAD v4 |
| X | g.634809T>A | CA412231559 | SHOX | c.469T>A (p.Ser157Thr)
| |
| X | g.634809T>C | CA412231557 | SHOX | c.469T>C (p.Ser157Pro)
| gnomAD v4 |
| X | g.634809T>G | CA412231558 | SHOX | c.469T>G (p.Ser157Ala)
| |
| X | g.634810C>A | CA412231560 | SHOX | c.470C>A (p.Ser157Tyr)
| |
| X | g.634810C>G | CA412231561 | SHOX | c.470C>G (p.Ser157Cys)
| |
| X | g.634810C>T | CA412231562 | SHOX | c.470C>T (p.Ser157Phe)
| |
| X | g.634811C>A | CA515393550 | SHOX | c.471C>A (p.Ser157=)
| gnomAD v4 |
| X | g.634811C= | CA2411385778 | SHOX | c.471C= (p.Ser157=)
| |
| X | g.634811C>G | CA10329988 | SHOX | c.471C>G (p.Ser157=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.634811C>T | CA10329989 | SHOX | c.471C>T (p.Ser157=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634812del | CA2695231048 | SHOX | c.472del (p.Glu158ArgfsTer?)
| |
| X | g.634812G>A | CA412231563 | SHOX | c.472G>A (p.Glu158Lys)
| |
| X | g.634812G>C | CA412231565 | SHOX | c.472G>C (p.Glu158Gln)
| gnomAD v4 |
| X | g.634812G>T | CA412231564 | SHOX | c.472G>T (p.Glu158Ter)
| gnomAD v4 |
| X | g.634813A>C | CA412231566 | SHOX | c.473A>C (p.Glu158Ala)
| |
| X | g.634813A>G | CA412231567 | SHOX | c.473A>G (p.Glu158Gly)
| gnomAD v4 |
| X | g.634813A>T | CA412231568 | SHOX | c.473A>T (p.Glu158Val)
| |
| X | g.634814G>A | CA515393559 | SHOX | c.474G>A (p.Glu158=)
| |
| X | g.634814G>C | CA412231569 | SHOX | c.474G>C (p.Glu158Asp)
| gnomAD v4 |
| X | g.634814G>T | CA412231570 | SHOX | c.474G>T (p.Glu158Asp)
| |
| X | g.634815G>A | CA10329990 | SHOX | c.475G>A (p.Ala159Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634815G>C | CA412231571 | SHOX | c.475G>C (p.Ala159Pro)
| |
| X | g.634815G= | CA2411385779 | SHOX | c.475G= (p.Ala159=)
| |
| X | g.634815G>T | CA412231572 | SHOX | c.475G>T (p.Ala159Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634816C>A | CA412231573 | SHOX | c.476C>A (p.Ala159Glu)
| gnomAD v4 |
| X | g.634816C= | CA2411385780 | SHOX | c.476C= (p.Ala159=)
| |
| X | g.634816C>G | CA412231574 | SHOX | c.476C>G (p.Ala159Gly)
| |
| X | g.634816C>T | CA412231575 | SHOX | c.476C>T (p.Ala159Val)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634817G>A | CA10329991 | SHOX | c.477G>A (p.Ala159=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634817G>C | CA515393567 | SHOX | c.477G>C (p.Ala159=)
| |
| X | g.634817G= | CA2411385781 | SHOX | c.477G= (p.Ala159=)
| |
| X | g.634817G>T | CA325621292 | SHOX | c.477G>T (p.Ala159=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634818C>A | CA412231576 | SHOX | c.478C>A (p.Arg160Ser)
| dbSNP gnomAD v4 |
| X | g.634818C= | CA2411385782 | SHOX | c.478C= (p.Arg160=)
| |
| X | g.634818C>G | CA412231577 | SHOX | c.478C>G (p.Arg160Gly)
| |
| X | g.634818C>T | CA10329992 | SHOX | c.478C>T (p.Arg160Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.634819G>A | CA412231578 | SHOX | c.479G>A (p.Arg160His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.634819G>C | CA412231579 | SHOX | c.479G>C (p.Arg160Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.634819G= | CA2411385783 | SHOX | c.479G= (p.Arg160=)
| |
| X | g.634819G>T | CA412231580 | SHOX | c.479G>T (p.Arg160Leu)
| gnomAD v4 |
| X | g.634820C>A | CA515393583 | SHOX | c.480C>A (p.Arg160=)
| |
| X | g.634820C= | CA2411385784 | SHOX | c.480C= (p.Arg160=)
| |
| X | g.634820C>G | CA515393581 | SHOX | c.480C>G (p.Arg160=)
| |
| X | g.634820C>T | CA515393580 | SHOX | c.480C>T (p.Arg160=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634820_634821insA | CA2695231050 | SHOX | c.480_481insA (p.Val161SerfsTer21)
| |
| X | g.634821G>A | CA412231581 | SHOX | c.481G>A (p.Val161Met)
| dbSNP gnomAD v4 |
| X | g.634821G>C | CA412231582 | SHOX | c.481G>C (p.Val161Leu)
| gnomAD v4 |
| X | g.634821G= | CA2411385785 | SHOX | c.481G= (p.Val161=)
| |
| X | g.634821G>T | CA412231583 | SHOX | c.481G>T (p.Val161Leu)
| |
| X | g.634822_634823dup | CA2695231049 | SHOX | c.482_483dup (p.Gln162CysfsTer?)
| |
| X | g.634822T>A | CA412231584 | SHOX | c.482T>A (p.Val161Glu)
| gnomAD v4 |
| X | g.634822T>C | CA412231585 | SHOX | c.482T>C (p.Val161Ala)
| gnomAD v4 |
| X | g.634822T>G | CA412231586 | SHOX | c.482T>G (p.Val161Gly)
| |
| X | g.634823G>A | CA515393592 | SHOX | c.483G>A (p.Val161=)
| dbSNP gnomAD v2 |
| X | g.634823G>C | CA515393594 | SHOX | c.483G>C (p.Val161=)
| gnomAD v4 |
| X | g.634823G= | CA2411385786 | SHOX | c.483G= (p.Val161=)
| |
| X | g.634823G>T | CA515393595 | SHOX | c.483G>T (p.Val161=)
| dbSNP gnomAD v4 |
| X | g.634824C>A | CA412231587 | SHOX | c.484C>A (p.Gln162Lys)
| |
| X | g.634824C>G | CA412231588 | SHOX | c.484C>G (p.Gln162Glu)
| |
| X | g.634824C>T | CA412231589 | SHOX | c.484C>T (p.Gln162Ter)
| gnomAD v4 |
| X | g.634825A>C | CA412231592 | SHOX | c.485A>C (p.Gln162Pro)
| |
| X | g.634825A>G | CA412231590 | SHOX | c.485A>G (p.Gln162Arg)
| |
| X | g.634825A>T | CA412231591 | SHOX | c.485A>T (p.Gln162Leu)
| gnomAD v4 |
| X | g.634826G>A | CA515393604 | SHOX | c.486G>A (p.Gln162=)
| |
| X | g.634826G>C | CA412231593 | SHOX | c.486G>C (p.Gln162His)
| ClinVar |
| X | g.634826G>T | CA412231594 | SHOX | c.486G>T (p.Gln162His)
| gnomAD v4 |
| X | g.634827del | CA2695231051 | SHOX | c.486+1del
| |
| X | g.634827G>A | CA412231595 | SHOX | c.486+1G>A (n.486+1G>A)
| |
| X | g.634827G>C | CA412231596 | SHOX | c.486+1G>C (n.486+1G>C)
| |
| X | g.634827G>T | CA412231597 | SHOX | c.486+1G>T (n.486+1G>T)
| |
| X | g.634828T>A | CA412231598 | SHOX | c.486+2T>A (n.486+2T>A)
| |
| X | g.634828T>C | CA412231599 | SHOX | c.486+2T>C (n.486+2T>C)
| |
| X | g.634828T>G | CA412231600 | SHOX | c.486+2T>G (n.486+2T>G)
| |
| X | g.634829A= | CA2411385787 | SHOX | c.486+3A= (n.486+3A=)
| |
| X | g.634829A>G | CA640360112 | SHOX | c.486+3A>G (n.486+3A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634829A>T | CA2692951381 | SHOX | c.486+3A>T (n.486+3A>T)
| gnomAD v4 |
| X | g.634830G>A | CA10329993 | SHOX | c.486+4G>A (n.486+4G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634830G>C | CA325621308 | SHOX | c.486+4G>C (n.486+4G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634830G= | CA2411385788 | SHOX | c.486+4G= (n.486+4G=)
| |
| X | g.634831G>A | CA2579539582 | SHOX | c.486+5G>A (n.486+5G>A)
| ClinVar |
| X | g.634831G>C | CA325621314 | SHOX | c.486+5G>C (n.486+5G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634831G= | CA2411385789 | SHOX | c.486+5G= (n.486+5G=)
| |
| X | g.634832A= | CA2411385790 | SHOX | c.486+6A= (n.486+6A=)
| |
| X | g.634832A>G | CA640117892 | SHOX | c.486+6A>G (n.486+6A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634833A= | CA2411385792 | SHOX | c.486+7A= (n.486+7A=)
| |
| X | g.634833A>C | CA1130292528 | SHOX | c.486+7A>C (n.486+7A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634833A>G | CA2692951384 | SHOX | c.486+7A>G (n.486+7A>G)
| gnomAD v4 |
| X | g.634833_634834delinsAC | CA2411385791 | SHOX | c.486+7_486+8delinsAC (n.486+7_486+8delinsAC)
| |
| X | g.634834C>A | CA640117897 | SHOX | c.486+8C>A (n.486+8C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634834C= | CA2411385793 | SHOX | c.486+8C= (n.486+8C=)
| |
| X | g.634834C>G | CA10329994 | SHOX | c.486+8C>G (n.486+8C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634834C>T | CA10329995 | SHOX | c.486+8C>T (n.486+8C>T)
| dbSNP ExAC gnomAD v2 |
| X | g.634836del | CA877047795 | SHOX | c.486+10del (n.486+10del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634835C>A | CA2692951385 | SHOX | c.486+9C>A (n.486+9C>A)
| gnomAD v4 |
| X | g.634835C= | CA2411385794 | SHOX | c.486+9C= (n.486+9C=)
| |
| X | g.634835C>G | CA640117904 | SHOX | c.486+9C>G (n.486+9C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634835C>T | CA640117905 | SHOX | c.486+9C>T (n.486+9C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634836C>A | CA2692951386 | SHOX | c.486+10C>A (n.486+10C>A)
| gnomAD v4 |
| X | g.634836C= | CA2411385795 | SHOX | c.486+10C= (n.486+10C=)
| |
| X | g.634836C>G | CA2579539583 | SHOX | c.486+10C>G (n.486+10C>G)
| gnomAD v4 |
| X | g.634836C>T | CA640117909 | SHOX | c.486+10C>T (n.486+10C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634848_634853dup | CA640117908 | SHOX | c.486+22_486+27dup (n.486+22_486+27dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634848_634853del | CA2579539584 | SHOX | c.486+22_486+27del (n.486+22_486+27del)
| gnomAD v4 |
| X | g.634837G>A | CA640117912 | SHOX | c.486+11G>A (n.486+11G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634837G>C | CA10329996 | SHOX | c.486+11G>C (n.486+11G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634837G= | CA2411385796 | SHOX | c.486+11G= (n.486+11G=)
| |
| X | g.634837G>T | CA2411385797 | SHOX | c.486+11G>T (n.486+11G>T)
| dbSNP gnomAD v4 |
| X | g.634841dup | CA2692951389 | SHOX | c.486+15dup (n.486+15dup)
| gnomAD v4 |
| X | g.634841del | CA2692951390 | SHOX | c.486+15del (n.486+15del)
| gnomAD v4 |
| X | g.634838G>A | CA325621324 | SHOX | c.486+12G>A (n.486+12G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634838G>C | CA10329997 | SHOX | c.486+12G>C (n.486+12G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634838G= | CA2411385798 | SHOX | c.486+12G= (n.486+12G=)
| |
| X | g.634838G>T | CA640117919 | SHOX | c.486+12G>T (n.486+12G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634839G>A | CA325621330 | SHOX | c.486+13G>A (n.486+13G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634839G>C | CA2692951392 | SHOX | c.486+13G>C (n.486+13G>C)
| gnomAD v4 |
| X | g.634839G= | CA2411385799 | SHOX | c.486+13G= (n.486+13G=)
| |
| X | g.634840G>A | CA10329998 | SHOX | c.486+14G>A (n.486+14G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634840G= | CA2411385800 | SHOX | c.486+14G= (n.486+14G=)
| |
| X | g.634840G>T | CA640117928 | SHOX | c.486+14G>T (n.486+14G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634841G>A | CA877047813 | SHOX | c.486+15G>A (n.486+15G>A)
| dbSNP gnomAD v4 |
| X | g.634841G= | CA2411385801 | SHOX | c.486+15G= (n.486+15G=)
| |
| X | g.634841G>T | CA10329999 | SHOX | c.486+15G>T (n.486+15G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634843_634901del | CA2692951394 | SHOX | c.486+17_486+75del (n.486+17_486+75del)
| gnomAD v4 |
| X | g.634842C>A | CA2411385803 | SHOX | c.486+16C>A (n.486+16C>A)
| dbSNP gnomAD v4 |
| X | g.634842C= | CA2411385802 | SHOX | c.486+16C= (n.486+16C=)
| |
| X | g.634842C>G | CA640117935 | SHOX | c.486+16C>G (n.486+16C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634842C>T | CA325621341 | SHOX | c.486+16C>T (n.486+16C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634843G>A | CA2692951397 | SHOX | c.486+17G>A (n.486+17G>A)
| gnomAD v4 |
| X | g.634843G= | CA2411385804 | SHOX | c.486+17G= (n.486+17G=)
| |
| X | g.634843G>T | CA325621344 | SHOX | c.486+17G>T (n.486+17G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634847dup | CA2692951396 | SHOX | c.486+21dup (n.486+21dup)
| gnomAD v4 |
| X | g.634847del | CA640117938 | SHOX | c.486+21del (n.486+21del)
| gnomAD v2 gnomAD v4 |
| X | g.634849_634855del | CA2692951398 | SHOX | c.486+23_486+29del (n.486+23_486+29del)
| gnomAD v4 |
| X | g.634844G>A | CA2692951400 | SHOX | c.486+18G>A (n.486+18G>A)
| gnomAD v4 |
| X | g.634844G>C | CA2692951401 | SHOX | c.486+18G>C (n.486+18G>C)
| gnomAD v4 |
| X | g.634845G>A | CA10330000 | SHOX | c.486+19G>A (n.486+19G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634845G>C | CA640117944 | SHOX | c.486+19G>C (n.486+19G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634845G= | CA2411385805 | SHOX | c.486+19G= (n.486+19G=)
| |
| X | g.634846G>A | CA640117945 | SHOX | c.486+20G>A (n.486+20G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634846G>C | CA877047824 | SHOX | c.486+20G>C (n.486+20G>C)
| dbSNP |
| X | g.634846G= | CA2411385806 | SHOX | c.486+20G= (n.486+20G=)
| |
| X | g.634846G>T | CA2411385807 | SHOX | c.486+20G>T (n.486+20G>T)
| dbSNP |
| X | g.634847G>A | CA10330001 | SHOX | c.486+21G>A (n.486+21G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634847G>C | CA2692951402 | SHOX | c.486+21G>C (n.486+21G>C)
| dbSNP gnomAD v4 |
| X | g.634847G= | CA2411385808 | SHOX | c.486+21G= (n.486+21G=)
| |
| X | g.634847G>T | CA10330002 | SHOX | c.486+21G>T (n.486+21G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
