X | g.640739C>A | CA2692951679 | SHOX | c.487-82C>A (n.487-82C>A)
| gnomAD v4 |
X | g.640739C>T | CA2692951680 | SHOX | c.487-82C>T (n.487-82C>T)
| gnomAD v4 |
X | g.640740A= | CA2411389693 | SHOX | c.487-81A= (n.487-81A=)
| |
X | g.640740A>G | CA2411389692 | SHOX | c.487-81A>G (n.487-81A>G)
| dbSNP |
X | g.640741G>A | CA2579539623 | SHOX | c.487-80G>A (n.487-80G>A)
| gnomAD v4 |
X | g.640741G>C | CA2692951681 | SHOX | c.487-80G>C (n.487-80G>C)
| gnomAD v4 |
X | g.640741G>T | CA2692951682 | SHOX | c.487-80G>T (n.487-80G>T)
| gnomAD v4 |
X | g.640742C>A | CA1130295000 | SHOX | c.487-79C>A (n.487-79C>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640742C= | CA2411389694 | SHOX | c.487-79C= (n.487-79C=)
| |
X | g.640743C>T | CA2692951683 | SHOX | c.487-78C>T (n.487-78C>T)
| gnomAD v4 |
X | g.640745C>G | CA2692951685 | SHOX | c.487-76C>G (n.487-76C>G)
| gnomAD v4 |
X | g.640746A>C | CA2692951687 | SHOX | c.487-75A>C (n.487-75A>C)
| gnomAD v4 |
X | g.640746A>T | CA2692951688 | SHOX | c.487-75A>T (n.487-75A>T)
| gnomAD v4 |
X | g.640748G>A | CA640120837 | SHOX | c.487-73G>A (n.487-73G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640748G= | CA2411389695 | SHOX | c.487-73G= (n.487-73G=)
| |
X | g.640749G>A | CA1130295004 | SHOX | c.487-72G>A (n.487-72G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640749G= | CA2411389696 | SHOX | c.487-72G= (n.487-72G=)
| |
X | g.640750G>A | CA2411389698 | SHOX | c.487-71G>A (n.487-71G>A)
| dbSNP |
X | g.640750G>C | CA2579539624 | SHOX | c.487-71G>C (n.487-71G>C)
| gnomAD v4 |
X | g.640750G= | CA2411389697 | SHOX | c.487-71G= (n.487-71G=)
| |
X | g.640753G>A | CA2692951691 | SHOX | c.487-68G>A (n.487-68G>A)
| gnomAD v4 |
X | g.640753G>C | CA325623371 | SHOX | c.487-68G>C (n.487-68G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640753G= | CA2411389699 | SHOX | c.487-68G= (n.487-68G=)
| |
X | g.640753G>T | CA2692951692 | SHOX | c.487-68G>T (n.487-68G>T)
| gnomAD v4 |
X | g.640754G>A | CA1130295012 | SHOX | c.487-67G>A (n.487-67G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640754G= | CA2411389700 | SHOX | c.487-67G= (n.487-67G=)
| |
X | g.640755A>G | CA2692951693 | SHOX | c.487-66A>G (n.487-66A>G)
| gnomAD v4 |
X | g.640755A>T | CA2692951694 | SHOX | c.487-66A>T (n.487-66A>T)
| gnomAD v4 |
X | g.640756T>C | CA325623372 | SHOX | c.487-65T>C (n.487-65T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640756T= | CA2411389701 | SHOX | c.487-65T= (n.487-65T=)
| |
X | g.640757G>A | CA325623377 | SHOX | c.487-64G>A (n.487-64G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640757G= | CA2411389702 | SHOX | c.487-64G= (n.487-64G=)
| |
X | g.640758C>A | CA2692951696 | SHOX | c.487-63C>A (n.487-63C>A)
| gnomAD v4 |
X | g.640758C= | CA2411389703 | SHOX | c.487-63C= (n.487-63C=)
| |
X | g.640758C>T | CA2411389704 | SHOX | c.487-63C>T (n.487-63C>T)
| dbSNP gnomAD v4 |
X | g.640760C= | CA2411389705 | SHOX | c.487-61C= (n.487-61C=)
| |
X | g.640760C>G | CA2692951698 | SHOX | c.487-61C>G (n.487-61C>G)
| gnomAD v4 |
X | g.640760C>T | CA325623380 | SHOX | c.487-61C>T (n.487-61C>T)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640761C>A | CA2692951699 | SHOX | c.487-60C>A (n.487-60C>A)
| gnomAD v4 |
X | g.640761C= | CA2411389706 | SHOX | c.487-60C= (n.487-60C=)
| |
X | g.640761C>G | CA2692951700 | SHOX | c.487-60C>G (n.487-60C>G)
| gnomAD v4 |
X | g.640761C>T | CA2411389707 | SHOX | c.487-60C>T (n.487-60C>T)
| dbSNP gnomAD v4 |
X | g.640762C>A | CA2579539625 | SHOX | c.487-59C>A (n.487-59C>A)
| |
X | g.640762C>T | CA2692951701 | SHOX | c.487-59C>T (n.487-59C>T)
| gnomAD v4 |
X | g.640764G>T | CA2579539626 | SHOX | c.487-57G>T (n.487-57G>T)
| |
X | g.640766G>A | CA1130295017 | SHOX | c.487-55G>A (n.487-55G>A)
| gnomAD v3 gnomAD v4 |
X | g.640766G>C | CA2692951702 | SHOX | c.487-55G>C (n.487-55G>C)
| gnomAD v4 |
X | g.640767G>A | CA2692951703 | SHOX | c.487-54G>A (n.487-54G>A)
| gnomAD v4 |
X | g.640767G>C | CA2692951704 | SHOX | c.487-54G>C (n.487-54G>C)
| gnomAD v4 |
X | g.640770G>A | CA2579539627 | SHOX | c.487-51G>A (n.487-51G>A)
| |
X | g.640770G>T | CA2692951705 | SHOX | c.487-51G>T (n.487-51G>T)
| gnomAD v4 |
X | g.640771C= | CA2411389708 | SHOX | c.487-50C= (n.487-50C=)
| |
X | g.640771C>T | CA10330012 | SHOX | c.487-50C>T (n.487-50C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640773G= | CA2411389709 | SHOX | c.487-48G= (n.487-48G=)
| |
X | g.640773G>T | CA325623383 | SHOX | c.487-48G>T (n.487-48G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640774G>C | CA10330013 | SHOX | c.487-47G>C (n.487-47G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640774G= | CA2411389710 | SHOX | c.487-47G= (n.487-47G=)
| |
X | g.640776C>A | CA2692951708 | SHOX | c.487-45C>A (n.487-45C>A)
| gnomAD v4 |
X | g.640776C= | CA2411389711 | SHOX | c.487-45C= (n.487-45C=)
| |
X | g.640776C>G | CA10330014 | SHOX | c.487-45C>G (n.487-45C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.640777T>A | CA2692951709 | SHOX | c.487-44T>A (n.487-44T>A)
| gnomAD v4 |
X | g.640777T>G | CA2411389713 | SHOX | c.487-44T>G (n.487-44T>G)
| dbSNP |
X | g.640777T= | CA2411389712 | SHOX | c.487-44T= (n.487-44T=)
| |
X | g.640779G>A | CA2692951710 | SHOX | c.487-42G>A (n.487-42G>A)
| gnomAD v4 |
X | g.640779G>C | CA640120851 | SHOX | c.487-42G>C (n.487-42G>C)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.640779G= | CA2411389714 | SHOX | c.487-42G= (n.487-42G=)
| |
X | g.640780G>A | CA2579539628 | SHOX | c.487-41G>A (n.487-41G>A)
| |
X | g.640783C= | CA2411389715 | SHOX | c.487-38C= (n.487-38C=)
| |
X | g.640783C>T | CA10330015 | SHOX | c.487-38C>T (n.487-38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640785C= | CA2411389716 | SHOX | c.487-36C= (n.487-36C=)
| |
X | g.640785C>T | CA640120856 | SHOX | c.487-36C>T (n.487-36C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640786A= | CA2411389717 | SHOX | c.487-35A= (n.487-35A=)
| |
X | g.640786A>C | CA877166282 | SHOX | c.487-35A>C (n.487-35A>C)
| dbSNP gnomAD v4 |
X | g.640786A>G | CA2579539629 | SHOX | c.487-35A>G (n.487-35A>G)
| gnomAD v4 |
X | g.640787G>A | CA2692951713 | SHOX | c.487-34G>A (n.487-34G>A)
| gnomAD v4 |
X | g.640788G>A | CA1130295023 | SHOX | c.487-33G>A (n.487-33G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640788G= | CA2411389718 | SHOX | c.487-33G= (n.487-33G=)
| |
X | g.640789G>C | CA515290553 | SHOX | c.487-32G>C (n.487-32G>C)
| dbSNP |
X | g.640789G= | CA2411389719 | SHOX | c.487-32G= (n.487-32G=)
| |
X | g.640790C>T | CA2692951714 | SHOX | c.487-31C>T (n.487-31C>T)
| gnomAD v4 |
X | g.640791T>A | CA2579539630 | SHOX | c.487-30T>A (n.487-30T>A)
| |
X | g.640791T>G | CA1130295025 | SHOX | c.487-30T>G (n.487-30T>G)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640791T= | CA2411389720 | SHOX | c.487-30T= (n.487-30T=)
| |
X | g.640792C= | CA2411389721 | SHOX | c.487-29C= (n.487-29C=)
| |
X | g.640792C>T | CA10330016 | SHOX | c.487-29C>T (n.487-29C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640793T>C | CA2692951716 | SHOX | c.487-28T>C (n.487-28T>C)
| gnomAD v4 |
X | g.640794T>A | CA10330017 | SHOX | c.487-27T>A (n.487-27T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640794T= | CA2411389722 | SHOX | c.487-27T= (n.487-27T=)
| |
X | g.640795C>A | CA1130295032 | SHOX | c.487-26C>A (n.487-26C>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640795C= | CA2411389723 | SHOX | c.487-26C= (n.487-26C=)
| |
X | g.640795C>G | CA2692951719 | SHOX | c.487-26C>G (n.487-26C>G)
| gnomAD v4 |
X | g.640795C>T | CA10330018 | SHOX | c.487-26C>T (n.487-26C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.640796A= | CA2411389724 | SHOX | c.487-25A= (n.487-25A=)
| |
X | g.640796A>G | CA640120869 | SHOX | c.487-25A>G (n.487-25A>G)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.640797C>T | CA2579539631 | SHOX | c.487-24C>T (n.487-24C>T)
| gnomAD v4 |
X | g.640798A= | CA2411389725 | SHOX | c.487-23A= (n.487-23A=)
| |
X | g.640799T>A | CA10330020 | SHOX | c.487-22T>A (n.487-22T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640799T>C | CA515290554 | SHOX | c.487-22T>C (n.487-22T>C)
| gnomAD v4 |
X | g.640799T= | CA2411389726 | SHOX | c.487-22T= (n.487-22T=)
| |
X | g.640806_640807dup | CA10330019 | SHOX | c.487-15_487-14dup (n.487-15_487-14dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.640806_640807del | CA2579539632 | SHOX | c.487-15_487-14del (n.487-15_487-14del)
| |
X | g.640800C>T | CA2692951725 | SHOX | c.487-21C>T (n.487-21C>T)
| gnomAD v4 |
X | g.640802C>A | CA2411389727 | SHOX | c.487-19C>A (n.487-19C>A)
| dbSNP |
X | g.640802C= | CA2411389729 | SHOX | c.487-19C= (n.487-19C=)
| |
X | g.640802C>T | CA2411389728 | SHOX | c.487-19C>T (n.487-19C>T)
| dbSNP |
X | g.640803T>C | CA2692951726 | SHOX | c.487-18T>C (n.487-18T>C)
| gnomAD v4 |
X | g.640804C= | CA2411389730 | SHOX | c.487-17C= (n.487-17C=)
| |
X | g.640804C>T | CA640120876 | SHOX | c.487-17C>T (n.487-17C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.640806C>A | CA640120877 | SHOX | c.487-15C>A (n.487-15C>A)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.640806C= | CA2411389731 | SHOX | c.487-15C= (n.487-15C=)
| |
X | g.640806C>G | CA2819363452 | SHOX | c.487-15C>G (n.487-15C>G)
| |
X | g.640806C>T | CA2411389732 | SHOX | c.487-15C>T (n.487-15C>T)
| dbSNP |
X | g.640808G>A | CA2692951728 | SHOX | c.487-13G>A (n.487-13G>A)
| gnomAD v4 |
X | g.640809C>T | CA2692951729 | SHOX | c.487-12C>T (n.487-12C>T)
| gnomAD v4 |
X | g.640810T>C | CA877166292 | SHOX | c.487-11T>C (n.487-11T>C)
| dbSNP gnomAD v4 |
X | g.640810T= | CA2411389733 | SHOX | c.487-11T= (n.487-11T=)
| |
X | g.640812_640813delinsCT | CA2411389734 | SHOX | c.487-9_487-8delinsCT (n.487-9_487-8delinsCT)
| |
X | g.640813del | CA2411389735 | SHOX | c.487-8del (n.487-8del)
| dbSNP |
X | g.640813T>C | CA2692951732 | SHOX | c.487-8T>C (n.487-8T>C)
| gnomAD v4 |
X | g.640814C>T | CA2692951734 | SHOX | c.487-7C>T (n.487-7C>T)
| gnomAD v4 |
X | g.640816C= | CA2411389736 | SHOX | c.487-5C= (n.487-5C=)
| |
X | g.640816C>G | CA2411389737 | SHOX | c.487-5C>G (n.487-5C>G)
| dbSNP |
X | g.640817C>A | CA640120879 | SHOX | c.487-4C>A (n.487-4C>A)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.640817C= | CA2411389738 | SHOX | c.487-4C= (n.487-4C=)
| |
X | g.640818A>G | CA2692951735 | SHOX | c.487-3A>G (n.487-3A>G)
| gnomAD v4 |
X | g.640819A= | CA2411389739 | SHOX | c.487-2A= (n.487-2A=)
| |
X | g.640819A>C | CA412231601 | SHOX | c.487-2A>C (n.487-2A>C)
| dbSNP |
X | g.640819A>G | CA412231602 | SHOX | c.487-2A>G (n.487-2A>G)
| |
X | g.640819A>T | CA412231603 | SHOX | c.487-2A>T (n.487-2A>T)
| |
X | g.640820G>A | CA412231604 | SHOX | c.487-1G>A (n.487-1G>A)
| |
X | g.640820G>C | CA412231605 | SHOX | c.487-1G>C (n.487-1G>C)
| |
X | g.640820G>T | CA412231606 | SHOX | c.487-1G>T (n.487-1G>T)
| |
X | g.640821G>A | CA412231607 | SHOX | c.487G>A (p.Val163Ile)
| gnomAD v4 |
X | g.640821G>C | CA412231608 | SHOX | c.487G>C (p.Val163Leu)
| |
X | g.640821G>T | CA412231609 | SHOX | c.487G>T (p.Val163Phe)
| |
X | g.640822T>A | CA412231610 | SHOX | c.488T>A (p.Val163Asp)
| |
X | g.640822T>C | CA412231611 | SHOX | c.488T>C (p.Val163Ala)
| gnomAD v4 |
X | g.640822T>G | CA412231612 | SHOX | c.488T>G (p.Val163Gly)
| |
X | g.640823T>A | CA515290555 | SHOX | c.489T>A (p.Val163=)
| |
X | g.640823T>C | CA515290556 | SHOX | c.489T>C (p.Val163=)
| |
X | g.640823T>G | CA515290557 | SHOX | c.489T>G (p.Val163=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.640823T= | CA2411389740 | SHOX | c.489T= (p.Val163=)
| |
X | g.640824T>A | CA412231614 | SHOX | c.490T>A (p.Trp164Arg)
| |
X | g.640824T>C | CA412231615 | SHOX | c.490T>C (p.Trp164Arg)
| |
X | g.640824T>G | CA412231613 | SHOX | c.490T>G (p.Trp164Gly)
| |
X | g.640825G>A | CA412231618 | SHOX | c.491G>A (p.Trp164Ter)
| |
X | g.640825G>C | CA412231616 | SHOX | c.491G>C (p.Trp164Ser)
| |
X | g.640825G>T | CA412231617 | SHOX | c.491G>T (p.Trp164Leu)
| |
X | g.640826G>A | CA412231619 | SHOX | c.492G>A (p.Trp164Ter)
| |
X | g.640826G>C | CA412231620 | SHOX | c.492G>C (p.Trp164Cys)
| |
X | g.640826G>T | CA412231621 | SHOX | c.492G>T (p.Trp164Cys)
| |
X | g.640827T>A | CA412231622 | SHOX | c.493T>A (p.Phe165Ile)
| |
X | g.640827T>C | CA412231623 | SHOX | c.493T>C (p.Phe165Leu)
| gnomAD v4 |
X | g.640827T>G | CA412231624 | SHOX | c.493T>G (p.Phe165Val)
| |
X | g.640828T>A | CA412231625 | SHOX | c.494T>A (p.Phe165Tyr)
| COSMIC |
X | g.640828T>C | CA412231626 | SHOX | c.494T>C (p.Phe165Ser)
| |
X | g.640828T>G | CA412231627 | SHOX | c.494T>G (p.Phe165Cys)
| |
X | g.640829C>A | CA412231628 | SHOX | c.495C>A (p.Phe165Leu)
| ClinVar dbSNP |
X | g.640829C= | CA2411389741 | SHOX | c.495C= (p.Phe165=)
| |
X | g.640829C>G | CA412231629 | SHOX | c.495C>G (p.Phe165Leu)
| |
X | g.640829C>T | CA515290560 | SHOX | c.495C>T (p.Phe165=)
| dbSNP |
X | g.640830C>A | CA412231632 | SHOX | c.496C>A (p.Gln166Lys)
| |
X | g.640830C>G | CA412231630 | SHOX | c.496C>G (p.Gln166Glu)
| |
X | g.640830C>T | CA412231631 | SHOX | c.496C>T (p.Gln166Ter)
| |
X | g.640831A>C | CA412231633 | SHOX | c.497A>C (p.Gln166Pro)
| |
X | g.640831A>G | CA412231634 | SHOX | c.497A>G (p.Gln166Arg)
| |
X | g.640831A>T | CA412231635 | SHOX | c.497A>T (p.Gln166Leu)
| |
X | g.640832G>A | CA515290563 | SHOX | c.498G>A (p.Gln166=)
| |
X | g.640832G>C | CA412231636 | SHOX | c.498G>C (p.Gln166His)
| |
X | g.640832G>T | CA412231637 | SHOX | c.498G>T (p.Gln166His)
| |
X | g.640833A>C | CA412231638 | SHOX | c.499A>C (p.Asn167His)
| |
X | g.640833A>G | CA412231639 | SHOX | c.499A>G (p.Asn167Asp)
| |
X | g.640833A>T | CA412231640 | SHOX | c.499A>T (p.Asn167Tyr)
| |
X | g.640834A>C | CA412231641 | SHOX | c.500A>C (p.Asn167Thr)
| |
X | g.640834A>G | CA412231642 | SHOX | c.500A>G (p.Asn167Ser)
| |
X | g.640834A>T | CA412231643 | SHOX | c.500A>T (p.Asn167Ile)
| |
X | g.640835C>A | CA412231644 | SHOX | c.501C>A (p.Asn167Lys)
| |
X | g.640835C= | CA2411389742 | SHOX | c.501C= (p.Asn167=)
| |
X | g.640835C>G | CA412231645 | SHOX | c.501C>G (p.Asn167Lys)
| COSMIC COSMIC |
X | g.640835C>T | CA515290580 | SHOX | c.501C>T (p.Asn167=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.640836C>A | CA515290587 | SHOX | c.502C>A (p.Arg168=)
| |
X | g.640836C= | CA2411389743 | SHOX | c.502C= (p.Arg168=)
| |
X | g.640836C>G | CA412231646 | SHOX | c.502C>G (p.Arg168Gly)
| |
X | g.640836C>T | CA212923 | SHOX | c.502C>T (p.Arg168Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.640837G>A | CA412231647 | SHOX | c.503G>A (p.Arg168Gln)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.640837G>C | CA412231648 | SHOX | c.503G>C (p.Arg168Pro)
| |
X | g.640837G= | CA2411389744 | SHOX | c.503G= (p.Arg168=)
| |
X | g.640837G>T | CA412231649 | SHOX | c.503G>T (p.Arg168Leu)
| |
X | g.640838del | CA2695231052 | SHOX | c.504del (p.Arg169GlufsTer23)
| |