| 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)
| |
| X | g.640838G>A | CA10330021 | SHOX | c.504G>A (p.Arg168=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640838G>C | CA515290602 | SHOX | c.504G>C (p.Arg168=)
| |
| X | g.640838G= | CA2411389745 | SHOX | c.504G= (p.Arg168=)
| |
| X | g.640838G>T | CA515290605 | SHOX | c.504G>T (p.Arg168=)
| COSMIC |
| X | g.640839A>C | CA515290609 | SHOX | c.505A>C (p.Arg169=)
| |
| X | g.640839A>G | CA412231650 | SHOX | c.505A>G (p.Arg169Gly)
| |
| X | g.640839A>T | CA412231651 | SHOX | c.505A>T (p.Arg169Ter)
| |
| X | g.640840G>A | CA412231654 | SHOX | c.506G>A (p.Arg169Lys)
| ClinVar dbSNP |
| X | g.640840G>C | CA412231652 | SHOX | c.506G>C (p.Arg169Thr)
| |
| X | g.640840G= | CA2411389746 | SHOX | c.506G= (p.Arg169=)
| |
| X | g.640840G>T | CA412231653 | SHOX | c.506G>T (p.Arg169Ile)
| |
| X | g.640841A>C | CA412231655 | SHOX | c.507A>C (p.Arg169Ser)
| |
| X | g.640841A>G | CA515290622 | SHOX | c.507A>G (p.Arg169=)
| |
| X | g.640841A>T | CA412231656 | SHOX | c.507A>T (p.Arg169Ser)
| |
| X | g.640842G>A | CA412231657 | SHOX | c.508G>A (p.Ala170Thr)
| |
| X | g.640842G>C | CA128820 | SHOX | c.508G>C (p.Ala170Pro)
| ClinVar dbSNP |
| X | g.640842G= | CA2411389747 | SHOX | c.508G= (p.Ala170=)
| |
| X | g.640842G>T | CA412231658 | SHOX | c.508G>T (p.Ala170Ser)
| |
| X | g.640843C>A | CA259732 | SHOX | c.509C>A (p.Ala170Asp)
| ClinVar dbSNP gnomAD v4 |
| X | g.640843C= | CA2411389748 | SHOX | c.509C= (p.Ala170=)
| |
| X | g.640843C>G | CA412231660 | SHOX | c.509C>G (p.Ala170Gly)
| |
| X | g.640843C>T | CA412231659 | SHOX | c.509C>T (p.Ala170Val)
| |
| X | g.640844C>A | CA515290637 | SHOX | c.510C>A (p.Ala170=)
| |
| X | g.640844C>G | CA515290639 | SHOX | c.510C>G (p.Ala170=)
| |
| X | g.640844C>T | CA515290641 | SHOX | c.510C>T (p.Ala170=)
| |
| X | g.640845A>C | CA412231661 | SHOX | c.511A>C (p.Lys171Gln)
| |
| X | g.640845A>G | CA412231662 | SHOX | c.511A>G (p.Lys171Glu)
| |
| X | g.640845A>T | CA412231663 | SHOX | c.511A>T (p.Lys171Ter)
| |
| X | g.640846A>C | CA412231664 | SHOX | c.512A>C (p.Lys171Thr)
| |
| X | g.640846A>G | CA412231665 | SHOX | c.512A>G (p.Lys171Arg)
| |
| X | g.640846A>T | CA412231666 | SHOX | c.512A>T (p.Lys171Met)
| |
| X | g.640847G>A | CA515290655 | SHOX | c.513G>A (p.Lys171=)
| |
| X | g.640847G>C | CA412231667 | SHOX | c.513G>C (p.Lys171Asn)
| gnomAD v4 |
| X | g.640847G>T | CA412231668 | SHOX | c.513G>T (p.Lys171Asn)
| |
| X | g.640848T>A | CA412231669 | SHOX | c.514T>A (p.Cys172Ser)
| |
| X | g.640848T>C | CA412231670 | SHOX | c.514T>C (p.Cys172Arg)
| |
| X | g.640848T>G | CA412231671 | SHOX | c.514T>G (p.Cys172Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.640848T= | CA2411389749 | SHOX | c.514T= (p.Cys172=)
| |
| X | g.640849G>A | CA412231674 | SHOX | c.515G>A (p.Cys172Tyr)
| |
| X | g.640849G>C | CA412231673 | SHOX | c.515G>C (p.Cys172Ser)
| |
| X | g.640849G>T | CA412231672 | SHOX | c.515G>T (p.Cys172Phe)
| |
| X | g.640850C>A | CA412231675 | SHOX | c.516C>A (p.Cys172Ter)
| |
| X | g.640850C= | CA2411389750 | SHOX | c.516C= (p.Cys172=)
| |
| X | g.640850C>G | CA412231676 | SHOX | c.516C>G (p.Cys172Trp)
| |
| X | g.640850C>T | CA10330022 | SHOX | c.516C>T (p.Cys172=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640851C>A | CA412231677 | SHOX | c.517C>A (p.Arg173Ser)
| gnomAD v4 |
| X | g.640851C= | CA2411389751 | SHOX | c.517C= (p.Arg173=)
| |
| X | g.640851C>G | CA412231678 | SHOX | c.517C>G (p.Arg173Gly)
| gnomAD v4 |
| X | g.640851C>T | CA254919 | SHOX | c.517C>T (p.Arg173Cys)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.640852G>A | CA10330023 | SHOX | c.518G>A (p.Arg173His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640852G>C | CA412231679 | SHOX | c.518G>C (p.Arg173Pro)
| |
| X | g.640852G= | CA2411389752 | SHOX | c.518G= (p.Arg173=)
| |
| X | g.640852G>T | CA412231680 | SHOX | c.518G>T (p.Arg173Leu)
| |
| X | g.640853C>A | CA515290697 | SHOX | c.519C>A (p.Arg173=)
| |
| X | g.640853C>G | CA515290699 | SHOX | c.519C>G (p.Arg173=)
| |
| X | g.640853C>T | CA515290700 | SHOX | c.519C>T (p.Arg173=)
| |
| X | g.640854A>C | CA412231681 | SHOX | c.520A>C (p.Lys174Gln)
| |
| X | g.640854A>G | CA412231682 | SHOX | c.520A>G (p.Lys174Glu)
| |
| X | g.640854A>T | CA412231683 | SHOX | c.520A>T (p.Lys174Ter)
| |
| X | g.640855A>C | CA412231686 | SHOX | c.521A>C (p.Lys174Thr)
| |
| X | g.640855A>G | CA412231684 | SHOX | c.521A>G (p.Lys174Arg)
| |
| X | g.640855A>T | CA412231685 | SHOX | c.521A>T (p.Lys174Ile)
| |
| X | g.640856A>C | CA412231687 | SHOX | c.522A>C (p.Lys174Asn)
| |
| X | g.640856A>G | CA515290711 | SHOX | c.522A>G (p.Lys174=)
| |
| X | g.640856A>T | CA412231688 | SHOX | c.522A>T (p.Lys174Asn)
| |
| X | g.640857C>A | CA412231689 | SHOX | c.523C>A (p.Gln175Lys)
| |
| X | g.640857C= | CA2411389753 | SHOX | c.523C= (p.Gln175=)
| |
| X | g.640857C>G | CA412231690 | SHOX | c.523C>G (p.Gln175Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.640857C>T | CA412231691 | SHOX | c.523C>T (p.Gln175Ter)
| |
| X | g.640858A>C | CA412231692 | SHOX | c.524A>C (p.Gln175Pro)
| |
| X | g.640858A>G | CA412231694 | SHOX | c.524A>G (p.Gln175Arg)
| |
| X | g.640858A>T | CA412231693 | SHOX | c.524A>T (p.Gln175Leu)
| |
| X | g.640859A= | CA2411389754 | SHOX | c.525A= (p.Gln175=)
| |
| X | g.640859A>C | CA412231695 | SHOX | c.525A>C (p.Gln175His)
| |
| X | g.640859A>G | CA515290723 | SHOX | c.525A>G (p.Gln175=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640859A>T | CA412231696 | SHOX | c.525A>T (p.Gln175His)
| |
| X | g.640860G>A | CA412231697 | SHOX | c.526G>A (p.Glu176Lys)
| |
| X | g.640860G>C | CA412231698 | SHOX | c.526G>C (p.Glu176Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.640860G= | CA2411389755 | SHOX | c.526G= (p.Glu176=)
| |
| X | g.640860G>T | CA412231699 | SHOX | c.526G>T (p.Glu176Ter)
| |
| X | g.640861A>C | CA412231700 | SHOX | c.527A>C (p.Glu176Ala)
| |
| X | g.640861A>G | CA412231701 | SHOX | c.527A>G (p.Glu176Gly)
| |
| X | g.640861A>T | CA412231702 | SHOX | c.527A>T (p.Glu176Val)
| |
| X | g.640862G>A | CA515290737 | SHOX | c.528G>A (p.Glu176=)
| |
| X | g.640862G>C | CA325623412 | SHOX | c.528G>C (p.Glu176Asp)
| ClinVar dbSNP |
| X | g.640862G= | CA412231703 | SHOX | c.528G= (p.Glu176=)
| |
| X | g.640862G>T | CA10330024 | SHOX | c.528G>T (p.Glu176Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640863A>C | CA412231704 | SHOX | c.529A>C (p.Asn177His)
| |
| X | g.640863A>G | CA412231706 | SHOX | c.529A>G (p.Asn177Asp)
| |
| X | g.640863A>T | CA412231705 | SHOX | c.529A>T (p.Asn177Tyr)
| |
| X | g.640864A>C | CA412231707 | SHOX | c.530A>C (p.Asn177Thr)
| |
| X | g.640864A>G | CA412231708 | SHOX | c.530A>G (p.Asn177Ser)
| |
| X | g.640864A>T | CA412231709 | SHOX | c.530A>T (p.Asn177Ile)
| |
