| 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)
| |
| X | g.640865T>A | CA412231710 | SHOX | c.531T>A (p.Asn177Lys)
| |
| X | g.640865T>C | CA515290753 | SHOX | c.531T>C (p.Asn177=)
| |
| X | g.640865T>G | CA412231711 | SHOX | c.531T>G (p.Asn177Lys)
| |
| X | g.640866C>A | CA412231712 | SHOX | c.532C>A (p.Gln178Lys)
| |
| X | g.640866C>G | CA412231713 | SHOX | c.532C>G (p.Gln178Glu)
| |
| X | g.640866C>T | CA412231714 | SHOX | c.532C>T (p.Gln178Ter)
| |
| X | g.640867A>C | CA412231715 | SHOX | c.533A>C (p.Gln178Pro)
| |
| X | g.640867A>G | CA412231716 | SHOX | c.533A>G (p.Gln178Arg)
| dbSNP |
| X | g.640867A>T | CA412231717 | SHOX | c.533A>T (p.Gln178Leu)
| |
| X | g.640868G>A | CA515290766 | SHOX | c.534G>A (p.Gln178=)
| gnomAD v4 |
| X | g.640868G>C | CA10330025 | SHOX | c.534G>C (p.Gln178His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640868G= | CA2411389756 | SHOX | c.534G= (p.Gln178=)
| |
| X | g.640868G>T | CA412231718 | SHOX | c.534G>T (p.Gln178His)
| gnomAD v4 |
| X | g.640869A= | CA2411389757 | SHOX | c.535A= (p.Met179=)
| |
| X | g.640869A>C | CA412231719 | SHOX | c.535A>C (p.Met179Leu)
| |
| X | g.640869A>G | CA412231720 | SHOX | c.535A>G (p.Met179Val)
| |
| X | g.640869A>T | CA10330026 | SHOX | c.535A>T (p.Met179Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640870T>A | CA412231721 | SHOX | c.536T>A (p.Met179Lys)
| |
| X | g.640870T>C | CA412231722 | SHOX | c.536T>C (p.Met179Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.640870T>G | CA412231723 | SHOX | c.536T>G (p.Met179Arg)
| |
| X | g.640870T= | CA2411389758 | SHOX | c.536T= (p.Met179=)
| |
| X | g.640871G>A | CA412231724 | SHOX | c.537G>A (p.Met179Ile)
| |
| X | g.640871G>C | CA412231725 | SHOX | c.537G>C (p.Met179Ile)
| |
| X | g.640871G>T | CA412231726 | SHOX | c.537G>T (p.Met179Ile)
| |
| X | g.640872C>A | CA412231727 | SHOX | c.538C>A (p.His180Asn)
| |
| X | g.640872C= | CA2411389759 | SHOX | c.538C= (p.His180=)
| |
| X | g.640872C>G | CA412231728 | SHOX | c.538C>G (p.His180Asp)
| |
| X | g.640872C>T | CA10330027 | SHOX | c.538C>T (p.His180Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640873A>C | CA412231731 | SHOX | c.539A>C (p.His180Pro)
| |
| X | g.640873A>G | CA412231730 | SHOX | c.539A>G (p.His180Arg)
| gnomAD v4 |
| X | g.640873A>T | CA412231729 | SHOX | c.539A>T (p.His180Leu)
| |
| X | g.640874T>A | CA412231732 | SHOX | c.540T>A (p.His180Gln)
| |
| X | g.640874T>C | CA10330028 | SHOX | c.540T>C (p.His180=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640874T>G | CA412231733 | SHOX | c.540T>G (p.His180Gln)
| |
| X | g.640874T= | CA2411389760 | SHOX | c.540T= (p.His180=)
| |
| X | g.640875A>C | CA412231734 | SHOX | c.541A>C (p.Lys181Gln)
| |
| X | g.640875A>G | CA412231735 | SHOX | c.541A>G (p.Lys181Glu)
| |
| X | g.640875A>T | CA412231736 | SHOX | c.541A>T (p.Lys181Ter)
| |
| X | g.640876A= | CA2411389761 | SHOX | c.542A= (p.Lys181=)
| |
| X | g.640876A>C | CA10330029 | SHOX | c.542A>C (p.Lys181Thr)
| dbSNP ExAC gnomAD v2 |
| X | g.640876A>G | CA412231737 | SHOX | c.542A>G (p.Lys181Arg)
| |
| X | g.640876A>T | CA412231738 | SHOX | c.542A>T (p.Lys181Ile)
| |
| X | g.640877A= | CA2411389762 | SHOX | c.543A= (p.Lys181=)
| |
| X | g.640877A>C | CA10330030 | SHOX | c.543A>C (p.Lys181Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640877A>G | CA515290809 | SHOX | c.543A>G (p.Lys181=)
| |
| X | g.640877A>T | CA412231739 | SHOX | c.543A>T (p.Lys181Asn)
| |
| X | g.640878G>A | CA412231740 | SHOX | c.544G>A (p.Gly182Ser)
| dbSNP |
| X | g.640878G>C | CA412231741 | SHOX | c.544G>C (p.Gly182Arg)
| |
| X | g.640878G= | CA2411389763 | SHOX | c.544G= (p.Gly182=)
| |
| X | g.640878G>T | CA412231742 | SHOX | c.544G>T (p.Gly182Cys)
| |
| X | g.640879G>A | CA412231745 | SHOX | c.544+1G>A (n.544+1G>A)
| ClinVar dbSNP |
| X | g.640879G>C | CA412231744 | SHOX | c.544+1G>C (n.544+1G>C)
| |
| X | g.640879G= | CA2411389764 | SHOX | c.544+1G= (n.544+1G=)
| |
| X | g.640879G>T | CA412231743 | SHOX | c.544+1G>T (n.544+1G>T)
| |
| X | g.640880T>A | CA412231746 | SHOX | c.544+2T>A (n.544+2T>A)
| |
| X | g.640880T>C | CA412231747 | SHOX | c.544+2T>C (n.544+2T>C)
| |
| X | g.640880T>G | CA412231748 | SHOX | c.544+2T>G (n.544+2T>G)
| |
| X | g.640881G>T | CA2692951754 | SHOX | c.544+3G>T (n.544+3G>T)
| gnomAD v4 |
| X | g.640883G>C | CA2695231053 | SHOX | c.544+5G>C (n.544+5G>C)
| |
| X | g.640885G>A | CA2692951755 | SHOX | c.544+7G>A (n.544+7G>A)
| gnomAD v4 |
| X | g.640886T>C | CA10330031 | SHOX | c.544+8T>C (n.544+8T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640886T= | CA2411389765 | SHOX | c.544+8T= (n.544+8T=)
| |
| X | g.640887C= | CA2411389766 | SHOX | c.544+9C= (n.544+9C=)
| |
| X | g.640887C>G | CA2819363453 | SHOX | c.544+9C>G (n.544+9C>G)
| |
| X | g.640887C>T | CA10330032 | SHOX | c.544+9C>T (n.544+9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640887_640896delinsCGGGACTGGG | CA2411389767 | SHOX | c.544+9_544+18delinsCGGGACTGGG (n.544+9_544+18delinsCGGGACTGGG)
| |
| X | g.640888G>A | CA10330033 | SHOX | c.544+10G>A (n.544+10G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640888G= | CA2411389768 | SHOX | c.544+10G= (n.544+10G=)
| |
| X | g.640888G>T | CA10330034 | SHOX | c.544+10G>T (n.544+10G>T)
| dbSNP ExAC gnomAD v2 |
| X | g.640893_640901del | CA325623432 | SHOX | c.544+15_544+23del (n.544+15_544+23del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640889G>C | CA2411389769 | SHOX | c.544+11G>C (n.544+11G>C)
| dbSNP gnomAD v4 |
| X | g.640889G= | CA2411389770 | SHOX | c.544+11G= (n.544+11G=)
| |
| X | g.640890G>C | CA2411389772 | SHOX | c.544+12G>C (n.544+12G>C)
| dbSNP |
| X | g.640890G= | CA2411389771 | SHOX | c.544+12G= (n.544+12G=)
| |
| X | g.640890G>T | CA2819363454 | SHOX | c.544+12G>T (n.544+12G>T)
| |
| X | g.640891A>G | CA2692951759 | SHOX | c.544+13A>G (n.544+13A>G)
| gnomAD v4 |
| X | g.640893_640895delinsTGG | CA2411389773 | SHOX | c.544+15_544+17delinsTGG (n.544+15_544+17delinsTGG)
| |
| X | g.640894G>A | CA657867851 | SHOX | c.544+16G>A (n.544+16G>A)
| COSMIC |
| X | g.640894G>C | CA640120926 | SHOX | c.544+16G>C (n.544+16G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.640894G= | CA2411389775 | SHOX | c.544+16G= (n.544+16G=)
| |
| X | g.640894G>T | CA2692951763 | SHOX | c.544+16G>T (n.544+16G>T)
| gnomAD v4 |
| X | g.640899dup | CA2819363455 | SHOX | c.544+21dup (n.544+21dup)
| |
| X | g.640899del | CA10330035 | SHOX | c.544+21del (n.544+21del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640898_640899del | CA640120923 | SHOX | c.544+20_544+21del (n.544+20_544+21del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640894_640909delinsGGGGGGACCTGAAGCT | CA2411389774 | SHOX | c.544+16_544+31delinsGGGGGGACCTGAAGCT (n.544+16_544+31delinsGGGGGGACCTGAAGCT)
| |
| X | g.640895G>C | CA2692951766 | SHOX | c.544+17G>C (n.544+17G>C)
| gnomAD v4 |
| X | g.640895G>T | CA2692951767 | SHOX | c.544+17G>T (n.544+17G>T)
| gnomAD v4 |
| X | g.640901_640915del | CA10330036 | SHOX | c.544+23_544+37del (n.544+23_544+37del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640897G>A | CA2692951769 | SHOX | c.544+19G>A (n.544+19G>A)
| gnomAD v4 |
| X | g.640897G>C | CA2411389777 | SHOX | c.544+19G>C (n.544+19G>C)
| dbSNP gnomAD v4 |
| X | g.640897G= | CA2411389776 | SHOX | c.544+19G= (n.544+19G=)
| |
| X | g.640897G>T | CA10330037 | SHOX | c.544+19G>T (n.544+19G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640898G>A | CA10330038 | SHOX | c.544+20G>A (n.544+20G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640898G= | CA2411389778 | SHOX | c.544+20G= (n.544+20G=)
| |
| X | g.640899G>A | CA2692951774 | SHOX | c.544+21G>A (n.544+21G>A)
| gnomAD v4 |
| X | g.640899G>C | CA2411389780 | SHOX | c.544+21G>C (n.544+21G>C)
| dbSNP |
| X | g.640899G= | CA2411389779 | SHOX | c.544+21G= (n.544+21G=)
| |
| X | g.640899G>T | CA10330039 | SHOX | c.544+21G>T (n.544+21G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
