| X | g.640920_640954del | CA2692951783 | SHOX | c.544+42_545-45del (n.544+42_545-45del)
| gnomAD v4 |
| X | g.640920G>C | CA2411389791 | SHOX | c.544+42G>C (n.544+42G>C)
| dbSNP |
| X | g.640920G= | CA2411389792 | SHOX | c.544+42G= (n.544+42G=)
| |
| X | g.640920G>T | CA640120949 | SHOX | c.544+42G>T (n.544+42G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.640921C>G | CA2692951787 | SHOX | c.544+43C>G (n.544+43C>G)
| gnomAD v4 |
| X | g.640921C>T | CA2579539634 | SHOX | c.544+43C>T (n.544+43C>T)
| gnomAD v4 |
| X | g.640922T>A | CA2579539635 | SHOX | c.544+44T>A (n.544+44T>A)
| |
| X | g.640923C>A | CA10330043 | SHOX | c.544+45C>A (n.544+45C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640923C= | CA2411389793 | SHOX | c.544+45C= (n.544+45C=)
| |
| X | g.640923C>G | CA10330044 | SHOX | c.544+45C>G (n.544+45C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640924C>A | CA2579539636 | SHOX | c.544+46C>A (n.544+46C>A)
| |
| X | g.640924C= | CA2411389794 | SHOX | c.544+46C= (n.544+46C=)
| |
| X | g.640924C>T | CA10330045 | SHOX | c.544+46C>T (n.544+46C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640925A= | CA2411389795 | SHOX | c.544+47A= (n.544+47A=)
| |
| X | g.640925A>C | CA1130295066 | SHOX | c.544+47A>C (n.544+47A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.640925A>G | CA2692951788 | SHOX | c.544+47A>G (n.544+47A>G)
| gnomAD v4 |
| X | g.640926G>A | CA2692951789 | SHOX | c.544+48G>A (n.544+48G>A)
| gnomAD v4 |
| X | g.640928A>G | CA2692951790 | SHOX | c.544+50A>G (n.544+50A>G)
| gnomAD v4 |
| X | g.640929G>A | CA2411389797 | SHOX | c.544+51G>A (n.544+51G>A)
| dbSNP gnomAD v4 |
| X | g.640929G>C | CA10330046 | SHOX | c.544+51G>C (n.544+51G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640929G= | CA2411389796 | SHOX | c.544+51G= (n.544+51G=)
| |
| X | g.640929G>T | CA2692951792 | SHOX | c.544+51G>T (n.544+51G>T)
| gnomAD v4 |
| X | g.640930G>A | CA2562591170 | SHOX | c.544+52G>A (n.544+52G>A)
| gnomAD v4 |
| X | g.640930G>C | CA640120963 | SHOX | c.544+52G>C (n.544+52G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.640930G= | CA2411389798 | SHOX | c.544+52G= (n.544+52G=)
| |
| X | g.640930G>T | CA2692951793 | SHOX | c.544+52G>T (n.544+52G>T)
| gnomAD v4 |
| X | g.640931G>A | CA877166414 | SHOX | c.544+53G>A (n.544+53G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.640931G= | CA2411389799 | SHOX | c.544+53G= (n.544+53G=)
| |
| X | g.640931G>T | CA2411389800 | SHOX | c.544+53G>T (n.544+53G>T)
| dbSNP |
| X | g.640933_640934delinsTG | CA2411389801 | SHOX | c.544+55_544+56delinsTG (n.544+55_544+56delinsTG)
| |
| X | g.640934G>C | CA2411389803 | SHOX | c.544+56G>C (n.544+56G>C)
| dbSNP |
| X | g.640934G= | CA2411389802 | SHOX | c.544+56G= (n.544+56G=)
| |
| X | g.640937del | CA877166415 | SHOX | c.544+59del (n.544+59del)
| dbSNP |
| X | g.640936G>A | CA877166418 | SHOX | c.544+58G>A (n.544+58G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.640936G= | CA2411389804 | SHOX | c.544+58G= (n.544+58G=)
| |
| X | g.640937G>A | CA2579539637 | SHOX | c.544+59G>A (n.544+59G>A)
| gnomAD v4 |
| X | g.640937G>T | CA2692951798 | SHOX | c.544+59G>T (n.544+59G>T)
| gnomAD v4 |
| X | g.640938T>G | CA2579539638 | SHOX | c.545-61T>G (n.545-61T>G)
| gnomAD v4 |
| X | g.640939C= | CA2411389805 | SHOX | c.545-60C= (n.545-60C=)
| |
| X | g.640939C>G | CA2692951800 | SHOX | c.545-60C>G (n.545-60C>G)
| gnomAD v4 |
| X | g.640939C>T | CA2411389806 | SHOX | c.545-60C>T (n.545-60C>T)
| dbSNP gnomAD v4 |
| X | g.640940G>A | CA515290850 | SHOX | c.545-59G>A (n.545-59G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640940G= | CA2411389807 | SHOX | c.545-59G= (n.545-59G=)
| |
| X | g.640942C= | CA2411389808 | SHOX | c.545-57C= (n.545-57C=)
| |
| X | g.640942C>G | CA2692951803 | SHOX | c.545-57C>G (n.545-57C>G)
| gnomAD v4 |
| X | g.640942C>T | CA325623464 | SHOX | c.545-57C>T (n.545-57C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640943G>A | CA877166421 | SHOX | c.545-56G>A (n.545-56G>A)
| dbSNP gnomAD v4 |
| X | g.640943G= | CA2411389809 | SHOX | c.545-56G= (n.545-56G=)
| |
| X | g.640944A>T | CA2579539639 | SHOX | c.545-55A>T (n.545-55A>T)
| |
| X | g.640945G>A | CA2579539640 | SHOX | c.545-54G>A (n.545-54G>A)
| gnomAD v4 |
| X | g.640945G>C | CA2562908144 | SHOX | c.545-54G>C (n.545-54G>C)
| |
| X | g.640946del | CA2692951805 | SHOX | c.545-53del (n.545-53del)
| gnomAD v4 |
| X | g.640946G>A | CA2692951806 | SHOX | c.545-53G>A (n.545-53G>A)
| gnomAD v4 |
| X | g.640946G= | CA2411389810 | SHOX | c.545-53G= (n.545-53G=)
| |
| X | g.640946G>T | CA2411389811 | SHOX | c.545-53G>T (n.545-53G>T)
| dbSNP gnomAD v4 |
| X | g.640947T>C | CA2579539641 | SHOX | c.545-52T>C (n.545-52T>C)
| gnomAD v4 |
| X | g.640951G>A | CA640120968 | SHOX | c.545-48G>A (n.545-48G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640951G= | CA2411389812 | SHOX | c.545-48G= (n.545-48G=)
| |
| X | g.640951G>T | CA2579539642 | SHOX | c.545-48G>T (n.545-48G>T)
| |
| X | g.640952G>A | CA10330047 | SHOX | c.545-47G>A (n.545-47G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640952G= | CA2411389813 | SHOX | c.545-47G= (n.545-47G=)
| |
| X | g.640955_640956insTTTT | CA2692951808 | SHOX | c.545-44_545-43insTTTT (n.545-44_545-43insTTTT)
| gnomAD v4 |
| X | g.640956C>T | CA2579539643 | SHOX | c.545-43C>T (n.545-43C>T)
| gnomAD v4 |
| X | g.640956_640957insTTCCTCTG | CA2692951811 | SHOX | c.545-43_545-42insTTCCTCTG (n.545-43_545-42insTTCCTCTG)
| gnomAD v4 |
| X | g.640957A>C | CA2692951810 | SHOX | c.545-42A>C (n.545-42A>C)
| gnomAD v4 |
| X | g.640957_640958insAGAT | CA2692951813 | SHOX | c.545-42_545-41insAGAT (n.545-42_545-41insAGAT)
| gnomAD v4 |
| X | g.640958C>T | CA2692951812 | SHOX | c.545-41C>T (n.545-41C>T)
| gnomAD v4 |
| X | g.640959C= | CA2411389814 | SHOX | c.545-40C= (n.545-40C=)
| |
| X | g.640959C>T | CA10330048 | SHOX | c.545-40C>T (n.545-40C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640961A= | CA2411389815 | SHOX | c.545-38A= (n.545-38A=)
| |
| X | g.640961A>G | CA2411389816 | SHOX | c.545-38A>G (n.545-38A>G)
| dbSNP |
| X | g.640961A>T | CA2692951815 | SHOX | c.545-38A>T (n.545-38A>T)
| gnomAD v4 |
| X | g.640963G>A | CA10330049 | SHOX | c.545-36G>A (n.545-36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640963G= | CA2411389817 | SHOX | c.545-36G= (n.545-36G=)
| |
| X | g.640965C>A | CA2547603368 | SHOX | c.545-34C>A (n.545-34C>A)
| |
| X | g.640966C= | CA2411389818 | SHOX | c.545-33C= (n.545-33C=)
| |
| X | g.640966C>T | CA1130295077 | SHOX | c.545-33C>T (n.545-33C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.640968C>A | CA2692951816 | SHOX | c.545-31C>A (n.545-31C>A)
| gnomAD v4 |
| X | g.640968C>T | CA2579539644 | SHOX | c.545-31C>T (n.545-31C>T)
| |
| X | g.640969C>A | CA2692951817 | SHOX | c.545-30C>A (n.545-30C>A)
| gnomAD v4 |
| X | g.640969C= | CA2411389819 | SHOX | c.545-30C= (n.545-30C=)
| |
| X | g.640969C>G | CA10330050 | SHOX | c.545-30C>G (n.545-30C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640969C>T | CA10330051 | SHOX | c.545-30C>T (n.545-30C>T)
| dbSNP ExAC gnomAD v2 |
| X | g.640970A>C | CA2579539645 | SHOX | c.545-29A>C (n.545-29A>C)
| gnomAD v4 |
| X | g.640971C= | CA2411389820 | SHOX | c.545-28C= (n.545-28C=)
| |
| X | g.640971C>T | CA325623476 | SHOX | c.545-28C>T (n.545-28C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640973C>A | CA10330052 | SHOX | c.545-26C>A (n.545-26C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640973C= | CA2411389821 | SHOX | c.545-26C= (n.545-26C=)
| |
| X | g.640973C>G | CA2692951824 | SHOX | c.545-26C>G (n.545-26C>G)
| gnomAD v4 |
| X | g.640973_640974del | CA2692951821 | SHOX | c.545-26_545-25del (n.545-26_545-25del)
| gnomAD v4 |
| X | g.640977C>T | CA2692951826 | SHOX | c.545-22C>T (n.545-22C>T)
| gnomAD v4 |
| X | g.640982G= | CA2411389822 | SHOX | c.545-17G= (n.545-17G=)
| |
| X | g.640982G>T | CA2411389823 | SHOX | c.545-17G>T (n.545-17G>T)
| dbSNP |
| X | g.640983C= | CA2411389824 | SHOX | c.545-16C= (n.545-16C=)
| |
| X | g.640983C>T | CA2411389825 | SHOX | c.545-16C>T (n.545-16C>T)
| dbSNP gnomAD v4 |
| X | g.640985C>A | CA10330053 | SHOX | c.545-14C>A (n.545-14C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640985C= | CA2411389826 | SHOX | c.545-14C= (n.545-14C=)
| |
| X | g.640985C>T | CA10330054 | SHOX | c.545-14C>T (n.545-14C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.640986C= | CA2411389827 | SHOX | c.545-13C= (n.545-13C=)
| |
| X | g.640986C>T | CA640121369 | SHOX | c.545-13C>T (n.545-13C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.640987C= | CA2411389828 | SHOX | c.545-12C= (n.545-12C=)
| |
| X | g.640987C>G | CA2692951829 | SHOX | c.545-12C>G (n.545-12C>G)
| gnomAD v4 |
| X | g.640987C>T | CA2411389829 | SHOX | c.545-12C>T (n.545-12C>T)
| dbSNP gnomAD v4 |
| X | g.640989T>C | CA10330055 | SHOX | c.545-10T>C (n.545-10T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.640989T>G | CA2692951830 | SHOX | c.545-10T>G (n.545-10T>G)
| gnomAD v4 |
| X | g.640989T= | CA2411389830 | SHOX | c.545-10T= (n.545-10T=)
| |
| X | g.640991G>A | CA2579539646 | SHOX | c.545-8G>A (n.545-8G>A)
| |
| X | g.640992G>A | CA2579539647 | SHOX | c.545-7G>A (n.545-7G>A)
| |
| X | g.640994C>A | CA2692951831 | SHOX | c.545-5C>A (n.545-5C>A)
| gnomAD v4 |
| X | g.640995A= | CA2411389831 | SHOX | c.545-4A= (n.545-4A=)
| |
| X | g.640995A>G | CA2692951832 | SHOX | c.545-4A>G (n.545-4A>G)
| gnomAD v4 |
| X | g.640995A>T | CA1130295079 | SHOX | c.545-4A>T (n.545-4A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.640996C= | CA2411389832 | SHOX | c.545-3C= (n.545-3C=)
| |
| X | g.640996C>T | CA325623499 | SHOX | c.545-3C>T (n.545-3C>T)
| dbSNP |
| X | g.640997A>C | CA412231749 | SHOX | c.545-2A>C (n.545-2A>C)
| |
| X | g.640997A>G | CA412231750 | SHOX | c.545-2A>G (n.545-2A>G)
| |
| X | g.640997A>T | CA412231751 | SHOX | c.545-2A>T (n.545-2A>T)
| |
| X | g.640998G>A | CA412231752 | SHOX | c.545-1G>A (n.545-1G>A)
| gnomAD v4 |
| X | g.640998G>C | CA412231753 | SHOX | c.545-1G>C (n.545-1G>C)
| |
| X | g.640998G>T | CA412231754 | SHOX | c.545-1G>T (n.545-1G>T)
| gnomAD v4 |
| X | g.640999G>A | CA412231755 | SHOX | c.545G>A (p.Gly182Asp)
| gnomAD v4 |
| X | g.640999G>C | CA412231756 | SHOX | c.545G>C (p.Gly182Ala)
| |
| X | g.640999G>T | CA412231757 | SHOX | c.545G>T (p.Gly182Val)
| gnomAD v4 |
| X | g.641000C>A | CA515290886 | SHOX | c.546C>A (p.Gly182=)
| |
| X | g.641000C= | CA2411389833 | SHOX | c.546C= (p.Gly182=)
| |
| X | g.641000C>G | CA10330057 | SHOX | c.546C>G (p.Gly182=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641000C>T | CA10330056 | SHOX | c.546C>T (p.Gly182=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.641001G>A | CA10330058 | SHOX | c.547G>A (p.Val183Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641001G>C | CA412231758 | SHOX | c.547G>C (p.Val183Leu)
| ClinVar gnomAD v4 |
| X | g.641001G= | CA2411389834 | SHOX | c.547G= (p.Val183=)
| |
| X | g.641001G>T | CA10330059 | SHOX | c.547G>T (p.Val183Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641002T>A | CA412231759 | SHOX | c.548T>A (p.Val183Asp)
| gnomAD v4 |
| X | g.641002T>C | CA412231760 | SHOX | c.548T>C (p.Val183Ala)
| |
| X | g.641002T>G | CA412231761 | SHOX | c.548T>G (p.Val183Gly)
| |
| X | g.641003C>A | CA515290901 | SHOX | c.549C>A (p.Val183=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641003C= | CA2411389835 | SHOX | c.549C= (p.Val183=)
| |
| X | g.641003C>G | CA515290903 | SHOX | c.549C>G (p.Val183=)
| |
| X | g.641003C>T | CA515290905 | SHOX | c.549C>T (p.Val183=)
| gnomAD v4 |
| X | g.641004A= | CA2411389836 | SHOX | c.550A= (p.Ile184=)
| |
| X | g.641004A>C | CA412231762 | SHOX | c.550A>C (p.Ile184Leu)
| |
| X | g.641004A>G | CA10330060 | SHOX | c.550A>G (p.Ile184Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641004A>T | CA412231763 | SHOX | c.550A>T (p.Ile184Phe)
| |
| X | g.641005T>A | CA412231764 | SHOX | c.551T>A (p.Ile184Asn)
| |
| X | g.641005T>C | CA412231765 | SHOX | c.551T>C (p.Ile184Thr)
| |
| X | g.641005T>G | CA412231766 | SHOX | c.551T>G (p.Ile184Ser)
| |
| X | g.641006C>A | CA515290916 | SHOX | c.552C>A (p.Ile184=)
| |
| X | g.641006C>G | CA412231767 | SHOX | c.552C>G (p.Ile184Met)
| |
| X | g.641006C>T | CA515290919 | SHOX | c.552C>T (p.Ile184=)
| |
| X | g.641007T>A | CA412231768 | SHOX | c.553T>A (p.Leu185Met)
| |
| X | g.641007T>C | CA10330061 | SHOX | c.553T>C (p.Leu185=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.641007T>G | CA412231769 | SHOX | c.553T>G (p.Leu185Val)
| |
| X | g.641007T= | CA2411389837 | SHOX | c.553T= (p.Leu185=)
| |
| X | g.641008T>A | CA412231772 | SHOX | c.554T>A (p.Leu185Ter)
| |
| X | g.641008T>C | CA412231771 | SHOX | c.554T>C (p.Leu185Ser)
| gnomAD v4 |
| X | g.641008T>G | CA412231770 | SHOX | c.554T>G (p.Leu185Trp)
| gnomAD v4 |
| X | g.641009G>A | CA515290934 | SHOX | c.555G>A (p.Leu185=)
| |
| X | g.641009G>C | CA412231773 | SHOX | c.555G>C (p.Leu185Phe)
| |
| X | g.641009G>T | CA412231774 | SHOX | c.555G>T (p.Leu185Phe)
| |
| X | g.641010G>A | CA412231775 | SHOX | c.556G>A (p.Gly186Ser)
| |
| X | g.641010G>C | CA412231776 | SHOX | c.556G>C (p.Gly186Arg)
| |
| X | g.641010G>T | CA412231777 | SHOX | c.556G>T (p.Gly186Cys)
| |
| X | g.641011G>A | CA412231778 | SHOX | c.557G>A (p.Gly186Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.641011G>C | CA412231779 | SHOX | c.557G>C (p.Gly186Ala)
| |
| X | g.641011G= | CA2411389838 | SHOX | c.557G= (p.Gly186=)
| |
| X | g.641011G>T | CA412231780 | SHOX | c.557G>T (p.Gly186Val)
| |
| X | g.641012C>A | CA515290949 | SHOX | c.558C>A (p.Gly186=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.641012C= | CA2411389839 | SHOX | c.558C= (p.Gly186=)
| |
| X | g.641012C>G | CA515290951 | SHOX | c.558C>G (p.Gly186=)
| |
| X | g.641012C>T | CA515290953 | SHOX | c.558C>T (p.Gly186=)
| |
| X | g.641013A= | CA2411389840 | SHOX | c.559A= (p.Thr187=)
| |
| X | g.641013A>C | CA412231781 | SHOX | c.559A>C (p.Thr187Pro)
| |
| X | g.641013A>G | CA10330062 | SHOX | c.559A>G (p.Thr187Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641013A>T | CA412231782 | SHOX | c.559A>T (p.Thr187Ser)
| |
| X | g.641014C>A | CA412231783 | SHOX | c.560C>A (p.Thr187Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.641014C= | CA2411389841 | SHOX | c.560C= (p.Thr187=)
| |
| X | g.641014C>G | CA412231784 | SHOX | c.560C>G (p.Thr187Arg)
| |
| X | g.641014C>T | CA412231785 | SHOX | c.560C>T (p.Thr187Ile)
| gnomAD v4 |
| X | g.641015A>C | CA515290969 | SHOX | c.561A>C (p.Thr187=)
| |
| X | g.641015A>G | CA515290968 | SHOX | c.561A>G (p.Thr187=)
| |
| X | g.641015A>T | CA515290971 | SHOX | c.561A>T (p.Thr187=)
| |
| X | g.641016G>A | CA412231788 | SHOX | c.562G>A (p.Ala188Thr)
| |
| X | g.641016G>C | CA412231787 | SHOX | c.562G>C (p.Ala188Pro)
| |
| X | g.641016G>T | CA412231786 | SHOX | c.562G>T (p.Ala188Ser)
| |
| X | g.641017C>A | CA412231789 | SHOX | c.563C>A (p.Ala188Asp)
| |
| X | g.641017C= | CA2411389842 | SHOX | c.563C= (p.Ala188=)
| |
| X | g.641017C>G | CA412231790 | SHOX | c.563C>G (p.Ala188Gly)
| |
| X | g.641017C>T | CA412231791 | SHOX | c.563C>T (p.Ala188Val)
| dbSNP gnomAD v4 |
| X | g.641018C>A | CA515290985 | SHOX | c.564C>A (p.Ala188=)
| |
| X | g.641018C>G | CA515290987 | SHOX | c.564C>G (p.Ala188=)
| |
| X | g.641018C>T | CA515290990 | SHOX | c.564C>T (p.Ala188=)
| |
| X | g.641019A= | CA2411389843 | SHOX | c.565A= (p.Asn189=)
| |
| X | g.641019A>C | CA412231792 | SHOX | c.565A>C (p.Asn189His)
| |
| X | g.641019A>G | CA412231793 | SHOX | c.565A>G (p.Asn189Asp)
| |
| X | g.641019A>T | CA412231794 | SHOX | c.565A>T (p.Asn189Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641020A= | CA2411389844 | SHOX | c.566A= (p.Asn189=)
| |
| X | g.641020A>C | CA412231797 | SHOX | c.566A>C (p.Asn189Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641020A>G | CA412231795 | SHOX | c.566A>G (p.Asn189Ser)
| gnomAD v4 |
| X | g.641020A>T | CA412231796 | SHOX | c.566A>T (p.Asn189Ile)
| |
