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 |
X | g.640902C>A | CA2692951776 | SHOX | c.544+24C>A (n.544+24C>A)
| gnomAD v4 |
X | g.640902C= | CA2411389781 | SHOX | c.544+24C= (n.544+24C=)
| |
X | g.640902C>T | CA877166392 | SHOX | c.544+24C>T (n.544+24C>T)
| dbSNP gnomAD v4 |
X | g.640903T>G | CA2692951777 | SHOX | c.544+25T>G (n.544+25T>G)
| gnomAD v4 |
X | g.640905A= | CA2411389782 | SHOX | c.544+27A= (n.544+27A=)
| |
X | g.640905A>G | CA2411389783 | SHOX | c.544+27A>G (n.544+27A>G)
| dbSNP |
X | g.640907G>A | CA2579539633 | SHOX | c.544+29G>A (n.544+29G>A)
| |
X | g.640908C= | CA2411389784 | SHOX | c.544+30C= (n.544+30C=)
| |
X | g.640908C>G | CA877166395 | SHOX | c.544+30C>G (n.544+30C>G)
| dbSNP gnomAD v4 |
X | g.640908C>T | CA10330040 | SHOX | c.544+30C>T (n.544+30C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.640910G>A | CA2692951778 | SHOX | c.544+32G>A (n.544+32G>A)
| gnomAD v4 |
X | g.640910G>C | CA10330041 | SHOX | c.544+32G>C (n.544+32G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640910G= | CA2411389785 | SHOX | c.544+32G= (n.544+32G=)
| |
X | g.640914del | CA2692951780 | SHOX | c.544+36del (n.544+36del)
| gnomAD v4 |
X | g.640911G>A | CA2819363456 | SHOX | c.544+33G>A (n.544+33G>A)
| |
X | g.640912G>A | CA2411389787 | SHOX | c.544+34G>A (n.544+34G>A)
| dbSNP |
X | g.640912G= | CA2411389786 | SHOX | c.544+34G= (n.544+34G=)
| |
X | g.640912G>T | CA640120940 | SHOX | c.544+34G>T (n.544+34G>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.640914G>A | CA2411389789 | SHOX | c.544+36G>A (n.544+36G>A)
| dbSNP gnomAD v4 |
X | g.640914G>C | CA10330042 | SHOX | c.544+36G>C (n.544+36G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640914G= | CA2411389788 | SHOX | c.544+36G= (n.544+36G=)
| |
X | g.640917C>A | CA640120946 | SHOX | c.544+39C>A (n.544+39C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.640917C= | CA2411389790 | SHOX | c.544+39C= (n.544+39C=)
| |
X | g.640920_640954del | CA2692951783 | SHOX | c.544+42_545-45del (n.544+42_545-45del)
| gnomAD v4 |
X | g.640919T>C | CA2692951784 | SHOX | c.544+41T>C (n.544+41T>C)
| 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=)
| |