| X | g.634531_634558delinsCTTTCCACCGCGGGATGCACGAAGGGGT | CA2411385598 | SHOX | c.278-87_278-60delinsCTTTCCACCGCGGGATGCACGAAGGGGT (n.278-87_278-60delinsCTTTCCACCGCGGGATGCACGAAGGGGT)
| |
| X | g.634533_634559del | CA640359932 | SHOX | c.278-85_278-59del (n.278-85_278-59del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634541C>A | CA2579539572 | SHOX | c.278-77C>A (n.278-77C>A)
| |
| X | g.634541C= | CA2411385605 | SHOX | c.278-77C= (n.278-77C=)
| |
| X | g.634541C>G | CA2411385606 | SHOX | c.278-77C>G (n.278-77C>G)
| dbSNP gnomAD v4 |
| X | g.634542G>A | CA2579539573 | SHOX | c.278-76G>A (n.278-76G>A)
| gnomAD v4 |
| X | g.634543G>A | CA2692951847 | SHOX | c.278-75G>A (n.278-75G>A)
| gnomAD v4 |
| X | g.634543G>T | CA2692951848 | SHOX | c.278-75G>T (n.278-75G>T)
| gnomAD v4 |
| X | g.634544G>A | CA2411385608 | SHOX | c.278-74G>A (n.278-74G>A)
| dbSNP |
| X | g.634544G>C | CA1130292450 | SHOX | c.278-74G>C (n.278-74G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634544G= | CA2411385607 | SHOX | c.278-74G= (n.278-74G=)
| |
| X | g.634545A= | CA2411385609 | SHOX | c.278-73A= (n.278-73A=)
| |
| X | g.634545A>G | CA2692951849 | SHOX | c.278-73A>G (n.278-73A>G)
| gnomAD v4 |
| X | g.634545A>T | CA877047182 | SHOX | c.278-73A>T (n.278-73A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634547G>A | CA2411385611 | SHOX | c.278-71G>A (n.278-71G>A)
| dbSNP gnomAD v4 |
| X | g.634547G= | CA2411385610 | SHOX | c.278-71G= (n.278-71G=)
| |
| X | g.634548C>A | CA2692951850 | SHOX | c.278-70C>A (n.278-70C>A)
| gnomAD v4 |
| X | g.634548C>T | CA2692951851 | SHOX | c.278-70C>T (n.278-70C>T)
| gnomAD v4 |
| X | g.634549_634550dup | CA1130292454 | SHOX | c.278-69_278-68dup (n.278-69_278-68dup)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634549A= | CA2411385612 | SHOX | c.278-69A= (n.278-69A=)
| |
| X | g.634549A>G | CA877047183 | SHOX | c.278-69A>G (n.278-69A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634550C= | CA2411385613 | SHOX | c.278-68C= (n.278-68C=)
| |
| X | g.634550C>G | CA325621034 | SHOX | c.278-68C>G (n.278-68C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634550C>T | CA2411385614 | SHOX | c.278-68C>T (n.278-68C>T)
| dbSNP |
| X | g.634551G>A | CA2692951852 | SHOX | c.278-67G>A (n.278-67G>A)
| gnomAD v4 |
| X | g.634551G>C | CA2692951853 | SHOX | c.278-67G>C (n.278-67G>C)
| gnomAD v4 |
| X | g.634551G>T | CA2692951854 | SHOX | c.278-67G>T (n.278-67G>T)
| gnomAD v4 |
| X | g.634552A>G | CA2692951855 | SHOX | c.278-66A>G (n.278-66A>G)
| gnomAD v4 |
| X | g.634554G>C | CA877047184 | SHOX | c.278-64G>C (n.278-64G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634554G= | CA2411385615 | SHOX | c.278-64G= (n.278-64G=)
| |
| X | g.634554G>T | CA2411385616 | SHOX | c.278-64G>T (n.278-64G>T)
| dbSNP |
| X | g.634557dup | CA2692951856 | SHOX | c.278-61dup (n.278-61dup)
| gnomAD v4 |
| X | g.634555G>A | CA640359934 | SHOX | c.278-63G>A (n.278-63G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634555G>C | CA2579539574 | SHOX | c.278-63G>C (n.278-63G>C)
| |
| X | g.634555G= | CA2411385617 | SHOX | c.278-63G= (n.278-63G=)
| |
| X | g.634555G>T | CA2692951857 | SHOX | c.278-63G>T (n.278-63G>T)
| gnomAD v4 |
| X | g.634556G>A | CA1130292458 | SHOX | c.278-62G>A (n.278-62G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634556G>C | CA2692951858 | SHOX | c.278-62G>C (n.278-62G>C)
| gnomAD v4 |
| X | g.634556G= | CA2411385618 | SHOX | c.278-62G= (n.278-62G=)
| |
| X | g.634556G>T | CA2819363270 | SHOX | c.278-62G>T (n.278-62G>T)
| |
| X | g.634557G>A | CA2579539575 | SHOX | c.278-61G>A (n.278-61G>A)
| gnomAD v4 |
| X | g.634557G= | CA2411385619 | SHOX | c.278-61G= (n.278-61G=)
| |
| X | g.634557G>T | CA325621035 | SHOX | c.278-61G>T (n.278-61G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634558T= | CA2411385620 | SHOX | c.278-60T= (n.278-60T=)
| |
| X | g.634559T>C | CA2692951859 | SHOX | c.278-59T>C (n.278-59T>C)
| gnomAD v4 |
| X | g.634559_634560dup | CA2411385621 | SHOX | c.278-59_278-58dup (n.278-59_278-58dup)
| dbSNP gnomAD v4 |
| X | g.634560C>A | CA325621037 | SHOX | c.278-58C>A (n.278-58C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634560C= | CA2411385622 | SHOX | c.278-58C= (n.278-58C=)
| |
| X | g.634560C>G | CA325621038 | SHOX | c.278-58C>G (n.278-58C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634560C>T | CA657867811 | SHOX | c.278-58C>T (n.278-58C>T)
| gnomAD v4 COSMIC |
| X | g.634561G>A | CA640359935 | SHOX | c.278-57G>A (n.278-57G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634561G= | CA2411385623 | SHOX | c.278-57G= (n.278-57G=)
| |
| X | g.634561G>T | CA2692951860 | SHOX | c.278-57G>T (n.278-57G>T)
| gnomAD v4 |
| X | g.634562C= | CA2411385624 | SHOX | c.278-56C= (n.278-56C=)
| |
| X | g.634562C>T | CA2411385625 | SHOX | c.278-56C>T (n.278-56C>T)
| dbSNP gnomAD v4 |
| X | g.634563C>A | CA877047191 | SHOX | c.278-55C>A (n.278-55C>A)
| dbSNP gnomAD v4 |
| X | g.634563C= | CA2411385626 | SHOX | c.278-55C= (n.278-55C=)
| |
| X | g.634563C>G | CA2692951862 | SHOX | c.278-55C>G (n.278-55C>G)
| gnomAD v4 |
| X | g.634563C>T | CA2579539576 | SHOX | c.278-55C>T (n.278-55C>T)
| gnomAD v4 |
| X | g.634564A= | CA2411385627 | SHOX | c.278-54A= (n.278-54A=)
| |
| X | g.634564A>G | CA877047193 | SHOX | c.278-54A>G (n.278-54A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634565del | CA2579539577 | SHOX | c.278-53del (n.278-53del)
| gnomAD v4 |
| X | g.634565C>A | CA2692951193 | SHOX | c.278-53C>A (n.278-53C>A)
| gnomAD v4 |
| X | g.634565C= | CA2411385628 | SHOX | c.278-53C= (n.278-53C=)
| |
| X | g.634565C>G | CA1130292462 | SHOX | c.278-53C>G (n.278-53C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634565C>T | CA2692951194 | SHOX | c.278-53C>T (n.278-53C>T)
| gnomAD v4 |
| X | g.634566G>A | CA2692951198 | SHOX | c.278-52G>A (n.278-52G>A)
| gnomAD v4 |
| X | g.634566G>C | CA2692951199 | SHOX | c.278-52G>C (n.278-52G>C)
| gnomAD v4 |
| X | g.634566G>T | CA2692951200 | SHOX | c.278-52G>T (n.278-52G>T)
| gnomAD v4 |
| X | g.634568T>C | CA2692951201 | SHOX | c.278-50T>C (n.278-50T>C)
| gnomAD v4 |
| X | g.634569G>A | CA640359936 | SHOX | c.278-49G>A (n.278-49G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634569G>C | CA2692951203 | SHOX | c.278-49G>C (n.278-49G>C)
| gnomAD v4 |
| X | g.634569G= | CA2411385629 | SHOX | c.278-49G= (n.278-49G=)
| |
| X | g.634569G>T | CA2692951204 | SHOX | c.278-49G>T (n.278-49G>T)
| gnomAD v4 |
| X | g.634570C>A | CA10329917 | SHOX | c.278-48C>A (n.278-48C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634570C= | CA2411385630 | SHOX | c.278-48C= (n.278-48C=)
| |
| X | g.634570C>T | CA640359937 | SHOX | c.278-48C>T (n.278-48C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634571G>A | CA325621042 | SHOX | c.278-47G>A (n.278-47G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634571G= | CA2411385631 | SHOX | c.278-47G= (n.278-47G=)
| |
| X | g.634571dup | CA2692951206 | SHOX | c.278-47dup (n.278-47dup)
| gnomAD v4 |
| X | g.634572C>A | CA2579539578 | SHOX | c.278-46C>A (n.278-46C>A)
| gnomAD v4 |
| X | g.634572C= | CA2411385632 | SHOX | c.278-46C= (n.278-46C=)
| |
| X | g.634572C>G | CA10329919 | SHOX | c.278-46C>G (n.278-46C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634572C>T | CA10329918 | SHOX | c.278-46C>T (n.278-46C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634572_634573delinsCA | CA2411385633 | SHOX | c.278-46_278-45delinsCA (n.278-46_278-45delinsCA)
| |
| X | g.634576del | CA877047203 | SHOX | c.278-42del (n.278-42del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634575A= | CA2411385634 | SHOX | c.278-43A= (n.278-43A=)
| |
| X | g.634575A>C | CA2692951210 | SHOX | c.278-43A>C (n.278-43A>C)
| gnomAD v4 |
| X | g.634575A>G | CA2411385635 | SHOX | c.278-43A>G (n.278-43A>G)
| dbSNP |
| X | g.634576A>G | CA2692951212 | SHOX | c.278-42A>G (n.278-42A>G)
| gnomAD v4 |
| X | g.634577C>G | CA2692951214 | SHOX | c.278-41C>G (n.278-41C>G)
| gnomAD v4 |
| X | g.634577C>T | CA2692951215 | SHOX | c.278-41C>T (n.278-41C>T)
| gnomAD v4 |
| X | g.634578C= | CA2411385636 | SHOX | c.278-40C= (n.278-40C=)
| |
| X | g.634578C>G | CA10329920 | SHOX | c.278-40C>G (n.278-40C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634578C>T | CA10329921 | SHOX | c.278-40C>T (n.278-40C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634579T>C | CA640360070 | SHOX | c.278-39T>C (n.278-39T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634579T= | CA2411385637 | SHOX | c.278-39T= (n.278-39T=)
| |
| X | g.634580C>A | CA10329922 | SHOX | c.278-38C>A (n.278-38C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634580C= | CA2411385638 | SHOX | c.278-38C= (n.278-38C=)
| |
| X | g.634580C>G | CA2692951217 | SHOX | c.278-38C>G (n.278-38C>G)
| gnomAD v4 |
| X | g.634580C>T | CA877047211 | SHOX | c.278-38C>T (n.278-38C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634581C>G | CA2692951219 | SHOX | c.278-37C>G (n.278-37C>G)
| dbSNP gnomAD v4 |
| X | g.634581C>T | CA2692951220 | SHOX | c.278-37C>T (n.278-37C>T)
| gnomAD v4 |
| X | g.634584_634594del | CA2579539579 | SHOX | c.278-34_278-24del (n.278-34_278-24del)
| gnomAD v4 |
| X | g.634582C= | CA2411385639 | SHOX | c.278-36C= (n.278-36C=)
| |
| X | g.634582C>G | CA2411385640 | SHOX | c.278-36C>G (n.278-36C>G)
| dbSNP gnomAD v4 |
| X | g.634583C>A | CA2692951222 | SHOX | c.278-35C>A (n.278-35C>A)
| gnomAD v4 |
| X | g.634583C= | CA2411385641 | SHOX | c.278-35C= (n.278-35C=)
| |
| X | g.634583C>G | CA2692951223 | SHOX | c.278-35C>G (n.278-35C>G)
| gnomAD v4 |
| X | g.634583C>T | CA640360071 | SHOX | c.278-35C>T (n.278-35C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634584G>A | CA10329923 | SHOX | c.278-34G>A (n.278-34G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634584G= | CA2411385642 | SHOX | c.278-34G= (n.278-34G=)
| |
| X | g.634584G>T | CA640360072 | SHOX | c.278-34G>T (n.278-34G>T)
| dbSNP gnomAD v2 |
| X | g.634585G>A | CA640360073 | SHOX | c.278-33G>A (n.278-33G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634585G>C | CA10329924 | SHOX | c.278-33G>C (n.278-33G>C)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.634585G= | CA2411385643 | SHOX | c.278-33G= (n.278-33G=)
| |
| X | g.634586C= | CA2411385644 | SHOX | c.278-32C= (n.278-32C=)
| |
| X | g.634586C>T | CA10329925 | SHOX | c.278-32C>T (n.278-32C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634587C= | CA2411385645 | SHOX | c.278-31C= (n.278-31C=)
| |
| X | g.634587C>T | CA325621062 | SHOX | c.278-31C>T (n.278-31C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634589C= | CA2411385646 | SHOX | c.278-29C= (n.278-29C=)
| |
| X | g.634589C>G | CA2411385647 | SHOX | c.278-29C>G (n.278-29C>G)
| dbSNP |
| X | g.634591G>A | CA10329926 | SHOX | c.278-27G>A (n.278-27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634591G>C | CA640360074 | SHOX | c.278-27G>C (n.278-27G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634591G= | CA2411385648 | SHOX | c.278-27G= (n.278-27G=)
| |
| X | g.634591G>T | CA2695231040 | SHOX | c.278-27G>T (n.278-27G>T)
| |
| X | g.634592C= | CA2411385649 | SHOX | c.278-26C= (n.278-26C=)
| |
| X | g.634592C>G | CA2692951226 | SHOX | c.278-26C>G (n.278-26C>G)
| gnomAD v4 |
| X | g.634592C>T | CA640360075 | SHOX | c.278-26C>T (n.278-26C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634593C>A | CA325621065 | SHOX | c.278-25C>A (n.278-25C>A)
| dbSNP |
| X | g.634593C= | CA2411385650 | SHOX | c.278-25C= (n.278-25C=)
| |
| X | g.634593C>T | CA10329927 | SHOX | c.278-25C>T (n.278-25C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634594C= | CA2411385651 | SHOX | c.278-24C= (n.278-24C=)
| |
| X | g.634594C>G | CA1130292477 | SHOX | c.278-24C>G (n.278-24C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634594C>T | CA10329928 | SHOX | c.278-24C>T (n.278-24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634595T>A | CA640360076 | SHOX | c.278-23T>A (n.278-23T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634595T>G | CA877047235 | SHOX | c.278-23T>G (n.278-23T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634595T= | CA2411385652 | SHOX | c.278-23T= (n.278-23T=)
| |
| X | g.634596G>A | CA10329929 | SHOX | c.278-22G>A (n.278-22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634596G>C | CA640360077 | SHOX | c.278-22G>C (n.278-22G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634596G= | CA2411385653 | SHOX | c.278-22G= (n.278-22G=)
| |
| X | g.634597T>C | CA2819363271 | SHOX | c.278-21T>C (n.278-21T>C)
| |
| X | g.634598G>A | CA877047244 | SHOX | c.278-20G>A (n.278-20G>A)
| dbSNP gnomAD v4 |
| X | g.634598G= | CA2411385654 | SHOX | c.278-20G= (n.278-20G=)
| |
| X | g.634598G>T | CA640360078 | SHOX | c.278-20G>T (n.278-20G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634599C= | CA2411385655 | SHOX | c.278-19C= (n.278-19C=)
| |
| X | g.634599C>T | CA640360079 | SHOX | c.278-19C>T (n.278-19C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634600C>A | CA2692951230 | SHOX | c.278-18C>A (n.278-18C>A)
| gnomAD v4 |
| X | g.634600C= | CA2411385656 | SHOX | c.278-18C= (n.278-18C=)
| |
| X | g.634600C>T | CA10329930 | SHOX | c.278-18C>T (n.278-18C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634601C= | CA2411385657 | SHOX | c.278-17C= (n.278-17C=)
| |
| X | g.634601C>G | CA2579539580 | SHOX | c.278-17C>G (n.278-17C>G)
| |
| X | g.634601C>T | CA640360080 | SHOX | c.278-17C>T (n.278-17C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634602T>C | CA10329931 | SHOX | c.278-16T>C (n.278-16T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634602T= | CA2411385658 | SHOX | c.278-16T= (n.278-16T=)
| |
| X | g.634603C>A | CA10329932 | SHOX | c.278-15C>A (n.278-15C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634603C= | CA2411385659 | SHOX | c.278-15C= (n.278-15C=)
| |
| X | g.634603C>G | CA2692951235 | SHOX | c.278-15C>G (n.278-15C>G)
| gnomAD v4 |
| X | g.634603C>T | CA10329933 | SHOX | c.278-15C>T (n.278-15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634604C= | CA2411385660 | SHOX | c.278-14C= (n.278-14C=)
| |
| X | g.634604C>T | CA640360081 | SHOX | c.278-14C>T (n.278-14C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634605G>A | CA640360083 | SHOX | c.278-13G>A (n.278-13G>A)
| dbSNP gnomAD v2 |
| X | g.634605G>C | CA640360082 | SHOX | c.278-13G>C (n.278-13G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634605G= | CA2411385661 | SHOX | c.278-13G= (n.278-13G=)
| |
| X | g.634605G>T | CA2579539581 | SHOX | c.278-13G>T (n.278-13G>T)
| gnomAD v4 |
| X | g.634606C= | CA2411385662 | SHOX | c.278-12C= (n.278-12C=)
| |
| X | g.634606C>T | CA325621080 | SHOX | c.278-12C>T (n.278-12C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634607T>C | CA640360084 | SHOX | c.278-11T>C (n.278-11T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634607T= | CA2411385663 | SHOX | c.278-11T= (n.278-11T=)
| |
| X | g.634608C= | CA2411385664 | SHOX | c.278-10C= (n.278-10C=)
| |
| X | g.634608C>G | CA2819363272 | SHOX | c.278-10C>G (n.278-10C>G)
| |
| X | g.634608C>T | CA10329934 | SHOX | c.278-10C>T (n.278-10C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634609C= | CA2411385665 | SHOX | c.278-9C= (n.278-9C=)
| |
| X | g.634609C>G | CA640360085 | SHOX | c.278-9C>G (n.278-9C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634610C= | CA2411385666 | SHOX | c.278-8C= (n.278-8C=)
| |
| X | g.634610C>G | CA10329936 | SHOX | c.278-8C>G (n.278-8C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634610C>T | CA10329935 | SHOX | c.278-8C>T (n.278-8C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634612A>G | CA2692951239 | SHOX | c.278-6A>G (n.278-6A>G)
| gnomAD v4 |
| X | g.634613C>A | CA10329938 | SHOX | c.278-5C>A (n.278-5C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634613C= | CA2411385667 | SHOX | c.278-5C= (n.278-5C=)
| |
| X | g.634613C>T | CA10329937 | SHOX | c.278-5C>T (n.278-5C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634614G>C | CA2692951241 | SHOX | c.278-4G>C (n.278-4G>C)
| gnomAD v4 |
| X | g.634614G= | CA2411385668 | SHOX | c.278-4G= (n.278-4G=)
| |
| X | g.634614G>T | CA640360086 | SHOX | c.278-4G>T (n.278-4G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634615C>T | CA2692951242 | SHOX | c.278-3C>T (n.278-3C>T)
| gnomAD v4 |
| X | g.634616A>C | CA412231139 | SHOX | c.278-2A>C (n.278-2A>C)
| |
| X | g.634616A>G | CA412231140 | SHOX | c.278-2A>G (n.278-2A>G)
| ClinVar dbSNP |
| X | g.634616A>T | CA412231141 | SHOX | c.278-2A>T (n.278-2A>T)
| |
| X | g.634617G>A | CA412231142 | SHOX | c.278-1G>A (n.278-1G>A)
| |
| X | g.634617G>C | CA412231143 | SHOX | c.278-1G>C (n.278-1G>C)
| |
| X | g.634617G>T | CA412231144 | SHOX | c.278-1G>T (n.278-1G>T)
| |
| X | g.634618G>A | CA412231146 | SHOX | c.278G>A (p.Gly93Glu)
| |
| X | g.634618G>C | CA10329939 | SHOX | c.278G>C (p.Gly93Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634618G= | CA2411385669 | SHOX | c.278G= (p.Gly93=)
| |
| X | g.634618G>T | CA412231145 | SHOX | c.278G>T (p.Gly93Val)
| |
| X | g.634619G>A | CA515393010 | SHOX | c.279G>A (p.Gly93=)
| gnomAD v4 |
| X | g.634619G>C | CA515393009 | SHOX | c.279G>C (p.Gly93=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634619G= | CA2411385670 | SHOX | c.279G= (p.Gly93=)
| |
| X | g.634619G>T | CA214242 | SHOX | c.279G>T (p.Gly93=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634620A= | CA2411385671 | SHOX | c.280A= (p.Ile94=)
| |
| X | g.634620A>C | CA412231147 | SHOX | c.280A>C (p.Ile94Leu)
| |
| X | g.634620A>G | CA412231148 | SHOX | c.280A>G (p.Ile94Val)
| |
| X | g.634620A>T | CA10329940 | SHOX | c.280A>T (p.Ile94Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634621T>A | CA412231149 | SHOX | c.281T>A (p.Ile94Asn)
| |
| X | g.634621T>C | CA412231150 | SHOX | c.281T>C (p.Ile94Thr)
| |
| X | g.634621T>G | CA412231151 | SHOX | c.281T>G (p.Ile94Ser)
| |
| X | g.634622T>A | CA515393020 | SHOX | c.282T>A (p.Ile94=)
| |
| X | g.634622T>C | CA515393021 | SHOX | c.282T>C (p.Ile94=)
| |
| X | g.634622T>G | CA412231152 | SHOX | c.282T>G (p.Ile94Met)
| |
| X | g.634623T>A | CA412231153 | SHOX | c.283T>A (p.Tyr95Asn)
| |
| X | g.634623T>C | CA412231154 | SHOX | c.283T>C (p.Tyr95His)
| gnomAD v4 |
| X | g.634623T>G | CA412231155 | SHOX | c.283T>G (p.Tyr95Asp)
| |
| X | g.634624A= | CA2411385672 | SHOX | c.284A= (p.Tyr95=)
| |
| X | g.634624A>C | CA412231157 | SHOX | c.284A>C (p.Tyr95Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634624A>G | CA412231158 | SHOX | c.284A>G (p.Tyr95Cys)
| |
| X | g.634624A>T | CA412231156 | SHOX | c.284A>T (p.Tyr95Phe)
| |
| X | g.634625T>A | CA412231160 | SHOX | c.285T>A (p.Tyr95Ter)
| |
| X | g.634625T>C | CA515393026 | SHOX | c.285T>C (p.Tyr95=)
| |
| X | g.634625T>G | CA412231159 | SHOX | c.285T>G (p.Tyr95Ter)
| |
| X | g.634626G>A | CA412231161 | SHOX | c.286G>A (p.Glu96Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634626G>C | CA412231162 | SHOX | c.286G>C (p.Glu96Gln)
| |
| X | g.634626G= | CA2411385673 | SHOX | c.286G= (p.Glu96=)
| |
| X | g.634626G>T | CA412231163 | SHOX | c.286G>T (p.Glu96Ter)
| |
| X | g.634627A>C | CA412231164 | SHOX | c.287A>C (p.Glu96Ala)
| |
| X | g.634627A>G | CA412231165 | SHOX | c.287A>G (p.Glu96Gly)
| gnomAD v4 |
| X | g.634627A>T | CA412231166 | SHOX | c.287A>T (p.Glu96Val)
| |
| X | g.634628A>C | CA412231167 | SHOX | c.288A>C (p.Glu96Asp)
| |
| X | g.634628A>G | CA515393032 | SHOX | c.288A>G (p.Glu96=)
| |
| X | g.634628A>T | CA412231168 | SHOX | c.288A>T (p.Glu96Asp)
| COSMIC COSMIC |
| X | g.634629T>A | CA412231169 | SHOX | c.289T>A (p.Cys97Ser)
| |
| X | g.634629T>C | CA412231170 | SHOX | c.289T>C (p.Cys97Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.634629T>G | CA412231171 | SHOX | c.289T>G (p.Cys97Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634629T= | CA2411385674 | SHOX | c.289T= (p.Cys97=)
| |
| X | g.634630G>A | CA412231174 | SHOX | c.290G>A (p.Cys97Tyr)
| |
| X | g.634630G>C | CA412231172 | SHOX | c.290G>C (p.Cys97Ser)
| |
| X | g.634630G>T | CA412231173 | SHOX | c.290G>T (p.Cys97Phe)
| gnomAD v4 |
| X | g.634631C>A | CA412231175 | SHOX | c.291C>A (p.Cys97Ter)
| dbSNP |
| X | g.634631C= | CA2411385675 | SHOX | c.291C= (p.Cys97=)
| |
| X | g.634631C>G | CA412231176 | SHOX | c.291C>G (p.Cys97Trp)
| gnomAD v4 |
| X | g.634631C>T | CA515393040 | SHOX | c.291C>T (p.Cys97=)
| |
| X | g.634632A>C | CA412231177 | SHOX | c.292A>C (p.Lys98Gln)
| |
| X | g.634632A>G | CA412231178 | SHOX | c.292A>G (p.Lys98Glu)
| |
| X | g.634632A>T | CA412231179 | SHOX | c.292A>T (p.Lys98Ter)
| |
| X | g.634633A>C | CA412231180 | SHOX | c.293A>C (p.Lys98Thr)
| |
| X | g.634633A>G | CA412231181 | SHOX | c.293A>G (p.Lys98Arg)
| |
| X | g.634633A>T | CA412231182 | SHOX | c.293A>T (p.Lys98Ile)
| |
| X | g.634634A= | CA2411385676 | SHOX | c.294A= (p.Lys98=)
| |
| X | g.634634A>C | CA412231183 | SHOX | c.294A>C (p.Lys98Asn)
| |
| X | g.634634A>G | CA10329941 | SHOX | c.294A>G (p.Lys98=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.634634A>T | CA412231184 | SHOX | c.294A>T (p.Lys98Asn)
| |
| X | g.634635G>A | CA412231186 | SHOX | c.295G>A (p.Glu99Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.634635G>C | CA10329942 | SHOX | c.295G>C (p.Glu99Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634635G= | CA2411385677 | SHOX | c.295G= (p.Glu99=)
| |
| X | g.634635G>T | CA412231185 | SHOX | c.295G>T (p.Glu99Ter)
| |
| X | g.634636A>C | CA412231187 | SHOX | c.296A>C (p.Glu99Ala)
| |
| X | g.634636A>G | CA412231188 | SHOX | c.296A>G (p.Glu99Gly)
| |
| X | g.634636A>T | CA412231189 | SHOX | c.296A>T (p.Glu99Val)
| |
| X | g.634637G>A | CA515393048 | SHOX | c.297G>A (p.Glu99=)
| |
| X | g.634637G>C | CA10329943 | SHOX | c.297G>C (p.Glu99Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634637G= | CA2411385678 | SHOX | c.297G= (p.Glu99=)
| |
| X | g.634637G>T | CA412231190 | SHOX | c.297G>T (p.Glu99Asp)
| COSMIC |
| X | g.634638A>C | CA412231191 | SHOX | c.298A>C (p.Lys100Gln)
| gnomAD v4 |
| X | g.634638A>G | CA412231192 | SHOX | c.298A>G (p.Lys100Glu)
| |
| X | g.634638A>T | CA412231193 | SHOX | c.298A>T (p.Lys100Ter)
| |
| X | g.634639A= | CA2411385679 | SHOX | c.299A= (p.Lys100=)
| |
| X | g.634639A>C | CA412231194 | SHOX | c.299A>C (p.Lys100Thr)
| |
| X | g.634639A>G | CA412231195 | SHOX | c.299A>G (p.Lys100Arg)
| dbSNP |
| X | g.634639A>T | CA412231196 | SHOX | c.299A>T (p.Lys100Met)
| |
| X | g.634640G>A | CA515393053 | SHOX | c.300G>A (p.Lys100=)
| |
| X | g.634640G>C | CA412231197 | SHOX | c.300G>C (p.Lys100Asn)
| dbSNP gnomAD v4 |
| X | g.634640G= | CA2411385680 | SHOX | c.300G= (p.Lys100=)
| |
| X | g.634640G>T | CA412231198 | SHOX | c.300G>T (p.Lys100Asn)
| |
| X | g.634641C>A | CA325621117 | SHOX | c.301C>A (p.Arg101Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634641C= | CA2411385681 | SHOX | c.301C= (p.Arg101=)
| |
| X | g.634641C>G | CA412231199 | SHOX | c.301C>G (p.Arg101Gly)
| gnomAD v4 |
| X | g.634641C>T | CA10329944 | SHOX | c.301C>T (p.Arg101Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
