| X | g.641200T>G | CA877166637 | SHOX | c.633+113T>G (n.633+113T>G)
| dbSNP gnomAD v4 |
| X | g.641200T= | CA2411389925 | SHOX | c.633+113T= (n.633+113T=)
| |
| X | g.641203_641204del | CA2692951916 | SHOX | c.633+116_633+117del (n.633+116_633+117del)
| gnomAD v4 |
| X | g.641202C>A | CA2692951917 | SHOX | c.633+115C>A (n.633+115C>A)
| gnomAD v4 |
| X | g.641204C>A | CA2692951918 | SHOX | c.633+117C>A (n.633+117C>A)
| gnomAD v4 |
| X | g.641204C= | CA2411389926 | SHOX | c.633+117C= (n.633+117C=)
| |
| X | g.641204C>G | CA325623576 | SHOX | c.633+117C>G (n.633+117C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641205A>C | CA2692951919 | SHOX | c.633+118A>C (n.633+118A>C)
| gnomAD v4 |
| X | g.641206G>A | CA2692951920 | SHOX | c.633+119G>A (n.633+119G>A)
| gnomAD v4 |
| X | g.641207C>A | CA2692951921 | SHOX | c.633+120C>A (n.633+120C>A)
| gnomAD v4 |
| X | g.641207C= | CA2411389927 | SHOX | c.633+120C= (n.633+120C=)
| |
| X | g.641207C>T | CA1130295175 | SHOX | c.633+120C>T (n.633+120C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641208T>C | CA2692951923 | SHOX | c.633+121T>C (n.633+121T>C)
| gnomAD v4 |
| X | g.641208_641215del | CA2692951922 | SHOX | c.633+121_633+128del (n.633+121_633+128del)
| gnomAD v4 |
| X | g.641209G>A | CA1130295177 | SHOX | c.633+122G>A (n.633+122G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641209G= | CA2411389928 | SHOX | c.633+122G= (n.633+122G=)
| |
| X | g.641209G>T | CA2692951924 | SHOX | c.633+122G>T (n.633+122G>T)
| gnomAD v4 |
| X | g.641210G>A | CA325623577 | SHOX | c.633+123G>A (n.633+123G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641210G= | CA2411389929 | SHOX | c.633+123G= (n.633+123G=)
| |
| X | g.641210G>T | CA2692951925 | SHOX | c.633+123G>T (n.633+123G>T)
| gnomAD v4 |
| X | g.641211C>A | CA2692951926 | SHOX | c.633+124C>A (n.633+124C>A)
| gnomAD v4 |
| X | g.641211C= | CA2411389930 | SHOX | c.633+124C= (n.633+124C=)
| |
| X | g.641211C>T | CA877166644 | SHOX | c.633+124C>T (n.633+124C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641212C>T | CA2692951927 | SHOX | c.633+125C>T (n.633+125C>T)
| gnomAD v4 |
| X | g.641213C>A | CA2692951928 | SHOX | c.633+126C>A (n.633+126C>A)
| gnomAD v4 |
| X | g.641214T>C | CA2692951930 | SHOX | c.633+127T>C (n.633+127T>C)
| gnomAD v4 |
| X | g.641215del | CA2692951929 | SHOX | c.633+128del (n.633+128del)
| gnomAD v4 |
| X | g.641215T>C | CA2692951931 | SHOX | c.633+128T>C (n.633+128T>C)
| gnomAD v4 |
| X | g.641217G>A | CA2692951932 | SHOX | c.633+130G>A (n.633+130G>A)
| gnomAD v4 |
| X | g.641217G>C | CA877166647 | SHOX | c.633+130G>C (n.633+130G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641217G= | CA2411389931 | SHOX | c.633+130G= (n.633+130G=)
| |
| X | g.641217G>T | CA2692951933 | SHOX | c.633+130G>T (n.633+130G>T)
| gnomAD v4 |
| X | g.641218A= | CA2411389932 | SHOX | c.633+131A= (n.633+131A=)
| |
| X | g.641218A>G | CA2411389933 | SHOX | c.633+131A>G (n.633+131A>G)
| dbSNP gnomAD v4 |
| X | g.641218A>T | CA877166652 | SHOX | c.633+131A>T (n.633+131A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641224dup | CA640121519 | SHOX | c.633+137dup (n.633+137dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641224del | CA2692951934 | SHOX | c.633+137del (n.633+137del)
| gnomAD v4 |
| X | g.641221A= | CA2411389934 | SHOX | c.633+134A= (n.633+134A=)
| |
| X | g.641221A>G | CA325623580 | SHOX | c.633+134A>G (n.633+134A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641224A= | CA2411389935 | SHOX | c.633+137A= (n.633+137A=)
| |
| X | g.641224A>C | CA2692951935 | SHOX | c.633+137A>C (n.633+137A>C)
| gnomAD v4 |
| X | g.641224A>G | CA1130295186 | SHOX | c.633+137A>G (n.633+137A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641225G>A | CA2692951936 | SHOX | c.633+138G>A (n.633+138G>A)
| gnomAD v4 |
| X | g.641225G>C | CA877166654 | SHOX | c.633+138G>C (n.633+138G>C)
| dbSNP |
| X | g.641225G= | CA2411389936 | SHOX | c.633+138G= (n.633+138G=)
| |
| X | g.641226C>A | CA2692951937 | SHOX | c.633+139C>A (n.633+139C>A)
| gnomAD v4 |
| X | g.641226C>T | CA2692951938 | SHOX | c.633+139C>T (n.633+139C>T)
| gnomAD v4 |
| X | g.641227C>A | CA2692951939 | SHOX | c.633+140C>A (n.633+140C>A)
| gnomAD v4 |
| X | g.641227C>G | CA2692951940 | SHOX | c.633+140C>G (n.633+140C>G)
| gnomAD v4 |
| X | g.641227C>T | CA2692951941 | SHOX | c.633+140C>T (n.633+140C>T)
| gnomAD v4 |
| X | g.641229C>A | CA2411389937 | SHOX | c.633+142C>A (n.633+142C>A)
| dbSNP gnomAD v4 |
| X | g.641229C= | CA2411389938 | SHOX | c.633+142C= (n.633+142C=)
| |
| X | g.641229C>G | CA640121523 | SHOX | c.633+142C>G (n.633+142C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.641232T>C | CA2692951942 | SHOX | c.633+145T>C (n.633+145T>C)
| gnomAD v4 |
| X | g.641233T>C | CA2692951943 | SHOX | c.633+146T>C (n.633+146T>C)
| gnomAD v4 |
| X | g.641235C= | CA2411389939 | SHOX | c.633+148C= (n.633+148C=)
| |
| X | g.641235C>G | CA2411389940 | SHOX | c.633+148C>G (n.633+148C>G)
| dbSNP gnomAD v4 |
| X | g.641235C>T | CA325623582 | SHOX | c.633+148C>T (n.633+148C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641236G>A | CA325623592 | SHOX | c.633+149G>A (n.633+149G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641236G>C | CA2819363460 | SHOX | c.633+149G>C (n.633+149G>C)
| |
| X | g.641236G= | CA2411389941 | SHOX | c.633+149G= (n.633+149G=)
| |
| X | g.641236G>T | CA2692951944 | SHOX | c.633+149G>T (n.633+149G>T)
| gnomAD v4 |
| X | g.641237A>C | CA2692951945 | SHOX | c.633+150A>C (n.633+150A>C)
| gnomAD v4 |
| X | g.641238G>T | CA2692951946 | SHOX | c.633+151G>T (n.633+151G>T)
| gnomAD v4 |
| X | g.641239G>T | CA2692951947 | SHOX | c.633+152G>T (n.633+152G>T)
| gnomAD v4 |
| X | g.641240A= | CA2411389942 | SHOX | c.633+153A= (n.633+153A=)
| |
| X | g.641240A>C | CA877166658 | SHOX | c.633+153A>C (n.633+153A>C)
| dbSNP |
| X | g.641241G>A | CA2411389944 | SHOX | c.633+154G>A (n.633+154G>A)
| dbSNP gnomAD v4 |
| X | g.641241G= | CA2411389943 | SHOX | c.633+154G= (n.633+154G=)
| |
| X | g.641242G>A | CA2411389946 | SHOX | c.633+155G>A (n.633+155G>A)
| dbSNP |
| X | g.641242G= | CA2411389945 | SHOX | c.633+155G= (n.633+155G=)
| |
| X | g.641242G>T | CA2692951948 | SHOX | c.633+155G>T (n.633+155G>T)
| gnomAD v4 |
| X | g.641243C>A | CA2692951949 | SHOX | c.633+156C>A (n.633+156C>A)
| gnomAD v4 |
| X | g.641245T>C | CA1130295188 | SHOX | c.633+158T>C (n.633+158T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641245T= | CA2411389947 | SHOX | c.633+158T= (n.633+158T=)
| |
| X | g.641247T>A | CA2692951950 | SHOX | c.633+160T>A (n.633+160T>A)
| gnomAD v4 |
| X | g.641248A>G | CA2692951951 | SHOX | c.633+161A>G (n.633+161A>G)
| gnomAD v4 |
| X | g.641249C= | CA2411389948 | SHOX | c.633+162C= (n.633+162C=)
| |
| X | g.641249C>T | CA2411389949 | SHOX | c.633+162C>T (n.633+162C>T)
| dbSNP gnomAD v4 |
| X | g.641250A= | CA2411389950 | SHOX | c.633+163A= (n.633+163A=)
| |
| X | g.641250A>T | CA2411389951 | SHOX | c.633+163A>T (n.633+163A>T)
| dbSNP gnomAD v4 |
| X | g.641252G>C | CA2692951952 | SHOX | c.633+165G>C (n.633+165G>C)
| gnomAD v4 |
| X | g.641252G>T | CA2692951953 | SHOX | c.633+165G>T (n.633+165G>T)
| gnomAD v4 |
| X | g.641254A>T | CA2738198655 | SHOX | c.633+167A>T (n.633+167A>T)
| dbSNP |
| X | g.641255C>A | CA640121527 | SHOX | c.633+168C>A (n.633+168C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641255C= | CA2411389952 | SHOX | c.633+168C= (n.633+168C=)
| |
| X | g.641256C= | CA2411389953 | SHOX | c.633+169C= (n.633+169C=)
| |
| X | g.641256C>G | CA1130295200 | SHOX | c.633+169C>G (n.633+169C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641259G= | CA2411389954 | SHOX | c.633+172G= (n.633+172G=)
| |
| X | g.641259G>T | CA877166663 | SHOX | c.633+172G>T (n.633+172G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641262A= | CA2411389955 | SHOX | c.633+175A= (n.633+175A=)
| |
| X | g.641262A>C | CA2411389956 | SHOX | c.633+175A>C (n.633+175A>C)
| dbSNP |
| X | g.641264C>A | CA657867853 | SHOX | c.633+177C>A (n.633+177C>A)
| COSMIC |
| X | g.641265T>A | CA877166664 | SHOX | c.633+178T>A (n.633+178T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641265T>C | CA2741725384 | SHOX | c.633+178T>C (n.633+178T>C)
| |
| X | g.641265T= | CA2411389957 | SHOX | c.633+178T= (n.633+178T=)
| |
| X | g.641266A= | CA2411389959 | SHOX | c.633+179A= (n.633+179A=)
| |
| X | g.641266A>G | CA2411389958 | SHOX | c.633+179A>G (n.633+179A>G)
| dbSNP |
| X | g.641267T>C | CA877166669 | SHOX | c.633+180T>C (n.633+180T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641267T= | CA2411389960 | SHOX | c.633+180T= (n.633+180T=)
| |
| X | g.641270A= | CA2411389961 | SHOX | c.633+183A= (n.633+183A=)
| |
| X | g.641270A>C | CA877166671 | SHOX | c.633+183A>C (n.633+183A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641273C>A | CA2559487636 | SHOX | c.633+186C>A (n.633+186C>A)
| |
| X | g.641273C= | CA2411389962 | SHOX | c.633+186C= (n.633+186C=)
| |
| X | g.641273C>T | CA2411389963 | SHOX | c.633+186C>T (n.633+186C>T)
| dbSNP |
| X | g.641276G= | CA2411389964 | SHOX | c.633+189G= (n.633+189G=)
| |
| X | g.641276G>T | CA2411389965 | SHOX | c.633+189G>T (n.633+189G>T)
| dbSNP |
| X | g.641277C= | CA2411389966 | SHOX | c.633+190C= (n.633+190C=)
| |
| X | g.641277C>T | CA2411389967 | SHOX | c.633+190C>T (n.633+190C>T)
| dbSNP |
| X | g.641279G>C | CA1130295204 | SHOX | c.633+192G>C (n.633+192G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641279G= | CA2411389968 | SHOX | c.633+192G= (n.633+192G=)
| |
| X | g.641281G= | CA2411389969 | SHOX | c.633+194G= (n.633+194G=)
| |
| X | g.641281G>T | CA2411389970 | SHOX | c.633+194G>T (n.633+194G>T)
| dbSNP |
| X | g.641287C= | CA2411389971 | SHOX | c.633+200C= (n.633+200C=)
| |
| X | g.641287C>T | CA640121528 | SHOX | c.633+200C>T (n.633+200C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641288G>A | CA325623595 | SHOX | c.633+201G>A (n.633+201G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641288G>C | CA1130295210 | SHOX | c.633+201G>C (n.633+201G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641288G= | CA2411389972 | SHOX | c.633+201G= (n.633+201G=)
| |
| X | g.641289G>A | CA1130295213 | SHOX | c.633+202G>A (n.633+202G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641289G= | CA2411389973 | SHOX | c.633+202G= (n.633+202G=)
| |
| X | g.641290G>A | CA877166678 | SHOX | c.633+203G>A (n.633+203G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641290G= | CA2411389974 | SHOX | c.633+203G= (n.633+203G=)
| |
| X | g.641291G>A | CA877166681 | SHOX | c.633+204G>A (n.633+204G>A)
| dbSNP |
| X | g.641291G>C | CA877166683 | SHOX | c.633+204G>C (n.633+204G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641291G= | CA2411389975 | SHOX | c.633+204G= (n.633+204G=)
| |
| X | g.641291G>T | CA877166698 | SHOX | c.633+204G>T (n.633+204G>T)
| dbSNP |
| X | g.641292T>G | CA2411389977 | SHOX | c.633+205T>G (n.633+205T>G)
| dbSNP |
| X | g.641292T= | CA2411389976 | SHOX | c.633+205T= (n.633+205T=)
| |
| X | g.641292_641293delinsTG | CA2411389978 | SHOX | c.633+205_633+206delinsTG (n.633+205_633+206delinsTG)
| |
| X | g.641294del | CA1130295222 | SHOX | c.633+207del (n.633+207del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641295C= | CA2411389979 | SHOX | c.633+208C= (n.633+208C=)
| |
| X | g.641295C>T | CA1130295227 | SHOX | c.633+208C>T (n.633+208C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.641297C= | CA2411389980 | SHOX | c.633+210C= (n.633+210C=)
| |
| X | g.641297C>G | CA877166701 | SHOX | c.633+210C>G (n.633+210C>G)
| dbSNP |
| X | g.641299C= | CA2411389981 | SHOX | c.633+212C= (n.633+212C=)
| |
| X | g.641299C>T | CA640121533 | SHOX | c.633+212C>T (n.633+212C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641300A>G | CA2529002109 | SHOX | c.633+213A>G (n.633+213A>G)
| |
| X | g.641300_641427delinsACCTGTCATCCCAGCACTTTGGGAGGCTGAGGAGGGTGCATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACTTAACGAAACCCTGTCTATTAAAAATACAAAATGGGTGTGGTGGCTCACG | CA2411389982 | SHOX | c.633+213_633+340delinsACCTGTCATCCCAGCACTTTGGGAGGCTGAGGAGGGTGCATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACTTAACGAAACCCTGTCTATTAAAAATACAAAATGGGTGTGGTGGCTCACG (n.633+213_633+340delinsACCTGTCATCCCAGCACTTTGGGAGGCTGAGGAGGGTGCATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACTTAACGAAACCCTGTCTATTAAAAATACAAAATGGGTGTGGTGGCTCACG)
| |
