| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114354231G>T | CA2621123910 | TBX5 | c.*1301C>A (n.*1301C>A) | gnomAD v4 |
| 12 | g.114354232G= | CA2064632840 | TBX5 | c.*1300C= (n.*1300C=) | |
| 12 | g.114354232G>T | CA952036721 | TBX5 | c.*1300C>A (n.*1300C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354233T>C | CA2064632842 | TBX5 | c.*1299A>G (n.*1299A>G) | dbSNP gnomAD v4 |
| 12 | g.114354233T= | CA2064632841 | TBX5 | c.*1299A= (n.*1299A=) | |
| 12 | g.114354241A= | CA2064632843 | TBX5 | c.*1291T= (n.*1291T=) | |
| 12 | g.114354241A>G | CA2064632844 | TBX5 | c.*1291T>C (n.*1291T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354242T>A | CA244261937 | TBX5 | c.*1290A>T (n.*1290A>T) | dbSNP |
| 12 | g.114354242T= | CA2064632845 | TBX5 | c.*1290A= (n.*1290A=) | |
| 12 | g.114354243_114354246delinsCAAT | CA2064632846 | TBX5 | c.*1286_*1289delinsATTG (n.*1286_*1289delinsATTG) | |
| 12 | g.114354246_114354248del | CA683909137 | TBX5 | c.*1286_*1288del (n.*1286_*1288del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354245A= | CA2064632847 | TBX5 | c.*1287T= (n.*1287T=) | |
| 12 | g.114354245A>G | CA2064632848 | TBX5 | c.*1287T>C (n.*1287T>C) | dbSNP |
| 12 | g.114354246T>A | CA244261939 | TBX5 | c.*1286A>T (n.*1286A>T) | dbSNP |
| 12 | g.114354246T= | CA2064632849 | TBX5 | c.*1286A= (n.*1286A=) | |
| 12 | g.114354248A= | CA2064632850 | TBX5 | c.*1284T= (n.*1284T=) | |
| 12 | g.114354248A>C | CA683909144 | TBX5 | c.*1284T>G (n.*1284T>G) | dbSNP |
| 12 | g.114354253A>G | CA655274078 | TBX5 | c.*1279T>C (n.*1279T>C) | COSMIC |
| 12 | g.114354256A>T | CA2621123911 | TBX5 | c.*1276T>A (n.*1276T>A) | gnomAD v4 |
| 12 | g.114354257G>C | CA607711351 | TBX5 | c.*1275C>G (n.*1275C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114354257G= | CA2064632851 | TBX5 | c.*1275C= (n.*1275C=) | |
| 12 | g.114354258C>A | CA2505124736 | TBX5 | c.*1274G>T (n.*1274G>T) | gnomAD v4 |
| 12 | g.114354258C= | CA2064632852 | TBX5 | c.*1274G= (n.*1274G=) | |
| 12 | g.114354258C>T | CA607711353 | TBX5 | c.*1274G>A (n.*1274G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114354260C>A | CA2529943782 | TBX5 | c.*1272G>T (n.*1272G>T) | |
| 12 | g.114354260C= | CA2064632853 | TBX5 | c.*1272G= (n.*1272G=) | |
| 12 | g.114354260C>G | CA683909154 | TBX5 | c.*1272G>C (n.*1272G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354260C>T | CA2797548205 | TBX5 | c.*1272G>A (n.*1272G>A) | |
| 12 | g.114354264G= | CA2064632854 | TBX5 | c.*1268C= (n.*1268C=) | |
| 12 | g.114354264G>T | CA2064632855 | TBX5 | c.*1268C>A (n.*1268C>A) | dbSNP |
| 12 | g.114354265C>A | CA2621123912 | TBX5 | c.*1267G>T (n.*1267G>T) | gnomAD v4 |
| 12 | g.114354265C>T | CA2621123913 | TBX5 | c.*1267G>A (n.*1267G>A) | gnomAD v4 |
| 12 | g.114354269C= | CA2064632856 | TBX5 | c.*1263G= (n.*1263G=) | |
| 12 | g.114354269C>T | CA244261940 | TBX5 | c.*1263G>A (n.*1263G>A) | dbSNP |
| 12 | g.114354272C= | CA2064632858 | TBX5 | c.*1260G= (n.*1260G=) | |
| 12 | g.114354272C>G | CA2064632857 | TBX5 | c.*1260G>C (n.*1260G>C) | dbSNP |
| 12 | g.114354272C>T | CA244261943 | TBX5 | c.*1260G>A (n.*1260G>A) | dbSNP |
| 12 | g.114354273T>C | CA2541800341 | TBX5 | c.*1259A>G (n.*1259A>G) | |
| 12 | g.114354279G>A | CA244261947 | TBX5 | c.*1253C>T (n.*1253C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354279G= | CA2064632859 | TBX5 | c.*1253C= (n.*1253C=) | |
| 12 | g.114354280G>C | CA683909159 | TBX5 | c.*1252C>G (n.*1252C>G) | dbSNP |
| 12 | g.114354280G= | CA2064632860 | TBX5 | c.*1252C= (n.*1252C=) | |
| 12 | g.114354280G>T | CA2621123914 | TBX5 | c.*1252C>A (n.*1252C>A) | gnomAD v4 |
| 12 | g.114354281G>A | CA2516278216 | TBX5 | c.*1251C>T (n.*1251C>T) | |
| 12 | g.114354281_114354286delinsGTTTCA | CA2064632861 | TBX5 | c.*1246_*1251delinsTGAAAC (n.*1246_*1251delinsTGAAAC) | |
| 12 | g.114354288_114354292del | CA952036724 | TBX5 | c.*1246_*1250del (n.*1246_*1250del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354283T>G | CA952036725 | TBX5 | c.*1249A>C (n.*1249A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354283T= | CA2064632862 | TBX5 | c.*1249A= (n.*1249A=) | |
| 12 | g.114354291A>T | CA2797548207 | TBX5 | c.*1241T>A (n.*1241T>A) | |
| 12 | g.114354291_114354297delinsATGTTAT | CA2064632863 | TBX5 | c.*1235_*1241delinsATAACAT (n.*1235_*1241delinsATAACAT) | |
| 12 | g.114354292T>C | CA2514207255 | TBX5 | c.*1240A>G (n.*1240A>G) | |
| 12 | g.114354293_114354298del | CA683909164 | TBX5 | c.*1235_*1240del (n.*1235_*1240del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354293G>T | CA2621123915 | TBX5 | c.*1239C>A (n.*1239C>A) | gnomAD v4 |
| 12 | g.114354300C= | CA2064632864 | TBX5 | c.*1232G= (n.*1232G=) | |
| 12 | g.114354300C>G | CA683909166 | TBX5 | c.*1232G>C (n.*1232G>C) | dbSNP |
| 12 | g.114354304A= | CA2064632865 | TBX5 | c.*1228T= (n.*1228T=) | |
| 12 | g.114354304A>G | CA952036727 | TBX5 | c.*1228T>C (n.*1228T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354307A= | CA2064632866 | TBX5 | c.*1225T= (n.*1225T=) | |
| 12 | g.114354307A>G | CA683909176 | TBX5 | c.*1225T>C (n.*1225T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354311T>C | CA2566763763 | TBX5 | c.*1221A>G (n.*1221A>G) | |
| 12 | g.114354313C>A | CA2621123916 | TBX5 | c.*1219G>T (n.*1219G>T) | gnomAD v4 |
| 12 | g.114354313C>T | CA2621123917 | TBX5 | c.*1219G>A (n.*1219G>A) | gnomAD v4 |
| 12 | g.114354314C= | CA2064632867 | TBX5 | c.*1218G= (n.*1218G=) | |
| 12 | g.114354314C>T | CA683909180 | TBX5 | c.*1218G>A (n.*1218G>A) | dbSNP |
| 12 | g.114354315del | CA2621123918 | TBX5 | c.*1217del (n.*1217del) | gnomAD v4 |
| 12 | g.114354316A= | CA2064632868 | TBX5 | c.*1216T= (n.*1216T=) | |
| 12 | g.114354316A>C | CA607711354 | TBX5 | c.*1216T>G (n.*1216T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114354319_114354323delinsTATAA | CA2064632869 | TBX5 | c.*1209_*1213delinsTTATA (n.*1209_*1213delinsTTATA) | |
| 12 | g.114354327_114354330del | CA683909182 | TBX5 | c.*1209_*1212del (n.*1209_*1212del) | dbSNP |
| 12 | g.114354321T>C | CA244261948 | TBX5 | c.*1211A>G (n.*1211A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354321T= | CA2064632870 | TBX5 | c.*1211A= (n.*1211A=) | |
| 12 | g.114354322A>T | CA2621123919 | TBX5 | c.*1210T>A (n.*1210T>A) | gnomAD v4 |
| 12 | g.114354323A>T | CA2621123920 | TBX5 | c.*1209T>A (n.*1209T>A) | gnomAD v4 |
| 12 | g.114354331G>A | CA2621123921 | TBX5 | c.*1201C>T (n.*1201C>T) | gnomAD v4 |