| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 12 | g.114354334C= | CA2064632871 | TBX5 | c.*1198G= (n.*1198G=) | |
| 12 | g.114354334C>T | CA244261949 | TBX5 | c.*1198G>A (n.*1198G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114354335C= | CA2064632872 | TBX5 | c.*1197G= (n.*1197G=) | |
| 12 | g.114354335C>T | CA683909183 | TBX5 | c.*1197G>A (n.*1197G>A) | dbSNP |
| 12 | g.114354336A= | CA2064632873 | TBX5 | c.*1196T= (n.*1196T=) | |
| 12 | g.114354336A>G | CA10640994 | TBX5 | c.*1196T>C (n.*1196T>C) | ClinVar dbSNP |
| 12 | g.114354338T>C | CA244261950 | TBX5 | c.*1194A>G (n.*1194A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354338T= | CA2064632874 | TBX5 | c.*1194A= (n.*1194A=) | |
| 12 | g.114354344A= | CA2064632875 | TBX5 | c.*1188T= (n.*1188T=) | |
| 12 | g.114354344A>C | CA244261956 | TBX5 | c.*1188T>G (n.*1188T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354344A>G | CA10640995 | TBX5 | c.*1188T>C (n.*1188T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114354345T>C | CA607711355 | TBX5 | c.*1187A>G (n.*1187A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114354345T= | CA2064632876 | TBX5 | c.*1187A= (n.*1187A=) | |
| 12 | g.114354351C>A | CA2621123922 | TBX5 | c.*1181G>T (n.*1181G>T) | gnomAD v4 |
| 12 | g.114354352T>C | CA244261957 | TBX5 | c.*1180A>G (n.*1180A>G) | dbSNP |
| 12 | g.114354352T= | CA2064632877 | TBX5 | c.*1180A= (n.*1180A=) | |
| 12 | g.114354353G>A | CA2621123923 | TBX5 | c.*1179C>T (n.*1179C>T) | gnomAD v4 |
| 12 | g.114354353G>T | CA2621123924 | TBX5 | c.*1179C>A (n.*1179C>A) | gnomAD v4 |
| 12 | g.114354359C>A | CA244261958 | TBX5 | c.*1173G>T (n.*1173G>T) | dbSNP |
| 12 | g.114354359C= | CA2064632878 | TBX5 | c.*1173G= (n.*1173G=) | |
| 12 | g.114354359C>G | CA683909209 | TBX5 | c.*1173G>C (n.*1173G>C) | dbSNP |
| 12 | g.114354362T>A | CA2797548209 | TBX5 | c.*1170A>T (n.*1170A>T) | |
| 12 | g.114354362T>C | CA683909220 | TBX5 | c.*1170A>G (n.*1170A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114354362T= | CA2064632879 | TBX5 | c.*1170A= (n.*1170A=) |