12 | g.114354054_114354057del | CA10640990 | TBX5 | c.*1477_*1480del (n.*1477_*1480del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354057C>A | CA2621123871 | TBX5 | c.*1475G>T (n.*1475G>T)
| gnomAD v4 |
12 | g.114354059A>C | CA2621123872 | TBX5 | c.*1473T>G (n.*1473T>G)
| gnomAD v4 |
12 | g.114354063C>A | CA2621123873 | TBX5 | c.*1469G>T (n.*1469G>T)
| gnomAD v4 |
12 | g.114354063C= | CA2064632756 | TBX5 | c.*1469G= (n.*1469G=)
| |
12 | g.114354063C>G | CA2064632757 | TBX5 | c.*1469G>C (n.*1469G>C)
| dbSNP |
12 | g.114354064A>T | CA2621123874 | TBX5 | c.*1468T>A (n.*1468T>A)
| gnomAD v4 |
12 | g.114354065C>A | CA2621123875 | TBX5 | c.*1467G>T (n.*1467G>T)
| gnomAD v4 |
12 | g.114354065C= | CA2064632758 | TBX5 | c.*1467G= (n.*1467G=)
| |
12 | g.114354065C>G | CA244261843 | TBX5 | c.*1467G>C (n.*1467G>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354066T>A | CA2621123876 | TBX5 | c.*1466A>T (n.*1466A>T)
| gnomAD v4 |
12 | g.114354066T>C | CA2621123877 | TBX5 | c.*1466A>G (n.*1466A>G)
| gnomAD v4 |
12 | g.114354067C>A | CA2621123878 | TBX5 | c.*1465G>T (n.*1465G>T)
| gnomAD v4 |
12 | g.114354068A>G | CA2621123879 | TBX5 | c.*1464T>C (n.*1464T>C)
| gnomAD v4 |
12 | g.114354072T>C | CA2621123880 | TBX5 | c.*1460A>G (n.*1460A>G)
| gnomAD v4 |
12 | g.114354073C>A | CA2621123881 | TBX5 | c.*1459G>T (n.*1459G>T)
| gnomAD v4 |
12 | g.114354073C= | CA2064632759 | TBX5 | c.*1459G= (n.*1459G=)
| |
12 | g.114354073C>T | CA2797548179 | TBX5 | c.*1459G>A (n.*1459G>A)
| |
12 | g.114354074T>A | CA683908997 | TBX5 | c.*1458A>T (n.*1458A>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354074T>C | CA607711316 | TBX5 | c.*1458A>G (n.*1458A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354074T= | CA2064632760 | TBX5 | c.*1458A= (n.*1458A=)
| |
12 | g.114354074dup | CA952036672 | TBX5 | c.*1458dup (n.*1458dup)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354075C>G | CA2621123882 | TBX5 | c.*1457G>C (n.*1457G>C)
| gnomAD v4 |
12 | g.114354077C>A | CA2621123883 | TBX5 | c.*1455G>T (n.*1455G>T)
| gnomAD v4 |
12 | g.114354077C>T | CA2533619666 | TBX5 | c.*1455G>A (n.*1455G>A)
| |
12 | g.114354078A>C | CA2727279333 | TBX5 | c.*1454T>G (n.*1454T>G)
| dbSNP |
12 | g.114354079C= | CA2064632761 | TBX5 | c.*1453G= (n.*1453G=)
| |
12 | g.114354079C>T | CA607711318 | TBX5 | c.*1453G>A (n.*1453G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354079_114354080insT | CA655274075 | TBX5 | c.*1452_*1453insA (n.*1452_*1453insA)
| COSMIC |
12 | g.114354080G>A | CA655274076 | TBX5 | c.*1452C>T (n.*1452C>T)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.114354080G>C | CA2797548181 | TBX5 | c.*1452C>G (n.*1452C>G)
| |
12 | g.114354080G= | CA2064632762 | TBX5 | c.*1452C= (n.*1452C=)
| |
12 | g.114354080G>T | CA2621123884 | TBX5 | c.*1452C>A (n.*1452C>A)
| gnomAD v4 |
12 | g.114354082del | CA2527171043 | TBX5 | c.*1450del (n.*1450del)
| |
12 | g.114354083C>A | CA2621123885 | TBX5 | c.*1449G>T (n.*1449G>T)
| gnomAD v4 |
12 | g.114354086A= | CA2064632763 | TBX5 | c.*1446T= (n.*1446T=)
| |
12 | g.114354086A>C | CA10640993 | TBX5 | c.*1446T>G (n.*1446T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354089C>A | CA2064632765 | TBX5 | c.*1443G>T (n.*1443G>T)
| dbSNP gnomAD v4 |
12 | g.114354089C= | CA2064632764 | TBX5 | c.*1443G= (n.*1443G=)
| |
12 | g.114354089C>T | CA2621123886 | TBX5 | c.*1443G>A (n.*1443G>A)
| gnomAD v4 |
12 | g.114354091C>A | CA2621123887 | TBX5 | c.*1441G>T (n.*1441G>T)
| gnomAD v4 |
12 | g.114354092_114354094delinsACT | CA2064632767 | TBX5 | c.*1438_*1440delinsAGT (n.*1438_*1440delinsAGT)
| |
12 | g.114354092_114354098delinsACTCAGC | CA2064632766 | TBX5 | c.*1434_*1440delinsGCTGAGT (n.*1434_*1440delinsGCTGAGT)
| |
12 | g.114354094_114354095del | CA683909049 | TBX5 | c.*1438_*1439del (n.*1438_*1439del)
| dbSNP |
12 | g.114354097_114354102del | CA683909052 | TBX5 | c.*1434_*1439del (n.*1434_*1439del)
| dbSNP |
12 | g.114354094T>A | CA2621123888 | TBX5 | c.*1438A>T (n.*1438A>T)
| gnomAD v4 |
12 | g.114354095C>A | CA2621123889 | TBX5 | c.*1437G>T (n.*1437G>T)
| gnomAD v4 |
12 | g.114354096A>G | CA2621123890 | TBX5 | c.*1436T>C (n.*1436T>C)
| gnomAD v4 |
12 | g.114354097G>A | CA2621123891 | TBX5 | c.*1435C>T (n.*1435C>T)
| gnomAD v4 |
12 | g.114354097G>T | CA2621123892 | TBX5 | c.*1435C>A (n.*1435C>A)
| gnomAD v4 |
12 | g.114354100T>C | CA2797548182 | TBX5 | c.*1432A>G (n.*1432A>G)
| |
12 | g.114354101C>A | CA2797548183 | TBX5 | c.*1431G>T (n.*1431G>T)
| |
12 | g.114354103C>A | CA2064632769 | TBX5 | c.*1429G>T (n.*1429G>T)
| dbSNP |
12 | g.114354103C= | CA2064632768 | TBX5 | c.*1429G= (n.*1429G=)
| |
12 | g.114354106C>A | CA2621123893 | TBX5 | c.*1426G>T (n.*1426G>T)
| gnomAD v4 |
12 | g.114354107T>C | CA2064632771 | TBX5 | c.*1425A>G (n.*1425A>G)
| dbSNP gnomAD v4 |
12 | g.114354107T= | CA2064632770 | TBX5 | c.*1425A= (n.*1425A=)
| |
12 | g.114354108T>C | CA2621123894 | TBX5 | c.*1424A>G (n.*1424A>G)
| gnomAD v4 |
12 | g.114354112C>A | CA2621123895 | TBX5 | c.*1420G>T (n.*1420G>T)
| gnomAD v4 |
12 | g.114354112C= | CA2064632772 | TBX5 | c.*1420G= (n.*1420G=)
| |
12 | g.114354112C>G | CA683909059 | TBX5 | c.*1420G>C (n.*1420G>C)
| dbSNP |
12 | g.114354114G>T | CA2797548184 | TBX5 | c.*1418C>A (n.*1418C>A)
| |
12 | g.114354117C>A | CA2064632774 | TBX5 | c.*1415G>T (n.*1415G>T)
| dbSNP |
12 | g.114354117C= | CA2064632773 | TBX5 | c.*1415G= (n.*1415G=)
| |
12 | g.114354117C>T | CA952036678 | TBX5 | c.*1415G>A (n.*1415G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354118T>G | CA2064632776 | TBX5 | c.*1414A>C (n.*1414A>C)
| dbSNP |
12 | g.114354118T= | CA2064632775 | TBX5 | c.*1414A= (n.*1414A=)
| |
12 | g.114354122T>C | CA2064632778 | TBX5 | c.*1410A>G (n.*1410A>G)
| dbSNP |
12 | g.114354122T= | CA2064632777 | TBX5 | c.*1410A= (n.*1410A=)
| |
12 | g.114354127G>T | CA2621123896 | TBX5 | c.*1405C>A (n.*1405C>A)
| gnomAD v4 |
12 | g.114354128G>T | CA2621123897 | TBX5 | c.*1404C>A (n.*1404C>A)
| gnomAD v4 |
12 | g.114354129G>A | CA607711321 | TBX5 | c.*1403C>T (n.*1403C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354129G= | CA2064632779 | TBX5 | c.*1403C= (n.*1403C=)
| |
12 | g.114354132T>C | CA607711322 | TBX5 | c.*1400A>G (n.*1400A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354132T= | CA2064632780 | TBX5 | c.*1400A= (n.*1400A=)
| |
12 | g.114354133G>T | CA2621123898 | TBX5 | c.*1399C>A (n.*1399C>A)
| gnomAD v4 |
12 | g.114354136T>A | CA952036680 | TBX5 | c.*1396A>T (n.*1396A>T)
| gnomAD v3 gnomAD v4 |
12 | g.114354137A= | CA2064632782 | TBX5 | c.*1395T= (n.*1395T=)
| |
12 | g.114354137A>G | CA244261850 | TBX5 | c.*1395T>C (n.*1395T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354137_114354138delinsAT | CA2064632781 | TBX5 | c.*1394_*1395delinsAT (n.*1394_*1395delinsAT)
| |
12 | g.114354138del | CA244261852 | TBX5 | c.*1394del (n.*1394del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354138T>A | CA683909073 | TBX5 | c.*1394A>T (n.*1394A>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354138T= | CA2064632783 | TBX5 | c.*1394A= (n.*1394A=)
| |
12 | g.114354144del | CA2621123899 | TBX5 | c.*1393del (n.*1393del)
| gnomAD v4 |
12 | g.114354142A= | CA2064632784 | TBX5 | c.*1390T= (n.*1390T=)
| |
12 | g.114354142A>G | CA683909075 | TBX5 | c.*1390T>C (n.*1390T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354144_114354145delinsAG | CA2064632785 | TBX5 | c.*1387_*1388delinsCT (n.*1387_*1388delinsCT)
| |
12 | g.114354145G>A | CA244261857 | TBX5 | c.*1387C>T (n.*1387C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354145G= | CA2064632786 | TBX5 | c.*1387C= (n.*1387C=)
| |
12 | g.114354146del | CA607711326 | TBX5 | c.*1387del (n.*1387del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354146G>A | CA607711328 | TBX5 | c.*1386C>T (n.*1386C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354146G= | CA2064632788 | TBX5 | c.*1386C= (n.*1386C=)
| |
12 | g.114354146_114354147delinsGA | CA2497029857 | TBX5 | c.*1385_*1386delinsTC (n.*1385_*1386delinsTC)
| |
12 | g.114354146_114354148delinsGAA | CA2064632787 | TBX5 | c.*1384_*1386delinsTTC (n.*1384_*1386delinsTTC)
| |
12 | g.114354147A= | CA2064632789 | TBX5 | c.*1385T= (n.*1385T=)
| |
12 | g.114354147A>G | CA244261871 | TBX5 | c.*1385T>C (n.*1385T>C)
| dbSNP gnomAD v4 |
12 | g.114354156dup | CA607711333 | TBX5 | c.*1385dup (n.*1385dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354156del | CA10632062 | TBX5 | c.*1385del (n.*1385del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
12 | g.114354155_114354156del | CA607711330 | TBX5 | c.*1384_*1385del (n.*1384_*1385del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354150A>G | CA2621123900 | TBX5 | c.*1382T>C (n.*1382T>C)
| gnomAD v4 |
12 | g.114354151A>G | CA2621123901 | TBX5 | c.*1381T>C (n.*1381T>C)
| gnomAD v4 |
12 | g.114354152A= | CA2064632790 | TBX5 | c.*1380T= (n.*1380T=)
| |
12 | g.114354152A>G | CA244261877 | TBX5 | c.*1380T>C (n.*1380T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354153A= | CA2064632791 | TBX5 | c.*1379T= (n.*1379T=)
| |
12 | g.114354153A>G | CA683909098 | TBX5 | c.*1379T>C (n.*1379T>C)
| dbSNP |
12 | g.114354156A= | CA2064632792 | TBX5 | c.*1376T= (n.*1376T=)
| |
12 | g.114354156A>G | CA244261885 | TBX5 | c.*1376T>C (n.*1376T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354156A>T | CA244261887 | TBX5 | c.*1376T>A (n.*1376T>A)
| dbSNP |
12 | g.114354156_114354157delinsAT | CA2064632793 | TBX5 | c.*1375_*1376delinsAT (n.*1375_*1376delinsAT)
| |