Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.153813337_153813338delinsAC | CA2480600661 | GATAD2B | c.1331_1332delinsGT (p.Cys444=) c.1283_1284delinsGT (p.Cys428=) c.585_586delinsGT | |
1 | g.153813338del | CA16042316 | GATAD2B | c.1331del (p.Cys444LeufsTer2) c.1283del (p.Cys428LeufsTer2) c.585del | ClinVar dbSNP |
1 | g.153813338C>A | CA342524347 | GATAD2B | c.1331G>T (p.Cys444Phe) c.1283G>T (p.Cys428Phe) c.585G>T | COSMIC |
1 | g.153813338C>G | CA342524350 | GATAD2B | c.1331G>C (p.Cys444Ser) c.1283G>C (p.Cys428Ser) c.585G>C | |
1 | g.153813338C>T | CA342524354 | GATAD2B | c.1331G>A (p.Cys444Tyr) c.1283G>A (p.Cys428Tyr) c.585G>A | |
1 | g.153813339A>C | CA342524363 | GATAD2B | c.1330T>G (p.Cys444Gly) c.1282T>G (p.Cys428Gly) c.584T>G | |
1 | g.153813339A>G | CA342524364 | GATAD2B | c.1330T>C (p.Cys444Arg) c.1282T>C (p.Cys428Arg) c.584T>C | |
1 | g.153813339A>T | CA342524362 | GATAD2B | c.1330T>A (p.Cys444Ser) c.1282T>A (p.Cys428Ser) c.584T>A | |
1 | g.153813340C>A | CA342524367 | GATAD2B | c.1329G>T (p.Gln443His) c.1281G>T (p.Gln427His) c.583G>T | |
1 | g.153813340C>G | CA342524369 | GATAD2B | c.1329G>C (p.Gln443His) c.1281G>C (p.Gln427His) c.583G>C | |
1 | g.153813340C>T | CA420830883 | GATAD2B | c.1329G>A (p.Gln443=) c.1281G>A (p.Gln427=) c.583G>A | ClinVar |
1 | g.153813341T>A | CA342524374 | GATAD2B | c.1328A>T (p.Gln443Leu) c.1280A>T (p.Gln427Leu) c.582A>T | |
1 | g.153813341T>C | CA342524377 | GATAD2B | c.1328A>G (p.Gln443Arg) c.1280A>G (p.Gln427Arg) c.582A>G | |
1 | g.153813341T>G | CA342524379 | GATAD2B | c.1328A>C (p.Gln443Pro) c.1280A>C (p.Gln427Pro) c.582A>C | |
1 | g.153813342G>A | CA342524392 | GATAD2B | c.1327C>T (p.Gln443Ter) c.1279C>T (p.Gln427Ter) c.581C>T | |
1 | g.153813342G>C | CA342524384 | GATAD2B | c.1327C>G (p.Gln443Glu) c.1279C>G (p.Gln427Glu) c.581C>G | |
1 | g.153813342G>T | CA342524387 | GATAD2B | c.1327C>A (p.Gln443Lys) c.1279C>A (p.Gln427Lys) c.581C>A | |
1 | g.153813343C>A | CA342524399 | GATAD2B | c.1326G>T (p.Glu442Asp) c.1278G>T (p.Glu426Asp) c.580G>T | |
1 | g.153813343C>G | CA342524402 | GATAD2B | c.1326G>C (p.Glu442Asp) c.1278G>C (p.Glu426Asp) c.580G>C | |
1 | g.153813343C>T | CA420830884 | GATAD2B | c.1326G>A (p.Glu442=) c.1278G>A (p.Glu426=) c.580G>A | gnomAD v4 |
1 | g.153813344T>A | CA342524409 | GATAD2B | c.1325A>T (p.Glu442Val) c.1277A>T (p.Glu426Val) c.579A>T | |
1 | g.153813344T>C | CA342524411 | GATAD2B | c.1325A>G (p.Glu442Gly) c.1277A>G (p.Glu426Gly) c.579A>G | |
1 | g.153813344T>G | CA342524415 | GATAD2B | c.1325A>C (p.Glu442Ala) c.1277A>C (p.Glu426Ala) c.579A>C | |
1 | g.153813345C>A | CA342524427 | GATAD2B | c.1324G>T (p.Glu442Ter) c.1276G>T (p.Glu426Ter) c.578G>T | |
1 | g.153813345C>G | CA342524423 | GATAD2B | c.1324G>C (p.Glu442Gln) c.1276G>C (p.Glu426Gln) c.578G>C | |
1 | g.153813345C>T | CA342524421 | GATAD2B | c.1324G>A (p.Glu442Lys) c.1276G>A (p.Glu426Lys) c.578G>A | COSMIC |
1 | g.153813346A>C | CA342524430 | GATAD2B | c.1323T>G (p.Cys441Trp) c.1275T>G (p.Cys425Trp) c.577T>G | |
1 | g.153813346A>G | CA420830885 | GATAD2B | c.1323T>C (p.Cys441=) c.1275T>C (p.Cys425=) c.577T>C | |
1 | g.153813346A>T | CA342524432 | GATAD2B | c.1323T>A (p.Cys441Ter) c.1275T>A (p.Cys425Ter) c.577T>A | |
1 | g.153813347C>A | CA342524436 | GATAD2B | c.1322G>T (p.Cys441Phe) c.1274G>T (p.Cys425Phe) c.576G>T | gnomAD v4 |
1 | g.153813347C>G | CA342524441 | GATAD2B | c.1322G>C (p.Cys441Ser) c.1274G>C (p.Cys425Ser) c.576G>C | |
1 | g.153813347C>T | CA342524444 | GATAD2B | c.1322G>A (p.Cys441Tyr) c.1274G>A (p.Cys425Tyr) c.576G>A | |
1 | g.153813348A>C | CA342524449 | GATAD2B | c.1321T>G (p.Cys441Gly) c.1273T>G (p.Cys425Gly) c.575T>G | |
1 | g.153813348A>G | CA342524452 | GATAD2B | c.1321T>C (p.Cys441Arg) c.1273T>C (p.Cys425Arg) c.575T>C | ClinVar dbSNP |
1 | g.153813348A>T | CA342524462 | GATAD2B | c.1321T>A (p.Cys441Ser) c.1273T>A (p.Cys425Ser) c.575T>A | ClinVar |
1 | g.153813349T>A | CA420830886 | GATAD2B | c.1320A>T (p.Leu440=) c.1272A>T (p.Leu424=) c.574A>T | |
1 | g.153813349T>C | CA420830887 | GATAD2B | c.1320A>G (p.Leu440=) c.1272A>G (p.Leu424=) c.574A>G | ClinVar dbSNP gnomAD v4 |
1 | g.153813349T>G | CA420830888 | GATAD2B | c.1320A>C (p.Leu440=) c.1272A>C (p.Leu424=) c.574A>C | |
1 | g.153813350A>C | CA342524469 | GATAD2B | c.1319T>G (p.Leu440Arg) c.1271T>G (p.Leu424Arg) c.573T>G | |
1 | g.153813350A>G | CA342524471 | GATAD2B | c.1319T>C (p.Leu440Pro) c.1271T>C (p.Leu424Pro) c.573T>C | ClinVar dbSNP |
1 | g.153813350A>T | CA342524475 | GATAD2B | c.1319T>A (p.Leu440Gln) c.1271T>A (p.Leu424Gln) c.573T>A | |
1 | g.153813351G>A | CA420830889 | GATAD2B | c.1318C>T (p.Leu440=) c.1270C>T (p.Leu424=) c.572C>T | |
1 | g.153813351G>C | CA342524480 | GATAD2B | c.1318C>G (p.Leu440Val) c.1270C>G (p.Leu424Val) c.572C>G | |
1 | g.153813351G>T | CA342524491 | GATAD2B | c.1318C>A (p.Leu440Ile) c.1270C>A (p.Leu424Ile) c.572C>A | |
1 | g.153813351_153813352delinsGA | CA2480600663 | GATAD2B | c.1317_1318delinsTC (p.Ile439=) c.1269_1270delinsTC (p.Ile423=) c.571_572delinsTC | |
1 | g.153813352A>C | CA342524495 | GATAD2B | c.1317T>G (p.Ile439Met) c.1269T>G (p.Ile423Met) c.571T>G | |
1 | g.153813352A>G | CA420830891 | GATAD2B | c.1317T>C (p.Ile439=) c.1269T>C (p.Ile423=) c.571T>C | |
1 | g.153813352A>T | CA420830892 | GATAD2B | c.1317T>A (p.Ile439=) c.1269T>A (p.Ile423=) c.571T>A | |
1 | g.153813353del | CA526664449 | GATAD2B | c.1317del (p.Leu440TyrfsTer6) c.1269del (p.Leu424TyrfsTer6) c.571del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153813353A= | CA2480600664 | GATAD2B | c.1316T= (p.Ile439=) c.1268T= (p.Ile423=) c.570T= |