| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114674562_114674577delinsACCGGGCTCCTGCGCT | CA2064766328 | TBX3 | c.1298_1313delinsAGCGCAGGAGCCCGGT (p.Glu433=) c.1358_1373delinsAGCGCAGGAGCCCGGT (p.Glu453=) | |
| 12 | g.114674565_114674579del | CA6809933 | TBX3 | c.1298_1312del (p.Glu433_Pro437del) c.1358_1372del (p.Glu453_Pro457del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674577_114674584dup | CA2695217427 | TBX3 | c.1294_1301dup (p.Pro437AlafsTer?) c.1354_1361dup (p.Pro457AlafsTer?) | |
| 12 | g.114674577T>A | CA386869218 | TBX3 | c.1298A>T (p.Glu433Val) c.1358A>T (p.Glu453Val) | |
| 12 | g.114674577T>C | CA386869219 | TBX3 | c.1298A>G (p.Glu433Gly) c.1358A>G (p.Glu453Gly) | dbSNP gnomAD v4 |
| 12 | g.114674577T>G | CA386869220 | TBX3 | c.1298A>C (p.Glu433Ala) c.1358A>C (p.Glu453Ala) | |
| 12 | g.114674578C>A | CA386869221 | TBX3 | c.1297G>T (p.Glu433Ter) c.1357G>T (p.Glu453Ter) | gnomAD v4 |
| 12 | g.114674578C>G | CA386869222 | TBX3 | c.1297G>C (p.Glu433Gln) c.1357G>C (p.Glu453Gln) | |
| 12 | g.114674578C>T | CA386869223 | TBX3 | c.1297G>A (p.Glu433Lys) c.1357G>A (p.Glu453Lys) | gnomAD v4 |
| 12 | g.114674579dup | CA2621130028 | TBX3 | c.1297dup (p.Glu433GlyfsTer?) c.1357dup (p.Glu453GlyfsTer?) | gnomAD v4 |
| 12 | g.114674579C>A | CA386869224 | TBX3 | c.1296G>T (p.Glu432Asp) c.1356G>T (p.Glu452Asp) | gnomAD v4 |
| 12 | g.114674579C= | CA2064766375 | TBX3 | c.1296G= (p.Glu432=) c.1356G= (p.Glu452=) | |
| 12 | g.114674579C>G | CA386869225 | TBX3 | c.1296G>C (p.Glu432Asp) c.1356G>C (p.Glu452Asp) | |
| 12 | g.114674579C>T | CA482136518 | TBX3 | c.1296G>A (p.Glu432=) c.1356G>A (p.Glu452=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674580T>A | CA386869226 | TBX3 | c.1295A>T (p.Glu432Val) c.1355A>T (p.Glu452Val) | |
| 12 | g.114674580T>C | CA386869227 | TBX3 | c.1295A>G (p.Glu432Gly) c.1355A>G (p.Glu452Gly) | dbSNP gnomAD v4 |
| 12 | g.114674580T>G | CA386869228 | TBX3 | c.1295A>C (p.Glu432Ala) c.1355A>C (p.Glu452Ala) | |
| 12 | g.114674581C>A | CA386869229 | TBX3 | c.1294G>T (p.Glu432Ter) c.1354G>T (p.Glu452Ter) | gnomAD v4 |
| 12 | g.114674581C= | CA2064766380 | TBX3 | c.1294G= (p.Glu432=) c.1354G= (p.Glu452=) | |
| 12 | g.114674581C>G | CA386869231 | TBX3 | c.1294G>C (p.Glu432Gln) c.1354G>C (p.Glu452Gln) | dbSNP COSMIC |
| 12 | g.114674581C>T | CA386869230 | TBX3 | c.1294G>A (p.Glu432Lys) c.1354G>A (p.Glu452Lys) | dbSNP |
| 12 | g.114674581_114674588dup | CA2580085843 | TBX3 | c.1287_1294dup (p.Glu432GlyfsTer?) c.1347_1354dup (p.Glu452GlyfsTer?) | ClinVar |
| 12 | g.114674582C>A | CA482136523 | TBX3 | c.1293G>T (p.Ala431=) c.1353G>T (p.Ala451=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674582C= | CA2064766383 | TBX3 | c.1293G= (p.Ala431=) c.1353G= (p.Ala451=) | |
| 12 | g.114674582C>G | CA482136524 | TBX3 | c.1293G>C (p.Ala431=) c.1353G>C (p.Ala451=) | |
| 12 | g.114674582C>T | CA482136525 | TBX3 | c.1293G>A (p.Ala431=) c.1353G>A (p.Ala451=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674583G>A | CA6809942 | TBX3 | c.1292C>T (p.Ala431Val) c.1352C>T (p.Ala451Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674583G>C | CA386869232 | TBX3 | c.1292C>G (p.Ala431Gly) c.1352C>G (p.Ala451Gly) | dbSNP gnomAD v4 |
| 12 | g.114674583G= | CA2064766385 | TBX3 | c.1292C= (p.Ala431=) c.1352C= (p.Ala451=) | |
| 12 | g.114674583G>T | CA386869233 | TBX3 | c.1292C>A (p.Ala431Glu) c.1352C>A (p.Ala451Glu) | gnomAD v4 |
| 12 | g.114674584C>A | CA386869234 | TBX3 | c.1291G>T (p.Ala431Ser) c.1351G>T (p.Ala451Ser) | dbSNP gnomAD v4 |
| 12 | g.114674584C= | CA2064766388 | TBX3 | c.1291G= (p.Ala431=) c.1351G= (p.Ala451=) | |
| 12 | g.114674584C>G | CA386869235 | TBX3 | c.1291G>C (p.Ala431Pro) c.1351G>C (p.Ala451Pro) | |
| 12 | g.114674584C>T | CA386869236 | TBX3 | c.1291G>A (p.Ala431Thr) c.1351G>A (p.Ala451Thr) | dbSNP gnomAD v4 |
| 12 | g.114674585G>A | CA6809943 | TBX3 | c.1290C>T (p.Gly430=) c.1350C>T (p.Gly450=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674585G>C | CA482136529 | TBX3 | c.1290C>G (p.Gly430=) c.1350C>G (p.Gly450=) | |
| 12 | g.114674585G= | CA2064766392 | TBX3 | c.1290C= (p.Gly430=) c.1350C= (p.Gly450=) | |
| 12 | g.114674585G>T | CA482136528 | TBX3 | c.1290C>A (p.Gly430=) c.1350C>A (p.Gly450=) | gnomAD v4 |
| 12 | g.114674586C>A | CA386869237 | TBX3 | c.1289G>T (p.Gly430Val) c.1349G>T (p.Gly450Val) | dbSNP |
| 12 | g.114674586C= | CA2064766396 | TBX3 | c.1289G= (p.Gly430=) c.1349G= (p.Gly450=) | |
| 12 | g.114674586C>G | CA386869238 | TBX3 | c.1289G>C (p.Gly430Ala) c.1349G>C (p.Gly450Ala) | gnomAD v4 |
| 12 | g.114674586C>T | CA6809944 | TBX3 | c.1289G>A (p.Gly430Asp) c.1349G>A (p.Gly450Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674587C>A | CA386869239 | TBX3 | c.1288G>T (p.Gly430Cys) c.1348G>T (p.Gly450Cys) | |
| 12 | g.114674587C= | CA2064766400 | TBX3 | c.1288G= (p.Gly430=) c.1348G= (p.Gly450=) | |
| 12 | g.114674587C>G | CA386869240 | TBX3 | c.1288G>C (p.Gly430Arg) c.1348G>C (p.Gly450Arg) | gnomAD v4 |
| 12 | g.114674587C>T | CA386869241 | TBX3 | c.1288G>A (p.Gly430Ser) c.1348G>A (p.Gly450Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674588C>A | CA482136534 | TBX3 | c.1287G>T (p.Leu429=) c.1347G>T (p.Leu449=) | dbSNP gnomAD v4 |
| 12 | g.114674588C= | CA2064766403 | TBX3 | c.1287G= (p.Leu429=) c.1347G= (p.Leu449=) | |
| 12 | g.114674588C>G | CA482136533 | TBX3 | c.1287G>C (p.Leu429=) c.1347G>C (p.Leu449=) | |
| 12 | g.114674588C>T | CA482136532 | TBX3 | c.1287G>A (p.Leu429=) c.1347G>A (p.Leu449=) | dbSNP |
| 12 | g.114674589A>C | CA386869244 | TBX3 | c.1286T>G (p.Leu429Arg) c.1346T>G (p.Leu449Arg) | |
| 12 | g.114674589A>G | CA386869242 | TBX3 | c.1286T>C (p.Leu429Pro) c.1346T>C (p.Leu449Pro) | |
| 12 | g.114674589A>T | CA386869243 | TBX3 | c.1286T>A (p.Leu429Gln) c.1346T>A (p.Leu449Gln) | dbSNP |
| 12 | g.114674590G>A | CA482136538 | TBX3 | c.1285C>T (p.Leu429=) c.1345C>T (p.Leu449=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674590G>C | CA386869245 | TBX3 | c.1285C>G (p.Leu429Val) c.1345C>G (p.Leu449Val) | dbSNP |
| 12 | g.114674590G= | CA2064766406 | TBX3 | c.1285C= (p.Leu429=) c.1345C= (p.Leu449=) | |
| 12 | g.114674590G>T | CA386869246 | TBX3 | c.1285C>A (p.Leu429Met) c.1345C>A (p.Leu449Met) | gnomAD v4 |
| 12 | g.114674591G>A | CA482136540 | TBX3 | c.1284C>T (p.Gly428=) c.1344C>T (p.Gly448=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674591G>C | CA482136544 | TBX3 | c.1284C>G (p.Gly428=) c.1344C>G (p.Gly448=) | dbSNP |
| 12 | g.114674591G= | CA2064766410 | TBX3 | c.1284C= (p.Gly428=) c.1344C= (p.Gly448=) | |
| 12 | g.114674591G>T | CA482136542 | TBX3 | c.1284C>A (p.Gly428=) c.1344C>A (p.Gly448=) | gnomAD v4 |
| 12 | g.114674592C>A | CA386869247 | TBX3 | c.1283G>T (p.Gly428Val) c.1343G>T (p.Gly448Val) | gnomAD v4 |
| 12 | g.114674592C= | CA2064766413 | TBX3 | c.1283G= (p.Gly428=) c.1343G= (p.Gly448=) | |
| 12 | g.114674592C>G | CA386869248 | TBX3 | c.1283G>C (p.Gly428Ala) c.1343G>C (p.Gly448Ala) | dbSNP |
| 12 | g.114674592C>T | CA386869249 | TBX3 | c.1283G>A (p.Gly428Asp) c.1343G>A (p.Gly448Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674593C>A | CA386869250 | TBX3 | c.1282G>T (p.Gly428Cys) c.1342G>T (p.Gly448Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674593C= | CA2064766418 | TBX3 | c.1282G= (p.Gly428=) c.1342G= (p.Gly448=) | |
| 12 | g.114674593C>G | CA386869251 | TBX3 | c.1282G>C (p.Gly428Arg) c.1342G>C (p.Gly448Arg) | dbSNP |
| 12 | g.114674593C>T | CA386869252 | TBX3 | c.1282G>A (p.Gly428Ser) c.1342G>A (p.Gly448Ser) | dbSNP gnomAD v4 COSMIC |
| 12 | g.114674594G>A | CA6809945 | TBX3 | c.1281C>T (p.Arg427=) c.1341C>T (p.Arg447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674594G>C | CA482136547 | TBX3 | c.1281C>G (p.Arg427=) c.1341C>G (p.Arg447=) | dbSNP |
| 12 | g.114674594G= | CA2064766422 | TBX3 | c.1281C= (p.Arg427=) c.1341C= (p.Arg447=) | |
| 12 | g.114674594G>T | CA482136548 | TBX3 | c.1281C>A (p.Arg427=) c.1341C>A (p.Arg447=) | |
| 12 | g.114674595C>A | CA386869253 | TBX3 | c.1280G>T (p.Arg427Leu) c.1340G>T (p.Arg447Leu) | |
| 12 | g.114674595C= | CA2064766425 | TBX3 | c.1280G= (p.Arg427=) c.1340G= (p.Arg447=) | |
| 12 | g.114674595C>G | CA386869254 | TBX3 | c.1280G>C (p.Arg427Pro) c.1340G>C (p.Arg447Pro) | |
| 12 | g.114674595C>T | CA6809946 | TBX3 | c.1280G>A (p.Arg427His) c.1340G>A (p.Arg447His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674596G>A | CA244143749 | TBX3 | c.1279C>T (p.Arg427Cys) c.1339C>T (p.Arg447Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674596G>C | CA386869256 | TBX3 | c.1279C>G (p.Arg427Gly) c.1339C>G (p.Arg447Gly) | gnomAD v4 |
| 12 | g.114674596G= | CA2064766428 | TBX3 | c.1279C= (p.Arg427=) c.1339C= (p.Arg447=) | |
| 12 | g.114674596G>T | CA386869255 | TBX3 | c.1279C>A (p.Arg427Ser) c.1339C>A (p.Arg447Ser) | gnomAD v4 |
| 12 | g.114674597A>C | CA482136552 | TBX3 | c.1278T>G (p.Thr426=) c.1338T>G (p.Thr446=) | |
| 12 | g.114674597A>G | CA482136553 | TBX3 | c.1278T>C (p.Thr426=) c.1338T>C (p.Thr446=) | |
| 12 | g.114674597A>T | CA482136554 | TBX3 | c.1278T>A (p.Thr426=) c.1338T>A (p.Thr446=) | |
| 12 | g.114674598G>A | CA386869257 | TBX3 | c.1277C>T (p.Thr426Ile) c.1337C>T (p.Thr446Ile) | dbSNP gnomAD v4 |
| 12 | g.114674598G>C | CA244143750 | TBX3 | c.1277C>G (p.Thr426Ser) c.1337C>G (p.Thr446Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674598G= | CA2064766431 | TBX3 | c.1277C= (p.Thr426=) c.1337C= (p.Thr446=) | |
| 12 | g.114674598G>T | CA386869258 | TBX3 | c.1277C>A (p.Thr426Asn) c.1337C>A (p.Thr446Asn) | gnomAD v4 |
| 12 | g.114674599T>A | CA386869259 | TBX3 | c.1276A>T (p.Thr426Ser) c.1336A>T (p.Thr446Ser) | dbSNP |
| 12 | g.114674599T>C | CA386869260 | TBX3 | c.1276A>G (p.Thr426Ala) c.1336A>G (p.Thr446Ala) | |
| 12 | g.114674599T>G | CA386869261 | TBX3 | c.1276A>C (p.Thr426Pro) c.1336A>C (p.Thr446Pro) | dbSNP |
| 12 | g.114674600G>A | CA482136561 | TBX3 | c.1275C>T (p.Ser425=) c.1335C>T (p.Ser445=) | dbSNP |
| 12 | g.114674600G>C | CA386869262 | TBX3 | c.1275C>G (p.Ser425Arg) c.1335C>G (p.Ser445Arg) | gnomAD v4 |
| 12 | g.114674600G>T | CA386869263 | TBX3 | c.1275C>A (p.Ser425Arg) c.1335C>A (p.Ser445Arg) | gnomAD v4 |
| 12 | g.114674601C>A | CA386869264 | TBX3 | c.1274G>T (p.Ser425Ile) c.1334G>T (p.Ser445Ile) | |
| 12 | g.114674601C>G | CA386869266 | TBX3 | c.1274G>C (p.Ser425Thr) c.1334G>C (p.Ser445Thr) | |
| 12 | g.114674601C>T | CA386869265 | TBX3 | c.1274G>A (p.Ser425Asn) c.1334G>A (p.Ser445Asn) | dbSNP gnomAD v4 |
| 12 | g.114674602T>A | CA386869267 | TBX3 | c.1273A>T (p.Ser425Cys) c.1333A>T (p.Ser445Cys) | |
| 12 | g.114674602T>C | CA6809947 | TBX3 | c.1273A>G (p.Ser425Gly) c.1333A>G (p.Ser445Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674602T>G | CA6809948 | TBX3 | c.1273A>C (p.Ser425Arg) c.1333A>C (p.Ser445Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674602T= | CA2064766435 | TBX3 | c.1273A= (p.Ser425=) c.1333A= (p.Ser445=) | |
| 12 | g.114674603G>A | CA6809949 | TBX3 | c.1272C>T (p.Ser424=) c.1332C>T (p.Ser444=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674603G>C | CA482136569 | TBX3 | c.1272C>G (p.Ser424=) c.1332C>G (p.Ser444=) | gnomAD v4 |
| 12 | g.114674603G= | CA2064766438 | TBX3 | c.1272C= (p.Ser424=) c.1332C= (p.Ser444=) | |
| 12 | g.114674603G>T | CA482136571 | TBX3 | c.1272C>A (p.Ser424=) c.1332C>A (p.Ser444=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674604G>A | CA386869268 | TBX3 | c.1271C>T (p.Ser424Phe) c.1331C>T (p.Ser444Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674604G>C | CA386869270 | TBX3 | c.1271C>G (p.Ser424Cys) c.1331C>G (p.Ser444Cys) | |
| 12 | g.114674604G= | CA2064766441 | TBX3 | c.1271C= (p.Ser424=) c.1331C= (p.Ser444=) | |
| 12 | g.114674604G>T | CA386869269 | TBX3 | c.1271C>A (p.Ser424Tyr) c.1331C>A (p.Ser444Tyr) | gnomAD v4 |
| 12 | g.114674605A>C | CA386869271 | TBX3 | c.1270T>G (p.Ser424Ala) c.1330T>G (p.Ser444Ala) | |
| 12 | g.114674605A>G | CA386869272 | TBX3 | c.1270T>C (p.Ser424Pro) c.1330T>C (p.Ser444Pro) | gnomAD v4 |
| 12 | g.114674605A>T | CA386869273 | TBX3 | c.1270T>A (p.Ser424Thr) c.1330T>A (p.Ser444Thr) | |
| 12 | g.114674606C>A | CA482136576 | TBX3 | c.1269G>T (p.Ser423=) c.1329G>T (p.Ser443=) | |
| 12 | g.114674606C= | CA2064766444 | TBX3 | c.1269G= (p.Ser423=) c.1329G= (p.Ser443=) | |
| 12 | g.114674606C>G | CA482136577 | TBX3 | c.1269G>C (p.Ser423=) c.1329G>C (p.Ser443=) | dbSNP gnomAD v4 |
| 12 | g.114674606C>T | CA6809950 | TBX3 | c.1269G>A (p.Ser423=) c.1329G>A (p.Ser443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.114674607G>A | CA386869274 | TBX3 | c.1268C>T (p.Ser423Leu) c.1328C>T (p.Ser443Leu) | dbSNP gnomAD v4 |
| 12 | g.114674607G>C | CA386869275 | TBX3 | c.1268C>G (p.Ser423Trp) c.1328C>G (p.Ser443Trp) | |
| 12 | g.114674607G= | CA2064766450 | TBX3 | c.1268C= (p.Ser423=) c.1328C= (p.Ser443=) | |
| 12 | g.114674607G>T | CA386869276 | TBX3 | c.1268C>A (p.Ser423Ter) c.1328C>A (p.Ser443Ter) | gnomAD v4 |
| 12 | g.114674608A= | CA2064766453 | TBX3 | c.1267T= (p.Ser423=) c.1327T= (p.Ser443=) | |
| 12 | g.114674608A>C | CA6809951 | TBX3 | c.1267T>G (p.Ser423Ala) c.1327T>G (p.Ser443Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674608A>G | CA386869277 | TBX3 | c.1267T>C (p.Ser423Pro) c.1327T>C (p.Ser443Pro) | gnomAD v4 |
| 12 | g.114674608A>T | CA386869278 | TBX3 | c.1267T>A (p.Ser423Thr) c.1327T>A (p.Ser443Thr) | |
| 12 | g.114674609G>A | CA6809952 | TBX3 | c.1266C>T (p.Ile422=) c.1326C>T (p.Ile442=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674609G>C | CA386869279 | TBX3 | c.1266C>G (p.Ile422Met) c.1326C>G (p.Ile442Met) | gnomAD v4 |
| 12 | g.114674609G= | CA2064766457 | TBX3 | c.1266C= (p.Ile422=) c.1326C= (p.Ile442=) | |
| 12 | g.114674609G>T | CA482136584 | TBX3 | c.1266C>A (p.Ile422=) c.1326C>A (p.Ile442=) | gnomAD v4 |
| 12 | g.114674610A>C | CA386869280 | TBX3 | c.1265T>G (p.Ile422Ser) c.1325T>G (p.Ile442Ser) | |
| 12 | g.114674610A>G | CA386869282 | TBX3 | c.1265T>C (p.Ile422Thr) c.1325T>C (p.Ile442Thr) | gnomAD v4 |
| 12 | g.114674610A>T | CA386869281 | TBX3 | c.1265T>A (p.Ile422Asn) c.1325T>A (p.Ile442Asn) | |
| 12 | g.114674611T>A | CA386869283 | TBX3 | c.1264A>T (p.Ile422Phe) c.1324A>T (p.Ile442Phe) | |
| 12 | g.114674611T>C | CA386869284 | TBX3 | c.1264A>G (p.Ile422Val) c.1324A>G (p.Ile442Val) | |
| 12 | g.114674611T>G | CA386869285 | TBX3 | c.1264A>C (p.Ile422Leu) c.1324A>C (p.Ile442Leu) | |
| 12 | g.114674612G>A | CA482136593 | TBX3 | c.1263C>T (p.Thr421=) c.1323C>T (p.Thr441=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674612G>C | CA482136589 | TBX3 | c.1263C>G (p.Thr421=) c.1323C>G (p.Thr441=) | dbSNP |
| 12 | g.114674612G= | CA2064766460 | TBX3 | c.1263C= (p.Thr421=) c.1323C= (p.Thr441=) | |
| 12 | g.114674612G>T | CA482136591 | TBX3 | c.1263C>A (p.Thr421=) c.1323C>A (p.Thr441=) | gnomAD v4 |
| 12 | g.114674613G>A | CA386869286 | TBX3 | c.1262C>T (p.Thr421Ile) c.1322C>T (p.Thr441Ile) | gnomAD v4 |
| 12 | g.114674613G>C | CA386869287 | TBX3 | c.1262C>G (p.Thr421Ser) c.1322C>G (p.Thr441Ser) | |
| 12 | g.114674613G>T | CA386869288 | TBX3 | c.1262C>A (p.Thr421Asn) c.1322C>A (p.Thr441Asn) | gnomAD v4 |
| 12 | g.114674614T>A | CA386869289 | TBX3 | c.1261A>T (p.Thr421Ser) c.1321A>T (p.Thr441Ser) | dbSNP |
| 12 | g.114674614T>C | CA386869290 | TBX3 | c.1261A>G (p.Thr421Ala) c.1321A>G (p.Thr441Ala) | |
| 12 | g.114674614T>G | CA386869291 | TBX3 | c.1261A>C (p.Thr421Pro) c.1321A>C (p.Thr441Pro) | |
| 12 | g.114674615G>A | CA482136598 | TBX3 | c.1260C>T (p.Ala420=) c.1320C>T (p.Ala440=) | gnomAD v4 |
| 12 | g.114674615G>C | CA482136600 | TBX3 | c.1260C>G (p.Ala420=) c.1320C>G (p.Ala440=) | |
| 12 | g.114674615G>T | CA482136601 | TBX3 | c.1260C>A (p.Ala420=) c.1320C>A (p.Ala440=) | gnomAD v4 |
| 12 | g.114674616G>A | CA244143788 | TBX3 | c.1259C>T (p.Ala420Val) c.1319C>T (p.Ala440Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674616G>C | CA386869292 | TBX3 | c.1259C>G (p.Ala420Gly) c.1319C>G (p.Ala440Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674616G= | CA2064766462 | TBX3 | c.1259C= (p.Ala420=) c.1319C= (p.Ala440=) | |
| 12 | g.114674616G>T | CA386869293 | TBX3 | c.1259C>A (p.Ala420Asp) c.1319C>A (p.Ala440Asp) | gnomAD v4 |
| 12 | g.114674617C>A | CA6809953 | TBX3 | c.1258G>T (p.Ala420Ser) c.1318G>T (p.Ala440Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674617C= | CA2064766465 | TBX3 | c.1258G= (p.Ala420=) c.1318G= (p.Ala440=) | |
| 12 | g.114674617C>G | CA386869294 | TBX3 | c.1258G>C (p.Ala420Pro) c.1318G>C (p.Ala440Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674617C>T | CA386869295 | TBX3 | c.1258G>A (p.Ala420Thr) c.1318G>A (p.Ala440Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674618G>A | CA482136613 | TBX3 | c.1257C>T (p.Pro419=) c.1317C>T (p.Pro439=) | dbSNP COSMIC |
| 12 | g.114674618G>C | CA482136607 | TBX3 | c.1257C>G (p.Pro419=) c.1317C>G (p.Pro439=) | |
| 12 | g.114674618G>T | CA482136610 | TBX3 | c.1257C>A (p.Pro419=) c.1317C>A (p.Pro439=) | gnomAD v4 |
| 12 | g.114674619G>A | CA6809954 | TBX3 | c.1256C>T (p.Pro419Leu) c.1316C>T (p.Pro439Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674619G>C | CA386869296 | TBX3 | c.1256C>G (p.Pro419Arg) c.1316C>G (p.Pro439Arg) | |
| 12 | g.114674619G= | CA2064766471 | TBX3 | c.1256C= (p.Pro419=) c.1316C= (p.Pro439=) | |
| 12 | g.114674619G>T | CA386869297 | TBX3 | c.1256C>A (p.Pro419His) c.1316C>A (p.Pro439His) | gnomAD v4 |
| 12 | g.114674620G>A | CA386869298 | TBX3 | c.1255C>T (p.Pro419Ser) c.1315C>T (p.Pro439Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674620G>C | CA386869299 | TBX3 | c.1255C>G (p.Pro419Ala) c.1315C>G (p.Pro439Ala) | |
| 12 | g.114674620G= | CA2064766474 | TBX3 | c.1255C= (p.Pro419=) c.1315C= (p.Pro439=) | |
| 12 | g.114674620G>T | CA386869300 | TBX3 | c.1255C>A (p.Pro419Thr) c.1315C>A (p.Pro439Thr) | |
| 12 | g.114674621G>A | CA482136625 | TBX3 | c.1254C>T (p.Ser418=) c.1314C>T (p.Ser438=) | dbSNP gnomAD v4 |
| 12 | g.114674621G>C | CA386869301 | TBX3 | c.1254C>G (p.Ser418Arg) c.1314C>G (p.Ser438Arg) | |
| 12 | g.114674621G>T | CA386869302 | TBX3 | c.1254C>A (p.Ser418Arg) c.1314C>A (p.Ser438Arg) | gnomAD v4 |
| 12 | g.114674622C>A | CA386869303 | TBX3 | c.1253G>T (p.Ser418Ile) c.1313G>T (p.Ser438Ile) | |
| 12 | g.114674622C>G | CA386869304 | TBX3 | c.1253G>C (p.Ser418Thr) c.1313G>C (p.Ser438Thr) | dbSNP |
| 12 | g.114674622C>T | CA386869305 | TBX3 | c.1253G>A (p.Ser418Asn) c.1313G>A (p.Ser438Asn) | dbSNP |
| 12 | g.114674623T>A | CA386869308 | TBX3 | c.1252A>T (p.Ser418Cys) c.1312A>T (p.Ser438Cys) | |
| 12 | g.114674623T>C | CA386869307 | TBX3 | c.1252A>G (p.Ser418Gly) c.1312A>G (p.Ser438Gly) | gnomAD v4 |
| 12 | g.114674623T>G | CA386869306 | TBX3 | c.1252A>C (p.Ser418Arg) c.1312A>C (p.Ser438Arg) | |
| 12 | g.114674624A= | CA2064766477 | TBX3 | c.1251T= (p.His417=) c.1311T= (p.His437=) | |
| 12 | g.114674624A>C | CA386869309 | TBX3 | c.1251T>G (p.His417Gln) c.1311T>G (p.His437Gln) | dbSNP |
| 12 | g.114674624A>G | CA482136634 | TBX3 | c.1251T>C (p.His417=) c.1311T>C (p.His437=) | |
| 12 | g.114674624A>T | CA386869310 | TBX3 | c.1251T>A (p.His417Gln) c.1311T>A (p.His437Gln) | dbSNP |
| 12 | g.114674625T>A | CA386869311 | TBX3 | c.1250A>T (p.His417Leu) c.1310A>T (p.His437Leu) | |
| 12 | g.114674625T>C | CA6809955 | TBX3 | c.1250A>G (p.His417Arg) c.1310A>G (p.His437Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674625T>G | CA386869312 | TBX3 | c.1250A>C (p.His417Pro) c.1310A>C (p.His437Pro) | |
| 12 | g.114674625T= | CA2064766481 | TBX3 | c.1250A= (p.His417=) c.1310A= (p.His437=) | |
| 12 | g.114674626G>A | CA386869313 | TBX3 | c.1249C>T (p.His417Tyr) c.1309C>T (p.His437Tyr) | |
| 12 | g.114674626G>C | CA386869314 | TBX3 | c.1249C>G (p.His417Asp) c.1309C>G (p.His437Asp) | |
| 12 | g.114674626G>T | CA386869315 | TBX3 | c.1249C>A (p.His417Asn) c.1309C>A (p.His437Asn) | |
| 12 | g.114674627G>A | CA482136643 | TBX3 | c.1248C>T (p.Arg416=) c.1308C>T (p.Arg436=) | dbSNP gnomAD v2 |
| 12 | g.114674627G>C | CA482136644 | TBX3 | c.1248C>G (p.Arg416=) c.1308C>G (p.Arg436=) | |
| 12 | g.114674627G= | CA2064766485 | TBX3 | c.1248C= (p.Arg416=) c.1308C= (p.Arg436=) | |
| 12 | g.114674627G>T | CA482136645 | TBX3 | c.1248C>A (p.Arg416=) c.1308C>A (p.Arg436=) | gnomAD v4 |
| 12 | g.114674628C>A | CA386869318 | TBX3 | c.1247G>T (p.Arg416Leu) c.1307G>T (p.Arg436Leu) | dbSNP gnomAD v4 COSMIC |
| 12 | g.114674628C>G | CA386869317 | TBX3 | c.1247G>C (p.Arg416Pro) c.1307G>C (p.Arg436Pro) | dbSNP |
| 12 | g.114674628C>T | CA386869316 | TBX3 | c.1247G>A (p.Arg416His) c.1307G>A (p.Arg436His) | dbSNP gnomAD v4 |
| 12 | g.114674629G>A | CA244143796 | TBX3 | c.1246C>T (p.Arg416Cys) c.1306C>T (p.Arg436Cys) | dbSNP gnomAD v4 |
| 12 | g.114674629G>C | CA386869319 | TBX3 | c.1246C>G (p.Arg416Gly) c.1306C>G (p.Arg436Gly) | |
| 12 | g.114674629G= | CA2064766487 | TBX3 | c.1246C= (p.Arg416=) c.1306C= (p.Arg436=) | |
| 12 | g.114674629G>T | CA386869320 | TBX3 | c.1246C>A (p.Arg416Ser) c.1306C>A (p.Arg436Ser) | gnomAD v4 |
| 12 | g.114674630T>A | CA482136652 | TBX3 | c.1245A>T (p.Ser415=) c.1305A>T (p.Ser435=) | |
| 12 | g.114674630T>C | CA482136654 | TBX3 | c.1245A>G (p.Ser415=) c.1305A>G (p.Ser435=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674630T>G | CA482136655 | TBX3 | c.1245A>C (p.Ser415=) c.1305A>C (p.Ser435=) | |
| 12 | g.114674630T= | CA2064766489 | TBX3 | c.1245A= (p.Ser415=) c.1305A= (p.Ser435=) | |
| 12 | g.114674631G>A | CA6809956 | TBX3 | c.1244C>T (p.Ser415Leu) c.1304C>T (p.Ser435Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674631G>C | CA386869321 | TBX3 | c.1244C>G (p.Ser415Ter) c.1304C>G (p.Ser435Ter) | |
| 12 | g.114674631G= | CA2064766492 | TBX3 | c.1244C= (p.Ser415=) c.1304C= (p.Ser435=) | |
| 12 | g.114674631G>T | CA386869322 | TBX3 | c.1244C>A (p.Ser415Ter) c.1304C>A (p.Ser435Ter) | gnomAD v4 |
| 12 | g.114674632A= | CA2064766494 | TBX3 | c.1243T= (p.Ser415=) c.1303T= (p.Ser435=) | |
| 12 | g.114674632A>C | CA386869323 | TBX3 | c.1243T>G (p.Ser415Ala) c.1303T>G (p.Ser435Ala) | |
| 12 | g.114674632A>G | CA386869325 | TBX3 | c.1243T>C (p.Ser415Pro) c.1303T>C (p.Ser435Pro) | gnomAD v4 |
| 12 | g.114674632A>T | CA386869324 | TBX3 | c.1243T>A (p.Ser415Thr) c.1303T>A (p.Ser435Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674633G>A | CA482136658 | TBX3 | c.1242C>T (p.Asp414=) c.1302C>T (p.Asp434=) | |
| 12 | g.114674633G>C | CA386869326 | TBX3 | c.1242C>G (p.Asp414Glu) c.1302C>G (p.Asp434Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674633G= | CA2064766495 | TBX3 | c.1242C= (p.Asp414=) c.1302C= (p.Asp434=) | |
| 12 | g.114674633G>T | CA386869327 | TBX3 | c.1242C>A (p.Asp414Glu) c.1302C>A (p.Asp434Glu) | gnomAD v4 |
| 12 | g.114674634T>A | CA386869328 | TBX3 | c.1241A>T (p.Asp414Val) c.1301A>T (p.Asp434Val) | dbSNP |
| 12 | g.114674634T>C | CA386869329 | TBX3 | c.1241A>G (p.Asp414Gly) c.1301A>G (p.Asp434Gly) | dbSNP |
| 12 | g.114674634T>G | CA386869330 | TBX3 | c.1241A>C (p.Asp414Ala) c.1301A>C (p.Asp434Ala) | |
| 12 | g.114674635C>A | CA386869331 | TBX3 | c.1240G>T (p.Asp414Tyr) c.1300G>T (p.Asp434Tyr) | gnomAD v4 |
| 12 | g.114674635C= | CA2064766496 | TBX3 | c.1240G= (p.Asp414=) c.1300G= (p.Asp434=) | |
| 12 | g.114674635C>G | CA386869332 | TBX3 | c.1240G>C (p.Asp414His) c.1300G>C (p.Asp434His) | dbSNP |
| 12 | g.114674635C>T | CA244143804 | TBX3 | c.1240G>A (p.Asp414Asn) c.1300G>A (p.Asp434Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674636G>A | CA6809957 | TBX3 | c.1239C>T (p.Pro413=) c.1299C>T (p.Pro433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674636G>C | CA482136664 | TBX3 | c.1239C>G (p.Pro413=) c.1299C>G (p.Pro433=) | |
| 12 | g.114674636G= | CA2064766497 | TBX3 | c.1239C= (p.Pro413=) c.1299C= (p.Pro433=) | |
| 12 | g.114674636G>T | CA482136666 | TBX3 | c.1239C>A (p.Pro413=) c.1299C>A (p.Pro433=) | gnomAD v4 |
| 12 | g.114674637G>A | CA386869333 | TBX3 | c.1238C>T (p.Pro413Leu) c.1298C>T (p.Pro433Leu) | dbSNP gnomAD v4 |
| 12 | g.114674637G>C | CA386869334 | TBX3 | c.1238C>G (p.Pro413Arg) c.1298C>G (p.Pro433Arg) | gnomAD v4 |
| 12 | g.114674637G= | CA2064766501 | TBX3 | c.1238C= (p.Pro413=) c.1298C= (p.Pro433=) | |
| 12 | g.114674637G>T | CA386869335 | TBX3 | c.1238C>A (p.Pro413His) c.1298C>A (p.Pro433His) | gnomAD v4 |
| 12 | g.114674638G>A | CA6809958 | TBX3 | c.1237C>T (p.Pro413Ser) c.1297C>T (p.Pro433Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674638G>C | CA386869336 | TBX3 | c.1237C>G (p.Pro413Ala) c.1297C>G (p.Pro433Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674638G= | CA2064766504 | TBX3 | c.1237C= (p.Pro413=) c.1297C= (p.Pro433=) | |
| 12 | g.114674638G>T | CA386869337 | TBX3 | c.1237C>A (p.Pro413Thr) c.1297C>A (p.Pro433Thr) | |
| 12 | g.114674639C>A | CA6809959 | TBX3 | c.1236G>T (p.Ser412=) c.1296G>T (p.Ser432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674639C= | CA2064766509 | TBX3 | c.1236G= (p.Ser412=) c.1296G= (p.Ser432=) | |
| 12 | g.114674639C>G | CA482136675 | TBX3 | c.1236G>C (p.Ser412=) c.1296G>C (p.Ser432=) | |
| 12 | g.114674639C>T | CA6809960 | TBX3 | c.1236G>A (p.Ser412=) c.1296G>A (p.Ser432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674640G>A | CA386869338 | TBX3 | c.1235C>T (p.Ser412Leu) c.1295C>T (p.Ser432Leu) | dbSNP gnomAD v4 COSMIC |
| 12 | g.114674640G>C | CA244143836 | TBX3 | c.1235C>G (p.Ser412Trp) c.1295C>G (p.Ser432Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674640G= | CA2064766513 | TBX3 | c.1235C= (p.Ser412=) c.1295C= (p.Ser432=) | |
| 12 | g.114674640G>T | CA386869339 | TBX3 | c.1235C>A (p.Ser412Ter) c.1295C>A (p.Ser432Ter) | gnomAD v4 |
| 12 | g.114674640_114674646delinsGACGCTT | CA2064766512 | TBX3 | c.1229_1235delinsAAGCGTC (p.Lys410=) c.1289_1295delinsAAGCGTC (p.Lys430=) | |
| 12 | g.114674641A>C | CA386869340 | TBX3 | c.1234T>G (p.Ser412Ala) c.1294T>G (p.Ser432Ala) | |
| 12 | g.114674641A>G | CA386869341 | TBX3 | c.1234T>C (p.Ser412Pro) c.1294T>C (p.Ser432Pro) | |
| 12 | g.114674641A>T | CA386869342 | TBX3 | c.1234T>A (p.Ser412Thr) c.1294T>A (p.Ser432Thr) | |
| 12 | g.114674641_114674646del | CA244143841 | TBX3 | c.1229_1234del (p.Lys410_Ser412delinsThr) c.1289_1294del (p.Lys430_Ser432delinsThr) | dbSNP |
| 12 | g.114674642C>A | CA482136685 | TBX3 | c.1233G>T (p.Ala411=) c.1293G>T (p.Ala431=) | |
| 12 | g.114674642C= | CA2064766518 | TBX3 | c.1233G= (p.Ala411=) c.1293G= (p.Ala431=) | |
| 12 | g.114674642C>G | CA482136687 | TBX3 | c.1233G>C (p.Ala411=) c.1293G>C (p.Ala431=) | dbSNP |
| 12 | g.114674642C>T | CA6809961 | TBX3 | c.1233G>A (p.Ala411=) c.1293G>A (p.Ala431=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674643G>A | CA386869343 | TBX3 | c.1232C>T (p.Ala411Val) c.1292C>T (p.Ala431Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674643G>C | CA386869344 | TBX3 | c.1232C>G (p.Ala411Gly) c.1292C>G (p.Ala431Gly) | |
| 12 | g.114674643G= | CA2064766519 | TBX3 | c.1232C= (p.Ala411=) c.1292C= (p.Ala431=) | |
| 12 | g.114674643G>T | CA386869345 | TBX3 | c.1232C>A (p.Ala411Glu) c.1292C>A (p.Ala431Glu) | gnomAD v4 |
| 12 | g.114674644C>A | CA386869346 | TBX3 | c.1231G>T (p.Ala411Ser) c.1291G>T (p.Ala431Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674644C= | CA2064766521 | TBX3 | c.1231G= (p.Ala411=) c.1291G= (p.Ala431=) | |
| 12 | g.114674644C>G | CA386869347 | TBX3 | c.1231G>C (p.Ala411Pro) c.1291G>C (p.Ala431Pro) | |
| 12 | g.114674644C>T | CA386869348 | TBX3 | c.1231G>A (p.Ala411Thr) c.1291G>A (p.Ala431Thr) | |
| 12 | g.114674645T>A | CA386869349 | TBX3 | c.1230A>T (p.Lys410Asn) c.1290A>T (p.Lys430Asn) | |
| 12 | g.114674645T>C | CA482136694 | TBX3 | c.1230A>G (p.Lys410=) c.1290A>G (p.Lys430=) | |
| 12 | g.114674645T>G | CA386869350 | TBX3 | c.1230A>C (p.Lys410Asn) c.1290A>C (p.Lys430Asn) | |
| 12 | g.114674646T>A | CA386869351 | TBX3 | c.1229A>T (p.Lys410Ile) c.1289A>T (p.Lys430Ile) | |
| 12 | g.114674646T>C | CA386869352 | TBX3 | c.1229A>G (p.Lys410Arg) c.1289A>G (p.Lys430Arg) | |
| 12 | g.114674646T>G | CA386869353 | TBX3 | c.1229A>C (p.Lys410Thr) c.1289A>C (p.Lys430Thr) | |
| 12 | g.114674647T>A | CA386869354 | TBX3 | c.1228A>T (p.Lys410Ter) c.1288A>T (p.Lys430Ter) | |
| 12 | g.114674647T>C | CA386869355 | TBX3 | c.1228A>G (p.Lys410Glu) c.1288A>G (p.Lys430Glu) | |
| 12 | g.114674647T>G | CA386869356 | TBX3 | c.1228A>C (p.Lys410Gln) c.1288A>C (p.Lys430Gln) | |
| 12 | g.114674648G>A | CA6809962 | TBX3 | c.1227C>T (p.Asp409=) c.1287C>T (p.Asp429=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674648G>C | CA244143860 | TBX3 | c.1227C>G (p.Asp409Glu) c.1287C>G (p.Asp429Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674648G= | CA2064766525 | TBX3 | c.1227C= (p.Asp409=) c.1287C= (p.Asp429=) | |
| 12 | g.114674648G>T | CA386869357 | TBX3 | c.1227C>A (p.Asp409Glu) c.1287C>A (p.Asp429Glu) | |
| 12 | g.114674649T>A | CA386869358 | TBX3 | c.1226A>T (p.Asp409Val) c.1286A>T (p.Asp429Val) | |
| 12 | g.114674649T>C | CA386869359 | TBX3 | c.1226A>G (p.Asp409Gly) c.1286A>G (p.Asp429Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674649T>G | CA386869360 | TBX3 | c.1226A>C (p.Asp409Ala) c.1286A>C (p.Asp429Ala) | |
| 12 | g.114674649T= | CA2064766530 | TBX3 | c.1226A= (p.Asp409=) c.1286A= (p.Asp429=) | |
| 12 | g.114674650C>A | CA386869361 | TBX3 | c.1225G>T (p.Asp409Tyr) c.1285G>T (p.Asp429Tyr) | gnomAD v4 |
| 12 | g.114674650C>G | CA386869363 | TBX3 | c.1225G>C (p.Asp409His) c.1285G>C (p.Asp429His) | COSMIC |
| 12 | g.114674650C>T | CA386869362 | TBX3 | c.1225G>A (p.Asp409Asn) c.1285G>A (p.Asp429Asn) | |
| 12 | g.114674651C>A | CA482136708 | TBX3 | c.1224G>T (p.Leu408=) c.1284G>T (p.Leu428=) | dbSNP |
| 12 | g.114674651C>G | CA482136714 | TBX3 | c.1224G>C (p.Leu408=) c.1284G>C (p.Leu428=) | |
| 12 | g.114674651C>T | CA482136710 | TBX3 | c.1224G>A (p.Leu408=) c.1284G>A (p.Leu428=) | dbSNP gnomAD v4 |
| 12 | g.114674652A>C | CA386869364 | TBX3 | c.1223T>G (p.Leu408Arg) c.1283T>G (p.Leu428Arg) | |
| 12 | g.114674652A>G | CA386869366 | TBX3 | c.1223T>C (p.Leu408Pro) c.1283T>C (p.Leu428Pro) | dbSNP gnomAD v4 |
| 12 | g.114674652A>T | CA386869365 | TBX3 | c.1223T>A (p.Leu408Gln) c.1283T>A (p.Leu428Gln) | |
| 12 | g.114674653G>A | CA482136720 | TBX3 | c.1222C>T (p.Leu408=) c.1282C>T (p.Leu428=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674653G>C | CA386869367 | TBX3 | c.1222C>G (p.Leu408Val) c.1282C>G (p.Leu428Val) | dbSNP |
| 12 | g.114674653G= | CA2064766534 | TBX3 | c.1222C= (p.Leu408=) c.1282C= (p.Leu428=) | |
| 12 | g.114674653G>T | CA386869368 | TBX3 | c.1222C>A (p.Leu408Met) c.1282C>A (p.Leu428Met) | gnomAD v4 |
| 12 | g.114674654C>A | CA6809963 | TBX3 | c.1221G>T (p.Arg407=) c.1281G>T (p.Arg427=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674654C= | CA2064766536 | TBX3 | c.1221G= (p.Arg407=) c.1281G= (p.Arg427=) | |
| 12 | g.114674654C>G | CA482136725 | TBX3 | c.1221G>C (p.Arg407=) c.1281G>C (p.Arg427=) | |
| 12 | g.114674654C>T | CA482136727 | TBX3 | c.1221G>A (p.Arg407=) c.1281G>A (p.Arg427=) | dbSNP gnomAD v4 |
| 12 | g.114674655C>A | CA386869369 | TBX3 | c.1220G>T (p.Arg407Leu) c.1280G>T (p.Arg427Leu) | |
| 12 | g.114674655C= | CA2064766538 | TBX3 | c.1220G= (p.Arg407=) c.1280G= (p.Arg427=) | |
| 12 | g.114674655C>G | CA386869370 | TBX3 | c.1220G>C (p.Arg407Pro) c.1280G>C (p.Arg427Pro) | |
| 12 | g.114674655C>T | CA244143870 | TBX3 | c.1220G>A (p.Arg407Gln) c.1280G>A (p.Arg427Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674656G>A | CA6809965 | TBX3 | c.1219C>T (p.Arg407Trp) c.1279C>T (p.Arg427Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674656G>C | CA386869371 | TBX3 | c.1219C>G (p.Arg407Gly) c.1279C>G (p.Arg427Gly) | |
| 12 | g.114674656G= | CA2064766546 | TBX3 | c.1219C= (p.Arg407=) c.1279C= (p.Arg427=) | |
| 12 | g.114674656G>T | CA6809964 | TBX3 | c.1219C>A (p.Arg407=) c.1279C>A (p.Arg427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674657C>A | CA482136732 | TBX3 | c.1218G>T (p.Gly406=) c.1278G>T (p.Gly426=) | |
| 12 | g.114674657C>G | CA482136733 | TBX3 | c.1218G>C (p.Gly406=) c.1278G>C (p.Gly426=) | |
| 12 | g.114674657C>T | CA482136734 | TBX3 | c.1218G>A (p.Gly406=) c.1278G>A (p.Gly426=) | gnomAD v4 |
| 12 | g.114674658C>A | CA386869372 | TBX3 | c.1217G>T (p.Gly406Val) c.1277G>T (p.Gly426Val) | |
| 12 | g.114674658C>G | CA386869373 | TBX3 | c.1217G>C (p.Gly406Ala) c.1277G>C (p.Gly426Ala) | |
| 12 | g.114674658C>T | CA386869374 | TBX3 | c.1217G>A (p.Gly406Glu) c.1277G>A (p.Gly426Glu) | |
| 12 | g.114674659C>A | CA386869376 | TBX3 | c.1216G>T (p.Gly406Trp) c.1276G>T (p.Gly426Trp) | dbSNP gnomAD v4 |
| 12 | g.114674659C= | CA2064766555 | TBX3 | c.1216G= (p.Gly406=) c.1276G= (p.Gly426=) | |
| 12 | g.114674659C>G | CA386869375 | TBX3 | c.1216G>C (p.Gly406Arg) c.1276G>C (p.Gly426Arg) | |
| 12 | g.114674659C>T | CA6809966 | TBX3 | c.1216G>A (p.Gly406Arg) c.1276G>A (p.Gly426Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674660G>A | CA482136745 | TBX3 | c.1215C>T (p.Ser405=) c.1275C>T (p.Ser425=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674660G>C | CA6809967 | TBX3 | c.1215C>G (p.Ser405Arg) c.1275C>G (p.Ser425Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674660G= | CA2064766561 | TBX3 | c.1215C= (p.Ser405=) c.1275C= (p.Ser425=) | |
| 12 | g.114674660G>T | CA386869377 | TBX3 | c.1215C>A (p.Ser405Arg) c.1275C>A (p.Ser425Arg) | gnomAD v4 |
| 12 | g.114674661C>A | CA386869378 | TBX3 | c.1214G>T (p.Ser405Ile) c.1274G>T (p.Ser425Ile) | dbSNP |
| 12 | g.114674661C>G | CA386869379 | TBX3 | c.1214G>C (p.Ser405Thr) c.1274G>C (p.Ser425Thr) | |
| 12 | g.114674661C>T | CA386869380 | TBX3 | c.1214G>A (p.Ser405Asn) c.1274G>A (p.Ser425Asn) | dbSNP gnomAD v4 |
| 12 | g.114674662T>A | CA386869381 | TBX3 | c.1213A>T (p.Ser405Cys) c.1273A>T (p.Ser425Cys) | |
| 12 | g.114674662T>C | CA386869382 | TBX3 | c.1213A>G (p.Ser405Gly) c.1273A>G (p.Ser425Gly) | gnomAD v4 COSMIC |
| 12 | g.114674662T>G | CA386869383 | TBX3 | c.1213A>C (p.Ser405Arg) c.1273A>C (p.Ser425Arg) | |
| 12 | g.114674663G>A | CA482136751 | TBX3 | c.1212C>T (p.Asp404=) c.1272C>T (p.Asp424=) | dbSNP |
| 12 | g.114674663G>C | CA386869384 | TBX3 | c.1212C>G (p.Asp404Glu) c.1272C>G (p.Asp424Glu) | |
| 12 | g.114674663G>T | CA386869385 | TBX3 | c.1212C>A (p.Asp404Glu) c.1272C>A (p.Asp424Glu) | gnomAD v4 |
| 12 | g.114674664T>A | CA386869388 | TBX3 | c.1211A>T (p.Asp404Val) c.1271A>T (p.Asp424Val) | |
| 12 | g.114674664T>C | CA386869387 | TBX3 | c.1211A>G (p.Asp404Gly) c.1271A>G (p.Asp424Gly) | |
| 12 | g.114674664T>G | CA386869386 | TBX3 | c.1211A>C (p.Asp404Ala) c.1271A>C (p.Asp424Ala) | |
| 12 | g.114674666_114674677dup | CA2621130030 | TBX3 | c.1200_1211dup (p.Arg403_Asp404insGluArgProArg) c.1260_1271dup (p.Arg423_Asp424insGluArgProArg) | gnomAD v4 |
| 12 | g.114674665C>A | CA386869389 | TBX3 | c.1210G>T (p.Asp404Tyr) c.1270G>T (p.Asp424Tyr) | dbSNP gnomAD v4 |
| 12 | g.114674665C= | CA2064766565 | TBX3 | c.1210G= (p.Asp404=) c.1270G= (p.Asp424=) | |
| 12 | g.114674665C>G | CA386869390 | TBX3 | c.1210G>C (p.Asp404His) c.1270G>C (p.Asp424His) | |
| 12 | g.114674665C>T | CA6809968 | TBX3 | c.1210G>A (p.Asp404Asn) c.1270G>A (p.Asp424Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674666C>A | CA482136761 | TBX3 | c.1209G>T (p.Arg403=) c.1269G>T (p.Arg423=) | |
| 12 | g.114674666C>G | CA482136763 | TBX3 | c.1209G>C (p.Arg403=) c.1269G>C (p.Arg423=) | |
| 12 | g.114674666C>T | CA482136764 | TBX3 | c.1209G>A (p.Arg403=) c.1269G>A (p.Arg423=) | dbSNP gnomAD v4 |
| 12 | g.114674667C>A | CA386869391 | TBX3 | c.1208G>T (p.Arg403Leu) c.1268G>T (p.Arg423Leu) | gnomAD v4 |
| 12 | g.114674667C= | CA2064766567 | TBX3 | c.1208G= (p.Arg403=) c.1268G= (p.Arg423=) | |
| 12 | g.114674667C>G | CA386869392 | TBX3 | c.1208G>C (p.Arg403Pro) c.1268G>C (p.Arg423Pro) | |
| 12 | g.114674667C>T | CA6809969 | TBX3 | c.1208G>A (p.Arg403Gln) c.1268G>A (p.Arg423Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674668G>A | CA386869394 | TBX3 | c.1207C>T (p.Arg403Trp) c.1267C>T (p.Arg423Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674668G>C | CA386869393 | TBX3 | c.1207C>G (p.Arg403Gly) c.1267C>G (p.Arg423Gly) | dbSNP gnomAD v4 |
| 12 | g.114674668G= | CA2064766576 | TBX3 | c.1207C= (p.Arg403=) c.1267C= (p.Arg423=) | |
| 12 | g.114674668G>T | CA482136767 | TBX3 | c.1207C>A (p.Arg403=) c.1267C>A (p.Arg423=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674671del | CA2621130032 | TBX3 | c.1207del (p.Arg403GlyfsTer?) c.1267del (p.Arg423GlyfsTer?) | gnomAD v4 |
| 12 | g.114674669G>A | CA482136769 | TBX3 | c.1206C>T (p.Pro402=) c.1266C>T (p.Pro422=) | |
| 12 | g.114674669G>C | CA482136771 | TBX3 | c.1206C>G (p.Pro402=) c.1266C>G (p.Pro422=) | |
| 12 | g.114674669G>T | CA482136772 | TBX3 | c.1206C>A (p.Pro402=) c.1266C>A (p.Pro422=) | dbSNP gnomAD v4 |
| 12 | g.114674670G>A | CA386869395 | TBX3 | c.1205C>T (p.Pro402Leu) c.1265C>T (p.Pro422Leu) | |
| 12 | g.114674670G>C | CA386869396 | TBX3 | c.1205C>G (p.Pro402Arg) c.1265C>G (p.Pro422Arg) | |
| 12 | g.114674670G>T | CA386869397 | TBX3 | c.1205C>A (p.Pro402His) c.1265C>A (p.Pro422His) | gnomAD v4 |
| 12 | g.114674671G>A | CA6809970 | TBX3 | c.1204C>T (p.Pro402Ser) c.1264C>T (p.Pro422Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674671G>C | CA386869398 | TBX3 | c.1204C>G (p.Pro402Ala) c.1264C>G (p.Pro422Ala) | |
| 12 | g.114674671G= | CA2064766582 | TBX3 | c.1204C= (p.Pro402=) c.1264C= (p.Pro422=) | |
| 12 | g.114674671G>T | CA386869399 | TBX3 | c.1204C>A (p.Pro402Thr) c.1264C>A (p.Pro422Thr) | gnomAD v4 |
| 12 | g.114674672C>A | CA482136146 | TBX3 | c.1203G>T (p.Arg401=) c.1263G>T (p.Arg421=) | dbSNP gnomAD v4 |
| 12 | g.114674672C>G | CA482136147 | TBX3 | c.1203G>C (p.Arg401=) c.1263G>C (p.Arg421=) | |
| 12 | g.114674672C>T | CA482136148 | TBX3 | c.1203G>A (p.Arg401=) c.1263G>A (p.Arg421=) | dbSNP gnomAD v4 |
| 12 | g.114674673C>A | CA386869400 | TBX3 | c.1202G>T (p.Arg401Leu) c.1262G>T (p.Arg421Leu) | |
| 12 | g.114674673C= | CA2064766584 | TBX3 | c.1202G= (p.Arg401=) c.1262G= (p.Arg421=) | |
| 12 | g.114674673C>G | CA6809971 | TBX3 | c.1202G>C (p.Arg401Pro) c.1262G>C (p.Arg421Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674673C>T | CA386869401 | TBX3 | c.1202G>A (p.Arg401Gln) c.1262G>A (p.Arg421Gln) | dbSNP gnomAD v4 |
| 12 | g.114674674G>A | CA244143901 | TBX3 | c.1201C>T (p.Arg401Trp) c.1261C>T (p.Arg421Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674674G>C | CA386869402 | TBX3 | c.1201C>G (p.Arg401Gly) c.1261C>G (p.Arg421Gly) | |
| 12 | g.114674674G= | CA2064766587 | TBX3 | c.1201C= (p.Arg401=) c.1261C= (p.Arg421=) | |
| 12 | g.114674674G>T | CA482136152 | TBX3 | c.1201C>A (p.Arg401=) c.1261C>A (p.Arg421=) | gnomAD v4 |
| 12 | g.114674675C>A | CA386869403 | TBX3 | c.1200G>T (p.Glu400Asp) c.1260G>T (p.Glu420Asp) | gnomAD v4 |
| 12 | g.114674675C= | CA2064766589 | TBX3 | c.1200G= (p.Glu400=) c.1260G= (p.Glu420=) | |
| 12 | g.114674675C>G | CA6809972 | TBX3 | c.1200G>C (p.Glu400Asp) c.1260G>C (p.Glu420Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674675C>T | CA482136155 | TBX3 | c.1200G>A (p.Glu400=) c.1260G>A (p.Glu420=) | dbSNP gnomAD v2 |
| 12 | g.114674676T>A | CA386869404 | TBX3 | c.1199A>T (p.Glu400Val) c.1259A>T (p.Glu420Val) | dbSNP gnomAD v4 |
| 12 | g.114674676T>C | CA386869405 | TBX3 | c.1199A>G (p.Glu400Gly) c.1259A>G (p.Glu420Gly) | |
| 12 | g.114674676T>G | CA386869406 | TBX3 | c.1199A>C (p.Glu400Ala) c.1259A>C (p.Glu420Ala) | gnomAD v4 |
| 12 | g.114674677C>A | CA386869407 | TBX3 | c.1198G>T (p.Glu400Ter) c.1258G>T (p.Glu420Ter) | COSMIC |
| 12 | g.114674677C>G | CA386869408 | TBX3 | c.1198G>C (p.Glu400Gln) c.1258G>C (p.Glu420Gln) | gnomAD v4 |
| 12 | g.114674677C>T | CA386869409 | TBX3 | c.1198G>A (p.Glu400Lys) c.1258G>A (p.Glu420Lys) |