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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.100883428G>A | CA390996345 | RTL1 | c.1361C>T (p.Pro454Leu) | dbSNP gnomAD v4 |
| 14 | g.100883428G>C | CA390996346 | RTL1 | c.1361C>G (p.Pro454Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883428G= | CA2159075119 | RTL1 | c.1361C= (p.Pro454=) | |
| 14 | g.100883428G>T | CA390996347 | RTL1 | c.1361C>A (p.Pro454Gln) | |
| 14 | g.100883429dup | CA266905759 | RTL1 | c.1361dup (p.Tyr455ValfsTer?) | dbSNP |
| 14 | g.100883429G>A | CA390996348 | RTL1 | c.1360C>T (p.Pro454Ser) | |
| 14 | g.100883429G>C | CA390996349 | RTL1 | c.1360C>G (p.Pro454Ala) | |
| 14 | g.100883429G>T | CA390996350 | RTL1 | c.1360C>A (p.Pro454Thr) | |
| 14 | g.100883430C>A | CA390996351 | RTL1 | c.1359G>T (p.Lys453Asn) | |
| 14 | g.100883430C= | CA2159075122 | RTL1 | c.1359G= (p.Lys453=) | |
| 14 | g.100883430C>G | CA390996352 | RTL1 | c.1359G>C (p.Lys453Asn) | |
| 14 | g.100883430C>T | CA488181561 | RTL1 | c.1359G>A (p.Lys453=) | dbSNP |
| 14 | g.100883431T>A | CA390996353 | RTL1 | c.1358A>T (p.Lys453Met) | |
| 14 | g.100883431T>C | CA390996354 | RTL1 | c.1358A>G (p.Lys453Arg) | |
| 14 | g.100883431T>G | CA390996355 | RTL1 | c.1358A>C (p.Lys453Thr) | |
| 14 | g.100883432T>A | CA390996357 | RTL1 | c.1357A>T (p.Lys453Ter) | dbSNP gnomAD v4 |
| 14 | g.100883432T>C | CA390996358 | RTL1 | c.1357A>G (p.Lys453Glu) | |
| 14 | g.100883432T>G | CA390996356 | RTL1 | c.1357A>C (p.Lys453Gln) | |
| 14 | g.100883432T= | CA2159075124 | RTL1 | c.1357A= (p.Lys453=) | |
| 14 | g.100883433C>A | CA390996359 | RTL1 | c.1356G>T (p.Glu452Asp) | |
| 14 | g.100883433C= | CA2159075125 | RTL1 | c.1356G= (p.Glu452=) | |
| 14 | g.100883433C>G | CA390996360 | RTL1 | c.1356G>C (p.Glu452Asp) | |
| 14 | g.100883433C>T | CA488181574 | RTL1 | c.1356G>A (p.Glu452=) | dbSNP gnomAD v2 |
| 14 | g.100883434T>A | CA390996361 | RTL1 | c.1355A>T (p.Glu452Val) | |
| 14 | g.100883434T>C | CA390996362 | RTL1 | c.1355A>G (p.Glu452Gly) | |
| 14 | g.100883434T>G | CA390996363 | RTL1 | c.1355A>C (p.Glu452Ala) | |
| 14 | g.100883435C>A | CA390996364 | RTL1 | c.1354G>T (p.Glu452Ter) | gnomAD v4 |
| 14 | g.100883435C= | CA2159075126 | RTL1 | c.1354G= (p.Glu452=) | |
| 14 | g.100883435C>G | CA390996365 | RTL1 | c.1354G>C (p.Glu452Gln) | |
| 14 | g.100883435C>T | CA266905762 | RTL1 | c.1354G>A (p.Glu452Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883436del | CA2626553882 | RTL1 | c.1353del (p.Tyr451Ter) | gnomAD v4 |
| 14 | g.100883436G>A | CA488181578 | RTL1 | c.1353C>T (p.Tyr451=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883436G>C | CA266905772 | RTL1 | c.1353C>G (p.Tyr451Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883436G= | CA2159075127 | RTL1 | c.1353C= (p.Tyr451=) | |
| 14 | g.100883436G>T | CA390996366 | RTL1 | c.1353C>A (p.Tyr451Ter) | |
| 14 | g.100883436dup | CA2626553881 | RTL1 | c.1353dup (p.Glu452ArgfsTer?) | gnomAD v4 |
| 14 | g.100883437T>A | CA390996367 | RTL1 | c.1352A>T (p.Tyr451Phe) | |
| 14 | g.100883437T>C | CA390996368 | RTL1 | c.1352A>G (p.Tyr451Cys) | dbSNP gnomAD v4 |
| 14 | g.100883437T>G | CA390996369 | RTL1 | c.1352A>C (p.Tyr451Ser) | |
| 14 | g.100883437T= | CA2159075130 | RTL1 | c.1352A= (p.Tyr451=) | |
| 14 | g.100883438A= | CA2159075131 | RTL1 | c.1351T= (p.Tyr451=) | |
| 14 | g.100883438A>C | CA390996370 | RTL1 | c.1351T>G (p.Tyr451Asp) | |
| 14 | g.100883438A>G | CA390996372 | RTL1 | c.1351T>C (p.Tyr451His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883438A>T | CA390996371 | RTL1 | c.1351T>A (p.Tyr451Asn) | |
| 14 | g.100883439G>A | CA488181584 | RTL1 | c.1350C>T (p.Leu450=) | |
| 14 | g.100883439G>C | CA488181585 | RTL1 | c.1350C>G (p.Leu450=) | |
| 14 | g.100883439G>T | CA488181586 | RTL1 | c.1350C>A (p.Leu450=) | |
| 14 | g.100883440A>C | CA390996373 | RTL1 | c.1349T>G (p.Leu450Arg) | |
| 14 | g.100883440A>G | CA390996374 | RTL1 | c.1349T>C (p.Leu450Pro) | |
| 14 | g.100883440A>T | CA390996375 | RTL1 | c.1349T>A (p.Leu450His) | |
| 14 | g.100883441G>A | CA390996376 | RTL1 | c.1348C>T (p.Leu450Phe) | |
| 14 | g.100883441G>C | CA390996377 | RTL1 | c.1348C>G (p.Leu450Val) | |
| 14 | g.100883441G>T | CA390996378 | RTL1 | c.1348C>A (p.Leu450Ile) | |
| 14 | g.100883445_100883456dup | CA2575625512 | RTL1 | c.1337_1348dup (p.Glu449_Leu450insHisTyrValGlu) | |
| 14 | g.100883442C>A | CA390996379 | RTL1 | c.1347G>T (p.Glu449Asp) | |
| 14 | g.100883442C= | CA2159075133 | RTL1 | c.1347G= (p.Glu449=) | |
| 14 | g.100883442C>G | CA390996380 | RTL1 | c.1347G>C (p.Glu449Asp) | |
| 14 | g.100883442C>T | CA488181589 | RTL1 | c.1347G>A (p.Glu449=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883443T>A | CA390996381 | RTL1 | c.1346A>T (p.Glu449Val) | |
| 14 | g.100883443T>C | CA390996382 | RTL1 | c.1346A>G (p.Glu449Gly) | |
| 14 | g.100883443T>G | CA390996383 | RTL1 | c.1346A>C (p.Glu449Ala) | |
| 14 | g.100883444C>A | CA390996385 | RTL1 | c.1345G>T (p.Glu449Ter) | |
| 14 | g.100883444C= | CA2159075134 | RTL1 | c.1345G= (p.Glu449=) | |
| 14 | g.100883444C>G | CA390996386 | RTL1 | c.1345G>C (p.Glu449Gln) | |
| 14 | g.100883444C>T | CA390996384 | RTL1 | c.1345G>A (p.Glu449Lys) | dbSNP gnomAD v4 |
| 14 | g.100883445G>A | CA488181607 | RTL1 | c.1344C>T (p.Val448=) | |
| 14 | g.100883445G>C | CA488181610 | RTL1 | c.1344C>G (p.Val448=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883445G= | CA2159075135 | RTL1 | c.1344C= (p.Val448=) | |
| 14 | g.100883445G>T | CA488181611 | RTL1 | c.1344C>A (p.Val448=) | dbSNP gnomAD v4 |
| 14 | g.100883446A>C | CA390996389 | RTL1 | c.1343T>G (p.Val448Gly) | |
| 14 | g.100883446A>G | CA390996387 | RTL1 | c.1343T>C (p.Val448Ala) | |
| 14 | g.100883446A>T | CA390996388 | RTL1 | c.1343T>A (p.Val448Asp) | |
| 14 | g.100883447C>A | CA390996390 | RTL1 | c.1342G>T (p.Val448Phe) | |
| 14 | g.100883447C= | CA2159075136 | RTL1 | c.1342G= (p.Val448=) | |
| 14 | g.100883447C>G | CA266905783 | RTL1 | c.1342G>C (p.Val448Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883447C>T | CA390996391 | RTL1 | c.1342G>A (p.Val448Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883448G>A | CA488181615 | RTL1 | c.1341C>T (p.Tyr447=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883448G>C | CA390996392 | RTL1 | c.1341C>G (p.Tyr447Ter) | gnomAD v4 |
| 14 | g.100883448G= | CA2159075137 | RTL1 | c.1341C= (p.Tyr447=) | |
| 14 | g.100883448G>T | CA390996393 | RTL1 | c.1341C>A (p.Tyr447Ter) | |
| 14 | g.100883448_100883449dup | CA703097607 | RTL1 | c.1340_1341dup (p.Val448ThrfsTer20) | dbSNP |
| 14 | g.100883449T>A | CA390996394 | RTL1 | c.1340A>T (p.Tyr447Phe) | |
| 14 | g.100883449T>C | CA390996395 | RTL1 | c.1340A>G (p.Tyr447Cys) | |
| 14 | g.100883449T>G | CA390996396 | RTL1 | c.1340A>C (p.Tyr447Ser) | |
| 14 | g.100883450A>C | CA390996397 | RTL1 | c.1339T>G (p.Tyr447Asp) | gnomAD v4 |
| 14 | g.100883450A>G | CA390996398 | RTL1 | c.1339T>C (p.Tyr447His) | |
| 14 | g.100883450A>T | CA390996399 | RTL1 | c.1339T>A (p.Tyr447Asn) | |
| 14 | g.100883451G>A | CA488181624 | RTL1 | c.1338C>T (p.His446=) | |
| 14 | g.100883451G>C | CA390996401 | RTL1 | c.1338C>G (p.His446Gln) | |
| 14 | g.100883451G>T | CA390996400 | RTL1 | c.1338C>A (p.His446Gln) | |
| 14 | g.100883452T>A | CA390996402 | RTL1 | c.1337A>T (p.His446Leu) | |
| 14 | g.100883452T>C | CA390996403 | RTL1 | c.1337A>G (p.His446Arg) | |
| 14 | g.100883452T>G | CA390996404 | RTL1 | c.1337A>C (p.His446Pro) | |
| 14 | g.100883453G>A | CA390996405 | RTL1 | c.1336C>T (p.His446Tyr) | |
| 14 | g.100883453G>C | CA390996406 | RTL1 | c.1336C>G (p.His446Asp) | |
| 14 | g.100883453G>T | CA390996407 | RTL1 | c.1336C>A (p.His446Asn) | |
| 14 | g.100883454C>A | CA390996408 | RTL1 | c.1335G>T (p.Glu445Asp) | |
| 14 | g.100883454C>G | CA390996409 | RTL1 | c.1335G>C (p.Glu445Asp) | |
| 14 | g.100883454C>T | CA488181632 | RTL1 | c.1335G>A (p.Glu445=) | gnomAD v4 COSMIC |
| 14 | g.100883455T>A | CA390996410 | RTL1 | c.1334A>T (p.Glu445Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883455T>C | CA7347325 | RTL1 | c.1334A>G (p.Glu445Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883455T>G | CA390996411 | RTL1 | c.1334A>C (p.Glu445Ala) | |
| 14 | g.100883455T= | CA2159075140 | RTL1 | c.1334A= (p.Glu445=) | |
| 14 | g.100883456C>A | CA390996412 | RTL1 | c.1333G>T (p.Glu445Ter) | |
| 14 | g.100883456C= | CA2159075142 | RTL1 | c.1333G= (p.Glu445=) | |
| 14 | g.100883456C>G | CA390996413 | RTL1 | c.1333G>C (p.Glu445Gln) | |
| 14 | g.100883456C>T | CA390996414 | RTL1 | c.1333G>A (p.Glu445Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883457T>A | CA390996415 | RTL1 | c.1332A>T (p.Gln444His) | |
| 14 | g.100883457T>C | CA488181639 | RTL1 | c.1332A>G (p.Gln444=) | |
| 14 | g.100883457T>G | CA390996416 | RTL1 | c.1332A>C (p.Gln444His) | |
| 14 | g.100883458T>A | CA390996417 | RTL1 | c.1331A>T (p.Gln444Leu) | |
| 14 | g.100883458T>C | CA390996419 | RTL1 | c.1331A>G (p.Gln444Arg) | gnomAD v4 |
| 14 | g.100883458T>G | CA390996418 | RTL1 | c.1331A>C (p.Gln444Pro) | |
| 14 | g.100883459G>A | CA390996420 | RTL1 | c.1330C>T (p.Gln444Ter) | |
| 14 | g.100883459G>C | CA390996421 | RTL1 | c.1330C>G (p.Gln444Glu) | dbSNP gnomAD v4 |
| 14 | g.100883459G= | CA2159075143 | RTL1 | c.1330C= (p.Gln444=) | |
| 14 | g.100883459G>T | CA390996422 | RTL1 | c.1330C>A (p.Gln444Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883460G>A | CA488181659 | RTL1 | c.1329C>T (p.Ala443=) | |
| 14 | g.100883460G>C | CA488181656 | RTL1 | c.1329C>G (p.Ala443=) | |
| 14 | g.100883460G>T | CA488181655 | RTL1 | c.1329C>A (p.Ala443=) | |
| 14 | g.100883461G>A | CA390996423 | RTL1 | c.1328C>T (p.Ala443Val) | |
| 14 | g.100883461G>C | CA390996424 | RTL1 | c.1328C>G (p.Ala443Gly) | |
| 14 | g.100883461G>T | CA390996425 | RTL1 | c.1328C>A (p.Ala443Asp) | |
| 14 | g.100883462C>A | CA390996426 | RTL1 | c.1327G>T (p.Ala443Ser) | dbSNP |
| 14 | g.100883462C= | CA2159075144 | RTL1 | c.1327G= (p.Ala443=) | |
| 14 | g.100883462C>G | CA390996427 | RTL1 | c.1327G>C (p.Ala443Pro) | gnomAD v4 |
| 14 | g.100883462C>T | CA390996428 | RTL1 | c.1327G>A (p.Ala443Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883463G>A | CA488181669 | RTL1 | c.1326C>T (p.Phe442=) | dbSNP gnomAD v4 COSMIC |
| 14 | g.100883463G>C | CA390996429 | RTL1 | c.1326C>G (p.Phe442Leu) | |
| 14 | g.100883463G= | CA2159075145 | RTL1 | c.1326C= (p.Phe442=) | |
| 14 | g.100883463G>T | CA390996430 | RTL1 | c.1326C>A (p.Phe442Leu) | |
| 14 | g.100883464A>C | CA390996433 | RTL1 | c.1325T>G (p.Phe442Cys) | |
| 14 | g.100883464A>G | CA390996432 | RTL1 | c.1325T>C (p.Phe442Ser) | |
| 14 | g.100883464A>T | CA390996431 | RTL1 | c.1325T>A (p.Phe442Tyr) | |
| 14 | g.100883465A= | CA2159075146 | RTL1 | c.1324T= (p.Phe442=) | |
| 14 | g.100883465A>C | CA390996434 | RTL1 | c.1324T>G (p.Phe442Val) | |
| 14 | g.100883465A>G | CA7347326 | RTL1 | c.1324T>C (p.Phe442Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883465A>T | CA390996435 | RTL1 | c.1324T>A (p.Phe442Ile) | gnomAD v4 |
| 14 | g.100883466C>A | CA390996436 | RTL1 | c.1323G>T (p.Lys441Asn) | |
| 14 | g.100883466C= | CA2159075147 | RTL1 | c.1323G= (p.Lys441=) | |
| 14 | g.100883466C>G | CA266905819 | RTL1 | c.1323G>C (p.Lys441Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883466C>T | CA488181679 | RTL1 | c.1323G>A (p.Lys441=) | |
| 14 | g.100883467T>A | CA390996437 | RTL1 | c.1322A>T (p.Lys441Met) | |
| 14 | g.100883467T>C | CA390996438 | RTL1 | c.1322A>G (p.Lys441Arg) | |
| 14 | g.100883467T>G | CA390996439 | RTL1 | c.1322A>C (p.Lys441Thr) | gnomAD v4 |
| 14 | g.100883468T>A | CA390996440 | RTL1 | c.1321A>T (p.Lys441Ter) | |
| 14 | g.100883468T>C | CA390996441 | RTL1 | c.1321A>G (p.Lys441Glu) | |
| 14 | g.100883468T>G | CA390996442 | RTL1 | c.1321A>C (p.Lys441Gln) | |
| 14 | g.100883469C>A | CA390996443 | RTL1 | c.1320G>T (p.Glu440Asp) | |
| 14 | g.100883469C= | CA2159075150 | RTL1 | c.1320G= (p.Glu440=) | |
| 14 | g.100883469C>G | CA390996444 | RTL1 | c.1320G>C (p.Glu440Asp) | |
| 14 | g.100883469C>T | CA488181698 | RTL1 | c.1320G>A (p.Glu440=) | dbSNP |
| 14 | g.100883470T>A | CA390996446 | RTL1 | c.1319A>T (p.Glu440Val) | |
| 14 | g.100883470T>C | CA390996447 | RTL1 | c.1319A>G (p.Glu440Gly) | |
| 14 | g.100883470T>G | CA390996445 | RTL1 | c.1319A>C (p.Glu440Ala) | |
| 14 | g.100883471C>A | CA390996450 | RTL1 | c.1318G>T (p.Glu440Ter) | gnomAD v4 |
| 14 | g.100883471C>G | CA390996448 | RTL1 | c.1318G>C (p.Glu440Gln) | |
| 14 | g.100883471C>T | CA390996449 | RTL1 | c.1318G>A (p.Glu440Lys) | |
| 14 | g.100883472A>C | CA390996451 | RTL1 | c.1317T>G (p.Asp439Glu) | gnomAD v4 |
| 14 | g.100883472A>G | CA488181704 | RTL1 | c.1317T>C (p.Asp439=) | |
| 14 | g.100883472A>T | CA390996452 | RTL1 | c.1317T>A (p.Asp439Glu) | |
| 14 | g.100883473T>A | CA390996453 | RTL1 | c.1316A>T (p.Asp439Val) | |
| 14 | g.100883473T>C | CA390996454 | RTL1 | c.1316A>G (p.Asp439Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883473T>G | CA390996455 | RTL1 | c.1316A>C (p.Asp439Ala) | |
| 14 | g.100883473T= | CA2159075151 | RTL1 | c.1316A= (p.Asp439=) | |
| 14 | g.100883474C>A | CA390996458 | RTL1 | c.1315G>T (p.Asp439Tyr) | |
| 14 | g.100883474C= | CA2159075153 | RTL1 | c.1315G= (p.Asp439=) | |
| 14 | g.100883474C>G | CA390996456 | RTL1 | c.1315G>C (p.Asp439His) | |
| 14 | g.100883474C>T | CA390996457 | RTL1 | c.1315G>A (p.Asp439Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883475C>A | CA390996459 | RTL1 | c.1314G>T (p.Met438Ile) | |
| 14 | g.100883475C= | CA2159075154 | RTL1 | c.1314G= (p.Met438=) | |
| 14 | g.100883475C>G | CA390996460 | RTL1 | c.1314G>C (p.Met438Ile) | |
| 14 | g.100883475C>T | CA390996461 | RTL1 | c.1314G>A (p.Met438Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883476A= | CA2159075155 | RTL1 | c.1313T= (p.Met438=) | |
| 14 | g.100883476A>C | CA390996462 | RTL1 | c.1313T>G (p.Met438Arg) | |
| 14 | g.100883476A>G | CA390996463 | RTL1 | c.1313T>C (p.Met438Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883476A>T | CA390996464 | RTL1 | c.1313T>A (p.Met438Lys) | |
| 14 | g.100883477T>A | CA390996465 | RTL1 | c.1312A>T (p.Met438Leu) | |
| 14 | g.100883477T>C | CA390996467 | RTL1 | c.1312A>G (p.Met438Val) | gnomAD v4 |
| 14 | g.100883477T>G | CA390996466 | RTL1 | c.1312A>C (p.Met438Leu) | |
| 14 | g.100883478G>A | CA488181721 | RTL1 | c.1311C>T (p.Phe437=) | |
| 14 | g.100883478G>C | CA390996468 | RTL1 | c.1311C>G (p.Phe437Leu) | |
| 14 | g.100883478G>T | CA390996469 | RTL1 | c.1311C>A (p.Phe437Leu) | gnomAD v4 |
| 14 | g.100883478_100883479delinsGA | CA2159075156 | RTL1 | c.1310_1311delinsTC (p.Phe437=) | |
| 14 | g.100883479A>C | CA390996470 | RTL1 | c.1310T>G (p.Phe437Cys) | |
| 14 | g.100883479A>G | CA390996471 | RTL1 | c.1310T>C (p.Phe437Ser) | gnomAD v4 |
| 14 | g.100883479A>T | CA390996472 | RTL1 | c.1310T>A (p.Phe437Tyr) | |
| 14 | g.100883480del | CA2159075157 | RTL1 | c.1310del (p.Phe437SerfsTer30) | dbSNP |
| 14 | g.100883480A>C | CA390996473 | RTL1 | c.1309T>G (p.Phe437Val) | |
| 14 | g.100883480A>G | CA390996474 | RTL1 | c.1309T>C (p.Phe437Leu) | |
| 14 | g.100883480A>T | CA390996475 | RTL1 | c.1309T>A (p.Phe437Ile) | |
| 14 | g.100883481G>A | CA488181735 | RTL1 | c.1308C>T (p.Asn436=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883481G>C | CA390996476 | RTL1 | c.1308C>G (p.Asn436Lys) | |
| 14 | g.100883481G= | CA2159075158 | RTL1 | c.1308C= (p.Asn436=) | |
| 14 | g.100883481G>T | CA390996477 | RTL1 | c.1308C>A (p.Asn436Lys) | gnomAD v4 |
| 14 | g.100883482T>A | CA390996478 | RTL1 | c.1307A>T (p.Asn436Ile) | |
| 14 | g.100883482T>C | CA390996479 | RTL1 | c.1307A>G (p.Asn436Ser) | |
| 14 | g.100883482T>G | CA390996480 | RTL1 | c.1307A>C (p.Asn436Thr) | |
| 14 | g.100883483T>A | CA390996481 | RTL1 | c.1306A>T (p.Asn436Tyr) | |
| 14 | g.100883483T>C | CA390996483 | RTL1 | c.1306A>G (p.Asn436Asp) | gnomAD v4 |
| 14 | g.100883483T>G | CA390996482 | RTL1 | c.1306A>C (p.Asn436His) | |
| 14 | g.100883484G>A | CA488181742 | RTL1 | c.1305C>T (p.Gly435=) | |
| 14 | g.100883484G>C | CA488181738 | RTL1 | c.1305C>G (p.Gly435=) | |
| 14 | g.100883484G>T | CA488181740 | RTL1 | c.1305C>A (p.Gly435=) | |
| 14 | g.100883485C>A | CA390996484 | RTL1 | c.1304G>T (p.Gly435Val) | |
| 14 | g.100883485C= | CA2159075159 | RTL1 | c.1304G= (p.Gly435=) | |
| 14 | g.100883485C>G | CA390996485 | RTL1 | c.1304G>C (p.Gly435Ala) | gnomAD v4 |
| 14 | g.100883485C>T | CA390996486 | RTL1 | c.1304G>A (p.Gly435Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883485_100883486insT | CA2514427668 | RTL1 | c.1303_1304insA (p.Gly435GlufsTer6) | |
| 14 | g.100883486C>A | CA390996487 | RTL1 | c.1303G>T (p.Gly435Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883486C= | CA2159075161 | RTL1 | c.1303G= (p.Gly435=) | |
| 14 | g.100883486C>G | CA390996488 | RTL1 | c.1303G>C (p.Gly435Arg) | gnomAD v4 |
| 14 | g.100883486C>T | CA390996489 | RTL1 | c.1303G>A (p.Gly435Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883487G>A | CA488181769 | RTL1 | c.1302C>T (p.Asp434=) | dbSNP gnomAD v4 COSMIC |
| 14 | g.100883487G>C | CA390996491 | RTL1 | c.1302C>G (p.Asp434Glu) | dbSNP gnomAD v4 |
| 14 | g.100883487G= | CA2159075162 | RTL1 | c.1302C= (p.Asp434=) | |
| 14 | g.100883487G>T | CA390996490 | RTL1 | c.1302C>A (p.Asp434Glu) | |
| 14 | g.100883488_100883491del | CA2534973643 | RTL1 | c.1299_1302del (p.Asp434AlafsTer?) | |
| 14 | g.100883488T>A | CA390996492 | RTL1 | c.1301A>T (p.Asp434Val) | |
| 14 | g.100883488T>C | CA390996493 | RTL1 | c.1301A>G (p.Asp434Gly) | |
| 14 | g.100883488T>G | CA390996494 | RTL1 | c.1301A>C (p.Asp434Ala) | |
| 14 | g.100883489C>A | CA390996495 | RTL1 | c.1300G>T (p.Asp434Tyr) | |
| 14 | g.100883489C>G | CA390996496 | RTL1 | c.1300G>C (p.Asp434His) | |
| 14 | g.100883489C>T | CA390996497 | RTL1 | c.1300G>A (p.Asp434Asn) | |
| 14 | g.100883490del | CA2500840373 | RTL1 | c.1299del (p.Asp434ThrfsTer?) | |
| 14 | g.100883490A= | CA2159075164 | RTL1 | c.1299T= (p.Ala433=) | |
| 14 | g.100883490A>C | CA488181784 | RTL1 | c.1299T>G (p.Ala433=) | |
| 14 | g.100883490A>G | CA488181788 | RTL1 | c.1299T>C (p.Ala433=) | dbSNP gnomAD v4 |
| 14 | g.100883490A>T | CA488181790 | RTL1 | c.1299T>A (p.Ala433=) | |
| 14 | g.100883491G>A | CA390996498 | RTL1 | c.1298C>T (p.Ala433Val) | |
| 14 | g.100883491G>C | CA390996500 | RTL1 | c.1298C>G (p.Ala433Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883491G= | CA2159075165 | RTL1 | c.1298C= (p.Ala433=) | |
| 14 | g.100883491G>T | CA390996499 | RTL1 | c.1298C>A (p.Ala433Asp) | |
| 14 | g.100883492C>A | CA390996501 | RTL1 | c.1297G>T (p.Ala433Ser) | |
| 14 | g.100883492C>G | CA390996502 | RTL1 | c.1297G>C (p.Ala433Pro) | |
| 14 | g.100883492C>T | CA390996503 | RTL1 | c.1297G>A (p.Ala433Thr) | |
| 14 | g.100883493T>A | CA488181798 | RTL1 | c.1296A>T (p.Gly432=) | |
| 14 | g.100883493T>C | CA488181799 | RTL1 | c.1296A>G (p.Gly432=) | |
| 14 | g.100883493T>G | CA488181800 | RTL1 | c.1296A>C (p.Gly432=) | |
| 14 | g.100883493_100883503delinsTCCCGAATCCA | CA2159075166 | RTL1 | c.1286_1296delinsTGGATTCGGGA (p.Val429=) | |
| 14 | g.100883493_100883494insGG | CA2505227173 | RTL1 | c.1295_1296insCC (p.Ala433GlnfsTer?) | |
| 14 | g.100883494C>A | CA390996504 | RTL1 | c.1295G>T (p.Gly432Val) | |
| 14 | g.100883494C>G | CA390996505 | RTL1 | c.1295G>C (p.Gly432Ala) | |
| 14 | g.100883494C>T | CA390996506 | RTL1 | c.1295G>A (p.Gly432Glu) | |
| 14 | g.100883496_100883505del | CA2159075167 | RTL1 | c.1286_1295del (p.Val429GlufsTer?) | dbSNP |
| 14 | g.100883495C>A | CA390996507 | RTL1 | c.1294G>T (p.Gly432Ter) | |
| 14 | g.100883495C>G | CA390996508 | RTL1 | c.1294G>C (p.Gly432Arg) | |
| 14 | g.100883495C>T | CA390996509 | RTL1 | c.1294G>A (p.Gly432Arg) | |
| 14 | g.100883496C>A | CA488181807 | RTL1 | c.1293G>T (p.Ser431=) | |
| 14 | g.100883496C= | CA2159075168 | RTL1 | c.1293G= (p.Ser431=) | |
| 14 | g.100883496C>G | CA266905840 | RTL1 | c.1293G>C (p.Ser431=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883496C>T | CA266905830 | RTL1 | c.1293G>A (p.Ser431=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883496_100883497insCG | CA2499881842 | RTL1 | c.1292_1293insCG (p.Ala433GlufsTer?) | |
| 14 | g.100883497G>A | CA390996510 | RTL1 | c.1292C>T (p.Ser431Leu) | COSMIC |
| 14 | g.100883497G>C | CA390996512 | RTL1 | c.1292C>G (p.Ser431Trp) | |
| 14 | g.100883497G>T | CA390996511 | RTL1 | c.1292C>A (p.Ser431Ter) | |
| 14 | g.100883498A>C | CA390996513 | RTL1 | c.1291T>G (p.Ser431Ala) | |
| 14 | g.100883498A>G | CA390996514 | RTL1 | c.1291T>C (p.Ser431Pro) | |
| 14 | g.100883498A>T | CA390996515 | RTL1 | c.1291T>A (p.Ser431Thr) | |
| 14 | g.100883499A>C | CA390996516 | RTL1 | c.1290T>G (p.Asp430Glu) | gnomAD v4 |
| 14 | g.100883499A>G | CA488181815 | RTL1 | c.1290T>C (p.Asp430=) | gnomAD v4 |
| 14 | g.100883499A>T | CA390996517 | RTL1 | c.1290T>A (p.Asp430Glu) | |
| 14 | g.100883500T>A | CA390996520 | RTL1 | c.1289A>T (p.Asp430Val) | |
| 14 | g.100883500T>C | CA390996519 | RTL1 | c.1289A>G (p.Asp430Gly) | |
| 14 | g.100883500T>G | CA390996518 | RTL1 | c.1289A>C (p.Asp430Ala) | dbSNP |
| 14 | g.100883501C>A | CA390996521 | RTL1 | c.1288G>T (p.Asp430Tyr) | gnomAD v4 |
| 14 | g.100883501C>G | CA390996522 | RTL1 | c.1288G>C (p.Asp430His) | |
| 14 | g.100883501C>T | CA390996523 | RTL1 | c.1288G>A (p.Asp430Asn) | dbSNP |
| 14 | g.100883502C>A | CA488181819 | RTL1 | c.1287G>T (p.Val429=) | |
| 14 | g.100883502C>G | CA488181820 | RTL1 | c.1287G>C (p.Val429=) | |
| 14 | g.100883502C>T | CA488181822 | RTL1 | c.1287G>A (p.Val429=) | gnomAD v4 |
| 14 | g.100883503A= | CA2159075170 | RTL1 | c.1286T= (p.Val429=) | |
| 14 | g.100883503A>C | CA390996524 | RTL1 | c.1286T>G (p.Val429Gly) | |
| 14 | g.100883503A>G | CA390996525 | RTL1 | c.1286T>C (p.Val429Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883503A>T | CA390996526 | RTL1 | c.1286T>A (p.Val429Glu) | |
| 14 | g.100883504C>A | CA390996529 | RTL1 | c.1285G>T (p.Val429Leu) | |
| 14 | g.100883504C>G | CA390996527 | RTL1 | c.1285G>C (p.Val429Leu) | |
| 14 | g.100883504C>T | CA390996528 | RTL1 | c.1285G>A (p.Val429Met) | gnomAD v4 |
| 14 | g.100883505C>A | CA488181834 | RTL1 | c.1284G>T (p.Leu428=) | |
| 14 | g.100883505C>G | CA488181833 | RTL1 | c.1284G>C (p.Leu428=) | gnomAD v4 |
| 14 | g.100883505C>T | CA488181832 | RTL1 | c.1284G>A (p.Leu428=) | gnomAD v4 |
| 14 | g.100883506A>C | CA390996530 | RTL1 | c.1283T>G (p.Leu428Arg) | |
| 14 | g.100883506A>G | CA390996531 | RTL1 | c.1283T>C (p.Leu428Pro) | |
| 14 | g.100883506A>T | CA390996532 | RTL1 | c.1283T>A (p.Leu428Gln) | |
| 14 | g.100883507G>A | CA488181837 | RTL1 | c.1282C>T (p.Leu428=) | dbSNP |
| 14 | g.100883507G>C | CA390996533 | RTL1 | c.1282C>G (p.Leu428Val) | |
| 14 | g.100883507G= | CA2159075171 | RTL1 | c.1282C= (p.Leu428=) | |
| 14 | g.100883507G>T | CA390996534 | RTL1 | c.1282C>A (p.Leu428Met) | |
| 14 | g.100883509del | CA2626554046 | RTL1 | c.1282del (p.Leu428TrpfsTer?) | gnomAD v4 |
| 14 | g.100883508G>A | CA488181838 | RTL1 | c.1281C>T (p.Ala427=) | dbSNP |
| 14 | g.100883508G>C | CA488181839 | RTL1 | c.1281C>G (p.Ala427=) | |
| 14 | g.100883508G= | CA2159075172 | RTL1 | c.1281C= (p.Ala427=) | |
| 14 | g.100883508G>T | CA488181841 | RTL1 | c.1281C>A (p.Ala427=) | |
| 14 | g.100883509G>A | CA266905852 | RTL1 | c.1280C>T (p.Ala427Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883509G>C | CA390996535 | RTL1 | c.1280C>G (p.Ala427Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883509G= | CA2159075173 | RTL1 | c.1280C= (p.Ala427=) | |
| 14 | g.100883509G>T | CA390996536 | RTL1 | c.1280C>A (p.Ala427Asp) | |
| 14 | g.100883510C>A | CA390996537 | RTL1 | c.1279G>T (p.Ala427Ser) | |
| 14 | g.100883510C= | CA2159075175 | RTL1 | c.1279G= (p.Ala427=) | |
| 14 | g.100883510C>G | CA390996538 | RTL1 | c.1279G>C (p.Ala427Pro) | |
| 14 | g.100883510C>T | CA390996539 | RTL1 | c.1279G>A (p.Ala427Thr) | dbSNP |
| 14 | g.100883511C>A | CA390996540 | RTL1 | c.1278G>T (p.Gln426His) | |
| 14 | g.100883511C>G | CA390996541 | RTL1 | c.1278G>C (p.Gln426His) | |
| 14 | g.100883511C>T | CA488181846 | RTL1 | c.1278G>A (p.Gln426=) | |
| 14 | g.100883512T>A | CA390996542 | RTL1 | c.1277A>T (p.Gln426Leu) | |
| 14 | g.100883512T>C | CA390996544 | RTL1 | c.1277A>G (p.Gln426Arg) | |
| 14 | g.100883512T>G | CA390996543 | RTL1 | c.1277A>C (p.Gln426Pro) | |
| 14 | g.100883513G>A | CA390996545 | RTL1 | c.1276C>T (p.Gln426Ter) | |
| 14 | g.100883513G>C | CA390996546 | RTL1 | c.1276C>G (p.Gln426Glu) | |
| 14 | g.100883513G>T | CA390996547 | RTL1 | c.1276C>A (p.Gln426Lys) | |
| 14 | g.100883514G>A | CA488181847 | RTL1 | c.1275C>T (p.Val425=) | |
| 14 | g.100883514G>C | CA488181849 | RTL1 | c.1275C>G (p.Val425=) | |
| 14 | g.100883514G= | CA2159075178 | RTL1 | c.1275C= (p.Val425=) | |
| 14 | g.100883514G>T | CA488181851 | RTL1 | c.1275C>A (p.Val425=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883515A>C | CA390996548 | RTL1 | c.1274T>G (p.Val425Gly) | |
| 14 | g.100883515A>G | CA390996549 | RTL1 | c.1274T>C (p.Val425Ala) | |
| 14 | g.100883515A>T | CA390996550 | RTL1 | c.1274T>A (p.Val425Asp) | |
| 14 | g.100883516C>A | CA390996551 | RTL1 | c.1273G>T (p.Val425Phe) | |
| 14 | g.100883516C= | CA2159075179 | RTL1 | c.1273G= (p.Val425=) | |
| 14 | g.100883516C>G | CA390996552 | RTL1 | c.1273G>C (p.Val425Leu) | |
| 14 | g.100883516C>T | CA7347327 | RTL1 | c.1273G>A (p.Val425Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883517C>A | CA488181867 | RTL1 | c.1272G>T (p.Ala424=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883517C= | CA2159075180 | RTL1 | c.1272G= (p.Ala424=) | |
| 14 | g.100883517C>G | CA488181869 | RTL1 | c.1272G>C (p.Ala424=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883517C>T | CA7347328 | RTL1 | c.1272G>A (p.Ala424=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883518_100883524del | CA2626554060 | RTL1 | c.1266_1272del (p.Ser422ArgfsTer?) | gnomAD v4 |
| 14 | g.100883518G>A | CA266905900 | RTL1 | c.1271C>T (p.Ala424Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883518G>C | CA390996553 | RTL1 | c.1271C>G (p.Ala424Gly) | |
| 14 | g.100883518G= | CA2159075185 | RTL1 | c.1271C= (p.Ala424=) | |
| 14 | g.100883518G>T | CA390996554 | RTL1 | c.1271C>A (p.Ala424Glu) | |
| 14 | g.100883519C>A | CA390996556 | RTL1 | c.1270G>T (p.Ala424Ser) | gnomAD v4 |
| 14 | g.100883519C= | CA2159075186 | RTL1 | c.1270G= (p.Ala424=) | |
| 14 | g.100883519C>G | CA390996555 | RTL1 | c.1270G>C (p.Ala424Pro) | dbSNP |
| 14 | g.100883519C>T | CA266905903 | RTL1 | c.1270G>A (p.Ala424Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883520G>A | CA488181876 | RTL1 | c.1269C>T (p.Val423=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883520G>C | CA488181877 | RTL1 | c.1269C>G (p.Val423=) | |
| 14 | g.100883520G= | CA2159075189 | RTL1 | c.1269C= (p.Val423=) | |
| 14 | g.100883520G>T | CA488181878 | RTL1 | c.1269C>A (p.Val423=) | |
| 14 | g.100883521A>C | CA390996557 | RTL1 | c.1268T>G (p.Val423Gly) | |
| 14 | g.100883521A>G | CA390996558 | RTL1 | c.1268T>C (p.Val423Ala) | |
| 14 | g.100883521A>T | CA390996559 | RTL1 | c.1268T>A (p.Val423Asp) | |
| 14 | g.100883522C>A | CA390996560 | RTL1 | c.1267G>T (p.Val423Phe) | |
| 14 | g.100883522C= | CA2159075192 | RTL1 | c.1267G= (p.Val423=) | |
| 14 | g.100883522C>G | CA390996561 | RTL1 | c.1267G>C (p.Val423Leu) | |
| 14 | g.100883522C>T | CA7347329 | RTL1 | c.1267G>A (p.Val423Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883523G>A | CA488181885 | RTL1 | c.1266C>T (p.Ser422=) | dbSNP gnomAD v4 COSMIC |
| 14 | g.100883523G>C | CA390996562 | RTL1 | c.1266C>G (p.Ser422Arg) | gnomAD v4 |
| 14 | g.100883523G= | CA2159075193 | RTL1 | c.1266C= (p.Ser422=) | |
| 14 | g.100883523G>T | CA390996563 | RTL1 | c.1266C>A (p.Ser422Arg) | gnomAD v4 |
| 14 | g.100883524C>A | CA390996564 | RTL1 | c.1265G>T (p.Ser422Ile) | |
| 14 | g.100883524C>G | CA390996565 | RTL1 | c.1265G>C (p.Ser422Thr) | |
| 14 | g.100883524C>T | CA390996566 | RTL1 | c.1265G>A (p.Ser422Asn) | |
| 14 | g.100883525T>A | CA390996567 | RTL1 | c.1264A>T (p.Ser422Cys) | |
| 14 | g.100883525T>C | CA390996570 | RTL1 | c.1264A>G (p.Ser422Gly) | |
| 14 | g.100883525T>G | CA390996568 | RTL1 | c.1264A>C (p.Ser422Arg) | |
| 14 | g.100883526G>A | CA488181890 | RTL1 | c.1263C>T (p.His421=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883526G>C | CA390996571 | RTL1 | c.1263C>G (p.His421Gln) | |
| 14 | g.100883526G= | CA2159075194 | RTL1 | c.1263C= (p.His421=) | |
| 14 | g.100883526G>T | CA390996572 | RTL1 | c.1263C>A (p.His421Gln) | |
| 14 | g.100883526dup | CA2626554099 | RTL1 | c.1263dup (p.Ser422GlnfsTer13) | gnomAD v4 |
| 14 | g.100883527T>A | CA390996573 | RTL1 | c.1262A>T (p.His421Leu) | dbSNP |
| 14 | g.100883527T>C | CA390996574 | RTL1 | c.1262A>G (p.His421Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883527T>G | CA390996575 | RTL1 | c.1262A>C (p.His421Pro) | |
| 14 | g.100883527T= | CA2159075197 | RTL1 | c.1262A= (p.His421=) | |
| 14 | g.100883528G>A | CA390996576 | RTL1 | c.1261C>T (p.His421Tyr) | |
| 14 | g.100883528G>C | CA390996577 | RTL1 | c.1261C>G (p.His421Asp) | |
| 14 | g.100883528G>T | CA390996578 | RTL1 | c.1261C>A (p.His421Asn) |