Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.167341209A= | CA1680342002 | TTLL2 | c.1309A= (p.Ile437=) c.1090A= (p.Ile364=) | |
6 | g.167341209A>C | CA366424283 | TTLL2 | c.1309A>C (p.Ile437Leu) c.1090A>C (p.Ile364Leu) | |
6 | g.167341209A>G | CA151970242 | TTLL2 | c.1309A>G (p.Ile437Val) c.1090A>G (p.Ile364Val) | ClinVar dbSNP gnomAD v4 |
6 | g.167341209A>T | CA366424284 | TTLL2 | c.1309A>T (p.Ile437Phe) c.1090A>T (p.Ile364Phe) | |
6 | g.167341210T>A | CA366424285 | TTLL2 | c.1310T>A (p.Ile437Asn) c.1091T>A (p.Ile364Asn) | |
6 | g.167341210T>C | CA366424287 | TTLL2 | c.1310T>C (p.Ile437Thr) c.1091T>C (p.Ile364Thr) | |
6 | g.167341210T>G | CA366424286 | TTLL2 | c.1310T>G (p.Ile437Ser) c.1091T>G (p.Ile364Ser) | |
6 | g.167341211C>A | CA453305269 | TTLL2 | c.1311C>A (p.Ile437=) c.1092C>A (p.Ile364=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.167341211C= | CA1680342003 | TTLL2 | c.1311C= (p.Ile437=) c.1092C= (p.Ile364=) | |
6 | g.167341211C>G | CA366424288 | TTLL2 | c.1311C>G (p.Ile437Met) c.1092C>G (p.Ile364Met) | |
6 | g.167341211C>T | CA4097507 | TTLL2 | c.1311C>T (p.Ile437=) c.1092C>T (p.Ile364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341212G>A | CA4097508 | TTLL2 | c.1312G>A (p.Asp438Asn) c.1093G>A (p.Asp365Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341212G>C | CA366424289 | TTLL2 | c.1312G>C (p.Asp438His) c.1093G>C (p.Asp365His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341212G= | CA1680342004 | TTLL2 | c.1312G= (p.Asp438=) c.1093G= (p.Asp365=) | |
6 | g.167341212G>T | CA366424290 | TTLL2 | c.1312G>T (p.Asp438Tyr) c.1093G>T (p.Asp365Tyr) | |
6 | g.167341213A>C | CA366424291 | TTLL2 | c.1313A>C (p.Asp438Ala) c.1094A>C (p.Asp365Ala) | |
6 | g.167341213A>G | CA366424292 | TTLL2 | c.1313A>G (p.Asp438Gly) c.1094A>G (p.Asp365Gly) | gnomAD v4 |
6 | g.167341213A>T | CA366424293 | TTLL2 | c.1313A>T (p.Asp438Val) c.1094A>T (p.Asp365Val) | |
6 | g.167341214C>A | CA366424294 | TTLL2 | c.1314C>A (p.Asp438Glu) c.1095C>A (p.Asp365Glu) | |
6 | g.167341214C= | CA1680342005 | TTLL2 | c.1314C= (p.Asp438=) c.1095C= (p.Asp365=) | |
6 | g.167341214C>G | CA366424295 | TTLL2 | c.1314C>G (p.Asp438Glu) c.1095C>G (p.Asp365Glu) | dbSNP |
6 | g.167341214C>T | CA4097509 | TTLL2 | c.1314C>T (p.Asp438=) c.1095C>T (p.Asp365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341214_167341215insT | CA4097510 | TTLL2 | c.1314_1315insT (p.Ala439CysfsTer5) c.1095_1096insT (p.Ala366CysfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341215G>A | CA151970261 | TTLL2 | c.1315G>A (p.Ala439Thr) c.1096G>A (p.Ala366Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341215G>C | CA366424297 | TTLL2 | c.1315G>C (p.Ala439Pro) c.1096G>C (p.Ala366Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341215G= | CA1680342006 | TTLL2 | c.1315G= (p.Ala439=) c.1096G= (p.Ala366=) | |
6 | g.167341215G>T | CA366424296 | TTLL2 | c.1315G>T (p.Ala439Ser) c.1096G>T (p.Ala366Ser) | |
6 | g.167341216C>A | CA366424298 | TTLL2 | c.1316C>A (p.Ala439Asp) c.1097C>A (p.Ala366Asp) | dbSNP |
6 | g.167341216C= | CA1680342008 | TTLL2 | c.1316C= (p.Ala439=) c.1097C= (p.Ala366=) | |
6 | g.167341216C>G | CA151970267 | TTLL2 | c.1316C>G (p.Ala439Gly) c.1097C>G (p.Ala366Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341216C>T | CA4097512 | TTLL2 | c.1316C>T (p.Ala439Val) c.1097C>T (p.Ala366Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341216_167341217delinsCT | CA1680342007 | TTLL2 | c.1316_1317delinsCT (p.Ala439=) c.1097_1098delinsCT (p.Ala366=) | |
6 | g.167341217del | CA4097511 | TTLL2 | c.1317del (p.Ala440GlnfsTer?) c.1098del (p.Ala367GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341217T>A | CA453305281 | TTLL2 | c.1317T>A (p.Ala439=) c.1098T>A (p.Ala366=) | |
6 | g.167341217T>C | CA453305279 | TTLL2 | c.1317T>C (p.Ala439=) c.1098T>C (p.Ala366=) | gnomAD v4 |
6 | g.167341217T>G | CA453305280 | TTLL2 | c.1317T>G (p.Ala439=) c.1098T>G (p.Ala366=) | |
6 | g.167341218G>A | CA366424301 | TTLL2 | c.1318G>A (p.Ala440Thr) c.1099G>A (p.Ala367Thr) | |
6 | g.167341218G>C | CA366424299 | TTLL2 | c.1318G>C (p.Ala440Pro) c.1099G>C (p.Ala367Pro) | |
6 | g.167341218G= | CA1680342009 | TTLL2 | c.1318G= (p.Ala440=) c.1099G= (p.Ala367=) | |
6 | g.167341218G>T | CA366424300 | TTLL2 | c.1318G>T (p.Ala440Ser) c.1099G>T (p.Ala367Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341219C>A | CA366424302 | TTLL2 | c.1319C>A (p.Ala440Glu) c.1100C>A (p.Ala367Glu) | |
6 | g.167341219C>G | CA366424303 | TTLL2 | c.1319C>G (p.Ala440Gly) c.1100C>G (p.Ala367Gly) | |
6 | g.167341219C>T | CA366424304 | TTLL2 | c.1319C>T (p.Ala440Val) c.1100C>T (p.Ala367Val) | gnomAD v4 |
6 | g.167341220A>C | CA453305282 | TTLL2 | c.1320A>C (p.Ala440=) c.1101A>C (p.Ala367=) | |
6 | g.167341220A>G | CA453305283 | TTLL2 | c.1320A>G (p.Ala440=) c.1101A>G (p.Ala367=) | |
6 | g.167341220A>T | CA453305284 | TTLL2 | c.1320A>T (p.Ala440=) c.1101A>T (p.Ala367=) | |
6 | g.167341224_167341225insAAAAAA | CA2773968274 | TTLL2 | c.1324_1325insAAAAAA (p.Lys441_Ser442insLysLys) c.1105_1106insAAAAAA (p.Lys368_Ser369insLysLys) | |
6 | g.167341225_167341226insAAAAAAAAAG | CA2773968273 | TTLL2 | c.1325_1326insAAAAAAAAAG (p.Ser442ArgfsTer5) c.1106_1107insAAAAAAAAAG (p.Ser369ArgfsTer5) | |
6 | g.167341221A>C | CA366424305 | TTLL2 | c.1321A>C (p.Lys441Gln) c.1102A>C (p.Lys368Gln) | |
6 | g.167341221A>G | CA366424306 | TTLL2 | c.1321A>G (p.Lys441Glu) c.1102A>G (p.Lys368Glu) | |
6 | g.167341221A>T | CA366424307 | TTLL2 | c.1321A>T (p.Lys441Ter) c.1102A>T (p.Lys368Ter) | |
6 | g.167341222A= | CA1680342010 | TTLL2 | c.1322A= (p.Lys441=) c.1103A= (p.Lys368=) | |
6 | g.167341222A>C | CA4097513 | TTLL2 | c.1322A>C (p.Lys441Thr) c.1103A>C (p.Lys368Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341222A>G | CA366424308 | TTLL2 | c.1322A>G (p.Lys441Arg) c.1103A>G (p.Lys368Arg) | |
6 | g.167341222A>T | CA366424309 | TTLL2 | c.1322A>T (p.Lys441Ile) c.1103A>T (p.Lys368Ile) | |
6 | g.167341223A>C | CA366424310 | TTLL2 | c.1323A>C (p.Lys441Asn) c.1104A>C (p.Lys368Asn) | gnomAD v4 |
6 | g.167341223A>G | CA453305285 | TTLL2 | c.1323A>G (p.Lys441=) c.1104A>G (p.Lys368=) | |
6 | g.167341223A>T | CA366424311 | TTLL2 | c.1323A>T (p.Lys441Asn) c.1104A>T (p.Lys368Asn) | |
6 | g.167341224A= | CA1680342011 | TTLL2 | c.1324A= (p.Ser442=) c.1105A= (p.Ser369=) | |
6 | g.167341224A>C | CA366424312 | TTLL2 | c.1324A>C (p.Ser442Arg) c.1105A>C (p.Ser369Arg) | |
6 | g.167341224A>G | CA366424314 | TTLL2 | c.1324A>G (p.Ser442Gly) c.1105A>G (p.Ser369Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341224A>T | CA366424313 | TTLL2 | c.1324A>T (p.Ser442Cys) c.1105A>T (p.Ser369Cys) | |
6 | g.167341225G>A | CA366424315 | TTLL2 | c.1325G>A (p.Ser442Asn) c.1106G>A (p.Ser369Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.167341225G>C | CA366424316 | TTLL2 | c.1325G>C (p.Ser442Thr) c.1106G>C (p.Ser369Thr) | |
6 | g.167341225G= | CA1680342012 | TTLL2 | c.1325G= (p.Ser442=) c.1106G= (p.Ser369=) | |
6 | g.167341225G>T | CA366424317 | TTLL2 | c.1325G>T (p.Ser442Ile) c.1106G>T (p.Ser369Ile) | |
6 | g.167341226T>A | CA366424318 | TTLL2 | c.1326T>A (p.Ser442Arg) c.1107T>A (p.Ser369Arg) | |
6 | g.167341226T>C | CA453305288 | TTLL2 | c.1326T>C (p.Ser442=) c.1107T>C (p.Ser369=) | |
6 | g.167341226T>G | CA366424319 | TTLL2 | c.1326T>G (p.Ser442Arg) c.1107T>G (p.Ser369Arg) | |
6 | g.167341227del | CA2578797063 | TTLL2 | c.1327del (p.Asp443ThrfsTer?) c.1108del (p.Asp370ThrfsTer?) | gnomAD v4 |
6 | g.167341227G>A | CA366424320 | TTLL2 | c.1327G>A (p.Asp443Asn) c.1108G>A (p.Asp370Asn) | |
6 | g.167341227G>C | CA4097514 | TTLL2 | c.1327G>C (p.Asp443His) c.1108G>C (p.Asp370His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341227G= | CA1680342013 | TTLL2 | c.1327G= (p.Asp443=) c.1108G= (p.Asp370=) | |
6 | g.167341227G>T | CA366424321 | TTLL2 | c.1327G>T (p.Asp443Tyr) c.1108G>T (p.Asp370Tyr) | |
6 | g.167341228A>C | CA366424322 | TTLL2 | c.1328A>C (p.Asp443Ala) c.1109A>C (p.Asp370Ala) | |
6 | g.167341228A>G | CA366424323 | TTLL2 | c.1328A>G (p.Asp443Gly) c.1109A>G (p.Asp370Gly) | |
6 | g.167341228A>T | CA366424324 | TTLL2 | c.1328A>T (p.Asp443Val) c.1109A>T (p.Asp370Val) | |
6 | g.167341229C>A | CA366424325 | TTLL2 | c.1329C>A (p.Asp443Glu) c.1110C>A (p.Asp370Glu) | |
6 | g.167341229C= | CA1680342014 | TTLL2 | c.1329C= (p.Asp443=) c.1110C= (p.Asp370=) | |
6 | g.167341229C>G | CA366424326 | TTLL2 | c.1329C>G (p.Asp443Glu) c.1110C>G (p.Asp370Glu) | |
6 | g.167341229C>T | CA453305290 | TTLL2 | c.1329C>T (p.Asp443=) c.1110C>T (p.Asp370=) | |
6 | g.167341230A= | CA1680342015 | TTLL2 | c.1330A= (p.Arg444=) c.1111A= (p.Arg371=) | |
6 | g.167341230A>C | CA453305292 | TTLL2 | c.1330A>C (p.Arg444=) c.1111A>C (p.Arg371=) | |
6 | g.167341230A>G | CA366424327 | TTLL2 | c.1330A>G (p.Arg444Gly) c.1111A>G (p.Arg371Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341230A>T | CA366424328 | TTLL2 | c.1330A>T (p.Arg444Ter) c.1111A>T (p.Arg371Ter) | |
6 | g.167341230dup | CA4097515 | TTLL2 | c.1330dup (p.Arg444LysfsTer5) c.1111dup (p.Arg371LysfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341231G>A | CA366424329 | TTLL2 | c.1331G>A (p.Arg444Lys) c.1112G>A (p.Arg371Lys) | |
6 | g.167341231G>C | CA366424330 | TTLL2 | c.1331G>C (p.Arg444Thr) c.1112G>C (p.Arg371Thr) | |
6 | g.167341231G>T | CA366424331 | TTLL2 | c.1331G>T (p.Arg444Ile) c.1112G>T (p.Arg371Ile) | |
6 | g.167341231_167341232delinsGA | CA1680342016 | TTLL2 | c.1331_1332delinsGA (p.Arg444=) c.1112_1113delinsGA (p.Arg371=) | |
6 | g.167341232del | CA1680342017 | TTLL2 | c.1332del (p.Gly445ValfsTer?) c.1113del (p.Gly372ValfsTer?) | dbSNP |
6 | g.167341232A>C | CA366424333 | TTLL2 | c.1332A>C (p.Arg444Ser) c.1113A>C (p.Arg371Ser) | |
6 | g.167341232A>G | CA453305296 | TTLL2 | c.1332A>G (p.Arg444=) c.1113A>G (p.Arg371=) | |
6 | g.167341232A>T | CA366424332 | TTLL2 | c.1332A>T (p.Arg444Ser) c.1113A>T (p.Arg371Ser) | |
6 | g.167341233G>A | CA4097516 | TTLL2 | c.1333G>A (p.Gly445Ser) c.1114G>A (p.Gly372Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341233G>C | CA151970298 | TTLL2 | c.1333G>C (p.Gly445Arg) c.1114G>C (p.Gly372Arg) | dbSNP |
6 | g.167341233G= | CA1680342018 | TTLL2 | c.1333G= (p.Gly445=) c.1114G= (p.Gly372=) | |
6 | g.167341233G>T | CA366424334 | TTLL2 | c.1333G>T (p.Gly445Cys) c.1114G>T (p.Gly372Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341234G>A | CA4097517 | TTLL2 | c.1334G>A (p.Gly445Asp) c.1115G>A (p.Gly372Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341234G>C | CA366424335 | TTLL2 | c.1334G>C (p.Gly445Ala) c.1115G>C (p.Gly372Ala) | |
6 | g.167341234G= | CA1680342019 | TTLL2 | c.1334G= (p.Gly445=) c.1115G= (p.Gly372=) | |
6 | g.167341234G>T | CA366424336 | TTLL2 | c.1334G>T (p.Gly445Val) c.1115G>T (p.Gly372Val) | |
6 | g.167341235T>A | CA453305299 | TTLL2 | c.1335T>A (p.Gly445=) c.1116T>A (p.Gly372=) | |
6 | g.167341235T>C | CA453305300 | TTLL2 | c.1335T>C (p.Gly445=) c.1116T>C (p.Gly372=) | |
6 | g.167341235T>G | CA453305302 | TTLL2 | c.1335T>G (p.Gly445=) c.1116T>G (p.Gly372=) | dbSNP |
6 | g.167341235T= | CA1680342020 | TTLL2 | c.1335T= (p.Gly445=) c.1116T= (p.Gly372=) | |
6 | g.167341236G>A | CA366424337 | TTLL2 | c.1336G>A (p.Gly446Arg) c.1117G>A (p.Gly373Arg) | gnomAD v4 |
6 | g.167341236G>C | CA366424339 | TTLL2 | c.1336G>C (p.Gly446Arg) c.1117G>C (p.Gly373Arg) | |
6 | g.167341236G>T | CA366424338 | TTLL2 | c.1336G>T (p.Gly446Trp) c.1117G>T (p.Gly373Trp) | |
6 | g.167341237G>A | CA366424340 | TTLL2 | c.1337G>A (p.Gly446Glu) c.1118G>A (p.Gly373Glu) | |
6 | g.167341237G>C | CA366424341 | TTLL2 | c.1337G>C (p.Gly446Ala) c.1118G>C (p.Gly373Ala) | |
6 | g.167341237G>T | CA366424342 | TTLL2 | c.1337G>T (p.Gly446Val) c.1118G>T (p.Gly373Val) | |
6 | g.167341238G>A | CA4097518 | TTLL2 | c.1338G>A (p.Gly446=) c.1119G>A (p.Gly373=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341238G>C | CA453305305 | TTLL2 | c.1338G>C (p.Gly446=) c.1119G>C (p.Gly373=) | gnomAD v4 |
6 | g.167341238G= | CA1680342021 | TTLL2 | c.1338G= (p.Gly446=) c.1119G= (p.Gly373=) | |
6 | g.167341238G>T | CA453305304 | TTLL2 | c.1338G>T (p.Gly446=) c.1119G>T (p.Gly373=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341239C>A | CA366424343 | TTLL2 | c.1339C>A (p.Leu447Ile) c.1120C>A (p.Leu374Ile) | |
6 | g.167341239C>G | CA366424344 | TTLL2 | c.1339C>G (p.Leu447Val) c.1120C>G (p.Leu374Val) | |
6 | g.167341239C>T | CA366424345 | TTLL2 | c.1339C>T (p.Leu447Phe) c.1120C>T (p.Leu374Phe) | |
6 | g.167341240T>A | CA366424346 | TTLL2 | c.1340T>A (p.Leu447His) c.1121T>A (p.Leu374His) | |
6 | g.167341240T>C | CA4097519 | TTLL2 | c.1340T>C (p.Leu447Pro) c.1121T>C (p.Leu374Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341240T>G | CA366424347 | TTLL2 | c.1340T>G (p.Leu447Arg) c.1121T>G (p.Leu374Arg) | |
6 | g.167341240T= | CA1680342022 | TTLL2 | c.1340T= (p.Leu447=) c.1121T= (p.Leu374=) | |
6 | g.167341241T>A | CA453305309 | TTLL2 | c.1341T>A (p.Leu447=) c.1122T>A (p.Leu374=) | |
6 | g.167341241T>C | CA453305310 | TTLL2 | c.1341T>C (p.Leu447=) c.1122T>C (p.Leu374=) | gnomAD v4 |
6 | g.167341241T>G | CA453305311 | TTLL2 | c.1341T>G (p.Leu447=) c.1122T>G (p.Leu374=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341241T= | CA1680342023 | TTLL2 | c.1341T= (p.Leu447=) c.1122T= (p.Leu374=) | |
6 | g.167341242G>A | CA366424349 | TTLL2 | c.1342G>A (p.Asp448Asn) c.1123G>A (p.Asp375Asn) | |
6 | g.167341242G>C | CA4097520 | TTLL2 | c.1342G>C (p.Asp448His) c.1123G>C (p.Asp375His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341242G= | CA1680342024 | TTLL2 | c.1342G= (p.Asp448=) c.1123G= (p.Asp375=) | |
6 | g.167341242G>T | CA366424348 | TTLL2 | c.1342G>T (p.Asp448Tyr) c.1123G>T (p.Asp375Tyr) | |
6 | g.167341243A>C | CA366424350 | TTLL2 | c.1343A>C (p.Asp448Ala) c.1124A>C (p.Asp375Ala) | |
6 | g.167341243A>G | CA366424352 | TTLL2 | c.1343A>G (p.Asp448Gly) c.1124A>G (p.Asp375Gly) | |
6 | g.167341243A>T | CA366424351 | TTLL2 | c.1343A>T (p.Asp448Val) c.1124A>T (p.Asp375Val) | |
6 | g.167341244T>A | CA366424353 | TTLL2 | c.1344T>A (p.Asp448Glu) c.1125T>A (p.Asp375Glu) | |
6 | g.167341244T>C | CA453305315 | TTLL2 | c.1344T>C (p.Asp448=) c.1125T>C (p.Asp375=) | |
6 | g.167341244T>G | CA366424354 | TTLL2 | c.1344T>G (p.Asp448Glu) c.1125T>G (p.Asp375Glu) | |
6 | g.167341245G>A | CA4097521 | TTLL2 | c.1345G>A (p.Ala449Thr) c.1126G>A (p.Ala376Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341245G>C | CA366424355 | TTLL2 | c.1345G>C (p.Ala449Pro) c.1126G>C (p.Ala376Pro) | |
6 | g.167341245G= | CA1680342025 | TTLL2 | c.1345G= (p.Ala449=) c.1126G= (p.Ala376=) | |
6 | g.167341245G>T | CA366424356 | TTLL2 | c.1345G>T (p.Ala449Ser) c.1126G>T (p.Ala376Ser) | |
6 | g.167341246C>A | CA366424357 | TTLL2 | c.1346C>A (p.Ala449Asp) c.1127C>A (p.Ala376Asp) | |
6 | g.167341246C= | CA1680342026 | TTLL2 | c.1346C= (p.Ala449=) c.1127C= (p.Ala376=) | |
6 | g.167341246C>G | CA366424358 | TTLL2 | c.1346C>G (p.Ala449Gly) c.1127C>G (p.Ala376Gly) | gnomAD v4 |
6 | g.167341246C>T | CA366424359 | TTLL2 | c.1346C>T (p.Ala449Val) c.1127C>T (p.Ala376Val) | dbSNP |
6 | g.167341248_167341250dup | CA2681211343 | TTLL2 | c.1348_1350dup (p.Pro450_Asp451insPro) c.1129_1131dup (p.Pro377_Asp378insPro) | gnomAD v4 |
6 | g.167341247T>A | CA453305321 | TTLL2 | c.1347T>A (p.Ala449=) c.1128T>A (p.Ala376=) | |
6 | g.167341247T>C | CA453305318 | TTLL2 | c.1347T>C (p.Ala449=) c.1128T>C (p.Ala376=) | |
6 | g.167341247T>G | CA453305320 | TTLL2 | c.1347T>G (p.Ala449=) c.1128T>G (p.Ala376=) | |
6 | g.167341248C>A | CA366424360 | TTLL2 | c.1348C>A (p.Pro450Thr) c.1129C>A (p.Pro377Thr) | |
6 | g.167341248C>G | CA366424361 | TTLL2 | c.1348C>G (p.Pro450Ala) c.1129C>G (p.Pro377Ala) | |
6 | g.167341248C>T | CA366424362 | TTLL2 | c.1348C>T (p.Pro450Ser) c.1129C>T (p.Pro377Ser) | gnomAD v4 |
6 | g.167341249C>A | CA366424365 | TTLL2 | c.1349C>A (p.Pro450His) c.1130C>A (p.Pro377His) | dbSNP |
6 | g.167341249C>G | CA366424364 | TTLL2 | c.1349C>G (p.Pro450Arg) c.1130C>G (p.Pro377Arg) | |
6 | g.167341249C>T | CA366424363 | TTLL2 | c.1349C>T (p.Pro450Leu) c.1130C>T (p.Pro377Leu) | |
6 | g.167341250T>A | CA453305323 | TTLL2 | c.1350T>A (p.Pro450=) c.1131T>A (p.Pro377=) | |
6 | g.167341250T>C | CA453305324 | TTLL2 | c.1350T>C (p.Pro450=) c.1131T>C (p.Pro377=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341250T>G | CA453305325 | TTLL2 | c.1350T>G (p.Pro450=) c.1131T>G (p.Pro377=) | |
6 | g.167341250T= | CA1680342027 | TTLL2 | c.1350T= (p.Pro450=) c.1131T= (p.Pro377=) | |
6 | g.167341251G>A | CA366424366 | TTLL2 | c.1351G>A (p.Asp451Asn) c.1132G>A (p.Asp378Asn) | gnomAD v4 |
6 | g.167341251G>C | CA366424367 | TTLL2 | c.1351G>C (p.Asp451His) c.1132G>C (p.Asp378His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341251G= | CA1680342028 | TTLL2 | c.1351G= (p.Asp451=) c.1132G= (p.Asp378=) | |
6 | g.167341251G>T | CA366424368 | TTLL2 | c.1351G>T (p.Asp451Tyr) c.1132G>T (p.Asp378Tyr) | |
6 | g.167341252A>C | CA366424369 | TTLL2 | c.1352A>C (p.Asp451Ala) c.1133A>C (p.Asp378Ala) | gnomAD v4 |
6 | g.167341252A>G | CA366424370 | TTLL2 | c.1352A>G (p.Asp451Gly) c.1133A>G (p.Asp378Gly) | |
6 | g.167341252A>T | CA366424371 | TTLL2 | c.1352A>T (p.Asp451Val) c.1133A>T (p.Asp378Val) | |
6 | g.167341253C>A | CA366424372 | TTLL2 | c.1353C>A (p.Asp451Glu) c.1134C>A (p.Asp378Glu) | |
6 | g.167341253C>G | CA366424373 | TTLL2 | c.1353C>G (p.Asp451Glu) c.1134C>G (p.Asp378Glu) | |
6 | g.167341253C>T | CA453305330 | TTLL2 | c.1353C>T (p.Asp451=) c.1134C>T (p.Asp378=) | |
6 | g.167341254T>A | CA366424374 | TTLL2 | c.1354T>A (p.Cys452Ser) c.1135T>A (p.Cys379Ser) | |
6 | g.167341254T>C | CA366424375 | TTLL2 | c.1354T>C (p.Cys452Arg) c.1135T>C (p.Cys379Arg) | |
6 | g.167341254T>G | CA366424376 | TTLL2 | c.1354T>G (p.Cys452Gly) c.1135T>G (p.Cys379Gly) | gnomAD v4 |
6 | g.167341255G>A | CA366424379 | TTLL2 | c.1355G>A (p.Cys452Tyr) c.1136G>A (p.Cys379Tyr) | gnomAD v4 |
6 | g.167341255G>C | CA366424378 | TTLL2 | c.1355G>C (p.Cys452Ser) c.1136G>C (p.Cys379Ser) | |
6 | g.167341255G>T | CA366424377 | TTLL2 | c.1355G>T (p.Cys452Phe) c.1136G>T (p.Cys379Phe) | |
6 | g.167341256T>A | CA366424380 | TTLL2 | c.1356T>A (p.Cys452Ter) c.1137T>A (p.Cys379Ter) | |
6 | g.167341256T>C | CA453305336 | TTLL2 | c.1356T>C (p.Cys452=) c.1137T>C (p.Cys379=) | gnomAD v4 |
6 | g.167341256T>G | CA366424381 | TTLL2 | c.1356T>G (p.Cys452Trp) c.1137T>G (p.Cys379Trp) | |
6 | g.167341257C>A | CA366424382 | TTLL2 | c.1357C>A (p.Leu453Ile) c.1138C>A (p.Leu380Ile) | |
6 | g.167341257C>G | CA366424383 | TTLL2 | c.1357C>G (p.Leu453Val) c.1138C>G (p.Leu380Val) | |
6 | g.167341257C>T | CA366424384 | TTLL2 | c.1357C>T (p.Leu453Phe) c.1138C>T (p.Leu380Phe) | gnomAD v4 |
6 | g.167341260_167341263del | CA2681211344 | TTLL2 | c.1360_1363del (p.Pro454MetfsTer22) c.1141_1144del (p.Pro381MetfsTer22) | gnomAD v4 |
6 | g.167341258T>A | CA366424387 | TTLL2 | c.1358T>A (p.Leu453His) c.1139T>A (p.Leu380His) | |
6 | g.167341258T>C | CA366424386 | TTLL2 | c.1358T>C (p.Leu453Pro) c.1139T>C (p.Leu380Pro) | |
6 | g.167341258T>G | CA366424385 | TTLL2 | c.1358T>G (p.Leu453Arg) c.1139T>G (p.Leu380Arg) | |
6 | g.167341259T>A | CA453305341 | TTLL2 | c.1359T>A (p.Leu453=) c.1140T>A (p.Leu380=) | |
6 | g.167341259T>C | CA453305342 | TTLL2 | c.1359T>C (p.Leu453=) c.1140T>C (p.Leu380=) | gnomAD v4 |
6 | g.167341259T>G | CA453305343 | TTLL2 | c.1359T>G (p.Leu453=) c.1140T>G (p.Leu380=) | |
6 | g.167341260C>A | CA366424388 | TTLL2 | c.1360C>A (p.Pro454Thr) c.1141C>A (p.Pro381Thr) | |
6 | g.167341260C= | CA1680342029 | TTLL2 | c.1360C= (p.Pro454=) c.1141C= (p.Pro381=) | |
6 | g.167341260C>G | CA4097522 | TTLL2 | c.1360C>G (p.Pro454Ala) c.1141C>G (p.Pro381Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341260C>T | CA366424389 | TTLL2 | c.1360C>T (p.Pro454Ser) c.1141C>T (p.Pro381Ser) | COSMIC |
6 | g.167341261C>A | CA366424390 | TTLL2 | c.1361C>A (p.Pro454His) c.1142C>A (p.Pro381His) | |
6 | g.167341261C>G | CA366424391 | TTLL2 | c.1361C>G (p.Pro454Arg) c.1142C>G (p.Pro381Arg) | |
6 | g.167341261C>T | CA366424392 | TTLL2 | c.1361C>T (p.Pro454Leu) c.1142C>T (p.Pro381Leu) | |
6 | g.167341262T>A | CA453305060 | TTLL2 | c.1362T>A (p.Pro454=) c.1143T>A (p.Pro381=) | |
6 | g.167341262T>C | CA453305061 | TTLL2 | c.1362T>C (p.Pro454=) c.1143T>C (p.Pro381=) | |
6 | g.167341262T>G | CA453305062 | TTLL2 | c.1362T>G (p.Pro454=) c.1143T>G (p.Pro381=) | |
6 | g.167341263T>A | CA366424393 | TTLL2 | c.1363T>A (p.Tyr455Asn) c.1144T>A (p.Tyr382Asn) | |
6 | g.167341263T>C | CA366424395 | TTLL2 | c.1363T>C (p.Tyr455His) c.1144T>C (p.Tyr382His) | |
6 | g.167341263T>G | CA366424394 | TTLL2 | c.1363T>G (p.Tyr455Asp) c.1144T>G (p.Tyr382Asp) | |
6 | g.167341264A>C | CA366424396 | TTLL2 | c.1364A>C (p.Tyr455Ser) c.1145A>C (p.Tyr382Ser) | |
6 | g.167341264A>G | CA366424397 | TTLL2 | c.1364A>G (p.Tyr455Cys) c.1145A>G (p.Tyr382Cys) | |
6 | g.167341264A>T | CA366424398 | TTLL2 | c.1364A>T (p.Tyr455Phe) c.1145A>T (p.Tyr382Phe) | |
6 | g.167341265T>A | CA366424399 | TTLL2 | c.1365T>A (p.Tyr455Ter) c.1146T>A (p.Tyr382Ter) | |
6 | g.167341265T>C | CA453305064 | TTLL2 | c.1365T>C (p.Tyr455=) c.1146T>C (p.Tyr382=) | |
6 | g.167341265T>G | CA366424400 | TTLL2 | c.1365T>G (p.Tyr455Ter) c.1146T>G (p.Tyr382Ter) | |
6 | g.167341266G>A | CA366424401 | TTLL2 | c.1366G>A (p.Asp456Asn) c.1147G>A (p.Asp383Asn) | |
6 | g.167341266G>C | CA366424402 | TTLL2 | c.1366G>C (p.Asp456His) c.1147G>C (p.Asp383His) | |
6 | g.167341266G= | CA1680342030 | TTLL2 | c.1366G= (p.Asp456=) c.1147G= (p.Asp383=) | |
6 | g.167341266G>T | CA366424403 | TTLL2 | c.1366G>T (p.Asp456Tyr) c.1147G>T (p.Asp383Tyr) | dbSNP gnomAD v4 |
6 | g.167341267A= | CA1680342031 | TTLL2 | c.1367A= (p.Asp456=) c.1148A= (p.Asp383=) | |
6 | g.167341267A>C | CA366424404 | TTLL2 | c.1367A>C (p.Asp456Ala) c.1148A>C (p.Asp383Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341267A>G | CA366424405 | TTLL2 | c.1367A>G (p.Asp456Gly) c.1148A>G (p.Asp383Gly) | |
6 | g.167341267A>T | CA366424406 | TTLL2 | c.1367A>T (p.Asp456Val) c.1148A>T (p.Asp383Val) | |
6 | g.167341267_167341271del | CA453305065 | TTLL2 | c.1367_1371del (p.Asp456AlafsTer12) c.1148_1152del (p.Asp383AlafsTer12) | |
6 | g.167341268T>A | CA366424408 | TTLL2 | c.1368T>A (p.Asp456Glu) c.1149T>A (p.Asp383Glu) | |
6 | g.167341268T>C | CA453305067 | TTLL2 | c.1368T>C (p.Asp456=) c.1149T>C (p.Asp383=) | |
6 | g.167341268T>G | CA366424407 | TTLL2 | c.1368T>G (p.Asp456Glu) c.1149T>G (p.Asp383Glu) | |
6 | g.167341269T>A | CA366424409 | TTLL2 | c.1369T>A (p.Ser457Thr) c.1150T>A (p.Ser384Thr) | |
6 | g.167341269T>C | CA366424411 | TTLL2 | c.1369T>C (p.Ser457Pro) c.1150T>C (p.Ser384Pro) | |
6 | g.167341269T>G | CA366424410 | TTLL2 | c.1369T>G (p.Ser457Ala) c.1150T>G (p.Ser384Ala) | |
6 | g.167341270C>A | CA366424412 | TTLL2 | c.1370C>A (p.Ser457Tyr) c.1151C>A (p.Ser384Tyr) | COSMIC |
6 | g.167341270C= | CA1680342032 | TTLL2 | c.1370C= (p.Ser457=) c.1151C= (p.Ser384=) | |
6 | g.167341270C>G | CA366424414 | TTLL2 | c.1370C>G (p.Ser457Cys) c.1151C>G (p.Ser384Cys) | |
6 | g.167341270C>T | CA366424413 | TTLL2 | c.1370C>T (p.Ser457Phe) c.1151C>T (p.Ser384Phe) | dbSNP |
6 | g.167341271T>A | CA453305071 | TTLL2 | c.1371T>A (p.Ser457=) c.1152T>A (p.Ser384=) | gnomAD v4 |
6 | g.167341271T>C | CA453305073 | TTLL2 | c.1371T>C (p.Ser457=) c.1152T>C (p.Ser384=) | |
6 | g.167341271T>G | CA453305075 | TTLL2 | c.1371T>G (p.Ser457=) c.1152T>G (p.Ser384=) | |
6 | g.167341272C>A | CA366424415 | TTLL2 | c.1372C>A (p.Leu458Ile) c.1153C>A (p.Leu385Ile) | |
6 | g.167341272C= | CA1680342033 | TTLL2 | c.1372C= (p.Leu458=) c.1153C= (p.Leu385=) | |
6 | g.167341272C>G | CA4097523 | TTLL2 | c.1372C>G (p.Leu458Val) c.1153C>G (p.Leu385Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341272C>T | CA366424416 | TTLL2 | c.1372C>T (p.Leu458Phe) c.1153C>T (p.Leu385Phe) | |
6 | g.167341273T>A | CA366424417 | TTLL2 | c.1373T>A (p.Leu458His) c.1154T>A (p.Leu385His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341273T>C | CA366424418 | TTLL2 | c.1373T>C (p.Leu458Pro) c.1154T>C (p.Leu385Pro) | |
6 | g.167341273T>G | CA366424419 | TTLL2 | c.1373T>G (p.Leu458Arg) c.1154T>G (p.Leu385Arg) | |
6 | g.167341273T= | CA1680342034 | TTLL2 | c.1373T= (p.Leu458=) c.1154T= (p.Leu385=) | |
6 | g.167341274T>A | CA453305077 | TTLL2 | c.1374T>A (p.Leu458=) c.1155T>A (p.Leu385=) | |
6 | g.167341274T>C | CA453305076 | TTLL2 | c.1374T>C (p.Leu458=) c.1155T>C (p.Leu385=) | |
6 | g.167341274T>G | CA453305079 | TTLL2 | c.1374T>G (p.Leu458=) c.1155T>G (p.Leu385=) | |
6 | g.167341275T>A | CA366424420 | TTLL2 | c.1375T>A (p.Ser459Thr) c.1156T>A (p.Ser386Thr) | gnomAD v4 |
6 | g.167341275T>C | CA4097525 | TTLL2 | c.1375T>C (p.Ser459Pro) c.1156T>C (p.Ser386Pro) | dbSNP ExAC gnomAD v2 |
6 | g.167341275T>G | CA366424421 | TTLL2 | c.1375T>G (p.Ser459Ala) c.1156T>G (p.Ser386Ala) | |
6 | g.167341275T= | CA1680342035 | TTLL2 | c.1375T= (p.Ser459=) c.1156T= (p.Ser386=) | |
6 | g.167341275_167341276delinsTC | CA1680342036 | TTLL2 | c.1375_1376delinsTC (p.Ser459=) c.1156_1157delinsTC (p.Ser386=) | |
6 | g.167341276del | CA4097524 | TTLL2 | c.1376del (p.Ser459CysfsTer18) c.1157del (p.Ser386CysfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341276C>A | CA366424422 | TTLL2 | c.1376C>A (p.Ser459Ter) c.1157C>A (p.Ser386Ter) | |
6 | g.167341276C= | CA1680342037 | TTLL2 | c.1376C= (p.Ser459=) c.1157C= (p.Ser386=) | |
6 | g.167341276C>G | CA366424423 | TTLL2 | c.1376C>G (p.Ser459Trp) c.1157C>G (p.Ser386Trp) | |
6 | g.167341276C>T | CA4097526 | TTLL2 | c.1376C>T (p.Ser459Leu) c.1157C>T (p.Ser386Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341277G>A | CA4097527 | TTLL2 | c.1377G>A (p.Ser459=) c.1158G>A (p.Ser386=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341277G>C | CA453305081 | TTLL2 | c.1377G>C (p.Ser459=) c.1158G>C (p.Ser386=) | |
6 | g.167341277G= | CA1680342038 | TTLL2 | c.1377G= (p.Ser459=) c.1158G= (p.Ser386=) | |
6 | g.167341277G>T | CA453305082 | TTLL2 | c.1377G>T (p.Ser459=) c.1158G>T (p.Ser386=) | gnomAD v4 |
6 | g.167341278T>A | CA366424424 | TTLL2 | c.1378T>A (p.Phe460Ile) c.1159T>A (p.Phe387Ile) | |
6 | g.167341278T>C | CA366424425 | TTLL2 | c.1378T>C (p.Phe460Leu) c.1159T>C (p.Phe387Leu) | |
6 | g.167341278T>G | CA366424426 | TTLL2 | c.1378T>G (p.Phe460Val) c.1159T>G (p.Phe387Val) | |
6 | g.167341279T>A | CA366424427 | TTLL2 | c.1379T>A (p.Phe460Tyr) c.1160T>A (p.Phe387Tyr) | |
6 | g.167341279T>C | CA366424428 | TTLL2 | c.1379T>C (p.Phe460Ser) c.1160T>C (p.Phe387Ser) | |
6 | g.167341279T>G | CA366424429 | TTLL2 | c.1379T>G (p.Phe460Cys) c.1160T>G (p.Phe387Cys) | |
6 | g.167341280C>A | CA366424430 | TTLL2 | c.1380C>A (p.Phe460Leu) c.1161C>A (p.Phe387Leu) | |
6 | g.167341280C>G | CA366424431 | TTLL2 | c.1380C>G (p.Phe460Leu) c.1161C>G (p.Phe387Leu) | |
6 | g.167341280C>T | CA453305083 | TTLL2 | c.1380C>T (p.Phe460=) c.1161C>T (p.Phe387=) | |
6 | g.167341281A>C | CA366424432 | TTLL2 | c.1381A>C (p.Thr461Pro) c.1162A>C (p.Thr388Pro) | |
6 | g.167341281A>G | CA366424433 | TTLL2 | c.1381A>G (p.Thr461Ala) c.1162A>G (p.Thr388Ala) | |
6 | g.167341281A>T | CA366424434 | TTLL2 | c.1381A>T (p.Thr461Ser) c.1162A>T (p.Thr388Ser) | |
6 | g.167341282C>A | CA366424437 | TTLL2 | c.1382C>A (p.Thr461Lys) c.1163C>A (p.Thr388Lys) | |
6 | g.167341282C= | CA1680342039 | TTLL2 | c.1382C= (p.Thr461=) c.1163C= (p.Thr388=) | |
6 | g.167341282C>G | CA366424436 | TTLL2 | c.1382C>G (p.Thr461Arg) c.1163C>G (p.Thr388Arg) | dbSNP |
6 | g.167341282C>T | CA366424435 | TTLL2 | c.1382C>T (p.Thr461Ile) c.1163C>T (p.Thr388Ile) | gnomAD v4 |
6 | g.167341283A>C | CA453305084 | TTLL2 | c.1383A>C (p.Thr461=) c.1164A>C (p.Thr388=) | |
6 | g.167341283A>G | CA453305085 | TTLL2 | c.1383A>G (p.Thr461=) c.1164A>G (p.Thr388=) | |
6 | g.167341283A>T | CA453305086 | TTLL2 | c.1383A>T (p.Thr461=) c.1164A>T (p.Thr388=) | |
6 | g.167341284A>C | CA366424438 | TTLL2 | c.1384A>C (p.Ser462Arg) c.1165A>C (p.Ser389Arg) | |
6 | g.167341284A>G | CA366424439 | TTLL2 | c.1384A>G (p.Ser462Gly) c.1165A>G (p.Ser389Gly) | gnomAD v4 |
6 | g.167341284A>T | CA366424440 | TTLL2 | c.1384A>T (p.Ser462Cys) c.1165A>T (p.Ser389Cys) | |
6 | g.167341285G>A | CA366424441 | TTLL2 | c.1385G>A (p.Ser462Asn) c.1166G>A (p.Ser389Asn) | |
6 | g.167341285G>C | CA366424442 | TTLL2 | c.1385G>C (p.Ser462Thr) c.1166G>C (p.Ser389Thr) | |
6 | g.167341285G>T | CA366424443 | TTLL2 | c.1385G>T (p.Ser462Ile) c.1166G>T (p.Ser389Ile) | |
6 | g.167341286C>A | CA366424444 | TTLL2 | c.1386C>A (p.Ser462Arg) c.1167C>A (p.Ser389Arg) | |
6 | g.167341286C= | CA1680342040 | TTLL2 | c.1386C= (p.Ser462=) c.1167C= (p.Ser389=) | |
6 | g.167341286C>G | CA366424445 | TTLL2 | c.1386C>G (p.Ser462Arg) c.1167C>G (p.Ser389Arg) | |
6 | g.167341286C>T | CA453305087 | TTLL2 | c.1386C>T (p.Ser462=) c.1167C>T (p.Ser389=) | dbSNP gnomAD v4 |
6 | g.167341287A= | CA1680342041 | TTLL2 | c.1387A= (p.Arg463=) c.1168A= (p.Arg390=) | |
6 | g.167341287A>C | CA453305088 | TTLL2 | c.1387A>C (p.Arg463=) c.1168A>C (p.Arg390=) | dbSNP |
6 | g.167341287A>G | CA366424446 | TTLL2 | c.1387A>G (p.Arg463Gly) c.1168A>G (p.Arg390Gly) | |
6 | g.167341287A>T | CA366424447 | TTLL2 | c.1387A>T (p.Arg463Ter) c.1168A>T (p.Arg390Ter) | |
6 | g.167341288G>A | CA366424448 | TTLL2 | c.1388G>A (p.Arg463Lys) c.1169G>A (p.Arg390Lys) | |
6 | g.167341288G>C | CA366424449 | TTLL2 | c.1388G>C (p.Arg463Thr) c.1169G>C (p.Arg390Thr) | |
6 | g.167341288G= | CA1680342042 | TTLL2 | c.1388G= (p.Arg463=) c.1169G= (p.Arg390=) | |
6 | g.167341288G>T | CA4097528 | TTLL2 | c.1388G>T (p.Arg463Ile) c.1169G>T (p.Arg390Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341289A= | CA1680342043 | TTLL2 | c.1389A= (p.Arg463=) c.1170A= (p.Arg390=) | |
6 | g.167341289A>C | CA366424451 | TTLL2 | c.1389A>C (p.Arg463Ser) c.1170A>C (p.Arg390Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341289A>G | CA453305089 | TTLL2 | c.1389A>G (p.Arg463=) c.1170A>G (p.Arg390=) | |
6 | g.167341289A>T | CA366424450 | TTLL2 | c.1389A>T (p.Arg463Ser) c.1170A>T (p.Arg390Ser) | |
6 | g.167341290A= | CA1680342044 | TTLL2 | c.1390A= (p.Met464=) c.1171A= (p.Met391=) | |
6 | g.167341290A>C | CA4097529 | TTLL2 | c.1390A>C (p.Met464Leu) c.1171A>C (p.Met391Leu) | dbSNP ExAC gnomAD v2 |
6 | g.167341290A>G | CA4097530 | TTLL2 | c.1390A>G (p.Met464Val) c.1171A>G (p.Met391Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341290A>T | CA366424452 | TTLL2 | c.1390A>T (p.Met464Leu) c.1171A>T (p.Met391Leu) | |
6 | g.167341291T>A | CA366424453 | TTLL2 | c.1391T>A (p.Met464Lys) c.1172T>A (p.Met391Lys) | |
6 | g.167341291T>C | CA366424454 | TTLL2 | c.1391T>C (p.Met464Thr) c.1172T>C (p.Met391Thr) | gnomAD v4 |
6 | g.167341291T>G | CA366424455 | TTLL2 | c.1391T>G (p.Met464Arg) c.1172T>G (p.Met391Arg) | dbSNP |
6 | g.167341291T= | CA1680342045 | TTLL2 | c.1391T= (p.Met464=) c.1172T= (p.Met391=) | |
6 | g.167341292G>A | CA366424456 | TTLL2 | c.1392G>A (p.Met464Ile) c.1173G>A (p.Met391Ile) | dbSNP gnomAD v4 |
6 | g.167341292G>C | CA366424457 | TTLL2 | c.1392G>C (p.Met464Ile) c.1173G>C (p.Met391Ile) | |
6 | g.167341292G= | CA1680342046 | TTLL2 | c.1392G= (p.Met464=) c.1173G= (p.Met391=) | |
6 | g.167341292G>T | CA366424458 | TTLL2 | c.1392G>T (p.Met464Ile) c.1173G>T (p.Met391Ile) | gnomAD v4 |
6 | g.167341293T>A | CA366424459 | TTLL2 | c.1393T>A (p.Tyr465Asn) c.1174T>A (p.Tyr392Asn) | |
6 | g.167341293T>C | CA366424460 | TTLL2 | c.1393T>C (p.Tyr465His) c.1174T>C (p.Tyr392His) | gnomAD v4 |
6 | g.167341293T>G | CA366424461 | TTLL2 | c.1393T>G (p.Tyr465Asp) c.1174T>G (p.Tyr392Asp) | |
6 | g.167341294A>C | CA366424464 | TTLL2 | c.1394A>C (p.Tyr465Ser) c.1175A>C (p.Tyr392Ser) | |
6 | g.167341294A>G | CA366424463 | TTLL2 | c.1394A>G (p.Tyr465Cys) c.1175A>G (p.Tyr392Cys) | |
6 | g.167341294A>T | CA366424462 | TTLL2 | c.1394A>T (p.Tyr465Phe) c.1175A>T (p.Tyr392Phe) | |
6 | g.167341295C>A | CA366424465 | TTLL2 | c.1395C>A (p.Tyr465Ter) c.1176C>A (p.Tyr392Ter) | |
6 | g.167341295C= | CA1680342047 | TTLL2 | c.1395C= (p.Tyr465=) c.1176C= (p.Tyr392=) | |
6 | g.167341295C>G | CA366424466 | TTLL2 | c.1395C>G (p.Tyr465Ter) c.1176C>G (p.Tyr392Ter) | |
6 | g.167341295C>T | CA4097531 | TTLL2 | c.1395C>T (p.Tyr465=) c.1176C>T (p.Tyr392=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341296A= | CA1680342048 | TTLL2 | c.1396A= (p.Asn466=) c.1177A= (p.Asn393=) | |
6 | g.167341296A>C | CA366424467 | TTLL2 | c.1396A>C (p.Asn466His) c.1177A>C (p.Asn393His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341296A>G | CA366424468 | TTLL2 | c.1396A>G (p.Asn466Asp) c.1177A>G (p.Asn393Asp) | dbSNP |
6 | g.167341296A>T | CA366424469 | TTLL2 | c.1396A>T (p.Asn466Tyr) c.1177A>T (p.Asn393Tyr) | |
6 | g.167341297A>C | CA366424470 | TTLL2 | c.1397A>C (p.Asn466Thr) c.1178A>C (p.Asn393Thr) | |
6 | g.167341297A>G | CA366424471 | TTLL2 | c.1397A>G (p.Asn466Ser) c.1178A>G (p.Asn393Ser) | |
6 | g.167341297A>T | CA366424472 | TTLL2 | c.1397A>T (p.Asn466Ile) c.1178A>T (p.Asn393Ile) | |
6 | g.167341298C>A | CA366424473 | TTLL2 | c.1398C>A (p.Asn466Lys) c.1179C>A (p.Asn393Lys) | |
6 | g.167341298C= | CA1680342049 | TTLL2 | c.1398C= (p.Asn466=) c.1179C= (p.Asn393=) | |
6 | g.167341298C>G | CA366424474 | TTLL2 | c.1398C>G (p.Asn466Lys) c.1179C>G (p.Asn393Lys) | |
6 | g.167341298C>T | CA4097532 | TTLL2 | c.1398C>T (p.Asn466=) c.1179C>T (p.Asn393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341299G>A | CA4097533 | TTLL2 | c.1399G>A (p.Glu467Lys) c.1180G>A (p.Glu394Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341299G>C | CA366424475 | TTLL2 | c.1399G>C (p.Glu467Gln) c.1180G>C (p.Glu394Gln) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341299G= | CA1680342050 | TTLL2 | c.1399G= (p.Glu467=) c.1180G= (p.Glu394=) | |
6 | g.167341299G>T | CA366424476 | TTLL2 | c.1399G>T (p.Glu467Ter) c.1180G>T (p.Glu394Ter) | |
6 | g.167341300A>C | CA366424477 | TTLL2 | c.1400A>C (p.Glu467Ala) c.1181A>C (p.Glu394Ala) | |
6 | g.167341300A>G | CA366424479 | TTLL2 | c.1400A>G (p.Glu467Gly) c.1181A>G (p.Glu394Gly) | |
6 | g.167341300A>T | CA366424478 | TTLL2 | c.1400A>T (p.Glu467Val) c.1181A>T (p.Glu394Val) | |
6 | g.167341301G>A | CA453305090 | TTLL2 | c.1401G>A (p.Glu467=) c.1182G>A (p.Glu394=) | gnomAD v4 |
6 | g.167341301G>C | CA366424480 | TTLL2 | c.1401G>C (p.Glu467Asp) c.1182G>C (p.Glu394Asp) | |
6 | g.167341301G>T | CA366424481 | TTLL2 | c.1401G>T (p.Glu467Asp) c.1182G>T (p.Glu394Asp) | |
6 | g.167341302G>A | CA366424482 | TTLL2 | c.1402G>A (p.Asp468Asn) c.1183G>A (p.Asp395Asn) | dbSNP |
6 | g.167341302G>C | CA366424483 | TTLL2 | c.1402G>C (p.Asp468His) c.1183G>C (p.Asp395His) | |
6 | g.167341302G= | CA1680342051 | TTLL2 | c.1402G= (p.Asp468=) c.1183G= (p.Asp395=) | |
6 | g.167341302G>T | CA366424484 | TTLL2 | c.1402G>T (p.Asp468Tyr) c.1183G>T (p.Asp395Tyr) | dbSNP |
6 | g.167341303A>C | CA366424485 | TTLL2 | c.1403A>C (p.Asp468Ala) c.1184A>C (p.Asp395Ala) | |
6 | g.167341303A>G | CA366424486 | TTLL2 | c.1403A>G (p.Asp468Gly) c.1184A>G (p.Asp395Gly) | |
6 | g.167341303A>T | CA366424487 | TTLL2 | c.1403A>T (p.Asp468Val) c.1184A>T (p.Asp395Val) | |
6 | g.167341304T>A | CA366424488 | TTLL2 | c.1404T>A (p.Asp468Glu) c.1185T>A (p.Asp395Glu) | |
6 | g.167341304T>C | CA453305091 | TTLL2 | c.1404T>C (p.Asp468=) c.1185T>C (p.Asp395=) | |
6 | g.167341304T>G | CA366424489 | TTLL2 | c.1404T>G (p.Asp468Glu) c.1185T>G (p.Asp395Glu) | |
6 | g.167341305G>A | CA366424491 | TTLL2 | c.1405G>A (p.Asp469Asn) c.1186G>A (p.Asp396Asn) | |
6 | g.167341305G>C | CA366424492 | TTLL2 | c.1405G>C (p.Asp469His) c.1186G>C (p.Asp396His) | |
6 | g.167341305G>T | CA366424490 | TTLL2 | c.1405G>T (p.Asp469Tyr) c.1186G>T (p.Asp396Tyr) | gnomAD v4 |
6 | g.167341306A>C | CA366424493 | TTLL2 | c.1406A>C (p.Asp469Ala) c.1187A>C (p.Asp396Ala) | |
6 | g.167341306A>G | CA366424494 | TTLL2 | c.1406A>G (p.Asp469Gly) c.1187A>G (p.Asp396Gly) | |
6 | g.167341306A>T | CA366424495 | TTLL2 | c.1406A>T (p.Asp469Val) c.1187A>T (p.Asp396Val) | |
6 | g.167341306_167341308delinsACT | CA1680342052 | TTLL2 | c.1406_1408delinsACT (p.Asp469=) c.1187_1189delinsACT (p.Asp396=) | |
6 | g.167341307C>A | CA366424496 | TTLL2 | c.1407C>A (p.Asp469Glu) c.1188C>A (p.Asp396Glu) | |
6 | g.167341307C>G | CA366424497 | TTLL2 | c.1407C>G (p.Asp469Glu) c.1188C>G (p.Asp396Glu) | |
6 | g.167341307C>T | CA453305092 | TTLL2 | c.1407C>T (p.Asp469=) c.1188C>T (p.Asp396=) | |
6 | g.167341309_167341310del | CA1680342053 | TTLL2 | c.1409_1410del (p.Ser470CysfsTer11) c.1190_1191del (p.Ser397CysfsTer11) | dbSNP gnomAD v4 |
6 | g.167341308T>A | CA366424500 | TTLL2 | c.1408T>A (p.Ser470Thr) c.1189T>A (p.Ser397Thr) | |
6 | g.167341308T>C | CA366424499 | TTLL2 | c.1408T>C (p.Ser470Pro) c.1189T>C (p.Ser397Pro) | gnomAD v4 |
6 | g.167341308T>G | CA366424498 | TTLL2 | c.1408T>G (p.Ser470Ala) c.1189T>G (p.Ser397Ala) | |
6 | g.167341309C>A | CA366424501 | TTLL2 | c.1409C>A (p.Ser470Tyr) c.1190C>A (p.Ser397Tyr) | |
6 | g.167341309C>G | CA366424502 | TTLL2 | c.1409C>G (p.Ser470Cys) c.1190C>G (p.Ser397Cys) | |
6 | g.167341309C>T | CA366424503 | TTLL2 | c.1409C>T (p.Ser470Phe) c.1190C>T (p.Ser397Phe) |