Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
6 | g.167341310T>A | CA453305094 | TTLL2 | c.1410T>A (p.Ser470=) c.1191T>A (p.Ser397=) | |
6 | g.167341310T>C | CA453305095 | TTLL2 | c.1410T>C (p.Ser470=) c.1191T>C (p.Ser397=) | |
6 | g.167341310T>G | CA453305096 | TTLL2 | c.1410T>G (p.Ser470=) c.1191T>G (p.Ser397=) | |
6 | g.167341311G>A | CA366424504 | TTLL2 | c.1411G>A (p.Val471Met) c.1192G>A (p.Val398Met) | |
6 | g.167341311G>C | CA366424505 | TTLL2 | c.1411G>C (p.Val471Leu) c.1192G>C (p.Val398Leu) | |
6 | g.167341311G>T | CA366424506 | TTLL2 | c.1411G>T (p.Val471Leu) c.1192G>T (p.Val398Leu) | |
6 | g.167341312T>A | CA366424507 | TTLL2 | c.1412T>A (p.Val471Glu) c.1193T>A (p.Val398Glu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341312T>C | CA4097534 | TTLL2 | c.1412T>C (p.Val471Ala) c.1193T>C (p.Val398Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341312T>G | CA366424508 | TTLL2 | c.1412T>G (p.Val471Gly) c.1193T>G (p.Val398Gly) | |
6 | g.167341312T= | CA1680342054 | TTLL2 | c.1412T= (p.Val471=) c.1193T= (p.Val398=) | |
6 | g.167341313G>A | CA453305097 | TTLL2 | c.1413G>A (p.Val471=) c.1194G>A (p.Val398=) | dbSNP gnomAD v4 COSMIC |
6 | g.167341313G>C | CA453305098 | TTLL2 | c.1413G>C (p.Val471=) c.1194G>C (p.Val398=) | |
6 | g.167341313G= | CA1680342055 | TTLL2 | c.1413G= (p.Val471=) c.1194G= (p.Val398=) | |
6 | g.167341313G>T | CA453305099 | TTLL2 | c.1413G>T (p.Val471=) c.1194G>T (p.Val398=) | dbSNP gnomAD v4 |
6 | g.167341314G>A | CA366424509 | TTLL2 | c.1414G>A (p.Val472Met) c.1195G>A (p.Val399Met) | |
6 | g.167341314G>C | CA366424510 | TTLL2 | c.1414G>C (p.Val472Leu) c.1195G>C (p.Val399Leu) | |
6 | g.167341314G>T | CA366424511 | TTLL2 | c.1414G>T (p.Val472Leu) c.1195G>T (p.Val399Leu) | gnomAD v4 |
6 | g.167341315T>A | CA366424512 | TTLL2 | c.1415T>A (p.Val472Glu) c.1196T>A (p.Val399Glu) | |
6 | g.167341315T>C | CA366424513 | TTLL2 | c.1415T>C (p.Val472Ala) c.1196T>C (p.Val399Ala) | |
6 | g.167341315T>G | CA366424514 | TTLL2 | c.1415T>G (p.Val472Gly) c.1196T>G (p.Val399Gly) | |
6 | g.167341316G>A | CA453305101 | TTLL2 | c.1416G>A (p.Val472=) c.1197G>A (p.Val399=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341316G>C | CA453305102 | TTLL2 | c.1416G>C (p.Val472=) c.1197G>C (p.Val399=) | dbSNP |
6 | g.167341316G= | CA1680342056 | TTLL2 | c.1416G= (p.Val472=) c.1197G= (p.Val399=) | |
6 | g.167341316G>T | CA4097535 | TTLL2 | c.1416G>T (p.Val472=) c.1197G>T (p.Val399=) | dbSNP ExAC gnomAD v2 |
6 | g.167341317G>A | CA366424515 | TTLL2 | c.1417G>A (p.Glu473Lys) c.1198G>A (p.Glu400Lys) | |
6 | g.167341317G>C | CA366424516 | TTLL2 | c.1417G>C (p.Glu473Gln) c.1198G>C (p.Glu400Gln) | dbSNP |
6 | g.167341317G= | CA1680342057 | TTLL2 | c.1417G= (p.Glu473=) c.1198G= (p.Glu400=) | |
6 | g.167341317G>T | CA366424517 | TTLL2 | c.1417G>T (p.Glu473Ter) c.1198G>T (p.Glu400Ter) | |
6 | g.167341318A>C | CA366424518 | TTLL2 | c.1418A>C (p.Glu473Ala) c.1199A>C (p.Glu400Ala) | |
6 | g.167341318A>G | CA366424519 | TTLL2 | c.1418A>G (p.Glu473Gly) c.1199A>G (p.Glu400Gly) | |
6 | g.167341318A>T | CA366424520 | TTLL2 | c.1418A>T (p.Glu473Val) c.1199A>T (p.Glu400Val) | |
6 | g.167341319G>A | CA453305103 | TTLL2 | c.1419G>A (p.Glu473=) c.1200G>A (p.Glu400=) | gnomAD v4 |
6 | g.167341319G>C | CA366424521 | TTLL2 | c.1419G>C (p.Glu473Asp) c.1200G>C (p.Glu400Asp) | |
6 | g.167341319G>T | CA366424522 | TTLL2 | c.1419G>T (p.Glu473Asp) c.1200G>T (p.Glu400Asp) | |
6 | g.167341320A>C | CA366424523 | TTLL2 | c.1420A>C (p.Lys474Gln) c.1201A>C (p.Lys401Gln) | |
6 | g.167341320A>G | CA366424524 | TTLL2 | c.1420A>G (p.Lys474Glu) c.1201A>G (p.Lys401Glu) | |
6 | g.167341320A>T | CA366424525 | TTLL2 | c.1420A>T (p.Lys474Ter) c.1201A>T (p.Lys401Ter) | |
6 | g.167341321A>C | CA366424526 | TTLL2 | c.1421A>C (p.Lys474Thr) c.1202A>C (p.Lys401Thr) | |
6 | g.167341321A>G | CA366424527 | TTLL2 | c.1421A>G (p.Lys474Arg) c.1202A>G (p.Lys401Arg) | |
6 | g.167341321A>T | CA366424528 | TTLL2 | c.1421A>T (p.Lys474Ile) c.1202A>T (p.Lys401Ile) | |
6 | g.167341322A>C | CA366424529 | TTLL2 | c.1422A>C (p.Lys474Asn) c.1203A>C (p.Lys401Asn) | |
6 | g.167341322A>G | CA453305104 | TTLL2 | c.1422A>G (p.Lys474=) c.1203A>G (p.Lys401=) | |
6 | g.167341322A>T | CA366424530 | TTLL2 | c.1422A>T (p.Lys474Asn) c.1203A>T (p.Lys401Asn) | |
6 | g.167341323G>A | CA366424531 | TTLL2 | c.1423G>A (p.Ala475Thr) c.1204G>A (p.Ala402Thr) | gnomAD v4 |
6 | g.167341323G>C | CA366424533 | TTLL2 | c.1423G>C (p.Ala475Pro) c.1204G>C (p.Ala402Pro) | dbSNP |
6 | g.167341323G>T | CA366424532 | TTLL2 | c.1423G>T (p.Ala475Ser) c.1204G>T (p.Ala402Ser) | |
6 | g.167341324C>A | CA366424534 | TTLL2 | c.1424C>A (p.Ala475Asp) c.1205C>A (p.Ala402Asp) | |
6 | g.167341324C>G | CA366424535 | TTLL2 | c.1424C>G (p.Ala475Gly) c.1205C>G (p.Ala402Gly) | |
6 | g.167341324C>T | CA366424536 | TTLL2 | c.1424C>T (p.Ala475Val) c.1205C>T (p.Ala402Val) | gnomAD v4 |
6 | g.167341325T>A | CA453305105 | TTLL2 | c.1425T>A (p.Ala475=) c.1206T>A (p.Ala402=) | |
6 | g.167341325T>C | CA151970354 | TTLL2 | c.1425T>C (p.Ala475=) c.1206T>C (p.Ala402=) | dbSNP |
6 | g.167341325T>G | CA453305106 | TTLL2 | c.1425T>G (p.Ala475=) c.1206T>G (p.Ala402=) | |
6 | g.167341325T= | CA1680342058 | TTLL2 | c.1425T= (p.Ala475=) c.1206T= (p.Ala402=) | |
6 | g.167341326G>A | CA366424537 | TTLL2 | c.1426G>A (p.Val476Met) c.1207G>A (p.Val403Met) | |
6 | g.167341326G>C | CA366424539 | TTLL2 | c.1426G>C (p.Val476Leu) c.1207G>C (p.Val403Leu) | |
6 | g.167341326G>T | CA366424538 | TTLL2 | c.1426G>T (p.Val476Leu) c.1207G>T (p.Val403Leu) | |
6 | g.167341327T>A | CA366424540 | TTLL2 | c.1427T>A (p.Val476Glu) c.1208T>A (p.Val403Glu) | |
6 | g.167341327T>C | CA366424541 | TTLL2 | c.1427T>C (p.Val476Ala) c.1208T>C (p.Val403Ala) | |
6 | g.167341327T>G | CA366424542 | TTLL2 | c.1427T>G (p.Val476Gly) c.1208T>G (p.Val403Gly) | |
6 | g.167341327dup | CA2681211345 | TTLL2 | c.1427dup (p.Ser477GlufsTer5) c.1208dup (p.Ser404GlufsTer5) | gnomAD v4 |
6 | g.167341328G>A | CA453305107 | TTLL2 | c.1428G>A (p.Val476=) c.1209G>A (p.Val403=) | |
6 | g.167341328G>C | CA4097536 | TTLL2 | c.1428G>C (p.Val476=) c.1209G>C (p.Val403=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341328G= | CA1680342059 | TTLL2 | c.1428G= (p.Val476=) c.1209G= (p.Val403=) | |
6 | g.167341328G>T | CA453305108 | TTLL2 | c.1428G>T (p.Val476=) c.1209G>T (p.Val403=) | |
6 | g.167341329A>C | CA366424543 | TTLL2 | c.1429A>C (p.Ser477Arg) c.1210A>C (p.Ser404Arg) | |
6 | g.167341329A>G | CA366424544 | TTLL2 | c.1429A>G (p.Ser477Gly) c.1210A>G (p.Ser404Gly) | |
6 | g.167341329A>T | CA366424545 | TTLL2 | c.1429A>T (p.Ser477Cys) c.1210A>T (p.Ser404Cys) | |
6 | g.167341330G>A | CA366424546 | TTLL2 | c.1430G>A (p.Ser477Asn) c.1211G>A (p.Ser404Asn) | |
6 | g.167341330G>C | CA366424547 | TTLL2 | c.1430G>C (p.Ser477Thr) c.1211G>C (p.Ser404Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341330G= | CA1680342060 | TTLL2 | c.1430G= (p.Ser477=) c.1211G= (p.Ser404=) | |
6 | g.167341330G>T | CA366424548 | TTLL2 | c.1430G>T (p.Ser477Ile) c.1211G>T (p.Ser404Ile) | |
6 | g.167341331T>A | CA366424549 | TTLL2 | c.1431T>A (p.Ser477Arg) c.1212T>A (p.Ser404Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341331T>C | CA453305109 | TTLL2 | c.1431T>C (p.Ser477=) c.1212T>C (p.Ser404=) | |
6 | g.167341331T>G | CA366424550 | TTLL2 | c.1431T>G (p.Ser477Arg) c.1212T>G (p.Ser404Arg) | |
6 | g.167341331T= | CA1680342061 | TTLL2 | c.1431T= (p.Ser477=) c.1212T= (p.Ser404=) | |
6 | g.167341332G>A | CA4097537 | TTLL2 | c.1432G>A (p.Val478Met) c.1213G>A (p.Val405Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341332G>C | CA366424551 | TTLL2 | c.1432G>C (p.Val478Leu) c.1213G>C (p.Val405Leu) | |
6 | g.167341332G= | CA1680342062 | TTLL2 | c.1432G= (p.Val478=) c.1213G= (p.Val405=) | |
6 | g.167341332G>T | CA366424552 | TTLL2 | c.1432G>T (p.Val478Leu) c.1213G>T (p.Val405Leu) | |
6 | g.167341333T>A | CA366424553 | TTLL2 | c.1433T>A (p.Val478Glu) c.1214T>A (p.Val405Glu) | |
6 | g.167341333T>C | CA366424554 | TTLL2 | c.1433T>C (p.Val478Ala) c.1214T>C (p.Val405Ala) | |
6 | g.167341333T>G | CA366424555 | TTLL2 | c.1433T>G (p.Val478Gly) c.1214T>G (p.Val405Gly) | |
6 | g.167341334G>A | CA453305110 | TTLL2 | c.1434G>A (p.Val478=) c.1215G>A (p.Val405=) | |
6 | g.167341334G>C | CA453305111 | TTLL2 | c.1434G>C (p.Val478=) c.1215G>C (p.Val405=) | |
6 | g.167341334G>T | CA453305112 | TTLL2 | c.1434G>T (p.Val478=) c.1215G>T (p.Val405=) | |
6 | g.167341335C>A | CA366424556 | TTLL2 | c.1435C>A (p.Arg479Ser) c.1216C>A (p.Arg406Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341335C= | CA1680342063 | TTLL2 | c.1435C= (p.Arg479=) c.1216C= (p.Arg406=) | |
6 | g.167341335C>G | CA151970369 | TTLL2 | c.1435C>G (p.Arg479Gly) c.1216C>G (p.Arg406Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341335C>T | CA4097538 | TTLL2 | c.1435C>T (p.Arg479Cys) c.1216C>T (p.Arg406Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341336G>A | CA4097539 | TTLL2 | c.1436G>A (p.Arg479His) c.1217G>A (p.Arg406His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341336G>C | CA366424558 | TTLL2 | c.1436G>C (p.Arg479Pro) c.1217G>C (p.Arg406Pro) | |
6 | g.167341336G= | CA1680342064 | TTLL2 | c.1436G= (p.Arg479=) c.1217G= (p.Arg406=) | |
6 | g.167341336G>T | CA366424557 | TTLL2 | c.1436G>T (p.Arg479Leu) c.1217G>T (p.Arg406Leu) | |
6 | g.167341337T>A | CA453305116 | TTLL2 | c.1437T>A (p.Arg479=) c.1218T>A (p.Arg406=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341337T>C | CA453305115 | TTLL2 | c.1437T>C (p.Arg479=) c.1218T>C (p.Arg406=) | gnomAD v4 |
6 | g.167341337T>G | CA453305114 | TTLL2 | c.1437T>G (p.Arg479=) c.1218T>G (p.Arg406=) | |
6 | g.167341337T= | CA1680342065 | TTLL2 | c.1437T= (p.Arg479=) c.1218T= (p.Arg406=) | |
6 | g.167341338C>A | CA366424559 | TTLL2 | c.1438C>A (p.Pro480Thr) c.1219C>A (p.Pro407Thr) | |
6 | g.167341338C>G | CA366424560 | TTLL2 | c.1438C>G (p.Pro480Ala) c.1219C>G (p.Pro407Ala) | |
6 | g.167341338C>T | CA366424561 | TTLL2 | c.1438C>T (p.Pro480Ser) c.1219C>T (p.Pro407Ser) | |
6 | g.167341339del | CA2681211346 | TTLL2 | c.1439del (p.Pro480LeufsTer13) c.1220del (p.Pro407LeufsTer13) | gnomAD v4 |
6 | g.167341339C>A | CA366424562 | TTLL2 | c.1439C>A (p.Pro480His) c.1220C>A (p.Pro407His) | |
6 | g.167341339C>G | CA366424563 | TTLL2 | c.1439C>G (p.Pro480Arg) c.1220C>G (p.Pro407Arg) | |
6 | g.167341339C>T | CA366424564 | TTLL2 | c.1439C>T (p.Pro480Leu) c.1220C>T (p.Pro407Leu) | |
6 | g.167341340T>A | CA453305119 | TTLL2 | c.1440T>A (p.Pro480=) c.1221T>A (p.Pro407=) | |
6 | g.167341340T>C | CA453305118 | TTLL2 | c.1440T>C (p.Pro480=) c.1221T>C (p.Pro407=) | gnomAD v4 |
6 | g.167341340T>G | CA453305117 | TTLL2 | c.1440T>G (p.Pro480=) c.1221T>G (p.Pro407=) | |
6 | g.167341341G>A | CA366424565 | TTLL2 | c.1441G>A (p.Glu481Lys) c.1222G>A (p.Glu408Lys) | dbSNP gnomAD v2 |
6 | g.167341341G>C | CA366424567 | TTLL2 | c.1441G>C (p.Glu481Gln) c.1222G>C (p.Glu408Gln) | |
6 | g.167341341G= | CA1680342066 | TTLL2 | c.1441G= (p.Glu481=) c.1222G= (p.Glu408=) | |
6 | g.167341341G>T | CA366424566 | TTLL2 | c.1441G>T (p.Glu481Ter) c.1222G>T (p.Glu408Ter) | |
6 | g.167341342A>C | CA366424568 | TTLL2 | c.1442A>C (p.Glu481Ala) c.1223A>C (p.Glu408Ala) | |
6 | g.167341342A>G | CA366424569 | TTLL2 | c.1442A>G (p.Glu481Gly) c.1223A>G (p.Glu408Gly) | |
6 | g.167341342A>T | CA366424570 | TTLL2 | c.1442A>T (p.Glu481Val) c.1223A>T (p.Glu408Val) | |
6 | g.167341343A= | CA1680342067 | TTLL2 | c.1443A= (p.Glu481=) c.1224A= (p.Glu408=) | |
6 | g.167341343A>C | CA366424571 | TTLL2 | c.1443A>C (p.Glu481Asp) c.1224A>C (p.Glu408Asp) | |
6 | g.167341343A>G | CA453305121 | TTLL2 | c.1443A>G (p.Glu481=) c.1224A>G (p.Glu408=) | dbSNP gnomAD v4 |
6 | g.167341343A>T | CA366424572 | TTLL2 | c.1443A>T (p.Glu481Asp) c.1224A>T (p.Glu408Asp) | |
6 | g.167341344G>A | CA366424573 | TTLL2 | c.1444G>A (p.Ala482Thr) c.1225G>A (p.Ala409Thr) | gnomAD v4 |
6 | g.167341344G>C | CA366424574 | TTLL2 | c.1444G>C (p.Ala482Pro) c.1225G>C (p.Ala409Pro) | |
6 | g.167341344G>T | CA366424575 | TTLL2 | c.1444G>T (p.Ala482Ser) c.1225G>T (p.Ala409Ser) | |
6 | g.167341345C>A | CA366424576 | TTLL2 | c.1445C>A (p.Ala482Asp) c.1226C>A (p.Ala409Asp) | |
6 | g.167341345C= | CA1680342068 | TTLL2 | c.1445C= (p.Ala482=) c.1226C= (p.Ala409=) | |
6 | g.167341345C>G | CA366424577 | TTLL2 | c.1445C>G (p.Ala482Gly) c.1226C>G (p.Ala409Gly) | |
6 | g.167341345C>T | CA366424578 | TTLL2 | c.1445C>T (p.Ala482Val) c.1226C>T (p.Ala409Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341346T>A | CA453305122 | TTLL2 | c.1446T>A (p.Ala482=) c.1227T>A (p.Ala409=) | |
6 | g.167341346T>C | CA453305123 | TTLL2 | c.1446T>C (p.Ala482=) c.1227T>C (p.Ala409=) | |
6 | g.167341346T>G | CA453305124 | TTLL2 | c.1446T>G (p.Ala482=) c.1227T>G (p.Ala409=) | |
6 | g.167341347G>A | CA366424581 | TTLL2 | c.1447G>A (p.Ala483Thr) c.1228G>A (p.Ala410Thr) | gnomAD v4 |
6 | g.167341347G>C | CA366424579 | TTLL2 | c.1447G>C (p.Ala483Pro) c.1228G>C (p.Ala410Pro) | |
6 | g.167341347G>T | CA366424580 | TTLL2 | c.1447G>T (p.Ala483Ser) c.1228G>T (p.Ala410Ser) | |
6 | g.167341348C>A | CA366424582 | TTLL2 | c.1448C>A (p.Ala483Glu) c.1229C>A (p.Ala410Glu) | |
6 | g.167341348C= | CA1680342069 | TTLL2 | c.1448C= (p.Ala483=) c.1229C= (p.Ala410=) | |
6 | g.167341348C>G | CA366424583 | TTLL2 | c.1448C>G (p.Ala483Gly) c.1229C>G (p.Ala410Gly) | |
6 | g.167341348C>T | CA4097540 | TTLL2 | c.1448C>T (p.Ala483Val) c.1229C>T (p.Ala410Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341349A= | CA1680342070 | TTLL2 | c.1449A= (p.Ala483=) c.1230A= (p.Ala410=) | |
6 | g.167341349A>C | CA453305126 | TTLL2 | c.1449A>C (p.Ala483=) c.1230A>C (p.Ala410=) | dbSNP |
6 | g.167341349A>G | CA4097541 | TTLL2 | c.1449A>G (p.Ala483=) c.1230A>G (p.Ala410=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341349A>T | CA453305127 | TTLL2 | c.1449A>T (p.Ala483=) c.1230A>T (p.Ala410=) | COSMIC |
6 | g.167341350C>A | CA151970400 | TTLL2 | c.1450C>A (p.Pro484Thr) c.1231C>A (p.Pro411Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341350C= | CA1680342071 | TTLL2 | c.1450C= (p.Pro484=) c.1231C= (p.Pro411=) | |
6 | g.167341350C>G | CA366424584 | TTLL2 | c.1450C>G (p.Pro484Ala) c.1231C>G (p.Pro411Ala) | |
6 | g.167341350C>T | CA4097542 | TTLL2 | c.1450C>T (p.Pro484Ser) c.1231C>T (p.Pro411Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341351C>A | CA366424585 | TTLL2 | c.1451C>A (p.Pro484His) c.1232C>A (p.Pro411His) | |
6 | g.167341351C= | CA1680342072 | TTLL2 | c.1451C= (p.Pro484=) c.1232C= (p.Pro411=) | |
6 | g.167341351C>G | CA366424586 | TTLL2 | c.1451C>G (p.Pro484Arg) c.1232C>G (p.Pro411Arg) | |
6 | g.167341351C>T | CA4097543 | TTLL2 | c.1451C>T (p.Pro484Leu) c.1232C>T (p.Pro411Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341352T>A | CA453305128 | TTLL2 | c.1452T>A (p.Pro484=) c.1233T>A (p.Pro411=) | |
6 | g.167341352T>C | CA453305129 | TTLL2 | c.1452T>C (p.Pro484=) c.1233T>C (p.Pro411=) | gnomAD v4 |
6 | g.167341352T>G | CA453305131 | TTLL2 | c.1452T>G (p.Pro484=) c.1233T>G (p.Pro411=) | |
6 | g.167341353G>A | CA366424587 | TTLL2 | c.1453G>A (p.Ala485Thr) c.1234G>A (p.Ala412Thr) | gnomAD v4 |
6 | g.167341353G>C | CA366424589 | TTLL2 | c.1453G>C (p.Ala485Pro) c.1234G>C (p.Ala412Pro) | |
6 | g.167341353G>T | CA366424588 | TTLL2 | c.1453G>T (p.Ala485Ser) c.1234G>T (p.Ala412Ser) | |
6 | g.167341354C>A | CA366424590 | TTLL2 | c.1454C>A (p.Ala485Asp) c.1235C>A (p.Ala412Asp) | |
6 | g.167341354C>G | CA366424591 | TTLL2 | c.1454C>G (p.Ala485Gly) c.1235C>G (p.Ala412Gly) | |
6 | g.167341354C>T | CA366424592 | TTLL2 | c.1454C>T (p.Ala485Val) c.1235C>T (p.Ala412Val) | COSMIC |
6 | g.167341355C>A | CA453305132 | TTLL2 | c.1455C>A (p.Ala485=) c.1236C>A (p.Ala412=) | |
6 | g.167341355C= | CA1680342073 | TTLL2 | c.1455C= (p.Ala485=) c.1236C= (p.Ala412=) | |
6 | g.167341355C>G | CA453305133 | TTLL2 | c.1455C>G (p.Ala485=) c.1236C>G (p.Ala412=) | |
6 | g.167341355C>T | CA4097544 | TTLL2 | c.1455C>T (p.Ala485=) c.1236C>T (p.Ala412=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341356T>A | CA366424593 | TTLL2 | c.1456T>A (p.Ser486Thr) c.1237T>A (p.Ser413Thr) | |
6 | g.167341356T>C | CA4097545 | TTLL2 | c.1456T>C (p.Ser486Pro) c.1237T>C (p.Ser413Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341356T>G | CA366424594 | TTLL2 | c.1456T>G (p.Ser486Ala) c.1237T>G (p.Ser413Ala) | |
6 | g.167341356T= | CA1680342074 | TTLL2 | c.1456T= (p.Ser486=) c.1237T= (p.Ser413=) | |
6 | g.167341357C>A | CA366424595 | TTLL2 | c.1457C>A (p.Ser486Tyr) c.1238C>A (p.Ser413Tyr) | |
6 | g.167341357C>G | CA366424596 | TTLL2 | c.1457C>G (p.Ser486Cys) c.1238C>G (p.Ser413Cys) | |
6 | g.167341357C>T | CA366424597 | TTLL2 | c.1457C>T (p.Ser486Phe) c.1238C>T (p.Ser413Phe) | |
6 | g.167341358C>A | CA453305138 | TTLL2 | c.1458C>A (p.Ser486=) c.1239C>A (p.Ser413=) | |
6 | g.167341358C>G | CA453305139 | TTLL2 | c.1458C>G (p.Ser486=) c.1239C>G (p.Ser413=) | |
6 | g.167341358C>T | CA453305137 | TTLL2 | c.1458C>T (p.Ser486=) c.1239C>T (p.Ser413=) | |
6 | g.167341359C>A | CA366424598 | TTLL2 | c.1459C>A (p.Gln487Lys) c.1240C>A (p.Gln414Lys) | |
6 | g.167341359C>G | CA366424599 | TTLL2 | c.1459C>G (p.Gln487Glu) c.1240C>G (p.Gln414Glu) | |
6 | g.167341359C>T | CA366424600 | TTLL2 | c.1459C>T (p.Gln487Ter) c.1240C>T (p.Gln414Ter) | |
6 | g.167341360A>C | CA366424601 | TTLL2 | c.1460A>C (p.Gln487Pro) c.1241A>C (p.Gln414Pro) | COSMIC |
6 | g.167341360A>G | CA366424602 | TTLL2 | c.1460A>G (p.Gln487Arg) c.1241A>G (p.Gln414Arg) | |
6 | g.167341360A>T | CA366424603 | TTLL2 | c.1460A>T (p.Gln487Leu) c.1241A>T (p.Gln414Leu) | |
6 | g.167341361G>A | CA453305141 | TTLL2 | c.1461G>A (p.Gln487=) c.1242G>A (p.Gln414=) | |
6 | g.167341361G>C | CA366424604 | TTLL2 | c.1461G>C (p.Gln487His) c.1242G>C (p.Gln414His) | |
6 | g.167341361G>T | CA366424605 | TTLL2 | c.1461G>T (p.Gln487His) c.1242G>T (p.Gln414His) | |
6 | g.167341362C>A | CA366424606 | TTLL2 | c.1462C>A (p.Leu488Met) c.1243C>A (p.Leu415Met) | |
6 | g.167341362C>G | CA366424607 | TTLL2 | c.1462C>G (p.Leu488Val) c.1243C>G (p.Leu415Val) | |
6 | g.167341362C>T | CA453305142 | TTLL2 | c.1462C>T (p.Leu488=) c.1243C>T (p.Leu415=) | gnomAD v4 |
6 | g.167341363T>A | CA366424608 | TTLL2 | c.1463T>A (p.Leu488Gln) c.1244T>A (p.Leu415Gln) | |
6 | g.167341363T>C | CA366424609 | TTLL2 | c.1463T>C (p.Leu488Pro) c.1244T>C (p.Leu415Pro) | gnomAD v4 |
6 | g.167341363T>G | CA366424610 | TTLL2 | c.1463T>G (p.Leu488Arg) c.1244T>G (p.Leu415Arg) | |
6 | g.167341364G>A | CA453305143 | TTLL2 | c.1464G>A (p.Leu488=) c.1245G>A (p.Leu415=) | |
6 | g.167341364G>C | CA453305145 | TTLL2 | c.1464G>C (p.Leu488=) c.1245G>C (p.Leu415=) | |
6 | g.167341364G>T | CA453305144 | TTLL2 | c.1464G>T (p.Leu488=) c.1245G>T (p.Leu415=) | |
6 | g.167341365G>A | CA151970419 | TTLL2 | c.1465G>A (p.Glu489Lys) c.1246G>A (p.Glu416Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341365G>C | CA366424611 | TTLL2 | c.1465G>C (p.Glu489Gln) c.1246G>C (p.Glu416Gln) | |
6 | g.167341365G= | CA1680342075 | TTLL2 | c.1465G= (p.Glu489=) c.1246G= (p.Glu416=) | |
6 | g.167341365G>T | CA366424612 | TTLL2 | c.1465G>T (p.Glu489Ter) c.1246G>T (p.Glu416Ter) | |
6 | g.167341366A>C | CA366424615 | TTLL2 | c.1466A>C (p.Glu489Ala) c.1247A>C (p.Glu416Ala) | |
6 | g.167341366A>G | CA366424613 | TTLL2 | c.1466A>G (p.Glu489Gly) c.1247A>G (p.Glu416Gly) | |
6 | g.167341366A>T | CA366424614 | TTLL2 | c.1466A>T (p.Glu489Val) c.1247A>T (p.Glu416Val) | |
6 | g.167341367A>C | CA366424616 | TTLL2 | c.1467A>C (p.Glu489Asp) c.1248A>C (p.Glu416Asp) | |
6 | g.167341367A>G | CA453305146 | TTLL2 | c.1467A>G (p.Glu489=) c.1248A>G (p.Glu416=) | |
6 | g.167341367A>T | CA366424617 | TTLL2 | c.1467A>T (p.Glu489Asp) c.1248A>T (p.Glu416Asp) | |
6 | g.167341368G>A | CA366424618 | TTLL2 | c.1468G>A (p.Gly490Arg) c.1249G>A (p.Gly417Arg) | |
6 | g.167341368G>C | CA366424619 | TTLL2 | c.1468G>C (p.Gly490Arg) c.1249G>C (p.Gly417Arg) | |
6 | g.167341368G>T | CA366424620 | TTLL2 | c.1468G>T (p.Gly490Ter) c.1249G>T (p.Gly417Ter) | |
6 | g.167341369G>A | CA366424621 | TTLL2 | c.1469G>A (p.Gly490Glu) c.1250G>A (p.Gly417Glu) | |
6 | g.167341369G>C | CA366424623 | TTLL2 | c.1469G>C (p.Gly490Ala) c.1250G>C (p.Gly417Ala) | |
6 | g.167341369G>T | CA366424622 | TTLL2 | c.1469G>T (p.Gly490Val) c.1250G>T (p.Gly417Val) | |
6 | g.167341370A>C | CA453305150 | TTLL2 | c.1470A>C (p.Gly490=) c.1251A>C (p.Gly417=) | |
6 | g.167341370A>G | CA453305151 | TTLL2 | c.1470A>G (p.Gly490=) c.1251A>G (p.Gly417=) | |
6 | g.167341370A>T | CA453305154 | TTLL2 | c.1470A>T (p.Gly490=) c.1251A>T (p.Gly417=) | |
6 | g.167341371G>A | CA4097546 | TTLL2 | c.1471G>A (p.Glu491Lys) c.1252G>A (p.Glu418Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341371G>C | CA366424624 | TTLL2 | c.1471G>C (p.Glu491Gln) c.1252G>C (p.Glu418Gln) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341371G= | CA1680342076 | TTLL2 | c.1471G= (p.Glu491=) c.1252G= (p.Glu418=) | |
6 | g.167341371G>T | CA366424625 | TTLL2 | c.1471G>T (p.Glu491Ter) c.1252G>T (p.Glu418Ter) | |
6 | g.167341372A= | CA1680342077 | TTLL2 | c.1472A= (p.Glu491=) c.1253A= (p.Glu418=) | |
6 | g.167341372A>C | CA366424626 | TTLL2 | c.1472A>C (p.Glu491Ala) c.1253A>C (p.Glu418Ala) | |
6 | g.167341372A>G | CA366424627 | TTLL2 | c.1472A>G (p.Glu491Gly) c.1253A>G (p.Glu418Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341372A>T | CA366424628 | TTLL2 | c.1472A>T (p.Glu491Val) c.1253A>T (p.Glu418Val) | |
6 | g.167341373G>A | CA453305158 | TTLL2 | c.1473G>A (p.Glu491=) c.1254G>A (p.Glu418=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341373G>C | CA366424629 | TTLL2 | c.1473G>C (p.Glu491Asp) c.1254G>C (p.Glu418Asp) | |
6 | g.167341373G= | CA1680342078 | TTLL2 | c.1473G= (p.Glu491=) c.1254G= (p.Glu418=) | |
6 | g.167341373G>T | CA366424630 | TTLL2 | c.1473G>T (p.Glu491Asp) c.1254G>T (p.Glu418Asp) | |
6 | g.167341374A>C | CA366424631 | TTLL2 | c.1474A>C (p.Met492Leu) c.1255A>C (p.Met419Leu) | |
6 | g.167341374A>G | CA366424632 | TTLL2 | c.1474A>G (p.Met492Val) c.1255A>G (p.Met419Val) | |
6 | g.167341374A>T | CA366424633 | TTLL2 | c.1474A>T (p.Met492Leu) c.1255A>T (p.Met419Leu) | |
6 | g.167341375T>A | CA366424636 | TTLL2 | c.1475T>A (p.Met492Lys) c.1256T>A (p.Met419Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341375T>C | CA366424634 | TTLL2 | c.1475T>C (p.Met492Thr) c.1256T>C (p.Met419Thr) | gnomAD v4 |
6 | g.167341375T>G | CA366424635 | TTLL2 | c.1475T>G (p.Met492Arg) c.1256T>G (p.Met419Arg) | |
6 | g.167341375T= | CA1680342079 | TTLL2 | c.1475T= (p.Met492=) c.1256T= (p.Met419=) | |
6 | g.167341376G>A | CA366424637 | TTLL2 | c.1476G>A (p.Met492Ile) c.1257G>A (p.Met419Ile) | |
6 | g.167341376G>C | CA366424639 | TTLL2 | c.1476G>C (p.Met492Ile) c.1257G>C (p.Met419Ile) | |
6 | g.167341376G>T | CA366424638 | TTLL2 | c.1476G>T (p.Met492Ile) c.1257G>T (p.Met419Ile) | |
6 | g.167341377A>C | CA366424640 | TTLL2 | c.1477A>C (p.Ser493Arg) c.1258A>C (p.Ser420Arg) | |
6 | g.167341377A>G | CA366424642 | TTLL2 | c.1477A>G (p.Ser493Gly) c.1258A>G (p.Ser420Gly) | |
6 | g.167341377A>T | CA366424641 | TTLL2 | c.1477A>T (p.Ser493Cys) c.1258A>T (p.Ser420Cys) | |
6 | g.167341378G>A | CA366424643 | TTLL2 | c.1478G>A (p.Ser493Asn) c.1259G>A (p.Ser420Asn) | |
6 | g.167341378G>C | CA366424644 | TTLL2 | c.1478G>C (p.Ser493Thr) c.1259G>C (p.Ser420Thr) | |
6 | g.167341378G>T | CA366424645 | TTLL2 | c.1478G>T (p.Ser493Ile) c.1259G>T (p.Ser420Ile) | |
6 | g.167341379T>A | CA366424646 | TTLL2 | c.1479T>A (p.Ser493Arg) c.1260T>A (p.Ser420Arg) | |
6 | g.167341379T>C | CA453305169 | TTLL2 | c.1479T>C (p.Ser493=) c.1260T>C (p.Ser420=) | |
6 | g.167341379T>G | CA366424647 | TTLL2 | c.1479T>G (p.Ser493Arg) c.1260T>G (p.Ser420Arg) | |
6 | g.167341380G>A | CA366424648 | TTLL2 | c.1480G>A (p.Gly494Arg) c.1261G>A (p.Gly421Arg) | gnomAD v4 |
6 | g.167341380G>C | CA366424649 | TTLL2 | c.1480G>C (p.Gly494Arg) c.1261G>C (p.Gly421Arg) | gnomAD v4 |
6 | g.167341380G>T | CA366424650 | TTLL2 | c.1480G>T (p.Gly494Trp) c.1261G>T (p.Gly421Trp) | |
6 | g.167341381G>A | CA366424651 | TTLL2 | c.1481G>A (p.Gly494Glu) c.1262G>A (p.Gly421Glu) | dbSNP gnomAD v4 |
6 | g.167341381G>C | CA366424652 | TTLL2 | c.1481G>C (p.Gly494Ala) c.1262G>C (p.Gly421Ala) | |
6 | g.167341381G= | CA1680342080 | TTLL2 | c.1481G= (p.Gly494=) c.1262G= (p.Gly421=) | |
6 | g.167341381G>T | CA366424653 | TTLL2 | c.1481G>T (p.Gly494Val) c.1262G>T (p.Gly421Val) | |
6 | g.167341382G>A | CA453305171 | TTLL2 | c.1482G>A (p.Gly494=) c.1263G>A (p.Gly421=) | gnomAD v4 |
6 | g.167341382G>C | CA453305172 | TTLL2 | c.1482G>C (p.Gly494=) c.1263G>C (p.Gly421=) | |
6 | g.167341382G>T | CA453305175 | TTLL2 | c.1482G>T (p.Gly494=) c.1263G>T (p.Gly421=) | |
6 | g.167341383C>A | CA366424656 | TTLL2 | c.1483C>A (p.Gln495Lys) c.1264C>A (p.Gln422Lys) | dbSNP |
6 | g.167341383C= | CA1680342081 | TTLL2 | c.1483C= (p.Gln495=) c.1264C= (p.Gln422=) | |
6 | g.167341383C>G | CA366424654 | TTLL2 | c.1483C>G (p.Gln495Glu) c.1264C>G (p.Gln422Glu) | gnomAD v4 |
6 | g.167341383C>T | CA366424655 | TTLL2 | c.1483C>T (p.Gln495Ter) c.1264C>T (p.Gln422Ter) | dbSNP |
6 | g.167341384A>C | CA366424657 | TTLL2 | c.1484A>C (p.Gln495Pro) c.1265A>C (p.Gln422Pro) | |
6 | g.167341384A>G | CA366424658 | TTLL2 | c.1484A>G (p.Gln495Arg) c.1265A>G (p.Gln422Arg) | |
6 | g.167341384A>T | CA366424659 | TTLL2 | c.1484A>T (p.Gln495Leu) c.1265A>T (p.Gln422Leu) | |
6 | g.167341385G>A | CA453305177 | TTLL2 | c.1485G>A (p.Gln495=) c.1266G>A (p.Gln422=) | |
6 | g.167341385G>C | CA366424660 | TTLL2 | c.1485G>C (p.Gln495His) c.1266G>C (p.Gln422His) | |
6 | g.167341385G>T | CA366424661 | TTLL2 | c.1485G>T (p.Gln495His) c.1266G>T (p.Gln422His) | ClinVar |
6 | g.167341386G>A | CA366424662 | TTLL2 | c.1486G>A (p.Asp496Asn) c.1267G>A (p.Asp423Asn) | COSMIC |
6 | g.167341386G>C | CA366424663 | TTLL2 | c.1486G>C (p.Asp496His) c.1267G>C (p.Asp423His) | |
6 | g.167341386G>T | CA366424664 | TTLL2 | c.1486G>T (p.Asp496Tyr) c.1267G>T (p.Asp423Tyr) | |
6 | g.167341387A>C | CA366424665 | TTLL2 | c.1487A>C (p.Asp496Ala) c.1268A>C (p.Asp423Ala) | |
6 | g.167341387A>G | CA366424666 | TTLL2 | c.1487A>G (p.Asp496Gly) c.1268A>G (p.Asp423Gly) | gnomAD v4 |
6 | g.167341387A>T | CA366424667 | TTLL2 | c.1487A>T (p.Asp496Val) c.1268A>T (p.Asp423Val) | |
6 | g.167341388T>A | CA366424668 | TTLL2 | c.1488T>A (p.Asp496Glu) c.1269T>A (p.Asp423Glu) | gnomAD v4 |
6 | g.167341388T>C | CA453305314 | TTLL2 | c.1488T>C (p.Asp496=) c.1269T>C (p.Asp423=) | |
6 | g.167341388T>G | CA366424669 | TTLL2 | c.1488T>G (p.Asp496Glu) c.1269T>G (p.Asp423Glu) | COSMIC |
6 | g.167341389T>A | CA366424670 | TTLL2 | c.1489T>A (p.Phe497Ile) c.1270T>A (p.Phe424Ile) | |
6 | g.167341389T>C | CA366424671 | TTLL2 | c.1489T>C (p.Phe497Leu) c.1270T>C (p.Phe424Leu) | |
6 | g.167341389T>G | CA366424672 | TTLL2 | c.1489T>G (p.Phe497Val) c.1270T>G (p.Phe424Val) | |
6 | g.167341390T>A | CA366424673 | TTLL2 | c.1490T>A (p.Phe497Tyr) c.1271T>A (p.Phe424Tyr) | |
6 | g.167341390T>C | CA366424674 | TTLL2 | c.1490T>C (p.Phe497Ser) c.1271T>C (p.Phe424Ser) | |
6 | g.167341390T>G | CA366424675 | TTLL2 | c.1490T>G (p.Phe497Cys) c.1271T>G (p.Phe424Cys) | |
6 | g.167341391T>A | CA366424676 | TTLL2 | c.1491T>A (p.Phe497Leu) c.1272T>A (p.Phe424Leu) | |
6 | g.167341391T>C | CA453305322 | TTLL2 | c.1491T>C (p.Phe497=) c.1272T>C (p.Phe424=) | |
6 | g.167341391T>G | CA366424677 | TTLL2 | c.1491T>G (p.Phe497Leu) c.1272T>G (p.Phe424Leu) | |
6 | g.167341392C>A | CA366424678 | TTLL2 | c.1492C>A (p.His498Asn) c.1273C>A (p.His425Asn) | |
6 | g.167341392C>G | CA366424679 | TTLL2 | c.1492C>G (p.His498Asp) c.1273C>G (p.His425Asp) | |
6 | g.167341392C>T | CA366424680 | TTLL2 | c.1492C>T (p.His498Tyr) c.1273C>T (p.His425Tyr) | gnomAD v4 COSMIC |
6 | g.167341393A>C | CA366424683 | TTLL2 | c.1493A>C (p.His498Pro) c.1274A>C (p.His425Pro) | |
6 | g.167341393A>G | CA366424682 | TTLL2 | c.1493A>G (p.His498Arg) c.1274A>G (p.His425Arg) | |
6 | g.167341393A>T | CA366424681 | TTLL2 | c.1493A>T (p.His498Leu) c.1274A>T (p.His425Leu) | |
6 | g.167341394T>A | CA366424684 | TTLL2 | c.1494T>A (p.His498Gln) c.1275T>A (p.His425Gln) | |
6 | g.167341394T>C | CA453305327 | TTLL2 | c.1494T>C (p.His498=) c.1275T>C (p.His425=) | |
6 | g.167341394T>G | CA366424685 | TTLL2 | c.1494T>G (p.His498Gln) c.1275T>G (p.His425Gln) | |
6 | g.167341395C>A | CA366424686 | TTLL2 | c.1495C>A (p.Leu499Met) c.1276C>A (p.Leu426Met) | |
6 | g.167341395C>G | CA366424687 | TTLL2 | c.1495C>G (p.Leu499Val) c.1276C>G (p.Leu426Val) | |
6 | g.167341395C>T | CA453305329 | TTLL2 | c.1495C>T (p.Leu499=) c.1276C>T (p.Leu426=) | gnomAD v4 |
6 | g.167341396T>A | CA366424688 | TTLL2 | c.1496T>A (p.Leu499Gln) c.1277T>A (p.Leu426Gln) | |
6 | g.167341396T>C | CA366424689 | TTLL2 | c.1496T>C (p.Leu499Pro) c.1277T>C (p.Leu426Pro) | dbSNP |
6 | g.167341396T>G | CA366424690 | TTLL2 | c.1496T>G (p.Leu499Arg) c.1277T>G (p.Leu426Arg) | |
6 | g.167341396T= | CA1680342082 | TTLL2 | c.1496T= (p.Leu499=) c.1277T= (p.Leu426=) | |
6 | g.167341397G>A | CA453305331 | TTLL2 | c.1497G>A (p.Leu499=) c.1278G>A (p.Leu426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341397G>C | CA453305332 | TTLL2 | c.1497G>C (p.Leu499=) c.1278G>C (p.Leu426=) | |
6 | g.167341397G= | CA1680342083 | TTLL2 | c.1497G= (p.Leu499=) c.1278G= (p.Leu426=) | |
6 | g.167341397G>T | CA453305333 | TTLL2 | c.1497G>T (p.Leu499=) c.1278G>T (p.Leu426=) | |
6 | g.167341398T>A | CA366424691 | TTLL2 | c.1498T>A (p.Ser500Thr) c.1279T>A (p.Ser427Thr) | |
6 | g.167341398T>C | CA366424692 | TTLL2 | c.1498T>C (p.Ser500Pro) c.1279T>C (p.Ser427Pro) | |
6 | g.167341398T>G | CA366424693 | TTLL2 | c.1498T>G (p.Ser500Ala) c.1279T>G (p.Ser427Ala) | |
6 | g.167341399C>A | CA366424694 | TTLL2 | c.1499C>A (p.Ser500Ter) c.1280C>A (p.Ser427Ter) | |
6 | g.167341399C= | CA1680342084 | TTLL2 | c.1499C= (p.Ser500=) c.1280C= (p.Ser427=) | |
6 | g.167341399C>G | CA4097547 | TTLL2 | c.1499C>G (p.Ser500Ter) c.1280C>G (p.Ser427Ter) | dbSNP ExAC gnomAD v2 COSMIC |
6 | g.167341399C>T | CA366424695 | TTLL2 | c.1499C>T (p.Ser500Leu) c.1280C>T (p.Ser427Leu) |