| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66850248G>A | CA381492347 | PC | c.2690C>T (p.Ala897Val) n.290-183C>T c.*699C>T (n.*699C>T) c.*1166C>T (n.*1166C>T) c.50C>T (p.Ala17Val) c.1169C>T (p.Ala390Val) c.1394C>T (p.Ala465Val) c.1325C>T (p.Ala442Val) | dbSNP |
| 11 | g.66850248G>C | CA381492345 | PC | c.2690C>G (p.Ala897Gly) n.290-183C>G c.*699C>G (n.*699C>G) c.*1166C>G (n.*1166C>G) c.50C>G (p.Ala17Gly) c.1169C>G (p.Ala390Gly) c.1394C>G (p.Ala465Gly) c.1325C>G (p.Ala442Gly) | |
| 11 | g.66850248G= | CA1979879284 | PC | c.2690C= (p.Ala897=) n.290-183C= c.*699C= (n.*699C=) c.*1166C= (n.*1166C=) c.50C= (p.Ala17=) c.1169C= (p.Ala390=) c.1394C= (p.Ala465=) c.1325C= (p.Ala442=) | |
| 11 | g.66850248G>T | CA381492346 | PC | c.2690C>A (p.Ala897Asp) n.290-183C>A c.*699C>A (n.*699C>A) c.*1166C>A (n.*1166C>A) c.50C>A (p.Ala17Asp) c.1169C>A (p.Ala390Asp) c.1394C>A (p.Ala465Asp) c.1325C>A (p.Ala442Asp) | gnomAD v4 |
| 11 | g.66850249C>A | CA381492348 | PC | c.2689G>T (p.Ala897Ser) n.290-184G>T c.*698G>T (n.*698G>T) c.*1165G>T (n.*1165G>T) c.49G>T (p.Ala17Ser) c.1168G>T (p.Ala390Ser) c.1393G>T (p.Ala465Ser) c.1324G>T (p.Ala442Ser) | |
| 11 | g.66850249C>G | CA381492349 | PC | c.2689G>C (p.Ala897Pro) n.290-184G>C c.*698G>C (n.*698G>C) c.*1165G>C (n.*1165G>C) c.49G>C (p.Ala17Pro) c.1168G>C (p.Ala390Pro) c.1393G>C (p.Ala465Pro) c.1324G>C (p.Ala442Pro) | |
| 11 | g.66850249C>T | CA381492350 | PC | c.2689G>A (p.Ala897Thr) n.290-184G>A c.*698G>A (n.*698G>A) c.*1165G>A (n.*1165G>A) c.49G>A (p.Ala17Thr) c.1168G>A (p.Ala390Thr) c.1393G>A (p.Ala465Thr) c.1324G>A (p.Ala442Thr) | |
| 11 | g.66850250C>A | CA381492351 | PC | c.2688G>T (p.Glu896Asp) n.290-185G>T c.*697G>T (n.*697G>T) c.*1164G>T (n.*1164G>T) c.48G>T (p.Glu16Asp) c.1167G>T (p.Glu389Asp) c.1392G>T (p.Glu464Asp) c.1323G>T (p.Glu441Asp) | COSMIC |
| 11 | g.66850250C>G | CA381492352 | PC | c.2688G>C (p.Glu896Asp) n.290-185G>C c.*697G>C (n.*697G>C) c.*1164G>C (n.*1164G>C) c.48G>C (p.Glu16Asp) c.1167G>C (p.Glu389Asp) c.1392G>C (p.Glu464Asp) c.1323G>C (p.Glu441Asp) | |
| 11 | g.66850250C>T | CA475501311 | PC | c.2688G>A (p.Glu896=) n.290-185G>A c.*697G>A (n.*697G>A) c.*1164G>A (n.*1164G>A) c.48G>A (p.Glu16=) c.1167G>A (p.Glu389=) c.1392G>A (p.Glu464=) c.1323G>A (p.Glu441=) | ClinVar gnomAD v4 |
| 11 | g.66850251T>A | CA381492353 | PC | c.2687A>T (p.Glu896Val) n.290-186A>T c.*696A>T (n.*696A>T) c.*1163A>T (n.*1163A>T) c.47A>T (p.Glu16Val) c.1166A>T (p.Glu389Val) c.1391A>T (p.Glu464Val) c.1322A>T (p.Glu441Val) | |
| 11 | g.66850251T>C | CA381492354 | PC | c.2687A>G (p.Glu896Gly) n.290-186A>G c.*696A>G (n.*696A>G) c.*1163A>G (n.*1163A>G) c.47A>G (p.Glu16Gly) c.1166A>G (p.Glu389Gly) c.1391A>G (p.Glu464Gly) c.1322A>G (p.Glu441Gly) | |
| 11 | g.66850251T>G | CA381492355 | PC | c.2687A>C (p.Glu896Ala) n.290-186A>C c.*696A>C (n.*696A>C) c.*1163A>C (n.*1163A>C) c.47A>C (p.Glu16Ala) c.1166A>C (p.Glu389Ala) c.1391A>C (p.Glu464Ala) c.1322A>C (p.Glu441Ala) | |
| 11 | g.66850252C>A | CA381492356 | PC | c.2686G>T (p.Glu896Ter) n.290-187G>T c.*695G>T (n.*695G>T) c.*1162G>T (n.*1162G>T) c.46G>T (p.Glu16Ter) c.1165G>T (p.Glu389Ter) c.1390G>T (p.Glu464Ter) c.1321G>T (p.Glu441Ter) | |
| 11 | g.66850252C= | CA1979879288 | PC | c.2686G= (p.Glu896=) n.290-187G= c.*695G= (n.*695G=) c.*1162G= (n.*1162G=) c.46G= (p.Glu16=) c.1165G= (p.Glu389=) c.1390G= (p.Glu464=) c.1321G= (p.Glu441=) | |
| 11 | g.66850252C>G | CA381492357 | PC | c.2686G>C (p.Glu896Gln) n.290-187G>C c.*695G>C (n.*695G>C) c.*1162G>C (n.*1162G>C) c.46G>C (p.Glu16Gln) c.1165G>C (p.Glu389Gln) c.1390G>C (p.Glu464Gln) c.1321G>C (p.Glu441Gln) | |
| 11 | g.66850252C>T | CA6131015 | PC | c.2686G>A (p.Glu896Lys) n.290-187G>A c.*695G>A (n.*695G>A) c.*1162G>A (n.*1162G>A) c.46G>A (p.Glu16Lys) c.1165G>A (p.Glu389Lys) c.1390G>A (p.Glu464Lys) c.1321G>A (p.Glu441Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850253C>A | CA475501312 | PC | c.2685G>T (p.Val895=) n.290-188G>T c.*694G>T (n.*694G>T) c.*1161G>T (n.*1161G>T) c.45G>T (p.Val15=) c.1164G>T (p.Val388=) c.1389G>T (p.Val463=) c.1320G>T (p.Val440=) | |
| 11 | g.66850253C>G | CA475501313 | PC | c.2685G>C (p.Val895=) n.290-188G>C c.*694G>C (n.*694G>C) c.*1161G>C (n.*1161G>C) c.45G>C (p.Val15=) c.1164G>C (p.Val388=) c.1389G>C (p.Val463=) c.1320G>C (p.Val440=) | |
| 11 | g.66850253C>T | CA475501314 | PC | c.2685G>A (p.Val895=) n.290-188G>A c.*694G>A (n.*694G>A) c.*1161G>A (n.*1161G>A) c.45G>A (p.Val15=) c.1164G>A (p.Val388=) c.1389G>A (p.Val463=) c.1320G>A (p.Val440=) | ClinVar |
| 11 | g.66850254A>C | CA381492360 | PC | c.2684T>G (p.Val895Gly) n.290-189T>G c.*693T>G (n.*693T>G) c.*1160T>G (n.*1160T>G) c.44T>G (p.Val15Gly) c.1163T>G (p.Val388Gly) c.1388T>G (p.Val463Gly) c.1319T>G (p.Val440Gly) | |
| 11 | g.66850254A>G | CA381492359 | PC | c.2684T>C (p.Val895Ala) n.290-189T>C c.*693T>C (n.*693T>C) c.*1160T>C (n.*1160T>C) c.44T>C (p.Val15Ala) c.1163T>C (p.Val388Ala) c.1388T>C (p.Val463Ala) c.1319T>C (p.Val440Ala) | |
| 11 | g.66850254A>T | CA381492358 | PC | c.2684T>A (p.Val895Glu) n.290-189T>A c.*693T>A (n.*693T>A) c.*1160T>A (n.*1160T>A) c.44T>A (p.Val15Glu) c.1163T>A (p.Val388Glu) c.1388T>A (p.Val463Glu) c.1319T>A (p.Val440Glu) | |
| 11 | g.66850255C>A | CA381492361 | PC | c.2683G>T (p.Val895Leu) n.290-190G>T c.*692G>T (n.*692G>T) c.*1159G>T (n.*1159G>T) c.43G>T (p.Val15Leu) c.1162G>T (p.Val388Leu) c.1387G>T (p.Val463Leu) c.1318G>T (p.Val440Leu) | |
| 11 | g.66850255C= | CA1979879292 | PC | c.2683G= (p.Val895=) n.290-190G= c.*692G= (n.*692G=) c.*1159G= (n.*1159G=) c.43G= (p.Val15=) c.1162G= (p.Val388=) c.1387G= (p.Val463=) c.1318G= (p.Val440=) | |
| 11 | g.66850255C>G | CA381492362 | PC | c.2683G>C (p.Val895Leu) n.290-190G>C c.*692G>C (n.*692G>C) c.*1159G>C (n.*1159G>C) c.43G>C (p.Val15Leu) c.1162G>C (p.Val388Leu) c.1387G>C (p.Val463Leu) c.1318G>C (p.Val440Leu) | |
| 11 | g.66850255C>T | CA6131016 | PC | c.2683G>A (p.Val895Met) n.290-190G>A c.*692G>A (n.*692G>A) c.*1159G>A (n.*1159G>A) c.43G>A (p.Val15Met) c.1162G>A (p.Val388Met) c.1387G>A (p.Val463Met) c.1318G>A (p.Val440Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850256A= | CA1979879297 | PC | c.2682T= (p.Tyr894=) n.290-191T= c.*691T= (n.*691T=) c.*1158T= (n.*1158T=) c.42T= (p.Tyr14=) c.1161T= (p.Tyr387=) c.1386T= (p.Tyr462=) c.1317T= (p.Tyr439=) | |
| 11 | g.66850256A>C | CA381492363 | PC | c.2682T>G (p.Tyr894Ter) n.290-191T>G c.*691T>G (n.*691T>G) c.*1158T>G (n.*1158T>G) c.42T>G (p.Tyr14Ter) c.1161T>G (p.Tyr387Ter) c.1386T>G (p.Tyr462Ter) c.1317T>G (p.Tyr439Ter) | |
| 11 | g.66850256A>G | CA312866 | PC | c.2682T>C (p.Tyr894=) n.290-191T>C c.*691T>C (n.*691T>C) c.*1158T>C (n.*1158T>C) c.42T>C (p.Tyr14=) c.1161T>C (p.Tyr387=) c.1386T>C (p.Tyr462=) c.1317T>C (p.Tyr439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850256A>T | CA381492364 | PC | c.2682T>A (p.Tyr894Ter) n.290-191T>A c.*691T>A (n.*691T>A) c.*1158T>A (n.*1158T>A) c.42T>A (p.Tyr14Ter) c.1161T>A (p.Tyr387Ter) c.1386T>A (p.Tyr462Ter) c.1317T>A (p.Tyr439Ter) | |
| 11 | g.66850257T>A | CA6131017 | PC | c.2681A>T (p.Tyr894Phe) n.290-192A>T c.*690A>T (n.*690A>T) c.*1157A>T (n.*1157A>T) c.41A>T (p.Tyr14Phe) c.1160A>T (p.Tyr387Phe) c.1385A>T (p.Tyr462Phe) c.1316A>T (p.Tyr439Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850257T>C | CA381492365 | PC | c.2681A>G (p.Tyr894Cys) n.290-192A>G c.*690A>G (n.*690A>G) c.*1157A>G (n.*1157A>G) c.41A>G (p.Tyr14Cys) c.1160A>G (p.Tyr387Cys) c.1385A>G (p.Tyr462Cys) c.1316A>G (p.Tyr439Cys) | gnomAD v4 |
| 11 | g.66850257T>G | CA381492367 | PC | c.2681A>C (p.Tyr894Ser) n.290-192A>C c.*690A>C (n.*690A>C) c.*1157A>C (n.*1157A>C) c.41A>C (p.Tyr14Ser) c.1160A>C (p.Tyr387Ser) c.1385A>C (p.Tyr462Ser) c.1316A>C (p.Tyr439Ser) | |
| 11 | g.66850257T= | CA1979879302 | PC | c.2681A= (p.Tyr894=) n.290-192A= c.*690A= (n.*690A=) c.*1157A= (n.*1157A=) c.41A= (p.Tyr14=) c.1160A= (p.Tyr387=) c.1385A= (p.Tyr462=) c.1316A= (p.Tyr439=) | |
| 11 | g.66850258A>C | CA381492369 | PC | c.2680T>G (p.Tyr894Asp) n.290-193T>G c.*689T>G (n.*689T>G) c.*1156T>G (n.*1156T>G) c.40T>G (p.Tyr14Asp) c.1159T>G (p.Tyr387Asp) c.1384T>G (p.Tyr462Asp) c.1315T>G (p.Tyr439Asp) | |
| 11 | g.66850258A>G | CA381492371 | PC | c.2680T>C (p.Tyr894His) n.290-193T>C c.*689T>C (n.*689T>C) c.*1156T>C (n.*1156T>C) c.40T>C (p.Tyr14His) c.1159T>C (p.Tyr387His) c.1384T>C (p.Tyr462His) c.1315T>C (p.Tyr439His) | |
| 11 | g.66850258A>T | CA381492372 | PC | c.2680T>A (p.Tyr894Asn) n.290-193T>A c.*689T>A (n.*689T>A) c.*1156T>A (n.*1156T>A) c.40T>A (p.Tyr14Asn) c.1159T>A (p.Tyr387Asn) c.1384T>A (p.Tyr462Asn) c.1315T>A (p.Tyr439Asn) | |
| 11 | g.66850259G>A | CA475501317 | PC | c.2679C>T (p.Ala893=) n.290-194C>T c.*688C>T (n.*688C>T) c.*1155C>T (n.*1155C>T) c.39C>T (p.Ala13=) c.1158C>T (p.Ala386=) c.1383C>T (p.Ala461=) c.1314C>T (p.Ala438=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850259G>C | CA475501315 | PC | c.2679C>G (p.Ala893=) n.290-194C>G c.*688C>G (n.*688C>G) c.*1155C>G (n.*1155C>G) c.39C>G (p.Ala13=) c.1158C>G (p.Ala386=) c.1383C>G (p.Ala461=) c.1314C>G (p.Ala438=) | dbSNP |
| 11 | g.66850259G= | CA1979879307 | PC | c.2679C= (p.Ala893=) n.290-194C= c.*688C= (n.*688C=) c.*1155C= (n.*1155C=) c.39C= (p.Ala13=) c.1158C= (p.Ala386=) c.1383C= (p.Ala461=) c.1314C= (p.Ala438=) | |
| 11 | g.66850259G>T | CA475501316 | PC | c.2679C>A (p.Ala893=) n.290-194C>A c.*688C>A (n.*688C>A) c.*1155C>A (n.*1155C>A) c.39C>A (p.Ala13=) c.1158C>A (p.Ala386=) c.1383C>A (p.Ala461=) c.1314C>A (p.Ala438=) | |
| 11 | g.66850260G>A | CA6131018 | PC | c.2678C>T (p.Ala893Val) n.290-195C>T c.*687C>T (n.*687C>T) c.*1154C>T (n.*1154C>T) c.38C>T (p.Ala13Val) c.1157C>T (p.Ala386Val) c.1382C>T (p.Ala461Val) c.1313C>T (p.Ala438Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850260G>C | CA381492374 | PC | c.2678C>G (p.Ala893Gly) n.290-195C>G c.*687C>G (n.*687C>G) c.*1154C>G (n.*1154C>G) c.38C>G (p.Ala13Gly) c.1157C>G (p.Ala386Gly) c.1382C>G (p.Ala461Gly) c.1313C>G (p.Ala438Gly) | |
| 11 | g.66850260G= | CA1979879310 | PC | c.2678C= (p.Ala893=) n.290-195C= c.*687C= (n.*687C=) c.*1154C= (n.*1154C=) c.38C= (p.Ala13=) c.1157C= (p.Ala386=) c.1382C= (p.Ala461=) c.1313C= (p.Ala438=) | |
| 11 | g.66850260G>T | CA381492373 | PC | c.2678C>A (p.Ala893Asp) n.290-195C>A c.*687C>A (n.*687C>A) c.*1154C>A (n.*1154C>A) c.38C>A (p.Ala13Asp) c.1157C>A (p.Ala386Asp) c.1382C>A (p.Ala461Asp) c.1313C>A (p.Ala438Asp) | |
| 11 | g.66850261C>A | CA381492375 | PC | c.2677G>T (p.Ala893Ser) n.290-196G>T c.*686G>T (n.*686G>T) c.*1153G>T (n.*1153G>T) c.37G>T (p.Ala13Ser) c.1156G>T (p.Ala386Ser) c.1381G>T (p.Ala461Ser) c.1312G>T (p.Ala438Ser) | |
| 11 | g.66850261C>G | CA381492376 | PC | c.2677G>C (p.Ala893Pro) n.290-196G>C c.*686G>C (n.*686G>C) c.*1153G>C (n.*1153G>C) c.37G>C (p.Ala13Pro) c.1156G>C (p.Ala386Pro) c.1381G>C (p.Ala461Pro) c.1312G>C (p.Ala438Pro) | |
| 11 | g.66850261C>T | CA381492377 | PC | c.2677G>A (p.Ala893Thr) n.290-196G>A c.*686G>A (n.*686G>A) c.*1153G>A (n.*1153G>A) c.37G>A (p.Ala13Thr) c.1156G>A (p.Ala386Thr) c.1381G>A (p.Ala461Thr) c.1312G>A (p.Ala438Thr) | |
| 11 | g.66850261_66850264delinsCCTT | CA1979879313 | PC | c.2674_2677delinsAAGG (p.Lys892=) n.290-199_290-196delinsAAGG c.*683_*686delinsAAGG (n.*683_*686delinsAAGG) c.*1150_*1153delinsAAGG (n.*1150_*1153delinsAAGG) c.34_37delinsAAGG (p.Lys12=) c.1153_1156delinsAAGG (p.Lys385=) c.1378_1381delinsAAGG (p.Lys460=) c.1309_1312delinsAAGG (p.Lys437=) | |
| 11 | g.66850262C>A | CA381492378 | PC | c.2676G>T (p.Lys892Asn) n.290-197G>T c.*685G>T (n.*685G>T) c.*1152G>T (n.*1152G>T) c.36G>T (p.Lys12Asn) c.1155G>T (p.Lys385Asn) c.1380G>T (p.Lys460Asn) c.1311G>T (p.Lys437Asn) | |
| 11 | g.66850262C>G | CA381492379 | PC | c.2676G>C (p.Lys892Asn) n.290-197G>C c.*685G>C (n.*685G>C) c.*1152G>C (n.*1152G>C) c.36G>C (p.Lys12Asn) c.1155G>C (p.Lys385Asn) c.1380G>C (p.Lys460Asn) c.1311G>C (p.Lys437Asn) | |
| 11 | g.66850262C>T | CA475501318 | PC | c.2676G>A (p.Lys892=) n.290-197G>A c.*685G>A (n.*685G>A) c.*1152G>A (n.*1152G>A) c.36G>A (p.Lys12=) c.1155G>A (p.Lys385=) c.1380G>A (p.Lys460=) c.1311G>A (p.Lys437=) | gnomAD v4 |
| 11 | g.66850265_66850267del | CA1979879318 | PC | c.2674_2676del (p.Lys892del) n.290-199_290-197del c.*683_*685del (n.*683_*685del) c.*1150_*1152del (n.*1150_*1152del) c.34_36del (p.Lys12del) c.1153_1155del (p.Lys385del) c.1378_1380del (p.Lys460del) c.1309_1311del (p.Lys437del) | dbSNP |
| 11 | g.66850263T>A | CA381492380 | PC | c.2675A>T (p.Lys892Met) n.290-198A>T c.*684A>T (n.*684A>T) c.*1151A>T (n.*1151A>T) c.35A>T (p.Lys12Met) c.1154A>T (p.Lys385Met) c.1379A>T (p.Lys460Met) c.1310A>T (p.Lys437Met) | |
| 11 | g.66850263T>C | CA381492381 | PC | c.2675A>G (p.Lys892Arg) n.290-198A>G c.*684A>G (n.*684A>G) c.*1151A>G (n.*1151A>G) c.35A>G (p.Lys12Arg) c.1154A>G (p.Lys385Arg) c.1379A>G (p.Lys460Arg) c.1310A>G (p.Lys437Arg) | |
| 11 | g.66850263T>G | CA6131019 | PC | c.2675A>C (p.Lys892Thr) n.290-198A>C c.*684A>C (n.*684A>C) c.*1151A>C (n.*1151A>C) c.35A>C (p.Lys12Thr) c.1154A>C (p.Lys385Thr) c.1379A>C (p.Lys460Thr) c.1310A>C (p.Lys437Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850263T= | CA1979879320 | PC | c.2675A= (p.Lys892=) n.290-198A= c.*684A= (n.*684A=) c.*1151A= (n.*1151A=) c.35A= (p.Lys12=) c.1154A= (p.Lys385=) c.1379A= (p.Lys460=) c.1310A= (p.Lys437=) | |
| 11 | g.66850264T>A | CA381492382 | PC | c.2674A>T (p.Lys892Ter) n.290-199A>T c.*683A>T (n.*683A>T) c.*1150A>T (n.*1150A>T) c.34A>T (p.Lys12Ter) c.1153A>T (p.Lys385Ter) c.1378A>T (p.Lys460Ter) c.1309A>T (p.Lys437Ter) | ClinVar |
| 11 | g.66850264T>C | CA6131020 | PC | c.2674A>G (p.Lys892Glu) n.290-199A>G c.*683A>G (n.*683A>G) c.*1150A>G (n.*1150A>G) c.34A>G (p.Lys12Glu) c.1153A>G (p.Lys385Glu) c.1378A>G (p.Lys460Glu) c.1309A>G (p.Lys437Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850264T>G | CA381492383 | PC | c.2674A>C (p.Lys892Gln) n.290-199A>C c.*683A>C (n.*683A>C) c.*1150A>C (n.*1150A>C) c.34A>C (p.Lys12Gln) c.1153A>C (p.Lys385Gln) c.1378A>C (p.Lys460Gln) c.1309A>C (p.Lys437Gln) | |
| 11 | g.66850264T= | CA1979879323 | PC | c.2674A= (p.Lys892=) n.290-199A= c.*683A= (n.*683A=) c.*1150A= (n.*1150A=) c.34A= (p.Lys12=) c.1153A= (p.Lys385=) c.1378A= (p.Lys460=) c.1309A= (p.Lys437=) | |
| 11 | g.66850265C>A | CA381492384 | PC | c.2673G>T (p.Lys891Asn) n.290-200G>T c.*682G>T (n.*682G>T) c.*1149G>T (n.*1149G>T) c.33G>T (p.Lys11Asn) c.1152G>T (p.Lys384Asn) c.1377G>T (p.Lys459Asn) c.1308G>T (p.Lys436Asn) | |
| 11 | g.66850265C>G | CA381492386 | PC | c.2673G>C (p.Lys891Asn) n.290-200G>C c.*682G>C (n.*682G>C) c.*1149G>C (n.*1149G>C) c.33G>C (p.Lys11Asn) c.1152G>C (p.Lys384Asn) c.1377G>C (p.Lys459Asn) c.1308G>C (p.Lys436Asn) | |
| 11 | g.66850265C>T | CA475501320 | PC | c.2673G>A (p.Lys891=) n.290-200G>A c.*682G>A (n.*682G>A) c.*1149G>A (n.*1149G>A) c.33G>A (p.Lys11=) c.1152G>A (p.Lys384=) c.1377G>A (p.Lys459=) c.1308G>A (p.Lys436=) | gnomAD v4 |
| 11 | g.66850266T>A | CA381492389 | PC | c.2672A>T (p.Lys891Met) n.290-201A>T c.*681A>T (n.*681A>T) c.*1148A>T (n.*1148A>T) c.32A>T (p.Lys11Met) c.1151A>T (p.Lys384Met) c.1376A>T (p.Lys459Met) c.1307A>T (p.Lys436Met) | |
| 11 | g.66850266T>C | CA381492390 | PC | c.2672A>G (p.Lys891Arg) n.290-201A>G c.*681A>G (n.*681A>G) c.*1148A>G (n.*1148A>G) c.32A>G (p.Lys11Arg) c.1151A>G (p.Lys384Arg) c.1376A>G (p.Lys459Arg) c.1307A>G (p.Lys436Arg) | |
| 11 | g.66850266T>G | CA381492387 | PC | c.2672A>C (p.Lys891Thr) n.290-201A>C c.*681A>C (n.*681A>C) c.*1148A>C (n.*1148A>C) c.32A>C (p.Lys11Thr) c.1151A>C (p.Lys384Thr) c.1376A>C (p.Lys459Thr) c.1307A>C (p.Lys436Thr) | |
| 11 | g.66850267T>A | CA381492392 | PC | c.2671A>T (p.Lys891Ter) n.290-202A>T c.*680A>T (n.*680A>T) c.*1147A>T (n.*1147A>T) c.31A>T (p.Lys11Ter) c.1150A>T (p.Lys384Ter) c.1375A>T (p.Lys459Ter) c.1306A>T (p.Lys436Ter) | |
| 11 | g.66850267T>C | CA381492393 | PC | c.2671A>G (p.Lys891Glu) n.290-202A>G c.*680A>G (n.*680A>G) c.*1147A>G (n.*1147A>G) c.31A>G (p.Lys11Glu) c.1150A>G (p.Lys384Glu) c.1375A>G (p.Lys459Glu) c.1306A>G (p.Lys436Glu) | |
| 11 | g.66850267T>G | CA381492394 | PC | c.2671A>C (p.Lys891Gln) n.290-202A>C c.*680A>C (n.*680A>C) c.*1147A>C (n.*1147A>C) c.31A>C (p.Lys11Gln) c.1150A>C (p.Lys384Gln) c.1375A>C (p.Lys459Gln) c.1306A>C (p.Lys436Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850267T= | CA1979879327 | PC | c.2671A= (p.Lys891=) n.290-202A= c.*680A= (n.*680A=) c.*1147A= (n.*1147A=) c.31A= (p.Lys11=) c.1150A= (p.Lys384=) c.1375A= (p.Lys459=) c.1306A= (p.Lys436=) | |
| 11 | g.66850268G>A | CA475501323 | PC | c.2670C>T (p.Val890=) n.290-203C>T c.*679C>T (n.*679C>T) c.*1146C>T (n.*1146C>T) c.30C>T (p.Val10=) c.1149C>T (p.Val383=) c.1374C>T (p.Val458=) c.1305C>T (p.Val435=) | |
| 11 | g.66850268G>C | CA475501324 | PC | c.2670C>G (p.Val890=) n.290-203C>G c.*679C>G (n.*679C>G) c.*1146C>G (n.*1146C>G) c.30C>G (p.Val10=) c.1149C>G (p.Val383=) c.1374C>G (p.Val458=) c.1305C>G (p.Val435=) | |
| 11 | g.66850268G>T | CA475501325 | PC | c.2670C>A (p.Val890=) n.290-203C>A c.*679C>A (n.*679C>A) c.*1146C>A (n.*1146C>A) c.30C>A (p.Val10=) c.1149C>A (p.Val383=) c.1374C>A (p.Val458=) c.1305C>A (p.Val435=) | |
| 11 | g.66850269A>C | CA381492396 | PC | c.2669T>G (p.Val890Gly) n.290-204T>G c.*678T>G (n.*678T>G) c.*1145T>G (n.*1145T>G) c.29T>G (p.Val10Gly) c.1148T>G (p.Val383Gly) c.1373T>G (p.Val458Gly) c.1304T>G (p.Val435Gly) | |
| 11 | g.66850269A>G | CA381492397 | PC | c.2669T>C (p.Val890Ala) n.290-204T>C c.*678T>C (n.*678T>C) c.*1145T>C (n.*1145T>C) c.29T>C (p.Val10Ala) c.1148T>C (p.Val383Ala) c.1373T>C (p.Val458Ala) c.1304T>C (p.Val435Ala) | |
| 11 | g.66850269A>T | CA381492398 | PC | c.2669T>A (p.Val890Asp) n.290-204T>A c.*678T>A (n.*678T>A) c.*1145T>A (n.*1145T>A) c.29T>A (p.Val10Asp) c.1148T>A (p.Val383Asp) c.1373T>A (p.Val458Asp) c.1304T>A (p.Val435Asp) | dbSNP |
| 11 | g.66850270C>A | CA381492401 | PC | c.2668G>T (p.Val890Phe) n.290-205G>T c.*677G>T (n.*677G>T) c.*1144G>T (n.*1144G>T) c.28G>T (p.Val10Phe) c.1147G>T (p.Val383Phe) c.1372G>T (p.Val458Phe) c.1303G>T (p.Val435Phe) | ClinVar dbSNP |
| 11 | g.66850270C= | CA1979879332 | PC | c.2668G= (p.Val890=) n.290-205G= c.*677G= (n.*677G=) c.*1144G= (n.*1144G=) c.28G= (p.Val10=) c.1147G= (p.Val383=) c.1372G= (p.Val458=) c.1303G= (p.Val435=) | |
| 11 | g.66850270C>G | CA381492399 | PC | c.2668G>C (p.Val890Leu) n.290-205G>C c.*677G>C (n.*677G>C) c.*1144G>C (n.*1144G>C) c.28G>C (p.Val10Leu) c.1147G>C (p.Val383Leu) c.1372G>C (p.Val458Leu) c.1303G>C (p.Val435Leu) | |
| 11 | g.66850270C>T | CA381492400 | PC | c.2668G>A (p.Val890Ile) n.290-205G>A c.*677G>A (n.*677G>A) c.*1144G>A (n.*1144G>A) c.28G>A (p.Val10Ile) c.1147G>A (p.Val383Ile) c.1372G>A (p.Val458Ile) c.1303G>A (p.Val435Ile) | dbSNP gnomAD v4 |
| 11 | g.66850273_66850275del | CA2574890787 | PC | c.2666_2668del (p.Glu889del) n.290-207_290-205del c.*675_*677del (n.*675_*677del) c.*1142_*1144del (n.*1142_*1144del) c.26_28del (p.Glu9del) c.1145_1147del (p.Glu382del) c.1370_1372del (p.Glu457del) c.1301_1303del (p.Glu434del) | |
| 11 | g.66850271C>A | CA381492403 | PC | c.2667G>T (p.Glu889Asp) n.290-206G>T c.*676G>T (n.*676G>T) c.*1143G>T (n.*1143G>T) c.27G>T (p.Glu9Asp) c.1146G>T (p.Glu382Asp) c.1371G>T (p.Glu457Asp) c.1302G>T (p.Glu434Asp) | |
| 11 | g.66850271C= | CA1979879338 | PC | c.2667G= (p.Glu889=) n.290-206G= c.*676G= (n.*676G=) c.*1143G= (n.*1143G=) c.27G= (p.Glu9=) c.1146G= (p.Glu382=) c.1371G= (p.Glu457=) c.1302G= (p.Glu434=) | |
| 11 | g.66850271C>G | CA224122526 | PC | c.2667G>C (p.Glu889Asp) n.290-206G>C c.*676G>C (n.*676G>C) c.*1143G>C (n.*1143G>C) c.27G>C (p.Glu9Asp) c.1146G>C (p.Glu382Asp) c.1371G>C (p.Glu457Asp) c.1302G>C (p.Glu434Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850271C>T | CA475501327 | PC | c.2667G>A (p.Glu889=) n.290-206G>A c.*676G>A (n.*676G>A) c.*1143G>A (n.*1143G>A) c.27G>A (p.Glu9=) c.1146G>A (p.Glu382=) c.1371G>A (p.Glu457=) c.1302G>A (p.Glu434=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850272T>A | CA381492404 | PC | c.2666A>T (p.Glu889Val) n.290-207A>T c.*675A>T (n.*675A>T) c.*1142A>T (n.*1142A>T) c.26A>T (p.Glu9Val) c.1145A>T (p.Glu382Val) c.1370A>T (p.Glu457Val) c.1301A>T (p.Glu434Val) | gnomAD v4 |
| 11 | g.66850272T>C | CA381492406 | PC | c.2666A>G (p.Glu889Gly) n.290-207A>G c.*675A>G (n.*675A>G) c.*1142A>G (n.*1142A>G) c.26A>G (p.Glu9Gly) c.1145A>G (p.Glu382Gly) c.1370A>G (p.Glu457Gly) c.1301A>G (p.Glu434Gly) | |
| 11 | g.66850272T>G | CA381492408 | PC | c.2666A>C (p.Glu889Ala) n.290-207A>C c.*675A>C (n.*675A>C) c.*1142A>C (n.*1142A>C) c.26A>C (p.Glu9Ala) c.1145A>C (p.Glu382Ala) c.1370A>C (p.Glu457Ala) c.1301A>C (p.Glu434Ala) | gnomAD v4 |
| 11 | g.66850273C>A | CA381492411 | PC | c.2665G>T (p.Glu889Ter) n.290-208G>T c.*674G>T (n.*674G>T) c.*1141G>T (n.*1141G>T) c.25G>T (p.Glu9Ter) c.1144G>T (p.Glu382Ter) c.1369G>T (p.Glu457Ter) c.1300G>T (p.Glu434Ter) | |
| 11 | g.66850273C= | CA1979879342 | PC | c.2665G= (p.Glu889=) n.290-208G= c.*674G= (n.*674G=) c.*1141G= (n.*1141G=) c.25G= (p.Glu9=) c.1144G= (p.Glu382=) c.1369G= (p.Glu457=) c.1300G= (p.Glu434=) | |
| 11 | g.66850273C>G | CA381492409 | PC | c.2665G>C (p.Glu889Gln) n.290-208G>C c.*674G>C (n.*674G>C) c.*1141G>C (n.*1141G>C) c.25G>C (p.Glu9Gln) c.1144G>C (p.Glu382Gln) c.1369G>C (p.Glu457Gln) c.1300G>C (p.Glu434Gln) | gnomAD v4 |
| 11 | g.66850273C>T | CA381492410 | PC | c.2665G>A (p.Glu889Lys) n.290-208G>A c.*674G>A (n.*674G>A) c.*1141G>A (n.*1141G>A) c.25G>A (p.Glu9Lys) c.1144G>A (p.Glu382Lys) c.1369G>A (p.Glu457Lys) c.1300G>A (p.Glu434Lys) | dbSNP |
| 11 | g.66850274C>A | CA381492413 | PC | c.2664G>T (p.Lys888Asn) n.290-209G>T c.*673G>T (n.*673G>T) c.*1140G>T (n.*1140G>T) c.24G>T (p.Lys8Asn) c.1143G>T (p.Lys381Asn) c.1368G>T (p.Lys456Asn) c.1299G>T (p.Lys433Asn) | |
| 11 | g.66850274C>G | CA381492415 | PC | c.2664G>C (p.Lys888Asn) n.290-209G>C c.*673G>C (n.*673G>C) c.*1140G>C (n.*1140G>C) c.24G>C (p.Lys8Asn) c.1143G>C (p.Lys381Asn) c.1368G>C (p.Lys456Asn) c.1299G>C (p.Lys433Asn) | |
| 11 | g.66850274C>T | CA475501331 | PC | c.2664G>A (p.Lys888=) n.290-209G>A c.*673G>A (n.*673G>A) c.*1140G>A (n.*1140G>A) c.24G>A (p.Lys8=) c.1143G>A (p.Lys381=) c.1368G>A (p.Lys456=) c.1299G>A (p.Lys433=) | |
| 11 | g.66850275T>A | CA381492417 | PC | c.2663A>T (p.Lys888Met) n.290-210A>T c.*672A>T (n.*672A>T) c.*1139A>T (n.*1139A>T) c.23A>T (p.Lys8Met) c.1142A>T (p.Lys381Met) c.1367A>T (p.Lys456Met) c.1298A>T (p.Lys433Met) | |
| 11 | g.66850275T>C | CA381492418 | PC | c.2663A>G (p.Lys888Arg) n.290-210A>G c.*672A>G (n.*672A>G) c.*1139A>G (n.*1139A>G) c.23A>G (p.Lys8Arg) c.1142A>G (p.Lys381Arg) c.1367A>G (p.Lys456Arg) c.1298A>G (p.Lys433Arg) | gnomAD v4 |
| 11 | g.66850275T>G | CA381492419 | PC | c.2663A>C (p.Lys888Thr) n.290-210A>C c.*672A>C (n.*672A>C) c.*1139A>C (n.*1139A>C) c.23A>C (p.Lys8Thr) c.1142A>C (p.Lys381Thr) c.1367A>C (p.Lys456Thr) c.1298A>C (p.Lys433Thr) | |
| 11 | g.66850276T>A | CA381492420 | PC | c.2662A>T (p.Lys888Ter) n.290-211A>T c.*671A>T (n.*671A>T) c.*1138A>T (n.*1138A>T) c.22A>T (p.Lys8Ter) c.1141A>T (p.Lys381Ter) c.1366A>T (p.Lys456Ter) c.1297A>T (p.Lys433Ter) | |
| 11 | g.66850276T>C | CA381492421 | PC | c.2662A>G (p.Lys888Glu) n.290-211A>G c.*671A>G (n.*671A>G) c.*1138A>G (n.*1138A>G) c.22A>G (p.Lys8Glu) c.1141A>G (p.Lys381Glu) c.1366A>G (p.Lys456Glu) c.1297A>G (p.Lys433Glu) | gnomAD v4 |
| 11 | g.66850276T>G | CA381492422 | PC | c.2662A>C (p.Lys888Gln) n.290-211A>C c.*671A>C (n.*671A>C) c.*1138A>C (n.*1138A>C) c.22A>C (p.Lys8Gln) c.1141A>C (p.Lys381Gln) c.1366A>C (p.Lys456Gln) c.1297A>C (p.Lys433Gln) | |
| 11 | g.66850277G>A | CA475501334 | PC | c.2661C>T (p.Phe887=) n.290-212C>T c.*670C>T (n.*670C>T) c.*1137C>T (n.*1137C>T) c.21C>T (p.Phe7=) c.1140C>T (p.Phe380=) c.1365C>T (p.Phe455=) c.1296C>T (p.Phe432=) | ClinVar |
| 11 | g.66850277G>C | CA381492424 | PC | c.2661C>G (p.Phe887Leu) n.290-212C>G c.*670C>G (n.*670C>G) c.*1137C>G (n.*1137C>G) c.21C>G (p.Phe7Leu) c.1140C>G (p.Phe380Leu) c.1365C>G (p.Phe455Leu) c.1296C>G (p.Phe432Leu) | gnomAD v4 |
| 11 | g.66850277G>T | CA381492425 | PC | c.2661C>A (p.Phe887Leu) n.290-212C>A c.*670C>A (n.*670C>A) c.*1137C>A (n.*1137C>A) c.21C>A (p.Phe7Leu) c.1140C>A (p.Phe380Leu) c.1365C>A (p.Phe455Leu) c.1296C>A (p.Phe432Leu) | |
| 11 | g.66850278A>C | CA381492426 | PC | c.2660T>G (p.Phe887Cys) n.290-213T>G c.*669T>G (n.*669T>G) c.*1136T>G (n.*1136T>G) c.20T>G (p.Phe7Cys) c.1139T>G (p.Phe380Cys) c.1364T>G (p.Phe455Cys) c.1295T>G (p.Phe432Cys) | |
| 11 | g.66850278A>G | CA381492427 | PC | c.2660T>C (p.Phe887Ser) n.290-213T>C c.*669T>C (n.*669T>C) c.*1136T>C (n.*1136T>C) c.20T>C (p.Phe7Ser) c.1139T>C (p.Phe380Ser) c.1364T>C (p.Phe455Ser) c.1295T>C (p.Phe432Ser) | |
| 11 | g.66850278A>T | CA381492428 | PC | c.2660T>A (p.Phe887Tyr) n.290-213T>A c.*669T>A (n.*669T>A) c.*1136T>A (n.*1136T>A) c.20T>A (p.Phe7Tyr) c.1139T>A (p.Phe380Tyr) c.1364T>A (p.Phe455Tyr) c.1295T>A (p.Phe432Tyr) | |
| 11 | g.66850279A>C | CA381492434 | PC | c.2659T>G (p.Phe887Val) n.290-214T>G c.*668T>G (n.*668T>G) c.*1135T>G (n.*1135T>G) c.19T>G (p.Phe7Val) c.1138T>G (p.Phe380Val) c.1363T>G (p.Phe455Val) c.1294T>G (p.Phe432Val) | |
| 11 | g.66850279A>G | CA381492430 | PC | c.2659T>C (p.Phe887Leu) n.290-214T>C c.*668T>C (n.*668T>C) c.*1135T>C (n.*1135T>C) c.19T>C (p.Phe7Leu) c.1138T>C (p.Phe380Leu) c.1363T>C (p.Phe455Leu) c.1294T>C (p.Phe432Leu) | |
| 11 | g.66850279A>T | CA381492432 | PC | c.2659T>A (p.Phe887Ile) n.290-214T>A c.*668T>A (n.*668T>A) c.*1135T>A (n.*1135T>A) c.19T>A (p.Phe7Ile) c.1138T>A (p.Phe380Ile) c.1363T>A (p.Phe455Ile) c.1294T>A (p.Phe432Ile) | |
| 11 | g.66850280del | CA2614541581 | PC | c.2658del (p.Lys886AsnfsTer22) n.290-215del c.*667del (n.*667del) c.*1134del (n.*1134del) c.18del (p.Lys6AsnfsTer22) c.1137del (p.Lys379AsnfsTer22) c.1362del (p.Lys454AsnfsTer22) c.1293del (p.Lys431AsnfsTer22) | gnomAD v4 |
| 11 | g.66850280C>A | CA381492435 | PC | c.2658G>T (p.Lys886Asn) n.290-215G>T c.*667G>T (n.*667G>T) c.*1134G>T (n.*1134G>T) c.18G>T (p.Lys6Asn) c.1137G>T (p.Lys379Asn) c.1362G>T (p.Lys454Asn) c.1293G>T (p.Lys431Asn) | |
| 11 | g.66850280C>G | CA381492436 | PC | c.2658G>C (p.Lys886Asn) n.290-215G>C c.*667G>C (n.*667G>C) c.*1134G>C (n.*1134G>C) c.18G>C (p.Lys6Asn) c.1137G>C (p.Lys379Asn) c.1362G>C (p.Lys454Asn) c.1293G>C (p.Lys431Asn) | |
| 11 | g.66850280C>T | CA475501335 | PC | c.2658G>A (p.Lys886=) n.290-215G>A c.*667G>A (n.*667G>A) c.*1134G>A (n.*1134G>A) c.18G>A (p.Lys6=) c.1137G>A (p.Lys379=) c.1362G>A (p.Lys454=) c.1293G>A (p.Lys431=) | |
| 11 | g.66850281T>A | CA381492439 | PC | c.2657A>T (p.Lys886Met) n.290-216A>T c.*666A>T (n.*666A>T) c.*1133A>T (n.*1133A>T) c.17A>T (p.Lys6Met) c.1136A>T (p.Lys379Met) c.1361A>T (p.Lys454Met) c.1292A>T (p.Lys431Met) | |
| 11 | g.66850281T>C | CA312863 | PC | c.2657A>G (p.Lys886Arg) n.290-216A>G c.*666A>G (n.*666A>G) c.*1133A>G (n.*1133A>G) c.17A>G (p.Lys6Arg) c.1136A>G (p.Lys379Arg) c.1361A>G (p.Lys454Arg) c.1292A>G (p.Lys431Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850281T>G | CA381492441 | PC | c.2657A>C (p.Lys886Thr) n.290-216A>C c.*666A>C (n.*666A>C) c.*1133A>C (n.*1133A>C) c.17A>C (p.Lys6Thr) c.1136A>C (p.Lys379Thr) c.1361A>C (p.Lys454Thr) c.1292A>C (p.Lys431Thr) | COSMIC |
| 11 | g.66850281T= | CA1979879346 | PC | c.2657A= (p.Lys886=) n.290-216A= c.*666A= (n.*666A=) c.*1133A= (n.*1133A=) c.17A= (p.Lys6=) c.1136A= (p.Lys379=) c.1361A= (p.Lys454=) c.1292A= (p.Lys431=) | |
| 11 | g.66850282T>A | CA381492442 | PC | c.2656A>T (p.Lys886Ter) n.290-217A>T c.*665A>T (n.*665A>T) c.*1132A>T (n.*1132A>T) c.16A>T (p.Lys6Ter) c.1135A>T (p.Lys379Ter) c.1360A>T (p.Lys454Ter) c.1291A>T (p.Lys431Ter) | |
| 11 | g.66850282T>C | CA381492444 | PC | c.2656A>G (p.Lys886Glu) n.290-217A>G c.*665A>G (n.*665A>G) c.*1132A>G (n.*1132A>G) c.16A>G (p.Lys6Glu) c.1135A>G (p.Lys379Glu) c.1360A>G (p.Lys454Glu) c.1291A>G (p.Lys431Glu) | |
| 11 | g.66850282T>G | CA381492445 | PC | c.2656A>C (p.Lys886Gln) n.290-217A>C c.*665A>C (n.*665A>C) c.*1132A>C (n.*1132A>C) c.16A>C (p.Lys6Gln) c.1135A>C (p.Lys379Gln) c.1360A>C (p.Lys454Gln) c.1291A>C (p.Lys431Gln) | |
| 11 | g.66850283G>A | CA475500692 | PC | c.2655C>T (p.Ser885=) n.290-218C>T c.*664C>T (n.*664C>T) c.*1131C>T (n.*1131C>T) c.15C>T (p.Ser5=) c.1134C>T (p.Ser378=) c.1359C>T (p.Ser453=) c.1290C>T (p.Ser430=) | |
| 11 | g.66850283G>C | CA475500693 | PC | c.2655C>G (p.Ser885=) n.290-218C>G c.*664C>G (n.*664C>G) c.*1131C>G (n.*1131C>G) c.15C>G (p.Ser5=) c.1134C>G (p.Ser378=) c.1359C>G (p.Ser453=) c.1290C>G (p.Ser430=) | |
| 11 | g.66850283G>T | CA475500694 | PC | c.2655C>A (p.Ser885=) n.290-218C>A c.*664C>A (n.*664C>A) c.*1131C>A (n.*1131C>A) c.15C>A (p.Ser5=) c.1134C>A (p.Ser378=) c.1359C>A (p.Ser453=) c.1290C>A (p.Ser430=) | |
| 11 | g.66850283_66850284del | CA2792479706 | PC | c.2654_2655del (p.Ser885Ter) n.290-219_290-218del c.*663_*664del (n.*663_*664del) c.*1130_*1131del (n.*1130_*1131del) c.14_15del (p.Ser5Ter) c.1133_1134del (p.Ser378Ter) c.1358_1359del (p.Ser453Ter) c.1289_1290del (p.Ser430Ter) | |
| 11 | g.66850284dup | CA2614541584 | PC | c.2655dup (p.Lys886GlnfsTer?) n.290-218dup c.*664dup (n.*664dup) c.*1131dup (n.*1131dup) c.15dup (p.Lys6GlnfsTer?) c.1134dup (p.Lys379GlnfsTer?) c.1359dup (p.Lys454GlnfsTer?) c.1290dup (p.Lys431GlnfsTer?) | gnomAD v4 |
| 11 | g.66850284G>A | CA381492446 | PC | c.2654C>T (p.Ser885Phe) n.290-219C>T c.*663C>T (n.*663C>T) c.*1130C>T (n.*1130C>T) c.14C>T (p.Ser5Phe) c.1133C>T (p.Ser378Phe) c.1358C>T (p.Ser453Phe) c.1289C>T (p.Ser430Phe) | dbSNP gnomAD v4 |
| 11 | g.66850284G>C | CA6131021 | PC | c.2654C>G (p.Ser885Cys) n.290-219C>G c.*663C>G (n.*663C>G) c.*1130C>G (n.*1130C>G) c.14C>G (p.Ser5Cys) c.1133C>G (p.Ser378Cys) c.1358C>G (p.Ser453Cys) c.1289C>G (p.Ser430Cys) | dbSNP ExAC |
| 11 | g.66850284G= | CA1979879351 | PC | c.2654C= (p.Ser885=) n.290-219C= c.*663C= (n.*663C=) c.*1130C= (n.*1130C=) c.14C= (p.Ser5=) c.1133C= (p.Ser378=) c.1358C= (p.Ser453=) c.1289C= (p.Ser430=) | |
| 11 | g.66850284G>T | CA381492447 | PC | c.2654C>A (p.Ser885Tyr) n.290-219C>A c.*663C>A (n.*663C>A) c.*1130C>A (n.*1130C>A) c.14C>A (p.Ser5Tyr) c.1133C>A (p.Ser378Tyr) c.1358C>A (p.Ser453Tyr) c.1289C>A (p.Ser430Tyr) | |
| 11 | g.66850285A= | CA1979879355 | PC | c.2653T= (p.Ser885=) n.290-220T= c.*662T= (n.*662T=) c.*1129T= (n.*1129T=) c.13T= (p.Ser5=) c.1132T= (p.Ser378=) c.1357T= (p.Ser453=) c.1288T= (p.Ser430=) | |
| 11 | g.66850285A>C | CA381492448 | PC | c.2653T>G (p.Ser885Ala) n.290-220T>G c.*662T>G (n.*662T>G) c.*1129T>G (n.*1129T>G) c.13T>G (p.Ser5Ala) c.1132T>G (p.Ser378Ala) c.1357T>G (p.Ser453Ala) c.1288T>G (p.Ser430Ala) | |
| 11 | g.66850285A>G | CA381492450 | PC | c.2653T>C (p.Ser885Pro) n.290-220T>C c.*662T>C (n.*662T>C) c.*1129T>C (n.*1129T>C) c.13T>C (p.Ser5Pro) c.1132T>C (p.Ser378Pro) c.1357T>C (p.Ser453Pro) c.1288T>C (p.Ser430Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850285A>T | CA381492452 | PC | c.2653T>A (p.Ser885Thr) n.290-220T>A c.*662T>A (n.*662T>A) c.*1129T>A (n.*1129T>A) c.13T>A (p.Ser5Thr) c.1132T>A (p.Ser378Thr) c.1357T>A (p.Ser453Thr) c.1288T>A (p.Ser430Thr) | |
| 11 | g.66850285_66850286insT | CA2792479709 | PC | c.2652_2653insA (p.Ser885IlefsTer?) n.290-221_290-220insA c.*661_*662insA (n.*661_*662insA) c.*1128_*1129insA (n.*1128_*1129insA) c.12_13insA (p.Ser5IlefsTer?) c.1131_1132insA (p.Ser378IlefsTer?) c.1356_1357insA (p.Ser453IlefsTer?) c.1287_1288insA (p.Ser430IlefsTer?) | |
| 11 | g.66850286G>A | CA6131022 | PC | c.2652C>T (p.Gly884=) n.290-221C>T c.*661C>T (n.*661C>T) c.*1128C>T (n.*1128C>T) c.12C>T (p.Gly4=) c.1131C>T (p.Gly377=) c.1356C>T (p.Gly452=) c.1287C>T (p.Gly429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850286G>C | CA475500698 | PC | c.2652C>G (p.Gly884=) n.290-221C>G c.*661C>G (n.*661C>G) c.*1128C>G (n.*1128C>G) c.12C>G (p.Gly4=) c.1131C>G (p.Gly377=) c.1356C>G (p.Gly452=) c.1287C>G (p.Gly429=) | |
| 11 | g.66850286G= | CA1979879360 | PC | c.2652C= (p.Gly884=) n.290-221C= c.*661C= (n.*661C=) c.*1128C= (n.*1128C=) c.12C= (p.Gly4=) c.1131C= (p.Gly377=) c.1356C= (p.Gly452=) c.1287C= (p.Gly429=) | |
| 11 | g.66850286G>T | CA475500697 | PC | c.2652C>A (p.Gly884=) n.290-221C>A c.*661C>A (n.*661C>A) c.*1128C>A (n.*1128C>A) c.12C>A (p.Gly4=) c.1131C>A (p.Gly377=) c.1356C>A (p.Gly452=) c.1287C>A (p.Gly429=) | |
| 11 | g.66850287C>A | CA381492454 | PC | c.2651G>T (p.Gly884Val) n.290-222G>T c.*660G>T (n.*660G>T) c.*1127G>T (n.*1127G>T) c.11G>T (p.Gly4Val) c.1130G>T (p.Gly377Val) c.1355G>T (p.Gly452Val) c.1286G>T (p.Gly429Val) | |
| 11 | g.66850287C= | CA1979879371 | PC | c.2651G= (p.Gly884=) n.290-222G= c.*660G= (n.*660G=) c.*1127G= (n.*1127G=) c.11G= (p.Gly4=) c.1130G= (p.Gly377=) c.1355G= (p.Gly452=) c.1286G= (p.Gly429=) | |
| 11 | g.66850287C>G | CA381492456 | PC | c.2651G>C (p.Gly884Ala) n.290-222G>C c.*660G>C (n.*660G>C) c.*1127G>C (n.*1127G>C) c.11G>C (p.Gly4Ala) c.1130G>C (p.Gly377Ala) c.1355G>C (p.Gly452Ala) c.1286G>C (p.Gly429Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850287C>T | CA381492458 | PC | c.2651G>A (p.Gly884Asp) n.290-222G>A c.*660G>A (n.*660G>A) c.*1127G>A (n.*1127G>A) c.11G>A (p.Gly4Asp) c.1130G>A (p.Gly377Asp) c.1355G>A (p.Gly452Asp) c.1286G>A (p.Gly429Asp) | dbSNP COSMIC |
| 11 | g.66850288dup | CA2792479710 | PC | c.2651dup (p.Ser885LeufsTer?) n.290-222dup c.*660dup (n.*660dup) c.*1127dup (n.*1127dup) c.11dup (p.Ser5LeufsTer?) c.1130dup (p.Ser378LeufsTer?) c.1355dup (p.Ser453LeufsTer?) c.1286dup (p.Ser430LeufsTer?) | |
| 11 | g.66850288C>A | CA381492461 | PC | c.2650G>T (p.Gly884Cys) n.290-223G>T c.*659G>T (n.*659G>T) c.*1126G>T (n.*1126G>T) c.10G>T (p.Gly4Cys) c.1129G>T (p.Gly377Cys) c.1354G>T (p.Gly452Cys) c.1285G>T (p.Gly429Cys) | |
| 11 | g.66850288C>G | CA381492466 | PC | c.2650G>C (p.Gly884Arg) n.290-223G>C c.*659G>C (n.*659G>C) c.*1126G>C (n.*1126G>C) c.10G>C (p.Gly4Arg) c.1129G>C (p.Gly377Arg) c.1354G>C (p.Gly452Arg) c.1285G>C (p.Gly429Arg) | |
| 11 | g.66850288C>T | CA381492468 | PC | c.2650G>A (p.Gly884Ser) n.290-223G>A c.*659G>A (n.*659G>A) c.*1126G>A (n.*1126G>A) c.10G>A (p.Gly4Ser) c.1129G>A (p.Gly377Ser) c.1354G>A (p.Gly452Ser) c.1285G>A (p.Gly429Ser) | |
| 11 | g.66850288_66850289delinsCA | CA1979879373 | PC | c.2649_2650delinsTG (p.Leu883=) n.290-224_290-223delinsTG c.*658_*659delinsTG (n.*658_*659delinsTG) c.*1125_*1126delinsTG (n.*1125_*1126delinsTG) c.9_10delinsTG (p.Leu3=) c.1128_1129delinsTG (p.Leu376=) c.1353_1354delinsTG (p.Leu451=) c.1284_1285delinsTG (p.Leu428=) | |
| 11 | g.66850289A= | CA1979879378 | PC | c.2649T= (p.Leu883=) n.290-224T= c.*658T= (n.*658T=) c.*1125T= (n.*1125T=) c.9T= (p.Leu3=) c.1128T= (p.Leu376=) c.1353T= (p.Leu451=) c.1284T= (p.Leu428=) | |
| 11 | g.66850289A>C | CA475500702 | PC | c.2649T>G (p.Leu883=) n.290-224T>G c.*658T>G (n.*658T>G) c.*1125T>G (n.*1125T>G) c.9T>G (p.Leu3=) c.1128T>G (p.Leu376=) c.1353T>G (p.Leu451=) c.1284T>G (p.Leu428=) | |
| 11 | g.66850289A>G | CA475500703 | PC | c.2649T>C (p.Leu883=) n.290-224T>C c.*658T>C (n.*658T>C) c.*1125T>C (n.*1125T>C) c.9T>C (p.Leu3=) c.1128T>C (p.Leu376=) c.1353T>C (p.Leu451=) c.1284T>C (p.Leu428=) | dbSNP |
| 11 | g.66850289A>T | CA475500704 | PC | c.2649T>A (p.Leu883=) n.290-224T>A c.*658T>A (n.*658T>A) c.*1125T>A (n.*1125T>A) c.9T>A (p.Leu3=) c.1128T>A (p.Leu376=) c.1353T>A (p.Leu451=) c.1284T>A (p.Leu428=) | |
| 11 | g.66850290del | CA224122557 | PC | c.2649del (p.Gly884AlafsTer24) n.290-224del c.*658del (n.*658del) c.*1125del (n.*1125del) c.9del (p.Gly4AlafsTer24) c.1128del (p.Gly377AlafsTer24) c.1353del (p.Gly452AlafsTer24) c.1284del (p.Gly429AlafsTer24) | dbSNP |
| 11 | g.66850290A= | CA1979879381 | PC | c.2648T= (p.Leu883=) n.290-225T= c.*657T= (n.*657T=) c.*1124T= (n.*1124T=) c.8T= (p.Leu3=) c.1127T= (p.Leu376=) c.1352T= (p.Leu451=) c.1283T= (p.Leu428=) | |
| 11 | g.66850290A>C | CA381492471 | PC | c.2648T>G (p.Leu883Arg) n.290-225T>G c.*657T>G (n.*657T>G) c.*1124T>G (n.*1124T>G) c.8T>G (p.Leu3Arg) c.1127T>G (p.Leu376Arg) c.1352T>G (p.Leu451Arg) c.1283T>G (p.Leu428Arg) | |
| 11 | g.66850290A>G | CA6131023 | PC | c.2648T>C (p.Leu883Pro) n.290-225T>C c.*657T>C (n.*657T>C) c.*1124T>C (n.*1124T>C) c.8T>C (p.Leu3Pro) c.1127T>C (p.Leu376Pro) c.1352T>C (p.Leu451Pro) c.1283T>C (p.Leu428Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850290A>T | CA381492473 | PC | c.2648T>A (p.Leu883His) n.290-225T>A c.*657T>A (n.*657T>A) c.*1124T>A (n.*1124T>A) c.8T>A (p.Leu3His) c.1127T>A (p.Leu376His) c.1352T>A (p.Leu451His) c.1283T>A (p.Leu428His) | |
| 11 | g.66850291G>A | CA381492475 | PC | c.2647C>T (p.Leu883Phe) n.290-226C>T c.*656C>T (n.*656C>T) c.*1123C>T (n.*1123C>T) c.7C>T (p.Leu3Phe) c.1126C>T (p.Leu376Phe) c.1351C>T (p.Leu451Phe) c.1282C>T (p.Leu428Phe) | COSMIC |
| 11 | g.66850291G>C | CA381492477 | PC | c.2647C>G (p.Leu883Val) n.290-226C>G c.*656C>G (n.*656C>G) c.*1123C>G (n.*1123C>G) c.7C>G (p.Leu3Val) c.1126C>G (p.Leu376Val) c.1351C>G (p.Leu451Val) c.1282C>G (p.Leu428Val) | |
| 11 | g.66850291G>T | CA381492478 | PC | c.2647C>A (p.Leu883Ile) n.290-226C>A c.*656C>A (n.*656C>A) c.*1123C>A (n.*1123C>A) c.7C>A (p.Leu3Ile) c.1126C>A (p.Leu376Ile) c.1351C>A (p.Leu451Ile) c.1282C>A (p.Leu428Ile) | |
| 11 | g.66850292C>A | CA475500707 | PC | c.2646G>T (p.Gly882=) n.290-227G>T c.*655G>T (n.*655G>T) c.*1122G>T (n.*1122G>T) c.6G>T (p.Gly2=) c.1125G>T (p.Gly375=) c.1350G>T (p.Gly450=) c.1281G>T (p.Gly427=) | gnomAD v4 |
| 11 | g.66850292C>G | CA475500705 | PC | c.2646G>C (p.Gly882=) n.290-227G>C c.*655G>C (n.*655G>C) c.*1122G>C (n.*1122G>C) c.6G>C (p.Gly2=) c.1125G>C (p.Gly375=) c.1350G>C (p.Gly450=) c.1281G>C (p.Gly427=) | |
| 11 | g.66850292C>T | CA475500706 | PC | c.2646G>A (p.Gly882=) n.290-227G>A c.*655G>A (n.*655G>A) c.*1122G>A (n.*1122G>A) c.6G>A (p.Gly2=) c.1125G>A (p.Gly375=) c.1350G>A (p.Gly450=) c.1281G>A (p.Gly427=) | ClinVar dbSNP |
| 11 | g.66850293C>A | CA381492479 | PC | c.2645G>T (p.Gly882Val) n.290-228G>T c.*654G>T (n.*654G>T) c.*1121G>T (n.*1121G>T) c.5G>T (p.Gly2Val) c.1124G>T (p.Gly375Val) c.1349G>T (p.Gly450Val) c.1280G>T (p.Gly427Val) | |
| 11 | g.66850293C>G | CA381492483 | PC | c.2645G>C (p.Gly882Ala) n.290-228G>C c.*654G>C (n.*654G>C) c.*1121G>C (n.*1121G>C) c.5G>C (p.Gly2Ala) c.1124G>C (p.Gly375Ala) c.1349G>C (p.Gly450Ala) c.1280G>C (p.Gly427Ala) | |
| 11 | g.66850293C>T | CA381492482 | PC | c.2645G>A (p.Gly882Glu) n.290-228G>A c.*654G>A (n.*654G>A) c.*1121G>A (n.*1121G>A) c.5G>A (p.Gly2Glu) c.1124G>A (p.Gly375Glu) c.1349G>A (p.Gly450Glu) c.1280G>A (p.Gly427Glu) | |
| 11 | g.66850294C>A | CA381492485 | PC | c.2644G>T (p.Gly882Trp) n.290-229G>T c.*653G>T (n.*653G>T) c.*1120G>T (n.*1120G>T) c.4G>T (p.Gly2Trp) c.1123G>T (p.Gly375Trp) c.1348G>T (p.Gly450Trp) c.1279G>T (p.Gly427Trp) | |
| 11 | g.66850294C>G | CA381492487 | PC | c.2644G>C (p.Gly882Arg) n.290-229G>C c.*653G>C (n.*653G>C) c.*1120G>C (n.*1120G>C) c.4G>C (p.Gly2Arg) c.1123G>C (p.Gly375Arg) c.1348G>C (p.Gly450Arg) c.1279G>C (p.Gly427Arg) | |
| 11 | g.66850294C>T | CA381492488 | PC | c.2644G>A (p.Gly882Arg) n.290-229G>A c.*653G>A (n.*653G>A) c.*1120G>A (n.*1120G>A) c.4G>A (p.Gly2Arg) c.1123G>A (p.Gly375Arg) c.1348G>A (p.Gly450Arg) c.1279G>A (p.Gly427Arg) | |
| 11 | g.66850295C>A | CA381492490 | PC | c.2643G>T (p.Met881Ile) n.290-230G>T c.*652G>T (n.*652G>T) c.*1119G>T (n.*1119G>T) c.3G>T (p.Met1Ile) c.1122G>T (p.Met374Ile) c.1347G>T (p.Met449Ile) c.1278G>T (p.Met426Ile) | |
| 11 | g.66850295C= | CA1979879383 | PC | c.2643G= (p.Met881=) n.290-230G= c.*652G= (n.*652G=) c.*1119G= (n.*1119G=) c.3G= (p.Met1=) c.1122G= (p.Met374=) c.1347G= (p.Met449=) c.1278G= (p.Met426=) | |
| 11 | g.66850295C>G | CA381492491 | PC | c.2643G>C (p.Met881Ile) n.290-230G>C c.*652G>C (n.*652G>C) c.*1119G>C (n.*1119G>C) c.3G>C (p.Met1Ile) c.1122G>C (p.Met374Ile) c.1347G>C (p.Met449Ile) c.1278G>C (p.Met426Ile) | dbSNP |
| 11 | g.66850295C>T | CA381492492 | PC | c.2643G>A (p.Met881Ile) n.290-230G>A c.*652G>A (n.*652G>A) c.*1119G>A (n.*1119G>A) c.3G>A (p.Met1Ile) c.1122G>A (p.Met374Ile) c.1347G>A (p.Met449Ile) c.1278G>A (p.Met426Ile) | gnomAD v4 COSMIC |
| 11 | g.66850296A>C | CA381492495 | PC | c.2642T>G (p.Met881Arg) n.290-231T>G c.*651T>G (n.*651T>G) c.*1118T>G (n.*1118T>G) c.2T>G (p.Met1Arg) c.1121T>G (p.Met374Arg) c.1346T>G (p.Met449Arg) c.1277T>G (p.Met426Arg) | |
| 11 | g.66850296A>G | CA381492494 | PC | c.2642T>C (p.Met881Thr) n.290-231T>C c.*651T>C (n.*651T>C) c.*1118T>C (n.*1118T>C) c.2T>C (p.Met1Thr) c.1121T>C (p.Met374Thr) c.1346T>C (p.Met449Thr) c.1277T>C (p.Met426Thr) | |
| 11 | g.66850296A>T | CA381492493 | PC | c.2642T>A (p.Met881Lys) n.290-231T>A c.*651T>A (n.*651T>A) c.*1118T>A (n.*1118T>A) c.2T>A (p.Met1Lys) c.1121T>A (p.Met374Lys) c.1346T>A (p.Met449Lys) c.1277T>A (p.Met426Lys) | |
| 11 | g.66850297T>A | CA381492496 | PC | c.2641A>T (p.Met881Leu) n.290-232A>T c.*650A>T (n.*650A>T) c.*1117A>T (n.*1117A>T) c.1A>T (p.Met1Leu) c.1120A>T (p.Met374Leu) c.1345A>T (p.Met449Leu) c.1276A>T (p.Met426Leu) | |
| 11 | g.66850297T>C | CA381492498 | PC | c.2641A>G (p.Met881Val) n.290-232A>G c.*650A>G (n.*650A>G) c.*1117A>G (n.*1117A>G) c.1A>G (p.Met1Val) c.1120A>G (p.Met374Val) c.1345A>G (p.Met449Val) c.1276A>G (p.Met426Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850297T>G | CA381492500 | PC | c.2641A>C (p.Met881Leu) n.290-232A>C c.*650A>C (n.*650A>C) c.*1117A>C (n.*1117A>C) c.1A>C (p.Met1Leu) c.1120A>C (p.Met374Leu) c.1345A>C (p.Met449Leu) c.1276A>C (p.Met426Leu) | gnomAD v4 |
| 11 | g.66850297T= | CA1979879386 | PC | c.2641A= (p.Met881=) n.290-232A= c.*650A= (n.*650A=) c.*1117A= (n.*1117A=) c.1A= (p.Met1=) c.1120A= (p.Met374=) c.1345A= (p.Met449=) c.1276A= (p.Met426=) | |
| 11 | g.66850300_66850316del | CA2573147599 | PC | c.2625_2641del (p.Phe876GlyfsTer?) n.290-248_290-232del c.*634_*650del (n.*634_*650del) c.*1101_*1117del (n.*1101_*1117del) c.-16_1del (n.-16_1del) c.1104_1120del (p.Phe369GlyfsTer?) c.1329_1345del (p.Phe444GlyfsTer?) c.1260_1276del (p.Phe421GlyfsTer?) | dbSNP |
| 11 | g.66850298G>A | CA6131024 | PC | c.2640C>T (p.Ser880=) n.290-233C>T c.*649C>T (n.*649C>T) c.*1116C>T (n.*1116C>T) c.-1C>T (n.-1C>T) c.1119C>T (p.Ser373=) c.1344C>T (p.Ser448=) c.1275C>T (p.Ser425=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850298G>C | CA381492502 | PC | c.2640C>G (p.Ser880Arg) n.290-233C>G c.*649C>G (n.*649C>G) c.*1116C>G (n.*1116C>G) c.-1C>G (n.-1C>G) c.1119C>G (p.Ser373Arg) c.1344C>G (p.Ser448Arg) c.1275C>G (p.Ser425Arg) | |
| 11 | g.66850298G= | CA1979879393 | PC | c.2640C= (p.Ser880=) n.290-233C= c.*649C= (n.*649C=) c.*1116C= (n.*1116C=) c.-1C= (n.-1C=) c.1119C= (p.Ser373=) c.1344C= (p.Ser448=) c.1275C= (p.Ser425=) | |
| 11 | g.66850298G>T | CA381492503 | PC | c.2640C>A (p.Ser880Arg) n.290-233C>A c.*649C>A (n.*649C>A) c.*1116C>A (n.*1116C>A) c.-1C>A (n.-1C>A) c.1119C>A (p.Ser373Arg) c.1344C>A (p.Ser448Arg) c.1275C>A (p.Ser425Arg) | |
| 11 | g.66850299C>A | CA381492504 | PC | c.2639G>T (p.Ser880Ile) n.290-234G>T c.*648G>T (n.*648G>T) c.*1115G>T (n.*1115G>T) c.-2G>T (n.-2G>T) c.1118G>T (p.Ser373Ile) c.1343G>T (p.Ser448Ile) c.1274G>T (p.Ser425Ile) | |
| 11 | g.66850299C>G | CA381492506 | PC | c.2639G>C (p.Ser880Thr) n.290-234G>C c.*648G>C (n.*648G>C) c.*1115G>C (n.*1115G>C) c.-2G>C (n.-2G>C) c.1118G>C (p.Ser373Thr) c.1343G>C (p.Ser448Thr) c.1274G>C (p.Ser425Thr) | gnomAD v4 |
| 11 | g.66850299C>T | CA381492505 | PC | c.2639G>A (p.Ser880Asn) n.290-234G>A c.*648G>A (n.*648G>A) c.*1115G>A (n.*1115G>A) c.-2G>A (n.-2G>A) c.1118G>A (p.Ser373Asn) c.1343G>A (p.Ser448Asn) c.1274G>A (p.Ser425Asn) | |
| 11 | g.66850300T>A | CA381492507 | PC | c.2638A>T (p.Ser880Cys) n.290-235A>T c.*647A>T (n.*647A>T) c.*1114A>T (n.*1114A>T) c.-3A>T (n.-3A>T) c.1117A>T (p.Ser373Cys) c.1342A>T (p.Ser448Cys) c.1273A>T (p.Ser425Cys) | |
| 11 | g.66850300T>C | CA381492508 | PC | c.2638A>G (p.Ser880Gly) n.290-235A>G c.*647A>G (n.*647A>G) c.*1114A>G (n.*1114A>G) c.-3A>G (n.-3A>G) c.1117A>G (p.Ser373Gly) c.1342A>G (p.Ser448Gly) c.1273A>G (p.Ser425Gly) | ClinVar gnomAD v4 |
| 11 | g.66850300T>G | CA381492509 | PC | c.2638A>C (p.Ser880Arg) n.290-235A>C c.*647A>C (n.*647A>C) c.*1114A>C (n.*1114A>C) c.-3A>C (n.-3A>C) c.1117A>C (p.Ser373Arg) c.1342A>C (p.Ser448Arg) c.1273A>C (p.Ser425Arg) | |
| 11 | g.66850302_66850303del | CA2792479711 | PC | c.2637_2638del (p.His879GlnfsTer?) n.290-236_290-235del c.*646_*647del (n.*646_*647del) c.*1113_*1114del (n.*1113_*1114del) c.-4_-3del (n.-4_-3del) c.1116_1117del (p.His372GlnfsTer?) c.1341_1342del (p.His447GlnfsTer?) c.1272_1273del (p.His424GlnfsTer?) | |
| 11 | g.66850301G>A | CA475500715 | PC | c.2637C>T (p.His879=) n.290-236C>T c.*646C>T (n.*646C>T) c.*1113C>T (n.*1113C>T) c.-4C>T (n.-4C>T) c.1116C>T (p.His372=) c.1341C>T (p.His447=) c.1272C>T (p.His424=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850301G>C | CA381492511 | PC | c.2637C>G (p.His879Gln) n.290-236C>G c.*646C>G (n.*646C>G) c.*1113C>G (n.*1113C>G) c.-4C>G (n.-4C>G) c.1116C>G (p.His372Gln) c.1341C>G (p.His447Gln) c.1272C>G (p.His424Gln) | |
| 11 | g.66850301G= | CA1979879395 | PC | c.2637C= (p.His879=) n.290-236C= c.*646C= (n.*646C=) c.*1113C= (n.*1113C=) c.-4C= (n.-4C=) c.1116C= (p.His372=) c.1341C= (p.His447=) c.1272C= (p.His424=) | |
| 11 | g.66850301G>T | CA381492513 | PC | c.2637C>A (p.His879Gln) n.290-236C>A c.*646C>A (n.*646C>A) c.*1113C>A (n.*1113C>A) c.-4C>A (n.-4C>A) c.1116C>A (p.His372Gln) c.1341C>A (p.His447Gln) c.1272C>A (p.His424Gln) | |
| 11 | g.66850302T>A | CA381492515 | PC | c.2636A>T (p.His879Leu) n.290-237A>T c.*645A>T (n.*645A>T) c.*1112A>T (n.*1112A>T) c.-5A>T (n.-5A>T) c.1115A>T (p.His372Leu) c.1340A>T (p.His447Leu) c.1271A>T (p.His424Leu) | |
| 11 | g.66850302T>C | CA6131025 | PC | c.2636A>G (p.His879Arg) n.290-237A>G c.*645A>G (n.*645A>G) c.*1112A>G (n.*1112A>G) c.-5A>G (n.-5A>G) c.1115A>G (p.His372Arg) c.1340A>G (p.His447Arg) c.1271A>G (p.His424Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850302T>G | CA381492518 | PC | c.2636A>C (p.His879Pro) n.290-237A>C c.*645A>C (n.*645A>C) c.*1112A>C (n.*1112A>C) c.-5A>C (n.-5A>C) c.1115A>C (p.His372Pro) c.1340A>C (p.His447Pro) c.1271A>C (p.His424Pro) | |
| 11 | g.66850302T= | CA1979879398 | PC | c.2636A= (p.His879=) n.290-237A= c.*645A= (n.*645A=) c.*1112A= (n.*1112A=) c.-5A= (n.-5A=) c.1115A= (p.His372=) c.1340A= (p.His447=) c.1271A= (p.His424=) | |
| 11 | g.66850303G>A | CA381492519 | PC | c.2635C>T (p.His879Tyr) n.290-238C>T c.*644C>T (n.*644C>T) c.*1111C>T (n.*1111C>T) c.-6C>T (n.-6C>T) c.1114C>T (p.His372Tyr) c.1339C>T (p.His447Tyr) c.1270C>T (p.His424Tyr) | gnomAD v4 |
| 11 | g.66850303G>C | CA381492520 | PC | c.2635C>G (p.His879Asp) n.290-238C>G c.*644C>G (n.*644C>G) c.*1111C>G (n.*1111C>G) c.-6C>G (n.-6C>G) c.1114C>G (p.His372Asp) c.1339C>G (p.His447Asp) c.1270C>G (p.His424Asp) | |
| 11 | g.66850303G>T | CA381492521 | PC | c.2635C>A (p.His879Asn) n.290-238C>A c.*644C>A (n.*644C>A) c.*1111C>A (n.*1111C>A) c.-6C>A (n.-6C>A) c.1114C>A (p.His372Asn) c.1339C>A (p.His447Asn) c.1270C>A (p.His424Asn) | |
| 11 | g.66850304G>A | CA475500719 | PC | c.2634C>T (p.Ala878=) n.290-239C>T c.*643C>T (n.*643C>T) c.*1110C>T (n.*1110C>T) c.-7C>T (n.-7C>T) c.1113C>T (p.Ala371=) c.1338C>T (p.Ala446=) c.1269C>T (p.Ala423=) | |
| 11 | g.66850304G>C | CA475500720 | PC | c.2634C>G (p.Ala878=) n.290-239C>G c.*643C>G (n.*643C>G) c.*1110C>G (n.*1110C>G) c.-7C>G (n.-7C>G) c.1113C>G (p.Ala371=) c.1338C>G (p.Ala446=) c.1269C>G (p.Ala423=) | |
| 11 | g.66850304G>T | CA475500721 | PC | c.2634C>A (p.Ala878=) n.290-239C>A c.*643C>A (n.*643C>A) c.*1110C>A (n.*1110C>A) c.-7C>A (n.-7C>A) c.1113C>A (p.Ala371=) c.1338C>A (p.Ala446=) c.1269C>A (p.Ala423=) | |
| 11 | g.66850305G>A | CA381492524 | PC | c.2633C>T (p.Ala878Val) n.290-240C>T c.*642C>T (n.*642C>T) c.*1109C>T (n.*1109C>T) c.-8C>T (n.-8C>T) c.1112C>T (p.Ala371Val) c.1337C>T (p.Ala446Val) c.1268C>T (p.Ala423Val) | |
| 11 | g.66850305G>C | CA381492527 | PC | c.2633C>G (p.Ala878Gly) n.290-240C>G c.*642C>G (n.*642C>G) c.*1109C>G (n.*1109C>G) c.-8C>G (n.-8C>G) c.1112C>G (p.Ala371Gly) c.1337C>G (p.Ala446Gly) c.1268C>G (p.Ala423Gly) | |
| 11 | g.66850305G>T | CA381492525 | PC | c.2633C>A (p.Ala878Asp) n.290-240C>A c.*642C>A (n.*642C>A) c.*1109C>A (n.*1109C>A) c.-8C>A (n.-8C>A) c.1112C>A (p.Ala371Asp) c.1337C>A (p.Ala446Asp) c.1268C>A (p.Ala423Asp) | |
| 11 | g.66850306C>A | CA381492528 | PC | c.2632G>T (p.Ala878Ser) n.290-241G>T c.*641G>T (n.*641G>T) c.*1108G>T (n.*1108G>T) c.-9G>T (n.-9G>T) c.1111G>T (p.Ala371Ser) c.1336G>T (p.Ala446Ser) c.1267G>T (p.Ala423Ser) | |
| 11 | g.66850306C>G | CA381492529 | PC | c.2632G>C (p.Ala878Pro) n.290-241G>C c.*641G>C (n.*641G>C) c.*1108G>C (n.*1108G>C) c.-9G>C (n.-9G>C) c.1111G>C (p.Ala371Pro) c.1336G>C (p.Ala446Pro) c.1267G>C (p.Ala423Pro) | |
| 11 | g.66850306C>T | CA381492531 | PC | c.2632G>A (p.Ala878Thr) n.290-241G>A c.*641G>A (n.*641G>A) c.*1108G>A (n.*1108G>A) c.-9G>A (n.-9G>A) c.1111G>A (p.Ala371Thr) c.1336G>A (p.Ala446Thr) c.1267G>A (p.Ala423Thr) | |
| 11 | g.66850307C>A | CA381492532 | PC | c.2631G>T (p.Gln877His) n.290-242G>T c.*640G>T (n.*640G>T) c.*1107G>T (n.*1107G>T) c.-10G>T (n.-10G>T) c.1110G>T (p.Gln370His) c.1335G>T (p.Gln445His) c.1266G>T (p.Gln422His) | |
| 11 | g.66850307C>G | CA381492534 | PC | c.2631G>C (p.Gln877His) n.290-242G>C c.*640G>C (n.*640G>C) c.*1107G>C (n.*1107G>C) c.-10G>C (n.-10G>C) c.1110G>C (p.Gln370His) c.1335G>C (p.Gln445His) c.1266G>C (p.Gln422His) | |
| 11 | g.66850307C>T | CA475500723 | PC | c.2631G>A (p.Gln877=) n.290-242G>A c.*640G>A (n.*640G>A) c.*1107G>A (n.*1107G>A) c.-10G>A (n.-10G>A) c.1110G>A (p.Gln370=) c.1335G>A (p.Gln445=) c.1266G>A (p.Gln422=) | |
| 11 | g.66850308T>A | CA381492535 | PC | c.2630A>T (p.Gln877Leu) n.290-243A>T c.*639A>T (n.*639A>T) c.*1106A>T (n.*1106A>T) c.-11A>T (n.-11A>T) c.1109A>T (p.Gln370Leu) c.1334A>T (p.Gln445Leu) c.1265A>T (p.Gln422Leu) | |
| 11 | g.66850308T>C | CA381492536 | PC | c.2630A>G (p.Gln877Arg) n.290-243A>G c.*639A>G (n.*639A>G) c.*1106A>G (n.*1106A>G) c.-11A>G (n.-11A>G) c.1109A>G (p.Gln370Arg) c.1334A>G (p.Gln445Arg) c.1265A>G (p.Gln422Arg) | |
| 11 | g.66850308T>G | CA381492538 | PC | c.2630A>C (p.Gln877Pro) n.290-243A>C c.*639A>C (n.*639A>C) c.*1106A>C (n.*1106A>C) c.-11A>C (n.-11A>C) c.1109A>C (p.Gln370Pro) c.1334A>C (p.Gln445Pro) c.1265A>C (p.Gln422Pro) | |
| 11 | g.66850309G>A | CA381492543 | PC | c.2629C>T (p.Gln877Ter) n.290-244C>T c.*638C>T (n.*638C>T) c.*1105C>T (n.*1105C>T) c.-12C>T (n.-12C>T) c.1108C>T (p.Gln370Ter) c.1333C>T (p.Gln445Ter) c.1264C>T (p.Gln422Ter) | gnomAD v4 |
| 11 | g.66850309G>C | CA381492544 | PC | c.2629C>G (p.Gln877Glu) n.290-244C>G c.*638C>G (n.*638C>G) c.*1105C>G (n.*1105C>G) c.-12C>G (n.-12C>G) c.1108C>G (p.Gln370Glu) c.1333C>G (p.Gln445Glu) c.1264C>G (p.Gln422Glu) | |
| 11 | g.66850309G>T | CA381492545 | PC | c.2629C>A (p.Gln877Lys) n.290-244C>A c.*638C>A (n.*638C>A) c.*1105C>A (n.*1105C>A) c.-12C>A (n.-12C>A) c.1108C>A (p.Gln370Lys) c.1333C>A (p.Gln445Lys) c.1264C>A (p.Gln422Lys) | |
| 11 | g.66850310G>A | CA475500725 | PC | c.2628C>T (p.Phe876=) n.290-245C>T c.*637C>T (n.*637C>T) c.*1104C>T (n.*1104C>T) c.-13C>T (n.-13C>T) c.1107C>T (p.Phe369=) c.1332C>T (p.Phe444=) c.1263C>T (p.Phe421=) | |
| 11 | g.66850310G>C | CA381492546 | PC | c.2628C>G (p.Phe876Leu) n.290-245C>G c.*637C>G (n.*637C>G) c.*1104C>G (n.*1104C>G) c.-13C>G (n.-13C>G) c.1107C>G (p.Phe369Leu) c.1332C>G (p.Phe444Leu) c.1263C>G (p.Phe421Leu) | |
| 11 | g.66850310G>T | CA381492547 | PC | c.2628C>A (p.Phe876Leu) n.290-245C>A c.*637C>A (n.*637C>A) c.*1104C>A (n.*1104C>A) c.-13C>A (n.-13C>A) c.1107C>A (p.Phe369Leu) c.1332C>A (p.Phe444Leu) c.1263C>A (p.Phe421Leu) | |
| 11 | g.66850311A>C | CA381492548 | PC | c.2627T>G (p.Phe876Cys) n.290-246T>G c.*636T>G (n.*636T>G) c.*1103T>G (n.*1103T>G) c.-14T>G (n.-14T>G) c.1106T>G (p.Phe369Cys) c.1331T>G (p.Phe444Cys) c.1262T>G (p.Phe421Cys) | |
| 11 | g.66850311A>G | CA381492550 | PC | c.2627T>C (p.Phe876Ser) n.290-246T>C c.*636T>C (n.*636T>C) c.*1103T>C (n.*1103T>C) c.-14T>C (n.-14T>C) c.1106T>C (p.Phe369Ser) c.1331T>C (p.Phe444Ser) c.1262T>C (p.Phe421Ser) | |
| 11 | g.66850311A>T | CA381492549 | PC | c.2627T>A (p.Phe876Tyr) n.290-246T>A c.*636T>A (n.*636T>A) c.*1103T>A (n.*1103T>A) c.-14T>A (n.-14T>A) c.1106T>A (p.Phe369Tyr) c.1331T>A (p.Phe444Tyr) c.1262T>A (p.Phe421Tyr) | |
| 11 | g.66850312dup | CA2614541606 | PC | c.2627dup (p.Gln877ProfsTer?) n.290-246dup c.*636dup (n.*636dup) c.*1103dup (n.*1103dup) c.-14dup (n.-14dup) c.1106dup (p.Gln370ProfsTer?) c.1331dup (p.Gln445ProfsTer?) c.1262dup (p.Gln422ProfsTer?) | gnomAD v4 |
| 11 | g.66850312A>C | CA381492551 | PC | c.2626T>G (p.Phe876Val) n.290-247T>G c.*635T>G (n.*635T>G) c.*1102T>G (n.*1102T>G) c.-15T>G (n.-15T>G) c.1105T>G (p.Phe369Val) c.1330T>G (p.Phe444Val) c.1261T>G (p.Phe421Val) | |
| 11 | g.66850312A>G | CA381492552 | PC | c.2626T>C (p.Phe876Leu) n.290-247T>C c.*635T>C (n.*635T>C) c.*1102T>C (n.*1102T>C) c.-15T>C (n.-15T>C) c.1105T>C (p.Phe369Leu) c.1330T>C (p.Phe444Leu) c.1261T>C (p.Phe421Leu) | |
| 11 | g.66850312A>T | CA381492553 | PC | c.2626T>A (p.Phe876Ile) n.290-247T>A c.*635T>A (n.*635T>A) c.*1102T>A (n.*1102T>A) c.-15T>A (n.-15T>A) c.1105T>A (p.Phe369Ile) c.1330T>A (p.Phe444Ile) c.1261T>A (p.Phe421Ile) | |
| 11 | g.66850313G>A | CA475500729 | PC | c.2625C>T (p.His875=) n.290-248C>T c.*634C>T (n.*634C>T) c.*1101C>T (n.*1101C>T) c.-16C>T (n.-16C>T) c.1104C>T (p.His368=) c.1329C>T (p.His443=) c.1260C>T (p.His420=) | gnomAD v4 |
| 11 | g.66850313G>C | CA381492554 | PC | c.2625C>G (p.His875Gln) n.290-248C>G c.*634C>G (n.*634C>G) c.*1101C>G (n.*1101C>G) c.-16C>G (n.-16C>G) c.1104C>G (p.His368Gln) c.1329C>G (p.His443Gln) c.1260C>G (p.His420Gln) | |
| 11 | g.66850313G>T | CA381492555 | PC | c.2625C>A (p.His875Gln) n.290-248C>A c.*634C>A (n.*634C>A) c.*1101C>A (n.*1101C>A) c.-16C>A (n.-16C>A) c.1104C>A (p.His368Gln) c.1329C>A (p.His443Gln) c.1260C>A (p.His420Gln) | |
| 11 | g.66850314T>A | CA381492556 | PC | c.2624A>T (p.His875Leu) n.290-249A>T c.*633A>T (n.*633A>T) c.*1100A>T (n.*1100A>T) c.-17A>T (n.-17A>T) c.1103A>T (p.His368Leu) c.1328A>T (p.His443Leu) c.1259A>T (p.His420Leu) | |
| 11 | g.66850314T>C | CA6131026 | PC | c.2624A>G (p.His875Arg) n.290-249A>G c.*633A>G (n.*633A>G) c.*1100A>G (n.*1100A>G) c.-17A>G (n.-17A>G) c.1103A>G (p.His368Arg) c.1328A>G (p.His443Arg) c.1259A>G (p.His420Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850314T>G | CA381492557 | PC | c.2624A>C (p.His875Pro) n.290-249A>C c.*633A>C (n.*633A>C) c.*1100A>C (n.*1100A>C) c.-17A>C (n.-17A>C) c.1103A>C (p.His368Pro) c.1328A>C (p.His443Pro) c.1259A>C (p.His420Pro) | |
| 11 | g.66850314T= | CA1979879401 | PC | c.2624A= (p.His875=) n.290-249A= c.*633A= (n.*633A=) c.*1100A= (n.*1100A=) c.-17A= (n.-17A=) c.1103A= (p.His368=) c.1328A= (p.His443=) c.1259A= (p.His420=) | |
| 11 | g.66850315G>A | CA381492558 | PC | c.2623C>T (p.His875Tyr) n.290-250C>T c.*632C>T (n.*632C>T) c.*1099C>T (n.*1099C>T) c.-18C>T (n.-18C>T) c.1102C>T (p.His368Tyr) c.1327C>T (p.His443Tyr) c.1258C>T (p.His420Tyr) | ClinVar |
| 11 | g.66850315G>C | CA381492559 | PC | c.2623C>G (p.His875Asp) n.290-250C>G c.*632C>G (n.*632C>G) c.*1099C>G (n.*1099C>G) c.-18C>G (n.-18C>G) c.1102C>G (p.His368Asp) c.1327C>G (p.His443Asp) c.1258C>G (p.His420Asp) | |
| 11 | g.66850315G>T | CA381492560 | PC | c.2623C>A (p.His875Asn) n.290-250C>A c.*632C>A (n.*632C>A) c.*1099C>A (n.*1099C>A) c.-18C>A (n.-18C>A) c.1102C>A (p.His368Asn) c.1327C>A (p.His443Asn) c.1258C>A (p.His420Asn) | |
| 11 | g.66850316C>A | CA475500733 | PC | c.2622G>T (p.Leu874=) n.290-251G>T c.*631G>T (n.*631G>T) c.*1098G>T (n.*1098G>T) c.-19G>T (n.-19G>T) c.1101G>T (p.Leu367=) c.1326G>T (p.Leu442=) c.1257G>T (p.Leu419=) | |
| 11 | g.66850316C>G | CA475500734 | PC | c.2622G>C (p.Leu874=) n.290-251G>C c.*631G>C (n.*631G>C) c.*1098G>C (n.*1098G>C) c.-19G>C (n.-19G>C) c.1101G>C (p.Leu367=) c.1326G>C (p.Leu442=) c.1257G>C (p.Leu419=) | |
| 11 | g.66850316C>T | CA475500732 | PC | c.2622G>A (p.Leu874=) n.290-251G>A c.*631G>A (n.*631G>A) c.*1098G>A (n.*1098G>A) c.-19G>A (n.-19G>A) c.1101G>A (p.Leu367=) c.1326G>A (p.Leu442=) c.1257G>A (p.Leu419=) | |
| 11 | g.66850317A= | CA1979879406 | PC | c.2621T= (p.Leu874=) n.290-252T= c.*630T= (n.*630T=) c.*1097T= (n.*1097T=) c.-20T= (n.-20T=) c.1100T= (p.Leu367=) c.1325T= (p.Leu442=) c.1256T= (p.Leu419=) | |
| 11 | g.66850317A>C | CA381492562 | PC | c.2621T>G (p.Leu874Arg) n.290-252T>G c.*630T>G (n.*630T>G) c.*1097T>G (n.*1097T>G) c.-20T>G (n.-20T>G) c.1100T>G (p.Leu367Arg) c.1325T>G (p.Leu442Arg) c.1256T>G (p.Leu419Arg) | |
| 11 | g.66850317A>G | CA381492563 | PC | c.2621T>C (p.Leu874Pro) n.290-252T>C c.*630T>C (n.*630T>C) c.*1097T>C (n.*1097T>C) c.-20T>C (n.-20T>C) c.1100T>C (p.Leu367Pro) c.1325T>C (p.Leu442Pro) c.1256T>C (p.Leu419Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850317A>T | CA381492561 | PC | c.2621T>A (p.Leu874Gln) n.290-252T>A c.*630T>A (n.*630T>A) c.*1097T>A (n.*1097T>A) c.-20T>A (n.-20T>A) c.1100T>A (p.Leu367Gln) c.1325T>A (p.Leu442Gln) c.1256T>A (p.Leu419Gln) | |
| 11 | g.66850318G>A | CA475500735 | PC | c.2620C>T (p.Leu874=) n.290-253C>T c.*629C>T (n.*629C>T) c.*1096C>T (n.*1096C>T) c.-21C>T (n.-21C>T) c.1099C>T (p.Leu367=) c.1324C>T (p.Leu442=) c.1255C>T (p.Leu419=) | ClinVar gnomAD v4 |
| 11 | g.66850318G>C | CA381492565 | PC | c.2620C>G (p.Leu874Val) n.290-253C>G c.*629C>G (n.*629C>G) c.*1096C>G (n.*1096C>G) c.-21C>G (n.-21C>G) c.1099C>G (p.Leu367Val) c.1324C>G (p.Leu442Val) c.1255C>G (p.Leu419Val) | dbSNP |
| 11 | g.66850318G= | CA1979879410 | PC | c.2620C= (p.Leu874=) n.290-253C= c.*629C= (n.*629C=) c.*1096C= (n.*1096C=) c.-21C= (n.-21C=) c.1099C= (p.Leu367=) c.1324C= (p.Leu442=) c.1255C= (p.Leu419=) | |
| 11 | g.66850318G>T | CA381492564 | PC | c.2620C>A (p.Leu874Met) n.290-253C>A c.*629C>A (n.*629C>A) c.*1096C>A (n.*1096C>A) c.-21C>A (n.-21C>A) c.1099C>A (p.Leu367Met) c.1324C>A (p.Leu442Met) c.1255C>A (p.Leu419Met) | |
| 11 | g.66850319G>A | CA341768 | PC | c.2619C>T (p.Asn873=) n.290-254C>T c.*628C>T (n.*628C>T) c.*1095C>T (n.*1095C>T) c.-22C>T (n.-22C>T) c.1098C>T (p.Asn366=) c.1323C>T (p.Asn441=) c.1254C>T (p.Asn418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850319G>C | CA381492566 | PC | c.2619C>G (p.Asn873Lys) n.290-254C>G c.*628C>G (n.*628C>G) c.*1095C>G (n.*1095C>G) c.-22C>G (n.-22C>G) c.1098C>G (p.Asn366Lys) c.1323C>G (p.Asn441Lys) c.1254C>G (p.Asn418Lys) | |
| 11 | g.66850319G= | CA1979879415 | PC | c.2619C= (p.Asn873=) n.290-254C= c.*628C= (n.*628C=) c.*1095C= (n.*1095C=) c.-22C= (n.-22C=) c.1098C= (p.Asn366=) c.1323C= (p.Asn441=) c.1254C= (p.Asn418=) | |
| 11 | g.66850319G>T | CA381492567 | PC | c.2619C>A (p.Asn873Lys) n.290-254C>A c.*628C>A (n.*628C>A) c.*1095C>A (n.*1095C>A) c.-22C>A (n.-22C>A) c.1098C>A (p.Asn366Lys) c.1323C>A (p.Asn441Lys) c.1254C>A (p.Asn418Lys) | |
| 11 | g.66850320T>A | CA381492568 | PC | c.2618A>T (p.Asn873Ile) n.290-255A>T c.*627A>T (n.*627A>T) c.*1094A>T (n.*1094A>T) c.-23A>T (n.-23A>T) c.1097A>T (p.Asn366Ile) c.1322A>T (p.Asn441Ile) c.1253A>T (p.Asn418Ile) | |
| 11 | g.66850320T>C | CA381492569 | PC | c.2618A>G (p.Asn873Ser) n.290-255A>G c.*627A>G (n.*627A>G) c.*1094A>G (n.*1094A>G) c.-23A>G (n.-23A>G) c.1097A>G (p.Asn366Ser) c.1322A>G (p.Asn441Ser) c.1253A>G (p.Asn418Ser) | dbSNP |
| 11 | g.66850320T>G | CA381492570 | PC | c.2618A>C (p.Asn873Thr) n.290-255A>C c.*627A>C (n.*627A>C) c.*1094A>C (n.*1094A>C) c.-23A>C (n.-23A>C) c.1097A>C (p.Asn366Thr) c.1322A>C (p.Asn441Thr) c.1253A>C (p.Asn418Thr) | |
| 11 | g.66850320T= | CA1979879421 | PC | c.2618A= (p.Asn873=) n.290-255A= c.*627A= (n.*627A=) c.*1094A= (n.*1094A=) c.-23A= (n.-23A=) c.1097A= (p.Asn366=) c.1322A= (p.Asn441=) c.1253A= (p.Asn418=) | |
| 11 | g.66850321T>A | CA381492571 | PC | c.2617A>T (p.Asn873Tyr) n.290-256A>T c.*626A>T (n.*626A>T) c.*1093A>T (n.*1093A>T) c.-24A>T (n.-24A>T) c.1096A>T (p.Asn366Tyr) c.1321A>T (p.Asn441Tyr) c.1252A>T (p.Asn418Tyr) | |
| 11 | g.66850321T>C | CA381492572 | PC | c.2617A>G (p.Asn873Asp) n.290-256A>G c.*626A>G (n.*626A>G) c.*1093A>G (n.*1093A>G) c.-24A>G (n.-24A>G) c.1096A>G (p.Asn366Asp) c.1321A>G (p.Asn441Asp) c.1252A>G (p.Asn418Asp) | |
| 11 | g.66850321T>G | CA381492573 | PC | c.2617A>C (p.Asn873His) n.290-256A>C c.*626A>C (n.*626A>C) c.*1093A>C (n.*1093A>C) c.-24A>C (n.-24A>C) c.1096A>C (p.Asn366His) c.1321A>C (p.Asn441His) c.1252A>C (p.Asn418His) | |
| 11 | g.66850322G>A | CA475500740 | PC | c.2616C>T (p.Thr872=) n.290-257C>T c.*625C>T (n.*625C>T) c.*1092C>T (n.*1092C>T) c.-25C>T (n.-25C>T) c.1095C>T (p.Thr365=) c.1320C>T (p.Thr440=) c.1251C>T (p.Thr417=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850322G>C | CA475500741 | PC | c.2616C>G (p.Thr872=) n.290-257C>G c.*625C>G (n.*625C>G) c.*1092C>G (n.*1092C>G) c.-25C>G (n.-25C>G) c.1095C>G (p.Thr365=) c.1320C>G (p.Thr440=) c.1251C>G (p.Thr417=) | |
| 11 | g.66850322G= | CA1979879423 | PC | c.2616C= (p.Thr872=) n.290-257C= c.*625C= (n.*625C=) c.*1092C= (n.*1092C=) c.-25C= (n.-25C=) c.1095C= (p.Thr365=) c.1320C= (p.Thr440=) c.1251C= (p.Thr417=) | |
| 11 | g.66850322G>T | CA475500742 | PC | c.2616C>A (p.Thr872=) n.290-257C>A c.*625C>A (n.*625C>A) c.*1092C>A (n.*1092C>A) c.-25C>A (n.-25C>A) c.1095C>A (p.Thr365=) c.1320C>A (p.Thr440=) c.1251C>A (p.Thr417=) | |
| 11 | g.66850323G>A | CA381492574 | PC | c.2615C>T (p.Thr872Ile) n.290-258C>T c.*624C>T (n.*624C>T) c.*1091C>T (n.*1091C>T) c.-26C>T (n.-26C>T) c.1094C>T (p.Thr365Ile) c.1319C>T (p.Thr440Ile) c.1250C>T (p.Thr417Ile) | gnomAD v4 |
| 11 | g.66850323G>C | CA381492575 | PC | c.2615C>G (p.Thr872Ser) n.290-258C>G c.*624C>G (n.*624C>G) c.*1091C>G (n.*1091C>G) c.-26C>G (n.-26C>G) c.1094C>G (p.Thr365Ser) c.1319C>G (p.Thr440Ser) c.1250C>G (p.Thr417Ser) | gnomAD v4 |
| 11 | g.66850323G>T | CA381492576 | PC | c.2615C>A (p.Thr872Asn) n.290-258C>A c.*624C>A (n.*624C>A) c.*1091C>A (n.*1091C>A) c.-26C>A (n.-26C>A) c.1094C>A (p.Thr365Asn) c.1319C>A (p.Thr440Asn) c.1250C>A (p.Thr417Asn) | |
| 11 | g.66850324T>A | CA381492577 | PC | c.2614A>T (p.Thr872Ser) n.290-259A>T c.*623A>T (n.*623A>T) c.*1090A>T (n.*1090A>T) c.-27A>T (n.-27A>T) c.1093A>T (p.Thr365Ser) c.1318A>T (p.Thr440Ser) c.1249A>T (p.Thr417Ser) | |
| 11 | g.66850324T>C | CA381492578 | PC | c.2614A>G (p.Thr872Ala) n.290-259A>G c.*623A>G (n.*623A>G) c.*1090A>G (n.*1090A>G) c.-27A>G (n.-27A>G) c.1093A>G (p.Thr365Ala) c.1318A>G (p.Thr440Ala) c.1249A>G (p.Thr417Ala) | |
| 11 | g.66850324T>G | CA381492579 | PC | c.2614A>C (p.Thr872Pro) n.290-259A>C c.*623A>C (n.*623A>C) c.*1090A>C (n.*1090A>C) c.-27A>C (n.-27A>C) c.1093A>C (p.Thr365Pro) c.1318A>C (p.Thr440Pro) c.1249A>C (p.Thr417Pro) | |
| 11 | g.66850325G>A | CA475500743 | PC | c.2613C>T (p.Tyr871=) n.290-260C>T c.*622C>T (n.*622C>T) c.*1089C>T (n.*1089C>T) c.-28C>T (n.-28C>T) c.1092C>T (p.Tyr364=) c.1317C>T (p.Tyr439=) c.1248C>T (p.Tyr416=) | ClinVar dbSNP |
| 11 | g.66850325G>C | CA381492580 | PC | c.2613C>G (p.Tyr871Ter) n.290-260C>G c.*622C>G (n.*622C>G) c.*1089C>G (n.*1089C>G) c.-28C>G (n.-28C>G) c.1092C>G (p.Tyr364Ter) c.1317C>G (p.Tyr439Ter) c.1248C>G (p.Tyr416Ter) | |
| 11 | g.66850325G= | CA1979879426 | PC | c.2613C= (p.Tyr871=) n.290-260C= c.*622C= (n.*622C=) c.*1089C= (n.*1089C=) c.-28C= (n.-28C=) c.1092C= (p.Tyr364=) c.1317C= (p.Tyr439=) c.1248C= (p.Tyr416=) | |
| 11 | g.66850325G>T | CA6131027 | PC | c.2613C>A (p.Tyr871Ter) n.290-260C>A c.*622C>A (n.*622C>A) c.*1089C>A (n.*1089C>A) c.-28C>A (n.-28C>A) c.1092C>A (p.Tyr364Ter) c.1317C>A (p.Tyr439Ter) c.1248C>A (p.Tyr416Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.66850326T>A | CA381492581 | PC | c.2612A>T (p.Tyr871Phe) n.290-261A>T c.*621A>T (n.*621A>T) c.*1088A>T (n.*1088A>T) c.-29A>T (n.-29A>T) c.1091A>T (p.Tyr364Phe) c.1316A>T (p.Tyr439Phe) c.1247A>T (p.Tyr416Phe) | |
| 11 | g.66850326T>C | CA381492582 | PC | c.2612A>G (p.Tyr871Cys) n.290-261A>G c.*621A>G (n.*621A>G) c.*1088A>G (n.*1088A>G) c.-29A>G (n.-29A>G) c.1091A>G (p.Tyr364Cys) c.1316A>G (p.Tyr439Cys) c.1247A>G (p.Tyr416Cys) | |
| 11 | g.66850326T>G | CA381492583 | PC | c.2612A>C (p.Tyr871Ser) n.290-261A>C c.*621A>C (n.*621A>C) c.*1088A>C (n.*1088A>C) c.-29A>C (n.-29A>C) c.1091A>C (p.Tyr364Ser) c.1316A>C (p.Tyr439Ser) c.1247A>C (p.Tyr416Ser) | |
| 11 | g.66850327A= | CA1979879430 | PC | c.2611T= (p.Tyr871=) n.290-262T= c.*620T= (n.*620T=) c.*1087T= (n.*1087T=) c.-30T= (n.-30T=) c.1090T= (p.Tyr364=) c.1315T= (p.Tyr439=) c.1246T= (p.Tyr416=) | |
| 11 | g.66850327A>C | CA381492584 | PC | c.2611T>G (p.Tyr871Asp) n.290-262T>G c.*620T>G (n.*620T>G) c.*1087T>G (n.*1087T>G) c.-30T>G (n.-30T>G) c.1090T>G (p.Tyr364Asp) c.1315T>G (p.Tyr439Asp) c.1246T>G (p.Tyr416Asp) | |
| 11 | g.66850327A>G | CA6131028 | PC | c.2611T>C (p.Tyr871His) n.290-262T>C c.*620T>C (n.*620T>C) c.*1087T>C (n.*1087T>C) c.-30T>C (n.-30T>C) c.1090T>C (p.Tyr364His) c.1315T>C (p.Tyr439His) c.1246T>C (p.Tyr416His) | dbSNP ExAC gnomAD v2 |
| 11 | g.66850327A>T | CA381492585 | PC | c.2611T>A (p.Tyr871Asn) n.290-262T>A c.*620T>A (n.*620T>A) c.*1087T>A (n.*1087T>A) c.-30T>A (n.-30T>A) c.1090T>A (p.Tyr364Asn) c.1315T>A (p.Tyr439Asn) c.1246T>A (p.Tyr416Asn) | |
| 11 | g.66850327dup | CA912972935 | PC | c.2611dup (p.Tyr871LeufsTer?) n.290-262dup c.*620dup (n.*620dup) c.*1087dup (n.*1087dup) c.-30dup (n.-30dup) c.1090dup (p.Tyr364LeufsTer?) c.1315dup (p.Tyr439LeufsTer?) c.1246dup (p.Tyr416LeufsTer?) | |
| 11 | g.66850328C>A | CA381492586 | PC | c.2610G>T (p.Gln870His) n.290-263G>T c.*619G>T (n.*619G>T) c.*1086G>T (n.*1086G>T) c.-31G>T (n.-31G>T) c.1089G>T (p.Gln363His) c.1314G>T (p.Gln438His) c.1245G>T (p.Gln415His) | |
| 11 | g.66850328C>G | CA381492587 | PC | c.2610G>C (p.Gln870His) n.290-263G>C c.*619G>C (n.*619G>C) c.*1086G>C (n.*1086G>C) c.-31G>C (n.-31G>C) c.1089G>C (p.Gln363His) c.1314G>C (p.Gln438His) c.1245G>C (p.Gln415His) | |
| 11 | g.66850328C>T | CA475500750 | PC | c.2610G>A (p.Gln870=) n.290-263G>A c.*619G>A (n.*619G>A) c.*1086G>A (n.*1086G>A) c.-31G>A (n.-31G>A) c.1089G>A (p.Gln363=) c.1314G>A (p.Gln438=) c.1245G>A (p.Gln415=) | |
| 11 | g.66850329_66850334dup | CA658821722 | PC | c.2605_2610dup (p.Gln870_Tyr871insGlyGln) n.290-268_290-263dup c.*614_*619dup (n.*614_*619dup) c.*1081_*1086dup (n.*1081_*1086dup) c.-36_-31dup (n.-36_-31dup) c.1084_1089dup (p.Gln363_Tyr364insGlyGln) c.1309_1314dup (p.Gln438_Tyr439insGlyGln) c.1240_1245dup (p.Gln415_Tyr416insGlyGln) | ClinVar dbSNP |
| 11 | g.66850329T>A | CA381492588 | PC | c.2609A>T (p.Gln870Leu) n.290-264A>T c.*618A>T (n.*618A>T) c.*1085A>T (n.*1085A>T) c.-32A>T (n.-32A>T) c.1088A>T (p.Gln363Leu) c.1313A>T (p.Gln438Leu) c.1244A>T (p.Gln415Leu) | |
| 11 | g.66850329T>C | CA381492589 | PC | c.2609A>G (p.Gln870Arg) n.290-264A>G c.*618A>G (n.*618A>G) c.*1085A>G (n.*1085A>G) c.-32A>G (n.-32A>G) c.1088A>G (p.Gln363Arg) c.1313A>G (p.Gln438Arg) c.1244A>G (p.Gln415Arg) | |
| 11 | g.66850329T>G | CA381492590 | PC | c.2609A>C (p.Gln870Pro) n.290-264A>C c.*618A>C (n.*618A>C) c.*1085A>C (n.*1085A>C) c.-32A>C (n.-32A>C) c.1088A>C (p.Gln363Pro) c.1313A>C (p.Gln438Pro) c.1244A>C (p.Gln415Pro) | |
| 11 | g.66850330G>A | CA381492591 | PC | c.2608C>T (p.Gln870Ter) n.290-265C>T c.*617C>T (n.*617C>T) c.*1084C>T (n.*1084C>T) c.-33C>T (n.-33C>T) c.1087C>T (p.Gln363Ter) c.1312C>T (p.Gln438Ter) c.1243C>T (p.Gln415Ter) | |
| 11 | g.66850330G>C | CA381492592 | PC | c.2608C>G (p.Gln870Glu) n.290-265C>G c.*617C>G (n.*617C>G) c.*1084C>G (n.*1084C>G) c.-33C>G (n.-33C>G) c.1087C>G (p.Gln363Glu) c.1312C>G (p.Gln438Glu) c.1243C>G (p.Gln415Glu) | |
| 11 | g.66850330G>T | CA381492593 | PC | c.2608C>A (p.Gln870Lys) n.290-265C>A c.*617C>A (n.*617C>A) c.*1084C>A (n.*1084C>A) c.-33C>A (n.-33C>A) c.1087C>A (p.Gln363Lys) c.1312C>A (p.Gln438Lys) c.1243C>A (p.Gln415Lys) | |
| 11 | g.66850331G>A | CA6131029 | PC | c.2607C>T (p.Gly869=) n.290-266C>T c.*616C>T (n.*616C>T) c.*1083C>T (n.*1083C>T) c.-34C>T (n.-34C>T) c.1086C>T (p.Gly362=) c.1311C>T (p.Gly437=) c.1242C>T (p.Gly414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850331G>C | CA475500751 | PC | c.2607C>G (p.Gly869=) n.290-266C>G c.*616C>G (n.*616C>G) c.*1083C>G (n.*1083C>G) c.-34C>G (n.-34C>G) c.1086C>G (p.Gly362=) c.1311C>G (p.Gly437=) c.1242C>G (p.Gly414=) | dbSNP |
| 11 | g.66850331G= | CA1979879440 | PC | c.2607C= (p.Gly869=) n.290-266C= c.*616C= (n.*616C=) c.*1083C= (n.*1083C=) c.-34C= (n.-34C=) c.1086C= (p.Gly362=) c.1311C= (p.Gly437=) c.1242C= (p.Gly414=) | |
| 11 | g.66850331G>T | CA475500752 | PC | c.2607C>A (p.Gly869=) n.290-266C>A c.*616C>A (n.*616C>A) c.*1083C>A (n.*1083C>A) c.-34C>A (n.-34C>A) c.1086C>A (p.Gly362=) c.1311C>A (p.Gly437=) c.1242C>A (p.Gly414=) | |
| 11 | g.66850332C>A | CA381492595 | PC | c.2606G>T (p.Gly869Val) n.290-267G>T c.*615G>T (n.*615G>T) c.*1082G>T (n.*1082G>T) c.-35G>T (n.-35G>T) c.1085G>T (p.Gly362Val) c.1310G>T (p.Gly437Val) c.1241G>T (p.Gly414Val) | |
| 11 | g.66850332C= | CA1979879447 | PC | c.2606G= (p.Gly869=) n.290-267G= c.*615G= (n.*615G=) c.*1082G= (n.*1082G=) c.-35G= (n.-35G=) c.1085G= (p.Gly362=) c.1310G= (p.Gly437=) c.1241G= (p.Gly414=) | |
| 11 | g.66850332C>G | CA381492594 | PC | c.2606G>C (p.Gly869Ala) n.290-267G>C c.*615G>C (n.*615G>C) c.*1082G>C (n.*1082G>C) c.-35G>C (n.-35G>C) c.1085G>C (p.Gly362Ala) c.1310G>C (p.Gly437Ala) c.1241G>C (p.Gly414Ala) | ClinVar dbSNP |
| 11 | g.66850332C>T | CA381492596 | PC | c.2606G>A (p.Gly869Asp) n.290-267G>A c.*615G>A (n.*615G>A) c.*1082G>A (n.*1082G>A) c.-35G>A (n.-35G>A) c.1085G>A (p.Gly362Asp) c.1310G>A (p.Gly437Asp) c.1241G>A (p.Gly414Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850336del | CA475500754 | PC | c.2606del (p.Gly869AlafsTer?) n.290-267del c.*615del (n.*615del) c.*1082del (n.*1082del) c.-35del (n.-35del) c.1085del (p.Gly362AlafsTer?) c.1310del (p.Gly437AlafsTer?) c.1241del (p.Gly414AlafsTer?) | COSMIC |
| 11 | g.66850333C>A | CA381492597 | PC | c.2605G>T (p.Gly869Cys) n.290-268G>T c.*614G>T (n.*614G>T) c.*1081G>T (n.*1081G>T) c.-36G>T (n.-36G>T) c.1084G>T (p.Gly362Cys) c.1309G>T (p.Gly437Cys) c.1240G>T (p.Gly414Cys) | |
| 11 | g.66850333C= | CA1979879451 | PC | c.2605G= (p.Gly869=) n.290-268G= c.*614G= (n.*614G=) c.*1081G= (n.*1081G=) c.-36G= (n.-36G=) c.1084G= (p.Gly362=) c.1309G= (p.Gly437=) c.1240G= (p.Gly414=) | |
| 11 | g.66850333C>G | CA381492598 | PC | c.2605G>C (p.Gly869Arg) n.290-268G>C c.*614G>C (n.*614G>C) c.*1081G>C (n.*1081G>C) c.-36G>C (n.-36G>C) c.1084G>C (p.Gly362Arg) c.1309G>C (p.Gly437Arg) c.1240G>C (p.Gly414Arg) | |
| 11 | g.66850333C>T | CA6131030 | PC | c.2605G>A (p.Gly869Ser) n.290-268G>A c.*614G>A (n.*614G>A) c.*1081G>A (n.*1081G>A) c.-36G>A (n.-36G>A) c.1084G>A (p.Gly362Ser) c.1309G>A (p.Gly437Ser) c.1240G>A (p.Gly414Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850334C>A | CA475500758 | PC | c.2604G>T (p.Gly868=) n.290-269G>T c.*613G>T (n.*613G>T) c.*1080G>T (n.*1080G>T) c.-37G>T (n.-37G>T) c.1083G>T (p.Gly361=) c.1308G>T (p.Gly436=) c.1239G>T (p.Gly413=) | |
| 11 | g.66850334C>G | CA475500759 | PC | c.2604G>C (p.Gly868=) n.290-269G>C c.*613G>C (n.*613G>C) c.*1080G>C (n.*1080G>C) c.-37G>C (n.-37G>C) c.1083G>C (p.Gly361=) c.1308G>C (p.Gly436=) c.1239G>C (p.Gly413=) | |
| 11 | g.66850334C>T | CA475500760 | PC | c.2604G>A (p.Gly868=) n.290-269G>A c.*613G>A (n.*613G>A) c.*1080G>A (n.*1080G>A) c.-37G>A (n.-37G>A) c.1083G>A (p.Gly361=) c.1308G>A (p.Gly436=) c.1239G>A (p.Gly413=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850335C>A | CA381492599 | PC | c.2603G>T (p.Gly868Val) n.290-270G>T c.*612G>T (n.*612G>T) c.*1079G>T (n.*1079G>T) c.-38G>T (n.-38G>T) c.1082G>T (p.Gly361Val) c.1307G>T (p.Gly436Val) c.1238G>T (p.Gly413Val) | |
| 11 | g.66850335C>G | CA381492600 | PC | c.2603G>C (p.Gly868Ala) n.290-270G>C c.*612G>C (n.*612G>C) c.*1079G>C (n.*1079G>C) c.-38G>C (n.-38G>C) c.1082G>C (p.Gly361Ala) c.1307G>C (p.Gly436Ala) c.1238G>C (p.Gly413Ala) | |
| 11 | g.66850335C>T | CA381492601 | PC | c.2603G>A (p.Gly868Glu) n.290-270G>A c.*612G>A (n.*612G>A) c.*1079G>A (n.*1079G>A) c.-38G>A (n.-38G>A) c.1082G>A (p.Gly361Glu) c.1307G>A (p.Gly436Glu) c.1238G>A (p.Gly413Glu) | |
| 11 | g.66850336C>A | CA381492602 | PC | c.2602G>T (p.Gly868Trp) n.290-271G>T c.*611G>T (n.*611G>T) c.*1078G>T (n.*1078G>T) c.-39G>T (n.-39G>T) c.1081G>T (p.Gly361Trp) c.1306G>T (p.Gly436Trp) c.1237G>T (p.Gly413Trp) | |
| 11 | g.66850336C>G | CA381492603 | PC | c.2602G>C (p.Gly868Arg) n.290-271G>C c.*611G>C (n.*611G>C) c.*1078G>C (n.*1078G>C) c.-39G>C (n.-39G>C) c.1081G>C (p.Gly361Arg) c.1306G>C (p.Gly436Arg) c.1237G>C (p.Gly413Arg) | |
| 11 | g.66850336C>T | CA381492604 | PC | c.2602G>A (p.Gly868Arg) n.290-271G>A c.*611G>A (n.*611G>A) c.*1078G>A (n.*1078G>A) c.-39G>A (n.-39G>A) c.1081G>A (p.Gly361Arg) c.1306G>A (p.Gly436Arg) c.1237G>A (p.Gly413Arg) | |
| 11 | g.66850336_66850337delinsCT | CA1979879456 | PC | c.2601_2602delinsAG (p.Pro867=) n.290-272_290-271delinsAG c.*610_*611delinsAG (n.*610_*611delinsAG) c.*1077_*1078delinsAG (n.*1077_*1078delinsAG) c.-40_-39delinsAG (n.-40_-39delinsAG) c.1080_1081delinsAG (p.Pro360=) c.1305_1306delinsAG (p.Pro435=) c.1236_1237delinsAG (p.Pro412=) | |
| 11 | g.66850337del | CA475500762 | PC | c.2601del (p.Gly869AlafsTer?) n.290-272del c.*610del (n.*610del) c.*1077del (n.*1077del) c.-40del (n.-40del) c.1080del (p.Gly362AlafsTer?) c.1305del (p.Gly437AlafsTer?) c.1236del (p.Gly414AlafsTer?) | dbSNP COSMIC |
| 11 | g.66850337T>A | CA475500765 | PC | c.2601A>T (p.Pro867=) n.290-272A>T c.*610A>T (n.*610A>T) c.*1077A>T (n.*1077A>T) c.-40A>T (n.-40A>T) c.1080A>T (p.Pro360=) c.1305A>T (p.Pro435=) c.1236A>T (p.Pro412=) | |
| 11 | g.66850337T>C | CA475500764 | PC | c.2601A>G (p.Pro867=) n.290-272A>G c.*610A>G (n.*610A>G) c.*1077A>G (n.*1077A>G) c.-40A>G (n.-40A>G) c.1080A>G (p.Pro360=) c.1305A>G (p.Pro435=) c.1236A>G (p.Pro412=) | |
| 11 | g.66850337T>G | CA475500763 | PC | c.2601A>C (p.Pro867=) n.290-272A>C c.*610A>C (n.*610A>C) c.*1077A>C (n.*1077A>C) c.-40A>C (n.-40A>C) c.1080A>C (p.Pro360=) c.1305A>C (p.Pro435=) c.1236A>C (p.Pro412=) | |
| 11 | g.66850338G>A | CA381492605 | PC | c.2600C>T (p.Pro867Leu) n.290-273C>T c.*609C>T (n.*609C>T) c.*1076C>T (n.*1076C>T) c.-41C>T (n.-41C>T) c.1079C>T (p.Pro360Leu) c.1304C>T (p.Pro435Leu) c.1235C>T (p.Pro412Leu) | |
| 11 | g.66850338G>C | CA224122575 | PC | c.2600C>G (p.Pro867Arg) n.290-273C>G c.*609C>G (n.*609C>G) c.*1076C>G (n.*1076C>G) c.-41C>G (n.-41C>G) c.1079C>G (p.Pro360Arg) c.1304C>G (p.Pro435Arg) c.1235C>G (p.Pro412Arg) | dbSNP gnomAD v4 |
| 11 | g.66850338G= | CA1979879460 | PC | c.2600C= (p.Pro867=) n.290-273C= c.*609C= (n.*609C=) c.*1076C= (n.*1076C=) c.-41C= (n.-41C=) c.1079C= (p.Pro360=) c.1304C= (p.Pro435=) c.1235C= (p.Pro412=) | |
| 11 | g.66850338G>T | CA381492606 | PC | c.2600C>A (p.Pro867Gln) n.290-273C>A c.*609C>A (n.*609C>A) c.*1076C>A (n.*1076C>A) c.-41C>A (n.-41C>A) c.1079C>A (p.Pro360Gln) c.1304C>A (p.Pro435Gln) c.1235C>A (p.Pro412Gln) | |
| 11 | g.66850339G>A | CA381492609 | PC | c.2599C>T (p.Pro867Ser) n.290-274C>T c.*608C>T (n.*608C>T) c.*1075C>T (n.*1075C>T) c.-42C>T (n.-42C>T) c.1078C>T (p.Pro360Ser) c.1303C>T (p.Pro435Ser) c.1234C>T (p.Pro412Ser) | |
| 11 | g.66850339G>C | CA381492608 | PC | c.2599C>G (p.Pro867Ala) n.290-274C>G c.*608C>G (n.*608C>G) c.*1075C>G (n.*1075C>G) c.-42C>G (n.-42C>G) c.1078C>G (p.Pro360Ala) c.1303C>G (p.Pro435Ala) c.1234C>G (p.Pro412Ala) | |
| 11 | g.66850339G>T | CA381492607 | PC | c.2599C>A (p.Pro867Thr) n.290-274C>A c.*608C>A (n.*608C>A) c.*1075C>A (n.*1075C>A) c.-42C>A (n.-42C>A) c.1078C>A (p.Pro360Thr) c.1303C>A (p.Pro435Thr) c.1234C>A (p.Pro412Thr) | |
| 11 | g.66850340G>A | CA475500770 | PC | c.2598C>T (p.Ile866=) n.290-275C>T c.*607C>T (n.*607C>T) c.*1074C>T (n.*1074C>T) c.-43C>T (n.-43C>T) c.1077C>T (p.Ile359=) c.1302C>T (p.Ile434=) c.1233C>T (p.Ile411=) | dbSNP |
| 11 | g.66850340G>C | CA381492610 | PC | c.2598C>G (p.Ile866Met) n.290-275C>G c.*607C>G (n.*607C>G) c.*1074C>G (n.*1074C>G) c.-43C>G (n.-43C>G) c.1077C>G (p.Ile359Met) c.1302C>G (p.Ile434Met) c.1233C>G (p.Ile411Met) | gnomAD v4 |
| 11 | g.66850340G= | CA1979879464 | PC | c.2598C= (p.Ile866=) n.290-275C= c.*607C= (n.*607C=) c.*1074C= (n.*1074C=) c.-43C= (n.-43C=) c.1077C= (p.Ile359=) c.1302C= (p.Ile434=) c.1233C= (p.Ile411=) | |
| 11 | g.66850340G>T | CA475500769 | PC | c.2598C>A (p.Ile866=) n.290-275C>A c.*607C>A (n.*607C>A) c.*1074C>A (n.*1074C>A) c.-43C>A (n.-43C>A) c.1077C>A (p.Ile359=) c.1302C>A (p.Ile434=) c.1233C>A (p.Ile411=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850341A>C | CA381492611 | PC | c.2597T>G (p.Ile866Ser) n.290-276T>G c.*606T>G (n.*606T>G) c.*1073T>G (n.*1073T>G) c.-44T>G (n.-44T>G) c.1076T>G (p.Ile359Ser) c.1301T>G (p.Ile434Ser) c.1232T>G (p.Ile411Ser) | |
| 11 | g.66850341A>G | CA381492612 | PC | c.2597T>C (p.Ile866Thr) n.290-276T>C c.*606T>C (n.*606T>C) c.*1073T>C (n.*1073T>C) c.-44T>C (n.-44T>C) c.1076T>C (p.Ile359Thr) c.1301T>C (p.Ile434Thr) c.1232T>C (p.Ile411Thr) | |
| 11 | g.66850341A>T | CA381492613 | PC | c.2597T>A (p.Ile866Asn) n.290-276T>A c.*606T>A (n.*606T>A) c.*1073T>A (n.*1073T>A) c.-44T>A (n.-44T>A) c.1076T>A (p.Ile359Asn) c.1301T>A (p.Ile434Asn) c.1232T>A (p.Ile411Asn) | |
| 11 | g.66850342T>A | CA381492614 | PC | c.2596A>T (p.Ile866Phe) n.290-277A>T c.*605A>T (n.*605A>T) c.*1072A>T (n.*1072A>T) c.1075A>T (p.Ile359Phe) c.1300A>T (p.Ile434Phe) c.1231A>T (p.Ile411Phe) | |
| 11 | g.66850342T>C | CA381492615 | PC | c.2596A>G (p.Ile866Val) n.290-277A>G c.*605A>G (n.*605A>G) c.*1072A>G (n.*1072A>G) c.1075A>G (p.Ile359Val) c.1300A>G (p.Ile434Val) c.1231A>G (p.Ile411Val) | |
| 11 | g.66850342T>G | CA381492616 | PC | c.2596A>C (p.Ile866Leu) n.290-277A>C c.*605A>C (n.*605A>C) c.*1072A>C (n.*1072A>C) c.1075A>C (p.Ile359Leu) c.1300A>C (p.Ile434Leu) c.1231A>C (p.Ile411Leu) | |
| 11 | g.66850343C>A | CA381492617 | PC | c.2595G>T (p.Glu865Asp) n.290-278G>T c.*604G>T (n.*604G>T) c.*1071G>T (n.*1071G>T) c.1074G>T (p.Glu358Asp) c.1299G>T (p.Glu433Asp) c.1230G>T (p.Glu410Asp) | |
| 11 | g.66850343C= | CA1979879466 | PC | c.2595G= (p.Glu865=) n.290-278G= c.*604G= (n.*604G=) c.*1071G= (n.*1071G=) c.1074G= (p.Glu358=) c.1299G= (p.Glu433=) c.1230G= (p.Glu410=) | |
| 11 | g.66850343C>G | CA381492618 | PC | c.2595G>C (p.Glu865Asp) n.290-278G>C c.*604G>C (n.*604G>C) c.*1071G>C (n.*1071G>C) c.1074G>C (p.Glu358Asp) c.1299G>C (p.Glu433Asp) c.1230G>C (p.Glu410Asp) | |
| 11 | g.66850343C>T | CA224122576 | PC | c.2595G>A (p.Glu865=) n.290-278G>A c.*604G>A (n.*604G>A) c.*1071G>A (n.*1071G>A) c.1074G>A (p.Glu358=) c.1299G>A (p.Glu433=) c.1230G>A (p.Glu410=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850344T>A | CA381492619 | PC | c.2594A>T (p.Glu865Val) n.290-279A>T c.*603A>T (n.*603A>T) c.*1070A>T (n.*1070A>T) c.1073A>T (p.Glu358Val) c.1298A>T (p.Glu433Val) c.1229A>T (p.Glu410Val) | |
| 11 | g.66850344T>C | CA381492620 | PC | c.2594A>G (p.Glu865Gly) n.290-279A>G c.*603A>G (n.*603A>G) c.*1070A>G (n.*1070A>G) c.1073A>G (p.Glu358Gly) c.1298A>G (p.Glu433Gly) c.1229A>G (p.Glu410Gly) | |
| 11 | g.66850344T>G | CA381492621 | PC | c.2594A>C (p.Glu865Ala) n.290-279A>C c.*603A>C (n.*603A>C) c.*1070A>C (n.*1070A>C) c.1073A>C (p.Glu358Ala) c.1298A>C (p.Glu433Ala) c.1229A>C (p.Glu410Ala) | |
| 11 | g.66850345C>A | CA381492622 | PC | c.2593G>T (p.Glu865Ter) n.290-280G>T c.*602G>T (n.*602G>T) c.*1069G>T (n.*1069G>T) c.1072G>T (p.Glu358Ter) c.1297G>T (p.Glu433Ter) c.1228G>T (p.Glu410Ter) | |
| 11 | g.66850345C>G | CA381492624 | PC | c.2593G>C (p.Glu865Gln) n.290-280G>C c.*602G>C (n.*602G>C) c.*1069G>C (n.*1069G>C) c.1072G>C (p.Glu358Gln) c.1297G>C (p.Glu433Gln) c.1228G>C (p.Glu410Gln) | |
| 11 | g.66850345C>T | CA381492623 | PC | c.2593G>A (p.Glu865Lys) n.290-280G>A c.*602G>A (n.*602G>A) c.*1069G>A (n.*1069G>A) c.1072G>A (p.Glu358Lys) c.1297G>A (p.Glu433Lys) c.1228G>A (p.Glu410Lys) | gnomAD v4 |
| 11 | g.66850346A= | CA1979879470 | PC | c.2592T= (p.Asn864=) n.290-281T= c.*601T= (n.*601T=) c.*1068T= (n.*1068T=) c.1071T= (p.Asn357=) c.1296T= (p.Asn432=) c.1227T= (p.Asn409=) | |
| 11 | g.66850346A>C | CA381492625 | PC | c.2592T>G (p.Asn864Lys) n.290-281T>G c.*601T>G (n.*601T>G) c.*1068T>G (n.*1068T>G) c.1071T>G (p.Asn357Lys) c.1296T>G (p.Asn432Lys) c.1227T>G (p.Asn409Lys) | gnomAD v4 |
| 11 | g.66850346A>G | CA6131031 | PC | c.2592T>C (p.Asn864=) n.290-281T>C c.*601T>C (n.*601T>C) c.*1068T>C (n.*1068T>C) c.1071T>C (p.Asn357=) c.1296T>C (p.Asn432=) c.1227T>C (p.Asn409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850346A>T | CA381492626 | PC | c.2592T>A (p.Asn864Lys) n.290-281T>A c.*601T>A (n.*601T>A) c.*1068T>A (n.*1068T>A) c.1071T>A (p.Asn357Lys) c.1296T>A (p.Asn432Lys) c.1227T>A (p.Asn409Lys) | |
| 11 | g.66850347T>A | CA381492627 | PC | c.2591A>T (p.Asn864Ile) n.290-282A>T c.*600A>T (n.*600A>T) c.*1067A>T (n.*1067A>T) c.1070A>T (p.Asn357Ile) c.1295A>T (p.Asn432Ile) c.1226A>T (p.Asn409Ile) | |
| 11 | g.66850347T>C | CA381492628 | PC | c.2591A>G (p.Asn864Ser) n.290-282A>G c.*600A>G (n.*600A>G) c.*1067A>G (n.*1067A>G) c.1070A>G (p.Asn357Ser) c.1295A>G (p.Asn432Ser) c.1226A>G (p.Asn409Ser) | |
| 11 | g.66850347T>G | CA381492629 | PC | c.2591A>C (p.Asn864Thr) n.290-282A>C c.*600A>C (n.*600A>C) c.*1067A>C (n.*1067A>C) c.1070A>C (p.Asn357Thr) c.1295A>C (p.Asn432Thr) c.1226A>C (p.Asn409Thr) | |
| 11 | g.66850350dup | CA2580084574 | PC | c.2591dup (p.Asn864LysfsTer2) n.290-282dup c.*600dup (n.*600dup) c.*1067dup (n.*1067dup) c.1070dup (p.Asn357LysfsTer2) c.1295dup (p.Asn432LysfsTer2) c.1226dup (p.Asn409LysfsTer2) | ClinVar |
| 11 | g.66850348T>A | CA381492630 | PC | c.2590A>T (p.Asn864Tyr) n.290-283A>T c.*599A>T (n.*599A>T) c.*1066A>T (n.*1066A>T) c.1069A>T (p.Asn357Tyr) c.1294A>T (p.Asn432Tyr) c.1225A>T (p.Asn409Tyr) | |
| 11 | g.66850348T>C | CA381492631 | PC | c.2590A>G (p.Asn864Asp) n.290-283A>G c.*599A>G (n.*599A>G) c.*1066A>G (n.*1066A>G) c.1069A>G (p.Asn357Asp) c.1294A>G (p.Asn432Asp) c.1225A>G (p.Asn409Asp) | |
| 11 | g.66850348T>G | CA381492632 | PC | c.2590A>C (p.Asn864His) n.290-283A>C c.*599A>C (n.*599A>C) c.*1066A>C (n.*1066A>C) c.1069A>C (p.Asn357His) c.1294A>C (p.Asn432His) c.1225A>C (p.Asn409His) |