| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |