| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31943060_31943062delinsGAC | CA1619373329 | C2 | c.1135_1137delinsGAC (p.Asp379=) c.679_681delinsGAC (p.Asp227=) c.1321_1323delinsGAC (p.Asp441=) c.682_684delinsGAC (p.Asp228=) c.916_918delinsGAC (p.Asp306=) c.925_927delinsGAC (p.Asp309=) n.691_693delinsGAC n.793_795delinsGAC c.642_644delinsGAC c.862_864delinsGAC (p.Asp288=) c.583_585delinsGAC (p.Asp195=) c.674-165_674-163delinsGAC (n.674-165_674-163delinsGAC) c.*1034_*1036delinsGAC (n.*1034_*1036delinsGAC) c.533_535delinsGAC n.1597_1599delinsGAC c.1234_1236delinsGAC (p.Asp412=) | |
| 6 | g.31943061A>C | CA363376244 | C2 | c.1136A>C (p.Asp379Ala) c.680A>C (p.Asp227Ala) c.1322A>C (p.Asp441Ala) c.683A>C (p.Asp228Ala) c.917A>C (p.Asp306Ala) c.926A>C (p.Asp309Ala) n.692A>C n.794A>C c.643A>C c.863A>C (p.Asp288Ala) c.584A>C (p.Asp195Ala) c.674-164A>C (n.674-164A>C) c.*1035A>C (n.*1035A>C) c.534A>C n.1598A>C c.1235A>C (p.Asp412Ala) | |
| 6 | g.31943061A>G | CA363376245 | C2 | c.1136A>G (p.Asp379Gly) c.680A>G (p.Asp227Gly) c.1322A>G (p.Asp441Gly) c.683A>G (p.Asp228Gly) c.917A>G (p.Asp306Gly) c.926A>G (p.Asp309Gly) n.692A>G n.794A>G c.643A>G c.863A>G (p.Asp288Gly) c.584A>G (p.Asp195Gly) c.674-164A>G (n.674-164A>G) c.*1035A>G (n.*1035A>G) c.534A>G n.1598A>G c.1235A>G (p.Asp412Gly) | |
| 6 | g.31943061A>T | CA363376247 | C2 | c.1136A>T (p.Asp379Val) c.680A>T (p.Asp227Val) c.1322A>T (p.Asp441Val) c.683A>T (p.Asp228Val) c.917A>T (p.Asp306Val) c.926A>T (p.Asp309Val) n.692A>T n.794A>T c.643A>T c.863A>T (p.Asp288Val) c.584A>T (p.Asp195Val) c.674-164A>T (n.674-164A>T) c.*1035A>T (n.*1035A>T) c.534A>T n.1598A>T c.1235A>T (p.Asp412Val) | |
| 6 | g.31943064_31943065del | CA566364356 | C2 | c.1139_1140del (p.Thr380LysfsTer8) c.683_684del (p.Thr228LysfsTer8) c.1325_1326del (p.Thr442LysfsTer8) c.686_687del (p.Thr229LysfsTer8) c.920_921del (p.Thr307LysfsTer8) c.929_930del (p.Thr310LysfsTer8) n.695_696del n.797_798del c.646_647del c.866_867del (p.Thr289LysfsTer8) c.587_588del (p.Thr196LysfsTer8) c.674-161_674-160del (n.674-161_674-160del) c.*1038_*1039del (n.*1038_*1039del) c.537_538del n.1601_1602del c.1238_1239del (p.Thr413LysfsTer8) | dbSNP gnomAD v2 |
| 6 | g.31943062C>A | CA363376250 | C2 | c.1137C>A (p.Asp379Glu) c.681C>A (p.Asp227Glu) c.1323C>A (p.Asp441Glu) c.684C>A (p.Asp228Glu) c.918C>A (p.Asp306Glu) c.927C>A (p.Asp309Glu) n.693C>A n.795C>A c.644C>A c.864C>A (p.Asp288Glu) c.585C>A (p.Asp195Glu) c.674-163C>A (n.674-163C>A) c.*1036C>A (n.*1036C>A) c.535C>A n.1599C>A c.1236C>A (p.Asp412Glu) | |
| 6 | g.31943062C>G | CA363376252 | C2 | c.1137C>G (p.Asp379Glu) c.681C>G (p.Asp227Glu) c.1323C>G (p.Asp441Glu) c.684C>G (p.Asp228Glu) c.918C>G (p.Asp306Glu) c.927C>G (p.Asp309Glu) n.693C>G n.795C>G c.644C>G c.864C>G (p.Asp288Glu) c.585C>G (p.Asp195Glu) c.674-163C>G (n.674-163C>G) c.*1036C>G (n.*1036C>G) c.535C>G n.1599C>G c.1236C>G (p.Asp412Glu) | |
| 6 | g.31943062C>T | CA449679846 | C2 | c.1137C>T (p.Asp379=) c.681C>T (p.Asp227=) c.1323C>T (p.Asp441=) c.684C>T (p.Asp228=) c.918C>T (p.Asp306=) c.927C>T (p.Asp309=) n.693C>T n.795C>T c.644C>T c.864C>T (p.Asp288=) c.585C>T (p.Asp195=) c.674-163C>T (n.674-163C>T) c.*1036C>T (n.*1036C>T) c.535C>T n.1599C>T c.1236C>T (p.Asp412=) | |
| 6 | g.31943063A= | CA1619373330 | C2 | c.1138A= (p.Thr380=) c.682A= (p.Thr228=) c.1324A= (p.Thr442=) c.685A= (p.Thr229=) c.919A= (p.Thr307=) c.928A= (p.Thr310=) n.694A= n.796A= c.645A= c.865A= (p.Thr289=) c.586A= (p.Thr196=) c.674-162A= (n.674-162A=) c.*1037A= (n.*1037A=) c.536A= n.1600A= c.1237A= (p.Thr413=) | |
| 6 | g.31943063A>C | CA363376256 | C2 | c.1138A>C (p.Thr380Pro) c.682A>C (p.Thr228Pro) c.1324A>C (p.Thr442Pro) c.685A>C (p.Thr229Pro) c.919A>C (p.Thr307Pro) c.928A>C (p.Thr310Pro) n.694A>C n.796A>C c.645A>C c.865A>C (p.Thr289Pro) c.586A>C (p.Thr196Pro) c.674-162A>C (n.674-162A>C) c.*1037A>C (n.*1037A>C) c.536A>C n.1600A>C c.1237A>C (p.Thr413Pro) | |
| 6 | g.31943063A>G | CA3727676 | C2 | c.1138A>G (p.Thr380Ala) c.682A>G (p.Thr228Ala) c.1324A>G (p.Thr442Ala) c.685A>G (p.Thr229Ala) c.919A>G (p.Thr307Ala) c.928A>G (p.Thr310Ala) n.694A>G n.796A>G c.645A>G c.865A>G (p.Thr289Ala) c.586A>G (p.Thr196Ala) c.674-162A>G (n.674-162A>G) c.*1037A>G (n.*1037A>G) c.536A>G n.1600A>G c.1237A>G (p.Thr413Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31943063A>T | CA363376260 | C2 | c.1138A>T (p.Thr380Ser) c.682A>T (p.Thr228Ser) c.1324A>T (p.Thr442Ser) c.685A>T (p.Thr229Ser) c.919A>T (p.Thr307Ser) c.928A>T (p.Thr310Ser) n.694A>T n.796A>T c.645A>T c.865A>T (p.Thr289Ser) c.586A>T (p.Thr196Ser) c.674-162A>T (n.674-162A>T) c.*1037A>T (n.*1037A>T) c.536A>T n.1600A>T c.1237A>T (p.Thr413Ser) | |
| 6 | g.31943064C>A | CA363376264 | C2 | c.1139C>A (p.Thr380Lys) c.683C>A (p.Thr228Lys) c.1325C>A (p.Thr442Lys) c.686C>A (p.Thr229Lys) c.920C>A (p.Thr307Lys) c.929C>A (p.Thr310Lys) n.695C>A n.797C>A c.646C>A c.866C>A (p.Thr289Lys) c.587C>A (p.Thr196Lys) c.674-161C>A (n.674-161C>A) c.*1038C>A (n.*1038C>A) c.537C>A n.1601C>A c.1238C>A (p.Thr413Lys) | |
| 6 | g.31943064C= | CA1619373331 | C2 | c.1139C= (p.Thr380=) c.683C= (p.Thr228=) c.1325C= (p.Thr442=) c.686C= (p.Thr229=) c.920C= (p.Thr307=) c.929C= (p.Thr310=) n.695C= n.797C= c.646C= c.866C= (p.Thr289=) c.587C= (p.Thr196=) c.674-161C= (n.674-161C=) c.*1038C= (n.*1038C=) c.537C= n.1601C= c.1238C= (p.Thr413=) | |
| 6 | g.31943064C>G | CA363376265 | C2 | c.1139C>G (p.Thr380Arg) c.683C>G (p.Thr228Arg) c.1325C>G (p.Thr442Arg) c.686C>G (p.Thr229Arg) c.920C>G (p.Thr307Arg) c.929C>G (p.Thr310Arg) n.695C>G n.797C>G c.646C>G c.866C>G (p.Thr289Arg) c.587C>G (p.Thr196Arg) c.674-161C>G (n.674-161C>G) c.*1038C>G (n.*1038C>G) c.537C>G n.1601C>G c.1238C>G (p.Thr413Arg) | |
| 6 | g.31943064C>T | CA363376268 | C2 | c.1139C>T (p.Thr380Ile) c.683C>T (p.Thr228Ile) c.1325C>T (p.Thr442Ile) c.686C>T (p.Thr229Ile) c.920C>T (p.Thr307Ile) c.929C>T (p.Thr310Ile) n.695C>T n.797C>T c.646C>T c.866C>T (p.Thr289Ile) c.587C>T (p.Thr196Ile) c.674-161C>T (n.674-161C>T) c.*1038C>T (n.*1038C>T) c.537C>T n.1601C>T c.1238C>T (p.Thr413Ile) | dbSNP gnomAD v4 |
| 6 | g.31943065A>C | CA449679859 | C2 | c.1140A>C (p.Thr380=) c.684A>C (p.Thr228=) c.1326A>C (p.Thr442=) c.687A>C (p.Thr229=) c.921A>C (p.Thr307=) c.930A>C (p.Thr310=) n.696A>C n.798A>C c.647A>C c.867A>C (p.Thr289=) c.588A>C (p.Thr196=) c.674-160A>C (n.674-160A>C) c.*1039A>C (n.*1039A>C) c.538A>C n.1602A>C c.1239A>C (p.Thr413=) | |
| 6 | g.31943065A>G | CA449679861 | C2 | c.1140A>G (p.Thr380=) c.684A>G (p.Thr228=) c.1326A>G (p.Thr442=) c.687A>G (p.Thr229=) c.921A>G (p.Thr307=) c.930A>G (p.Thr310=) n.696A>G n.798A>G c.647A>G c.867A>G (p.Thr289=) c.588A>G (p.Thr196=) c.674-160A>G (n.674-160A>G) c.*1039A>G (n.*1039A>G) c.538A>G n.1602A>G c.1239A>G (p.Thr413=) | |
| 6 | g.31943065A>T | CA449679862 | C2 | c.1140A>T (p.Thr380=) c.684A>T (p.Thr228=) c.1326A>T (p.Thr442=) c.687A>T (p.Thr229=) c.921A>T (p.Thr307=) c.930A>T (p.Thr310=) n.696A>T n.798A>T c.647A>T c.867A>T (p.Thr289=) c.588A>T (p.Thr196=) c.674-160A>T (n.674-160A>T) c.*1039A>T (n.*1039A>T) c.538A>T n.1602A>T c.1239A>T (p.Thr413=) | |
| 6 | g.31943066A>C | CA363376275 | C2 | c.1141A>C (p.Lys381Gln) c.685A>C (p.Lys229Gln) c.1327A>C (p.Lys443Gln) c.688A>C (p.Lys230Gln) c.922A>C (p.Lys308Gln) c.931A>C (p.Lys311Gln) n.697A>C n.799A>C c.648A>C c.868A>C (p.Lys290Gln) c.589A>C (p.Lys197Gln) c.674-159A>C (n.674-159A>C) c.*1040A>C (n.*1040A>C) c.539A>C n.1603A>C c.1240A>C (p.Lys414Gln) | gnomAD v4 |
| 6 | g.31943066A>G | CA363376273 | C2 | c.1141A>G (p.Lys381Glu) c.685A>G (p.Lys229Glu) c.1327A>G (p.Lys443Glu) c.688A>G (p.Lys230Glu) c.922A>G (p.Lys308Glu) c.931A>G (p.Lys311Glu) n.697A>G n.799A>G c.648A>G c.868A>G (p.Lys290Glu) c.589A>G (p.Lys197Glu) c.674-159A>G (n.674-159A>G) c.*1040A>G (n.*1040A>G) c.539A>G n.1603A>G c.1240A>G (p.Lys414Glu) | gnomAD v4 |
| 6 | g.31943066A>T | CA363376270 | C2 | c.1141A>T (p.Lys381Ter) c.685A>T (p.Lys229Ter) c.1327A>T (p.Lys443Ter) c.688A>T (p.Lys230Ter) c.922A>T (p.Lys308Ter) c.931A>T (p.Lys311Ter) n.697A>T n.799A>T c.648A>T c.868A>T (p.Lys290Ter) c.589A>T (p.Lys197Ter) c.674-159A>T (n.674-159A>T) c.*1040A>T (n.*1040A>T) c.539A>T n.1603A>T c.1240A>T (p.Lys414Ter) | |
| 6 | g.31943067A>C | CA363376278 | C2 | c.1142A>C (p.Lys381Thr) c.686A>C (p.Lys229Thr) c.1328A>C (p.Lys443Thr) c.689A>C (p.Lys230Thr) c.923A>C (p.Lys308Thr) c.932A>C (p.Lys311Thr) n.698A>C n.800A>C c.649A>C c.869A>C (p.Lys290Thr) c.590A>C (p.Lys197Thr) c.674-158A>C (n.674-158A>C) c.*1041A>C (n.*1041A>C) c.540A>C n.1604A>C c.1241A>C (p.Lys414Thr) | |
| 6 | g.31943067A>G | CA363376279 | C2 | c.1142A>G (p.Lys381Arg) c.686A>G (p.Lys229Arg) c.1328A>G (p.Lys443Arg) c.689A>G (p.Lys230Arg) c.923A>G (p.Lys308Arg) c.932A>G (p.Lys311Arg) n.698A>G n.800A>G c.649A>G c.869A>G (p.Lys290Arg) c.590A>G (p.Lys197Arg) c.674-158A>G (n.674-158A>G) c.*1041A>G (n.*1041A>G) c.540A>G n.1604A>G c.1241A>G (p.Lys414Arg) | |
| 6 | g.31943067A>T | CA363376282 | C2 | c.1142A>T (p.Lys381Met) c.686A>T (p.Lys229Met) c.1328A>T (p.Lys443Met) c.689A>T (p.Lys230Met) c.923A>T (p.Lys308Met) c.932A>T (p.Lys311Met) n.698A>T n.800A>T c.649A>T c.869A>T (p.Lys290Met) c.590A>T (p.Lys197Met) c.674-158A>T (n.674-158A>T) c.*1041A>T (n.*1041A>T) c.540A>T n.1604A>T c.1241A>T (p.Lys414Met) | |
| 6 | g.31943068G>A | CA3727677 | C2 | c.1143G>A (p.Lys381=) c.687G>A (p.Lys229=) c.1329G>A (p.Lys443=) c.690G>A (p.Lys230=) c.924G>A (p.Lys308=) c.933G>A (p.Lys311=) n.699G>A n.801G>A c.650G>A c.870G>A (p.Lys290=) c.591G>A (p.Lys197=) c.674-157G>A (n.674-157G>A) c.*1042G>A (n.*1042G>A) c.541G>A n.1605G>A c.1242G>A (p.Lys414=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.31943068G>C | CA363376286 | C2 | c.1143G>C (p.Lys381Asn) c.687G>C (p.Lys229Asn) c.1329G>C (p.Lys443Asn) c.690G>C (p.Lys230Asn) c.924G>C (p.Lys308Asn) c.933G>C (p.Lys311Asn) n.699G>C n.801G>C c.650G>C c.870G>C (p.Lys290Asn) c.591G>C (p.Lys197Asn) c.674-157G>C (n.674-157G>C) c.*1042G>C (n.*1042G>C) c.541G>C n.1605G>C c.1242G>C (p.Lys414Asn) | |
| 6 | g.31943068G= | CA1619373332 | C2 | c.1143G= (p.Lys381=) c.687G= (p.Lys229=) c.1329G= (p.Lys443=) c.690G= (p.Lys230=) c.924G= (p.Lys308=) c.933G= (p.Lys311=) n.699G= n.801G= c.650G= c.870G= (p.Lys290=) c.591G= (p.Lys197=) c.674-157G= (n.674-157G=) c.*1042G= (n.*1042G=) c.541G= n.1605G= c.1242G= (p.Lys414=) | |
| 6 | g.31943068G>T | CA363376288 | C2 | c.1143G>T (p.Lys381Asn) c.687G>T (p.Lys229Asn) c.1329G>T (p.Lys443Asn) c.690G>T (p.Lys230Asn) c.924G>T (p.Lys308Asn) c.933G>T (p.Lys311Asn) n.699G>T n.801G>T c.650G>T c.870G>T (p.Lys290Asn) c.591G>T (p.Lys197Asn) c.674-157G>T (n.674-157G>T) c.*1042G>T (n.*1042G>T) c.541G>T n.1605G>T c.1242G>T (p.Lys414Asn) | |
| 6 | g.31943069G>A | CA363376295 | C2 | c.1144G>A (p.Ala382Thr) c.688G>A (p.Ala230Thr) c.1330G>A (p.Ala444Thr) c.691G>A (p.Ala231Thr) c.925G>A (p.Ala309Thr) c.934G>A (p.Ala312Thr) n.700G>A n.802G>A c.651G>A c.871G>A (p.Ala291Thr) c.592G>A (p.Ala198Thr) c.674-156G>A (n.674-156G>A) c.*1043G>A (n.*1043G>A) c.542G>A n.1606G>A c.1243G>A (p.Ala415Thr) | |
| 6 | g.31943069G>C | CA363376292 | C2 | c.1144G>C (p.Ala382Pro) c.688G>C (p.Ala230Pro) c.1330G>C (p.Ala444Pro) c.691G>C (p.Ala231Pro) c.925G>C (p.Ala309Pro) c.934G>C (p.Ala312Pro) n.700G>C n.802G>C c.651G>C c.871G>C (p.Ala291Pro) c.592G>C (p.Ala198Pro) c.674-156G>C (n.674-156G>C) c.*1043G>C (n.*1043G>C) c.542G>C n.1606G>C c.1243G>C (p.Ala415Pro) | |
| 6 | g.31943069G= | CA1619373333 | C2 | c.1144G= (p.Ala382=) c.688G= (p.Ala230=) c.1330G= (p.Ala444=) c.691G= (p.Ala231=) c.925G= (p.Ala309=) c.934G= (p.Ala312=) n.700G= n.802G= c.651G= c.871G= (p.Ala291=) c.592G= (p.Ala198=) c.674-156G= (n.674-156G=) c.*1043G= (n.*1043G=) c.542G= n.1606G= c.1243G= (p.Ala415=) | |
| 6 | g.31943069G>T | CA3727678 | C2 | c.1144G>T (p.Ala382Ser) c.688G>T (p.Ala230Ser) c.1330G>T (p.Ala444Ser) c.691G>T (p.Ala231Ser) c.925G>T (p.Ala309Ser) c.934G>T (p.Ala312Ser) n.700G>T n.802G>T c.651G>T c.871G>T (p.Ala291Ser) c.592G>T (p.Ala198Ser) c.674-156G>T (n.674-156G>T) c.*1043G>T (n.*1043G>T) c.542G>T n.1606G>T c.1243G>T (p.Ala415Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.31943070C>A | CA363376299 | C2 | c.1145C>A (p.Ala382Asp) c.689C>A (p.Ala230Asp) c.1331C>A (p.Ala444Asp) c.692C>A (p.Ala231Asp) c.926C>A (p.Ala309Asp) c.935C>A (p.Ala312Asp) n.701C>A n.803C>A c.652C>A c.872C>A (p.Ala291Asp) c.593C>A (p.Ala198Asp) c.674-155C>A (n.674-155C>A) c.*1044C>A (n.*1044C>A) c.543C>A n.1607C>A c.1244C>A (p.Ala415Asp) | |
| 6 | g.31943070C= | CA1619373334 | C2 | c.1145C= (p.Ala382=) c.689C= (p.Ala230=) c.1331C= (p.Ala444=) c.692C= (p.Ala231=) c.926C= (p.Ala309=) c.935C= (p.Ala312=) n.701C= n.803C= c.652C= c.872C= (p.Ala291=) c.593C= (p.Ala198=) c.674-155C= (n.674-155C=) c.*1044C= (n.*1044C=) c.543C= n.1607C= c.1244C= (p.Ala415=) | |
| 6 | g.31943070C>G | CA363376300 | C2 | c.1145C>G (p.Ala382Gly) c.689C>G (p.Ala230Gly) c.1331C>G (p.Ala444Gly) c.692C>G (p.Ala231Gly) c.926C>G (p.Ala309Gly) c.935C>G (p.Ala312Gly) n.701C>G n.803C>G c.652C>G c.872C>G (p.Ala291Gly) c.593C>G (p.Ala198Gly) c.674-155C>G (n.674-155C>G) c.*1044C>G (n.*1044C>G) c.543C>G n.1607C>G c.1244C>G (p.Ala415Gly) | |
| 6 | g.31943070C>T | CA363376303 | C2 | c.1145C>T (p.Ala382Val) c.689C>T (p.Ala230Val) c.1331C>T (p.Ala444Val) c.692C>T (p.Ala231Val) c.926C>T (p.Ala309Val) c.935C>T (p.Ala312Val) n.701C>T n.803C>T c.652C>T c.872C>T (p.Ala291Val) c.593C>T (p.Ala198Val) c.674-155C>T (n.674-155C>T) c.*1044C>T (n.*1044C>T) c.543C>T n.1607C>T c.1244C>T (p.Ala415Val) | dbSNP |
| 6 | g.31943071T>A | CA449679889 | C2 | c.1146T>A (p.Ala382=) c.690T>A (p.Ala230=) c.1332T>A (p.Ala444=) c.693T>A (p.Ala231=) c.927T>A (p.Ala309=) c.936T>A (p.Ala312=) n.702T>A n.804T>A c.653T>A c.873T>A (p.Ala291=) c.594T>A (p.Ala198=) c.674-154T>A (n.674-154T>A) c.*1045T>A (n.*1045T>A) c.544T>A n.1608T>A c.1245T>A (p.Ala415=) | |
| 6 | g.31943071T>C | CA449679891 | C2 | c.1146T>C (p.Ala382=) c.690T>C (p.Ala230=) c.1332T>C (p.Ala444=) c.693T>C (p.Ala231=) c.927T>C (p.Ala309=) c.936T>C (p.Ala312=) n.702T>C n.804T>C c.653T>C c.873T>C (p.Ala291=) c.594T>C (p.Ala198=) c.674-154T>C (n.674-154T>C) c.*1045T>C (n.*1045T>C) c.544T>C n.1608T>C c.1245T>C (p.Ala415=) | |
| 6 | g.31943071T>G | CA449679893 | C2 | c.1146T>G (p.Ala382=) c.690T>G (p.Ala230=) c.1332T>G (p.Ala444=) c.693T>G (p.Ala231=) c.927T>G (p.Ala309=) c.936T>G (p.Ala312=) n.702T>G n.804T>G c.653T>G c.873T>G (p.Ala291=) c.594T>G (p.Ala198=) c.674-154T>G (n.674-154T>G) c.*1045T>G (n.*1045T>G) c.544T>G n.1608T>G c.1245T>G (p.Ala415=) | |
| 6 | g.31943072C>A | CA363376305 | C2 | c.1147C>A (p.Leu383Met) c.691C>A (p.Leu231Met) c.1333C>A (p.Leu445Met) c.694C>A (p.Leu232Met) c.928C>A (p.Leu310Met) c.937C>A (p.Leu313Met) n.703C>A n.805C>A c.654C>A c.874C>A (p.Leu292Met) c.595C>A (p.Leu199Met) c.674-153C>A (n.674-153C>A) c.*1046C>A (n.*1046C>A) c.545C>A n.1609C>A c.1246C>A (p.Leu416Met) | |
| 6 | g.31943072C= | CA1619373335 | C2 | c.1147C= (p.Leu383=) c.691C= (p.Leu231=) c.1333C= (p.Leu445=) c.694C= (p.Leu232=) c.928C= (p.Leu310=) c.937C= (p.Leu313=) n.703C= n.805C= c.654C= c.874C= (p.Leu292=) c.595C= (p.Leu199=) c.674-153C= (n.674-153C=) c.*1046C= (n.*1046C=) c.545C= n.1609C= c.1246C= (p.Leu416=) | |
| 6 | g.31943072C>G | CA363376307 | C2 | c.1147C>G (p.Leu383Val) c.691C>G (p.Leu231Val) c.1333C>G (p.Leu445Val) c.694C>G (p.Leu232Val) c.928C>G (p.Leu310Val) c.937C>G (p.Leu313Val) n.703C>G n.805C>G c.654C>G c.874C>G (p.Leu292Val) c.595C>G (p.Leu199Val) c.674-153C>G (n.674-153C>G) c.*1046C>G (n.*1046C>G) c.545C>G n.1609C>G c.1246C>G (p.Leu416Val) | gnomAD v4 |
| 6 | g.31943072C>T | CA449679895 | C2 | c.1147C>T (p.Leu383=) c.691C>T (p.Leu231=) c.1333C>T (p.Leu445=) c.694C>T (p.Leu232=) c.928C>T (p.Leu310=) c.937C>T (p.Leu313=) n.703C>T n.805C>T c.654C>T c.874C>T (p.Leu292=) c.595C>T (p.Leu199=) c.674-153C>T (n.674-153C>T) c.*1046C>T (n.*1046C>T) c.545C>T n.1609C>T c.1246C>T (p.Leu416=) | dbSNP |
| 6 | g.31943073T>A | CA363376309 | C2 | c.1148T>A (p.Leu383Gln) c.692T>A (p.Leu231Gln) c.1334T>A (p.Leu445Gln) c.695T>A (p.Leu232Gln) c.929T>A (p.Leu310Gln) c.938T>A (p.Leu313Gln) n.704T>A n.806T>A c.655T>A c.875T>A (p.Leu292Gln) c.596T>A (p.Leu199Gln) c.674-152T>A (n.674-152T>A) c.*1047T>A (n.*1047T>A) c.546T>A n.1610T>A c.1247T>A (p.Leu416Gln) | |
| 6 | g.31943073T>C | CA363376316 | C2 | c.1148T>C (p.Leu383Pro) c.692T>C (p.Leu231Pro) c.1334T>C (p.Leu445Pro) c.695T>C (p.Leu232Pro) c.929T>C (p.Leu310Pro) c.938T>C (p.Leu313Pro) n.704T>C n.806T>C c.655T>C c.875T>C (p.Leu292Pro) c.596T>C (p.Leu199Pro) c.674-152T>C (n.674-152T>C) c.*1047T>C (n.*1047T>C) c.546T>C n.1610T>C c.1247T>C (p.Leu416Pro) | |
| 6 | g.31943073T>G | CA363376313 | C2 | c.1148T>G (p.Leu383Arg) c.692T>G (p.Leu231Arg) c.1334T>G (p.Leu445Arg) c.695T>G (p.Leu232Arg) c.929T>G (p.Leu310Arg) c.938T>G (p.Leu313Arg) n.704T>G n.806T>G c.655T>G c.875T>G (p.Leu292Arg) c.596T>G (p.Leu199Arg) c.674-152T>G (n.674-152T>G) c.*1047T>G (n.*1047T>G) c.546T>G n.1610T>G c.1247T>G (p.Leu416Arg) | |
| 6 | g.31943074G>A | CA449679902 | C2 | c.1149G>A (p.Leu383=) c.693G>A (p.Leu231=) c.1335G>A (p.Leu445=) c.696G>A (p.Leu232=) c.930G>A (p.Leu310=) c.939G>A (p.Leu313=) n.705G>A n.807G>A c.656G>A c.876G>A (p.Leu292=) c.597G>A (p.Leu199=) c.674-151G>A (n.674-151G>A) c.*1048G>A (n.*1048G>A) c.547G>A n.1611G>A c.1248G>A (p.Leu416=) | ClinVar |
| 6 | g.31943074G>C | CA449679904 | C2 | c.1149G>C (p.Leu383=) c.693G>C (p.Leu231=) c.1335G>C (p.Leu445=) c.696G>C (p.Leu232=) c.930G>C (p.Leu310=) c.939G>C (p.Leu313=) n.705G>C n.807G>C c.656G>C c.876G>C (p.Leu292=) c.597G>C (p.Leu199=) c.674-151G>C (n.674-151G>C) c.*1048G>C (n.*1048G>C) c.547G>C n.1611G>C c.1248G>C (p.Leu416=) | |
| 6 | g.31943074G>T | CA449679906 | C2 | c.1149G>T (p.Leu383=) c.693G>T (p.Leu231=) c.1335G>T (p.Leu445=) c.696G>T (p.Leu232=) c.930G>T (p.Leu310=) c.939G>T (p.Leu313=) n.705G>T n.807G>T c.656G>T c.876G>T (p.Leu292=) c.597G>T (p.Leu199=) c.674-151G>T (n.674-151G>T) c.*1048G>T (n.*1048G>T) c.547G>T n.1611G>T c.1248G>T (p.Leu416=) |