| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47795896_47805709del | CA658655622 | FBXO11,MSH6 | c.163_3349+2del c.460_3262+2del n.544_4320+2del c.460_2080+2del c.460_3652+2del c.460_1101+2del c.460_3646+2del c.238-2715_3256+2del c.169+2491_170-6451del (n.169+2491_170-6451del) c.*124+2290_*125-6451del (n.*124+2290_*125-6451del) c.458-2715_*2993+2del c.-443_2740+2del c.-279-2715_2740+2del c.-2637_550+2del c.277_3463+2del | |
| 2 | g.47799247_47799279dup | CA2573134915 | FBXO11,MSH6 | c.967_999dup (p.Phe333_Tyr334insAspLeuValIleCysTyrLysValGlyLysPhe) c.1264_1296dup (p.Phe432_Tyr433insAspLeuValIleCysTyrLysValGlyLysPhe) n.1348_1380dup c.1270_1302dup (p.Phe434_Tyr435insAspLeuValIleCysTyrLysValGlyLysPhe) c.627+3184_627+3216dup (n.627+3184_627+3216dup) c.421_453dup (p.Phe151_Tyr152insAspLeuValIleCysTyrLysValGlyLysPhe) c.874_906dup (p.Phe302_Tyr303insAspLeuValIleCysTyrLysValGlyLysPhe) c.169+8919_169+8951dup (n.169+8919_169+8951dup) c.*124+8718_*124+8750dup (n.*124+8718_*124+8750dup) c.*611_*643dup (n.*611_*643dup) c.358_390dup (p.Phe130_Tyr131insAspLeuValIleCysTyrLysValGlyLysPhe) c.1261_1293dup (p.Phe431_Tyr432insAspLeuValIleCysTyrLysValGlyLysPhe) c.-1833_-1801dup (n.-1833_-1801dup) c.1081_1113dup (p.Phe371_Tyr372insAspLeuValIleCysTyrLysValGlyLysPhe) | ClinVar dbSNP |
| 2 | g.47799246_47799294dup | CA2695200562 | FBXO11,MSH6 | c.966_1014dup (p.Met339Ter) c.1263_1311dup (p.Met438Ter) n.1347_1395dup c.1269_1317dup (p.Met440Ter) c.627+3183_627+3231dup (n.627+3183_627+3231dup) c.420_468dup (p.Met157Ter) c.873_921dup (p.Met308Ter) c.169+8901_169+8949dup (n.169+8901_169+8949dup) c.*124+8700_*124+8748dup (n.*124+8700_*124+8748dup) c.*610_*658dup (n.*610_*658dup) c.357_405dup (p.Met136Ter) c.1260_1308dup (p.Met437Ter) c.-1834_-1786dup (n.-1834_-1786dup) c.1080_1128dup (p.Met377Ter) | ClinVar |
| 2 | g.47799269del | CA2580067555 | FBXO11,MSH6 | c.989del (p.Val330GlyfsTer24) c.1286del (p.Val429GlyfsTer24) n.1370del c.1292del (p.Val431GlyfsTer24) c.627+3206del (n.627+3206del) c.443del (p.Val148GlyfsTer24) c.896del (p.Val299GlyfsTer24) c.169+8926del (n.169+8926del) c.*124+8725del (n.*124+8725del) c.*633del (n.*633del) c.380del (p.Val127GlyfsTer24) c.1283del (p.Val428GlyfsTer24) c.-1811del (n.-1811del) c.1103del (p.Val368GlyfsTer24) | ClinVar |
| 2 | g.47799269T>A | CA346744160 | FBXO11,MSH6 | c.989T>A (p.Val330Glu) c.1286T>A (p.Val429Glu) n.1370T>A c.1292T>A (p.Val431Glu) c.627+3206T>A (n.627+3206T>A) c.443T>A (p.Val148Glu) c.896T>A (p.Val299Glu) c.169+8926A>T (n.169+8926A>T) c.*124+8725A>T (n.*124+8725A>T) c.*633T>A (n.*633T>A) c.380T>A (p.Val127Glu) c.1283T>A (p.Val428Glu) c.-1811T>A (n.-1811T>A) c.1103T>A (p.Val368Glu) | |
| 2 | g.47799269T>C | CA346744161 | FBXO11,MSH6 | c.989T>C (p.Val330Ala) c.1286T>C (p.Val429Ala) n.1370T>C c.1292T>C (p.Val431Ala) c.627+3206T>C (n.627+3206T>C) c.443T>C (p.Val148Ala) c.896T>C (p.Val299Ala) c.169+8926A>G (n.169+8926A>G) c.*124+8725A>G (n.*124+8725A>G) c.*633T>C (n.*633T>C) c.380T>C (p.Val127Ala) c.1283T>C (p.Val428Ala) c.-1811T>C (n.-1811T>C) c.1103T>C (p.Val368Ala) | ClinVar dbSNP |
| 2 | g.47799269T>G | CA346744157 | FBXO11,MSH6 | c.989T>G (p.Val330Gly) c.1286T>G (p.Val429Gly) n.1370T>G c.1292T>G (p.Val431Gly) c.627+3206T>G (n.627+3206T>G) c.443T>G (p.Val148Gly) c.896T>G (p.Val299Gly) c.169+8926A>C (n.169+8926A>C) c.*124+8725A>C (n.*124+8725A>C) c.*633T>G (n.*633T>G) c.380T>G (p.Val127Gly) c.1283T>G (p.Val428Gly) c.-1811T>G (n.-1811T>G) c.1103T>G (p.Val368Gly) | ClinVar dbSNP |
| 2 | g.47799269_47799270delinsTG | CA2496048565 | FBXO11,MSH6 | c.989_990delinsTG (p.Val330=) c.1286_1287delinsTG (p.Val429=) n.1370_1371delinsTG c.1292_1293delinsTG (p.Val431=) c.627+3206_627+3207delinsTG (n.627+3206_627+3207delinsTG) c.443_444delinsTG (p.Val148=) c.896_897delinsTG (p.Val299=) c.169+8925_169+8926delinsCA (n.169+8925_169+8926delinsCA) c.*124+8724_*124+8725delinsCA (n.*124+8724_*124+8725delinsCA) c.*633_*634delinsTG (n.*633_*634delinsTG) c.380_381delinsTG (p.Val127=) c.1283_1284delinsTG (p.Val428=) c.-1811_-1810delinsTG (n.-1811_-1810delinsTG) c.1103_1104delinsTG (p.Val368=) | |
| 2 | g.47799270G>A | CA46707880 | FBXO11,MSH6 | c.990G>A (p.Val330=) c.1287G>A (p.Val429=) n.1371G>A c.1293G>A (p.Val431=) c.627+3207G>A (n.627+3207G>A) c.444G>A (p.Val148=) c.897G>A (p.Val299=) c.169+8925C>T (n.169+8925C>T) c.*124+8724C>T (n.*124+8724C>T) c.*634G>A (n.*634G>A) c.381G>A (p.Val127=) c.1284G>A (p.Val428=) c.-1810G>A (n.-1810G>A) c.1104G>A (p.Val368=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47799270G>C | CA426120893 | FBXO11,MSH6 | c.990G>C (p.Val330=) c.1287G>C (p.Val429=) n.1371G>C c.1293G>C (p.Val431=) c.627+3207G>C (n.627+3207G>C) c.444G>C (p.Val148=) c.897G>C (p.Val299=) c.169+8925C>G (n.169+8925C>G) c.*124+8724C>G (n.*124+8724C>G) c.*634G>C (n.*634G>C) c.381G>C (p.Val127=) c.1284G>C (p.Val428=) c.-1810G>C (n.-1810G>C) c.1104G>C (p.Val368=) | dbSNP |
| 2 | g.47799270G= | CA2496048566 | FBXO11,MSH6 | c.990G= (p.Val330=) c.1287G= (p.Val429=) n.1371G= c.1293G= (p.Val431=) c.627+3207G= (n.627+3207G=) c.444G= (p.Val148=) c.897G= (p.Val299=) c.169+8925C= (n.169+8925C=) c.*124+8724C= (n.*124+8724C=) c.*634G= (n.*634G=) c.381G= (p.Val127=) c.1284G= (p.Val428=) c.-1810G= (n.-1810G=) c.1104G= (p.Val368=) | |
| 2 | g.47799270G>T | CA426120894 | FBXO11,MSH6 | c.990G>T (p.Val330=) c.1287G>T (p.Val429=) n.1371G>T c.1293G>T (p.Val431=) c.627+3207G>T (n.627+3207G>T) c.444G>T (p.Val148=) c.897G>T (p.Val299=) c.169+8925C>A (n.169+8925C>A) c.*124+8724C>A (n.*124+8724C>A) c.*634G>T (n.*634G>T) c.381G>T (p.Val127=) c.1284G>T (p.Val428=) c.-1810G>T (n.-1810G>T) c.1104G>T (p.Val368=) | dbSNP gnomAD v4 |
| 2 | g.47799273del | CA008445 | FBXO11,MSH6 | c.993del (p.Lys332AsnfsTer22) c.1290del (p.Lys431AsnfsTer22) n.1374del c.1296del (p.Lys433AsnfsTer22) c.627+3210del (n.627+3210del) c.447del (p.Lys150AsnfsTer22) c.900del (p.Lys301AsnfsTer22) c.169+8925del (n.169+8925del) c.*124+8724del (n.*124+8724del) c.*637del (n.*637del) c.384del (p.Lys129AsnfsTer22) c.1287del (p.Lys430AsnfsTer22) c.-1807del (n.-1807del) c.1107del (p.Lys370AsnfsTer22) | ClinVar dbSNP |
| 2 | g.47799271G>A | CA008438 | FBXO11,MSH6 | c.991G>A (p.Gly331Arg) c.1288G>A (p.Gly430Arg) n.1372G>A c.1294G>A (p.Gly432Arg) c.627+3208G>A (n.627+3208G>A) c.445G>A (p.Gly149Arg) c.898G>A (p.Gly300Arg) c.169+8924C>T (n.169+8924C>T) c.*124+8723C>T (n.*124+8723C>T) c.*635G>A (n.*635G>A) c.382G>A (p.Gly128Arg) c.1285G>A (p.Gly429Arg) c.-1809G>A (n.-1809G>A) c.1105G>A (p.Gly369Arg) | ClinVar dbSNP |
| 2 | g.47799271G>C | CA346744165 | FBXO11,MSH6 | c.991G>C (p.Gly331Arg) c.1288G>C (p.Gly430Arg) n.1372G>C c.1294G>C (p.Gly432Arg) c.627+3208G>C (n.627+3208G>C) c.445G>C (p.Gly149Arg) c.898G>C (p.Gly300Arg) c.169+8924C>G (n.169+8924C>G) c.*124+8723C>G (n.*124+8723C>G) c.*635G>C (n.*635G>C) c.382G>C (p.Gly128Arg) c.1285G>C (p.Gly429Arg) c.-1809G>C (n.-1809G>C) c.1105G>C (p.Gly369Arg) | dbSNP |
| 2 | g.47799271G= | CA2496048567 | FBXO11,MSH6 | c.991G= (p.Gly331=) c.1288G= (p.Gly430=) n.1372G= c.1294G= (p.Gly432=) c.627+3208G= (n.627+3208G=) c.445G= (p.Gly149=) c.898G= (p.Gly300=) c.169+8924C= (n.169+8924C=) c.*124+8723C= (n.*124+8723C=) c.*635G= (n.*635G=) c.382G= (p.Gly128=) c.1285G= (p.Gly429=) c.-1809G= (n.-1809G=) c.1105G= (p.Gly369=) | |
| 2 | g.47799271G>T | CA16621982 | FBXO11,MSH6 | c.991G>T (p.Gly331Trp) c.1288G>T (p.Gly430Trp) n.1372G>T c.1294G>T (p.Gly432Trp) c.627+3208G>T (n.627+3208G>T) c.445G>T (p.Gly149Trp) c.898G>T (p.Gly300Trp) c.169+8924C>A (n.169+8924C>A) c.*124+8723C>A (n.*124+8723C>A) c.*635G>T (n.*635G>T) c.382G>T (p.Gly128Trp) c.1285G>T (p.Gly429Trp) c.-1809G>T (n.-1809G>T) c.1105G>T (p.Gly369Trp) | gnomAD v4 |
| 2 | g.47799272G>A | CA346744168 | FBXO11,MSH6 | c.992G>A (p.Gly331Glu) c.1289G>A (p.Gly430Glu) n.1373G>A c.1295G>A (p.Gly432Glu) c.627+3209G>A (n.627+3209G>A) c.446G>A (p.Gly149Glu) c.899G>A (p.Gly300Glu) c.169+8923C>T (n.169+8923C>T) c.*124+8722C>T (n.*124+8722C>T) c.*636G>A (n.*636G>A) c.383G>A (p.Gly128Glu) c.1286G>A (p.Gly429Glu) c.-1808G>A (n.-1808G>A) c.1106G>A (p.Gly369Glu) | ClinVar dbSNP |
| 2 | g.47799272G>C | CA346744175 | FBXO11,MSH6 | c.992G>C (p.Gly331Ala) c.1289G>C (p.Gly430Ala) n.1373G>C c.1295G>C (p.Gly432Ala) c.627+3209G>C (n.627+3209G>C) c.446G>C (p.Gly149Ala) c.899G>C (p.Gly300Ala) c.169+8923C>G (n.169+8923C>G) c.*124+8722C>G (n.*124+8722C>G) c.*636G>C (n.*636G>C) c.383G>C (p.Gly128Ala) c.1286G>C (p.Gly429Ala) c.-1808G>C (n.-1808G>C) c.1106G>C (p.Gly369Ala) | dbSNP |
| 2 | g.47799272G= | CA2496048568 | FBXO11,MSH6 | c.992G= (p.Gly331=) c.1289G= (p.Gly430=) n.1373G= c.1295G= (p.Gly432=) c.627+3209G= (n.627+3209G=) c.446G= (p.Gly149=) c.899G= (p.Gly300=) c.169+8923C= (n.169+8923C=) c.*124+8722C= (n.*124+8722C=) c.*636G= (n.*636G=) c.383G= (p.Gly128=) c.1286G= (p.Gly429=) c.-1808G= (n.-1808G=) c.1106G= (p.Gly369=) | |
| 2 | g.47799272G>T | CA346744179 | FBXO11,MSH6 | c.992G>T (p.Gly331Val) c.1289G>T (p.Gly430Val) n.1373G>T c.1295G>T (p.Gly432Val) c.627+3209G>T (n.627+3209G>T) c.446G>T (p.Gly149Val) c.899G>T (p.Gly300Val) c.169+8923C>A (n.169+8923C>A) c.*124+8722C>A (n.*124+8722C>A) c.*636G>T (n.*636G>T) c.383G>T (p.Gly128Val) c.1286G>T (p.Gly429Val) c.-1808G>T (n.-1808G>T) c.1106G>T (p.Gly369Val) | ClinVar dbSNP |
| 2 | g.47799273G>A | CA426120895 | FBXO11,MSH6 | c.993G>A (p.Gly331=) c.1290G>A (p.Gly430=) n.1374G>A c.1296G>A (p.Gly432=) c.627+3210G>A (n.627+3210G>A) c.447G>A (p.Gly149=) c.900G>A (p.Gly300=) c.169+8922C>T (n.169+8922C>T) c.*124+8721C>T (n.*124+8721C>T) c.*637G>A (n.*637G>A) c.384G>A (p.Gly128=) c.1287G>A (p.Gly429=) c.-1807G>A (n.-1807G>A) c.1107G>A (p.Gly369=) | ClinVar dbSNP COSMIC |
| 2 | g.47799273G>C | CA426120896 | FBXO11,MSH6 | c.993G>C (p.Gly331=) c.1290G>C (p.Gly430=) n.1374G>C c.1296G>C (p.Gly432=) c.627+3210G>C (n.627+3210G>C) c.447G>C (p.Gly149=) c.900G>C (p.Gly300=) c.169+8922C>G (n.169+8922C>G) c.*124+8721C>G (n.*124+8721C>G) c.*637G>C (n.*637G>C) c.384G>C (p.Gly128=) c.1287G>C (p.Gly429=) c.-1807G>C (n.-1807G>C) c.1107G>C (p.Gly369=) | dbSNP |
| 2 | g.47799273G= | CA2496048569 | FBXO11,MSH6 | c.993G= (p.Gly331=) c.1290G= (p.Gly430=) n.1374G= c.1296G= (p.Gly432=) c.627+3210G= (n.627+3210G=) c.447G= (p.Gly149=) c.900G= (p.Gly300=) c.169+8922C= (n.169+8922C=) c.*124+8721C= (n.*124+8721C=) c.*637G= (n.*637G=) c.384G= (p.Gly128=) c.1287G= (p.Gly429=) c.-1807G= (n.-1807G=) c.1107G= (p.Gly369=) | |
| 2 | g.47799273G>T | CA426120897 | FBXO11,MSH6 | c.993G>T (p.Gly331=) c.1290G>T (p.Gly430=) n.1374G>T c.1296G>T (p.Gly432=) c.627+3210G>T (n.627+3210G>T) c.447G>T (p.Gly149=) c.900G>T (p.Gly300=) c.169+8922C>A (n.169+8922C>A) c.*124+8721C>A (n.*124+8721C>A) c.*637G>T (n.*637G>T) c.384G>T (p.Gly128=) c.1287G>T (p.Gly429=) c.-1807G>T (n.-1807G>T) c.1107G>T (p.Gly369=) | ClinVar dbSNP |
| 2 | g.47799274A>C | CA346744182 | FBXO11,MSH6 | c.994A>C (p.Lys332Gln) c.1291A>C (p.Lys431Gln) n.1375A>C c.1297A>C (p.Lys433Gln) c.627+3211A>C (n.627+3211A>C) c.448A>C (p.Lys150Gln) c.901A>C (p.Lys301Gln) c.169+8921T>G (n.169+8921T>G) c.*124+8720T>G (n.*124+8720T>G) c.*638A>C (n.*638A>C) c.385A>C (p.Lys129Gln) c.1288A>C (p.Lys430Gln) c.-1806A>C (n.-1806A>C) c.1108A>C (p.Lys370Gln) | |
| 2 | g.47799274A>G | CA346744185 | FBXO11,MSH6 | c.994A>G (p.Lys332Glu) c.1291A>G (p.Lys431Glu) n.1375A>G c.1297A>G (p.Lys433Glu) c.627+3211A>G (n.627+3211A>G) c.448A>G (p.Lys150Glu) c.901A>G (p.Lys301Glu) c.169+8921T>C (n.169+8921T>C) c.*124+8720T>C (n.*124+8720T>C) c.*638A>G (n.*638A>G) c.385A>G (p.Lys129Glu) c.1288A>G (p.Lys430Glu) c.-1806A>G (n.-1806A>G) c.1108A>G (p.Lys370Glu) | ClinVar dbSNP |
| 2 | g.47799274A>T | CA346744188 | FBXO11,MSH6 | c.994A>T (p.Lys332Ter) c.1291A>T (p.Lys431Ter) n.1375A>T c.1297A>T (p.Lys433Ter) c.627+3211A>T (n.627+3211A>T) c.448A>T (p.Lys150Ter) c.901A>T (p.Lys301Ter) c.169+8921T>A (n.169+8921T>A) c.*124+8720T>A (n.*124+8720T>A) c.*638A>T (n.*638A>T) c.385A>T (p.Lys129Ter) c.1288A>T (p.Lys430Ter) c.-1806A>T (n.-1806A>T) c.1108A>T (p.Lys370Ter) | ClinVar dbSNP |
| 2 | g.47799275A= | CA2496048570 | FBXO11,MSH6 | c.995A= (p.Lys332=) c.1292A= (p.Lys431=) n.1376A= c.1298A= (p.Lys433=) c.627+3212A= (n.627+3212A=) c.449A= (p.Lys150=) c.902A= (p.Lys301=) c.169+8920T= (n.169+8920T=) c.*124+8719T= (n.*124+8719T=) c.*639A= (n.*639A=) c.386A= (p.Lys129=) c.1289A= (p.Lys430=) c.-1805A= (n.-1805A=) c.1109A= (p.Lys370=) | |
| 2 | g.47799275A>C | CA346744190 | FBXO11,MSH6 | c.995A>C (p.Lys332Thr) c.1292A>C (p.Lys431Thr) n.1376A>C c.1298A>C (p.Lys433Thr) c.627+3212A>C (n.627+3212A>C) c.449A>C (p.Lys150Thr) c.902A>C (p.Lys301Thr) c.169+8920T>G (n.169+8920T>G) c.*124+8719T>G (n.*124+8719T>G) c.*639A>C (n.*639A>C) c.386A>C (p.Lys129Thr) c.1289A>C (p.Lys430Thr) c.-1805A>C (n.-1805A>C) c.1109A>C (p.Lys370Thr) | ClinVar COSMIC |
| 2 | g.47799275A>G | CA346744194 | FBXO11,MSH6 | c.995A>G (p.Lys332Arg) c.1292A>G (p.Lys431Arg) n.1376A>G c.1298A>G (p.Lys433Arg) c.627+3212A>G (n.627+3212A>G) c.449A>G (p.Lys150Arg) c.902A>G (p.Lys301Arg) c.169+8920T>C (n.169+8920T>C) c.*124+8719T>C (n.*124+8719T>C) c.*639A>G (n.*639A>G) c.386A>G (p.Lys129Arg) c.1289A>G (p.Lys430Arg) c.-1805A>G (n.-1805A>G) c.1109A>G (p.Lys370Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799275A>T | CA346744198 | FBXO11,MSH6 | c.995A>T (p.Lys332Ile) c.1292A>T (p.Lys431Ile) n.1376A>T c.1298A>T (p.Lys433Ile) c.627+3212A>T (n.627+3212A>T) c.449A>T (p.Lys150Ile) c.902A>T (p.Lys301Ile) c.169+8920T>A (n.169+8920T>A) c.*124+8719T>A (n.*124+8719T>A) c.*639A>T (n.*639A>T) c.386A>T (p.Lys129Ile) c.1289A>T (p.Lys430Ile) c.-1805A>T (n.-1805A>T) c.1109A>T (p.Lys370Ile) | dbSNP |
| 2 | g.47799276A= | CA2496048571 | FBXO11,MSH6 | c.996A= (p.Lys332=) c.1293A= (p.Lys431=) n.1377A= c.1299A= (p.Lys433=) c.627+3213A= (n.627+3213A=) c.450A= (p.Lys150=) c.903A= (p.Lys301=) c.169+8919T= (n.169+8919T=) c.*124+8718T= (n.*124+8718T=) c.*640A= (n.*640A=) c.387A= (p.Lys129=) c.1290A= (p.Lys430=) c.-1804A= (n.-1804A=) c.1110A= (p.Lys370=) | |
| 2 | g.47799276A>C | CA346744205 | FBXO11,MSH6 | c.996A>C (p.Lys332Asn) c.1293A>C (p.Lys431Asn) n.1377A>C c.1299A>C (p.Lys433Asn) c.627+3213A>C (n.627+3213A>C) c.450A>C (p.Lys150Asn) c.903A>C (p.Lys301Asn) c.169+8919T>G (n.169+8919T>G) c.*124+8718T>G (n.*124+8718T>G) c.*640A>C (n.*640A>C) c.387A>C (p.Lys129Asn) c.1290A>C (p.Lys430Asn) c.-1804A>C (n.-1804A>C) c.1110A>C (p.Lys370Asn) | ClinVar |
| 2 | g.47799276A>G | CA426120898 | FBXO11,MSH6 | c.996A>G (p.Lys332=) c.1293A>G (p.Lys431=) n.1377A>G c.1299A>G (p.Lys433=) c.627+3213A>G (n.627+3213A>G) c.450A>G (p.Lys150=) c.903A>G (p.Lys301=) c.169+8919T>C (n.169+8919T>C) c.*124+8718T>C (n.*124+8718T>C) c.*640A>G (n.*640A>G) c.387A>G (p.Lys129=) c.1290A>G (p.Lys430=) c.-1804A>G (n.-1804A>G) c.1110A>G (p.Lys370=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47799276A>T | CA346744215 | FBXO11,MSH6 | c.996A>T (p.Lys332Asn) c.1293A>T (p.Lys431Asn) n.1377A>T c.1299A>T (p.Lys433Asn) c.627+3213A>T (n.627+3213A>T) c.450A>T (p.Lys150Asn) c.903A>T (p.Lys301Asn) c.169+8919T>A (n.169+8919T>A) c.*124+8718T>A (n.*124+8718T>A) c.*640A>T (n.*640A>T) c.387A>T (p.Lys129Asn) c.1290A>T (p.Lys430Asn) c.-1804A>T (n.-1804A>T) c.1110A>T (p.Lys370Asn) | |
| 2 | g.47799277T>A | CA346744218 | FBXO11,MSH6 | c.997T>A (p.Phe333Ile) c.1294T>A (p.Phe432Ile) n.1378T>A c.1300T>A (p.Phe434Ile) c.627+3214T>A (n.627+3214T>A) c.451T>A (p.Phe151Ile) c.904T>A (p.Phe302Ile) c.169+8918A>T (n.169+8918A>T) c.*124+8717A>T (n.*124+8717A>T) c.*641T>A (n.*641T>A) c.388T>A (p.Phe130Ile) c.1291T>A (p.Phe431Ile) c.-1803T>A (n.-1803T>A) c.1111T>A (p.Phe371Ile) | dbSNP |
| 2 | g.47799277T>C | CA346744219 | FBXO11,MSH6 | c.997T>C (p.Phe333Leu) c.1294T>C (p.Phe432Leu) n.1378T>C c.1300T>C (p.Phe434Leu) c.627+3214T>C (n.627+3214T>C) c.451T>C (p.Phe151Leu) c.904T>C (p.Phe302Leu) c.169+8918A>G (n.169+8918A>G) c.*124+8717A>G (n.*124+8717A>G) c.*641T>C (n.*641T>C) c.388T>C (p.Phe130Leu) c.1291T>C (p.Phe431Leu) c.-1803T>C (n.-1803T>C) c.1111T>C (p.Phe371Leu) | ClinVar dbSNP |
| 2 | g.47799277T>G | CA346744220 | FBXO11,MSH6 | c.997T>G (p.Phe333Val) c.1294T>G (p.Phe432Val) n.1378T>G c.1300T>G (p.Phe434Val) c.627+3214T>G (n.627+3214T>G) c.451T>G (p.Phe151Val) c.904T>G (p.Phe302Val) c.169+8918A>C (n.169+8918A>C) c.*124+8717A>C (n.*124+8717A>C) c.*641T>G (n.*641T>G) c.388T>G (p.Phe130Val) c.1291T>G (p.Phe431Val) c.-1803T>G (n.-1803T>G) c.1111T>G (p.Phe371Val) | ClinVar dbSNP |
| 2 | g.47799277_47799279delinsTTT | CA2496048572 | FBXO11,MSH6 | c.997_999delinsTTT (p.Phe333=) c.1294_1296delinsTTT (p.Phe432=) n.1378_1380delinsTTT c.1300_1302delinsTTT (p.Phe434=) c.627+3214_627+3216delinsTTT (n.627+3214_627+3216delinsTTT) c.451_453delinsTTT (p.Phe151=) c.904_906delinsTTT (p.Phe302=) c.169+8916_169+8918delinsAAA (n.169+8916_169+8918delinsAAA) c.*124+8715_*124+8717delinsAAA (n.*124+8715_*124+8717delinsAAA) c.*641_*643delinsTTT (n.*641_*643delinsTTT) c.388_390delinsTTT (p.Phe130=) c.1291_1293delinsTTT (p.Phe431=) c.-1803_-1801delinsTTT (n.-1803_-1801delinsTTT) c.1111_1113delinsTTT (p.Phe371=) | |
| 2 | g.47799277_47799278insCCTCAGGCACATAGAGTGTAGATGCA | CA2506404201 | FBXO11,MSH6 | c.997_998insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe333SerfsTer5) c.1294_1295insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe432SerfsTer5) n.1378_1379insCCTCAGGCACATAGAGTGTAGATGCA c.1300_1301insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe434SerfsTer5) c.627+3214_627+3215insCCTCAGGCACATAGAGTGTAGATGCA (n.627+3214_627+3215insCCTCAGGCACATAGAGTGTAGATGCA) c.451_452insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe151SerfsTer5) c.904_905insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe302SerfsTer5) c.169+8917_169+8918insTGCATCTACACTCTATGTGCCTGAGG (n.169+8917_169+8918insTGCATCTACACTCTATGTGCCTGAGG) c.*124+8716_*124+8717insTGCATCTACACTCTATGTGCCTGAGG (n.*124+8716_*124+8717insTGCATCTACACTCTATGTGCCTGAGG) c.*641_*642insCCTCAGGCACATAGAGTGTAGATGCA (n.*641_*642insCCTCAGGCACATAGAGTGTAGATGCA) c.388_389insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe130SerfsTer5) c.1291_1292insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe431SerfsTer5) c.-1803_-1802insCCTCAGGCACATAGAGTGTAGATGCA (n.-1803_-1802insCCTCAGGCACATAGAGTGTAGATGCA) c.1111_1112insCCTCAGGCACATAGAGTGTAGATGCA (p.Phe371SerfsTer5) | |
| 2 | g.47799278T>A | CA346744225 | FBXO11,MSH6 | c.998T>A (p.Phe333Tyr) c.1295T>A (p.Phe432Tyr) n.1379T>A c.1301T>A (p.Phe434Tyr) c.627+3215T>A (n.627+3215T>A) c.452T>A (p.Phe151Tyr) c.905T>A (p.Phe302Tyr) c.169+8917A>T (n.169+8917A>T) c.*124+8716A>T (n.*124+8716A>T) c.*642T>A (n.*642T>A) c.389T>A (p.Phe130Tyr) c.1292T>A (p.Phe431Tyr) c.-1802T>A (n.-1802T>A) c.1112T>A (p.Phe371Tyr) | ClinVar dbSNP |
| 2 | g.47799278T>C | CA008453 | FBXO11,MSH6 | c.998T>C (p.Phe333Ser) c.1295T>C (p.Phe432Ser) n.1379T>C c.1301T>C (p.Phe434Ser) c.627+3215T>C (n.627+3215T>C) c.452T>C (p.Phe151Ser) c.905T>C (p.Phe302Ser) c.169+8917A>G (n.169+8917A>G) c.*124+8716A>G (n.*124+8716A>G) c.*642T>C (n.*642T>C) c.389T>C (p.Phe130Ser) c.1292T>C (p.Phe431Ser) c.-1802T>C (n.-1802T>C) c.1112T>C (p.Phe371Ser) | ClinVar dbSNP |
| 2 | g.47799278T>G | CA067459 | FBXO11,MSH6 | c.998T>G (p.Phe333Cys) c.1295T>G (p.Phe432Cys) n.1379T>G c.1301T>G (p.Phe434Cys) c.627+3215T>G (n.627+3215T>G) c.452T>G (p.Phe151Cys) c.905T>G (p.Phe302Cys) c.169+8917A>C (n.169+8917A>C) c.*124+8716A>C (n.*124+8716A>C) c.*642T>G (n.*642T>G) c.389T>G (p.Phe130Cys) c.1292T>G (p.Phe431Cys) c.-1802T>G (n.-1802T>G) c.1112T>G (p.Phe371Cys) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.47799278T= | CA2496048573 | FBXO11,MSH6 | c.998T= (p.Phe333=) c.1295T= (p.Phe432=) n.1379T= c.1301T= (p.Phe434=) c.627+3215T= (n.627+3215T=) c.452T= (p.Phe151=) c.905T= (p.Phe302=) c.169+8917A= (n.169+8917A=) c.*124+8716A= (n.*124+8716A=) c.*642T= (n.*642T=) c.389T= (p.Phe130=) c.1292T= (p.Phe431=) c.-1802T= (n.-1802T=) c.1112T= (p.Phe371=) | |
| 2 | g.47799278_47799279delinsGCA | CA46707885 | FBXO11,MSH6 | c.998_999delinsGCA (p.Phe333CysfsTer3) c.1295_1296delinsGCA (p.Phe432CysfsTer3) n.1379_1380delinsGCA c.1301_1302delinsGCA (p.Phe434CysfsTer3) c.627+3215_627+3216delinsGCA (n.627+3215_627+3216delinsGCA) c.452_453delinsGCA (p.Phe151CysfsTer3) c.905_906delinsGCA (p.Phe302CysfsTer3) c.169+8916_169+8917delinsTGC (n.169+8916_169+8917delinsTGC) c.*124+8715_*124+8716delinsTGC (n.*124+8715_*124+8716delinsTGC) c.*642_*643delinsGCA (n.*642_*643delinsGCA) c.389_390delinsGCA (p.Phe130CysfsTer3) c.1292_1293delinsGCA (p.Phe431CysfsTer3) c.-1802_-1801delinsGCA (n.-1802_-1801delinsGCA) c.1112_1113delinsGCA (p.Phe371CysfsTer3) | dbSNP |
| 2 | g.47799278_47799279insAA | CA16611128 | FBXO11,MSH6 | c.998_999insAA (p.Phe333LeufsTer22) c.1295_1296insAA (p.Phe432LeufsTer22) n.1379_1380insAA c.1301_1302insAA (p.Phe434LeufsTer22) c.627+3215_627+3216insAA (n.627+3215_627+3216insAA) c.452_453insAA (p.Phe151LeufsTer22) c.905_906insAA (p.Phe302LeufsTer22) c.169+8916_169+8917insTT (n.169+8916_169+8917insTT) c.*124+8715_*124+8716insTT (n.*124+8715_*124+8716insTT) c.*642_*643insAA (n.*642_*643insAA) c.389_390insAA (p.Phe130LeufsTer22) c.1292_1293insAA (p.Phe431LeufsTer22) c.-1802_-1801insAA (n.-1802_-1801insAA) c.1112_1113insAA (p.Phe371LeufsTer22) | ClinVar dbSNP |
| 2 | g.47799279T>A | CA346744228 | FBXO11,MSH6 | c.999T>A (p.Phe333Leu) c.1296T>A (p.Phe432Leu) n.1380T>A c.1302T>A (p.Phe434Leu) c.627+3216T>A (n.627+3216T>A) c.453T>A (p.Phe151Leu) c.906T>A (p.Phe302Leu) c.169+8916A>T (n.169+8916A>T) c.*124+8715A>T (n.*124+8715A>T) c.*643T>A (n.*643T>A) c.390T>A (p.Phe130Leu) c.1293T>A (p.Phe431Leu) c.-1801T>A (n.-1801T>A) c.1113T>A (p.Phe371Leu) | dbSNP |
| 2 | g.47799279T>C | CA426120899 | FBXO11,MSH6 | c.999T>C (p.Phe333=) c.1296T>C (p.Phe432=) n.1380T>C c.1302T>C (p.Phe434=) c.627+3216T>C (n.627+3216T>C) c.453T>C (p.Phe151=) c.906T>C (p.Phe302=) c.169+8916A>G (n.169+8916A>G) c.*124+8715A>G (n.*124+8715A>G) c.*643T>C (n.*643T>C) c.390T>C (p.Phe130=) c.1293T>C (p.Phe431=) c.-1801T>C (n.-1801T>C) c.1113T>C (p.Phe371=) | |
| 2 | g.47799279T>G | CA337394 | FBXO11,MSH6 | c.999T>G (p.Phe333Leu) c.1296T>G (p.Phe432Leu) n.1380T>G c.1302T>G (p.Phe434Leu) c.627+3216T>G (n.627+3216T>G) c.453T>G (p.Phe151Leu) c.906T>G (p.Phe302Leu) c.169+8916A>C (n.169+8916A>C) c.*124+8715A>C (n.*124+8715A>C) c.*643T>G (n.*643T>G) c.390T>G (p.Phe130Leu) c.1293T>G (p.Phe431Leu) c.-1801T>G (n.-1801T>G) c.1113T>G (p.Phe371Leu) | ClinVar dbSNP |