UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.47799557_47804482dup | CA10575504 | FBXO11,MSH6 | c.1277_3142-428dup c.1574_3173-1136dup n.1658_3523-428dup c.1574_1873-428dup c.1580_3445-428dup c.627+3494_894-428dup c.731_2330-1136dup c.1574_3439-428dup c.1184_3049-428dup c.169+3714_169+8639dup (n.169+3714_169+8639dup) c.*124+3513_*124+8438dup (n.*124+3513_*124+8438dup) c.*921_*2786-428dup c.668_2533-428dup c.-1523_335-420dup c.1391_3256-428dup | ClinVar |
| 2 | g.47799740_47800212dup | CA2580067691 | FBXO11,MSH6 | c.1460_1932dup (p.Glu645TrpfsTer24) c.1757_2229dup (p.Glu744TrpfsTer24) n.1841_2313dup c.1606+151_1606+623dup (n.1606+151_1606+623dup) c.1763_2235dup (p.Glu746TrpfsTer24) c.627+3677_628-3208dup (n.627+3677_628-3208dup) c.914_1386dup (p.Glu463TrpfsTer24) c.1367_1839dup (p.Glu614TrpfsTer24) c.169+7984_169+8456dup (n.169+7984_169+8456dup) c.*124+7783_*124+8255dup (n.*124+7783_*124+8255dup) c.*1104_*1576dup (n.*1104_*1576dup) c.851_1323dup (p.Glu442TrpfsTer24) c.1754_2226dup (p.Glu743TrpfsTer24) c.-1340_-868dup (n.-1340_-868dup) c.1574_2046dup (p.Glu683TrpfsTer24) | ClinVar |
| 2 | g.47799955_47804552del | CA1139655753 | FBXO11,MSH6 | c.1675_3142-358del c.1972_3173-1066del n.2056_3523-358del c.1606+366_1873-358del c.1978_3445-358del c.628-3465_894-358del c.1129_2330-1066del c.1972_3439-358del c.1582_3049-358del c.169+3644_169+8241del (n.169+3644_169+8241del) c.*124+3443_*124+8040del (n.*124+3443_*124+8040del) c.*1319_*2786-358del c.1066_2533-358del c.-1125_335-350del c.1789_3256-358del | ClinVar |
| 2 | g.47799962_47799963delinsG | CA2580067741 | FBXO11,MSH6 | c.1682_1683delinsG (p.Lys561ArgfsTer3) c.1979_1980delinsG (p.Lys660ArgfsTer3) n.2063_2064delinsG c.1606+373_1606+374delinsG (n.1606+373_1606+374delinsG) c.1985_1986delinsG (p.Lys662ArgfsTer3) c.628-3458_628-3457delinsG (n.628-3458_628-3457delinsG) c.1136_1137delinsG (p.Lys379ArgfsTer3) c.1589_1590delinsG (p.Lys530ArgfsTer3) c.169+8232_169+8233delinsC (n.169+8232_169+8233delinsC) c.*124+8031_*124+8032delinsC (n.*124+8031_*124+8032delinsC) c.*1326_*1327delinsG (n.*1326_*1327delinsG) c.1073_1074delinsG (p.Lys358ArgfsTer3) c.1976_1977delinsG (p.Lys659ArgfsTer3) c.-1118_-1117delinsG (n.-1118_-1117delinsG) c.1796_1797delinsG (p.Lys599ArgfsTer3) | ClinVar |
| 2 | g.47799962_47799965del | CA2580067742 | FBXO11,MSH6 | c.1682_1685del (p.Lys561IlefsTer2) c.1979_1982del (p.Lys660IlefsTer2) n.2063_2066del c.1606+373_1606+376del (n.1606+373_1606+376del) c.1985_1988del (p.Lys662IlefsTer2) c.628-3458_628-3455del (n.628-3458_628-3455del) c.1136_1139del (p.Lys379IlefsTer2) c.1589_1592del (p.Lys530IlefsTer2) c.169+8230_169+8233del (n.169+8230_169+8233del) c.*124+8029_*124+8032del (n.*124+8029_*124+8032del) c.*1326_*1329del (n.*1326_*1329del) c.1073_1076del (p.Lys358IlefsTer2) c.1976_1979del (p.Lys659IlefsTer2) c.-1118_-1115del (n.-1118_-1115del) c.1796_1799del (p.Lys599IlefsTer2) | ClinVar |
| 2 | g.47799963A>C | CA346750624 | FBXO11,MSH6 | c.1683A>C (p.Lys561Asn) c.1980A>C (p.Lys660Asn) n.2064A>C c.1606+374A>C (n.1606+374A>C) c.1986A>C (p.Lys662Asn) c.628-3457A>C (n.628-3457A>C) c.1137A>C (p.Lys379Asn) c.1590A>C (p.Lys530Asn) c.169+8232T>G (n.169+8232T>G) c.*124+8031T>G (n.*124+8031T>G) c.*1327A>C (n.*1327A>C) c.1074A>C (p.Lys358Asn) c.1977A>C (p.Lys659Asn) c.-1117A>C (n.-1117A>C) c.1797A>C (p.Lys599Asn) | |
| 2 | g.47799963A>G | CA426121271 | FBXO11,MSH6 | c.1683A>G (p.Lys561=) c.1980A>G (p.Lys660=) n.2064A>G c.1606+374A>G (n.1606+374A>G) c.1986A>G (p.Lys662=) c.628-3457A>G (n.628-3457A>G) c.1137A>G (p.Lys379=) c.1590A>G (p.Lys530=) c.169+8232T>C (n.169+8232T>C) c.*124+8031T>C (n.*124+8031T>C) c.*1327A>G (n.*1327A>G) c.1074A>G (p.Lys358=) c.1977A>G (p.Lys659=) c.-1117A>G (n.-1117A>G) c.1797A>G (p.Lys599=) | |
| 2 | g.47799963A>T | CA346750623 | FBXO11,MSH6 | c.1683A>T (p.Lys561Asn) c.1980A>T (p.Lys660Asn) n.2064A>T c.1606+374A>T (n.1606+374A>T) c.1986A>T (p.Lys662Asn) c.628-3457A>T (n.628-3457A>T) c.1137A>T (p.Lys379Asn) c.1590A>T (p.Lys530Asn) c.169+8232T>A (n.169+8232T>A) c.*124+8031T>A (n.*124+8031T>A) c.*1327A>T (n.*1327A>T) c.1074A>T (p.Lys358Asn) c.1977A>T (p.Lys659Asn) c.-1117A>T (n.-1117A>T) c.1797A>T (p.Lys599Asn) | |
| 2 | g.47799964G>A | CA346750625 | FBXO11,MSH6 | c.1684G>A (p.Gly562Ser) c.1981G>A (p.Gly661Ser) n.2065G>A c.1606+375G>A (n.1606+375G>A) c.1987G>A (p.Gly663Ser) c.628-3456G>A (n.628-3456G>A) c.1138G>A (p.Gly380Ser) c.1591G>A (p.Gly531Ser) c.169+8231C>T (n.169+8231C>T) c.*124+8030C>T (n.*124+8030C>T) c.*1328G>A (n.*1328G>A) c.1075G>A (p.Gly359Ser) c.1978G>A (p.Gly660Ser) c.-1116G>A (n.-1116G>A) c.1798G>A (p.Gly600Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799964G>C | CA346750626 | FBXO11,MSH6 | c.1684G>C (p.Gly562Arg) c.1981G>C (p.Gly661Arg) n.2065G>C c.1606+375G>C (n.1606+375G>C) c.1987G>C (p.Gly663Arg) c.628-3456G>C (n.628-3456G>C) c.1138G>C (p.Gly380Arg) c.1591G>C (p.Gly531Arg) c.169+8231C>G (n.169+8231C>G) c.*124+8030C>G (n.*124+8030C>G) c.*1328G>C (n.*1328G>C) c.1075G>C (p.Gly359Arg) c.1978G>C (p.Gly660Arg) c.-1116G>C (n.-1116G>C) c.1798G>C (p.Gly600Arg) | dbSNP |
| 2 | g.47799964G= | CA2496049159 | FBXO11,MSH6 | c.1684G= (p.Gly562=) c.1981G= (p.Gly661=) n.2065G= c.1606+375G= (n.1606+375G=) c.1987G= (p.Gly663=) c.628-3456G= (n.628-3456G=) c.1138G= (p.Gly380=) c.1591G= (p.Gly531=) c.169+8231C= (n.169+8231C=) c.*124+8030C= (n.*124+8030C=) c.*1328G= (n.*1328G=) c.1075G= (p.Gly359=) c.1978G= (p.Gly660=) c.-1116G= (n.-1116G=) c.1798G= (p.Gly600=) | |
| 2 | g.47799964G>T | CA346750627 | FBXO11,MSH6 | c.1684G>T (p.Gly562Cys) c.1981G>T (p.Gly661Cys) n.2065G>T c.1606+375G>T (n.1606+375G>T) c.1987G>T (p.Gly663Cys) c.628-3456G>T (n.628-3456G>T) c.1138G>T (p.Gly380Cys) c.1591G>T (p.Gly531Cys) c.169+8231C>A (n.169+8231C>A) c.*124+8030C>A (n.*124+8030C>A) c.*1328G>T (n.*1328G>T) c.1075G>T (p.Gly359Cys) c.1978G>T (p.Gly660Cys) c.-1116G>T (n.-1116G>T) c.1798G>T (p.Gly600Cys) | |
| 2 | g.47799965del | CA2499216111 | FBXO11,MSH6 | c.1685del (p.Gly562ValfsTer2) c.1982del (p.Gly661ValfsTer2) n.2066del c.1606+376del (n.1606+376del) c.1988del (p.Gly663ValfsTer2) c.628-3455del (n.628-3455del) c.1139del (p.Gly380ValfsTer2) c.1592del (p.Gly531ValfsTer2) c.169+8231del (n.169+8231del) c.*124+8030del (n.*124+8030del) c.*1329del (n.*1329del) c.1076del (p.Gly359ValfsTer2) c.1979del (p.Gly660ValfsTer2) c.-1115del (n.-1115del) c.1799del (p.Gly600ValfsTer2) | ClinVar dbSNP |
| 2 | g.47799965G>A | CA346750628 | FBXO11,MSH6 | c.1685G>A (p.Gly562Asp) c.1982G>A (p.Gly661Asp) n.2066G>A c.1606+376G>A (n.1606+376G>A) c.1988G>A (p.Gly663Asp) c.628-3455G>A (n.628-3455G>A) c.1139G>A (p.Gly380Asp) c.1592G>A (p.Gly531Asp) c.169+8230C>T (n.169+8230C>T) c.*124+8029C>T (n.*124+8029C>T) c.*1329G>A (n.*1329G>A) c.1076G>A (p.Gly359Asp) c.1979G>A (p.Gly660Asp) c.-1115G>A (n.-1115G>A) c.1799G>A (p.Gly600Asp) | ClinVar dbSNP |
| 2 | g.47799965G>C | CA346750629 | FBXO11,MSH6 | c.1685G>C (p.Gly562Ala) c.1982G>C (p.Gly661Ala) n.2066G>C c.1606+376G>C (n.1606+376G>C) c.1988G>C (p.Gly663Ala) c.628-3455G>C (n.628-3455G>C) c.1139G>C (p.Gly380Ala) c.1592G>C (p.Gly531Ala) c.169+8230C>G (n.169+8230C>G) c.*124+8029C>G (n.*124+8029C>G) c.*1329G>C (n.*1329G>C) c.1076G>C (p.Gly359Ala) c.1979G>C (p.Gly660Ala) c.-1115G>C (n.-1115G>C) c.1799G>C (p.Gly600Ala) | dbSNP |
| 2 | g.47799965G= | CA2496049160 | FBXO11,MSH6 | c.1685G= (p.Gly562=) c.1982G= (p.Gly661=) n.2066G= c.1606+376G= (n.1606+376G=) c.1988G= (p.Gly663=) c.628-3455G= (n.628-3455G=) c.1139G= (p.Gly380=) c.1592G= (p.Gly531=) c.169+8230C= (n.169+8230C=) c.*124+8029C= (n.*124+8029C=) c.*1329G= (n.*1329G=) c.1076G= (p.Gly359=) c.1979G= (p.Gly660=) c.-1115G= (n.-1115G=) c.1799G= (p.Gly600=) | |
| 2 | g.47799965G>T | CA346750630 | FBXO11,MSH6 | c.1685G>T (p.Gly562Val) c.1982G>T (p.Gly661Val) n.2066G>T c.1606+376G>T (n.1606+376G>T) c.1988G>T (p.Gly663Val) c.628-3455G>T (n.628-3455G>T) c.1139G>T (p.Gly380Val) c.1592G>T (p.Gly531Val) c.169+8230C>A (n.169+8230C>A) c.*124+8029C>A (n.*124+8029C>A) c.*1329G>T (n.*1329G>T) c.1076G>T (p.Gly359Val) c.1979G>T (p.Gly660Val) c.-1115G>T (n.-1115G>T) c.1799G>T (p.Gly600Val) | dbSNP |
| 2 | g.47799966T>A | CA426121274 | FBXO11,MSH6 | c.1686T>A (p.Gly562=) c.1983T>A (p.Gly661=) n.2067T>A c.1606+377T>A (n.1606+377T>A) c.1989T>A (p.Gly663=) c.628-3454T>A (n.628-3454T>A) c.1140T>A (p.Gly380=) c.1593T>A (p.Gly531=) c.169+8229A>T (n.169+8229A>T) c.*124+8028A>T (n.*124+8028A>T) c.*1330T>A (n.*1330T>A) c.1077T>A (p.Gly359=) c.1980T>A (p.Gly660=) c.-1114T>A (n.-1114T>A) c.1800T>A (p.Gly600=) | |
| 2 | g.47799966T>C | CA426121275 | FBXO11,MSH6 | c.1686T>C (p.Gly562=) c.1983T>C (p.Gly661=) n.2067T>C c.1606+377T>C (n.1606+377T>C) c.1989T>C (p.Gly663=) c.628-3454T>C (n.628-3454T>C) c.1140T>C (p.Gly380=) c.1593T>C (p.Gly531=) c.169+8229A>G (n.169+8229A>G) c.*124+8028A>G (n.*124+8028A>G) c.*1330T>C (n.*1330T>C) c.1077T>C (p.Gly359=) c.1980T>C (p.Gly660=) c.-1114T>C (n.-1114T>C) c.1800T>C (p.Gly600=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47799966T>G | CA426121276 | FBXO11,MSH6 | c.1686T>G (p.Gly562=) c.1983T>G (p.Gly661=) n.2067T>G c.1606+377T>G (n.1606+377T>G) c.1989T>G (p.Gly663=) c.628-3454T>G (n.628-3454T>G) c.1140T>G (p.Gly380=) c.1593T>G (p.Gly531=) c.169+8229A>C (n.169+8229A>C) c.*124+8028A>C (n.*124+8028A>C) c.*1330T>G (n.*1330T>G) c.1077T>G (p.Gly359=) c.1980T>G (p.Gly660=) c.-1114T>G (n.-1114T>G) c.1800T>G (p.Gly600=) | dbSNP |
| 2 | g.47799966T= | CA2496049161 | FBXO11,MSH6 | c.1686T= (p.Gly562=) c.1983T= (p.Gly661=) n.2067T= c.1606+377T= (n.1606+377T=) c.1989T= (p.Gly663=) c.628-3454T= (n.628-3454T=) c.1140T= (p.Gly380=) c.1593T= (p.Gly531=) c.169+8229A= (n.169+8229A=) c.*124+8028A= (n.*124+8028A=) c.*1330T= (n.*1330T=) c.1077T= (p.Gly359=) c.1980T= (p.Gly660=) c.-1114T= (n.-1114T=) c.1800T= (p.Gly600=) | |
| 2 | g.47799966_47799967delinsTA | CA2496049162 | FBXO11,MSH6 | c.1686_1687delinsTA (p.Gly562=) c.1983_1984delinsTA (p.Gly661=) n.2067_2068delinsTA c.1606+377_1606+378delinsTA (n.1606+377_1606+378delinsTA) c.1989_1990delinsTA (p.Gly663=) c.628-3454_628-3453delinsTA (n.628-3454_628-3453delinsTA) c.1140_1141delinsTA (p.Gly380=) c.1593_1594delinsTA (p.Gly531=) c.169+8228_169+8229delinsTA (n.169+8228_169+8229delinsTA) c.*124+8027_*124+8028delinsTA (n.*124+8027_*124+8028delinsTA) c.*1330_*1331delinsTA (n.*1330_*1331delinsTA) c.1077_1078delinsTA (p.Gly359=) c.1980_1981delinsTA (p.Gly660=) c.-1114_-1113delinsTA (n.-1114_-1113delinsTA) c.1800_1801delinsTA (p.Gly600=) | |
| 2 | g.47799967del | CA658655797 | FBXO11,MSH6 | c.1687del (p.Met563Ter) c.1984del (p.Met662Ter) n.2068del c.1606+378del (n.1606+378del) c.1990del (p.Met664Ter) c.628-3453del (n.628-3453del) c.1141del (p.Met381Ter) c.1594del (p.Met532Ter) c.169+8228del (n.169+8228del) c.*124+8027del (n.*124+8027del) c.*1331del (n.*1331del) c.1078del (p.Met360Ter) c.1981del (p.Met661Ter) c.-1113del (n.-1113del) c.1801del (p.Met601Ter) | ClinVar dbSNP |
| 2 | g.47799967A= | CA2496049163 | FBXO11,MSH6 | c.1687A= (p.Met563=) c.1984A= (p.Met662=) n.2068A= c.1606+378A= (n.1606+378A=) c.1990A= (p.Met664=) c.628-3453A= (n.628-3453A=) c.1141A= (p.Met381=) c.1594A= (p.Met532=) c.169+8228T= (n.169+8228T=) c.*124+8027T= (n.*124+8027T=) c.*1331A= (n.*1331A=) c.1078A= (p.Met360=) c.1981A= (p.Met661=) c.-1113A= (n.-1113A=) c.1801A= (p.Met601=) | |
| 2 | g.47799967A>C | CA346750631 | FBXO11,MSH6 | c.1687A>C (p.Met563Leu) c.1984A>C (p.Met662Leu) n.2068A>C c.1606+378A>C (n.1606+378A>C) c.1990A>C (p.Met664Leu) c.628-3453A>C (n.628-3453A>C) c.1141A>C (p.Met381Leu) c.1594A>C (p.Met532Leu) c.169+8228T>G (n.169+8228T>G) c.*124+8027T>G (n.*124+8027T>G) c.*1331A>C (n.*1331A>C) c.1078A>C (p.Met360Leu) c.1981A>C (p.Met661Leu) c.-1113A>C (n.-1113A>C) c.1801A>C (p.Met601Leu) | dbSNP |
| 2 | g.47799967A>G | CA16610994 | FBXO11,MSH6 | c.1687A>G (p.Met563Val) c.1984A>G (p.Met662Val) n.2068A>G c.1606+378A>G (n.1606+378A>G) c.1990A>G (p.Met664Val) c.628-3453A>G (n.628-3453A>G) c.1141A>G (p.Met381Val) c.1594A>G (p.Met532Val) c.169+8228T>C (n.169+8228T>C) c.*124+8027T>C (n.*124+8027T>C) c.*1331A>G (n.*1331A>G) c.1078A>G (p.Met360Val) c.1981A>G (p.Met661Val) c.-1113A>G (n.-1113A>G) c.1801A>G (p.Met601Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799967A>T | CA346750632 | FBXO11,MSH6 | c.1687A>T (p.Met563Leu) c.1984A>T (p.Met662Leu) n.2068A>T c.1606+378A>T (n.1606+378A>T) c.1990A>T (p.Met664Leu) c.628-3453A>T (n.628-3453A>T) c.1141A>T (p.Met381Leu) c.1594A>T (p.Met532Leu) c.169+8228T>A (n.169+8228T>A) c.*124+8027T>A (n.*124+8027T>A) c.*1331A>T (n.*1331A>T) c.1078A>T (p.Met360Leu) c.1981A>T (p.Met661Leu) c.-1113A>T (n.-1113A>T) c.1801A>T (p.Met601Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799968_47799970dup | CA913188036 | FBXO11,MSH6 | c.1688_1690dup (p.Met563_Thr564insMet) c.1985_1987dup (p.Met662_Thr663insMet) n.2069_2071dup c.1606+379_1606+381dup (n.1606+379_1606+381dup) c.1991_1993dup (p.Met664_Thr665insMet) c.628-3452_628-3450dup (n.628-3452_628-3450dup) c.1142_1144dup (p.Met381_Thr382insMet) c.1595_1597dup (p.Met532_Thr533insMet) c.169+8226_169+8228dup (n.169+8226_169+8228dup) c.*124+8025_*124+8027dup (n.*124+8025_*124+8027dup) c.*1332_*1334dup (n.*1332_*1334dup) c.1079_1081dup (p.Met360_Thr361insMet) c.1982_1984dup (p.Met661_Thr662insMet) c.-1112_-1110dup (n.-1112_-1110dup) c.1802_1804dup (p.Met601_Thr602insMet) | ClinVar dbSNP |
| 2 | g.47799968T>A | CA346750633 | FBXO11,MSH6 | c.1688T>A (p.Met563Lys) c.1985T>A (p.Met662Lys) n.2069T>A c.1606+379T>A (n.1606+379T>A) c.1991T>A (p.Met664Lys) c.628-3452T>A (n.628-3452T>A) c.1142T>A (p.Met381Lys) c.1595T>A (p.Met532Lys) c.169+8227A>T (n.169+8227A>T) c.*124+8026A>T (n.*124+8026A>T) c.*1332T>A (n.*1332T>A) c.1079T>A (p.Met360Lys) c.1982T>A (p.Met661Lys) c.-1112T>A (n.-1112T>A) c.1802T>A (p.Met601Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47799968T>C | CA346750634 | FBXO11,MSH6 | c.1688T>C (p.Met563Thr) c.1985T>C (p.Met662Thr) n.2069T>C c.1606+379T>C (n.1606+379T>C) c.1991T>C (p.Met664Thr) c.628-3452T>C (n.628-3452T>C) c.1142T>C (p.Met381Thr) c.1595T>C (p.Met532Thr) c.169+8227A>G (n.169+8227A>G) c.*124+8026A>G (n.*124+8026A>G) c.*1332T>C (n.*1332T>C) c.1079T>C (p.Met360Thr) c.1982T>C (p.Met661Thr) c.-1112T>C (n.-1112T>C) c.1802T>C (p.Met601Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799968T>G | CA346750635 | FBXO11,MSH6 | c.1688T>G (p.Met563Arg) c.1985T>G (p.Met662Arg) n.2069T>G c.1606+379T>G (n.1606+379T>G) c.1991T>G (p.Met664Arg) c.628-3452T>G (n.628-3452T>G) c.1142T>G (p.Met381Arg) c.1595T>G (p.Met532Arg) c.169+8227A>C (n.169+8227A>C) c.*124+8026A>C (n.*124+8026A>C) c.*1332T>G (n.*1332T>G) c.1079T>G (p.Met360Arg) c.1982T>G (p.Met661Arg) c.-1112T>G (n.-1112T>G) c.1802T>G (p.Met601Arg) | ClinVar |
| 2 | g.47799968T= | CA2496049164 | FBXO11,MSH6 | c.1688T= (p.Met563=) c.1985T= (p.Met662=) n.2069T= c.1606+379T= (n.1606+379T=) c.1991T= (p.Met664=) c.628-3452T= (n.628-3452T=) c.1142T= (p.Met381=) c.1595T= (p.Met532=) c.169+8227A= (n.169+8227A=) c.*124+8026A= (n.*124+8026A=) c.*1332T= (n.*1332T=) c.1079T= (p.Met360=) c.1982T= (p.Met661=) c.-1112T= (n.-1112T=) c.1802T= (p.Met601=) | |
| 2 | g.47799969G>A | CA346750638 | FBXO11,MSH6 | c.1689G>A (p.Met563Ile) c.1986G>A (p.Met662Ile) n.2070G>A c.1606+380G>A (n.1606+380G>A) c.1992G>A (p.Met664Ile) c.628-3451G>A (n.628-3451G>A) c.1143G>A (p.Met381Ile) c.1596G>A (p.Met532Ile) c.169+8226C>T (n.169+8226C>T) c.*124+8025C>T (n.*124+8025C>T) c.*1333G>A (n.*1333G>A) c.1080G>A (p.Met360Ile) c.1983G>A (p.Met661Ile) c.-1111G>A (n.-1111G>A) c.1803G>A (p.Met601Ile) | ClinVar dbSNP |
| 2 | g.47799969G>C | CA346750637 | FBXO11,MSH6 | c.1689G>C (p.Met563Ile) c.1986G>C (p.Met662Ile) n.2070G>C c.1606+380G>C (n.1606+380G>C) c.1992G>C (p.Met664Ile) c.628-3451G>C (n.628-3451G>C) c.1143G>C (p.Met381Ile) c.1596G>C (p.Met532Ile) c.169+8226C>G (n.169+8226C>G) c.*124+8025C>G (n.*124+8025C>G) c.*1333G>C (n.*1333G>C) c.1080G>C (p.Met360Ile) c.1983G>C (p.Met661Ile) c.-1111G>C (n.-1111G>C) c.1803G>C (p.Met601Ile) | |
| 2 | g.47799969G= | CA2496049165 | FBXO11,MSH6 | c.1689G= (p.Met563=) c.1986G= (p.Met662=) n.2070G= c.1606+380G= (n.1606+380G=) c.1992G= (p.Met664=) c.628-3451G= (n.628-3451G=) c.1143G= (p.Met381=) c.1596G= (p.Met532=) c.169+8226C= (n.169+8226C=) c.*124+8025C= (n.*124+8025C=) c.*1333G= (n.*1333G=) c.1080G= (p.Met360=) c.1983G= (p.Met661=) c.-1111G= (n.-1111G=) c.1803G= (p.Met601=) | |
| 2 | g.47799969G>T | CA346750636 | FBXO11,MSH6 | c.1689G>T (p.Met563Ile) c.1986G>T (p.Met662Ile) n.2070G>T c.1606+380G>T (n.1606+380G>T) c.1992G>T (p.Met664Ile) c.628-3451G>T (n.628-3451G>T) c.1143G>T (p.Met381Ile) c.1596G>T (p.Met532Ile) c.169+8226C>A (n.169+8226C>A) c.*124+8025C>A (n.*124+8025C>A) c.*1333G>T (n.*1333G>T) c.1080G>T (p.Met360Ile) c.1983G>T (p.Met661Ile) c.-1111G>T (n.-1111G>T) c.1803G>T (p.Met601Ile) | dbSNP |
| 2 | g.47799970A>C | CA346750639 | FBXO11,MSH6 | c.1690A>C (p.Thr564Pro) c.1987A>C (p.Thr663Pro) n.2071A>C c.1606+381A>C (n.1606+381A>C) c.1993A>C (p.Thr665Pro) c.628-3450A>C (n.628-3450A>C) c.1144A>C (p.Thr382Pro) c.1597A>C (p.Thr533Pro) c.169+8225T>G (n.169+8225T>G) c.*124+8024T>G (n.*124+8024T>G) c.*1334A>C (n.*1334A>C) c.1081A>C (p.Thr361Pro) c.1984A>C (p.Thr662Pro) c.-1110A>C (n.-1110A>C) c.1804A>C (p.Thr602Pro) | ClinVar dbSNP |
| 2 | g.47799970A>G | CA346750640 | FBXO11,MSH6 | c.1690A>G (p.Thr564Ala) c.1987A>G (p.Thr663Ala) n.2071A>G c.1606+381A>G (n.1606+381A>G) c.1993A>G (p.Thr665Ala) c.628-3450A>G (n.628-3450A>G) c.1144A>G (p.Thr382Ala) c.1597A>G (p.Thr533Ala) c.169+8225T>C (n.169+8225T>C) c.*124+8024T>C (n.*124+8024T>C) c.*1334A>G (n.*1334A>G) c.1081A>G (p.Thr361Ala) c.1984A>G (p.Thr662Ala) c.-1110A>G (n.-1110A>G) c.1804A>G (p.Thr602Ala) | dbSNP |
| 2 | g.47799970A>T | CA346750641 | FBXO11,MSH6 | c.1690A>T (p.Thr564Ser) c.1987A>T (p.Thr663Ser) n.2071A>T c.1606+381A>T (n.1606+381A>T) c.1993A>T (p.Thr665Ser) c.628-3450A>T (n.628-3450A>T) c.1144A>T (p.Thr382Ser) c.1597A>T (p.Thr533Ser) c.169+8225T>A (n.169+8225T>A) c.*124+8024T>A (n.*124+8024T>A) c.*1334A>T (n.*1334A>T) c.1081A>T (p.Thr361Ser) c.1984A>T (p.Thr662Ser) c.-1110A>T (n.-1110A>T) c.1804A>T (p.Thr602Ser) | dbSNP |
| 2 | g.47799971C>A | CA346750642 | FBXO11,MSH6 | c.1691C>A (p.Thr564Asn) c.1988C>A (p.Thr663Asn) n.2072C>A c.1606+382C>A (n.1606+382C>A) c.1994C>A (p.Thr665Asn) c.628-3449C>A (n.628-3449C>A) c.1145C>A (p.Thr382Asn) c.1598C>A (p.Thr533Asn) c.169+8224G>T (n.169+8224G>T) c.*124+8023G>T (n.*124+8023G>T) c.*1335C>A (n.*1335C>A) c.1082C>A (p.Thr361Asn) c.1985C>A (p.Thr662Asn) c.-1109C>A (n.-1109C>A) c.1805C>A (p.Thr602Asn) | dbSNP |
| 2 | g.47799971C= | CA2496049166 | FBXO11,MSH6 | c.1691C= (p.Thr564=) c.1988C= (p.Thr663=) n.2072C= c.1606+382C= (n.1606+382C=) c.1994C= (p.Thr665=) c.628-3449C= (n.628-3449C=) c.1145C= (p.Thr382=) c.1598C= (p.Thr533=) c.169+8224G= (n.169+8224G=) c.*124+8023G= (n.*124+8023G=) c.*1335C= (n.*1335C=) c.1082C= (p.Thr361=) c.1985C= (p.Thr662=) c.-1109C= (n.-1109C=) c.1805C= (p.Thr602=) | |
| 2 | g.47799971C>G | CA346750643 | FBXO11,MSH6 | c.1691C>G (p.Thr564Ser) c.1988C>G (p.Thr663Ser) n.2072C>G c.1606+382C>G (n.1606+382C>G) c.1994C>G (p.Thr665Ser) c.628-3449C>G (n.628-3449C>G) c.1145C>G (p.Thr382Ser) c.1598C>G (p.Thr533Ser) c.169+8224G>C (n.169+8224G>C) c.*124+8023G>C (n.*124+8023G>C) c.*1335C>G (n.*1335C>G) c.1082C>G (p.Thr361Ser) c.1985C>G (p.Thr662Ser) c.-1109C>G (n.-1109C>G) c.1805C>G (p.Thr602Ser) | ClinVar dbSNP |
| 2 | g.47799971C>T | CA346750644 | FBXO11,MSH6 | c.1691C>T (p.Thr564Ile) c.1988C>T (p.Thr663Ile) n.2072C>T c.1606+382C>T (n.1606+382C>T) c.1994C>T (p.Thr665Ile) c.628-3449C>T (n.628-3449C>T) c.1145C>T (p.Thr382Ile) c.1598C>T (p.Thr533Ile) c.169+8224G>A (n.169+8224G>A) c.*124+8023G>A (n.*124+8023G>A) c.*1335C>T (n.*1335C>T) c.1082C>T (p.Thr361Ile) c.1985C>T (p.Thr662Ile) c.-1109C>T (n.-1109C>T) c.1805C>T (p.Thr602Ile) | ClinVar dbSNP |
| 2 | g.47799972T>A | CA426121281 | FBXO11,MSH6 | c.1692T>A (p.Thr564=) c.1989T>A (p.Thr663=) n.2073T>A c.1606+383T>A (n.1606+383T>A) c.1995T>A (p.Thr665=) c.628-3448T>A (n.628-3448T>A) c.1146T>A (p.Thr382=) c.1599T>A (p.Thr533=) c.169+8223A>T (n.169+8223A>T) c.*124+8022A>T (n.*124+8022A>T) c.*1336T>A (n.*1336T>A) c.1083T>A (p.Thr361=) c.1986T>A (p.Thr662=) c.-1108T>A (n.-1108T>A) c.1806T>A (p.Thr602=) | dbSNP gnomAD v4 |
| 2 | g.47799972T>C | CA16604583 | FBXO11,MSH6 | c.1692T>C (p.Thr564=) c.1989T>C (p.Thr663=) n.2073T>C c.1606+383T>C (n.1606+383T>C) c.1995T>C (p.Thr665=) c.628-3448T>C (n.628-3448T>C) c.1146T>C (p.Thr382=) c.1599T>C (p.Thr533=) c.169+8223A>G (n.169+8223A>G) c.*124+8022A>G (n.*124+8022A>G) c.*1336T>C (n.*1336T>C) c.1083T>C (p.Thr361=) c.1986T>C (p.Thr662=) c.-1108T>C (n.-1108T>C) c.1806T>C (p.Thr602=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799972T>G | CA16604291 | FBXO11,MSH6 | c.1692T>G (p.Thr564=) c.1989T>G (p.Thr663=) n.2073T>G c.1606+383T>G (n.1606+383T>G) c.1995T>G (p.Thr665=) c.628-3448T>G (n.628-3448T>G) c.1146T>G (p.Thr382=) c.1599T>G (p.Thr533=) c.169+8223A>C (n.169+8223A>C) c.*124+8022A>C (n.*124+8022A>C) c.*1336T>G (n.*1336T>G) c.1083T>G (p.Thr361=) c.1986T>G (p.Thr662=) c.-1108T>G (n.-1108T>G) c.1806T>G (p.Thr602=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.47799972T= | CA2496049167 | FBXO11,MSH6 | c.1692T= (p.Thr564=) c.1989T= (p.Thr663=) n.2073T= c.1606+383T= (n.1606+383T=) c.1995T= (p.Thr665=) c.628-3448T= (n.628-3448T=) c.1146T= (p.Thr382=) c.1599T= (p.Thr533=) c.169+8223A= (n.169+8223A=) c.*124+8022A= (n.*124+8022A=) c.*1336T= (n.*1336T=) c.1083T= (p.Thr361=) c.1986T= (p.Thr662=) c.-1108T= (n.-1108T=) c.1806T= (p.Thr602=) | |
| 2 | g.47799973dup | CA2695200658 | FBXO11,MSH6 | c.1693dup (p.Ser565PhefsTer4) c.1990dup (p.Ser664PhefsTer4) n.2074dup c.1606+384dup (n.1606+384dup) c.1996dup (p.Ser666PhefsTer4) c.628-3447dup (n.628-3447dup) c.1147dup (p.Ser383PhefsTer4) c.1600dup (p.Ser534PhefsTer4) c.169+8223dup (n.169+8223dup) c.*124+8022dup (n.*124+8022dup) c.*1337dup (n.*1337dup) c.1084dup (p.Ser362PhefsTer4) c.1987dup (p.Ser663PhefsTer4) c.-1107dup (n.-1107dup) c.1807dup (p.Ser603PhefsTer4) | ClinVar |
| 2 | g.47799973T>A | CA346750645 | FBXO11,MSH6 | c.1693T>A (p.Ser565Thr) c.1990T>A (p.Ser664Thr) n.2074T>A c.1606+384T>A (n.1606+384T>A) c.1996T>A (p.Ser666Thr) c.628-3447T>A (n.628-3447T>A) c.1147T>A (p.Ser383Thr) c.1600T>A (p.Ser534Thr) c.169+8222A>T (n.169+8222A>T) c.*124+8021A>T (n.*124+8021A>T) c.*1337T>A (n.*1337T>A) c.1084T>A (p.Ser362Thr) c.1987T>A (p.Ser663Thr) c.-1107T>A (n.-1107T>A) c.1807T>A (p.Ser603Thr) | dbSNP |