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.47800002_47800130delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC | CA2496049196 | FBXO11,MSH6 | c.1722_1850delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro574=) c.2019_2147delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro673=) n.2103_2231delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC c.1606+413_1606+541delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (n.1606+413_1606+541delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC) c.2025_2153delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro675=) c.628-3418_628-3290delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (n.628-3418_628-3290delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC) c.1176_1304delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro392=) c.1629_1757delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro543=) c.169+8065_169+8193delinsGTGTCAGAATCCAAGGGAATATATTCTTCAAAATTAGCCATTGATAAAAGCTCCTGATCAATAAGGCATTTTTTGAGGTAGAAGACACAACCACCTAGAGCAGAGAGGGCCAATTCACTTTTCTCTCCT (n.169+8065_169+8193delinsGTGTCAGAATCCAAGGGAATATATTCTTCAAAATTAGCCATTGATAAAAGCTCCTGATCAATAAGGCATTTTTTGAGGTAGAAGACACAACCACCTAGAGCAGAGAGGGCCAATTCACTTTTCTCTCCT) c.*124+7864_*124+7992delinsGTGTCAGAATCCAAGGGAATATATTCTTCAAAATTAGCCATTGATAAAAGCTCCTGATCAATAAGGCATTTTTTGAGGTAGAAGACACAACCACCTAGAGCAGAGAGGGCCAATTCACTTTTCTCTCCT (n.*124+7864_*124+7992delinsGTGTCAGAATCCAAGGGAATATATTCTTCAAAATTAGCCATTGATAAAAGCTCCTGATCAATAAGGCATTTTTTGAGGTAGAAGACACAACCACCTAGAGCAGAGAGGGCCAATTCACTTTTCTCTCCT) c.*1366_*1494delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (n.*1366_*1494delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC) c.1113_1241delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro371=) c.2016_2144delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro672=) c.-1078_-950delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (n.-1078_-950delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC) c.1836_1964delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC (p.Pro612=) | |
2 | g.47800003_47800130delinsTTGT | CA891842829 | FBXO11,MSH6 | c.1723_1850delinsTTGT (p.Gly575LeufsTer2) c.2020_2147delinsTTGT (p.Gly674LeufsTer2) n.2104_2231delinsTTGT c.1606+414_1606+541delinsTTGT (n.1606+414_1606+541delinsTTGT) c.2026_2153delinsTTGT (p.Gly676LeufsTer2) c.628-3417_628-3290delinsTTGT (n.628-3417_628-3290delinsTTGT) c.1177_1304delinsTTGT (p.Gly393LeufsTer2) c.1630_1757delinsTTGT (p.Gly544LeufsTer2) c.169+8065_169+8192delinsACAA (n.169+8065_169+8192delinsACAA) c.*124+7864_*124+7991delinsACAA (n.*124+7864_*124+7991delinsACAA) c.*1367_*1494delinsTTGT (n.*1367_*1494delinsTTGT) c.1114_1241delinsTTGT (p.Gly372LeufsTer2) c.2017_2144delinsTTGT (p.Gly673LeufsTer2) c.-1077_-950delinsTTGT (n.-1077_-950delinsTTGT) c.1837_1964delinsTTGT (p.Gly613LeufsTer2) | ClinVar dbSNP |
2 | g.47800045_47800130del | CA2695200660 | FBXO11,MSH6 | c.1765_1850del (p.Val589SerfsTer?) c.2062_2147del (p.Val688SerfsTer?) n.2146_2231del c.1606+456_1606+541del (n.1606+456_1606+541del) c.2068_2153del (p.Val690SerfsTer?) c.628-3375_628-3290del (n.628-3375_628-3290del) c.1219_1304del (p.Val407SerfsTer?) c.1672_1757del (p.Val558SerfsTer?) c.169+8065_169+8150del (n.169+8065_169+8150del) c.*124+7864_*124+7949del (n.*124+7864_*124+7949del) c.*1409_*1494del (n.*1409_*1494del) c.1156_1241del (p.Val386SerfsTer?) c.2059_2144del (p.Val687SerfsTer?) c.-1035_-950del (n.-1035_-950del) c.1879_1964del (p.Val627SerfsTer?) | ClinVar |
2 | g.47800091T>A | CA346750928 | FBXO11,MSH6 | c.1811T>A (p.Met604Lys) c.2108T>A (p.Met703Lys) n.2192T>A c.1606+502T>A (n.1606+502T>A) c.2114T>A (p.Met705Lys) c.628-3329T>A (n.628-3329T>A) c.1265T>A (p.Met422Lys) c.1718T>A (p.Met573Lys) c.169+8104A>T (n.169+8104A>T) c.*124+7903A>T (n.*124+7903A>T) c.*1455T>A (n.*1455T>A) c.1202T>A (p.Met401Lys) c.2105T>A (p.Met702Lys) c.-989T>A (n.-989T>A) c.1925T>A (p.Met642Lys) | |
2 | g.47800091T>C | CA16617666 | FBXO11,MSH6 | c.1811T>C (p.Met604Thr) c.2108T>C (p.Met703Thr) n.2192T>C c.1606+502T>C (n.1606+502T>C) c.2114T>C (p.Met705Thr) c.628-3329T>C (n.628-3329T>C) c.1265T>C (p.Met422Thr) c.1718T>C (p.Met573Thr) c.169+8104A>G (n.169+8104A>G) c.*124+7903A>G (n.*124+7903A>G) c.*1455T>C (n.*1455T>C) c.1202T>C (p.Met401Thr) c.2105T>C (p.Met702Thr) c.-989T>C (n.-989T>C) c.1925T>C (p.Met642Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.47800091T>G | CA346750931 | FBXO11,MSH6 | c.1811T>G (p.Met604Arg) c.2108T>G (p.Met703Arg) n.2192T>G c.1606+502T>G (n.1606+502T>G) c.2114T>G (p.Met705Arg) c.628-3329T>G (n.628-3329T>G) c.1265T>G (p.Met422Arg) c.1718T>G (p.Met573Arg) c.169+8104A>C (n.169+8104A>C) c.*124+7903A>C (n.*124+7903A>C) c.*1455T>G (n.*1455T>G) c.1202T>G (p.Met401Arg) c.2105T>G (p.Met702Arg) c.-989T>G (n.-989T>G) c.1925T>G (p.Met642Arg) | ClinVar dbSNP |
2 | g.47800091T= | CA2496049272 | FBXO11,MSH6 | c.1811T= (p.Met604=) c.2108T= (p.Met703=) n.2192T= c.1606+502T= (n.1606+502T=) c.2114T= (p.Met705=) c.628-3329T= (n.628-3329T=) c.1265T= (p.Met422=) c.1718T= (p.Met573=) c.169+8104A= (n.169+8104A=) c.*124+7903A= (n.*124+7903A=) c.*1455T= (n.*1455T=) c.1202T= (p.Met401=) c.2105T= (p.Met702=) c.-989T= (n.-989T=) c.1925T= (p.Met642=) | |
2 | g.47800092G>A | CA346750936 | FBXO11,MSH6 | c.1812G>A (p.Met604Ile) c.2109G>A (p.Met703Ile) n.2193G>A c.1606+503G>A (n.1606+503G>A) c.2115G>A (p.Met705Ile) c.628-3328G>A (n.628-3328G>A) c.1266G>A (p.Met422Ile) c.1719G>A (p.Met573Ile) c.169+8103C>T (n.169+8103C>T) c.*124+7902C>T (n.*124+7902C>T) c.*1456G>A (n.*1456G>A) c.1203G>A (p.Met401Ile) c.2106G>A (p.Met702Ile) c.-988G>A (n.-988G>A) c.1926G>A (p.Met642Ile) | dbSNP gnomAD v4 |
2 | g.47800092G>C | CA346750934 | FBXO11,MSH6 | c.1812G>C (p.Met604Ile) c.2109G>C (p.Met703Ile) n.2193G>C c.1606+503G>C (n.1606+503G>C) c.2115G>C (p.Met705Ile) c.628-3328G>C (n.628-3328G>C) c.1266G>C (p.Met422Ile) c.1719G>C (p.Met573Ile) c.169+8103C>G (n.169+8103C>G) c.*124+7902C>G (n.*124+7902C>G) c.*1456G>C (n.*1456G>C) c.1203G>C (p.Met401Ile) c.2106G>C (p.Met702Ile) c.-988G>C (n.-988G>C) c.1926G>C (p.Met642Ile) | dbSNP |
2 | g.47800092G>T | CA346750932 | FBXO11,MSH6 | c.1812G>T (p.Met604Ile) c.2109G>T (p.Met703Ile) n.2193G>T c.1606+503G>T (n.1606+503G>T) c.2115G>T (p.Met705Ile) c.628-3328G>T (n.628-3328G>T) c.1266G>T (p.Met422Ile) c.1719G>T (p.Met573Ile) c.169+8103C>A (n.169+8103C>A) c.*124+7902C>A (n.*124+7902C>A) c.*1456G>T (n.*1456G>T) c.1203G>T (p.Met401Ile) c.2106G>T (p.Met702Ile) c.-988G>T (n.-988G>T) c.1926G>T (p.Met642Ile) | dbSNP |
2 | g.47800092_47800093insAG | CA2699315159 | FBXO11,MSH6 | c.1812_1813insAG (p.Ala605ArgfsTer?) c.2109_2110insAG (p.Ala704ArgfsTer?) n.2193_2194insAG c.1606+503_1606+504insAG (n.1606+503_1606+504insAG) c.2115_2116insAG (p.Ala706ArgfsTer?) c.628-3328_628-3327insAG (n.628-3328_628-3327insAG) c.1266_1267insAG (p.Ala423ArgfsTer?) c.1719_1720insAG (p.Ala574ArgfsTer?) c.169+8103_169+8104insTC (n.169+8103_169+8104insTC) c.*124+7902_*124+7903insTC (n.*124+7902_*124+7903insTC) c.*1456_*1457insAG (n.*1456_*1457insAG) c.1203_1204insAG (p.Ala402ArgfsTer?) c.2106_2107insAG (p.Ala703ArgfsTer?) c.-988_-987insAG (n.-988_-987insAG) c.1926_1927insAG (p.Ala643ArgfsTer?) | dbSNP |
2 | g.47800093G>A | CA346750939 | FBXO11,MSH6 | c.1813G>A (p.Ala605Thr) c.2110G>A (p.Ala704Thr) n.2194G>A c.1606+504G>A (n.1606+504G>A) c.2116G>A (p.Ala706Thr) c.628-3327G>A (n.628-3327G>A) c.1267G>A (p.Ala423Thr) c.1720G>A (p.Ala574Thr) c.169+8102C>T (n.169+8102C>T) c.*124+7901C>T (n.*124+7901C>T) c.*1457G>A (n.*1457G>A) c.1204G>A (p.Ala402Thr) c.2107G>A (p.Ala703Thr) c.-987G>A (n.-987G>A) c.1927G>A (p.Ala643Thr) | dbSNP |
2 | g.47800093G>C | CA346750941 | FBXO11,MSH6 | c.1813G>C (p.Ala605Pro) c.2110G>C (p.Ala704Pro) n.2194G>C c.1606+504G>C (n.1606+504G>C) c.2116G>C (p.Ala706Pro) c.628-3327G>C (n.628-3327G>C) c.1267G>C (p.Ala423Pro) c.1720G>C (p.Ala574Pro) c.169+8102C>G (n.169+8102C>G) c.*124+7901C>G (n.*124+7901C>G) c.*1457G>C (n.*1457G>C) c.1204G>C (p.Ala402Pro) c.2107G>C (p.Ala703Pro) c.-987G>C (n.-987G>C) c.1927G>C (p.Ala643Pro) | dbSNP |
2 | g.47800093G>T | CA346750942 | FBXO11,MSH6 | c.1813G>T (p.Ala605Ser) c.2110G>T (p.Ala704Ser) n.2194G>T c.1606+504G>T (n.1606+504G>T) c.2116G>T (p.Ala706Ser) c.628-3327G>T (n.628-3327G>T) c.1267G>T (p.Ala423Ser) c.1720G>T (p.Ala574Ser) c.169+8102C>A (n.169+8102C>A) c.*124+7901C>A (n.*124+7901C>A) c.*1457G>T (n.*1457G>T) c.1204G>T (p.Ala402Ser) c.2107G>T (p.Ala703Ser) c.-987G>T (n.-987G>T) c.1927G>T (p.Ala643Ser) | ClinVar dbSNP |
2 | g.47800094C>A | CA346750944 | FBXO11,MSH6 | c.1814C>A (p.Ala605Asp) c.2111C>A (p.Ala704Asp) n.2195C>A c.1606+505C>A (n.1606+505C>A) c.2117C>A (p.Ala706Asp) c.628-3326C>A (n.628-3326C>A) c.1268C>A (p.Ala423Asp) c.1721C>A (p.Ala574Asp) c.169+8101G>T (n.169+8101G>T) c.*124+7900G>T (n.*124+7900G>T) c.*1458C>A (n.*1458C>A) c.1205C>A (p.Ala402Asp) c.2108C>A (p.Ala703Asp) c.-986C>A (n.-986C>A) c.1928C>A (p.Ala643Asp) | ClinVar dbSNP |
2 | g.47800094C= | CA2496049273 | FBXO11,MSH6 | c.1814C= (p.Ala605=) c.2111C= (p.Ala704=) n.2195C= c.1606+505C= (n.1606+505C=) c.2117C= (p.Ala706=) c.628-3326C= (n.628-3326C=) c.1268C= (p.Ala423=) c.1721C= (p.Ala574=) c.169+8101G= (n.169+8101G=) c.*124+7900G= (n.*124+7900G=) c.*1458C= (n.*1458C=) c.1205C= (p.Ala402=) c.2108C= (p.Ala703=) c.-986C= (n.-986C=) c.1928C= (p.Ala643=) | |
2 | g.47800094C>G | CA068474 | FBXO11,MSH6 | c.1814C>G (p.Ala605Gly) c.2111C>G (p.Ala704Gly) n.2195C>G c.1606+505C>G (n.1606+505C>G) c.2117C>G (p.Ala706Gly) c.628-3326C>G (n.628-3326C>G) c.1268C>G (p.Ala423Gly) c.1721C>G (p.Ala574Gly) c.169+8101G>C (n.169+8101G>C) c.*124+7900G>C (n.*124+7900G>C) c.*1458C>G (n.*1458C>G) c.1205C>G (p.Ala402Gly) c.2108C>G (p.Ala703Gly) c.-986C>G (n.-986C>G) c.1928C>G (p.Ala643Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800094C>T | CA346750947 | FBXO11,MSH6 | c.1814C>T (p.Ala605Val) c.2111C>T (p.Ala704Val) n.2195C>T c.1606+505C>T (n.1606+505C>T) c.2117C>T (p.Ala706Val) c.628-3326C>T (n.628-3326C>T) c.1268C>T (p.Ala423Val) c.1721C>T (p.Ala574Val) c.169+8101G>A (n.169+8101G>A) c.*124+7900G>A (n.*124+7900G>A) c.*1458C>T (n.*1458C>T) c.1205C>T (p.Ala402Val) c.2108C>T (p.Ala703Val) c.-986C>T (n.-986C>T) c.1928C>T (p.Ala643Val) | ClinVar dbSNP gnomAD v4 |
2 | g.47800095T>A | CA426121550 | FBXO11,MSH6 | c.1815T>A (p.Ala605=) c.2112T>A (p.Ala704=) n.2196T>A c.1606+506T>A (n.1606+506T>A) c.2118T>A (p.Ala706=) c.628-3325T>A (n.628-3325T>A) c.1269T>A (p.Ala423=) c.1722T>A (p.Ala574=) c.169+8100A>T (n.169+8100A>T) c.*124+7899A>T (n.*124+7899A>T) c.*1459T>A (n.*1459T>A) c.1206T>A (p.Ala402=) c.2109T>A (p.Ala703=) c.-985T>A (n.-985T>A) c.1929T>A (p.Ala643=) | |
2 | g.47800095T>C | CA426121551 | FBXO11,MSH6 | c.1815T>C (p.Ala605=) c.2112T>C (p.Ala704=) n.2196T>C c.1606+506T>C (n.1606+506T>C) c.2118T>C (p.Ala706=) c.628-3325T>C (n.628-3325T>C) c.1269T>C (p.Ala423=) c.1722T>C (p.Ala574=) c.169+8100A>G (n.169+8100A>G) c.*124+7899A>G (n.*124+7899A>G) c.*1459T>C (n.*1459T>C) c.1206T>C (p.Ala402=) c.2109T>C (p.Ala703=) c.-985T>C (n.-985T>C) c.1929T>C (p.Ala643=) | ClinVar dbSNP gnomAD v4 |
2 | g.47800095T>G | CA426121553 | FBXO11,MSH6 | c.1815T>G (p.Ala605=) c.2112T>G (p.Ala704=) n.2196T>G c.1606+506T>G (n.1606+506T>G) c.2118T>G (p.Ala706=) c.628-3325T>G (n.628-3325T>G) c.1269T>G (p.Ala423=) c.1722T>G (p.Ala574=) c.169+8100A>C (n.169+8100A>C) c.*124+7899A>C (n.*124+7899A>C) c.*1459T>G (n.*1459T>G) c.1206T>G (p.Ala402=) c.2109T>G (p.Ala703=) c.-985T>G (n.-985T>G) c.1929T>G (p.Ala643=) | |
2 | g.47800095T= | CA2496049274 | FBXO11,MSH6 | c.1815T= (p.Ala605=) c.2112T= (p.Ala704=) n.2196T= c.1606+506T= (n.1606+506T=) c.2118T= (p.Ala706=) c.628-3325T= (n.628-3325T=) c.1269T= (p.Ala423=) c.1722T= (p.Ala574=) c.169+8100A= (n.169+8100A=) c.*124+7899A= (n.*124+7899A=) c.*1459T= (n.*1459T=) c.1206T= (p.Ala402=) c.2109T= (p.Ala703=) c.-985T= (n.-985T=) c.1929T= (p.Ala643=) | |
2 | g.47800096A= | CA2496049275 | FBXO11,MSH6 | c.1816A= (p.Asn606=) c.2113A= (p.Asn705=) n.2197A= c.1606+507A= (n.1606+507A=) c.2119A= (p.Asn707=) c.628-3324A= (n.628-3324A=) c.1270A= (p.Asn424=) c.1723A= (p.Asn575=) c.169+8099T= (n.169+8099T=) c.*124+7898T= (n.*124+7898T=) c.*1460A= (n.*1460A=) c.1207A= (p.Asn403=) c.2110A= (p.Asn704=) c.-984A= (n.-984A=) c.1930A= (p.Asn644=) | |
2 | g.47800096A>C | CA346750953 | FBXO11,MSH6 | c.1816A>C (p.Asn606His) c.2113A>C (p.Asn705His) n.2197A>C c.1606+507A>C (n.1606+507A>C) c.2119A>C (p.Asn707His) c.628-3324A>C (n.628-3324A>C) c.1270A>C (p.Asn424His) c.1723A>C (p.Asn575His) c.169+8099T>G (n.169+8099T>G) c.*124+7898T>G (n.*124+7898T>G) c.*1460A>C (n.*1460A>C) c.1207A>C (p.Asn403His) c.2110A>C (p.Asn704His) c.-984A>C (n.-984A>C) c.1930A>C (p.Asn644His) | dbSNP |
2 | g.47800096A>G | CA346750949 | FBXO11,MSH6 | c.1816A>G (p.Asn606Asp) c.2113A>G (p.Asn705Asp) n.2197A>G c.1606+507A>G (n.1606+507A>G) c.2119A>G (p.Asn707Asp) c.628-3324A>G (n.628-3324A>G) c.1270A>G (p.Asn424Asp) c.1723A>G (p.Asn575Asp) c.169+8099T>C (n.169+8099T>C) c.*124+7898T>C (n.*124+7898T>C) c.*1460A>G (n.*1460A>G) c.1207A>G (p.Asn403Asp) c.2110A>G (p.Asn704Asp) c.-984A>G (n.-984A>G) c.1930A>G (p.Asn644Asp) | ClinVar dbSNP |
2 | g.47800096A>T | CA346750951 | FBXO11,MSH6 | c.1816A>T (p.Asn606Tyr) c.2113A>T (p.Asn705Tyr) n.2197A>T c.1606+507A>T (n.1606+507A>T) c.2119A>T (p.Asn707Tyr) c.628-3324A>T (n.628-3324A>T) c.1270A>T (p.Asn424Tyr) c.1723A>T (p.Asn575Tyr) c.169+8099T>A (n.169+8099T>A) c.*124+7898T>A (n.*124+7898T>A) c.*1460A>T (n.*1460A>T) c.1207A>T (p.Asn403Tyr) c.2110A>T (p.Asn704Tyr) c.-984A>T (n.-984A>T) c.1930A>T (p.Asn644Tyr) | ClinVar dbSNP |
2 | g.47800097A>C | CA346750954 | FBXO11,MSH6 | c.1817A>C (p.Asn606Thr) c.2114A>C (p.Asn705Thr) n.2198A>C c.1606+508A>C (n.1606+508A>C) c.2120A>C (p.Asn707Thr) c.628-3323A>C (n.628-3323A>C) c.1271A>C (p.Asn424Thr) c.1724A>C (p.Asn575Thr) c.169+8098T>G (n.169+8098T>G) c.*124+7897T>G (n.*124+7897T>G) c.*1461A>C (n.*1461A>C) c.1208A>C (p.Asn403Thr) c.2111A>C (p.Asn704Thr) c.-983A>C (n.-983A>C) c.1931A>C (p.Asn644Thr) | gnomAD v4 |
2 | g.47800097A>G | CA346750956 | FBXO11,MSH6 | c.1817A>G (p.Asn606Ser) c.2114A>G (p.Asn705Ser) n.2198A>G c.1606+508A>G (n.1606+508A>G) c.2120A>G (p.Asn707Ser) c.628-3323A>G (n.628-3323A>G) c.1271A>G (p.Asn424Ser) c.1724A>G (p.Asn575Ser) c.169+8098T>C (n.169+8098T>C) c.*124+7897T>C (n.*124+7897T>C) c.*1461A>G (n.*1461A>G) c.1208A>G (p.Asn403Ser) c.2111A>G (p.Asn704Ser) c.-983A>G (n.-983A>G) c.1931A>G (p.Asn644Ser) | |
2 | g.47800097A>T | CA346750958 | FBXO11,MSH6 | c.1817A>T (p.Asn606Ile) c.2114A>T (p.Asn705Ile) n.2198A>T c.1606+508A>T (n.1606+508A>T) c.2120A>T (p.Asn707Ile) c.628-3323A>T (n.628-3323A>T) c.1271A>T (p.Asn424Ile) c.1724A>T (p.Asn575Ile) c.169+8098T>A (n.169+8098T>A) c.*124+7897T>A (n.*124+7897T>A) c.*1461A>T (n.*1461A>T) c.1208A>T (p.Asn403Ile) c.2111A>T (p.Asn704Ile) c.-983A>T (n.-983A>T) c.1931A>T (p.Asn644Ile) | |
2 | g.47800097_47800098delinsAT | CA2496049276 | FBXO11,MSH6 | c.1817_1818delinsAT (p.Asn606=) c.2114_2115delinsAT (p.Asn705=) n.2198_2199delinsAT c.1606+508_1606+509delinsAT (n.1606+508_1606+509delinsAT) c.2120_2121delinsAT (p.Asn707=) c.628-3323_628-3322delinsAT (n.628-3323_628-3322delinsAT) c.1271_1272delinsAT (p.Asn424=) c.1724_1725delinsAT (p.Asn575=) c.169+8097_169+8098delinsAT (n.169+8097_169+8098delinsAT) c.*124+7896_*124+7897delinsAT (n.*124+7896_*124+7897delinsAT) c.*1461_*1462delinsAT (n.*1461_*1462delinsAT) c.1208_1209delinsAT (p.Asn403=) c.2111_2112delinsAT (p.Asn704=) c.-983_-982delinsAT (n.-983_-982delinsAT) c.1931_1932delinsAT (p.Asn644=) | |
2 | g.47800098T>A | CA346750959 | FBXO11,MSH6 | c.1818T>A (p.Asn606Lys) c.2115T>A (p.Asn705Lys) n.2199T>A c.1606+509T>A (n.1606+509T>A) c.2121T>A (p.Asn707Lys) c.628-3322T>A (n.628-3322T>A) c.1272T>A (p.Asn424Lys) c.1725T>A (p.Asn575Lys) c.169+8097A>T (n.169+8097A>T) c.*124+7896A>T (n.*124+7896A>T) c.*1462T>A (n.*1462T>A) c.1209T>A (p.Asn403Lys) c.2112T>A (p.Asn704Lys) c.-982T>A (n.-982T>A) c.1932T>A (p.Asn644Lys) | dbSNP |
2 | g.47800098T>C | CA426121554 | FBXO11,MSH6 | c.1818T>C (p.Asn606=) c.2115T>C (p.Asn705=) n.2199T>C c.1606+509T>C (n.1606+509T>C) c.2121T>C (p.Asn707=) c.628-3322T>C (n.628-3322T>C) c.1272T>C (p.Asn424=) c.1725T>C (p.Asn575=) c.169+8097A>G (n.169+8097A>G) c.*124+7896A>G (n.*124+7896A>G) c.*1462T>C (n.*1462T>C) c.1209T>C (p.Asn403=) c.2112T>C (p.Asn704=) c.-982T>C (n.-982T>C) c.1932T>C (p.Asn644=) | |
2 | g.47800098T>G | CA346750961 | FBXO11,MSH6 | c.1818T>G (p.Asn606Lys) c.2115T>G (p.Asn705Lys) n.2199T>G c.1606+509T>G (n.1606+509T>G) c.2121T>G (p.Asn707Lys) c.628-3322T>G (n.628-3322T>G) c.1272T>G (p.Asn424Lys) c.1725T>G (p.Asn575Lys) c.169+8097A>C (n.169+8097A>C) c.*124+7896A>C (n.*124+7896A>C) c.*1462T>G (n.*1462T>G) c.1209T>G (p.Asn403Lys) c.2112T>G (p.Asn704Lys) c.-982T>G (n.-982T>G) c.1932T>G (p.Asn644Lys) | dbSNP |
2 | g.47800101dup | CA2740130147 | FBXO11,MSH6 | c.1821dup (p.Glu608Ter) c.2118dup (p.Glu707Ter) n.2202dup c.1606+512dup (n.1606+512dup) c.2124dup (p.Glu709Ter) c.628-3319dup (n.628-3319dup) c.1275dup (p.Glu426Ter) c.1728dup (p.Glu577Ter) c.169+8097dup (n.169+8097dup) c.*124+7896dup (n.*124+7896dup) c.*1465dup (n.*1465dup) c.1212dup (p.Glu405Ter) c.2115dup (p.Glu706Ter) c.-979dup (n.-979dup) c.1935dup (p.Glu646Ter) | |
2 | g.47800101del | CA915943927 | FBXO11,MSH6 | c.1821del (p.Phe607LeufsTer30) c.2118del (p.Phe706LeufsTer30) n.2202del c.1606+512del (n.1606+512del) c.2124del (p.Phe708LeufsTer30) c.628-3319del (n.628-3319del) c.1275del (p.Phe425LeufsTer30) c.1728del (p.Phe576LeufsTer30) c.169+8097del (n.169+8097del) c.*124+7896del (n.*124+7896del) c.*1465del (n.*1465del) c.1212del (p.Phe404LeufsTer30) c.2115del (p.Phe705LeufsTer30) c.-979del (n.-979del) c.1935del (p.Phe645LeufsTer30) | ClinVar dbSNP |
2 | g.47800099T>A | CA346750964 | FBXO11,MSH6 | c.1819T>A (p.Phe607Ile) c.2116T>A (p.Phe706Ile) n.2200T>A c.1606+510T>A (n.1606+510T>A) c.2122T>A (p.Phe708Ile) c.628-3321T>A (n.628-3321T>A) c.1273T>A (p.Phe425Ile) c.1726T>A (p.Phe576Ile) c.169+8096A>T (n.169+8096A>T) c.*124+7895A>T (n.*124+7895A>T) c.*1463T>A (n.*1463T>A) c.1210T>A (p.Phe404Ile) c.2113T>A (p.Phe705Ile) c.-981T>A (n.-981T>A) c.1933T>A (p.Phe645Ile) | ClinVar dbSNP |
2 | g.47800099T>C | CA346750965 | FBXO11,MSH6 | c.1819T>C (p.Phe607Leu) c.2116T>C (p.Phe706Leu) n.2200T>C c.1606+510T>C (n.1606+510T>C) c.2122T>C (p.Phe708Leu) c.628-3321T>C (n.628-3321T>C) c.1273T>C (p.Phe425Leu) c.1726T>C (p.Phe576Leu) c.169+8096A>G (n.169+8096A>G) c.*124+7895A>G (n.*124+7895A>G) c.*1463T>C (n.*1463T>C) c.1210T>C (p.Phe404Leu) c.2113T>C (p.Phe705Leu) c.-981T>C (n.-981T>C) c.1933T>C (p.Phe645Leu) | |
2 | g.47800099T>G | CA346750966 | FBXO11,MSH6 | c.1819T>G (p.Phe607Val) c.2116T>G (p.Phe706Val) n.2200T>G c.1606+510T>G (n.1606+510T>G) c.2122T>G (p.Phe708Val) c.628-3321T>G (n.628-3321T>G) c.1273T>G (p.Phe425Val) c.1726T>G (p.Phe576Val) c.169+8096A>C (n.169+8096A>C) c.*124+7895A>C (n.*124+7895A>C) c.*1463T>G (n.*1463T>G) c.1210T>G (p.Phe404Val) c.2113T>G (p.Phe705Val) c.-981T>G (n.-981T>G) c.1933T>G (p.Phe645Val) | ClinVar dbSNP |
2 | g.47800100T>A | CA346750969 | FBXO11,MSH6 | c.1820T>A (p.Phe607Tyr) c.2117T>A (p.Phe706Tyr) n.2201T>A c.1606+511T>A (n.1606+511T>A) c.2123T>A (p.Phe708Tyr) c.628-3320T>A (n.628-3320T>A) c.1274T>A (p.Phe425Tyr) c.1727T>A (p.Phe576Tyr) c.169+8095A>T (n.169+8095A>T) c.*124+7894A>T (n.*124+7894A>T) c.*1464T>A (n.*1464T>A) c.1211T>A (p.Phe404Tyr) c.2114T>A (p.Phe705Tyr) c.-980T>A (n.-980T>A) c.1934T>A (p.Phe645Tyr) | dbSNP |
2 | g.47800100T>C | CA009702 | FBXO11,MSH6 | c.1820T>C (p.Phe607Ser) c.2117T>C (p.Phe706Ser) n.2201T>C c.1606+511T>C (n.1606+511T>C) c.2123T>C (p.Phe708Ser) c.628-3320T>C (n.628-3320T>C) c.1274T>C (p.Phe425Ser) c.1727T>C (p.Phe576Ser) c.169+8095A>G (n.169+8095A>G) c.*124+7894A>G (n.*124+7894A>G) c.*1464T>C (n.*1464T>C) c.1211T>C (p.Phe404Ser) c.2114T>C (p.Phe705Ser) c.-980T>C (n.-980T>C) c.1934T>C (p.Phe645Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.47800100T>G | CA346750971 | FBXO11,MSH6 | c.1820T>G (p.Phe607Cys) c.2117T>G (p.Phe706Cys) n.2201T>G c.1606+511T>G (n.1606+511T>G) c.2123T>G (p.Phe708Cys) c.628-3320T>G (n.628-3320T>G) c.1274T>G (p.Phe425Cys) c.1727T>G (p.Phe576Cys) c.169+8095A>C (n.169+8095A>C) c.*124+7894A>C (n.*124+7894A>C) c.*1464T>G (n.*1464T>G) c.1211T>G (p.Phe404Cys) c.2114T>G (p.Phe705Cys) c.-980T>G (n.-980T>G) c.1934T>G (p.Phe645Cys) | ClinVar dbSNP |
2 | g.47800100T= | CA2496049277 | FBXO11,MSH6 | c.1820T= (p.Phe607=) c.2117T= (p.Phe706=) n.2201T= c.1606+511T= (n.1606+511T=) c.2123T= (p.Phe708=) c.628-3320T= (n.628-3320T=) c.1274T= (p.Phe425=) c.1727T= (p.Phe576=) c.169+8095A= (n.169+8095A=) c.*124+7894A= (n.*124+7894A=) c.*1464T= (n.*1464T=) c.1211T= (p.Phe404=) c.2114T= (p.Phe705=) c.-980T= (n.-980T=) c.1934T= (p.Phe645=) | |
2 | g.47800101T>A | CA346750974 | FBXO11,MSH6 | c.1821T>A (p.Phe607Leu) c.2118T>A (p.Phe706Leu) n.2202T>A c.1606+512T>A (n.1606+512T>A) c.2124T>A (p.Phe708Leu) c.628-3319T>A (n.628-3319T>A) c.1275T>A (p.Phe425Leu) c.1728T>A (p.Phe576Leu) c.169+8094A>T (n.169+8094A>T) c.*124+7893A>T (n.*124+7893A>T) c.*1465T>A (n.*1465T>A) c.1212T>A (p.Phe404Leu) c.2115T>A (p.Phe705Leu) c.-979T>A (n.-979T>A) c.1935T>A (p.Phe645Leu) | ClinVar dbSNP |
2 | g.47800101T>C | CA426121557 | FBXO11,MSH6 | c.1821T>C (p.Phe607=) c.2118T>C (p.Phe706=) n.2202T>C c.1606+512T>C (n.1606+512T>C) c.2124T>C (p.Phe708=) c.628-3319T>C (n.628-3319T>C) c.1275T>C (p.Phe425=) c.1728T>C (p.Phe576=) c.169+8094A>G (n.169+8094A>G) c.*124+7893A>G (n.*124+7893A>G) c.*1465T>C (n.*1465T>C) c.1212T>C (p.Phe404=) c.2115T>C (p.Phe705=) c.-979T>C (n.-979T>C) c.1935T>C (p.Phe645=) | |
2 | g.47800101T>G | CA346750975 | FBXO11,MSH6 | c.1821T>G (p.Phe607Leu) c.2118T>G (p.Phe706Leu) n.2202T>G c.1606+512T>G (n.1606+512T>G) c.2124T>G (p.Phe708Leu) c.628-3319T>G (n.628-3319T>G) c.1275T>G (p.Phe425Leu) c.1728T>G (p.Phe576Leu) c.169+8094A>C (n.169+8094A>C) c.*124+7893A>C (n.*124+7893A>C) c.*1465T>G (n.*1465T>G) c.1212T>G (p.Phe404Leu) c.2115T>G (p.Phe705Leu) c.-979T>G (n.-979T>G) c.1935T>G (p.Phe645Leu) | ClinVar |
2 | g.47800102G>A | CA346750981 | FBXO11,MSH6 | c.1822G>A (p.Glu608Lys) c.2119G>A (p.Glu707Lys) n.2203G>A c.1606+513G>A (n.1606+513G>A) c.2125G>A (p.Glu709Lys) c.628-3318G>A (n.628-3318G>A) c.1276G>A (p.Glu426Lys) c.1729G>A (p.Glu577Lys) c.169+8093C>T (n.169+8093C>T) c.*124+7892C>T (n.*124+7892C>T) c.*1466G>A (n.*1466G>A) c.1213G>A (p.Glu405Lys) c.2116G>A (p.Glu706Lys) c.-978G>A (n.-978G>A) c.1936G>A (p.Glu646Lys) | dbSNP |
2 | g.47800102G>C | CA346750978 | FBXO11,MSH6 | c.1822G>C (p.Glu608Gln) c.2119G>C (p.Glu707Gln) n.2203G>C c.1606+513G>C (n.1606+513G>C) c.2125G>C (p.Glu709Gln) c.628-3318G>C (n.628-3318G>C) c.1276G>C (p.Glu426Gln) c.1729G>C (p.Glu577Gln) c.169+8093C>G (n.169+8093C>G) c.*124+7892C>G (n.*124+7892C>G) c.*1466G>C (n.*1466G>C) c.1213G>C (p.Glu405Gln) c.2116G>C (p.Glu706Gln) c.-978G>C (n.-978G>C) c.1936G>C (p.Glu646Gln) | dbSNP |
2 | g.47800102G>T | CA346750980 | FBXO11,MSH6 | c.1822G>T (p.Glu608Ter) c.2119G>T (p.Glu707Ter) n.2203G>T c.1606+513G>T (n.1606+513G>T) c.2125G>T (p.Glu709Ter) c.628-3318G>T (n.628-3318G>T) c.1276G>T (p.Glu426Ter) c.1729G>T (p.Glu577Ter) c.169+8093C>A (n.169+8093C>A) c.*124+7892C>A (n.*124+7892C>A) c.*1466G>T (n.*1466G>T) c.1213G>T (p.Glu405Ter) c.2116G>T (p.Glu706Ter) c.-978G>T (n.-978G>T) c.1936G>T (p.Glu646Ter) | ClinVar dbSNP |
2 | g.47800102dup | CA2580067757 | FBXO11,MSH6 | c.1822dup (p.Glu608GlyfsTer9) c.2119dup (p.Glu707GlyfsTer9) n.2203dup c.1606+513dup (n.1606+513dup) c.2125dup (p.Glu709GlyfsTer9) c.628-3318dup (n.628-3318dup) c.1276dup (p.Glu426GlyfsTer9) c.1729dup (p.Glu577GlyfsTer9) c.169+8093dup (n.169+8093dup) c.*124+7892dup (n.*124+7892dup) c.*1466dup (n.*1466dup) c.1213dup (p.Glu405GlyfsTer9) c.2116dup (p.Glu706GlyfsTer9) c.-978dup (n.-978dup) c.1936dup (p.Glu646GlyfsTer9) | ClinVar |
2 | g.47800105_47800107del | CA2586969284 | FBXO11,MSH6 | c.1825_1827del (p.Glu609del) c.2122_2124del (p.Glu708del) n.2206_2208del c.1606+516_1606+518del (n.1606+516_1606+518del) c.2128_2130del (p.Glu710del) c.628-3315_628-3313del (n.628-3315_628-3313del) c.1279_1281del (p.Glu427del) c.1732_1734del (p.Glu578del) c.169+8091_169+8093del (n.169+8091_169+8093del) c.*124+7890_*124+7892del (n.*124+7890_*124+7892del) c.*1469_*1471del (n.*1469_*1471del) c.1216_1218del (p.Glu406del) c.2119_2121del (p.Glu707del) c.-975_-973del (n.-975_-973del) c.1939_1941del (p.Glu647del) | |
2 | g.47800103A= | CA2496049278 | FBXO11,MSH6 | c.1823A= (p.Glu608=) c.2120A= (p.Glu707=) n.2204A= c.1606+514A= (n.1606+514A=) c.2126A= (p.Glu709=) c.628-3317A= (n.628-3317A=) c.1277A= (p.Glu426=) c.1730A= (p.Glu577=) c.169+8092T= (n.169+8092T=) c.*124+7891T= (n.*124+7891T=) c.*1467A= (n.*1467A=) c.1214A= (p.Glu405=) c.2117A= (p.Glu706=) c.-977A= (n.-977A=) c.1937A= (p.Glu646=) | |
2 | g.47800103A>C | CA346750984 | FBXO11,MSH6 | c.1823A>C (p.Glu608Ala) c.2120A>C (p.Glu707Ala) n.2204A>C c.1606+514A>C (n.1606+514A>C) c.2126A>C (p.Glu709Ala) c.628-3317A>C (n.628-3317A>C) c.1277A>C (p.Glu426Ala) c.1730A>C (p.Glu577Ala) c.169+8092T>G (n.169+8092T>G) c.*124+7891T>G (n.*124+7891T>G) c.*1467A>C (n.*1467A>C) c.1214A>C (p.Glu405Ala) c.2117A>C (p.Glu706Ala) c.-977A>C (n.-977A>C) c.1937A>C (p.Glu646Ala) | ClinVar dbSNP |
2 | g.47800103A>G | CA346750986 | FBXO11,MSH6 | c.1823A>G (p.Glu608Gly) c.2120A>G (p.Glu707Gly) n.2204A>G c.1606+514A>G (n.1606+514A>G) c.2126A>G (p.Glu709Gly) c.628-3317A>G (n.628-3317A>G) c.1277A>G (p.Glu426Gly) c.1730A>G (p.Glu577Gly) c.169+8092T>C (n.169+8092T>C) c.*124+7891T>C (n.*124+7891T>C) c.*1467A>G (n.*1467A>G) c.1214A>G (p.Glu405Gly) c.2117A>G (p.Glu706Gly) c.-977A>G (n.-977A>G) c.1937A>G (p.Glu646Gly) | ClinVar dbSNP |
2 | g.47800103A>T | CA346750987 | FBXO11,MSH6 | c.1823A>T (p.Glu608Val) c.2120A>T (p.Glu707Val) n.2204A>T c.1606+514A>T (n.1606+514A>T) c.2126A>T (p.Glu709Val) c.628-3317A>T (n.628-3317A>T) c.1277A>T (p.Glu426Val) c.1730A>T (p.Glu577Val) c.169+8092T>A (n.169+8092T>A) c.*124+7891T>A (n.*124+7891T>A) c.*1467A>T (n.*1467A>T) c.1214A>T (p.Glu405Val) c.2117A>T (p.Glu706Val) c.-977A>T (n.-977A>T) c.1937A>T (p.Glu646Val) | dbSNP |
2 | g.47800104A= | CA2496049279 | FBXO11,MSH6 | c.1824A= (p.Glu608=) c.2121A= (p.Glu707=) n.2205A= c.1606+515A= (n.1606+515A=) c.2127A= (p.Glu709=) c.628-3316A= (n.628-3316A=) c.1278A= (p.Glu426=) c.1731A= (p.Glu577=) c.169+8091T= (n.169+8091T=) c.*124+7890T= (n.*124+7890T=) c.*1468A= (n.*1468A=) c.1215A= (p.Glu405=) c.2118A= (p.Glu706=) c.-976A= (n.-976A=) c.1938A= (p.Glu646=) | |
2 | g.47800104A>C | CA346750990 | FBXO11,MSH6 | c.1824A>C (p.Glu608Asp) c.2121A>C (p.Glu707Asp) n.2205A>C c.1606+515A>C (n.1606+515A>C) c.2127A>C (p.Glu709Asp) c.628-3316A>C (n.628-3316A>C) c.1278A>C (p.Glu426Asp) c.1731A>C (p.Glu577Asp) c.169+8091T>G (n.169+8091T>G) c.*124+7890T>G (n.*124+7890T>G) c.*1468A>C (n.*1468A>C) c.1215A>C (p.Glu405Asp) c.2118A>C (p.Glu706Asp) c.-976A>C (n.-976A>C) c.1938A>C (p.Glu646Asp) | gnomAD v4 |
2 | g.47800104A>G | CA426121561 | FBXO11,MSH6 | c.1824A>G (p.Glu608=) c.2121A>G (p.Glu707=) n.2205A>G c.1606+515A>G (n.1606+515A>G) c.2127A>G (p.Glu709=) c.628-3316A>G (n.628-3316A>G) c.1278A>G (p.Glu426=) c.1731A>G (p.Glu577=) c.169+8091T>C (n.169+8091T>C) c.*124+7890T>C (n.*124+7890T>C) c.*1468A>G (n.*1468A>G) c.1215A>G (p.Glu405=) c.2118A>G (p.Glu706=) c.-976A>G (n.-976A>G) c.1938A>G (p.Glu646=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800104A>T | CA346750992 | FBXO11,MSH6 | c.1824A>T (p.Glu608Asp) c.2121A>T (p.Glu707Asp) n.2205A>T c.1606+515A>T (n.1606+515A>T) c.2127A>T (p.Glu709Asp) c.628-3316A>T (n.628-3316A>T) c.1278A>T (p.Glu426Asp) c.1731A>T (p.Glu577Asp) c.169+8091T>A (n.169+8091T>A) c.*124+7890T>A (n.*124+7890T>A) c.*1468A>T (n.*1468A>T) c.1215A>T (p.Glu405Asp) c.2118A>T (p.Glu706Asp) c.-976A>T (n.-976A>T) c.1938A>T (p.Glu646Asp) | ClinVar dbSNP |
2 | g.47800105G>A | CA346750994 | FBXO11,MSH6 | c.1825G>A (p.Glu609Lys) c.2122G>A (p.Glu708Lys) n.2206G>A c.1606+516G>A (n.1606+516G>A) c.2128G>A (p.Glu710Lys) c.628-3315G>A (n.628-3315G>A) c.1279G>A (p.Glu427Lys) c.1732G>A (p.Glu578Lys) c.169+8090C>T (n.169+8090C>T) c.*124+7889C>T (n.*124+7889C>T) c.*1469G>A (n.*1469G>A) c.1216G>A (p.Glu406Lys) c.2119G>A (p.Glu707Lys) c.-975G>A (n.-975G>A) c.1939G>A (p.Glu647Lys) | dbSNP |
2 | g.47800105G>C | CA346750993 | FBXO11,MSH6 | c.1825G>C (p.Glu609Gln) c.2122G>C (p.Glu708Gln) n.2206G>C c.1606+516G>C (n.1606+516G>C) c.2128G>C (p.Glu710Gln) c.628-3315G>C (n.628-3315G>C) c.1279G>C (p.Glu427Gln) c.1732G>C (p.Glu578Gln) c.169+8090C>G (n.169+8090C>G) c.*124+7889C>G (n.*124+7889C>G) c.*1469G>C (n.*1469G>C) c.1216G>C (p.Glu406Gln) c.2119G>C (p.Glu707Gln) c.-975G>C (n.-975G>C) c.1939G>C (p.Glu647Gln) | dbSNP |
2 | g.47800105G= | CA2496049280 | FBXO11,MSH6 | c.1825G= (p.Glu609=) c.2122G= (p.Glu708=) n.2206G= c.1606+516G= (n.1606+516G=) c.2128G= (p.Glu710=) c.628-3315G= (n.628-3315G=) c.1279G= (p.Glu427=) c.1732G= (p.Glu578=) c.169+8090C= (n.169+8090C=) c.*124+7889C= (n.*124+7889C=) c.*1469G= (n.*1469G=) c.1216G= (p.Glu406=) c.2119G= (p.Glu707=) c.-975G= (n.-975G=) c.1939G= (p.Glu647=) | |
2 | g.47800105G>T | CA16617667 | FBXO11,MSH6 | c.1825G>T (p.Glu609Ter) c.2122G>T (p.Glu708Ter) n.2206G>T c.1606+516G>T (n.1606+516G>T) c.2128G>T (p.Glu710Ter) c.628-3315G>T (n.628-3315G>T) c.1279G>T (p.Glu427Ter) c.1732G>T (p.Glu578Ter) c.169+8090C>A (n.169+8090C>A) c.*124+7889C>A (n.*124+7889C>A) c.*1469G>T (n.*1469G>T) c.1216G>T (p.Glu406Ter) c.2119G>T (p.Glu707Ter) c.-975G>T (n.-975G>T) c.1939G>T (p.Glu647Ter) | ClinVar dbSNP |
2 | g.47800106A= | CA2496049281 | FBXO11,MSH6 | c.1826A= (p.Glu609=) c.2123A= (p.Glu708=) n.2207A= c.1606+517A= (n.1606+517A=) c.2129A= (p.Glu710=) c.628-3314A= (n.628-3314A=) c.1280A= (p.Glu427=) c.1733A= (p.Glu578=) c.169+8089T= (n.169+8089T=) c.*124+7888T= (n.*124+7888T=) c.*1470A= (n.*1470A=) c.1217A= (p.Glu406=) c.2120A= (p.Glu707=) c.-974A= (n.-974A=) c.1940A= (p.Glu647=) | |
2 | g.47800106A>C | CA346750996 | FBXO11,MSH6 | c.1826A>C (p.Glu609Ala) c.2123A>C (p.Glu708Ala) n.2207A>C c.1606+517A>C (n.1606+517A>C) c.2129A>C (p.Glu710Ala) c.628-3314A>C (n.628-3314A>C) c.1280A>C (p.Glu427Ala) c.1733A>C (p.Glu578Ala) c.169+8089T>G (n.169+8089T>G) c.*124+7888T>G (n.*124+7888T>G) c.*1470A>C (n.*1470A>C) c.1217A>C (p.Glu406Ala) c.2120A>C (p.Glu707Ala) c.-974A>C (n.-974A>C) c.1940A>C (p.Glu647Ala) | |
2 | g.47800106A>G | CA346750997 | FBXO11,MSH6 | c.1826A>G (p.Glu609Gly) c.2123A>G (p.Glu708Gly) n.2207A>G c.1606+517A>G (n.1606+517A>G) c.2129A>G (p.Glu710Gly) c.628-3314A>G (n.628-3314A>G) c.1280A>G (p.Glu427Gly) c.1733A>G (p.Glu578Gly) c.169+8089T>C (n.169+8089T>C) c.*124+7888T>C (n.*124+7888T>C) c.*1470A>G (n.*1470A>G) c.1217A>G (p.Glu406Gly) c.2120A>G (p.Glu707Gly) c.-974A>G (n.-974A>G) c.1940A>G (p.Glu647Gly) | ClinVar dbSNP |
2 | g.47800106A>T | CA346750999 | FBXO11,MSH6 | c.1826A>T (p.Glu609Val) c.2123A>T (p.Glu708Val) n.2207A>T c.1606+517A>T (n.1606+517A>T) c.2129A>T (p.Glu710Val) c.628-3314A>T (n.628-3314A>T) c.1280A>T (p.Glu427Val) c.1733A>T (p.Glu578Val) c.169+8089T>A (n.169+8089T>A) c.*124+7888T>A (n.*124+7888T>A) c.*1470A>T (n.*1470A>T) c.1217A>T (p.Glu406Val) c.2120A>T (p.Glu707Val) c.-974A>T (n.-974A>T) c.1940A>T (p.Glu647Val) | |
2 | g.47800107_47800109dup | CA913190111 | FBXO11,MSH6 | c.1827_1829dup (p.Tyr610Ter) c.2124_2126dup (p.Tyr709Ter) n.2208_2210dup c.1606+518_1606+520dup (n.1606+518_1606+520dup) c.2130_2132dup (p.Tyr711Ter) c.628-3313_628-3311dup (n.628-3313_628-3311dup) c.1281_1283dup (p.Tyr428Ter) c.1734_1736dup (p.Tyr579Ter) c.169+8087_169+8089dup (n.169+8087_169+8089dup) c.*124+7886_*124+7888dup (n.*124+7886_*124+7888dup) c.*1471_*1473dup (n.*1471_*1473dup) c.1218_1220dup (p.Tyr407Ter) c.2121_2123dup (p.Tyr708Ter) c.-973_-971dup (n.-973_-971dup) c.1941_1943dup (p.Tyr648Ter) | ClinVar dbSNP |
2 | g.47800107A= | CA2496049282 | FBXO11,MSH6 | c.1827A= (p.Glu609=) c.2124A= (p.Glu708=) n.2208A= c.1606+518A= (n.1606+518A=) c.2130A= (p.Glu710=) c.628-3313A= (n.628-3313A=) c.1281A= (p.Glu427=) c.1734A= (p.Glu578=) c.169+8088T= (n.169+8088T=) c.*124+7887T= (n.*124+7887T=) c.*1471A= (n.*1471A=) c.1218A= (p.Glu406=) c.2121A= (p.Glu707=) c.-973A= (n.-973A=) c.1941A= (p.Glu647=) | |
2 | g.47800107A>C | CA346751002 | FBXO11,MSH6 | c.1827A>C (p.Glu609Asp) c.2124A>C (p.Glu708Asp) n.2208A>C c.1606+518A>C (n.1606+518A>C) c.2130A>C (p.Glu710Asp) c.628-3313A>C (n.628-3313A>C) c.1281A>C (p.Glu427Asp) c.1734A>C (p.Glu578Asp) c.169+8088T>G (n.169+8088T>G) c.*124+7887T>G (n.*124+7887T>G) c.*1471A>C (n.*1471A>C) c.1218A>C (p.Glu406Asp) c.2121A>C (p.Glu707Asp) c.-973A>C (n.-973A>C) c.1941A>C (p.Glu647Asp) | dbSNP gnomAD v4 |
2 | g.47800107A>G | CA068480 | FBXO11,MSH6 | c.1827A>G (p.Glu609=) c.2124A>G (p.Glu708=) n.2208A>G c.1606+518A>G (n.1606+518A>G) c.2130A>G (p.Glu710=) c.628-3313A>G (n.628-3313A>G) c.1281A>G (p.Glu427=) c.1734A>G (p.Glu578=) c.169+8088T>C (n.169+8088T>C) c.*124+7887T>C (n.*124+7887T>C) c.*1471A>G (n.*1471A>G) c.1218A>G (p.Glu406=) c.2121A>G (p.Glu707=) c.-973A>G (n.-973A>G) c.1941A>G (p.Glu647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800107A>T | CA346751004 | FBXO11,MSH6 | c.1827A>T (p.Glu609Asp) c.2124A>T (p.Glu708Asp) n.2208A>T c.1606+518A>T (n.1606+518A>T) c.2130A>T (p.Glu710Asp) c.628-3313A>T (n.628-3313A>T) c.1281A>T (p.Glu427Asp) c.1734A>T (p.Glu578Asp) c.169+8088T>A (n.169+8088T>A) c.*124+7887T>A (n.*124+7887T>A) c.*1471A>T (n.*1471A>T) c.1218A>T (p.Glu406Asp) c.2121A>T (p.Glu707Asp) c.-973A>T (n.-973A>T) c.1941A>T (p.Glu647Asp) | dbSNP |
2 | g.47800108T>A | CA346751008 | FBXO11,MSH6 | c.1828T>A (p.Tyr610Asn) c.2125T>A (p.Tyr709Asn) n.2209T>A c.1606+519T>A (n.1606+519T>A) c.2131T>A (p.Tyr711Asn) c.628-3312T>A (n.628-3312T>A) c.1282T>A (p.Tyr428Asn) c.1735T>A (p.Tyr579Asn) c.169+8087A>T (n.169+8087A>T) c.*124+7886A>T (n.*124+7886A>T) c.*1472T>A (n.*1472T>A) c.1219T>A (p.Tyr407Asn) c.2122T>A (p.Tyr708Asn) c.-972T>A (n.-972T>A) c.1942T>A (p.Tyr648Asn) | |
2 | g.47800108T>C | CA346751006 | FBXO11,MSH6 | c.1828T>C (p.Tyr610His) c.2125T>C (p.Tyr709His) n.2209T>C c.1606+519T>C (n.1606+519T>C) c.2131T>C (p.Tyr711His) c.628-3312T>C (n.628-3312T>C) c.1282T>C (p.Tyr428His) c.1735T>C (p.Tyr579His) c.169+8087A>G (n.169+8087A>G) c.*124+7886A>G (n.*124+7886A>G) c.*1472T>C (n.*1472T>C) c.1219T>C (p.Tyr407His) c.2122T>C (p.Tyr708His) c.-972T>C (n.-972T>C) c.1942T>C (p.Tyr648His) | ClinVar |
2 | g.47800108T>G | CA346751007 | FBXO11,MSH6 | c.1828T>G (p.Tyr610Asp) c.2125T>G (p.Tyr709Asp) n.2209T>G c.1606+519T>G (n.1606+519T>G) c.2131T>G (p.Tyr711Asp) c.628-3312T>G (n.628-3312T>G) c.1282T>G (p.Tyr428Asp) c.1735T>G (p.Tyr579Asp) c.169+8087A>C (n.169+8087A>C) c.*124+7886A>C (n.*124+7886A>C) c.*1472T>G (n.*1472T>G) c.1219T>G (p.Tyr407Asp) c.2122T>G (p.Tyr708Asp) c.-972T>G (n.-972T>G) c.1942T>G (p.Tyr648Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.47800108T= | CA2496049283 | FBXO11,MSH6 | c.1828T= (p.Tyr610=) c.2125T= (p.Tyr709=) n.2209T= c.1606+519T= (n.1606+519T=) c.2131T= (p.Tyr711=) c.628-3312T= (n.628-3312T=) c.1282T= (p.Tyr428=) c.1735T= (p.Tyr579=) c.169+8087A= (n.169+8087A=) c.*124+7886A= (n.*124+7886A=) c.*1472T= (n.*1472T=) c.1219T= (p.Tyr407=) c.2122T= (p.Tyr708=) c.-972T= (n.-972T=) c.1942T= (p.Tyr648=) | |
2 | g.47800108dup | CA165079 | FBXO11,MSH6 | c.1828dup (p.Tyr610LeufsTer7) c.2125dup (p.Tyr709LeufsTer7) n.2209dup c.1606+519dup (n.1606+519dup) c.2131dup (p.Tyr711LeufsTer7) c.628-3312dup (n.628-3312dup) c.1282dup (p.Tyr428LeufsTer7) c.1735dup (p.Tyr579LeufsTer7) c.169+8087dup (n.169+8087dup) c.*124+7886dup (n.*124+7886dup) c.*1472dup (n.*1472dup) c.1219dup (p.Tyr407LeufsTer7) c.2122dup (p.Tyr708LeufsTer7) c.-972dup (n.-972dup) c.1942dup (p.Tyr648LeufsTer7) | ClinVar dbSNP |
2 | g.47800109A= | CA2496049284 | FBXO11,MSH6 | c.1829A= (p.Tyr610=) c.2126A= (p.Tyr709=) n.2210A= c.1606+520A= (n.1606+520A=) c.2132A= (p.Tyr711=) c.628-3311A= (n.628-3311A=) c.1283A= (p.Tyr428=) c.1736A= (p.Tyr579=) c.169+8086T= (n.169+8086T=) c.*124+7885T= (n.*124+7885T=) c.*1473A= (n.*1473A=) c.1220A= (p.Tyr407=) c.2123A= (p.Tyr708=) c.-971A= (n.-971A=) c.1943A= (p.Tyr648=) | |
2 | g.47800109A>C | CA346751011 | FBXO11,MSH6 | c.1829A>C (p.Tyr610Ser) c.2126A>C (p.Tyr709Ser) n.2210A>C c.1606+520A>C (n.1606+520A>C) c.2132A>C (p.Tyr711Ser) c.628-3311A>C (n.628-3311A>C) c.1283A>C (p.Tyr428Ser) c.1736A>C (p.Tyr579Ser) c.169+8086T>G (n.169+8086T>G) c.*124+7885T>G (n.*124+7885T>G) c.*1473A>C (n.*1473A>C) c.1220A>C (p.Tyr407Ser) c.2123A>C (p.Tyr708Ser) c.-971A>C (n.-971A>C) c.1943A>C (p.Tyr648Ser) | dbSNP |
2 | g.47800109A>G | CA346751012 | FBXO11,MSH6 | c.1829A>G (p.Tyr610Cys) c.2126A>G (p.Tyr709Cys) n.2210A>G c.1606+520A>G (n.1606+520A>G) c.2132A>G (p.Tyr711Cys) c.628-3311A>G (n.628-3311A>G) c.1283A>G (p.Tyr428Cys) c.1736A>G (p.Tyr579Cys) c.169+8086T>C (n.169+8086T>C) c.*124+7885T>C (n.*124+7885T>C) c.*1473A>G (n.*1473A>G) c.1220A>G (p.Tyr407Cys) c.2123A>G (p.Tyr708Cys) c.-971A>G (n.-971A>G) c.1943A>G (p.Tyr648Cys) | ClinVar dbSNP |
2 | g.47800109A>T | CA346751014 | FBXO11,MSH6 | c.1829A>T (p.Tyr610Phe) c.2126A>T (p.Tyr709Phe) n.2210A>T c.1606+520A>T (n.1606+520A>T) c.2132A>T (p.Tyr711Phe) c.628-3311A>T (n.628-3311A>T) c.1283A>T (p.Tyr428Phe) c.1736A>T (p.Tyr579Phe) c.169+8086T>A (n.169+8086T>A) c.*124+7885T>A (n.*124+7885T>A) c.*1473A>T (n.*1473A>T) c.1220A>T (p.Tyr407Phe) c.2123A>T (p.Tyr708Phe) c.-971A>T (n.-971A>T) c.1943A>T (p.Tyr648Phe) | dbSNP |
2 | g.47800110T>A | CA009710 | FBXO11,MSH6 | c.1830T>A (p.Tyr610Ter) c.2127T>A (p.Tyr709Ter) n.2211T>A c.1606+521T>A (n.1606+521T>A) c.2133T>A (p.Tyr711Ter) c.628-3310T>A (n.628-3310T>A) c.1284T>A (p.Tyr428Ter) c.1737T>A (p.Tyr579Ter) c.169+8085A>T (n.169+8085A>T) c.*124+7884A>T (n.*124+7884A>T) c.*1474T>A (n.*1474T>A) c.1221T>A (p.Tyr407Ter) c.2124T>A (p.Tyr708Ter) c.-970T>A (n.-970T>A) c.1944T>A (p.Tyr648Ter) | ClinVar dbSNP |
2 | g.47800110T>C | CA426121563 | FBXO11,MSH6 | c.1830T>C (p.Tyr610=) c.2127T>C (p.Tyr709=) n.2211T>C c.1606+521T>C (n.1606+521T>C) c.2133T>C (p.Tyr711=) c.628-3310T>C (n.628-3310T>C) c.1284T>C (p.Tyr428=) c.1737T>C (p.Tyr579=) c.169+8085A>G (n.169+8085A>G) c.*124+7884A>G (n.*124+7884A>G) c.*1474T>C (n.*1474T>C) c.1221T>C (p.Tyr407=) c.2124T>C (p.Tyr708=) c.-970T>C (n.-970T>C) c.1944T>C (p.Tyr648=) | ClinVar gnomAD v4 |
2 | g.47800110T>G | CA346751017 | FBXO11,MSH6 | c.1830T>G (p.Tyr610Ter) c.2127T>G (p.Tyr709Ter) n.2211T>G c.1606+521T>G (n.1606+521T>G) c.2133T>G (p.Tyr711Ter) c.628-3310T>G (n.628-3310T>G) c.1284T>G (p.Tyr428Ter) c.1737T>G (p.Tyr579Ter) c.169+8085A>C (n.169+8085A>C) c.*124+7884A>C (n.*124+7884A>C) c.*1474T>G (n.*1474T>G) c.1221T>G (p.Tyr407Ter) c.2124T>G (p.Tyr708Ter) c.-970T>G (n.-970T>G) c.1944T>G (p.Tyr648Ter) | |
2 | g.47800110T= | CA2496049285 | FBXO11,MSH6 | c.1830T= (p.Tyr610=) c.2127T= (p.Tyr709=) n.2211T= c.1606+521T= (n.1606+521T=) c.2133T= (p.Tyr711=) c.628-3310T= (n.628-3310T=) c.1284T= (p.Tyr428=) c.1737T= (p.Tyr579=) c.169+8085A= (n.169+8085A=) c.*124+7884A= (n.*124+7884A=) c.*1474T= (n.*1474T=) c.1221T= (p.Tyr407=) c.2124T= (p.Tyr708=) c.-970T= (n.-970T=) c.1944T= (p.Tyr648=) | |
2 | g.47800111del | CA2573135000 | FBXO11,MSH6 | c.1831del (p.Ile611PhefsTer26) c.2128del (p.Ile710PhefsTer26) n.2212del c.1606+522del (n.1606+522del) c.2134del (p.Ile712PhefsTer26) c.628-3309del (n.628-3309del) c.1285del (p.Ile429PhefsTer26) c.1738del (p.Ile580PhefsTer26) c.169+8084del (n.169+8084del) c.*124+7883del (n.*124+7883del) c.*1475del (n.*1475del) c.1222del (p.Ile408PhefsTer26) c.2125del (p.Ile709PhefsTer26) c.-969del (n.-969del) c.1945del (p.Ile649PhefsTer26) | ClinVar dbSNP |
2 | g.47800111A= | CA2496049286 | FBXO11,MSH6 | c.1831A= (p.Ile611=) c.2128A= (p.Ile710=) n.2212A= c.1606+522A= (n.1606+522A=) c.2134A= (p.Ile712=) c.628-3309A= (n.628-3309A=) c.1285A= (p.Ile429=) c.1738A= (p.Ile580=) c.169+8084T= (n.169+8084T=) c.*124+7883T= (n.*124+7883T=) c.*1475A= (n.*1475A=) c.1222A= (p.Ile408=) c.2125A= (p.Ile709=) c.-969A= (n.-969A=) c.1945A= (p.Ile649=) | |
2 | g.47800111A>C | CA346751019 | FBXO11,MSH6 | c.1831A>C (p.Ile611Leu) c.2128A>C (p.Ile710Leu) n.2212A>C c.1606+522A>C (n.1606+522A>C) c.2134A>C (p.Ile712Leu) c.628-3309A>C (n.628-3309A>C) c.1285A>C (p.Ile429Leu) c.1738A>C (p.Ile580Leu) c.169+8084T>G (n.169+8084T>G) c.*124+7883T>G (n.*124+7883T>G) c.*1475A>C (n.*1475A>C) c.1222A>C (p.Ile408Leu) c.2125A>C (p.Ile709Leu) c.-969A>C (n.-969A>C) c.1945A>C (p.Ile649Leu) | dbSNP |
2 | g.47800111A>G | CA346751020 | FBXO11,MSH6 | c.1831A>G (p.Ile611Val) c.2128A>G (p.Ile710Val) n.2212A>G c.1606+522A>G (n.1606+522A>G) c.2134A>G (p.Ile712Val) c.628-3309A>G (n.628-3309A>G) c.1285A>G (p.Ile429Val) c.1738A>G (p.Ile580Val) c.169+8084T>C (n.169+8084T>C) c.*124+7883T>C (n.*124+7883T>C) c.*1475A>G (n.*1475A>G) c.1222A>G (p.Ile408Val) c.2125A>G (p.Ile709Val) c.-969A>G (n.-969A>G) c.1945A>G (p.Ile649Val) | ClinVar dbSNP |
2 | g.47800111A>T | CA346751022 | FBXO11,MSH6 | c.1831A>T (p.Ile611Phe) c.2128A>T (p.Ile710Phe) n.2212A>T c.1606+522A>T (n.1606+522A>T) c.2134A>T (p.Ile712Phe) c.628-3309A>T (n.628-3309A>T) c.1285A>T (p.Ile429Phe) c.1738A>T (p.Ile580Phe) c.169+8084T>A (n.169+8084T>A) c.*124+7883T>A (n.*124+7883T>A) c.*1475A>T (n.*1475A>T) c.1222A>T (p.Ile408Phe) c.2125A>T (p.Ile709Phe) c.-969A>T (n.-969A>T) c.1945A>T (p.Ile649Phe) | dbSNP |
2 | g.47800112T>A | CA346751025 | FBXO11,MSH6 | c.1832T>A (p.Ile611Asn) c.2129T>A (p.Ile710Asn) n.2213T>A c.1606+523T>A (n.1606+523T>A) c.2135T>A (p.Ile712Asn) c.628-3308T>A (n.628-3308T>A) c.1286T>A (p.Ile429Asn) c.1739T>A (p.Ile580Asn) c.169+8083A>T (n.169+8083A>T) c.*124+7882A>T (n.*124+7882A>T) c.*1476T>A (n.*1476T>A) c.1223T>A (p.Ile408Asn) c.2126T>A (p.Ile709Asn) c.-968T>A (n.-968T>A) c.1946T>A (p.Ile649Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800112T>C | CA068483 | FBXO11,MSH6 | c.1832T>C (p.Ile611Thr) c.2129T>C (p.Ile710Thr) n.2213T>C c.1606+523T>C (n.1606+523T>C) c.2135T>C (p.Ile712Thr) c.628-3308T>C (n.628-3308T>C) c.1286T>C (p.Ile429Thr) c.1739T>C (p.Ile580Thr) c.169+8083A>G (n.169+8083A>G) c.*124+7882A>G (n.*124+7882A>G) c.*1476T>C (n.*1476T>C) c.1223T>C (p.Ile408Thr) c.2126T>C (p.Ile709Thr) c.-968T>C (n.-968T>C) c.1946T>C (p.Ile649Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800112T>G | CA346751027 | FBXO11,MSH6 | c.1832T>G (p.Ile611Ser) c.2129T>G (p.Ile710Ser) n.2213T>G c.1606+523T>G (n.1606+523T>G) c.2135T>G (p.Ile712Ser) c.628-3308T>G (n.628-3308T>G) c.1286T>G (p.Ile429Ser) c.1739T>G (p.Ile580Ser) c.169+8083A>C (n.169+8083A>C) c.*124+7882A>C (n.*124+7882A>C) c.*1476T>G (n.*1476T>G) c.1223T>G (p.Ile408Ser) c.2126T>G (p.Ile709Ser) c.-968T>G (n.-968T>G) c.1946T>G (p.Ile649Ser) | |
2 | g.47800112T= | CA2496049287 | FBXO11,MSH6 | c.1832T= (p.Ile611=) c.2129T= (p.Ile710=) n.2213T= c.1606+523T= (n.1606+523T=) c.2135T= (p.Ile712=) c.628-3308T= (n.628-3308T=) c.1286T= (p.Ile429=) c.1739T= (p.Ile580=) c.169+8083A= (n.169+8083A=) c.*124+7882A= (n.*124+7882A=) c.*1476T= (n.*1476T=) c.1223T= (p.Ile408=) c.2126T= (p.Ile709=) c.-968T= (n.-968T=) c.1946T= (p.Ile649=) | |
2 | g.47800114_47800118del | CA2580067760 | FBXO11,MSH6 | c.1834_1838del (p.Pro612GlyfsTer3) c.2131_2135del (p.Pro711GlyfsTer3) n.2215_2219del c.1606+525_1606+529del (n.1606+525_1606+529del) c.2137_2141del (p.Pro713GlyfsTer3) c.628-3306_628-3302del (n.628-3306_628-3302del) c.1288_1292del (p.Pro430GlyfsTer3) c.1741_1745del (p.Pro581GlyfsTer3) c.169+8079_169+8083del (n.169+8079_169+8083del) c.*124+7878_*124+7882del (n.*124+7878_*124+7882del) c.*1478_*1482del (n.*1478_*1482del) c.1225_1229del (p.Pro409GlyfsTer3) c.2128_2132del (p.Pro710GlyfsTer3) c.-966_-962del (n.-966_-962del) c.1948_1952del (p.Pro650GlyfsTer3) | ClinVar |
2 | g.47800113T>A | CA426121565 | FBXO11,MSH6 | c.1833T>A (p.Ile611=) c.2130T>A (p.Ile710=) n.2214T>A c.1606+524T>A (n.1606+524T>A) c.2136T>A (p.Ile712=) c.628-3307T>A (n.628-3307T>A) c.1287T>A (p.Ile429=) c.1740T>A (p.Ile580=) c.169+8082A>T (n.169+8082A>T) c.*124+7881A>T (n.*124+7881A>T) c.*1477T>A (n.*1477T>A) c.1224T>A (p.Ile408=) c.2127T>A (p.Ile709=) c.-967T>A (n.-967T>A) c.1947T>A (p.Ile649=) | |
2 | g.47800113T>C | CA426121566 | FBXO11,MSH6 | c.1833T>C (p.Ile611=) c.2130T>C (p.Ile710=) n.2214T>C c.1606+524T>C (n.1606+524T>C) c.2136T>C (p.Ile712=) c.628-3307T>C (n.628-3307T>C) c.1287T>C (p.Ile429=) c.1740T>C (p.Ile580=) c.169+8082A>G (n.169+8082A>G) c.*124+7881A>G (n.*124+7881A>G) c.*1477T>C (n.*1477T>C) c.1224T>C (p.Ile408=) c.2127T>C (p.Ile709=) c.-967T>C (n.-967T>C) c.1947T>C (p.Ile649=) | ClinVar dbSNP |
2 | g.47800113T>G | CA346751029 | FBXO11,MSH6 | c.1833T>G (p.Ile611Met) c.2130T>G (p.Ile710Met) n.2214T>G c.1606+524T>G (n.1606+524T>G) c.2136T>G (p.Ile712Met) c.628-3307T>G (n.628-3307T>G) c.1287T>G (p.Ile429Met) c.1740T>G (p.Ile580Met) c.169+8082A>C (n.169+8082A>C) c.*124+7881A>C (n.*124+7881A>C) c.*1477T>G (n.*1477T>G) c.1224T>G (p.Ile408Met) c.2127T>G (p.Ile709Met) c.-967T>G (n.-967T>G) c.1947T>G (p.Ile649Met) | |
2 | g.47800114C>A | CA346751032 | FBXO11,MSH6 | c.1834C>A (p.Pro612Thr) c.2131C>A (p.Pro711Thr) n.2215C>A c.1606+525C>A (n.1606+525C>A) c.2137C>A (p.Pro713Thr) c.628-3306C>A (n.628-3306C>A) c.1288C>A (p.Pro430Thr) c.1741C>A (p.Pro581Thr) c.169+8081G>T (n.169+8081G>T) c.*124+7880G>T (n.*124+7880G>T) c.*1478C>A (n.*1478C>A) c.1225C>A (p.Pro409Thr) c.2128C>A (p.Pro710Thr) c.-966C>A (n.-966C>A) c.1948C>A (p.Pro650Thr) | ClinVar dbSNP |
2 | g.47800114C= | CA2496049288 | FBXO11,MSH6 | c.1834C= (p.Pro612=) c.2131C= (p.Pro711=) n.2215C= c.1606+525C= (n.1606+525C=) c.2137C= (p.Pro713=) c.628-3306C= (n.628-3306C=) c.1288C= (p.Pro430=) c.1741C= (p.Pro581=) c.169+8081G= (n.169+8081G=) c.*124+7880G= (n.*124+7880G=) c.*1478C= (n.*1478C=) c.1225C= (p.Pro409=) c.2128C= (p.Pro710=) c.-966C= (n.-966C=) c.1948C= (p.Pro650=) | |
2 | g.47800114C>G | CA346751036 | FBXO11,MSH6 | c.1834C>G (p.Pro612Ala) c.2131C>G (p.Pro711Ala) n.2215C>G c.1606+525C>G (n.1606+525C>G) c.2137C>G (p.Pro713Ala) c.628-3306C>G (n.628-3306C>G) c.1288C>G (p.Pro430Ala) c.1741C>G (p.Pro581Ala) c.169+8081G>C (n.169+8081G>C) c.*124+7880G>C (n.*124+7880G>C) c.*1478C>G (n.*1478C>G) c.1225C>G (p.Pro409Ala) c.2128C>G (p.Pro710Ala) c.-966C>G (n.-966C>G) c.1948C>G (p.Pro650Ala) | ClinVar dbSNP |
2 | g.47800114C>T | CA10582059 | FBXO11,MSH6 | c.1834C>T (p.Pro612Ser) c.2131C>T (p.Pro711Ser) n.2215C>T c.1606+525C>T (n.1606+525C>T) c.2137C>T (p.Pro713Ser) c.628-3306C>T (n.628-3306C>T) c.1288C>T (p.Pro430Ser) c.1741C>T (p.Pro581Ser) c.169+8081G>A (n.169+8081G>A) c.*124+7880G>A (n.*124+7880G>A) c.*1478C>T (n.*1478C>T) c.1225C>T (p.Pro409Ser) c.2128C>T (p.Pro710Ser) c.-966C>T (n.-966C>T) c.1948C>T (p.Pro650Ser) | ClinVar dbSNP |
2 | g.47800115C>A | CA346751038 | FBXO11,MSH6 | c.1835C>A (p.Pro612His) c.2132C>A (p.Pro711His) n.2216C>A c.1606+526C>A (n.1606+526C>A) c.2138C>A (p.Pro713His) c.628-3305C>A (n.628-3305C>A) c.1289C>A (p.Pro430His) c.1742C>A (p.Pro581His) c.169+8080G>T (n.169+8080G>T) c.*124+7879G>T (n.*124+7879G>T) c.*1479C>A (n.*1479C>A) c.1226C>A (p.Pro409His) c.2129C>A (p.Pro710His) c.-965C>A (n.-965C>A) c.1949C>A (p.Pro650His) | dbSNP |
2 | g.47800115C>G | CA346751040 | FBXO11,MSH6 | c.1835C>G (p.Pro612Arg) c.2132C>G (p.Pro711Arg) n.2216C>G c.1606+526C>G (n.1606+526C>G) c.2138C>G (p.Pro713Arg) c.628-3305C>G (n.628-3305C>G) c.1289C>G (p.Pro430Arg) c.1742C>G (p.Pro581Arg) c.169+8080G>C (n.169+8080G>C) c.*124+7879G>C (n.*124+7879G>C) c.*1479C>G (n.*1479C>G) c.1226C>G (p.Pro409Arg) c.2129C>G (p.Pro710Arg) c.-965C>G (n.-965C>G) c.1949C>G (p.Pro650Arg) | dbSNP |
2 | g.47800115C>T | CA346751042 | FBXO11,MSH6 | c.1835C>T (p.Pro612Leu) c.2132C>T (p.Pro711Leu) n.2216C>T c.1606+526C>T (n.1606+526C>T) c.2138C>T (p.Pro713Leu) c.628-3305C>T (n.628-3305C>T) c.1289C>T (p.Pro430Leu) c.1742C>T (p.Pro581Leu) c.169+8080G>A (n.169+8080G>A) c.*124+7879G>A (n.*124+7879G>A) c.*1479C>T (n.*1479C>T) c.1226C>T (p.Pro409Leu) c.2129C>T (p.Pro710Leu) c.-965C>T (n.-965C>T) c.1949C>T (p.Pro650Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.47800116C>A | CA426121568 | FBXO11,MSH6 | c.1836C>A (p.Pro612=) c.2133C>A (p.Pro711=) n.2217C>A c.1606+527C>A (n.1606+527C>A) c.2139C>A (p.Pro713=) c.628-3304C>A (n.628-3304C>A) c.1290C>A (p.Pro430=) c.1743C>A (p.Pro581=) c.169+8079G>T (n.169+8079G>T) c.*124+7878G>T (n.*124+7878G>T) c.*1480C>A (n.*1480C>A) c.1227C>A (p.Pro409=) c.2130C>A (p.Pro710=) c.-964C>A (n.-964C>A) c.1950C>A (p.Pro650=) | ClinVar dbSNP |
2 | g.47800116C>G | CA426121569 | FBXO11,MSH6 | c.1836C>G (p.Pro612=) c.2133C>G (p.Pro711=) n.2217C>G c.1606+527C>G (n.1606+527C>G) c.2139C>G (p.Pro713=) c.628-3304C>G (n.628-3304C>G) c.1290C>G (p.Pro430=) c.1743C>G (p.Pro581=) c.169+8079G>C (n.169+8079G>C) c.*124+7878G>C (n.*124+7878G>C) c.*1480C>G (n.*1480C>G) c.1227C>G (p.Pro409=) c.2130C>G (p.Pro710=) c.-964C>G (n.-964C>G) c.1950C>G (p.Pro650=) | dbSNP |
2 | g.47800116C>T | CA426121570 | FBXO11,MSH6 | c.1836C>T (p.Pro612=) c.2133C>T (p.Pro711=) n.2217C>T c.1606+527C>T (n.1606+527C>T) c.2139C>T (p.Pro713=) c.628-3304C>T (n.628-3304C>T) c.1290C>T (p.Pro430=) c.1743C>T (p.Pro581=) c.169+8079G>A (n.169+8079G>A) c.*124+7878G>A (n.*124+7878G>A) c.*1480C>T (n.*1480C>T) c.1227C>T (p.Pro409=) c.2130C>T (p.Pro710=) c.-964C>T (n.-964C>T) c.1950C>T (p.Pro650=) | ClinVar dbSNP |
2 | g.47800117T>A | CA346751045 | FBXO11,MSH6 | c.1837T>A (p.Leu613Met) c.2134T>A (p.Leu712Met) n.2218T>A c.1606+528T>A (n.1606+528T>A) c.2140T>A (p.Leu714Met) c.628-3303T>A (n.628-3303T>A) c.1291T>A (p.Leu431Met) c.1744T>A (p.Leu582Met) c.169+8078A>T (n.169+8078A>T) c.*124+7877A>T (n.*124+7877A>T) c.*1481T>A (n.*1481T>A) c.1228T>A (p.Leu410Met) c.2131T>A (p.Leu711Met) c.-963T>A (n.-963T>A) c.1951T>A (p.Leu651Met) | dbSNP |
2 | g.47800117T>C | CA46710386 | FBXO11,MSH6 | c.1837T>C (p.Leu613=) c.2134T>C (p.Leu712=) n.2218T>C c.1606+528T>C (n.1606+528T>C) c.2140T>C (p.Leu714=) c.628-3303T>C (n.628-3303T>C) c.1291T>C (p.Leu431=) c.1744T>C (p.Leu582=) c.169+8078A>G (n.169+8078A>G) c.*124+7877A>G (n.*124+7877A>G) c.*1481T>C (n.*1481T>C) c.1228T>C (p.Leu410=) c.2131T>C (p.Leu711=) c.-963T>C (n.-963T>C) c.1951T>C (p.Leu651=) | ClinVar dbSNP |
2 | g.47800117T>G | CA346751048 | FBXO11,MSH6 | c.1837T>G (p.Leu613Val) c.2134T>G (p.Leu712Val) n.2218T>G c.1606+528T>G (n.1606+528T>G) c.2140T>G (p.Leu714Val) c.628-3303T>G (n.628-3303T>G) c.1291T>G (p.Leu431Val) c.1744T>G (p.Leu582Val) c.169+8078A>C (n.169+8078A>C) c.*124+7877A>C (n.*124+7877A>C) c.*1481T>G (n.*1481T>G) c.1228T>G (p.Leu410Val) c.2131T>G (p.Leu711Val) c.-963T>G (n.-963T>G) c.1951T>G (p.Leu651Val) | ClinVar |
2 | g.47800117T= | CA2496049289 | FBXO11,MSH6 | c.1837T= (p.Leu613=) c.2134T= (p.Leu712=) n.2218T= c.1606+528T= (n.1606+528T=) c.2140T= (p.Leu714=) c.628-3303T= (n.628-3303T=) c.1291T= (p.Leu431=) c.1744T= (p.Leu582=) c.169+8078A= (n.169+8078A=) c.*124+7877A= (n.*124+7877A=) c.*1481T= (n.*1481T=) c.1228T= (p.Leu410=) c.2131T= (p.Leu711=) c.-963T= (n.-963T=) c.1951T= (p.Leu651=) | |
2 | g.47800118T>A | CA346751053 | FBXO11,MSH6 | c.1838T>A (p.Leu613Ter) c.2135T>A (p.Leu712Ter) n.2219T>A c.1606+529T>A (n.1606+529T>A) c.2141T>A (p.Leu714Ter) c.628-3302T>A (n.628-3302T>A) c.1292T>A (p.Leu431Ter) c.1745T>A (p.Leu582Ter) c.169+8077A>T (n.169+8077A>T) c.*124+7876A>T (n.*124+7876A>T) c.*1482T>A (n.*1482T>A) c.1229T>A (p.Leu410Ter) c.2132T>A (p.Leu711Ter) c.-962T>A (n.-962T>A) c.1952T>A (p.Leu651Ter) | |
2 | g.47800118T>C | CA46710394 | FBXO11,MSH6 | c.1838T>C (p.Leu613Ser) c.2135T>C (p.Leu712Ser) n.2219T>C c.1606+529T>C (n.1606+529T>C) c.2141T>C (p.Leu714Ser) c.628-3302T>C (n.628-3302T>C) c.1292T>C (p.Leu431Ser) c.1745T>C (p.Leu582Ser) c.169+8077A>G (n.169+8077A>G) c.*124+7876A>G (n.*124+7876A>G) c.*1482T>C (n.*1482T>C) c.1229T>C (p.Leu410Ser) c.2132T>C (p.Leu711Ser) c.-962T>C (n.-962T>C) c.1952T>C (p.Leu651Ser) | ClinVar dbSNP |
2 | g.47800118T>G | CA346751050 | FBXO11,MSH6 | c.1838T>G (p.Leu613Trp) c.2135T>G (p.Leu712Trp) n.2219T>G c.1606+529T>G (n.1606+529T>G) c.2141T>G (p.Leu714Trp) c.628-3302T>G (n.628-3302T>G) c.1292T>G (p.Leu431Trp) c.1745T>G (p.Leu582Trp) c.169+8077A>C (n.169+8077A>C) c.*124+7876A>C (n.*124+7876A>C) c.*1482T>G (n.*1482T>G) c.1229T>G (p.Leu410Trp) c.2132T>G (p.Leu711Trp) c.-962T>G (n.-962T>G) c.1952T>G (p.Leu651Trp) | |
2 | g.47800118T= | CA2496049290 | FBXO11,MSH6 | c.1838T= (p.Leu613=) c.2135T= (p.Leu712=) n.2219T= c.1606+529T= (n.1606+529T=) c.2141T= (p.Leu714=) c.628-3302T= (n.628-3302T=) c.1292T= (p.Leu431=) c.1745T= (p.Leu582=) c.169+8077A= (n.169+8077A=) c.*124+7876A= (n.*124+7876A=) c.*1482T= (n.*1482T=) c.1229T= (p.Leu410=) c.2132T= (p.Leu711=) c.-962T= (n.-962T=) c.1952T= (p.Leu651=) | |
2 | g.47800118_47800119delinsTG | CA2496049291 | FBXO11,MSH6 | c.1838_1839delinsTG (p.Leu613=) c.2135_2136delinsTG (p.Leu712=) n.2219_2220delinsTG c.1606+529_1606+530delinsTG (n.1606+529_1606+530delinsTG) c.2141_2142delinsTG (p.Leu714=) c.628-3302_628-3301delinsTG (n.628-3302_628-3301delinsTG) c.1292_1293delinsTG (p.Leu431=) c.1745_1746delinsTG (p.Leu582=) c.169+8076_169+8077delinsCA (n.169+8076_169+8077delinsCA) c.*124+7875_*124+7876delinsCA (n.*124+7875_*124+7876delinsCA) c.*1482_*1483delinsTG (n.*1482_*1483delinsTG) c.1229_1230delinsTG (p.Leu410=) c.2132_2133delinsTG (p.Leu711=) c.-962_-961delinsTG (n.-962_-961delinsTG) c.1952_1953delinsTG (p.Leu651=) | |
2 | g.47800119G>A | CA426121571 | FBXO11,MSH6 | c.1839G>A (p.Leu613=) c.2136G>A (p.Leu712=) n.2220G>A c.1606+530G>A (n.1606+530G>A) c.2142G>A (p.Leu714=) c.628-3301G>A (n.628-3301G>A) c.1293G>A (p.Leu431=) c.1746G>A (p.Leu582=) c.169+8076C>T (n.169+8076C>T) c.*124+7875C>T (n.*124+7875C>T) c.*1483G>A (n.*1483G>A) c.1230G>A (p.Leu410=) c.2133G>A (p.Leu711=) c.-961G>A (n.-961G>A) c.1953G>A (p.Leu651=) | ClinVar dbSNP |
2 | g.47800119G>C | CA346751055 | FBXO11,MSH6 | c.1839G>C (p.Leu613Phe) c.2136G>C (p.Leu712Phe) n.2220G>C c.1606+530G>C (n.1606+530G>C) c.2142G>C (p.Leu714Phe) c.628-3301G>C (n.628-3301G>C) c.1293G>C (p.Leu431Phe) c.1746G>C (p.Leu582Phe) c.169+8076C>G (n.169+8076C>G) c.*124+7875C>G (n.*124+7875C>G) c.*1483G>C (n.*1483G>C) c.1230G>C (p.Leu410Phe) c.2133G>C (p.Leu711Phe) c.-961G>C (n.-961G>C) c.1953G>C (p.Leu651Phe) | dbSNP |
2 | g.47800119G>T | CA346751057 | FBXO11,MSH6 | c.1839G>T (p.Leu613Phe) c.2136G>T (p.Leu712Phe) n.2220G>T c.1606+530G>T (n.1606+530G>T) c.2142G>T (p.Leu714Phe) c.628-3301G>T (n.628-3301G>T) c.1293G>T (p.Leu431Phe) c.1746G>T (p.Leu582Phe) c.169+8076C>A (n.169+8076C>A) c.*124+7875C>A (n.*124+7875C>A) c.*1483G>T (n.*1483G>T) c.1230G>T (p.Leu410Phe) c.2133G>T (p.Leu711Phe) c.-961G>T (n.-961G>T) c.1953G>T (p.Leu651Phe) | dbSNP |
2 | g.47800120del | CA348005 | FBXO11,MSH6 | c.1840del (p.Asp614IlefsTer23) c.2137del (p.Asp713IlefsTer23) n.2221del c.1606+531del (n.1606+531del) c.2143del (p.Asp715IlefsTer23) c.628-3300del (n.628-3300del) c.1294del (p.Asp432IlefsTer23) c.1747del (p.Asp583IlefsTer23) c.169+8076del (n.169+8076del) c.*124+7875del (n.*124+7875del) c.*1484del (n.*1484del) c.1231del (p.Asp411IlefsTer23) c.2134del (p.Asp712IlefsTer23) c.-960del (n.-960del) c.1954del (p.Asp652IlefsTer23) | ClinVar dbSNP |
2 | g.47800120G>A | CA10578093 | FBXO11,MSH6 | c.1840G>A (p.Asp614Asn) c.2137G>A (p.Asp713Asn) n.2221G>A c.1606+531G>A (n.1606+531G>A) c.2143G>A (p.Asp715Asn) c.628-3300G>A (n.628-3300G>A) c.1294G>A (p.Asp432Asn) c.1747G>A (p.Asp583Asn) c.169+8075C>T (n.169+8075C>T) c.*124+7874C>T (n.*124+7874C>T) c.*1484G>A (n.*1484G>A) c.1231G>A (p.Asp411Asn) c.2134G>A (p.Asp712Asn) c.-960G>A (n.-960G>A) c.1954G>A (p.Asp652Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800120G>C | CA346751058 | FBXO11,MSH6 | c.1840G>C (p.Asp614His) c.2137G>C (p.Asp713His) n.2221G>C c.1606+531G>C (n.1606+531G>C) c.2143G>C (p.Asp715His) c.628-3300G>C (n.628-3300G>C) c.1294G>C (p.Asp432His) c.1747G>C (p.Asp583His) c.169+8075C>G (n.169+8075C>G) c.*124+7874C>G (n.*124+7874C>G) c.*1484G>C (n.*1484G>C) c.1231G>C (p.Asp411His) c.2134G>C (p.Asp712His) c.-960G>C (n.-960G>C) c.1954G>C (p.Asp652His) | ClinVar dbSNP |
2 | g.47800120G= | CA2496049292 | FBXO11,MSH6 | c.1840G= (p.Asp614=) c.2137G= (p.Asp713=) n.2221G= c.1606+531G= (n.1606+531G=) c.2143G= (p.Asp715=) c.628-3300G= (n.628-3300G=) c.1294G= (p.Asp432=) c.1747G= (p.Asp583=) c.169+8075C= (n.169+8075C=) c.*124+7874C= (n.*124+7874C=) c.*1484G= (n.*1484G=) c.1231G= (p.Asp411=) c.2134G= (p.Asp712=) c.-960G= (n.-960G=) c.1954G= (p.Asp652=) | |
2 | g.47800120G>T | CA346751060 | FBXO11,MSH6 | c.1840G>T (p.Asp614Tyr) c.2137G>T (p.Asp713Tyr) n.2221G>T c.1606+531G>T (n.1606+531G>T) c.2143G>T (p.Asp715Tyr) c.628-3300G>T (n.628-3300G>T) c.1294G>T (p.Asp432Tyr) c.1747G>T (p.Asp583Tyr) c.169+8075C>A (n.169+8075C>A) c.*124+7874C>A (n.*124+7874C>A) c.*1484G>T (n.*1484G>T) c.1231G>T (p.Asp411Tyr) c.2134G>T (p.Asp712Tyr) c.-960G>T (n.-960G>T) c.1954G>T (p.Asp652Tyr) | ClinVar dbSNP |
2 | g.47800121A= | CA2496049293 | FBXO11,MSH6 | c.1841A= (p.Asp614=) c.2138A= (p.Asp713=) n.2222A= c.1606+532A= (n.1606+532A=) c.2144A= (p.Asp715=) c.628-3299A= (n.628-3299A=) c.1295A= (p.Asp432=) c.1748A= (p.Asp583=) c.169+8074T= (n.169+8074T=) c.*124+7873T= (n.*124+7873T=) c.*1485A= (n.*1485A=) c.1232A= (p.Asp411=) c.2135A= (p.Asp712=) c.-959A= (n.-959A=) c.1955A= (p.Asp652=) | |
2 | g.47800121A>C | CA346751063 | FBXO11,MSH6 | c.1841A>C (p.Asp614Ala) c.2138A>C (p.Asp713Ala) n.2222A>C c.1606+532A>C (n.1606+532A>C) c.2144A>C (p.Asp715Ala) c.628-3299A>C (n.628-3299A>C) c.1295A>C (p.Asp432Ala) c.1748A>C (p.Asp583Ala) c.169+8074T>G (n.169+8074T>G) c.*124+7873T>G (n.*124+7873T>G) c.*1485A>C (n.*1485A>C) c.1232A>C (p.Asp411Ala) c.2135A>C (p.Asp712Ala) c.-959A>C (n.-959A>C) c.1955A>C (p.Asp652Ala) | dbSNP |
2 | g.47800121A>G | CA009716 | FBXO11,MSH6 | c.1841A>G (p.Asp614Gly) c.2138A>G (p.Asp713Gly) n.2222A>G c.1606+532A>G (n.1606+532A>G) c.2144A>G (p.Asp715Gly) c.628-3299A>G (n.628-3299A>G) c.1295A>G (p.Asp432Gly) c.1748A>G (p.Asp583Gly) c.169+8074T>C (n.169+8074T>C) c.*124+7873T>C (n.*124+7873T>C) c.*1485A>G (n.*1485A>G) c.1232A>G (p.Asp411Gly) c.2135A>G (p.Asp712Gly) c.-959A>G (n.-959A>G) c.1955A>G (p.Asp652Gly) | ClinVar dbSNP |
2 | g.47800121A>T | CA346751065 | FBXO11,MSH6 | c.1841A>T (p.Asp614Val) c.2138A>T (p.Asp713Val) n.2222A>T c.1606+532A>T (n.1606+532A>T) c.2144A>T (p.Asp715Val) c.628-3299A>T (n.628-3299A>T) c.1295A>T (p.Asp432Val) c.1748A>T (p.Asp583Val) c.169+8074T>A (n.169+8074T>A) c.*124+7873T>A (n.*124+7873T>A) c.*1485A>T (n.*1485A>T) c.1232A>T (p.Asp411Val) c.2135A>T (p.Asp712Val) c.-959A>T (n.-959A>T) c.1955A>T (p.Asp652Val) | dbSNP |
2 | g.47800122T>A | CA346751066 | FBXO11,MSH6 | c.1842T>A (p.Asp614Glu) c.2139T>A (p.Asp713Glu) n.2223T>A c.1606+533T>A (n.1606+533T>A) c.2145T>A (p.Asp715Glu) c.628-3298T>A (n.628-3298T>A) c.1296T>A (p.Asp432Glu) c.1749T>A (p.Asp583Glu) c.169+8073A>T (n.169+8073A>T) c.*124+7872A>T (n.*124+7872A>T) c.*1486T>A (n.*1486T>A) c.1233T>A (p.Asp411Glu) c.2136T>A (p.Asp712Glu) c.-958T>A (n.-958T>A) c.1956T>A (p.Asp652Glu) | ClinVar dbSNP |
2 | g.47800122T>C | CA426121573 | FBXO11,MSH6 | c.1842T>C (p.Asp614=) c.2139T>C (p.Asp713=) n.2223T>C c.1606+533T>C (n.1606+533T>C) c.2145T>C (p.Asp715=) c.628-3298T>C (n.628-3298T>C) c.1296T>C (p.Asp432=) c.1749T>C (p.Asp583=) c.169+8073A>G (n.169+8073A>G) c.*124+7872A>G (n.*124+7872A>G) c.*1486T>C (n.*1486T>C) c.1233T>C (p.Asp411=) c.2136T>C (p.Asp712=) c.-958T>C (n.-958T>C) c.1956T>C (p.Asp652=) | dbSNP |
2 | g.47800122T>G | CA346751067 | FBXO11,MSH6 | c.1842T>G (p.Asp614Glu) c.2139T>G (p.Asp713Glu) n.2223T>G c.1606+533T>G (n.1606+533T>G) c.2145T>G (p.Asp715Glu) c.628-3298T>G (n.628-3298T>G) c.1296T>G (p.Asp432Glu) c.1749T>G (p.Asp583Glu) c.169+8073A>C (n.169+8073A>C) c.*124+7872A>C (n.*124+7872A>C) c.*1486T>G (n.*1486T>G) c.1233T>G (p.Asp411Glu) c.2136T>G (p.Asp712Glu) c.-958T>G (n.-958T>G) c.1956T>G (p.Asp652Glu) | dbSNP |
2 | g.47800122T= | CA2496049294 | FBXO11,MSH6 | c.1842T= (p.Asp614=) c.2139T= (p.Asp713=) n.2223T= c.1606+533T= (n.1606+533T=) c.2145T= (p.Asp715=) c.628-3298T= (n.628-3298T=) c.1296T= (p.Asp432=) c.1749T= (p.Asp583=) c.169+8073A= (n.169+8073A=) c.*124+7872A= (n.*124+7872A=) c.*1486T= (n.*1486T=) c.1233T= (p.Asp411=) c.2136T= (p.Asp712=) c.-958T= (n.-958T=) c.1956T= (p.Asp652=) | |
2 | g.47800123T>A | CA346751068 | FBXO11,MSH6 | c.1843T>A (p.Ser615Thr) c.2140T>A (p.Ser714Thr) n.2224T>A c.1606+534T>A (n.1606+534T>A) c.2146T>A (p.Ser716Thr) c.628-3297T>A (n.628-3297T>A) c.1297T>A (p.Ser433Thr) c.1750T>A (p.Ser584Thr) c.169+8072A>T (n.169+8072A>T) c.*124+7871A>T (n.*124+7871A>T) c.*1487T>A (n.*1487T>A) c.1234T>A (p.Ser412Thr) c.2137T>A (p.Ser713Thr) c.-957T>A (n.-957T>A) c.1957T>A (p.Ser653Thr) | dbSNP |
2 | g.47800123T>C | CA10578094 | FBXO11,MSH6 | c.1843T>C (p.Ser615Pro) c.2140T>C (p.Ser714Pro) n.2224T>C c.1606+534T>C (n.1606+534T>C) c.2146T>C (p.Ser716Pro) c.628-3297T>C (n.628-3297T>C) c.1297T>C (p.Ser433Pro) c.1750T>C (p.Ser584Pro) c.169+8072A>G (n.169+8072A>G) c.*124+7871A>G (n.*124+7871A>G) c.*1487T>C (n.*1487T>C) c.1234T>C (p.Ser412Pro) c.2137T>C (p.Ser713Pro) c.-957T>C (n.-957T>C) c.1957T>C (p.Ser653Pro) | ClinVar dbSNP |
2 | g.47800123T>G | CA346751071 | FBXO11,MSH6 | c.1843T>G (p.Ser615Ala) c.2140T>G (p.Ser714Ala) n.2224T>G c.1606+534T>G (n.1606+534T>G) c.2146T>G (p.Ser716Ala) c.628-3297T>G (n.628-3297T>G) c.1297T>G (p.Ser433Ala) c.1750T>G (p.Ser584Ala) c.169+8072A>C (n.169+8072A>C) c.*124+7871A>C (n.*124+7871A>C) c.*1487T>G (n.*1487T>G) c.1234T>G (p.Ser412Ala) c.2137T>G (p.Ser713Ala) c.-957T>G (n.-957T>G) c.1957T>G (p.Ser653Ala) | dbSNP |
2 | g.47800123T= | CA2496049295 | FBXO11,MSH6 | c.1843T= (p.Ser615=) c.2140T= (p.Ser714=) n.2224T= c.1606+534T= (n.1606+534T=) c.2146T= (p.Ser716=) c.628-3297T= (n.628-3297T=) c.1297T= (p.Ser433=) c.1750T= (p.Ser584=) c.169+8072A= (n.169+8072A=) c.*124+7871A= (n.*124+7871A=) c.*1487T= (n.*1487T=) c.1234T= (p.Ser412=) c.2137T= (p.Ser713=) c.-957T= (n.-957T=) c.1957T= (p.Ser653=) | |
2 | g.47800124C>A | CA346751073 | FBXO11,MSH6 | c.1844C>A (p.Ser615Tyr) c.2141C>A (p.Ser714Tyr) n.2225C>A c.1606+535C>A (n.1606+535C>A) c.2147C>A (p.Ser716Tyr) c.628-3296C>A (n.628-3296C>A) c.1298C>A (p.Ser433Tyr) c.1751C>A (p.Ser584Tyr) c.169+8071G>T (n.169+8071G>T) c.*124+7870G>T (n.*124+7870G>T) c.*1488C>A (n.*1488C>A) c.1235C>A (p.Ser412Tyr) c.2138C>A (p.Ser713Tyr) c.-956C>A (n.-956C>A) c.1958C>A (p.Ser653Tyr) | dbSNP COSMIC |
2 | g.47800124C= | CA2496049296 | FBXO11,MSH6 | c.1844C= (p.Ser615=) c.2141C= (p.Ser714=) n.2225C= c.1606+535C= (n.1606+535C=) c.2147C= (p.Ser716=) c.628-3296C= (n.628-3296C=) c.1298C= (p.Ser433=) c.1751C= (p.Ser584=) c.169+8071G= (n.169+8071G=) c.*124+7870G= (n.*124+7870G=) c.*1488C= (n.*1488C=) c.1235C= (p.Ser412=) c.2138C= (p.Ser713=) c.-956C= (n.-956C=) c.1958C= (p.Ser653=) | |
2 | g.47800124C>G | CA009720 | FBXO11,MSH6 | c.1844C>G (p.Ser615Cys) c.2141C>G (p.Ser714Cys) n.2225C>G c.1606+535C>G (n.1606+535C>G) c.2147C>G (p.Ser716Cys) c.628-3296C>G (n.628-3296C>G) c.1298C>G (p.Ser433Cys) c.1751C>G (p.Ser584Cys) c.169+8071G>C (n.169+8071G>C) c.*124+7870G>C (n.*124+7870G>C) c.*1488C>G (n.*1488C>G) c.1235C>G (p.Ser412Cys) c.2138C>G (p.Ser713Cys) c.-956C>G (n.-956C>G) c.1958C>G (p.Ser653Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800124C>T | CA068492 | FBXO11,MSH6 | c.1844C>T (p.Ser615Phe) c.2141C>T (p.Ser714Phe) n.2225C>T c.1606+535C>T (n.1606+535C>T) c.2147C>T (p.Ser716Phe) c.628-3296C>T (n.628-3296C>T) c.1298C>T (p.Ser433Phe) c.1751C>T (p.Ser584Phe) c.169+8071G>A (n.169+8071G>A) c.*124+7870G>A (n.*124+7870G>A) c.*1488C>T (n.*1488C>T) c.1235C>T (p.Ser412Phe) c.2138C>T (p.Ser713Phe) c.-956C>T (n.-956C>T) c.1958C>T (p.Ser653Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800125T>A | CA426121574 | FBXO11,MSH6 | c.1845T>A (p.Ser615=) c.2142T>A (p.Ser714=) n.2226T>A c.1606+536T>A (n.1606+536T>A) c.2148T>A (p.Ser716=) c.628-3295T>A (n.628-3295T>A) c.1299T>A (p.Ser433=) c.1752T>A (p.Ser584=) c.169+8070A>T (n.169+8070A>T) c.*124+7869A>T (n.*124+7869A>T) c.*1489T>A (n.*1489T>A) c.1236T>A (p.Ser412=) c.2139T>A (p.Ser713=) c.-955T>A (n.-955T>A) c.1959T>A (p.Ser653=) | ClinVar dbSNP |
2 | g.47800125T>C | CA009731 | FBXO11,MSH6 | c.1845T>C (p.Ser615=) c.2142T>C (p.Ser714=) n.2226T>C c.1606+536T>C (n.1606+536T>C) c.2148T>C (p.Ser716=) c.628-3295T>C (n.628-3295T>C) c.1299T>C (p.Ser433=) c.1752T>C (p.Ser584=) c.169+8070A>G (n.169+8070A>G) c.*124+7869A>G (n.*124+7869A>G) c.*1489T>C (n.*1489T>C) c.1236T>C (p.Ser412=) c.2139T>C (p.Ser713=) c.-955T>C (n.-955T>C) c.1959T>C (p.Ser653=) | ClinVar dbSNP gnomAD v4 |
2 | g.47800125T>G | CA426121575 | FBXO11,MSH6 | c.1845T>G (p.Ser615=) c.2142T>G (p.Ser714=) n.2226T>G c.1606+536T>G (n.1606+536T>G) c.2148T>G (p.Ser716=) c.628-3295T>G (n.628-3295T>G) c.1299T>G (p.Ser433=) c.1752T>G (p.Ser584=) c.169+8070A>C (n.169+8070A>C) c.*124+7869A>C (n.*124+7869A>C) c.*1489T>G (n.*1489T>G) c.1236T>G (p.Ser412=) c.2139T>G (p.Ser713=) c.-955T>G (n.-955T>G) c.1959T>G (p.Ser653=) | |
2 | g.47800125T= | CA2496049297 | FBXO11,MSH6 | c.1845T= (p.Ser615=) c.2142T= (p.Ser714=) n.2226T= c.1606+536T= (n.1606+536T=) c.2148T= (p.Ser716=) c.628-3295T= (n.628-3295T=) c.1299T= (p.Ser433=) c.1752T= (p.Ser584=) c.169+8070A= (n.169+8070A=) c.*124+7869A= (n.*124+7869A=) c.*1489T= (n.*1489T=) c.1236T= (p.Ser412=) c.2139T= (p.Ser713=) c.-955T= (n.-955T=) c.1959T= (p.Ser653=) | |
2 | g.47800126G>A | CA346751078 | FBXO11,MSH6 | c.1846G>A (p.Asp616Asn) c.2143G>A (p.Asp715Asn) n.2227G>A c.1606+537G>A (n.1606+537G>A) c.2149G>A (p.Asp717Asn) c.628-3294G>A (n.628-3294G>A) c.1300G>A (p.Asp434Asn) c.1753G>A (p.Asp585Asn) c.169+8069C>T (n.169+8069C>T) c.*124+7868C>T (n.*124+7868C>T) c.*1490G>A (n.*1490G>A) c.1237G>A (p.Asp413Asn) c.2140G>A (p.Asp714Asn) c.-954G>A (n.-954G>A) c.1960G>A (p.Asp654Asn) | ClinVar dbSNP gnomAD v2 |
2 | g.47800126G>C | CA346751080 | FBXO11,MSH6 | c.1846G>C (p.Asp616His) c.2143G>C (p.Asp715His) n.2227G>C c.1606+537G>C (n.1606+537G>C) c.2149G>C (p.Asp717His) c.628-3294G>C (n.628-3294G>C) c.1300G>C (p.Asp434His) c.1753G>C (p.Asp585His) c.169+8069C>G (n.169+8069C>G) c.*124+7868C>G (n.*124+7868C>G) c.*1490G>C (n.*1490G>C) c.1237G>C (p.Asp413His) c.2140G>C (p.Asp714His) c.-954G>C (n.-954G>C) c.1960G>C (p.Asp654His) | ClinVar dbSNP gnomAD v4 |
2 | g.47800126G= | CA2496049299 | FBXO11,MSH6 | c.1846G= (p.Asp616=) c.2143G= (p.Asp715=) n.2227G= c.1606+537G= (n.1606+537G=) c.2149G= (p.Asp717=) c.628-3294G= (n.628-3294G=) c.1300G= (p.Asp434=) c.1753G= (p.Asp585=) c.169+8069C= (n.169+8069C=) c.*124+7868C= (n.*124+7868C=) c.*1490G= (n.*1490G=) c.1237G= (p.Asp413=) c.2140G= (p.Asp714=) c.-954G= (n.-954G=) c.1960G= (p.Asp654=) | |
2 | g.47800126G>T | CA346751081 | FBXO11,MSH6 | c.1846G>T (p.Asp616Tyr) c.2143G>T (p.Asp715Tyr) n.2227G>T c.1606+537G>T (n.1606+537G>T) c.2149G>T (p.Asp717Tyr) c.628-3294G>T (n.628-3294G>T) c.1300G>T (p.Asp434Tyr) c.1753G>T (p.Asp585Tyr) c.169+8069C>A (n.169+8069C>A) c.*124+7868C>A (n.*124+7868C>A) c.*1490G>T (n.*1490G>T) c.1237G>T (p.Asp413Tyr) c.2140G>T (p.Asp714Tyr) c.-954G>T (n.-954G>T) c.1960G>T (p.Asp654Tyr) | dbSNP |
2 | g.47800126_47800128delinsGAC | CA2496049298 | FBXO11,MSH6 | c.1846_1848delinsGAC (p.Asp616=) c.2143_2145delinsGAC (p.Asp715=) n.2227_2229delinsGAC c.1606+537_1606+539delinsGAC (n.1606+537_1606+539delinsGAC) c.2149_2151delinsGAC (p.Asp717=) c.628-3294_628-3292delinsGAC (n.628-3294_628-3292delinsGAC) c.1300_1302delinsGAC (p.Asp434=) c.1753_1755delinsGAC (p.Asp585=) c.169+8067_169+8069delinsGTC (n.169+8067_169+8069delinsGTC) c.*124+7866_*124+7868delinsGTC (n.*124+7866_*124+7868delinsGTC) c.*1490_*1492delinsGAC (n.*1490_*1492delinsGAC) c.1237_1239delinsGAC (p.Asp413=) c.2140_2142delinsGAC (p.Asp714=) c.-954_-952delinsGAC (n.-954_-952delinsGAC) c.1960_1962delinsGAC (p.Asp654=) | |
2 | g.47800127A= | CA2496049300 | FBXO11,MSH6 | c.1847A= (p.Asp616=) c.2144A= (p.Asp715=) n.2228A= c.1606+538A= (n.1606+538A=) c.2150A= (p.Asp717=) c.628-3293A= (n.628-3293A=) c.1301A= (p.Asp434=) c.1754A= (p.Asp585=) c.169+8068T= (n.169+8068T=) c.*124+7867T= (n.*124+7867T=) c.*1491A= (n.*1491A=) c.1238A= (p.Asp413=) c.2141A= (p.Asp714=) c.-953A= (n.-953A=) c.1961A= (p.Asp654=) | |
2 | g.47800127A>C | CA346751083 | FBXO11,MSH6 | c.1847A>C (p.Asp616Ala) c.2144A>C (p.Asp715Ala) n.2228A>C c.1606+538A>C (n.1606+538A>C) c.2150A>C (p.Asp717Ala) c.628-3293A>C (n.628-3293A>C) c.1301A>C (p.Asp434Ala) c.1754A>C (p.Asp585Ala) c.169+8068T>G (n.169+8068T>G) c.*124+7867T>G (n.*124+7867T>G) c.*1491A>C (n.*1491A>C) c.1238A>C (p.Asp413Ala) c.2141A>C (p.Asp714Ala) c.-953A>C (n.-953A>C) c.1961A>C (p.Asp654Ala) | dbSNP |
2 | g.47800127A>G | CA346751085 | FBXO11,MSH6 | c.1847A>G (p.Asp616Gly) c.2144A>G (p.Asp715Gly) n.2228A>G c.1606+538A>G (n.1606+538A>G) c.2150A>G (p.Asp717Gly) c.628-3293A>G (n.628-3293A>G) c.1301A>G (p.Asp434Gly) c.1754A>G (p.Asp585Gly) c.169+8068T>C (n.169+8068T>C) c.*124+7867T>C (n.*124+7867T>C) c.*1491A>G (n.*1491A>G) c.1238A>G (p.Asp413Gly) c.2141A>G (p.Asp714Gly) c.-953A>G (n.-953A>G) c.1961A>G (p.Asp654Gly) | ClinVar dbSNP COSMIC |
2 | g.47800127A>T | CA346751087 | FBXO11,MSH6 | c.1847A>T (p.Asp616Val) c.2144A>T (p.Asp715Val) n.2228A>T c.1606+538A>T (n.1606+538A>T) c.2150A>T (p.Asp717Val) c.628-3293A>T (n.628-3293A>T) c.1301A>T (p.Asp434Val) c.1754A>T (p.Asp585Val) c.169+8068T>A (n.169+8068T>A) c.*124+7867T>A (n.*124+7867T>A) c.*1491A>T (n.*1491A>T) c.1238A>T (p.Asp413Val) c.2141A>T (p.Asp714Val) c.-953A>T (n.-953A>T) c.1961A>T (p.Asp654Val) | ClinVar |
2 | g.47800130_47800131del | CA009736 | FBXO11,MSH6 | c.1850_1851del (p.Thr617SerfsTer?) c.2147_2148del (p.Thr716SerfsTer?) n.2231_2232del c.1606+541_1606+542del (n.1606+541_1606+542del) c.2153_2154del (p.Thr718SerfsTer?) c.628-3290_628-3289del (n.628-3290_628-3289del) c.1304_1305del (p.Thr435SerfsTer?) c.1757_1758del (p.Thr586SerfsTer?) c.169+8067_169+8068del (n.169+8067_169+8068del) c.*124+7866_*124+7867del (n.*124+7866_*124+7867del) c.*1494_*1495del (n.*1494_*1495del) c.1241_1242del (p.Thr414SerfsTer?) c.2144_2145del (p.Thr715SerfsTer?) c.-950_-949del (n.-950_-949del) c.1964_1965del (p.Thr655SerfsTer?) | ClinVar dbSNP |
2 | g.47800128C>A | CA346751088 | FBXO11,MSH6 | c.1848C>A (p.Asp616Glu) c.2145C>A (p.Asp715Glu) n.2229C>A c.1606+539C>A (n.1606+539C>A) c.2151C>A (p.Asp717Glu) c.628-3292C>A (n.628-3292C>A) c.1302C>A (p.Asp434Glu) c.1755C>A (p.Asp585Glu) c.169+8067G>T (n.169+8067G>T) c.*124+7866G>T (n.*124+7866G>T) c.*1492C>A (n.*1492C>A) c.1239C>A (p.Asp413Glu) c.2142C>A (p.Asp714Glu) c.-952C>A (n.-952C>A) c.1962C>A (p.Asp654Glu) | dbSNP |
2 | g.47800128C= | CA2496049301 | FBXO11,MSH6 | c.1848C= (p.Asp616=) c.2145C= (p.Asp715=) n.2229C= c.1606+539C= (n.1606+539C=) c.2151C= (p.Asp717=) c.628-3292C= (n.628-3292C=) c.1302C= (p.Asp434=) c.1755C= (p.Asp585=) c.169+8067G= (n.169+8067G=) c.*124+7866G= (n.*124+7866G=) c.*1492C= (n.*1492C=) c.1239C= (p.Asp413=) c.2142C= (p.Asp714=) c.-952C= (n.-952C=) c.1962C= (p.Asp654=) | |
2 | g.47800128C>G | CA346751090 | FBXO11,MSH6 | c.1848C>G (p.Asp616Glu) c.2145C>G (p.Asp715Glu) n.2229C>G c.1606+539C>G (n.1606+539C>G) c.2151C>G (p.Asp717Glu) c.628-3292C>G (n.628-3292C>G) c.1302C>G (p.Asp434Glu) c.1755C>G (p.Asp585Glu) c.169+8067G>C (n.169+8067G>C) c.*124+7866G>C (n.*124+7866G>C) c.*1492C>G (n.*1492C>G) c.1239C>G (p.Asp413Glu) c.2142C>G (p.Asp714Glu) c.-952C>G (n.-952C>G) c.1962C>G (p.Asp654Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800128C>T | CA426121578 | FBXO11,MSH6 | c.1848C>T (p.Asp616=) c.2145C>T (p.Asp715=) n.2229C>T c.1606+539C>T (n.1606+539C>T) c.2151C>T (p.Asp717=) c.628-3292C>T (n.628-3292C>T) c.1302C>T (p.Asp434=) c.1755C>T (p.Asp585=) c.169+8067G>A (n.169+8067G>A) c.*124+7866G>A (n.*124+7866G>A) c.*1492C>T (n.*1492C>T) c.1239C>T (p.Asp413=) c.2142C>T (p.Asp714=) c.-952C>T (n.-952C>T) c.1962C>T (p.Asp654=) | ClinVar dbSNP gnomAD v4 |
2 | g.47800129A= | CA2496049303 | FBXO11,MSH6 | c.1849A= (p.Thr617=) c.2146A= (p.Thr716=) n.2230A= c.1606+540A= (n.1606+540A=) c.2152A= (p.Thr718=) c.628-3291A= (n.628-3291A=) c.1303A= (p.Thr435=) c.1756A= (p.Thr586=) c.169+8066T= (n.169+8066T=) c.*124+7865T= (n.*124+7865T=) c.*1493A= (n.*1493A=) c.1240A= (p.Thr414=) c.2143A= (p.Thr715=) c.-951A= (n.-951A=) c.1963A= (p.Thr655=) | |
2 | g.47800129A>C | CA346751092 | FBXO11,MSH6 | c.1849A>C (p.Thr617Pro) c.2146A>C (p.Thr716Pro) n.2230A>C c.1606+540A>C (n.1606+540A>C) c.2152A>C (p.Thr718Pro) c.628-3291A>C (n.628-3291A>C) c.1303A>C (p.Thr435Pro) c.1756A>C (p.Thr586Pro) c.169+8066T>G (n.169+8066T>G) c.*124+7865T>G (n.*124+7865T>G) c.*1493A>C (n.*1493A>C) c.1240A>C (p.Thr414Pro) c.2143A>C (p.Thr715Pro) c.-951A>C (n.-951A>C) c.1963A>C (p.Thr655Pro) | dbSNP |
2 | g.47800129A>G | CA068496 | FBXO11,MSH6 | c.1849A>G (p.Thr617Ala) c.2146A>G (p.Thr716Ala) n.2230A>G c.1606+540A>G (n.1606+540A>G) c.2152A>G (p.Thr718Ala) c.628-3291A>G (n.628-3291A>G) c.1303A>G (p.Thr435Ala) c.1756A>G (p.Thr586Ala) c.169+8066T>C (n.169+8066T>C) c.*124+7865T>C (n.*124+7865T>C) c.*1493A>G (n.*1493A>G) c.1240A>G (p.Thr414Ala) c.2143A>G (p.Thr715Ala) c.-951A>G (n.-951A>G) c.1963A>G (p.Thr655Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800129A>T | CA346751095 | FBXO11,MSH6 | c.1849A>T (p.Thr617Ser) c.2146A>T (p.Thr716Ser) n.2230A>T c.1606+540A>T (n.1606+540A>T) c.2152A>T (p.Thr718Ser) c.628-3291A>T (n.628-3291A>T) c.1303A>T (p.Thr435Ser) c.1756A>T (p.Thr586Ser) c.169+8066T>A (n.169+8066T>A) c.*124+7865T>A (n.*124+7865T>A) c.*1493A>T (n.*1493A>T) c.1240A>T (p.Thr414Ser) c.2143A>T (p.Thr715Ser) c.-951A>T (n.-951A>T) c.1963A>T (p.Thr655Ser) | dbSNP |
2 | g.47800129_47800133delinsACAGT | CA2496049302 | FBXO11,MSH6 | c.1849_1853delinsACAGT (p.Thr617=) c.2146_2150delinsACAGT (p.Thr716=) n.2230_2234delinsACAGT c.1606+540_1606+544delinsACAGT (n.1606+540_1606+544delinsACAGT) c.2152_2156delinsACAGT (p.Thr718=) c.628-3291_628-3287delinsACAGT (n.628-3291_628-3287delinsACAGT) c.1303_1307delinsACAGT (p.Thr435=) c.1756_1760delinsACAGT (p.Thr586=) c.169+8062_169+8066delinsACTGT (n.169+8062_169+8066delinsACTGT) c.*124+7861_*124+7865delinsACTGT (n.*124+7861_*124+7865delinsACTGT) c.*1493_*1497delinsACAGT (n.*1493_*1497delinsACAGT) c.1240_1244delinsACAGT (p.Thr414=) c.2143_2147delinsACAGT (p.Thr715=) c.-951_-947delinsACAGT (n.-951_-947delinsACAGT) c.1963_1967delinsACAGT (p.Thr655=) | |
2 | g.47800129_47800136delinsACAGTCAG | CA2496049304 | FBXO11,MSH6 | c.1849_1856delinsACAGTCAG (p.Thr617=) c.2146_2153delinsACAGTCAG (p.Thr716=) n.2230_2237delinsACAGTCAG c.1606+540_1606+547delinsACAGTCAG (n.1606+540_1606+547delinsACAGTCAG) c.2152_2159delinsACAGTCAG (p.Thr718=) c.628-3291_628-3284delinsACAGTCAG (n.628-3291_628-3284delinsACAGTCAG) c.1303_1310delinsACAGTCAG (p.Thr435=) c.1756_1763delinsACAGTCAG (p.Thr586=) c.169+8059_169+8066delinsCTGACTGT (n.169+8059_169+8066delinsCTGACTGT) c.*124+7858_*124+7865delinsCTGACTGT (n.*124+7858_*124+7865delinsCTGACTGT) c.*1493_*1500delinsACAGTCAG (n.*1493_*1500delinsACAGTCAG) c.1240_1247delinsACAGTCAG (p.Thr414=) c.2143_2150delinsACAGTCAG (p.Thr715=) c.-951_-944delinsACAGTCAG (n.-951_-944delinsACAGTCAG) c.1963_1970delinsACAGTCAG (p.Thr655=) | |
2 | g.47800130C>A | CA346751099 | FBXO11,MSH6 | c.1850C>A (p.Thr617Lys) c.2147C>A (p.Thr716Lys) n.2231C>A c.1606+541C>A (n.1606+541C>A) c.2153C>A (p.Thr718Lys) c.628-3290C>A (n.628-3290C>A) c.1304C>A (p.Thr435Lys) c.1757C>A (p.Thr586Lys) c.169+8065G>T (n.169+8065G>T) c.*124+7864G>T (n.*124+7864G>T) c.*1494C>A (n.*1494C>A) c.1241C>A (p.Thr414Lys) c.2144C>A (p.Thr715Lys) c.-950C>A (n.-950C>A) c.1964C>A (p.Thr655Lys) | ClinVar dbSNP |
2 | g.47800130C= | CA2496049305 | FBXO11,MSH6 | c.1850C= (p.Thr617=) c.2147C= (p.Thr716=) n.2231C= c.1606+541C= (n.1606+541C=) c.2153C= (p.Thr718=) c.628-3290C= (n.628-3290C=) c.1304C= (p.Thr435=) c.1757C= (p.Thr586=) c.169+8065G= (n.169+8065G=) c.*124+7864G= (n.*124+7864G=) c.*1494C= (n.*1494C=) c.1241C= (p.Thr414=) c.2144C= (p.Thr715=) c.-950C= (n.-950C=) c.1964C= (p.Thr655=) | |
2 | g.47800130C>G | CA16617668 | FBXO11,MSH6 | c.1850C>G (p.Thr617Arg) c.2147C>G (p.Thr716Arg) n.2231C>G c.1606+541C>G (n.1606+541C>G) c.2153C>G (p.Thr718Arg) c.628-3290C>G (n.628-3290C>G) c.1304C>G (p.Thr435Arg) c.1757C>G (p.Thr586Arg) c.169+8065G>C (n.169+8065G>C) c.*124+7864G>C (n.*124+7864G>C) c.*1494C>G (n.*1494C>G) c.1241C>G (p.Thr414Arg) c.2144C>G (p.Thr715Arg) c.-950C>G (n.-950C>G) c.1964C>G (p.Thr655Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.47800130C>T | CA009755 | FBXO11,MSH6 | c.1850C>T (p.Thr617Ile) c.2147C>T (p.Thr716Ile) n.2231C>T c.1606+541C>T (n.1606+541C>T) c.2153C>T (p.Thr718Ile) c.628-3290C>T (n.628-3290C>T) c.1304C>T (p.Thr435Ile) c.1757C>T (p.Thr586Ile) c.169+8065G>A (n.169+8065G>A) c.*124+7864G>A (n.*124+7864G>A) c.*1494C>T (n.*1494C>T) c.1241C>T (p.Thr414Ile) c.2144C>T (p.Thr715Ile) c.-950C>T (n.-950C>T) c.1964C>T (p.Thr655Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800133_47800136del | CA009744 | FBXO11,MSH6 | c.1853_1856del (p.Val618AlafsTer18) c.2150_2153del (p.Val717AlafsTer18) n.2234_2237del c.1606+544_1606+547del (n.1606+544_1606+547del) c.2156_2159del (p.Val719AlafsTer18) c.628-3287_628-3284del (n.628-3287_628-3284del) c.1307_1310del (p.Val436AlafsTer18) c.1760_1763del (p.Val587AlafsTer18) c.169+8062_169+8065del (n.169+8062_169+8065del) c.*124+7861_*124+7864del (n.*124+7861_*124+7864del) c.*1497_*1500del (n.*1497_*1500del) c.1244_1247del (p.Val415AlafsTer18) c.2147_2150del (p.Val716AlafsTer18) c.-947_-944del (n.-947_-944del) c.1967_1970del (p.Val656AlafsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800132_47800138del | CA913188061 | FBXO11,MSH6 | c.1852_1858del (p.Val618LeufsTer17) c.2149_2155del (p.Val717LeufsTer17) n.2233_2239del c.1606+543_1606+549del (n.1606+543_1606+549del) c.2155_2161del (p.Val719LeufsTer17) c.628-3288_628-3282del (n.628-3288_628-3282del) c.1306_1312del (p.Val436LeufsTer17) c.1759_1765del (p.Val587LeufsTer17) c.169+8059_169+8065del (n.169+8059_169+8065del) c.*124+7858_*124+7864del (n.*124+7858_*124+7864del) c.*1496_*1502del (n.*1496_*1502del) c.1243_1249del (p.Val415LeufsTer17) c.2146_2152del (p.Val716LeufsTer17) c.-948_-942del (n.-948_-942del) c.1966_1972del (p.Val656LeufsTer17) | ClinVar dbSNP |
2 | g.47800131A>C | CA426121586 | FBXO11,MSH6 | c.1851A>C (p.Thr617=) c.2148A>C (p.Thr716=) n.2232A>C c.1606+542A>C (n.1606+542A>C) c.2154A>C (p.Thr718=) c.628-3289A>C (n.628-3289A>C) c.1305A>C (p.Thr435=) c.1758A>C (p.Thr586=) c.169+8064T>G (n.169+8064T>G) c.*124+7863T>G (n.*124+7863T>G) c.*1495A>C (n.*1495A>C) c.1242A>C (p.Thr414=) c.2145A>C (p.Thr715=) c.-949A>C (n.-949A>C) c.1965A>C (p.Thr655=) | ClinVar gnomAD v4 |
2 | g.47800131A>G | CA426121587 | FBXO11,MSH6 | c.1851A>G (p.Thr617=) c.2148A>G (p.Thr716=) n.2232A>G c.1606+542A>G (n.1606+542A>G) c.2154A>G (p.Thr718=) c.628-3289A>G (n.628-3289A>G) c.1305A>G (p.Thr435=) c.1758A>G (p.Thr586=) c.169+8064T>C (n.169+8064T>C) c.*124+7863T>C (n.*124+7863T>C) c.*1495A>G (n.*1495A>G) c.1242A>G (p.Thr414=) c.2145A>G (p.Thr715=) c.-949A>G (n.-949A>G) c.1965A>G (p.Thr655=) | dbSNP |
2 | g.47800131A>T | CA426121588 | FBXO11,MSH6 | c.1851A>T (p.Thr617=) c.2148A>T (p.Thr716=) n.2232A>T c.1606+542A>T (n.1606+542A>T) c.2154A>T (p.Thr718=) c.628-3289A>T (n.628-3289A>T) c.1305A>T (p.Thr435=) c.1758A>T (p.Thr586=) c.169+8064T>A (n.169+8064T>A) c.*124+7863T>A (n.*124+7863T>A) c.*1495A>T (n.*1495A>T) c.1242A>T (p.Thr414=) c.2145A>T (p.Thr715=) c.-949A>T (n.-949A>T) c.1965A>T (p.Thr655=) | dbSNP |
2 | g.47800132G>A | CA346751104 | FBXO11,MSH6 | c.1852G>A (p.Val618Ile) c.2149G>A (p.Val717Ile) n.2233G>A c.1606+543G>A (n.1606+543G>A) c.2155G>A (p.Val719Ile) c.628-3288G>A (n.628-3288G>A) c.1306G>A (p.Val436Ile) c.1759G>A (p.Val587Ile) c.169+8063C>T (n.169+8063C>T) c.*124+7862C>T (n.*124+7862C>T) c.*1496G>A (n.*1496G>A) c.1243G>A (p.Val415Ile) c.2146G>A (p.Val716Ile) c.-948G>A (n.-948G>A) c.1966G>A (p.Val656Ile) | ClinVar dbSNP |
2 | g.47800132G>C | CA346751106 | FBXO11,MSH6 | c.1852G>C (p.Val618Leu) c.2149G>C (p.Val717Leu) n.2233G>C c.1606+543G>C (n.1606+543G>C) c.2155G>C (p.Val719Leu) c.628-3288G>C (n.628-3288G>C) c.1306G>C (p.Val436Leu) c.1759G>C (p.Val587Leu) c.169+8063C>G (n.169+8063C>G) c.*124+7862C>G (n.*124+7862C>G) c.*1496G>C (n.*1496G>C) c.1243G>C (p.Val415Leu) c.2146G>C (p.Val716Leu) c.-948G>C (n.-948G>C) c.1966G>C (p.Val656Leu) | ClinVar dbSNP |
2 | g.47800132G= | CA2496049306 | FBXO11,MSH6 | c.1852G= (p.Val618=) c.2149G= (p.Val717=) n.2233G= c.1606+543G= (n.1606+543G=) c.2155G= (p.Val719=) c.628-3288G= (n.628-3288G=) c.1306G= (p.Val436=) c.1759G= (p.Val587=) c.169+8063C= (n.169+8063C=) c.*124+7862C= (n.*124+7862C=) c.*1496G= (n.*1496G=) c.1243G= (p.Val415=) c.2146G= (p.Val716=) c.-948G= (n.-948G=) c.1966G= (p.Val656=) | |
2 | g.47800132G>T | CA346751107 | FBXO11,MSH6 | c.1852G>T (p.Val618Phe) c.2149G>T (p.Val717Phe) n.2233G>T c.1606+543G>T (n.1606+543G>T) c.2155G>T (p.Val719Phe) c.628-3288G>T (n.628-3288G>T) c.1306G>T (p.Val436Phe) c.1759G>T (p.Val587Phe) c.169+8063C>A (n.169+8063C>A) c.*124+7862C>A (n.*124+7862C>A) c.*1496G>T (n.*1496G>T) c.1243G>T (p.Val415Phe) c.2146G>T (p.Val716Phe) c.-948G>T (n.-948G>T) c.1966G>T (p.Val656Phe) | ClinVar dbSNP |
2 | g.47800133T>A | CA346751109 | FBXO11,MSH6 | c.1853T>A (p.Val618Asp) c.2150T>A (p.Val717Asp) n.2234T>A c.1606+544T>A (n.1606+544T>A) c.2156T>A (p.Val719Asp) c.628-3287T>A (n.628-3287T>A) c.1307T>A (p.Val436Asp) c.1760T>A (p.Val587Asp) c.169+8062A>T (n.169+8062A>T) c.*124+7861A>T (n.*124+7861A>T) c.*1497T>A (n.*1497T>A) c.1244T>A (p.Val415Asp) c.2147T>A (p.Val716Asp) c.-947T>A (n.-947T>A) c.1967T>A (p.Val656Asp) | |
2 | g.47800133T>C | CA346751112 | FBXO11,MSH6 | c.1853T>C (p.Val618Ala) c.2150T>C (p.Val717Ala) n.2234T>C c.1606+544T>C (n.1606+544T>C) c.2156T>C (p.Val719Ala) c.628-3287T>C (n.628-3287T>C) c.1307T>C (p.Val436Ala) c.1760T>C (p.Val587Ala) c.169+8062A>G (n.169+8062A>G) c.*124+7861A>G (n.*124+7861A>G) c.*1497T>C (n.*1497T>C) c.1244T>C (p.Val415Ala) c.2147T>C (p.Val716Ala) c.-947T>C (n.-947T>C) c.1967T>C (p.Val656Ala) | ClinVar |
2 | g.47800133T>G | CA346751111 | FBXO11,MSH6 | c.1853T>G (p.Val618Gly) c.2150T>G (p.Val717Gly) n.2234T>G c.1606+544T>G (n.1606+544T>G) c.2156T>G (p.Val719Gly) c.628-3287T>G (n.628-3287T>G) c.1307T>G (p.Val436Gly) c.1760T>G (p.Val587Gly) c.169+8062A>C (n.169+8062A>C) c.*124+7861A>C (n.*124+7861A>C) c.*1497T>G (n.*1497T>G) c.1244T>G (p.Val415Gly) c.2147T>G (p.Val716Gly) c.-947T>G (n.-947T>G) c.1967T>G (p.Val656Gly) | ClinVar |
2 | g.47800134C>A | CA426121601 | FBXO11,MSH6 | c.1854C>A (p.Val618=) c.2151C>A (p.Val717=) n.2235C>A c.1606+545C>A (n.1606+545C>A) c.2157C>A (p.Val719=) c.628-3286C>A (n.628-3286C>A) c.1308C>A (p.Val436=) c.1761C>A (p.Val587=) c.169+8061G>T (n.169+8061G>T) c.*124+7860G>T (n.*124+7860G>T) c.*1498C>A (n.*1498C>A) c.1245C>A (p.Val415=) c.2148C>A (p.Val716=) c.-946C>A (n.-946C>A) c.1968C>A (p.Val656=) | dbSNP |
2 | g.47800134C= | CA2496049307 | FBXO11,MSH6 | c.1854C= (p.Val618=) c.2151C= (p.Val717=) n.2235C= c.1606+545C= (n.1606+545C=) c.2157C= (p.Val719=) c.628-3286C= (n.628-3286C=) c.1308C= (p.Val436=) c.1761C= (p.Val587=) c.169+8061G= (n.169+8061G=) c.*124+7860G= (n.*124+7860G=) c.*1498C= (n.*1498C=) c.1245C= (p.Val415=) c.2148C= (p.Val716=) c.-946C= (n.-946C=) c.1968C= (p.Val656=) | |
2 | g.47800134C>G | CA426121594 | FBXO11,MSH6 | c.1854C>G (p.Val618=) c.2151C>G (p.Val717=) n.2235C>G c.1606+545C>G (n.1606+545C>G) c.2157C>G (p.Val719=) c.628-3286C>G (n.628-3286C>G) c.1308C>G (p.Val436=) c.1761C>G (p.Val587=) c.169+8061G>C (n.169+8061G>C) c.*124+7860G>C (n.*124+7860G>C) c.*1498C>G (n.*1498C>G) c.1245C>G (p.Val415=) c.2148C>G (p.Val716=) c.-946C>G (n.-946C>G) c.1968C>G (p.Val656=) | ClinVar dbSNP |
2 | g.47800134C>T | CA426121599 | FBXO11,MSH6 | c.1854C>T (p.Val618=) c.2151C>T (p.Val717=) n.2235C>T c.1606+545C>T (n.1606+545C>T) c.2157C>T (p.Val719=) c.628-3286C>T (n.628-3286C>T) c.1308C>T (p.Val436=) c.1761C>T (p.Val587=) c.169+8061G>A (n.169+8061G>A) c.*124+7860G>A (n.*124+7860G>A) c.*1498C>T (n.*1498C>T) c.1245C>T (p.Val415=) c.2148C>T (p.Val716=) c.-946C>T (n.-946C>T) c.1968C>T (p.Val656=) | ClinVar dbSNP gnomAD v4 |
2 | g.47800135A= | CA2496049308 | FBXO11,MSH6 | c.1855A= (p.Ser619=) c.2152A= (p.Ser718=) n.2236A= c.1606+546A= (n.1606+546A=) c.2158A= (p.Ser720=) c.628-3285A= (n.628-3285A=) c.1309A= (p.Ser437=) c.1762A= (p.Ser588=) c.169+8060T= (n.169+8060T=) c.*124+7859T= (n.*124+7859T=) c.*1499A= (n.*1499A=) c.1246A= (p.Ser416=) c.2149A= (p.Ser717=) c.-945A= (n.-945A=) c.1969A= (p.Ser657=) | |
2 | g.47800135A>C | CA346751114 | FBXO11,MSH6 | c.1855A>C (p.Ser619Arg) c.2152A>C (p.Ser718Arg) n.2236A>C c.1606+546A>C (n.1606+546A>C) c.2158A>C (p.Ser720Arg) c.628-3285A>C (n.628-3285A>C) c.1309A>C (p.Ser437Arg) c.1762A>C (p.Ser588Arg) c.169+8060T>G (n.169+8060T>G) c.*124+7859T>G (n.*124+7859T>G) c.*1499A>C (n.*1499A>C) c.1246A>C (p.Ser416Arg) c.2149A>C (p.Ser717Arg) c.-945A>C (n.-945A>C) c.1969A>C (p.Ser657Arg) | |
2 | g.47800135A>G | CA346751116 | FBXO11,MSH6 | c.1855A>G (p.Ser619Gly) c.2152A>G (p.Ser718Gly) n.2236A>G c.1606+546A>G (n.1606+546A>G) c.2158A>G (p.Ser720Gly) c.628-3285A>G (n.628-3285A>G) c.1309A>G (p.Ser437Gly) c.1762A>G (p.Ser588Gly) c.169+8060T>C (n.169+8060T>C) c.*124+7859T>C (n.*124+7859T>C) c.*1499A>G (n.*1499A>G) c.1246A>G (p.Ser416Gly) c.2149A>G (p.Ser717Gly) c.-945A>G (n.-945A>G) c.1969A>G (p.Ser657Gly) | ClinVar dbSNP |
2 | g.47800135A>T | CA46710456 | FBXO11,MSH6 | c.1855A>T (p.Ser619Cys) c.2152A>T (p.Ser718Cys) n.2236A>T c.1606+546A>T (n.1606+546A>T) c.2158A>T (p.Ser720Cys) c.628-3285A>T (n.628-3285A>T) c.1309A>T (p.Ser437Cys) c.1762A>T (p.Ser588Cys) c.169+8060T>A (n.169+8060T>A) c.*124+7859T>A (n.*124+7859T>A) c.*1499A>T (n.*1499A>T) c.1246A>T (p.Ser416Cys) c.2149A>T (p.Ser717Cys) c.-945A>T (n.-945A>T) c.1969A>T (p.Ser657Cys) | ClinVar dbSNP |
2 | g.47800136G>A | CA346751119 | FBXO11,MSH6 | c.1856G>A (p.Ser619Asn) c.2153G>A (p.Ser718Asn) n.2237G>A c.1606+547G>A (n.1606+547G>A) c.2159G>A (p.Ser720Asn) c.628-3284G>A (n.628-3284G>A) c.1310G>A (p.Ser437Asn) c.1763G>A (p.Ser588Asn) c.169+8059C>T (n.169+8059C>T) c.*124+7858C>T (n.*124+7858C>T) c.*1500G>A (n.*1500G>A) c.1247G>A (p.Ser416Asn) c.2150G>A (p.Ser717Asn) c.-944G>A (n.-944G>A) c.1970G>A (p.Ser657Asn) | ClinVar dbSNP |
2 | g.47800136G>C | CA346751120 | FBXO11,MSH6 | c.1856G>C (p.Ser619Thr) c.2153G>C (p.Ser718Thr) n.2237G>C c.1606+547G>C (n.1606+547G>C) c.2159G>C (p.Ser720Thr) c.628-3284G>C (n.628-3284G>C) c.1310G>C (p.Ser437Thr) c.1763G>C (p.Ser588Thr) c.169+8059C>G (n.169+8059C>G) c.*124+7858C>G (n.*124+7858C>G) c.*1500G>C (n.*1500G>C) c.1247G>C (p.Ser416Thr) c.2150G>C (p.Ser717Thr) c.-944G>C (n.-944G>C) c.1970G>C (p.Ser657Thr) | ClinVar dbSNP |
2 | g.47800136G= | CA2496049309 | FBXO11,MSH6 | c.1856G= (p.Ser619=) c.2153G= (p.Ser718=) n.2237G= c.1606+547G= (n.1606+547G=) c.2159G= (p.Ser720=) c.628-3284G= (n.628-3284G=) c.1310G= (p.Ser437=) c.1763G= (p.Ser588=) c.169+8059C= (n.169+8059C=) c.*124+7858C= (n.*124+7858C=) c.*1500G= (n.*1500G=) c.1247G= (p.Ser416=) c.2150G= (p.Ser717=) c.-944G= (n.-944G=) c.1970G= (p.Ser657=) | |
2 | g.47800136G>T | CA346751121 | FBXO11,MSH6 | c.1856G>T (p.Ser619Ile) c.2153G>T (p.Ser718Ile) n.2237G>T c.1606+547G>T (n.1606+547G>T) c.2159G>T (p.Ser720Ile) c.628-3284G>T (n.628-3284G>T) c.1310G>T (p.Ser437Ile) c.1763G>T (p.Ser588Ile) c.169+8059C>A (n.169+8059C>A) c.*124+7858C>A (n.*124+7858C>A) c.*1500G>T (n.*1500G>T) c.1247G>T (p.Ser416Ile) c.2150G>T (p.Ser717Ile) c.-944G>T (n.-944G>T) c.1970G>T (p.Ser657Ile) | dbSNP gnomAD v4 |
2 | g.47800137C>A | CA346751122 | FBXO11,MSH6 | c.1857C>A (p.Ser619Arg) c.2154C>A (p.Ser718Arg) n.2238C>A c.1606+548C>A (n.1606+548C>A) c.2160C>A (p.Ser720Arg) c.628-3283C>A (n.628-3283C>A) c.1311C>A (p.Ser437Arg) c.1764C>A (p.Ser588Arg) c.169+8058G>T (n.169+8058G>T) c.*124+7857G>T (n.*124+7857G>T) c.*1501C>A (n.*1501C>A) c.1248C>A (p.Ser416Arg) c.2151C>A (p.Ser717Arg) c.-943C>A (n.-943C>A) c.1971C>A (p.Ser657Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.47800137C= | CA2496049310 | FBXO11,MSH6 | c.1857C= (p.Ser619=) c.2154C= (p.Ser718=) n.2238C= c.1606+548C= (n.1606+548C=) c.2160C= (p.Ser720=) c.628-3283C= (n.628-3283C=) c.1311C= (p.Ser437=) c.1764C= (p.Ser588=) c.169+8058G= (n.169+8058G=) c.*124+7857G= (n.*124+7857G=) c.*1501C= (n.*1501C=) c.1248C= (p.Ser416=) c.2151C= (p.Ser717=) c.-943C= (n.-943C=) c.1971C= (p.Ser657=) | |
2 | g.47800137C>G | CA346751123 | FBXO11,MSH6 | c.1857C>G (p.Ser619Arg) c.2154C>G (p.Ser718Arg) n.2238C>G c.1606+548C>G (n.1606+548C>G) c.2160C>G (p.Ser720Arg) c.628-3283C>G (n.628-3283C>G) c.1311C>G (p.Ser437Arg) c.1764C>G (p.Ser588Arg) c.169+8058G>C (n.169+8058G>C) c.*124+7857G>C (n.*124+7857G>C) c.*1501C>G (n.*1501C>G) c.1248C>G (p.Ser416Arg) c.2151C>G (p.Ser717Arg) c.-943C>G (n.-943C>G) c.1971C>G (p.Ser657Arg) | dbSNP |
2 | g.47800137C>T | CA009776 | FBXO11,MSH6 | c.1857C>T (p.Ser619=) c.2154C>T (p.Ser718=) n.2238C>T c.1606+548C>T (n.1606+548C>T) c.2160C>T (p.Ser720=) c.628-3283C>T (n.628-3283C>T) c.1311C>T (p.Ser437=) c.1764C>T (p.Ser588=) c.169+8058G>A (n.169+8058G>A) c.*124+7857G>A (n.*124+7857G>A) c.*1501C>T (n.*1501C>T) c.1248C>T (p.Ser416=) c.2151C>T (p.Ser717=) c.-943C>T (n.-943C>T) c.1971C>T (p.Ser657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800138A= | CA2496049311 | FBXO11,MSH6 | c.1858A= (p.Thr620=) c.2155A= (p.Thr719=) n.2239A= c.1606+549A= (n.1606+549A=) c.2161A= (p.Thr721=) c.628-3282A= (n.628-3282A=) c.1312A= (p.Thr438=) c.1765A= (p.Thr589=) c.169+8057T= (n.169+8057T=) c.*124+7856T= (n.*124+7856T=) c.*1502A= (n.*1502A=) c.1249A= (p.Thr417=) c.2152A= (p.Thr718=) c.-942A= (n.-942A=) c.1972A= (p.Thr658=) | |
2 | g.47800138A>C | CA346751124 | FBXO11,MSH6 | c.1858A>C (p.Thr620Pro) c.2155A>C (p.Thr719Pro) n.2239A>C c.1606+549A>C (n.1606+549A>C) c.2161A>C (p.Thr721Pro) c.628-3282A>C (n.628-3282A>C) c.1312A>C (p.Thr438Pro) c.1765A>C (p.Thr589Pro) c.169+8057T>G (n.169+8057T>G) c.*124+7856T>G (n.*124+7856T>G) c.*1502A>C (n.*1502A>C) c.1249A>C (p.Thr417Pro) c.2152A>C (p.Thr718Pro) c.-942A>C (n.-942A>C) c.1972A>C (p.Thr658Pro) | dbSNP |
2 | g.47800138A>G | CA346751129 | FBXO11,MSH6 | c.1858A>G (p.Thr620Ala) c.2155A>G (p.Thr719Ala) n.2239A>G c.1606+549A>G (n.1606+549A>G) c.2161A>G (p.Thr721Ala) c.628-3282A>G (n.628-3282A>G) c.1312A>G (p.Thr438Ala) c.1765A>G (p.Thr589Ala) c.169+8057T>C (n.169+8057T>C) c.*124+7856T>C (n.*124+7856T>C) c.*1502A>G (n.*1502A>G) c.1249A>G (p.Thr417Ala) c.2152A>G (p.Thr718Ala) c.-942A>G (n.-942A>G) c.1972A>G (p.Thr658Ala) | ClinVar dbSNP |
2 | g.47800138A>T | CA346751127 | FBXO11,MSH6 | c.1858A>T (p.Thr620Ser) c.2155A>T (p.Thr719Ser) n.2239A>T c.1606+549A>T (n.1606+549A>T) c.2161A>T (p.Thr721Ser) c.628-3282A>T (n.628-3282A>T) c.1312A>T (p.Thr438Ser) c.1765A>T (p.Thr589Ser) c.169+8057T>A (n.169+8057T>A) c.*124+7856T>A (n.*124+7856T>A) c.*1502A>T (n.*1502A>T) c.1249A>T (p.Thr417Ser) c.2152A>T (p.Thr718Ser) c.-942A>T (n.-942A>T) c.1972A>T (p.Thr658Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800139C>A | CA346751130 | FBXO11,MSH6 | c.1859C>A (p.Thr620Asn) c.2156C>A (p.Thr719Asn) n.2240C>A c.1606+550C>A (n.1606+550C>A) c.2162C>A (p.Thr721Asn) c.628-3281C>A (n.628-3281C>A) c.1313C>A (p.Thr438Asn) c.1766C>A (p.Thr589Asn) c.169+8056G>T (n.169+8056G>T) c.*124+7855G>T (n.*124+7855G>T) c.*1503C>A (n.*1503C>A) c.1250C>A (p.Thr417Asn) c.2153C>A (p.Thr718Asn) c.-941C>A (n.-941C>A) c.1973C>A (p.Thr658Asn) | dbSNP |
2 | g.47800139C= | CA2496049312 | FBXO11,MSH6 | c.1859C= (p.Thr620=) c.2156C= (p.Thr719=) n.2240C= c.1606+550C= (n.1606+550C=) c.2162C= (p.Thr721=) c.628-3281C= (n.628-3281C=) c.1313C= (p.Thr438=) c.1766C= (p.Thr589=) c.169+8056G= (n.169+8056G=) c.*124+7855G= (n.*124+7855G=) c.*1503C= (n.*1503C=) c.1250C= (p.Thr417=) c.2153C= (p.Thr718=) c.-941C= (n.-941C=) c.1973C= (p.Thr658=) | |
2 | g.47800139C>G | CA346751133 | FBXO11,MSH6 | c.1859C>G (p.Thr620Ser) c.2156C>G (p.Thr719Ser) n.2240C>G c.1606+550C>G (n.1606+550C>G) c.2162C>G (p.Thr721Ser) c.628-3281C>G (n.628-3281C>G) c.1313C>G (p.Thr438Ser) c.1766C>G (p.Thr589Ser) c.169+8056G>C (n.169+8056G>C) c.*124+7855G>C (n.*124+7855G>C) c.*1503C>G (n.*1503C>G) c.1250C>G (p.Thr417Ser) c.2153C>G (p.Thr718Ser) c.-941C>G (n.-941C>G) c.1973C>G (p.Thr658Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800139C>T | CA068506 | FBXO11,MSH6 | c.1859C>T (p.Thr620Ile) c.2156C>T (p.Thr719Ile) n.2240C>T c.1606+550C>T (n.1606+550C>T) c.2162C>T (p.Thr721Ile) c.628-3281C>T (n.628-3281C>T) c.1313C>T (p.Thr438Ile) c.1766C>T (p.Thr589Ile) c.169+8056G>A (n.169+8056G>A) c.*124+7855G>A (n.*124+7855G>A) c.*1503C>T (n.*1503C>T) c.1250C>T (p.Thr417Ile) c.2153C>T (p.Thr718Ile) c.-941C>T (n.-941C>T) c.1973C>T (p.Thr658Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800140T>A | CA426121604 | FBXO11,MSH6 | c.1860T>A (p.Thr620=) c.2157T>A (p.Thr719=) n.2241T>A c.1606+551T>A (n.1606+551T>A) c.2163T>A (p.Thr721=) c.628-3280T>A (n.628-3280T>A) c.1314T>A (p.Thr438=) c.1767T>A (p.Thr589=) c.169+8055A>T (n.169+8055A>T) c.*124+7854A>T (n.*124+7854A>T) c.*1504T>A (n.*1504T>A) c.1251T>A (p.Thr417=) c.2154T>A (p.Thr718=) c.-940T>A (n.-940T>A) c.1974T>A (p.Thr658=) | ClinVar dbSNP |
2 | g.47800140T>C | CA426121607 | FBXO11,MSH6 | c.1860T>C (p.Thr620=) c.2157T>C (p.Thr719=) n.2241T>C c.1606+551T>C (n.1606+551T>C) c.2163T>C (p.Thr721=) c.628-3280T>C (n.628-3280T>C) c.1314T>C (p.Thr438=) c.1767T>C (p.Thr589=) c.169+8055A>G (n.169+8055A>G) c.*124+7854A>G (n.*124+7854A>G) c.*1504T>C (n.*1504T>C) c.1251T>C (p.Thr417=) c.2154T>C (p.Thr718=) c.-940T>C (n.-940T>C) c.1974T>C (p.Thr658=) | dbSNP gnomAD v4 |
2 | g.47800140T>G | CA426121605 | FBXO11,MSH6 | c.1860T>G (p.Thr620=) c.2157T>G (p.Thr719=) n.2241T>G c.1606+551T>G (n.1606+551T>G) c.2163T>G (p.Thr721=) c.628-3280T>G (n.628-3280T>G) c.1314T>G (p.Thr438=) c.1767T>G (p.Thr589=) c.169+8055A>C (n.169+8055A>C) c.*124+7854A>C (n.*124+7854A>C) c.*1504T>G (n.*1504T>G) c.1251T>G (p.Thr417=) c.2154T>G (p.Thr718=) c.-940T>G (n.-940T>G) c.1974T>G (p.Thr658=) | |
2 | g.47800141A= | CA2496049313 | FBXO11,MSH6 | c.1861A= (p.Thr621=) c.2158A= (p.Thr720=) n.2242A= c.1606+552A= (n.1606+552A=) c.2164A= (p.Thr722=) c.628-3279A= (n.628-3279A=) c.1315A= (p.Thr439=) c.1768A= (p.Thr590=) c.169+8054T= (n.169+8054T=) c.*124+7853T= (n.*124+7853T=) c.*1505A= (n.*1505A=) c.1252A= (p.Thr418=) c.2155A= (p.Thr719=) c.-939A= (n.-939A=) c.1975A= (p.Thr659=) | |
2 | g.47800141A>C | CA346751134 | FBXO11,MSH6 | c.1861A>C (p.Thr621Pro) c.2158A>C (p.Thr720Pro) n.2242A>C c.1606+552A>C (n.1606+552A>C) c.2164A>C (p.Thr722Pro) c.628-3279A>C (n.628-3279A>C) c.1315A>C (p.Thr439Pro) c.1768A>C (p.Thr590Pro) c.169+8054T>G (n.169+8054T>G) c.*124+7853T>G (n.*124+7853T>G) c.*1505A>C (n.*1505A>C) c.1252A>C (p.Thr418Pro) c.2155A>C (p.Thr719Pro) c.-939A>C (n.-939A>C) c.1975A>C (p.Thr659Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800141A>G | CA346751139 | FBXO11,MSH6 | c.1861A>G (p.Thr621Ala) c.2158A>G (p.Thr720Ala) n.2242A>G c.1606+552A>G (n.1606+552A>G) c.2164A>G (p.Thr722Ala) c.628-3279A>G (n.628-3279A>G) c.1315A>G (p.Thr439Ala) c.1768A>G (p.Thr590Ala) c.169+8054T>C (n.169+8054T>C) c.*124+7853T>C (n.*124+7853T>C) c.*1505A>G (n.*1505A>G) c.1252A>G (p.Thr418Ala) c.2155A>G (p.Thr719Ala) c.-939A>G (n.-939A>G) c.1975A>G (p.Thr659Ala) | ClinVar dbSNP |
2 | g.47800141A>T | CA346751136 | FBXO11,MSH6 | c.1861A>T (p.Thr621Ser) c.2158A>T (p.Thr720Ser) n.2242A>T c.1606+552A>T (n.1606+552A>T) c.2164A>T (p.Thr722Ser) c.628-3279A>T (n.628-3279A>T) c.1315A>T (p.Thr439Ser) c.1768A>T (p.Thr590Ser) c.169+8054T>A (n.169+8054T>A) c.*124+7853T>A (n.*124+7853T>A) c.*1505A>T (n.*1505A>T) c.1252A>T (p.Thr418Ser) c.2155A>T (p.Thr719Ser) c.-939A>T (n.-939A>T) c.1975A>T (p.Thr659Ser) | dbSNP |
2 | g.47800142del | CA2695200662 | FBXO11,MSH6 | c.1862del (p.Thr621LysfsTer16) c.2159del (p.Thr720LysfsTer16) n.2243del c.1606+553del (n.1606+553del) c.2165del (p.Thr722LysfsTer16) c.628-3278del (n.628-3278del) c.1316del (p.Thr439LysfsTer16) c.1769del (p.Thr590LysfsTer16) c.169+8053del (n.169+8053del) c.*124+7852del (n.*124+7852del) c.*1506del (n.*1506del) c.1253del (p.Thr418LysfsTer16) c.2156del (p.Thr719LysfsTer16) c.-938del (n.-938del) c.1976del (p.Thr659LysfsTer16) | ClinVar |
2 | g.47800142C>A | CA346751140 | FBXO11,MSH6 | c.1862C>A (p.Thr621Lys) c.2159C>A (p.Thr720Lys) n.2243C>A c.1606+553C>A (n.1606+553C>A) c.2165C>A (p.Thr722Lys) c.628-3278C>A (n.628-3278C>A) c.1316C>A (p.Thr439Lys) c.1769C>A (p.Thr590Lys) c.169+8053G>T (n.169+8053G>T) c.*124+7852G>T (n.*124+7852G>T) c.*1506C>A (n.*1506C>A) c.1253C>A (p.Thr418Lys) c.2156C>A (p.Thr719Lys) c.-938C>A (n.-938C>A) c.1976C>A (p.Thr659Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.47800142C= | CA2496049314 | FBXO11,MSH6 | c.1862C= (p.Thr621=) c.2159C= (p.Thr720=) n.2243C= c.1606+553C= (n.1606+553C=) c.2165C= (p.Thr722=) c.628-3278C= (n.628-3278C=) c.1316C= (p.Thr439=) c.1769C= (p.Thr590=) c.169+8053G= (n.169+8053G=) c.*124+7852G= (n.*124+7852G=) c.*1506C= (n.*1506C=) c.1253C= (p.Thr418=) c.2156C= (p.Thr719=) c.-938C= (n.-938C=) c.1976C= (p.Thr659=) | |
2 | g.47800142C>G | CA346751141 | FBXO11,MSH6 | c.1862C>G (p.Thr621Arg) c.2159C>G (p.Thr720Arg) n.2243C>G c.1606+553C>G (n.1606+553C>G) c.2165C>G (p.Thr722Arg) c.628-3278C>G (n.628-3278C>G) c.1316C>G (p.Thr439Arg) c.1769C>G (p.Thr590Arg) c.169+8053G>C (n.169+8053G>C) c.*124+7852G>C (n.*124+7852G>C) c.*1506C>G (n.*1506C>G) c.1253C>G (p.Thr418Arg) c.2156C>G (p.Thr719Arg) c.-938C>G (n.-938C>G) c.1976C>G (p.Thr659Arg) | ClinVar dbSNP |
2 | g.47800142C>T | CA068511 | FBXO11,MSH6 | c.1862C>T (p.Thr621Ile) c.2159C>T (p.Thr720Ile) n.2243C>T c.1606+553C>T (n.1606+553C>T) c.2165C>T (p.Thr722Ile) c.628-3278C>T (n.628-3278C>T) c.1316C>T (p.Thr439Ile) c.1769C>T (p.Thr590Ile) c.169+8053G>A (n.169+8053G>A) c.*124+7852G>A (n.*124+7852G>A) c.*1506C>T (n.*1506C>T) c.1253C>T (p.Thr418Ile) c.2156C>T (p.Thr719Ile) c.-938C>T (n.-938C>T) c.1976C>T (p.Thr659Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800143A>C | CA426121611 | FBXO11,MSH6 | c.1863A>C (p.Thr621=) c.2160A>C (p.Thr720=) n.2244A>C c.1606+554A>C (n.1606+554A>C) c.2166A>C (p.Thr722=) c.628-3277A>C (n.628-3277A>C) c.1317A>C (p.Thr439=) c.1770A>C (p.Thr590=) c.169+8052T>G (n.169+8052T>G) c.*124+7851T>G (n.*124+7851T>G) c.*1507A>C (n.*1507A>C) c.1254A>C (p.Thr418=) c.2157A>C (p.Thr719=) c.-937A>C (n.-937A>C) c.1977A>C (p.Thr659=) | |
2 | g.47800143A>G | CA426121612 | FBXO11,MSH6 | c.1863A>G (p.Thr621=) c.2160A>G (p.Thr720=) n.2244A>G c.1606+554A>G (n.1606+554A>G) c.2166A>G (p.Thr722=) c.628-3277A>G (n.628-3277A>G) c.1317A>G (p.Thr439=) c.1770A>G (p.Thr590=) c.169+8052T>C (n.169+8052T>C) c.*124+7851T>C (n.*124+7851T>C) c.*1507A>G (n.*1507A>G) c.1254A>G (p.Thr418=) c.2157A>G (p.Thr719=) c.-937A>G (n.-937A>G) c.1977A>G (p.Thr659=) | dbSNP |
2 | g.47800143A>T | CA426121613 | FBXO11,MSH6 | c.1863A>T (p.Thr621=) c.2160A>T (p.Thr720=) n.2244A>T c.1606+554A>T (n.1606+554A>T) c.2166A>T (p.Thr722=) c.628-3277A>T (n.628-3277A>T) c.1317A>T (p.Thr439=) c.1770A>T (p.Thr590=) c.169+8052T>A (n.169+8052T>A) c.*124+7851T>A (n.*124+7851T>A) c.*1507A>T (n.*1507A>T) c.1254A>T (p.Thr418=) c.2157A>T (p.Thr719=) c.-937A>T (n.-937A>T) c.1977A>T (p.Thr659=) | dbSNP |
2 | g.47800144A= | CA2496049315 | FBXO11,MSH6 | c.1864A= (p.Arg622=) c.2161A= (p.Arg721=) n.2245A= c.1606+555A= (n.1606+555A=) c.2167A= (p.Arg723=) c.628-3276A= (n.628-3276A=) c.1318A= (p.Arg440=) c.1771A= (p.Arg591=) c.169+8051T= (n.169+8051T=) c.*124+7850T= (n.*124+7850T=) c.*1508A= (n.*1508A=) c.1255A= (p.Arg419=) c.2158A= (p.Arg720=) c.-936A= (n.-936A=) c.1978A= (p.Arg660=) | |
2 | g.47800144A>C | CA426121617 | FBXO11,MSH6 | c.1864A>C (p.Arg622=) c.2161A>C (p.Arg721=) n.2245A>C c.1606+555A>C (n.1606+555A>C) c.2167A>C (p.Arg723=) c.628-3276A>C (n.628-3276A>C) c.1318A>C (p.Arg440=) c.1771A>C (p.Arg591=) c.169+8051T>G (n.169+8051T>G) c.*124+7850T>G (n.*124+7850T>G) c.*1508A>C (n.*1508A>C) c.1255A>C (p.Arg419=) c.2158A>C (p.Arg720=) c.-936A>C (n.-936A>C) c.1978A>C (p.Arg660=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47800144A>G | CA009782 | FBXO11,MSH6 | c.1864A>G (p.Arg622Gly) c.2161A>G (p.Arg721Gly) n.2245A>G c.1606+555A>G (n.1606+555A>G) c.2167A>G (p.Arg723Gly) c.628-3276A>G (n.628-3276A>G) c.1318A>G (p.Arg440Gly) c.1771A>G (p.Arg591Gly) c.169+8051T>C (n.169+8051T>C) c.*124+7850T>C (n.*124+7850T>C) c.*1508A>G (n.*1508A>G) c.1255A>G (p.Arg419Gly) c.2158A>G (p.Arg720Gly) c.-936A>G (n.-936A>G) c.1978A>G (p.Arg660Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800144A>T | CA346751144 | FBXO11,MSH6 | c.1864A>T (p.Arg622Ter) c.2161A>T (p.Arg721Ter) n.2245A>T c.1606+555A>T (n.1606+555A>T) c.2167A>T (p.Arg723Ter) c.628-3276A>T (n.628-3276A>T) c.1318A>T (p.Arg440Ter) c.1771A>T (p.Arg591Ter) c.169+8051T>A (n.169+8051T>A) c.*124+7850T>A (n.*124+7850T>A) c.*1508A>T (n.*1508A>T) c.1255A>T (p.Arg419Ter) c.2158A>T (p.Arg720Ter) c.-936A>T (n.-936A>T) c.1978A>T (p.Arg660Ter) | ClinVar dbSNP |
2 | g.47800145del | CA2697548114 | FBXO11,MSH6 | c.1865del (p.Arg622AsnfsTer15) c.2162del (p.Arg721AsnfsTer15) n.2246del c.1606+556del (n.1606+556del) c.2168del (p.Arg723AsnfsTer15) c.628-3275del (n.628-3275del) c.1319del (p.Arg440AsnfsTer15) c.1772del (p.Arg591AsnfsTer15) c.169+8050del (n.169+8050del) c.*124+7849del (n.*124+7849del) c.*1509del (n.*1509del) c.1256del (p.Arg419AsnfsTer15) c.2159del (p.Arg720AsnfsTer15) c.-935del (n.-935del) c.1979del (p.Arg660AsnfsTer15) | ClinVar |
2 | g.47800145G>A | CA346751145 | FBXO11,MSH6 | c.1865G>A (p.Arg622Lys) c.2162G>A (p.Arg721Lys) n.2246G>A c.1606+556G>A (n.1606+556G>A) c.2168G>A (p.Arg723Lys) c.628-3275G>A (n.628-3275G>A) c.1319G>A (p.Arg440Lys) c.1772G>A (p.Arg591Lys) c.169+8050C>T (n.169+8050C>T) c.*124+7849C>T (n.*124+7849C>T) c.*1509G>A (n.*1509G>A) c.1256G>A (p.Arg419Lys) c.2159G>A (p.Arg720Lys) c.-935G>A (n.-935G>A) c.1979G>A (p.Arg660Lys) | ClinVar dbSNP |
2 | g.47800145G>C | CA346751146 | FBXO11,MSH6 | c.1865G>C (p.Arg622Thr) c.2162G>C (p.Arg721Thr) n.2246G>C c.1606+556G>C (n.1606+556G>C) c.2168G>C (p.Arg723Thr) c.628-3275G>C (n.628-3275G>C) c.1319G>C (p.Arg440Thr) c.1772G>C (p.Arg591Thr) c.169+8050C>G (n.169+8050C>G) c.*124+7849C>G (n.*124+7849C>G) c.*1509G>C (n.*1509G>C) c.1256G>C (p.Arg419Thr) c.2159G>C (p.Arg720Thr) c.-935G>C (n.-935G>C) c.1979G>C (p.Arg660Thr) | ClinVar dbSNP |
2 | g.47800145G= | CA2496049316 | FBXO11,MSH6 | c.1865G= (p.Arg622=) c.2162G= (p.Arg721=) n.2246G= c.1606+556G= (n.1606+556G=) c.2168G= (p.Arg723=) c.628-3275G= (n.628-3275G=) c.1319G= (p.Arg440=) c.1772G= (p.Arg591=) c.169+8050C= (n.169+8050C=) c.*124+7849C= (n.*124+7849C=) c.*1509G= (n.*1509G=) c.1256G= (p.Arg419=) c.2159G= (p.Arg720=) c.-935G= (n.-935G=) c.1979G= (p.Arg660=) | |
2 | g.47800145G>T | CA10578095 | FBXO11,MSH6 | c.1865G>T (p.Arg622Ile) c.2162G>T (p.Arg721Ile) n.2246G>T c.1606+556G>T (n.1606+556G>T) c.2168G>T (p.Arg723Ile) c.628-3275G>T (n.628-3275G>T) c.1319G>T (p.Arg440Ile) c.1772G>T (p.Arg591Ile) c.169+8050C>A (n.169+8050C>A) c.*124+7849C>A (n.*124+7849C>A) c.*1509G>T (n.*1509G>T) c.1256G>T (p.Arg419Ile) c.2159G>T (p.Arg720Ile) c.-935G>T (n.-935G>T) c.1979G>T (p.Arg660Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.47800146A= | CA2496049317 | FBXO11,MSH6 | c.1866A= (p.Arg622=) c.2163A= (p.Arg721=) n.2247A= c.1606+557A= (n.1606+557A=) c.2169A= (p.Arg723=) c.628-3274A= (n.628-3274A=) c.1320A= (p.Arg440=) c.1773A= (p.Arg591=) c.169+8049T= (n.169+8049T=) c.*124+7848T= (n.*124+7848T=) c.*1510A= (n.*1510A=) c.1257A= (p.Arg419=) c.2160A= (p.Arg720=) c.-934A= (n.-934A=) c.1980A= (p.Arg660=) | |
2 | g.47800146A>C | CA346751147 | FBXO11,MSH6 | c.1866A>C (p.Arg622Ser) c.2163A>C (p.Arg721Ser) n.2247A>C c.1606+557A>C (n.1606+557A>C) c.2169A>C (p.Arg723Ser) c.628-3274A>C (n.628-3274A>C) c.1320A>C (p.Arg440Ser) c.1773A>C (p.Arg591Ser) c.169+8049T>G (n.169+8049T>G) c.*124+7848T>G (n.*124+7848T>G) c.*1510A>C (n.*1510A>C) c.1257A>C (p.Arg419Ser) c.2160A>C (p.Arg720Ser) c.-934A>C (n.-934A>C) c.1980A>C (p.Arg660Ser) | dbSNP |
2 | g.47800146A>G | CA426121623 | FBXO11,MSH6 | c.1866A>G (p.Arg622=) c.2163A>G (p.Arg721=) n.2247A>G c.1606+557A>G (n.1606+557A>G) c.2169A>G (p.Arg723=) c.628-3274A>G (n.628-3274A>G) c.1320A>G (p.Arg440=) c.1773A>G (p.Arg591=) c.169+8049T>C (n.169+8049T>C) c.*124+7848T>C (n.*124+7848T>C) c.*1510A>G (n.*1510A>G) c.1257A>G (p.Arg419=) c.2160A>G (p.Arg720=) c.-934A>G (n.-934A>G) c.1980A>G (p.Arg660=) | ClinVar gnomAD v4 |
2 | g.47800146A>T | CA068517 | FBXO11,MSH6 | c.1866A>T (p.Arg622Ser) c.2163A>T (p.Arg721Ser) n.2247A>T c.1606+557A>T (n.1606+557A>T) c.2169A>T (p.Arg723Ser) c.628-3274A>T (n.628-3274A>T) c.1320A>T (p.Arg440Ser) c.1773A>T (p.Arg591Ser) c.169+8049T>A (n.169+8049T>A) c.*124+7848T>A (n.*124+7848T>A) c.*1510A>T (n.*1510A>T) c.1257A>T (p.Arg419Ser) c.2160A>T (p.Arg720Ser) c.-934A>T (n.-934A>T) c.1980A>T (p.Arg660Ser) | dbSNP ExAC |
2 | g.47800146_47800151delinsATCTGG | CA2496049318 | FBXO11,MSH6 | c.1866_1871delinsATCTGG (p.Arg622=) c.2163_2168delinsATCTGG (p.Arg721=) n.2247_2252delinsATCTGG c.1606+557_1606+562delinsATCTGG (n.1606+557_1606+562delinsATCTGG) c.2169_2174delinsATCTGG (p.Arg723=) c.628-3274_628-3269delinsATCTGG (n.628-3274_628-3269delinsATCTGG) c.1320_1325delinsATCTGG (p.Arg440=) c.1773_1778delinsATCTGG (p.Arg591=) c.169+8044_169+8049delinsCCAGAT (n.169+8044_169+8049delinsCCAGAT) c.*124+7843_*124+7848delinsCCAGAT (n.*124+7843_*124+7848delinsCCAGAT) c.*1510_*1515delinsATCTGG (n.*1510_*1515delinsATCTGG) c.1257_1262delinsATCTGG (p.Arg419=) c.2160_2165delinsATCTGG (p.Arg720=) c.-934_-929delinsATCTGG (n.-934_-929delinsATCTGG) c.1980_1985delinsATCTGG (p.Arg660=) | |
2 | g.47800147T>A | CA346751153 | FBXO11,MSH6 | c.1867T>A (p.Ser623Thr) c.2164T>A (p.Ser722Thr) n.2248T>A c.1606+558T>A (n.1606+558T>A) c.2170T>A (p.Ser724Thr) c.628-3273T>A (n.628-3273T>A) c.1321T>A (p.Ser441Thr) c.1774T>A (p.Ser592Thr) c.169+8048A>T (n.169+8048A>T) c.*124+7847A>T (n.*124+7847A>T) c.*1511T>A (n.*1511T>A) c.1258T>A (p.Ser420Thr) c.2161T>A (p.Ser721Thr) c.-933T>A (n.-933T>A) c.1981T>A (p.Ser661Thr) | dbSNP |
2 | g.47800147T>C | CA346751151 | FBXO11,MSH6 | c.1867T>C (p.Ser623Pro) c.2164T>C (p.Ser722Pro) n.2248T>C c.1606+558T>C (n.1606+558T>C) c.2170T>C (p.Ser724Pro) c.628-3273T>C (n.628-3273T>C) c.1321T>C (p.Ser441Pro) c.1774T>C (p.Ser592Pro) c.169+8048A>G (n.169+8048A>G) c.*124+7847A>G (n.*124+7847A>G) c.*1511T>C (n.*1511T>C) c.1258T>C (p.Ser420Pro) c.2161T>C (p.Ser721Pro) c.-933T>C (n.-933T>C) c.1981T>C (p.Ser661Pro) | dbSNP |
2 | g.47800147T>G | CA346751149 | FBXO11,MSH6 | c.1867T>G (p.Ser623Ala) c.2164T>G (p.Ser722Ala) n.2248T>G c.1606+558T>G (n.1606+558T>G) c.2170T>G (p.Ser724Ala) c.628-3273T>G (n.628-3273T>G) c.1321T>G (p.Ser441Ala) c.1774T>G (p.Ser592Ala) c.169+8048A>C (n.169+8048A>C) c.*124+7847A>C (n.*124+7847A>C) c.*1511T>G (n.*1511T>G) c.1258T>G (p.Ser420Ala) c.2161T>G (p.Ser721Ala) c.-933T>G (n.-933T>G) c.1981T>G (p.Ser661Ala) | |
2 | g.47800148_47800152del | CA645369267 | FBXO11,MSH6 | c.1868_1872del (p.Ser623CysfsTer?) c.2165_2169del (p.Ser722CysfsTer?) n.2249_2253del c.1606+559_1606+563del (n.1606+559_1606+563del) c.2171_2175del (p.Ser724CysfsTer?) c.628-3272_628-3268del (n.628-3272_628-3268del) c.1322_1326del (p.Ser441CysfsTer?) c.1775_1779del (p.Ser592CysfsTer?) c.169+8044_169+8048del (n.169+8044_169+8048del) c.*124+7843_*124+7847del (n.*124+7843_*124+7847del) c.*1512_*1516del (n.*1512_*1516del) c.1259_1263del (p.Ser420CysfsTer?) c.2162_2166del (p.Ser721CysfsTer?) c.-932_-928del (n.-932_-928del) c.1982_1986del (p.Ser661CysfsTer?) | ClinVar dbSNP |
2 | g.47800147_47800168delinsTCTGGTGCTATCTTCACCAAAG | CA2496049319 | FBXO11,MSH6 | c.1867_1888delinsTCTGGTGCTATCTTCACCAAAG (p.Ser623=) c.2164_2185delinsTCTGGTGCTATCTTCACCAAAG (p.Ser722=) n.2248_2269delinsTCTGGTGCTATCTTCACCAAAG c.1606+558_1606+579delinsTCTGGTGCTATCTTCACCAAAG (n.1606+558_1606+579delinsTCTGGTGCTATCTTCACCAAAG) c.2170_2191delinsTCTGGTGCTATCTTCACCAAAG (p.Ser724=) c.628-3273_628-3252delinsTCTGGTGCTATCTTCACCAAAG (n.628-3273_628-3252delinsTCTGGTGCTATCTTCACCAAAG) c.1321_1342delinsTCTGGTGCTATCTTCACCAAAG (p.Ser441=) c.1774_1795delinsTCTGGTGCTATCTTCACCAAAG (p.Ser592=) c.169+8027_169+8048delinsCTTTGGTGAAGATAGCACCAGA (n.169+8027_169+8048delinsCTTTGGTGAAGATAGCACCAGA) c.*124+7826_*124+7847delinsCTTTGGTGAAGATAGCACCAGA (n.*124+7826_*124+7847delinsCTTTGGTGAAGATAGCACCAGA) c.*1511_*1532delinsTCTGGTGCTATCTTCACCAAAG (n.*1511_*1532delinsTCTGGTGCTATCTTCACCAAAG) c.1258_1279delinsTCTGGTGCTATCTTCACCAAAG (p.Ser420=) c.2161_2182delinsTCTGGTGCTATCTTCACCAAAG (p.Ser721=) c.-933_-912delinsTCTGGTGCTATCTTCACCAAAG (n.-933_-912delinsTCTGGTGCTATCTTCACCAAAG) c.1981_2002delinsTCTGGTGCTATCTTCACCAAAG (p.Ser661=) | |
2 | g.47800148C>A | CA068523 | FBXO11,MSH6 | c.1868C>A (p.Ser623Tyr) c.2165C>A (p.Ser722Tyr) n.2249C>A c.1606+559C>A (n.1606+559C>A) c.2171C>A (p.Ser724Tyr) c.628-3272C>A (n.628-3272C>A) c.1322C>A (p.Ser441Tyr) c.1775C>A (p.Ser592Tyr) c.169+8047G>T (n.169+8047G>T) c.*124+7846G>T (n.*124+7846G>T) c.*1512C>A (n.*1512C>A) c.1259C>A (p.Ser420Tyr) c.2162C>A (p.Ser721Tyr) c.-932C>A (n.-932C>A) c.1982C>A (p.Ser661Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800148C= | CA2496049320 | FBXO11,MSH6 | c.1868C= (p.Ser623=) c.2165C= (p.Ser722=) n.2249C= c.1606+559C= (n.1606+559C=) c.2171C= (p.Ser724=) c.628-3272C= (n.628-3272C=) c.1322C= (p.Ser441=) c.1775C= (p.Ser592=) c.169+8047G= (n.169+8047G=) c.*124+7846G= (n.*124+7846G=) c.*1512C= (n.*1512C=) c.1259C= (p.Ser420=) c.2162C= (p.Ser721=) c.-932C= (n.-932C=) c.1982C= (p.Ser661=) | |
2 | g.47800148C>G | CA346751157 | FBXO11,MSH6 | c.1868C>G (p.Ser623Cys) c.2165C>G (p.Ser722Cys) n.2249C>G c.1606+559C>G (n.1606+559C>G) c.2171C>G (p.Ser724Cys) c.628-3272C>G (n.628-3272C>G) c.1322C>G (p.Ser441Cys) c.1775C>G (p.Ser592Cys) c.169+8047G>C (n.169+8047G>C) c.*124+7846G>C (n.*124+7846G>C) c.*1512C>G (n.*1512C>G) c.1259C>G (p.Ser420Cys) c.2162C>G (p.Ser721Cys) c.-932C>G (n.-932C>G) c.1982C>G (p.Ser661Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800148C>T | CA346751159 | FBXO11,MSH6 | c.1868C>T (p.Ser623Phe) c.2165C>T (p.Ser722Phe) n.2249C>T c.1606+559C>T (n.1606+559C>T) c.2171C>T (p.Ser724Phe) c.628-3272C>T (n.628-3272C>T) c.1322C>T (p.Ser441Phe) c.1775C>T (p.Ser592Phe) c.169+8047G>A (n.169+8047G>A) c.*124+7846G>A (n.*124+7846G>A) c.*1512C>T (n.*1512C>T) c.1259C>T (p.Ser420Phe) c.2162C>T (p.Ser721Phe) c.-932C>T (n.-932C>T) c.1982C>T (p.Ser661Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.47800148dup | CA2580067780 | FBXO11,MSH6 | c.1868dup (p.Gly624TrpfsTer?) c.2165dup (p.Gly723TrpfsTer?) n.2249dup c.1606+559dup (n.1606+559dup) c.2171dup (p.Gly725TrpfsTer?) c.628-3272dup (n.628-3272dup) c.1322dup (p.Gly442TrpfsTer?) c.1775dup (p.Gly593TrpfsTer?) c.169+8047dup (n.169+8047dup) c.*124+7846dup (n.*124+7846dup) c.*1512dup (n.*1512dup) c.1259dup (p.Gly421TrpfsTer?) c.2162dup (p.Gly722TrpfsTer?) c.-932dup (n.-932dup) c.1982dup (p.Gly662TrpfsTer?) | ClinVar |
2 | g.47800149_47800169del | CA46710486 | FBXO11,MSH6 | c.1869_1889del (p.Gly624_Ala630del) c.2166_2186del (p.Gly723_Ala729del) n.2250_2270del c.1606+560_1606+580del (n.1606+560_1606+580del) c.2172_2192del (p.Gly725_Ala731del) c.628-3271_628-3251del (n.628-3271_628-3251del) c.1323_1343del (p.Gly442_Ala448del) c.1776_1796del (p.Gly593_Ala599del) c.169+8027_169+8047del (n.169+8027_169+8047del) c.*124+7826_*124+7846del (n.*124+7826_*124+7846del) c.*1513_*1533del (n.*1513_*1533del) c.1260_1280del (p.Gly421_Ala427del) c.2163_2183del (p.Gly722_Ala728del) c.-931_-911del (n.-931_-911del) c.1983_2003del (p.Gly662_Ala668del) | dbSNP |
2 | g.47800149T>A | CA426121630 | FBXO11,MSH6 | c.1869T>A (p.Ser623=) c.2166T>A (p.Ser722=) n.2250T>A c.1606+560T>A (n.1606+560T>A) c.2172T>A (p.Ser724=) c.628-3271T>A (n.628-3271T>A) c.1323T>A (p.Ser441=) c.1776T>A (p.Ser592=) c.169+8046A>T (n.169+8046A>T) c.*124+7845A>T (n.*124+7845A>T) c.*1513T>A (n.*1513T>A) c.1260T>A (p.Ser420=) c.2163T>A (p.Ser721=) c.-931T>A (n.-931T>A) c.1983T>A (p.Ser661=) | |
2 | g.47800149T>C | CA426121629 | FBXO11,MSH6 | c.1869T>C (p.Ser623=) c.2166T>C (p.Ser722=) n.2250T>C c.1606+560T>C (n.1606+560T>C) c.2172T>C (p.Ser724=) c.628-3271T>C (n.628-3271T>C) c.1323T>C (p.Ser441=) c.1776T>C (p.Ser592=) c.169+8046A>G (n.169+8046A>G) c.*124+7845A>G (n.*124+7845A>G) c.*1513T>C (n.*1513T>C) c.1260T>C (p.Ser420=) c.2163T>C (p.Ser721=) c.-931T>C (n.-931T>C) c.1983T>C (p.Ser661=) | gnomAD v4 |
2 | g.47800149T>G | CA426121628 | FBXO11,MSH6 | c.1869T>G (p.Ser623=) c.2166T>G (p.Ser722=) n.2250T>G c.1606+560T>G (n.1606+560T>G) c.2172T>G (p.Ser724=) c.628-3271T>G (n.628-3271T>G) c.1323T>G (p.Ser441=) c.1776T>G (p.Ser592=) c.169+8046A>C (n.169+8046A>C) c.*124+7845A>C (n.*124+7845A>C) c.*1513T>G (n.*1513T>G) c.1260T>G (p.Ser420=) c.2163T>G (p.Ser721=) c.-931T>G (n.-931T>G) c.1983T>G (p.Ser661=) | gnomAD v4 |
2 | g.47800150G>A | CA346751162 | FBXO11,MSH6 | c.1870G>A (p.Gly624Ser) c.2167G>A (p.Gly723Ser) n.2251G>A c.1606+561G>A (n.1606+561G>A) c.2173G>A (p.Gly725Ser) c.628-3270G>A (n.628-3270G>A) c.1324G>A (p.Gly442Ser) c.1777G>A (p.Gly593Ser) c.169+8045C>T (n.169+8045C>T) c.*124+7844C>T (n.*124+7844C>T) c.*1514G>A (n.*1514G>A) c.1261G>A (p.Gly421Ser) c.2164G>A (p.Gly722Ser) c.-930G>A (n.-930G>A) c.1984G>A (p.Gly662Ser) | ClinVar dbSNP |
2 | g.47800150G>C | CA16617669 | FBXO11,MSH6 | c.1870G>C (p.Gly624Arg) c.2167G>C (p.Gly723Arg) n.2251G>C c.1606+561G>C (n.1606+561G>C) c.2173G>C (p.Gly725Arg) c.628-3270G>C (n.628-3270G>C) c.1324G>C (p.Gly442Arg) c.1777G>C (p.Gly593Arg) c.169+8045C>G (n.169+8045C>G) c.*124+7844C>G (n.*124+7844C>G) c.*1514G>C (n.*1514G>C) c.1261G>C (p.Gly421Arg) c.2164G>C (p.Gly722Arg) c.-930G>C (n.-930G>C) c.1984G>C (p.Gly662Arg) | ClinVar dbSNP |
2 | g.47800150G= | CA2496049321 | FBXO11,MSH6 | c.1870G= (p.Gly624=) c.2167G= (p.Gly723=) n.2251G= c.1606+561G= (n.1606+561G=) c.2173G= (p.Gly725=) c.628-3270G= (n.628-3270G=) c.1324G= (p.Gly442=) c.1777G= (p.Gly593=) c.169+8045C= (n.169+8045C=) c.*124+7844C= (n.*124+7844C=) c.*1514G= (n.*1514G=) c.1261G= (p.Gly421=) c.2164G= (p.Gly722=) c.-930G= (n.-930G=) c.1984G= (p.Gly662=) | |
2 | g.47800150G>T | CA346751164 | FBXO11,MSH6 | c.1870G>T (p.Gly624Cys) c.2167G>T (p.Gly723Cys) n.2251G>T c.1606+561G>T (n.1606+561G>T) c.2173G>T (p.Gly725Cys) c.628-3270G>T (n.628-3270G>T) c.1324G>T (p.Gly442Cys) c.1777G>T (p.Gly593Cys) c.169+8045C>A (n.169+8045C>A) c.*124+7844C>A (n.*124+7844C>A) c.*1514G>T (n.*1514G>T) c.1261G>T (p.Gly421Cys) c.2164G>T (p.Gly722Cys) c.-930G>T (n.-930G>T) c.1984G>T (p.Gly662Cys) | dbSNP |
2 | g.47800151G>A | CA346751166 | FBXO11,MSH6 | c.1871G>A (p.Gly624Asp) c.2168G>A (p.Gly723Asp) n.2252G>A c.1606+562G>A (n.1606+562G>A) c.2174G>A (p.Gly725Asp) c.628-3269G>A (n.628-3269G>A) c.1325G>A (p.Gly442Asp) c.1778G>A (p.Gly593Asp) c.169+8044C>T (n.169+8044C>T) c.*124+7843C>T (n.*124+7843C>T) c.*1515G>A (n.*1515G>A) c.1262G>A (p.Gly421Asp) c.2165G>A (p.Gly722Asp) c.-929G>A (n.-929G>A) c.1985G>A (p.Gly662Asp) | ClinVar dbSNP |
2 | g.47800151G>C | CA009788 | FBXO11,MSH6 | c.1871G>C (p.Gly624Ala) c.2168G>C (p.Gly723Ala) n.2252G>C c.1606+562G>C (n.1606+562G>C) c.2174G>C (p.Gly725Ala) c.628-3269G>C (n.628-3269G>C) c.1325G>C (p.Gly442Ala) c.1778G>C (p.Gly593Ala) c.169+8044C>G (n.169+8044C>G) c.*124+7843C>G (n.*124+7843C>G) c.*1515G>C (n.*1515G>C) c.1262G>C (p.Gly421Ala) c.2165G>C (p.Gly722Ala) c.-929G>C (n.-929G>C) c.1985G>C (p.Gly662Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800151G= | CA2496049322 | FBXO11,MSH6 | c.1871G= (p.Gly624=) c.2168G= (p.Gly723=) n.2252G= c.1606+562G= (n.1606+562G=) c.2174G= (p.Gly725=) c.628-3269G= (n.628-3269G=) c.1325G= (p.Gly442=) c.1778G= (p.Gly593=) c.169+8044C= (n.169+8044C=) c.*124+7843C= (n.*124+7843C=) c.*1515G= (n.*1515G=) c.1262G= (p.Gly421=) c.2165G= (p.Gly722=) c.-929G= (n.-929G=) c.1985G= (p.Gly662=) | |
2 | g.47800151G>T | CA346751169 | FBXO11,MSH6 | c.1871G>T (p.Gly624Val) c.2168G>T (p.Gly723Val) n.2252G>T c.1606+562G>T (n.1606+562G>T) c.2174G>T (p.Gly725Val) c.628-3269G>T (n.628-3269G>T) c.1325G>T (p.Gly442Val) c.1778G>T (p.Gly593Val) c.169+8044C>A (n.169+8044C>A) c.*124+7843C>A (n.*124+7843C>A) c.*1515G>T (n.*1515G>T) c.1262G>T (p.Gly421Val) c.2165G>T (p.Gly722Val) c.-929G>T (n.-929G>T) c.1985G>T (p.Gly662Val) | ClinVar dbSNP |
2 | g.47800151_47800152insA | CA2749799184 | FBXO11,MSH6 | c.1871_1872insA (p.Ala625CysfsTer?) c.2168_2169insA (p.Ala724CysfsTer?) n.2252_2253insA c.1606+562_1606+563insA (n.1606+562_1606+563insA) c.2174_2175insA (p.Ala726CysfsTer?) c.628-3269_628-3268insA (n.628-3269_628-3268insA) c.1325_1326insA (p.Ala443CysfsTer?) c.1778_1779insA (p.Ala594CysfsTer?) c.169+8043_169+8044insT (n.169+8043_169+8044insT) c.*124+7842_*124+7843insT (n.*124+7842_*124+7843insT) c.*1515_*1516insA (n.*1515_*1516insA) c.1262_1263insA (p.Ala422CysfsTer?) c.2165_2166insA (p.Ala723CysfsTer?) c.-929_-928insA (n.-929_-928insA) c.1985_1986insA (p.Ala663CysfsTer?) | |
2 | g.47800152T>A | CA426121638 | FBXO11,MSH6 | c.1872T>A (p.Gly624=) c.2169T>A (p.Gly723=) n.2253T>A c.1606+563T>A (n.1606+563T>A) c.2175T>A (p.Gly725=) c.628-3268T>A (n.628-3268T>A) c.1326T>A (p.Gly442=) c.1779T>A (p.Gly593=) c.169+8043A>T (n.169+8043A>T) c.*124+7842A>T (n.*124+7842A>T) c.*1516T>A (n.*1516T>A) c.1263T>A (p.Gly421=) c.2166T>A (p.Gly722=) c.-928T>A (n.-928T>A) c.1986T>A (p.Gly662=) | ClinVar |
2 | g.47800152T>C | CA068534 | FBXO11,MSH6 | c.1872T>C (p.Gly624=) c.2169T>C (p.Gly723=) n.2253T>C c.1606+563T>C (n.1606+563T>C) c.2175T>C (p.Gly725=) c.628-3268T>C (n.628-3268T>C) c.1326T>C (p.Gly442=) c.1779T>C (p.Gly593=) c.169+8043A>G (n.169+8043A>G) c.*124+7842A>G (n.*124+7842A>G) c.*1516T>C (n.*1516T>C) c.1263T>C (p.Gly421=) c.2166T>C (p.Gly722=) c.-928T>C (n.-928T>C) c.1986T>C (p.Gly662=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800152T>G | CA16610904 | FBXO11,MSH6 | c.1872T>G (p.Gly624=) c.2169T>G (p.Gly723=) n.2253T>G c.1606+563T>G (n.1606+563T>G) c.2175T>G (p.Gly725=) c.628-3268T>G (n.628-3268T>G) c.1326T>G (p.Gly442=) c.1779T>G (p.Gly593=) c.169+8043A>C (n.169+8043A>C) c.*124+7842A>C (n.*124+7842A>C) c.*1516T>G (n.*1516T>G) c.1263T>G (p.Gly421=) c.2166T>G (p.Gly722=) c.-928T>G (n.-928T>G) c.1986T>G (p.Gly662=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47800152T= | CA2496049323 | FBXO11,MSH6 | c.1872T= (p.Gly624=) c.2169T= (p.Gly723=) n.2253T= c.1606+563T= (n.1606+563T=) c.2175T= (p.Gly725=) c.628-3268T= (n.628-3268T=) c.1326T= (p.Gly442=) c.1779T= (p.Gly593=) c.169+8043A= (n.169+8043A=) c.*124+7842A= (n.*124+7842A=) c.*1516T= (n.*1516T=) c.1263T= (p.Gly421=) c.2166T= (p.Gly722=) c.-928T= (n.-928T=) c.1986T= (p.Gly662=) | |
2 | g.47800153G>A | CA346751174 | FBXO11,MSH6 | c.1873G>A (p.Ala625Thr) c.2170G>A (p.Ala724Thr) n.2254G>A c.1606+564G>A (n.1606+564G>A) c.2176G>A (p.Ala726Thr) c.628-3267G>A (n.628-3267G>A) c.1327G>A (p.Ala443Thr) c.1780G>A (p.Ala594Thr) c.169+8042C>T (n.169+8042C>T) c.*124+7841C>T (n.*124+7841C>T) c.*1517G>A (n.*1517G>A) c.1264G>A (p.Ala422Thr) c.2167G>A (p.Ala723Thr) c.-927G>A (n.-927G>A) c.1987G>A (p.Ala663Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.47800153G>C | CA346751173 | FBXO11,MSH6 | c.1873G>C (p.Ala625Pro) c.2170G>C (p.Ala724Pro) n.2254G>C c.1606+564G>C (n.1606+564G>C) c.2176G>C (p.Ala726Pro) c.628-3267G>C (n.628-3267G>C) c.1327G>C (p.Ala443Pro) c.1780G>C (p.Ala594Pro) c.169+8042C>G (n.169+8042C>G) c.*124+7841C>G (n.*124+7841C>G) c.*1517G>C (n.*1517G>C) c.1264G>C (p.Ala422Pro) c.2167G>C (p.Ala723Pro) c.-927G>C (n.-927G>C) c.1987G>C (p.Ala663Pro) | dbSNP |
2 | g.47800153G= | CA2496049324 | FBXO11,MSH6 | c.1873G= (p.Ala625=) c.2170G= (p.Ala724=) n.2254G= c.1606+564G= (n.1606+564G=) c.2176G= (p.Ala726=) c.628-3267G= (n.628-3267G=) c.1327G= (p.Ala443=) c.1780G= (p.Ala594=) c.169+8042C= (n.169+8042C=) c.*124+7841C= (n.*124+7841C=) c.*1517G= (n.*1517G=) c.1264G= (p.Ala422=) c.2167G= (p.Ala723=) c.-927G= (n.-927G=) c.1987G= (p.Ala663=) | |
2 | g.47800153G>T | CA346751172 | FBXO11,MSH6 | c.1873G>T (p.Ala625Ser) c.2170G>T (p.Ala724Ser) n.2254G>T c.1606+564G>T (n.1606+564G>T) c.2176G>T (p.Ala726Ser) c.628-3267G>T (n.628-3267G>T) c.1327G>T (p.Ala443Ser) c.1780G>T (p.Ala594Ser) c.169+8042C>A (n.169+8042C>A) c.*124+7841C>A (n.*124+7841C>A) c.*1517G>T (n.*1517G>T) c.1264G>T (p.Ala422Ser) c.2167G>T (p.Ala723Ser) c.-927G>T (n.-927G>T) c.1987G>T (p.Ala663Ser) | dbSNP |
2 | g.47800154C>A | CA346751176 | FBXO11,MSH6 | c.1874C>A (p.Ala625Asp) c.2171C>A (p.Ala724Asp) n.2255C>A c.1606+565C>A (n.1606+565C>A) c.2177C>A (p.Ala726Asp) c.628-3266C>A (n.628-3266C>A) c.1328C>A (p.Ala443Asp) c.1781C>A (p.Ala594Asp) c.169+8041G>T (n.169+8041G>T) c.*124+7840G>T (n.*124+7840G>T) c.*1518C>A (n.*1518C>A) c.1265C>A (p.Ala422Asp) c.2168C>A (p.Ala723Asp) c.-926C>A (n.-926C>A) c.1988C>A (p.Ala663Asp) | dbSNP |
2 | g.47800154C= | CA2496049325 | FBXO11,MSH6 | c.1874C= (p.Ala625=) c.2171C= (p.Ala724=) n.2255C= c.1606+565C= (n.1606+565C=) c.2177C= (p.Ala726=) c.628-3266C= (n.628-3266C=) c.1328C= (p.Ala443=) c.1781C= (p.Ala594=) c.169+8041G= (n.169+8041G=) c.*124+7840G= (n.*124+7840G=) c.*1518C= (n.*1518C=) c.1265C= (p.Ala422=) c.2168C= (p.Ala723=) c.-926C= (n.-926C=) c.1988C= (p.Ala663=) | |
2 | g.47800154C>G | CA009795 | FBXO11,MSH6 | c.1874C>G (p.Ala625Gly) c.2171C>G (p.Ala724Gly) n.2255C>G c.1606+565C>G (n.1606+565C>G) c.2177C>G (p.Ala726Gly) c.628-3266C>G (n.628-3266C>G) c.1328C>G (p.Ala443Gly) c.1781C>G (p.Ala594Gly) c.169+8041G>C (n.169+8041G>C) c.*124+7840G>C (n.*124+7840G>C) c.*1518C>G (n.*1518C>G) c.1265C>G (p.Ala422Gly) c.2168C>G (p.Ala723Gly) c.-926C>G (n.-926C>G) c.1988C>G (p.Ala663Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800154C>T | CA068539 | FBXO11,MSH6 | c.1874C>T (p.Ala625Val) c.2171C>T (p.Ala724Val) n.2255C>T c.1606+565C>T (n.1606+565C>T) c.2177C>T (p.Ala726Val) c.628-3266C>T (n.628-3266C>T) c.1328C>T (p.Ala443Val) c.1781C>T (p.Ala594Val) c.169+8041G>A (n.169+8041G>A) c.*124+7840G>A (n.*124+7840G>A) c.*1518C>T (n.*1518C>T) c.1265C>T (p.Ala422Val) c.2168C>T (p.Ala723Val) c.-926C>T (n.-926C>T) c.1988C>T (p.Ala663Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800155T>A | CA426121646 | FBXO11,MSH6 | c.1875T>A (p.Ala625=) c.2172T>A (p.Ala724=) n.2256T>A c.1606+566T>A (n.1606+566T>A) c.2178T>A (p.Ala726=) c.628-3265T>A (n.628-3265T>A) c.1329T>A (p.Ala443=) c.1782T>A (p.Ala594=) c.169+8040A>T (n.169+8040A>T) c.*124+7839A>T (n.*124+7839A>T) c.*1519T>A (n.*1519T>A) c.1266T>A (p.Ala422=) c.2169T>A (p.Ala723=) c.-925T>A (n.-925T>A) c.1989T>A (p.Ala663=) | dbSNP |
2 | g.47800155T>C | CA426121648 | FBXO11,MSH6 | c.1875T>C (p.Ala625=) c.2172T>C (p.Ala724=) n.2256T>C c.1606+566T>C (n.1606+566T>C) c.2178T>C (p.Ala726=) c.628-3265T>C (n.628-3265T>C) c.1329T>C (p.Ala443=) c.1782T>C (p.Ala594=) c.169+8040A>G (n.169+8040A>G) c.*124+7839A>G (n.*124+7839A>G) c.*1519T>C (n.*1519T>C) c.1266T>C (p.Ala422=) c.2169T>C (p.Ala723=) c.-925T>C (n.-925T>C) c.1989T>C (p.Ala663=) | ClinVar dbSNP |
2 | g.47800155T>G | CA426121649 | FBXO11,MSH6 | c.1875T>G (p.Ala625=) c.2172T>G (p.Ala724=) n.2256T>G c.1606+566T>G (n.1606+566T>G) c.2178T>G (p.Ala726=) c.628-3265T>G (n.628-3265T>G) c.1329T>G (p.Ala443=) c.1782T>G (p.Ala594=) c.169+8040A>C (n.169+8040A>C) c.*124+7839A>C (n.*124+7839A>C) c.*1519T>G (n.*1519T>G) c.1266T>G (p.Ala422=) c.2169T>G (p.Ala723=) c.-925T>G (n.-925T>G) c.1989T>G (p.Ala663=) | ClinVar dbSNP gnomAD v4 |
2 | g.47800155T= | CA2496049327 | FBXO11,MSH6 | c.1875T= (p.Ala625=) c.2172T= (p.Ala724=) n.2256T= c.1606+566T= (n.1606+566T=) c.2178T= (p.Ala726=) c.628-3265T= (n.628-3265T=) c.1329T= (p.Ala443=) c.1782T= (p.Ala594=) c.169+8040A= (n.169+8040A=) c.*124+7839A= (n.*124+7839A=) c.*1519T= (n.*1519T=) c.1266T= (p.Ala422=) c.2169T= (p.Ala723=) c.-925T= (n.-925T=) c.1989T= (p.Ala663=) | |
2 | g.47800156del | CA2749799187 | FBXO11,MSH6 | c.1876del (p.Ile626SerfsTer11) c.2173del (p.Ile725SerfsTer11) n.2257del c.1606+567del (n.1606+567del) c.2179del (p.Ile727SerfsTer11) c.628-3264del (n.628-3264del) c.1330del (p.Ile444SerfsTer11) c.1783del (p.Ile595SerfsTer11) c.169+8039del (n.169+8039del) c.*124+7838del (n.*124+7838del) c.*1520del (n.*1520del) c.1267del (p.Ile423SerfsTer11) c.2170del (p.Ile724SerfsTer11) c.-924del (n.-924del) c.1990del (p.Ile664SerfsTer11) | |
2 | g.47800156A= | CA2496049329 | FBXO11,MSH6 | c.1876A= (p.Ile626=) c.2173A= (p.Ile725=) n.2257A= c.1606+567A= (n.1606+567A=) c.2179A= (p.Ile727=) c.628-3264A= (n.628-3264A=) c.1330A= (p.Ile444=) c.1783A= (p.Ile595=) c.169+8039T= (n.169+8039T=) c.*124+7838T= (n.*124+7838T=) c.*1520A= (n.*1520A=) c.1267A= (p.Ile423=) c.2170A= (p.Ile724=) c.-924A= (n.-924A=) c.1990A= (p.Ile664=) | |
2 | g.47800156A>C | CA346751180 | FBXO11,MSH6 | c.1876A>C (p.Ile626Leu) c.2173A>C (p.Ile725Leu) n.2257A>C c.1606+567A>C (n.1606+567A>C) c.2179A>C (p.Ile727Leu) c.628-3264A>C (n.628-3264A>C) c.1330A>C (p.Ile444Leu) c.1783A>C (p.Ile595Leu) c.169+8039T>G (n.169+8039T>G) c.*124+7838T>G (n.*124+7838T>G) c.*1520A>C (n.*1520A>C) c.1267A>C (p.Ile423Leu) c.2170A>C (p.Ile724Leu) c.-924A>C (n.-924A>C) c.1990A>C (p.Ile664Leu) | ClinVar dbSNP |
2 | g.47800156A>G | CA009801 | FBXO11,MSH6 | c.1876A>G (p.Ile626Val) c.2173A>G (p.Ile725Val) n.2257A>G c.1606+567A>G (n.1606+567A>G) c.2179A>G (p.Ile727Val) c.628-3264A>G (n.628-3264A>G) c.1330A>G (p.Ile444Val) c.1783A>G (p.Ile595Val) c.169+8039T>C (n.169+8039T>C) c.*124+7838T>C (n.*124+7838T>C) c.*1520A>G (n.*1520A>G) c.1267A>G (p.Ile423Val) c.2170A>G (p.Ile724Val) c.-924A>G (n.-924A>G) c.1990A>G (p.Ile664Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800156A>T | CA346751183 | FBXO11,MSH6 | c.1876A>T (p.Ile626Phe) c.2173A>T (p.Ile725Phe) n.2257A>T c.1606+567A>T (n.1606+567A>T) c.2179A>T (p.Ile727Phe) c.628-3264A>T (n.628-3264A>T) c.1330A>T (p.Ile444Phe) c.1783A>T (p.Ile595Phe) c.169+8039T>A (n.169+8039T>A) c.*124+7838T>A (n.*124+7838T>A) c.*1520A>T (n.*1520A>T) c.1267A>T (p.Ile423Phe) c.2170A>T (p.Ile724Phe) c.-924A>T (n.-924A>T) c.1990A>T (p.Ile664Phe) | gnomAD v4 |
2 | g.47800157T>A | CA346751184 | FBXO11,MSH6 | c.1877T>A (p.Ile626Asn) c.2174T>A (p.Ile725Asn) n.2258T>A c.1606+568T>A (n.1606+568T>A) c.2180T>A (p.Ile727Asn) c.628-3263T>A (n.628-3263T>A) c.1331T>A (p.Ile444Asn) c.1784T>A (p.Ile595Asn) c.169+8038A>T (n.169+8038A>T) c.*124+7837A>T (n.*124+7837A>T) c.*1521T>A (n.*1521T>A) c.1268T>A (p.Ile423Asn) c.2171T>A (p.Ile724Asn) c.-923T>A (n.-923T>A) c.1991T>A (p.Ile664Asn) | dbSNP |
2 | g.47800157T>C | CA346751186 | FBXO11,MSH6 | c.1877T>C (p.Ile626Thr) c.2174T>C (p.Ile725Thr) n.2258T>C c.1606+568T>C (n.1606+568T>C) c.2180T>C (p.Ile727Thr) c.628-3263T>C (n.628-3263T>C) c.1331T>C (p.Ile444Thr) c.1784T>C (p.Ile595Thr) c.169+8038A>G (n.169+8038A>G) c.*124+7837A>G (n.*124+7837A>G) c.*1521T>C (n.*1521T>C) c.1268T>C (p.Ile423Thr) c.2171T>C (p.Ile724Thr) c.-923T>C (n.-923T>C) c.1991T>C (p.Ile664Thr) | dbSNP gnomAD v4 |
2 | g.47800157T>G | CA346751188 | FBXO11,MSH6 | c.1877T>G (p.Ile626Ser) c.2174T>G (p.Ile725Ser) n.2258T>G c.1606+568T>G (n.1606+568T>G) c.2180T>G (p.Ile727Ser) c.628-3263T>G (n.628-3263T>G) c.1331T>G (p.Ile444Ser) c.1784T>G (p.Ile595Ser) c.169+8038A>C (n.169+8038A>C) c.*124+7837A>C (n.*124+7837A>C) c.*1521T>G (n.*1521T>G) c.1268T>G (p.Ile423Ser) c.2171T>G (p.Ile724Ser) c.-923T>G (n.-923T>G) c.1991T>G (p.Ile664Ser) | dbSNP |
2 | g.47800158_47800171del | CA2580067782 | FBXO11,MSH6 | c.1878_1891del (p.Phe627SerfsTer25) c.2175_2188del (p.Phe726SerfsTer25) n.2259_2272del c.1606+569_1606+582del (n.1606+569_1606+582del) c.2181_2194del (p.Phe728SerfsTer25) c.628-3262_628-3249del (n.628-3262_628-3249del) c.1332_1345del (p.Phe445SerfsTer25) c.1785_1798del (p.Phe596SerfsTer25) c.169+8025_169+8038del (n.169+8025_169+8038del) c.*124+7824_*124+7837del (n.*124+7824_*124+7837del) c.*1522_*1535del (n.*1522_*1535del) c.1269_1282del (p.Phe424SerfsTer25) c.2172_2185del (p.Phe725SerfsTer25) c.-922_-909del (n.-922_-909del) c.1992_2005del (p.Phe665SerfsTer25) | ClinVar |
2 | g.47800158C>A | CA426121650 | FBXO11,MSH6 | c.1878C>A (p.Ile626=) c.2175C>A (p.Ile725=) n.2259C>A c.1606+569C>A (n.1606+569C>A) c.2181C>A (p.Ile727=) c.628-3262C>A (n.628-3262C>A) c.1332C>A (p.Ile444=) c.1785C>A (p.Ile595=) c.169+8037G>T (n.169+8037G>T) c.*124+7836G>T (n.*124+7836G>T) c.*1522C>A (n.*1522C>A) c.1269C>A (p.Ile423=) c.2172C>A (p.Ile724=) c.-922C>A (n.-922C>A) c.1992C>A (p.Ile664=) | ClinVar dbSNP COSMIC |
2 | g.47800158C= | CA2496049331 | FBXO11,MSH6 | c.1878C= (p.Ile626=) c.2175C= (p.Ile725=) n.2259C= c.1606+569C= (n.1606+569C=) c.2181C= (p.Ile727=) c.628-3262C= (n.628-3262C=) c.1332C= (p.Ile444=) c.1785C= (p.Ile595=) c.169+8037G= (n.169+8037G=) c.*124+7836G= (n.*124+7836G=) c.*1522C= (n.*1522C=) c.1269C= (p.Ile423=) c.2172C= (p.Ile724=) c.-922C= (n.-922C=) c.1992C= (p.Ile664=) | |
2 | g.47800158C>G | CA009807 | FBXO11,MSH6 | c.1878C>G (p.Ile626Met) c.2175C>G (p.Ile725Met) n.2259C>G c.1606+569C>G (n.1606+569C>G) c.2181C>G (p.Ile727Met) c.628-3262C>G (n.628-3262C>G) c.1332C>G (p.Ile444Met) c.1785C>G (p.Ile595Met) c.169+8037G>C (n.169+8037G>C) c.*124+7836G>C (n.*124+7836G>C) c.*1522C>G (n.*1522C>G) c.1269C>G (p.Ile423Met) c.2172C>G (p.Ile724Met) c.-922C>G (n.-922C>G) c.1992C>G (p.Ile664Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800158C>T | CA426121655 | FBXO11,MSH6 | c.1878C>T (p.Ile626=) c.2175C>T (p.Ile725=) n.2259C>T c.1606+569C>T (n.1606+569C>T) c.2181C>T (p.Ile727=) c.628-3262C>T (n.628-3262C>T) c.1332C>T (p.Ile444=) c.1785C>T (p.Ile595=) c.169+8037G>A (n.169+8037G>A) c.*124+7836G>A (n.*124+7836G>A) c.*1522C>T (n.*1522C>T) c.1269C>T (p.Ile423=) c.2172C>T (p.Ile724=) c.-922C>T (n.-922C>T) c.1992C>T (p.Ile664=) | dbSNP |
2 | g.47800158dup | CA2580067785 | FBXO11,MSH6 | c.1878dup (p.Phe627LeufsTer30) c.2175dup (p.Phe726LeufsTer30) n.2259dup c.1606+569dup (n.1606+569dup) c.2181dup (p.Phe728LeufsTer30) c.628-3262dup (n.628-3262dup) c.1332dup (p.Phe445LeufsTer30) c.1785dup (p.Phe596LeufsTer30) c.169+8037dup (n.169+8037dup) c.*124+7836dup (n.*124+7836dup) c.*1522dup (n.*1522dup) c.1269dup (p.Phe424LeufsTer30) c.2172dup (p.Phe725LeufsTer30) c.-922dup (n.-922dup) c.1992dup (p.Phe665LeufsTer30) | ClinVar |
2 | g.47800159T>A | CA346751194 | FBXO11,MSH6 | c.1879T>A (p.Phe627Ile) c.2176T>A (p.Phe726Ile) n.2260T>A c.1606+570T>A (n.1606+570T>A) c.2182T>A (p.Phe728Ile) c.628-3261T>A (n.628-3261T>A) c.1333T>A (p.Phe445Ile) c.1786T>A (p.Phe596Ile) c.169+8036A>T (n.169+8036A>T) c.*124+7835A>T (n.*124+7835A>T) c.*1523T>A (n.*1523T>A) c.1270T>A (p.Phe424Ile) c.2173T>A (p.Phe725Ile) c.-921T>A (n.-921T>A) c.1993T>A (p.Phe665Ile) | dbSNP |
2 | g.47800159T>C | CA10578096 | FBXO11,MSH6 | c.1879T>C (p.Phe627Leu) c.2176T>C (p.Phe726Leu) n.2260T>C c.1606+570T>C (n.1606+570T>C) c.2182T>C (p.Phe728Leu) c.628-3261T>C (n.628-3261T>C) c.1333T>C (p.Phe445Leu) c.1786T>C (p.Phe596Leu) c.169+8036A>G (n.169+8036A>G) c.*124+7835A>G (n.*124+7835A>G) c.*1523T>C (n.*1523T>C) c.1270T>C (p.Phe424Leu) c.2173T>C (p.Phe725Leu) c.-921T>C (n.-921T>C) c.1993T>C (p.Phe665Leu) | ClinVar dbSNP |
2 | g.47800159T>G | CA346751191 | FBXO11,MSH6 | c.1879T>G (p.Phe627Val) c.2176T>G (p.Phe726Val) n.2260T>G c.1606+570T>G (n.1606+570T>G) c.2182T>G (p.Phe728Val) c.628-3261T>G (n.628-3261T>G) c.1333T>G (p.Phe445Val) c.1786T>G (p.Phe596Val) c.169+8036A>C (n.169+8036A>C) c.*124+7835A>C (n.*124+7835A>C) c.*1523T>G (n.*1523T>G) c.1270T>G (p.Phe424Val) c.2173T>G (p.Phe725Val) c.-921T>G (n.-921T>G) c.1993T>G (p.Phe665Val) | |
2 | g.47800159T= | CA2496049334 | FBXO11,MSH6 | c.1879T= (p.Phe627=) c.2176T= (p.Phe726=) n.2260T= c.1606+570T= (n.1606+570T=) c.2182T= (p.Phe728=) c.628-3261T= (n.628-3261T=) c.1333T= (p.Phe445=) c.1786T= (p.Phe596=) c.169+8036A= (n.169+8036A=) c.*124+7835A= (n.*124+7835A=) c.*1523T= (n.*1523T=) c.1270T= (p.Phe424=) c.2173T= (p.Phe725=) c.-921T= (n.-921T=) c.1993T= (p.Phe665=) | |
2 | g.47800159_47800160delinsAG | CA009813 | FBXO11,MSH6 | c.1879_1880delinsAG (p.Phe627Ser) c.2176_2177delinsAG (p.Phe726Ser) n.2260_2261delinsAG c.1606+570_1606+571delinsAG (n.1606+570_1606+571delinsAG) c.2182_2183delinsAG (p.Phe728Ser) c.628-3261_628-3260delinsAG (n.628-3261_628-3260delinsAG) c.1333_1334delinsAG (p.Phe445Ser) c.1786_1787delinsAG (p.Phe596Ser) c.169+8035_169+8036delinsCT (n.169+8035_169+8036delinsCT) c.*124+7834_*124+7835delinsCT (n.*124+7834_*124+7835delinsCT) c.*1523_*1524delinsAG (n.*1523_*1524delinsAG) c.1270_1271delinsAG (p.Phe424Ser) c.2173_2174delinsAG (p.Phe725Ser) c.-921_-920delinsAG (n.-921_-920delinsAG) c.1993_1994delinsAG (p.Phe665Ser) | dbSNP |
2 | g.47800159_47800160delinsTT | CA2496049333 | FBXO11,MSH6 | c.1879_1880delinsTT (p.Phe627=) c.2176_2177delinsTT (p.Phe726=) n.2260_2261delinsTT c.1606+570_1606+571delinsTT (n.1606+570_1606+571delinsTT) c.2182_2183delinsTT (p.Phe728=) c.628-3261_628-3260delinsTT (n.628-3261_628-3260delinsTT) c.1333_1334delinsTT (p.Phe445=) c.1786_1787delinsTT (p.Phe596=) c.169+8035_169+8036delinsAA (n.169+8035_169+8036delinsAA) c.*124+7834_*124+7835delinsAA (n.*124+7834_*124+7835delinsAA) c.*1523_*1524delinsTT (n.*1523_*1524delinsTT) c.1270_1271delinsTT (p.Phe424=) c.2173_2174delinsTT (p.Phe725=) c.-921_-920delinsTT (n.-921_-920delinsTT) c.1993_1994delinsTT (p.Phe665=) | |
2 | g.47800160T>A | CA009822 | FBXO11,MSH6 | c.1880T>A (p.Phe627Tyr) c.2177T>A (p.Phe726Tyr) n.2261T>A c.1606+571T>A (n.1606+571T>A) c.2183T>A (p.Phe728Tyr) c.628-3260T>A (n.628-3260T>A) c.1334T>A (p.Phe445Tyr) c.1787T>A (p.Phe596Tyr) c.169+8035A>T (n.169+8035A>T) c.*124+7834A>T (n.*124+7834A>T) c.*1524T>A (n.*1524T>A) c.1271T>A (p.Phe424Tyr) c.2174T>A (p.Phe725Tyr) c.-920T>A (n.-920T>A) c.1994T>A (p.Phe665Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800160T>C | CA346751197 | FBXO11,MSH6 | c.1880T>C (p.Phe627Ser) c.2177T>C (p.Phe726Ser) n.2261T>C c.1606+571T>C (n.1606+571T>C) c.2183T>C (p.Phe728Ser) c.628-3260T>C (n.628-3260T>C) c.1334T>C (p.Phe445Ser) c.1787T>C (p.Phe596Ser) c.169+8035A>G (n.169+8035A>G) c.*124+7834A>G (n.*124+7834A>G) c.*1524T>C (n.*1524T>C) c.1271T>C (p.Phe424Ser) c.2174T>C (p.Phe725Ser) c.-920T>C (n.-920T>C) c.1994T>C (p.Phe665Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47800160T>G | CA346751199 | FBXO11,MSH6 | c.1880T>G (p.Phe627Cys) c.2177T>G (p.Phe726Cys) n.2261T>G c.1606+571T>G (n.1606+571T>G) c.2183T>G (p.Phe728Cys) c.628-3260T>G (n.628-3260T>G) c.1334T>G (p.Phe445Cys) c.1787T>G (p.Phe596Cys) c.169+8035A>C (n.169+8035A>C) c.*124+7834A>C (n.*124+7834A>C) c.*1524T>G (n.*1524T>G) c.1271T>G (p.Phe424Cys) c.2174T>G (p.Phe725Cys) c.-920T>G (n.-920T>G) c.1994T>G (p.Phe665Cys) | |
2 | g.47800160T= | CA2496049337 | FBXO11,MSH6 | c.1880T= (p.Phe627=) c.2177T= (p.Phe726=) n.2261T= c.1606+571T= (n.1606+571T=) c.2183T= (p.Phe728=) c.628-3260T= (n.628-3260T=) c.1334T= (p.Phe445=) c.1787T= (p.Phe596=) c.169+8035A= (n.169+8035A=) c.*124+7834A= (n.*124+7834A=) c.*1524T= (n.*1524T=) c.1271T= (p.Phe424=) c.2174T= (p.Phe725=) c.-920T= (n.-920T=) c.1994T= (p.Phe665=) | |
2 | g.47800161C>A | CA346751201 | FBXO11,MSH6 | c.1881C>A (p.Phe627Leu) c.2178C>A (p.Phe726Leu) n.2262C>A c.1606+572C>A (n.1606+572C>A) c.2184C>A (p.Phe728Leu) c.628-3259C>A (n.628-3259C>A) c.1335C>A (p.Phe445Leu) c.1788C>A (p.Phe596Leu) c.169+8034G>T (n.169+8034G>T) c.*124+7833G>T (n.*124+7833G>T) c.*1525C>A (n.*1525C>A) c.1272C>A (p.Phe424Leu) c.2175C>A (p.Phe725Leu) c.-919C>A (n.-919C>A) c.1995C>A (p.Phe665Leu) | ClinVar dbSNP COSMIC |
2 | g.47800161C= | CA2496049339 | FBXO11,MSH6 | c.1881C= (p.Phe627=) c.2178C= (p.Phe726=) n.2262C= c.1606+572C= (n.1606+572C=) c.2184C= (p.Phe728=) c.628-3259C= (n.628-3259C=) c.1335C= (p.Phe445=) c.1788C= (p.Phe596=) c.169+8034G= (n.169+8034G=) c.*124+7833G= (n.*124+7833G=) c.*1525C= (n.*1525C=) c.1272C= (p.Phe424=) c.2175C= (p.Phe725=) c.-919C= (n.-919C=) c.1995C= (p.Phe665=) | |
2 | g.47800161C>G | CA346751203 | FBXO11,MSH6 | c.1881C>G (p.Phe627Leu) c.2178C>G (p.Phe726Leu) n.2262C>G c.1606+572C>G (n.1606+572C>G) c.2184C>G (p.Phe728Leu) c.628-3259C>G (n.628-3259C>G) c.1335C>G (p.Phe445Leu) c.1788C>G (p.Phe596Leu) c.169+8034G>C (n.169+8034G>C) c.*124+7833G>C (n.*124+7833G>C) c.*1525C>G (n.*1525C>G) c.1272C>G (p.Phe424Leu) c.2175C>G (p.Phe725Leu) c.-919C>G (n.-919C>G) c.1995C>G (p.Phe665Leu) | |
2 | g.47800161C>T | CA426121664 | FBXO11,MSH6 | c.1881C>T (p.Phe627=) c.2178C>T (p.Phe726=) n.2262C>T c.1606+572C>T (n.1606+572C>T) c.2184C>T (p.Phe728=) c.628-3259C>T (n.628-3259C>T) c.1335C>T (p.Phe445=) c.1788C>T (p.Phe596=) c.169+8034G>A (n.169+8034G>A) c.*124+7833G>A (n.*124+7833G>A) c.*1525C>T (n.*1525C>T) c.1272C>T (p.Phe424=) c.2175C>T (p.Phe725=) c.-919C>T (n.-919C>T) c.1995C>T (p.Phe665=) | ClinVar dbSNP |
2 | g.47800161_47800170del | CA2749799196 | FBXO11,MSH6 | c.1881_1890del (p.Thr628IlefsTer6) c.2178_2187del (p.Thr727IlefsTer6) n.2262_2271del c.1606+572_1606+581del (n.1606+572_1606+581del) c.2184_2193del (p.Thr729IlefsTer6) c.628-3259_628-3250del (n.628-3259_628-3250del) c.1335_1344del (p.Thr446IlefsTer6) c.1788_1797del (p.Thr597IlefsTer6) c.169+8025_169+8034del (n.169+8025_169+8034del) c.*124+7824_*124+7833del (n.*124+7824_*124+7833del) c.*1525_*1534del (n.*1525_*1534del) c.1272_1281del (p.Thr425IlefsTer6) c.2175_2184del (p.Thr726IlefsTer6) c.-919_-910del (n.-919_-910del) c.1995_2004del (p.Thr666IlefsTer6) | |
2 | g.47800162A= | CA2496049341 | FBXO11,MSH6 | c.1882A= (p.Thr628=) c.2179A= (p.Thr727=) n.2263A= c.1606+573A= (n.1606+573A=) c.2185A= (p.Thr729=) c.628-3258A= (n.628-3258A=) c.1336A= (p.Thr446=) c.1789A= (p.Thr597=) c.169+8033T= (n.169+8033T=) c.*124+7832T= (n.*124+7832T=) c.*1526A= (n.*1526A=) c.1273A= (p.Thr425=) c.2176A= (p.Thr726=) c.-918A= (n.-918A=) c.1996A= (p.Thr666=) | |
2 | g.47800162A>C | CA346751204 | FBXO11,MSH6 | c.1882A>C (p.Thr628Pro) c.2179A>C (p.Thr727Pro) n.2263A>C c.1606+573A>C (n.1606+573A>C) c.2185A>C (p.Thr729Pro) c.628-3258A>C (n.628-3258A>C) c.1336A>C (p.Thr446Pro) c.1789A>C (p.Thr597Pro) c.169+8033T>G (n.169+8033T>G) c.*124+7832T>G (n.*124+7832T>G) c.*1526A>C (n.*1526A>C) c.1273A>C (p.Thr425Pro) c.2176A>C (p.Thr726Pro) c.-918A>C (n.-918A>C) c.1996A>C (p.Thr666Pro) | |
2 | g.47800162A>G | CA068559 | FBXO11,MSH6 | c.1882A>G (p.Thr628Ala) c.2179A>G (p.Thr727Ala) n.2263A>G c.1606+573A>G (n.1606+573A>G) c.2185A>G (p.Thr729Ala) c.628-3258A>G (n.628-3258A>G) c.1336A>G (p.Thr446Ala) c.1789A>G (p.Thr597Ala) c.169+8033T>C (n.169+8033T>C) c.*124+7832T>C (n.*124+7832T>C) c.*1526A>G (n.*1526A>G) c.1273A>G (p.Thr425Ala) c.2176A>G (p.Thr726Ala) c.-918A>G (n.-918A>G) c.1996A>G (p.Thr666Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800162A>T | CA346751208 | FBXO11,MSH6 | c.1882A>T (p.Thr628Ser) c.2179A>T (p.Thr727Ser) n.2263A>T c.1606+573A>T (n.1606+573A>T) c.2185A>T (p.Thr729Ser) c.628-3258A>T (n.628-3258A>T) c.1336A>T (p.Thr446Ser) c.1789A>T (p.Thr597Ser) c.169+8033T>A (n.169+8033T>A) c.*124+7832T>A (n.*124+7832T>A) c.*1526A>T (n.*1526A>T) c.1273A>T (p.Thr425Ser) c.2176A>T (p.Thr726Ser) c.-918A>T (n.-918A>T) c.1996A>T (p.Thr666Ser) | ClinVar dbSNP |
2 | g.47800163C>A | CA068562 | FBXO11,MSH6 | c.1883C>A (p.Thr628Asn) c.2180C>A (p.Thr727Asn) n.2264C>A c.1606+574C>A (n.1606+574C>A) c.2186C>A (p.Thr729Asn) c.628-3257C>A (n.628-3257C>A) c.1337C>A (p.Thr446Asn) c.1790C>A (p.Thr597Asn) c.169+8032G>T (n.169+8032G>T) c.*124+7831G>T (n.*124+7831G>T) c.*1527C>A (n.*1527C>A) c.1274C>A (p.Thr425Asn) c.2177C>A (p.Thr726Asn) c.-917C>A (n.-917C>A) c.1997C>A (p.Thr666Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800163C= | CA2496049344 | FBXO11,MSH6 | c.1883C= (p.Thr628=) c.2180C= (p.Thr727=) n.2264C= c.1606+574C= (n.1606+574C=) c.2186C= (p.Thr729=) c.628-3257C= (n.628-3257C=) c.1337C= (p.Thr446=) c.1790C= (p.Thr597=) c.169+8032G= (n.169+8032G=) c.*124+7831G= (n.*124+7831G=) c.*1527C= (n.*1527C=) c.1274C= (p.Thr425=) c.2177C= (p.Thr726=) c.-917C= (n.-917C=) c.1997C= (p.Thr666=) | |
2 | g.47800163C>G | CA068566 | FBXO11,MSH6 | c.1883C>G (p.Thr628Ser) c.2180C>G (p.Thr727Ser) n.2264C>G c.1606+574C>G (n.1606+574C>G) c.2186C>G (p.Thr729Ser) c.628-3257C>G (n.628-3257C>G) c.1337C>G (p.Thr446Ser) c.1790C>G (p.Thr597Ser) c.169+8032G>C (n.169+8032G>C) c.*124+7831G>C (n.*124+7831G>C) c.*1527C>G (n.*1527C>G) c.1274C>G (p.Thr425Ser) c.2177C>G (p.Thr726Ser) c.-917C>G (n.-917C>G) c.1997C>G (p.Thr666Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800163C>T | CA346751210 | FBXO11,MSH6 | c.1883C>T (p.Thr628Ile) c.2180C>T (p.Thr727Ile) n.2264C>T c.1606+574C>T (n.1606+574C>T) c.2186C>T (p.Thr729Ile) c.628-3257C>T (n.628-3257C>T) c.1337C>T (p.Thr446Ile) c.1790C>T (p.Thr597Ile) c.169+8032G>A (n.169+8032G>A) c.*124+7831G>A (n.*124+7831G>A) c.*1527C>T (n.*1527C>T) c.1274C>T (p.Thr425Ile) c.2177C>T (p.Thr726Ile) c.-917C>T (n.-917C>T) c.1997C>T (p.Thr666Ile) | ClinVar dbSNP |
2 | g.47800164C>A | CA426121672 | FBXO11,MSH6 | c.1884C>A (p.Thr628=) c.2181C>A (p.Thr727=) n.2265C>A c.1606+575C>A (n.1606+575C>A) c.2187C>A (p.Thr729=) c.628-3256C>A (n.628-3256C>A) c.1338C>A (p.Thr446=) c.1791C>A (p.Thr597=) c.169+8031G>T (n.169+8031G>T) c.*124+7830G>T (n.*124+7830G>T) c.*1528C>A (n.*1528C>A) c.1275C>A (p.Thr425=) c.2178C>A (p.Thr726=) c.-916C>A (n.-916C>A) c.1998C>A (p.Thr666=) | dbSNP |
2 | g.47800164C= | CA2496049346 | FBXO11,MSH6 | c.1884C= (p.Thr628=) c.2181C= (p.Thr727=) n.2265C= c.1606+575C= (n.1606+575C=) c.2187C= (p.Thr729=) c.628-3256C= (n.628-3256C=) c.1338C= (p.Thr446=) c.1791C= (p.Thr597=) c.169+8031G= (n.169+8031G=) c.*124+7830G= (n.*124+7830G=) c.*1528C= (n.*1528C=) c.1275C= (p.Thr425=) c.2178C= (p.Thr726=) c.-916C= (n.-916C=) c.1998C= (p.Thr666=) | |
2 | g.47800164C>G | CA10578097 | FBXO11,MSH6 | c.1884C>G (p.Thr628=) c.2181C>G (p.Thr727=) n.2265C>G c.1606+575C>G (n.1606+575C>G) c.2187C>G (p.Thr729=) c.628-3256C>G (n.628-3256C>G) c.1338C>G (p.Thr446=) c.1791C>G (p.Thr597=) c.169+8031G>C (n.169+8031G>C) c.*124+7830G>C (n.*124+7830G>C) c.*1528C>G (n.*1528C>G) c.1275C>G (p.Thr425=) c.2178C>G (p.Thr726=) c.-916C>G (n.-916C>G) c.1998C>G (p.Thr666=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800164C>T | CA426121671 | FBXO11,MSH6 | c.1884C>T (p.Thr628=) c.2181C>T (p.Thr727=) n.2265C>T c.1606+575C>T (n.1606+575C>T) c.2187C>T (p.Thr729=) c.628-3256C>T (n.628-3256C>T) c.1338C>T (p.Thr446=) c.1791C>T (p.Thr597=) c.169+8031G>A (n.169+8031G>A) c.*124+7830G>A (n.*124+7830G>A) c.*1528C>T (n.*1528C>T) c.1275C>T (p.Thr425=) c.2178C>T (p.Thr726=) c.-916C>T (n.-916C>T) c.1998C>T (p.Thr666=) | dbSNP |
2 | g.47800165A= | CA2496049348 | FBXO11,MSH6 | c.1885A= (p.Lys629=) c.2182A= (p.Lys728=) n.2266A= c.1606+576A= (n.1606+576A=) c.2188A= (p.Lys730=) c.628-3255A= (n.628-3255A=) c.1339A= (p.Lys447=) c.1792A= (p.Lys598=) c.169+8030T= (n.169+8030T=) c.*124+7829T= (n.*124+7829T=) c.*1529A= (n.*1529A=) c.1276A= (p.Lys426=) c.2179A= (p.Lys727=) c.-915A= (n.-915A=) c.1999A= (p.Lys667=) | |
2 | g.47800165A>C | CA346751216 | FBXO11,MSH6 | c.1885A>C (p.Lys629Gln) c.2182A>C (p.Lys728Gln) n.2266A>C c.1606+576A>C (n.1606+576A>C) c.2188A>C (p.Lys730Gln) c.628-3255A>C (n.628-3255A>C) c.1339A>C (p.Lys447Gln) c.1792A>C (p.Lys598Gln) c.169+8030T>G (n.169+8030T>G) c.*124+7829T>G (n.*124+7829T>G) c.*1529A>C (n.*1529A>C) c.1276A>C (p.Lys426Gln) c.2179A>C (p.Lys727Gln) c.-915A>C (n.-915A>C) c.1999A>C (p.Lys667Gln) | dbSNP |
2 | g.47800165A>G | CA346751218 | FBXO11,MSH6 | c.1885A>G (p.Lys629Glu) c.2182A>G (p.Lys728Glu) n.2266A>G c.1606+576A>G (n.1606+576A>G) c.2188A>G (p.Lys730Glu) c.628-3255A>G (n.628-3255A>G) c.1339A>G (p.Lys447Glu) c.1792A>G (p.Lys598Glu) c.169+8030T>C (n.169+8030T>C) c.*124+7829T>C (n.*124+7829T>C) c.*1529A>G (n.*1529A>G) c.1276A>G (p.Lys426Glu) c.2179A>G (p.Lys727Glu) c.-915A>G (n.-915A>G) c.1999A>G (p.Lys667Glu) | ClinVar dbSNP |
2 | g.47800165A>T | CA346751214 | FBXO11,MSH6 | c.1885A>T (p.Lys629Ter) c.2182A>T (p.Lys728Ter) n.2266A>T c.1606+576A>T (n.1606+576A>T) c.2188A>T (p.Lys730Ter) c.628-3255A>T (n.628-3255A>T) c.1339A>T (p.Lys447Ter) c.1792A>T (p.Lys598Ter) c.169+8030T>A (n.169+8030T>A) c.*124+7829T>A (n.*124+7829T>A) c.*1529A>T (n.*1529A>T) c.1276A>T (p.Lys426Ter) c.2179A>T (p.Lys727Ter) c.-915A>T (n.-915A>T) c.1999A>T (p.Lys667Ter) | dbSNP |
2 | g.47800166A= | CA2496049352 | FBXO11,MSH6 | c.1886A= (p.Lys629=) c.2183A= (p.Lys728=) n.2267A= c.1606+577A= (n.1606+577A=) c.2189A= (p.Lys730=) c.628-3254A= (n.628-3254A=) c.1340A= (p.Lys447=) c.1793A= (p.Lys598=) c.169+8029T= (n.169+8029T=) c.*124+7828T= (n.*124+7828T=) c.*1530A= (n.*1530A=) c.1277A= (p.Lys426=) c.2180A= (p.Lys727=) c.-914A= (n.-914A=) c.2000A= (p.Lys667=) | |
2 | g.47800166A>C | CA009828 | FBXO11,MSH6 | c.1886A>C (p.Lys629Thr) c.2183A>C (p.Lys728Thr) n.2267A>C c.1606+577A>C (n.1606+577A>C) c.2189A>C (p.Lys730Thr) c.628-3254A>C (n.628-3254A>C) c.1340A>C (p.Lys447Thr) c.1793A>C (p.Lys598Thr) c.169+8029T>G (n.169+8029T>G) c.*124+7828T>G (n.*124+7828T>G) c.*1530A>C (n.*1530A>C) c.1277A>C (p.Lys426Thr) c.2180A>C (p.Lys727Thr) c.-914A>C (n.-914A>C) c.2000A>C (p.Lys667Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800166A>G | CA068575 | FBXO11,MSH6 | c.1886A>G (p.Lys629Arg) c.2183A>G (p.Lys728Arg) n.2267A>G c.1606+577A>G (n.1606+577A>G) c.2189A>G (p.Lys730Arg) c.628-3254A>G (n.628-3254A>G) c.1340A>G (p.Lys447Arg) c.1793A>G (p.Lys598Arg) c.169+8029T>C (n.169+8029T>C) c.*124+7828T>C (n.*124+7828T>C) c.*1530A>G (n.*1530A>G) c.1277A>G (p.Lys426Arg) c.2180A>G (p.Lys727Arg) c.-914A>G (n.-914A>G) c.2000A>G (p.Lys667Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800166A>T | CA346751222 | FBXO11,MSH6 | c.1886A>T (p.Lys629Ile) c.2183A>T (p.Lys728Ile) n.2267A>T c.1606+577A>T (n.1606+577A>T) c.2189A>T (p.Lys730Ile) c.628-3254A>T (n.628-3254A>T) c.1340A>T (p.Lys447Ile) c.1793A>T (p.Lys598Ile) c.169+8029T>A (n.169+8029T>A) c.*124+7828T>A (n.*124+7828T>A) c.*1530A>T (n.*1530A>T) c.1277A>T (p.Lys426Ile) c.2180A>T (p.Lys727Ile) c.-914A>T (n.-914A>T) c.2000A>T (p.Lys667Ile) | dbSNP |
2 | g.47800167A= | CA2496049354 | FBXO11,MSH6 | c.1887A= (p.Lys629=) c.2184A= (p.Lys728=) n.2268A= c.1606+578A= (n.1606+578A=) c.2190A= (p.Lys730=) c.628-3253A= (n.628-3253A=) c.1341A= (p.Lys447=) c.1794A= (p.Lys598=) c.169+8028T= (n.169+8028T=) c.*124+7827T= (n.*124+7827T=) c.*1531A= (n.*1531A=) c.1278A= (p.Lys426=) c.2181A= (p.Lys727=) c.-913A= (n.-913A=) c.2001A= (p.Lys667=) | |
2 | g.47800167A>C | CA346751227 | FBXO11,MSH6 | c.1887A>C (p.Lys629Asn) c.2184A>C (p.Lys728Asn) n.2268A>C c.1606+578A>C (n.1606+578A>C) c.2190A>C (p.Lys730Asn) c.628-3253A>C (n.628-3253A>C) c.1341A>C (p.Lys447Asn) c.1794A>C (p.Lys598Asn) c.169+8028T>G (n.169+8028T>G) c.*124+7827T>G (n.*124+7827T>G) c.*1531A>C (n.*1531A>C) c.1278A>C (p.Lys426Asn) c.2181A>C (p.Lys727Asn) c.-913A>C (n.-913A>C) c.2001A>C (p.Lys667Asn) | ClinVar dbSNP |
2 | g.47800167A>G | CA426121680 | FBXO11,MSH6 | c.1887A>G (p.Lys629=) c.2184A>G (p.Lys728=) n.2268A>G c.1606+578A>G (n.1606+578A>G) c.2190A>G (p.Lys730=) c.628-3253A>G (n.628-3253A>G) c.1341A>G (p.Lys447=) c.1794A>G (p.Lys598=) c.169+8028T>C (n.169+8028T>C) c.*124+7827T>C (n.*124+7827T>C) c.*1531A>G (n.*1531A>G) c.1278A>G (p.Lys426=) c.2181A>G (p.Lys727=) c.-913A>G (n.-913A>G) c.2001A>G (p.Lys667=) | |
2 | g.47800167A>T | CA346751230 | FBXO11,MSH6 | c.1887A>T (p.Lys629Asn) c.2184A>T (p.Lys728Asn) n.2268A>T c.1606+578A>T (n.1606+578A>T) c.2190A>T (p.Lys730Asn) c.628-3253A>T (n.628-3253A>T) c.1341A>T (p.Lys447Asn) c.1794A>T (p.Lys598Asn) c.169+8028T>A (n.169+8028T>A) c.*124+7827T>A (n.*124+7827T>A) c.*1531A>T (n.*1531A>T) c.1278A>T (p.Lys426Asn) c.2181A>T (p.Lys727Asn) c.-913A>T (n.-913A>T) c.2001A>T (p.Lys667Asn) | dbSNP |
2 | g.47800168G>A | CA346751233 | FBXO11,MSH6 | c.1888G>A (p.Ala630Thr) c.2185G>A (p.Ala729Thr) n.2269G>A c.1606+579G>A (n.1606+579G>A) c.2191G>A (p.Ala731Thr) c.628-3252G>A (n.628-3252G>A) c.1342G>A (p.Ala448Thr) c.1795G>A (p.Ala599Thr) c.169+8027C>T (n.169+8027C>T) c.*124+7826C>T (n.*124+7826C>T) c.*1532G>A (n.*1532G>A) c.1279G>A (p.Ala427Thr) c.2182G>A (p.Ala728Thr) c.-912G>A (n.-912G>A) c.2002G>A (p.Ala668Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.47800168G>C | CA346751235 | FBXO11,MSH6 | c.1888G>C (p.Ala630Pro) c.2185G>C (p.Ala729Pro) n.2269G>C c.1606+579G>C (n.1606+579G>C) c.2191G>C (p.Ala731Pro) c.628-3252G>C (n.628-3252G>C) c.1342G>C (p.Ala448Pro) c.1795G>C (p.Ala599Pro) c.169+8027C>G (n.169+8027C>G) c.*124+7826C>G (n.*124+7826C>G) c.*1532G>C (n.*1532G>C) c.1279G>C (p.Ala427Pro) c.2182G>C (p.Ala728Pro) c.-912G>C (n.-912G>C) c.2002G>C (p.Ala668Pro) | dbSNP |
2 | g.47800168G>T | CA346751238 | FBXO11,MSH6 | c.1888G>T (p.Ala630Ser) c.2185G>T (p.Ala729Ser) n.2269G>T c.1606+579G>T (n.1606+579G>T) c.2191G>T (p.Ala731Ser) c.628-3252G>T (n.628-3252G>T) c.1342G>T (p.Ala448Ser) c.1795G>T (p.Ala599Ser) c.169+8027C>A (n.169+8027C>A) c.*124+7826C>A (n.*124+7826C>A) c.*1532G>T (n.*1532G>T) c.1279G>T (p.Ala427Ser) c.2182G>T (p.Ala728Ser) c.-912G>T (n.-912G>T) c.2002G>T (p.Ala668Ser) | dbSNP |
2 | g.47800169C>A | CA346751242 | FBXO11,MSH6 | c.1889C>A (p.Ala630Asp) c.2186C>A (p.Ala729Asp) n.2270C>A c.1606+580C>A (n.1606+580C>A) c.2192C>A (p.Ala731Asp) c.628-3251C>A (n.628-3251C>A) c.1343C>A (p.Ala448Asp) c.1796C>A (p.Ala599Asp) c.169+8026G>T (n.169+8026G>T) c.*124+7825G>T (n.*124+7825G>T) c.*1533C>A (n.*1533C>A) c.1280C>A (p.Ala427Asp) c.2183C>A (p.Ala728Asp) c.-911C>A (n.-911C>A) c.2003C>A (p.Ala668Asp) | dbSNP |
2 | g.47800169C= | CA2496049356 | FBXO11,MSH6 | c.1889C= (p.Ala630=) c.2186C= (p.Ala729=) n.2270C= c.1606+580C= (n.1606+580C=) c.2192C= (p.Ala731=) c.628-3251C= (n.628-3251C=) c.1343C= (p.Ala448=) c.1796C= (p.Ala599=) c.169+8026G= (n.169+8026G=) c.*124+7825G= (n.*124+7825G=) c.*1533C= (n.*1533C=) c.1280C= (p.Ala427=) c.2183C= (p.Ala728=) c.-911C= (n.-911C=) c.2003C= (p.Ala668=) | |
2 | g.47800169C>G | CA346751245 | FBXO11,MSH6 | c.1889C>G (p.Ala630Gly) c.2186C>G (p.Ala729Gly) n.2270C>G c.1606+580C>G (n.1606+580C>G) c.2192C>G (p.Ala731Gly) c.628-3251C>G (n.628-3251C>G) c.1343C>G (p.Ala448Gly) c.1796C>G (p.Ala599Gly) c.169+8026G>C (n.169+8026G>C) c.*124+7825G>C (n.*124+7825G>C) c.*1533C>G (n.*1533C>G) c.1280C>G (p.Ala427Gly) c.2183C>G (p.Ala728Gly) c.-911C>G (n.-911C>G) c.2003C>G (p.Ala668Gly) | ClinVar dbSNP |
2 | g.47800169C>T | CA346751247 | FBXO11,MSH6 | c.1889C>T (p.Ala630Val) c.2186C>T (p.Ala729Val) n.2270C>T c.1606+580C>T (n.1606+580C>T) c.2192C>T (p.Ala731Val) c.628-3251C>T (n.628-3251C>T) c.1343C>T (p.Ala448Val) c.1796C>T (p.Ala599Val) c.169+8026G>A (n.169+8026G>A) c.*124+7825G>A (n.*124+7825G>A) c.*1533C>T (n.*1533C>T) c.1280C>T (p.Ala427Val) c.2183C>T (p.Ala728Val) c.-911C>T (n.-911C>T) c.2003C>T (p.Ala668Val) | ClinVar dbSNP |
2 | g.47800170del | CA2580067790 | FBXO11,MSH6 | c.1890del (p.Tyr631IlefsTer6) c.2187del (p.Tyr730IlefsTer6) n.2271del c.1606+581del (n.1606+581del) c.2193del (p.Tyr732IlefsTer6) c.628-3250del (n.628-3250del) c.1344del (p.Tyr449IlefsTer6) c.1797del (p.Tyr600IlefsTer6) c.169+8026del (n.169+8026del) c.*124+7825del (n.*124+7825del) c.*1534del (n.*1534del) c.1281del (p.Tyr428IlefsTer6) c.2184del (p.Tyr729IlefsTer6) c.-910del (n.-910del) c.2004del (p.Tyr669IlefsTer6) | ClinVar |
2 | g.47800170_47800177del | CA2825001111 | FBXO11,MSH6 | c.1890_1897del (p.Tyr631AsnfsTer23) c.2187_2194del (p.Tyr730AsnfsTer23) n.2271_2278del c.1606+581_1606+588del (n.1606+581_1606+588del) c.2193_2200del (p.Tyr732AsnfsTer23) c.628-3250_628-3243del (n.628-3250_628-3243del) c.1344_1351del (p.Tyr449AsnfsTer23) c.1797_1804del (p.Tyr600AsnfsTer23) c.169+8019_169+8026del (n.169+8019_169+8026del) c.*124+7818_*124+7825del (n.*124+7818_*124+7825del) c.*1534_*1541del (n.*1534_*1541del) c.1281_1288del (p.Tyr428AsnfsTer23) c.2184_2191del (p.Tyr729AsnfsTer23) c.-910_-903del (n.-910_-903del) c.2004_2011del (p.Tyr669AsnfsTer23) | ClinVar |
2 | g.47800170C>A | CA009834 | FBXO11,MSH6 | c.1890C>A (p.Ala630=) c.2187C>A (p.Ala729=) n.2271C>A c.1606+581C>A (n.1606+581C>A) c.2193C>A (p.Ala731=) c.628-3250C>A (n.628-3250C>A) c.1344C>A (p.Ala448=) c.1797C>A (p.Ala599=) c.169+8025G>T (n.169+8025G>T) c.*124+7824G>T (n.*124+7824G>T) c.*1534C>A (n.*1534C>A) c.1281C>A (p.Ala427=) c.2184C>A (p.Ala728=) c.-910C>A (n.-910C>A) c.2004C>A (p.Ala668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800170C= | CA2496049358 | FBXO11,MSH6 | c.1890C= (p.Ala630=) c.2187C= (p.Ala729=) n.2271C= c.1606+581C= (n.1606+581C=) c.2193C= (p.Ala731=) c.628-3250C= (n.628-3250C=) c.1344C= (p.Ala448=) c.1797C= (p.Ala599=) c.169+8025G= (n.169+8025G=) c.*124+7824G= (n.*124+7824G=) c.*1534C= (n.*1534C=) c.1281C= (p.Ala427=) c.2184C= (p.Ala728=) c.-910C= (n.-910C=) c.2004C= (p.Ala668=) | |
2 | g.47800170C>G | CA426121682 | FBXO11,MSH6 | c.1890C>G (p.Ala630=) c.2187C>G (p.Ala729=) n.2271C>G c.1606+581C>G (n.1606+581C>G) c.2193C>G (p.Ala731=) c.628-3250C>G (n.628-3250C>G) c.1344C>G (p.Ala448=) c.1797C>G (p.Ala599=) c.169+8025G>C (n.169+8025G>C) c.*124+7824G>C (n.*124+7824G>C) c.*1534C>G (n.*1534C>G) c.1281C>G (p.Ala427=) c.2184C>G (p.Ala728=) c.-910C>G (n.-910C>G) c.2004C>G (p.Ala668=) | ClinVar dbSNP |
2 | g.47800170C>T | CA068585 | FBXO11,MSH6 | c.1890C>T (p.Ala630=) c.2187C>T (p.Ala729=) n.2271C>T c.1606+581C>T (n.1606+581C>T) c.2193C>T (p.Ala731=) c.628-3250C>T (n.628-3250C>T) c.1344C>T (p.Ala448=) c.1797C>T (p.Ala599=) c.169+8025G>A (n.169+8025G>A) c.*124+7824G>A (n.*124+7824G>A) c.*1534C>T (n.*1534C>T) c.1281C>T (p.Ala427=) c.2184C>T (p.Ala728=) c.-910C>T (n.-910C>T) c.2004C>T (p.Ala668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800171T>A | CA346751257 | FBXO11,MSH6 | c.1891T>A (p.Tyr631Asn) c.2188T>A (p.Tyr730Asn) n.2272T>A c.1606+582T>A (n.1606+582T>A) c.2194T>A (p.Tyr732Asn) c.628-3249T>A (n.628-3249T>A) c.1345T>A (p.Tyr449Asn) c.1798T>A (p.Tyr600Asn) c.169+8024A>T (n.169+8024A>T) c.*124+7823A>T (n.*124+7823A>T) c.*1535T>A (n.*1535T>A) c.1282T>A (p.Tyr428Asn) c.2185T>A (p.Tyr729Asn) c.-909T>A (n.-909T>A) c.2005T>A (p.Tyr669Asn) | dbSNP |
2 | g.47800171T>C | CA346751258 | FBXO11,MSH6 | c.1891T>C (p.Tyr631His) c.2188T>C (p.Tyr730His) n.2272T>C c.1606+582T>C (n.1606+582T>C) c.2194T>C (p.Tyr732His) c.628-3249T>C (n.628-3249T>C) c.1345T>C (p.Tyr449His) c.1798T>C (p.Tyr600His) c.169+8024A>G (n.169+8024A>G) c.*124+7823A>G (n.*124+7823A>G) c.*1535T>C (n.*1535T>C) c.1282T>C (p.Tyr428His) c.2185T>C (p.Tyr729His) c.-909T>C (n.-909T>C) c.2005T>C (p.Tyr669His) | ClinVar dbSNP |
2 | g.47800171T>G | CA346751256 | FBXO11,MSH6 | c.1891T>G (p.Tyr631Asp) c.2188T>G (p.Tyr730Asp) n.2272T>G c.1606+582T>G (n.1606+582T>G) c.2194T>G (p.Tyr732Asp) c.628-3249T>G (n.628-3249T>G) c.1345T>G (p.Tyr449Asp) c.1798T>G (p.Tyr600Asp) c.169+8024A>C (n.169+8024A>C) c.*124+7823A>C (n.*124+7823A>C) c.*1535T>G (n.*1535T>G) c.1282T>G (p.Tyr428Asp) c.2185T>G (p.Tyr729Asp) c.-909T>G (n.-909T>G) c.2005T>G (p.Tyr669Asp) | |
2 | g.47800171dup | CA2586969285 | FBXO11,MSH6 | c.1891dup (p.Tyr631LeufsTer26) c.2188dup (p.Tyr730LeufsTer26) n.2272dup c.1606+582dup (n.1606+582dup) c.2194dup (p.Tyr732LeufsTer26) c.628-3249dup (n.628-3249dup) c.1345dup (p.Tyr449LeufsTer26) c.1798dup (p.Tyr600LeufsTer26) c.169+8024dup (n.169+8024dup) c.*124+7823dup (n.*124+7823dup) c.*1535dup (n.*1535dup) c.1282dup (p.Tyr428LeufsTer26) c.2185dup (p.Tyr729LeufsTer26) c.-909dup (n.-909dup) c.2005dup (p.Tyr669LeufsTer26) | ClinVar |
2 | g.47800172A= | CA2496049361 | FBXO11,MSH6 | c.1892A= (p.Tyr631=) c.2189A= (p.Tyr730=) n.2273A= c.1606+583A= (n.1606+583A=) c.2195A= (p.Tyr732=) c.628-3248A= (n.628-3248A=) c.1346A= (p.Tyr449=) c.1799A= (p.Tyr600=) c.169+8023T= (n.169+8023T=) c.*124+7822T= (n.*124+7822T=) c.*1536A= (n.*1536A=) c.1283A= (p.Tyr428=) c.2186A= (p.Tyr729=) c.-908A= (n.-908A=) c.2006A= (p.Tyr669=) | |
2 | g.47800172A>C | CA346751259 | FBXO11,MSH6 | c.1892A>C (p.Tyr631Ser) c.2189A>C (p.Tyr730Ser) n.2273A>C c.1606+583A>C (n.1606+583A>C) c.2195A>C (p.Tyr732Ser) c.628-3248A>C (n.628-3248A>C) c.1346A>C (p.Tyr449Ser) c.1799A>C (p.Tyr600Ser) c.169+8023T>G (n.169+8023T>G) c.*124+7822T>G (n.*124+7822T>G) c.*1536A>C (n.*1536A>C) c.1283A>C (p.Tyr428Ser) c.2186A>C (p.Tyr729Ser) c.-908A>C (n.-908A>C) c.2006A>C (p.Tyr669Ser) | dbSNP gnomAD v4 |
2 | g.47800172A>G | CA009841 | FBXO11,MSH6 | c.1892A>G (p.Tyr631Cys) c.2189A>G (p.Tyr730Cys) n.2273A>G c.1606+583A>G (n.1606+583A>G) c.2195A>G (p.Tyr732Cys) c.628-3248A>G (n.628-3248A>G) c.1346A>G (p.Tyr449Cys) c.1799A>G (p.Tyr600Cys) c.169+8023T>C (n.169+8023T>C) c.*124+7822T>C (n.*124+7822T>C) c.*1536A>G (n.*1536A>G) c.1283A>G (p.Tyr428Cys) c.2186A>G (p.Tyr729Cys) c.-908A>G (n.-908A>G) c.2006A>G (p.Tyr669Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800172A>T | CA346751263 | FBXO11,MSH6 | c.1892A>T (p.Tyr631Phe) c.2189A>T (p.Tyr730Phe) n.2273A>T c.1606+583A>T (n.1606+583A>T) c.2195A>T (p.Tyr732Phe) c.628-3248A>T (n.628-3248A>T) c.1346A>T (p.Tyr449Phe) c.1799A>T (p.Tyr600Phe) c.169+8023T>A (n.169+8023T>A) c.*124+7822T>A (n.*124+7822T>A) c.*1536A>T (n.*1536A>T) c.1283A>T (p.Tyr428Phe) c.2186A>T (p.Tyr729Phe) c.-908A>T (n.-908A>T) c.2006A>T (p.Tyr669Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.47800173T>A | CA346751267 | FBXO11,MSH6 | c.1893T>A (p.Tyr631Ter) c.2190T>A (p.Tyr730Ter) n.2274T>A c.1606+584T>A (n.1606+584T>A) c.2196T>A (p.Tyr732Ter) c.628-3247T>A (n.628-3247T>A) c.1347T>A (p.Tyr449Ter) c.1800T>A (p.Tyr600Ter) c.169+8022A>T (n.169+8022A>T) c.*124+7821A>T (n.*124+7821A>T) c.*1537T>A (n.*1537T>A) c.1284T>A (p.Tyr428Ter) c.2187T>A (p.Tyr729Ter) c.-907T>A (n.-907T>A) c.2007T>A (p.Tyr669Ter) | dbSNP |
2 | g.47800173T>C | CA426121688 | FBXO11,MSH6 | c.1893T>C (p.Tyr631=) c.2190T>C (p.Tyr730=) n.2274T>C c.1606+584T>C (n.1606+584T>C) c.2196T>C (p.Tyr732=) c.628-3247T>C (n.628-3247T>C) c.1347T>C (p.Tyr449=) c.1800T>C (p.Tyr600=) c.169+8022A>G (n.169+8022A>G) c.*124+7821A>G (n.*124+7821A>G) c.*1537T>C (n.*1537T>C) c.1284T>C (p.Tyr428=) c.2187T>C (p.Tyr729=) c.-907T>C (n.-907T>C) c.2007T>C (p.Tyr669=) | dbSNP |
2 | g.47800173T>G | CA346751275 | FBXO11,MSH6 | c.1893T>G (p.Tyr631Ter) c.2190T>G (p.Tyr730Ter) n.2274T>G c.1606+584T>G (n.1606+584T>G) c.2196T>G (p.Tyr732Ter) c.628-3247T>G (n.628-3247T>G) c.1347T>G (p.Tyr449Ter) c.1800T>G (p.Tyr600Ter) c.169+8022A>C (n.169+8022A>C) c.*124+7821A>C (n.*124+7821A>C) c.*1537T>G (n.*1537T>G) c.1284T>G (p.Tyr428Ter) c.2187T>G (p.Tyr729Ter) c.-907T>G (n.-907T>G) c.2007T>G (p.Tyr669Ter) | dbSNP |
2 | g.47800173_47800177del | CA2749799211 | FBXO11,MSH6 | c.1893_1897del (p.Tyr631Ter) c.2190_2194del (p.Tyr730Ter) n.2274_2278del c.1606+584_1606+588del (n.1606+584_1606+588del) c.2196_2200del (p.Tyr732Ter) c.628-3247_628-3243del (n.628-3247_628-3243del) c.1347_1351del (p.Tyr449Ter) c.1800_1804del (p.Tyr600Ter) c.169+8018_169+8022del (n.169+8018_169+8022del) c.*124+7817_*124+7821del (n.*124+7817_*124+7821del) c.*1537_*1541del (n.*1537_*1541del) c.1284_1288del (p.Tyr428Ter) c.2187_2191del (p.Tyr729Ter) c.-907_-903del (n.-907_-903del) c.2007_2011del (p.Tyr669Ter) | |
2 | g.47800174C>A | CA346751283 | FBXO11,MSH6 | c.1894C>A (p.Gln632Lys) c.2191C>A (p.Gln731Lys) n.2275C>A c.1606+585C>A (n.1606+585C>A) c.2197C>A (p.Gln733Lys) c.628-3246C>A (n.628-3246C>A) c.1348C>A (p.Gln450Lys) c.1801C>A (p.Gln601Lys) c.169+8021G>T (n.169+8021G>T) c.*124+7820G>T (n.*124+7820G>T) c.*1538C>A (n.*1538C>A) c.1285C>A (p.Gln429Lys) c.2188C>A (p.Gln730Lys) c.-906C>A (n.-906C>A) c.2008C>A (p.Gln670Lys) | dbSNP |
2 | g.47800174C= | CA2496049365 | FBXO11,MSH6 | c.1894C= (p.Gln632=) c.2191C= (p.Gln731=) n.2275C= c.1606+585C= (n.1606+585C=) c.2197C= (p.Gln733=) c.628-3246C= (n.628-3246C=) c.1348C= (p.Gln450=) c.1801C= (p.Gln601=) c.169+8021G= (n.169+8021G=) c.*124+7820G= (n.*124+7820G=) c.*1538C= (n.*1538C=) c.1285C= (p.Gln429=) c.2188C= (p.Gln730=) c.-906C= (n.-906C=) c.2008C= (p.Gln670=) | |
2 | g.47800174C>G | CA346751278 | FBXO11,MSH6 | c.1894C>G (p.Gln632Glu) c.2191C>G (p.Gln731Glu) n.2275C>G c.1606+585C>G (n.1606+585C>G) c.2197C>G (p.Gln733Glu) c.628-3246C>G (n.628-3246C>G) c.1348C>G (p.Gln450Glu) c.1801C>G (p.Gln601Glu) c.169+8021G>C (n.169+8021G>C) c.*124+7820G>C (n.*124+7820G>C) c.*1538C>G (n.*1538C>G) c.1285C>G (p.Gln429Glu) c.2188C>G (p.Gln730Glu) c.-906C>G (n.-906C>G) c.2008C>G (p.Gln670Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.47800174C>T | CA009848 | FBXO11,MSH6 | c.1894C>T (p.Gln632Ter) c.2191C>T (p.Gln731Ter) n.2275C>T c.1606+585C>T (n.1606+585C>T) c.2197C>T (p.Gln733Ter) c.628-3246C>T (n.628-3246C>T) c.1348C>T (p.Gln450Ter) c.1801C>T (p.Gln601Ter) c.169+8021G>A (n.169+8021G>A) c.*124+7820G>A (n.*124+7820G>A) c.*1538C>T (n.*1538C>T) c.1285C>T (p.Gln429Ter) c.2188C>T (p.Gln730Ter) c.-906C>T (n.-906C>T) c.2008C>T (p.Gln670Ter) | ClinVar dbSNP |
2 | g.47800174_47800178delinsCAACG | CA2496049364 | FBXO11,MSH6 | c.1894_1898delinsCAACG (p.Gln632=) c.2191_2195delinsCAACG (p.Gln731=) n.2275_2279delinsCAACG c.1606+585_1606+589delinsCAACG (n.1606+585_1606+589delinsCAACG) c.2197_2201delinsCAACG (p.Gln733=) c.628-3246_628-3242delinsCAACG (n.628-3246_628-3242delinsCAACG) c.1348_1352delinsCAACG (p.Gln450=) c.1801_1805delinsCAACG (p.Gln601=) c.169+8017_169+8021delinsCGTTG (n.169+8017_169+8021delinsCGTTG) c.*124+7816_*124+7820delinsCGTTG (n.*124+7816_*124+7820delinsCGTTG) c.*1538_*1542delinsCAACG (n.*1538_*1542delinsCAACG) c.1285_1289delinsCAACG (p.Gln429=) c.2188_2192delinsCAACG (p.Gln730=) c.-906_-902delinsCAACG (n.-906_-902delinsCAACG) c.2008_2012delinsCAACG (p.Gln670=) | |
2 | g.47800175A= | CA2496049368 | FBXO11,MSH6 | c.1895A= (p.Gln632=) c.2192A= (p.Gln731=) n.2276A= c.1606+586A= (n.1606+586A=) c.2198A= (p.Gln733=) c.628-3245A= (n.628-3245A=) c.1349A= (p.Gln450=) c.1802A= (p.Gln601=) c.169+8020T= (n.169+8020T=) c.*124+7819T= (n.*124+7819T=) c.*1539A= (n.*1539A=) c.1286A= (p.Gln429=) c.2189A= (p.Gln730=) c.-905A= (n.-905A=) c.2009A= (p.Gln670=) | |
2 | g.47800175A>C | CA346751291 | FBXO11,MSH6 | c.1895A>C (p.Gln632Pro) c.2192A>C (p.Gln731Pro) n.2276A>C c.1606+586A>C (n.1606+586A>C) c.2198A>C (p.Gln733Pro) c.628-3245A>C (n.628-3245A>C) c.1349A>C (p.Gln450Pro) c.1802A>C (p.Gln601Pro) c.169+8020T>G (n.169+8020T>G) c.*124+7819T>G (n.*124+7819T>G) c.*1539A>C (n.*1539A>C) c.1286A>C (p.Gln429Pro) c.2189A>C (p.Gln730Pro) c.-905A>C (n.-905A>C) c.2009A>C (p.Gln670Pro) | dbSNP |
2 | g.47800175A>G | CA346751298 | FBXO11,MSH6 | c.1895A>G (p.Gln632Arg) c.2192A>G (p.Gln731Arg) n.2276A>G c.1606+586A>G (n.1606+586A>G) c.2198A>G (p.Gln733Arg) c.628-3245A>G (n.628-3245A>G) c.1349A>G (p.Gln450Arg) c.1802A>G (p.Gln601Arg) c.169+8020T>C (n.169+8020T>C) c.*124+7819T>C (n.*124+7819T>C) c.*1539A>G (n.*1539A>G) c.1286A>G (p.Gln429Arg) c.2189A>G (p.Gln730Arg) c.-905A>G (n.-905A>G) c.2009A>G (p.Gln670Arg) | dbSNP |
2 | g.47800175A>T | CA346751300 | FBXO11,MSH6 | c.1895A>T (p.Gln632Leu) c.2192A>T (p.Gln731Leu) n.2276A>T c.1606+586A>T (n.1606+586A>T) c.2198A>T (p.Gln733Leu) c.628-3245A>T (n.628-3245A>T) c.1349A>T (p.Gln450Leu) c.1802A>T (p.Gln601Leu) c.169+8020T>A (n.169+8020T>A) c.*124+7819T>A (n.*124+7819T>A) c.*1539A>T (n.*1539A>T) c.1286A>T (p.Gln429Leu) c.2189A>T (p.Gln730Leu) c.-905A>T (n.-905A>T) c.2009A>T (p.Gln670Leu) | ClinVar dbSNP |
2 | g.47800177_47800180del | CA1139655823 | FBXO11,MSH6 | c.1897_1900del (p.Arg633TrpfsTer3) c.2194_2197del (p.Arg732TrpfsTer3) n.2278_2281del c.1606+588_1606+591del (n.1606+588_1606+591del) c.2200_2203del (p.Arg734TrpfsTer3) c.628-3243_628-3240del (n.628-3243_628-3240del) c.1351_1354del (p.Arg451TrpfsTer3) c.1804_1807del (p.Arg602TrpfsTer3) c.169+8017_169+8020del (n.169+8017_169+8020del) c.*124+7816_*124+7819del (n.*124+7816_*124+7819del) c.*1541_*1544del (n.*1541_*1544del) c.1288_1291del (p.Arg430TrpfsTer3) c.2191_2194del (p.Arg731TrpfsTer3) c.-903_-900del (n.-903_-900del) c.2011_2014del (p.Arg671TrpfsTer3) | ClinVar dbSNP |
2 | g.47800176A= | CA2496049370 | FBXO11,MSH6 | c.1896A= (p.Gln632=) c.2193A= (p.Gln731=) n.2277A= c.1606+587A= (n.1606+587A=) c.2199A= (p.Gln733=) c.628-3244A= (n.628-3244A=) c.1350A= (p.Gln450=) c.1803A= (p.Gln601=) c.169+8019T= (n.169+8019T=) c.*124+7818T= (n.*124+7818T=) c.*1540A= (n.*1540A=) c.1287A= (p.Gln429=) c.2190A= (p.Gln730=) c.-904A= (n.-904A=) c.2010A= (p.Gln670=) | |
2 | g.47800176A>C | CA346751301 | FBXO11,MSH6 | c.1896A>C (p.Gln632His) c.2193A>C (p.Gln731His) n.2277A>C c.1606+587A>C (n.1606+587A>C) c.2199A>C (p.Gln733His) c.628-3244A>C (n.628-3244A>C) c.1350A>C (p.Gln450His) c.1803A>C (p.Gln601His) c.169+8019T>G (n.169+8019T>G) c.*124+7818T>G (n.*124+7818T>G) c.*1540A>C (n.*1540A>C) c.1287A>C (p.Gln429His) c.2190A>C (p.Gln730His) c.-904A>C (n.-904A>C) c.2010A>C (p.Gln670His) | ClinVar dbSNP |
2 | g.47800176A>G | CA16610922 | FBXO11,MSH6 | c.1896A>G (p.Gln632=) c.2193A>G (p.Gln731=) n.2277A>G c.1606+587A>G (n.1606+587A>G) c.2199A>G (p.Gln733=) c.628-3244A>G (n.628-3244A>G) c.1350A>G (p.Gln450=) c.1803A>G (p.Gln601=) c.169+8019T>C (n.169+8019T>C) c.*124+7818T>C (n.*124+7818T>C) c.*1540A>G (n.*1540A>G) c.1287A>G (p.Gln429=) c.2190A>G (p.Gln730=) c.-904A>G (n.-904A>G) c.2010A>G (p.Gln670=) | ClinVar dbSNP gnomAD v4 |
2 | g.47800176A>T | CA346751304 | FBXO11,MSH6 | c.1896A>T (p.Gln632His) c.2193A>T (p.Gln731His) n.2277A>T c.1606+587A>T (n.1606+587A>T) c.2199A>T (p.Gln733His) c.628-3244A>T (n.628-3244A>T) c.1350A>T (p.Gln450His) c.1803A>T (p.Gln601His) c.169+8019T>A (n.169+8019T>A) c.*124+7818T>A (n.*124+7818T>A) c.*1540A>T (n.*1540A>T) c.1287A>T (p.Gln429His) c.2190A>T (p.Gln730His) c.-904A>T (n.-904A>T) c.2010A>T (p.Gln670His) | dbSNP |
2 | g.47800177del | CA2580067792 | FBXO11,MSH6 | c.1897del (p.Arg633GlufsTer4) c.2194del (p.Arg732GlufsTer4) n.2278del c.1606+588del (n.1606+588del) c.2200del (p.Arg734GlufsTer4) c.628-3243del (n.628-3243del) c.1351del (p.Arg451GlufsTer4) c.1804del (p.Arg602GlufsTer4) c.169+8018del (n.169+8018del) c.*124+7817del (n.*124+7817del) c.*1541del (n.*1541del) c.1288del (p.Arg430GlufsTer4) c.2191del (p.Arg731GlufsTer4) c.-903del (n.-903del) c.2011del (p.Arg671GlufsTer4) | ClinVar |
2 | g.47800177C>A | CA068593 | FBXO11,MSH6 | c.1897C>A (p.Arg633=) c.2194C>A (p.Arg732=) n.2278C>A c.1606+588C>A (n.1606+588C>A) c.2200C>A (p.Arg734=) c.628-3243C>A (n.628-3243C>A) c.1351C>A (p.Arg451=) c.1804C>A (p.Arg602=) c.169+8018G>T (n.169+8018G>T) c.*124+7817G>T (n.*124+7817G>T) c.*1541C>A (n.*1541C>A) c.1288C>A (p.Arg430=) c.2191C>A (p.Arg731=) c.-903C>A (n.-903C>A) c.2011C>A (p.Arg671=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47800177C= | CA2496049372 | FBXO11,MSH6 | c.1897C= (p.Arg633=) c.2194C= (p.Arg732=) n.2278C= c.1606+588C= (n.1606+588C=) c.2200C= (p.Arg734=) c.628-3243C= (n.628-3243C=) c.1351C= (p.Arg451=) c.1804C= (p.Arg602=) c.169+8018G= (n.169+8018G=) c.*124+7817G= (n.*124+7817G=) c.*1541C= (n.*1541C=) c.1288C= (p.Arg430=) c.2191C= (p.Arg731=) c.-903C= (n.-903C=) c.2011C= (p.Arg671=) | |
2 | g.47800177C>G | CA346751311 | FBXO11,MSH6 | c.1897C>G (p.Arg633Gly) c.2194C>G (p.Arg732Gly) n.2278C>G c.1606+588C>G (n.1606+588C>G) c.2200C>G (p.Arg734Gly) c.628-3243C>G (n.628-3243C>G) c.1351C>G (p.Arg451Gly) c.1804C>G (p.Arg602Gly) c.169+8018G>C (n.169+8018G>C) c.*124+7817G>C (n.*124+7817G>C) c.*1541C>G (n.*1541C>G) c.1288C>G (p.Arg430Gly) c.2191C>G (p.Arg731Gly) c.-903C>G (n.-903C>G) c.2011C>G (p.Arg671Gly) | dbSNP |
2 | g.47800177C>T | CA009856 | FBXO11,MSH6 | c.1897C>T (p.Arg633Ter) c.2194C>T (p.Arg732Ter) n.2278C>T c.1606+588C>T (n.1606+588C>T) c.2200C>T (p.Arg734Ter) c.628-3243C>T (n.628-3243C>T) c.1351C>T (p.Arg451Ter) c.1804C>T (p.Arg602Ter) c.169+8018G>A (n.169+8018G>A) c.*124+7817G>A (n.*124+7817G>A) c.*1541C>T (n.*1541C>T) c.1288C>T (p.Arg430Ter) c.2191C>T (p.Arg731Ter) c.-903C>T (n.-903C>T) c.2011C>T (p.Arg671Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47800178del | CA2739274417 | FBXO11,MSH6 | c.1898del (p.Arg633GlnfsTer4) c.2195del (p.Arg732GlnfsTer4) n.2279del c.1606+589del (n.1606+589del) c.2201del (p.Arg734GlnfsTer4) c.628-3242del (n.628-3242del) c.1352del (p.Arg451GlnfsTer4) c.1805del (p.Arg602GlnfsTer4) c.169+8017del (n.169+8017del) c.*124+7816del (n.*124+7816del) c.*1542del (n.*1542del) c.1289del (p.Arg430GlnfsTer4) c.2192del (p.Arg731GlnfsTer4) c.-902del (n.-902del) c.2012del (p.Arg671GlnfsTer4) | ClinVar |
2 | g.47800178G>A | CA068599 | FBXO11,MSH6 | c.1898G>A (p.Arg633Gln) c.2195G>A (p.Arg732Gln) n.2279G>A c.1606+589G>A (n.1606+589G>A) c.2201G>A (p.Arg734Gln) c.628-3242G>A (n.628-3242G>A) c.1352G>A (p.Arg451Gln) c.1805G>A (p.Arg602Gln) c.169+8017C>T (n.169+8017C>T) c.*124+7816C>T (n.*124+7816C>T) c.*1542G>A (n.*1542G>A) c.1289G>A (p.Arg430Gln) c.2192G>A (p.Arg731Gln) c.-902G>A (n.-902G>A) c.2012G>A (p.Arg671Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47800178G>C | CA16617670 | FBXO11,MSH6 | c.1898G>C (p.Arg633Pro) c.2195G>C (p.Arg732Pro) n.2279G>C c.1606+589G>C (n.1606+589G>C) c.2201G>C (p.Arg734Pro) c.628-3242G>C (n.628-3242G>C) c.1352G>C (p.Arg451Pro) c.1805G>C (p.Arg602Pro) c.169+8017C>G (n.169+8017C>G) c.*124+7816C>G (n.*124+7816C>G) c.*1542G>C (n.*1542G>C) c.1289G>C (p.Arg430Pro) c.2192G>C (p.Arg731Pro) c.-902G>C (n.-902G>C) c.2012G>C (p.Arg671Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47800178G= | CA2496049375 | FBXO11,MSH6 | c.1898G= (p.Arg633=) c.2195G= (p.Arg732=) n.2279G= c.1606+589G= (n.1606+589G=) c.2201G= (p.Arg734=) c.628-3242G= (n.628-3242G=) c.1352G= (p.Arg451=) c.1805G= (p.Arg602=) c.169+8017C= (n.169+8017C=) c.*124+7816C= (n.*124+7816C=) c.*1542G= (n.*1542G=) c.1289G= (p.Arg430=) c.2192G= (p.Arg731=) c.-902G= (n.-902G=) c.2012G= (p.Arg671=) | |
2 | g.47800178G>T | CA346751323 | FBXO11,MSH6 | c.1898G>T (p.Arg633Leu) c.2195G>T (p.Arg732Leu) n.2279G>T c.1606+589G>T (n.1606+589G>T) c.2201G>T (p.Arg734Leu) c.628-3242G>T (n.628-3242G>T) c.1352G>T (p.Arg451Leu) c.1805G>T (p.Arg602Leu) c.169+8017C>A (n.169+8017C>A) c.*124+7816C>A (n.*124+7816C>A) c.*1542G>T (n.*1542G>T) c.1289G>T (p.Arg430Leu) c.2192G>T (p.Arg731Leu) c.-902G>T (n.-902G>T) c.2012G>T (p.Arg671Leu) | dbSNP |
2 | g.47800179A>C | CA426121706 | FBXO11,MSH6 | c.1899A>C (p.Arg633=) c.2196A>C (p.Arg732=) n.2280A>C c.1606+590A>C (n.1606+590A>C) c.2202A>C (p.Arg734=) c.628-3241A>C (n.628-3241A>C) c.1353A>C (p.Arg451=) c.1806A>C (p.Arg602=) c.169+8016T>G (n.169+8016T>G) c.*124+7815T>G (n.*124+7815T>G) c.*1543A>C (n.*1543A>C) c.1290A>C (p.Arg430=) c.2193A>C (p.Arg731=) c.-901A>C (n.-901A>C) c.2013A>C (p.Arg671=) | dbSNP |
2 | g.47800179A>G | CA426121707 | FBXO11,MSH6 | c.1899A>G (p.Arg633=) c.2196A>G (p.Arg732=) n.2280A>G c.1606+590A>G (n.1606+590A>G) c.2202A>G (p.Arg734=) c.628-3241A>G (n.628-3241A>G) c.1353A>G (p.Arg451=) c.1806A>G (p.Arg602=) c.169+8016T>C (n.169+8016T>C) c.*124+7815T>C (n.*124+7815T>C) c.*1543A>G (n.*1543A>G) c.1290A>G (p.Arg430=) c.2193A>G (p.Arg731=) c.-901A>G (n.-901A>G) c.2013A>G (p.Arg671=) | ClinVar |
2 | g.47800179A>T | CA426121708 | FBXO11,MSH6 | c.1899A>T (p.Arg633=) c.2196A>T (p.Arg732=) n.2280A>T c.1606+590A>T (n.1606+590A>T) c.2202A>T (p.Arg734=) c.628-3241A>T (n.628-3241A>T) c.1353A>T (p.Arg451=) c.1806A>T (p.Arg602=) c.169+8016T>A (n.169+8016T>A) c.*124+7815T>A (n.*124+7815T>A) c.*1543A>T (n.*1543A>T) c.1290A>T (p.Arg430=) c.2193A>T (p.Arg731=) c.-901A>T (n.-901A>T) c.2013A>T (p.Arg671=) | dbSNP |
2 | g.47800180del | CA2580067793 | FBXO11,MSH6 | c.1900del (p.Met634TrpfsTer3) c.2197del (p.Met733TrpfsTer3) n.2281del c.1606+591del (n.1606+591del) c.2203del (p.Met735TrpfsTer3) c.628-3240del (n.628-3240del) c.1354del (p.Met452TrpfsTer3) c.1807del (p.Met603TrpfsTer3) c.169+8016del (n.169+8016del) c.*124+7815del (n.*124+7815del) c.*1544del (n.*1544del) c.1291del (p.Met431TrpfsTer3) c.2194del (p.Met732TrpfsTer3) c.-900del (n.-900del) c.2014del (p.Met672TrpfsTer3) | ClinVar |
2 | g.47800180A= | CA2496049378 | FBXO11,MSH6 | c.1900A= (p.Met634=) c.2197A= (p.Met733=) n.2281A= c.1606+591A= (n.1606+591A=) c.2203A= (p.Met735=) c.628-3240A= (n.628-3240A=) c.1354A= (p.Met452=) c.1807A= (p.Met603=) c.169+8015T= (n.169+8015T=) c.*124+7814T= (n.*124+7814T=) c.*1544A= (n.*1544A=) c.1291A= (p.Met431=) c.2194A= (p.Met732=) c.-900A= (n.-900A=) c.2014A= (p.Met672=) | |
2 | g.47800180A>C | CA346751327 | FBXO11,MSH6 | c.1900A>C (p.Met634Leu) c.2197A>C (p.Met733Leu) n.2281A>C c.1606+591A>C (n.1606+591A>C) c.2203A>C (p.Met735Leu) c.628-3240A>C (n.628-3240A>C) c.1354A>C (p.Met452Leu) c.1807A>C (p.Met603Leu) c.169+8015T>G (n.169+8015T>G) c.*124+7814T>G (n.*124+7814T>G) c.*1544A>C (n.*1544A>C) c.1291A>C (p.Met431Leu) c.2194A>C (p.Met732Leu) c.-900A>C (n.-900A>C) c.2014A>C (p.Met672Leu) | |
2 | g.47800180A>G | CA346751333 | FBXO11,MSH6 | c.1900A>G (p.Met634Val) c.2197A>G (p.Met733Val) n.2281A>G c.1606+591A>G (n.1606+591A>G) c.2203A>G (p.Met735Val) c.628-3240A>G (n.628-3240A>G) c.1354A>G (p.Met452Val) c.1807A>G (p.Met603Val) c.169+8015T>C (n.169+8015T>C) c.*124+7814T>C (n.*124+7814T>C) c.*1544A>G (n.*1544A>G) c.1291A>G (p.Met431Val) c.2194A>G (p.Met732Val) c.-900A>G (n.-900A>G) c.2014A>G (p.Met672Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47800180A>T | CA346751336 | FBXO11,MSH6 | c.1900A>T (p.Met634Leu) c.2197A>T (p.Met733Leu) n.2281A>T c.1606+591A>T (n.1606+591A>T) c.2203A>T (p.Met735Leu) c.628-3240A>T (n.628-3240A>T) c.1354A>T (p.Met452Leu) c.1807A>T (p.Met603Leu) c.169+8015T>A (n.169+8015T>A) c.*124+7814T>A (n.*124+7814T>A) c.*1544A>T (n.*1544A>T) c.1291A>T (p.Met431Leu) c.2194A>T (p.Met732Leu) c.-900A>T (n.-900A>T) c.2014A>T (p.Met672Leu) | dbSNP |
2 | g.47800181T>A | CA346751339 | FBXO11,MSH6 | c.1901T>A (p.Met634Lys) c.2198T>A (p.Met733Lys) n.2282T>A c.1606+592T>A (n.1606+592T>A) c.2204T>A (p.Met735Lys) c.628-3239T>A (n.628-3239T>A) c.1355T>A (p.Met452Lys) c.1808T>A (p.Met603Lys) c.169+8014A>T (n.169+8014A>T) c.*124+7813A>T (n.*124+7813A>T) c.*1545T>A (n.*1545T>A) c.1292T>A (p.Met431Lys) c.2195T>A (p.Met732Lys) c.-899T>A (n.-899T>A) c.2015T>A (p.Met672Lys) | |
2 | g.47800181T>C | CA346751342 | FBXO11,MSH6 | c.1901T>C (p.Met634Thr) c.2198T>C (p.Met733Thr) n.2282T>C c.1606+592T>C (n.1606+592T>C) c.2204T>C (p.Met735Thr) c.628-3239T>C (n.628-3239T>C) c.1355T>C (p.Met452Thr) c.1808T>C (p.Met603Thr) c.169+8014A>G (n.169+8014A>G) c.*124+7813A>G (n.*124+7813A>G) c.*1545T>C (n.*1545T>C) c.1292T>C (p.Met431Thr) c.2195T>C (p.Met732Thr) c.-899T>C (n.-899T>C) c.2015T>C (p.Met672Thr) | ClinVar |
2 | g.47800181T>G | CA346751344 | FBXO11,MSH6 | c.1901T>G (p.Met634Arg) c.2198T>G (p.Met733Arg) n.2282T>G c.1606+592T>G (n.1606+592T>G) c.2204T>G (p.Met735Arg) c.628-3239T>G (n.628-3239T>G) c.1355T>G (p.Met452Arg) c.1808T>G (p.Met603Arg) c.169+8014A>C (n.169+8014A>C) c.*124+7813A>C (n.*124+7813A>C) c.*1545T>G (n.*1545T>G) c.1292T>G (p.Met431Arg) c.2195T>G (p.Met732Arg) c.-899T>G (n.-899T>G) c.2015T>G (p.Met672Arg) | |
2 | g.47800181_47800183delinsTGG | CA2496049380 | FBXO11,MSH6 | c.1901_1903delinsTGG (p.Met634=) c.2198_2200delinsTGG (p.Met733=) n.2282_2284delinsTGG c.1606+592_1606+594delinsTGG (n.1606+592_1606+594delinsTGG) c.2204_2206delinsTGG (p.Met735=) c.628-3239_628-3237delinsTGG (n.628-3239_628-3237delinsTGG) c.1355_1357delinsTGG (p.Met452=) c.1808_1810delinsTGG (p.Met603=) c.169+8012_169+8014delinsCCA (n.169+8012_169+8014delinsCCA) c.*124+7811_*124+7813delinsCCA (n.*124+7811_*124+7813delinsCCA) c.*1545_*1547delinsTGG (n.*1545_*1547delinsTGG) c.1292_1294delinsTGG (p.Met431=) c.2195_2197delinsTGG (p.Met732=) c.-899_-897delinsTGG (n.-899_-897delinsTGG) c.2015_2017delinsTGG (p.Met672=) | |
2 | g.47800181_47800184del | CA2749799224 | FBXO11,MSH6 | c.1901_1904del (p.Met634SerfsTer2) c.2198_2201del (p.Met733SerfsTer2) n.2282_2285del c.1606+592_1606+595del (n.1606+592_1606+595del) c.2204_2207del (p.Met735SerfsTer2) c.628-3239_628-3236del (n.628-3239_628-3236del) c.1355_1358del (p.Met452SerfsTer2) c.1808_1811del (p.Met603SerfsTer2) c.169+8011_169+8014del (n.169+8011_169+8014del) c.*124+7810_*124+7813del (n.*124+7810_*124+7813del) c.*1545_*1548del (n.*1545_*1548del) c.1292_1295del (p.Met431SerfsTer2) c.2195_2198del (p.Met732SerfsTer2) c.-899_-896del (n.-899_-896del) c.2015_2018del (p.Met672SerfsTer2) | |
2 | g.47800182G>A | CA346751350 | FBXO11,MSH6 | c.1902G>A (p.Met634Ile) c.2199G>A (p.Met733Ile) n.2283G>A c.1606+593G>A (n.1606+593G>A) c.2205G>A (p.Met735Ile) c.628-3238G>A (n.628-3238G>A) c.1356G>A (p.Met452Ile) c.1809G>A (p.Met603Ile) c.169+8013C>T (n.169+8013C>T) c.*124+7812C>T (n.*124+7812C>T) c.*1546G>A (n.*1546G>A) c.1293G>A (p.Met431Ile) c.2196G>A (p.Met732Ile) c.-898G>A (n.-898G>A) c.2016G>A (p.Met672Ile) | ClinVar dbSNP |
2 | g.47800182G>C | CA346751357 | FBXO11,MSH6 | c.1902G>C (p.Met634Ile) c.2199G>C (p.Met733Ile) n.2283G>C c.1606+593G>C (n.1606+593G>C) c.2205G>C (p.Met735Ile) c.628-3238G>C (n.628-3238G>C) c.1356G>C (p.Met452Ile) c.1809G>C (p.Met603Ile) c.169+8013C>G (n.169+8013C>G) c.*124+7812C>G (n.*124+7812C>G) c.*1546G>C (n.*1546G>C) c.1293G>C (p.Met431Ile) c.2196G>C (p.Met732Ile) c.-898G>C (n.-898G>C) c.2016G>C (p.Met672Ile) | ClinVar dbSNP |
2 | g.47800182G= | CA2496049382 | FBXO11,MSH6 | c.1902G= (p.Met634=) c.2199G= (p.Met733=) n.2283G= c.1606+593G= (n.1606+593G=) c.2205G= (p.Met735=) c.628-3238G= (n.628-3238G=) c.1356G= (p.Met452=) c.1809G= (p.Met603=) c.169+8013C= (n.169+8013C=) c.*124+7812C= (n.*124+7812C=) c.*1546G= (n.*1546G=) c.1293G= (p.Met431=) c.2196G= (p.Met732=) c.-898G= (n.-898G=) c.2016G= (p.Met672=) | |
2 | g.47800182G>T | CA346751360 | FBXO11,MSH6 | c.1902G>T (p.Met634Ile) c.2199G>T (p.Met733Ile) n.2283G>T c.1606+593G>T (n.1606+593G>T) c.2205G>T (p.Met735Ile) c.628-3238G>T (n.628-3238G>T) c.1356G>T (p.Met452Ile) c.1809G>T (p.Met603Ile) c.169+8013C>A (n.169+8013C>A) c.*124+7812C>A (n.*124+7812C>A) c.*1546G>T (n.*1546G>T) c.1293G>T (p.Met431Ile) c.2196G>T (p.Met732Ile) c.-898G>T (n.-898G>T) c.2016G>T (p.Met672Ile) | |
2 | g.47800182_47800183del | CA532705471 | FBXO11,MSH6 | c.1902_1903del (p.Met634IlefsTer22) c.2199_2200del (p.Met733IlefsTer22) n.2283_2284del c.1606+593_1606+594del (n.1606+593_1606+594del) c.2205_2206del (p.Met735IlefsTer22) c.628-3238_628-3237del (n.628-3238_628-3237del) c.1356_1357del (p.Met452IlefsTer22) c.1809_1810del (p.Met603IlefsTer22) c.169+8012_169+8013del (n.169+8012_169+8013del) c.*124+7811_*124+7812del (n.*124+7811_*124+7812del) c.*1546_*1547del (n.*1546_*1547del) c.1293_1294del (p.Met431IlefsTer22) c.2196_2197del (p.Met732IlefsTer22) c.-898_-897del (n.-898_-897del) c.2016_2017del (p.Met672IlefsTer22) | ClinVar dbSNP gnomAD v2 |
2 | g.47800183G>A | CA009862 | FBXO11,MSH6 | c.1903G>A (p.Val635Met) c.2200G>A (p.Val734Met) n.2284G>A c.1606+594G>A (n.1606+594G>A) c.2206G>A (p.Val736Met) c.628-3237G>A (n.628-3237G>A) c.1357G>A (p.Val453Met) c.1810G>A (p.Val604Met) c.169+8012C>T (n.169+8012C>T) c.*124+7811C>T (n.*124+7811C>T) c.*1547G>A (n.*1547G>A) c.1294G>A (p.Val432Met) c.2197G>A (p.Val733Met) c.-897G>A (n.-897G>A) c.2017G>A (p.Val673Met) | ClinVar dbSNP |
2 | g.47800183G>C | CA346751368 | FBXO11,MSH6 | c.1903G>C (p.Val635Leu) c.2200G>C (p.Val734Leu) n.2284G>C c.1606+594G>C (n.1606+594G>C) c.2206G>C (p.Val736Leu) c.628-3237G>C (n.628-3237G>C) c.1357G>C (p.Val453Leu) c.1810G>C (p.Val604Leu) c.169+8012C>G (n.169+8012C>G) c.*124+7811C>G (n.*124+7811C>G) c.*1547G>C (n.*1547G>C) c.1294G>C (p.Val432Leu) c.2197G>C (p.Val733Leu) c.-897G>C (n.-897G>C) c.2017G>C (p.Val673Leu) | ClinVar dbSNP |
2 | g.47800183G= | CA2496049384 | FBXO11,MSH6 | c.1903G= (p.Val635=) c.2200G= (p.Val734=) n.2284G= c.1606+594G= (n.1606+594G=) c.2206G= (p.Val736=) c.628-3237G= (n.628-3237G=) c.1357G= (p.Val453=) c.1810G= (p.Val604=) c.169+8012C= (n.169+8012C=) c.*124+7811C= (n.*124+7811C=) c.*1547G= (n.*1547G=) c.1294G= (p.Val432=) c.2197G= (p.Val733=) c.-897G= (n.-897G=) c.2017G= (p.Val673=) | |
2 | g.47800183G>T | CA346751362 | FBXO11,MSH6 | c.1903G>T (p.Val635Leu) c.2200G>T (p.Val734Leu) n.2284G>T c.1606+594G>T (n.1606+594G>T) c.2206G>T (p.Val736Leu) c.628-3237G>T (n.628-3237G>T) c.1357G>T (p.Val453Leu) c.1810G>T (p.Val604Leu) c.169+8012C>A (n.169+8012C>A) c.*124+7811C>A (n.*124+7811C>A) c.*1547G>T (n.*1547G>T) c.1294G>T (p.Val432Leu) c.2197G>T (p.Val733Leu) c.-897G>T (n.-897G>T) c.2017G>T (p.Val673Leu) | dbSNP |
2 | g.47800183_47800190delinsGTGCTAGA | CA2496049385 | FBXO11,MSH6 | c.1903_1910delinsGTGCTAGA (p.Val635=) c.2200_2207delinsGTGCTAGA (p.Val734=) n.2284_2291delinsGTGCTAGA c.1606+594_1606+601delinsGTGCTAGA (n.1606+594_1606+601delinsGTGCTAGA) c.2206_2213delinsGTGCTAGA (p.Val736=) c.628-3237_628-3230delinsGTGCTAGA (n.628-3237_628-3230delinsGTGCTAGA) c.1357_1364delinsGTGCTAGA (p.Val453=) c.1810_1817delinsGTGCTAGA (p.Val604=) c.169+8005_169+8012delinsTCTAGCAC (n.169+8005_169+8012delinsTCTAGCAC) c.*124+7804_*124+7811delinsTCTAGCAC (n.*124+7804_*124+7811delinsTCTAGCAC) c.*1547_*1554delinsGTGCTAGA (n.*1547_*1554delinsGTGCTAGA) c.1294_1301delinsGTGCTAGA (p.Val432=) c.2197_2204delinsGTGCTAGA (p.Val733=) c.-897_-890delinsGTGCTAGA (n.-897_-890delinsGTGCTAGA) c.2017_2024delinsGTGCTAGA (p.Val673=) | |
2 | g.47800184T>A | CA16611143 | FBXO11,MSH6 | c.1904T>A (p.Val635Glu) c.2201T>A (p.Val734Glu) n.2285T>A c.1606+595T>A (n.1606+595T>A) c.2207T>A (p.Val736Glu) c.628-3236T>A (n.628-3236T>A) c.1358T>A (p.Val453Glu) c.1811T>A (p.Val604Glu) c.169+8011A>T (n.169+8011A>T) c.*124+7810A>T (n.*124+7810A>T) c.*1548T>A (n.*1548T>A) c.1295T>A (p.Val432Glu) c.2198T>A (p.Val733Glu) c.-896T>A (n.-896T>A) c.2018T>A (p.Val673Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.47800184T>C | CA346751374 | FBXO11,MSH6 | c.1904T>C (p.Val635Ala) c.2201T>C (p.Val734Ala) n.2285T>C c.1606+595T>C (n.1606+595T>C) c.2207T>C (p.Val736Ala) c.628-3236T>C (n.628-3236T>C) c.1358T>C (p.Val453Ala) c.1811T>C (p.Val604Ala) c.169+8011A>G (n.169+8011A>G) c.*124+7810A>G (n.*124+7810A>G) c.*1548T>C (n.*1548T>C) c.1295T>C (p.Val432Ala) c.2198T>C (p.Val733Ala) c.-896T>C (n.-896T>C) c.2018T>C (p.Val673Ala) | |
2 | g.47800184T>G | CA346751377 | FBXO11,MSH6 | c.1904T>G (p.Val635Gly) c.2201T>G (p.Val734Gly) n.2285T>G c.1606+595T>G (n.1606+595T>G) c.2207T>G (p.Val736Gly) c.628-3236T>G (n.628-3236T>G) c.1358T>G (p.Val453Gly) c.1811T>G (p.Val604Gly) c.169+8011A>C (n.169+8011A>C) c.*124+7810A>C (n.*124+7810A>C) c.*1548T>G (n.*1548T>G) c.1295T>G (p.Val432Gly) c.2198T>G (p.Val733Gly) c.-896T>G (n.-896T>G) c.2018T>G (p.Val673Gly) | dbSNP |
2 | g.47800184T= | CA2496049388 | FBXO11,MSH6 | c.1904T= (p.Val635=) c.2201T= (p.Val734=) n.2285T= c.1606+595T= (n.1606+595T=) c.2207T= (p.Val736=) c.628-3236T= (n.628-3236T=) c.1358T= (p.Val453=) c.1811T= (p.Val604=) c.169+8011A= (n.169+8011A=) c.*124+7810A= (n.*124+7810A=) c.*1548T= (n.*1548T=) c.1295T= (p.Val432=) c.2198T= (p.Val733=) c.-896T= (n.-896T=) c.2018T= (p.Val673=) | |
2 | g.47800187_47800193del | CA915943928 | FBXO11,MSH6 | c.1907_1913del (p.Leu636GlnfsTer2) c.2204_2210del (p.Leu735GlnfsTer2) n.2288_2294del c.1606+598_1606+604del (n.1606+598_1606+604del) c.2210_2216del (p.Leu737GlnfsTer2) c.628-3233_628-3227del (n.628-3233_628-3227del) c.1361_1367del (p.Leu454GlnfsTer2) c.1814_1820del (p.Leu605GlnfsTer2) c.169+8005_169+8011del (n.169+8005_169+8011del) c.*124+7804_*124+7810del (n.*124+7804_*124+7810del) c.*1551_*1557del (n.*1551_*1557del) c.1298_1304del (p.Leu433GlnfsTer2) c.2201_2207del (p.Leu734GlnfsTer2) c.-893_-887del (n.-893_-887del) c.2021_2027del (p.Leu674GlnfsTer2) | ClinVar dbSNP |
2 | g.47800185G>A | CA426121730 | FBXO11,MSH6 | c.1905G>A (p.Val635=) c.2202G>A (p.Val734=) n.2286G>A c.1606+596G>A (n.1606+596G>A) c.2208G>A (p.Val736=) c.628-3235G>A (n.628-3235G>A) c.1359G>A (p.Val453=) c.1812G>A (p.Val604=) c.169+8010C>T (n.169+8010C>T) c.*124+7809C>T (n.*124+7809C>T) c.*1549G>A (n.*1549G>A) c.1296G>A (p.Val432=) c.2199G>A (p.Val733=) c.-895G>A (n.-895G>A) c.2019G>A (p.Val673=) | ClinVar dbSNP |
2 | g.47800185G>C | CA426121732 | FBXO11,MSH6 | c.1905G>C (p.Val635=) c.2202G>C (p.Val734=) n.2286G>C c.1606+596G>C (n.1606+596G>C) c.2208G>C (p.Val736=) c.628-3235G>C (n.628-3235G>C) c.1359G>C (p.Val453=) c.1812G>C (p.Val604=) c.169+8010C>G (n.169+8010C>G) c.*124+7809C>G (n.*124+7809C>G) c.*1549G>C (n.*1549G>C) c.1296G>C (p.Val432=) c.2199G>C (p.Val733=) c.-895G>C (n.-895G>C) c.2019G>C (p.Val673=) | dbSNP gnomAD v4 |
2 | g.47800185G>T | CA426121733 | FBXO11,MSH6 | c.1905G>T (p.Val635=) c.2202G>T (p.Val734=) n.2286G>T c.1606+596G>T (n.1606+596G>T) c.2208G>T (p.Val736=) c.628-3235G>T (n.628-3235G>T) c.1359G>T (p.Val453=) c.1812G>T (p.Val604=) c.169+8010C>A (n.169+8010C>A) c.*124+7809C>A (n.*124+7809C>A) c.*1549G>T (n.*1549G>T) c.1296G>T (p.Val432=) c.2199G>T (p.Val733=) c.-895G>T (n.-895G>T) c.2019G>T (p.Val673=) | dbSNP |
2 | g.47800186C>A | CA009870 | FBXO11,MSH6 | c.1906C>A (p.Leu636Ile) c.2203C>A (p.Leu735Ile) n.2287C>A c.1606+597C>A (n.1606+597C>A) c.2209C>A (p.Leu737Ile) c.628-3234C>A (n.628-3234C>A) c.1360C>A (p.Leu454Ile) c.1813C>A (p.Leu605Ile) c.169+8009G>T (n.169+8009G>T) c.*124+7808G>T (n.*124+7808G>T) c.*1550C>A (n.*1550C>A) c.1297C>A (p.Leu433Ile) c.2200C>A (p.Leu734Ile) c.-894C>A (n.-894C>A) c.2020C>A (p.Leu674Ile) | ClinVar dbSNP |
2 | g.47800186C= | CA2496049391 | FBXO11,MSH6 | c.1906C= (p.Leu636=) c.2203C= (p.Leu735=) n.2287C= c.1606+597C= (n.1606+597C=) c.2209C= (p.Leu737=) c.628-3234C= (n.628-3234C=) c.1360C= (p.Leu454=) c.1813C= (p.Leu605=) c.169+8009G= (n.169+8009G=) c.*124+7808G= (n.*124+7808G=) c.*1550C= (n.*1550C=) c.1297C= (p.Leu433=) c.2200C= (p.Leu734=) c.-894C= (n.-894C=) c.2020C= (p.Leu674=) | |
2 | g.47800186C>G | CA346751383 | FBXO11,MSH6 | c.1906C>G (p.Leu636Val) c.2203C>G (p.Leu735Val) n.2287C>G c.1606+597C>G (n.1606+597C>G) c.2209C>G (p.Leu737Val) c.628-3234C>G (n.628-3234C>G) c.1360C>G (p.Leu454Val) c.1813C>G (p.Leu605Val) c.169+8009G>C (n.169+8009G>C) c.*124+7808G>C (n.*124+7808G>C) c.*1550C>G (n.*1550C>G) c.1297C>G (p.Leu433Val) c.2200C>G (p.Leu734Val) c.-894C>G (n.-894C>G) c.2020C>G (p.Leu674Val) | ClinVar dbSNP |
2 | g.47800186C>T | CA426121734 | FBXO11,MSH6 | c.1906C>T (p.Leu636=) c.2203C>T (p.Leu735=) n.2287C>T c.1606+597C>T (n.1606+597C>T) c.2209C>T (p.Leu737=) c.628-3234C>T (n.628-3234C>T) c.1360C>T (p.Leu454=) c.1813C>T (p.Leu605=) c.169+8009G>A (n.169+8009G>A) c.*124+7808G>A (n.*124+7808G>A) c.*1550C>T (n.*1550C>T) c.1297C>T (p.Leu433=) c.2200C>T (p.Leu734=) c.-894C>T (n.-894C>T) c.2020C>T (p.Leu674=) | ClinVar dbSNP |
2 | g.47800187T>A | CA346751390 | FBXO11,MSH6 | c.1907T>A (p.Leu636Gln) c.2204T>A (p.Leu735Gln) n.2288T>A c.1606+598T>A (n.1606+598T>A) c.2210T>A (p.Leu737Gln) c.628-3233T>A (n.628-3233T>A) c.1361T>A (p.Leu454Gln) c.1814T>A (p.Leu605Gln) c.169+8008A>T (n.169+8008A>T) c.*124+7807A>T (n.*124+7807A>T) c.*1551T>A (n.*1551T>A) c.1298T>A (p.Leu433Gln) c.2201T>A (p.Leu734Gln) c.-893T>A (n.-893T>A) c.2021T>A (p.Leu674Gln) | dbSNP |
2 | g.47800187T>C | CA346751386 | FBXO11,MSH6 | c.1907T>C (p.Leu636Pro) c.2204T>C (p.Leu735Pro) n.2288T>C c.1606+598T>C (n.1606+598T>C) c.2210T>C (p.Leu737Pro) c.628-3233T>C (n.628-3233T>C) c.1361T>C (p.Leu454Pro) c.1814T>C (p.Leu605Pro) c.169+8008A>G (n.169+8008A>G) c.*124+7807A>G (n.*124+7807A>G) c.*1551T>C (n.*1551T>C) c.1298T>C (p.Leu433Pro) c.2201T>C (p.Leu734Pro) c.-893T>C (n.-893T>C) c.2021T>C (p.Leu674Pro) | ClinVar dbSNP |
2 | g.47800187T>G | CA346751388 | FBXO11,MSH6 | c.1907T>G (p.Leu636Arg) c.2204T>G (p.Leu735Arg) n.2288T>G c.1606+598T>G (n.1606+598T>G) c.2210T>G (p.Leu737Arg) c.628-3233T>G (n.628-3233T>G) c.1361T>G (p.Leu454Arg) c.1814T>G (p.Leu605Arg) c.169+8008A>C (n.169+8008A>C) c.*124+7807A>C (n.*124+7807A>C) c.*1551T>G (n.*1551T>G) c.1298T>G (p.Leu433Arg) c.2201T>G (p.Leu734Arg) c.-893T>G (n.-893T>G) c.2021T>G (p.Leu674Arg) | |
2 | g.47800187T= | CA2496049393 | FBXO11,MSH6 | c.1907T= (p.Leu636=) c.2204T= (p.Leu735=) n.2288T= c.1606+598T= (n.1606+598T=) c.2210T= (p.Leu737=) c.628-3233T= (n.628-3233T=) c.1361T= (p.Leu454=) c.1814T= (p.Leu605=) c.169+8008A= (n.169+8008A=) c.*124+7807A= (n.*124+7807A=) c.*1551T= (n.*1551T=) c.1298T= (p.Leu433=) c.2201T= (p.Leu734=) c.-893T= (n.-893T=) c.2021T= (p.Leu674=) | |
2 | g.47800188A>C | CA426121739 | FBXO11,MSH6 | c.1908A>C (p.Leu636=) c.2205A>C (p.Leu735=) n.2289A>C c.1606+599A>C (n.1606+599A>C) c.2211A>C (p.Leu737=) c.628-3232A>C (n.628-3232A>C) c.1362A>C (p.Leu454=) c.1815A>C (p.Leu605=) c.169+8007T>G (n.169+8007T>G) c.*124+7806T>G (n.*124+7806T>G) c.*1552A>C (n.*1552A>C) c.1299A>C (p.Leu433=) c.2202A>C (p.Leu734=) c.-892A>C (n.-892A>C) c.2022A>C (p.Leu674=) | |
2 | g.47800188A>G | CA426121742 | FBXO11,MSH6 | c.1908A>G (p.Leu636=) c.2205A>G (p.Leu735=) n.2289A>G c.1606+599A>G (n.1606+599A>G) c.2211A>G (p.Leu737=) c.628-3232A>G (n.628-3232A>G) c.1362A>G (p.Leu454=) c.1815A>G (p.Leu605=) c.169+8007T>C (n.169+8007T>C) c.*124+7806T>C (n.*124+7806T>C) c.*1552A>G (n.*1552A>G) c.1299A>G (p.Leu433=) c.2202A>G (p.Leu734=) c.-892A>G (n.-892A>G) c.2022A>G (p.Leu674=) | |
2 | g.47800188A>T | CA426121741 | FBXO11,MSH6 | c.1908A>T (p.Leu636=) c.2205A>T (p.Leu735=) n.2289A>T c.1606+599A>T (n.1606+599A>T) c.2211A>T (p.Leu737=) c.628-3232A>T (n.628-3232A>T) c.1362A>T (p.Leu454=) c.1815A>T (p.Leu605=) c.169+8007T>A (n.169+8007T>A) c.*124+7806T>A (n.*124+7806T>A) c.*1552A>T (n.*1552A>T) c.1299A>T (p.Leu433=) c.2202A>T (p.Leu734=) c.-892A>T (n.-892A>T) c.2022A>T (p.Leu674=) | dbSNP |
2 | g.47800188_47800192del | CA2749799228 | FBXO11,MSH6 | c.1908_1912del (p.Asp637SerfsTer18) c.2205_2209del (p.Asp736SerfsTer18) n.2289_2293del c.1606+599_1606+603del (n.1606+599_1606+603del) c.2211_2215del (p.Asp738SerfsTer18) c.628-3232_628-3228del (n.628-3232_628-3228del) c.1362_1366del (p.Asp455SerfsTer18) c.1815_1819del (p.Asp606SerfsTer18) c.169+8003_169+8007del (n.169+8003_169+8007del) c.*124+7802_*124+7806del (n.*124+7802_*124+7806del) c.*1552_*1556del (n.*1552_*1556del) c.1299_1303del (p.Asp434SerfsTer18) c.2202_2206del (p.Asp735SerfsTer18) c.-892_-888del (n.-892_-888del) c.2022_2026del (p.Asp675SerfsTer18) | |
2 | g.47800188_47800211delinsCTACAACTTC | CA2830782350 | FBXO11,MSH6 | c.1908_1931delinsCTACAACTTC (p.Asp637TyrfsTer15) c.2205_2228delinsCTACAACTTC (p.Asp736TyrfsTer15) n.2289_2312delinsCTACAACTTC c.1606+599_1606+622delinsCTACAACTTC (n.1606+599_1606+622delinsCTACAACTTC) c.2211_2234delinsCTACAACTTC (p.Asp738TyrfsTer15) c.628-3232_628-3209delinsCTACAACTTC (n.628-3232_628-3209delinsCTACAACTTC) c.1362_1385delinsCTACAACTTC (p.Asp455TyrfsTer15) c.1815_1838delinsCTACAACTTC (p.Asp606TyrfsTer15) c.169+7984_169+8007delinsGAAGTTGTAG (n.169+7984_169+8007delinsGAAGTTGTAG) c.*124+7783_*124+7806delinsGAAGTTGTAG (n.*124+7783_*124+7806delinsGAAGTTGTAG) c.*1552_*1575delinsCTACAACTTC (n.*1552_*1575delinsCTACAACTTC) c.1299_1322delinsCTACAACTTC (p.Asp434TyrfsTer15) c.2202_2225delinsCTACAACTTC (p.Asp735TyrfsTer15) c.-892_-869delinsCTACAACTTC (n.-892_-869delinsCTACAACTTC) c.2022_2045delinsCTACAACTTC (p.Asp675TyrfsTer15) | |
2 | g.47800189del | CA2573332621 | FBXO11,MSH6 | c.1909del (p.Asp637MetfsTer3) c.2206del (p.Asp736MetfsTer3) n.2290del c.1606+600del (n.1606+600del) c.2212del (p.Asp738MetfsTer3) c.628-3231del (n.628-3231del) c.1363del (p.Asp455MetfsTer3) c.1816del (p.Asp606MetfsTer3) c.169+8006del (n.169+8006del) c.*124+7805del (n.*124+7805del) c.*1553del (n.*1553del) c.1300del (p.Asp434MetfsTer3) c.2203del (p.Asp735MetfsTer3) c.-891del (n.-891del) c.2023del (p.Asp675MetfsTer3) | |
2 | g.47800189G>A | CA346751393 | FBXO11,MSH6 | c.1909G>A (p.Asp637Asn) c.2206G>A (p.Asp736Asn) n.2290G>A c.1606+600G>A (n.1606+600G>A) c.2212G>A (p.Asp738Asn) c.628-3231G>A (n.628-3231G>A) c.1363G>A (p.Asp455Asn) c.1816G>A (p.Asp606Asn) c.169+8006C>T (n.169+8006C>T) c.*124+7805C>T (n.*124+7805C>T) c.*1553G>A (n.*1553G>A) c.1300G>A (p.Asp434Asn) c.2203G>A (p.Asp735Asn) c.-891G>A (n.-891G>A) c.2023G>A (p.Asp675Asn) | dbSNP |
2 | g.47800189G>C | CA346751396 | FBXO11,MSH6 | c.1909G>C (p.Asp637His) c.2206G>C (p.Asp736His) n.2290G>C c.1606+600G>C (n.1606+600G>C) c.2212G>C (p.Asp738His) c.628-3231G>C (n.628-3231G>C) c.1363G>C (p.Asp455His) c.1816G>C (p.Asp606His) c.169+8006C>G (n.169+8006C>G) c.*124+7805C>G (n.*124+7805C>G) c.*1553G>C (n.*1553G>C) c.1300G>C (p.Asp434His) c.2203G>C (p.Asp735His) c.-891G>C (n.-891G>C) c.2023G>C (p.Asp675His) | dbSNP |
2 | g.47800189G>T | CA346751400 | FBXO11,MSH6 | c.1909G>T (p.Asp637Tyr) c.2206G>T (p.Asp736Tyr) n.2290G>T c.1606+600G>T (n.1606+600G>T) c.2212G>T (p.Asp738Tyr) c.628-3231G>T (n.628-3231G>T) c.1363G>T (p.Asp455Tyr) c.1816G>T (p.Asp606Tyr) c.169+8006C>A (n.169+8006C>A) c.*124+7805C>A (n.*124+7805C>A) c.*1553G>T (n.*1553G>T) c.1300G>T (p.Asp434Tyr) c.2203G>T (p.Asp735Tyr) c.-891G>T (n.-891G>T) c.2023G>T (p.Asp675Tyr) | dbSNP |
2 | g.47800190A= | CA2496049396 | FBXO11,MSH6 | c.1910A= (p.Asp637=) c.2207A= (p.Asp736=) n.2291A= c.1606+601A= (n.1606+601A=) c.2213A= (p.Asp738=) c.628-3230A= (n.628-3230A=) c.1364A= (p.Asp455=) c.1817A= (p.Asp606=) c.169+8005T= (n.169+8005T=) c.*124+7804T= (n.*124+7804T=) c.*1554A= (n.*1554A=) c.1301A= (p.Asp434=) c.2204A= (p.Asp735=) c.-890A= (n.-890A=) c.2024A= (p.Asp675=) | |
2 | g.47800190A>C | CA346751402 | FBXO11,MSH6 | c.1910A>C (p.Asp637Ala) c.2207A>C (p.Asp736Ala) n.2291A>C c.1606+601A>C (n.1606+601A>C) c.2213A>C (p.Asp738Ala) c.628-3230A>C (n.628-3230A>C) c.1364A>C (p.Asp455Ala) c.1817A>C (p.Asp606Ala) c.169+8005T>G (n.169+8005T>G) c.*124+7804T>G (n.*124+7804T>G) c.*1554A>C (n.*1554A>C) c.1301A>C (p.Asp434Ala) c.2204A>C (p.Asp735Ala) c.-890A>C (n.-890A>C) c.2024A>C (p.Asp675Ala) | |
2 | g.47800190A>G | CA346751403 | FBXO11,MSH6 | c.1910A>G (p.Asp637Gly) c.2207A>G (p.Asp736Gly) n.2291A>G c.1606+601A>G (n.1606+601A>G) c.2213A>G (p.Asp738Gly) c.628-3230A>G (n.628-3230A>G) c.1364A>G (p.Asp455Gly) c.1817A>G (p.Asp606Gly) c.169+8005T>C (n.169+8005T>C) c.*124+7804T>C (n.*124+7804T>C) c.*1554A>G (n.*1554A>G) c.1301A>G (p.Asp434Gly) c.2204A>G (p.Asp735Gly) c.-890A>G (n.-890A>G) c.2024A>G (p.Asp675Gly) | dbSNP |
2 | g.47800190A>T | CA346751404 | FBXO11,MSH6 | c.1910A>T (p.Asp637Val) c.2207A>T (p.Asp736Val) n.2291A>T c.1606+601A>T (n.1606+601A>T) c.2213A>T (p.Asp738Val) c.628-3230A>T (n.628-3230A>T) c.1364A>T (p.Asp455Val) c.1817A>T (p.Asp606Val) c.169+8005T>A (n.169+8005T>A) c.*124+7804T>A (n.*124+7804T>A) c.*1554A>T (n.*1554A>T) c.1301A>T (p.Asp434Val) c.2204A>T (p.Asp735Val) c.-890A>T (n.-890A>T) c.2024A>T (p.Asp675Val) | ClinVar dbSNP |
2 | g.47800191T>A | CA346751407 | FBXO11,MSH6 | c.1911T>A (p.Asp637Glu) c.2208T>A (p.Asp736Glu) n.2292T>A c.1606+602T>A (n.1606+602T>A) c.2214T>A (p.Asp738Glu) c.628-3229T>A (n.628-3229T>A) c.1365T>A (p.Asp455Glu) c.1818T>A (p.Asp606Glu) c.169+8004A>T (n.169+8004A>T) c.*124+7803A>T (n.*124+7803A>T) c.*1555T>A (n.*1555T>A) c.1302T>A (p.Asp434Glu) c.2205T>A (p.Asp735Glu) c.-889T>A (n.-889T>A) c.2025T>A (p.Asp675Glu) | dbSNP |
2 | g.47800191T>C | CA426121746 | FBXO11,MSH6 | c.1911T>C (p.Asp637=) c.2208T>C (p.Asp736=) n.2292T>C c.1606+602T>C (n.1606+602T>C) c.2214T>C (p.Asp738=) c.628-3229T>C (n.628-3229T>C) c.1365T>C (p.Asp455=) c.1818T>C (p.Asp606=) c.169+8004A>G (n.169+8004A>G) c.*124+7803A>G (n.*124+7803A>G) c.*1555T>C (n.*1555T>C) c.1302T>C (p.Asp434=) c.2205T>C (p.Asp735=) c.-889T>C (n.-889T>C) c.2025T>C (p.Asp675=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47800191T>G | CA346751405 | FBXO11,MSH6 | c.1911T>G (p.Asp637Glu) c.2208T>G (p.Asp736Glu) n.2292T>G c.1606+602T>G (n.1606+602T>G) c.2214T>G (p.Asp738Glu) c.628-3229T>G (n.628-3229T>G) c.1365T>G (p.Asp455Glu) c.1818T>G (p.Asp606Glu) c.169+8004A>C (n.169+8004A>C) c.*124+7803A>C (n.*124+7803A>C) c.*1555T>G (n.*1555T>G) c.1302T>G (p.Asp434Glu) c.2205T>G (p.Asp735Glu) c.-889T>G (n.-889T>G) c.2025T>G (p.Asp675Glu) | dbSNP |
2 | g.47800191T= | CA2496049399 | FBXO11,MSH6 | c.1911T= (p.Asp637=) c.2208T= (p.Asp736=) n.2292T= c.1606+602T= (n.1606+602T=) c.2214T= (p.Asp738=) c.628-3229T= (n.628-3229T=) c.1365T= (p.Asp455=) c.1818T= (p.Asp606=) c.169+8004A= (n.169+8004A=) c.*124+7803A= (n.*124+7803A=) c.*1555T= (n.*1555T=) c.1302T= (p.Asp434=) c.2205T= (p.Asp735=) c.-889T= (n.-889T=) c.2025T= (p.Asp675=) |