Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47795896_47805709delCA658655622FBXO11,MSH6c.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
2g.47799557_47804482dupCA10575504FBXO11,MSH6c.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
2g.47799740_47800212dupCA2580067691FBXO11,MSH6c.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
2g.47799955_47804552delCA1139655753FBXO11,MSH6c.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
2g.47800002_47800130delinsAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACACCA2496049196FBXO11,MSH6c.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=)
2g.47800003_47800130delinsTTGTCA891842829FBXO11,MSH6c.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
2g.47800045_47800130delCA2695200660FBXO11,MSH6c.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
2g.47800120delCA348005FBXO11,MSH6c.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
2g.47800120G>ACA10578093FBXO11,MSH6c.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
2g.47800120G>CCA346751058FBXO11,MSH6c.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
2g.47800120G=CA2496049292FBXO11,MSH6c.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=)
2g.47800120G>TCA346751060FBXO11,MSH6c.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
2g.47800121A=CA2496049293FBXO11,MSH6c.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=)
2g.47800121A>CCA346751063FBXO11,MSH6c.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
2g.47800121A>GCA009716FBXO11,MSH6c.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
2g.47800121A>TCA346751065FBXO11,MSH6c.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
2g.47800122T>ACA346751066FBXO11,MSH6c.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
2g.47800122T>CCA426121573FBXO11,MSH6c.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
2g.47800122T>GCA346751067FBXO11,MSH6c.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
2g.47800122T=CA2496049294FBXO11,MSH6c.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=)
2g.47800123T>ACA346751068FBXO11,MSH6c.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
2g.47800123T>CCA10578094FBXO11,MSH6c.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
2g.47800123T>GCA346751071FBXO11,MSH6c.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
2g.47800123T=CA2496049295FBXO11,MSH6c.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=)
2g.47800124C>ACA346751073FBXO11,MSH6c.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
2g.47800124C=CA2496049296FBXO11,MSH6c.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=)
2g.47800124C>GCA009720FBXO11,MSH6c.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
2g.47800124C>TCA068492FBXO11,MSH6c.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
2g.47800125T>ACA426121574FBXO11,MSH6c.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
2g.47800125T>CCA009731FBXO11,MSH6c.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
2g.47800125T>GCA426121575FBXO11,MSH6c.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=)
2g.47800125T=CA2496049297FBXO11,MSH6c.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=)
2g.47800126G>ACA346751078FBXO11,MSH6c.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
2g.47800126G>CCA346751080FBXO11,MSH6c.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)
 dbSNP gnomAD v4
2g.47800126G=CA2496049299FBXO11,MSH6c.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=)
2g.47800126G>TCA346751081FBXO11,MSH6c.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
2g.47800126_47800128delinsGACCA2496049298FBXO11,MSH6c.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=)
2g.47800127A=CA2496049300FBXO11,MSH6c.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=)
2g.47800127A>CCA346751083FBXO11,MSH6c.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
2g.47800127A>GCA346751085FBXO11,MSH6c.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
2g.47800127A>TCA346751087FBXO11,MSH6c.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
2g.47800130_47800131delCA009736FBXO11,MSH6c.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
2g.47800128C>ACA346751088FBXO11,MSH6c.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
2g.47800128C=CA2496049301FBXO11,MSH6c.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=)
2g.47800128C>GCA346751090FBXO11,MSH6c.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
2g.47800128C>TCA426121578FBXO11,MSH6c.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
2g.47800129A=CA2496049303FBXO11,MSH6c.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=)
2g.47800129A>CCA346751092FBXO11,MSH6c.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
2g.47800129A>GCA068496FBXO11,MSH6c.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
2g.47800129A>TCA346751095FBXO11,MSH6c.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

Number of alleles fetched