| 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.47799993dup | CA1139771728 | FBXO11,MSH6 | c.1713dup (p.Leu572ValfsTer8) c.2010dup (p.Leu671ValfsTer8) n.2094dup c.1606+404dup (n.1606+404dup) c.2016dup (p.Leu673ValfsTer8) c.628-3427dup (n.628-3427dup) c.1167dup (p.Leu390ValfsTer8) c.1620dup (p.Leu541ValfsTer8) c.169+8204dup (n.169+8204dup) c.*124+8003dup (n.*124+8003dup) c.*1357dup (n.*1357dup) c.1104dup (p.Leu369ValfsTer8) c.2007dup (p.Leu670ValfsTer8) c.-1087dup (n.-1087dup) c.1827dup (p.Leu610ValfsTer8) | |
| 2 | g.47799993del | CA16610913 | FBXO11,MSH6 | c.1713del (p.Leu572Ter) c.2010del (p.Leu671Ter) n.2094del c.1606+404del (n.1606+404del) c.2016del (p.Leu673Ter) c.628-3427del (n.628-3427del) c.1167del (p.Leu390Ter) c.1620del (p.Leu541Ter) c.169+8204del (n.169+8204del) c.*124+8003del (n.*124+8003del) c.*1357del (n.*1357del) c.1104del (p.Leu369Ter) c.2007del (p.Leu670Ter) c.-1087del (n.-1087del) c.1827del (p.Leu610Ter) | ClinVar dbSNP |
| 2 | g.47799993G>A | CA426121313 | FBXO11,MSH6 | c.1713G>A (p.Gly571=) c.2010G>A (p.Gly670=) n.2094G>A c.1606+404G>A (n.1606+404G>A) c.2016G>A (p.Gly672=) c.628-3427G>A (n.628-3427G>A) c.1167G>A (p.Gly389=) c.1620G>A (p.Gly540=) c.169+8202C>T (n.169+8202C>T) c.*124+8001C>T (n.*124+8001C>T) c.*1357G>A (n.*1357G>A) c.1104G>A (p.Gly368=) c.2007G>A (p.Gly669=) c.-1087G>A (n.-1087G>A) c.1827G>A (p.Gly609=) | ClinVar dbSNP |
| 2 | g.47799993G>C | CA426121311 | FBXO11,MSH6 | c.1713G>C (p.Gly571=) c.2010G>C (p.Gly670=) n.2094G>C c.1606+404G>C (n.1606+404G>C) c.2016G>C (p.Gly672=) c.628-3427G>C (n.628-3427G>C) c.1167G>C (p.Gly389=) c.1620G>C (p.Gly540=) c.169+8202C>G (n.169+8202C>G) c.*124+8001C>G (n.*124+8001C>G) c.*1357G>C (n.*1357G>C) c.1104G>C (p.Gly368=) c.2007G>C (p.Gly669=) c.-1087G>C (n.-1087G>C) c.1827G>C (p.Gly609=) | ClinVar dbSNP |
| 2 | g.47799993G= | CA2496049189 | FBXO11,MSH6 | c.1713G= (p.Gly571=) c.2010G= (p.Gly670=) n.2094G= c.1606+404G= (n.1606+404G=) c.2016G= (p.Gly672=) c.628-3427G= (n.628-3427G=) c.1167G= (p.Gly389=) c.1620G= (p.Gly540=) c.169+8202C= (n.169+8202C=) c.*124+8001C= (n.*124+8001C=) c.*1357G= (n.*1357G=) c.1104G= (p.Gly368=) c.2007G= (p.Gly669=) c.-1087G= (n.-1087G=) c.1827G= (p.Gly609=) | |
| 2 | g.47799993G>T | CA426121308 | FBXO11,MSH6 | c.1713G>T (p.Gly571=) c.2010G>T (p.Gly670=) n.2094G>T c.1606+404G>T (n.1606+404G>T) c.2016G>T (p.Gly672=) c.628-3427G>T (n.628-3427G>T) c.1167G>T (p.Gly389=) c.1620G>T (p.Gly540=) c.169+8202C>A (n.169+8202C>A) c.*124+8001C>A (n.*124+8001C>A) c.*1357G>T (n.*1357G>T) c.1104G>T (p.Gly368=) c.2007G>T (p.Gly669=) c.-1087G>T (n.-1087G>T) c.1827G>T (p.Gly609=) | dbSNP |
| 2 | g.47799994_47799996dup | CA2658949754 | FBXO11,MSH6 | c.1714_1716dup (p.Leu572_Thr573insLeu) c.2011_2013dup (p.Leu671_Thr672insLeu) n.2095_2097dup c.1606+405_1606+407dup (n.1606+405_1606+407dup) c.2017_2019dup (p.Leu673_Thr674insLeu) c.628-3426_628-3424dup (n.628-3426_628-3424dup) c.1168_1170dup (p.Leu390_Thr391insLeu) c.1621_1623dup (p.Leu541_Thr542insLeu) c.169+8200_169+8202dup (n.169+8200_169+8202dup) c.*124+7999_*124+8001dup (n.*124+7999_*124+8001dup) c.*1358_*1360dup (n.*1358_*1360dup) c.1105_1107dup (p.Leu369_Thr370insLeu) c.2008_2010dup (p.Leu670_Thr671insLeu) c.-1086_-1084dup (n.-1086_-1084dup) c.1828_1830dup (p.Leu610_Thr611insLeu) | gnomAD v4 |
| 2 | g.47799994T>A | CA346750682 | FBXO11,MSH6 | c.1714T>A (p.Leu572Met) c.2011T>A (p.Leu671Met) n.2095T>A c.1606+405T>A (n.1606+405T>A) c.2017T>A (p.Leu673Met) c.628-3426T>A (n.628-3426T>A) c.1168T>A (p.Leu390Met) c.1621T>A (p.Leu541Met) c.169+8201A>T (n.169+8201A>T) c.*124+8000A>T (n.*124+8000A>T) c.*1358T>A (n.*1358T>A) c.1105T>A (p.Leu369Met) c.2008T>A (p.Leu670Met) c.-1086T>A (n.-1086T>A) c.1828T>A (p.Leu610Met) | ClinVar dbSNP |
| 2 | g.47799994T>C | CA426121314 | FBXO11,MSH6 | c.1714T>C (p.Leu572=) c.2011T>C (p.Leu671=) n.2095T>C c.1606+405T>C (n.1606+405T>C) c.2017T>C (p.Leu673=) c.628-3426T>C (n.628-3426T>C) c.1168T>C (p.Leu390=) c.1621T>C (p.Leu541=) c.169+8201A>G (n.169+8201A>G) c.*124+8000A>G (n.*124+8000A>G) c.*1358T>C (n.*1358T>C) c.1105T>C (p.Leu369=) c.2008T>C (p.Leu670=) c.-1086T>C (n.-1086T>C) c.1828T>C (p.Leu610=) | ClinVar dbSNP |
| 2 | g.47799994T>G | CA346750683 | FBXO11,MSH6 | c.1714T>G (p.Leu572Val) c.2011T>G (p.Leu671Val) n.2095T>G c.1606+405T>G (n.1606+405T>G) c.2017T>G (p.Leu673Val) c.628-3426T>G (n.628-3426T>G) c.1168T>G (p.Leu390Val) c.1621T>G (p.Leu541Val) c.169+8201A>C (n.169+8201A>C) c.*124+8000A>C (n.*124+8000A>C) c.*1358T>G (n.*1358T>G) c.1105T>G (p.Leu369Val) c.2008T>G (p.Leu670Val) c.-1086T>G (n.-1086T>G) c.1828T>G (p.Leu610Val) | dbSNP |
| 2 | g.47799995T>A | CA346750684 | FBXO11,MSH6 | c.1715T>A (p.Leu572Ter) c.2012T>A (p.Leu671Ter) n.2096T>A c.1606+406T>A (n.1606+406T>A) c.2018T>A (p.Leu673Ter) c.628-3425T>A (n.628-3425T>A) c.1169T>A (p.Leu390Ter) c.1622T>A (p.Leu541Ter) c.169+8200A>T (n.169+8200A>T) c.*124+7999A>T (n.*124+7999A>T) c.*1359T>A (n.*1359T>A) c.1106T>A (p.Leu369Ter) c.2009T>A (p.Leu670Ter) c.-1085T>A (n.-1085T>A) c.1829T>A (p.Leu610Ter) | dbSNP |
| 2 | g.47799995T>C | CA346750685 | FBXO11,MSH6 | c.1715T>C (p.Leu572Ser) c.2012T>C (p.Leu671Ser) n.2096T>C c.1606+406T>C (n.1606+406T>C) c.2018T>C (p.Leu673Ser) c.628-3425T>C (n.628-3425T>C) c.1169T>C (p.Leu390Ser) c.1622T>C (p.Leu541Ser) c.169+8200A>G (n.169+8200A>G) c.*124+7999A>G (n.*124+7999A>G) c.*1359T>C (n.*1359T>C) c.1106T>C (p.Leu369Ser) c.2009T>C (p.Leu670Ser) c.-1085T>C (n.-1085T>C) c.1829T>C (p.Leu610Ser) | |
| 2 | g.47799995T>G | CA346750686 | FBXO11,MSH6 | c.1715T>G (p.Leu572Trp) c.2012T>G (p.Leu671Trp) n.2096T>G c.1606+406T>G (n.1606+406T>G) c.2018T>G (p.Leu673Trp) c.628-3425T>G (n.628-3425T>G) c.1169T>G (p.Leu390Trp) c.1622T>G (p.Leu541Trp) c.169+8200A>C (n.169+8200A>C) c.*124+7999A>C (n.*124+7999A>C) c.*1359T>G (n.*1359T>G) c.1106T>G (p.Leu369Trp) c.2009T>G (p.Leu670Trp) c.-1085T>G (n.-1085T>G) c.1829T>G (p.Leu610Trp) | dbSNP |
| 2 | g.47799996G>A | CA068362 | FBXO11,MSH6 | c.1716G>A (p.Leu572=) c.2013G>A (p.Leu671=) n.2097G>A c.1606+407G>A (n.1606+407G>A) c.2019G>A (p.Leu673=) c.628-3424G>A (n.628-3424G>A) c.1170G>A (p.Leu390=) c.1623G>A (p.Leu541=) c.169+8199C>T (n.169+8199C>T) c.*124+7998C>T (n.*124+7998C>T) c.*1360G>A (n.*1360G>A) c.1107G>A (p.Leu369=) c.2010G>A (p.Leu670=) c.-1084G>A (n.-1084G>A) c.1830G>A (p.Leu610=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47799996G>C | CA346750688 | FBXO11,MSH6 | c.1716G>C (p.Leu572Phe) c.2013G>C (p.Leu671Phe) n.2097G>C c.1606+407G>C (n.1606+407G>C) c.2019G>C (p.Leu673Phe) c.628-3424G>C (n.628-3424G>C) c.1170G>C (p.Leu390Phe) c.1623G>C (p.Leu541Phe) c.169+8199C>G (n.169+8199C>G) c.*124+7998C>G (n.*124+7998C>G) c.*1360G>C (n.*1360G>C) c.1107G>C (p.Leu369Phe) c.2010G>C (p.Leu670Phe) c.-1084G>C (n.-1084G>C) c.1830G>C (p.Leu610Phe) | dbSNP |
| 2 | g.47799996G= | CA2496049190 | FBXO11,MSH6 | c.1716G= (p.Leu572=) c.2013G= (p.Leu671=) n.2097G= c.1606+407G= (n.1606+407G=) c.2019G= (p.Leu673=) c.628-3424G= (n.628-3424G=) c.1170G= (p.Leu390=) c.1623G= (p.Leu541=) c.169+8199C= (n.169+8199C=) c.*124+7998C= (n.*124+7998C=) c.*1360G= (n.*1360G=) c.1107G= (p.Leu369=) c.2010G= (p.Leu670=) c.-1084G= (n.-1084G=) c.1830G= (p.Leu610=) | |
| 2 | g.47799996G>T | CA346750687 | FBXO11,MSH6 | c.1716G>T (p.Leu572Phe) c.2013G>T (p.Leu671Phe) n.2097G>T c.1606+407G>T (n.1606+407G>T) c.2019G>T (p.Leu673Phe) c.628-3424G>T (n.628-3424G>T) c.1170G>T (p.Leu390Phe) c.1623G>T (p.Leu541Phe) c.169+8199C>A (n.169+8199C>A) c.*124+7998C>A (n.*124+7998C>A) c.*1360G>T (n.*1360G>T) c.1107G>T (p.Leu369Phe) c.2010G>T (p.Leu670Phe) c.-1084G>T (n.-1084G>T) c.1830G>T (p.Leu610Phe) | ClinVar dbSNP COSMIC |
| 2 | g.47799997A>C | CA346750689 | FBXO11,MSH6 | c.1717A>C (p.Thr573Pro) c.2014A>C (p.Thr672Pro) n.2098A>C c.1606+408A>C (n.1606+408A>C) c.2020A>C (p.Thr674Pro) c.628-3423A>C (n.628-3423A>C) c.1171A>C (p.Thr391Pro) c.1624A>C (p.Thr542Pro) c.169+8198T>G (n.169+8198T>G) c.*124+7997T>G (n.*124+7997T>G) c.*1361A>C (n.*1361A>C) c.1108A>C (p.Thr370Pro) c.2011A>C (p.Thr671Pro) c.-1083A>C (n.-1083A>C) c.1831A>C (p.Thr611Pro) | dbSNP |
| 2 | g.47799997A>G | CA346750690 | FBXO11,MSH6 | c.1717A>G (p.Thr573Ala) c.2014A>G (p.Thr672Ala) n.2098A>G c.1606+408A>G (n.1606+408A>G) c.2020A>G (p.Thr674Ala) c.628-3423A>G (n.628-3423A>G) c.1171A>G (p.Thr391Ala) c.1624A>G (p.Thr542Ala) c.169+8198T>C (n.169+8198T>C) c.*124+7997T>C (n.*124+7997T>C) c.*1361A>G (n.*1361A>G) c.1108A>G (p.Thr370Ala) c.2011A>G (p.Thr671Ala) c.-1083A>G (n.-1083A>G) c.1831A>G (p.Thr611Ala) | dbSNP |
| 2 | g.47799997A>T | CA346750691 | FBXO11,MSH6 | c.1717A>T (p.Thr573Ser) c.2014A>T (p.Thr672Ser) n.2098A>T c.1606+408A>T (n.1606+408A>T) c.2020A>T (p.Thr674Ser) c.628-3423A>T (n.628-3423A>T) c.1171A>T (p.Thr391Ser) c.1624A>T (p.Thr542Ser) c.169+8198T>A (n.169+8198T>A) c.*124+7997T>A (n.*124+7997T>A) c.*1361A>T (n.*1361A>T) c.1108A>T (p.Thr370Ser) c.2011A>T (p.Thr671Ser) c.-1083A>T (n.-1083A>T) c.1831A>T (p.Thr611Ser) | dbSNP |
| 2 | g.47799998C>A | CA346750692 | FBXO11,MSH6 | c.1718C>A (p.Thr573Lys) c.2015C>A (p.Thr672Lys) n.2099C>A c.1606+409C>A (n.1606+409C>A) c.2021C>A (p.Thr674Lys) c.628-3422C>A (n.628-3422C>A) c.1172C>A (p.Thr391Lys) c.1625C>A (p.Thr542Lys) c.169+8197G>T (n.169+8197G>T) c.*124+7996G>T (n.*124+7996G>T) c.*1362C>A (n.*1362C>A) c.1109C>A (p.Thr370Lys) c.2012C>A (p.Thr671Lys) c.-1082C>A (n.-1082C>A) c.1832C>A (p.Thr611Lys) | dbSNP |
| 2 | g.47799998C= | CA2496049191 | FBXO11,MSH6 | c.1718C= (p.Thr573=) c.2015C= (p.Thr672=) n.2099C= c.1606+409C= (n.1606+409C=) c.2021C= (p.Thr674=) c.628-3422C= (n.628-3422C=) c.1172C= (p.Thr391=) c.1625C= (p.Thr542=) c.169+8197G= (n.169+8197G=) c.*124+7996G= (n.*124+7996G=) c.*1362C= (n.*1362C=) c.1109C= (p.Thr370=) c.2012C= (p.Thr671=) c.-1082C= (n.-1082C=) c.1832C= (p.Thr611=) | |
| 2 | g.47799998C>G | CA346750693 | FBXO11,MSH6 | c.1718C>G (p.Thr573Arg) c.2015C>G (p.Thr672Arg) n.2099C>G c.1606+409C>G (n.1606+409C>G) c.2021C>G (p.Thr674Arg) c.628-3422C>G (n.628-3422C>G) c.1172C>G (p.Thr391Arg) c.1625C>G (p.Thr542Arg) c.169+8197G>C (n.169+8197G>C) c.*124+7996G>C (n.*124+7996G>C) c.*1362C>G (n.*1362C>G) c.1109C>G (p.Thr370Arg) c.2012C>G (p.Thr671Arg) c.-1082C>G (n.-1082C>G) c.1832C>G (p.Thr611Arg) | dbSNP |
| 2 | g.47799998C>T | CA346750694 | FBXO11,MSH6 | c.1718C>T (p.Thr573Ile) c.2015C>T (p.Thr672Ile) n.2099C>T c.1606+409C>T (n.1606+409C>T) c.2021C>T (p.Thr674Ile) c.628-3422C>T (n.628-3422C>T) c.1172C>T (p.Thr391Ile) c.1625C>T (p.Thr542Ile) c.169+8197G>A (n.169+8197G>A) c.*124+7996G>A (n.*124+7996G>A) c.*1362C>T (n.*1362C>T) c.1109C>T (p.Thr370Ile) c.2012C>T (p.Thr671Ile) c.-1082C>T (n.-1082C>T) c.1832C>T (p.Thr611Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799999A= | CA2496049192 | FBXO11,MSH6 | c.1719A= (p.Thr573=) c.2016A= (p.Thr672=) n.2100A= c.1606+410A= (n.1606+410A=) c.2022A= (p.Thr674=) c.628-3421A= (n.628-3421A=) c.1173A= (p.Thr391=) c.1626A= (p.Thr542=) c.169+8196T= (n.169+8196T=) c.*124+7995T= (n.*124+7995T=) c.*1363A= (n.*1363A=) c.1110A= (p.Thr370=) c.2013A= (p.Thr671=) c.-1081A= (n.-1081A=) c.1833A= (p.Thr611=) | |
| 2 | g.47799999A>C | CA426121321 | FBXO11,MSH6 | c.1719A>C (p.Thr573=) c.2016A>C (p.Thr672=) n.2100A>C c.1606+410A>C (n.1606+410A>C) c.2022A>C (p.Thr674=) c.628-3421A>C (n.628-3421A>C) c.1173A>C (p.Thr391=) c.1626A>C (p.Thr542=) c.169+8196T>G (n.169+8196T>G) c.*124+7995T>G (n.*124+7995T>G) c.*1363A>C (n.*1363A>C) c.1110A>C (p.Thr370=) c.2013A>C (p.Thr671=) c.-1081A>C (n.-1081A>C) c.1833A>C (p.Thr611=) | |
| 2 | g.47799999A>G | CA426121324 | FBXO11,MSH6 | c.1719A>G (p.Thr573=) c.2016A>G (p.Thr672=) n.2100A>G c.1606+410A>G (n.1606+410A>G) c.2022A>G (p.Thr674=) c.628-3421A>G (n.628-3421A>G) c.1173A>G (p.Thr391=) c.1626A>G (p.Thr542=) c.169+8196T>C (n.169+8196T>C) c.*124+7995T>C (n.*124+7995T>C) c.*1363A>G (n.*1363A>G) c.1110A>G (p.Thr370=) c.2013A>G (p.Thr671=) c.-1081A>G (n.-1081A>G) c.1833A>G (p.Thr611=) | ClinVar dbSNP |
| 2 | g.47799999A>T | CA426121323 | FBXO11,MSH6 | c.1719A>T (p.Thr573=) c.2016A>T (p.Thr672=) n.2100A>T c.1606+410A>T (n.1606+410A>T) c.2022A>T (p.Thr674=) c.628-3421A>T (n.628-3421A>T) c.1173A>T (p.Thr391=) c.1626A>T (p.Thr542=) c.169+8196T>A (n.169+8196T>A) c.*124+7995T>A (n.*124+7995T>A) c.*1363A>T (n.*1363A>T) c.1110A>T (p.Thr370=) c.2013A>T (p.Thr671=) c.-1081A>T (n.-1081A>T) c.1833A>T (p.Thr611=) | |
| 2 | g.47800000C>A | CA346750695 | FBXO11,MSH6 | c.1720C>A (p.Pro574Thr) c.2017C>A (p.Pro673Thr) n.2101C>A c.1606+411C>A (n.1606+411C>A) c.2023C>A (p.Pro675Thr) c.628-3420C>A (n.628-3420C>A) c.1174C>A (p.Pro392Thr) c.1627C>A (p.Pro543Thr) c.169+8195G>T (n.169+8195G>T) c.*124+7994G>T (n.*124+7994G>T) c.*1364C>A (n.*1364C>A) c.1111C>A (p.Pro371Thr) c.2014C>A (p.Pro672Thr) c.-1080C>A (n.-1080C>A) c.1834C>A (p.Pro612Thr) | ClinVar dbSNP |
| 2 | g.47800000C= | CA2496049193 | FBXO11,MSH6 | c.1720C= (p.Pro574=) c.2017C= (p.Pro673=) n.2101C= c.1606+411C= (n.1606+411C=) c.2023C= (p.Pro675=) c.628-3420C= (n.628-3420C=) c.1174C= (p.Pro392=) c.1627C= (p.Pro543=) c.169+8195G= (n.169+8195G=) c.*124+7994G= (n.*124+7994G=) c.*1364C= (n.*1364C=) c.1111C= (p.Pro371=) c.2014C= (p.Pro672=) c.-1080C= (n.-1080C=) c.1834C= (p.Pro612=) | |
| 2 | g.47800000C>G | CA068368 | FBXO11,MSH6 | c.1720C>G (p.Pro574Ala) c.2017C>G (p.Pro673Ala) n.2101C>G c.1606+411C>G (n.1606+411C>G) c.2023C>G (p.Pro675Ala) c.628-3420C>G (n.628-3420C>G) c.1174C>G (p.Pro392Ala) c.1627C>G (p.Pro543Ala) c.169+8195G>C (n.169+8195G>C) c.*124+7994G>C (n.*124+7994G>C) c.*1364C>G (n.*1364C>G) c.1111C>G (p.Pro371Ala) c.2014C>G (p.Pro672Ala) c.-1080C>G (n.-1080C>G) c.1834C>G (p.Pro612Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800000C>T | CA346750696 | FBXO11,MSH6 | c.1720C>T (p.Pro574Ser) c.2017C>T (p.Pro673Ser) n.2101C>T c.1606+411C>T (n.1606+411C>T) c.2023C>T (p.Pro675Ser) c.628-3420C>T (n.628-3420C>T) c.1174C>T (p.Pro392Ser) c.1627C>T (p.Pro543Ser) c.169+8195G>A (n.169+8195G>A) c.*124+7994G>A (n.*124+7994G>A) c.*1364C>T (n.*1364C>T) c.1111C>T (p.Pro371Ser) c.2014C>T (p.Pro672Ser) c.-1080C>T (n.-1080C>T) c.1834C>T (p.Pro612Ser) | ClinVar dbSNP |
| 2 | g.47800001C>A | CA346750697 | FBXO11,MSH6 | c.1721C>A (p.Pro574Gln) c.2018C>A (p.Pro673Gln) n.2102C>A c.1606+412C>A (n.1606+412C>A) c.2024C>A (p.Pro675Gln) c.628-3419C>A (n.628-3419C>A) c.1175C>A (p.Pro392Gln) c.1628C>A (p.Pro543Gln) c.169+8194G>T (n.169+8194G>T) c.*124+7993G>T (n.*124+7993G>T) c.*1365C>A (n.*1365C>A) c.1112C>A (p.Pro371Gln) c.2015C>A (p.Pro672Gln) c.-1079C>A (n.-1079C>A) c.1835C>A (p.Pro612Gln) | |
| 2 | g.47800001C= | CA2496049194 | FBXO11,MSH6 | c.1721C= (p.Pro574=) c.2018C= (p.Pro673=) n.2102C= c.1606+412C= (n.1606+412C=) c.2024C= (p.Pro675=) c.628-3419C= (n.628-3419C=) c.1175C= (p.Pro392=) c.1628C= (p.Pro543=) c.169+8194G= (n.169+8194G=) c.*124+7993G= (n.*124+7993G=) c.*1365C= (n.*1365C=) c.1112C= (p.Pro371=) c.2015C= (p.Pro672=) c.-1079C= (n.-1079C=) c.1835C= (p.Pro612=) | |
| 2 | g.47800001C>G | CA346750698 | FBXO11,MSH6 | c.1721C>G (p.Pro574Arg) c.2018C>G (p.Pro673Arg) n.2102C>G c.1606+412C>G (n.1606+412C>G) c.2024C>G (p.Pro675Arg) c.628-3419C>G (n.628-3419C>G) c.1175C>G (p.Pro392Arg) c.1628C>G (p.Pro543Arg) c.169+8194G>C (n.169+8194G>C) c.*124+7993G>C (n.*124+7993G>C) c.*1365C>G (n.*1365C>G) c.1112C>G (p.Pro371Arg) c.2015C>G (p.Pro672Arg) c.-1079C>G (n.-1079C>G) c.1835C>G (p.Pro612Arg) | |
| 2 | g.47800001C>T | CA348430 | FBXO11,MSH6 | c.1721C>T (p.Pro574Leu) c.2018C>T (p.Pro673Leu) n.2102C>T c.1606+412C>T (n.1606+412C>T) c.2024C>T (p.Pro675Leu) c.628-3419C>T (n.628-3419C>T) c.1175C>T (p.Pro392Leu) c.1628C>T (p.Pro543Leu) c.169+8194G>A (n.169+8194G>A) c.*124+7993G>A (n.*124+7993G>A) c.*1365C>T (n.*1365C>T) c.1112C>T (p.Pro371Leu) c.2015C>T (p.Pro672Leu) c.-1079C>T (n.-1079C>T) c.1835C>T (p.Pro612Leu) | ClinVar dbSNP |
| 2 | g.47800002del | CA2658949755 | FBXO11,MSH6 | c.1722del (p.Gly575GlufsTer11) c.2019del (p.Gly674GlufsTer11) n.2103del c.1606+413del (n.1606+413del) c.2025del (p.Gly676GlufsTer11) c.628-3418del (n.628-3418del) c.1176del (p.Gly393GlufsTer11) c.1629del (p.Gly544GlufsTer11) c.169+8193del (n.169+8193del) c.*124+7992del (n.*124+7992del) c.*1366del (n.*1366del) c.1113del (p.Gly372GlufsTer11) c.2016del (p.Gly673GlufsTer11) c.-1078del (n.-1078del) c.1836del (p.Gly613GlufsTer11) | gnomAD v4 |
| 2 | g.47800002A= | CA2496049195 | FBXO11,MSH6 | c.1722A= (p.Pro574=) c.2019A= (p.Pro673=) n.2103A= c.1606+413A= (n.1606+413A=) c.2025A= (p.Pro675=) c.628-3418A= (n.628-3418A=) c.1176A= (p.Pro392=) c.1629A= (p.Pro543=) c.169+8193T= (n.169+8193T=) c.*124+7992T= (n.*124+7992T=) c.*1366A= (n.*1366A=) c.1113A= (p.Pro371=) c.2016A= (p.Pro672=) c.-1078A= (n.-1078A=) c.1836A= (p.Pro612=) | |
| 2 | g.47800002A>C | CA426121327 | FBXO11,MSH6 | c.1722A>C (p.Pro574=) c.2019A>C (p.Pro673=) n.2103A>C c.1606+413A>C (n.1606+413A>C) c.2025A>C (p.Pro675=) c.628-3418A>C (n.628-3418A>C) c.1176A>C (p.Pro392=) c.1629A>C (p.Pro543=) c.169+8193T>G (n.169+8193T>G) c.*124+7992T>G (n.*124+7992T>G) c.*1366A>C (n.*1366A>C) c.1113A>C (p.Pro371=) c.2016A>C (p.Pro672=) c.-1078A>C (n.-1078A>C) c.1836A>C (p.Pro612=) | |
| 2 | g.47800002A>G | CA336499 | FBXO11,MSH6 | c.1722A>G (p.Pro574=) c.2019A>G (p.Pro673=) n.2103A>G c.1606+413A>G (n.1606+413A>G) c.2025A>G (p.Pro675=) c.628-3418A>G (n.628-3418A>G) c.1176A>G (p.Pro392=) c.1629A>G (p.Pro543=) c.169+8193T>C (n.169+8193T>C) c.*124+7992T>C (n.*124+7992T>C) c.*1366A>G (n.*1366A>G) c.1113A>G (p.Pro371=) c.2016A>G (p.Pro672=) c.-1078A>G (n.-1078A>G) c.1836A>G (p.Pro612=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47800002A>T | CA426121328 | FBXO11,MSH6 | c.1722A>T (p.Pro574=) c.2019A>T (p.Pro673=) n.2103A>T c.1606+413A>T (n.1606+413A>T) c.2025A>T (p.Pro675=) c.628-3418A>T (n.628-3418A>T) c.1176A>T (p.Pro392=) c.1629A>T (p.Pro543=) c.169+8193T>A (n.169+8193T>A) c.*124+7992T>A (n.*124+7992T>A) c.*1366A>T (n.*1366A>T) c.1113A>T (p.Pro371=) c.2016A>T (p.Pro672=) c.-1078A>T (n.-1078A>T) c.1836A>T (p.Pro612=) | dbSNP |
| 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.47800003G>A | CA346750700 | FBXO11,MSH6 | c.1723G>A (p.Gly575Arg) c.2020G>A (p.Gly674Arg) n.2104G>A c.1606+414G>A (n.1606+414G>A) c.2026G>A (p.Gly676Arg) c.628-3417G>A (n.628-3417G>A) c.1177G>A (p.Gly393Arg) c.1630G>A (p.Gly544Arg) c.169+8192C>T (n.169+8192C>T) c.*124+7991C>T (n.*124+7991C>T) c.*1367G>A (n.*1367G>A) c.1114G>A (p.Gly372Arg) c.2017G>A (p.Gly673Arg) c.-1077G>A (n.-1077G>A) c.1837G>A (p.Gly613Arg) | dbSNP |
| 2 | g.47800003G>C | CA346750701 | FBXO11,MSH6 | c.1723G>C (p.Gly575Arg) c.2020G>C (p.Gly674Arg) n.2104G>C c.1606+414G>C (n.1606+414G>C) c.2026G>C (p.Gly676Arg) c.628-3417G>C (n.628-3417G>C) c.1177G>C (p.Gly393Arg) c.1630G>C (p.Gly544Arg) c.169+8192C>G (n.169+8192C>G) c.*124+7991C>G (n.*124+7991C>G) c.*1367G>C (n.*1367G>C) c.1114G>C (p.Gly372Arg) c.2017G>C (p.Gly673Arg) c.-1077G>C (n.-1077G>C) c.1837G>C (p.Gly613Arg) | |
| 2 | g.47800003G>T | CA346750699 | FBXO11,MSH6 | c.1723G>T (p.Gly575Ter) c.2020G>T (p.Gly674Ter) n.2104G>T c.1606+414G>T (n.1606+414G>T) c.2026G>T (p.Gly676Ter) c.628-3417G>T (n.628-3417G>T) c.1177G>T (p.Gly393Ter) c.1630G>T (p.Gly544Ter) c.169+8192C>A (n.169+8192C>A) c.*124+7991C>A (n.*124+7991C>A) c.*1367G>T (n.*1367G>T) c.1114G>T (p.Gly372Ter) c.2017G>T (p.Gly673Ter) c.-1077G>T (n.-1077G>T) c.1837G>T (p.Gly613Ter) | dbSNP |
| 2 | g.47800003_47800040del | CA2695200659 | FBXO11,MSH6 | c.1723_1760del (p.Gly575LeufsTer11) c.2020_2057del (p.Gly674LeufsTer11) n.2104_2141del c.1606+414_1606+451del (n.1606+414_1606+451del) c.2026_2063del (p.Gly676LeufsTer11) c.628-3417_628-3380del (n.628-3417_628-3380del) c.1177_1214del (p.Gly393LeufsTer11) c.1630_1667del (p.Gly544LeufsTer11) c.169+8155_169+8192del (n.169+8155_169+8192del) c.*124+7954_*124+7991del (n.*124+7954_*124+7991del) c.*1367_*1404del (n.*1367_*1404del) c.1114_1151del (p.Gly372LeufsTer11) c.2017_2054del (p.Gly673LeufsTer11) c.-1077_-1040del (n.-1077_-1040del) c.1837_1874del (p.Gly613LeufsTer11) | ClinVar |