Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91277991G>A | CA7308774 | CCDC88C | c.4989C>T (p.Ala1663=) c.561C>T (p.Ala187=) n.801C>T c.1217C>T c.4881C>T (p.Ala1627=) n.5264C>T c.2070C>T (p.Ala690=) n.5262C>T | dbSNP ExAC gnomAD v2 |
14 | g.91277991G>C | CA487540262 | CCDC88C | c.4989C>G (p.Ala1663=) c.561C>G (p.Ala187=) n.801C>G c.1217C>G c.4881C>G (p.Ala1627=) n.5264C>G c.2070C>G (p.Ala690=) n.5262C>G | |
14 | g.91277991G= | CA2154908835 | CCDC88C | c.4989C= (p.Ala1663=) c.561C= (p.Ala187=) n.801C= c.1217C= c.4881C= (p.Ala1627=) n.5264C= c.2070C= (p.Ala690=) n.5262C= | |
14 | g.91277991G>T | CA487540263 | CCDC88C | c.4989C>A (p.Ala1663=) c.561C>A (p.Ala187=) n.801C>A c.1217C>A c.4881C>A (p.Ala1627=) n.5264C>A c.2070C>A (p.Ala690=) n.5262C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91277992G>A | CA390612018 | CCDC88C | c.4988C>T (p.Ala1663Val) c.560C>T (p.Ala187Val) n.800C>T c.1216C>T c.4880C>T (p.Ala1627Val) n.5263C>T c.2069C>T (p.Ala690Val) n.5261C>T | gnomAD v4 |
14 | g.91277992G>C | CA390612016 | CCDC88C | c.4988C>G (p.Ala1663Gly) c.560C>G (p.Ala187Gly) n.800C>G c.1216C>G c.4880C>G (p.Ala1627Gly) n.5263C>G c.2069C>G (p.Ala690Gly) n.5261C>G | |
14 | g.91277992G>T | CA390612017 | CCDC88C | c.4988C>A (p.Ala1663Asp) c.560C>A (p.Ala187Asp) n.800C>A c.1216C>A c.4880C>A (p.Ala1627Asp) n.5263C>A c.2069C>A (p.Ala690Asp) n.5261C>A | gnomAD v4 |
14 | g.91277993C>A | CA7308775 | CCDC88C | c.4987G>T (p.Ala1663Ser) c.559G>T (p.Ala187Ser) n.799G>T c.1215G>T c.4879G>T (p.Ala1627Ser) n.5262G>T c.2068G>T (p.Ala690Ser) n.5260G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91277993C= | CA2154908836 | CCDC88C | c.4987G= (p.Ala1663=) c.559G= (p.Ala187=) n.799G= c.1215G= c.4879G= (p.Ala1627=) n.5262G= c.2068G= (p.Ala690=) n.5260G= | |
14 | g.91277993C>G | CA390612019 | CCDC88C | c.4987G>C (p.Ala1663Pro) c.559G>C (p.Ala187Pro) n.799G>C c.1215G>C c.4879G>C (p.Ala1627Pro) n.5262G>C c.2068G>C (p.Ala690Pro) n.5260G>C | gnomAD v4 |
14 | g.91277993C>T | CA390612020 | CCDC88C | c.4987G>A (p.Ala1663Thr) c.559G>A (p.Ala187Thr) n.799G>A c.1215G>A c.4879G>A (p.Ala1627Thr) n.5262G>A c.2068G>A (p.Ala690Thr) n.5260G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91277994C>A | CA487540264 | CCDC88C | c.4986G>T (p.Ser1662=) c.558G>T (p.Ser186=) n.798G>T c.1214G>T c.4878G>T (p.Ser1626=) n.5261G>T c.2067G>T (p.Ser689=) n.5259G>T | gnomAD v4 |
14 | g.91277994C= | CA2154908837 | CCDC88C | c.4986G= (p.Ser1662=) c.558G= (p.Ser186=) n.798G= c.1214G= c.4878G= (p.Ser1626=) n.5261G= c.2067G= (p.Ser689=) n.5259G= | |
14 | g.91277994C>G | CA7308777 | CCDC88C | c.4986G>C (p.Ser1662=) c.558G>C (p.Ser186=) n.798G>C c.1214G>C c.4878G>C (p.Ser1626=) n.5261G>C c.2067G>C (p.Ser689=) n.5259G>C | dbSNP ExAC gnomAD v4 |
14 | g.91277994C>T | CA7308776 | CCDC88C | c.4986G>A (p.Ser1662=) c.558G>A (p.Ser186=) n.798G>A c.1214G>A c.4878G>A (p.Ser1626=) n.5261G>A c.2067G>A (p.Ser689=) n.5259G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91277995G>A | CA7308778 | CCDC88C | c.4985C>T (p.Ser1662Leu) c.557C>T (p.Ser186Leu) n.797C>T c.1213C>T c.4877C>T (p.Ser1626Leu) n.5260C>T c.2066C>T (p.Ser689Leu) n.5258C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91277995G>C | CA390612022 | CCDC88C | c.4985C>G (p.Ser1662Trp) c.557C>G (p.Ser186Trp) n.797C>G c.1213C>G c.4877C>G (p.Ser1626Trp) n.5260C>G c.2066C>G (p.Ser689Trp) n.5258C>G | dbSNP gnomAD v4 |
14 | g.91277995G= | CA2154908838 | CCDC88C | c.4985C= (p.Ser1662=) c.557C= (p.Ser186=) n.797C= c.1213C= c.4877C= (p.Ser1626=) n.5260C= c.2066C= (p.Ser689=) n.5258C= | |
14 | g.91277995G>T | CA390612021 | CCDC88C | c.4985C>A (p.Ser1662Ter) c.557C>A (p.Ser186Ter) n.797C>A c.1213C>A c.4877C>A (p.Ser1626Ter) n.5260C>A c.2066C>A (p.Ser689Ter) n.5258C>A | gnomAD v4 |
14 | g.91277996A>C | CA390612023 | CCDC88C | c.4984T>G (p.Ser1662Ala) c.556T>G (p.Ser186Ala) n.796T>G c.1212T>G c.4876T>G (p.Ser1626Ala) n.5259T>G c.2065T>G (p.Ser689Ala) n.5257T>G | |
14 | g.91277996A>G | CA390612024 | CCDC88C | c.4984T>C (p.Ser1662Pro) c.556T>C (p.Ser186Pro) n.796T>C c.1212T>C c.4876T>C (p.Ser1626Pro) n.5259T>C c.2065T>C (p.Ser689Pro) n.5257T>C | |
14 | g.91277996A>T | CA390612025 | CCDC88C | c.4984T>A (p.Ser1662Thr) c.556T>A (p.Ser186Thr) n.796T>A c.1212T>A c.4876T>A (p.Ser1626Thr) n.5259T>A c.2065T>A (p.Ser689Thr) n.5257T>A | |
14 | g.91277997G>A | CA487540265 | CCDC88C | c.4983C>T (p.Cys1661=) c.555C>T (p.Cys185=) n.795C>T c.1211C>T c.4875C>T (p.Cys1625=) n.5258C>T c.2064C>T (p.Cys688=) n.5256C>T | |
14 | g.91277997G>C | CA390612026 | CCDC88C | c.4983C>G (p.Cys1661Trp) c.555C>G (p.Cys185Trp) n.795C>G c.1211C>G c.4875C>G (p.Cys1625Trp) n.5258C>G c.2064C>G (p.Cys688Trp) n.5256C>G | gnomAD v4 |
14 | g.91277997G>T | CA390612027 | CCDC88C | c.4983C>A (p.Cys1661Ter) c.555C>A (p.Cys185Ter) n.795C>A c.1211C>A c.4875C>A (p.Cys1625Ter) n.5258C>A c.2064C>A (p.Cys688Ter) n.5256C>A | gnomAD v4 |
14 | g.91277998C>A | CA390612028 | CCDC88C | c.4982G>T (p.Cys1661Phe) c.554G>T (p.Cys185Phe) n.794G>T c.1210G>T c.4874G>T (p.Cys1625Phe) n.5257G>T c.2063G>T (p.Cys688Phe) n.5255G>T | gnomAD v4 |
14 | g.91277998C>G | CA390612029 | CCDC88C | c.4982G>C (p.Cys1661Ser) c.554G>C (p.Cys185Ser) n.794G>C c.1210G>C c.4874G>C (p.Cys1625Ser) n.5257G>C c.2063G>C (p.Cys688Ser) n.5255G>C | |
14 | g.91277998C>T | CA390612030 | CCDC88C | c.4982G>A (p.Cys1661Tyr) c.554G>A (p.Cys185Tyr) n.794G>A c.1210G>A c.4874G>A (p.Cys1625Tyr) n.5257G>A c.2063G>A (p.Cys688Tyr) n.5255G>A | gnomAD v4 |
14 | g.91277999A>C | CA390612031 | CCDC88C | c.4981T>G (p.Cys1661Gly) c.553T>G (p.Cys185Gly) n.793T>G c.1209T>G c.4873T>G (p.Cys1625Gly) n.5256T>G c.2062T>G (p.Cys688Gly) n.5254T>G | |
14 | g.91277999A>G | CA390612032 | CCDC88C | c.4981T>C (p.Cys1661Arg) c.553T>C (p.Cys185Arg) n.793T>C c.1209T>C c.4873T>C (p.Cys1625Arg) n.5256T>C c.2062T>C (p.Cys688Arg) n.5254T>C | gnomAD v4 |
14 | g.91277999A>T | CA390612033 | CCDC88C | c.4981T>A (p.Cys1661Ser) c.553T>A (p.Cys185Ser) n.793T>A c.1209T>A c.4873T>A (p.Cys1625Ser) n.5256T>A c.2062T>A (p.Cys688Ser) n.5254T>A | gnomAD v4 |
14 | g.91278000G>A | CA487540266 | CCDC88C | c.4980C>T (p.Pro1660=) c.552C>T (p.Pro184=) n.792C>T c.1208C>T c.4872C>T (p.Pro1624=) n.5255C>T c.2061C>T (p.Pro687=) n.5253C>T | dbSNP gnomAD v4 |
14 | g.91278000G>C | CA487540267 | CCDC88C | c.4980C>G (p.Pro1660=) c.552C>G (p.Pro184=) n.792C>G c.1208C>G c.4872C>G (p.Pro1624=) n.5255C>G c.2061C>G (p.Pro687=) n.5253C>G | |
14 | g.91278000G= | CA2154908839 | CCDC88C | c.4980C= (p.Pro1660=) c.552C= (p.Pro184=) n.792C= c.1208C= c.4872C= (p.Pro1624=) n.5255C= c.2061C= (p.Pro687=) n.5253C= | |
14 | g.91278000G>T | CA487540268 | CCDC88C | c.4980C>A (p.Pro1660=) c.552C>A (p.Pro184=) n.792C>A c.1208C>A c.4872C>A (p.Pro1624=) n.5255C>A c.2061C>A (p.Pro687=) n.5253C>A | gnomAD v4 |
14 | g.91278001G>A | CA390612034 | CCDC88C | c.4979C>T (p.Pro1660Leu) c.551C>T (p.Pro184Leu) n.791C>T c.1207C>T c.4871C>T (p.Pro1624Leu) n.5254C>T c.2060C>T (p.Pro687Leu) n.5252C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278001G>C | CA390612036 | CCDC88C | c.4979C>G (p.Pro1660Arg) c.551C>G (p.Pro184Arg) n.791C>G c.1207C>G c.4871C>G (p.Pro1624Arg) n.5254C>G c.2060C>G (p.Pro687Arg) n.5252C>G | |
14 | g.91278001G= | CA2154908840 | CCDC88C | c.4979C= (p.Pro1660=) c.551C= (p.Pro184=) n.791C= c.1207C= c.4871C= (p.Pro1624=) n.5254C= c.2060C= (p.Pro687=) n.5252C= | |
14 | g.91278001G>T | CA390612035 | CCDC88C | c.4979C>A (p.Pro1660His) c.551C>A (p.Pro184His) n.791C>A c.1207C>A c.4871C>A (p.Pro1624His) n.5254C>A c.2060C>A (p.Pro687His) n.5252C>A | |
14 | g.91278002G>A | CA390612037 | CCDC88C | c.4978C>T (p.Pro1660Ser) c.550C>T (p.Pro184Ser) n.790C>T c.1206C>T c.4870C>T (p.Pro1624Ser) n.5253C>T c.2059C>T (p.Pro687Ser) n.5251C>T | gnomAD v4 |
14 | g.91278002G>C | CA390612039 | CCDC88C | c.4978C>G (p.Pro1660Ala) c.550C>G (p.Pro184Ala) n.790C>G c.1206C>G c.4870C>G (p.Pro1624Ala) n.5253C>G c.2059C>G (p.Pro687Ala) n.5251C>G | |
14 | g.91278002G>T | CA390612038 | CCDC88C | c.4978C>A (p.Pro1660Thr) c.550C>A (p.Pro184Thr) n.790C>A c.1206C>A c.4870C>A (p.Pro1624Thr) n.5253C>A c.2059C>A (p.Pro687Thr) n.5251C>A | gnomAD v4 |
14 | g.91278003C>A | CA487540271 | CCDC88C | c.4977G>T (p.Arg1659=) c.549G>T (p.Arg183=) n.789G>T c.1205G>T c.4869G>T (p.Arg1623=) n.5252G>T c.2058G>T (p.Arg686=) n.5250G>T | gnomAD v4 |
14 | g.91278003C>G | CA487540270 | CCDC88C | c.4977G>C (p.Arg1659=) c.549G>C (p.Arg183=) n.789G>C c.1205G>C c.4869G>C (p.Arg1623=) n.5252G>C c.2058G>C (p.Arg686=) n.5250G>C | |
14 | g.91278003C>T | CA487540269 | CCDC88C | c.4977G>A (p.Arg1659=) c.549G>A (p.Arg183=) n.789G>A c.1205G>A c.4869G>A (p.Arg1623=) n.5252G>A c.2058G>A (p.Arg686=) n.5250G>A | gnomAD v4 |
14 | g.91278004C>A | CA390612040 | CCDC88C | c.4976G>T (p.Arg1659Leu) c.548G>T (p.Arg183Leu) n.788G>T c.1204G>T c.4868G>T (p.Arg1623Leu) n.5251G>T c.2057G>T (p.Arg686Leu) n.5249G>T | gnomAD v4 |
14 | g.91278004C= | CA2154908841 | CCDC88C | c.4976G= (p.Arg1659=) c.548G= (p.Arg183=) n.788G= c.1204G= c.4868G= (p.Arg1623=) n.5251G= c.2057G= (p.Arg686=) n.5249G= | |
14 | g.91278004C>G | CA390612041 | CCDC88C | c.4976G>C (p.Arg1659Pro) c.548G>C (p.Arg183Pro) n.788G>C c.1204G>C c.4868G>C (p.Arg1623Pro) n.5251G>C c.2057G>C (p.Arg686Pro) n.5249G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91278004C>T | CA7308779 | CCDC88C | c.4976G>A (p.Arg1659Gln) c.548G>A (p.Arg183Gln) n.788G>A c.1204G>A c.4868G>A (p.Arg1623Gln) n.5251G>A c.2057G>A (p.Arg686Gln) n.5249G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278005G>A | CA7308780 | CCDC88C | c.4975C>T (p.Arg1659Trp) c.547C>T (p.Arg183Trp) n.787C>T c.1203C>T c.4867C>T (p.Arg1623Trp) n.5250C>T c.2056C>T (p.Arg686Trp) n.5248C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |