Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
14 | g.91278005G>C | CA390612042 | CCDC88C | c.4975C>G (p.Arg1659Gly) c.547C>G (p.Arg183Gly) n.787C>G c.1203C>G c.4867C>G (p.Arg1623Gly) n.5250C>G c.2056C>G (p.Arg686Gly) n.5248C>G | |
14 | g.91278005G= | CA2154908842 | CCDC88C | c.4975C= (p.Arg1659=) c.547C= (p.Arg183=) n.787C= c.1203C= c.4867C= (p.Arg1623=) n.5250C= c.2056C= (p.Arg686=) n.5248C= | |
14 | g.91278005G>T | CA171536 | CCDC88C | c.4975C>A (p.Arg1659=) c.547C>A (p.Arg183=) n.787C>A c.1203C>A c.4867C>A (p.Arg1623=) n.5250C>A c.2056C>A (p.Arg686=) n.5248C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278006C>A | CA487540272 | CCDC88C | c.4974G>T (p.Val1658=) c.546G>T (p.Val182=) n.786G>T c.1202G>T c.4866G>T (p.Val1622=) n.5249G>T c.2055G>T (p.Val685=) n.5247G>T | gnomAD v4 |
14 | g.91278006C>G | CA487540273 | CCDC88C | c.4974G>C (p.Val1658=) c.546G>C (p.Val182=) n.786G>C c.1202G>C c.4866G>C (p.Val1622=) n.5249G>C c.2055G>C (p.Val685=) n.5247G>C | |
14 | g.91278006C>T | CA487540274 | CCDC88C | c.4974G>A (p.Val1658=) c.546G>A (p.Val182=) n.786G>A c.1202G>A c.4866G>A (p.Val1622=) n.5249G>A c.2055G>A (p.Val685=) n.5247G>A | gnomAD v4 |
14 | g.91278007A= | CA2154908843 | CCDC88C | c.4973T= (p.Val1658=) c.545T= (p.Val182=) n.785T= c.1201T= c.4865T= (p.Val1622=) n.5248T= c.2054T= (p.Val685=) n.5246T= | |
14 | g.91278007A>C | CA390612043 | CCDC88C | c.4973T>G (p.Val1658Gly) c.545T>G (p.Val182Gly) n.785T>G c.1201T>G c.4865T>G (p.Val1622Gly) n.5248T>G c.2054T>G (p.Val685Gly) n.5246T>G | |
14 | g.91278007A>G | CA390612044 | CCDC88C | c.4973T>C (p.Val1658Ala) c.545T>C (p.Val182Ala) n.785T>C c.1201T>C c.4865T>C (p.Val1622Ala) n.5248T>C c.2054T>C (p.Val685Ala) n.5246T>C | dbSNP gnomAD v4 |
14 | g.91278007A>T | CA390612045 | CCDC88C | c.4973T>A (p.Val1658Glu) c.545T>A (p.Val182Glu) n.785T>A c.1201T>A c.4865T>A (p.Val1622Glu) n.5248T>A c.2054T>A (p.Val685Glu) n.5246T>A | |
14 | g.91278008C>A | CA390612046 | CCDC88C | c.4972G>T (p.Val1658Leu) c.544G>T (p.Val182Leu) n.784G>T c.1200G>T c.4864G>T (p.Val1622Leu) n.5247G>T c.2053G>T (p.Val685Leu) n.5245G>T | gnomAD v4 |
14 | g.91278008C>G | CA390612047 | CCDC88C | c.4972G>C (p.Val1658Leu) c.544G>C (p.Val182Leu) n.784G>C c.1200G>C c.4864G>C (p.Val1622Leu) n.5247G>C c.2053G>C (p.Val685Leu) n.5245G>C | |
14 | g.91278008C>T | CA390612048 | CCDC88C | c.4972G>A (p.Val1658Met) c.544G>A (p.Val182Met) n.784G>A c.1200G>A c.4864G>A (p.Val1622Met) n.5247G>A c.2053G>A (p.Val685Met) n.5245G>A | |
14 | g.91278009T>A | CA487540275 | CCDC88C | c.4971A>T (p.Gly1657=) c.543A>T (p.Gly181=) n.783A>T c.1199A>T c.4863A>T (p.Gly1621=) n.5246A>T c.2052A>T (p.Gly684=) n.5244A>T | |
14 | g.91278009T>C | CA487540277 | CCDC88C | c.4971A>G (p.Gly1657=) c.543A>G (p.Gly181=) n.783A>G c.1199A>G c.4863A>G (p.Gly1621=) n.5246A>G c.2052A>G (p.Gly684=) n.5244A>G | |
14 | g.91278009T>G | CA487540276 | CCDC88C | c.4971A>C (p.Gly1657=) c.543A>C (p.Gly181=) n.783A>C c.1199A>C c.4863A>C (p.Gly1621=) n.5246A>C c.2052A>C (p.Gly684=) n.5244A>C | |
14 | g.91278010C>A | CA390612051 | CCDC88C | c.4970G>T (p.Gly1657Val) c.542G>T (p.Gly181Val) n.782G>T c.1198G>T c.4862G>T (p.Gly1621Val) n.5245G>T c.2051G>T (p.Gly684Val) n.5243G>T | |
14 | g.91278010C>G | CA390612049 | CCDC88C | c.4970G>C (p.Gly1657Ala) c.542G>C (p.Gly181Ala) n.782G>C c.1198G>C c.4862G>C (p.Gly1621Ala) n.5245G>C c.2051G>C (p.Gly684Ala) n.5243G>C | |
14 | g.91278010C>T | CA390612050 | CCDC88C | c.4970G>A (p.Gly1657Glu) c.542G>A (p.Gly181Glu) n.782G>A c.1198G>A c.4862G>A (p.Gly1621Glu) n.5245G>A c.2051G>A (p.Gly684Glu) n.5243G>A | dbSNP |
14 | g.91278011C>A | CA390612052 | CCDC88C | c.4969G>T (p.Gly1657Ter) c.541G>T (p.Gly181Ter) n.781G>T c.1197G>T c.4861G>T (p.Gly1621Ter) n.5244G>T c.2050G>T (p.Gly684Ter) n.5242G>T | gnomAD v4 |
14 | g.91278011C= | CA2154908844 | CCDC88C | c.4969G= (p.Gly1657=) c.541G= (p.Gly181=) n.781G= c.1197G= c.4861G= (p.Gly1621=) n.5244G= c.2050G= (p.Gly684=) n.5242G= | |
14 | g.91278011C>G | CA390612053 | CCDC88C | c.4969G>C (p.Gly1657Arg) c.541G>C (p.Gly181Arg) n.781G>C c.1197G>C c.4861G>C (p.Gly1621Arg) n.5244G>C c.2050G>C (p.Gly684Arg) n.5242G>C | |
14 | g.91278011C>T | CA7308781 | CCDC88C | c.4969G>A (p.Gly1657Arg) c.541G>A (p.Gly181Arg) n.781G>A c.1197G>A c.4861G>A (p.Gly1621Arg) n.5244G>A c.2050G>A (p.Gly684Arg) n.5242G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278012G>A | CA7308782 | CCDC88C | c.4968C>T (p.Val1656=) c.540C>T (p.Val180=) n.780C>T c.1196C>T c.4860C>T (p.Val1620=) n.5243C>T c.2049C>T (p.Val683=) n.5241C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278012G>C | CA487540278 | CCDC88C | c.4968C>G (p.Val1656=) c.540C>G (p.Val180=) n.780C>G c.1196C>G c.4860C>G (p.Val1620=) n.5243C>G c.2049C>G (p.Val683=) n.5241C>G | |
14 | g.91278012G= | CA2154908845 | CCDC88C | c.4968C= (p.Val1656=) c.540C= (p.Val180=) n.780C= c.1196C= c.4860C= (p.Val1620=) n.5243C= c.2049C= (p.Val683=) n.5241C= | |
14 | g.91278012G>T | CA487540279 | CCDC88C | c.4968C>A (p.Val1656=) c.540C>A (p.Val180=) n.780C>A c.1196C>A c.4860C>A (p.Val1620=) n.5243C>A c.2049C>A (p.Val683=) n.5241C>A | gnomAD v4 |
14 | g.91278013A= | CA2154908846 | CCDC88C | c.4967T= (p.Val1656=) c.539T= (p.Val180=) n.779T= c.1195T= c.4859T= (p.Val1620=) n.5242T= c.2048T= (p.Val683=) n.5240T= | |
14 | g.91278013A>C | CA390612056 | CCDC88C | c.4967T>G (p.Val1656Gly) c.539T>G (p.Val180Gly) n.779T>G c.1195T>G c.4859T>G (p.Val1620Gly) n.5242T>G c.2048T>G (p.Val683Gly) n.5240T>G | |
14 | g.91278013A>G | CA7308783 | CCDC88C | c.4967T>C (p.Val1656Ala) c.539T>C (p.Val180Ala) n.779T>C c.1195T>C c.4859T>C (p.Val1620Ala) n.5242T>C c.2048T>C (p.Val683Ala) n.5240T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278013A>T | CA390612058 | CCDC88C | c.4967T>A (p.Val1656Asp) c.539T>A (p.Val180Asp) n.779T>A c.1195T>A c.4859T>A (p.Val1620Asp) n.5242T>A c.2048T>A (p.Val683Asp) n.5240T>A | |
14 | g.91278014C>A | CA390612061 | CCDC88C | c.4966G>T (p.Val1656Phe) c.538G>T (p.Val180Phe) n.778G>T c.1194G>T c.4858G>T (p.Val1620Phe) n.5241G>T c.2047G>T (p.Val683Phe) n.5239G>T | gnomAD v4 |
14 | g.91278014C= | CA2154908847 | CCDC88C | c.4966G= (p.Val1656=) c.538G= (p.Val180=) n.778G= c.1194G= c.4858G= (p.Val1620=) n.5241G= c.2047G= (p.Val683=) n.5239G= | |
14 | g.91278014C>G | CA390612062 | CCDC88C | c.4966G>C (p.Val1656Leu) c.538G>C (p.Val180Leu) n.778G>C c.1194G>C c.4858G>C (p.Val1620Leu) n.5241G>C c.2047G>C (p.Val683Leu) n.5239G>C | |
14 | g.91278014C>T | CA7308784 | CCDC88C | c.4966G>A (p.Val1656Ile) c.538G>A (p.Val180Ile) n.778G>A c.1194G>A c.4858G>A (p.Val1620Ile) n.5241G>A c.2047G>A (p.Val683Ile) n.5239G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278015G>A | CA7308785 | CCDC88C | c.4965C>T (p.Tyr1655=) c.537C>T (p.Tyr179=) n.777C>T c.1193C>T c.4857C>T (p.Tyr1619=) n.5240C>T c.2046C>T (p.Tyr682=) n.5238C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278015G>C | CA390612067 | CCDC88C | c.4965C>G (p.Tyr1655Ter) c.537C>G (p.Tyr179Ter) n.777C>G c.1193C>G c.4857C>G (p.Tyr1619Ter) n.5240C>G c.2046C>G (p.Tyr682Ter) n.5238C>G | |
14 | g.91278015G= | CA2154908848 | CCDC88C | c.4965C= (p.Tyr1655=) c.537C= (p.Tyr179=) n.777C= c.1193C= c.4857C= (p.Tyr1619=) n.5240C= c.2046C= (p.Tyr682=) n.5238C= | |
14 | g.91278015G>T | CA390612066 | CCDC88C | c.4965C>A (p.Tyr1655Ter) c.537C>A (p.Tyr179Ter) n.777C>A c.1193C>A c.4857C>A (p.Tyr1619Ter) n.5240C>A c.2046C>A (p.Tyr682Ter) n.5238C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278016T>A | CA390612070 | CCDC88C | c.4964A>T (p.Tyr1655Phe) c.536A>T (p.Tyr179Phe) n.776A>T c.1192A>T c.4856A>T (p.Tyr1619Phe) n.5239A>T c.2045A>T (p.Tyr682Phe) n.5237A>T | |
14 | g.91278016T>C | CA390612072 | CCDC88C | c.4964A>G (p.Tyr1655Cys) c.536A>G (p.Tyr179Cys) n.776A>G c.1192A>G c.4856A>G (p.Tyr1619Cys) n.5239A>G c.2045A>G (p.Tyr682Cys) n.5237A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278016T>G | CA390612074 | CCDC88C | c.4964A>C (p.Tyr1655Ser) c.536A>C (p.Tyr179Ser) n.776A>C c.1192A>C c.4856A>C (p.Tyr1619Ser) n.5239A>C c.2045A>C (p.Tyr682Ser) n.5237A>C | |
14 | g.91278016T= | CA2154908849 | CCDC88C | c.4964A= (p.Tyr1655=) c.536A= (p.Tyr179=) n.776A= c.1192A= c.4856A= (p.Tyr1619=) n.5239A= c.2045A= (p.Tyr682=) n.5237A= | |
14 | g.91278017A= | CA2154908850 | CCDC88C | c.4963T= (p.Tyr1655=) c.535T= (p.Tyr179=) n.775T= c.1191T= c.4855T= (p.Tyr1619=) n.5238T= c.2044T= (p.Tyr682=) n.5236T= | |
14 | g.91278017A>C | CA390612077 | CCDC88C | c.4963T>G (p.Tyr1655Asp) c.535T>G (p.Tyr179Asp) n.775T>G c.1191T>G c.4855T>G (p.Tyr1619Asp) n.5238T>G c.2044T>G (p.Tyr682Asp) n.5236T>G | |
14 | g.91278017A>G | CA7308786 | CCDC88C | c.4963T>C (p.Tyr1655His) c.535T>C (p.Tyr179His) n.775T>C c.1191T>C c.4855T>C (p.Tyr1619His) n.5238T>C c.2044T>C (p.Tyr682His) n.5236T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278017A>T | CA390612079 | CCDC88C | c.4963T>A (p.Tyr1655Asn) c.535T>A (p.Tyr179Asn) n.775T>A c.1191T>A c.4855T>A (p.Tyr1619Asn) n.5238T>A c.2044T>A (p.Tyr682Asn) n.5236T>A | |
14 | g.91278018G>A | CA487540280 | CCDC88C | c.4962C>T (p.Pro1654=) c.534C>T (p.Pro178=) n.774C>T c.1190C>T c.4854C>T (p.Pro1618=) n.5237C>T c.2043C>T (p.Pro681=) n.5235C>T | ClinVar |
14 | g.91278018G>C | CA487540281 | CCDC88C | c.4962C>G (p.Pro1654=) c.534C>G (p.Pro178=) n.774C>G c.1190C>G c.4854C>G (p.Pro1618=) n.5237C>G c.2043C>G (p.Pro681=) n.5235C>G | gnomAD v4 |
14 | g.91278018G>T | CA487540282 | CCDC88C | c.4962C>A (p.Pro1654=) c.534C>A (p.Pro178=) n.774C>A c.1190C>A c.4854C>A (p.Pro1618=) n.5237C>A c.2043C>A (p.Pro681=) n.5235C>A | gnomAD v4 |
14 | g.91278019G>A | CA390612081 | CCDC88C | c.4961C>T (p.Pro1654Leu) c.533C>T (p.Pro178Leu) n.773C>T c.1189C>T c.4853C>T (p.Pro1618Leu) n.5236C>T c.2042C>T (p.Pro681Leu) n.5234C>T | gnomAD v4 |
14 | g.91278019G>C | CA390612083 | CCDC88C | c.4961C>G (p.Pro1654Arg) c.533C>G (p.Pro178Arg) n.773C>G c.1189C>G c.4853C>G (p.Pro1618Arg) n.5236C>G c.2042C>G (p.Pro681Arg) n.5234C>G | |
14 | g.91278019G>T | CA390612085 | CCDC88C | c.4961C>A (p.Pro1654His) c.533C>A (p.Pro178His) n.773C>A c.1189C>A c.4853C>A (p.Pro1618His) n.5236C>A c.2042C>A (p.Pro681His) n.5234C>A | |
14 | g.91278020G>A | CA390612086 | CCDC88C | c.4960C>T (p.Pro1654Ser) c.532C>T (p.Pro178Ser) n.772C>T c.1188C>T c.4852C>T (p.Pro1618Ser) n.5235C>T c.2041C>T (p.Pro681Ser) n.5233C>T | gnomAD v4 |
14 | g.91278020G>C | CA390612088 | CCDC88C | c.4960C>G (p.Pro1654Ala) c.532C>G (p.Pro178Ala) n.772C>G c.1188C>G c.4852C>G (p.Pro1618Ala) n.5235C>G c.2041C>G (p.Pro681Ala) n.5233C>G | |
14 | g.91278020G>T | CA390612090 | CCDC88C | c.4960C>A (p.Pro1654Thr) c.532C>A (p.Pro178Thr) n.772C>A c.1188C>A c.4852C>A (p.Pro1618Thr) n.5235C>A c.2041C>A (p.Pro681Thr) n.5233C>A | |
14 | g.91278021A>C | CA487540283 | CCDC88C | c.4959T>G (p.Pro1653=) c.531T>G (p.Pro177=) n.771T>G c.1187T>G c.4851T>G (p.Pro1617=) n.5234T>G c.2040T>G (p.Pro680=) n.5232T>G | |
14 | g.91278021A>G | CA487540284 | CCDC88C | c.4959T>C (p.Pro1653=) c.531T>C (p.Pro177=) n.771T>C c.1187T>C c.4851T>C (p.Pro1617=) n.5234T>C c.2040T>C (p.Pro680=) n.5232T>C | ClinVar gnomAD v4 |
14 | g.91278021A>T | CA487540285 | CCDC88C | c.4959T>A (p.Pro1653=) c.531T>A (p.Pro177=) n.771T>A c.1187T>A c.4851T>A (p.Pro1617=) n.5234T>A c.2040T>A (p.Pro680=) n.5232T>A | |
14 | g.91278021_91278027delinsAGGGGCT | CA2154908851 | CCDC88C | c.4953_4959delinsAGCCCCT (p.Thr1651=) c.525_531delinsAGCCCCT (p.Thr175=) n.765_771delinsAGCCCCT c.1181_1187delinsAGCCCCT c.4845_4851delinsAGCCCCT (p.Thr1615=) n.5228_5234delinsAGCCCCT c.2034_2040delinsAGCCCCT (p.Thr678=) n.5226_5232delinsAGCCCCT | |
14 | g.91278022G>A | CA390612096 | CCDC88C | c.4958C>T (p.Pro1653Leu) c.530C>T (p.Pro177Leu) n.770C>T c.1186C>T c.4850C>T (p.Pro1617Leu) n.5233C>T c.2039C>T (p.Pro680Leu) n.5231C>T | gnomAD v4 |
14 | g.91278022G>C | CA390612094 | CCDC88C | c.4958C>G (p.Pro1653Arg) c.530C>G (p.Pro177Arg) n.770C>G c.1186C>G c.4850C>G (p.Pro1617Arg) n.5233C>G c.2039C>G (p.Pro680Arg) n.5231C>G | |
14 | g.91278022G>T | CA390612092 | CCDC88C | c.4958C>A (p.Pro1653His) c.530C>A (p.Pro177His) n.770C>A c.1186C>A c.4850C>A (p.Pro1617His) n.5233C>A c.2039C>A (p.Pro680His) n.5231C>A | |
14 | g.91278023_91278028del | CA616112358 | CCDC88C | c.4953_4958del (p.Ala1652_Pro1653del) c.525_530del (p.Ala176_Pro177del) n.765_770del c.1181_1186del c.4845_4850del (p.Ala1616_Pro1617del) n.5228_5233del c.2034_2039del (p.Ala679_Pro680del) n.5226_5231del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278023G>A | CA390612098 | CCDC88C | c.4957C>T (p.Pro1653Ser) c.529C>T (p.Pro177Ser) n.769C>T c.1185C>T c.4849C>T (p.Pro1617Ser) n.5232C>T c.2038C>T (p.Pro680Ser) n.5230C>T | gnomAD v4 |
14 | g.91278023G>C | CA390612100 | CCDC88C | c.4957C>G (p.Pro1653Ala) c.529C>G (p.Pro177Ala) n.769C>G c.1185C>G c.4849C>G (p.Pro1617Ala) n.5232C>G c.2038C>G (p.Pro680Ala) n.5230C>G | dbSNP gnomAD v4 |
14 | g.91278023G= | CA2154908852 | CCDC88C | c.4957C= (p.Pro1653=) c.529C= (p.Pro177=) n.769C= c.1185C= c.4849C= (p.Pro1617=) n.5232C= c.2038C= (p.Pro680=) n.5230C= | |
14 | g.91278023G>T | CA390612102 | CCDC88C | c.4957C>A (p.Pro1653Thr) c.529C>A (p.Pro177Thr) n.769C>A c.1185C>A c.4849C>A (p.Pro1617Thr) n.5232C>A c.2038C>A (p.Pro680Thr) n.5230C>A | gnomAD v4 |
14 | g.91278024G>A | CA487540288 | CCDC88C | c.4956C>T (p.Ala1652=) c.528C>T (p.Ala176=) n.768C>T c.1184C>T c.4848C>T (p.Ala1616=) n.5231C>T c.2037C>T (p.Ala679=) n.5229C>T | |
14 | g.91278024G>C | CA487540286 | CCDC88C | c.4956C>G (p.Ala1652=) c.528C>G (p.Ala176=) n.768C>G c.1184C>G c.4848C>G (p.Ala1616=) n.5231C>G c.2037C>G (p.Ala679=) n.5229C>G | ClinVar |
14 | g.91278024G>T | CA487540287 | CCDC88C | c.4956C>A (p.Ala1652=) c.528C>A (p.Ala176=) n.768C>A c.1184C>A c.4848C>A (p.Ala1616=) n.5231C>A c.2037C>A (p.Ala679=) n.5229C>A | gnomAD v4 |
14 | g.91278025G>A | CA390612105 | CCDC88C | c.4955C>T (p.Ala1652Val) c.527C>T (p.Ala176Val) n.767C>T c.1183C>T c.4847C>T (p.Ala1616Val) n.5230C>T c.2036C>T (p.Ala679Val) n.5228C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278025G>C | CA390612107 | CCDC88C | c.4955C>G (p.Ala1652Gly) c.527C>G (p.Ala176Gly) n.767C>G c.1183C>G c.4847C>G (p.Ala1616Gly) n.5230C>G c.2036C>G (p.Ala679Gly) n.5228C>G | |
14 | g.91278025G= | CA2154908853 | CCDC88C | c.4955C= (p.Ala1652=) c.527C= (p.Ala176=) n.767C= c.1183C= c.4847C= (p.Ala1616=) n.5230C= c.2036C= (p.Ala679=) n.5228C= | |
14 | g.91278025G>T | CA390612108 | CCDC88C | c.4955C>A (p.Ala1652Asp) c.527C>A (p.Ala176Asp) n.767C>A c.1183C>A c.4847C>A (p.Ala1616Asp) n.5230C>A c.2036C>A (p.Ala679Asp) n.5228C>A | |
14 | g.91278026C>A | CA390612111 | CCDC88C | c.4954G>T (p.Ala1652Ser) c.526G>T (p.Ala176Ser) n.766G>T c.1182G>T c.4846G>T (p.Ala1616Ser) n.5229G>T c.2035G>T (p.Ala679Ser) n.5227G>T | gnomAD v4 |
14 | g.91278026C>G | CA390612113 | CCDC88C | c.4954G>C (p.Ala1652Pro) c.526G>C (p.Ala176Pro) n.766G>C c.1182G>C c.4846G>C (p.Ala1616Pro) n.5229G>C c.2035G>C (p.Ala679Pro) n.5227G>C | |
14 | g.91278026C>T | CA390612114 | CCDC88C | c.4954G>A (p.Ala1652Thr) c.526G>A (p.Ala176Thr) n.766G>A c.1182G>A c.4846G>A (p.Ala1616Thr) n.5229G>A c.2035G>A (p.Ala679Thr) n.5227G>A | |
14 | g.91278027T>A | CA487540289 | CCDC88C | c.4953A>T (p.Thr1651=) c.525A>T (p.Thr175=) n.765A>T c.1181A>T c.4845A>T (p.Thr1615=) n.5228A>T c.2034A>T (p.Thr678=) n.5226A>T | |
14 | g.91278027T>C | CA487540290 | CCDC88C | c.4953A>G (p.Thr1651=) c.525A>G (p.Thr175=) n.765A>G c.1181A>G c.4845A>G (p.Thr1615=) n.5228A>G c.2034A>G (p.Thr678=) n.5226A>G | dbSNP gnomAD v4 |
14 | g.91278027T>G | CA487540291 | CCDC88C | c.4953A>C (p.Thr1651=) c.525A>C (p.Thr175=) n.765A>C c.1181A>C c.4845A>C (p.Thr1615=) n.5228A>C c.2034A>C (p.Thr678=) n.5226A>C | |
14 | g.91278028G>A | CA390612117 | CCDC88C | c.4952C>T (p.Thr1651Ile) c.524C>T (p.Thr175Ile) n.764C>T c.1180C>T c.4844C>T (p.Thr1615Ile) n.5227C>T c.2033C>T (p.Thr678Ile) n.5225C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278028G>C | CA390612119 | CCDC88C | c.4952C>G (p.Thr1651Arg) c.524C>G (p.Thr175Arg) n.764C>G c.1180C>G c.4844C>G (p.Thr1615Arg) n.5227C>G c.2033C>G (p.Thr678Arg) n.5225C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278028G= | CA2154908854 | CCDC88C | c.4952C= (p.Thr1651=) c.524C= (p.Thr175=) n.764C= c.1180C= c.4844C= (p.Thr1615=) n.5227C= c.2033C= (p.Thr678=) n.5225C= | |
14 | g.91278028G>T | CA390612120 | CCDC88C | c.4952C>A (p.Thr1651Lys) c.524C>A (p.Thr175Lys) n.764C>A c.1180C>A c.4844C>A (p.Thr1615Lys) n.5227C>A c.2033C>A (p.Thr678Lys) n.5225C>A | |
14 | g.91278029T>A | CA390612126 | CCDC88C | c.4951A>T (p.Thr1651Ser) c.523A>T (p.Thr175Ser) n.763A>T c.1179A>T c.4843A>T (p.Thr1615Ser) n.5226A>T c.2032A>T (p.Thr678Ser) n.5224A>T | |
14 | g.91278029T>C | CA390612124 | CCDC88C | c.4951A>G (p.Thr1651Ala) c.523A>G (p.Thr175Ala) n.763A>G c.1179A>G c.4843A>G (p.Thr1615Ala) n.5226A>G c.2032A>G (p.Thr678Ala) n.5224A>G | |
14 | g.91278029T>G | CA390612123 | CCDC88C | c.4951A>C (p.Thr1651Pro) c.523A>C (p.Thr175Pro) n.763A>C c.1179A>C c.4843A>C (p.Thr1615Pro) n.5226A>C c.2032A>C (p.Thr678Pro) n.5224A>C | |
14 | g.91278030G>A | CA487540292 | CCDC88C | c.4950C>T (p.Gly1650=) c.522C>T (p.Gly174=) n.762C>T c.1178C>T c.4842C>T (p.Gly1614=) n.5225C>T c.2031C>T (p.Gly677=) n.5223C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278030G>C | CA487540293 | CCDC88C | c.4950C>G (p.Gly1650=) c.522C>G (p.Gly174=) n.762C>G c.1178C>G c.4842C>G (p.Gly1614=) n.5225C>G c.2031C>G (p.Gly677=) n.5223C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278030G= | CA2154908855 | CCDC88C | c.4950C= (p.Gly1650=) c.522C= (p.Gly174=) n.762C= c.1178C= c.4842C= (p.Gly1614=) n.5225C= c.2031C= (p.Gly677=) n.5223C= | |
14 | g.91278030G>T | CA487540294 | CCDC88C | c.4950C>A (p.Gly1650=) c.522C>A (p.Gly174=) n.762C>A c.1178C>A c.4842C>A (p.Gly1614=) n.5225C>A c.2031C>A (p.Gly677=) n.5223C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278031C>A | CA7308787 | CCDC88C | c.4949G>T (p.Gly1650Val) c.521G>T (p.Gly174Val) n.761G>T c.1177G>T c.4841G>T (p.Gly1614Val) n.5224G>T c.2030G>T (p.Gly677Val) n.5222G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278031C= | CA2154908856 | CCDC88C | c.4949G= (p.Gly1650=) c.521G= (p.Gly174=) n.761G= c.1177G= c.4841G= (p.Gly1614=) n.5224G= c.2030G= (p.Gly677=) n.5222G= | |
14 | g.91278031C>G | CA390612131 | CCDC88C | c.4949G>C (p.Gly1650Ala) c.521G>C (p.Gly174Ala) n.761G>C c.1177G>C c.4841G>C (p.Gly1614Ala) n.5224G>C c.2030G>C (p.Gly677Ala) n.5222G>C | |
14 | g.91278031C>T | CA390612129 | CCDC88C | c.4949G>A (p.Gly1650Asp) c.521G>A (p.Gly174Asp) n.761G>A c.1177G>A c.4841G>A (p.Gly1614Asp) n.5224G>A c.2030G>A (p.Gly677Asp) n.5222G>A | gnomAD v4 |
14 | g.91278032C>A | CA390612133 | CCDC88C | c.4948G>T (p.Gly1650Cys) c.520G>T (p.Gly174Cys) n.760G>T c.1176G>T c.4840G>T (p.Gly1614Cys) n.5223G>T c.2029G>T (p.Gly677Cys) n.5221G>T | gnomAD v4 |
14 | g.91278032C= | CA2154908857 | CCDC88C | c.4948G= (p.Gly1650=) c.520G= (p.Gly174=) n.760G= c.1176G= c.4840G= (p.Gly1614=) n.5223G= c.2029G= (p.Gly677=) n.5221G= | |
14 | g.91278032C>G | CA390612135 | CCDC88C | c.4948G>C (p.Gly1650Arg) c.520G>C (p.Gly174Arg) n.760G>C c.1176G>C c.4840G>C (p.Gly1614Arg) n.5223G>C c.2029G>C (p.Gly677Arg) n.5221G>C | |
14 | g.91278032C>T | CA265523855 | CCDC88C | c.4948G>A (p.Gly1650Ser) c.520G>A (p.Gly174Ser) n.760G>A c.1176G>A c.4840G>A (p.Gly1614Ser) n.5223G>A c.2029G>A (p.Gly677Ser) n.5221G>A | dbSNP |
14 | g.91278032_91278033insAC | CA709866132 | CCDC88C | c.4948_4949insTG (p.Gly1650ValfsTer?) c.520_521insTG (p.Gly174ValfsTer?) n.760_761insTG c.1176_1177insTG c.4840_4841insTG (p.Gly1614ValfsTer?) n.5223_5224insTG c.2029_2030insTG (p.Gly677ValfsTer?) n.5221_5222insTG | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91278033C>A | CA390612137 | CCDC88C | c.4947G>T (p.Arg1649Ser) c.519G>T (p.Arg173Ser) n.759G>T c.1175G>T c.4839G>T (p.Arg1613Ser) n.5222G>T c.2028G>T (p.Arg676Ser) n.5220G>T | |
14 | g.91278033C= | CA2154908858 | CCDC88C | c.4947G= (p.Arg1649=) c.519G= (p.Arg173=) n.759G= c.1175G= c.4839G= (p.Arg1613=) n.5222G= c.2028G= (p.Arg676=) n.5220G= | |
14 | g.91278033C>G | CA390612139 | CCDC88C | c.4947G>C (p.Arg1649Ser) c.519G>C (p.Arg173Ser) n.759G>C c.1175G>C c.4839G>C (p.Arg1613Ser) n.5222G>C c.2028G>C (p.Arg676Ser) n.5220G>C | |
14 | g.91278033C>T | CA487540295 | CCDC88C | c.4947G>A (p.Arg1649=) c.519G>A (p.Arg173=) n.759G>A c.1175G>A c.4839G>A (p.Arg1613=) n.5222G>A c.2028G>A (p.Arg676=) n.5220G>A | dbSNP gnomAD v4 |
14 | g.91278034C>A | CA390612142 | CCDC88C | c.4946G>T (p.Arg1649Met) c.518G>T (p.Arg173Met) n.758G>T c.1174G>T c.4838G>T (p.Arg1613Met) n.5221G>T c.2027G>T (p.Arg676Met) n.5219G>T | |
14 | g.91278034C>G | CA390612143 | CCDC88C | c.4946G>C (p.Arg1649Thr) c.518G>C (p.Arg173Thr) n.758G>C c.1174G>C c.4838G>C (p.Arg1613Thr) n.5221G>C c.2027G>C (p.Arg676Thr) n.5219G>C | gnomAD v4 |
14 | g.91278034C>T | CA390612145 | CCDC88C | c.4946G>A (p.Arg1649Lys) c.518G>A (p.Arg173Lys) n.758G>A c.1174G>A c.4838G>A (p.Arg1613Lys) n.5221G>A c.2027G>A (p.Arg676Lys) n.5219G>A | |
14 | g.91278035T>A | CA390612147 | CCDC88C | c.4945A>T (p.Arg1649Trp) c.517A>T (p.Arg173Trp) n.757A>T c.1173A>T c.4837A>T (p.Arg1613Trp) n.5220A>T c.2026A>T (p.Arg676Trp) n.5218A>T | |
14 | g.91278035T>C | CA390612149 | CCDC88C | c.4945A>G (p.Arg1649Gly) c.517A>G (p.Arg173Gly) n.757A>G c.1173A>G c.4837A>G (p.Arg1613Gly) n.5220A>G c.2026A>G (p.Arg676Gly) n.5218A>G | dbSNP |
14 | g.91278035T>G | CA487540296 | CCDC88C | c.4945A>C (p.Arg1649=) c.517A>C (p.Arg173=) n.757A>C c.1173A>C c.4837A>C (p.Arg1613=) n.5220A>C c.2026A>C (p.Arg676=) n.5218A>C | |
14 | g.91278035T= | CA2154908859 | CCDC88C | c.4945A= (p.Arg1649=) c.517A= (p.Arg173=) n.757A= c.1173A= c.4837A= (p.Arg1613=) n.5220A= c.2026A= (p.Arg676=) n.5218A= | |
14 | g.91278036C>A | CA265523857 | CCDC88C | c.4944G>T (p.Lys1648Asn) c.516G>T (p.Lys172Asn) n.756G>T c.1172G>T c.4836G>T (p.Lys1612Asn) n.5219G>T c.2025G>T (p.Lys675Asn) n.5217G>T | dbSNP gnomAD v4 |
14 | g.91278036C= | CA2154908860 | CCDC88C | c.4944G= (p.Lys1648=) c.516G= (p.Lys172=) n.756G= c.1172G= c.4836G= (p.Lys1612=) n.5219G= c.2025G= (p.Lys675=) n.5217G= | |
14 | g.91278036C>G | CA390612152 | CCDC88C | c.4944G>C (p.Lys1648Asn) c.516G>C (p.Lys172Asn) n.756G>C c.1172G>C c.4836G>C (p.Lys1612Asn) n.5219G>C c.2025G>C (p.Lys675Asn) n.5217G>C | |
14 | g.91278036C>T | CA487540297 | CCDC88C | c.4944G>A (p.Lys1648=) c.516G>A (p.Lys172=) n.756G>A c.1172G>A c.4836G>A (p.Lys1612=) n.5219G>A c.2025G>A (p.Lys675=) n.5217G>A | COSMIC COSMIC COSMIC |
14 | g.91278037T>A | CA390612154 | CCDC88C | c.4943A>T (p.Lys1648Met) c.515A>T (p.Lys172Met) n.755A>T c.1171A>T c.4835A>T (p.Lys1612Met) n.5218A>T c.2024A>T (p.Lys675Met) n.5216A>T | |
14 | g.91278037T>C | CA390612156 | CCDC88C | c.4943A>G (p.Lys1648Arg) c.515A>G (p.Lys172Arg) n.755A>G c.1171A>G c.4835A>G (p.Lys1612Arg) n.5218A>G c.2024A>G (p.Lys675Arg) n.5216A>G | |
14 | g.91278037T>G | CA390612159 | CCDC88C | c.4943A>C (p.Lys1648Thr) c.515A>C (p.Lys172Thr) n.755A>C c.1171A>C c.4835A>C (p.Lys1612Thr) n.5218A>C c.2024A>C (p.Lys675Thr) n.5216A>C | |
14 | g.91278038T>A | CA390612165 | CCDC88C | c.4942A>T (p.Lys1648Ter) c.514A>T (p.Lys172Ter) n.754A>T c.1170A>T c.4834A>T (p.Lys1612Ter) n.5217A>T c.2023A>T (p.Lys675Ter) n.5215A>T | |
14 | g.91278038T>C | CA390612161 | CCDC88C | c.4942A>G (p.Lys1648Glu) c.514A>G (p.Lys172Glu) n.754A>G c.1170A>G c.4834A>G (p.Lys1612Glu) n.5217A>G c.2023A>G (p.Lys675Glu) n.5215A>G | |
14 | g.91278038T>G | CA390612163 | CCDC88C | c.4942A>C (p.Lys1648Gln) c.514A>C (p.Lys172Gln) n.754A>C c.1170A>C c.4834A>C (p.Lys1612Gln) n.5217A>C c.2023A>C (p.Lys675Gln) n.5215A>C | |
14 | g.91278039C>A | CA390612167 | CCDC88C | c.4941G>T (p.Gln1647His) c.513G>T (p.Gln171His) n.753G>T c.1169G>T c.4833G>T (p.Gln1611His) n.5216G>T c.2022G>T (p.Gln674His) n.5214G>T | |
14 | g.91278039C>G | CA390612169 | CCDC88C | c.4941G>C (p.Gln1647His) c.513G>C (p.Gln171His) n.753G>C c.1169G>C c.4833G>C (p.Gln1611His) n.5216G>C c.2022G>C (p.Gln674His) n.5214G>C | |
14 | g.91278039C>T | CA487540298 | CCDC88C | c.4941G>A (p.Gln1647=) c.513G>A (p.Gln171=) n.753G>A c.1169G>A c.4833G>A (p.Gln1611=) n.5216G>A c.2022G>A (p.Gln674=) n.5214G>A | |
14 | g.91278040T>A | CA390612171 | CCDC88C | c.4940A>T (p.Gln1647Leu) c.512A>T (p.Gln171Leu) n.752A>T c.1168A>T c.4832A>T (p.Gln1611Leu) n.5215A>T c.2021A>T (p.Gln674Leu) n.5213A>T | |
14 | g.91278040T>C | CA390612173 | CCDC88C | c.4940A>G (p.Gln1647Arg) c.512A>G (p.Gln171Arg) n.752A>G c.1168A>G c.4832A>G (p.Gln1611Arg) n.5215A>G c.2021A>G (p.Gln674Arg) n.5213A>G | dbSNP gnomAD v4 |
14 | g.91278040T>G | CA390612174 | CCDC88C | c.4940A>C (p.Gln1647Pro) c.512A>C (p.Gln171Pro) n.752A>C c.1168A>C c.4832A>C (p.Gln1611Pro) n.5215A>C c.2021A>C (p.Gln674Pro) n.5213A>C | |
14 | g.91278040T= | CA2154908861 | CCDC88C | c.4940A= (p.Gln1647=) c.512A= (p.Gln171=) n.752A= c.1168A= c.4832A= (p.Gln1611=) n.5215A= c.2021A= (p.Gln674=) n.5213A= | |
14 | g.91278041G>A | CA390612176 | CCDC88C | c.4939C>T (p.Gln1647Ter) c.511C>T (p.Gln171Ter) n.751C>T c.1167C>T c.4831C>T (p.Gln1611Ter) n.5214C>T c.2020C>T (p.Gln674Ter) n.5212C>T | |
14 | g.91278041G>C | CA390612178 | CCDC88C | c.4939C>G (p.Gln1647Glu) c.511C>G (p.Gln171Glu) n.751C>G c.1167C>G c.4831C>G (p.Gln1611Glu) n.5214C>G c.2020C>G (p.Gln674Glu) n.5212C>G | |
14 | g.91278041G>T | CA390612179 | CCDC88C | c.4939C>A (p.Gln1647Lys) c.511C>A (p.Gln171Lys) n.751C>A c.1167C>A c.4831C>A (p.Gln1611Lys) n.5214C>A c.2020C>A (p.Gln674Lys) n.5212C>A | |
14 | g.91278042G>A | CA487540299 | CCDC88C | c.4938C>T (p.Ala1646=) c.510C>T (p.Ala170=) n.750C>T c.1166C>T c.4830C>T (p.Ala1610=) n.5213C>T c.2019C>T (p.Ala673=) n.5211C>T | |
14 | g.91278042G>C | CA487540300 | CCDC88C | c.4938C>G (p.Ala1646=) c.510C>G (p.Ala170=) n.750C>G c.1166C>G c.4830C>G (p.Ala1610=) n.5213C>G c.2019C>G (p.Ala673=) n.5211C>G | |
14 | g.91278042G>T | CA487540301 | CCDC88C | c.4938C>A (p.Ala1646=) c.510C>A (p.Ala170=) n.750C>A c.1166C>A c.4830C>A (p.Ala1610=) n.5213C>A c.2019C>A (p.Ala673=) n.5211C>A | gnomAD v4 |
14 | g.91278043G>A | CA7308788 | CCDC88C | c.4937C>T (p.Ala1646Val) c.509C>T (p.Ala170Val) n.749C>T c.1165C>T c.4829C>T (p.Ala1610Val) n.5212C>T c.2018C>T (p.Ala673Val) n.5210C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278043G>C | CA390612182 | CCDC88C | c.4937C>G (p.Ala1646Gly) c.509C>G (p.Ala170Gly) n.749C>G c.1165C>G c.4829C>G (p.Ala1610Gly) n.5212C>G c.2018C>G (p.Ala673Gly) n.5210C>G | |
14 | g.91278043G= | CA2154908862 | CCDC88C | c.4937C= (p.Ala1646=) c.509C= (p.Ala170=) n.749C= c.1165C= c.4829C= (p.Ala1610=) n.5212C= c.2018C= (p.Ala673=) n.5210C= | |
14 | g.91278043G>T | CA390612183 | CCDC88C | c.4937C>A (p.Ala1646Asp) c.509C>A (p.Ala170Asp) n.749C>A c.1165C>A c.4829C>A (p.Ala1610Asp) n.5212C>A c.2018C>A (p.Ala673Asp) n.5210C>A | gnomAD v4 |
14 | g.91278044C>A | CA390612188 | CCDC88C | c.4936G>T (p.Ala1646Ser) c.508G>T (p.Ala170Ser) n.748G>T c.1164G>T c.4828G>T (p.Ala1610Ser) n.5211G>T c.2017G>T (p.Ala673Ser) n.5209G>T | |
14 | g.91278044C= | CA2154908863 | CCDC88C | c.4936G= (p.Ala1646=) c.508G= (p.Ala170=) n.748G= c.1164G= c.4828G= (p.Ala1610=) n.5211G= c.2017G= (p.Ala673=) n.5209G= | |
14 | g.91278044C>G | CA7308789 | CCDC88C | c.4936G>C (p.Ala1646Pro) c.508G>C (p.Ala170Pro) n.748G>C c.1164G>C c.4828G>C (p.Ala1610Pro) n.5211G>C c.2017G>C (p.Ala673Pro) n.5209G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278044C>T | CA390612186 | CCDC88C | c.4936G>A (p.Ala1646Thr) c.508G>A (p.Ala170Thr) n.748G>A c.1164G>A c.4828G>A (p.Ala1610Thr) n.5211G>A c.2017G>A (p.Ala673Thr) n.5209G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278045A= | CA2154908864 | CCDC88C | c.4935T= (p.Gly1645=) c.507T= (p.Gly169=) n.747T= c.1163T= c.4827T= (p.Gly1609=) n.5210T= c.2016T= (p.Gly672=) n.5208T= | |
14 | g.91278045A>C | CA487540304 | CCDC88C | c.4935T>G (p.Gly1645=) c.507T>G (p.Gly169=) n.747T>G c.1163T>G c.4827T>G (p.Gly1609=) n.5210T>G c.2016T>G (p.Gly672=) n.5208T>G | dbSNP |
14 | g.91278045A>G | CA487540303 | CCDC88C | c.4935T>C (p.Gly1645=) c.507T>C (p.Gly169=) n.747T>C c.1163T>C c.4827T>C (p.Gly1609=) n.5210T>C c.2016T>C (p.Gly672=) n.5208T>C | gnomAD v4 |
14 | g.91278045A>T | CA487540302 | CCDC88C | c.4935T>A (p.Gly1645=) c.507T>A (p.Gly169=) n.747T>A c.1163T>A c.4827T>A (p.Gly1609=) n.5210T>A c.2016T>A (p.Gly672=) n.5208T>A | |
14 | g.91278046C>A | CA390612193 | CCDC88C | c.4934G>T (p.Gly1645Val) c.506G>T (p.Gly169Val) n.746G>T c.1162G>T c.4826G>T (p.Gly1609Val) n.5209G>T c.2015G>T (p.Gly672Val) n.5207G>T | |
14 | g.91278046C= | CA2154908865 | CCDC88C | c.4934G= (p.Gly1645=) c.506G= (p.Gly169=) n.746G= c.1162G= c.4826G= (p.Gly1609=) n.5209G= c.2015G= (p.Gly672=) n.5207G= | |
14 | g.91278046C>G | CA390612190 | CCDC88C | c.4934G>C (p.Gly1645Ala) c.506G>C (p.Gly169Ala) n.746G>C c.1162G>C c.4826G>C (p.Gly1609Ala) n.5209G>C c.2015G>C (p.Gly672Ala) n.5207G>C | gnomAD v4 |
14 | g.91278046C>T | CA390612192 | CCDC88C | c.4934G>A (p.Gly1645Asp) c.506G>A (p.Gly169Asp) n.746G>A c.1162G>A c.4826G>A (p.Gly1609Asp) n.5209G>A c.2015G>A (p.Gly672Asp) n.5207G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278047C>A | CA390612196 | CCDC88C | c.4933G>T (p.Gly1645Cys) c.505G>T (p.Gly169Cys) n.745G>T c.1161G>T c.4825G>T (p.Gly1609Cys) n.5208G>T c.2014G>T (p.Gly672Cys) n.5206G>T | |
14 | g.91278047C= | CA2154908866 | CCDC88C | c.4933G= (p.Gly1645=) c.505G= (p.Gly169=) n.745G= c.1161G= c.4825G= (p.Gly1609=) n.5208G= c.2014G= (p.Gly672=) n.5206G= | |
14 | g.91278047C>G | CA390612198 | CCDC88C | c.4933G>C (p.Gly1645Arg) c.505G>C (p.Gly169Arg) n.745G>C c.1161G>C c.4825G>C (p.Gly1609Arg) n.5208G>C c.2014G>C (p.Gly672Arg) n.5206G>C | |
14 | g.91278047C>T | CA390612199 | CCDC88C | c.4933G>A (p.Gly1645Ser) c.505G>A (p.Gly169Ser) n.745G>A c.1161G>A c.4825G>A (p.Gly1609Ser) n.5208G>A c.2014G>A (p.Gly672Ser) n.5206G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278048C>A | CA390612202 | CCDC88C | c.4932G>T (p.Glu1644Asp) c.504G>T (p.Glu168Asp) n.744G>T c.1160G>T c.4824G>T (p.Glu1608Asp) n.5207G>T c.2013G>T (p.Glu671Asp) n.5205G>T | gnomAD v4 |
14 | g.91278048C= | CA2154908867 | CCDC88C | c.4932G= (p.Glu1644=) c.504G= (p.Glu168=) n.744G= c.1160G= c.4824G= (p.Glu1608=) n.5207G= c.2013G= (p.Glu671=) n.5205G= | |
14 | g.91278048C>G | CA390612203 | CCDC88C | c.4932G>C (p.Glu1644Asp) c.504G>C (p.Glu168Asp) n.744G>C c.1160G>C c.4824G>C (p.Glu1608Asp) n.5207G>C c.2013G>C (p.Glu671Asp) n.5205G>C | |
14 | g.91278048C>T | CA487540306 | CCDC88C | c.4932G>A (p.Glu1644=) c.504G>A (p.Glu168=) n.744G>A c.1160G>A c.4824G>A (p.Glu1608=) n.5207G>A c.2013G>A (p.Glu671=) n.5205G>A | ClinVar dbSNP gnomAD v4 |
14 | g.91278049T>A | CA390612205 | CCDC88C | c.4931A>T (p.Glu1644Val) c.503A>T (p.Glu168Val) n.743A>T c.1159A>T c.4823A>T (p.Glu1608Val) n.5206A>T c.2012A>T (p.Glu671Val) n.5204A>T | dbSNP gnomAD v4 |
14 | g.91278049T>C | CA390612207 | CCDC88C | c.4931A>G (p.Glu1644Gly) c.503A>G (p.Glu168Gly) n.743A>G c.1159A>G c.4823A>G (p.Glu1608Gly) n.5206A>G c.2012A>G (p.Glu671Gly) n.5204A>G | |
14 | g.91278049T>G | CA390612208 | CCDC88C | c.4931A>C (p.Glu1644Ala) c.503A>C (p.Glu168Ala) n.743A>C c.1159A>C c.4823A>C (p.Glu1608Ala) n.5206A>C c.2012A>C (p.Glu671Ala) n.5204A>C | gnomAD v4 |
14 | g.91278049T= | CA2154908868 | CCDC88C | c.4931A= (p.Glu1644=) c.503A= (p.Glu168=) n.743A= c.1159A= c.4823A= (p.Glu1608=) n.5206A= c.2012A= (p.Glu671=) n.5204A= | |
14 | g.91278050C>A | CA390612210 | CCDC88C | c.4930G>T (p.Glu1644Ter) c.502G>T (p.Glu168Ter) n.742G>T c.1158G>T c.4822G>T (p.Glu1608Ter) n.5205G>T c.2011G>T (p.Glu671Ter) n.5203G>T | |
14 | g.91278050C= | CA2154908869 | CCDC88C | c.4930G= (p.Glu1644=) c.502G= (p.Glu168=) n.742G= c.1158G= c.4822G= (p.Glu1608=) n.5205G= c.2011G= (p.Glu671=) n.5203G= | |
14 | g.91278050C>G | CA390612212 | CCDC88C | c.4930G>C (p.Glu1644Gln) c.502G>C (p.Glu168Gln) n.742G>C c.1158G>C c.4822G>C (p.Glu1608Gln) n.5205G>C c.2011G>C (p.Glu671Gln) n.5203G>C | gnomAD v4 |
14 | g.91278050C>T | CA390612214 | CCDC88C | c.4930G>A (p.Glu1644Lys) c.502G>A (p.Glu168Lys) n.742G>A c.1158G>A c.4822G>A (p.Glu1608Lys) n.5205G>A c.2011G>A (p.Glu671Lys) n.5203G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278051C>A | CA390612219 | CCDC88C | c.4929G>T (p.Gln1643His) c.501G>T (p.Gln167His) n.741G>T c.1157G>T c.4821G>T (p.Gln1607His) n.5204G>T c.2010G>T (p.Gln670His) n.5202G>T | |
14 | g.91278051C= | CA2154908870 | CCDC88C | c.4929G= (p.Gln1643=) c.501G= (p.Gln167=) n.741G= c.1157G= c.4821G= (p.Gln1607=) n.5204G= c.2010G= (p.Gln670=) n.5202G= | |
14 | g.91278051C>G | CA390612216 | CCDC88C | c.4929G>C (p.Gln1643His) c.501G>C (p.Gln167His) n.741G>C c.1157G>C c.4821G>C (p.Gln1607His) n.5204G>C c.2010G>C (p.Gln670His) n.5202G>C | |
14 | g.91278051C>T | CA7308790 | CCDC88C | c.4929G>A (p.Gln1643=) c.501G>A (p.Gln167=) n.741G>A c.1157G>A c.4821G>A (p.Gln1607=) n.5204G>A c.2010G>A (p.Gln670=) n.5202G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278052T>A | CA390612222 | CCDC88C | c.4928A>T (p.Gln1643Leu) c.500A>T (p.Gln167Leu) n.740A>T c.1156A>T c.4820A>T (p.Gln1607Leu) n.5203A>T c.2009A>T (p.Gln670Leu) n.5201A>T | |
14 | g.91278052T>C | CA390612223 | CCDC88C | c.4928A>G (p.Gln1643Arg) c.500A>G (p.Gln167Arg) n.740A>G c.1156A>G c.4820A>G (p.Gln1607Arg) n.5203A>G c.2009A>G (p.Gln670Arg) n.5201A>G | gnomAD v4 |
14 | g.91278052T>G | CA390612225 | CCDC88C | c.4928A>C (p.Gln1643Pro) c.500A>C (p.Gln167Pro) n.740A>C c.1156A>C c.4820A>C (p.Gln1607Pro) n.5203A>C c.2009A>C (p.Gln670Pro) n.5201A>C | |
14 | g.91278053G>A | CA390612227 | CCDC88C | c.4927C>T (p.Gln1643Ter) c.499C>T (p.Gln167Ter) n.739C>T c.1155C>T c.4819C>T (p.Gln1607Ter) n.5202C>T c.2008C>T (p.Gln670Ter) n.5200C>T | |
14 | g.91278053G>C | CA390612229 | CCDC88C | c.4927C>G (p.Gln1643Glu) c.499C>G (p.Gln167Glu) n.739C>G c.1155C>G c.4819C>G (p.Gln1607Glu) n.5202C>G c.2008C>G (p.Gln670Glu) n.5200C>G | |
14 | g.91278053G>T | CA390612230 | CCDC88C | c.4927C>A (p.Gln1643Lys) c.499C>A (p.Gln167Lys) n.739C>A c.1155C>A c.4819C>A (p.Gln1607Lys) n.5202C>A c.2008C>A (p.Gln670Lys) n.5200C>A | |
14 | g.91278054T>A | CA487540307 | CCDC88C | c.4926A>T (p.Pro1642=) c.498A>T (p.Pro166=) n.738A>T c.1154A>T c.4818A>T (p.Pro1606=) n.5201A>T c.2007A>T (p.Pro669=) n.5199A>T | |
14 | g.91278054T>C | CA487540308 | CCDC88C | c.4926A>G (p.Pro1642=) c.498A>G (p.Pro166=) n.738A>G c.1154A>G c.4818A>G (p.Pro1606=) n.5201A>G c.2007A>G (p.Pro669=) n.5199A>G | |
14 | g.91278054T>G | CA487540309 | CCDC88C | c.4926A>C (p.Pro1642=) c.498A>C (p.Pro166=) n.738A>C c.1154A>C c.4818A>C (p.Pro1606=) n.5201A>C c.2007A>C (p.Pro669=) n.5199A>C | |
14 | g.91278055G>A | CA390612233 | CCDC88C | c.4925C>T (p.Pro1642Leu) c.497C>T (p.Pro166Leu) n.737C>T c.1153C>T c.4817C>T (p.Pro1606Leu) n.5200C>T c.2006C>T (p.Pro669Leu) n.5198C>T | |
14 | g.91278055G>C | CA390612235 | CCDC88C | c.4925C>G (p.Pro1642Arg) c.497C>G (p.Pro166Arg) n.737C>G c.1153C>G c.4817C>G (p.Pro1606Arg) n.5200C>G c.2006C>G (p.Pro669Arg) n.5198C>G | |
14 | g.91278055G>T | CA390612237 | CCDC88C | c.4925C>A (p.Pro1642Gln) c.497C>A (p.Pro166Gln) n.737C>A c.1153C>A c.4817C>A (p.Pro1606Gln) n.5200C>A c.2006C>A (p.Pro669Gln) n.5198C>A | |
14 | g.91278056G>A | CA390612239 | CCDC88C | c.4924C>T (p.Pro1642Ser) c.496C>T (p.Pro166Ser) n.736C>T c.1152C>T c.4816C>T (p.Pro1606Ser) n.5199C>T c.2005C>T (p.Pro669Ser) n.5197C>T | |
14 | g.91278056G>C | CA390612240 | CCDC88C | c.4924C>G (p.Pro1642Ala) c.496C>G (p.Pro166Ala) n.736C>G c.1152C>G c.4816C>G (p.Pro1606Ala) n.5199C>G c.2005C>G (p.Pro669Ala) n.5197C>G | |
14 | g.91278056G>T | CA390612242 | CCDC88C | c.4924C>A (p.Pro1642Thr) c.496C>A (p.Pro166Thr) n.736C>A c.1152C>A c.4816C>A (p.Pro1606Thr) n.5199C>A c.2005C>A (p.Pro669Thr) n.5197C>A | |
14 | g.91278057G>A | CA487540310 | CCDC88C | c.4923C>T (p.Leu1641=) c.495C>T (p.Leu165=) n.735C>T c.1151C>T c.4815C>T (p.Leu1605=) n.5198C>T c.2004C>T (p.Leu668=) n.5196C>T | gnomAD v4 |
14 | g.91278057G>C | CA487540311 | CCDC88C | c.4923C>G (p.Leu1641=) c.495C>G (p.Leu165=) n.735C>G c.1151C>G c.4815C>G (p.Leu1605=) n.5198C>G c.2004C>G (p.Leu668=) n.5196C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91278057G= | CA2154908871 | CCDC88C | c.4923C= (p.Leu1641=) c.495C= (p.Leu165=) n.735C= c.1151C= c.4815C= (p.Leu1605=) n.5198C= c.2004C= (p.Leu668=) n.5196C= | |
14 | g.91278057G>T | CA487540312 | CCDC88C | c.4923C>A (p.Leu1641=) c.495C>A (p.Leu165=) n.735C>A c.1151C>A c.4815C>A (p.Leu1605=) n.5198C>A c.2004C>A (p.Leu668=) n.5196C>A | gnomAD v4 |
14 | g.91278058A>C | CA390612246 | CCDC88C | c.4922T>G (p.Leu1641Arg) c.494T>G (p.Leu165Arg) n.734T>G c.1150T>G c.4814T>G (p.Leu1605Arg) n.5197T>G c.2003T>G (p.Leu668Arg) n.5195T>G | |
14 | g.91278058A>G | CA390612248 | CCDC88C | c.4922T>C (p.Leu1641Pro) c.494T>C (p.Leu165Pro) n.734T>C c.1150T>C c.4814T>C (p.Leu1605Pro) n.5197T>C c.2003T>C (p.Leu668Pro) n.5195T>C | |
14 | g.91278058A>T | CA390612245 | CCDC88C | c.4922T>A (p.Leu1641His) c.494T>A (p.Leu165His) n.734T>A c.1150T>A c.4814T>A (p.Leu1605His) n.5197T>A c.2003T>A (p.Leu668His) n.5195T>A | |
14 | g.91278059G>A | CA390612250 | CCDC88C | c.4921C>T (p.Leu1641Phe) c.493C>T (p.Leu165Phe) n.733C>T c.1149C>T c.4813C>T (p.Leu1605Phe) n.5196C>T c.2002C>T (p.Leu668Phe) n.5194C>T | |
14 | g.91278059G>C | CA390612254 | CCDC88C | c.4921C>G (p.Leu1641Val) c.493C>G (p.Leu165Val) n.733C>G c.1149C>G c.4813C>G (p.Leu1605Val) n.5196C>G c.2002C>G (p.Leu668Val) n.5194C>G | dbSNP |
14 | g.91278059G= | CA2154908872 | CCDC88C | c.4921C= (p.Leu1641=) c.493C= (p.Leu165=) n.733C= c.1149C= c.4813C= (p.Leu1605=) n.5196C= c.2002C= (p.Leu668=) n.5194C= | |
14 | g.91278059G>T | CA390612252 | CCDC88C | c.4921C>A (p.Leu1641Ile) c.493C>A (p.Leu165Ile) n.733C>A c.1149C>A c.4813C>A (p.Leu1605Ile) n.5196C>A c.2002C>A (p.Leu668Ile) n.5194C>A | gnomAD v4 |
14 | g.91278060A= | CA2154908873 | CCDC88C | c.4920T= (p.Pro1640=) c.492T= (p.Pro164=) n.732T= c.1148T= c.4812T= (p.Pro1604=) n.5195T= c.2001T= (p.Pro667=) n.5193T= | |
14 | g.91278060A>C | CA487540313 | CCDC88C | c.4920T>G (p.Pro1640=) c.492T>G (p.Pro164=) n.732T>G c.1148T>G c.4812T>G (p.Pro1604=) n.5195T>G c.2001T>G (p.Pro667=) n.5193T>G | |
14 | g.91278060A>G | CA7308791 | CCDC88C | c.4920T>C (p.Pro1640=) c.492T>C (p.Pro164=) n.732T>C c.1148T>C c.4812T>C (p.Pro1604=) n.5195T>C c.2001T>C (p.Pro667=) n.5193T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278060A>T | CA487540314 | CCDC88C | c.4920T>A (p.Pro1640=) c.492T>A (p.Pro164=) n.732T>A c.1148T>A c.4812T>A (p.Pro1604=) n.5195T>A c.2001T>A (p.Pro667=) n.5193T>A | |
14 | g.91278061G>A | CA390612257 | CCDC88C | c.4919C>T (p.Pro1640Leu) c.491C>T (p.Pro164Leu) n.731C>T c.1147C>T c.4811C>T (p.Pro1604Leu) n.5194C>T c.2000C>T (p.Pro667Leu) n.5192C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278061G>C | CA390612259 | CCDC88C | c.4919C>G (p.Pro1640Arg) c.491C>G (p.Pro164Arg) n.731C>G c.1147C>G c.4811C>G (p.Pro1604Arg) n.5194C>G c.2000C>G (p.Pro667Arg) n.5192C>G | |
14 | g.91278061G= | CA2154908874 | CCDC88C | c.4919C= (p.Pro1640=) c.491C= (p.Pro164=) n.731C= c.1147C= c.4811C= (p.Pro1604=) n.5194C= c.2000C= (p.Pro667=) n.5192C= | |
14 | g.91278061G>T | CA390612261 | CCDC88C | c.4919C>A (p.Pro1640His) c.491C>A (p.Pro164His) n.731C>A c.1147C>A c.4811C>A (p.Pro1604His) n.5194C>A c.2000C>A (p.Pro667His) n.5192C>A | gnomAD v4 |
14 | g.91278062G>A | CA390612264 | CCDC88C | c.4918C>T (p.Pro1640Ser) c.490C>T (p.Pro164Ser) n.730C>T c.1146C>T c.4810C>T (p.Pro1604Ser) n.5193C>T c.1999C>T (p.Pro667Ser) n.5191C>T | dbSNP |
14 | g.91278062G>C | CA390612265 | CCDC88C | c.4918C>G (p.Pro1640Ala) c.490C>G (p.Pro164Ala) n.730C>G c.1146C>G c.4810C>G (p.Pro1604Ala) n.5193C>G c.1999C>G (p.Pro667Ala) n.5191C>G | |
14 | g.91278062G= | CA2154908875 | CCDC88C | c.4918C= (p.Pro1640=) c.490C= (p.Pro164=) n.730C= c.1146C= c.4810C= (p.Pro1604=) n.5193C= c.1999C= (p.Pro667=) n.5191C= | |
14 | g.91278062G>T | CA7308792 | CCDC88C | c.4918C>A (p.Pro1640Thr) c.490C>A (p.Pro164Thr) n.730C>A c.1146C>A c.4810C>A (p.Pro1604Thr) n.5193C>A c.1999C>A (p.Pro667Thr) n.5191C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278063C>A | CA487540316 | CCDC88C | c.4917G>T (p.Gly1639=) c.489G>T (p.Gly163=) n.729G>T c.1145G>T c.4809G>T (p.Gly1603=) n.5192G>T c.1998G>T (p.Gly666=) n.5190G>T | |
14 | g.91278063C= | CA2154908876 | CCDC88C | c.4917G= (p.Gly1639=) c.489G= (p.Gly163=) n.729G= c.1145G= c.4809G= (p.Gly1603=) n.5192G= c.1998G= (p.Gly666=) n.5190G= | |
14 | g.91278063C>G | CA7308793 | CCDC88C | c.4917G>C (p.Gly1639=) c.489G>C (p.Gly163=) n.729G>C c.1145G>C c.4809G>C (p.Gly1603=) n.5192G>C c.1998G>C (p.Gly666=) n.5190G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278063C>T | CA265523909 | CCDC88C | c.4917G>A (p.Gly1639=) c.489G>A (p.Gly163=) n.729G>A c.1145G>A c.4809G>A (p.Gly1603=) n.5192G>A c.1998G>A (p.Gly666=) n.5190G>A | dbSNP gnomAD v4 |
14 | g.91278064C>A | CA390612269 | CCDC88C | c.4916G>T (p.Gly1639Val) c.488G>T (p.Gly163Val) n.728G>T c.1144G>T c.4808G>T (p.Gly1603Val) n.5191G>T c.1997G>T (p.Gly666Val) n.5189G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91278064C= | CA2154908877 | CCDC88C | c.4916G= (p.Gly1639=) c.488G= (p.Gly163=) n.728G= c.1144G= c.4808G= (p.Gly1603=) n.5191G= c.1997G= (p.Gly666=) n.5189G= | |
14 | g.91278064C>G | CA390612270 | CCDC88C | c.4916G>C (p.Gly1639Ala) c.488G>C (p.Gly163Ala) n.728G>C c.1144G>C c.4808G>C (p.Gly1603Ala) n.5191G>C c.1997G>C (p.Gly666Ala) n.5189G>C | |
14 | g.91278064C>T | CA390612271 | CCDC88C | c.4916G>A (p.Gly1639Glu) c.488G>A (p.Gly163Glu) n.728G>A c.1144G>A c.4808G>A (p.Gly1603Glu) n.5191G>A c.1997G>A (p.Gly666Glu) n.5189G>A | |
14 | g.91278065C>A | CA390612274 | CCDC88C | c.4915G>T (p.Gly1639Trp) c.487G>T (p.Gly163Trp) n.727G>T c.1143G>T c.4807G>T (p.Gly1603Trp) n.5190G>T c.1996G>T (p.Gly666Trp) n.5188G>T | |
14 | g.91278065C= | CA2154908878 | CCDC88C | c.4915G= (p.Gly1639=) c.487G= (p.Gly163=) n.727G= c.1143G= c.4807G= (p.Gly1603=) n.5190G= c.1996G= (p.Gly666=) n.5188G= | |
14 | g.91278065C>G | CA390612272 | CCDC88C | c.4915G>C (p.Gly1639Arg) c.487G>C (p.Gly163Arg) n.727G>C c.1143G>C c.4807G>C (p.Gly1603Arg) n.5190G>C c.1996G>C (p.Gly666Arg) n.5188G>C | COSMIC |
14 | g.91278065C>T | CA7308794 | CCDC88C | c.4915G>A (p.Gly1639Arg) c.487G>A (p.Gly163Arg) n.727G>A c.1143G>A c.4807G>A (p.Gly1603Arg) n.5190G>A c.1996G>A (p.Gly666Arg) n.5188G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278066G>A | CA7308795 | CCDC88C | c.4914C>T (p.Asn1638=) c.486C>T (p.Asn162=) n.726C>T c.1142C>T c.4806C>T (p.Asn1602=) n.5189C>T c.1995C>T (p.Asn665=) n.5187C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278066G>C | CA390612277 | CCDC88C | c.4914C>G (p.Asn1638Lys) c.486C>G (p.Asn162Lys) n.726C>G c.1142C>G c.4806C>G (p.Asn1602Lys) n.5189C>G c.1995C>G (p.Asn665Lys) n.5187C>G | |
14 | g.91278066G= | CA2154908879 | CCDC88C | c.4914C= (p.Asn1638=) c.486C= (p.Asn162=) n.726C= c.1142C= c.4806C= (p.Asn1602=) n.5189C= c.1995C= (p.Asn665=) n.5187C= | |
14 | g.91278066G>T | CA390612279 | CCDC88C | c.4914C>A (p.Asn1638Lys) c.486C>A (p.Asn162Lys) n.726C>A c.1142C>A c.4806C>A (p.Asn1602Lys) n.5189C>A c.1995C>A (p.Asn665Lys) n.5187C>A | |
14 | g.91278067T>A | CA390612281 | CCDC88C | c.4913A>T (p.Asn1638Ile) c.485A>T (p.Asn162Ile) n.725A>T c.1141A>T c.4805A>T (p.Asn1602Ile) n.5188A>T c.1994A>T (p.Asn665Ile) n.5186A>T | |
14 | g.91278067T>C | CA7308796 | CCDC88C | c.4913A>G (p.Asn1638Ser) c.485A>G (p.Asn162Ser) n.725A>G c.1141A>G c.4805A>G (p.Asn1602Ser) n.5188A>G c.1994A>G (p.Asn665Ser) n.5186A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278067T>G | CA390612284 | CCDC88C | c.4913A>C (p.Asn1638Thr) c.485A>C (p.Asn162Thr) n.725A>C c.1141A>C c.4805A>C (p.Asn1602Thr) n.5188A>C c.1994A>C (p.Asn665Thr) n.5186A>C | |
14 | g.91278067T= | CA2154908880 | CCDC88C | c.4913A= (p.Asn1638=) c.485A= (p.Asn162=) n.725A= c.1141A= c.4805A= (p.Asn1602=) n.5188A= c.1994A= (p.Asn665=) n.5186A= | |
14 | g.91278068T>A | CA390612286 | CCDC88C | c.4912A>T (p.Asn1638Tyr) c.484A>T (p.Asn162Tyr) n.724A>T c.1140A>T c.4804A>T (p.Asn1602Tyr) n.5187A>T c.1993A>T (p.Asn665Tyr) n.5185A>T | |
14 | g.91278068T>C | CA390612288 | CCDC88C | c.4912A>G (p.Asn1638Asp) c.484A>G (p.Asn162Asp) n.724A>G c.1140A>G c.4804A>G (p.Asn1602Asp) n.5187A>G c.1993A>G (p.Asn665Asp) n.5185A>G | |
14 | g.91278068T>G | CA390612290 | CCDC88C | c.4912A>C (p.Asn1638His) c.484A>C (p.Asn162His) n.724A>C c.1140A>C c.4804A>C (p.Asn1602His) n.5187A>C c.1993A>C (p.Asn665His) n.5185A>C | |
14 | g.91278069C>A | CA487540317 | CCDC88C | c.4911G>T (p.Arg1637=) c.483G>T (p.Arg161=) n.723G>T c.1139G>T c.4803G>T (p.Arg1601=) n.5186G>T c.1992G>T (p.Arg664=) n.5184G>T | gnomAD v4 |
14 | g.91278069C= | CA2154908881 | CCDC88C | c.4911G= (p.Arg1637=) c.483G= (p.Arg161=) n.723G= c.1139G= c.4803G= (p.Arg1601=) n.5186G= c.1992G= (p.Arg664=) n.5184G= | |
14 | g.91278069C>G | CA487540318 | CCDC88C | c.4911G>C (p.Arg1637=) c.483G>C (p.Arg161=) n.723G>C c.1139G>C c.4803G>C (p.Arg1601=) n.5186G>C c.1992G>C (p.Arg664=) n.5184G>C | |
14 | g.91278069C>T | CA7308797 | CCDC88C | c.4911G>A (p.Arg1637=) c.483G>A (p.Arg161=) n.723G>A c.1139G>A c.4803G>A (p.Arg1601=) n.5186G>A c.1992G>A (p.Arg664=) n.5184G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278070C>A | CA390612294 | CCDC88C | c.4910G>T (p.Arg1637Leu) c.482G>T (p.Arg161Leu) n.722G>T c.1138G>T c.4802G>T (p.Arg1601Leu) n.5185G>T c.1991G>T (p.Arg664Leu) n.5183G>T | |
14 | g.91278070C= | CA2154908882 | CCDC88C | c.4910G= (p.Arg1637=) c.482G= (p.Arg161=) n.722G= c.1138G= c.4802G= (p.Arg1601=) n.5185G= c.1991G= (p.Arg664=) n.5183G= | |
14 | g.91278070C>G | CA390612296 | CCDC88C | c.4910G>C (p.Arg1637Pro) c.482G>C (p.Arg161Pro) n.722G>C c.1138G>C c.4802G>C (p.Arg1601Pro) n.5185G>C c.1991G>C (p.Arg664Pro) n.5183G>C | |
14 | g.91278070C>T | CA7308798 | CCDC88C | c.4910G>A (p.Arg1637Gln) c.482G>A (p.Arg161Gln) n.722G>A c.1138G>A c.4802G>A (p.Arg1601Gln) n.5185G>A c.1991G>A (p.Arg664Gln) n.5183G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278071G>A | CA7308799 | CCDC88C | c.4909C>T (p.Arg1637Trp) c.481C>T (p.Arg161Trp) n.721C>T c.1137C>T c.4801C>T (p.Arg1601Trp) n.5184C>T c.1990C>T (p.Arg664Trp) n.5182C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278071G>C | CA390612299 | CCDC88C | c.4909C>G (p.Arg1637Gly) c.481C>G (p.Arg161Gly) n.721C>G c.1137C>G c.4801C>G (p.Arg1601Gly) n.5184C>G c.1990C>G (p.Arg664Gly) n.5182C>G | |
14 | g.91278071G= | CA2154908883 | CCDC88C | c.4909C= (p.Arg1637=) c.481C= (p.Arg161=) n.721C= c.1137C= c.4801C= (p.Arg1601=) n.5184C= c.1990C= (p.Arg664=) n.5182C= | |
14 | g.91278071G>T | CA487540319 | CCDC88C | c.4909C>A (p.Arg1637=) c.481C>A (p.Arg161=) n.721C>A c.1137C>A c.4801C>A (p.Arg1601=) n.5184C>A c.1990C>A (p.Arg664=) n.5182C>A | |
14 | g.91278072A>C | CA487540321 | CCDC88C | c.4908T>G (p.Pro1636=) c.480T>G (p.Pro160=) n.720T>G c.1136T>G c.4800T>G (p.Pro1600=) n.5183T>G c.1989T>G (p.Pro663=) n.5181T>G | |
14 | g.91278072A>G | CA487540322 | CCDC88C | c.4908T>C (p.Pro1636=) c.480T>C (p.Pro160=) n.720T>C c.1136T>C c.4800T>C (p.Pro1600=) n.5183T>C c.1989T>C (p.Pro663=) n.5181T>C | |
14 | g.91278072A>T | CA487540320 | CCDC88C | c.4908T>A (p.Pro1636=) c.480T>A (p.Pro160=) n.720T>A c.1136T>A c.4800T>A (p.Pro1600=) n.5183T>A c.1989T>A (p.Pro663=) n.5181T>A | |
14 | g.91278073G>A | CA390612301 | CCDC88C | c.4907C>T (p.Pro1636Leu) c.479C>T (p.Pro160Leu) n.719C>T c.1135C>T c.4799C>T (p.Pro1600Leu) n.5182C>T c.1988C>T (p.Pro663Leu) n.5180C>T | |
14 | g.91278073G>C | CA390612303 | CCDC88C | c.4907C>G (p.Pro1636Arg) c.479C>G (p.Pro160Arg) n.719C>G c.1135C>G c.4799C>G (p.Pro1600Arg) n.5182C>G c.1988C>G (p.Pro663Arg) n.5180C>G | |
14 | g.91278073G>T | CA390612305 | CCDC88C | c.4907C>A (p.Pro1636His) c.479C>A (p.Pro160His) n.719C>A c.1135C>A c.4799C>A (p.Pro1600His) n.5182C>A c.1988C>A (p.Pro663His) n.5180C>A | gnomAD v4 |
14 | g.91278074G>A | CA390612307 | CCDC88C | c.4906C>T (p.Pro1636Ser) c.478C>T (p.Pro160Ser) n.718C>T c.1134C>T c.4798C>T (p.Pro1600Ser) n.5181C>T c.1987C>T (p.Pro663Ser) n.5179C>T | gnomAD v4 |
14 | g.91278074G>C | CA390612309 | CCDC88C | c.4906C>G (p.Pro1636Ala) c.478C>G (p.Pro160Ala) n.718C>G c.1134C>G c.4798C>G (p.Pro1600Ala) n.5181C>G c.1987C>G (p.Pro663Ala) n.5179C>G | |
14 | g.91278074G>T | CA390612311 | CCDC88C | c.4906C>A (p.Pro1636Thr) c.478C>A (p.Pro160Thr) n.718C>A c.1134C>A c.4798C>A (p.Pro1600Thr) n.5181C>A c.1987C>A (p.Pro663Thr) n.5179C>A | |
14 | g.91278075C>A | CA390612313 | CCDC88C | c.4905G>T (p.Leu1635Phe) c.477G>T (p.Leu159Phe) n.717G>T c.1133G>T c.4797G>T (p.Leu1599Phe) n.5180G>T c.1986G>T (p.Leu662Phe) n.5178G>T | |
14 | g.91278075C>G | CA390612314 | CCDC88C | c.4905G>C (p.Leu1635Phe) c.477G>C (p.Leu159Phe) n.717G>C c.1133G>C c.4797G>C (p.Leu1599Phe) n.5180G>C c.1986G>C (p.Leu662Phe) n.5178G>C | |
14 | g.91278075C>T | CA487540326 | CCDC88C | c.4905G>A (p.Leu1635=) c.477G>A (p.Leu159=) n.717G>A c.1133G>A c.4797G>A (p.Leu1599=) n.5180G>A c.1986G>A (p.Leu662=) n.5178G>A | |
14 | g.91278076A= | CA2154908884 | CCDC88C | c.4904T= (p.Leu1635=) c.476T= (p.Leu159=) n.716T= c.1132T= c.4796T= (p.Leu1599=) n.5179T= c.1985T= (p.Leu662=) n.5177T= | |
14 | g.91278076A>C | CA390612316 | CCDC88C | c.4904T>G (p.Leu1635Trp) c.476T>G (p.Leu159Trp) n.716T>G c.1132T>G c.4796T>G (p.Leu1599Trp) n.5179T>G c.1985T>G (p.Leu662Trp) n.5177T>G | dbSNP |
14 | g.91278076A>G | CA390612318 | CCDC88C | c.4904T>C (p.Leu1635Ser) c.476T>C (p.Leu159Ser) n.716T>C c.1132T>C c.4796T>C (p.Leu1599Ser) n.5179T>C c.1985T>C (p.Leu662Ser) n.5177T>C | |
14 | g.91278076A>T | CA390612319 | CCDC88C | c.4904T>A (p.Leu1635Ter) c.476T>A (p.Leu159Ter) n.716T>A c.1132T>A c.4796T>A (p.Leu1599Ter) n.5179T>A c.1985T>A (p.Leu662Ter) n.5177T>A | |
14 | g.91278077A>C | CA390612323 | CCDC88C | c.4903T>G (p.Leu1635Val) c.475T>G (p.Leu159Val) n.715T>G c.1131T>G c.4795T>G (p.Leu1599Val) n.5178T>G c.1984T>G (p.Leu662Val) n.5176T>G | |
14 | g.91278077A>G | CA487540328 | CCDC88C | c.4903T>C (p.Leu1635=) c.475T>C (p.Leu159=) n.715T>C c.1131T>C c.4795T>C (p.Leu1599=) n.5178T>C c.1984T>C (p.Leu662=) n.5176T>C | gnomAD v4 |
14 | g.91278077A>T | CA390612321 | CCDC88C | c.4903T>A (p.Leu1635Met) c.475T>A (p.Leu159Met) n.715T>A c.1131T>A c.4795T>A (p.Leu1599Met) n.5178T>A c.1984T>A (p.Leu662Met) n.5176T>A | |
14 | g.91278078G>A | CA487540329 | CCDC88C | c.4902C>T (p.Pro1634=) c.474C>T (p.Pro158=) n.714C>T c.1130C>T c.4794C>T (p.Pro1598=) n.5177C>T c.1983C>T (p.Pro661=) n.5175C>T | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91278078G>C | CA487540331 | CCDC88C | c.4902C>G (p.Pro1634=) c.474C>G (p.Pro158=) n.714C>G c.1130C>G c.4794C>G (p.Pro1598=) n.5177C>G c.1983C>G (p.Pro661=) n.5175C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278078G= | CA2154908885 | CCDC88C | c.4902C= (p.Pro1634=) c.474C= (p.Pro158=) n.714C= c.1130C= c.4794C= (p.Pro1598=) n.5177C= c.1983C= (p.Pro661=) n.5175C= | |
14 | g.91278078G>T | CA487540330 | CCDC88C | c.4902C>A (p.Pro1634=) c.474C>A (p.Pro158=) n.714C>A c.1130C>A c.4794C>A (p.Pro1598=) n.5177C>A c.1983C>A (p.Pro661=) n.5175C>A | |
14 | g.91278079G>A | CA390612325 | CCDC88C | c.4901C>T (p.Pro1634Leu) c.473C>T (p.Pro158Leu) n.713C>T c.1129C>T c.4793C>T (p.Pro1598Leu) n.5176C>T c.1982C>T (p.Pro661Leu) n.5174C>T | |
14 | g.91278079G>C | CA390612327 | CCDC88C | c.4901C>G (p.Pro1634Arg) c.473C>G (p.Pro158Arg) n.713C>G c.1129C>G c.4793C>G (p.Pro1598Arg) n.5176C>G c.1982C>G (p.Pro661Arg) n.5174C>G | |
14 | g.91278079G>T | CA390612329 | CCDC88C | c.4901C>A (p.Pro1634His) c.473C>A (p.Pro158His) n.713C>A c.1129C>A c.4793C>A (p.Pro1598His) n.5176C>A c.1982C>A (p.Pro661His) n.5174C>A | |
14 | g.91278080G>A | CA7308800 | CCDC88C | c.4900C>T (p.Pro1634Ser) c.472C>T (p.Pro158Ser) n.712C>T c.1128C>T c.4792C>T (p.Pro1598Ser) n.5175C>T c.1981C>T (p.Pro661Ser) n.5173C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278080G>C | CA390612332 | CCDC88C | c.4900C>G (p.Pro1634Ala) c.472C>G (p.Pro158Ala) n.712C>G c.1128C>G c.4792C>G (p.Pro1598Ala) n.5175C>G c.1981C>G (p.Pro661Ala) n.5173C>G | dbSNP |
14 | g.91278080G= | CA2154908886 | CCDC88C | c.4900C= (p.Pro1634=) c.472C= (p.Pro158=) n.712C= c.1128C= c.4792C= (p.Pro1598=) n.5175C= c.1981C= (p.Pro661=) n.5173C= | |
14 | g.91278080G>T | CA390612334 | CCDC88C | c.4900C>A (p.Pro1634Thr) c.472C>A (p.Pro158Thr) n.712C>A c.1128C>A c.4792C>A (p.Pro1598Thr) n.5175C>A c.1981C>A (p.Pro661Thr) n.5173C>A | |
14 | g.91278081G>A | CA487540332 | CCDC88C | c.4899C>T (p.Tyr1633=) c.471C>T (p.Tyr157=) n.711C>T c.1127C>T c.4791C>T (p.Tyr1597=) n.5174C>T c.1980C>T (p.Tyr660=) n.5172C>T | gnomAD v4 |
14 | g.91278081G>C | CA390612335 | CCDC88C | c.4899C>G (p.Tyr1633Ter) c.471C>G (p.Tyr157Ter) n.711C>G c.1127C>G c.4791C>G (p.Tyr1597Ter) n.5174C>G c.1980C>G (p.Tyr660Ter) n.5172C>G | |
14 | g.91278081G>T | CA390612337 | CCDC88C | c.4899C>A (p.Tyr1633Ter) c.471C>A (p.Tyr157Ter) n.711C>A c.1127C>A c.4791C>A (p.Tyr1597Ter) n.5174C>A c.1980C>A (p.Tyr660Ter) n.5172C>A | |
14 | g.91278082T>A | CA390612340 | CCDC88C | c.4898A>T (p.Tyr1633Phe) c.470A>T (p.Tyr157Phe) n.710A>T c.1126A>T c.4790A>T (p.Tyr1597Phe) n.5173A>T c.1979A>T (p.Tyr660Phe) n.5171A>T | |
14 | g.91278082T>C | CA390612341 | CCDC88C | c.4898A>G (p.Tyr1633Cys) c.470A>G (p.Tyr157Cys) n.710A>G c.1126A>G c.4790A>G (p.Tyr1597Cys) n.5173A>G c.1979A>G (p.Tyr660Cys) n.5171A>G | dbSNP |
14 | g.91278082T>G | CA390612343 | CCDC88C | c.4898A>C (p.Tyr1633Ser) c.470A>C (p.Tyr157Ser) n.710A>C c.1126A>C c.4790A>C (p.Tyr1597Ser) n.5173A>C c.1979A>C (p.Tyr660Ser) n.5171A>C | |
14 | g.91278083A= | CA2154908887 | CCDC88C | c.4897T= (p.Tyr1633=) c.469T= (p.Tyr157=) n.709T= c.1125T= c.4789T= (p.Tyr1597=) n.5172T= c.1978T= (p.Tyr660=) n.5170T= | |
14 | g.91278083A>C | CA390612345 | CCDC88C | c.4897T>G (p.Tyr1633Asp) c.469T>G (p.Tyr157Asp) n.709T>G c.1125T>G c.4789T>G (p.Tyr1597Asp) n.5172T>G c.1978T>G (p.Tyr660Asp) n.5170T>G | |
14 | g.91278083A>G | CA7308801 | CCDC88C | c.4897T>C (p.Tyr1633His) c.469T>C (p.Tyr157His) n.709T>C c.1125T>C c.4789T>C (p.Tyr1597His) n.5172T>C c.1978T>C (p.Tyr660His) n.5170T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278083A>T | CA390612348 | CCDC88C | c.4897T>A (p.Tyr1633Asn) c.469T>A (p.Tyr157Asn) n.709T>A c.1125T>A c.4789T>A (p.Tyr1597Asn) n.5172T>A c.1978T>A (p.Tyr660Asn) n.5170T>A | |
14 | g.91278084C>A | CA390612352 | CCDC88C | c.4896G>T (p.Glu1632Asp) c.468G>T (p.Glu156Asp) n.708G>T c.1124G>T c.4788G>T (p.Glu1596Asp) n.5171G>T c.1977G>T (p.Glu659Asp) n.5169G>T | |
14 | g.91278084C>G | CA390612350 | CCDC88C | c.4896G>C (p.Glu1632Asp) c.468G>C (p.Glu156Asp) n.708G>C c.1124G>C c.4788G>C (p.Glu1596Asp) n.5171G>C c.1977G>C (p.Glu659Asp) n.5169G>C | |
14 | g.91278084C>T | CA487540336 | CCDC88C | c.4896G>A (p.Glu1632=) c.468G>A (p.Glu156=) n.708G>A c.1124G>A c.4788G>A (p.Glu1596=) n.5171G>A c.1977G>A (p.Glu659=) n.5169G>A | |
14 | g.91278085T>A | CA390612355 | CCDC88C | c.4895A>T (p.Glu1632Val) c.467A>T (p.Glu156Val) n.707A>T c.1123A>T c.4787A>T (p.Glu1596Val) n.5170A>T c.1976A>T (p.Glu659Val) n.5168A>T | |
14 | g.91278085T>C | CA390612358 | CCDC88C | c.4895A>G (p.Glu1632Gly) c.467A>G (p.Glu156Gly) n.707A>G c.1123A>G c.4787A>G (p.Glu1596Gly) n.5170A>G c.1976A>G (p.Glu659Gly) n.5168A>G | COSMIC |
14 | g.91278085T>G | CA390612356 | CCDC88C | c.4895A>C (p.Glu1632Ala) c.467A>C (p.Glu156Ala) n.707A>C c.1123A>C c.4787A>C (p.Glu1596Ala) n.5170A>C c.1976A>C (p.Glu659Ala) n.5168A>C | |
14 | g.91278086C>A | CA390612361 | CCDC88C | c.4894G>T (p.Glu1632Ter) c.466G>T (p.Glu156Ter) n.706G>T c.1122G>T c.4786G>T (p.Glu1596Ter) n.5169G>T c.1975G>T (p.Glu659Ter) n.5167G>T | |
14 | g.91278086C= | CA2154908888 | CCDC88C | c.4894G= (p.Glu1632=) c.466G= (p.Glu156=) n.706G= c.1122G= c.4786G= (p.Glu1596=) n.5169G= c.1975G= (p.Glu659=) n.5167G= | |
14 | g.91278086C>G | CA390612363 | CCDC88C | c.4894G>C (p.Glu1632Gln) c.466G>C (p.Glu156Gln) n.706G>C c.1122G>C c.4786G>C (p.Glu1596Gln) n.5169G>C c.1975G>C (p.Glu659Gln) n.5167G>C | |
14 | g.91278086C>T | CA7308802 | CCDC88C | c.4894G>A (p.Glu1632Lys) c.466G>A (p.Glu156Lys) n.706G>A c.1122G>A c.4786G>A (p.Glu1596Lys) n.5169G>A c.1975G>A (p.Glu659Lys) n.5167G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278087G>A | CA7308803 | CCDC88C | c.4893C>T (p.His1631=) c.465C>T (p.His155=) n.705C>T c.1121C>T c.4785C>T (p.His1595=) n.5168C>T c.1974C>T (p.His658=) n.5166C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278087G>C | CA390612366 | CCDC88C | c.4893C>G (p.His1631Gln) c.465C>G (p.His155Gln) n.705C>G c.1121C>G c.4785C>G (p.His1595Gln) n.5168C>G c.1974C>G (p.His658Gln) n.5166C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278087G= | CA2154908889 | CCDC88C | c.4893C= (p.His1631=) c.465C= (p.His155=) n.705C= c.1121C= c.4785C= (p.His1595=) n.5168C= c.1974C= (p.His658=) n.5166C= | |
14 | g.91278087G>T | CA390612367 | CCDC88C | c.4893C>A (p.His1631Gln) c.465C>A (p.His155Gln) n.705C>A c.1121C>A c.4785C>A (p.His1595Gln) n.5168C>A c.1974C>A (p.His658Gln) n.5166C>A | |
14 | g.91278088T>A | CA390612370 | CCDC88C | c.4892A>T (p.His1631Leu) c.464A>T (p.His155Leu) n.704A>T c.1120A>T c.4784A>T (p.His1595Leu) n.5167A>T c.1973A>T (p.His658Leu) n.5165A>T | |
14 | g.91278088T>C | CA390612372 | CCDC88C | c.4892A>G (p.His1631Arg) c.464A>G (p.His155Arg) n.704A>G c.1120A>G c.4784A>G (p.His1595Arg) n.5167A>G c.1973A>G (p.His658Arg) n.5165A>G | |
14 | g.91278088T>G | CA390612374 | CCDC88C | c.4892A>C (p.His1631Pro) c.464A>C (p.His155Pro) n.704A>C c.1120A>C c.4784A>C (p.His1595Pro) n.5167A>C c.1973A>C (p.His658Pro) n.5165A>C | |
14 | g.91278089G>A | CA390612375 | CCDC88C | c.4891C>T (p.His1631Tyr) c.463C>T (p.His155Tyr) n.703C>T c.1119C>T c.4783C>T (p.His1595Tyr) n.5166C>T c.1972C>T (p.His658Tyr) n.5164C>T | |
14 | g.91278089G>C | CA390612376 | CCDC88C | c.4891C>G (p.His1631Asp) c.463C>G (p.His155Asp) n.703C>G c.1119C>G c.4783C>G (p.His1595Asp) n.5166C>G c.1972C>G (p.His658Asp) n.5164C>G | |
14 | g.91278089G>T | CA390612378 | CCDC88C | c.4891C>A (p.His1631Asn) c.463C>A (p.His155Asn) n.703C>A c.1119C>A c.4783C>A (p.His1595Asn) n.5166C>A c.1972C>A (p.His658Asn) n.5164C>A | |
14 | g.91278090G>A | CA487540338 | CCDC88C | c.4890C>T (p.Arg1630=) c.462C>T (p.Arg154=) n.702C>T c.1118C>T c.4782C>T (p.Arg1594=) n.5165C>T c.1971C>T (p.Arg657=) n.5163C>T | gnomAD v4 |
14 | g.91278090G>C | CA265523963 | CCDC88C | c.4890C>G (p.Arg1630=) c.462C>G (p.Arg154=) n.702C>G c.1118C>G c.4782C>G (p.Arg1594=) n.5165C>G c.1971C>G (p.Arg657=) n.5163C>G | dbSNP |
14 | g.91278090G= | CA2154908890 | CCDC88C | c.4890C= (p.Arg1630=) c.462C= (p.Arg154=) n.702C= c.1118C= c.4782C= (p.Arg1594=) n.5165C= c.1971C= (p.Arg657=) n.5163C= | |
14 | g.91278090G>T | CA487540339 | CCDC88C | c.4890C>A (p.Arg1630=) c.462C>A (p.Arg154=) n.702C>A c.1118C>A c.4782C>A (p.Arg1594=) n.5165C>A c.1971C>A (p.Arg657=) n.5163C>A | |
14 | g.91278091C>A | CA265523969 | CCDC88C | c.4889G>T (p.Arg1630Leu) c.461G>T (p.Arg154Leu) n.701G>T c.1117G>T c.4781G>T (p.Arg1594Leu) n.5164G>T c.1970G>T (p.Arg657Leu) n.5162G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278091C= | CA2154908891 | CCDC88C | c.4889G= (p.Arg1630=) c.461G= (p.Arg154=) n.701G= c.1117G= c.4781G= (p.Arg1594=) n.5164G= c.1970G= (p.Arg657=) n.5162G= | |
14 | g.91278091C>G | CA390612381 | CCDC88C | c.4889G>C (p.Arg1630Pro) c.461G>C (p.Arg154Pro) n.701G>C c.1117G>C c.4781G>C (p.Arg1594Pro) n.5164G>C c.1970G>C (p.Arg657Pro) n.5162G>C | |
14 | g.91278091C>T | CA7308804 | CCDC88C | c.4889G>A (p.Arg1630His) c.461G>A (p.Arg154His) n.701G>A c.1117G>A c.4781G>A (p.Arg1594His) n.5164G>A c.1970G>A (p.Arg657His) n.5162G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278092G>A | CA7308805 | CCDC88C | c.4888C>T (p.Arg1630Cys) c.460C>T (p.Arg154Cys) n.700C>T c.1116C>T c.4780C>T (p.Arg1594Cys) n.5163C>T c.1969C>T (p.Arg657Cys) n.5161C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91278092G>C | CA390612384 | CCDC88C | c.4888C>G (p.Arg1630Gly) c.460C>G (p.Arg154Gly) n.700C>G c.1116C>G c.4780C>G (p.Arg1594Gly) n.5163C>G c.1969C>G (p.Arg657Gly) n.5161C>G | dbSNP gnomAD v4 |
14 | g.91278092G= | CA2154908892 | CCDC88C | c.4888C= (p.Arg1630=) c.460C= (p.Arg154=) n.700C= c.1116C= c.4780C= (p.Arg1594=) n.5163C= c.1969C= (p.Arg657=) n.5161C= | |
14 | g.91278092G>T | CA390612386 | CCDC88C | c.4888C>A (p.Arg1630Ser) c.460C>A (p.Arg154Ser) n.700C>A c.1116C>A c.4780C>A (p.Arg1594Ser) n.5163C>A c.1969C>A (p.Arg657Ser) n.5161C>A | |
14 | g.91278093G>A | CA487540342 | CCDC88C | c.4887C>T (p.Gly1629=) c.459C>T (p.Gly153=) n.699C>T c.1115C>T c.4779C>T (p.Gly1593=) n.5162C>T c.1968C>T (p.Gly656=) n.5160C>T | gnomAD v4 |
14 | g.91278093G>C | CA487540340 | CCDC88C | c.4887C>G (p.Gly1629=) c.459C>G (p.Gly153=) n.699C>G c.1115C>G c.4779C>G (p.Gly1593=) n.5162C>G c.1968C>G (p.Gly656=) n.5160C>G | |
14 | g.91278093G>T | CA487540341 | CCDC88C | c.4887C>A (p.Gly1629=) c.459C>A (p.Gly153=) n.699C>A c.1115C>A c.4779C>A (p.Gly1593=) n.5162C>A c.1968C>A (p.Gly656=) n.5160C>A | |
14 | g.91278094C>A | CA390612389 | CCDC88C | c.4886G>T (p.Gly1629Val) c.458G>T (p.Gly153Val) n.698G>T c.1114G>T c.4778G>T (p.Gly1593Val) n.5161G>T c.1967G>T (p.Gly656Val) n.5159G>T | |
14 | g.91278094C= | CA2154908893 | CCDC88C | c.4886G= (p.Gly1629=) c.458G= (p.Gly153=) n.698G= c.1114G= c.4778G= (p.Gly1593=) n.5161G= c.1967G= (p.Gly656=) n.5159G= | |
14 | g.91278094C>G | CA390612390 | CCDC88C | c.4886G>C (p.Gly1629Ala) c.458G>C (p.Gly153Ala) n.698G>C c.1114G>C c.4778G>C (p.Gly1593Ala) n.5161G>C c.1967G>C (p.Gly656Ala) n.5159G>C | |
14 | g.91278094C>T | CA390612392 | CCDC88C | c.4886G>A (p.Gly1629Asp) c.458G>A (p.Gly153Asp) n.698G>A c.1114G>A c.4778G>A (p.Gly1593Asp) n.5161G>A c.1967G>A (p.Gly656Asp) n.5159G>A | dbSNP gnomAD v4 |
14 | g.91278095C>A | CA390612393 | CCDC88C | c.4885G>T (p.Gly1629Cys) c.457G>T (p.Gly153Cys) n.697G>T c.1113G>T c.4777G>T (p.Gly1593Cys) n.5160G>T c.1966G>T (p.Gly656Cys) n.5158G>T | |
14 | g.91278095C= | CA2154908894 | CCDC88C | c.4885G= (p.Gly1629=) c.457G= (p.Gly153=) n.697G= c.1113G= c.4777G= (p.Gly1593=) n.5160G= c.1966G= (p.Gly656=) n.5158G= | |
14 | g.91278095C>G | CA390612395 | CCDC88C | c.4885G>C (p.Gly1629Arg) c.457G>C (p.Gly153Arg) n.697G>C c.1113G>C c.4777G>C (p.Gly1593Arg) n.5160G>C c.1966G>C (p.Gly656Arg) n.5158G>C | |
14 | g.91278095C>T | CA390612397 | CCDC88C | c.4885G>A (p.Gly1629Ser) c.457G>A (p.Gly153Ser) n.697G>A c.1113G>A c.4777G>A (p.Gly1593Ser) n.5160G>A c.1966G>A (p.Gly656Ser) n.5158G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278096G>A | CA7308806 | CCDC88C | c.4884C>T (p.Leu1628=) c.456C>T (p.Leu152=) n.696C>T c.1112C>T c.4776C>T (p.Leu1592=) n.5159C>T c.1965C>T (p.Leu655=) n.5157C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.91278096G>C | CA487540344 | CCDC88C | c.4884C>G (p.Leu1628=) c.456C>G (p.Leu152=) n.696C>G c.1112C>G c.4776C>G (p.Leu1592=) n.5159C>G c.1965C>G (p.Leu655=) n.5157C>G | |
14 | g.91278096G= | CA2154908895 | CCDC88C | c.4884C= (p.Leu1628=) c.456C= (p.Leu152=) n.696C= c.1112C= c.4776C= (p.Leu1592=) n.5159C= c.1965C= (p.Leu655=) n.5157C= | |
14 | g.91278096G>T | CA487540345 | CCDC88C | c.4884C>A (p.Leu1628=) c.456C>A (p.Leu152=) n.696C>A c.1112C>A c.4776C>A (p.Leu1592=) n.5159C>A c.1965C>A (p.Leu655=) n.5157C>A | |
14 | g.91278097A>C | CA390612400 | CCDC88C | c.4883T>G (p.Leu1628Arg) c.455T>G (p.Leu152Arg) n.695T>G c.1111T>G c.4775T>G (p.Leu1592Arg) n.5158T>G c.1964T>G (p.Leu655Arg) n.5156T>G | |
14 | g.91278097A>G | CA390612402 | CCDC88C | c.4883T>C (p.Leu1628Pro) c.455T>C (p.Leu152Pro) n.695T>C c.1111T>C c.4775T>C (p.Leu1592Pro) n.5158T>C c.1964T>C (p.Leu655Pro) n.5156T>C | |
14 | g.91278097A>T | CA390612404 | CCDC88C | c.4883T>A (p.Leu1628His) c.455T>A (p.Leu152His) n.695T>A c.1111T>A c.4775T>A (p.Leu1592His) n.5158T>A c.1964T>A (p.Leu655His) n.5156T>A | |
14 | g.91278098G>A | CA390612410 | CCDC88C | c.4882C>T (p.Leu1628Phe) c.454C>T (p.Leu152Phe) n.694C>T c.1110C>T c.4774C>T (p.Leu1592Phe) n.5157C>T c.1963C>T (p.Leu655Phe) n.5155C>T | |
14 | g.91278098G>C | CA390612408 | CCDC88C | c.4882C>G (p.Leu1628Val) c.454C>G (p.Leu152Val) n.694C>G c.1110C>G c.4774C>G (p.Leu1592Val) n.5157C>G c.1963C>G (p.Leu655Val) n.5155C>G | |
14 | g.91278098G>T | CA390612407 | CCDC88C | c.4882C>A (p.Leu1628Ile) c.454C>A (p.Leu152Ile) n.694C>A c.1110C>A c.4774C>A (p.Leu1592Ile) n.5157C>A c.1963C>A (p.Leu655Ile) n.5155C>A | |
14 | g.91278100dup | CA2626124458 | CCDC88C | c.4882dup (p.Leu1628ProfsTer?) c.454dup (p.Leu152ProfsTer?) n.694dup c.1110dup c.4774dup (p.Leu1592ProfsTer?) n.5157dup c.1963dup (p.Leu655ProfsTer?) n.5155dup | gnomAD v4 |
14 | g.91278099G>A | CA487540348 | CCDC88C | c.4881C>T (p.Ala1627=) c.453C>T (p.Ala151=) n.693C>T c.1109C>T c.4773C>T (p.Ala1591=) n.5156C>T c.1962C>T (p.Ala654=) n.5154C>T | gnomAD v4 |
14 | g.91278099G>C | CA487540346 | CCDC88C | c.4881C>G (p.Ala1627=) c.453C>G (p.Ala151=) n.693C>G c.1109C>G c.4773C>G (p.Ala1591=) n.5156C>G c.1962C>G (p.Ala654=) n.5154C>G | gnomAD v4 |
14 | g.91278099G>T | CA487540347 | CCDC88C | c.4881C>A (p.Ala1627=) c.453C>A (p.Ala151=) n.693C>A c.1109C>A c.4773C>A (p.Ala1591=) n.5156C>A c.1962C>A (p.Ala654=) n.5154C>A | |
14 | g.91278100G>A | CA390612413 | CCDC88C | c.4880C>T (p.Ala1627Val) c.452C>T (p.Ala151Val) n.692C>T c.1108C>T c.4772C>T (p.Ala1591Val) n.5155C>T c.1961C>T (p.Ala654Val) n.5153C>T | gnomAD v4 |
14 | g.91278100G>C | CA390612414 | CCDC88C | c.4880C>G (p.Ala1627Gly) c.452C>G (p.Ala151Gly) n.692C>G c.1108C>G c.4772C>G (p.Ala1591Gly) n.5155C>G c.1961C>G (p.Ala654Gly) n.5153C>G | |
14 | g.91278100G>T | CA390612415 | CCDC88C | c.4880C>A (p.Ala1627Asp) c.452C>A (p.Ala151Asp) n.692C>A c.1108C>A c.4772C>A (p.Ala1591Asp) n.5155C>A c.1961C>A (p.Ala654Asp) n.5153C>A | |
14 | g.91278101C>A | CA390612417 | CCDC88C | c.4879G>T (p.Ala1627Ser) c.451G>T (p.Ala151Ser) n.691G>T c.1107G>T c.4771G>T (p.Ala1591Ser) n.5154G>T c.1960G>T (p.Ala654Ser) n.5152G>T | |
14 | g.91278101C= | CA2154908896 | CCDC88C | c.4879G= (p.Ala1627=) c.451G= (p.Ala151=) n.691G= c.1107G= c.4771G= (p.Ala1591=) n.5154G= c.1960G= (p.Ala654=) n.5152G= | |
14 | g.91278101C>G | CA390612419 | CCDC88C | c.4879G>C (p.Ala1627Pro) c.451G>C (p.Ala151Pro) n.691G>C c.1107G>C c.4771G>C (p.Ala1591Pro) n.5154G>C c.1960G>C (p.Ala654Pro) n.5152G>C | dbSNP gnomAD v2 |
14 | g.91278101C>T | CA390612421 | CCDC88C | c.4879G>A (p.Ala1627Thr) c.451G>A (p.Ala151Thr) n.691G>A c.1107G>A c.4771G>A (p.Ala1591Thr) n.5154G>A c.1960G>A (p.Ala654Thr) n.5152G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91278102G>A | CA487540349 | CCDC88C | c.4878C>T (p.Asn1626=) c.450C>T (p.Asn150=) n.690C>T c.1106C>T c.4770C>T (p.Asn1590=) n.5153C>T c.1959C>T (p.Asn653=) n.5151C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.91278102G>C | CA390612423 | CCDC88C | c.4878C>G (p.Asn1626Lys) c.450C>G (p.Asn150Lys) n.690C>G c.1106C>G c.4770C>G (p.Asn1590Lys) n.5153C>G c.1959C>G (p.Asn653Lys) n.5151C>G | |
14 | g.91278102G= | CA2154908897 | CCDC88C | c.4878C= (p.Asn1626=) c.450C= (p.Asn150=) n.690C= c.1106C= c.4770C= (p.Asn1590=) n.5153C= c.1959C= (p.Asn653=) n.5151C= | |
14 | g.91278102G>T | CA390612425 | CCDC88C | c.4878C>A (p.Asn1626Lys) c.450C>A (p.Asn150Lys) n.690C>A c.1106C>A c.4770C>A (p.Asn1590Lys) n.5153C>A c.1959C>A (p.Asn653Lys) n.5151C>A | |
14 | g.91278103T>A | CA390612426 | CCDC88C | c.4877A>T (p.Asn1626Ile) c.449A>T (p.Asn150Ile) n.689A>T c.1105A>T c.4769A>T (p.Asn1590Ile) n.5152A>T c.1958A>T (p.Asn653Ile) n.5150A>T | |
14 | g.91278103T>C | CA390612427 | CCDC88C | c.4877A>G (p.Asn1626Ser) c.449A>G (p.Asn150Ser) n.689A>G c.1105A>G c.4769A>G (p.Asn1590Ser) n.5152A>G c.1958A>G (p.Asn653Ser) n.5150A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91278103T>G | CA390612428 | CCDC88C | c.4877A>C (p.Asn1626Thr) c.449A>C (p.Asn150Thr) n.689A>C c.1105A>C c.4769A>C (p.Asn1590Thr) n.5152A>C c.1958A>C (p.Asn653Thr) n.5150A>C | |
14 | g.91278103T= | CA2154908898 | CCDC88C | c.4877A= (p.Asn1626=) c.449A= (p.Asn150=) n.689A= c.1105A= c.4769A= (p.Asn1590=) n.5152A= c.1958A= (p.Asn653=) n.5150A= | |
14 | g.91278104T>A | CA390612431 | CCDC88C | c.4876A>T (p.Asn1626Tyr) c.448A>T (p.Asn150Tyr) n.688A>T c.1104A>T c.4768A>T (p.Asn1590Tyr) n.5151A>T c.1957A>T (p.Asn653Tyr) n.5149A>T | |
14 | g.91278104T>C | CA390612430 | CCDC88C | c.4876A>G (p.Asn1626Asp) c.448A>G (p.Asn150Asp) n.688A>G c.1104A>G c.4768A>G (p.Asn1590Asp) n.5151A>G c.1957A>G (p.Asn653Asp) n.5149A>G | |
14 | g.91278104T>G | CA390612429 | CCDC88C | c.4876A>C (p.Asn1626His) c.448A>C (p.Asn150His) n.688A>C c.1104A>C c.4768A>C (p.Asn1590His) n.5151A>C c.1957A>C (p.Asn653His) n.5149A>C |