| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91273625A= | CA2154902784 | CCDC88C | c.5087T= (p.Leu1696=) c.659T= (p.Leu220=) n.899T= c.1315T= c.4979T= (p.Leu1660=) n.5362T= c.2168T= (p.Leu723=) n.5360T= | |
| 14 | g.91273625A>C | CA390610907 | CCDC88C | c.5087T>G (p.Leu1696Arg) c.659T>G (p.Leu220Arg) n.899T>G c.1315T>G c.4979T>G (p.Leu1660Arg) n.5362T>G c.2168T>G (p.Leu723Arg) n.5360T>G | |
| 14 | g.91273625A>G | CA7308736 | CCDC88C | c.5087T>C (p.Leu1696Pro) c.659T>C (p.Leu220Pro) n.899T>C c.1315T>C c.4979T>C (p.Leu1660Pro) n.5362T>C c.2168T>C (p.Leu723Pro) n.5360T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273625A>T | CA390610906 | CCDC88C | c.5087T>A (p.Leu1696Gln) c.659T>A (p.Leu220Gln) n.899T>A c.1315T>A c.4979T>A (p.Leu1660Gln) n.5362T>A c.2168T>A (p.Leu723Gln) n.5360T>A | |
| 14 | g.91273626G>A | CA7308737 | CCDC88C | c.5086C>T (p.Leu1696=) c.658C>T (p.Leu220=) n.898C>T c.1314C>T c.4978C>T (p.Leu1660=) n.5361C>T c.2167C>T (p.Leu723=) n.5359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273626G>C | CA390610908 | CCDC88C | c.5086C>G (p.Leu1696Val) c.658C>G (p.Leu220Val) n.898C>G c.1314C>G c.4978C>G (p.Leu1660Val) n.5361C>G c.2167C>G (p.Leu723Val) n.5359C>G | |
| 14 | g.91273626G= | CA2154902790 | CCDC88C | c.5086C= (p.Leu1696=) c.658C= (p.Leu220=) n.898C= c.1314C= c.4978C= (p.Leu1660=) n.5361C= c.2167C= (p.Leu723=) n.5359C= | |
| 14 | g.91273626G>T | CA390610909 | CCDC88C | c.5086C>A (p.Leu1696Met) c.658C>A (p.Leu220Met) n.898C>A c.1314C>A c.4978C>A (p.Leu1660Met) n.5361C>A c.2167C>A (p.Leu723Met) n.5359C>A | |
| 14 | g.91273627C>A | CA487829152 | CCDC88C | c.5085G>T (p.Leu1695=) c.657G>T (p.Leu219=) n.897G>T c.1313G>T c.4977G>T (p.Leu1659=) n.5360G>T c.2166G>T (p.Leu722=) n.5358G>T | gnomAD v4 |
| 14 | g.91273627C= | CA2154902798 | CCDC88C | c.5085G= (p.Leu1695=) c.657G= (p.Leu219=) n.897G= c.1313G= c.4977G= (p.Leu1659=) n.5360G= c.2166G= (p.Leu722=) n.5358G= | |
| 14 | g.91273627C>G | CA487829156 | CCDC88C | c.5085G>C (p.Leu1695=) c.657G>C (p.Leu219=) n.897G>C c.1313G>C c.4977G>C (p.Leu1659=) n.5360G>C c.2166G>C (p.Leu722=) n.5358G>C | |
| 14 | g.91273627C>T | CA487829154 | CCDC88C | c.5085G>A (p.Leu1695=) c.657G>A (p.Leu219=) n.897G>A c.1313G>A c.4977G>A (p.Leu1659=) n.5360G>A c.2166G>A (p.Leu722=) n.5358G>A | dbSNP gnomAD v4 |
| 14 | g.91273628A>C | CA390610910 | CCDC88C | c.5084T>G (p.Leu1695Arg) c.656T>G (p.Leu219Arg) n.896T>G c.1312T>G c.4976T>G (p.Leu1659Arg) n.5359T>G c.2165T>G (p.Leu722Arg) n.5357T>G | |
| 14 | g.91273628A>G | CA390610911 | CCDC88C | c.5084T>C (p.Leu1695Pro) c.656T>C (p.Leu219Pro) n.896T>C c.1312T>C c.4976T>C (p.Leu1659Pro) n.5359T>C c.2165T>C (p.Leu722Pro) n.5357T>C | gnomAD v4 |
| 14 | g.91273628A>T | CA390610912 | CCDC88C | c.5084T>A (p.Leu1695Gln) c.656T>A (p.Leu219Gln) n.896T>A c.1312T>A c.4976T>A (p.Leu1659Gln) n.5359T>A c.2165T>A (p.Leu722Gln) n.5357T>A | gnomAD v4 |
| 14 | g.91273629G>A | CA487829159 | CCDC88C | c.5083C>T (p.Leu1695=) c.655C>T (p.Leu219=) n.895C>T c.1311C>T c.4975C>T (p.Leu1659=) n.5358C>T c.2164C>T (p.Leu722=) n.5356C>T | |
| 14 | g.91273629G>C | CA390610913 | CCDC88C | c.5083C>G (p.Leu1695Val) c.655C>G (p.Leu219Val) n.895C>G c.1311C>G c.4975C>G (p.Leu1659Val) n.5358C>G c.2164C>G (p.Leu722Val) n.5356C>G | |
| 14 | g.91273629G>T | CA390610914 | CCDC88C | c.5083C>A (p.Leu1695Met) c.655C>A (p.Leu219Met) n.895C>A c.1311C>A c.4975C>A (p.Leu1659Met) n.5358C>A c.2164C>A (p.Leu722Met) n.5356C>A | |
| 14 | g.91273630G>A | CA487829164 | CCDC88C | c.5082C>T (p.Asp1694=) c.654C>T (p.Asp218=) n.894C>T c.1310C>T c.4974C>T (p.Asp1658=) n.5357C>T c.2163C>T (p.Asp721=) n.5355C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273630G>C | CA390610915 | CCDC88C | c.5082C>G (p.Asp1694Glu) c.654C>G (p.Asp218Glu) n.894C>G c.1310C>G c.4974C>G (p.Asp1658Glu) n.5357C>G c.2163C>G (p.Asp721Glu) n.5355C>G | gnomAD v4 |
| 14 | g.91273630G= | CA2154902812 | CCDC88C | c.5082C= (p.Asp1694=) c.654C= (p.Asp218=) n.894C= c.1310C= c.4974C= (p.Asp1658=) n.5357C= c.2163C= (p.Asp721=) n.5355C= | |
| 14 | g.91273630G>T | CA390610916 | CCDC88C | c.5082C>A (p.Asp1694Glu) c.654C>A (p.Asp218Glu) n.894C>A c.1310C>A c.4974C>A (p.Asp1658Glu) n.5357C>A c.2163C>A (p.Asp721Glu) n.5355C>A | |
| 14 | g.91273631T>A | CA390610919 | CCDC88C | c.5081A>T (p.Asp1694Val) c.653A>T (p.Asp218Val) n.893A>T c.1309A>T c.4973A>T (p.Asp1658Val) n.5356A>T c.2162A>T (p.Asp721Val) n.5354A>T | |
| 14 | g.91273631T>C | CA390610918 | CCDC88C | c.5081A>G (p.Asp1694Gly) c.653A>G (p.Asp218Gly) n.893A>G c.1309A>G c.4973A>G (p.Asp1658Gly) n.5356A>G c.2162A>G (p.Asp721Gly) n.5354A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273631T>G | CA390610917 | CCDC88C | c.5081A>C (p.Asp1694Ala) c.653A>C (p.Asp218Ala) n.893A>C c.1309A>C c.4973A>C (p.Asp1658Ala) n.5356A>C c.2162A>C (p.Asp721Ala) n.5354A>C | |
| 14 | g.91273631T= | CA2154902820 | CCDC88C | c.5081A= (p.Asp1694=) c.653A= (p.Asp218=) n.893A= c.1309A= c.4973A= (p.Asp1658=) n.5356A= c.2162A= (p.Asp721=) n.5354A= | |
| 14 | g.91273632C>A | CA390610920 | CCDC88C | c.5080G>T (p.Asp1694Tyr) c.652G>T (p.Asp218Tyr) n.892G>T c.1308G>T c.4972G>T (p.Asp1658Tyr) n.5355G>T c.2161G>T (p.Asp721Tyr) n.5353G>T | dbSNP |
| 14 | g.91273632C= | CA2154902828 | CCDC88C | c.5080G= (p.Asp1694=) c.652G= (p.Asp218=) n.892G= c.1308G= c.4972G= (p.Asp1658=) n.5355G= c.2161G= (p.Asp721=) n.5353G= | |
| 14 | g.91273632C>G | CA390610921 | CCDC88C | c.5080G>C (p.Asp1694His) c.652G>C (p.Asp218His) n.892G>C c.1308G>C c.4972G>C (p.Asp1658His) n.5355G>C c.2161G>C (p.Asp721His) n.5353G>C | |
| 14 | g.91273632C>T | CA7308738 | CCDC88C | c.5080G>A (p.Asp1694Asn) c.652G>A (p.Asp218Asn) n.892G>A c.1308G>A c.4972G>A (p.Asp1658Asn) n.5355G>A c.2161G>A (p.Asp721Asn) n.5353G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273633A>C | CA390610922 | CCDC88C | c.5079T>G (p.Asp1693Glu) c.651T>G (p.Asp217Glu) n.891T>G c.1307T>G c.4971T>G (p.Asp1657Glu) n.5354T>G c.2160T>G (p.Asp720Glu) n.5352T>G | |
| 14 | g.91273633A>G | CA487829168 | CCDC88C | c.5079T>C (p.Asp1693=) c.651T>C (p.Asp217=) n.891T>C c.1307T>C c.4971T>C (p.Asp1657=) n.5354T>C c.2160T>C (p.Asp720=) n.5352T>C | gnomAD v4 |
| 14 | g.91273633A>T | CA390610923 | CCDC88C | c.5079T>A (p.Asp1693Glu) c.651T>A (p.Asp217Glu) n.891T>A c.1307T>A c.4971T>A (p.Asp1657Glu) n.5354T>A c.2160T>A (p.Asp720Glu) n.5352T>A | |
| 14 | g.91273634T>A | CA7308739 | CCDC88C | c.5078A>T (p.Asp1693Val) c.650A>T (p.Asp217Val) n.890A>T c.1306A>T c.4970A>T (p.Asp1657Val) n.5353A>T c.2159A>T (p.Asp720Val) n.5351A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273634T>C | CA390610924 | CCDC88C | c.5078A>G (p.Asp1693Gly) c.650A>G (p.Asp217Gly) n.890A>G c.1306A>G c.4970A>G (p.Asp1657Gly) n.5353A>G c.2159A>G (p.Asp720Gly) n.5351A>G | |
| 14 | g.91273634T>G | CA390610925 | CCDC88C | c.5078A>C (p.Asp1693Ala) c.650A>C (p.Asp217Ala) n.890A>C c.1306A>C c.4970A>C (p.Asp1657Ala) n.5353A>C c.2159A>C (p.Asp720Ala) n.5351A>C | |
| 14 | g.91273634T= | CA2154902835 | CCDC88C | c.5078A= (p.Asp1693=) c.650A= (p.Asp217=) n.890A= c.1306A= c.4970A= (p.Asp1657=) n.5353A= c.2159A= (p.Asp720=) n.5351A= | |
| 14 | g.91273635C>A | CA390610926 | CCDC88C | c.5077G>T (p.Asp1693Tyr) c.649G>T (p.Asp217Tyr) n.889G>T c.1305G>T c.4969G>T (p.Asp1657Tyr) n.5352G>T c.2158G>T (p.Asp720Tyr) n.5350G>T | gnomAD v4 |
| 14 | g.91273635C>G | CA390610927 | CCDC88C | c.5077G>C (p.Asp1693His) c.649G>C (p.Asp217His) n.889G>C c.1305G>C c.4969G>C (p.Asp1657His) n.5352G>C c.2158G>C (p.Asp720His) n.5350G>C | |
| 14 | g.91273635C>T | CA390610928 | CCDC88C | c.5077G>A (p.Asp1693Asn) c.649G>A (p.Asp217Asn) n.889G>A c.1305G>A c.4969G>A (p.Asp1657Asn) n.5352G>A c.2158G>A (p.Asp720Asn) n.5350G>A | gnomAD v4 |
| 14 | g.91273636C>A | CA487829172 | CCDC88C | c.5076G>T (p.Arg1692=) c.648G>T (p.Arg216=) n.888G>T c.1304G>T c.4968G>T (p.Arg1656=) n.5351G>T c.2157G>T (p.Arg719=) n.5349G>T | |
| 14 | g.91273636C= | CA2154902844 | CCDC88C | c.5076G= (p.Arg1692=) c.648G= (p.Arg216=) n.888G= c.1304G= c.4968G= (p.Arg1656=) n.5351G= c.2157G= (p.Arg719=) n.5349G= | |
| 14 | g.91273636C>G | CA487829174 | CCDC88C | c.5076G>C (p.Arg1692=) c.648G>C (p.Arg216=) n.888G>C c.1304G>C c.4968G>C (p.Arg1656=) n.5351G>C c.2157G>C (p.Arg719=) n.5349G>C | |
| 14 | g.91273636C>T | CA7308740 | CCDC88C | c.5076G>A (p.Arg1692=) c.648G>A (p.Arg216=) n.888G>A c.1304G>A c.4968G>A (p.Arg1656=) n.5351G>A c.2157G>A (p.Arg719=) n.5349G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273637C>A | CA390610930 | CCDC88C | c.5075G>T (p.Arg1692Leu) c.647G>T (p.Arg216Leu) n.887G>T c.1303G>T c.4967G>T (p.Arg1656Leu) n.5350G>T c.2156G>T (p.Arg719Leu) n.5348G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273637C= | CA2154902848 | CCDC88C | c.5075G= (p.Arg1692=) c.647G= (p.Arg216=) n.887G= c.1303G= c.4967G= (p.Arg1656=) n.5350G= c.2156G= (p.Arg719=) n.5348G= | |
| 14 | g.91273637C>G | CA390610929 | CCDC88C | c.5075G>C (p.Arg1692Pro) c.647G>C (p.Arg216Pro) n.887G>C c.1303G>C c.4967G>C (p.Arg1656Pro) n.5350G>C c.2156G>C (p.Arg719Pro) n.5348G>C | |
| 14 | g.91273637C>T | CA7308741 | CCDC88C | c.5075G>A (p.Arg1692Gln) c.647G>A (p.Arg216Gln) n.887G>A c.1303G>A c.4967G>A (p.Arg1656Gln) n.5350G>A c.2156G>A (p.Arg719Gln) n.5348G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273638G>A | CA7308742 | CCDC88C | c.5074C>T (p.Arg1692Trp) c.646C>T (p.Arg216Trp) n.886C>T c.1302C>T c.4966C>T (p.Arg1656Trp) n.5349C>T c.2155C>T (p.Arg719Trp) n.5347C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273638G>C | CA390610931 | CCDC88C | c.5074C>G (p.Arg1692Gly) c.646C>G (p.Arg216Gly) n.886C>G c.1302C>G c.4966C>G (p.Arg1656Gly) n.5349C>G c.2155C>G (p.Arg719Gly) n.5347C>G |