| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43042957G>A | CA201459 | CUL7,KLC4 | n.1561C>T c.3490C>T (p.Arg1164Trp) c.*146C>T (n.*146C>T) n.4051C>T c.*1787C>T (n.*1787C>T) n.3773C>T n.4067C>T c.1412-51C>T n.4329C>T c.3586C>T (p.Arg1196Trp) c.1982C>T c.-1003-101G>A (n.-1003-101G>A) c.3742C>T (p.Arg1248Trp) c.3646C>T (p.Arg1216Trp) c.1351C>T (p.Arg451Trp) c.3769C>T (p.Arg1257Trp) c.3673C>T (p.Arg1225Trp) c.3613C>T (p.Arg1205Trp) c.3517C>T (p.Arg1173Trp) c.3487C>T (p.Arg1163Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.43042957G>C | CA364203071 | CUL7,KLC4 | n.1561C>G c.3490C>G (p.Arg1164Gly) c.*146C>G (n.*146C>G) n.4051C>G c.*1787C>G (n.*1787C>G) n.3773C>G n.4067C>G c.1412-51C>G n.4329C>G c.3586C>G (p.Arg1196Gly) c.1982C>G c.-1003-101G>C (n.-1003-101G>C) c.3742C>G (p.Arg1248Gly) c.3646C>G (p.Arg1216Gly) c.1351C>G (p.Arg451Gly) c.3769C>G (p.Arg1257Gly) c.3673C>G (p.Arg1225Gly) c.3613C>G (p.Arg1205Gly) c.3517C>G (p.Arg1173Gly) c.3487C>G (p.Arg1163Gly) | |
| 6 | g.43042957G= | CA1624354896 | CUL7,KLC4 | n.1561C= c.3490C= (p.Arg1164=) c.*146C= (n.*146C=) n.4051C= c.*1787C= (n.*1787C=) n.3773C= n.4067C= c.1412-51C= n.4329C= c.3586C= (p.Arg1196=) c.1982C= c.-1003-101G= (n.-1003-101G=) c.3742C= (p.Arg1248=) c.3646C= (p.Arg1216=) c.1351C= (p.Arg451=) c.3769C= (p.Arg1257=) c.3673C= (p.Arg1225=) c.3613C= (p.Arg1205=) c.3517C= (p.Arg1173=) c.3487C= (p.Arg1163=) | |
| 6 | g.43042957G>T | CA450369674 | CUL7,KLC4 | n.1561C>A c.3490C>A (p.Arg1164=) c.*146C>A (n.*146C>A) n.4051C>A c.*1787C>A (n.*1787C>A) n.3773C>A n.4067C>A c.1412-51C>A n.4329C>A c.3586C>A (p.Arg1196=) c.1982C>A c.-1003-101G>T (n.-1003-101G>T) c.3742C>A (p.Arg1248=) c.3646C>A (p.Arg1216=) c.1351C>A (p.Arg451=) c.3769C>A (p.Arg1257=) c.3673C>A (p.Arg1225=) c.3613C>A (p.Arg1205=) c.3517C>A (p.Arg1173=) c.3487C>A (p.Arg1163=) | |
| 6 | g.43042958C>A | CA364203073 | CUL7,KLC4 | n.1560G>T c.3489G>T (p.Trp1163Cys) c.*145G>T (n.*145G>T) n.4050G>T c.*1786G>T (n.*1786G>T) n.3772G>T n.4066G>T c.1412-52G>T n.4328G>T c.3585G>T (p.Trp1195Cys) c.1981G>T c.-1003-100C>A (n.-1003-100C>A) c.3741G>T (p.Trp1247Cys) c.3645G>T (p.Trp1215Cys) c.1350G>T (p.Trp450Cys) c.3768G>T (p.Trp1256Cys) c.3672G>T (p.Trp1224Cys) c.3612G>T (p.Trp1204Cys) c.3516G>T (p.Trp1172Cys) c.3486G>T (p.Trp1162Cys) | |
| 6 | g.43042958C= | CA1624354897 | CUL7,KLC4 | n.1560G= c.3489G= (p.Trp1163=) c.*145G= (n.*145G=) n.4050G= c.*1786G= (n.*1786G=) n.3772G= n.4066G= c.1412-52G= n.4328G= c.3585G= (p.Trp1195=) c.1981G= c.-1003-100C= (n.-1003-100C=) c.3741G= (p.Trp1247=) c.3645G= (p.Trp1215=) c.1350G= (p.Trp450=) c.3768G= (p.Trp1256=) c.3672G= (p.Trp1224=) c.3612G= (p.Trp1204=) c.3516G= (p.Trp1172=) c.3486G= (p.Trp1162=) | |
| 6 | g.43042958C>G | CA364203074 | CUL7,KLC4 | n.1560G>C c.3489G>C (p.Trp1163Cys) c.*145G>C (n.*145G>C) n.4050G>C c.*1786G>C (n.*1786G>C) n.3772G>C n.4066G>C c.1412-52G>C n.4328G>C c.3585G>C (p.Trp1195Cys) c.1981G>C c.-1003-100C>G (n.-1003-100C>G) c.3741G>C (p.Trp1247Cys) c.3645G>C (p.Trp1215Cys) c.1350G>C (p.Trp450Cys) c.3768G>C (p.Trp1256Cys) c.3672G>C (p.Trp1224Cys) c.3612G>C (p.Trp1204Cys) c.3516G>C (p.Trp1172Cys) c.3486G>C (p.Trp1162Cys) | |
| 6 | g.43042958C>T | CA364203075 | CUL7,KLC4 | n.1560G>A c.3489G>A (p.Trp1163Ter) c.*145G>A (n.*145G>A) n.4050G>A c.*1786G>A (n.*1786G>A) n.3772G>A n.4066G>A c.1412-52G>A n.4328G>A c.3585G>A (p.Trp1195Ter) c.1981G>A c.-1003-100C>T (n.-1003-100C>T) c.3741G>A (p.Trp1247Ter) c.3645G>A (p.Trp1215Ter) c.1350G>A (p.Trp450Ter) c.3768G>A (p.Trp1256Ter) c.3672G>A (p.Trp1224Ter) c.3612G>A (p.Trp1204Ter) c.3516G>A (p.Trp1172Ter) c.3486G>A (p.Trp1162Ter) | dbSNP |
| 6 | g.43042959C>A | CA364203077 | CUL7,KLC4 | n.1559G>T c.3488G>T (p.Trp1163Leu) c.*144G>T (n.*144G>T) n.4049G>T c.*1785G>T (n.*1785G>T) n.3771G>T n.4065G>T c.1412-53G>T n.4327G>T c.3584G>T (p.Trp1195Leu) c.1980G>T c.-1003-99C>A (n.-1003-99C>A) c.3740G>T (p.Trp1247Leu) c.3644G>T (p.Trp1215Leu) c.1349G>T (p.Trp450Leu) c.3767G>T (p.Trp1256Leu) c.3671G>T (p.Trp1224Leu) c.3611G>T (p.Trp1204Leu) c.3515G>T (p.Trp1172Leu) c.3485G>T (p.Trp1162Leu) | |
| 6 | g.43042959C>G | CA364203079 | CUL7,KLC4 | n.1559G>C c.3488G>C (p.Trp1163Ser) c.*144G>C (n.*144G>C) n.4049G>C c.*1785G>C (n.*1785G>C) n.3771G>C n.4065G>C c.1412-53G>C n.4327G>C c.3584G>C (p.Trp1195Ser) c.1980G>C c.-1003-99C>G (n.-1003-99C>G) c.3740G>C (p.Trp1247Ser) c.3644G>C (p.Trp1215Ser) c.1349G>C (p.Trp450Ser) c.3767G>C (p.Trp1256Ser) c.3671G>C (p.Trp1224Ser) c.3611G>C (p.Trp1204Ser) c.3515G>C (p.Trp1172Ser) c.3485G>C (p.Trp1162Ser) | |
| 6 | g.43042959C>T | CA364203081 | CUL7,KLC4 | n.1559G>A c.3488G>A (p.Trp1163Ter) c.*144G>A (n.*144G>A) n.4049G>A c.*1785G>A (n.*1785G>A) n.3771G>A n.4065G>A c.1412-53G>A n.4327G>A c.3584G>A (p.Trp1195Ter) c.1980G>A c.-1003-99C>T (n.-1003-99C>T) c.3740G>A (p.Trp1247Ter) c.3644G>A (p.Trp1215Ter) c.1349G>A (p.Trp450Ter) c.3767G>A (p.Trp1256Ter) c.3671G>A (p.Trp1224Ter) c.3611G>A (p.Trp1204Ter) c.3515G>A (p.Trp1172Ter) c.3485G>A (p.Trp1162Ter) | |
| 6 | g.43042960A>C | CA364203082 | CUL7,KLC4 | n.1558T>G c.3487T>G (p.Trp1163Gly) c.*143T>G (n.*143T>G) n.4048T>G c.*1784T>G (n.*1784T>G) n.3770T>G n.4064T>G c.1412-54T>G n.4326T>G c.3583T>G (p.Trp1195Gly) c.1979T>G c.-1003-98A>C (n.-1003-98A>C) c.3739T>G (p.Trp1247Gly) c.3643T>G (p.Trp1215Gly) c.1348T>G (p.Trp450Gly) c.3766T>G (p.Trp1256Gly) c.3670T>G (p.Trp1224Gly) c.3610T>G (p.Trp1204Gly) c.3514T>G (p.Trp1172Gly) c.3484T>G (p.Trp1162Gly) | |
| 6 | g.43042960A>G | CA364203083 | CUL7,KLC4 | n.1558T>C c.3487T>C (p.Trp1163Arg) c.*143T>C (n.*143T>C) n.4048T>C c.*1784T>C (n.*1784T>C) n.3770T>C n.4064T>C c.1412-54T>C n.4326T>C c.3583T>C (p.Trp1195Arg) c.1979T>C c.-1003-98A>G (n.-1003-98A>G) c.3739T>C (p.Trp1247Arg) c.3643T>C (p.Trp1215Arg) c.1348T>C (p.Trp450Arg) c.3766T>C (p.Trp1256Arg) c.3670T>C (p.Trp1224Arg) c.3610T>C (p.Trp1204Arg) c.3514T>C (p.Trp1172Arg) c.3484T>C (p.Trp1162Arg) | gnomAD v4 |
| 6 | g.43042960A>T | CA364203084 | CUL7,KLC4 | n.1558T>A c.3487T>A (p.Trp1163Arg) c.*143T>A (n.*143T>A) n.4048T>A c.*1784T>A (n.*1784T>A) n.3770T>A n.4064T>A c.1412-54T>A n.4326T>A c.3583T>A (p.Trp1195Arg) c.1979T>A c.-1003-98A>T (n.-1003-98A>T) c.3739T>A (p.Trp1247Arg) c.3643T>A (p.Trp1215Arg) c.1348T>A (p.Trp450Arg) c.3766T>A (p.Trp1256Arg) c.3670T>A (p.Trp1224Arg) c.3610T>A (p.Trp1204Arg) c.3514T>A (p.Trp1172Arg) c.3484T>A (p.Trp1162Arg) | |
| 6 | g.43042961G>A | CA450369675 | CUL7,KLC4 | n.1557C>T c.3486C>T (p.Ser1162=) c.*142C>T (n.*142C>T) n.4047C>T c.*1783C>T (n.*1783C>T) n.3769C>T n.4063C>T c.1412-55C>T n.4325C>T c.3582C>T (p.Ser1194=) c.1978C>T c.-1003-97G>A (n.-1003-97G>A) c.3738C>T (p.Ser1246=) c.3642C>T (p.Ser1214=) c.1347C>T (p.Ser449=) c.3765C>T (p.Ser1255=) c.3669C>T (p.Ser1223=) c.3609C>T (p.Ser1203=) c.3513C>T (p.Ser1171=) c.3483C>T (p.Ser1161=) | COSMIC COSMIC |
| 6 | g.43042961G>C | CA450369676 | CUL7,KLC4 | n.1557C>G c.3486C>G (p.Ser1162=) c.*142C>G (n.*142C>G) n.4047C>G c.*1783C>G (n.*1783C>G) n.3769C>G n.4063C>G c.1412-55C>G n.4325C>G c.3582C>G (p.Ser1194=) c.1978C>G c.-1003-97G>C (n.-1003-97G>C) c.3738C>G (p.Ser1246=) c.3642C>G (p.Ser1214=) c.1347C>G (p.Ser449=) c.3765C>G (p.Ser1255=) c.3669C>G (p.Ser1223=) c.3609C>G (p.Ser1203=) c.3513C>G (p.Ser1171=) c.3483C>G (p.Ser1161=) | |
| 6 | g.43042961G>T | CA450369677 | CUL7,KLC4 | n.1557C>A c.3486C>A (p.Ser1162=) c.*142C>A (n.*142C>A) n.4047C>A c.*1783C>A (n.*1783C>A) n.3769C>A n.4063C>A c.1412-55C>A n.4325C>A c.3582C>A (p.Ser1194=) c.1978C>A c.-1003-97G>T (n.-1003-97G>T) c.3738C>A (p.Ser1246=) c.3642C>A (p.Ser1214=) c.1347C>A (p.Ser449=) c.3765C>A (p.Ser1255=) c.3669C>A (p.Ser1223=) c.3609C>A (p.Ser1203=) c.3513C>A (p.Ser1171=) c.3483C>A (p.Ser1161=) | |
| 6 | g.43042962G>A | CA364203085 | CUL7,KLC4 | n.1556C>T c.3485C>T (p.Ser1162Phe) c.*141C>T (n.*141C>T) n.4046C>T c.*1782C>T (n.*1782C>T) n.3768C>T n.4062C>T c.1412-56C>T n.4324C>T c.3581C>T (p.Ser1194Phe) c.1977C>T c.-1003-96G>A (n.-1003-96G>A) c.3737C>T (p.Ser1246Phe) c.3641C>T (p.Ser1214Phe) c.1346C>T (p.Ser449Phe) c.3764C>T (p.Ser1255Phe) c.3668C>T (p.Ser1223Phe) c.3608C>T (p.Ser1203Phe) c.3512C>T (p.Ser1171Phe) c.3482C>T (p.Ser1161Phe) | dbSNP |
| 6 | g.43042962G>C | CA364203087 | CUL7,KLC4 | n.1556C>G c.3485C>G (p.Ser1162Cys) c.*141C>G (n.*141C>G) n.4046C>G c.*1782C>G (n.*1782C>G) n.3768C>G n.4062C>G c.1412-56C>G n.4324C>G c.3581C>G (p.Ser1194Cys) c.1977C>G c.-1003-96G>C (n.-1003-96G>C) c.3737C>G (p.Ser1246Cys) c.3641C>G (p.Ser1214Cys) c.1346C>G (p.Ser449Cys) c.3764C>G (p.Ser1255Cys) c.3668C>G (p.Ser1223Cys) c.3608C>G (p.Ser1203Cys) c.3512C>G (p.Ser1171Cys) c.3482C>G (p.Ser1161Cys) | |
| 6 | g.43042962G= | CA1624354898 | CUL7,KLC4 | n.1556C= c.3485C= (p.Ser1162=) c.*141C= (n.*141C=) n.4046C= c.*1782C= (n.*1782C=) n.3768C= n.4062C= c.1412-56C= n.4324C= c.3581C= (p.Ser1194=) c.1977C= c.-1003-96G= (n.-1003-96G=) c.3737C= (p.Ser1246=) c.3641C= (p.Ser1214=) c.1346C= (p.Ser449=) c.3764C= (p.Ser1255=) c.3668C= (p.Ser1223=) c.3608C= (p.Ser1203=) c.3512C= (p.Ser1171=) c.3482C= (p.Ser1161=) | |
| 6 | g.43042962G>T | CA364203089 | CUL7,KLC4 | n.1556C>A c.3485C>A (p.Ser1162Tyr) c.*141C>A (n.*141C>A) n.4046C>A c.*1782C>A (n.*1782C>A) n.3768C>A n.4062C>A c.1412-56C>A n.4324C>A c.3581C>A (p.Ser1194Tyr) c.1977C>A c.-1003-96G>T (n.-1003-96G>T) c.3737C>A (p.Ser1246Tyr) c.3641C>A (p.Ser1214Tyr) c.1346C>A (p.Ser449Tyr) c.3764C>A (p.Ser1255Tyr) c.3668C>A (p.Ser1223Tyr) c.3608C>A (p.Ser1203Tyr) c.3512C>A (p.Ser1171Tyr) c.3482C>A (p.Ser1161Tyr) | |
| 6 | g.43042963A>C | CA364203091 | CUL7,KLC4 | n.1555T>G c.3484T>G (p.Ser1162Ala) c.*140T>G (n.*140T>G) n.4045T>G c.*1781T>G (n.*1781T>G) n.3767T>G n.4061T>G c.1412-57T>G n.4323T>G c.3580T>G (p.Ser1194Ala) c.1976T>G c.-1003-95A>C (n.-1003-95A>C) c.3736T>G (p.Ser1246Ala) c.3640T>G (p.Ser1214Ala) c.1345T>G (p.Ser449Ala) c.3763T>G (p.Ser1255Ala) c.3667T>G (p.Ser1223Ala) c.3607T>G (p.Ser1203Ala) c.3511T>G (p.Ser1171Ala) c.3481T>G (p.Ser1161Ala) | |
| 6 | g.43042963A>G | CA364203094 | CUL7,KLC4 | n.1555T>C c.3484T>C (p.Ser1162Pro) c.*140T>C (n.*140T>C) n.4045T>C c.*1781T>C (n.*1781T>C) n.3767T>C n.4061T>C c.1412-57T>C n.4323T>C c.3580T>C (p.Ser1194Pro) c.1976T>C c.-1003-95A>G (n.-1003-95A>G) c.3736T>C (p.Ser1246Pro) c.3640T>C (p.Ser1214Pro) c.1345T>C (p.Ser449Pro) c.3763T>C (p.Ser1255Pro) c.3667T>C (p.Ser1223Pro) c.3607T>C (p.Ser1203Pro) c.3511T>C (p.Ser1171Pro) c.3481T>C (p.Ser1161Pro) | |
| 6 | g.43042963A>T | CA364203093 | CUL7,KLC4 | n.1555T>A c.3484T>A (p.Ser1162Thr) c.*140T>A (n.*140T>A) n.4045T>A c.*1781T>A (n.*1781T>A) n.3767T>A n.4061T>A c.1412-57T>A n.4323T>A c.3580T>A (p.Ser1194Thr) c.1976T>A c.-1003-95A>T (n.-1003-95A>T) c.3736T>A (p.Ser1246Thr) c.3640T>A (p.Ser1214Thr) c.1345T>A (p.Ser449Thr) c.3763T>A (p.Ser1255Thr) c.3667T>A (p.Ser1223Thr) c.3607T>A (p.Ser1203Thr) c.3511T>A (p.Ser1171Thr) c.3481T>A (p.Ser1161Thr) | |
| 6 | g.43042964T>A | CA450369678 | CUL7,KLC4 | n.1554A>T c.3483A>T (p.Ser1161=) c.*139A>T (n.*139A>T) n.4044A>T c.*1780A>T (n.*1780A>T) n.3766A>T n.4060A>T c.1412-58A>T n.4322A>T c.3579A>T (p.Ser1193=) c.1975A>T c.-1003-94T>A (n.-1003-94T>A) c.3735A>T (p.Ser1245=) c.3639A>T (p.Ser1213=) c.1344A>T (p.Ser448=) c.3762A>T (p.Ser1254=) c.3666A>T (p.Ser1222=) c.3606A>T (p.Ser1202=) c.3510A>T (p.Ser1170=) c.3480A>T (p.Ser1160=) | |
| 6 | g.43042964T>C | CA450369679 | CUL7,KLC4 | n.1554A>G c.3483A>G (p.Ser1161=) c.*139A>G (n.*139A>G) n.4044A>G c.*1780A>G (n.*1780A>G) n.3766A>G n.4060A>G c.1412-58A>G n.4322A>G c.3579A>G (p.Ser1193=) c.1975A>G c.-1003-94T>C (n.-1003-94T>C) c.3735A>G (p.Ser1245=) c.3639A>G (p.Ser1213=) c.1344A>G (p.Ser448=) c.3762A>G (p.Ser1254=) c.3666A>G (p.Ser1222=) c.3606A>G (p.Ser1202=) c.3510A>G (p.Ser1170=) c.3480A>G (p.Ser1160=) | |
| 6 | g.43042964T>G | CA450369680 | CUL7,KLC4 | n.1554A>C c.3483A>C (p.Ser1161=) c.*139A>C (n.*139A>C) n.4044A>C c.*1780A>C (n.*1780A>C) n.3766A>C n.4060A>C c.1412-58A>C n.4322A>C c.3579A>C (p.Ser1193=) c.1975A>C c.-1003-94T>G (n.-1003-94T>G) c.3735A>C (p.Ser1245=) c.3639A>C (p.Ser1213=) c.1344A>C (p.Ser448=) c.3762A>C (p.Ser1254=) c.3666A>C (p.Ser1222=) c.3606A>C (p.Ser1202=) c.3510A>C (p.Ser1170=) c.3480A>C (p.Ser1160=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.43042964T= | CA1624354899 | CUL7,KLC4 | n.1554A= c.3483A= (p.Ser1161=) c.*139A= (n.*139A=) n.4044A= c.*1780A= (n.*1780A=) n.3766A= n.4060A= c.1412-58A= n.4322A= c.3579A= (p.Ser1193=) c.1975A= c.-1003-94T= (n.-1003-94T=) c.3735A= (p.Ser1245=) c.3639A= (p.Ser1213=) c.1344A= (p.Ser448=) c.3762A= (p.Ser1254=) c.3666A= (p.Ser1222=) c.3606A= (p.Ser1202=) c.3510A= (p.Ser1170=) c.3480A= (p.Ser1160=) | |
| 6 | g.43042965G>A | CA3813461 | CUL7,KLC4 | n.1553C>T c.3482C>T (p.Ser1161Leu) c.*138C>T (n.*138C>T) n.4043C>T c.*1779C>T (n.*1779C>T) n.3765C>T n.4059C>T c.1412-59C>T n.4321C>T c.3578C>T (p.Ser1193Leu) c.1974C>T c.-1003-93G>A (n.-1003-93G>A) c.3734C>T (p.Ser1245Leu) c.3638C>T (p.Ser1213Leu) c.1343C>T (p.Ser448Leu) c.3761C>T (p.Ser1254Leu) c.3665C>T (p.Ser1222Leu) c.3605C>T (p.Ser1202Leu) c.3509C>T (p.Ser1170Leu) c.3479C>T (p.Ser1160Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43042965G>C | CA364203098 | CUL7,KLC4 | n.1553C>G c.3482C>G (p.Ser1161Ter) c.*138C>G (n.*138C>G) n.4043C>G c.*1779C>G (n.*1779C>G) n.3765C>G n.4059C>G c.1412-59C>G n.4321C>G c.3578C>G (p.Ser1193Ter) c.1974C>G c.-1003-93G>C (n.-1003-93G>C) c.3734C>G (p.Ser1245Ter) c.3638C>G (p.Ser1213Ter) c.1343C>G (p.Ser448Ter) c.3761C>G (p.Ser1254Ter) c.3665C>G (p.Ser1222Ter) c.3605C>G (p.Ser1202Ter) c.3509C>G (p.Ser1170Ter) c.3479C>G (p.Ser1160Ter) | |
| 6 | g.43042965G= | CA1624354900 | CUL7,KLC4 | n.1553C= c.3482C= (p.Ser1161=) c.*138C= (n.*138C=) n.4043C= c.*1779C= (n.*1779C=) n.3765C= n.4059C= c.1412-59C= n.4321C= c.3578C= (p.Ser1193=) c.1974C= c.-1003-93G= (n.-1003-93G=) c.3734C= (p.Ser1245=) c.3638C= (p.Ser1213=) c.1343C= (p.Ser448=) c.3761C= (p.Ser1254=) c.3665C= (p.Ser1222=) c.3605C= (p.Ser1202=) c.3509C= (p.Ser1170=) c.3479C= (p.Ser1160=) | |
| 6 | g.43042965G>T | CA364203096 | CUL7,KLC4 | n.1553C>A c.3482C>A (p.Ser1161Ter) c.*138C>A (n.*138C>A) n.4043C>A c.*1779C>A (n.*1779C>A) n.3765C>A n.4059C>A c.1412-59C>A n.4321C>A c.3578C>A (p.Ser1193Ter) c.1974C>A c.-1003-93G>T (n.-1003-93G>T) c.3734C>A (p.Ser1245Ter) c.3638C>A (p.Ser1213Ter) c.1343C>A (p.Ser448Ter) c.3761C>A (p.Ser1254Ter) c.3665C>A (p.Ser1222Ter) c.3605C>A (p.Ser1202Ter) c.3509C>A (p.Ser1170Ter) c.3479C>A (p.Ser1160Ter) | |
| 6 | g.43042966A>C | CA364203100 | CUL7,KLC4 | n.1552T>G c.3481T>G (p.Ser1161Ala) c.*137T>G (n.*137T>G) n.4042T>G c.*1778T>G (n.*1778T>G) n.3764T>G n.4058T>G c.1412-60T>G n.4320T>G c.3577T>G (p.Ser1193Ala) c.1973T>G c.-1003-92A>C (n.-1003-92A>C) c.3733T>G (p.Ser1245Ala) c.3637T>G (p.Ser1213Ala) c.1342T>G (p.Ser448Ala) c.3760T>G (p.Ser1254Ala) c.3664T>G (p.Ser1222Ala) c.3604T>G (p.Ser1202Ala) c.3508T>G (p.Ser1170Ala) c.3478T>G (p.Ser1160Ala) | |
| 6 | g.43042966A>G | CA364203102 | CUL7,KLC4 | n.1552T>C c.3481T>C (p.Ser1161Pro) c.*137T>C (n.*137T>C) n.4042T>C c.*1778T>C (n.*1778T>C) n.3764T>C n.4058T>C c.1412-60T>C n.4320T>C c.3577T>C (p.Ser1193Pro) c.1973T>C c.-1003-92A>G (n.-1003-92A>G) c.3733T>C (p.Ser1245Pro) c.3637T>C (p.Ser1213Pro) c.1342T>C (p.Ser448Pro) c.3760T>C (p.Ser1254Pro) c.3664T>C (p.Ser1222Pro) c.3604T>C (p.Ser1202Pro) c.3508T>C (p.Ser1170Pro) c.3478T>C (p.Ser1160Pro) | |
| 6 | g.43042966A>T | CA364203103 | CUL7,KLC4 | n.1552T>A c.3481T>A (p.Ser1161Thr) c.*137T>A (n.*137T>A) n.4042T>A c.*1778T>A (n.*1778T>A) n.3764T>A n.4058T>A c.1412-60T>A n.4320T>A c.3577T>A (p.Ser1193Thr) c.1973T>A c.-1003-92A>T (n.-1003-92A>T) c.3733T>A (p.Ser1245Thr) c.3637T>A (p.Ser1213Thr) c.1342T>A (p.Ser448Thr) c.3760T>A (p.Ser1254Thr) c.3664T>A (p.Ser1222Thr) c.3604T>A (p.Ser1202Thr) c.3508T>A (p.Ser1170Thr) c.3478T>A (p.Ser1160Thr) | |
| 6 | g.43042967G>A | CA450369681 | CUL7,KLC4 | n.1551C>T c.3480C>T (p.Thr1160=) c.*136C>T (n.*136C>T) n.4041C>T c.*1777C>T (n.*1777C>T) n.3763C>T n.4057C>T c.1412-61C>T n.4319C>T c.3576C>T (p.Thr1192=) c.1972C>T c.-1003-91G>A (n.-1003-91G>A) c.3732C>T (p.Thr1244=) c.3636C>T (p.Thr1212=) c.1341C>T (p.Thr447=) c.3759C>T (p.Thr1253=) c.3663C>T (p.Thr1221=) c.3603C>T (p.Thr1201=) c.3507C>T (p.Thr1169=) c.3477C>T (p.Thr1159=) | gnomAD v4 |
| 6 | g.43042967G>C | CA450369682 | CUL7,KLC4 | n.1551C>G c.3480C>G (p.Thr1160=) c.*136C>G (n.*136C>G) n.4041C>G c.*1777C>G (n.*1777C>G) n.3763C>G n.4057C>G c.1412-61C>G n.4319C>G c.3576C>G (p.Thr1192=) c.1972C>G c.-1003-91G>C (n.-1003-91G>C) c.3732C>G (p.Thr1244=) c.3636C>G (p.Thr1212=) c.1341C>G (p.Thr447=) c.3759C>G (p.Thr1253=) c.3663C>G (p.Thr1221=) c.3603C>G (p.Thr1201=) c.3507C>G (p.Thr1169=) c.3477C>G (p.Thr1159=) | gnomAD v4 |
| 6 | g.43042967G= | CA1624354901 | CUL7,KLC4 | n.1551C= c.3480C= (p.Thr1160=) c.*136C= (n.*136C=) n.4041C= c.*1777C= (n.*1777C=) n.3763C= n.4057C= c.1412-61C= n.4319C= c.3576C= (p.Thr1192=) c.1972C= c.-1003-91G= (n.-1003-91G=) c.3732C= (p.Thr1244=) c.3636C= (p.Thr1212=) c.1341C= (p.Thr447=) c.3759C= (p.Thr1253=) c.3663C= (p.Thr1221=) c.3603C= (p.Thr1201=) c.3507C= (p.Thr1169=) c.3477C= (p.Thr1159=) | |
| 6 | g.43042967G>T | CA450369683 | CUL7,KLC4 | n.1551C>A c.3480C>A (p.Thr1160=) c.*136C>A (n.*136C>A) n.4041C>A c.*1777C>A (n.*1777C>A) n.3763C>A n.4057C>A c.1412-61C>A n.4319C>A c.3576C>A (p.Thr1192=) c.1972C>A c.-1003-91G>T (n.-1003-91G>T) c.3732C>A (p.Thr1244=) c.3636C>A (p.Thr1212=) c.1341C>A (p.Thr447=) c.3759C>A (p.Thr1253=) c.3663C>A (p.Thr1221=) c.3603C>A (p.Thr1201=) c.3507C>A (p.Thr1169=) c.3477C>A (p.Thr1159=) | dbSNP |
| 6 | g.43042968G>A | CA364203105 | CUL7,KLC4 | n.1550C>T c.3479C>T (p.Thr1160Ile) c.*135C>T (n.*135C>T) n.4040C>T c.*1776C>T (n.*1776C>T) n.3762C>T n.4056C>T c.1412-62C>T n.4318C>T c.3575C>T (p.Thr1192Ile) c.1971C>T c.-1003-90G>A (n.-1003-90G>A) c.3731C>T (p.Thr1244Ile) c.3635C>T (p.Thr1212Ile) c.1340C>T (p.Thr447Ile) c.3758C>T (p.Thr1253Ile) c.3662C>T (p.Thr1221Ile) c.3602C>T (p.Thr1201Ile) c.3506C>T (p.Thr1169Ile) c.3476C>T (p.Thr1159Ile) | |
| 6 | g.43042968G>C | CA364203106 | CUL7,KLC4 | n.1550C>G c.3479C>G (p.Thr1160Ser) c.*135C>G (n.*135C>G) n.4040C>G c.*1776C>G (n.*1776C>G) n.3762C>G n.4056C>G c.1412-62C>G n.4318C>G c.3575C>G (p.Thr1192Ser) c.1971C>G c.-1003-90G>C (n.-1003-90G>C) c.3731C>G (p.Thr1244Ser) c.3635C>G (p.Thr1212Ser) c.1340C>G (p.Thr447Ser) c.3758C>G (p.Thr1253Ser) c.3662C>G (p.Thr1221Ser) c.3602C>G (p.Thr1201Ser) c.3506C>G (p.Thr1169Ser) c.3476C>G (p.Thr1159Ser) | |
| 6 | g.43042968G>T | CA364203108 | CUL7,KLC4 | n.1550C>A c.3479C>A (p.Thr1160Asn) c.*135C>A (n.*135C>A) n.4040C>A c.*1776C>A (n.*1776C>A) n.3762C>A n.4056C>A c.1412-62C>A n.4318C>A c.3575C>A (p.Thr1192Asn) c.1971C>A c.-1003-90G>T (n.-1003-90G>T) c.3731C>A (p.Thr1244Asn) c.3635C>A (p.Thr1212Asn) c.1340C>A (p.Thr447Asn) c.3758C>A (p.Thr1253Asn) c.3662C>A (p.Thr1221Asn) c.3602C>A (p.Thr1201Asn) c.3506C>A (p.Thr1169Asn) c.3476C>A (p.Thr1159Asn) | |
| 6 | g.43042969T>A | CA364203111 | CUL7,KLC4 | n.1549A>T c.3478A>T (p.Thr1160Ser) c.*134A>T (n.*134A>T) n.4039A>T c.*1775A>T (n.*1775A>T) n.3761A>T n.4055A>T c.1412-63A>T n.4317A>T c.3574A>T (p.Thr1192Ser) c.1970A>T c.-1003-89T>A (n.-1003-89T>A) c.3730A>T (p.Thr1244Ser) c.3634A>T (p.Thr1212Ser) c.1339A>T (p.Thr447Ser) c.3757A>T (p.Thr1253Ser) c.3661A>T (p.Thr1221Ser) c.3601A>T (p.Thr1201Ser) c.3505A>T (p.Thr1169Ser) c.3475A>T (p.Thr1159Ser) | |
| 6 | g.43042969T>C | CA364203112 | CUL7,KLC4 | n.1549A>G c.3478A>G (p.Thr1160Ala) c.*134A>G (n.*134A>G) n.4039A>G c.*1775A>G (n.*1775A>G) n.3761A>G n.4055A>G c.1412-63A>G n.4317A>G c.3574A>G (p.Thr1192Ala) c.1970A>G c.-1003-89T>C (n.-1003-89T>C) c.3730A>G (p.Thr1244Ala) c.3634A>G (p.Thr1212Ala) c.1339A>G (p.Thr447Ala) c.3757A>G (p.Thr1253Ala) c.3661A>G (p.Thr1221Ala) c.3601A>G (p.Thr1201Ala) c.3505A>G (p.Thr1169Ala) c.3475A>G (p.Thr1159Ala) | |
| 6 | g.43042969T>G | CA364203114 | CUL7,KLC4 | n.1549A>C c.3478A>C (p.Thr1160Pro) c.*134A>C (n.*134A>C) n.4039A>C c.*1775A>C (n.*1775A>C) n.3761A>C n.4055A>C c.1412-63A>C n.4317A>C c.3574A>C (p.Thr1192Pro) c.1970A>C c.-1003-89T>G (n.-1003-89T>G) c.3730A>C (p.Thr1244Pro) c.3634A>C (p.Thr1212Pro) c.1339A>C (p.Thr447Pro) c.3757A>C (p.Thr1253Pro) c.3661A>C (p.Thr1221Pro) c.3601A>C (p.Thr1201Pro) c.3505A>C (p.Thr1169Pro) c.3475A>C (p.Thr1159Pro) | |
| 6 | g.43042969_43042970insTT | CA913110551 | CUL7,KLC4 | n.1549_1550insAA c.3478_3479insAA (p.Thr1160LysfsTer?) c.*134_*135insAA (n.*134_*135insAA) n.4039_4040insAA c.*1775_*1776insAA (n.*1775_*1776insAA) n.3761_3762insAA n.4055_4056insAA c.1412-63_1412-62insAA n.4317_4318insAA c.3574_3575insAA (p.Thr1192LysfsTer?) c.1970_1971insAA c.-1003-89_-1003-88insTT (n.-1003-89_-1003-88insTT) c.3730_3731insAA (p.Thr1244LysfsTer?) c.3634_3635insAA (p.Thr1212LysfsTer?) c.1339_1340insAA (p.Thr447LysfsTer?) c.3757_3758insAA (p.Thr1253LysfsTer?) c.3661_3662insAA (p.Thr1221LysfsTer?) c.3601_3602insAA (p.Thr1201LysfsTer?) c.3505_3506insAA (p.Thr1169LysfsTer?) c.3475_3476insAA (p.Thr1159LysfsTer?) | |
| 6 | g.43042970C>A | CA450369684 | CUL7,KLC4 | n.1548G>T c.3477G>T (p.Leu1159=) c.*133G>T (n.*133G>T) n.4038G>T c.*1774G>T (n.*1774G>T) n.3760G>T n.4054G>T c.1412-64G>T n.4316G>T c.3573G>T (p.Leu1191=) c.1969G>T c.-1003-88C>A (n.-1003-88C>A) c.3729G>T (p.Leu1243=) c.3633G>T (p.Leu1211=) c.1338G>T (p.Leu446=) c.3756G>T (p.Leu1252=) c.3660G>T (p.Leu1220=) c.3600G>T (p.Leu1200=) c.3504G>T (p.Leu1168=) c.3474G>T (p.Leu1158=) | |
| 6 | g.43042970C>G | CA450369685 | CUL7,KLC4 | n.1548G>C c.3477G>C (p.Leu1159=) c.*133G>C (n.*133G>C) n.4038G>C c.*1774G>C (n.*1774G>C) n.3760G>C n.4054G>C c.1412-64G>C n.4316G>C c.3573G>C (p.Leu1191=) c.1969G>C c.-1003-88C>G (n.-1003-88C>G) c.3729G>C (p.Leu1243=) c.3633G>C (p.Leu1211=) c.1338G>C (p.Leu446=) c.3756G>C (p.Leu1252=) c.3660G>C (p.Leu1220=) c.3600G>C (p.Leu1200=) c.3504G>C (p.Leu1168=) c.3474G>C (p.Leu1158=) | |
| 6 | g.43042970C>T | CA450369686 | CUL7,KLC4 | n.1548G>A c.3477G>A (p.Leu1159=) c.*133G>A (n.*133G>A) n.4038G>A c.*1774G>A (n.*1774G>A) n.3760G>A n.4054G>A c.1412-64G>A n.4316G>A c.3573G>A (p.Leu1191=) c.1969G>A c.-1003-88C>T (n.-1003-88C>T) c.3729G>A (p.Leu1243=) c.3633G>A (p.Leu1211=) c.1338G>A (p.Leu446=) c.3756G>A (p.Leu1252=) c.3660G>A (p.Leu1220=) c.3600G>A (p.Leu1200=) c.3504G>A (p.Leu1168=) c.3474G>A (p.Leu1158=) | |
| 6 | g.43042971A>C | CA364203116 | CUL7,KLC4 | n.1547T>G c.3476T>G (p.Leu1159Arg) c.*132T>G (n.*132T>G) n.4037T>G c.*1773T>G (n.*1773T>G) n.3759T>G n.4053T>G c.1412-65T>G n.4315T>G c.3572T>G (p.Leu1191Arg) c.1968T>G c.-1003-87A>C (n.-1003-87A>C) c.3728T>G (p.Leu1243Arg) c.3632T>G (p.Leu1211Arg) c.1337T>G (p.Leu446Arg) c.3755T>G (p.Leu1252Arg) c.3659T>G (p.Leu1220Arg) c.3599T>G (p.Leu1200Arg) c.3503T>G (p.Leu1168Arg) c.3473T>G (p.Leu1158Arg) |