UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 6 | g.43042971A>G | CA364203118 | CUL7,KLC4 | n.1547T>C c.3476T>C (p.Leu1159Pro) c.*132T>C (n.*132T>C) n.4037T>C c.*1773T>C (n.*1773T>C) n.3759T>C n.4053T>C c.1412-65T>C n.4315T>C c.3572T>C (p.Leu1191Pro) c.1968T>C c.-1003-87A>G (n.-1003-87A>G) c.3728T>C (p.Leu1243Pro) c.3632T>C (p.Leu1211Pro) c.1337T>C (p.Leu446Pro) c.3755T>C (p.Leu1252Pro) c.3659T>C (p.Leu1220Pro) c.3599T>C (p.Leu1200Pro) c.3503T>C (p.Leu1168Pro) c.3473T>C (p.Leu1158Pro) | |
| 6 | g.43042971A>T | CA364203119 | CUL7,KLC4 | n.1547T>A c.3476T>A (p.Leu1159Gln) c.*132T>A (n.*132T>A) n.4037T>A c.*1773T>A (n.*1773T>A) n.3759T>A n.4053T>A c.1412-65T>A n.4315T>A c.3572T>A (p.Leu1191Gln) c.1968T>A c.-1003-87A>T (n.-1003-87A>T) c.3728T>A (p.Leu1243Gln) c.3632T>A (p.Leu1211Gln) c.1337T>A (p.Leu446Gln) c.3755T>A (p.Leu1252Gln) c.3659T>A (p.Leu1220Gln) c.3599T>A (p.Leu1200Gln) c.3503T>A (p.Leu1168Gln) c.3473T>A (p.Leu1158Gln) | |
| 6 | g.43042972G>A | CA450369687 | CUL7,KLC4 | n.1546C>T c.3475C>T (p.Leu1159=) c.*131C>T (n.*131C>T) n.4036C>T c.*1772C>T (n.*1772C>T) n.3758C>T n.4052C>T c.1412-66C>T n.4314C>T c.3571C>T (p.Leu1191=) c.1967C>T c.-1003-86G>A (n.-1003-86G>A) c.3727C>T (p.Leu1243=) c.3631C>T (p.Leu1211=) c.1336C>T (p.Leu446=) c.3754C>T (p.Leu1252=) c.3658C>T (p.Leu1220=) c.3598C>T (p.Leu1200=) c.3502C>T (p.Leu1168=) c.3472C>T (p.Leu1158=) | |
| 6 | g.43042972G>C | CA364203121 | CUL7,KLC4 | n.1546C>G c.3475C>G (p.Leu1159Val) c.*131C>G (n.*131C>G) n.4036C>G c.*1772C>G (n.*1772C>G) n.3758C>G n.4052C>G c.1412-66C>G n.4314C>G c.3571C>G (p.Leu1191Val) c.1967C>G c.-1003-86G>C (n.-1003-86G>C) c.3727C>G (p.Leu1243Val) c.3631C>G (p.Leu1211Val) c.1336C>G (p.Leu446Val) c.3754C>G (p.Leu1252Val) c.3658C>G (p.Leu1220Val) c.3598C>G (p.Leu1200Val) c.3502C>G (p.Leu1168Val) c.3472C>G (p.Leu1158Val) | |
| 6 | g.43042972G>T | CA364203123 | CUL7,KLC4 | n.1546C>A c.3475C>A (p.Leu1159Met) c.*131C>A (n.*131C>A) n.4036C>A c.*1772C>A (n.*1772C>A) n.3758C>A n.4052C>A c.1412-66C>A n.4314C>A c.3571C>A (p.Leu1191Met) c.1967C>A c.-1003-86G>T (n.-1003-86G>T) c.3727C>A (p.Leu1243Met) c.3631C>A (p.Leu1211Met) c.1336C>A (p.Leu446Met) c.3754C>A (p.Leu1252Met) c.3658C>A (p.Leu1220Met) c.3598C>A (p.Leu1200Met) c.3502C>A (p.Leu1168Met) c.3472C>A (p.Leu1158Met) | |
| 6 | g.43042973A= | CA1624354902 | CUL7,KLC4 | n.1545T= c.3474T= (p.Phe1158=) c.*130T= (n.*130T=) n.4035T= c.*1771T= (n.*1771T=) n.3757T= n.4051T= c.1412-67T= n.4313T= c.3570T= (p.Phe1190=) c.1966T= c.-1003-85A= (n.-1003-85A=) c.3726T= (p.Phe1242=) c.3630T= (p.Phe1210=) c.1335T= (p.Phe445=) c.3753T= (p.Phe1251=) c.3657T= (p.Phe1219=) c.3597T= (p.Phe1199=) c.3501T= (p.Phe1167=) c.3471T= (p.Phe1157=) | |
| 6 | g.43042973A>C | CA364203125 | CUL7,KLC4 | n.1545T>G c.3474T>G (p.Phe1158Leu) c.*130T>G (n.*130T>G) n.4035T>G c.*1771T>G (n.*1771T>G) n.3757T>G n.4051T>G c.1412-67T>G n.4313T>G c.3570T>G (p.Phe1190Leu) c.1966T>G c.-1003-85A>C (n.-1003-85A>C) c.3726T>G (p.Phe1242Leu) c.3630T>G (p.Phe1210Leu) c.1335T>G (p.Phe445Leu) c.3753T>G (p.Phe1251Leu) c.3657T>G (p.Phe1219Leu) c.3597T>G (p.Phe1199Leu) c.3501T>G (p.Phe1167Leu) c.3471T>G (p.Phe1157Leu) | |
| 6 | g.43042973A>G | CA450369688 | CUL7,KLC4 | n.1545T>C c.3474T>C (p.Phe1158=) c.*130T>C (n.*130T>C) n.4035T>C c.*1771T>C (n.*1771T>C) n.3757T>C n.4051T>C c.1412-67T>C n.4313T>C c.3570T>C (p.Phe1190=) c.1966T>C c.-1003-85A>G (n.-1003-85A>G) c.3726T>C (p.Phe1242=) c.3630T>C (p.Phe1210=) c.1335T>C (p.Phe445=) c.3753T>C (p.Phe1251=) c.3657T>C (p.Phe1219=) c.3597T>C (p.Phe1199=) c.3501T>C (p.Phe1167=) c.3471T>C (p.Phe1157=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.43042973A>T | CA364203126 | CUL7,KLC4 | n.1545T>A c.3474T>A (p.Phe1158Leu) c.*130T>A (n.*130T>A) n.4035T>A c.*1771T>A (n.*1771T>A) n.3757T>A n.4051T>A c.1412-67T>A n.4313T>A c.3570T>A (p.Phe1190Leu) c.1966T>A c.-1003-85A>T (n.-1003-85A>T) c.3726T>A (p.Phe1242Leu) c.3630T>A (p.Phe1210Leu) c.1335T>A (p.Phe445Leu) c.3753T>A (p.Phe1251Leu) c.3657T>A (p.Phe1219Leu) c.3597T>A (p.Phe1199Leu) c.3501T>A (p.Phe1167Leu) c.3471T>A (p.Phe1157Leu) | |
| 6 | g.43042974A>C | CA364203127 | CUL7,KLC4 | n.1544T>G c.3473T>G (p.Phe1158Cys) c.*129T>G (n.*129T>G) n.4034T>G c.*1770T>G (n.*1770T>G) n.3756T>G n.4050T>G c.1412-68T>G n.4312T>G c.3569T>G (p.Phe1190Cys) c.1965T>G c.-1003-84A>C (n.-1003-84A>C) c.3725T>G (p.Phe1242Cys) c.3629T>G (p.Phe1210Cys) c.1334T>G (p.Phe445Cys) c.3752T>G (p.Phe1251Cys) c.3656T>G (p.Phe1219Cys) c.3596T>G (p.Phe1199Cys) c.3500T>G (p.Phe1167Cys) c.3470T>G (p.Phe1157Cys) | |
| 6 | g.43042974A>G | CA364203128 | CUL7,KLC4 | n.1544T>C c.3473T>C (p.Phe1158Ser) c.*129T>C (n.*129T>C) n.4034T>C c.*1770T>C (n.*1770T>C) n.3756T>C n.4050T>C c.1412-68T>C n.4312T>C c.3569T>C (p.Phe1190Ser) c.1965T>C c.-1003-84A>G (n.-1003-84A>G) c.3725T>C (p.Phe1242Ser) c.3629T>C (p.Phe1210Ser) c.1334T>C (p.Phe445Ser) c.3752T>C (p.Phe1251Ser) c.3656T>C (p.Phe1219Ser) c.3596T>C (p.Phe1199Ser) c.3500T>C (p.Phe1167Ser) c.3470T>C (p.Phe1157Ser) | |
| 6 | g.43042974A>T | CA364203129 | CUL7,KLC4 | n.1544T>A c.3473T>A (p.Phe1158Tyr) c.*129T>A (n.*129T>A) n.4034T>A c.*1770T>A (n.*1770T>A) n.3756T>A n.4050T>A c.1412-68T>A n.4312T>A c.3569T>A (p.Phe1190Tyr) c.1965T>A c.-1003-84A>T (n.-1003-84A>T) c.3725T>A (p.Phe1242Tyr) c.3629T>A (p.Phe1210Tyr) c.1334T>A (p.Phe445Tyr) c.3752T>A (p.Phe1251Tyr) c.3656T>A (p.Phe1219Tyr) c.3596T>A (p.Phe1199Tyr) c.3500T>A (p.Phe1167Tyr) c.3470T>A (p.Phe1157Tyr) | |
| 6 | g.43042975A>C | CA364203130 | CUL7,KLC4 | n.1543T>G c.3472T>G (p.Phe1158Val) c.*128T>G (n.*128T>G) n.4033T>G c.*1769T>G (n.*1769T>G) n.3755T>G n.4049T>G c.1412-69T>G n.4311T>G c.3568T>G (p.Phe1190Val) c.1964T>G c.-1003-83A>C (n.-1003-83A>C) c.3724T>G (p.Phe1242Val) c.3628T>G (p.Phe1210Val) c.1333T>G (p.Phe445Val) c.3751T>G (p.Phe1251Val) c.3655T>G (p.Phe1219Val) c.3595T>G (p.Phe1199Val) c.3499T>G (p.Phe1167Val) c.3469T>G (p.Phe1157Val) | |
| 6 | g.43042975A>G | CA364203131 | CUL7,KLC4 | n.1543T>C c.3472T>C (p.Phe1158Leu) c.*128T>C (n.*128T>C) n.4033T>C c.*1769T>C (n.*1769T>C) n.3755T>C n.4049T>C c.1412-69T>C n.4311T>C c.3568T>C (p.Phe1190Leu) c.1964T>C c.-1003-83A>G (n.-1003-83A>G) c.3724T>C (p.Phe1242Leu) c.3628T>C (p.Phe1210Leu) c.1333T>C (p.Phe445Leu) c.3751T>C (p.Phe1251Leu) c.3655T>C (p.Phe1219Leu) c.3595T>C (p.Phe1199Leu) c.3499T>C (p.Phe1167Leu) c.3469T>C (p.Phe1157Leu) |