Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.103147427T>A | CA357780737 | CENPE | c.4063A>T (p.Lys1355Ter) c.3988A>T (p.Lys1330Ter) c.3859A>T (p.Lys1287Ter) | |
4 | g.103147427T>C | CA210897 | CENPE | c.4063A>G (p.Lys1355Glu) c.3988A>G (p.Lys1330Glu) c.3859A>G (p.Lys1287Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.103147427T>G | CA357780736 | CENPE | c.4063A>C (p.Lys1355Gln) c.3988A>C (p.Lys1330Gln) c.3859A>C (p.Lys1287Gln) | |
4 | g.103147427T= | CA1481685017 | CENPE | c.4063A= (p.Lys1355=) c.3988A= (p.Lys1330=) c.3859A= (p.Lys1287=) | |
4 | g.103147428A>C | CA440810955 | CENPE | c.4062T>G (p.Leu1354=) c.3987T>G (p.Leu1329=) c.3858T>G (p.Leu1286=) | |
4 | g.103147428A>G | CA440810956 | CENPE | c.4062T>C (p.Leu1354=) c.3987T>C (p.Leu1329=) c.3858T>C (p.Leu1286=) | |
4 | g.103147428A>T | CA440810957 | CENPE | c.4062T>A (p.Leu1354=) c.3987T>A (p.Leu1329=) c.3858T>A (p.Leu1286=) | |
4 | g.103147429A= | CA1481685020 | CENPE | c.4061T= (p.Leu1354=) c.3986T= (p.Leu1329=) c.3857T= (p.Leu1286=) | |
4 | g.103147429A>C | CA357780738 | CENPE | c.4061T>G (p.Leu1354Arg) c.3986T>G (p.Leu1329Arg) c.3857T>G (p.Leu1286Arg) | dbSNP |
4 | g.103147429A>G | CA357780739 | CENPE | c.4061T>C (p.Leu1354Pro) c.3986T>C (p.Leu1329Pro) c.3857T>C (p.Leu1286Pro) | |
4 | g.103147429A>T | CA357780740 | CENPE | c.4061T>A (p.Leu1354His) c.3986T>A (p.Leu1329His) c.3857T>A (p.Leu1286His) | |
4 | g.103147429_103147430delinsAG | CA1481685019 | CENPE | c.4060_4061delinsCT (p.Leu1354=) c.3985_3986delinsCT (p.Leu1329=) c.3856_3857delinsCT (p.Leu1286=) | |
4 | g.103147430G>A | CA357780741 | CENPE | c.4060C>T (p.Leu1354Phe) c.3985C>T (p.Leu1329Phe) c.3856C>T (p.Leu1286Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.103147430G>C | CA357780742 | CENPE | c.4060C>G (p.Leu1354Val) c.3985C>G (p.Leu1329Val) c.3856C>G (p.Leu1286Val) | |
4 | g.103147430G= | CA1481685022 | CENPE | c.4060C= (p.Leu1354=) c.3985C= (p.Leu1329=) c.3856C= (p.Leu1286=) | |
4 | g.103147430G>T | CA357780743 | CENPE | c.4060C>A (p.Leu1354Ile) c.3985C>A (p.Leu1329Ile) c.3856C>A (p.Leu1286Ile) | |
4 | g.103147431del | CA554048973 | CENPE | c.4060del (p.Thr1356ArgfsTer2) c.3985del (p.Thr1331ArgfsTer2) c.3856del (p.Thr1288ArgfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.103147431G>A | CA440810958 | CENPE | c.4059C>T (p.Asn1353=) c.3984C>T (p.Asn1328=) c.3855C>T (p.Asn1285=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.103147431G>C | CA357780744 | CENPE | c.4059C>G (p.Asn1353Lys) c.3984C>G (p.Asn1328Lys) c.3855C>G (p.Asn1285Lys) | |
4 | g.103147431G= | CA1481685024 | CENPE | c.4059C= (p.Asn1353=) c.3984C= (p.Asn1328=) c.3855C= (p.Asn1285=) | |
4 | g.103147431G>T | CA357780745 | CENPE | c.4059C>A (p.Asn1353Lys) c.3984C>A (p.Asn1328Lys) c.3855C>A (p.Asn1285Lys) | |
4 | g.103147432T>A | CA357780746 | CENPE | c.4058A>T (p.Asn1353Ile) c.3983A>T (p.Asn1328Ile) c.3854A>T (p.Asn1285Ile) | |
4 | g.103147432T>C | CA357780747 | CENPE | c.4058A>G (p.Asn1353Ser) c.3983A>G (p.Asn1328Ser) c.3854A>G (p.Asn1285Ser) | |
4 | g.103147432T>G | CA357780748 | CENPE | c.4058A>C (p.Asn1353Thr) c.3983A>C (p.Asn1328Thr) c.3854A>C (p.Asn1285Thr) | |
4 | g.103147433T>A | CA357780750 | CENPE | c.4057A>T (p.Asn1353Tyr) c.3982A>T (p.Asn1328Tyr) c.3853A>T (p.Asn1285Tyr) | |
4 | g.103147433T>C | CA357780751 | CENPE | c.4057A>G (p.Asn1353Asp) c.3982A>G (p.Asn1328Asp) c.3853A>G (p.Asn1285Asp) | |
4 | g.103147433T>G | CA357780749 | CENPE | c.4057A>C (p.Asn1353His) c.3982A>C (p.Asn1328His) c.3853A>C (p.Asn1285His) | |
4 | g.103147434G>A | CA440810959 | CENPE | c.4056C>T (p.Asp1352=) c.3981C>T (p.Asp1327=) c.3852C>T (p.Asp1284=) | |
4 | g.103147434G>C | CA357780752 | CENPE | c.4056C>G (p.Asp1352Glu) c.3981C>G (p.Asp1327Glu) c.3852C>G (p.Asp1284Glu) | |
4 | g.103147434G>T | CA357780753 | CENPE | c.4056C>A (p.Asp1352Glu) c.3981C>A (p.Asp1327Glu) c.3852C>A (p.Asp1284Glu) | COSMIC COSMIC |
4 | g.103147435T>A | CA357780754 | CENPE | c.4055A>T (p.Asp1352Val) c.3980A>T (p.Asp1327Val) c.3851A>T (p.Asp1284Val) | gnomAD v4 |
4 | g.103147435T>C | CA357780755 | CENPE | c.4055A>G (p.Asp1352Gly) c.3980A>G (p.Asp1327Gly) c.3851A>G (p.Asp1284Gly) | |
4 | g.103147435T>G | CA357780756 | CENPE | c.4055A>C (p.Asp1352Ala) c.3980A>C (p.Asp1327Ala) c.3851A>C (p.Asp1284Ala) | |
4 | g.103147436C>A | CA357780757 | CENPE | c.4054G>T (p.Asp1352Tyr) c.3979G>T (p.Asp1327Tyr) c.3850G>T (p.Asp1284Tyr) | |
4 | g.103147436C>G | CA357780758 | CENPE | c.4054G>C (p.Asp1352His) c.3979G>C (p.Asp1327His) c.3850G>C (p.Asp1284His) | gnomAD v4 |
4 | g.103147436C>T | CA357780759 | CENPE | c.4054G>A (p.Asp1352Asn) c.3979G>A (p.Asp1327Asn) c.3850G>A (p.Asp1284Asn) | |
4 | g.103147437T>A | CA357780760 | CENPE | c.4053A>T (p.Arg1351Ser) c.3978A>T (p.Arg1326Ser) c.3849A>T (p.Arg1283Ser) | |
4 | g.103147437T>C | CA440810960 | CENPE | c.4053A>G (p.Arg1351=) c.3978A>G (p.Arg1326=) c.3849A>G (p.Arg1283=) | |
4 | g.103147437T>G | CA357780761 | CENPE | c.4053A>C (p.Arg1351Ser) c.3978A>C (p.Arg1326Ser) c.3849A>C (p.Arg1283Ser) | |
4 | g.103147438C>A | CA357780762 | CENPE | c.4052G>T (p.Arg1351Ile) c.3977G>T (p.Arg1326Ile) c.3848G>T (p.Arg1283Ile) | |
4 | g.103147438C= | CA1481685026 | CENPE | c.4052G= (p.Arg1351=) c.3977G= (p.Arg1326=) c.3848G= (p.Arg1283=) | |
4 | g.103147438C>G | CA3029915 | CENPE | c.4052G>C (p.Arg1351Thr) c.3977G>C (p.Arg1326Thr) c.3848G>C (p.Arg1283Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.103147438C>T | CA357780763 | CENPE | c.4052G>A (p.Arg1351Lys) c.3977G>A (p.Arg1326Lys) c.3848G>A (p.Arg1283Lys) | |
4 | g.103147439T>A | CA357780764 | CENPE | c.4051A>T (p.Arg1351Ter) c.3976A>T (p.Arg1326Ter) c.3847A>T (p.Arg1283Ter) | |
4 | g.103147439T>C | CA357780765 | CENPE | c.4051A>G (p.Arg1351Gly) c.3976A>G (p.Arg1326Gly) c.3847A>G (p.Arg1283Gly) | |
4 | g.103147439T>G | CA440810961 | CENPE | c.4051A>C (p.Arg1351=) c.3976A>C (p.Arg1326=) c.3847A>C (p.Arg1283=) | |
4 | g.103147440T>A | CA357780766 | CENPE | c.4050A>T (p.Glu1350Asp) c.3975A>T (p.Glu1325Asp) c.3846A>T (p.Glu1282Asp) | |
4 | g.103147440T>C | CA440810962 | CENPE | c.4050A>G (p.Glu1350=) c.3975A>G (p.Glu1325=) c.3846A>G (p.Glu1282=) | |
4 | g.103147440T>G | CA357780767 | CENPE | c.4050A>C (p.Glu1350Asp) c.3975A>C (p.Glu1325Asp) c.3846A>C (p.Glu1282Asp) | |
4 | g.103147441T>A | CA357780768 | CENPE | c.4049A>T (p.Glu1350Val) c.3974A>T (p.Glu1325Val) c.3845A>T (p.Glu1282Val) |