| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5565242_5565260delinsAGGTGCCCATCATTACCTC | CA1435391949 | EVC2 | c.3657_3659+16delinsGAGGTAATGATGGGCACCT c.3417_3419+16delinsGAGGTAATGATGGGCACCT c.*2050_*2052+16delinsGAGGTAATGATGGGCACCT c.3666_3668+16delinsGAGGTAATGATGGGCACCT c.3426_3428+16delinsGAGGTAATGATGGGCACCT c.1977_1979+16delinsGAGGTAATGATGGGCACCT n.3507_3509+16delinsGAGGTAATGATGGGCACCT | |
| 4 | g.5565243_5565260del | CA1058835537 | EVC2 | c.3657_3659+15del c.3417_3419+15del c.*2050_*2052+15del c.3666_3668+15del c.3426_3428+15del c.1977_1979+15del n.3507_3509+15del | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5565256A= | CA1435391960 | EVC2 | c.3659+2T= (n.3659+2T=) c.3419+2T= (n.3419+2T=) c.*2052+2T= (n.*2052+2T=) c.3668+2T= (n.3668+2T=) c.3428+2T= (n.3428+2T=) c.1979+2T= (n.1979+2T=) n.3509+2T= | |
| 4 | g.5565256A>C | CA356147961 | EVC2 | c.3659+2T>G (n.3659+2T>G) c.3419+2T>G (n.3419+2T>G) c.*2052+2T>G (n.*2052+2T>G) c.3668+2T>G (n.3668+2T>G) c.3428+2T>G (n.3428+2T>G) c.1979+2T>G (n.1979+2T>G) n.3509+2T>G | |
| 4 | g.5565256A>G | CA2834238 | EVC2 | c.3659+2T>C (n.3659+2T>C) c.3419+2T>C (n.3419+2T>C) c.*2052+2T>C (n.*2052+2T>C) c.3668+2T>C (n.3668+2T>C) c.3428+2T>C (n.3428+2T>C) c.1979+2T>C (n.1979+2T>C) n.3509+2T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565256A>T | CA356147962 | EVC2 | c.3659+2T>A (n.3659+2T>A) c.3419+2T>A (n.3419+2T>A) c.*2052+2T>A (n.*2052+2T>A) c.3668+2T>A (n.3668+2T>A) c.3428+2T>A (n.3428+2T>A) c.1979+2T>A (n.1979+2T>A) n.3509+2T>A | |
| 4 | g.5565257C>A | CA356147963 | EVC2 | c.3659+1G>T (n.3659+1G>T) c.3419+1G>T (n.3419+1G>T) c.*2052+1G>T (n.*2052+1G>T) c.3668+1G>T (n.3668+1G>T) c.3428+1G>T (n.3428+1G>T) c.1979+1G>T (n.1979+1G>T) n.3509+1G>T | |
| 4 | g.5565257C>G | CA356147964 | EVC2 | c.3659+1G>C (n.3659+1G>C) c.3419+1G>C (n.3419+1G>C) c.*2052+1G>C (n.*2052+1G>C) c.3668+1G>C (n.3668+1G>C) c.3428+1G>C (n.3428+1G>C) c.1979+1G>C (n.1979+1G>C) n.3509+1G>C | |
| 4 | g.5565257C>T | CA356147965 | EVC2 | c.3659+1G>A (n.3659+1G>A) c.3419+1G>A (n.3419+1G>A) c.*2052+1G>A (n.*2052+1G>A) c.3668+1G>A (n.3668+1G>A) c.3428+1G>A (n.3428+1G>A) c.1979+1G>A (n.1979+1G>A) n.3509+1G>A | gnomAD v4 |
| 4 | g.5565258C>A | CA356147967 | EVC2 | c.3659G>T (p.Ser1220Ile) c.3419G>T (p.Ser1140Ile) c.3419G>T (p.Arg1140Met) c.*2052G>T (n.*2052G>T) c.3668G>T (p.Ser1223Ile) c.3668G>T (p.Arg1223Ile) c.3428G>T (p.Ser1143Ile) c.1979G>T (p.Ser660Ile) n.3509G>T | |
| 4 | g.5565258C= | CA1435391961 | EVC2 | c.3659G= (p.Ser1220=) c.3419G= (p.Ser1140=) c.3419G= (p.Arg1140=) c.*2052G= (n.*2052G=) c.3668G= (p.Ser1223=) c.3668G= (p.Arg1223=) c.3428G= (p.Ser1143=) c.1979G= (p.Ser660=) n.3509G= | |
| 4 | g.5565258C>G | CA356147968 | EVC2 | c.3659G>C (p.Ser1220Thr) c.3419G>C (p.Ser1140Thr) c.3419G>C (p.Arg1140Thr) c.*2052G>C (n.*2052G>C) c.3668G>C (p.Ser1223Thr) c.3668G>C (p.Arg1223Thr) c.3428G>C (p.Ser1143Thr) c.1979G>C (p.Ser660Thr) n.3509G>C | |
| 4 | g.5565258C>T | CA356147966 | EVC2 | c.3659G>A (p.Ser1220Asn) c.3419G>A (p.Ser1140Asn) c.3419G>A (p.Arg1140Lys) c.*2052G>A (n.*2052G>A) c.3668G>A (p.Ser1223Asn) c.3668G>A (p.Arg1223Lys) c.3428G>A (p.Ser1143Asn) c.1979G>A (p.Ser660Asn) n.3509G>A | dbSNP |
| 4 | g.5565259T>A | CA356147969 | EVC2 | c.3658A>T (p.Ser1220Cys) c.3418A>T (p.Ser1140Cys) c.3418A>T (p.Arg1140Trp) c.*2051A>T (n.*2051A>T) c.3667A>T (p.Ser1223Cys) c.3667A>T (p.Arg1223Ter) c.3427A>T (p.Ser1143Cys) c.1978A>T (p.Ser660Cys) n.3508A>T | |
| 4 | g.5565259T>C | CA356147970 | EVC2 | c.3658A>G (p.Ser1220Gly) c.3418A>G (p.Ser1140Gly) c.3418A>G (p.Arg1140Gly) c.*2051A>G (n.*2051A>G) c.3667A>G (p.Ser1223Gly) c.3667A>G (p.Arg1223Gly) c.3427A>G (p.Ser1143Gly) c.1978A>G (p.Ser660Gly) n.3508A>G | |
| 4 | g.5565259T>G | CA356147971 | EVC2 | c.3658A>C (p.Ser1220Arg) c.3418A>C (p.Ser1140Arg) c.3418A>C (p.Arg1140=) c.*2051A>C (n.*2051A>C) c.3667A>C (p.Ser1223Arg) c.3667A>C (p.Arg1223=) c.3427A>C (p.Ser1143Arg) c.1978A>C (p.Ser660Arg) n.3508A>C | |
| 4 | g.5565260C>A | CA356147972 | EVC2 | c.3657G>T (p.Gln1219His) c.3417G>T (p.Gln1139His) c.*2050G>T (n.*2050G>T) c.3666G>T (p.Gln1222His) c.3426G>T (p.Gln1142His) c.1977G>T (p.Gln659His) n.3507G>T | |
| 4 | g.5565260C>G | CA356147973 | EVC2 | c.3657G>C (p.Gln1219His) c.3417G>C (p.Gln1139His) c.*2050G>C (n.*2050G>C) c.3666G>C (p.Gln1222His) c.3426G>C (p.Gln1142His) c.1977G>C (p.Gln659His) n.3507G>C | |
| 4 | g.5565260C>T | CA438203138 | EVC2 | c.3657G>A (p.Gln1219=) c.3417G>A (p.Gln1139=) c.*2050G>A (n.*2050G>A) c.3666G>A (p.Gln1222=) c.3426G>A (p.Gln1142=) c.1977G>A (p.Gln659=) n.3507G>A | |
| 4 | g.5565261T>A | CA356147976 | EVC2 | c.3656A>T (p.Gln1219Leu) c.3416A>T (p.Gln1139Leu) c.*2049A>T (n.*2049A>T) c.3665A>T (p.Gln1222Leu) c.3425A>T (p.Gln1142Leu) c.1976A>T (p.Gln659Leu) n.3506A>T | |
| 4 | g.5565261T>C | CA356147975 | EVC2 | c.3656A>G (p.Gln1219Arg) c.3416A>G (p.Gln1139Arg) c.*2049A>G (n.*2049A>G) c.3665A>G (p.Gln1222Arg) c.3425A>G (p.Gln1142Arg) c.1976A>G (p.Gln659Arg) n.3506A>G | |
| 4 | g.5565261T>G | CA356147974 | EVC2 | c.3656A>C (p.Gln1219Pro) c.3416A>C (p.Gln1139Pro) c.*2049A>C (n.*2049A>C) c.3665A>C (p.Gln1222Pro) c.3425A>C (p.Gln1142Pro) c.1976A>C (p.Gln659Pro) n.3506A>C | |
| 4 | g.5565262G>A | CA2834239 | EVC2 | c.3655C>T (p.Gln1219Ter) c.3415C>T (p.Gln1139Ter) c.*2048C>T (n.*2048C>T) c.3664C>T (p.Gln1222Ter) c.3424C>T (p.Gln1142Ter) c.1975C>T (p.Gln659Ter) n.3505C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 4 | g.5565262G>C | CA356147977 | EVC2 | c.3655C>G (p.Gln1219Glu) c.3415C>G (p.Gln1139Glu) c.*2048C>G (n.*2048C>G) c.3664C>G (p.Gln1222Glu) c.3424C>G (p.Gln1142Glu) c.1975C>G (p.Gln659Glu) n.3505C>G | |
| 4 | g.5565262G= | CA1435391962 | EVC2 | c.3655C= (p.Gln1219=) c.3415C= (p.Gln1139=) c.*2048C= (n.*2048C=) c.3664C= (p.Gln1222=) c.3424C= (p.Gln1142=) c.1975C= (p.Gln659=) n.3505C= | |
| 4 | g.5565262G>T | CA356147978 | EVC2 | c.3655C>A (p.Gln1219Lys) c.3415C>A (p.Gln1139Lys) c.*2048C>A (n.*2048C>A) c.3664C>A (p.Gln1222Lys) c.3424C>A (p.Gln1142Lys) c.1975C>A (p.Gln659Lys) n.3505C>A | |
| 4 | g.5565263C>A | CA356147979 | EVC2 | c.3654G>T (p.Lys1218Asn) c.3414G>T (p.Lys1138Asn) c.*2047G>T (n.*2047G>T) c.3663G>T (p.Lys1221Asn) c.3423G>T (p.Lys1141Asn) c.1974G>T (p.Lys658Asn) n.3504G>T | |
| 4 | g.5565263C= | CA1435391963 | EVC2 | c.3654G= (p.Lys1218=) c.3414G= (p.Lys1138=) c.*2047G= (n.*2047G=) c.3663G= (p.Lys1221=) c.3423G= (p.Lys1141=) c.1974G= (p.Lys658=) n.3504G= | |
| 4 | g.5565263C>G | CA356147980 | EVC2 | c.3654G>C (p.Lys1218Asn) c.3414G>C (p.Lys1138Asn) c.*2047G>C (n.*2047G>C) c.3663G>C (p.Lys1221Asn) c.3423G>C (p.Lys1141Asn) c.1974G>C (p.Lys658Asn) n.3504G>C | |
| 4 | g.5565263C>T | CA2834240 | EVC2 | c.3654G>A (p.Lys1218=) c.3414G>A (p.Lys1138=) c.*2047G>A (n.*2047G>A) c.3663G>A (p.Lys1221=) c.3423G>A (p.Lys1141=) c.1974G>A (p.Lys658=) n.3504G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565264T>A | CA356147981 | EVC2 | c.3653A>T (p.Lys1218Met) c.3413A>T (p.Lys1138Met) c.*2046A>T (n.*2046A>T) c.3662A>T (p.Lys1221Met) c.3422A>T (p.Lys1141Met) c.1973A>T (p.Lys658Met) n.3503A>T | |
| 4 | g.5565264T>C | CA356147983 | EVC2 | c.3653A>G (p.Lys1218Arg) c.3413A>G (p.Lys1138Arg) c.*2046A>G (n.*2046A>G) c.3662A>G (p.Lys1221Arg) c.3422A>G (p.Lys1141Arg) c.1973A>G (p.Lys658Arg) n.3503A>G | dbSNP gnomAD v4 |
| 4 | g.5565264T>G | CA356147982 | EVC2 | c.3653A>C (p.Lys1218Thr) c.3413A>C (p.Lys1138Thr) c.*2046A>C (n.*2046A>C) c.3662A>C (p.Lys1221Thr) c.3422A>C (p.Lys1141Thr) c.1973A>C (p.Lys658Thr) n.3503A>C | |
| 4 | g.5565264T= | CA1435391964 | EVC2 | c.3653A= (p.Lys1218=) c.3413A= (p.Lys1138=) c.*2046A= (n.*2046A=) c.3662A= (p.Lys1221=) c.3422A= (p.Lys1141=) c.1973A= (p.Lys658=) n.3503A= | |
| 4 | g.5565265T>A | CA356147984 | EVC2 | c.3652A>T (p.Lys1218Ter) c.3412A>T (p.Lys1138Ter) c.*2045A>T (n.*2045A>T) c.3661A>T (p.Lys1221Ter) c.3421A>T (p.Lys1141Ter) c.1972A>T (p.Lys658Ter) n.3502A>T | |
| 4 | g.5565265T>C | CA356147985 | EVC2 | c.3652A>G (p.Lys1218Glu) c.3412A>G (p.Lys1138Glu) c.*2045A>G (n.*2045A>G) c.3661A>G (p.Lys1221Glu) c.3421A>G (p.Lys1141Glu) c.1972A>G (p.Lys658Glu) n.3502A>G | |
| 4 | g.5565265T>G | CA356147986 | EVC2 | c.3652A>C (p.Lys1218Gln) c.3412A>C (p.Lys1138Gln) c.*2045A>C (n.*2045A>C) c.3661A>C (p.Lys1221Gln) c.3421A>C (p.Lys1141Gln) c.1972A>C (p.Lys658Gln) n.3502A>C | |
| 4 | g.5565266T>A | CA356147987 | EVC2 | c.3651A>T (p.Arg1217Ser) c.3411A>T (p.Arg1137Ser) c.*2044A>T (n.*2044A>T) c.3660A>T (p.Arg1220Ser) c.3420A>T (p.Arg1140Ser) c.1971A>T (p.Arg657Ser) n.3501A>T | |
| 4 | g.5565266T>C | CA91688665 | EVC2 | c.3651A>G (p.Arg1217=) c.3411A>G (p.Arg1137=) c.*2044A>G (n.*2044A>G) c.3660A>G (p.Arg1220=) c.3420A>G (p.Arg1140=) c.1971A>G (p.Arg657=) n.3501A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565266T>G | CA356147988 | EVC2 | c.3651A>C (p.Arg1217Ser) c.3411A>C (p.Arg1137Ser) c.*2044A>C (n.*2044A>C) c.3660A>C (p.Arg1220Ser) c.3420A>C (p.Arg1140Ser) c.1971A>C (p.Arg657Ser) n.3501A>C | |
| 4 | g.5565266T= | CA1435391965 | EVC2 | c.3651A= (p.Arg1217=) c.3411A= (p.Arg1137=) c.*2044A= (n.*2044A=) c.3660A= (p.Arg1220=) c.3420A= (p.Arg1140=) c.1971A= (p.Arg657=) n.3501A= | |
| 4 | g.5565267C>A | CA356147989 | EVC2 | c.3650G>T (p.Arg1217Ile) c.3410G>T (p.Arg1137Ile) c.*2043G>T (n.*2043G>T) c.3659G>T (p.Arg1220Ile) c.3419G>T (p.Arg1140Ile) c.1970G>T (p.Arg657Ile) n.3500G>T | COSMIC COSMIC |
| 4 | g.5565267C= | CA1435391966 | EVC2 | c.3650G= (p.Arg1217=) c.3410G= (p.Arg1137=) c.*2043G= (n.*2043G=) c.3659G= (p.Arg1220=) c.3419G= (p.Arg1140=) c.1970G= (p.Arg657=) n.3500G= | |
| 4 | g.5565267C>G | CA356147990 | EVC2 | c.3650G>C (p.Arg1217Thr) c.3410G>C (p.Arg1137Thr) c.*2043G>C (n.*2043G>C) c.3659G>C (p.Arg1220Thr) c.3419G>C (p.Arg1140Thr) c.1970G>C (p.Arg657Thr) n.3500G>C | dbSNP gnomAD v2 |
| 4 | g.5565267C>T | CA356147991 | EVC2 | c.3650G>A (p.Arg1217Lys) c.3410G>A (p.Arg1137Lys) c.*2043G>A (n.*2043G>A) c.3659G>A (p.Arg1220Lys) c.3419G>A (p.Arg1140Lys) c.1970G>A (p.Arg657Lys) n.3500G>A | |
| 4 | g.5565268T>A | CA356147992 | EVC2 | c.3649A>T (p.Arg1217Ter) c.3409A>T (p.Arg1137Ter) c.*2042A>T (n.*2042A>T) c.3658A>T (p.Arg1220Ter) c.3418A>T (p.Arg1140Ter) c.1969A>T (p.Arg657Ter) n.3499A>T | |
| 4 | g.5565268T>C | CA356147993 | EVC2 | c.3649A>G (p.Arg1217Gly) c.3409A>G (p.Arg1137Gly) c.*2042A>G (n.*2042A>G) c.3658A>G (p.Arg1220Gly) c.3418A>G (p.Arg1140Gly) c.1969A>G (p.Arg657Gly) n.3499A>G | |
| 4 | g.5565268T>G | CA438203139 | EVC2 | c.3649A>C (p.Arg1217=) c.3409A>C (p.Arg1137=) c.*2042A>C (n.*2042A>C) c.3658A>C (p.Arg1220=) c.3418A>C (p.Arg1140=) c.1969A>C (p.Arg657=) n.3499A>C | |
| 4 | g.5565268_5565269delinsAA | CA2573138244 | EVC2 | c.3648_3649delinsTT (p.Lys1216AsnfsTer2) c.3408_3409delinsTT (p.Lys1136AsnfsTer2) c.*2041_*2042delinsTT (n.*2041_*2042delinsTT) c.3657_3658delinsTT (p.Lys1219AsnfsTer2) c.3417_3418delinsTT (p.Lys1139AsnfsTer2) c.1968_1969delinsTT (p.Lys656AsnfsTer2) n.3498_3499delinsTT | ClinVar dbSNP |
| 4 | g.5565269C>A | CA356147994 | EVC2 | c.3648G>T (p.Lys1216Asn) c.3408G>T (p.Lys1136Asn) c.*2041G>T (n.*2041G>T) c.3657G>T (p.Lys1219Asn) c.3417G>T (p.Lys1139Asn) c.1968G>T (p.Lys656Asn) n.3498G>T |