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 |
|---|---|---|---|---|---|
| 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 | |
| 4 | g.5565269C>G | CA356147995 | EVC2 | c.3648G>C (p.Lys1216Asn) c.3408G>C (p.Lys1136Asn) c.*2041G>C (n.*2041G>C) c.3657G>C (p.Lys1219Asn) c.3417G>C (p.Lys1139Asn) c.1968G>C (p.Lys656Asn) n.3498G>C | |
| 4 | g.5565269C>T | CA438203140 | EVC2 | c.3648G>A (p.Lys1216=) c.3408G>A (p.Lys1136=) c.*2041G>A (n.*2041G>A) c.3657G>A (p.Lys1219=) c.3417G>A (p.Lys1139=) c.1968G>A (p.Lys656=) n.3498G>A | |
| 4 | g.5565270T>A | CA356147997 | EVC2 | c.3647A>T (p.Lys1216Met) c.3407A>T (p.Lys1136Met) c.*2040A>T (n.*2040A>T) c.3656A>T (p.Lys1219Met) c.3416A>T (p.Lys1139Met) c.1967A>T (p.Lys656Met) n.3497A>T | |
| 4 | g.5565270T>C | CA356147998 | EVC2 | c.3647A>G (p.Lys1216Arg) c.3407A>G (p.Lys1136Arg) c.*2040A>G (n.*2040A>G) c.3656A>G (p.Lys1219Arg) c.3416A>G (p.Lys1139Arg) c.1967A>G (p.Lys656Arg) n.3497A>G | |
| 4 | g.5565270T>G | CA356147996 | EVC2 | c.3647A>C (p.Lys1216Thr) c.3407A>C (p.Lys1136Thr) c.*2040A>C (n.*2040A>C) c.3656A>C (p.Lys1219Thr) c.3416A>C (p.Lys1139Thr) c.1967A>C (p.Lys656Thr) n.3497A>C | |
| 4 | g.5565271T>A | CA356148000 | EVC2 | c.3646A>T (p.Lys1216Ter) c.3406A>T (p.Lys1136Ter) c.*2039A>T (n.*2039A>T) c.3655A>T (p.Lys1219Ter) c.3415A>T (p.Lys1139Ter) c.1966A>T (p.Lys656Ter) n.3496A>T | |
| 4 | g.5565271T>C | CA356147999 | EVC2 | c.3646A>G (p.Lys1216Glu) c.3406A>G (p.Lys1136Glu) c.*2039A>G (n.*2039A>G) c.3655A>G (p.Lys1219Glu) c.3415A>G (p.Lys1139Glu) c.1966A>G (p.Lys656Glu) n.3496A>G | |
| 4 | g.5565271T>G | CA91688669 | EVC2 | c.3646A>C (p.Lys1216Gln) c.3406A>C (p.Lys1136Gln) c.*2039A>C (n.*2039A>C) c.3655A>C (p.Lys1219Gln) c.3415A>C (p.Lys1139Gln) c.1966A>C (p.Lys656Gln) n.3496A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565271T= | CA1435391967 | EVC2 | c.3646A= (p.Lys1216=) c.3406A= (p.Lys1136=) c.*2039A= (n.*2039A=) c.3655A= (p.Lys1219=) c.3415A= (p.Lys1139=) c.1966A= (p.Lys656=) n.3496A= | |
| 4 | g.5565272G>A | CA438203141 | EVC2 | c.3645C>T (p.Arg1215=) c.3405C>T (p.Arg1135=) c.*2038C>T (n.*2038C>T) c.3654C>T (p.Arg1218=) c.3414C>T (p.Arg1138=) c.1965C>T (p.Arg655=) n.3495C>T | COSMIC COSMIC |
| 4 | g.5565272G>C | CA438203142 | EVC2 | c.3645C>G (p.Arg1215=) c.3405C>G (p.Arg1135=) c.*2038C>G (n.*2038C>G) c.3654C>G (p.Arg1218=) c.3414C>G (p.Arg1138=) c.1965C>G (p.Arg655=) n.3495C>G | |
| 4 | g.5565272G= | CA1435391968 | EVC2 | c.3645C= (p.Arg1215=) c.3405C= (p.Arg1135=) c.*2038C= (n.*2038C=) c.3654C= (p.Arg1218=) c.3414C= (p.Arg1138=) c.1965C= (p.Arg655=) n.3495C= | |
| 4 | g.5565272G>T | CA438203143 | EVC2 | c.3645C>A (p.Arg1215=) c.3405C>A (p.Arg1135=) c.*2038C>A (n.*2038C>A) c.3654C>A (p.Arg1218=) c.3414C>A (p.Arg1138=) c.1965C>A (p.Arg655=) n.3495C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565273C>A | CA356148001 | EVC2 | c.3644G>T (p.Arg1215Leu) c.3404G>T (p.Arg1135Leu) c.*2037G>T (n.*2037G>T) c.3653G>T (p.Arg1218Leu) c.3413G>T (p.Arg1138Leu) c.1964G>T (p.Arg655Leu) n.3494G>T | |
| 4 | g.5565273C= | CA1435391969 | EVC2 | c.3644G= (p.Arg1215=) c.3404G= (p.Arg1135=) c.*2037G= (n.*2037G=) c.3653G= (p.Arg1218=) c.3413G= (p.Arg1138=) c.1964G= (p.Arg655=) n.3494G= | |
| 4 | g.5565273C>G | CA356148002 | EVC2 | c.3644G>C (p.Arg1215Pro) c.3404G>C (p.Arg1135Pro) c.*2037G>C (n.*2037G>C) c.3653G>C (p.Arg1218Pro) c.3413G>C (p.Arg1138Pro) c.1964G>C (p.Arg655Pro) n.3494G>C | |
| 4 | g.5565273C>T | CA2834241 | EVC2 | c.3644G>A (p.Arg1215His) c.3404G>A (p.Arg1135His) c.*2037G>A (n.*2037G>A) c.3653G>A (p.Arg1218His) c.3413G>A (p.Arg1138His) c.1964G>A (p.Arg655His) n.3494G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5565274G>A | CA2834243 | EVC2 | c.3643C>T (p.Arg1215Cys) c.3403C>T (p.Arg1135Cys) c.*2036C>T (n.*2036C>T) c.3652C>T (p.Arg1218Cys) c.3412C>T (p.Arg1138Cys) c.1963C>T (p.Arg655Cys) n.3493C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.5565274G>C | CA2834242 | EVC2 | c.3643C>G (p.Arg1215Gly) c.3403C>G (p.Arg1135Gly) c.*2036C>G (n.*2036C>G) c.3652C>G (p.Arg1218Gly) c.3412C>G (p.Arg1138Gly) c.1963C>G (p.Arg655Gly) n.3493C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.5565274G= | CA1435391970 | EVC2 | c.3643C= (p.Arg1215=) c.3403C= (p.Arg1135=) c.*2036C= (n.*2036C=) c.3652C= (p.Arg1218=) c.3412C= (p.Arg1138=) c.1963C= (p.Arg655=) n.3493C= | |
| 4 | g.5565274G>T | CA356148003 | EVC2 | c.3643C>A (p.Arg1215Ser) c.3403C>A (p.Arg1135Ser) c.*2036C>A (n.*2036C>A) c.3652C>A (p.Arg1218Ser) c.3412C>A (p.Arg1138Ser) c.1963C>A (p.Arg655Ser) n.3493C>A | dbSNP gnomAD v4 |
| 4 | g.5565275G>A | CA438203144 | EVC2 | c.3642C>T (p.Ala1214=) c.3402C>T (p.Ala1134=) c.*2035C>T (n.*2035C>T) c.3651C>T (p.Ala1217=) c.3411C>T (p.Ala1137=) c.1962C>T (p.Ala654=) n.3492C>T | ClinVar |
| 4 | g.5565275G>C | CA438203145 | EVC2 | c.3642C>G (p.Ala1214=) c.3402C>G (p.Ala1134=) c.*2035C>G (n.*2035C>G) c.3651C>G (p.Ala1217=) c.3411C>G (p.Ala1137=) c.1962C>G (p.Ala654=) n.3492C>G | ClinVar |
| 4 | g.5565275G>T | CA438203146 | EVC2 | c.3642C>A (p.Ala1214=) c.3402C>A (p.Ala1134=) c.*2035C>A (n.*2035C>A) c.3651C>A (p.Ala1217=) c.3411C>A (p.Ala1137=) c.1962C>A (p.Ala654=) n.3492C>A | |
| 4 | g.5565276G>A | CA356148004 | EVC2 | c.3641C>T (p.Ala1214Val) c.3401C>T (p.Ala1134Val) c.*2034C>T (n.*2034C>T) c.3650C>T (p.Ala1217Val) c.3410C>T (p.Ala1137Val) c.1961C>T (p.Ala654Val) n.3491C>T | |
| 4 | g.5565276G>C | CA356148005 | EVC2 | c.3641C>G (p.Ala1214Gly) c.3401C>G (p.Ala1134Gly) c.*2034C>G (n.*2034C>G) c.3650C>G (p.Ala1217Gly) c.3410C>G (p.Ala1137Gly) c.1961C>G (p.Ala654Gly) n.3491C>G | |
| 4 | g.5565276G>T | CA356148006 | EVC2 | c.3641C>A (p.Ala1214Asp) c.3401C>A (p.Ala1134Asp) c.*2034C>A (n.*2034C>A) c.3650C>A (p.Ala1217Asp) c.3410C>A (p.Ala1137Asp) c.1961C>A (p.Ala654Asp) n.3491C>A | |
| 4 | g.5565276_5565277delinsGC | CA1435391971 | EVC2 | c.3640_3641delinsGC (p.Ala1214=) c.3400_3401delinsGC (p.Ala1134=) c.*2033_*2034delinsGC (n.*2033_*2034delinsGC) c.3649_3650delinsGC (p.Ala1217=) c.3409_3410delinsGC (p.Ala1137=) c.1960_1961delinsGC (p.Ala654=) n.3490_3491delinsGC | |
| 4 | g.5565277C>A | CA356148007 | EVC2 | c.3640G>T (p.Ala1214Ser) c.3400G>T (p.Ala1134Ser) c.*2033G>T (n.*2033G>T) c.3649G>T (p.Ala1217Ser) c.3409G>T (p.Ala1137Ser) c.1960G>T (p.Ala654Ser) n.3490G>T | |
| 4 | g.5565277C>G | CA356148008 | EVC2 | c.3640G>C (p.Ala1214Pro) c.3400G>C (p.Ala1134Pro) c.*2033G>C (n.*2033G>C) c.3649G>C (p.Ala1217Pro) c.3409G>C (p.Ala1137Pro) c.1960G>C (p.Ala654Pro) n.3490G>C | gnomAD v4 |
| 4 | g.5565277C>T | CA356148009 | EVC2 | c.3640G>A (p.Ala1214Thr) c.3400G>A (p.Ala1134Thr) c.*2033G>A (n.*2033G>A) c.3649G>A (p.Ala1217Thr) c.3409G>A (p.Ala1137Thr) c.1960G>A (p.Ala654Thr) n.3490G>A | gnomAD v4 |
| 4 | g.5565279del | CA915944121 | EVC2 | c.3640del (p.Ala1214ProfsTer9) c.3400del (p.Ala1134ProfsTer9) c.3400del (p.Ala1134ProfsTer19) c.*2033del (n.*2033del) c.3649del (p.Ala1217ProfsTer9) c.3649del (p.Ala1217ProfsTer16) c.3409del (p.Ala1137ProfsTer9) c.1960del (p.Ala654ProfsTer9) n.3490del | ClinVar dbSNP |
| 4 | g.5565278C>A | CA356148012 | EVC2 | c.3639G>T (p.Trp1213Cys) c.3399G>T (p.Trp1133Cys) c.*2032G>T (n.*2032G>T) c.3648G>T (p.Trp1216Cys) c.3408G>T (p.Trp1136Cys) c.1959G>T (p.Trp653Cys) n.3489G>T | COSMIC COSMIC |
| 4 | g.5565278C>G | CA356148011 | EVC2 | c.3639G>C (p.Trp1213Cys) c.3399G>C (p.Trp1133Cys) c.*2032G>C (n.*2032G>C) c.3648G>C (p.Trp1216Cys) c.3408G>C (p.Trp1136Cys) c.1959G>C (p.Trp653Cys) n.3489G>C | |
| 4 | g.5565278C>T | CA356148010 | EVC2 | c.3639G>A (p.Trp1213Ter) c.3399G>A (p.Trp1133Ter) c.*2032G>A (n.*2032G>A) c.3648G>A (p.Trp1216Ter) c.3408G>A (p.Trp1136Ter) c.1959G>A (p.Trp653Ter) n.3489G>A | |
| 4 | g.5565279C>A | CA356148013 | EVC2 | c.3638G>T (p.Trp1213Leu) c.3398G>T (p.Trp1133Leu) c.*2031G>T (n.*2031G>T) c.3647G>T (p.Trp1216Leu) c.3407G>T (p.Trp1136Leu) c.1958G>T (p.Trp653Leu) n.3488G>T | |
| 4 | g.5565279C= | CA1435391972 | EVC2 | c.3638G= (p.Trp1213=) c.3398G= (p.Trp1133=) c.*2031G= (n.*2031G=) c.3647G= (p.Trp1216=) c.3407G= (p.Trp1136=) c.1958G= (p.Trp653=) n.3488G= | |
| 4 | g.5565279C>G | CA356148014 | EVC2 | c.3638G>C (p.Trp1213Ser) c.3398G>C (p.Trp1133Ser) c.*2031G>C (n.*2031G>C) c.3647G>C (p.Trp1216Ser) c.3407G>C (p.Trp1136Ser) c.1958G>C (p.Trp653Ser) n.3488G>C | |
| 4 | g.5565279C>T | CA356148015 | EVC2 | c.3638G>A (p.Trp1213Ter) c.3398G>A (p.Trp1133Ter) c.*2031G>A (n.*2031G>A) c.3647G>A (p.Trp1216Ter) c.3407G>A (p.Trp1136Ter) c.1958G>A (p.Trp653Ter) n.3488G>A | |
| 4 | g.5565280A>C | CA356148016 | EVC2 | c.3637T>G (p.Trp1213Gly) c.3397T>G (p.Trp1133Gly) c.*2030T>G (n.*2030T>G) c.3646T>G (p.Trp1216Gly) c.3406T>G (p.Trp1136Gly) c.1957T>G (p.Trp653Gly) n.3487T>G | |
| 4 | g.5565280A>G | CA356148017 | EVC2 | c.3637T>C (p.Trp1213Arg) c.3397T>C (p.Trp1133Arg) c.*2030T>C (n.*2030T>C) c.3646T>C (p.Trp1216Arg) c.3406T>C (p.Trp1136Arg) c.1957T>C (p.Trp653Arg) n.3487T>C | |
| 4 | g.5565280A>T | CA356148018 | EVC2 | c.3637T>A (p.Trp1213Arg) c.3397T>A (p.Trp1133Arg) c.*2030T>A (n.*2030T>A) c.3646T>A (p.Trp1216Arg) c.3406T>A (p.Trp1136Arg) c.1957T>A (p.Trp653Arg) n.3487T>A | |
| 4 | g.5565280_5565281insAA | CA549394919 | EVC2 | c.3637_3638insTT (p.Trp1213PhefsTer11) c.3397_3398insTT (p.Trp1133PhefsTer11) c.3397_3398insTT (p.Trp1133PhefsTer21) c.*2030_*2031insTT (n.*2030_*2031insTT) c.3646_3647insTT (p.Trp1216PhefsTer11) c.3646_3647insTT (p.Trp1216PhefsTer18) c.3406_3407insTT (p.Trp1136PhefsTer11) c.1957_1958insTT (p.Trp653PhefsTer11) n.3487_3488insTT | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565281C>A | CA438203147 | EVC2 | c.3636G>T (p.Leu1212=) c.3396G>T (p.Leu1132=) c.*2029G>T (n.*2029G>T) c.3645G>T (p.Leu1215=) c.3405G>T (p.Leu1135=) c.1956G>T (p.Leu652=) n.3486G>T | COSMIC COSMIC |
| 4 | g.5565281C= | CA1435391973 | EVC2 | c.3636G= (p.Leu1212=) c.3396G= (p.Leu1132=) c.*2029G= (n.*2029G=) c.3645G= (p.Leu1215=) c.3405G= (p.Leu1135=) c.1956G= (p.Leu652=) n.3486G= | |
| 4 | g.5565281C>G | CA2834244 | EVC2 | c.3636G>C (p.Leu1212=) c.3396G>C (p.Leu1132=) c.*2029G>C (n.*2029G>C) c.3645G>C (p.Leu1215=) c.3405G>C (p.Leu1135=) c.1956G>C (p.Leu652=) n.3486G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565281C>T | CA438203148 | EVC2 | c.3636G>A (p.Leu1212=) c.3396G>A (p.Leu1132=) c.*2029G>A (n.*2029G>A) c.3645G>A (p.Leu1215=) c.3405G>A (p.Leu1135=) c.1956G>A (p.Leu652=) n.3486G>A | gnomAD v4 |
| 4 | g.5565282A= | CA1435391974 | EVC2 | c.3635T= (p.Leu1212=) c.3395T= (p.Leu1132=) c.*2028T= (n.*2028T=) c.3644T= (p.Leu1215=) c.3404T= (p.Leu1135=) c.1955T= (p.Leu652=) n.3485T= | |
| 4 | g.5565282A>C | CA356148019 | EVC2 | c.3635T>G (p.Leu1212Arg) c.3395T>G (p.Leu1132Arg) c.*2028T>G (n.*2028T>G) c.3644T>G (p.Leu1215Arg) c.3404T>G (p.Leu1135Arg) c.1955T>G (p.Leu652Arg) n.3485T>G | |
| 4 | g.5565282A>G | CA356148020 | EVC2 | c.3635T>C (p.Leu1212Pro) c.3395T>C (p.Leu1132Pro) c.*2028T>C (n.*2028T>C) c.3644T>C (p.Leu1215Pro) c.3404T>C (p.Leu1135Pro) c.1955T>C (p.Leu652Pro) n.3485T>C | gnomAD v4 |
| 4 | g.5565282A>T | CA356148021 | EVC2 | c.3635T>A (p.Leu1212Gln) c.3395T>A (p.Leu1132Gln) c.*2028T>A (n.*2028T>A) c.3644T>A (p.Leu1215Gln) c.3404T>A (p.Leu1135Gln) c.1955T>A (p.Leu652Gln) n.3485T>A | |
| 4 | g.5565282_5565283delinsAG | CA1435391975 | EVC2 | c.3634_3635delinsCT (p.Leu1212=) c.3394_3395delinsCT (p.Leu1132=) c.*2027_*2028delinsCT (n.*2027_*2028delinsCT) c.3643_3644delinsCT (p.Leu1215=) c.3403_3404delinsCT (p.Leu1135=) c.1954_1955delinsCT (p.Leu652=) n.3484_3485delinsCT | |
| 4 | g.5565282_5565283insT | CA549394921 | EVC2 | c.3634_3635insA (p.Leu1212HisfsTer?) c.3394_3395insA (p.Leu1132HisfsTer?) c.3394_3395insA (p.Leu1132HisfsTer30) c.*2027_*2028insA (n.*2027_*2028insA) c.3643_3644insA (p.Leu1215HisfsTer?) c.3643_3644insA (p.Leu1215HisfsTer13) c.3403_3404insA (p.Leu1135HisfsTer?) c.1954_1955insA (p.Leu652HisfsTer?) n.3484_3485insA | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565283G>A | CA438203149 | EVC2 | c.3634C>T (p.Leu1212=) c.3394C>T (p.Leu1132=) c.*2027C>T (n.*2027C>T) c.3643C>T (p.Leu1215=) c.3403C>T (p.Leu1135=) c.1954C>T (p.Leu652=) n.3484C>T | ClinVar dbSNP COSMIC COSMIC |
| 4 | g.5565283G>C | CA356148022 | EVC2 | c.3634C>G (p.Leu1212Val) c.3394C>G (p.Leu1132Val) c.*2027C>G (n.*2027C>G) c.3643C>G (p.Leu1215Val) c.3403C>G (p.Leu1135Val) c.1954C>G (p.Leu652Val) n.3484C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565283G= | CA1435391976 | EVC2 | c.3634C= (p.Leu1212=) c.3394C= (p.Leu1132=) c.*2027C= (n.*2027C=) c.3643C= (p.Leu1215=) c.3403C= (p.Leu1135=) c.1954C= (p.Leu652=) n.3484C= | |
| 4 | g.5565283G>T | CA356148023 | EVC2 | c.3634C>A (p.Leu1212Met) c.3394C>A (p.Leu1132Met) c.*2027C>A (n.*2027C>A) c.3643C>A (p.Leu1215Met) c.3403C>A (p.Leu1135Met) c.1954C>A (p.Leu652Met) n.3484C>A | dbSNP COSMIC |
| 4 | g.5565283delinsTC | CA658657377 | EVC2 | c.3634delinsGA (p.Leu1212AspfsTer?) c.3394delinsGA (p.Leu1132AspfsTer?) c.3394delinsGA (p.Leu1132AspfsTer30) c.*2027delinsGA (n.*2027delinsGA) c.3643delinsGA (p.Leu1215AspfsTer?) c.3643delinsGA (p.Leu1215AspfsTer13) c.3403delinsGA (p.Leu1135AspfsTer?) c.1954delinsGA (p.Leu652AspfsTer?) n.3484delinsGA | ClinVar dbSNP |
| 4 | g.5565284C>A | CA356148026 | EVC2 | c.3633G>T (p.Met1211Ile) c.3393G>T (p.Met1131Ile) c.*2026G>T (n.*2026G>T) c.3642G>T (p.Met1214Ile) c.3402G>T (p.Met1134Ile) c.1953G>T (p.Met651Ile) n.3483G>T | |
| 4 | g.5565284C>G | CA356148025 | EVC2 | c.3633G>C (p.Met1211Ile) c.3393G>C (p.Met1131Ile) c.*2026G>C (n.*2026G>C) c.3642G>C (p.Met1214Ile) c.3402G>C (p.Met1134Ile) c.1953G>C (p.Met651Ile) n.3483G>C | |
| 4 | g.5565284C>T | CA356148024 | EVC2 | c.3633G>A (p.Met1211Ile) c.3393G>A (p.Met1131Ile) c.*2026G>A (n.*2026G>A) c.3642G>A (p.Met1214Ile) c.3402G>A (p.Met1134Ile) c.1953G>A (p.Met651Ile) n.3483G>A | |
| 4 | g.5565285A>C | CA356148027 | EVC2 | c.3632T>G (p.Met1211Arg) c.3392T>G (p.Met1131Arg) c.*2025T>G (n.*2025T>G) c.3641T>G (p.Met1214Arg) c.3401T>G (p.Met1134Arg) c.1952T>G (p.Met651Arg) n.3482T>G | |
| 4 | g.5565285A>G | CA356148028 | EVC2 | c.3632T>C (p.Met1211Thr) c.3392T>C (p.Met1131Thr) c.*2025T>C (n.*2025T>C) c.3641T>C (p.Met1214Thr) c.3401T>C (p.Met1134Thr) c.1952T>C (p.Met651Thr) n.3482T>C | gnomAD v4 |
| 4 | g.5565285A>T | CA356148029 | EVC2 | c.3632T>A (p.Met1211Lys) c.3392T>A (p.Met1131Lys) c.*2025T>A (n.*2025T>A) c.3641T>A (p.Met1214Lys) c.3401T>A (p.Met1134Lys) c.1952T>A (p.Met651Lys) n.3482T>A | |
| 4 | g.5565286T>A | CA356148030 | EVC2 | c.3631A>T (p.Met1211Leu) c.3391A>T (p.Met1131Leu) c.*2024A>T (n.*2024A>T) c.3640A>T (p.Met1214Leu) c.3400A>T (p.Met1134Leu) c.1951A>T (p.Met651Leu) n.3481A>T | gnomAD v4 |
| 4 | g.5565286T>C | CA356148031 | EVC2 | c.3631A>G (p.Met1211Val) c.3391A>G (p.Met1131Val) c.*2024A>G (n.*2024A>G) c.3640A>G (p.Met1214Val) c.3400A>G (p.Met1134Val) c.1951A>G (p.Met651Val) n.3481A>G | gnomAD v4 |
| 4 | g.5565286T>G | CA356148032 | EVC2 | c.3631A>C (p.Met1211Leu) c.3391A>C (p.Met1131Leu) c.*2024A>C (n.*2024A>C) c.3640A>C (p.Met1214Leu) c.3400A>C (p.Met1134Leu) c.1951A>C (p.Met651Leu) n.3481A>C | |
| 4 | g.5565287C>A | CA356148034 | EVC2 | c.3630G>T (p.Lys1210Asn) c.3390G>T (p.Lys1130Asn) c.*2023G>T (n.*2023G>T) c.3639G>T (p.Lys1213Asn) c.3399G>T (p.Lys1133Asn) c.1950G>T (p.Lys650Asn) n.3480G>T | dbSNP |
| 4 | g.5565287C= | CA1435391977 | EVC2 | c.3630G= (p.Lys1210=) c.3390G= (p.Lys1130=) c.*2023G= (n.*2023G=) c.3639G= (p.Lys1213=) c.3399G= (p.Lys1133=) c.1950G= (p.Lys650=) n.3480G= | |
| 4 | g.5565287C>G | CA356148033 | EVC2 | c.3630G>C (p.Lys1210Asn) c.3390G>C (p.Lys1130Asn) c.*2023G>C (n.*2023G>C) c.3639G>C (p.Lys1213Asn) c.3399G>C (p.Lys1133Asn) c.1950G>C (p.Lys650Asn) n.3480G>C | |
| 4 | g.5565287C>T | CA438203150 | EVC2 | c.3630G>A (p.Lys1210=) c.3390G>A (p.Lys1130=) c.*2023G>A (n.*2023G>A) c.3639G>A (p.Lys1213=) c.3399G>A (p.Lys1133=) c.1950G>A (p.Lys650=) n.3480G>A | COSMIC COSMIC |
| 4 | g.5565288T>A | CA356148035 | EVC2 | c.3629A>T (p.Lys1210Met) c.3389A>T (p.Lys1130Met) c.*2022A>T (n.*2022A>T) c.3638A>T (p.Lys1213Met) c.3398A>T (p.Lys1133Met) c.1949A>T (p.Lys650Met) n.3479A>T | |
| 4 | g.5565288T>C | CA356148036 | EVC2 | c.3629A>G (p.Lys1210Arg) c.3389A>G (p.Lys1130Arg) c.*2022A>G (n.*2022A>G) c.3638A>G (p.Lys1213Arg) c.3398A>G (p.Lys1133Arg) c.1949A>G (p.Lys650Arg) n.3479A>G | gnomAD v4 |
| 4 | g.5565288T>G | CA356148037 | EVC2 | c.3629A>C (p.Lys1210Thr) c.3389A>C (p.Lys1130Thr) c.*2022A>C (n.*2022A>C) c.3638A>C (p.Lys1213Thr) c.3398A>C (p.Lys1133Thr) c.1949A>C (p.Lys650Thr) n.3479A>C | |
| 4 | g.5565291del | CA645515450 | EVC2 | c.3629del (p.Lys1210ArgfsTer13) c.3389del (p.Lys1130ArgfsTer13) c.3389del (p.Lys1130ArgfsTer23) c.*2022del (n.*2022del) c.3638del (p.Lys1213ArgfsTer13) c.3638del (p.Lys1213ArgfsTer20) c.3398del (p.Lys1133ArgfsTer13) c.1949del (p.Lys650ArgfsTer13) n.3479del | COSMIC COSMIC |
| 4 | g.5565289T>A | CA356148038 | EVC2 | c.3628A>T (p.Lys1210Ter) c.3388A>T (p.Lys1130Ter) c.*2021A>T (n.*2021A>T) c.3637A>T (p.Lys1213Ter) c.3397A>T (p.Lys1133Ter) c.1948A>T (p.Lys650Ter) n.3478A>T | |
| 4 | g.5565289T>C | CA356148039 | EVC2 | c.3628A>G (p.Lys1210Glu) c.3388A>G (p.Lys1130Glu) c.*2021A>G (n.*2021A>G) c.3637A>G (p.Lys1213Glu) c.3397A>G (p.Lys1133Glu) c.1948A>G (p.Lys650Glu) n.3478A>G | |
| 4 | g.5565289T>G | CA356148040 | EVC2 | c.3628A>C (p.Lys1210Gln) c.3388A>C (p.Lys1130Gln) c.*2021A>C (n.*2021A>C) c.3637A>C (p.Lys1213Gln) c.3397A>C (p.Lys1133Gln) c.1948A>C (p.Lys650Gln) n.3478A>C | |
| 4 | g.5565290T>A | CA356148041 | EVC2 | c.3627A>T (p.Glu1209Asp) c.3387A>T (p.Glu1129Asp) c.*2020A>T (n.*2020A>T) c.3636A>T (p.Glu1212Asp) c.3396A>T (p.Glu1132Asp) c.1947A>T (p.Glu649Asp) n.3477A>T | |
| 4 | g.5565290T>C | CA2834245 | EVC2 | c.3627A>G (p.Glu1209=) c.3387A>G (p.Glu1129=) c.*2020A>G (n.*2020A>G) c.3636A>G (p.Glu1212=) c.3396A>G (p.Glu1132=) c.1947A>G (p.Glu649=) n.3477A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565290T>G | CA356148042 | EVC2 | c.3627A>C (p.Glu1209Asp) c.3387A>C (p.Glu1129Asp) c.*2020A>C (n.*2020A>C) c.3636A>C (p.Glu1212Asp) c.3396A>C (p.Glu1132Asp) c.1947A>C (p.Glu649Asp) n.3477A>C | |
| 4 | g.5565290T= | CA1435391978 | EVC2 | c.3627A= (p.Glu1209=) c.3387A= (p.Glu1129=) c.*2020A= (n.*2020A=) c.3636A= (p.Glu1212=) c.3396A= (p.Glu1132=) c.1947A= (p.Glu649=) n.3477A= | |
| 4 | g.5565291T>A | CA356148043 | EVC2 | c.3626A>T (p.Glu1209Val) c.3386A>T (p.Glu1129Val) c.*2019A>T (n.*2019A>T) c.3635A>T (p.Glu1212Val) c.3395A>T (p.Glu1132Val) c.1946A>T (p.Glu649Val) n.3476A>T | |
| 4 | g.5565291T>C | CA356148044 | EVC2 | c.3626A>G (p.Glu1209Gly) c.3386A>G (p.Glu1129Gly) c.*2019A>G (n.*2019A>G) c.3635A>G (p.Glu1212Gly) c.3395A>G (p.Glu1132Gly) c.1946A>G (p.Glu649Gly) n.3476A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565291T>G | CA356148045 | EVC2 | c.3626A>C (p.Glu1209Ala) c.3386A>C (p.Glu1129Ala) c.*2019A>C (n.*2019A>C) c.3635A>C (p.Glu1212Ala) c.3395A>C (p.Glu1132Ala) c.1946A>C (p.Glu649Ala) n.3476A>C | |
| 4 | g.5565291T= | CA1435391979 | EVC2 | c.3626A= (p.Glu1209=) c.3386A= (p.Glu1129=) c.*2019A= (n.*2019A=) c.3635A= (p.Glu1212=) c.3395A= (p.Glu1132=) c.1946A= (p.Glu649=) n.3476A= | |
| 4 | g.5565292C>A | CA356148046 | EVC2 | c.3625G>T (p.Glu1209Ter) c.3385G>T (p.Glu1129Ter) c.*2018G>T (n.*2018G>T) c.3634G>T (p.Glu1212Ter) c.3394G>T (p.Glu1132Ter) c.1945G>T (p.Glu649Ter) n.3475G>T | |
| 4 | g.5565292C= | CA1435391980 | EVC2 | c.3625G= (p.Glu1209=) c.3385G= (p.Glu1129=) c.*2018G= (n.*2018G=) c.3634G= (p.Glu1212=) c.3394G= (p.Glu1132=) c.1945G= (p.Glu649=) n.3475G= | |
| 4 | g.5565292C>G | CA356148047 | EVC2 | c.3625G>C (p.Glu1209Gln) c.3385G>C (p.Glu1129Gln) c.*2018G>C (n.*2018G>C) c.3634G>C (p.Glu1212Gln) c.3394G>C (p.Glu1132Gln) c.1945G>C (p.Glu649Gln) n.3475G>C | dbSNP |
| 4 | g.5565292C>T | CA356148048 | EVC2 | c.3625G>A (p.Glu1209Lys) c.3385G>A (p.Glu1129Lys) c.*2018G>A (n.*2018G>A) c.3634G>A (p.Glu1212Lys) c.3394G>A (p.Glu1132Lys) c.1945G>A (p.Glu649Lys) n.3475G>A | |
| 4 | g.5565293T>A | CA356148049 | EVC2 | c.3624A>T (p.Leu1208Phe) c.3384A>T (p.Leu1128Phe) c.*2017A>T (n.*2017A>T) c.3633A>T (p.Leu1211Phe) c.3393A>T (p.Leu1131Phe) c.1944A>T (p.Leu648Phe) n.3474A>T | |
| 4 | g.5565293T>C | CA438203151 | EVC2 | c.3624A>G (p.Leu1208=) c.3384A>G (p.Leu1128=) c.*2017A>G (n.*2017A>G) c.3633A>G (p.Leu1211=) c.3393A>G (p.Leu1131=) c.1944A>G (p.Leu648=) n.3474A>G | gnomAD v4 |
| 4 | g.5565293T>G | CA356148050 | EVC2 | c.3624A>C (p.Leu1208Phe) c.3384A>C (p.Leu1128Phe) c.*2017A>C (n.*2017A>C) c.3633A>C (p.Leu1211Phe) c.3393A>C (p.Leu1131Phe) c.1944A>C (p.Leu648Phe) n.3474A>C | |
| 4 | g.5565294A>C | CA356148051 | EVC2 | c.3623T>G (p.Leu1208Ter) c.3383T>G (p.Leu1128Ter) c.*2016T>G (n.*2016T>G) c.3632T>G (p.Leu1211Ter) c.3392T>G (p.Leu1131Ter) c.1943T>G (p.Leu648Ter) n.3473T>G | |
| 4 | g.5565294A>G | CA356148052 | EVC2 | c.3623T>C (p.Leu1208Ser) c.3383T>C (p.Leu1128Ser) c.*2016T>C (n.*2016T>C) c.3632T>C (p.Leu1211Ser) c.3392T>C (p.Leu1131Ser) c.1943T>C (p.Leu648Ser) n.3473T>C | |
| 4 | g.5565294A>T | CA356148053 | EVC2 | c.3623T>A (p.Leu1208Ter) c.3383T>A (p.Leu1128Ter) c.*2016T>A (n.*2016T>A) c.3632T>A (p.Leu1211Ter) c.3392T>A (p.Leu1131Ter) c.1943T>A (p.Leu648Ter) n.3473T>A | |
| 4 | g.5565295A>C | CA356148055 | EVC2 | c.3622T>G (p.Leu1208Val) c.3382T>G (p.Leu1128Val) c.*2015T>G (n.*2015T>G) c.3631T>G (p.Leu1211Val) c.3391T>G (p.Leu1131Val) c.1942T>G (p.Leu648Val) n.3472T>G | |
| 4 | g.5565295A>G | CA438203152 | EVC2 | c.3622T>C (p.Leu1208=) c.3382T>C (p.Leu1128=) c.*2015T>C (n.*2015T>C) c.3631T>C (p.Leu1211=) c.3391T>C (p.Leu1131=) c.1942T>C (p.Leu648=) n.3472T>C | |
| 4 | g.5565295A>T | CA356148054 | EVC2 | c.3622T>A (p.Leu1208Ile) c.3382T>A (p.Leu1128Ile) c.*2015T>A (n.*2015T>A) c.3631T>A (p.Leu1211Ile) c.3391T>A (p.Leu1131Ile) c.1942T>A (p.Leu648Ile) n.3472T>A | |
| 4 | g.5565296T>A | CA438203153 | EVC2 | c.3621A>T (p.Gly1207=) c.3381A>T (p.Gly1127=) c.*2014A>T (n.*2014A>T) c.3630A>T (p.Gly1210=) c.3390A>T (p.Gly1130=) c.1941A>T (p.Gly647=) n.3471A>T | |
| 4 | g.5565296T>C | CA438203154 | EVC2 | c.3621A>G (p.Gly1207=) c.3381A>G (p.Gly1127=) c.*2014A>G (n.*2014A>G) c.3630A>G (p.Gly1210=) c.3390A>G (p.Gly1130=) c.1941A>G (p.Gly647=) n.3471A>G | gnomAD v4 |
| 4 | g.5565296T>G | CA438203155 | EVC2 | c.3621A>C (p.Gly1207=) c.3381A>C (p.Gly1127=) c.*2014A>C (n.*2014A>C) c.3630A>C (p.Gly1210=) c.3390A>C (p.Gly1130=) c.1941A>C (p.Gly647=) n.3471A>C | dbSNP |
| 4 | g.5565297C>A | CA356148056 | EVC2 | c.3620G>T (p.Gly1207Val) c.3380G>T (p.Gly1127Val) c.*2013G>T (n.*2013G>T) c.3629G>T (p.Gly1210Val) c.3389G>T (p.Gly1130Val) c.1940G>T (p.Gly647Val) n.3470G>T | gnomAD v4 |
| 4 | g.5565297C= | CA1435391981 | EVC2 | c.3620G= (p.Gly1207=) c.3380G= (p.Gly1127=) c.*2013G= (n.*2013G=) c.3629G= (p.Gly1210=) c.3389G= (p.Gly1130=) c.1940G= (p.Gly647=) n.3470G= | |
| 4 | g.5565297C>G | CA2834246 | EVC2 | c.3620G>C (p.Gly1207Ala) c.3380G>C (p.Gly1127Ala) c.*2013G>C (n.*2013G>C) c.3629G>C (p.Gly1210Ala) c.3389G>C (p.Gly1130Ala) c.1940G>C (p.Gly647Ala) n.3470G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5565297C>T | CA356148057 | EVC2 | c.3620G>A (p.Gly1207Glu) c.3380G>A (p.Gly1127Glu) c.*2013G>A (n.*2013G>A) c.3629G>A (p.Gly1210Glu) c.3389G>A (p.Gly1130Glu) c.1940G>A (p.Gly647Glu) n.3470G>A | gnomAD v4 |
| 4 | g.5565298C>A | CA356148058 | EVC2 | c.3619G>T (p.Gly1207Ter) c.3379G>T (p.Gly1127Ter) c.*2012G>T (n.*2012G>T) c.3628G>T (p.Gly1210Ter) c.3388G>T (p.Gly1130Ter) c.1939G>T (p.Gly647Ter) n.3469G>T | |
| 4 | g.5565298C>G | CA356148059 | EVC2 | c.3619G>C (p.Gly1207Arg) c.3379G>C (p.Gly1127Arg) c.*2012G>C (n.*2012G>C) c.3628G>C (p.Gly1210Arg) c.3388G>C (p.Gly1130Arg) c.1939G>C (p.Gly647Arg) n.3469G>C | |
| 4 | g.5565298C>T | CA356148060 | EVC2 | c.3619G>A (p.Gly1207Arg) c.3379G>A (p.Gly1127Arg) c.*2012G>A (n.*2012G>A) c.3628G>A (p.Gly1210Arg) c.3388G>A (p.Gly1130Arg) c.1939G>A (p.Gly647Arg) n.3469G>A | |
| 4 | g.5565299T>A | CA356148061 | EVC2 | c.3618A>T (p.Arg1206Ser) c.3378A>T (p.Arg1126Ser) c.*2011A>T (n.*2011A>T) c.3627A>T (p.Arg1209Ser) c.3387A>T (p.Arg1129Ser) c.1938A>T (p.Arg646Ser) n.3468A>T | |
| 4 | g.5565299T>C | CA438203156 | EVC2 | c.3618A>G (p.Arg1206=) c.3378A>G (p.Arg1126=) c.*2011A>G (n.*2011A>G) c.3627A>G (p.Arg1209=) c.3387A>G (p.Arg1129=) c.1938A>G (p.Arg646=) n.3468A>G | |
| 4 | g.5565299T>G | CA356148062 | EVC2 | c.3618A>C (p.Arg1206Ser) c.3378A>C (p.Arg1126Ser) c.*2011A>C (n.*2011A>C) c.3627A>C (p.Arg1209Ser) c.3387A>C (p.Arg1129Ser) c.1938A>C (p.Arg646Ser) n.3468A>C | |
| 4 | g.5565300C>A | CA356148063 | EVC2 | c.3617G>T (p.Arg1206Ile) c.3377G>T (p.Arg1126Ile) c.*2010G>T (n.*2010G>T) c.3626G>T (p.Arg1209Ile) c.3386G>T (p.Arg1129Ile) c.1937G>T (p.Arg646Ile) n.3467G>T | |
| 4 | g.5565300C= | CA1435391982 | EVC2 | c.3617G= (p.Arg1206=) c.3377G= (p.Arg1126=) c.*2010G= (n.*2010G=) c.3626G= (p.Arg1209=) c.3386G= (p.Arg1129=) c.1937G= (p.Arg646=) n.3467G= | |
| 4 | g.5565300C>G | CA356148064 | EVC2 | c.3617G>C (p.Arg1206Thr) c.3377G>C (p.Arg1126Thr) c.*2010G>C (n.*2010G>C) c.3626G>C (p.Arg1209Thr) c.3386G>C (p.Arg1129Thr) c.1937G>C (p.Arg646Thr) n.3467G>C | |
| 4 | g.5565300C>T | CA2834247 | EVC2 | c.3617G>A (p.Arg1206Lys) c.3377G>A (p.Arg1126Lys) c.*2010G>A (n.*2010G>A) c.3626G>A (p.Arg1209Lys) c.3386G>A (p.Arg1129Lys) c.1937G>A (p.Arg646Lys) n.3467G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5565301T>A | CA356148065 | EVC2 | c.3616A>T (p.Arg1206Ter) c.3376A>T (p.Arg1126Ter) c.*2009A>T (n.*2009A>T) c.3625A>T (p.Arg1209Ter) c.3385A>T (p.Arg1129Ter) c.1936A>T (p.Arg646Ter) n.3466A>T | |
| 4 | g.5565301T>C | CA356148066 | EVC2 | c.3616A>G (p.Arg1206Gly) c.3376A>G (p.Arg1126Gly) c.*2009A>G (n.*2009A>G) c.3625A>G (p.Arg1209Gly) c.3385A>G (p.Arg1129Gly) c.1936A>G (p.Arg646Gly) n.3466A>G | gnomAD v4 |
| 4 | g.5565301T>G | CA438203157 | EVC2 | c.3616A>C (p.Arg1206=) c.3376A>C (p.Arg1126=) c.*2009A>C (n.*2009A>C) c.3625A>C (p.Arg1209=) c.3385A>C (p.Arg1129=) c.1936A>C (p.Arg646=) n.3466A>C | |
| 4 | g.5565302G>A | CA438203158 | EVC2 | c.3615C>T (p.Ser1205=) c.3375C>T (p.Ser1125=) c.*2008C>T (n.*2008C>T) c.3624C>T (p.Ser1208=) c.3384C>T (p.Ser1128=) c.1935C>T (p.Ser645=) n.3465C>T | gnomAD v4 |
| 4 | g.5565302G>C | CA356148067 | EVC2 | c.3615C>G (p.Ser1205Arg) c.3375C>G (p.Ser1125Arg) c.*2008C>G (n.*2008C>G) c.3624C>G (p.Ser1208Arg) c.3384C>G (p.Ser1128Arg) c.1935C>G (p.Ser645Arg) n.3465C>G | |
| 4 | g.5565302G>T | CA356148068 | EVC2 | c.3615C>A (p.Ser1205Arg) c.3375C>A (p.Ser1125Arg) c.*2008C>A (n.*2008C>A) c.3624C>A (p.Ser1208Arg) c.3384C>A (p.Ser1128Arg) c.1935C>A (p.Ser645Arg) n.3465C>A | |
| 4 | g.5565303C>A | CA356148071 | EVC2 | c.3614G>T (p.Ser1205Ile) c.3374G>T (p.Ser1125Ile) c.*2007G>T (n.*2007G>T) c.3623G>T (p.Ser1208Ile) c.3383G>T (p.Ser1128Ile) c.1934G>T (p.Ser645Ile) n.3464G>T | |
| 4 | g.5565303C>G | CA356148069 | EVC2 | c.3614G>C (p.Ser1205Thr) c.3374G>C (p.Ser1125Thr) c.*2007G>C (n.*2007G>C) c.3623G>C (p.Ser1208Thr) c.3383G>C (p.Ser1128Thr) c.1934G>C (p.Ser645Thr) n.3464G>C | |
| 4 | g.5565303C>T | CA356148070 | EVC2 | c.3614G>A (p.Ser1205Asn) c.3374G>A (p.Ser1125Asn) c.*2007G>A (n.*2007G>A) c.3623G>A (p.Ser1208Asn) c.3383G>A (p.Ser1128Asn) c.1934G>A (p.Ser645Asn) n.3464G>A | |
| 4 | g.5565304T>A | CA356148072 | EVC2 | c.3613A>T (p.Ser1205Cys) c.3373A>T (p.Ser1125Cys) c.*2006A>T (n.*2006A>T) c.3622A>T (p.Ser1208Cys) c.3382A>T (p.Ser1128Cys) c.1933A>T (p.Ser645Cys) n.3463A>T | |
| 4 | g.5565304T>C | CA356148073 | EVC2 | c.3613A>G (p.Ser1205Gly) c.3373A>G (p.Ser1125Gly) c.*2006A>G (n.*2006A>G) c.3622A>G (p.Ser1208Gly) c.3382A>G (p.Ser1128Gly) c.1933A>G (p.Ser645Gly) n.3463A>G | |
| 4 | g.5565304T>G | CA356148074 | EVC2 | c.3613A>C (p.Ser1205Arg) c.3373A>C (p.Ser1125Arg) c.*2006A>C (n.*2006A>C) c.3622A>C (p.Ser1208Arg) c.3382A>C (p.Ser1128Arg) c.1933A>C (p.Ser645Arg) n.3463A>C | |
| 4 | g.5565305T>A | CA438203159 | EVC2 | c.3612A>T (p.Ile1204=) c.3372A>T (p.Ile1124=) c.*2005A>T (n.*2005A>T) c.3621A>T (p.Ile1207=) c.3381A>T (p.Ile1127=) c.1932A>T (p.Ile644=) n.3462A>T | |
| 4 | g.5565305T>C | CA356148075 | EVC2 | c.3612A>G (p.Ile1204Met) c.3372A>G (p.Ile1124Met) c.*2005A>G (n.*2005A>G) c.3621A>G (p.Ile1207Met) c.3381A>G (p.Ile1127Met) c.1932A>G (p.Ile644Met) n.3462A>G | |
| 4 | g.5565305T>G | CA438203160 | EVC2 | c.3612A>C (p.Ile1204=) c.3372A>C (p.Ile1124=) c.*2005A>C (n.*2005A>C) c.3621A>C (p.Ile1207=) c.3381A>C (p.Ile1127=) c.1932A>C (p.Ile644=) n.3462A>C | |
| 4 | g.5565306A>C | CA356148076 | EVC2 | c.3611T>G (p.Ile1204Arg) c.3371T>G (p.Ile1124Arg) c.*2004T>G (n.*2004T>G) c.3620T>G (p.Ile1207Arg) c.3380T>G (p.Ile1127Arg) c.1931T>G (p.Ile644Arg) n.3461T>G | |
| 4 | g.5565306A>G | CA356148077 | EVC2 | c.3611T>C (p.Ile1204Thr) c.3371T>C (p.Ile1124Thr) c.*2004T>C (n.*2004T>C) c.3620T>C (p.Ile1207Thr) c.3380T>C (p.Ile1127Thr) c.1931T>C (p.Ile644Thr) n.3461T>C | |
| 4 | g.5565306A>T | CA356148078 | EVC2 | c.3611T>A (p.Ile1204Lys) c.3371T>A (p.Ile1124Lys) c.*2004T>A (n.*2004T>A) c.3620T>A (p.Ile1207Lys) c.3380T>A (p.Ile1127Lys) c.1931T>A (p.Ile644Lys) n.3461T>A | |
| 4 | g.5565307T>A | CA356148079 | EVC2 | c.3610A>T (p.Ile1204Leu) c.3370A>T (p.Ile1124Leu) c.*2003A>T (n.*2003A>T) c.3619A>T (p.Ile1207Leu) c.3379A>T (p.Ile1127Leu) c.1930A>T (p.Ile644Leu) n.3460A>T | ClinVar gnomAD v4 |
| 4 | g.5565307T>C | CA356148080 | EVC2 | c.3610A>G (p.Ile1204Val) c.3370A>G (p.Ile1124Val) c.*2003A>G (n.*2003A>G) c.3619A>G (p.Ile1207Val) c.3379A>G (p.Ile1127Val) c.1930A>G (p.Ile644Val) n.3460A>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5565307T>G | CA356148081 | EVC2 | c.3610A>C (p.Ile1204Leu) c.3370A>C (p.Ile1124Leu) c.*2003A>C (n.*2003A>C) c.3619A>C (p.Ile1207Leu) c.3379A>C (p.Ile1127Leu) c.1930A>C (p.Ile644Leu) n.3460A>C | |
| 4 | g.5565307T= | CA1435391983 | EVC2 | c.3610A= (p.Ile1204=) c.3370A= (p.Ile1124=) c.*2003A= (n.*2003A=) c.3619A= (p.Ile1207=) c.3379A= (p.Ile1127=) c.1930A= (p.Ile644=) n.3460A= | |
| 4 | g.5565308C>A | CA438203161 | EVC2 | c.3609G>T (p.Leu1203=) c.3369G>T (p.Leu1123=) c.*2002G>T (n.*2002G>T) c.3618G>T (p.Leu1206=) c.3378G>T (p.Leu1126=) c.1929G>T (p.Leu643=) n.3459G>T | gnomAD v4 |
| 4 | g.5565308C= | CA1435391984 | EVC2 | c.3609G= (p.Leu1203=) c.3369G= (p.Leu1123=) c.*2002G= (n.*2002G=) c.3618G= (p.Leu1206=) c.3378G= (p.Leu1126=) c.1929G= (p.Leu643=) n.3459G= | |
| 4 | g.5565308C>G | CA2834248 | EVC2 | c.3609G>C (p.Leu1203=) c.3369G>C (p.Leu1123=) c.*2002G>C (n.*2002G>C) c.3618G>C (p.Leu1206=) c.3378G>C (p.Leu1126=) c.1929G>C (p.Leu643=) n.3459G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565308C>T | CA438203162 | EVC2 | c.3609G>A (p.Leu1203=) c.3369G>A (p.Leu1123=) c.*2002G>A (n.*2002G>A) c.3618G>A (p.Leu1206=) c.3378G>A (p.Leu1126=) c.1929G>A (p.Leu643=) n.3459G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.5565309A>C | CA356148083 | EVC2 | c.3608T>G (p.Leu1203Arg) c.3368T>G (p.Leu1123Arg) c.*2001T>G (n.*2001T>G) c.3617T>G (p.Leu1206Arg) c.3377T>G (p.Leu1126Arg) c.1928T>G (p.Leu643Arg) n.3458T>G | |
| 4 | g.5565309A>G | CA356148084 | EVC2 | c.3608T>C (p.Leu1203Pro) c.3368T>C (p.Leu1123Pro) c.*2001T>C (n.*2001T>C) c.3617T>C (p.Leu1206Pro) c.3377T>C (p.Leu1126Pro) c.1928T>C (p.Leu643Pro) n.3458T>C | |
| 4 | g.5565309A>T | CA356148082 | EVC2 | c.3608T>A (p.Leu1203Gln) c.3368T>A (p.Leu1123Gln) c.*2001T>A (n.*2001T>A) c.3617T>A (p.Leu1206Gln) c.3377T>A (p.Leu1126Gln) c.1928T>A (p.Leu643Gln) n.3458T>A | |
| 4 | g.5565310G>A | CA2834249 | EVC2 | c.3607C>T (p.Leu1203=) c.3367C>T (p.Leu1123=) c.*2000C>T (n.*2000C>T) c.3616C>T (p.Leu1206=) c.3376C>T (p.Leu1126=) c.1927C>T (p.Leu643=) n.3457C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5565310G>C | CA356148085 | EVC2 | c.3607C>G (p.Leu1203Val) c.3367C>G (p.Leu1123Val) c.*2000C>G (n.*2000C>G) c.3616C>G (p.Leu1206Val) c.3376C>G (p.Leu1126Val) c.1927C>G (p.Leu643Val) n.3457C>G | |
| 4 | g.5565310G= | CA1435391985 | EVC2 | c.3607C= (p.Leu1203=) c.3367C= (p.Leu1123=) c.*2000C= (n.*2000C=) c.3616C= (p.Leu1206=) c.3376C= (p.Leu1126=) c.1927C= (p.Leu643=) n.3457C= | |
| 4 | g.5565310G>T | CA356148086 | EVC2 | c.3607C>A (p.Leu1203Met) c.3367C>A (p.Leu1123Met) c.*2000C>A (n.*2000C>A) c.3616C>A (p.Leu1206Met) c.3376C>A (p.Leu1126Met) c.1927C>A (p.Leu643Met) n.3457C>A | |
| 4 | g.5565311A= | CA1435391986 | EVC2 | c.3606T= (p.Asp1202=) c.3366T= (p.Asp1122=) c.*1999T= (n.*1999T=) c.3615T= (p.Asp1205=) c.3375T= (p.Asp1125=) c.1926T= (p.Asp642=) n.3456T= | |
| 4 | g.5565311A>C | CA356148087 | EVC2 | c.3606T>G (p.Asp1202Glu) c.3366T>G (p.Asp1122Glu) c.*1999T>G (n.*1999T>G) c.3615T>G (p.Asp1205Glu) c.3375T>G (p.Asp1125Glu) c.1926T>G (p.Asp642Glu) n.3456T>G | |
| 4 | g.5565311A>G | CA438203163 | EVC2 | c.3606T>C (p.Asp1202=) c.3366T>C (p.Asp1122=) c.*1999T>C (n.*1999T>C) c.3615T>C (p.Asp1205=) c.3375T>C (p.Asp1125=) c.1926T>C (p.Asp642=) n.3456T>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565311A>T | CA356148088 | EVC2 | c.3606T>A (p.Asp1202Glu) c.3366T>A (p.Asp1122Glu) c.*1999T>A (n.*1999T>A) c.3615T>A (p.Asp1205Glu) c.3375T>A (p.Asp1125Glu) c.1926T>A (p.Asp642Glu) n.3456T>A | gnomAD v4 |
| 4 | g.5565312T>A | CA356148091 | EVC2 | c.3605A>T (p.Asp1202Val) c.3365A>T (p.Asp1122Val) c.*1998A>T (n.*1998A>T) c.3614A>T (p.Asp1205Val) c.3374A>T (p.Asp1125Val) c.1925A>T (p.Asp642Val) n.3455A>T | |
| 4 | g.5565312T>C | CA356148090 | EVC2 | c.3605A>G (p.Asp1202Gly) c.3365A>G (p.Asp1122Gly) c.*1998A>G (n.*1998A>G) c.3614A>G (p.Asp1205Gly) c.3374A>G (p.Asp1125Gly) c.1925A>G (p.Asp642Gly) n.3455A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565312T>G | CA356148089 | EVC2 | c.3605A>C (p.Asp1202Ala) c.3365A>C (p.Asp1122Ala) c.*1998A>C (n.*1998A>C) c.3614A>C (p.Asp1205Ala) c.3374A>C (p.Asp1125Ala) c.1925A>C (p.Asp642Ala) n.3455A>C | |
| 4 | g.5565312T= | CA1435391987 | EVC2 | c.3605A= (p.Asp1202=) c.3365A= (p.Asp1122=) c.*1998A= (n.*1998A=) c.3614A= (p.Asp1205=) c.3374A= (p.Asp1125=) c.1925A= (p.Asp642=) n.3455A= | |
| 4 | g.5565312_5565315del | CA913106991 | EVC2 | c.3602_3605del (p.Gly1201ValfsTer2) c.3362_3365del (p.Gly1121ValfsTer2) c.*1995_*1998del (n.*1995_*1998del) c.3611_3614del (p.Gly1204ValfsTer2) c.3371_3374del (p.Gly1124ValfsTer2) c.1922_1925del (p.Gly641ValfsTer2) n.3452_3455del | |
| 4 | g.5565312_5565315delinsTCTC | CA1435391988 | EVC2 | c.3602_3605delinsGAGA (p.Gly1201=) c.3362_3365delinsGAGA (p.Gly1121=) c.*1995_*1998delinsGAGA (n.*1995_*1998delinsGAGA) c.3611_3614delinsGAGA (p.Gly1204=) c.3371_3374delinsGAGA (p.Gly1124=) c.1922_1925delinsGAGA (p.Gly641=) n.3452_3455delinsGAGA | |
| 4 | g.5565313C>A | CA356148092 | EVC2 | c.3604G>T (p.Asp1202Tyr) c.3364G>T (p.Asp1122Tyr) c.*1997G>T (n.*1997G>T) c.3613G>T (p.Asp1205Tyr) c.3373G>T (p.Asp1125Tyr) c.1924G>T (p.Asp642Tyr) n.3454G>T | ClinVar dbSNP COSMIC |
| 4 | g.5565313C= | CA1435391989 | EVC2 | c.3604G= (p.Asp1202=) c.3364G= (p.Asp1122=) c.*1997G= (n.*1997G=) c.3613G= (p.Asp1205=) c.3373G= (p.Asp1125=) c.1924G= (p.Asp642=) n.3454G= | |
| 4 | g.5565313C>G | CA2834250 | EVC2 | c.3604G>C (p.Asp1202His) c.3364G>C (p.Asp1122His) c.*1997G>C (n.*1997G>C) c.3613G>C (p.Asp1205His) c.3373G>C (p.Asp1125His) c.1924G>C (p.Asp642His) n.3454G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5565313C>T | CA356148093 | EVC2 | c.3604G>A (p.Asp1202Asn) c.3364G>A (p.Asp1122Asn) c.*1997G>A (n.*1997G>A) c.3613G>A (p.Asp1205Asn) c.3373G>A (p.Asp1125Asn) c.1924G>A (p.Asp642Asn) n.3454G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565316_5565318del | CA658821380 | EVC2 | c.3602_3604del (p.Gly1201del) c.3362_3364del (p.Gly1121del) c.*1995_*1997del (n.*1995_*1997del) c.3611_3613del (p.Gly1204del) c.3371_3373del (p.Gly1124del) c.1922_1924del (p.Gly641del) n.3452_3454del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5565314T>A | CA438203164 | EVC2 | c.3603A>T (p.Gly1201=) c.3363A>T (p.Gly1121=) c.*1996A>T (n.*1996A>T) c.3612A>T (p.Gly1204=) c.3372A>T (p.Gly1124=) c.1923A>T (p.Gly641=) n.3453A>T | |
| 4 | g.5565314T>C | CA438203165 | EVC2 | c.3603A>G (p.Gly1201=) c.3363A>G (p.Gly1121=) c.*1996A>G (n.*1996A>G) c.3612A>G (p.Gly1204=) c.3372A>G (p.Gly1124=) c.1923A>G (p.Gly641=) n.3453A>G | dbSNP |
| 4 | g.5565314T>G | CA438203166 | EVC2 | c.3603A>C (p.Gly1201=) c.3363A>C (p.Gly1121=) c.*1996A>C (n.*1996A>C) c.3612A>C (p.Gly1204=) c.3372A>C (p.Gly1124=) c.1923A>C (p.Gly641=) n.3453A>C | |
| 4 | g.5565315C>A | CA356148094 | EVC2 | c.3602G>T (p.Gly1201Val) c.3362G>T (p.Gly1121Val) c.*1995G>T (n.*1995G>T) c.3611G>T (p.Gly1204Val) c.3371G>T (p.Gly1124Val) c.1922G>T (p.Gly641Val) n.3452G>T | gnomAD v4 |
| 4 | g.5565315C= | CA1435391990 | EVC2 | c.3602G= (p.Gly1201=) c.3362G= (p.Gly1121=) c.*1995G= (n.*1995G=) c.3611G= (p.Gly1204=) c.3371G= (p.Gly1124=) c.1922G= (p.Gly641=) n.3452G= | |
| 4 | g.5565315C>G | CA356148095 | EVC2 | c.3602G>C (p.Gly1201Ala) c.3362G>C (p.Gly1121Ala) c.*1995G>C (n.*1995G>C) c.3611G>C (p.Gly1204Ala) c.3371G>C (p.Gly1124Ala) c.1922G>C (p.Gly641Ala) n.3452G>C | |
| 4 | g.5565315C>T | CA356148096 | EVC2 | c.3602G>A (p.Gly1201Glu) c.3362G>A (p.Gly1121Glu) c.*1995G>A (n.*1995G>A) c.3611G>A (p.Gly1204Glu) c.3371G>A (p.Gly1124Glu) c.1922G>A (p.Gly641Glu) n.3452G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565316C>A | CA356148097 | EVC2 | c.3601G>T (p.Gly1201Ter) c.3361G>T (p.Gly1121Ter) c.*1994G>T (n.*1994G>T) c.3610G>T (p.Gly1204Ter) c.3370G>T (p.Gly1124Ter) c.1921G>T (p.Gly641Ter) n.3451G>T | |
| 4 | g.5565316C= | CA1435391991 | EVC2 | c.3601G= (p.Gly1201=) c.3361G= (p.Gly1121=) c.*1994G= (n.*1994G=) c.3610G= (p.Gly1204=) c.3370G= (p.Gly1124=) c.1921G= (p.Gly641=) n.3451G= | |
| 4 | g.5565316C>G | CA356148099 | EVC2 | c.3601G>C (p.Gly1201Arg) c.3361G>C (p.Gly1121Arg) c.*1994G>C (n.*1994G>C) c.3610G>C (p.Gly1204Arg) c.3370G>C (p.Gly1124Arg) c.1921G>C (p.Gly641Arg) n.3451G>C | dbSNP gnomAD v4 |
| 4 | g.5565316C>T | CA356148098 | EVC2 | c.3601G>A (p.Gly1201Arg) c.3361G>A (p.Gly1121Arg) c.*1994G>A (n.*1994G>A) c.3610G>A (p.Gly1204Arg) c.3370G>A (p.Gly1124Arg) c.1921G>A (p.Gly641Arg) n.3451G>A | |
| 4 | g.5565317T>A | CA438203167 | EVC2 | c.3600A>T (p.Arg1200=) c.3360A>T (p.Arg1120=) c.*1993A>T (n.*1993A>T) c.3609A>T (p.Arg1203=) c.3369A>T (p.Arg1123=) c.1920A>T (p.Arg640=) n.3450A>T | |
| 4 | g.5565317T>C | CA438203169 | EVC2 | c.3600A>G (p.Arg1200=) c.3360A>G (p.Arg1120=) c.*1993A>G (n.*1993A>G) c.3609A>G (p.Arg1203=) c.3369A>G (p.Arg1123=) c.1920A>G (p.Arg640=) n.3450A>G | |
| 4 | g.5565317T>G | CA438203168 | EVC2 | c.3600A>C (p.Arg1200=) c.3360A>C (p.Arg1120=) c.*1993A>C (n.*1993A>C) c.3609A>C (p.Arg1203=) c.3369A>C (p.Arg1123=) c.1920A>C (p.Arg640=) n.3450A>C | |
| 4 | g.5565317_5565318insATATCAGAGC | CA2669799926 | EVC2 | c.3599_3600insGCTCTGATAT (p.Gly1201LeufsTer2) c.3359_3360insGCTCTGATAT (p.Gly1121LeufsTer2) c.*1992_*1993insGCTCTGATAT (n.*1992_*1993insGCTCTGATAT) c.3608_3609insGCTCTGATAT (p.Gly1204LeufsTer2) c.3368_3369insGCTCTGATAT (p.Gly1124LeufsTer2) c.1919_1920insGCTCTGATAT (p.Gly641LeufsTer2) n.3449_3450insGCTCTGATAT | gnomAD v4 |
| 4 | g.5565318C>A | CA356148100 | EVC2 | c.3599G>T (p.Arg1200Leu) c.3359G>T (p.Arg1120Leu) c.*1992G>T (n.*1992G>T) c.3608G>T (p.Arg1203Leu) c.3368G>T (p.Arg1123Leu) c.1919G>T (p.Arg640Leu) n.3449G>T | gnomAD v4 |
| 4 | g.5565318C= | CA1435391992 | EVC2 | c.3599G= (p.Arg1200=) c.3359G= (p.Arg1120=) c.*1992G= (n.*1992G=) c.3608G= (p.Arg1203=) c.3368G= (p.Arg1123=) c.1919G= (p.Arg640=) n.3449G= | |
| 4 | g.5565318C>G | CA356148101 | EVC2 | c.3599G>C (p.Arg1200Pro) c.3359G>C (p.Arg1120Pro) c.*1992G>C (n.*1992G>C) c.3608G>C (p.Arg1203Pro) c.3368G>C (p.Arg1123Pro) c.1919G>C (p.Arg640Pro) n.3449G>C | COSMIC COSMIC |
| 4 | g.5565318C>T | CA356148102 | EVC2 | c.3599G>A (p.Arg1200Gln) c.3359G>A (p.Arg1120Gln) c.*1992G>A (n.*1992G>A) c.3608G>A (p.Arg1203Gln) c.3368G>A (p.Arg1123Gln) c.1919G>A (p.Arg640Gln) n.3449G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565319G>A | CA356148103 | EVC2 | c.3598C>T (p.Arg1200Ter) c.3358C>T (p.Arg1120Ter) c.*1991C>T (n.*1991C>T) c.3607C>T (p.Arg1203Ter) c.3367C>T (p.Arg1123Ter) c.1918C>T (p.Arg640Ter) n.3448C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.5565319G>C | CA356148104 | EVC2 | c.3598C>G (p.Arg1200Gly) c.3358C>G (p.Arg1120Gly) c.*1991C>G (n.*1991C>G) c.3607C>G (p.Arg1203Gly) c.3367C>G (p.Arg1123Gly) c.1918C>G (p.Arg640Gly) n.3448C>G | gnomAD v4 |
| 4 | g.5565319G= | CA1435391993 | EVC2 | c.3598C= (p.Arg1200=) c.3358C= (p.Arg1120=) c.*1991C= (n.*1991C=) c.3607C= (p.Arg1203=) c.3367C= (p.Arg1123=) c.1918C= (p.Arg640=) n.3448C= | |
| 4 | g.5565319G>T | CA438203170 | EVC2 | c.3598C>A (p.Arg1200=) c.3358C>A (p.Arg1120=) c.*1991C>A (n.*1991C>A) c.3607C>A (p.Arg1203=) c.3367C>A (p.Arg1123=) c.1918C>A (p.Arg640=) n.3448C>A | |
| 4 | g.5565320C>A | CA438203171 | EVC2 | c.3597G>T (p.Leu1199=) c.3357G>T (p.Leu1119=) c.*1990G>T (n.*1990G>T) c.3606G>T (p.Leu1202=) c.3366G>T (p.Leu1122=) c.1917G>T (p.Leu639=) n.3447G>T | |
| 4 | g.5565320C>G | CA438203172 | EVC2 | c.3597G>C (p.Leu1199=) c.3357G>C (p.Leu1119=) c.*1990G>C (n.*1990G>C) c.3606G>C (p.Leu1202=) c.3366G>C (p.Leu1122=) c.1917G>C (p.Leu639=) n.3447G>C | |
| 4 | g.5565320C>T | CA438203173 | EVC2 | c.3597G>A (p.Leu1199=) c.3357G>A (p.Leu1119=) c.*1990G>A (n.*1990G>A) c.3606G>A (p.Leu1202=) c.3366G>A (p.Leu1122=) c.1917G>A (p.Leu639=) n.3447G>A | |
| 4 | g.5565321A= | CA1435391994 | EVC2 | c.3596T= (p.Leu1199=) c.3356T= (p.Leu1119=) c.*1989T= (n.*1989T=) c.3605T= (p.Leu1202=) c.3365T= (p.Leu1122=) c.1916T= (p.Leu639=) n.3446T= | |
| 4 | g.5565321A>C | CA356148105 | EVC2 | c.3596T>G (p.Leu1199Arg) c.3356T>G (p.Leu1119Arg) c.*1989T>G (n.*1989T>G) c.3605T>G (p.Leu1202Arg) c.3365T>G (p.Leu1122Arg) c.1916T>G (p.Leu639Arg) n.3446T>G | |
| 4 | g.5565321A>G | CA356148106 | EVC2 | c.3596T>C (p.Leu1199Pro) c.3356T>C (p.Leu1119Pro) c.*1989T>C (n.*1989T>C) c.3605T>C (p.Leu1202Pro) c.3365T>C (p.Leu1122Pro) c.1916T>C (p.Leu639Pro) n.3446T>C | |
| 4 | g.5565321A>T | CA356148107 | EVC2 | c.3596T>A (p.Leu1199Gln) c.3356T>A (p.Leu1119Gln) c.*1989T>A (n.*1989T>A) c.3605T>A (p.Leu1202Gln) c.3365T>A (p.Leu1122Gln) c.1916T>A (p.Leu639Gln) n.3446T>A | dbSNP gnomAD v4 |
| 4 | g.5565322G>A | CA438203174 | EVC2 | c.3595C>T (p.Leu1199=) c.3355C>T (p.Leu1119=) c.*1988C>T (n.*1988C>T) c.3604C>T (p.Leu1202=) c.3364C>T (p.Leu1122=) c.1915C>T (p.Leu639=) n.3445C>T | |
| 4 | g.5565322G>C | CA356148108 | EVC2 | c.3595C>G (p.Leu1199Val) c.3355C>G (p.Leu1119Val) c.*1988C>G (n.*1988C>G) c.3604C>G (p.Leu1202Val) c.3364C>G (p.Leu1122Val) c.1915C>G (p.Leu639Val) n.3445C>G | |
| 4 | g.5565322G>T | CA356148109 | EVC2 | c.3595C>A (p.Leu1199Met) c.3355C>A (p.Leu1119Met) c.*1988C>A (n.*1988C>A) c.3604C>A (p.Leu1202Met) c.3364C>A (p.Leu1122Met) c.1915C>A (p.Leu639Met) n.3445C>A | |
| 4 | g.5565323T>A | CA356148110 | EVC2 | c.3594A>T (p.Lys1198Asn) c.3354A>T (p.Lys1118Asn) c.*1987A>T (n.*1987A>T) c.3603A>T (p.Lys1201Asn) c.3363A>T (p.Lys1121Asn) c.1914A>T (p.Lys638Asn) n.3444A>T | |
| 4 | g.5565323T>C | CA438203175 | EVC2 | c.3594A>G (p.Lys1198=) c.3354A>G (p.Lys1118=) c.*1987A>G (n.*1987A>G) c.3603A>G (p.Lys1201=) c.3363A>G (p.Lys1121=) c.1914A>G (p.Lys638=) n.3444A>G | |
| 4 | g.5565323T>G | CA356148111 | EVC2 | c.3594A>C (p.Lys1198Asn) c.3354A>C (p.Lys1118Asn) c.*1987A>C (n.*1987A>C) c.3603A>C (p.Lys1201Asn) c.3363A>C (p.Lys1121Asn) c.1914A>C (p.Lys638Asn) n.3444A>C | |
| 4 | g.5565324T>A | CA356148114 | EVC2 | c.3593A>T (p.Lys1198Ile) c.3353A>T (p.Lys1118Ile) c.*1986A>T (n.*1986A>T) c.3602A>T (p.Lys1201Ile) c.3362A>T (p.Lys1121Ile) c.1913A>T (p.Lys638Ile) n.3443A>T | gnomAD v4 |
| 4 | g.5565324T>C | CA356148113 | EVC2 | c.3593A>G (p.Lys1198Arg) c.3353A>G (p.Lys1118Arg) c.*1986A>G (n.*1986A>G) c.3602A>G (p.Lys1201Arg) c.3362A>G (p.Lys1121Arg) c.1913A>G (p.Lys638Arg) n.3443A>G | |
| 4 | g.5565324T>G | CA356148112 | EVC2 | c.3593A>C (p.Lys1198Thr) c.3353A>C (p.Lys1118Thr) c.*1986A>C (n.*1986A>C) c.3602A>C (p.Lys1201Thr) c.3362A>C (p.Lys1121Thr) c.1913A>C (p.Lys638Thr) n.3443A>C | gnomAD v4 |
| 4 | g.5565325T>A | CA356148115 | EVC2 | c.3592A>T (p.Lys1198Ter) c.3352A>T (p.Lys1118Ter) c.*1985A>T (n.*1985A>T) c.3601A>T (p.Lys1201Ter) c.3361A>T (p.Lys1121Ter) c.1912A>T (p.Lys638Ter) n.3442A>T | |
| 4 | g.5565325T>C | CA356148117 | EVC2 | c.3592A>G (p.Lys1198Glu) c.3352A>G (p.Lys1118Glu) c.*1985A>G (n.*1985A>G) c.3601A>G (p.Lys1201Glu) c.3361A>G (p.Lys1121Glu) c.1912A>G (p.Lys638Glu) n.3442A>G | |
| 4 | g.5565325T>G | CA356148116 | EVC2 | c.3592A>C (p.Lys1198Gln) c.3352A>C (p.Lys1118Gln) c.*1985A>C (n.*1985A>C) c.3601A>C (p.Lys1201Gln) c.3361A>C (p.Lys1121Gln) c.1912A>C (p.Lys638Gln) n.3442A>C | |
| 4 | g.5565326G>A | CA438203176 | EVC2 | c.3591C>T (p.Gly1197=) c.3351C>T (p.Gly1117=) c.*1984C>T (n.*1984C>T) c.3600C>T (p.Gly1200=) c.3360C>T (p.Gly1120=) c.1911C>T (p.Gly637=) n.3441C>T | dbSNP |
| 4 | g.5565326G>C | CA438203177 | EVC2 | c.3591C>G (p.Gly1197=) c.3351C>G (p.Gly1117=) c.*1984C>G (n.*1984C>G) c.3600C>G (p.Gly1200=) c.3360C>G (p.Gly1120=) c.1911C>G (p.Gly637=) n.3441C>G | |
| 4 | g.5565326G= | CA1435391995 | EVC2 | c.3591C= (p.Gly1197=) c.3351C= (p.Gly1117=) c.*1984C= (n.*1984C=) c.3600C= (p.Gly1200=) c.3360C= (p.Gly1120=) c.1911C= (p.Gly637=) n.3441C= | |
| 4 | g.5565326G>T | CA2834251 | EVC2 | c.3591C>A (p.Gly1197=) c.3351C>A (p.Gly1117=) c.*1984C>A (n.*1984C>A) c.3600C>A (p.Gly1200=) c.3360C>A (p.Gly1120=) c.1911C>A (p.Gly637=) n.3441C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5565327C>A | CA356148119 | EVC2 | c.3590G>T (p.Gly1197Val) c.3350G>T (p.Gly1117Val) c.*1983G>T (n.*1983G>T) c.3599G>T (p.Gly1200Val) c.3359G>T (p.Gly1120Val) c.1910G>T (p.Gly637Val) n.3440G>T | |
| 4 | g.5565327C>G | CA356148118 | EVC2 | c.3590G>C (p.Gly1197Ala) c.3350G>C (p.Gly1117Ala) c.*1983G>C (n.*1983G>C) c.3599G>C (p.Gly1200Ala) c.3359G>C (p.Gly1120Ala) c.1910G>C (p.Gly637Ala) n.3440G>C | |
| 4 | g.5565327C>T | CA356148120 | EVC2 | c.3590G>A (p.Gly1197Asp) c.3350G>A (p.Gly1117Asp) c.*1983G>A (n.*1983G>A) c.3599G>A (p.Gly1200Asp) c.3359G>A (p.Gly1120Asp) c.1910G>A (p.Gly637Asp) n.3440G>A | gnomAD v4 |
| 4 | g.5565328C>A | CA356148121 | EVC2 | c.3589G>T (p.Gly1197Cys) c.3349G>T (p.Gly1117Cys) c.*1982G>T (n.*1982G>T) c.3598G>T (p.Gly1200Cys) c.3358G>T (p.Gly1120Cys) c.1909G>T (p.Gly637Cys) n.3439G>T | |
| 4 | g.5565328C= | CA1435391996 | EVC2 | c.3589G= (p.Gly1197=) c.3349G= (p.Gly1117=) c.*1982G= (n.*1982G=) c.3598G= (p.Gly1200=) c.3358G= (p.Gly1120=) c.1909G= (p.Gly637=) n.3439G= | |
| 4 | g.5565328C>G | CA356148123 | EVC2 | c.3589G>C (p.Gly1197Arg) c.3349G>C (p.Gly1117Arg) c.*1982G>C (n.*1982G>C) c.3598G>C (p.Gly1200Arg) c.3358G>C (p.Gly1120Arg) c.1909G>C (p.Gly637Arg) n.3439G>C | |
| 4 | g.5565328C>T | CA356148122 | EVC2 | c.3589G>A (p.Gly1197Ser) c.3349G>A (p.Gly1117Ser) c.*1982G>A (n.*1982G>A) c.3598G>A (p.Gly1200Ser) c.3358G>A (p.Gly1120Ser) c.1909G>A (p.Gly637Ser) n.3439G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5565329A= | CA1435391997 | EVC2 | c.3588T= (p.Asp1196=) c.3348T= (p.Asp1116=) c.*1981T= (n.*1981T=) c.3597T= (p.Asp1199=) c.3357T= (p.Asp1119=) c.1908T= (p.Asp636=) n.3438T= | |
| 4 | g.5565329A>C | CA356148124 | EVC2 | c.3588T>G (p.Asp1196Glu) c.3348T>G (p.Asp1116Glu) c.*1981T>G (n.*1981T>G) c.3597T>G (p.Asp1199Glu) c.3357T>G (p.Asp1119Glu) c.1908T>G (p.Asp636Glu) n.3438T>G | |
| 4 | g.5565329A>G | CA438203178 | EVC2 | c.3588T>C (p.Asp1196=) c.3348T>C (p.Asp1116=) c.*1981T>C (n.*1981T>C) c.3597T>C (p.Asp1199=) c.3357T>C (p.Asp1119=) c.1908T>C (p.Asp636=) n.3438T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565329A>T | CA356148125 | EVC2 | c.3588T>A (p.Asp1196Glu) c.3348T>A (p.Asp1116Glu) c.*1981T>A (n.*1981T>A) c.3597T>A (p.Asp1199Glu) c.3357T>A (p.Asp1119Glu) c.1908T>A (p.Asp636Glu) n.3438T>A | |
| 4 | g.5565330T>A | CA356148126 | EVC2 | c.3587A>T (p.Asp1196Val) c.3347A>T (p.Asp1116Val) c.*1980A>T (n.*1980A>T) c.3596A>T (p.Asp1199Val) c.3356A>T (p.Asp1119Val) c.1907A>T (p.Asp636Val) n.3437A>T | |
| 4 | g.5565330T>C | CA2834252 | EVC2 | c.3587A>G (p.Asp1196Gly) c.3347A>G (p.Asp1116Gly) c.*1980A>G (n.*1980A>G) c.3596A>G (p.Asp1199Gly) c.3356A>G (p.Asp1119Gly) c.1907A>G (p.Asp636Gly) n.3437A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565330T>G | CA356148127 | EVC2 | c.3587A>C (p.Asp1196Ala) c.3347A>C (p.Asp1116Ala) c.*1980A>C (n.*1980A>C) c.3596A>C (p.Asp1199Ala) c.3356A>C (p.Asp1119Ala) c.1907A>C (p.Asp636Ala) n.3437A>C | |
| 4 | g.5565330T= | CA1435391998 | EVC2 | c.3587A= (p.Asp1196=) c.3347A= (p.Asp1116=) c.*1980A= (n.*1980A=) c.3596A= (p.Asp1199=) c.3356A= (p.Asp1119=) c.1907A= (p.Asp636=) n.3437A= | |
| 4 | g.5565331C>A | CA356148128 | EVC2 | c.3586G>T (p.Asp1196Tyr) c.3346G>T (p.Asp1116Tyr) c.*1979G>T (n.*1979G>T) c.3595G>T (p.Asp1199Tyr) c.3355G>T (p.Asp1119Tyr) c.1906G>T (p.Asp636Tyr) n.3436G>T | gnomAD v4 |
| 4 | g.5565331C>G | CA356148130 | EVC2 | c.3586G>C (p.Asp1196His) c.3346G>C (p.Asp1116His) c.*1979G>C (n.*1979G>C) c.3595G>C (p.Asp1199His) c.3355G>C (p.Asp1119His) c.1906G>C (p.Asp636His) n.3436G>C | |
| 4 | g.5565331C>T | CA356148129 | EVC2 | c.3586G>A (p.Asp1196Asn) c.3346G>A (p.Asp1116Asn) c.*1979G>A (n.*1979G>A) c.3595G>A (p.Asp1199Asn) c.3355G>A (p.Asp1119Asn) c.1906G>A (p.Asp636Asn) n.3436G>A | gnomAD v4 COSMIC COSMIC |
| 4 | g.5565332T>A | CA356148131 | EVC2 | c.3585A>T (p.Leu1195Phe) c.3345A>T (p.Leu1115Phe) c.*1978A>T (n.*1978A>T) c.3594A>T (p.Leu1198Phe) c.3354A>T (p.Leu1118Phe) c.1905A>T (p.Leu635Phe) n.3435A>T | |
| 4 | g.5565332T>C | CA438203179 | EVC2 | c.3585A>G (p.Leu1195=) c.3345A>G (p.Leu1115=) c.*1978A>G (n.*1978A>G) c.3594A>G (p.Leu1198=) c.3354A>G (p.Leu1118=) c.1905A>G (p.Leu635=) n.3435A>G | gnomAD v4 |
| 4 | g.5565332T>G | CA356148132 | EVC2 | c.3585A>C (p.Leu1195Phe) c.3345A>C (p.Leu1115Phe) c.*1978A>C (n.*1978A>C) c.3594A>C (p.Leu1198Phe) c.3354A>C (p.Leu1118Phe) c.1905A>C (p.Leu635Phe) n.3435A>C | |
| 4 | g.5565333A= | CA1435391999 | EVC2 | c.3584T= (p.Leu1195=) c.3344T= (p.Leu1115=) c.*1977T= (n.*1977T=) c.3593T= (p.Leu1198=) c.3353T= (p.Leu1118=) c.1904T= (p.Leu635=) n.3434T= | |
| 4 | g.5565333A>C | CA356148133 | EVC2 | c.3584T>G (p.Leu1195Ter) c.3344T>G (p.Leu1115Ter) c.*1977T>G (n.*1977T>G) c.3593T>G (p.Leu1198Ter) c.3353T>G (p.Leu1118Ter) c.1904T>G (p.Leu635Ter) n.3434T>G | |
| 4 | g.5565333A>G | CA2834253 | EVC2 | c.3584T>C (p.Leu1195Ser) c.3344T>C (p.Leu1115Ser) c.*1977T>C (n.*1977T>C) c.3593T>C (p.Leu1198Ser) c.3353T>C (p.Leu1118Ser) c.1904T>C (p.Leu635Ser) n.3434T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5565333A>T | CA356148134 | EVC2 | c.3584T>A (p.Leu1195Ter) c.3344T>A (p.Leu1115Ter) c.*1977T>A (n.*1977T>A) c.3593T>A (p.Leu1198Ter) c.3353T>A (p.Leu1118Ter) c.1904T>A (p.Leu635Ter) n.3434T>A | |
| 4 | g.5565334A>C | CA356148135 | EVC2 | c.3583T>G (p.Leu1195Val) c.3343T>G (p.Leu1115Val) c.*1976T>G (n.*1976T>G) c.3592T>G (p.Leu1198Val) c.3352T>G (p.Leu1118Val) c.1903T>G (p.Leu635Val) n.3433T>G | |
| 4 | g.5565334A>G | CA438203180 | EVC2 | c.3583T>C (p.Leu1195=) c.3343T>C (p.Leu1115=) c.*1976T>C (n.*1976T>C) c.3592T>C (p.Leu1198=) c.3352T>C (p.Leu1118=) c.1903T>C (p.Leu635=) n.3433T>C | |
| 4 | g.5565334A>T | CA356148136 | EVC2 | c.3583T>A (p.Leu1195Ile) c.3343T>A (p.Leu1115Ile) c.*1976T>A (n.*1976T>A) c.3592T>A (p.Leu1198Ile) c.3352T>A (p.Leu1118Ile) c.1903T>A (p.Leu635Ile) n.3433T>A | |
| 4 | g.5565335G>A | CA2834254 | EVC2 | c.3582C>T (p.Ala1194=) c.3342C>T (p.Ala1114=) c.*1975C>T (n.*1975C>T) c.3591C>T (p.Ala1197=) c.3351C>T (p.Ala1117=) c.1902C>T (p.Ala634=) n.3432C>T | dbSNP ExAC gnomAD v2 |
| 4 | g.5565335G>C | CA438203181 | EVC2 | c.3582C>G (p.Ala1194=) c.3342C>G (p.Ala1114=) c.*1975C>G (n.*1975C>G) c.3591C>G (p.Ala1197=) c.3351C>G (p.Ala1117=) c.1902C>G (p.Ala634=) n.3432C>G | |
| 4 | g.5565335G= | CA1435392000 | EVC2 | c.3582C= (p.Ala1194=) c.3342C= (p.Ala1114=) c.*1975C= (n.*1975C=) c.3591C= (p.Ala1197=) c.3351C= (p.Ala1117=) c.1902C= (p.Ala634=) n.3432C= | |
| 4 | g.5565335G>T | CA438203182 | EVC2 | c.3582C>A (p.Ala1194=) c.3342C>A (p.Ala1114=) c.*1975C>A (n.*1975C>A) c.3591C>A (p.Ala1197=) c.3351C>A (p.Ala1117=) c.1902C>A (p.Ala634=) n.3432C>A | |
| 4 | g.5565336G>A | CA356148137 | EVC2 | c.3581C>T (p.Ala1194Val) c.3341C>T (p.Ala1114Val) c.*1974C>T (n.*1974C>T) c.3590C>T (p.Ala1197Val) c.3350C>T (p.Ala1117Val) c.1901C>T (p.Ala634Val) n.3431C>T | gnomAD v4 |
| 4 | g.5565336G>C | CA356148138 | EVC2 | c.3581C>G (p.Ala1194Gly) c.3341C>G (p.Ala1114Gly) c.*1974C>G (n.*1974C>G) c.3590C>G (p.Ala1197Gly) c.3350C>G (p.Ala1117Gly) c.1901C>G (p.Ala634Gly) n.3431C>G | |
| 4 | g.5565336G>T | CA356148139 | EVC2 | c.3581C>A (p.Ala1194Asp) c.3341C>A (p.Ala1114Asp) c.*1974C>A (n.*1974C>A) c.3590C>A (p.Ala1197Asp) c.3350C>A (p.Ala1117Asp) c.1901C>A (p.Ala634Asp) n.3431C>A | |
| 4 | g.5565337C>A | CA356148140 | EVC2 | c.3580G>T (p.Ala1194Ser) c.3340G>T (p.Ala1114Ser) c.*1973G>T (n.*1973G>T) c.3589G>T (p.Ala1197Ser) c.3349G>T (p.Ala1117Ser) c.1900G>T (p.Ala634Ser) n.3430G>T | |
| 4 | g.5565337C>G | CA356148141 | EVC2 | c.3580G>C (p.Ala1194Pro) c.3340G>C (p.Ala1114Pro) c.*1973G>C (n.*1973G>C) c.3589G>C (p.Ala1197Pro) c.3349G>C (p.Ala1117Pro) c.1900G>C (p.Ala634Pro) n.3430G>C | |
| 4 | g.5565337C>T | CA356148142 | EVC2 | c.3580G>A (p.Ala1194Thr) c.3340G>A (p.Ala1114Thr) c.*1973G>A (n.*1973G>A) c.3589G>A (p.Ala1197Thr) c.3349G>A (p.Ala1117Thr) c.1900G>A (p.Ala634Thr) n.3430G>A | |
| 4 | g.5565338T>A | CA356148143 | EVC2 | c.3579A>T (p.Gln1193His) c.3339A>T (p.Gln1113His) c.*1972A>T (n.*1972A>T) c.3588A>T (p.Gln1196His) c.3348A>T (p.Gln1116His) c.1899A>T (p.Gln633His) n.3429A>T | |
| 4 | g.5565338T>C | CA438203183 | EVC2 | c.3579A>G (p.Gln1193=) c.3339A>G (p.Gln1113=) c.*1972A>G (n.*1972A>G) c.3588A>G (p.Gln1196=) c.3348A>G (p.Gln1116=) c.1899A>G (p.Gln633=) n.3429A>G | |
| 4 | g.5565338T>G | CA356148144 | EVC2 | c.3579A>C (p.Gln1193His) c.3339A>C (p.Gln1113His) c.*1972A>C (n.*1972A>C) c.3588A>C (p.Gln1196His) c.3348A>C (p.Gln1116His) c.1899A>C (p.Gln633His) n.3429A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565338T= | CA1435392001 | EVC2 | c.3579A= (p.Gln1193=) c.3339A= (p.Gln1113=) c.*1972A= (n.*1972A=) c.3588A= (p.Gln1196=) c.3348A= (p.Gln1116=) c.1899A= (p.Gln633=) n.3429A= | |
| 4 | g.5565339T>A | CA356148145 | EVC2 | c.3578A>T (p.Gln1193Leu) c.3338A>T (p.Gln1113Leu) c.*1971A>T (n.*1971A>T) c.3587A>T (p.Gln1196Leu) c.3347A>T (p.Gln1116Leu) c.1898A>T (p.Gln633Leu) n.3428A>T | |
| 4 | g.5565339T>C | CA356148146 | EVC2 | c.3578A>G (p.Gln1193Arg) c.3338A>G (p.Gln1113Arg) c.*1971A>G (n.*1971A>G) c.3587A>G (p.Gln1196Arg) c.3347A>G (p.Gln1116Arg) c.1898A>G (p.Gln633Arg) n.3428A>G | |
| 4 | g.5565339T>G | CA356148147 | EVC2 | c.3578A>C (p.Gln1193Pro) c.3338A>C (p.Gln1113Pro) c.*1971A>C (n.*1971A>C) c.3587A>C (p.Gln1196Pro) c.3347A>C (p.Gln1116Pro) c.1898A>C (p.Gln633Pro) n.3428A>C | |
| 4 | g.5565340G>A | CA356148148 | EVC2 | c.3577C>T (p.Gln1193Ter) c.3337C>T (p.Gln1113Ter) c.*1970C>T (n.*1970C>T) c.3586C>T (p.Gln1196Ter) c.3346C>T (p.Gln1116Ter) c.1897C>T (p.Gln633Ter) n.3427C>T | |
| 4 | g.5565340G>C | CA356148149 | EVC2 | c.3577C>G (p.Gln1193Glu) c.3337C>G (p.Gln1113Glu) c.*1970C>G (n.*1970C>G) c.3586C>G (p.Gln1196Glu) c.3346C>G (p.Gln1116Glu) c.1897C>G (p.Gln633Glu) n.3427C>G | gnomAD v4 |
| 4 | g.5565340G>T | CA356148150 | EVC2 | c.3577C>A (p.Gln1193Lys) c.3337C>A (p.Gln1113Lys) c.*1970C>A (n.*1970C>A) c.3586C>A (p.Gln1196Lys) c.3346C>A (p.Gln1116Lys) c.1897C>A (p.Gln633Lys) n.3427C>A | |
| 4 | g.5565341C>A | CA356148151 | EVC2 | c.3576G>T (p.Trp1192Cys) c.3336G>T (p.Trp1112Cys) c.*1969G>T (n.*1969G>T) c.3585G>T (p.Trp1195Cys) c.3345G>T (p.Trp1115Cys) c.1896G>T (p.Trp632Cys) n.3426G>T | |
| 4 | g.5565341C>G | CA356148152 | EVC2 | c.3576G>C (p.Trp1192Cys) c.3336G>C (p.Trp1112Cys) c.*1969G>C (n.*1969G>C) c.3585G>C (p.Trp1195Cys) c.3345G>C (p.Trp1115Cys) c.1896G>C (p.Trp632Cys) n.3426G>C | |
| 4 | g.5565341C>T | CA356148153 | EVC2 | c.3576G>A (p.Trp1192Ter) c.3336G>A (p.Trp1112Ter) c.*1969G>A (n.*1969G>A) c.3585G>A (p.Trp1195Ter) c.3345G>A (p.Trp1115Ter) c.1896G>A (p.Trp632Ter) n.3426G>A | |
| 4 | g.5565342C>A | CA356148154 | EVC2 | c.3575G>T (p.Trp1192Leu) c.3335G>T (p.Trp1112Leu) c.*1968G>T (n.*1968G>T) c.3584G>T (p.Trp1195Leu) c.3344G>T (p.Trp1115Leu) c.1895G>T (p.Trp632Leu) n.3425G>T | |
| 4 | g.5565342C= | CA1435392002 | EVC2 | c.3575G= (p.Trp1192=) c.3335G= (p.Trp1112=) c.*1968G= (n.*1968G=) c.3584G= (p.Trp1195=) c.3344G= (p.Trp1115=) c.1895G= (p.Trp632=) n.3425G= | |
| 4 | g.5565342C>G | CA356148155 | EVC2 | c.3575G>C (p.Trp1192Ser) c.3335G>C (p.Trp1112Ser) c.*1968G>C (n.*1968G>C) c.3584G>C (p.Trp1195Ser) c.3344G>C (p.Trp1115Ser) c.1895G>C (p.Trp632Ser) n.3425G>C | |
| 4 | g.5565342C>T | CA356148156 | EVC2 | c.3575G>A (p.Trp1192Ter) c.3335G>A (p.Trp1112Ter) c.*1968G>A (n.*1968G>A) c.3584G>A (p.Trp1195Ter) c.3344G>A (p.Trp1115Ter) c.1895G>A (p.Trp632Ter) n.3425G>A | dbSNP |
| 4 | g.5565343A>C | CA356148157 | EVC2 | c.3574T>G (p.Trp1192Gly) c.3334T>G (p.Trp1112Gly) c.*1967T>G (n.*1967T>G) c.3583T>G (p.Trp1195Gly) c.3343T>G (p.Trp1115Gly) c.1894T>G (p.Trp632Gly) n.3424T>G | |
| 4 | g.5565343A>G | CA356148159 | EVC2 | c.3574T>C (p.Trp1192Arg) c.3334T>C (p.Trp1112Arg) c.*1967T>C (n.*1967T>C) c.3583T>C (p.Trp1195Arg) c.3343T>C (p.Trp1115Arg) c.1894T>C (p.Trp632Arg) n.3424T>C | |
| 4 | g.5565343A>T | CA356148158 | EVC2 | c.3574T>A (p.Trp1192Arg) c.3334T>A (p.Trp1112Arg) c.*1967T>A (n.*1967T>A) c.3583T>A (p.Trp1195Arg) c.3343T>A (p.Trp1115Arg) c.1894T>A (p.Trp632Arg) n.3424T>A | |
| 4 | g.5565344C>A | CA356148160 | EVC2 | c.3573G>T (p.Trp1191Cys) c.3333G>T (p.Trp1111Cys) c.*1966G>T (n.*1966G>T) c.3582G>T (p.Trp1194Cys) c.3342G>T (p.Trp1114Cys) c.1893G>T (p.Trp631Cys) n.3423G>T | |
| 4 | g.5565344C= | CA1435392003 | EVC2 | c.3573G= (p.Trp1191=) c.3333G= (p.Trp1111=) c.*1966G= (n.*1966G=) c.3582G= (p.Trp1194=) c.3342G= (p.Trp1114=) c.1893G= (p.Trp631=) n.3423G= | |
| 4 | g.5565344C>G | CA356148161 | EVC2 | c.3573G>C (p.Trp1191Cys) c.3333G>C (p.Trp1111Cys) c.*1966G>C (n.*1966G>C) c.3582G>C (p.Trp1194Cys) c.3342G>C (p.Trp1114Cys) c.1893G>C (p.Trp631Cys) n.3423G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565344C>T | CA356148162 | EVC2 | c.3573G>A (p.Trp1191Ter) c.3333G>A (p.Trp1111Ter) c.*1966G>A (n.*1966G>A) c.3582G>A (p.Trp1194Ter) c.3342G>A (p.Trp1114Ter) c.1893G>A (p.Trp631Ter) n.3423G>A | dbSNP |
| 4 | g.5565345C>A | CA356148163 | EVC2 | c.3572G>T (p.Trp1191Leu) c.3332G>T (p.Trp1111Leu) c.*1965G>T (n.*1965G>T) c.3581G>T (p.Trp1194Leu) c.3341G>T (p.Trp1114Leu) c.1892G>T (p.Trp631Leu) n.3422G>T | gnomAD v4 |
| 4 | g.5565345C>G | CA356148164 | EVC2 | c.3572G>C (p.Trp1191Ser) c.3332G>C (p.Trp1111Ser) c.*1965G>C (n.*1965G>C) c.3581G>C (p.Trp1194Ser) c.3341G>C (p.Trp1114Ser) c.1892G>C (p.Trp631Ser) n.3422G>C | |
| 4 | g.5565345C>T | CA356148165 | EVC2 | c.3572G>A (p.Trp1191Ter) c.3332G>A (p.Trp1111Ter) c.*1965G>A (n.*1965G>A) c.3581G>A (p.Trp1194Ter) c.3341G>A (p.Trp1114Ter) c.1892G>A (p.Trp631Ter) n.3422G>A | |
| 4 | g.5565346A>C | CA356148166 | EVC2 | c.3571T>G (p.Trp1191Gly) c.3331T>G (p.Trp1111Gly) c.*1964T>G (n.*1964T>G) c.3580T>G (p.Trp1194Gly) c.3340T>G (p.Trp1114Gly) c.1891T>G (p.Trp631Gly) n.3421T>G | |
| 4 | g.5565346A>G | CA356148167 | EVC2 | c.3571T>C (p.Trp1191Arg) c.3331T>C (p.Trp1111Arg) c.*1964T>C (n.*1964T>C) c.3580T>C (p.Trp1194Arg) c.3340T>C (p.Trp1114Arg) c.1891T>C (p.Trp631Arg) n.3421T>C | |
| 4 | g.5565346A>T | CA356148168 | EVC2 | c.3571T>A (p.Trp1191Arg) c.3331T>A (p.Trp1111Arg) c.*1964T>A (n.*1964T>A) c.3580T>A (p.Trp1194Arg) c.3340T>A (p.Trp1114Arg) c.1891T>A (p.Trp631Arg) n.3421T>A | |
| 4 | g.5565347G>A | CA91688713 | EVC2 | c.3570C>T (p.Ser1190=) c.3330C>T (p.Ser1110=) c.*1963C>T (n.*1963C>T) c.3579C>T (p.Ser1193=) c.3339C>T (p.Ser1113=) c.1890C>T (p.Ser630=) n.3420C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.5565347G>C | CA91688714 | EVC2 | c.3570C>G (p.Ser1190Arg) c.3330C>G (p.Ser1110Arg) c.*1963C>G (n.*1963C>G) c.3579C>G (p.Ser1193Arg) c.3339C>G (p.Ser1113Arg) c.1890C>G (p.Ser630Arg) n.3420C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565347G= | CA1435392004 | EVC2 | c.3570C= (p.Ser1190=) c.3330C= (p.Ser1110=) c.*1963C= (n.*1963C=) c.3579C= (p.Ser1193=) c.3339C= (p.Ser1113=) c.1890C= (p.Ser630=) n.3420C= | |
| 4 | g.5565347G>T | CA356148169 | EVC2 | c.3570C>A (p.Ser1190Arg) c.3330C>A (p.Ser1110Arg) c.*1963C>A (n.*1963C>A) c.3579C>A (p.Ser1193Arg) c.3339C>A (p.Ser1113Arg) c.1890C>A (p.Ser630Arg) n.3420C>A | |
| 4 | g.5565348C>A | CA356148172 | EVC2 | c.3569G>T (p.Ser1190Ile) c.3329G>T (p.Ser1110Ile) c.*1962G>T (n.*1962G>T) c.3578G>T (p.Ser1193Ile) c.3338G>T (p.Ser1113Ile) c.1889G>T (p.Ser630Ile) n.3419G>T | dbSNP |
| 4 | g.5565348C>G | CA356148170 | EVC2 | c.3569G>C (p.Ser1190Thr) c.3329G>C (p.Ser1110Thr) c.*1962G>C (n.*1962G>C) c.3578G>C (p.Ser1193Thr) c.3338G>C (p.Ser1113Thr) c.1889G>C (p.Ser630Thr) n.3419G>C | |
| 4 | g.5565348C>T | CA356148171 | EVC2 | c.3569G>A (p.Ser1190Asn) c.3329G>A (p.Ser1110Asn) c.*1962G>A (n.*1962G>A) c.3578G>A (p.Ser1193Asn) c.3338G>A (p.Ser1113Asn) c.1889G>A (p.Ser630Asn) n.3419G>A | gnomAD v4 |
| 4 | g.5565349T>A | CA356148173 | EVC2 | c.3568A>T (p.Ser1190Cys) c.3328A>T (p.Ser1110Cys) c.*1961A>T (n.*1961A>T) c.3577A>T (p.Ser1193Cys) c.3337A>T (p.Ser1113Cys) c.1888A>T (p.Ser630Cys) n.3418A>T | |
| 4 | g.5565349T>C | CA356148174 | EVC2 | c.3568A>G (p.Ser1190Gly) c.3328A>G (p.Ser1110Gly) c.*1961A>G (n.*1961A>G) c.3577A>G (p.Ser1193Gly) c.3337A>G (p.Ser1113Gly) c.1888A>G (p.Ser630Gly) n.3418A>G | |
| 4 | g.5565349T>G | CA356148175 | EVC2 | c.3568A>C (p.Ser1190Arg) c.3328A>C (p.Ser1110Arg) c.*1961A>C (n.*1961A>C) c.3577A>C (p.Ser1193Arg) c.3337A>C (p.Ser1113Arg) c.1888A>C (p.Ser630Arg) n.3418A>C | |
| 4 | g.5565350C>A | CA356148176 | EVC2 | c.3567G>T (p.Gln1189His) c.3327G>T (p.Gln1109His) c.*1960G>T (n.*1960G>T) c.3576G>T (p.Gln1192His) c.3336G>T (p.Gln1112His) c.1887G>T (p.Gln629His) n.3417G>T | |
| 4 | g.5565350C>G | CA356148177 | EVC2 | c.3567G>C (p.Gln1189His) c.3327G>C (p.Gln1109His) c.*1960G>C (n.*1960G>C) c.3576G>C (p.Gln1192His) c.3336G>C (p.Gln1112His) c.1887G>C (p.Gln629His) n.3417G>C | |
| 4 | g.5565350C>T | CA438203184 | EVC2 | c.3567G>A (p.Gln1189=) c.3327G>A (p.Gln1109=) c.*1960G>A (n.*1960G>A) c.3576G>A (p.Gln1192=) c.3336G>A (p.Gln1112=) c.1887G>A (p.Gln629=) n.3417G>A | |
| 4 | g.5565351T>A | CA356148178 | EVC2 | c.3566A>T (p.Gln1189Leu) c.3326A>T (p.Gln1109Leu) c.*1959A>T (n.*1959A>T) c.3575A>T (p.Gln1192Leu) c.3335A>T (p.Gln1112Leu) c.1886A>T (p.Gln629Leu) n.3416A>T | |
| 4 | g.5565351T>C | CA356148179 | EVC2 | c.3566A>G (p.Gln1189Arg) c.3326A>G (p.Gln1109Arg) c.*1959A>G (n.*1959A>G) c.3575A>G (p.Gln1192Arg) c.3335A>G (p.Gln1112Arg) c.1886A>G (p.Gln629Arg) n.3416A>G | gnomAD v4 |
| 4 | g.5565351T>G | CA356148180 | EVC2 | c.3566A>C (p.Gln1189Pro) c.3326A>C (p.Gln1109Pro) c.*1959A>C (n.*1959A>C) c.3575A>C (p.Gln1192Pro) c.3335A>C (p.Gln1112Pro) c.1886A>C (p.Gln629Pro) n.3416A>C | |
| 4 | g.5565352G>A | CA356148181 | EVC2 | c.3565C>T (p.Gln1189Ter) c.3325C>T (p.Gln1109Ter) c.*1958C>T (n.*1958C>T) c.3574C>T (p.Gln1192Ter) c.3334C>T (p.Gln1112Ter) c.1885C>T (p.Gln629Ter) n.3415C>T | gnomAD v4 |
| 4 | g.5565352G>C | CA356148182 | EVC2 | c.3565C>G (p.Gln1189Glu) c.3325C>G (p.Gln1109Glu) c.*1958C>G (n.*1958C>G) c.3574C>G (p.Gln1192Glu) c.3334C>G (p.Gln1112Glu) c.1885C>G (p.Gln629Glu) n.3415C>G | |
| 4 | g.5565352G>T | CA356148183 | EVC2 | c.3565C>A (p.Gln1189Lys) c.3325C>A (p.Gln1109Lys) c.*1958C>A (n.*1958C>A) c.3574C>A (p.Gln1192Lys) c.3334C>A (p.Gln1112Lys) c.1885C>A (p.Gln629Lys) n.3415C>A | |
| 4 | g.5565353G>A | CA438203185 | EVC2 | c.3564C>T (p.His1188=) c.3324C>T (p.His1108=) c.*1957C>T (n.*1957C>T) c.3573C>T (p.His1191=) c.3333C>T (p.His1111=) c.1884C>T (p.His628=) n.3414C>T | ClinVar |
| 4 | g.5565353G>C | CA356148185 | EVC2 | c.3564C>G (p.His1188Gln) c.3324C>G (p.His1108Gln) c.*1957C>G (n.*1957C>G) c.3573C>G (p.His1191Gln) c.3333C>G (p.His1111Gln) c.1884C>G (p.His628Gln) n.3414C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565353G= | CA1435392005 | EVC2 | c.3564C= (p.His1188=) c.3324C= (p.His1108=) c.*1957C= (n.*1957C=) c.3573C= (p.His1191=) c.3333C= (p.His1111=) c.1884C= (p.His628=) n.3414C= | |
| 4 | g.5565353G>T | CA356148184 | EVC2 | c.3564C>A (p.His1188Gln) c.3324C>A (p.His1108Gln) c.*1957C>A (n.*1957C>A) c.3573C>A (p.His1191Gln) c.3333C>A (p.His1111Gln) c.1884C>A (p.His628Gln) n.3414C>A | |
| 4 | g.5565354T>A | CA356148186 | EVC2 | c.3563A>T (p.His1188Leu) c.3323A>T (p.His1108Leu) c.*1956A>T (n.*1956A>T) c.3572A>T (p.His1191Leu) c.3332A>T (p.His1111Leu) c.1883A>T (p.His628Leu) n.3413A>T | |
| 4 | g.5565354T>C | CA356148188 | EVC2 | c.3563A>G (p.His1188Arg) c.3323A>G (p.His1108Arg) c.*1956A>G (n.*1956A>G) c.3572A>G (p.His1191Arg) c.3332A>G (p.His1111Arg) c.1883A>G (p.His628Arg) n.3413A>G | gnomAD v4 |
| 4 | g.5565354T>G | CA356148187 | EVC2 | c.3563A>C (p.His1188Pro) c.3323A>C (p.His1108Pro) c.*1956A>C (n.*1956A>C) c.3572A>C (p.His1191Pro) c.3332A>C (p.His1111Pro) c.1883A>C (p.His628Pro) n.3413A>C | |
| 4 | g.5565355G>A | CA356148189 | EVC2 | c.3562C>T (p.His1188Tyr) c.3322C>T (p.His1108Tyr) c.*1955C>T (n.*1955C>T) c.3571C>T (p.His1191Tyr) c.3331C>T (p.His1111Tyr) c.1882C>T (p.His628Tyr) n.3412C>T | gnomAD v4 |
| 4 | g.5565355G>C | CA356148190 | EVC2 | c.3562C>G (p.His1188Asp) c.3322C>G (p.His1108Asp) c.*1955C>G (n.*1955C>G) c.3571C>G (p.His1191Asp) c.3331C>G (p.His1111Asp) c.1882C>G (p.His628Asp) n.3412C>G | dbSNP |
| 4 | g.5565355G= | CA1435392006 | EVC2 | c.3562C= (p.His1188=) c.3322C= (p.His1108=) c.*1955C= (n.*1955C=) c.3571C= (p.His1191=) c.3331C= (p.His1111=) c.1882C= (p.His628=) n.3412C= | |
| 4 | g.5565355G>T | CA356148191 | EVC2 | c.3562C>A (p.His1188Asn) c.3322C>A (p.His1108Asn) c.*1955C>A (n.*1955C>A) c.3571C>A (p.His1191Asn) c.3331C>A (p.His1111Asn) c.1882C>A (p.His628Asn) n.3412C>A | |
| 4 | g.5565356T>A | CA91688715 | EVC2 | c.3561A>T (p.Lys1187Asn) c.3321A>T (p.Lys1107Asn) c.*1954A>T (n.*1954A>T) c.3570A>T (p.Lys1190Asn) c.3330A>T (p.Lys1110Asn) c.1881A>T (p.Lys627Asn) n.3411A>T | dbSNP gnomAD v4 |
| 4 | g.5565356T>C | CA2834255 | EVC2 | c.3561A>G (p.Lys1187=) c.3321A>G (p.Lys1107=) c.*1954A>G (n.*1954A>G) c.3570A>G (p.Lys1190=) c.3330A>G (p.Lys1110=) c.1881A>G (p.Lys627=) n.3411A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565356T>G | CA356148192 | EVC2 | c.3561A>C (p.Lys1187Asn) c.3321A>C (p.Lys1107Asn) c.*1954A>C (n.*1954A>C) c.3570A>C (p.Lys1190Asn) c.3330A>C (p.Lys1110Asn) c.1881A>C (p.Lys627Asn) n.3411A>C | gnomAD v4 |
| 4 | g.5565356T= | CA1435392007 | EVC2 | c.3561A= (p.Lys1187=) c.3321A= (p.Lys1107=) c.*1954A= (n.*1954A=) c.3570A= (p.Lys1190=) c.3330A= (p.Lys1110=) c.1881A= (p.Lys627=) n.3411A= | |
| 4 | g.5565357T>A | CA356148193 | EVC2 | c.3560A>T (p.Lys1187Ile) c.3320A>T (p.Lys1107Ile) c.*1953A>T (n.*1953A>T) c.3569A>T (p.Lys1190Ile) c.3329A>T (p.Lys1110Ile) c.1880A>T (p.Lys627Ile) n.3410A>T | |
| 4 | g.5565357T>C | CA356148194 | EVC2 | c.3560A>G (p.Lys1187Arg) c.3320A>G (p.Lys1107Arg) c.*1953A>G (n.*1953A>G) c.3569A>G (p.Lys1190Arg) c.3329A>G (p.Lys1110Arg) c.1880A>G (p.Lys627Arg) n.3410A>G | |
| 4 | g.5565357T>G | CA356148195 | EVC2 | c.3560A>C (p.Lys1187Thr) c.3320A>C (p.Lys1107Thr) c.*1953A>C (n.*1953A>C) c.3569A>C (p.Lys1190Thr) c.3329A>C (p.Lys1110Thr) c.1880A>C (p.Lys627Thr) n.3410A>C | |
| 4 | g.5565358T>A | CA356148196 | EVC2 | c.3559A>T (p.Lys1187Ter) c.3319A>T (p.Lys1107Ter) c.*1952A>T (n.*1952A>T) c.3568A>T (p.Lys1190Ter) c.3328A>T (p.Lys1110Ter) c.1879A>T (p.Lys627Ter) n.3409A>T | |
| 4 | g.5565358T>C | CA356148197 | EVC2 | c.3559A>G (p.Lys1187Glu) c.3319A>G (p.Lys1107Glu) c.*1952A>G (n.*1952A>G) c.3568A>G (p.Lys1190Glu) c.3328A>G (p.Lys1110Glu) c.1879A>G (p.Lys627Glu) n.3409A>G | |
| 4 | g.5565358T>G | CA356148198 | EVC2 | c.3559A>C (p.Lys1187Gln) c.3319A>C (p.Lys1107Gln) c.*1952A>C (n.*1952A>C) c.3568A>C (p.Lys1190Gln) c.3328A>C (p.Lys1110Gln) c.1879A>C (p.Lys627Gln) n.3409A>C | |
| 4 | g.5565359C>A | CA356148200 | EVC2 | c.3558G>T (p.Arg1186Ser) c.3318G>T (p.Arg1106Ser) c.*1951G>T (n.*1951G>T) c.3567G>T (p.Arg1189Ser) c.3327G>T (p.Arg1109Ser) c.1878G>T (p.Arg626Ser) n.3408G>T | |
| 4 | g.5565359C= | CA1435392008 | EVC2 | c.3558G= (p.Arg1186=) c.3318G= (p.Arg1106=) c.*1951G= (n.*1951G=) c.3567G= (p.Arg1189=) c.3327G= (p.Arg1109=) c.1878G= (p.Arg626=) n.3408G= | |
| 4 | g.5565359C>G | CA356148199 | EVC2 | c.3558G>C (p.Arg1186Ser) c.3318G>C (p.Arg1106Ser) c.*1951G>C (n.*1951G>C) c.3567G>C (p.Arg1189Ser) c.3327G>C (p.Arg1109Ser) c.1878G>C (p.Arg626Ser) n.3408G>C | |
| 4 | g.5565359C>T | CA438203186 | EVC2 | c.3558G>A (p.Arg1186=) c.3318G>A (p.Arg1106=) c.*1951G>A (n.*1951G>A) c.3567G>A (p.Arg1189=) c.3327G>A (p.Arg1109=) c.1878G>A (p.Arg626=) n.3408G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565360C>A | CA356148201 | EVC2 | c.3558-1G>T (n.3558-1G>T) c.3318-1G>T (n.3318-1G>T) c.*1951-1G>T (n.*1951-1G>T) c.3567-1G>T (n.3567-1G>T) c.3327-1G>T (n.3327-1G>T) c.1878-1G>T (n.1878-1G>T) n.3408-1G>T | dbSNP |
| 4 | g.5565360C= | CA1435392009 | EVC2 | c.3558-1G= (n.3558-1G=) c.3318-1G= (n.3318-1G=) c.*1951-1G= (n.*1951-1G=) c.3567-1G= (n.3567-1G=) c.3327-1G= (n.3327-1G=) c.1878-1G= (n.1878-1G=) n.3408-1G= | |
| 4 | g.5565360C>G | CA356148202 | EVC2 | c.3558-1G>C (n.3558-1G>C) c.3318-1G>C (n.3318-1G>C) c.*1951-1G>C (n.*1951-1G>C) c.3567-1G>C (n.3567-1G>C) c.3327-1G>C (n.3327-1G>C) c.1878-1G>C (n.1878-1G>C) n.3408-1G>C | |
| 4 | g.5565360C>T | CA356148203 | EVC2 | c.3558-1G>A (n.3558-1G>A) c.3318-1G>A (n.3318-1G>A) c.*1951-1G>A (n.*1951-1G>A) c.3567-1G>A (n.3567-1G>A) c.3327-1G>A (n.3327-1G>A) c.1878-1G>A (n.1878-1G>A) n.3408-1G>A | |
| 4 | g.5565361T>A | CA356148204 | EVC2 | c.3558-2A>T (n.3558-2A>T) c.3318-2A>T (n.3318-2A>T) c.*1951-2A>T (n.*1951-2A>T) c.3567-2A>T (n.3567-2A>T) c.3327-2A>T (n.3327-2A>T) c.1878-2A>T (n.1878-2A>T) n.3408-2A>T | |
| 4 | g.5565361T>C | CA356148205 | EVC2 | c.3558-2A>G (n.3558-2A>G) c.3318-2A>G (n.3318-2A>G) c.*1951-2A>G (n.*1951-2A>G) c.3567-2A>G (n.3567-2A>G) c.3327-2A>G (n.3327-2A>G) c.1878-2A>G (n.1878-2A>G) n.3408-2A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565361T>G | CA356148206 | EVC2 | c.3558-2A>C (n.3558-2A>C) c.3318-2A>C (n.3318-2A>C) c.*1951-2A>C (n.*1951-2A>C) c.3567-2A>C (n.3567-2A>C) c.3327-2A>C (n.3327-2A>C) c.1878-2A>C (n.1878-2A>C) n.3408-2A>C | |
| 4 | g.5565361T= | CA1435392010 | EVC2 | c.3558-2A= (n.3558-2A=) c.3318-2A= (n.3318-2A=) c.*1951-2A= (n.*1951-2A=) c.3567-2A= (n.3567-2A=) c.3327-2A= (n.3327-2A=) c.1878-2A= (n.1878-2A=) n.3408-2A= | |
| 4 | g.5565362G= | CA1435392011 | EVC2 | c.3558-3C= (n.3558-3C=) c.3318-3C= (n.3318-3C=) c.*1951-3C= (n.*1951-3C=) c.3567-3C= (n.3567-3C=) c.3327-3C= (n.3327-3C=) c.1878-3C= (n.1878-3C=) n.3408-3C= | |
| 4 | g.5565362G>T | CA549394925 | EVC2 | c.3558-3C>A (n.3558-3C>A) c.3318-3C>A (n.3318-3C>A) c.*1951-3C>A (n.*1951-3C>A) c.3567-3C>A (n.3567-3C>A) c.3327-3C>A (n.3327-3C>A) c.1878-3C>A (n.1878-3C>A) n.3408-3C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5565363C>A | CA2834256 | EVC2 | c.3558-4G>T (n.3558-4G>T) c.3318-4G>T (n.3318-4G>T) c.*1951-4G>T (n.*1951-4G>T) c.3567-4G>T (n.3567-4G>T) c.3327-4G>T (n.3327-4G>T) c.1878-4G>T (n.1878-4G>T) n.3408-4G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5565363C= | CA1435392012 | EVC2 | c.3558-4G= (n.3558-4G=) c.3318-4G= (n.3318-4G=) c.*1951-4G= (n.*1951-4G=) c.3567-4G= (n.3567-4G=) c.3327-4G= (n.3327-4G=) c.1878-4G= (n.1878-4G=) n.3408-4G= | |
| 4 | g.5565363C>G | CA1435392013 | EVC2 | c.3558-4G>C (n.3558-4G>C) c.3318-4G>C (n.3318-4G>C) c.*1951-4G>C (n.*1951-4G>C) c.3567-4G>C (n.3567-4G>C) c.3327-4G>C (n.3327-4G>C) c.1878-4G>C (n.1878-4G>C) n.3408-4G>C | dbSNP gnomAD v4 |
| 4 | g.5565363C>T | CA1435392014 | EVC2 | c.3558-4G>A (n.3558-4G>A) c.3318-4G>A (n.3318-4G>A) c.*1951-4G>A (n.*1951-4G>A) c.3567-4G>A (n.3567-4G>A) c.3327-4G>A (n.3327-4G>A) c.1878-4G>A (n.1878-4G>A) n.3408-4G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.5565364A= | CA1435392015 | EVC2 | c.3558-5T= (n.3558-5T=) c.3318-5T= (n.3318-5T=) c.*1951-5T= (n.*1951-5T=) c.3567-5T= (n.3567-5T=) c.3327-5T= (n.3327-5T=) c.1878-5T= (n.1878-5T=) n.3408-5T= | |
| 4 | g.5565364A>C | CA796434629 | EVC2 | c.3558-5T>G (n.3558-5T>G) c.3318-5T>G (n.3318-5T>G) c.*1951-5T>G (n.*1951-5T>G) c.3567-5T>G (n.3567-5T>G) c.3327-5T>G (n.3327-5T>G) c.1878-5T>G (n.1878-5T>G) n.3408-5T>G | dbSNP |
| 4 | g.5565365G>A | CA2834257 | EVC2 | c.3558-6C>T (n.3558-6C>T) c.3318-6C>T (n.3318-6C>T) c.*1951-6C>T (n.*1951-6C>T) c.3567-6C>T (n.3567-6C>T) c.3327-6C>T (n.3327-6C>T) c.1878-6C>T (n.1878-6C>T) n.3408-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5565365G>C | CA91688727 | EVC2 | c.3558-6C>G (n.3558-6C>G) c.3318-6C>G (n.3318-6C>G) c.*1951-6C>G (n.*1951-6C>G) c.3567-6C>G (n.3567-6C>G) c.3327-6C>G (n.3327-6C>G) c.1878-6C>G (n.1878-6C>G) n.3408-6C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.5565365G= | CA1435392016 | EVC2 | c.3558-6C= (n.3558-6C=) c.3318-6C= (n.3318-6C=) c.*1951-6C= (n.*1951-6C=) c.3567-6C= (n.3567-6C=) c.3327-6C= (n.3327-6C=) c.1878-6C= (n.1878-6C=) n.3408-6C= | |
| 4 | g.5565366G>A | CA2499217286 | EVC2 | c.3558-7C>T (n.3558-7C>T) c.3318-7C>T (n.3318-7C>T) c.*1951-7C>T (n.*1951-7C>T) c.3567-7C>T (n.3567-7C>T) c.3327-7C>T (n.3327-7C>T) c.1878-7C>T (n.1878-7C>T) n.3408-7C>T | ClinVar dbSNP gnomAD v4 |