| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5563012_5563013delinsCA | CA1435390893 | EVC2 | c.3762_3763delinsTG (p.Pro1254=) c.3522_3523delinsTG (p.Pro1174=) c.3419+2245_3419+2246delinsTG (n.3419+2245_3419+2246delinsTG) c.*2155_*2156delinsTG (n.*2155_*2156delinsTG) c.3771_3772delinsTG (p.Pro1257=) c.3668+2245_3668+2246delinsTG (n.3668+2245_3668+2246delinsTG) c.3531_3532delinsTG (p.Pro1177=) c.2082_2083delinsTG (p.Pro694=) n.3612_3613delinsTG | |
| 4 | g.5563013del | CA915944120 | EVC2 | c.3762del (p.Val1255TyrfsTer4) c.3522del (p.Val1175TyrfsTer4) c.3419+2245del (n.3419+2245del) c.*2155del (n.*2155del) c.3771del (p.Val1258TyrfsTer4) c.3668+2245del (n.3668+2245del) c.3531del (p.Val1178TyrfsTer4) c.2082del (p.Val695TyrfsTer4) n.3612del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5563013A= | CA1435390894 | EVC2 | c.3762T= (p.Pro1254=) c.3522T= (p.Pro1174=) c.3419+2245T= (n.3419+2245T=) c.*2155T= (n.*2155T=) c.3771T= (p.Pro1257=) c.3668+2245T= (n.3668+2245T=) c.3531T= (p.Pro1177=) c.2082T= (p.Pro694=) n.3612T= | |
| 4 | g.5563013A>C | CA438203071 | EVC2 | c.3762T>G (p.Pro1254=) c.3522T>G (p.Pro1174=) c.3419+2245T>G (n.3419+2245T>G) c.*2155T>G (n.*2155T>G) c.3771T>G (p.Pro1257=) c.3668+2245T>G (n.3668+2245T>G) c.3531T>G (p.Pro1177=) c.2082T>G (p.Pro694=) n.3612T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5563013A>G | CA438203072 | EVC2 | c.3762T>C (p.Pro1254=) c.3522T>C (p.Pro1174=) c.3419+2245T>C (n.3419+2245T>C) c.*2155T>C (n.*2155T>C) c.3771T>C (p.Pro1257=) c.3668+2245T>C (n.3668+2245T>C) c.3531T>C (p.Pro1177=) c.2082T>C (p.Pro694=) n.3612T>C | |
| 4 | g.5563013A>T | CA438203073 | EVC2 | c.3762T>A (p.Pro1254=) c.3522T>A (p.Pro1174=) c.3419+2245T>A (n.3419+2245T>A) c.*2155T>A (n.*2155T>A) c.3771T>A (p.Pro1257=) c.3668+2245T>A (n.3668+2245T>A) c.3531T>A (p.Pro1177=) c.2082T>A (p.Pro694=) n.3612T>A | |
| 4 | g.5563014G>A | CA2834191 | EVC2 | c.3761C>T (p.Pro1254Leu) c.3521C>T (p.Pro1174Leu) c.3419+2244C>T (n.3419+2244C>T) c.*2154C>T (n.*2154C>T) c.3770C>T (p.Pro1257Leu) c.3668+2244C>T (n.3668+2244C>T) c.3530C>T (p.Pro1177Leu) c.2081C>T (p.Pro694Leu) n.3611C>T | dbSNP ExAC gnomAD v4 |
| 4 | g.5563014G>C | CA356146986 | EVC2 | c.3761C>G (p.Pro1254Arg) c.3521C>G (p.Pro1174Arg) c.3419+2244C>G (n.3419+2244C>G) c.*2154C>G (n.*2154C>G) c.3770C>G (p.Pro1257Arg) c.3668+2244C>G (n.3668+2244C>G) c.3530C>G (p.Pro1177Arg) c.2081C>G (p.Pro694Arg) n.3611C>G | |
| 4 | g.5563014G= | CA1435390895 | EVC2 | c.3761C= (p.Pro1254=) c.3521C= (p.Pro1174=) c.3419+2244C= (n.3419+2244C=) c.*2154C= (n.*2154C=) c.3770C= (p.Pro1257=) c.3668+2244C= (n.3668+2244C=) c.3530C= (p.Pro1177=) c.2081C= (p.Pro694=) n.3611C= | |
| 4 | g.5563014G>T | CA356146990 | EVC2 | c.3761C>A (p.Pro1254His) c.3521C>A (p.Pro1174His) c.3419+2244C>A (n.3419+2244C>A) c.*2154C>A (n.*2154C>A) c.3770C>A (p.Pro1257His) c.3668+2244C>A (n.3668+2244C>A) c.3530C>A (p.Pro1177His) c.2081C>A (p.Pro694His) n.3611C>A | |
| 4 | g.5563015G>A | CA356146993 | EVC2 | c.3760C>T (p.Pro1254Ser) c.3520C>T (p.Pro1174Ser) c.3419+2243C>T (n.3419+2243C>T) c.*2153C>T (n.*2153C>T) c.3769C>T (p.Pro1257Ser) c.3668+2243C>T (n.3668+2243C>T) c.3529C>T (p.Pro1177Ser) c.2080C>T (p.Pro694Ser) n.3610C>T | gnomAD v4 |
| 4 | g.5563015G>C | CA356146994 | EVC2 | c.3760C>G (p.Pro1254Ala) c.3520C>G (p.Pro1174Ala) c.3419+2243C>G (n.3419+2243C>G) c.*2153C>G (n.*2153C>G) c.3769C>G (p.Pro1257Ala) c.3668+2243C>G (n.3668+2243C>G) c.3529C>G (p.Pro1177Ala) c.2080C>G (p.Pro694Ala) n.3610C>G | ClinVar gnomAD v4 |
| 4 | g.5563015G>T | CA356146997 | EVC2 | c.3760C>A (p.Pro1254Thr) c.3520C>A (p.Pro1174Thr) c.3419+2243C>A (n.3419+2243C>A) c.*2153C>A (n.*2153C>A) c.3769C>A (p.Pro1257Thr) c.3668+2243C>A (n.3668+2243C>A) c.3529C>A (p.Pro1177Thr) c.2080C>A (p.Pro694Thr) n.3610C>A | |
| 4 | g.5563016G>A | CA91686837 | EVC2 | c.3759C>T (p.Ala1253=) c.3519C>T (p.Ala1173=) c.3419+2242C>T (n.3419+2242C>T) c.*2152C>T (n.*2152C>T) c.3768C>T (p.Ala1256=) c.3668+2242C>T (n.3668+2242C>T) c.3528C>T (p.Ala1176=) c.2079C>T (p.Ala693=) n.3609C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5563016G>C | CA438203074 | EVC2 | c.3759C>G (p.Ala1253=) c.3519C>G (p.Ala1173=) c.3419+2242C>G (n.3419+2242C>G) c.*2152C>G (n.*2152C>G) c.3768C>G (p.Ala1256=) c.3668+2242C>G (n.3668+2242C>G) c.3528C>G (p.Ala1176=) c.2079C>G (p.Ala693=) n.3609C>G | |
| 4 | g.5563016G= | CA1435390896 | EVC2 | c.3759C= (p.Ala1253=) c.3519C= (p.Ala1173=) c.3419+2242C= (n.3419+2242C=) c.*2152C= (n.*2152C=) c.3768C= (p.Ala1256=) c.3668+2242C= (n.3668+2242C=) c.3528C= (p.Ala1176=) c.2079C= (p.Ala693=) n.3609C= | |
| 4 | g.5563016G>T | CA438203075 | EVC2 | c.3759C>A (p.Ala1253=) c.3519C>A (p.Ala1173=) c.3419+2242C>A (n.3419+2242C>A) c.*2152C>A (n.*2152C>A) c.3768C>A (p.Ala1256=) c.3668+2242C>A (n.3668+2242C>A) c.3528C>A (p.Ala1176=) c.2079C>A (p.Ala693=) n.3609C>A | |
| 4 | g.5563017G>A | CA356146999 | EVC2 | c.3758C>T (p.Ala1253Val) c.3518C>T (p.Ala1173Val) c.3419+2241C>T (n.3419+2241C>T) c.*2151C>T (n.*2151C>T) c.3767C>T (p.Ala1256Val) c.3668+2241C>T (n.3668+2241C>T) c.3527C>T (p.Ala1176Val) c.2078C>T (p.Ala693Val) n.3608C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5563017G>C | CA356147002 | EVC2 | c.3758C>G (p.Ala1253Gly) c.3518C>G (p.Ala1173Gly) c.3419+2241C>G (n.3419+2241C>G) c.*2151C>G (n.*2151C>G) c.3767C>G (p.Ala1256Gly) c.3668+2241C>G (n.3668+2241C>G) c.3527C>G (p.Ala1176Gly) c.2078C>G (p.Ala693Gly) n.3608C>G | |
| 4 | g.5563017G= | CA1435390897 | EVC2 | c.3758C= (p.Ala1253=) c.3518C= (p.Ala1173=) c.3419+2241C= (n.3419+2241C=) c.*2151C= (n.*2151C=) c.3767C= (p.Ala1256=) c.3668+2241C= (n.3668+2241C=) c.3527C= (p.Ala1176=) c.2078C= (p.Ala693=) n.3608C= | |
| 4 | g.5563017G>T | CA356147005 | EVC2 | c.3758C>A (p.Ala1253Asp) c.3518C>A (p.Ala1173Asp) c.3419+2241C>A (n.3419+2241C>A) c.*2151C>A (n.*2151C>A) c.3767C>A (p.Ala1256Asp) c.3668+2241C>A (n.3668+2241C>A) c.3527C>A (p.Ala1176Asp) c.2078C>A (p.Ala693Asp) n.3608C>A | |
| 4 | g.5563018C>A | CA356147008 | EVC2 | c.3757G>T (p.Ala1253Ser) c.3517G>T (p.Ala1173Ser) c.3419+2240G>T (n.3419+2240G>T) c.*2150G>T (n.*2150G>T) c.3766G>T (p.Ala1256Ser) c.3668+2240G>T (n.3668+2240G>T) c.3526G>T (p.Ala1176Ser) c.2077G>T (p.Ala693Ser) n.3607G>T | |
| 4 | g.5563018C= | CA1435390898 | EVC2 | c.3757G= (p.Ala1253=) c.3517G= (p.Ala1173=) c.3419+2240G= (n.3419+2240G=) c.*2150G= (n.*2150G=) c.3766G= (p.Ala1256=) c.3668+2240G= (n.3668+2240G=) c.3526G= (p.Ala1176=) c.2077G= (p.Ala693=) n.3607G= | |
| 4 | g.5563018C>G | CA356147009 | EVC2 | c.3757G>C (p.Ala1253Pro) c.3517G>C (p.Ala1173Pro) c.3419+2240G>C (n.3419+2240G>C) c.*2150G>C (n.*2150G>C) c.3766G>C (p.Ala1256Pro) c.3668+2240G>C (n.3668+2240G>C) c.3526G>C (p.Ala1176Pro) c.2077G>C (p.Ala693Pro) n.3607G>C | |
| 4 | g.5563018C>T | CA2834192 | EVC2 | c.3757G>A (p.Ala1253Thr) c.3517G>A (p.Ala1173Thr) c.3419+2240G>A (n.3419+2240G>A) c.*2150G>A (n.*2150G>A) c.3766G>A (p.Ala1256Thr) c.3668+2240G>A (n.3668+2240G>A) c.3526G>A (p.Ala1176Thr) c.2077G>A (p.Ala693Thr) n.3607G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5563019C>A | CA438203076 | EVC2 | c.3756G>T (p.Leu1252=) c.3516G>T (p.Leu1172=) c.3419+2239G>T (n.3419+2239G>T) c.*2149G>T (n.*2149G>T) c.3765G>T (p.Leu1255=) c.3668+2239G>T (n.3668+2239G>T) c.3525G>T (p.Leu1175=) c.2076G>T (p.Leu692=) n.3606G>T | |
| 4 | g.5563019C>G | CA438203077 | EVC2 | c.3756G>C (p.Leu1252=) c.3516G>C (p.Leu1172=) c.3419+2239G>C (n.3419+2239G>C) c.*2149G>C (n.*2149G>C) c.3765G>C (p.Leu1255=) c.3668+2239G>C (n.3668+2239G>C) c.3525G>C (p.Leu1175=) c.2076G>C (p.Leu692=) n.3606G>C | |
| 4 | g.5563019C>T | CA438203078 | EVC2 | c.3756G>A (p.Leu1252=) c.3516G>A (p.Leu1172=) c.3419+2239G>A (n.3419+2239G>A) c.*2149G>A (n.*2149G>A) c.3765G>A (p.Leu1255=) c.3668+2239G>A (n.3668+2239G>A) c.3525G>A (p.Leu1175=) c.2076G>A (p.Leu692=) n.3606G>A | |
| 4 | g.5563020A>C | CA356147013 | EVC2 | c.3755T>G (p.Leu1252Arg) c.3515T>G (p.Leu1172Arg) c.3419+2238T>G (n.3419+2238T>G) c.*2148T>G (n.*2148T>G) c.3764T>G (p.Leu1255Arg) c.3668+2238T>G (n.3668+2238T>G) c.3524T>G (p.Leu1175Arg) c.2075T>G (p.Leu692Arg) n.3605T>G | |
| 4 | g.5563020A>G | CA356147018 | EVC2 | c.3755T>C (p.Leu1252Pro) c.3515T>C (p.Leu1172Pro) c.3419+2238T>C (n.3419+2238T>C) c.*2148T>C (n.*2148T>C) c.3764T>C (p.Leu1255Pro) c.3668+2238T>C (n.3668+2238T>C) c.3524T>C (p.Leu1175Pro) c.2075T>C (p.Leu692Pro) n.3605T>C | |
| 4 | g.5563020A>T | CA356147016 | EVC2 | c.3755T>A (p.Leu1252Gln) c.3515T>A (p.Leu1172Gln) c.3419+2238T>A (n.3419+2238T>A) c.*2148T>A (n.*2148T>A) c.3764T>A (p.Leu1255Gln) c.3668+2238T>A (n.3668+2238T>A) c.3524T>A (p.Leu1175Gln) c.2075T>A (p.Leu692Gln) n.3605T>A | |
| 4 | g.5563021G>A | CA438203079 | EVC2 | c.3754C>T (p.Leu1252=) c.3514C>T (p.Leu1172=) c.3419+2237C>T (n.3419+2237C>T) c.*2147C>T (n.*2147C>T) c.3763C>T (p.Leu1255=) c.3668+2237C>T (n.3668+2237C>T) c.3523C>T (p.Leu1175=) c.2074C>T (p.Leu692=) n.3604C>T | |
| 4 | g.5563021G>C | CA356147020 | EVC2 | c.3754C>G (p.Leu1252Val) c.3514C>G (p.Leu1172Val) c.3419+2237C>G (n.3419+2237C>G) c.*2147C>G (n.*2147C>G) c.3763C>G (p.Leu1255Val) c.3668+2237C>G (n.3668+2237C>G) c.3523C>G (p.Leu1175Val) c.2074C>G (p.Leu692Val) n.3604C>G | gnomAD v4 |
| 4 | g.5563021G>T | CA356147023 | EVC2 | c.3754C>A (p.Leu1252Met) c.3514C>A (p.Leu1172Met) c.3419+2237C>A (n.3419+2237C>A) c.*2147C>A (n.*2147C>A) c.3763C>A (p.Leu1255Met) c.3668+2237C>A (n.3668+2237C>A) c.3523C>A (p.Leu1175Met) c.2074C>A (p.Leu692Met) n.3604C>A | gnomAD v4 |
| 4 | g.5563022T>A | CA356147025 | EVC2 | c.3753A>T (p.Glu1251Asp) c.3513A>T (p.Glu1171Asp) c.3419+2236A>T (n.3419+2236A>T) c.*2146A>T (n.*2146A>T) c.3762A>T (p.Glu1254Asp) c.3668+2236A>T (n.3668+2236A>T) c.3522A>T (p.Glu1174Asp) c.2073A>T (p.Glu691Asp) n.3603A>T | |
| 4 | g.5563022T>C | CA438203080 | EVC2 | c.3753A>G (p.Glu1251=) c.3513A>G (p.Glu1171=) c.3419+2236A>G (n.3419+2236A>G) c.*2146A>G (n.*2146A>G) c.3762A>G (p.Glu1254=) c.3668+2236A>G (n.3668+2236A>G) c.3522A>G (p.Glu1174=) c.2073A>G (p.Glu691=) n.3603A>G | |
| 4 | g.5563022T>G | CA356147027 | EVC2 | c.3753A>C (p.Glu1251Asp) c.3513A>C (p.Glu1171Asp) c.3419+2236A>C (n.3419+2236A>C) c.*2146A>C (n.*2146A>C) c.3762A>C (p.Glu1254Asp) c.3668+2236A>C (n.3668+2236A>C) c.3522A>C (p.Glu1174Asp) c.2073A>C (p.Glu691Asp) n.3603A>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5563022T= | CA1435390899 | EVC2 | c.3753A= (p.Glu1251=) c.3513A= (p.Glu1171=) c.3419+2236A= (n.3419+2236A=) c.*2146A= (n.*2146A=) c.3762A= (p.Glu1254=) c.3668+2236A= (n.3668+2236A=) c.3522A= (p.Glu1174=) c.2073A= (p.Glu691=) n.3603A= | |
| 4 | g.5563022_5563023insCTG | CA3047144709 | EVC2 | c.3752_3753insCAG (p.Glu1251delinsAspArg) c.3512_3513insCAG (p.Glu1171delinsAspArg) c.3419+2235_3419+2236insCAG (n.3419+2235_3419+2236insCAG) c.*2145_*2146insCAG (n.*2145_*2146insCAG) c.3761_3762insCAG (p.Glu1254delinsAspArg) c.3668+2235_3668+2236insCAG (n.3668+2235_3668+2236insCAG) c.3521_3522insCAG (p.Glu1174delinsAspArg) c.2072_2073insCAG (p.Glu691delinsAspArg) n.3602_3603insCAG | |
| 4 | g.5563023T>A | CA356147032 | EVC2 | c.3752A>T (p.Glu1251Val) c.3512A>T (p.Glu1171Val) c.3419+2235A>T (n.3419+2235A>T) c.*2145A>T (n.*2145A>T) c.3761A>T (p.Glu1254Val) c.3668+2235A>T (n.3668+2235A>T) c.3521A>T (p.Glu1174Val) c.2072A>T (p.Glu691Val) n.3602A>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5563023T>C | CA356147034 | EVC2 | c.3752A>G (p.Glu1251Gly) c.3512A>G (p.Glu1171Gly) c.3419+2235A>G (n.3419+2235A>G) c.*2145A>G (n.*2145A>G) c.3761A>G (p.Glu1254Gly) c.3668+2235A>G (n.3668+2235A>G) c.3521A>G (p.Glu1174Gly) c.2072A>G (p.Glu691Gly) n.3602A>G | |
| 4 | g.5563023T>G | CA356147036 | EVC2 | c.3752A>C (p.Glu1251Ala) c.3512A>C (p.Glu1171Ala) c.3419+2235A>C (n.3419+2235A>C) c.*2145A>C (n.*2145A>C) c.3761A>C (p.Glu1254Ala) c.3668+2235A>C (n.3668+2235A>C) c.3521A>C (p.Glu1174Ala) c.2072A>C (p.Glu691Ala) n.3602A>C | |
| 4 | g.5563023T= | CA1435390900 | EVC2 | c.3752A= (p.Glu1251=) c.3512A= (p.Glu1171=) c.3419+2235A= (n.3419+2235A=) c.*2145A= (n.*2145A=) c.3761A= (p.Glu1254=) c.3668+2235A= (n.3668+2235A=) c.3521A= (p.Glu1174=) c.2072A= (p.Glu691=) n.3602A= | |
| 4 | g.5563024C>A | CA356147040 | EVC2 | c.3751G>T (p.Glu1251Ter) c.3511G>T (p.Glu1171Ter) c.3419+2234G>T (n.3419+2234G>T) c.*2144G>T (n.*2144G>T) c.3760G>T (p.Glu1254Ter) c.3668+2234G>T (n.3668+2234G>T) c.3520G>T (p.Glu1174Ter) c.2071G>T (p.Glu691Ter) n.3601G>T | ClinVar dbSNP |
| 4 | g.5563024C= | CA1435390901 | EVC2 | c.3751G= (p.Glu1251=) c.3511G= (p.Glu1171=) c.3419+2234G= (n.3419+2234G=) c.*2144G= (n.*2144G=) c.3760G= (p.Glu1254=) c.3668+2234G= (n.3668+2234G=) c.3520G= (p.Glu1174=) c.2071G= (p.Glu691=) n.3601G= | |
| 4 | g.5563024C>G | CA356147045 | EVC2 | c.3751G>C (p.Glu1251Gln) c.3511G>C (p.Glu1171Gln) c.3419+2234G>C (n.3419+2234G>C) c.*2144G>C (n.*2144G>C) c.3760G>C (p.Glu1254Gln) c.3668+2234G>C (n.3668+2234G>C) c.3520G>C (p.Glu1174Gln) c.2071G>C (p.Glu691Gln) n.3601G>C | |
| 4 | g.5563024C>T | CA2834193 | EVC2 | c.3751G>A (p.Glu1251Lys) c.3511G>A (p.Glu1171Lys) c.3419+2234G>A (n.3419+2234G>A) c.*2144G>A (n.*2144G>A) c.3760G>A (p.Glu1254Lys) c.3668+2234G>A (n.3668+2234G>A) c.3520G>A (p.Glu1174Lys) c.2071G>A (p.Glu691Lys) n.3601G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5563025G>A | CA2834194 | EVC2 | c.3750C>T (p.Gly1250=) c.3510C>T (p.Gly1170=) c.3419+2233C>T (n.3419+2233C>T) c.*2143C>T (n.*2143C>T) c.3759C>T (p.Gly1253=) c.3668+2233C>T (n.3668+2233C>T) c.3519C>T (p.Gly1173=) c.2070C>T (p.Gly690=) n.3600C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.5563025G>C | CA438203081 | EVC2 | c.3750C>G (p.Gly1250=) c.3510C>G (p.Gly1170=) c.3419+2233C>G (n.3419+2233C>G) c.*2143C>G (n.*2143C>G) c.3759C>G (p.Gly1253=) c.3668+2233C>G (n.3668+2233C>G) c.3519C>G (p.Gly1173=) c.2070C>G (p.Gly690=) n.3600C>G | ClinVar |
| 4 | g.5563025G= | CA1435390902 | EVC2 | c.3750C= (p.Gly1250=) c.3510C= (p.Gly1170=) c.3419+2233C= (n.3419+2233C=) c.*2143C= (n.*2143C=) c.3759C= (p.Gly1253=) c.3668+2233C= (n.3668+2233C=) c.3519C= (p.Gly1173=) c.2070C= (p.Gly690=) n.3600C= |