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.5618445T>C | CA796437321 | EVC2 | c.2706+33A>G (n.2706+33A>G) c.2466+33A>G (n.2466+33A>G) c.*1099+33A>G (n.*1099+33A>G) c.2715+33A>G (n.2715+33A>G) c.2475+33A>G (n.2475+33A>G) c.1026+33A>G (n.1026+33A>G) n.2771+33A>G | dbSNP gnomAD v4 |
| 4 | g.5618445T= | CA1435421417 | EVC2 | c.2706+33A= (n.2706+33A=) c.2466+33A= (n.2466+33A=) c.*1099+33A= (n.*1099+33A=) c.2715+33A= (n.2715+33A=) c.2475+33A= (n.2475+33A=) c.1026+33A= (n.1026+33A=) n.2771+33A= | |
| 4 | g.5618446T>C | CA914902029 | EVC2 | c.2706+32A>G (n.2706+32A>G) c.2466+32A>G (n.2466+32A>G) c.*1099+32A>G (n.*1099+32A>G) c.2715+32A>G (n.2715+32A>G) c.2475+32A>G (n.2475+32A>G) c.1026+32A>G (n.1026+32A>G) n.2771+32A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618446T= | CA1435421419 | EVC2 | c.2706+32A= (n.2706+32A=) c.2466+32A= (n.2466+32A=) c.*1099+32A= (n.*1099+32A=) c.2715+32A= (n.2715+32A=) c.2475+32A= (n.2475+32A=) c.1026+32A= (n.1026+32A=) n.2771+32A= | |
| 4 | g.5618448T>C | CA2834616 | EVC2 | c.2706+30A>G (n.2706+30A>G) c.2466+30A>G (n.2466+30A>G) c.*1099+30A>G (n.*1099+30A>G) c.2715+30A>G (n.2715+30A>G) c.2475+30A>G (n.2475+30A>G) c.1026+30A>G (n.1026+30A>G) n.2771+30A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618448T= | CA1435421420 | EVC2 | c.2706+30A= (n.2706+30A=) c.2466+30A= (n.2466+30A=) c.*1099+30A= (n.*1099+30A=) c.2715+30A= (n.2715+30A=) c.2475+30A= (n.2475+30A=) c.1026+30A= (n.1026+30A=) n.2771+30A= | |
| 4 | g.5618450T>C | CA1435421425 | EVC2 | c.2706+28A>G (n.2706+28A>G) c.2466+28A>G (n.2466+28A>G) c.*1099+28A>G (n.*1099+28A>G) c.2715+28A>G (n.2715+28A>G) c.2475+28A>G (n.2475+28A>G) c.1026+28A>G (n.1026+28A>G) n.2771+28A>G | dbSNP gnomAD v4 |
| 4 | g.5618450T= | CA1435421423 | EVC2 | c.2706+28A= (n.2706+28A=) c.2466+28A= (n.2466+28A=) c.*1099+28A= (n.*1099+28A=) c.2715+28A= (n.2715+28A=) c.2475+28A= (n.2475+28A=) c.1026+28A= (n.1026+28A=) n.2771+28A= | |
| 4 | g.5618454C>A | CA549707379 | EVC2 | c.2706+24G>T (n.2706+24G>T) c.2466+24G>T (n.2466+24G>T) c.*1099+24G>T (n.*1099+24G>T) c.2715+24G>T (n.2715+24G>T) c.2475+24G>T (n.2475+24G>T) c.1026+24G>T (n.1026+24G>T) n.2771+24G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618454C= | CA1435421428 | EVC2 | c.2706+24G= (n.2706+24G=) c.2466+24G= (n.2466+24G=) c.*1099+24G= (n.*1099+24G=) c.2715+24G= (n.2715+24G=) c.2475+24G= (n.2475+24G=) c.1026+24G= (n.1026+24G=) n.2771+24G= | |
| 4 | g.5618454C>T | CA2834617 | EVC2 | c.2706+24G>A (n.2706+24G>A) c.2466+24G>A (n.2466+24G>A) c.*1099+24G>A (n.*1099+24G>A) c.2715+24G>A (n.2715+24G>A) c.2475+24G>A (n.2475+24G>A) c.1026+24G>A (n.1026+24G>A) n.2771+24G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618455G>A | CA91696711 | EVC2 | c.2706+23C>T (n.2706+23C>T) c.2466+23C>T (n.2466+23C>T) c.*1099+23C>T (n.*1099+23C>T) c.2715+23C>T (n.2715+23C>T) c.2475+23C>T (n.2475+23C>T) c.1026+23C>T (n.1026+23C>T) n.2771+23C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618455G= | CA1435421431 | EVC2 | c.2706+23C= (n.2706+23C=) c.2466+23C= (n.2466+23C=) c.*1099+23C= (n.*1099+23C=) c.2715+23C= (n.2715+23C=) c.2475+23C= (n.2475+23C=) c.1026+23C= (n.1026+23C=) n.2771+23C= | |
| 4 | g.5618455G>T | CA2669800447 | EVC2 | c.2706+23C>A (n.2706+23C>A) c.2466+23C>A (n.2466+23C>A) c.*1099+23C>A (n.*1099+23C>A) c.2715+23C>A (n.2715+23C>A) c.2475+23C>A (n.2475+23C>A) c.1026+23C>A (n.1026+23C>A) n.2771+23C>A | gnomAD v4 |
| 4 | g.5618456G>A | CA2578032766 | EVC2 | c.2706+22C>T (n.2706+22C>T) c.2466+22C>T (n.2466+22C>T) c.*1099+22C>T (n.*1099+22C>T) c.2715+22C>T (n.2715+22C>T) c.2475+22C>T (n.2475+22C>T) c.1026+22C>T (n.1026+22C>T) n.2771+22C>T | |
| 4 | g.5618457C= | CA1435421433 | EVC2 | c.2706+21G= (n.2706+21G=) c.2466+21G= (n.2466+21G=) c.*1099+21G= (n.*1099+21G=) c.2715+21G= (n.2715+21G=) c.2475+21G= (n.2475+21G=) c.1026+21G= (n.1026+21G=) n.2771+21G= | |
| 4 | g.5618457C>T | CA1435421434 | EVC2 | c.2706+21G>A (n.2706+21G>A) c.2466+21G>A (n.2466+21G>A) c.*1099+21G>A (n.*1099+21G>A) c.2715+21G>A (n.2715+21G>A) c.2475+21G>A (n.2475+21G>A) c.1026+21G>A (n.1026+21G>A) n.2771+21G>A | dbSNP gnomAD v4 |
| 4 | g.5618458C>T | CA2669800448 | EVC2 | c.2706+20G>A (n.2706+20G>A) c.2466+20G>A (n.2466+20G>A) c.*1099+20G>A (n.*1099+20G>A) c.2715+20G>A (n.2715+20G>A) c.2475+20G>A (n.2475+20G>A) c.1026+20G>A (n.1026+20G>A) n.2771+20G>A | gnomAD v4 |
| 4 | g.5618459A>C | CA2669800449 | EVC2 | c.2706+19T>G (n.2706+19T>G) c.2466+19T>G (n.2466+19T>G) c.*1099+19T>G (n.*1099+19T>G) c.2715+19T>G (n.2715+19T>G) c.2475+19T>G (n.2475+19T>G) c.1026+19T>G (n.1026+19T>G) n.2771+19T>G | gnomAD v4 |
| 4 | g.5618461T>C | CA1058834507 | EVC2 | c.2706+17A>G (n.2706+17A>G) c.2466+17A>G (n.2466+17A>G) c.*1099+17A>G (n.*1099+17A>G) c.2715+17A>G (n.2715+17A>G) c.2475+17A>G (n.2475+17A>G) c.1026+17A>G (n.1026+17A>G) n.2771+17A>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618461T= | CA1435421436 | EVC2 | c.2706+17A= (n.2706+17A=) c.2466+17A= (n.2466+17A=) c.*1099+17A= (n.*1099+17A=) c.2715+17A= (n.2715+17A=) c.2475+17A= (n.2475+17A=) c.1026+17A= (n.1026+17A=) n.2771+17A= | |
| 4 | g.5618462G>C | CA2834618 | EVC2 | c.2706+16C>G (n.2706+16C>G) c.2466+16C>G (n.2466+16C>G) c.*1099+16C>G (n.*1099+16C>G) c.2715+16C>G (n.2715+16C>G) c.2475+16C>G (n.2475+16C>G) c.1026+16C>G (n.1026+16C>G) n.2771+16C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618462G= | CA1435421439 | EVC2 | c.2706+16C= (n.2706+16C=) c.2466+16C= (n.2466+16C=) c.*1099+16C= (n.*1099+16C=) c.2715+16C= (n.2715+16C=) c.2475+16C= (n.2475+16C=) c.1026+16C= (n.1026+16C=) n.2771+16C= | |
| 4 | g.5618463A>T | CA2669800450 | EVC2 | c.2706+15T>A (n.2706+15T>A) c.2466+15T>A (n.2466+15T>A) c.*1099+15T>A (n.*1099+15T>A) c.2715+15T>A (n.2715+15T>A) c.2475+15T>A (n.2475+15T>A) c.1026+15T>A (n.1026+15T>A) n.2771+15T>A | gnomAD v4 |
| 4 | g.5618464C>G | CA2669800451 | EVC2 | c.2706+14G>C (n.2706+14G>C) c.2466+14G>C (n.2466+14G>C) c.*1099+14G>C (n.*1099+14G>C) c.2715+14G>C (n.2715+14G>C) c.2475+14G>C (n.2475+14G>C) c.1026+14G>C (n.1026+14G>C) n.2771+14G>C | gnomAD v4 |
| 4 | g.5618465A= | CA1435421444 | EVC2 | c.2706+13T= (n.2706+13T=) c.2466+13T= (n.2466+13T=) c.*1099+13T= (n.*1099+13T=) c.2715+13T= (n.2715+13T=) c.2475+13T= (n.2475+13T=) c.1026+13T= (n.1026+13T=) n.2771+13T= | |
| 4 | g.5618465A>G | CA2834619 | EVC2 | c.2706+13T>C (n.2706+13T>C) c.2466+13T>C (n.2466+13T>C) c.*1099+13T>C (n.*1099+13T>C) c.2715+13T>C (n.2715+13T>C) c.2475+13T>C (n.2475+13T>C) c.1026+13T>C (n.1026+13T>C) n.2771+13T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618465A>T | CA549707380 | EVC2 | c.2706+13T>A (n.2706+13T>A) c.2466+13T>A (n.2466+13T>A) c.*1099+13T>A (n.*1099+13T>A) c.2715+13T>A (n.2715+13T>A) c.2475+13T>A (n.2475+13T>A) c.1026+13T>A (n.1026+13T>A) n.2771+13T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618465_5618468del | CA2669800452 | EVC2 | c.2706+10_2706+13del (n.2706+10_2706+13del) c.2466+10_2466+13del (n.2466+10_2466+13del) c.*1099+10_*1099+13del (n.*1099+10_*1099+13del) c.2715+10_2715+13del (n.2715+10_2715+13del) c.2475+10_2475+13del (n.2475+10_2475+13del) c.1026+10_1026+13del (n.1026+10_1026+13del) n.2771+10_2771+13del | gnomAD v4 |
| 4 | g.5618466G>A | CA2834620 | EVC2 | c.2706+12C>T (n.2706+12C>T) c.2466+12C>T (n.2466+12C>T) c.*1099+12C>T (n.*1099+12C>T) c.2715+12C>T (n.2715+12C>T) c.2475+12C>T (n.2475+12C>T) c.1026+12C>T (n.1026+12C>T) n.2771+12C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618466G= | CA1435421453 | EVC2 | c.2706+12C= (n.2706+12C=) c.2466+12C= (n.2466+12C=) c.*1099+12C= (n.*1099+12C=) c.2715+12C= (n.2715+12C=) c.2475+12C= (n.2475+12C=) c.1026+12C= (n.1026+12C=) n.2771+12C= | |
| 4 | g.5618472_5618509dup | CA2669800453 | EVC2 | c.2681_2706+12dup c.2441_2466+12dup c.*1074_*1099+12dup c.2690_2715+12dup c.2450_2475+12dup c.1001_1026+12dup n.2746_2771+12dup | gnomAD v4 |
| 4 | g.5618467G>C | CA91696771 | EVC2 | c.2706+11C>G (n.2706+11C>G) c.2466+11C>G (n.2466+11C>G) c.*1099+11C>G (n.*1099+11C>G) c.2715+11C>G (n.2715+11C>G) c.2475+11C>G (n.2475+11C>G) c.1026+11C>G (n.1026+11C>G) n.2771+11C>G | ClinVar dbSNP |
| 4 | g.5618467G= | CA1435421456 | EVC2 | c.2706+11C= (n.2706+11C=) c.2466+11C= (n.2466+11C=) c.*1099+11C= (n.*1099+11C=) c.2715+11C= (n.2715+11C=) c.2475+11C= (n.2475+11C=) c.1026+11C= (n.1026+11C=) n.2771+11C= | |
| 4 | g.5618468T>A | CA549707381 | EVC2 | c.2706+10A>T (n.2706+10A>T) c.2466+10A>T (n.2466+10A>T) c.*1099+10A>T (n.*1099+10A>T) c.2715+10A>T (n.2715+10A>T) c.2475+10A>T (n.2475+10A>T) c.1026+10A>T (n.1026+10A>T) n.2771+10A>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618468T>C | CA2740091120 | EVC2 | c.2706+10A>G (n.2706+10A>G) c.2466+10A>G (n.2466+10A>G) c.*1099+10A>G (n.*1099+10A>G) c.2715+10A>G (n.2715+10A>G) c.2475+10A>G (n.2475+10A>G) c.1026+10A>G (n.1026+10A>G) n.2771+10A>G | ClinVar |
| 4 | g.5618468T= | CA1435421459 | EVC2 | c.2706+10A= (n.2706+10A=) c.2466+10A= (n.2466+10A=) c.*1099+10A= (n.*1099+10A=) c.2715+10A= (n.2715+10A=) c.2475+10A= (n.2475+10A=) c.1026+10A= (n.1026+10A=) n.2771+10A= | |
| 4 | g.5618469C>A | CA2669800454 | EVC2 | c.2706+9G>T (n.2706+9G>T) c.2466+9G>T (n.2466+9G>T) c.*1099+9G>T (n.*1099+9G>T) c.2715+9G>T (n.2715+9G>T) c.2475+9G>T (n.2475+9G>T) c.1026+9G>T (n.1026+9G>T) n.2771+9G>T | gnomAD v4 |
| 4 | g.5618471A= | CA1435421461 | EVC2 | c.2706+7T= (n.2706+7T=) c.2466+7T= (n.2466+7T=) c.*1099+7T= (n.*1099+7T=) c.2715+7T= (n.2715+7T=) c.2475+7T= (n.2475+7T=) c.1026+7T= (n.1026+7T=) n.2771+7T= | |
| 4 | g.5618471A>C | CA658796416 | EVC2 | c.2706+7T>G (n.2706+7T>G) c.2466+7T>G (n.2466+7T>G) c.*1099+7T>G (n.*1099+7T>G) c.2715+7T>G (n.2715+7T>G) c.2475+7T>G (n.2475+7T>G) c.1026+7T>G (n.1026+7T>G) n.2771+7T>G | ClinVar dbSNP |
| 4 | g.5618472T>A | CA2834621 | EVC2 | c.2706+6A>T (n.2706+6A>T) c.2466+6A>T (n.2466+6A>T) c.*1099+6A>T (n.*1099+6A>T) c.2715+6A>T (n.2715+6A>T) c.2475+6A>T (n.2475+6A>T) c.1026+6A>T (n.1026+6A>T) n.2771+6A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618472T>C | CA2669800455 | EVC2 | c.2706+6A>G (n.2706+6A>G) c.2466+6A>G (n.2466+6A>G) c.*1099+6A>G (n.*1099+6A>G) c.2715+6A>G (n.2715+6A>G) c.2475+6A>G (n.2475+6A>G) c.1026+6A>G (n.1026+6A>G) n.2771+6A>G | gnomAD v4 |
| 4 | g.5618472T= | CA1435421464 | EVC2 | c.2706+6A= (n.2706+6A=) c.2466+6A= (n.2466+6A=) c.*1099+6A= (n.*1099+6A=) c.2715+6A= (n.2715+6A=) c.2475+6A= (n.2475+6A=) c.1026+6A= (n.1026+6A=) n.2771+6A= | |
| 4 | g.5618473C>A | CA2834622 | EVC2 | c.2706+5G>T (n.2706+5G>T) c.2466+5G>T (n.2466+5G>T) c.*1099+5G>T (n.*1099+5G>T) c.2715+5G>T (n.2715+5G>T) c.2475+5G>T (n.2475+5G>T) c.1026+5G>T (n.1026+5G>T) n.2771+5G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618473C= | CA1435421466 | EVC2 | c.2706+5G= (n.2706+5G=) c.2466+5G= (n.2466+5G=) c.*1099+5G= (n.*1099+5G=) c.2715+5G= (n.2715+5G=) c.2475+5G= (n.2475+5G=) c.1026+5G= (n.1026+5G=) n.2771+5G= | |
| 4 | g.5618474C>T | CA2669800456 | EVC2 | c.2706+4G>A (n.2706+4G>A) c.2466+4G>A (n.2466+4G>A) c.*1099+4G>A (n.*1099+4G>A) c.2715+4G>A (n.2715+4G>A) c.2475+4G>A (n.2475+4G>A) c.1026+4G>A (n.1026+4G>A) n.2771+4G>A | gnomAD v4 |
| 4 | g.5618475T>A | CA2669800457 | EVC2 | c.2706+3A>T (n.2706+3A>T) c.2466+3A>T (n.2466+3A>T) c.*1099+3A>T (n.*1099+3A>T) c.2715+3A>T (n.2715+3A>T) c.2475+3A>T (n.2475+3A>T) c.1026+3A>T (n.1026+3A>T) n.2771+3A>T | gnomAD v4 |
| 4 | g.5618475T>C | CA1435421468 | EVC2 | c.2706+3A>G (n.2706+3A>G) c.2466+3A>G (n.2466+3A>G) c.*1099+3A>G (n.*1099+3A>G) c.2715+3A>G (n.2715+3A>G) c.2475+3A>G (n.2475+3A>G) c.1026+3A>G (n.1026+3A>G) n.2771+3A>G | dbSNP gnomAD v4 |
| 4 | g.5618475T= | CA1435421467 | EVC2 | c.2706+3A= (n.2706+3A=) c.2466+3A= (n.2466+3A=) c.*1099+3A= (n.*1099+3A=) c.2715+3A= (n.2715+3A=) c.2475+3A= (n.2475+3A=) c.1026+3A= (n.1026+3A=) n.2771+3A= | |
| 4 | g.5618476A>C | CA356142827 | EVC2 | c.2706+2T>G (n.2706+2T>G) c.2466+2T>G (n.2466+2T>G) c.*1099+2T>G (n.*1099+2T>G) c.2715+2T>G (n.2715+2T>G) c.2475+2T>G (n.2475+2T>G) c.1026+2T>G (n.1026+2T>G) n.2771+2T>G | |
| 4 | g.5618476A>G | CA356142825 | EVC2 | c.2706+2T>C (n.2706+2T>C) c.2466+2T>C (n.2466+2T>C) c.*1099+2T>C (n.*1099+2T>C) c.2715+2T>C (n.2715+2T>C) c.2475+2T>C (n.2475+2T>C) c.1026+2T>C (n.1026+2T>C) n.2771+2T>C | |
| 4 | g.5618476A>T | CA356142824 | EVC2 | c.2706+2T>A (n.2706+2T>A) c.2466+2T>A (n.2466+2T>A) c.*1099+2T>A (n.*1099+2T>A) c.2715+2T>A (n.2715+2T>A) c.2475+2T>A (n.2475+2T>A) c.1026+2T>A (n.1026+2T>A) n.2771+2T>A | |
| 4 | g.5618477C>A | CA356142830 | EVC2 | c.2706+1G>T (n.2706+1G>T) c.2466+1G>T (n.2466+1G>T) c.*1099+1G>T (n.*1099+1G>T) c.2715+1G>T (n.2715+1G>T) c.2475+1G>T (n.2475+1G>T) c.1026+1G>T (n.1026+1G>T) n.2771+1G>T | |
| 4 | g.5618477C>G | CA356142833 | EVC2 | c.2706+1G>C (n.2706+1G>C) c.2466+1G>C (n.2466+1G>C) c.*1099+1G>C (n.*1099+1G>C) c.2715+1G>C (n.2715+1G>C) c.2475+1G>C (n.2475+1G>C) c.1026+1G>C (n.1026+1G>C) n.2771+1G>C | |
| 4 | g.5618477C>T | CA356142837 | EVC2 | c.2706+1G>A (n.2706+1G>A) c.2466+1G>A (n.2466+1G>A) c.*1099+1G>A (n.*1099+1G>A) c.2715+1G>A (n.2715+1G>A) c.2475+1G>A (n.2475+1G>A) c.1026+1G>A (n.1026+1G>A) n.2771+1G>A | ClinVar dbSNP |
| 4 | g.5618478C>A | CA356142838 | EVC2 | c.2706G>T (p.Gln902His) c.2466G>T (p.Gln822His) c.*1099G>T (n.*1099G>T) c.2715G>T (p.Gln905His) c.2475G>T (p.Gln825His) c.1026G>T (p.Gln342His) n.2771G>T | |
| 4 | g.5618478C= | CA1435421469 | EVC2 | c.2706G= (p.Gln902=) c.2466G= (p.Gln822=) c.*1099G= (n.*1099G=) c.2715G= (p.Gln905=) c.2475G= (p.Gln825=) c.1026G= (p.Gln342=) n.2771G= | |
| 4 | g.5618478C>G | CA2834623 | EVC2 | c.2706G>C (p.Gln902His) c.2466G>C (p.Gln822His) c.*1099G>C (n.*1099G>C) c.2715G>C (p.Gln905His) c.2475G>C (p.Gln825His) c.1026G>C (p.Gln342His) n.2771G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618478C>T | CA2834624 | EVC2 | c.2706G>A (p.Gln902=) c.2466G>A (p.Gln822=) c.*1099G>A (n.*1099G>A) c.2715G>A (p.Gln905=) c.2475G>A (p.Gln825=) c.1026G>A (p.Gln342=) n.2771G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618479T>A | CA356142844 | EVC2 | c.2705A>T (p.Gln902Leu) c.2465A>T (p.Gln822Leu) c.*1098A>T (n.*1098A>T) c.2714A>T (p.Gln905Leu) c.2474A>T (p.Gln825Leu) c.1025A>T (p.Gln342Leu) n.2770A>T | |
| 4 | g.5618479T>C | CA2834625 | EVC2 | c.2705A>G (p.Gln902Arg) c.2465A>G (p.Gln822Arg) c.*1098A>G (n.*1098A>G) c.2714A>G (p.Gln905Arg) c.2474A>G (p.Gln825Arg) c.1025A>G (p.Gln342Arg) n.2770A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618479T>G | CA356142847 | EVC2 | c.2705A>C (p.Gln902Pro) c.2465A>C (p.Gln822Pro) c.*1098A>C (n.*1098A>C) c.2714A>C (p.Gln905Pro) c.2474A>C (p.Gln825Pro) c.1025A>C (p.Gln342Pro) n.2770A>C | |
| 4 | g.5618479T= | CA1435421470 | EVC2 | c.2705A= (p.Gln902=) c.2465A= (p.Gln822=) c.*1098A= (n.*1098A=) c.2714A= (p.Gln905=) c.2474A= (p.Gln825=) c.1025A= (p.Gln342=) n.2770A= | |
| 4 | g.5618480G>A | CA356142850 | EVC2 | c.2704C>T (p.Gln902Ter) c.2464C>T (p.Gln822Ter) c.*1097C>T (n.*1097C>T) c.2713C>T (p.Gln905Ter) c.2473C>T (p.Gln825Ter) c.1024C>T (p.Gln342Ter) n.2769C>T | |
| 4 | g.5618480G>C | CA356142851 | EVC2 | c.2704C>G (p.Gln902Glu) c.2464C>G (p.Gln822Glu) c.*1097C>G (n.*1097C>G) c.2713C>G (p.Gln905Glu) c.2473C>G (p.Gln825Glu) c.1024C>G (p.Gln342Glu) n.2769C>G | |
| 4 | g.5618480G>T | CA356142855 | EVC2 | c.2704C>A (p.Gln902Lys) c.2464C>A (p.Gln822Lys) c.*1097C>A (n.*1097C>A) c.2713C>A (p.Gln905Lys) c.2473C>A (p.Gln825Lys) c.1024C>A (p.Gln342Lys) n.2769C>A | |
| 4 | g.5618481C>A | CA438203766 | EVC2 | c.2703G>T (p.Leu901=) c.2463G>T (p.Leu821=) c.*1096G>T (n.*1096G>T) c.2712G>T (p.Leu904=) c.2472G>T (p.Leu824=) c.1023G>T (p.Leu341=) n.2768G>T | |
| 4 | g.5618481C= | CA1435421471 | EVC2 | c.2703G= (p.Leu901=) c.2463G= (p.Leu821=) c.*1096G= (n.*1096G=) c.2712G= (p.Leu904=) c.2472G= (p.Leu824=) c.1023G= (p.Leu341=) n.2768G= | |
| 4 | g.5618481C>G | CA438203767 | EVC2 | c.2703G>C (p.Leu901=) c.2463G>C (p.Leu821=) c.*1096G>C (n.*1096G>C) c.2712G>C (p.Leu904=) c.2472G>C (p.Leu824=) c.1023G>C (p.Leu341=) n.2768G>C | gnomAD v4 |
| 4 | g.5618481C>T | CA91696804 | EVC2 | c.2703G>A (p.Leu901=) c.2463G>A (p.Leu821=) c.*1096G>A (n.*1096G>A) c.2712G>A (p.Leu904=) c.2472G>A (p.Leu824=) c.1023G>A (p.Leu341=) n.2768G>A | ClinVar dbSNP |
| 4 | g.5618482A= | CA1435421472 | EVC2 | c.2702T= (p.Leu901=) c.2462T= (p.Leu821=) c.*1095T= (n.*1095T=) c.2711T= (p.Leu904=) c.2471T= (p.Leu824=) c.1022T= (p.Leu341=) n.2767T= | |
| 4 | g.5618482A>C | CA356142862 | EVC2 | c.2702T>G (p.Leu901Arg) c.2462T>G (p.Leu821Arg) c.*1095T>G (n.*1095T>G) c.2711T>G (p.Leu904Arg) c.2471T>G (p.Leu824Arg) c.1022T>G (p.Leu341Arg) n.2767T>G | dbSNP |
| 4 | g.5618482A>G | CA356142859 | EVC2 | c.2702T>C (p.Leu901Pro) c.2462T>C (p.Leu821Pro) c.*1095T>C (n.*1095T>C) c.2711T>C (p.Leu904Pro) c.2471T>C (p.Leu824Pro) c.1022T>C (p.Leu341Pro) n.2767T>C | |
| 4 | g.5618482A>T | CA356142857 | EVC2 | c.2702T>A (p.Leu901Gln) c.2462T>A (p.Leu821Gln) c.*1095T>A (n.*1095T>A) c.2711T>A (p.Leu904Gln) c.2471T>A (p.Leu824Gln) c.1022T>A (p.Leu341Gln) n.2767T>A | |
| 4 | g.5618483G>A | CA438203768 | EVC2 | c.2701C>T (p.Leu901=) c.2461C>T (p.Leu821=) c.*1094C>T (n.*1094C>T) c.2710C>T (p.Leu904=) c.2470C>T (p.Leu824=) c.1021C>T (p.Leu341=) n.2766C>T | dbSNP |
| 4 | g.5618483G>C | CA356142865 | EVC2 | c.2701C>G (p.Leu901Val) c.2461C>G (p.Leu821Val) c.*1094C>G (n.*1094C>G) c.2710C>G (p.Leu904Val) c.2470C>G (p.Leu824Val) c.1021C>G (p.Leu341Val) n.2766C>G | |
| 4 | g.5618483G= | CA1435421473 | EVC2 | c.2701C= (p.Leu901=) c.2461C= (p.Leu821=) c.*1094C= (n.*1094C=) c.2710C= (p.Leu904=) c.2470C= (p.Leu824=) c.1021C= (p.Leu341=) n.2766C= | |
| 4 | g.5618483G>T | CA356142867 | EVC2 | c.2701C>A (p.Leu901Met) c.2461C>A (p.Leu821Met) c.*1094C>A (n.*1094C>A) c.2710C>A (p.Leu904Met) c.2470C>A (p.Leu824Met) c.1021C>A (p.Leu341Met) n.2766C>A | |
| 4 | g.5618484C>A | CA356142870 | EVC2 | c.2700G>T (p.Glu900Asp) c.2460G>T (p.Glu820Asp) c.*1093G>T (n.*1093G>T) c.2709G>T (p.Glu903Asp) c.2469G>T (p.Glu823Asp) c.1020G>T (p.Glu340Asp) n.2765G>T | |
| 4 | g.5618484C>G | CA356142873 | EVC2 | c.2700G>C (p.Glu900Asp) c.2460G>C (p.Glu820Asp) c.*1093G>C (n.*1093G>C) c.2709G>C (p.Glu903Asp) c.2469G>C (p.Glu823Asp) c.1020G>C (p.Glu340Asp) n.2765G>C | |
| 4 | g.5618484C>T | CA438203769 | EVC2 | c.2700G>A (p.Glu900=) c.2460G>A (p.Glu820=) c.*1093G>A (n.*1093G>A) c.2709G>A (p.Glu903=) c.2469G>A (p.Glu823=) c.1020G>A (p.Glu340=) n.2765G>A | |
| 4 | g.5618485T>A | CA356142877 | EVC2 | c.2699A>T (p.Glu900Val) c.2459A>T (p.Glu820Val) c.*1092A>T (n.*1092A>T) c.2708A>T (p.Glu903Val) c.2468A>T (p.Glu823Val) c.1019A>T (p.Glu340Val) n.2764A>T | dbSNP |
| 4 | g.5618485T>C | CA356142878 | EVC2 | c.2699A>G (p.Glu900Gly) c.2459A>G (p.Glu820Gly) c.*1092A>G (n.*1092A>G) c.2708A>G (p.Glu903Gly) c.2468A>G (p.Glu823Gly) c.1019A>G (p.Glu340Gly) n.2764A>G | |
| 4 | g.5618485T>G | CA356142880 | EVC2 | c.2699A>C (p.Glu900Ala) c.2459A>C (p.Glu820Ala) c.*1092A>C (n.*1092A>C) c.2708A>C (p.Glu903Ala) c.2468A>C (p.Glu823Ala) c.1019A>C (p.Glu340Ala) n.2764A>C | |
| 4 | g.5618485T= | CA1435421474 | EVC2 | c.2699A= (p.Glu900=) c.2459A= (p.Glu820=) c.*1092A= (n.*1092A=) c.2708A= (p.Glu903=) c.2468A= (p.Glu823=) c.1019A= (p.Glu340=) n.2764A= | |
| 4 | g.5618486C>A | CA356142883 | EVC2 | c.2698G>T (p.Glu900Ter) c.2458G>T (p.Glu820Ter) c.*1091G>T (n.*1091G>T) c.2707G>T (p.Glu903Ter) c.2467G>T (p.Glu823Ter) c.1018G>T (p.Glu340Ter) n.2763G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618486C= | CA1435421475 | EVC2 | c.2698G= (p.Glu900=) c.2458G= (p.Glu820=) c.*1091G= (n.*1091G=) c.2707G= (p.Glu903=) c.2467G= (p.Glu823=) c.1018G= (p.Glu340=) n.2763G= | |
| 4 | g.5618486C>G | CA356142886 | EVC2 | c.2698G>C (p.Glu900Gln) c.2458G>C (p.Glu820Gln) c.*1091G>C (n.*1091G>C) c.2707G>C (p.Glu903Gln) c.2467G>C (p.Glu823Gln) c.1018G>C (p.Glu340Gln) n.2763G>C | gnomAD v4 |
| 4 | g.5618486C>T | CA356142890 | EVC2 | c.2698G>A (p.Glu900Lys) c.2458G>A (p.Glu820Lys) c.*1091G>A (n.*1091G>A) c.2707G>A (p.Glu903Lys) c.2467G>A (p.Glu823Lys) c.1018G>A (p.Glu340Lys) n.2763G>A | |
| 4 | g.5618487A>C | CA438203770 | EVC2 | c.2697T>G (p.Pro899=) c.2457T>G (p.Pro819=) c.*1090T>G (n.*1090T>G) c.2706T>G (p.Pro902=) c.2466T>G (p.Pro822=) c.1017T>G (p.Pro339=) n.2762T>G | |
| 4 | g.5618487A>G | CA438203771 | EVC2 | c.2697T>C (p.Pro899=) c.2457T>C (p.Pro819=) c.*1090T>C (n.*1090T>C) c.2706T>C (p.Pro902=) c.2466T>C (p.Pro822=) c.1017T>C (p.Pro339=) n.2762T>C | |
| 4 | g.5618487A>T | CA438203772 | EVC2 | c.2697T>A (p.Pro899=) c.2457T>A (p.Pro819=) c.*1090T>A (n.*1090T>A) c.2706T>A (p.Pro902=) c.2466T>A (p.Pro822=) c.1017T>A (p.Pro339=) n.2762T>A | |
| 4 | g.5618488G>A | CA356142894 | EVC2 | c.2696C>T (p.Pro899Leu) c.2456C>T (p.Pro819Leu) c.*1089C>T (n.*1089C>T) c.2705C>T (p.Pro902Leu) c.2465C>T (p.Pro822Leu) c.1016C>T (p.Pro339Leu) n.2761C>T | |
| 4 | g.5618488G>C | CA356142897 | EVC2 | c.2696C>G (p.Pro899Arg) c.2456C>G (p.Pro819Arg) c.*1089C>G (n.*1089C>G) c.2705C>G (p.Pro902Arg) c.2465C>G (p.Pro822Arg) c.1016C>G (p.Pro339Arg) n.2761C>G | |
| 4 | g.5618488G>T | CA356142900 | EVC2 | c.2696C>A (p.Pro899His) c.2456C>A (p.Pro819His) c.*1089C>A (n.*1089C>A) c.2705C>A (p.Pro902His) c.2465C>A (p.Pro822His) c.1016C>A (p.Pro339His) n.2761C>A | |
| 4 | g.5618489G>A | CA91696808 | EVC2 | c.2695C>T (p.Pro899Ser) c.2455C>T (p.Pro819Ser) c.*1088C>T (n.*1088C>T) c.2704C>T (p.Pro902Ser) c.2464C>T (p.Pro822Ser) c.1015C>T (p.Pro339Ser) n.2760C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618489G>C | CA2834626 | EVC2 | c.2695C>G (p.Pro899Ala) c.2455C>G (p.Pro819Ala) c.*1088C>G (n.*1088C>G) c.2704C>G (p.Pro902Ala) c.2464C>G (p.Pro822Ala) c.1015C>G (p.Pro339Ala) n.2760C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618489G= | CA1435421477 | EVC2 | c.2695C= (p.Pro899=) c.2455C= (p.Pro819=) c.*1088C= (n.*1088C=) c.2704C= (p.Pro902=) c.2464C= (p.Pro822=) c.1015C= (p.Pro339=) n.2760C= | |
| 4 | g.5618489G>T | CA356142903 | EVC2 | c.2695C>A (p.Pro899Thr) c.2455C>A (p.Pro819Thr) c.*1088C>A (n.*1088C>A) c.2704C>A (p.Pro902Thr) c.2464C>A (p.Pro822Thr) c.1015C>A (p.Pro339Thr) n.2760C>A | |
| 4 | g.5618490G>A | CA438203773 | EVC2 | c.2694C>T (p.Ala898=) c.2454C>T (p.Ala818=) c.*1087C>T (n.*1087C>T) c.2703C>T (p.Ala901=) c.2463C>T (p.Ala821=) c.1014C>T (p.Ala338=) n.2759C>T | |
| 4 | g.5618490G>C | CA438203774 | EVC2 | c.2694C>G (p.Ala898=) c.2454C>G (p.Ala818=) c.*1087C>G (n.*1087C>G) c.2703C>G (p.Ala901=) c.2463C>G (p.Ala821=) c.1014C>G (p.Ala338=) n.2759C>G | ClinVar |
| 4 | g.5618490G>T | CA438203775 | EVC2 | c.2694C>A (p.Ala898=) c.2454C>A (p.Ala818=) c.*1087C>A (n.*1087C>A) c.2703C>A (p.Ala901=) c.2463C>A (p.Ala821=) c.1014C>A (p.Ala338=) n.2759C>A | |
| 4 | g.5618491G>A | CA2834627 | EVC2 | c.2693C>T (p.Ala898Val) c.2453C>T (p.Ala818Val) c.*1086C>T (n.*1086C>T) c.2702C>T (p.Ala901Val) c.2462C>T (p.Ala821Val) c.1013C>T (p.Ala338Val) n.2758C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618491G>C | CA356142907 | EVC2 | c.2693C>G (p.Ala898Gly) c.2453C>G (p.Ala818Gly) c.*1086C>G (n.*1086C>G) c.2702C>G (p.Ala901Gly) c.2462C>G (p.Ala821Gly) c.1013C>G (p.Ala338Gly) n.2758C>G | |
| 4 | g.5618491G= | CA1435421478 | EVC2 | c.2693C= (p.Ala898=) c.2453C= (p.Ala818=) c.*1086C= (n.*1086C=) c.2702C= (p.Ala901=) c.2462C= (p.Ala821=) c.1013C= (p.Ala338=) n.2758C= | |
| 4 | g.5618491G>T | CA356142910 | EVC2 | c.2693C>A (p.Ala898Asp) c.2453C>A (p.Ala818Asp) c.*1086C>A (n.*1086C>A) c.2702C>A (p.Ala901Asp) c.2462C>A (p.Ala821Asp) c.1013C>A (p.Ala338Asp) n.2758C>A | |
| 4 | g.5618492C>A | CA356142912 | EVC2 | c.2692G>T (p.Ala898Ser) c.2452G>T (p.Ala818Ser) c.*1085G>T (n.*1085G>T) c.2701G>T (p.Ala901Ser) c.2461G>T (p.Ala821Ser) c.1012G>T (p.Ala338Ser) n.2757G>T | |
| 4 | g.5618492C>G | CA356142914 | EVC2 | c.2692G>C (p.Ala898Pro) c.2452G>C (p.Ala818Pro) c.*1085G>C (n.*1085G>C) c.2701G>C (p.Ala901Pro) c.2461G>C (p.Ala821Pro) c.1012G>C (p.Ala338Pro) n.2757G>C | |
| 4 | g.5618492C>T | CA356142916 | EVC2 | c.2692G>A (p.Ala898Thr) c.2452G>A (p.Ala818Thr) c.*1085G>A (n.*1085G>A) c.2701G>A (p.Ala901Thr) c.2461G>A (p.Ala821Thr) c.1012G>A (p.Ala338Thr) n.2757G>A | |
| 4 | g.5618493A>C | CA438203776 | EVC2 | c.2691T>G (p.Ala897=) c.2451T>G (p.Ala817=) c.*1084T>G (n.*1084T>G) c.2700T>G (p.Ala900=) c.2460T>G (p.Ala820=) c.1011T>G (p.Ala337=) n.2756T>G | |
| 4 | g.5618493A>G | CA438203777 | EVC2 | c.2691T>C (p.Ala897=) c.2451T>C (p.Ala817=) c.*1084T>C (n.*1084T>C) c.2700T>C (p.Ala900=) c.2460T>C (p.Ala820=) c.1011T>C (p.Ala337=) n.2756T>C | |
| 4 | g.5618493A>T | CA438203778 | EVC2 | c.2691T>A (p.Ala897=) c.2451T>A (p.Ala817=) c.*1084T>A (n.*1084T>A) c.2700T>A (p.Ala900=) c.2460T>A (p.Ala820=) c.1011T>A (p.Ala337=) n.2756T>A | |
| 4 | g.5618494G>A | CA356142918 | EVC2 | c.2690C>T (p.Ala897Val) c.2450C>T (p.Ala817Val) c.*1083C>T (n.*1083C>T) c.2699C>T (p.Ala900Val) c.2459C>T (p.Ala820Val) c.1010C>T (p.Ala337Val) n.2755C>T | |
| 4 | g.5618494G>C | CA356142921 | EVC2 | c.2690C>G (p.Ala897Gly) c.2450C>G (p.Ala817Gly) c.*1083C>G (n.*1083C>G) c.2699C>G (p.Ala900Gly) c.2459C>G (p.Ala820Gly) c.1010C>G (p.Ala337Gly) n.2755C>G | |
| 4 | g.5618494G>T | CA356142923 | EVC2 | c.2690C>A (p.Ala897Asp) c.2450C>A (p.Ala817Asp) c.*1083C>A (n.*1083C>A) c.2699C>A (p.Ala900Asp) c.2459C>A (p.Ala820Asp) c.1010C>A (p.Ala337Asp) n.2755C>A | COSMIC |
| 4 | g.5618495C>A | CA356142925 | EVC2 | c.2689G>T (p.Ala897Ser) c.2449G>T (p.Ala817Ser) c.*1082G>T (n.*1082G>T) c.2698G>T (p.Ala900Ser) c.2458G>T (p.Ala820Ser) c.1009G>T (p.Ala337Ser) n.2754G>T | |
| 4 | g.5618495C>G | CA356142926 | EVC2 | c.2689G>C (p.Ala897Pro) c.2449G>C (p.Ala817Pro) c.*1082G>C (n.*1082G>C) c.2698G>C (p.Ala900Pro) c.2458G>C (p.Ala820Pro) c.1009G>C (p.Ala337Pro) n.2754G>C | |
| 4 | g.5618495C>T | CA356142929 | EVC2 | c.2689G>A (p.Ala897Thr) c.2449G>A (p.Ala817Thr) c.*1082G>A (n.*1082G>A) c.2698G>A (p.Ala900Thr) c.2458G>A (p.Ala820Thr) c.1009G>A (p.Ala337Thr) n.2754G>A | |
| 4 | g.5618496C>A | CA438203779 | EVC2 | c.2688G>T (p.Val896=) c.2448G>T (p.Val816=) c.*1081G>T (n.*1081G>T) c.2697G>T (p.Val899=) c.2457G>T (p.Val819=) c.1008G>T (p.Val336=) n.2753G>T | |
| 4 | g.5618496C>G | CA438203781 | EVC2 | c.2688G>C (p.Val896=) c.2448G>C (p.Val816=) c.*1081G>C (n.*1081G>C) c.2697G>C (p.Val899=) c.2457G>C (p.Val819=) c.1008G>C (p.Val336=) n.2753G>C | gnomAD v4 |
| 4 | g.5618496C>T | CA438203780 | EVC2 | c.2688G>A (p.Val896=) c.2448G>A (p.Val816=) c.*1081G>A (n.*1081G>A) c.2697G>A (p.Val899=) c.2457G>A (p.Val819=) c.1008G>A (p.Val336=) n.2753G>A | |
| 4 | g.5618497A>C | CA356142933 | EVC2 | c.2687T>G (p.Val896Gly) c.2447T>G (p.Val816Gly) c.*1080T>G (n.*1080T>G) c.2696T>G (p.Val899Gly) c.2456T>G (p.Val819Gly) c.1007T>G (p.Val336Gly) n.2752T>G | |
| 4 | g.5618497A>G | CA356142938 | EVC2 | c.2687T>C (p.Val896Ala) c.2447T>C (p.Val816Ala) c.*1080T>C (n.*1080T>C) c.2696T>C (p.Val899Ala) c.2456T>C (p.Val819Ala) c.1007T>C (p.Val336Ala) n.2752T>C | |
| 4 | g.5618497A>T | CA356142936 | EVC2 | c.2687T>A (p.Val896Glu) c.2447T>A (p.Val816Glu) c.*1080T>A (n.*1080T>A) c.2696T>A (p.Val899Glu) c.2456T>A (p.Val819Glu) c.1007T>A (p.Val336Glu) n.2752T>A | |
| 4 | g.5618498C>A | CA356142942 | EVC2 | c.2686G>T (p.Val896Leu) c.2446G>T (p.Val816Leu) c.*1079G>T (n.*1079G>T) c.2695G>T (p.Val899Leu) c.2455G>T (p.Val819Leu) c.1006G>T (p.Val336Leu) n.2751G>T | |
| 4 | g.5618498C= | CA1435421480 | EVC2 | c.2686G= (p.Val896=) c.2446G= (p.Val816=) c.*1079G= (n.*1079G=) c.2695G= (p.Val899=) c.2455G= (p.Val819=) c.1006G= (p.Val336=) n.2751G= | |
| 4 | g.5618498C>G | CA356142946 | EVC2 | c.2686G>C (p.Val896Leu) c.2446G>C (p.Val816Leu) c.*1079G>C (n.*1079G>C) c.2695G>C (p.Val899Leu) c.2455G>C (p.Val819Leu) c.1006G>C (p.Val336Leu) n.2751G>C | |
| 4 | g.5618498C>T | CA2834628 | EVC2 | c.2686G>A (p.Val896Met) c.2446G>A (p.Val816Met) c.*1079G>A (n.*1079G>A) c.2695G>A (p.Val899Met) c.2455G>A (p.Val819Met) c.1006G>A (p.Val336Met) n.2751G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5618499G>A | CA2834629 | EVC2 | c.2685C>T (p.Ala895=) c.2445C>T (p.Ala815=) c.*1078C>T (n.*1078C>T) c.2694C>T (p.Ala898=) c.2454C>T (p.Ala818=) c.1005C>T (p.Ala335=) n.2750C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618499G>C | CA438203782 | EVC2 | c.2685C>G (p.Ala895=) c.2445C>G (p.Ala815=) c.*1078C>G (n.*1078C>G) c.2694C>G (p.Ala898=) c.2454C>G (p.Ala818=) c.1005C>G (p.Ala335=) n.2750C>G | gnomAD v4 |
| 4 | g.5618499G= | CA1435421481 | EVC2 | c.2685C= (p.Ala895=) c.2445C= (p.Ala815=) c.*1078C= (n.*1078C=) c.2694C= (p.Ala898=) c.2454C= (p.Ala818=) c.1005C= (p.Ala335=) n.2750C= | |
| 4 | g.5618499G>T | CA438203783 | EVC2 | c.2685C>A (p.Ala895=) c.2445C>A (p.Ala815=) c.*1078C>A (n.*1078C>A) c.2694C>A (p.Ala898=) c.2454C>A (p.Ala818=) c.1005C>A (p.Ala335=) n.2750C>A | |
| 4 | g.5618500G>A | CA356142952 | EVC2 | c.2684C>T (p.Ala895Val) c.2444C>T (p.Ala815Val) c.*1077C>T (n.*1077C>T) c.2693C>T (p.Ala898Val) c.2453C>T (p.Ala818Val) c.1004C>T (p.Ala335Val) n.2749C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618500G>C | CA356142951 | EVC2 | c.2684C>G (p.Ala895Gly) c.2444C>G (p.Ala815Gly) c.*1077C>G (n.*1077C>G) c.2693C>G (p.Ala898Gly) c.2453C>G (p.Ala818Gly) c.1004C>G (p.Ala335Gly) n.2749C>G | |
| 4 | g.5618500G= | CA1435421482 | EVC2 | c.2684C= (p.Ala895=) c.2444C= (p.Ala815=) c.*1077C= (n.*1077C=) c.2693C= (p.Ala898=) c.2453C= (p.Ala818=) c.1004C= (p.Ala335=) n.2749C= | |
| 4 | g.5618500G>T | CA356142954 | EVC2 | c.2684C>A (p.Ala895Asp) c.2444C>A (p.Ala815Asp) c.*1077C>A (n.*1077C>A) c.2693C>A (p.Ala898Asp) c.2453C>A (p.Ala818Asp) c.1004C>A (p.Ala335Asp) n.2749C>A | |
| 4 | g.5618501C>A | CA91696840 | EVC2 | c.2683G>T (p.Ala895Ser) c.2443G>T (p.Ala815Ser) c.*1076G>T (n.*1076G>T) c.2692G>T (p.Ala898Ser) c.2452G>T (p.Ala818Ser) c.1003G>T (p.Ala335Ser) n.2748G>T | dbSNP |
| 4 | g.5618501C= | CA1435421483 | EVC2 | c.2683G= (p.Ala895=) c.2443G= (p.Ala815=) c.*1076G= (n.*1076G=) c.2692G= (p.Ala898=) c.2452G= (p.Ala818=) c.1003G= (p.Ala335=) n.2748G= | |
| 4 | g.5618501C>G | CA356142958 | EVC2 | c.2683G>C (p.Ala895Pro) c.2443G>C (p.Ala815Pro) c.*1076G>C (n.*1076G>C) c.2692G>C (p.Ala898Pro) c.2452G>C (p.Ala818Pro) c.1003G>C (p.Ala335Pro) n.2748G>C | |
| 4 | g.5618501C>T | CA356142961 | EVC2 | c.2683G>A (p.Ala895Thr) c.2443G>A (p.Ala815Thr) c.*1076G>A (n.*1076G>A) c.2692G>A (p.Ala898Thr) c.2452G>A (p.Ala818Thr) c.1003G>A (p.Ala335Thr) n.2748G>A | |
| 4 | g.5618502C>A | CA356142963 | EVC2 | c.2682G>T (p.Gln894His) c.2442G>T (p.Gln814His) c.*1075G>T (n.*1075G>T) c.2691G>T (p.Gln897His) c.2451G>T (p.Gln817His) c.1002G>T (p.Gln334His) n.2747G>T | |
| 4 | g.5618502C= | CA1435421484 | EVC2 | c.2682G= (p.Gln894=) c.2442G= (p.Gln814=) c.*1075G= (n.*1075G=) c.2691G= (p.Gln897=) c.2451G= (p.Gln817=) c.1002G= (p.Gln334=) n.2747G= | |
| 4 | g.5618502C>G | CA2834630 | EVC2 | c.2682G>C (p.Gln894His) c.2442G>C (p.Gln814His) c.*1075G>C (n.*1075G>C) c.2691G>C (p.Gln897His) c.2451G>C (p.Gln817His) c.1002G>C (p.Gln334His) n.2747G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618502C>T | CA438203784 | EVC2 | c.2682G>A (p.Gln894=) c.2442G>A (p.Gln814=) c.*1075G>A (n.*1075G>A) c.2691G>A (p.Gln897=) c.2451G>A (p.Gln817=) c.1002G>A (p.Gln334=) n.2747G>A | ClinVar dbSNP |
| 4 | g.5618503T>A | CA91696860 | EVC2 | c.2681A>T (p.Gln894Leu) c.2441A>T (p.Gln814Leu) c.*1074A>T (n.*1074A>T) c.2690A>T (p.Gln897Leu) c.2450A>T (p.Gln817Leu) c.1001A>T (p.Gln334Leu) n.2746A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618503T>C | CA356142970 | EVC2 | c.2681A>G (p.Gln894Arg) c.2441A>G (p.Gln814Arg) c.*1074A>G (n.*1074A>G) c.2690A>G (p.Gln897Arg) c.2450A>G (p.Gln817Arg) c.1001A>G (p.Gln334Arg) n.2746A>G | |
| 4 | g.5618503T>G | CA356142972 | EVC2 | c.2681A>C (p.Gln894Pro) c.2441A>C (p.Gln814Pro) c.*1074A>C (n.*1074A>C) c.2690A>C (p.Gln897Pro) c.2450A>C (p.Gln817Pro) c.1001A>C (p.Gln334Pro) n.2746A>C | |
| 4 | g.5618503T= | CA1435421488 | EVC2 | c.2681A= (p.Gln894=) c.2441A= (p.Gln814=) c.*1074A= (n.*1074A=) c.2690A= (p.Gln897=) c.2450A= (p.Gln817=) c.1001A= (p.Gln334=) n.2746A= | |
| 4 | g.5618504G>A | CA356142976 | EVC2 | c.2680C>T (p.Gln894Ter) c.2440C>T (p.Gln814Ter) c.*1073C>T (n.*1073C>T) c.2689C>T (p.Gln897Ter) c.2449C>T (p.Gln817Ter) c.1000C>T (p.Gln334Ter) n.2745C>T | ClinVar |
| 4 | g.5618504G>C | CA356142978 | EVC2 | c.2680C>G (p.Gln894Glu) c.2440C>G (p.Gln814Glu) c.*1073C>G (n.*1073C>G) c.2689C>G (p.Gln897Glu) c.2449C>G (p.Gln817Glu) c.1000C>G (p.Gln334Glu) n.2745C>G | |
| 4 | g.5618504G>T | CA356142980 | EVC2 | c.2680C>A (p.Gln894Lys) c.2440C>A (p.Gln814Lys) c.*1073C>A (n.*1073C>A) c.2689C>A (p.Gln897Lys) c.2449C>A (p.Gln817Lys) c.1000C>A (p.Gln334Lys) n.2745C>A | |
| 4 | g.5618505G>A | CA438203785 | EVC2 | c.2679C>T (p.Asp893=) c.2439C>T (p.Asp813=) c.*1072C>T (n.*1072C>T) c.2688C>T (p.Asp896=) c.2448C>T (p.Asp816=) c.999C>T (p.Asp333=) n.2744C>T | ClinVar |
| 4 | g.5618505G>C | CA356142983 | EVC2 | c.2679C>G (p.Asp893Glu) c.2439C>G (p.Asp813Glu) c.*1072C>G (n.*1072C>G) c.2688C>G (p.Asp896Glu) c.2448C>G (p.Asp816Glu) c.999C>G (p.Asp333Glu) n.2744C>G | |
| 4 | g.5618505G>T | CA356142986 | EVC2 | c.2679C>A (p.Asp893Glu) c.2439C>A (p.Asp813Glu) c.*1072C>A (n.*1072C>A) c.2688C>A (p.Asp896Glu) c.2448C>A (p.Asp816Glu) c.999C>A (p.Asp333Glu) n.2744C>A | gnomAD v4 |
| 4 | g.5618506T>A | CA356142991 | EVC2 | c.2678A>T (p.Asp893Val) c.2438A>T (p.Asp813Val) c.*1071A>T (n.*1071A>T) c.2687A>T (p.Asp896Val) c.2447A>T (p.Asp816Val) c.998A>T (p.Asp333Val) n.2743A>T | |
| 4 | g.5618506T>C | CA356142990 | EVC2 | c.2678A>G (p.Asp893Gly) c.2438A>G (p.Asp813Gly) c.*1071A>G (n.*1071A>G) c.2687A>G (p.Asp896Gly) c.2447A>G (p.Asp816Gly) c.998A>G (p.Asp333Gly) n.2743A>G | |
| 4 | g.5618506T>G | CA356142988 | EVC2 | c.2678A>C (p.Asp893Ala) c.2438A>C (p.Asp813Ala) c.*1071A>C (n.*1071A>C) c.2687A>C (p.Asp896Ala) c.2447A>C (p.Asp816Ala) c.998A>C (p.Asp333Ala) n.2743A>C | |
| 4 | g.5618507C>A | CA356142994 | EVC2 | c.2677G>T (p.Asp893Tyr) c.2437G>T (p.Asp813Tyr) c.*1070G>T (n.*1070G>T) c.2686G>T (p.Asp896Tyr) c.2446G>T (p.Asp816Tyr) c.997G>T (p.Asp333Tyr) n.2742G>T | |
| 4 | g.5618507C= | CA1435421494 | EVC2 | c.2677G= (p.Asp893=) c.2437G= (p.Asp813=) c.*1070G= (n.*1070G=) c.2686G= (p.Asp896=) c.2446G= (p.Asp816=) c.997G= (p.Asp333=) n.2742G= | |
| 4 | g.5618507C>G | CA356142997 | EVC2 | c.2677G>C (p.Asp893His) c.2437G>C (p.Asp813His) c.*1070G>C (n.*1070G>C) c.2686G>C (p.Asp896His) c.2446G>C (p.Asp816His) c.997G>C (p.Asp333His) n.2742G>C | |
| 4 | g.5618507C>T | CA356142999 | EVC2 | c.2677G>A (p.Asp893Asn) c.2437G>A (p.Asp813Asn) c.*1070G>A (n.*1070G>A) c.2686G>A (p.Asp896Asn) c.2446G>A (p.Asp816Asn) c.997G>A (p.Asp333Asn) n.2742G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618508C>A | CA438203786 | EVC2 | c.2676G>T (p.Leu892=) c.2436G>T (p.Leu812=) c.*1069G>T (n.*1069G>T) c.2685G>T (p.Leu895=) c.2445G>T (p.Leu815=) c.996G>T (p.Leu332=) n.2741G>T | ClinVar |
| 4 | g.5618508C>G | CA438203787 | EVC2 | c.2676G>C (p.Leu892=) c.2436G>C (p.Leu812=) c.*1069G>C (n.*1069G>C) c.2685G>C (p.Leu895=) c.2445G>C (p.Leu815=) c.996G>C (p.Leu332=) n.2741G>C | |
| 4 | g.5618508C>T | CA438203788 | EVC2 | c.2676G>A (p.Leu892=) c.2436G>A (p.Leu812=) c.*1069G>A (n.*1069G>A) c.2685G>A (p.Leu895=) c.2445G>A (p.Leu815=) c.996G>A (p.Leu332=) n.2741G>A | ClinVar dbSNP |
| 4 | g.5618509A= | CA1435421501 | EVC2 | c.2675T= (p.Leu892=) c.2435T= (p.Leu812=) c.*1068T= (n.*1068T=) c.2684T= (p.Leu895=) c.2444T= (p.Leu815=) c.995T= (p.Leu332=) n.2740T= | |
| 4 | g.5618509A>C | CA356143009 | EVC2 | c.2675T>G (p.Leu892Arg) c.2435T>G (p.Leu812Arg) c.*1068T>G (n.*1068T>G) c.2684T>G (p.Leu895Arg) c.2444T>G (p.Leu815Arg) c.995T>G (p.Leu332Arg) n.2740T>G | |
| 4 | g.5618509A>G | CA91696868 | EVC2 | c.2675T>C (p.Leu892Pro) c.2435T>C (p.Leu812Pro) c.*1068T>C (n.*1068T>C) c.2684T>C (p.Leu895Pro) c.2444T>C (p.Leu815Pro) c.995T>C (p.Leu332Pro) n.2740T>C | dbSNP gnomAD v4 |
| 4 | g.5618509A>T | CA356143013 | EVC2 | c.2675T>A (p.Leu892Gln) c.2435T>A (p.Leu812Gln) c.*1068T>A (n.*1068T>A) c.2684T>A (p.Leu895Gln) c.2444T>A (p.Leu815Gln) c.995T>A (p.Leu332Gln) n.2740T>A | |
| 4 | g.5618510G>A | CA438203789 | EVC2 | c.2674C>T (p.Leu892=) c.2434C>T (p.Leu812=) c.*1067C>T (n.*1067C>T) c.2683C>T (p.Leu895=) c.2443C>T (p.Leu815=) c.994C>T (p.Leu332=) n.2739C>T | |
| 4 | g.5618510G>C | CA356143016 | EVC2 | c.2674C>G (p.Leu892Val) c.2434C>G (p.Leu812Val) c.*1067C>G (n.*1067C>G) c.2683C>G (p.Leu895Val) c.2443C>G (p.Leu815Val) c.994C>G (p.Leu332Val) n.2739C>G | |
| 4 | g.5618510G>T | CA356143019 | EVC2 | c.2674C>A (p.Leu892Met) c.2434C>A (p.Leu812Met) c.*1067C>A (n.*1067C>A) c.2683C>A (p.Leu895Met) c.2443C>A (p.Leu815Met) c.994C>A (p.Leu332Met) n.2739C>A | |
| 4 | g.5618511C>A | CA356143022 | EVC2 | c.2673G>T (p.Lys891Asn) c.2433G>T (p.Lys811Asn) c.*1066G>T (n.*1066G>T) c.2682G>T (p.Lys894Asn) c.2442G>T (p.Lys814Asn) c.993G>T (p.Lys331Asn) n.2738G>T | gnomAD v4 |
| 4 | g.5618511C>G | CA356143026 | EVC2 | c.2673G>C (p.Lys891Asn) c.2433G>C (p.Lys811Asn) c.*1066G>C (n.*1066G>C) c.2682G>C (p.Lys894Asn) c.2442G>C (p.Lys814Asn) c.993G>C (p.Lys331Asn) n.2738G>C | gnomAD v4 |
| 4 | g.5618511C>T | CA438203790 | EVC2 | c.2673G>A (p.Lys891=) c.2433G>A (p.Lys811=) c.*1066G>A (n.*1066G>A) c.2682G>A (p.Lys894=) c.2442G>A (p.Lys814=) c.993G>A (p.Lys331=) n.2738G>A | gnomAD v4 |
| 4 | g.5618512T>A | CA356143030 | EVC2 | c.2672A>T (p.Lys891Met) c.2432A>T (p.Lys811Met) c.*1065A>T (n.*1065A>T) c.2681A>T (p.Lys894Met) c.2441A>T (p.Lys814Met) c.992A>T (p.Lys331Met) n.2737A>T | |
| 4 | g.5618512T>C | CA356143033 | EVC2 | c.2672A>G (p.Lys891Arg) c.2432A>G (p.Lys811Arg) c.*1065A>G (n.*1065A>G) c.2681A>G (p.Lys894Arg) c.2441A>G (p.Lys814Arg) c.992A>G (p.Lys331Arg) n.2737A>G | |
| 4 | g.5618512T>G | CA356143034 | EVC2 | c.2672A>C (p.Lys891Thr) c.2432A>C (p.Lys811Thr) c.*1065A>C (n.*1065A>C) c.2681A>C (p.Lys894Thr) c.2441A>C (p.Lys814Thr) c.992A>C (p.Lys331Thr) n.2737A>C | |
| 4 | g.5618513T>A | CA356143039 | EVC2 | c.2671A>T (p.Lys891Ter) c.2431A>T (p.Lys811Ter) c.*1064A>T (n.*1064A>T) c.2680A>T (p.Lys894Ter) c.2440A>T (p.Lys814Ter) c.991A>T (p.Lys331Ter) n.2736A>T | |
| 4 | g.5618513T>C | CA356143042 | EVC2 | c.2671A>G (p.Lys891Glu) c.2431A>G (p.Lys811Glu) c.*1064A>G (n.*1064A>G) c.2680A>G (p.Lys894Glu) c.2440A>G (p.Lys814Glu) c.991A>G (p.Lys331Glu) n.2736A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618513T>G | CA356143037 | EVC2 | c.2671A>C (p.Lys891Gln) c.2431A>C (p.Lys811Gln) c.*1064A>C (n.*1064A>C) c.2680A>C (p.Lys894Gln) c.2440A>C (p.Lys814Gln) c.991A>C (p.Lys331Gln) n.2736A>C | |
| 4 | g.5618513T= | CA1435421505 | EVC2 | c.2671A= (p.Lys891=) c.2431A= (p.Lys811=) c.*1064A= (n.*1064A=) c.2680A= (p.Lys894=) c.2440A= (p.Lys814=) c.991A= (p.Lys331=) n.2736A= | |
| 4 | g.5618514C>A | CA438203791 | EVC2 | c.2670G>T (p.Val890=) c.2430G>T (p.Val810=) c.*1063G>T (n.*1063G>T) c.2679G>T (p.Val893=) c.2439G>T (p.Val813=) c.990G>T (p.Val330=) n.2735G>T | |
| 4 | g.5618514C>G | CA438203792 | EVC2 | c.2670G>C (p.Val890=) c.2430G>C (p.Val810=) c.*1063G>C (n.*1063G>C) c.2679G>C (p.Val893=) c.2439G>C (p.Val813=) c.990G>C (p.Val330=) n.2735G>C | |
| 4 | g.5618514C>T | CA438203793 | EVC2 | c.2670G>A (p.Val890=) c.2430G>A (p.Val810=) c.*1063G>A (n.*1063G>A) c.2679G>A (p.Val893=) c.2439G>A (p.Val813=) c.990G>A (p.Val330=) n.2735G>A | |
| 4 | g.5618515A= | CA1435421511 | EVC2 | c.2669T= (p.Val890=) c.2429T= (p.Val810=) c.*1062T= (n.*1062T=) c.2678T= (p.Val893=) c.2438T= (p.Val813=) c.989T= (p.Val330=) n.2734T= | |
| 4 | g.5618515A>C | CA2834632 | EVC2 | c.2669T>G (p.Val890Gly) c.2429T>G (p.Val810Gly) c.*1062T>G (n.*1062T>G) c.2678T>G (p.Val893Gly) c.2438T>G (p.Val813Gly) c.989T>G (p.Val330Gly) n.2734T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618515A>G | CA356143046 | EVC2 | c.2669T>C (p.Val890Ala) c.2429T>C (p.Val810Ala) c.*1062T>C (n.*1062T>C) c.2678T>C (p.Val893Ala) c.2438T>C (p.Val813Ala) c.989T>C (p.Val330Ala) n.2734T>C | gnomAD v4 |
| 4 | g.5618515A>T | CA2834631 | EVC2 | c.2669T>A (p.Val890Glu) c.2429T>A (p.Val810Glu) c.*1062T>A (n.*1062T>A) c.2678T>A (p.Val893Glu) c.2438T>A (p.Val813Glu) c.989T>A (p.Val330Glu) n.2734T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618516C>A | CA2834633 | EVC2 | c.2668G>T (p.Val890Leu) c.2428G>T (p.Val810Leu) c.*1061G>T (n.*1061G>T) c.2677G>T (p.Val893Leu) c.2437G>T (p.Val813Leu) c.988G>T (p.Val330Leu) n.2733G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618516C= | CA1435421522 | EVC2 | c.2668G= (p.Val890=) c.2428G= (p.Val810=) c.*1061G= (n.*1061G=) c.2677G= (p.Val893=) c.2437G= (p.Val813=) c.988G= (p.Val330=) n.2733G= | |
| 4 | g.5618516C>G | CA356143053 | EVC2 | c.2668G>C (p.Val890Leu) c.2428G>C (p.Val810Leu) c.*1061G>C (n.*1061G>C) c.2677G>C (p.Val893Leu) c.2437G>C (p.Val813Leu) c.988G>C (p.Val330Leu) n.2733G>C | dbSNP |
| 4 | g.5618516C>T | CA2834634 | EVC2 | c.2668G>A (p.Val890Met) c.2428G>A (p.Val810Met) c.*1061G>A (n.*1061G>A) c.2677G>A (p.Val893Met) c.2437G>A (p.Val813Met) c.988G>A (p.Val330Met) n.2733G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618517G>A | CA2834635 | EVC2 | c.2667C>T (p.Phe889=) c.2427C>T (p.Phe809=) c.*1060C>T (n.*1060C>T) c.2676C>T (p.Phe892=) c.2436C>T (p.Phe812=) c.987C>T (p.Phe329=) n.2732C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5618517G>C | CA356143059 | EVC2 | c.2667C>G (p.Phe889Leu) c.2427C>G (p.Phe809Leu) c.*1060C>G (n.*1060C>G) c.2676C>G (p.Phe892Leu) c.2436C>G (p.Phe812Leu) c.987C>G (p.Phe329Leu) n.2732C>G | |
| 4 | g.5618517G= | CA1435421528 | EVC2 | c.2667C= (p.Phe889=) c.2427C= (p.Phe809=) c.*1060C= (n.*1060C=) c.2676C= (p.Phe892=) c.2436C= (p.Phe812=) c.987C= (p.Phe329=) n.2732C= | |
| 4 | g.5618517G>T | CA356143061 | EVC2 | c.2667C>A (p.Phe889Leu) c.2427C>A (p.Phe809Leu) c.*1060C>A (n.*1060C>A) c.2676C>A (p.Phe892Leu) c.2436C>A (p.Phe812Leu) c.987C>A (p.Phe329Leu) n.2732C>A | gnomAD v4 |
| 4 | g.5618518A>C | CA356143063 | EVC2 | c.2666T>G (p.Phe889Cys) c.2426T>G (p.Phe809Cys) c.*1059T>G (n.*1059T>G) c.2675T>G (p.Phe892Cys) c.2435T>G (p.Phe812Cys) c.986T>G (p.Phe329Cys) n.2731T>G | |
| 4 | g.5618518A>G | CA356143064 | EVC2 | c.2666T>C (p.Phe889Ser) c.2426T>C (p.Phe809Ser) c.*1059T>C (n.*1059T>C) c.2675T>C (p.Phe892Ser) c.2435T>C (p.Phe812Ser) c.986T>C (p.Phe329Ser) n.2731T>C | |
| 4 | g.5618518A>T | CA356143067 | EVC2 | c.2666T>A (p.Phe889Tyr) c.2426T>A (p.Phe809Tyr) c.*1059T>A (n.*1059T>A) c.2675T>A (p.Phe892Tyr) c.2435T>A (p.Phe812Tyr) c.986T>A (p.Phe329Tyr) n.2731T>A | |
| 4 | g.5618519A>C | CA356143075 | EVC2 | c.2665T>G (p.Phe889Val) c.2425T>G (p.Phe809Val) c.*1058T>G (n.*1058T>G) c.2674T>G (p.Phe892Val) c.2434T>G (p.Phe812Val) c.985T>G (p.Phe329Val) n.2730T>G | |
| 4 | g.5618519A>G | CA356143072 | EVC2 | c.2665T>C (p.Phe889Leu) c.2425T>C (p.Phe809Leu) c.*1058T>C (n.*1058T>C) c.2674T>C (p.Phe892Leu) c.2434T>C (p.Phe812Leu) c.985T>C (p.Phe329Leu) n.2730T>C | |
| 4 | g.5618519A>T | CA356143074 | EVC2 | c.2665T>A (p.Phe889Ile) c.2425T>A (p.Phe809Ile) c.*1058T>A (n.*1058T>A) c.2674T>A (p.Phe892Ile) c.2434T>A (p.Phe812Ile) c.985T>A (p.Phe329Ile) n.2730T>A | |
| 4 | g.5618520C>A | CA356143078 | EVC2 | c.2664G>T (p.Glu888Asp) c.2424G>T (p.Glu808Asp) c.*1057G>T (n.*1057G>T) c.2673G>T (p.Glu891Asp) c.2433G>T (p.Glu811Asp) c.984G>T (p.Glu328Asp) n.2729G>T | |
| 4 | g.5618520C>G | CA356143079 | EVC2 | c.2664G>C (p.Glu888Asp) c.2424G>C (p.Glu808Asp) c.*1057G>C (n.*1057G>C) c.2673G>C (p.Glu891Asp) c.2433G>C (p.Glu811Asp) c.984G>C (p.Glu328Asp) n.2729G>C | |
| 4 | g.5618520C>T | CA438203794 | EVC2 | c.2664G>A (p.Glu888=) c.2424G>A (p.Glu808=) c.*1057G>A (n.*1057G>A) c.2673G>A (p.Glu891=) c.2433G>A (p.Glu811=) c.984G>A (p.Glu328=) n.2729G>A | |
| 4 | g.5618521T>A | CA356143082 | EVC2 | c.2663A>T (p.Glu888Val) c.2423A>T (p.Glu808Val) c.*1056A>T (n.*1056A>T) c.2672A>T (p.Glu891Val) c.2432A>T (p.Glu811Val) c.983A>T (p.Glu328Val) n.2728A>T | |
| 4 | g.5618521T>C | CA356143084 | EVC2 | c.2663A>G (p.Glu888Gly) c.2423A>G (p.Glu808Gly) c.*1056A>G (n.*1056A>G) c.2672A>G (p.Glu891Gly) c.2432A>G (p.Glu811Gly) c.983A>G (p.Glu328Gly) n.2728A>G | |
| 4 | g.5618521T>G | CA356143085 | EVC2 | c.2663A>C (p.Glu888Ala) c.2423A>C (p.Glu808Ala) c.*1056A>C (n.*1056A>C) c.2672A>C (p.Glu891Ala) c.2432A>C (p.Glu811Ala) c.983A>C (p.Glu328Ala) n.2728A>C | |
| 4 | g.5618522C>A | CA356143089 | EVC2 | c.2662G>T (p.Glu888Ter) c.2422G>T (p.Glu808Ter) c.*1055G>T (n.*1055G>T) c.2671G>T (p.Glu891Ter) c.2431G>T (p.Glu811Ter) c.982G>T (p.Glu328Ter) n.2727G>T | |
| 4 | g.5618522C>G | CA356143091 | EVC2 | c.2662G>C (p.Glu888Gln) c.2422G>C (p.Glu808Gln) c.*1055G>C (n.*1055G>C) c.2671G>C (p.Glu891Gln) c.2431G>C (p.Glu811Gln) c.982G>C (p.Glu328Gln) n.2727G>C | gnomAD v4 |
| 4 | g.5618522C>T | CA356143094 | EVC2 | c.2662G>A (p.Glu888Lys) c.2422G>A (p.Glu808Lys) c.*1055G>A (n.*1055G>A) c.2671G>A (p.Glu891Lys) c.2431G>A (p.Glu811Lys) c.982G>A (p.Glu328Lys) n.2727G>A | gnomAD v4 COSMIC COSMIC |
| 4 | g.5618523T>A | CA438203795 | EVC2 | c.2661A>T (p.Ala887=) c.2421A>T (p.Ala807=) c.*1054A>T (n.*1054A>T) c.2670A>T (p.Ala890=) c.2430A>T (p.Ala810=) c.981A>T (p.Ala327=) n.2726A>T | |
| 4 | g.5618523T>C | CA438203796 | EVC2 | c.2661A>G (p.Ala887=) c.2421A>G (p.Ala807=) c.*1054A>G (n.*1054A>G) c.2670A>G (p.Ala890=) c.2430A>G (p.Ala810=) c.981A>G (p.Ala327=) n.2726A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618523T>G | CA438203797 | EVC2 | c.2661A>C (p.Ala887=) c.2421A>C (p.Ala807=) c.*1054A>C (n.*1054A>C) c.2670A>C (p.Ala890=) c.2430A>C (p.Ala810=) c.981A>C (p.Ala327=) n.2726A>C | ClinVar |
| 4 | g.5618523T= | CA1435421535 | EVC2 | c.2661A= (p.Ala887=) c.2421A= (p.Ala807=) c.*1054A= (n.*1054A=) c.2670A= (p.Ala890=) c.2430A= (p.Ala810=) c.981A= (p.Ala327=) n.2726A= | |
| 4 | g.5618523dup | CA2760265296 | EVC2 | c.2661dup (p.Glu888ArgfsTer13) c.2421dup (p.Glu808ArgfsTer13) c.*1054dup (n.*1054dup) c.2670dup (p.Glu891ArgfsTer13) c.2430dup (p.Glu811ArgfsTer13) c.981dup (p.Glu328ArgfsTer13) n.2726dup | |
| 4 | g.5618524G>A | CA356143097 | EVC2 | c.2660C>T (p.Ala887Val) c.2420C>T (p.Ala807Val) c.*1053C>T (n.*1053C>T) c.2669C>T (p.Ala890Val) c.2429C>T (p.Ala810Val) c.980C>T (p.Ala327Val) n.2725C>T | |
| 4 | g.5618524G>C | CA356143099 | EVC2 | c.2660C>G (p.Ala887Gly) c.2420C>G (p.Ala807Gly) c.*1053C>G (n.*1053C>G) c.2669C>G (p.Ala890Gly) c.2429C>G (p.Ala810Gly) c.980C>G (p.Ala327Gly) n.2725C>G | |
| 4 | g.5618524G>T | CA356143101 | EVC2 | c.2660C>A (p.Ala887Glu) c.2420C>A (p.Ala807Glu) c.*1053C>A (n.*1053C>A) c.2669C>A (p.Ala890Glu) c.2429C>A (p.Ala810Glu) c.980C>A (p.Ala327Glu) n.2725C>A | |
| 4 | g.5618525C>A | CA356143109 | EVC2 | c.2659G>T (p.Ala887Ser) c.2419G>T (p.Ala807Ser) c.*1052G>T (n.*1052G>T) c.2668G>T (p.Ala890Ser) c.2428G>T (p.Ala810Ser) c.979G>T (p.Ala327Ser) n.2724G>T | COSMIC COSMIC |
| 4 | g.5618525C= | CA1435421537 | EVC2 | c.2659G= (p.Ala887=) c.2419G= (p.Ala807=) c.*1052G= (n.*1052G=) c.2668G= (p.Ala890=) c.2428G= (p.Ala810=) c.979G= (p.Ala327=) n.2724G= | |
| 4 | g.5618525C>G | CA356143106 | EVC2 | c.2659G>C (p.Ala887Pro) c.2419G>C (p.Ala807Pro) c.*1052G>C (n.*1052G>C) c.2668G>C (p.Ala890Pro) c.2428G>C (p.Ala810Pro) c.979G>C (p.Ala327Pro) n.2724G>C | |
| 4 | g.5618525C>T | CA2834636 | EVC2 | c.2659G>A (p.Ala887Thr) c.2419G>A (p.Ala807Thr) c.*1052G>A (n.*1052G>A) c.2668G>A (p.Ala890Thr) c.2428G>A (p.Ala810Thr) c.979G>A (p.Ala327Thr) n.2724G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618527_5618529del | CA2669800458 | EVC2 | c.2657_2659del (p.Glu886del) c.2417_2419del (p.Glu806del) c.*1050_*1052del (n.*1050_*1052del) c.2666_2668del (p.Glu889del) c.2426_2428del (p.Glu809del) c.977_979del (p.Glu326del) n.2722_2724del | gnomAD v4 |
| 4 | g.5618526T>A | CA356143112 | EVC2 | c.2658A>T (p.Glu886Asp) c.2418A>T (p.Glu806Asp) c.*1051A>T (n.*1051A>T) c.2667A>T (p.Glu889Asp) c.2427A>T (p.Glu809Asp) c.978A>T (p.Glu326Asp) n.2723A>T | |
| 4 | g.5618526T>C | CA438203798 | EVC2 | c.2658A>G (p.Glu886=) c.2418A>G (p.Glu806=) c.*1051A>G (n.*1051A>G) c.2667A>G (p.Glu889=) c.2427A>G (p.Glu809=) c.978A>G (p.Glu326=) n.2723A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.5618526T>G | CA356143115 | EVC2 | c.2658A>C (p.Glu886Asp) c.2418A>C (p.Glu806Asp) c.*1051A>C (n.*1051A>C) c.2667A>C (p.Glu889Asp) c.2427A>C (p.Glu809Asp) c.978A>C (p.Glu326Asp) n.2723A>C | |
| 4 | g.5618527T>A | CA356143118 | EVC2 | c.2657A>T (p.Glu886Val) c.2417A>T (p.Glu806Val) c.*1050A>T (n.*1050A>T) c.2666A>T (p.Glu889Val) c.2426A>T (p.Glu809Val) c.977A>T (p.Glu326Val) n.2722A>T | |
| 4 | g.5618527T>C | CA356143121 | EVC2 | c.2657A>G (p.Glu886Gly) c.2417A>G (p.Glu806Gly) c.*1050A>G (n.*1050A>G) c.2666A>G (p.Glu889Gly) c.2426A>G (p.Glu809Gly) c.977A>G (p.Glu326Gly) n.2722A>G | |
| 4 | g.5618527T>G | CA356143124 | EVC2 | c.2657A>C (p.Glu886Ala) c.2417A>C (p.Glu806Ala) c.*1050A>C (n.*1050A>C) c.2666A>C (p.Glu889Ala) c.2426A>C (p.Glu809Ala) c.977A>C (p.Glu326Ala) n.2722A>C | |
| 4 | g.5618528C>A | CA356143127 | EVC2 | c.2656G>T (p.Glu886Ter) c.2416G>T (p.Glu806Ter) c.*1049G>T (n.*1049G>T) c.2665G>T (p.Glu889Ter) c.2425G>T (p.Glu809Ter) c.976G>T (p.Glu326Ter) n.2721G>T | |
| 4 | g.5618528C>G | CA356143129 | EVC2 | c.2656G>C (p.Glu886Gln) c.2416G>C (p.Glu806Gln) c.*1049G>C (n.*1049G>C) c.2665G>C (p.Glu889Gln) c.2425G>C (p.Glu809Gln) c.976G>C (p.Glu326Gln) n.2721G>C | gnomAD v4 |
| 4 | g.5618528C>T | CA356143131 | EVC2 | c.2656G>A (p.Glu886Lys) c.2416G>A (p.Glu806Lys) c.*1049G>A (n.*1049G>A) c.2665G>A (p.Glu889Lys) c.2425G>A (p.Glu809Lys) c.976G>A (p.Glu326Lys) n.2721G>A | gnomAD v4 |
| 4 | g.5618529T>A | CA438203799 | EVC2 | c.2655A>T (p.Arg885=) c.2415A>T (p.Arg805=) c.*1048A>T (n.*1048A>T) c.2664A>T (p.Arg888=) c.2424A>T (p.Arg808=) c.975A>T (p.Arg325=) n.2720A>T | |
| 4 | g.5618529T>C | CA438203800 | EVC2 | c.2655A>G (p.Arg885=) c.2415A>G (p.Arg805=) c.*1048A>G (n.*1048A>G) c.2664A>G (p.Arg888=) c.2424A>G (p.Arg808=) c.975A>G (p.Arg325=) n.2720A>G | gnomAD v4 |
| 4 | g.5618529T>G | CA438203801 | EVC2 | c.2655A>C (p.Arg885=) c.2415A>C (p.Arg805=) c.*1048A>C (n.*1048A>C) c.2664A>C (p.Arg888=) c.2424A>C (p.Arg808=) c.975A>C (p.Arg325=) n.2720A>C | |
| 4 | g.5618530C>A | CA356143133 | EVC2 | c.2654G>T (p.Arg885Leu) c.2414G>T (p.Arg805Leu) c.*1047G>T (n.*1047G>T) c.2663G>T (p.Arg888Leu) c.2423G>T (p.Arg808Leu) c.974G>T (p.Arg325Leu) n.2719G>T | |
| 4 | g.5618530C= | CA1435421538 | EVC2 | c.2654G= (p.Arg885=) c.2414G= (p.Arg805=) c.*1047G= (n.*1047G=) c.2663G= (p.Arg888=) c.2423G= (p.Arg808=) c.974G= (p.Arg325=) n.2719G= | |
| 4 | g.5618530C>G | CA356143136 | EVC2 | c.2654G>C (p.Arg885Pro) c.2414G>C (p.Arg805Pro) c.*1047G>C (n.*1047G>C) c.2663G>C (p.Arg888Pro) c.2423G>C (p.Arg808Pro) c.974G>C (p.Arg325Pro) n.2719G>C | |
| 4 | g.5618530C>T | CA2834637 | EVC2 | c.2654G>A (p.Arg885Gln) c.2414G>A (p.Arg805Gln) c.*1047G>A (n.*1047G>A) c.2663G>A (p.Arg888Gln) c.2423G>A (p.Arg808Gln) c.974G>A (p.Arg325Gln) n.2719G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618531G>A | CA213036 | EVC2 | c.2653C>T (p.Arg885Ter) c.2413C>T (p.Arg805Ter) c.*1046C>T (n.*1046C>T) c.2662C>T (p.Arg888Ter) c.2422C>T (p.Arg808Ter) c.973C>T (p.Arg325Ter) n.2718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5618531G>C | CA356143139 | EVC2 | c.2653C>G (p.Arg885Gly) c.2413C>G (p.Arg805Gly) c.*1046C>G (n.*1046C>G) c.2662C>G (p.Arg888Gly) c.2422C>G (p.Arg808Gly) c.973C>G (p.Arg325Gly) n.2718C>G | |
| 4 | g.5618531G= | CA1435421541 | EVC2 | c.2653C= (p.Arg885=) c.2413C= (p.Arg805=) c.*1046C= (n.*1046C=) c.2662C= (p.Arg888=) c.2422C= (p.Arg808=) c.973C= (p.Arg325=) n.2718C= | |
| 4 | g.5618531G>T | CA438203802 | EVC2 | c.2653C>A (p.Arg885=) c.2413C>A (p.Arg805=) c.*1046C>A (n.*1046C>A) c.2662C>A (p.Arg888=) c.2422C>A (p.Arg808=) c.973C>A (p.Arg325=) n.2718C>A | |
| 4 | g.5618532C>A | CA356143148 | EVC2 | c.2652G>T (p.Trp884Cys) c.2412G>T (p.Trp804Cys) c.*1045G>T (n.*1045G>T) c.2661G>T (p.Trp887Cys) c.2421G>T (p.Trp807Cys) c.972G>T (p.Trp324Cys) n.2717G>T | |
| 4 | g.5618532C= | CA1435421552 | EVC2 | c.2652G= (p.Trp884=) c.2412G= (p.Trp804=) c.*1045G= (n.*1045G=) c.2661G= (p.Trp887=) c.2421G= (p.Trp807=) c.972G= (p.Trp324=) n.2717G= | |
| 4 | g.5618532C>G | CA356143141 | EVC2 | c.2652G>C (p.Trp884Cys) c.2412G>C (p.Trp804Cys) c.*1045G>C (n.*1045G>C) c.2661G>C (p.Trp887Cys) c.2421G>C (p.Trp807Cys) c.972G>C (p.Trp324Cys) n.2717G>C | |
| 4 | g.5618532C>T | CA91696925 | EVC2 | c.2652G>A (p.Trp884Ter) c.2412G>A (p.Trp804Ter) c.*1045G>A (n.*1045G>A) c.2661G>A (p.Trp887Ter) c.2421G>A (p.Trp807Ter) c.972G>A (p.Trp324Ter) n.2717G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.5618533C>A | CA356143149 | EVC2 | c.2651G>T (p.Trp884Leu) c.2411G>T (p.Trp804Leu) c.*1044G>T (n.*1044G>T) c.2660G>T (p.Trp887Leu) c.2420G>T (p.Trp807Leu) c.971G>T (p.Trp324Leu) n.2716G>T | |
| 4 | g.5618533C>G | CA356143150 | EVC2 | c.2651G>C (p.Trp884Ser) c.2411G>C (p.Trp804Ser) c.*1044G>C (n.*1044G>C) c.2660G>C (p.Trp887Ser) c.2420G>C (p.Trp807Ser) c.971G>C (p.Trp324Ser) n.2716G>C | |
| 4 | g.5618533C>T | CA356143151 | EVC2 | c.2651G>A (p.Trp884Ter) c.2411G>A (p.Trp804Ter) c.*1044G>A (n.*1044G>A) c.2660G>A (p.Trp887Ter) c.2420G>A (p.Trp807Ter) c.971G>A (p.Trp324Ter) n.2716G>A | |
| 4 | g.5618534A>C | CA356143152 | EVC2 | c.2650T>G (p.Trp884Gly) c.2410T>G (p.Trp804Gly) c.*1043T>G (n.*1043T>G) c.2659T>G (p.Trp887Gly) c.2419T>G (p.Trp807Gly) c.970T>G (p.Trp324Gly) n.2715T>G | |
| 4 | g.5618534A>G | CA356143153 | EVC2 | c.2650T>C (p.Trp884Arg) c.2410T>C (p.Trp804Arg) c.*1043T>C (n.*1043T>C) c.2659T>C (p.Trp887Arg) c.2419T>C (p.Trp807Arg) c.970T>C (p.Trp324Arg) n.2715T>C | gnomAD v4 |
| 4 | g.5618534A>T | CA356143155 | EVC2 | c.2650T>A (p.Trp884Arg) c.2410T>A (p.Trp804Arg) c.*1043T>A (n.*1043T>A) c.2659T>A (p.Trp887Arg) c.2419T>A (p.Trp807Arg) c.970T>A (p.Trp324Arg) n.2715T>A | gnomAD v4 |
| 4 | g.5618535C>A | CA2834638 | EVC2 | c.2649G>T (p.Ala883=) c.2409G>T (p.Ala803=) c.*1042G>T (n.*1042G>T) c.2658G>T (p.Ala886=) c.2418G>T (p.Ala806=) c.969G>T (p.Ala323=) n.2714G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618535C= | CA1435421558 | EVC2 | c.2649G= (p.Ala883=) c.2409G= (p.Ala803=) c.*1042G= (n.*1042G=) c.2658G= (p.Ala886=) c.2418G= (p.Ala806=) c.969G= (p.Ala323=) n.2714G= | |
| 4 | g.5618535C>G | CA438203803 | EVC2 | c.2649G>C (p.Ala883=) c.2409G>C (p.Ala803=) c.*1042G>C (n.*1042G>C) c.2658G>C (p.Ala886=) c.2418G>C (p.Ala806=) c.969G>C (p.Ala323=) n.2714G>C | |
| 4 | g.5618535C>T | CA2834639 | EVC2 | c.2649G>A (p.Ala883=) c.2409G>A (p.Ala803=) c.*1042G>A (n.*1042G>A) c.2658G>A (p.Ala886=) c.2418G>A (p.Ala806=) c.969G>A (p.Ala323=) n.2714G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5618536G>A | CA2834640 | EVC2 | c.2648C>T (p.Ala883Val) c.2408C>T (p.Ala803Val) c.*1041C>T (n.*1041C>T) c.2657C>T (p.Ala886Val) c.2417C>T (p.Ala806Val) c.968C>T (p.Ala323Val) n.2713C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618536G>C | CA356143162 | EVC2 | c.2648C>G (p.Ala883Gly) c.2408C>G (p.Ala803Gly) c.*1041C>G (n.*1041C>G) c.2657C>G (p.Ala886Gly) c.2417C>G (p.Ala806Gly) c.968C>G (p.Ala323Gly) n.2713C>G | |
| 4 | g.5618536G= | CA1435421564 | EVC2 | c.2648C= (p.Ala883=) c.2408C= (p.Ala803=) c.*1041C= (n.*1041C=) c.2657C= (p.Ala886=) c.2417C= (p.Ala806=) c.968C= (p.Ala323=) n.2713C= | |
| 4 | g.5618536G>T | CA356143163 | EVC2 | c.2648C>A (p.Ala883Glu) c.2408C>A (p.Ala803Glu) c.*1041C>A (n.*1041C>A) c.2657C>A (p.Ala886Glu) c.2417C>A (p.Ala806Glu) c.968C>A (p.Ala323Glu) n.2713C>A | |
| 4 | g.5618537C>A | CA356143170 | EVC2 | c.2647G>T (p.Ala883Ser) c.2407G>T (p.Ala803Ser) c.*1040G>T (n.*1040G>T) c.2656G>T (p.Ala886Ser) c.2416G>T (p.Ala806Ser) c.967G>T (p.Ala323Ser) n.2712G>T | |
| 4 | g.5618537C>G | CA356143173 | EVC2 | c.2647G>C (p.Ala883Pro) c.2407G>C (p.Ala803Pro) c.*1040G>C (n.*1040G>C) c.2656G>C (p.Ala886Pro) c.2416G>C (p.Ala806Pro) c.967G>C (p.Ala323Pro) n.2712G>C | |
| 4 | g.5618537C>T | CA356143167 | EVC2 | c.2647G>A (p.Ala883Thr) c.2407G>A (p.Ala803Thr) c.*1040G>A (n.*1040G>A) c.2656G>A (p.Ala886Thr) c.2416G>A (p.Ala806Thr) c.967G>A (p.Ala323Thr) n.2712G>A | gnomAD v4 |
| 4 | g.5618538A>C | CA438203804 | EVC2 | c.2646T>G (p.Thr882=) c.2406T>G (p.Thr802=) c.*1039T>G (n.*1039T>G) c.2655T>G (p.Thr885=) c.2415T>G (p.Thr805=) c.966T>G (p.Thr322=) n.2711T>G | |
| 4 | g.5618538A>G | CA438203805 | EVC2 | c.2646T>C (p.Thr882=) c.2406T>C (p.Thr802=) c.*1039T>C (n.*1039T>C) c.2655T>C (p.Thr885=) c.2415T>C (p.Thr805=) c.966T>C (p.Thr322=) n.2711T>C | |
| 4 | g.5618538A>T | CA438203806 | EVC2 | c.2646T>A (p.Thr882=) c.2406T>A (p.Thr802=) c.*1039T>A (n.*1039T>A) c.2655T>A (p.Thr885=) c.2415T>A (p.Thr805=) c.966T>A (p.Thr322=) n.2711T>A | gnomAD v4 |
| 4 | g.5618539G>A | CA356143192 | EVC2 | c.2645C>T (p.Thr882Ile) c.2405C>T (p.Thr802Ile) c.*1038C>T (n.*1038C>T) c.2654C>T (p.Thr885Ile) c.2414C>T (p.Thr805Ile) c.965C>T (p.Thr322Ile) n.2710C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618539G>C | CA356143196 | EVC2 | c.2645C>G (p.Thr882Ser) c.2405C>G (p.Thr802Ser) c.*1038C>G (n.*1038C>G) c.2654C>G (p.Thr885Ser) c.2414C>G (p.Thr805Ser) c.965C>G (p.Thr322Ser) n.2710C>G | |
| 4 | g.5618539G= | CA1435421573 | EVC2 | c.2645C= (p.Thr882=) c.2405C= (p.Thr802=) c.*1038C= (n.*1038C=) c.2654C= (p.Thr885=) c.2414C= (p.Thr805=) c.965C= (p.Thr322=) n.2710C= | |
| 4 | g.5618539G>T | CA356143198 | EVC2 | c.2645C>A (p.Thr882Asn) c.2405C>A (p.Thr802Asn) c.*1038C>A (n.*1038C>A) c.2654C>A (p.Thr885Asn) c.2414C>A (p.Thr805Asn) c.965C>A (p.Thr322Asn) n.2710C>A | |
| 4 | g.5618540T>A | CA356143201 | EVC2 | c.2644A>T (p.Thr882Ser) c.2404A>T (p.Thr802Ser) c.*1037A>T (n.*1037A>T) c.2653A>T (p.Thr885Ser) c.2413A>T (p.Thr805Ser) c.964A>T (p.Thr322Ser) n.2709A>T | |
| 4 | g.5618540T>C | CA2834641 | EVC2 | c.2644A>G (p.Thr882Ala) c.2404A>G (p.Thr802Ala) c.*1037A>G (n.*1037A>G) c.2653A>G (p.Thr885Ala) c.2413A>G (p.Thr805Ala) c.964A>G (p.Thr322Ala) n.2709A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618540T>G | CA356143205 | EVC2 | c.2644A>C (p.Thr882Pro) c.2404A>C (p.Thr802Pro) c.*1037A>C (n.*1037A>C) c.2653A>C (p.Thr885Pro) c.2413A>C (p.Thr805Pro) c.964A>C (p.Thr322Pro) n.2709A>C | |
| 4 | g.5618540T= | CA1435421577 | EVC2 | c.2644A= (p.Thr882=) c.2404A= (p.Thr802=) c.*1037A= (n.*1037A=) c.2653A= (p.Thr885=) c.2413A= (p.Thr805=) c.964A= (p.Thr322=) n.2709A= | |
| 4 | g.5618541C>A | CA2834643 | EVC2 | c.2643G>T (p.Gln881His) c.2403G>T (p.Gln801His) c.*1036G>T (n.*1036G>T) c.2652G>T (p.Gln884His) c.2412G>T (p.Gln804His) c.963G>T (p.Gln321His) n.2708G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618541C= | CA1435421586 | EVC2 | c.2643G= (p.Gln881=) c.2403G= (p.Gln801=) c.*1036G= (n.*1036G=) c.2652G= (p.Gln884=) c.2412G= (p.Gln804=) c.963G= (p.Gln321=) n.2708G= | |
| 4 | g.5618541C>G | CA2834642 | EVC2 | c.2643G>C (p.Gln881His) c.2403G>C (p.Gln801His) c.*1036G>C (n.*1036G>C) c.2652G>C (p.Gln884His) c.2412G>C (p.Gln804His) c.963G>C (p.Gln321His) n.2708G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618541C>T | CA438203807 | EVC2 | c.2643G>A (p.Gln881=) c.2403G>A (p.Gln801=) c.*1036G>A (n.*1036G>A) c.2652G>A (p.Gln884=) c.2412G>A (p.Gln804=) c.963G>A (p.Gln321=) n.2708G>A | gnomAD v4 |
| 4 | g.5618542T>A | CA356143217 | EVC2 | c.2642A>T (p.Gln881Leu) c.2402A>T (p.Gln801Leu) c.*1035A>T (n.*1035A>T) c.2651A>T (p.Gln884Leu) c.2411A>T (p.Gln804Leu) c.962A>T (p.Gln321Leu) n.2707A>T | |
| 4 | g.5618542T>C | CA356143218 | EVC2 | c.2642A>G (p.Gln881Arg) c.2402A>G (p.Gln801Arg) c.*1035A>G (n.*1035A>G) c.2651A>G (p.Gln884Arg) c.2411A>G (p.Gln804Arg) c.962A>G (p.Gln321Arg) n.2707A>G | |
| 4 | g.5618542T>G | CA356143222 | EVC2 | c.2642A>C (p.Gln881Pro) c.2402A>C (p.Gln801Pro) c.*1035A>C (n.*1035A>C) c.2651A>C (p.Gln884Pro) c.2411A>C (p.Gln804Pro) c.962A>C (p.Gln321Pro) n.2707A>C | |
| 4 | g.5618543G>A | CA356143225 | EVC2 | c.2641C>T (p.Gln881Ter) c.2401C>T (p.Gln801Ter) c.*1034C>T (n.*1034C>T) c.2650C>T (p.Gln884Ter) c.2410C>T (p.Gln804Ter) c.961C>T (p.Gln321Ter) n.2706C>T | gnomAD v4 |
| 4 | g.5618543G>C | CA356143227 | EVC2 | c.2641C>G (p.Gln881Glu) c.2401C>G (p.Gln801Glu) c.*1034C>G (n.*1034C>G) c.2650C>G (p.Gln884Glu) c.2410C>G (p.Gln804Glu) c.961C>G (p.Gln321Glu) n.2706C>G | |
| 4 | g.5618543G>T | CA356143228 | EVC2 | c.2641C>A (p.Gln881Lys) c.2401C>A (p.Gln801Lys) c.*1034C>A (n.*1034C>A) c.2650C>A (p.Gln884Lys) c.2410C>A (p.Gln804Lys) c.961C>A (p.Gln321Lys) n.2706C>A | |
| 4 | g.5618544A= | CA1435421589 | EVC2 | c.2640T= (p.Phe880=) c.2400T= (p.Phe800=) c.*1033T= (n.*1033T=) c.2649T= (p.Phe883=) c.2409T= (p.Phe803=) c.960T= (p.Phe320=) n.2705T= | |
| 4 | g.5618544A>C | CA356143231 | EVC2 | c.2640T>G (p.Phe880Leu) c.2400T>G (p.Phe800Leu) c.*1033T>G (n.*1033T>G) c.2649T>G (p.Phe883Leu) c.2409T>G (p.Phe803Leu) c.960T>G (p.Phe320Leu) n.2705T>G | gnomAD v4 |
| 4 | g.5618544A>G | CA438203808 | EVC2 | c.2640T>C (p.Phe880=) c.2400T>C (p.Phe800=) c.*1033T>C (n.*1033T>C) c.2649T>C (p.Phe883=) c.2409T>C (p.Phe803=) c.960T>C (p.Phe320=) n.2705T>C | |
| 4 | g.5618544A>T | CA356143234 | EVC2 | c.2640T>A (p.Phe880Leu) c.2400T>A (p.Phe800Leu) c.*1033T>A (n.*1033T>A) c.2649T>A (p.Phe883Leu) c.2409T>A (p.Phe803Leu) c.960T>A (p.Phe320Leu) n.2705T>A | dbSNP |
| 4 | g.5618545A>C | CA356143242 | EVC2 | c.2639T>G (p.Phe880Cys) c.2399T>G (p.Phe800Cys) c.*1032T>G (n.*1032T>G) c.2648T>G (p.Phe883Cys) c.2408T>G (p.Phe803Cys) c.959T>G (p.Phe320Cys) n.2704T>G | |
| 4 | g.5618545A>G | CA356143243 | EVC2 | c.2639T>C (p.Phe880Ser) c.2399T>C (p.Phe800Ser) c.*1032T>C (n.*1032T>C) c.2648T>C (p.Phe883Ser) c.2408T>C (p.Phe803Ser) c.959T>C (p.Phe320Ser) n.2704T>C | |
| 4 | g.5618545A>T | CA356143244 | EVC2 | c.2639T>A (p.Phe880Tyr) c.2399T>A (p.Phe800Tyr) c.*1032T>A (n.*1032T>A) c.2648T>A (p.Phe883Tyr) c.2408T>A (p.Phe803Tyr) c.959T>A (p.Phe320Tyr) n.2704T>A |