Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31524692A= | CA2293857271 | DSG2 | n.660-11A= c.660-11A= c.829-11A= (n.829-11A=) c.295-11A= (n.295-11A=) | |
18 | g.31524692A>G | CA988920977 | DSG2 | n.660-11A>G c.660-11A>G c.829-11A>G (n.829-11A>G) c.295-11A>G (n.295-11A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524694G>A | CA2564298980 | DSG2 | n.660-9G>A c.660-9G>A c.829-9G>A (n.829-9G>A) c.295-9G>A (n.295-9G>A) | gnomAD v4 |
18 | g.31524694G>C | CA050236 | DSG2 | n.660-9G>C c.660-9G>C c.829-9G>C (n.829-9G>C) c.295-9G>C (n.295-9G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524694G= | CA2293857275 | DSG2 | n.660-9G= c.660-9G= c.829-9G= (n.829-9G=) c.295-9G= (n.295-9G=) | |
18 | g.31524695T>C | CA050234 | DSG2 | n.660-8T>C c.660-8T>C c.829-8T>C (n.829-8T>C) c.295-8T>C (n.295-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524695T= | CA2293857277 | DSG2 | n.660-8T= c.660-8T= c.829-8T= (n.829-8T=) c.295-8T= (n.295-8T=) | |
18 | g.31524698del | CA2576480520 | DSG2 | n.660-5del c.660-5del c.829-5del (n.829-5del) c.295-5del (n.295-5del) | gnomAD v4 |
18 | g.31524697T>C | CA2641406233 | DSG2 | n.660-6T>C c.660-6T>C c.829-6T>C (n.829-6T>C) c.295-6T>C (n.295-6T>C) | gnomAD v4 |
18 | g.31524698T>C | CA050226 | DSG2 | n.660-5T>C c.660-5T>C c.829-5T>C (n.829-5T>C) c.295-5T>C (n.295-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524698T= | CA2293857280 | DSG2 | n.660-5T= c.660-5T= c.829-5T= (n.829-5T=) c.295-5T= (n.295-5T=) | |
18 | g.31524699G>A | CA16608729 | DSG2 | n.660-4G>A c.660-4G>A c.829-4G>A (n.829-4G>A) c.295-4G>A (n.295-4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524699G= | CA2293857282 | DSG2 | n.660-4G= c.660-4G= c.829-4G= (n.829-4G=) c.295-4G= (n.295-4G=) | |
18 | g.31524699G>T | CA629453637 | DSG2 | n.660-4G>T c.660-4G>T c.829-4G>T (n.829-4G>T) c.295-4G>T (n.295-4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524700C>A | CA2573155224 | DSG2 | n.660-3C>A c.660-3C>A c.829-3C>A (n.829-3C>A) c.295-3C>A (n.295-3C>A) | ClinVar dbSNP |
18 | g.31524700C= | CA2293857284 | DSG2 | n.660-3C= c.660-3C= c.829-3C= (n.829-3C=) c.295-3C= (n.295-3C=) | |
18 | g.31524700C>T | CA778437081 | DSG2 | n.660-3C>T c.660-3C>T c.829-3C>T (n.829-3C>T) c.295-3C>T (n.295-3C>T) | dbSNP |
18 | g.31524701del | CA2573054646 | DSG2 | n.660-2del c.660-2del c.829-2del (n.829-2del) c.295-2del (n.295-2del) | dbSNP |
18 | g.31524701A>C | CA402135349 | DSG2 | n.660-2A>C c.660-2A>C c.829-2A>C (n.829-2A>C) c.295-2A>C (n.295-2A>C) | |
18 | g.31524701A>G | CA402135350 | DSG2 | n.660-2A>G c.660-2A>G c.829-2A>G (n.829-2A>G) c.295-2A>G (n.295-2A>G) | |
18 | g.31524701A>T | CA402135351 | DSG2 | n.660-2A>T c.660-2A>T c.829-2A>T (n.829-2A>T) c.295-2A>T (n.295-2A>T) | ClinVar dbSNP |
18 | g.31524701_31524709delinsAGCTTGAAG | CA2293857286 | DSG2 | n.660-2_666delinsAGCTTGAAG c.660-2_666delinsAGCTTGAAG c.829-2_835delinsAGCTTGAAG c.295-2_301delinsAGCTTGAAG | |
18 | g.31524701_31524713delinsAGCTTGAAGGGAT | CA2293857285 | DSG2 | n.660-2_670delinsAGCTTGAAGGGAT c.660-2_670delinsAGCTTGAAGGGAT c.829-2_839delinsAGCTTGAAGGGAT c.295-2_305delinsAGCTTGAAGGGAT | |
18 | g.31524702G>A | CA402135354 | DSG2 | n.660-1G>A c.660-1G>A c.829-1G>A (n.829-1G>A) c.295-1G>A (n.295-1G>A) | ClinVar |
18 | g.31524702G>C | CA402135356 | DSG2 | n.660-1G>C c.660-1G>C c.829-1G>C (n.829-1G>C) c.295-1G>C (n.295-1G>C) | gnomAD v4 |
18 | g.31524702G>T | CA402135357 | DSG2 | n.660-1G>T c.660-1G>T c.829-1G>T (n.829-1G>T) c.295-1G>T (n.295-1G>T) | |
18 | g.31524703_31524710del | CA778437092 | DSG2 | n.660_667del c.660_667del c.829_836del c.295_302del | dbSNP |
18 | g.31524703_31524714del | CA022276 | DSG2 | n.660_671del c.660_671del c.829_840del c.295_306del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524703_31524715del | CA2695227358 | DSG2 | n.660_672del c.660_672del c.829_841del c.295_307del | |
18 | g.31524703C>A | CA402135360 | DSG2 | n.660C>A c.660C>A c.829C>A (p.Leu277Ile) c.295C>A (p.Leu99Ile) | |
18 | g.31524703C>G | CA402135362 | DSG2 | n.660C>G c.660C>G c.829C>G (p.Leu277Val) c.295C>G (p.Leu99Val) | |
18 | g.31524703C>T | CA402135363 | DSG2 | n.660C>T c.660C>T c.829C>T (p.Leu277Phe) c.295C>T (p.Leu99Phe) | |
18 | g.31524704T>A | CA402135367 | DSG2 | n.661T>A c.661T>A c.830T>A (p.Leu277His) c.296T>A (p.Leu99His) | |
18 | g.31524704T>C | CA402135366 | DSG2 | n.661T>C c.661T>C c.830T>C (p.Leu277Pro) c.296T>C (p.Leu99Pro) | |
18 | g.31524704T>G | CA402135364 | DSG2 | n.661T>G c.661T>G c.830T>G (p.Leu277Arg) c.296T>G (p.Leu99Arg) | |
18 | g.31524705T>A | CA503599237 | DSG2 | n.662T>A c.662T>A c.831T>A (p.Leu277=) c.297T>A (p.Leu99=) | |
18 | g.31524705T>C | CA503599238 | DSG2 | n.662T>C c.662T>C c.831T>C (p.Leu277=) c.297T>C (p.Leu99=) | gnomAD v4 |
18 | g.31524705T>G | CA503599239 | DSG2 | n.662T>G c.662T>G c.831T>G (p.Leu277=) c.297T>G (p.Leu99=) | |
18 | g.31524706G>A | CA402135369 | DSG2 | n.663G>A c.663G>A c.832G>A (p.Glu278Lys) c.298G>A (p.Glu100Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524706G>C | CA402135370 | DSG2 | n.663G>C c.663G>C c.832G>C (p.Glu278Gln) c.298G>C (p.Glu100Gln) | |
18 | g.31524706G= | CA2293857295 | DSG2 | n.663G= c.663G= c.832G= (p.Glu278=) c.298G= (p.Glu100=) | |
18 | g.31524706G>T | CA402135372 | DSG2 | n.663G>T c.663G>T c.832G>T (p.Glu278Ter) c.298G>T (p.Glu100Ter) | |
18 | g.31524707A= | CA2293857298 | DSG2 | n.664A= c.664A= c.833A= (p.Glu278=) c.299A= (p.Glu100=) | |
18 | g.31524707A>C | CA402135374 | DSG2 | n.664A>C c.664A>C c.833A>C (p.Glu278Ala) c.299A>C (p.Glu100Ala) | |
18 | g.31524707A>G | CA402135376 | DSG2 | n.664A>G c.664A>G c.833A>G (p.Glu278Gly) c.299A>G (p.Glu100Gly) | gnomAD v4 |
18 | g.31524707A>T | CA402135377 | DSG2 | n.664A>T c.664A>T c.833A>T (p.Glu278Val) c.299A>T (p.Glu100Val) | dbSNP |
18 | g.31524708A= | CA2293857301 | DSG2 | n.665A= c.665A= c.834A= (p.Glu278=) c.300A= (p.Glu100=) | |
18 | g.31524708A>C | CA402135379 | DSG2 | n.665A>C c.665A>C c.834A>C (p.Glu278Asp) c.300A>C (p.Glu100Asp) | |
18 | g.31524708A>G | CA503599241 | DSG2 | n.665A>G c.665A>G c.834A>G (p.Glu278=) c.300A>G (p.Glu100=) | ClinVar dbSNP |
18 | g.31524708A>T | CA402135380 | DSG2 | n.665A>T c.665A>T c.834A>T (p.Glu278Asp) c.300A>T (p.Glu100Asp) |