Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31524747G>A | CA050346 | DSG2 | n.704G>A c.704G>A c.873G>A (p.Thr291=) c.339G>A (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31524747G>C | CA503599258 | DSG2 | n.704G>C c.704G>C c.873G>C (p.Thr291=) c.339G>C (p.Thr113=) | ClinVar dbSNP |
18 | g.31524747G= | CA2293856843 | DSG2 | n.704G= c.704G= c.873G= (p.Thr291=) c.339G= (p.Thr113=) | |
18 | g.31524747G>T | CA503599259 | DSG2 | n.704G>T c.704G>T c.873G>T (p.Thr291=) c.339G>T (p.Thr113=) | |
18 | g.31524748C>A | CA402135522 | DSG2 | n.705C>A c.705C>A c.874C>A (p.Arg292Ser) c.340C>A (p.Arg114Ser) | |
18 | g.31524748C= | CA2293856846 | DSG2 | n.705C= c.705C= c.874C= (p.Arg292=) c.340C= (p.Arg114=) | |
18 | g.31524748C>G | CA402135523 | DSG2 | n.705C>G c.705C>G c.874C>G (p.Arg292Gly) c.340C>G (p.Arg114Gly) | |
18 | g.31524748C>T | CA050352 | DSG2 | n.705C>T c.705C>T c.874C>T (p.Arg292Cys) c.340C>T (p.Arg114Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31524749G>A | CA022326 | DSG2 | n.706G>A c.706G>A c.875G>A (p.Arg292His) c.341G>A (p.Arg114His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524749G>C | CA402135527 | DSG2 | n.706G>C c.706G>C c.875G>C (p.Arg292Pro) c.341G>C (p.Arg114Pro) | |
18 | g.31524749G= | CA2293856851 | DSG2 | n.706G= c.706G= c.875G= (p.Arg292=) c.341G= (p.Arg114=) | |
18 | g.31524749G>T | CA022332 | DSG2 | n.706G>T c.706G>T c.875G>T (p.Arg292Leu) c.341G>T (p.Arg114Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524750C>A | CA503599260 | DSG2 | n.707C>A c.707C>A c.876C>A (p.Arg292=) c.342C>A (p.Arg114=) | |
18 | g.31524750C= | CA2293856856 | DSG2 | n.707C= c.707C= c.876C= (p.Arg292=) c.342C= (p.Arg114=) | |
18 | g.31524750C>G | CA503599261 | DSG2 | n.707C>G c.707C>G c.876C>G (p.Arg292=) c.342C>G (p.Arg114=) | |
18 | g.31524750C>T | CA503599262 | DSG2 | n.707C>T c.707C>T c.876C>T (p.Arg292=) c.342C>T (p.Arg114=) | dbSNP gnomAD v4 |
18 | g.31524750_31524751delinsTG | CA2739268639 | DSG2 | n.707_708delinsTG c.707_708delinsTG c.876_877delinsTG (p.Ile293Val) c.342_343delinsTG (p.Ile115Val) | ClinVar |
18 | g.31524751A= | CA2293856862 | DSG2 | n.708A= c.708A= c.877A= (p.Ile293=) c.343A= (p.Ile115=) | |
18 | g.31524751A>C | CA402135529 | DSG2 | n.708A>C c.708A>C c.877A>C (p.Ile293Leu) c.343A>C (p.Ile115Leu) | |
18 | g.31524751A>G | CA022337 | DSG2 | n.708A>G c.708A>G c.877A>G (p.Ile293Val) c.343A>G (p.Ile115Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524751A>T | CA022342 | DSG2 | n.708A>T c.708A>T c.877A>T (p.Ile293Leu) c.343A>T (p.Ile115Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524752T>A | CA402135532 | DSG2 | n.709T>A c.709T>A c.878T>A (p.Ile293Lys) c.344T>A (p.Ile115Lys) | gnomAD v4 |
18 | g.31524752T>C | CA402135534 | DSG2 | n.709T>C c.709T>C c.878T>C (p.Ile293Thr) c.344T>C (p.Ile115Thr) | |
18 | g.31524752T>G | CA402135535 | DSG2 | n.709T>G c.709T>G c.878T>G (p.Ile293Arg) c.344T>G (p.Ile115Arg) | |
18 | g.31524752T= | CA2293856867 | DSG2 | n.709T= c.709T= c.878T= (p.Ile293=) c.344T= (p.Ile115=) | |
18 | g.31524753A= | CA2293856871 | DSG2 | n.710A= c.710A= c.879A= (p.Ile293=) c.345A= (p.Ile115=) | |
18 | g.31524753A>C | CA503599263 | DSG2 | n.710A>C c.710A>C c.879A>C (p.Ile293=) c.345A>C (p.Ile115=) | |
18 | g.31524753A>G | CA402135537 | DSG2 | n.710A>G c.710A>G c.879A>G (p.Ile293Met) c.345A>G (p.Ile115Met) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524753A>T | CA503599264 | DSG2 | n.710A>T c.710A>T c.879A>T (p.Ile293=) c.345A>T (p.Ile115=) | |
18 | g.31524756dup | CA629453638 | DSG2 | n.713dup c.713dup c.882dup (p.Val295SerfsTer6) c.348dup (p.Val117SerfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524754A= | CA2293856880 | DSG2 | n.711A= c.711A= c.880A= (p.Lys294=) c.346A= (p.Lys116=) | |
18 | g.31524754A>C | CA402135541 | DSG2 | n.711A>C c.711A>C c.880A>C (p.Lys294Gln) c.346A>C (p.Lys116Gln) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524754A>G | CA022347 | DSG2 | n.711A>G c.711A>G c.880A>G (p.Lys294Glu) c.346A>G (p.Lys116Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524754A>T | CA402135539 | DSG2 | n.711A>T c.711A>T c.880A>T (p.Lys294Ter) c.346A>T (p.Lys116Ter) | |
18 | g.31524755A= | CA2293856883 | DSG2 | n.712A= c.712A= c.881A= (p.Lys294=) c.347A= (p.Lys116=) | |
18 | g.31524755A>C | CA402135543 | DSG2 | n.712A>C c.712A>C c.881A>C (p.Lys294Thr) c.347A>C (p.Lys116Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524755A>G | CA402135546 | DSG2 | n.712A>G c.712A>G c.881A>G (p.Lys294Arg) c.347A>G (p.Lys116Arg) | |
18 | g.31524755A>T | CA402135545 | DSG2 | n.712A>T c.712A>T c.881A>T (p.Lys294Ile) c.347A>T (p.Lys116Ile) | ClinVar dbSNP |
18 | g.31524756A= | CA2293856886 | DSG2 | n.713A= c.713A= c.882A= (p.Lys294=) c.348A= (p.Lys116=) | |
18 | g.31524756A>C | CA402135549 | DSG2 | n.713A>C c.713A>C c.882A>C (p.Lys294Asn) c.348A>C (p.Lys116Asn) | |
18 | g.31524756A>G | CA503599265 | DSG2 | n.713A>G c.713A>G c.882A>G (p.Lys294=) c.348A>G (p.Lys116=) | dbSNP |
18 | g.31524756A>T | CA402135550 | DSG2 | n.713A>T c.713A>T c.882A>T (p.Lys294Asn) c.348A>T (p.Lys116Asn) | |
18 | g.31524757G>A | CA402135552 | DSG2 | n.714G>A c.714G>A c.883G>A (p.Val295Met) c.349G>A (p.Val117Met) | |
18 | g.31524757G>C | CA402135557 | DSG2 | n.714G>C c.714G>C c.883G>C (p.Val295Leu) c.349G>C (p.Val117Leu) | |
18 | g.31524757G>T | CA402135559 | DSG2 | n.714G>T c.714G>T c.883G>T (p.Val295Leu) c.349G>T (p.Val117Leu) | |
18 | g.31524758T>A | CA402135561 | DSG2 | n.715T>A c.715T>A c.884T>A (p.Val295Glu) c.350T>A (p.Val117Glu) | |
18 | g.31524758T>C | CA050408 | DSG2 | n.715T>C c.715T>C c.884T>C (p.Val295Ala) c.350T>C (p.Val117Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524758T>G | CA402135563 | DSG2 | n.715T>G c.715T>G c.884T>G (p.Val295Gly) c.350T>G (p.Val117Gly) | |
18 | g.31524758T= | CA2293856888 | DSG2 | n.715T= c.715T= c.884T= (p.Val295=) c.350T= (p.Val117=) | |
18 | g.31524759G>A | CA503599266 | DSG2 | n.716G>A c.716G>A c.885G>A (p.Val295=) c.351G>A (p.Val117=) | ClinVar dbSNP |