Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) | |
18 | g.31524709G>A | CA402135381 | DSG2 | n.666G>A c.666G>A c.835G>A (p.Gly279Arg) c.301G>A (p.Gly101Arg) | |
18 | g.31524709G>C | CA402135383 | DSG2 | n.666G>C c.666G>C c.835G>C (p.Gly279Arg) c.301G>C (p.Gly101Arg) | |
18 | g.31524709G>T | CA402135384 | DSG2 | n.666G>T c.666G>T c.835G>T (p.Gly279Trp) c.301G>T (p.Gly101Trp) | |
18 | g.31524710G>A | CA402135385 | DSG2 | n.667G>A c.667G>A c.836G>A (p.Gly279Glu) c.302G>A (p.Gly101Glu) | |
18 | g.31524710G>C | CA402135386 | DSG2 | n.667G>C c.667G>C c.836G>C (p.Gly279Ala) c.302G>C (p.Gly101Ala) | |
18 | g.31524710G>T | CA402135387 | DSG2 | n.667G>T c.667G>T c.836G>T (p.Gly279Val) c.302G>T (p.Gly101Val) | |
18 | g.31524711G>A | CA297732069 | DSG2 | n.668G>A c.668G>A c.837G>A (p.Gly279=) c.303G>A (p.Gly101=) | dbSNP |
18 | g.31524711G>C | CA503599243 | DSG2 | n.668G>C c.668G>C c.837G>C (p.Gly279=) c.303G>C (p.Gly101=) | |
18 | g.31524711G= | CA2293857306 | DSG2 | n.668G= c.668G= c.837G= (p.Gly279=) c.303G= (p.Gly101=) | |
18 | g.31524711G>T | CA503599242 | DSG2 | n.668G>T c.668G>T c.837G>T (p.Gly279=) c.303G>T (p.Gly101=) | |
18 | g.31524712A= | CA2293857309 | DSG2 | n.669A= c.669A= c.838A= (p.Met280=) c.304A= (p.Met102=) | |
18 | g.31524712A>C | CA402135389 | DSG2 | n.669A>C c.669A>C c.838A>C (p.Met280Leu) c.304A>C (p.Met102Leu) | ClinVar dbSNP |
18 | g.31524712A>G | CA402135390 | DSG2 | n.669A>G c.669A>G c.838A>G (p.Met280Val) c.304A>G (p.Met102Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524712A>T | CA402135388 | DSG2 | n.669A>T c.669A>T c.838A>T (p.Met280Leu) c.304A>T (p.Met102Leu) | gnomAD v4 |
18 | g.31524713T>A | CA402135392 | DSG2 | n.670T>A c.670T>A c.839T>A (p.Met280Lys) c.305T>A (p.Met102Lys) | |
18 | g.31524713T>C | CA297732071 | DSG2 | n.670T>C c.670T>C c.839T>C (p.Met280Thr) c.305T>C (p.Met102Thr) | ClinVar dbSNP gnomAD v4 |
18 | g.31524713T>G | CA402135395 | DSG2 | n.670T>G c.670T>G c.839T>G (p.Met280Arg) c.305T>G (p.Met102Arg) | |
18 | g.31524713T= | CA2293857313 | DSG2 | n.670T= c.670T= c.839T= (p.Met280=) c.305T= (p.Met102=) | |
18 | g.31524714G>A | CA402135396 | DSG2 | n.671G>A c.671G>A c.840G>A (p.Met280Ile) c.306G>A (p.Met102Ile) | |
18 | g.31524714G>C | CA402135397 | DSG2 | n.671G>C c.671G>C c.840G>C (p.Met280Ile) c.306G>C (p.Met102Ile) | |
18 | g.31524714G>T | CA402135399 | DSG2 | n.671G>T c.671G>T c.840G>T (p.Met280Ile) c.306G>T (p.Met102Ile) | |
18 | g.31524715G>A | CA022282 | DSG2 | n.672G>A c.672G>A c.841G>A (p.Val281Ile) c.307G>A (p.Val103Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524715G>C | CA402135402 | DSG2 | n.672G>C c.672G>C c.841G>C (p.Val281Leu) c.307G>C (p.Val103Leu) | |
18 | g.31524715G= | CA2293857317 | DSG2 | n.672G= c.672G= c.841G= (p.Val281=) c.307G= (p.Val103=) | |
18 | g.31524715G>T | CA402135403 | DSG2 | n.672G>T c.672G>T c.841G>T (p.Val281Phe) c.307G>T (p.Val103Phe) | |
18 | g.31524716T>A | CA402135405 | DSG2 | n.673T>A c.673T>A c.842T>A (p.Val281Asp) c.308T>A (p.Val103Asp) | |
18 | g.31524716T>C | CA402135407 | DSG2 | n.673T>C c.673T>C c.842T>C (p.Val281Ala) c.308T>C (p.Val103Ala) | dbSNP gnomAD v4 |
18 | g.31524716T>G | CA402135408 | DSG2 | n.673T>G c.673T>G c.842T>G (p.Val281Gly) c.308T>G (p.Val103Gly) | |
18 | g.31524716T= | CA2293857322 | DSG2 | n.673T= c.673T= c.842T= (p.Val281=) c.308T= (p.Val103=) | |
18 | g.31524717T>A | CA503599244 | DSG2 | n.674T>A c.674T>A c.843T>A (p.Val281=) c.309T>A (p.Val103=) | |
18 | g.31524717T>C | CA503599245 | DSG2 | n.674T>C c.674T>C c.843T>C (p.Val281=) c.309T>C (p.Val103=) | dbSNP |
18 | g.31524717T>G | CA503599246 | DSG2 | n.674T>G c.674T>G c.843T>G (p.Val281=) c.309T>G (p.Val103=) | |
18 | g.31524717_31524720delinsTGAA | CA2293857325 | DSG2 | n.674_677delinsTGAA c.674_677delinsTGAA c.843_846delinsTGAA (p.Val281=) c.309_312delinsTGAA (p.Val103=) | |
18 | g.31524718G>A | CA402135413 | DSG2 | n.675G>A c.675G>A c.844G>A (p.Glu282Lys) c.310G>A (p.Glu104Lys) | gnomAD v4 |
18 | g.31524718G>C | CA402135410 | DSG2 | n.675G>C c.675G>C c.844G>C (p.Glu282Gln) c.310G>C (p.Glu104Gln) | |
18 | g.31524718G>T | CA402135411 | DSG2 | n.675G>T c.675G>T c.844G>T (p.Glu282Ter) c.310G>T (p.Glu104Ter) | |
18 | g.31524721_31524723del | CA778437105 | DSG2 | n.678_680del c.678_680del c.847_849del (p.Glu283del) c.313_315del (p.Glu105del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524719A>C | CA402135415 | DSG2 | n.676A>C c.676A>C c.845A>C (p.Glu282Ala) c.311A>C (p.Glu104Ala) | |
18 | g.31524719A>G | CA402135416 | DSG2 | n.676A>G c.676A>G c.845A>G (p.Glu282Gly) c.311A>G (p.Glu104Gly) | COSMIC |
18 | g.31524719A>T | CA402135418 | DSG2 | n.676A>T c.676A>T c.845A>T (p.Glu282Val) c.311A>T (p.Glu104Val) | |
18 | g.31524720A= | CA2293857333 | DSG2 | n.677A= c.677A= c.846A= (p.Glu282=) c.312A= (p.Glu104=) | |
18 | g.31524720A>C | CA402135420 | DSG2 | n.677A>C c.677A>C c.846A>C (p.Glu282Asp) c.312A>C (p.Glu104Asp) | |
18 | g.31524720A>G | CA050254 | DSG2 | n.677A>G c.677A>G c.846A>G (p.Glu282=) c.312A>G (p.Glu104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524720A>T | CA402135422 | DSG2 | n.677A>T c.677A>T c.846A>T (p.Glu282Asp) c.312A>T (p.Glu104Asp) | |
18 | g.31524721G>A | CA402135424 | DSG2 | n.678G>A c.678G>A c.847G>A (p.Glu283Lys) c.313G>A (p.Glu105Lys) | dbSNP gnomAD v4 COSMIC |
18 | g.31524721G>C | CA402135425 | DSG2 | n.678G>C c.678G>C c.847G>C (p.Glu283Gln) c.313G>C (p.Glu105Gln) | |
18 | g.31524721G>T | CA402135427 | DSG2 | n.678G>T c.678G>T c.847G>T (p.Glu283Ter) c.313G>T (p.Glu105Ter) | |
18 | g.31524722A>C | CA402135429 | DSG2 | n.679A>C c.679A>C c.848A>C (p.Glu283Ala) c.314A>C (p.Glu105Ala) | |
18 | g.31524722A>G | CA402135431 | DSG2 | n.679A>G c.679A>G c.848A>G (p.Glu283Gly) c.314A>G (p.Glu105Gly) | |
18 | g.31524722A>T | CA402135432 | DSG2 | n.679A>T c.679A>T c.848A>T (p.Glu283Val) c.314A>T (p.Glu105Val) | |
18 | g.31524723A>C | CA402135434 | DSG2 | n.680A>C c.680A>C c.849A>C (p.Glu283Asp) c.315A>C (p.Glu105Asp) | |
18 | g.31524723A>G | CA503599247 | DSG2 | n.680A>G c.680A>G c.849A>G (p.Glu283=) c.315A>G (p.Glu105=) | |
18 | g.31524723A>T | CA402135435 | DSG2 | n.680A>T c.680A>T c.849A>T (p.Glu283Asp) c.315A>T (p.Glu105Asp) | |
18 | g.31524723_31524727delinsAAATC | CA2293857336 | DSG2 | n.680_684delinsAAATC c.680_684delinsAAATC c.849_853delinsAAATC (p.Glu283=) c.315_319delinsAAATC (p.Glu105=) | |
18 | g.31524724A>C | CA402135437 | DSG2 | n.681A>C c.681A>C c.850A>C (p.Asn284His) c.316A>C (p.Asn106His) | |
18 | g.31524724A>G | CA402135440 | DSG2 | n.681A>G c.681A>G c.850A>G (p.Asn284Asp) c.316A>G (p.Asn106Asp) | |
18 | g.31524724A>T | CA402135439 | DSG2 | n.681A>T c.681A>T c.850A>T (p.Asn284Tyr) c.316A>T (p.Asn106Tyr) | |
18 | g.31524726_31524729del | CA778437111 | DSG2 | n.683_686del c.683_686del c.852_855del (p.Asn284LysfsTer4) c.318_321del (p.Asn106LysfsTer4) | dbSNP gnomAD v4 |
18 | g.31524725A>C | CA402135442 | DSG2 | n.682A>C c.682A>C c.851A>C (p.Asn284Thr) c.317A>C (p.Asn106Thr) | |
18 | g.31524725A>G | CA402135445 | DSG2 | n.682A>G c.682A>G c.851A>G (p.Asn284Ser) c.317A>G (p.Asn106Ser) | |
18 | g.31524725A>T | CA402135443 | DSG2 | n.682A>T c.682A>T c.851A>T (p.Asn284Ile) c.317A>T (p.Asn106Ile) | |
18 | g.31524726T>A | CA402135447 | DSG2 | n.683T>A c.683T>A c.852T>A (p.Asn284Lys) c.318T>A (p.Asn106Lys) | |
18 | g.31524726T>C | CA022294 | DSG2 | n.683T>C c.683T>C c.852T>C (p.Asn284=) c.318T>C (p.Asn106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524726T>G | CA402135448 | DSG2 | n.683T>G c.683T>G c.852T>G (p.Asn284Lys) c.318T>G (p.Asn106Lys) | |
18 | g.31524726T= | CA2293856781 | DSG2 | n.683T= c.683T= c.852T= (p.Asn284=) c.318T= (p.Asn106=) | |
18 | g.31524727C>A | CA402135450 | DSG2 | n.684C>A c.684C>A c.853C>A (p.Gln285Lys) c.319C>A (p.Gln107Lys) | |
18 | g.31524727C= | CA2293856788 | DSG2 | n.684C= c.684C= c.853C= (p.Gln285=) c.319C= (p.Gln107=) | |
18 | g.31524727C>G | CA050276 | DSG2 | n.684C>G c.684C>G c.853C>G (p.Gln285Glu) c.319C>G (p.Gln107Glu) | ClinVar dbSNP ExAC gnomAD v2 |
18 | g.31524727C>T | CA402135451 | DSG2 | n.684C>T c.684C>T c.853C>T (p.Gln285Ter) c.319C>T (p.Gln107Ter) | ClinVar gnomAD v4 |
18 | g.31524728A= | CA2293856790 | DSG2 | n.685A= c.685A= c.854A= (p.Gln285=) c.320A= (p.Gln107=) | |
18 | g.31524728A>C | CA402135455 | DSG2 | n.685A>C c.685A>C c.854A>C (p.Gln285Pro) c.320A>C (p.Gln107Pro) | |
18 | g.31524728A>G | CA402135456 | DSG2 | n.685A>G c.685A>G c.854A>G (p.Gln285Arg) c.320A>G (p.Gln107Arg) | |
18 | g.31524728A>T | CA050287 | DSG2 | n.685A>T c.685A>T c.854A>T (p.Gln285Leu) c.320A>T (p.Gln107Leu) | dbSNP ExAC gnomAD v2 |
18 | g.31524729A= | CA2293856795 | DSG2 | n.686A= c.686A= c.855A= (p.Gln285=) c.321A= (p.Gln107=) | |
18 | g.31524729A>C | CA402135457 | DSG2 | n.686A>C c.686A>C c.855A>C (p.Gln285His) c.321A>C (p.Gln107His) | |
18 | g.31524729A>G | CA503599248 | DSG2 | n.686A>G c.686A>G c.855A>G (p.Gln285=) c.321A>G (p.Gln107=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524729A>T | CA402135459 | DSG2 | n.686A>T c.686A>T c.855A>T (p.Gln285His) c.321A>T (p.Gln107His) | |
18 | g.31524730G>A | CA402135461 | DSG2 | n.687G>A c.687G>A c.856G>A (p.Val286Ile) c.322G>A (p.Val108Ile) | ClinVar dbSNP |
18 | g.31524730G>C | CA402135462 | DSG2 | n.687G>C c.687G>C c.856G>C (p.Val286Leu) c.322G>C (p.Val108Leu) | |
18 | g.31524730G= | CA2293856797 | DSG2 | n.687G= c.687G= c.856G= (p.Val286=) c.322G= (p.Val108=) | |
18 | g.31524730G>T | CA402135463 | DSG2 | n.687G>T c.687G>T c.856G>T (p.Val286Phe) c.322G>T (p.Val108Phe) | |
18 | g.31524731T>A | CA402135465 | DSG2 | n.688T>A c.688T>A c.857T>A (p.Val286Asp) c.323T>A (p.Val108Asp) | |
18 | g.31524731T>C | CA402135467 | DSG2 | n.688T>C c.688T>C c.857T>C (p.Val286Ala) c.323T>C (p.Val108Ala) | |
18 | g.31524731T>G | CA402135468 | DSG2 | n.688T>G c.688T>G c.857T>G (p.Val286Gly) c.323T>G (p.Val108Gly) | |
18 | g.31524732C>A | CA503599249 | DSG2 | n.689C>A c.689C>A c.858C>A (p.Val286=) c.324C>A (p.Val108=) | |
18 | g.31524732C= | CA2293856803 | DSG2 | n.689C= c.689C= c.858C= (p.Val286=) c.324C= (p.Val108=) | |
18 | g.31524732C>G | CA503599250 | DSG2 | n.689C>G c.689C>G c.858C>G (p.Val286=) c.324C>G (p.Val108=) | |
18 | g.31524732C>T | CA503599251 | DSG2 | n.689C>T c.689C>T c.858C>T (p.Val286=) c.324C>T (p.Val108=) | ClinVar dbSNP gnomAD v4 |
18 | g.31524733A>C | CA402135470 | DSG2 | n.690A>C c.690A>C c.859A>C (p.Asn287His) c.325A>C (p.Asn109His) | |
18 | g.31524733A>G | CA402135471 | DSG2 | n.690A>G c.690A>G c.859A>G (p.Asn287Asp) c.325A>G (p.Asn109Asp) | |
18 | g.31524733A>T | CA402135472 | DSG2 | n.690A>T c.690A>T c.859A>T (p.Asn287Tyr) c.325A>T (p.Asn109Tyr) | |
18 | g.31524734dup | CA988921017 | DSG2 | n.691dup c.691dup c.860dup (p.Asn287LysfsTer14) c.326dup (p.Asn109LysfsTer14) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524734A= | CA2293856809 | DSG2 | n.691A= c.691A= c.860A= (p.Asn287=) c.326A= (p.Asn109=) | |
18 | g.31524734A>C | CA402135477 | DSG2 | n.691A>C c.691A>C c.860A>C (p.Asn287Thr) c.326A>C (p.Asn109Thr) | |
18 | g.31524734A>G | CA402135475 | DSG2 | n.691A>G c.691A>G c.860A>G (p.Asn287Ser) c.326A>G (p.Asn109Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524734A>T | CA402135473 | DSG2 | n.691A>T c.691A>T c.860A>T (p.Asn287Ile) c.326A>T (p.Asn109Ile) | gnomAD v4 |
18 | g.31524735C>A | CA402135478 | DSG2 | n.692C>A c.692C>A c.861C>A (p.Asn287Lys) c.327C>A (p.Asn109Lys) | |
18 | g.31524735C= | CA2293856815 | DSG2 | n.692C= c.692C= c.861C= (p.Asn287=) c.327C= (p.Asn109=) | |
18 | g.31524735C>G | CA402135479 | DSG2 | n.692C>G c.692C>G c.861C>G (p.Asn287Lys) c.327C>G (p.Asn109Lys) | |
18 | g.31524735C>T | CA022299 | DSG2 | n.692C>T c.692C>T c.861C>T (p.Asn287=) c.327C>T (p.Asn109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524735_31524736delinsTC | CA2573054647 | DSG2 | n.692_693delinsTC c.692_693delinsTC c.861_862delinsTC (p.Val288Leu) c.327_328delinsTC (p.Val110Leu) | ClinVar dbSNP |
18 | g.31524735_31524737delinsCGT | CA2293856819 | DSG2 | n.692_694delinsCGT c.692_694delinsCGT c.861_863delinsCGT (p.Asn287=) c.327_329delinsCGT (p.Asn109=) | |
18 | g.31524735_31524737delinsTGG | CA913188926 | DSG2 | n.692_694delinsTGG c.692_694delinsTGG c.861_863delinsTGG (p.Val288Gly) c.327_329delinsTGG (p.Val110Gly) | ClinVar dbSNP |
18 | g.31524736G>A | CA022303 | DSG2 | n.693G>A c.693G>A c.862G>A (p.Val288Ile) c.328G>A (p.Val110Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524736G>C | CA402135482 | DSG2 | n.693G>C c.693G>C c.862G>C (p.Val288Leu) c.328G>C (p.Val110Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524736G= | CA2293856828 | DSG2 | n.693G= c.693G= c.862G= (p.Val288=) c.328G= (p.Val110=) | |
18 | g.31524736G>T | CA402135483 | DSG2 | n.693G>T c.693G>T c.862G>T (p.Val288Leu) c.328G>T (p.Val110Leu) | |
18 | g.31524737T>A | CA402135484 | DSG2 | n.694T>A c.694T>A c.863T>A (p.Val288Glu) c.329T>A (p.Val110Glu) | |
18 | g.31524737T>C | CA402135486 | DSG2 | n.694T>C c.694T>C c.863T>C (p.Val288Ala) c.329T>C (p.Val110Ala) | |
18 | g.31524737T>G | CA050316 | DSG2 | n.694T>G c.694T>G c.863T>G (p.Val288Gly) c.329T>G (p.Val110Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524737T= | CA2293856832 | DSG2 | n.694T= c.694T= c.863T= (p.Val288=) c.329T= (p.Val110=) | |
18 | g.31524737dup | CA2825002681 | DSG2 | n.694dup c.694dup c.863dup (p.Glu289ArgfsTer12) c.329dup (p.Glu111ArgfsTer12) | ClinVar |
18 | g.31524738A>C | CA503599254 | DSG2 | n.695A>C c.695A>C c.864A>C (p.Val288=) c.330A>C (p.Val110=) | |
18 | g.31524738A>G | CA503599253 | DSG2 | n.695A>G c.695A>G c.864A>G (p.Val288=) c.330A>G (p.Val110=) | gnomAD v4 |
18 | g.31524738A>T | CA503599252 | DSG2 | n.695A>T c.695A>T c.864A>T (p.Val288=) c.330A>T (p.Val110=) | ClinVar |
18 | g.31524739G>A | CA402135488 | DSG2 | n.696G>A c.696G>A c.865G>A (p.Glu289Lys) c.331G>A (p.Glu111Lys) | gnomAD v4 |
18 | g.31524739G>C | CA402135490 | DSG2 | n.696G>C c.696G>C c.865G>C (p.Glu289Gln) c.331G>C (p.Glu111Gln) | |
18 | g.31524739G>T | CA402135491 | DSG2 | n.696G>T c.696G>T c.865G>T (p.Glu289Ter) c.331G>T (p.Glu111Ter) | |
18 | g.31524740A>C | CA402135496 | DSG2 | n.697A>C c.697A>C c.866A>C (p.Glu289Ala) c.332A>C (p.Glu111Ala) | |
18 | g.31524740A>G | CA402135495 | DSG2 | n.697A>G c.697A>G c.866A>G (p.Glu289Gly) c.332A>G (p.Glu111Gly) | |
18 | g.31524740A>T | CA402135494 | DSG2 | n.697A>T c.697A>T c.866A>T (p.Glu289Val) c.332A>T (p.Glu111Val) | gnomAD v4 |
18 | g.31524741A>C | CA402135500 | DSG2 | n.698A>C c.698A>C c.867A>C (p.Glu289Asp) c.333A>C (p.Glu111Asp) | |
18 | g.31524741A>G | CA503599255 | DSG2 | n.698A>G c.698A>G c.867A>G (p.Glu289=) c.333A>G (p.Glu111=) | |
18 | g.31524741A>T | CA402135499 | DSG2 | n.698A>T c.698A>T c.867A>T (p.Glu289Asp) c.333A>T (p.Glu111Asp) | ClinVar dbSNP |
18 | g.31524742G>A | CA402135501 | DSG2 | n.699G>A c.699G>A c.868G>A (p.Val290Ile) c.334G>A (p.Val112Ile) | |
18 | g.31524742G>C | CA402135503 | DSG2 | n.699G>C c.699G>C c.868G>C (p.Val290Leu) c.334G>C (p.Val112Leu) | |
18 | g.31524742G>T | CA402135505 | DSG2 | n.699G>T c.699G>T c.868G>T (p.Val290Phe) c.334G>T (p.Val112Phe) | |
18 | g.31524743T>A | CA402135506 | DSG2 | n.700T>A c.700T>A c.869T>A (p.Val290Asp) c.335T>A (p.Val112Asp) | |
18 | g.31524743T>C | CA402135508 | DSG2 | n.700T>C c.700T>C c.869T>C (p.Val290Ala) c.335T>C (p.Val112Ala) | |
18 | g.31524743T>G | CA402135510 | DSG2 | n.700T>G c.700T>G c.869T>G (p.Val290Gly) c.335T>G (p.Val112Gly) | ClinVar dbSNP |
18 | g.31524744T>A | CA503599256 | DSG2 | n.701T>A c.701T>A c.870T>A (p.Val290=) c.336T>A (p.Val112=) | |
18 | g.31524744T>C | CA050329 | DSG2 | n.701T>C c.701T>C c.870T>C (p.Val290=) c.336T>C (p.Val112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524744T>G | CA503599257 | DSG2 | n.701T>G c.701T>G c.870T>G (p.Val290=) c.336T>G (p.Val112=) | |
18 | g.31524744T= | CA2293856833 | DSG2 | n.701T= c.701T= c.870T= (p.Val290=) c.336T= (p.Val112=) | |
18 | g.31524745A>C | CA402135512 | DSG2 | n.702A>C c.702A>C c.871A>C (p.Thr291Pro) c.337A>C (p.Thr113Pro) | |
18 | g.31524745A>G | CA402135514 | DSG2 | n.702A>G c.702A>G c.871A>G (p.Thr291Ala) c.337A>G (p.Thr113Ala) | |
18 | g.31524745A>T | CA402135516 | DSG2 | n.702A>T c.702A>T c.871A>T (p.Thr291Ser) c.337A>T (p.Thr113Ser) | |
18 | g.31524745dup | CA297732146 | DSG2 | n.702dup c.702dup c.871dup (p.Thr291AsnfsTer10) c.337dup (p.Thr113AsnfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524746C>A | CA402135518 | DSG2 | n.703C>A c.703C>A c.872C>A (p.Thr291Lys) c.338C>A (p.Thr113Lys) | |
18 | g.31524746C= | CA2293856839 | DSG2 | n.703C= c.703C= c.872C= (p.Thr291=) c.338C= (p.Thr113=) | |
18 | g.31524746C>G | CA402135519 | DSG2 | n.703C>G c.703C>G c.872C>G (p.Thr291Arg) c.338C>G (p.Thr113Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524746C>T | CA050339 | DSG2 | n.703C>T c.703C>T c.872C>T (p.Thr291Met) c.338C>T (p.Thr113Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
18 | g.31524759G>C | CA503599267 | DSG2 | n.716G>C c.716G>C c.885G>C (p.Val295=) c.351G>C (p.Val117=) | |
18 | g.31524759G= | CA2293856895 | DSG2 | n.716G= c.716G= c.885G= (p.Val295=) c.351G= (p.Val117=) | |
18 | g.31524759G>T | CA050421 | DSG2 | n.716G>T c.716G>T c.885G>T (p.Val295=) c.351G>T (p.Val117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524760T>A | CA402135566 | DSG2 | n.717T>A c.717T>A c.886T>A (p.Phe296Ile) c.352T>A (p.Phe118Ile) | |
18 | g.31524760T>C | CA402135567 | DSG2 | n.717T>C c.717T>C c.886T>C (p.Phe296Leu) c.352T>C (p.Phe118Leu) | |
18 | g.31524760T>G | CA402135569 | DSG2 | n.717T>G c.717T>G c.886T>G (p.Phe296Val) c.352T>G (p.Phe118Val) | dbSNP |
18 | g.31524760T= | CA2293856898 | DSG2 | n.717T= c.717T= c.886T= (p.Phe296=) c.352T= (p.Phe118=) | |
18 | g.31524761T>A | CA402135574 | DSG2 | n.718T>A c.718T>A c.887T>A (p.Phe296Tyr) c.353T>A (p.Phe118Tyr) | |
18 | g.31524761T>C | CA402135571 | DSG2 | n.718T>C c.718T>C c.887T>C (p.Phe296Ser) c.353T>C (p.Phe118Ser) | |
18 | g.31524761T>G | CA402135573 | DSG2 | n.718T>G c.718T>G c.887T>G (p.Phe296Cys) c.353T>G (p.Phe118Cys) | |
18 | g.31524762C>A | CA402135576 | DSG2 | n.719C>A c.719C>A c.888C>A (p.Phe296Leu) c.354C>A (p.Phe118Leu) | |
18 | g.31524762C= | CA2293856905 | DSG2 | n.719C= c.719C= c.888C= (p.Phe296=) c.354C= (p.Phe118=) | |
18 | g.31524762C>G | CA402135577 | DSG2 | n.719C>G c.719C>G c.888C>G (p.Phe296Leu) c.354C>G (p.Phe118Leu) | ClinVar gnomAD v4 |
18 | g.31524762C>T | CA297732230 | DSG2 | n.719C>T c.719C>T c.888C>T (p.Phe296=) c.354C>T (p.Phe118=) | ClinVar dbSNP gnomAD v4 |
18 | g.31524762_31524768delinsCGATGCA | CA2293856901 | DSG2 | n.719_725delinsCGATGCA c.719_725delinsCGATGCA c.888_894delinsCGATGCA (p.Phe296=) c.354_360delinsCGATGCA (p.Phe118=) | |
18 | g.31524763G>A | CA022349 | DSG2 | n.720G>A c.720G>A c.889G>A (p.Asp297Asn) c.355G>A (p.Asp119Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524763G>C | CA402135579 | DSG2 | n.720G>C c.720G>C c.889G>C (p.Asp297His) c.355G>C (p.Asp119His) | |
18 | g.31524763G= | CA2293856910 | DSG2 | n.720G= c.720G= c.889G= (p.Asp297=) c.355G= (p.Asp119=) | |
18 | g.31524763G>T | CA402135581 | DSG2 | n.720G>T c.720G>T c.889G>T (p.Asp297Tyr) c.355G>T (p.Asp119Tyr) | |
18 | g.31524767_31524772del | CA629453640 | DSG2 | n.724_729del c.724_729del c.893_898del (p.Ala298_Asp299del) c.359_364del (p.Ala120_Asp121del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524764A= | CA2293856914 | DSG2 | n.721A= c.721A= c.890A= (p.Asp297=) c.356A= (p.Asp119=) | |
18 | g.31524764A>C | CA402135582 | DSG2 | n.721A>C c.721A>C c.890A>C (p.Asp297Ala) c.356A>C (p.Asp119Ala) | |
18 | g.31524764A>G | CA402135583 | DSG2 | n.721A>G c.721A>G c.890A>G (p.Asp297Gly) c.356A>G (p.Asp119Gly) | dbSNP |
18 | g.31524764A>T | CA402135585 | DSG2 | n.721A>T c.721A>T c.890A>T (p.Asp297Val) c.356A>T (p.Asp119Val) | ClinVar dbSNP |
18 | g.31524765T>A | CA402135586 | DSG2 | n.722T>A c.722T>A c.891T>A (p.Asp297Glu) c.357T>A (p.Asp119Glu) | |
18 | g.31524765T>C | CA503599268 | DSG2 | n.722T>C c.722T>C c.891T>C (p.Asp297=) c.357T>C (p.Asp119=) | ClinVar dbSNP gnomAD v2 |
18 | g.31524765T>G | CA402135588 | DSG2 | n.722T>G c.722T>G c.891T>G (p.Asp297Glu) c.357T>G (p.Asp119Glu) | |
18 | g.31524765T= | CA2293856919 | DSG2 | n.722T= c.722T= c.891T= (p.Asp297=) c.357T= (p.Asp119=) | |
18 | g.31524766G>A | CA297732266 | DSG2 | n.723G>A c.723G>A c.892G>A (p.Ala298Thr) c.358G>A (p.Ala120Thr) | dbSNP |
18 | g.31524766G>C | CA402135592 | DSG2 | n.723G>C c.723G>C c.892G>C (p.Ala298Pro) c.358G>C (p.Ala120Pro) | |
18 | g.31524766G= | CA2293856921 | DSG2 | n.723G= c.723G= c.892G= (p.Ala298=) c.358G= (p.Ala120=) | |
18 | g.31524766G>T | CA402135590 | DSG2 | n.723G>T c.723G>T c.892G>T (p.Ala298Ser) c.358G>T (p.Ala120Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524767C>A | CA402135594 | DSG2 | n.724C>A c.724C>A c.893C>A (p.Ala298Glu) c.359C>A (p.Ala120Glu) | gnomAD v4 |
18 | g.31524767C= | CA2293856927 | DSG2 | n.724C= c.724C= c.893C= (p.Ala298=) c.359C= (p.Ala120=) | |
18 | g.31524767C>G | CA402135596 | DSG2 | n.724C>G c.724C>G c.893C>G (p.Ala298Gly) c.359C>G (p.Ala120Gly) | ClinVar dbSNP |
18 | g.31524767C>T | CA402135597 | DSG2 | n.724C>T c.724C>T c.893C>T (p.Ala298Val) c.359C>T (p.Ala120Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524768A>C | CA503599269 | DSG2 | n.725A>C c.725A>C c.894A>C (p.Ala298=) c.360A>C (p.Ala120=) | gnomAD v4 |
18 | g.31524768A>G | CA503599270 | DSG2 | n.725A>G c.725A>G c.894A>G (p.Ala298=) c.360A>G (p.Ala120=) | gnomAD v4 |
18 | g.31524768A>T | CA503599271 | DSG2 | n.725A>T c.725A>T c.894A>T (p.Ala298=) c.360A>T (p.Ala120=) | |
18 | g.31524769G>A | CA297732272 | DSG2 | n.726G>A c.726G>A c.895G>A (p.Asp299Asn) c.361G>A (p.Asp121Asn) | dbSNP |
18 | g.31524769G>C | CA402135600 | DSG2 | n.726G>C c.726G>C c.895G>C (p.Asp299His) c.361G>C (p.Asp121His) | |
18 | g.31524769G= | CA2293856931 | DSG2 | n.726G= c.726G= c.895G= (p.Asp299=) c.361G= (p.Asp121=) | |
18 | g.31524769G>T | CA402135602 | DSG2 | n.726G>T c.726G>T c.895G>T (p.Asp299Tyr) c.361G>T (p.Asp121Tyr) | |
18 | g.31524770A= | CA2293856933 | DSG2 | n.727A= c.727A= c.896A= (p.Asp299=) c.362A= (p.Asp121=) | |
18 | g.31524770A>C | CA402135608 | DSG2 | n.727A>C c.727A>C c.896A>C (p.Asp299Ala) c.362A>C (p.Asp121Ala) | dbSNP |
18 | g.31524770A>G | CA402135604 | DSG2 | n.727A>G c.727A>G c.896A>G (p.Asp299Gly) c.362A>G (p.Asp121Gly) | |
18 | g.31524770A>T | CA402135606 | DSG2 | n.727A>T c.727A>T c.896A>T (p.Asp299Val) c.362A>T (p.Asp121Val) | |
18 | g.31524771T>A | CA402135609 | DSG2 | n.728T>A c.728T>A c.897T>A (p.Asp299Glu) c.363T>A (p.Asp121Glu) | |
18 | g.31524771T>C | CA503599272 | DSG2 | n.728T>C c.728T>C c.897T>C (p.Asp299=) c.363T>C (p.Asp121=) | gnomAD v4 |
18 | g.31524771T>G | CA402135611 | DSG2 | n.728T>G c.728T>G c.897T>G (p.Asp299Glu) c.363T>G (p.Asp121Glu) | |
18 | g.31524772G>A | CA297732277 | DSG2 | n.729G>A c.729G>A c.898G>A (p.Glu300Lys) c.364G>A (p.Glu122Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524772G>C | CA402135613 | DSG2 | n.729G>C c.729G>C c.898G>C (p.Glu300Gln) c.364G>C (p.Glu122Gln) | |
18 | g.31524772G= | CA2293856935 | DSG2 | n.729G= c.729G= c.898G= (p.Glu300=) c.364G= (p.Glu122=) | |
18 | g.31524772G>T | CA402135614 | DSG2 | n.729G>T c.729G>T c.898G>T (p.Glu300Ter) c.364G>T (p.Glu122Ter) | |
18 | g.31524773A>C | CA402135615 | DSG2 | n.730A>C c.730A>C c.899A>C (p.Glu300Ala) c.365A>C (p.Glu122Ala) | |
18 | g.31524773A>G | CA402135619 | DSG2 | n.730A>G c.730A>G c.899A>G (p.Glu300Gly) c.365A>G (p.Glu122Gly) | |
18 | g.31524773A>T | CA402135617 | DSG2 | n.730A>T c.730A>T c.899A>T (p.Glu300Val) c.365A>T (p.Glu122Val) | |
18 | g.31524775del | CA2641406234 | DSG2 | n.732del c.732del c.901del (p.Ile301Ter) c.367del (p.Ile123Ter) | gnomAD v4 |
18 | g.31524774A>C | CA402135621 | DSG2 | n.731A>C c.731A>C c.900A>C (p.Glu300Asp) c.366A>C (p.Glu122Asp) | |
18 | g.31524774A>G | CA503599273 | DSG2 | n.731A>G c.731A>G c.900A>G (p.Glu300=) c.366A>G (p.Glu122=) | |
18 | g.31524774A>T | CA402135622 | DSG2 | n.731A>T c.731A>T c.900A>T (p.Glu300Asp) c.366A>T (p.Glu122Asp) | |
18 | g.31524775A= | CA2293856940 | DSG2 | n.732A= c.732A= c.901A= (p.Ile301=) c.367A= (p.Ile123=) | |
18 | g.31524775A>C | CA402135623 | DSG2 | n.732A>C c.732A>C c.901A>C (p.Ile301Leu) c.367A>C (p.Ile123Leu) | |
18 | g.31524775A>G | CA402135624 | DSG2 | n.732A>G c.732A>G c.901A>G (p.Ile301Val) c.367A>G (p.Ile123Val) | |
18 | g.31524775A>T | CA402135625 | DSG2 | n.732A>T c.732A>T c.901A>T (p.Ile301Leu) c.367A>T (p.Ile123Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.31524775_31524776delinsAT | CA2293856939 | DSG2 | n.732_733delinsAT c.732_733delinsAT c.901_902delinsAT (p.Ile301=) c.367_368delinsAT (p.Ile123=) | |
18 | g.31524776del | CA050440 | DSG2 | n.733del c.733del c.902del (p.Ile301LysfsTer23) c.368del (p.Ile123LysfsTer23) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524776T>A | CA402135626 | DSG2 | n.733T>A c.733T>A c.902T>A (p.Ile301Lys) c.368T>A (p.Ile123Lys) | |
18 | g.31524776T>C | CA402135627 | DSG2 | n.733T>C c.733T>C c.902T>C (p.Ile301Thr) c.368T>C (p.Ile123Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524776T>G | CA402135628 | DSG2 | n.733T>G c.733T>G c.902T>G (p.Ile301Arg) c.368T>G (p.Ile123Arg) | |
18 | g.31524776T= | CA2293856943 | DSG2 | n.733T= c.733T= c.902T= (p.Ile301=) c.368T= (p.Ile123=) | |
18 | g.31524777A>C | CA503599274 | DSG2 | n.734A>C c.734A>C c.903A>C (p.Ile301=) c.369A>C (p.Ile123=) | |
18 | g.31524777A>G | CA402135629 | DSG2 | n.734A>G c.734A>G c.903A>G (p.Ile301Met) c.369A>G (p.Ile123Met) | gnomAD v4 |
18 | g.31524777A>T | CA503599275 | DSG2 | n.734A>T c.734A>T c.903A>T (p.Ile301=) c.369A>T (p.Ile123=) | gnomAD v4 |
18 | g.31524778G>A | CA402135630 | DSG2 | n.735G>A c.735G>A c.904G>A (p.Gly302Ser) c.370G>A (p.Gly124Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.31524778G>C | CA402135632 | DSG2 | n.735G>C c.735G>C c.904G>C (p.Gly302Arg) c.370G>C (p.Gly124Arg) | |
18 | g.31524778G= | CA2293856944 | DSG2 | n.735G= c.735G= c.904G= (p.Gly302=) c.370G= (p.Gly124=) | |
18 | g.31524778G>T | CA402135631 | DSG2 | n.735G>T c.735G>T c.904G>T (p.Gly302Cys) c.370G>T (p.Gly124Cys) | |
18 | g.31524779G>A | CA402135633 | DSG2 | n.736G>A c.736G>A c.905G>A (p.Gly302Asp) c.371G>A (p.Gly124Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.31524779G>C | CA402135634 | DSG2 | n.736G>C c.736G>C c.905G>C (p.Gly302Ala) c.371G>C (p.Gly124Ala) | |
18 | g.31524779G= | CA2293856946 | DSG2 | n.736G= c.736G= c.905G= (p.Gly302=) c.371G= (p.Gly124=) | |
18 | g.31524779G>T | CA402135635 | DSG2 | n.736G>T c.736G>T c.905G>T (p.Gly302Val) c.371G>T (p.Gly124Val) | |
18 | g.31524780T>A | CA503599276 | DSG2 | n.737T>A c.737T>A c.906T>A (p.Gly302=) c.372T>A (p.Gly124=) | |
18 | g.31524780T>C | CA503599277 | DSG2 | n.737T>C c.737T>C c.906T>C (p.Gly302=) c.372T>C (p.Gly124=) | dbSNP |
18 | g.31524780T>G | CA503599278 | DSG2 | n.737T>G c.737T>G c.906T>G (p.Gly302=) c.372T>G (p.Gly124=) | |
18 | g.31524780T= | CA2293856948 | DSG2 | n.737T= c.737T= c.906T= (p.Gly302=) c.372T= (p.Gly124=) | |
18 | g.31524781T>A | CA402135636 | DSG2 | n.738T>A c.738T>A c.907T>A (p.Ser303Thr) c.373T>A (p.Ser125Thr) | |
18 | g.31524781T>C | CA402135637 | DSG2 | n.738T>C c.738T>C c.907T>C (p.Ser303Pro) c.373T>C (p.Ser125Pro) | |
18 | g.31524781T>G | CA402135638 | DSG2 | n.738T>G c.738T>G c.907T>G (p.Ser303Ala) c.373T>G (p.Ser125Ala) | |
18 | g.31524782C>A | CA402135639 | DSG2 | n.739C>A c.739C>A c.908C>A (p.Ser303Tyr) c.374C>A (p.Ser125Tyr) | |
18 | g.31524782C= | CA2293856950 | DSG2 | n.739C= c.739C= c.908C= (p.Ser303=) c.374C= (p.Ser125=) | |
18 | g.31524782C>G | CA402135640 | DSG2 | n.739C>G c.739C>G c.908C>G (p.Ser303Cys) c.374C>G (p.Ser125Cys) | |
18 | g.31524782C>T | CA050446 | DSG2 | n.739C>T c.739C>T c.908C>T (p.Ser303Phe) c.374C>T (p.Ser125Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524783del | CA2573155225 | DSG2 | n.740del c.740del c.909del (p.Asp304IlefsTer20) c.375del (p.Asp126IlefsTer20) | ClinVar dbSNP |
18 | g.31524783T>A | CA050457 | DSG2 | n.740T>A c.740T>A c.909T>A (p.Ser303=) c.375T>A (p.Ser125=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524783T>C | CA503599280 | DSG2 | n.740T>C c.740T>C c.909T>C (p.Ser303=) c.375T>C (p.Ser125=) | |
18 | g.31524783T>G | CA503599279 | DSG2 | n.740T>G c.740T>G c.909T>G (p.Ser303=) c.375T>G (p.Ser125=) | |
18 | g.31524783T= | CA2293856952 | DSG2 | n.740T= c.740T= c.909T= (p.Ser303=) c.375T= (p.Ser125=) | |
18 | g.31524784G>A | CA402135641 | DSG2 | n.741G>A c.741G>A c.910G>A (p.Asp304Asn) c.376G>A (p.Asp126Asn) | |
18 | g.31524784G>C | CA402135642 | DSG2 | n.741G>C c.741G>C c.910G>C (p.Asp304His) c.376G>C (p.Asp126His) | |
18 | g.31524784G>T | CA402135643 | DSG2 | n.741G>T c.741G>T c.910G>T (p.Asp304Tyr) c.376G>T (p.Asp126Tyr) | |
18 | g.31524785A>C | CA402135646 | DSG2 | n.742A>C c.742A>C c.911A>C (p.Asp304Ala) c.377A>C (p.Asp126Ala) | |
18 | g.31524785A>G | CA402135645 | DSG2 | n.742A>G c.742A>G c.911A>G (p.Asp304Gly) c.377A>G (p.Asp126Gly) | gnomAD v4 |
18 | g.31524785A>T | CA402135644 | DSG2 | n.742A>T c.742A>T c.911A>T (p.Asp304Val) c.377A>T (p.Asp126Val) | gnomAD v4 |
18 | g.31524786T>A | CA402135647 | DSG2 | n.743T>A c.743T>A c.912T>A (p.Asp304Glu) c.378T>A (p.Asp126Glu) | |
18 | g.31524786T>C | CA503599281 | DSG2 | n.743T>C c.743T>C c.912T>C (p.Asp304=) c.378T>C (p.Asp126=) | ClinVar |
18 | g.31524786T>G | CA402135648 | DSG2 | n.743T>G c.743T>G c.912T>G (p.Asp304Glu) c.378T>G (p.Asp126Glu) | |
18 | g.31524786_31524815delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA | CA2580095685 | DSG2 | n.743_772delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA c.743_772delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304GlufsTer11) c.378_407delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp126GlufsTer11) | ClinVar |
18 | g.31524787A= | CA2293856954 | DSG2 | n.744A= c.744A= c.913A= (p.Asn305=) c.379A= (p.Asn127=) | |
18 | g.31524787A>C | CA402135649 | DSG2 | n.744A>C c.744A>C c.913A>C (p.Asn305His) c.379A>C (p.Asn127His) | |
18 | g.31524787A>G | CA402135650 | DSG2 | n.744A>G c.744A>G c.913A>G (p.Asn305Asp) c.379A>G (p.Asn127Asp) | ClinVar dbSNP |
18 | g.31524787A>T | CA402135651 | DSG2 | n.744A>T c.744A>T c.913A>T (p.Asn305Tyr) c.379A>T (p.Asn127Tyr) | |
18 | g.31524788A= | CA2293856956 | DSG2 | n.745A= c.745A= c.914A= (p.Asn305=) c.380A= (p.Asn127=) | |
18 | g.31524788A>C | CA402135652 | DSG2 | n.745A>C c.745A>C c.914A>C (p.Asn305Thr) c.380A>C (p.Asn127Thr) | |
18 | g.31524788A>G | CA402135653 | DSG2 | n.745A>G c.745A>G c.914A>G (p.Asn305Ser) c.380A>G (p.Asn127Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.31524788A>T | CA402135654 | DSG2 | n.745A>T c.745A>T c.914A>T (p.Asn305Ile) c.380A>T (p.Asn127Ile) | |
18 | g.31524789T>A | CA402135655 | DSG2 | n.746T>A c.746T>A c.915T>A (p.Asn305Lys) c.381T>A (p.Asn127Lys) | |
18 | g.31524789T>C | CA503599282 | DSG2 | n.746T>C c.746T>C c.915T>C (p.Asn305=) c.381T>C (p.Asn127=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524789T>G | CA402135656 | DSG2 | n.746T>G c.746T>G c.915T>G (p.Asn305Lys) c.381T>G (p.Asn127Lys) | |
18 | g.31524789T= | CA2293856958 | DSG2 | n.746T= c.746T= c.915T= (p.Asn305=) c.381T= (p.Asn127=) | |
18 | g.31524790T>A | CA402135657 | DSG2 | n.747T>A c.747T>A c.916T>A (p.Trp306Arg) c.382T>A (p.Trp128Arg) | |
18 | g.31524790T>C | CA402135658 | DSG2 | n.747T>C c.747T>C c.916T>C (p.Trp306Arg) c.382T>C (p.Trp128Arg) | ClinVar |
18 | g.31524790T>G | CA402135659 | DSG2 | n.747T>G c.747T>G c.916T>G (p.Trp306Gly) c.382T>G (p.Trp128Gly) | |
18 | g.31524791G>A | CA402135662 | DSG2 | n.748G>A c.748G>A c.917G>A (p.Trp306Ter) c.383G>A (p.Trp128Ter) | ClinVar dbSNP |
18 | g.31524791G>C | CA402135661 | DSG2 | n.748G>C c.748G>C c.917G>C (p.Trp306Ser) c.383G>C (p.Trp128Ser) | |
18 | g.31524791G>T | CA402135660 | DSG2 | n.748G>T c.748G>T c.917G>T (p.Trp306Leu) c.383G>T (p.Trp128Leu) | |
18 | g.31524792G>A | CA022354 | DSG2 | n.749G>A c.749G>A c.918G>A (p.Trp306Ter) c.384G>A (p.Trp128Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.31524792G>C | CA402135663 | DSG2 | n.749G>C c.749G>C c.918G>C (p.Trp306Cys) c.384G>C (p.Trp128Cys) | |
18 | g.31524792G= | CA2293856962 | DSG2 | n.749G= c.749G= c.918G= (p.Trp306=) c.384G= (p.Trp128=) | |
18 | g.31524792G>T | CA402135664 | DSG2 | n.749G>T c.749G>T c.918G>T (p.Trp306Cys) c.384G>T (p.Trp128Cys) | |
18 | g.31524793C>A | CA402135665 | DSG2 | n.750C>A c.750C>A c.919C>A (p.Leu307Met) c.385C>A (p.Leu129Met) | |
18 | g.31524793C= | CA2293856964 | DSG2 | n.750C= c.750C= c.919C= (p.Leu307=) c.385C= (p.Leu129=) | |
18 | g.31524793C>G | CA297732287 | DSG2 | n.750C>G c.750C>G c.919C>G (p.Leu307Val) c.385C>G (p.Leu129Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524793C>T | CA503599283 | DSG2 | n.750C>T c.750C>T c.919C>T (p.Leu307=) c.385C>T (p.Leu129=) | |
18 | g.31524794T>A | CA402135668 | DSG2 | n.751T>A c.751T>A c.920T>A (p.Leu307Gln) c.386T>A (p.Leu129Gln) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524794T>C | CA402135667 | DSG2 | n.751T>C c.751T>C c.920T>C (p.Leu307Pro) c.386T>C (p.Leu129Pro) | |
18 | g.31524794T>G | CA402135666 | DSG2 | n.751T>G c.751T>G c.920T>G (p.Leu307Arg) c.386T>G (p.Leu129Arg) | ClinVar |
18 | g.31524794T= | CA2293856966 | DSG2 | n.751T= c.751T= c.920T= (p.Leu307=) c.386T= (p.Leu129=) | |
18 | g.31524795G>A | CA503599284 | DSG2 | n.752G>A c.752G>A c.921G>A (p.Leu307=) c.387G>A (p.Leu129=) | |
18 | g.31524795G>C | CA503599285 | DSG2 | n.752G>C c.752G>C c.921G>C (p.Leu307=) c.387G>C (p.Leu129=) | |
18 | g.31524795G>T | CA503599286 | DSG2 | n.752G>T c.752G>T c.921G>T (p.Leu307=) c.387G>T (p.Leu129=) | |
18 | g.31524796G>A | CA402135669 | DSG2 | n.753G>A c.753G>A c.922G>A (p.Ala308Thr) c.388G>A (p.Ala130Thr) | gnomAD v4 |
18 | g.31524796G>C | CA402135670 | DSG2 | n.753G>C c.753G>C c.922G>C (p.Ala308Pro) c.388G>C (p.Ala130Pro) | |
18 | g.31524796G>T | CA402135671 | DSG2 | n.753G>T c.753G>T c.922G>T (p.Ala308Ser) c.388G>T (p.Ala130Ser) | |
18 | g.31524797C>A | CA402135672 | DSG2 | n.754C>A c.754C>A c.923C>A (p.Ala308Glu) c.389C>A (p.Ala130Glu) | |
18 | g.31524797C>G | CA402135673 | DSG2 | n.754C>G c.754C>G c.923C>G (p.Ala308Gly) c.389C>G (p.Ala130Gly) | |
18 | g.31524797C>T | CA402135674 | DSG2 | n.754C>T c.754C>T c.923C>T (p.Ala308Val) c.389C>T (p.Ala130Val) | |
18 | g.31524798A>C | CA503599287 | DSG2 | n.755A>C c.755A>C c.924A>C (p.Ala308=) c.390A>C (p.Ala130=) | |
18 | g.31524798A>G | CA503599289 | DSG2 | n.755A>G c.755A>G c.924A>G (p.Ala308=) c.390A>G (p.Ala130=) | |
18 | g.31524798A>T | CA503599291 | DSG2 | n.755A>T c.755A>T c.924A>T (p.Ala308=) c.390A>T (p.Ala130=) | |
18 | g.31524799A>C | CA402135675 | DSG2 | n.756A>C c.756A>C c.925A>C (p.Asn309His) c.391A>C (p.Asn131His) | |
18 | g.31524799A>G | CA402135677 | DSG2 | n.756A>G c.756A>G c.925A>G (p.Asn309Asp) c.391A>G (p.Asn131Asp) | |
18 | g.31524799A>T | CA402135676 | DSG2 | n.756A>T c.756A>T c.925A>T (p.Asn309Tyr) c.391A>T (p.Asn131Tyr) | |
18 | g.31524800A>C | CA402135678 | DSG2 | n.757A>C c.757A>C c.926A>C (p.Asn309Thr) c.392A>C (p.Asn131Thr) | |
18 | g.31524800A>G | CA402135679 | DSG2 | n.757A>G c.757A>G c.926A>G (p.Asn309Ser) c.392A>G (p.Asn131Ser) | |
18 | g.31524800A>T | CA402135680 | DSG2 | n.757A>T c.757A>T c.926A>T (p.Asn309Ile) c.392A>T (p.Asn131Ile) | |
18 | g.31524801T>A | CA402135681 | DSG2 | n.758T>A c.758T>A c.927T>A (p.Asn309Lys) c.393T>A (p.Asn131Lys) | |
18 | g.31524801T>C | CA503599292 | DSG2 | n.758T>C c.758T>C c.927T>C (p.Asn309=) c.393T>C (p.Asn131=) | |
18 | g.31524801T>G | CA402135682 | DSG2 | n.758T>G c.758T>G c.927T>G (p.Asn309Lys) c.393T>G (p.Asn131Lys) | |
18 | g.31524802T>A | CA402135683 | DSG2 | n.759T>A c.759T>A c.928T>A (p.Phe310Ile) c.394T>A (p.Phe132Ile) | |
18 | g.31524802T>C | CA402135684 | DSG2 | n.759T>C c.759T>C c.928T>C (p.Phe310Leu) c.394T>C (p.Phe132Leu) | |
18 | g.31524802T>G | CA402135685 | DSG2 | n.759T>G c.759T>G c.928T>G (p.Phe310Val) c.394T>G (p.Phe132Val) | ClinVar dbSNP COSMIC |
18 | g.31524802T= | CA2293856968 | DSG2 | n.759T= c.759T= c.928T= (p.Phe310=) c.394T= (p.Phe132=) | |
18 | g.31524803T>A | CA402135686 | DSG2 | n.760T>A c.760T>A c.929T>A (p.Phe310Tyr) c.395T>A (p.Phe132Tyr) | |
18 | g.31524803T>C | CA402135687 | DSG2 | n.760T>C c.760T>C c.929T>C (p.Phe310Ser) c.395T>C (p.Phe132Ser) | |
18 | g.31524803T>G | CA402135688 | DSG2 | n.760T>G c.760T>G c.929T>G (p.Phe310Cys) c.395T>G (p.Phe132Cys) | |
18 | g.31524804T>A | CA402135689 | DSG2 | n.761T>A c.761T>A c.930T>A (p.Phe310Leu) c.396T>A (p.Phe132Leu) | |
18 | g.31524804T>C | CA050481 | DSG2 | n.761T>C c.761T>C c.930T>C (p.Phe310=) c.396T>C (p.Phe132=) | dbSNP ExAC gnomAD v2 |
18 | g.31524804T>G | CA402135690 | DSG2 | n.761T>G c.761T>G c.930T>G (p.Phe310Leu) c.396T>G (p.Phe132Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524804T= | CA2293856970 | DSG2 | n.761T= c.761T= c.930T= (p.Phe310=) c.396T= (p.Phe132=) | |
18 | g.31524805A= | CA2293856972 | DSG2 | n.762A= c.762A= c.931A= (p.Thr311=) c.397A= (p.Thr133=) | |
18 | g.31524805A>C | CA402135691 | DSG2 | n.762A>C c.762A>C c.931A>C (p.Thr311Pro) c.397A>C (p.Thr133Pro) | |
18 | g.31524805A>G | CA050491 | DSG2 | n.762A>G c.762A>G c.931A>G (p.Thr311Ala) c.397A>G (p.Thr133Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524805A>T | CA402135692 | DSG2 | n.762A>T c.762A>T c.931A>T (p.Thr311Ser) c.397A>T (p.Thr133Ser) | |
18 | g.31524806C>A | CA402135693 | DSG2 | n.763C>A c.763C>A c.932C>A (p.Thr311Lys) c.398C>A (p.Thr133Lys) | |
18 | g.31524806C>G | CA402135694 | DSG2 | n.763C>G c.763C>G c.932C>G (p.Thr311Arg) c.398C>G (p.Thr133Arg) | |
18 | g.31524806C>T | CA402135695 | DSG2 | n.763C>T c.763C>T c.932C>T (p.Thr311Ile) c.398C>T (p.Thr133Ile) | gnomAD v4 |