| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31531035G>A | CA021262 | DSG2 | n.894G>A c.894G>A c.1063G>A (p.Ala355Thr) c.529G>A (p.Ala177Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31531035G>C | CA402138231 | DSG2 | n.894G>C c.894G>C c.1063G>C (p.Ala355Pro) c.529G>C (p.Ala177Pro) | |
| 18 | g.31531035G= | CA2293859754 | DSG2 | n.894G= c.894G= c.1063G= (p.Ala355=) c.529G= (p.Ala177=) | |
| 18 | g.31531035G>T | CA402138235 | DSG2 | n.894G>T c.894G>T c.1063G>T (p.Ala355Ser) c.529G>T (p.Ala177Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 18 | g.31531036C>A | CA402138240 | DSG2 | n.895C>A c.895C>A c.1064C>A (p.Ala355Asp) c.530C>A (p.Ala177Asp) | |
| 18 | g.31531036C>G | CA402138242 | DSG2 | n.895C>G c.895C>G c.1064C>G (p.Ala355Gly) c.530C>G (p.Ala177Gly) | |
| 18 | g.31531036C>T | CA402138244 | DSG2 | n.895C>T c.895C>T c.1064C>T (p.Ala355Val) c.530C>T (p.Ala177Val) | ClinVar |
| 18 | g.31531037T>A | CA503765727 | DSG2 | n.896T>A c.896T>A c.1065T>A (p.Ala355=) c.531T>A (p.Ala177=) | |
| 18 | g.31531037T>C | CA503765728 | DSG2 | n.896T>C c.896T>C c.1065T>C (p.Ala355=) c.531T>C (p.Ala177=) | |
| 18 | g.31531037T>G | CA503765729 | DSG2 | n.896T>G c.896T>G c.1065T>G (p.Ala355=) c.531T>G (p.Ala177=) | dbSNP |
| 18 | g.31531037T= | CA2293859755 | DSG2 | n.896T= c.896T= c.1065T= (p.Ala355=) c.531T= (p.Ala177=) | |
| 18 | g.31531038A>C | CA402138246 | DSG2 | n.897A>C c.897A>C c.1066A>C (p.Asn356His) c.532A>C (p.Asn178His) | ClinVar |
| 18 | g.31531038A>G | CA402138251 | DSG2 | n.897A>G c.897A>G c.1066A>G (p.Asn356Asp) c.532A>G (p.Asn178Asp) | |
| 18 | g.31531038A>T | CA402138247 | DSG2 | n.897A>T c.897A>T c.1066A>T (p.Asn356Tyr) c.532A>T (p.Asn178Tyr) | |
| 18 | g.31531039A>C | CA402138258 | DSG2 | n.898A>C c.898A>C c.1067A>C (p.Asn356Thr) c.533A>C (p.Asn178Thr) | |
| 18 | g.31531039A>G | CA402138261 | DSG2 | n.898A>G c.898A>G c.1067A>G (p.Asn356Ser) c.533A>G (p.Asn178Ser) | |
| 18 | g.31531039A>T | CA402138264 | DSG2 | n.898A>T c.898A>T c.1067A>T (p.Asn356Ile) c.533A>T (p.Asn178Ile) | |
| 18 | g.31531040T>A | CA402138268 | DSG2 | n.899T>A c.899T>A c.1068T>A (p.Asn356Lys) c.534T>A (p.Asn178Lys) | |
| 18 | g.31531040T>C | CA503765730 | DSG2 | n.899T>C c.899T>C c.1068T>C (p.Asn356=) c.534T>C (p.Asn178=) | |
| 18 | g.31531040T>G | CA402138271 | DSG2 | n.899T>G c.899T>G c.1068T>G (p.Asn356Lys) c.534T>G (p.Asn178Lys) | |
| 18 | g.31531041A>C | CA402138272 | DSG2 | n.900A>C c.900A>C c.1069A>C (p.Lys357Gln) c.535A>C (p.Lys179Gln) | |
| 18 | g.31531041A>G | CA402138273 | DSG2 | n.900A>G c.900A>G c.1069A>G (p.Lys357Glu) c.535A>G (p.Lys179Glu) | |
| 18 | g.31531041A>T | CA402138274 | DSG2 | n.900A>T c.900A>T c.1069A>T (p.Lys357Ter) c.535A>T (p.Lys179Ter) | |
| 18 | g.31531042A>C | CA402138275 | DSG2 | n.901A>C c.901A>C c.1070A>C (p.Lys357Thr) c.536A>C (p.Lys179Thr) | |
| 18 | g.31531042A>G | CA402138276 | DSG2 | n.901A>G c.901A>G c.1070A>G (p.Lys357Arg) c.536A>G (p.Lys179Arg) | |
| 18 | g.31531042A>T | CA402138279 | DSG2 | n.901A>T c.901A>T c.1070A>T (p.Lys357Ile) c.536A>T (p.Lys179Ile) | |
| 18 | g.31531043A>C | CA402138293 | DSG2 | n.902A>C c.902A>C c.1071A>C (p.Lys357Asn) c.537A>C (p.Lys179Asn) | |
| 18 | g.31531043A>G | CA503765731 | DSG2 | n.902A>G c.902A>G c.1071A>G (p.Lys357=) c.537A>G (p.Lys179=) | |
| 18 | g.31531043A>T | CA402138296 | DSG2 | n.902A>T c.902A>T c.1071A>T (p.Lys357Asn) c.537A>T (p.Lys179Asn) | |
| 18 | g.31531044G>A | CA021268 | DSG2 | n.903G>A c.903G>A c.1072G>A (p.Ala358Thr) c.538G>A (p.Ala180Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31531044G>C | CA402138300 | DSG2 | n.903G>C c.903G>C c.1072G>C (p.Ala358Pro) c.538G>C (p.Ala180Pro) | ClinVar dbSNP |
| 18 | g.31531044G= | CA2293859756 | DSG2 | n.903G= c.903G= c.1072G= (p.Ala358=) c.538G= (p.Ala180=) | |
| 18 | g.31531044G>T | CA402138305 | DSG2 | n.903G>T c.903G>T c.1072G>T (p.Ala358Ser) c.538G>T (p.Ala180Ser) | |
| 18 | g.31531045C>A | CA402138309 | DSG2 | n.904C>A c.904C>A c.1073C>A (p.Ala358Glu) c.539C>A (p.Ala180Glu) | |
| 18 | g.31531045C>G | CA402138311 | DSG2 | n.904C>G c.904C>G c.1073C>G (p.Ala358Gly) c.539C>G (p.Ala180Gly) | |
| 18 | g.31531045C>T | CA402138324 | DSG2 | n.904C>T c.904C>T c.1073C>T (p.Ala358Val) c.539C>T (p.Ala180Val) | |
| 18 | g.31531046A= | CA2293859757 | DSG2 | n.905A= c.905A= c.1074A= (p.Ala358=) c.540A= (p.Ala180=) | |
| 18 | g.31531046A>C | CA503765732 | DSG2 | n.905A>C c.905A>C c.1074A>C (p.Ala358=) c.540A>C (p.Ala180=) | |
| 18 | g.31531046A>G | CA503765733 | DSG2 | n.905A>G c.905A>G c.1074A>G (p.Ala358=) c.540A>G (p.Ala180=) | dbSNP |
| 18 | g.31531046A>T | CA503765734 | DSG2 | n.905A>T c.905A>T c.1074A>T (p.Ala358=) c.540A>T (p.Ala180=) | |
| 18 | g.31531047G>A | CA402138327 | DSG2 | n.906G>A c.906G>A c.1075G>A (p.Ala359Thr) c.541G>A (p.Ala181Thr) | |
| 18 | g.31531047G>C | CA402138330 | DSG2 | n.906G>C c.906G>C c.1075G>C (p.Ala359Pro) c.541G>C (p.Ala181Pro) | |
| 18 | g.31531047G>T | CA402138338 | DSG2 | n.906G>T c.906G>T c.1075G>T (p.Ala359Ser) c.541G>T (p.Ala181Ser) | |
| 18 | g.31531048C>A | CA402138341 | DSG2 | n.907C>A c.907C>A c.1076C>A (p.Ala359Asp) c.542C>A (p.Ala181Asp) | gnomAD v4 |
| 18 | g.31531048C>G | CA402138343 | DSG2 | n.907C>G c.907C>G c.1076C>G (p.Ala359Gly) c.542C>G (p.Ala181Gly) | |
| 18 | g.31531048C>T | CA402138349 | DSG2 | n.907C>T c.907C>T c.1076C>T (p.Ala359Val) c.542C>T (p.Ala181Val) | |
| 18 | g.31531049T>A | CA503765735 | DSG2 | n.908T>A c.908T>A c.1077T>A (p.Ala359=) c.543T>A (p.Ala181=) | |
| 18 | g.31531049T>C | CA503765736 | DSG2 | n.908T>C c.908T>C c.1077T>C (p.Ala359=) c.543T>C (p.Ala181=) | |
| 18 | g.31531049T>G | CA503765737 | DSG2 | n.908T>G c.908T>G c.1077T>G (p.Ala359=) c.543T>G (p.Ala181=) | |
| 18 | g.31531050T>A | CA402138353 | DSG2 | n.909T>A c.909T>A c.1078T>A (p.Phe360Ile) c.544T>A (p.Phe182Ile) |