| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31524554A= | CA2293857047 | DSG2 | n.628A= c.628A= c.797A= (p.Asn266=) c.263A= (p.Asn88=) | |
| 18 | g.31524554A>C | CA402135203 | DSG2 | n.628A>C c.628A>C c.797A>C (p.Asn266Thr) c.263A>C (p.Asn88Thr) | |
| 18 | g.31524554A>G | CA022263 | DSG2 | n.628A>G c.628A>G c.797A>G (p.Asn266Ser) c.263A>G (p.Asn88Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31524554A>T | CA402135204 | DSG2 | n.628A>T c.628A>T c.797A>T (p.Asn266Ile) c.263A>T (p.Asn88Ile) | gnomAD v4 |
| 18 | g.31524555T>A | CA402135206 | DSG2 | n.629T>A c.629T>A c.798T>A (p.Asn266Lys) c.264T>A (p.Asn88Lys) | |
| 18 | g.31524555T>C | CA503599170 | DSG2 | n.629T>C c.629T>C c.798T>C (p.Asn266=) c.264T>C (p.Asn88=) | ClinVar dbSNP |
| 18 | g.31524555T>G | CA402135208 | DSG2 | n.629T>G c.629T>G c.798T>G (p.Asn266Lys) c.264T>G (p.Asn88Lys) | |
| 18 | g.31524555T= | CA2293857049 | DSG2 | n.629T= c.629T= c.798T= (p.Asn266=) c.264T= (p.Asn88=) | |
| 18 | g.31524556G>A | CA402135210 | DSG2 | n.630G>A c.630G>A c.799G>A (p.Asp267Asn) c.265G>A (p.Asp89Asn) | |
| 18 | g.31524556G>C | CA402135212 | DSG2 | n.630G>C c.630G>C c.799G>C (p.Asp267His) c.265G>C (p.Asp89His) | |
| 18 | g.31524556G>T | CA402135213 | DSG2 | n.630G>T c.630G>T c.799G>T (p.Asp267Tyr) c.265G>T (p.Asp89Tyr) | |
| 18 | g.31524557A>C | CA402135216 | DSG2 | n.631A>C c.631A>C c.800A>C (p.Asp267Ala) c.266A>C (p.Asp89Ala) | |
| 18 | g.31524557A>G | CA402135215 | DSG2 | n.631A>G c.631A>G c.800A>G (p.Asp267Gly) c.266A>G (p.Asp89Gly) | ClinVar |
| 18 | g.31524557A>T | CA402135214 | DSG2 | n.631A>T c.631A>T c.800A>T (p.Asp267Val) c.266A>T (p.Asp89Val) | |
| 18 | g.31524558C>A | CA402135218 | DSG2 | n.632C>A c.632C>A c.801C>A (p.Asp267Glu) c.267C>A (p.Asp89Glu) | |
| 18 | g.31524558C>G | CA402135219 | DSG2 | n.632C>G c.632C>G c.801C>G (p.Asp267Glu) c.267C>G (p.Asp89Glu) | |
| 18 | g.31524558C>T | CA503599171 | DSG2 | n.632C>T c.632C>T c.801C>T (p.Asp267=) c.267C>T (p.Asp89=) | gnomAD v4 |
| 18 | g.31524559A= | CA2293857051 | DSG2 | n.633A= c.633A= c.802A= (p.Asn268=) c.268A= (p.Asn90=) | |
| 18 | g.31524559A>C | CA402135221 | DSG2 | n.633A>C c.633A>C c.802A>C (p.Asn268His) c.268A>C (p.Asn90His) | gnomAD v4 |
| 18 | g.31524559A>G | CA402135223 | DSG2 | n.633A>G c.633A>G c.802A>G (p.Asn268Asp) c.268A>G (p.Asn90Asp) | gnomAD v4 |
| 18 | g.31524559A>T | CA402135224 | DSG2 | n.633A>T c.633A>T c.802A>T (p.Asn268Tyr) c.268A>T (p.Asn90Tyr) | |
| 18 | g.31524560A= | CA2293857055 | DSG2 | n.634A= c.634A= c.803A= (p.Asn268=) c.269A= (p.Asn90=) | |
| 18 | g.31524560A>C | CA402135226 | DSG2 | n.634A>C c.634A>C c.803A>C (p.Asn268Thr) c.269A>C (p.Asn90Thr) | |
| 18 | g.31524560A>G | CA402135227 | DSG2 | n.634A>G c.634A>G c.803A>G (p.Asn268Ser) c.269A>G (p.Asn90Ser) | |
| 18 | g.31524560A>T | CA297731937 | DSG2 | n.634A>T c.634A>T c.803A>T (p.Asn268Ile) c.269A>T (p.Asn90Ile) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31524560_31524567dup | CA1139666005 | DSG2 | n.634_641dup c.634_641dup c.803_810dup (p.Val271IlefsTer4) c.269_276dup (p.Val93IlefsTer4) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31524561T>A | CA402135230 | DSG2 | n.635T>A c.635T>A c.804T>A (p.Asn268Lys) c.270T>A (p.Asn90Lys) | |
| 18 | g.31524561T>C | CA503599172 | DSG2 | n.635T>C c.635T>C c.804T>C (p.Asn268=) c.270T>C (p.Asn90=) | |
| 18 | g.31524561T>G | CA402135232 | DSG2 | n.635T>G c.635T>G c.804T>G (p.Asn268Lys) c.270T>G (p.Asn90Lys) | |
| 18 | g.31524562A>C | CA402135233 | DSG2 | n.636A>C c.636A>C c.805A>C (p.Ile269Leu) c.271A>C (p.Ile91Leu) | |
| 18 | g.31524562A>G | CA402135234 | DSG2 | n.636A>G c.636A>G c.805A>G (p.Ile269Val) c.271A>G (p.Ile91Val) | |
| 18 | g.31524562A>T | CA402135236 | DSG2 | n.636A>T c.636A>T c.805A>T (p.Ile269Leu) c.271A>T (p.Ile91Leu) | |
| 18 | g.31524563T>A | CA402135238 | DSG2 | n.637T>A c.637T>A c.806T>A (p.Ile269Lys) c.272T>A (p.Ile91Lys) | |
| 18 | g.31524563T>C | CA022269 | DSG2 | n.637T>C c.637T>C c.806T>C (p.Ile269Thr) c.272T>C (p.Ile91Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31524563T>G | CA402135239 | DSG2 | n.637T>G c.637T>G c.806T>G (p.Ile269Arg) c.272T>G (p.Ile91Arg) | |
| 18 | g.31524563T= | CA2293857061 | DSG2 | n.637T= c.637T= c.806T= (p.Ile269=) c.272T= (p.Ile91=) | |
| 18 | g.31524564A>C | CA503599173 | DSG2 | n.638A>C c.638A>C c.807A>C (p.Ile269=) c.273A>C (p.Ile91=) | |
| 18 | g.31524564A>G | CA402135241 | DSG2 | n.638A>G c.638A>G c.807A>G (p.Ile269Met) c.273A>G (p.Ile91Met) | |
| 18 | g.31524564A>T | CA503599174 | DSG2 | n.638A>T c.638A>T c.807A>T (p.Ile269=) c.273A>T (p.Ile91=) | |
| 18 | g.31524565C>A | CA402135243 | DSG2 | n.639C>A c.639C>A c.808C>A (p.Pro270Thr) c.274C>A (p.Pro92Thr) | ClinVar gnomAD v4 |
| 18 | g.31524565C= | CA2293857065 | DSG2 | n.639C= c.639C= c.808C= (p.Pro270=) c.274C= (p.Pro92=) | |
| 18 | g.31524565C>G | CA402135245 | DSG2 | n.639C>G c.639C>G c.808C>G (p.Pro270Ala) c.274C>G (p.Pro92Ala) | |
| 18 | g.31524565C>T | CA402135246 | DSG2 | n.639C>T c.639C>T c.808C>T (p.Pro270Ser) c.274C>T (p.Pro92Ser) | dbSNP gnomAD v2 |
| 18 | g.31524566C>A | CA402135249 | DSG2 | n.640C>A c.640C>A c.809C>A (p.Pro270His) c.275C>A (p.Pro92His) | |
| 18 | g.31524566C>G | CA402135250 | DSG2 | n.640C>G c.640C>G c.809C>G (p.Pro270Arg) c.275C>G (p.Pro92Arg) | |
| 18 | g.31524566C>T | CA402135252 | DSG2 | n.640C>T c.640C>T c.809C>T (p.Pro270Leu) c.275C>T (p.Pro92Leu) | |
| 18 | g.31524567T>A | CA503599175 | DSG2 | n.641T>A c.641T>A c.810T>A (p.Pro270=) c.276T>A (p.Pro92=) | |
| 18 | g.31524567T>C | CA503599176 | DSG2 | n.641T>C c.641T>C c.810T>C (p.Pro270=) c.276T>C (p.Pro92=) | |
| 18 | g.31524567T>G | CA503599177 | DSG2 | n.641T>G c.641T>G c.810T>G (p.Pro270=) c.276T>G (p.Pro92=) | |
| 18 | g.31524568G>A | CA402135254 | DSG2 | n.642G>A c.642G>A c.811G>A (p.Val271Ile) c.277G>A (p.Val93Ile) | gnomAD v4 |