Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31524551T>A | CA297731928 | DSG2 | n.625T>A c.625T>A c.794T>A (p.Val265Asp) c.260T>A (p.Val87Asp) | ClinVar dbSNP |
18 | g.31524551T>C | CA402135195 | DSG2 | n.625T>C c.625T>C c.794T>C (p.Val265Ala) c.260T>C (p.Val87Ala) | |
18 | g.31524551T>G | CA402135193 | DSG2 | n.625T>G c.625T>G c.794T>G (p.Val265Gly) c.260T>G (p.Val87Gly) | |
18 | g.31524551T= | CA2293857042 | DSG2 | n.625T= c.625T= c.794T= (p.Val265=) c.260T= (p.Val87=) | |
18 | g.31524552C>A | CA503599166 | DSG2 | n.626C>A c.626C>A c.795C>A (p.Val265=) c.261C>A (p.Val87=) | |
18 | g.31524552C= | CA2293857044 | DSG2 | n.626C= c.626C= c.795C= (p.Val265=) c.261C= (p.Val87=) | |
18 | g.31524552C>G | CA049923 | DSG2 | n.626C>G c.626C>G c.795C>G (p.Val265=) c.261C>G (p.Val87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524552C>T | CA503599169 | DSG2 | n.626C>T c.626C>T c.795C>T (p.Val265=) c.261C>T (p.Val87=) | |
18 | g.31524553A>C | CA402135198 | DSG2 | n.627A>C c.627A>C c.796A>C (p.Asn266His) c.262A>C (p.Asn88His) | |
18 | g.31524553A>G | CA402135200 | DSG2 | n.627A>G c.627A>G c.796A>G (p.Asn266Asp) c.262A>G (p.Asn88Asp) | |
18 | g.31524553A>T | CA402135201 | DSG2 | n.627A>T c.627A>T c.796A>T (p.Asn266Tyr) c.262A>T (p.Asn88Tyr) | |
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 |
18 | g.31524568G>C | CA402135255 | DSG2 | n.642G>C c.642G>C c.811G>C (p.Val271Leu) c.277G>C (p.Val93Leu) | |
18 | g.31524568G= | CA2293857086 | DSG2 | n.642G= c.642G= c.811G= (p.Val271=) c.277G= (p.Val93=) | |
18 | g.31524568G>T | CA402135257 | DSG2 | n.642G>T c.642G>T c.811G>T (p.Val271Leu) c.277G>T (p.Val93Leu) | |
18 | g.31524569T>A | CA402135262 | DSG2 | n.643T>A c.643T>A c.812T>A (p.Val271Glu) c.278T>A (p.Val93Glu) | gnomAD v4 |
18 | g.31524569T>C | CA402135261 | DSG2 | n.643T>C c.643T>C c.812T>C (p.Val271Ala) c.278T>C (p.Val93Ala) | |
18 | g.31524569T>G | CA402135259 | DSG2 | n.643T>G c.643T>G c.812T>G (p.Val271Gly) c.278T>G (p.Val93Gly) | |
18 | g.31524569T= | CA2293857089 | DSG2 | n.643T= c.643T= c.812T= (p.Val271=) c.278T= (p.Val93=) | |
18 | g.31524569_31524570insCAT | CA2293857092 | DSG2 | n.643_644insCAT c.643_644insCAT c.812_813insCAT (p.Val271_Val272insIle) c.278_279insCAT (p.Val93_Val94insIle) | ClinVar dbSNP |
18 | g.31524569_31524570delinsTA | CA2293857090 | DSG2 | n.643_644delinsTA c.643_644delinsTA c.812_813delinsTA (p.Val271=) c.278_279delinsTA (p.Val93=) | |
18 | g.31524569_31524570insC | CA050007 | DSG2 | n.643_644insC c.643_644insC c.812_813insC (p.Val272SerfsTer4) c.278_279insC (p.Val94SerfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524570A= | CA2293857105 | DSG2 | n.644A= c.644A= c.813A= (p.Val271=) c.279A= (p.Val93=) | |
18 | g.31524570A>C | CA503599179 | DSG2 | n.644A>C c.644A>C c.813A>C (p.Val271=) c.279A>C (p.Val93=) | |
18 | g.31524570A>G | CA050019 | DSG2 | n.644A>G c.644A>G c.813A>G (p.Val271=) c.279A>G (p.Val93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524570A>T | CA503599178 | DSG2 | n.644A>T c.644A>T c.813A>T (p.Val271=) c.279A>T (p.Val93=) | ClinVar dbSNP |
18 | g.31524570delinsCATT | CA1139666006 | DSG2 | n.644delinsCATT c.644delinsCATT c.813delinsCATT (p.Val271_Val272insIle) c.279delinsCATT (p.Val93_Val94insIle) | ClinVar dbSNP |
18 | g.31524570_31524571insTT | CA8928345 | DSG2 | n.644_645insTT c.644_645insTT c.813_814insTT (p.Val272LeufsTer2) c.279_280insTT (p.Val94LeufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524570_31524571insTTG | CA629148134 | DSG2 | n.644_645insTTG c.644_645insTTG c.813_814insTTG (p.Val271_Val272insLeu) c.279_280insTTG (p.Val93_Val94insLeu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524571G>A | CA402135268 | DSG2 | n.645G>A c.645G>A c.814G>A (p.Val272Ile) c.280G>A (p.Val94Ile) | |
18 | g.31524571G>C | CA402135270 | DSG2 | n.645G>C c.645G>C c.814G>C (p.Val272Leu) c.280G>C (p.Val94Leu) | |
18 | g.31524571G>T | CA402135266 | DSG2 | n.645G>T c.645G>T c.814G>T (p.Val272Leu) c.280G>T (p.Val94Leu) | |
18 | g.31524572T>A | CA402135272 | DSG2 | n.646T>A c.646T>A c.815T>A (p.Val272Glu) c.281T>A (p.Val94Glu) | |
18 | g.31524572T>C | CA402135273 | DSG2 | n.646T>C c.646T>C c.815T>C (p.Val272Ala) c.281T>C (p.Val94Ala) | |
18 | g.31524572T>G | CA402135275 | DSG2 | n.646T>G c.646T>G c.815T>G (p.Val272Gly) c.281T>G (p.Val94Gly) | |
18 | g.31524573A= | CA2293857117 | DSG2 | n.647A= c.647A= c.816A= (p.Val272=) c.282A= (p.Val94=) | |
18 | g.31524573A>C | CA503599180 | DSG2 | n.647A>C c.647A>C c.816A>C (p.Val272=) c.282A>C (p.Val94=) | |
18 | g.31524573A>G | CA503599181 | DSG2 | n.647A>G c.647A>G c.816A>G (p.Val272=) c.282A>G (p.Val94=) | ClinVar |
18 | g.31524573A>T | CA503599182 | DSG2 | n.647A>T c.647A>T c.816A>T (p.Val272=) c.282A>T (p.Val94=) | |
18 | g.31524573_31524574insTATTG | CA629148135 | DSG2 | n.647_648insTATTG c.647_648insTATTG c.816_817insTATTG (p.Glu273TyrfsTer18) c.282_283insTATTG (p.Glu95TyrfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524574G>A | CA402135277 | DSG2 | n.648G>A c.648G>A c.817G>A (p.Glu273Lys) c.283G>A (p.Glu95Lys) | |
18 | g.31524574G>C | CA402135278 | DSG2 | n.648G>C c.648G>C c.817G>C (p.Glu273Gln) c.283G>C (p.Glu95Gln) | |
18 | g.31524574G>T | CA402135280 | DSG2 | n.648G>T c.648G>T c.817G>T (p.Glu273Ter) c.283G>T (p.Glu95Ter) | |
18 | g.31524574_31524576delinsGAA | CA2293857122 | DSG2 | n.648_650delinsGAA c.648_650delinsGAA c.817_819delinsGAA (p.Glu273=) c.283_285delinsGAA (p.Glu95=) | |
18 | g.31524575A= | CA2293857127 | DSG2 | n.649A= c.649A= c.818A= (p.Glu273=) c.284A= (p.Glu95=) | |
18 | g.31524575A>C | CA402135282 | DSG2 | n.649A>C c.649A>C c.818A>C (p.Glu273Ala) c.284A>C (p.Glu95Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524575A>G | CA402135284 | DSG2 | n.649A>G c.649A>G c.818A>G (p.Glu273Gly) c.284A>G (p.Glu95Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524575A>T | CA402135285 | DSG2 | n.649A>T c.649A>T c.818A>T (p.Glu273Val) c.284A>T (p.Glu95Val) | |
18 | g.31524577_31524578del | CA629148136 | DSG2 | n.651_652del c.651_652del c.820_821del (p.Asn274Ter) c.286_287del (p.Asn96Ter) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524576A>C | CA402135286 | DSG2 | n.650A>C c.650A>C c.819A>C (p.Glu273Asp) c.285A>C (p.Glu95Asp) | |
18 | g.31524576A>G | CA503599183 | DSG2 | n.650A>G c.650A>G c.819A>G (p.Glu273=) c.285A>G (p.Glu95=) | |
18 | g.31524576A>T | CA402135288 | DSG2 | n.650A>T c.650A>T c.819A>T (p.Glu273Asp) c.285A>T (p.Glu95Asp) | |
18 | g.31524577A= | CA2293857130 | DSG2 | n.651A= c.651A= c.820A= (p.Asn274=) c.286A= (p.Asn96=) | |
18 | g.31524577A>C | CA402135291 | DSG2 | n.651A>C c.651A>C c.820A>C (p.Asn274His) c.286A>C (p.Asn96His) | |
18 | g.31524577A>G | CA050064 | DSG2 | n.651A>G c.651A>G c.820A>G (p.Asn274Asp) c.286A>G (p.Asn96Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524577A>T | CA402135289 | DSG2 | n.651A>T c.651A>T c.820A>T (p.Asn274Tyr) c.286A>T (p.Asn96Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524578A>C | CA402135292 | DSG2 | n.652A>C c.652A>C c.821A>C (p.Asn274Thr) c.287A>C (p.Asn96Thr) | |
18 | g.31524578A>G | CA402135293 | DSG2 | n.652A>G c.652A>G c.821A>G (p.Asn274Ser) c.287A>G (p.Asn96Ser) | |
18 | g.31524578A>T | CA402135295 | DSG2 | n.652A>T c.652A>T c.821A>T (p.Asn274Ile) c.287A>T (p.Asn96Ile) | |
18 | g.31524579T>A | CA402135297 | DSG2 | n.653T>A c.653T>A c.822T>A (p.Asn274Lys) c.288T>A (p.Asn96Lys) | |
18 | g.31524579T>C | CA503599184 | DSG2 | n.653T>C c.653T>C c.822T>C (p.Asn274=) c.288T>C (p.Asn96=) | |
18 | g.31524579T>G | CA402135299 | DSG2 | n.653T>G c.653T>G c.822T>G (p.Asn274Lys) c.288T>G (p.Asn96Lys) | |
18 | g.31524580A>C | CA402135300 | DSG2 | n.654A>C c.654A>C c.823A>C (p.Lys275Gln) c.289A>C (p.Lys97Gln) | COSMIC |
18 | g.31524580A>G | CA402135302 | DSG2 | n.654A>G c.654A>G c.823A>G (p.Lys275Glu) c.289A>G (p.Lys97Glu) | gnomAD v4 |
18 | g.31524580A>T | CA402135304 | DSG2 | n.654A>T c.654A>T c.823A>T (p.Lys275Ter) c.289A>T (p.Lys97Ter) | |
18 | g.31524581A>C | CA402135306 | DSG2 | n.655A>C c.655A>C c.824A>C (p.Lys275Thr) c.290A>C (p.Lys97Thr) | |
18 | g.31524581A>G | CA402135307 | DSG2 | n.655A>G c.655A>G c.824A>G (p.Lys275Arg) c.290A>G (p.Lys97Arg) | |
18 | g.31524581A>T | CA402135309 | DSG2 | n.655A>T c.655A>T c.824A>T (p.Lys275Ile) c.290A>T (p.Lys97Ile) | |
18 | g.31524582A>C | CA402135312 | DSG2 | n.656A>C c.656A>C c.825A>C (p.Lys275Asn) c.291A>C (p.Lys97Asn) | |
18 | g.31524582A>G | CA503599185 | DSG2 | n.656A>G c.656A>G c.825A>G (p.Lys275=) c.291A>G (p.Lys97=) | gnomAD v4 |
18 | g.31524582A>T | CA402135311 | DSG2 | n.656A>T c.656A>T c.825A>T (p.Lys275Asn) c.291A>T (p.Lys97Asn) | |
18 | g.31524582_31524585delinsAGTG | CA2293857133 | DSG2 | n.656_659delinsAGTG c.656_659delinsAGTG c.825_828delinsAGTG (p.Lys275=) c.291_294delinsAGTG (p.Lys97=) | |
18 | g.31524583G>A | CA402135313 | DSG2 | n.657G>A c.657G>A c.826G>A (p.Val276Met) c.292G>A (p.Val98Met) | |
18 | g.31524583G>C | CA402135315 | DSG2 | n.657G>C c.657G>C c.826G>C (p.Val276Leu) c.292G>C (p.Val98Leu) | |
18 | g.31524583G>T | CA402135316 | DSG2 | n.657G>T c.657G>T c.826G>T (p.Val276Leu) c.292G>T (p.Val98Leu) | |
18 | g.31524585_31524587del | CA050140 | DSG2 | n.659_659+2del c.659_659+2del c.828_828+2del c.294_294+2del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524584T>A | CA402135320 | DSG2 | n.658T>A c.658T>A c.827T>A (p.Val276Glu) c.293T>A (p.Val98Glu) | |
18 | g.31524584T>C | CA402135321 | DSG2 | n.658T>C c.658T>C c.827T>C (p.Val276Ala) c.293T>C (p.Val98Ala) | |
18 | g.31524584T>G | CA402135322 | DSG2 | n.658T>G c.658T>G c.827T>G (p.Val276Gly) c.293T>G (p.Val98Gly) | |
18 | g.31524585G>A | CA503599186 | DSG2 | n.659G>A c.659G>A c.828G>A (p.Val276=) c.294G>A (p.Val98=) | |
18 | g.31524585G>C | CA503599187 | DSG2 | n.659G>C c.659G>C c.828G>C (p.Val276=) c.294G>C (p.Val98=) | |
18 | g.31524585G>T | CA503599188 | DSG2 | n.659G>T c.659G>T c.828G>T (p.Val276=) c.294G>T (p.Val98=) | |
18 | g.31524586G>A | CA402135324 | DSG2 | n.659+1G>A c.659+1G>A c.828+1G>A (n.828+1G>A) c.294+1G>A (n.294+1G>A) | |
18 | g.31524586G>C | CA402135326 | DSG2 | n.659+1G>C c.659+1G>C c.828+1G>C (n.828+1G>C) c.294+1G>C (n.294+1G>C) | |
18 | g.31524586G>T | CA402135328 | DSG2 | n.659+1G>T c.659+1G>T c.828+1G>T (n.828+1G>T) c.294+1G>T (n.294+1G>T) | |
18 | g.31524587T>A | CA402135329 | DSG2 | n.659+2T>A c.659+2T>A c.828+2T>A (n.828+2T>A) c.294+2T>A (n.294+2T>A) | |
18 | g.31524587T>C | CA402135331 | DSG2 | n.659+2T>C c.659+2T>C c.828+2T>C (n.828+2T>C) c.294+2T>C (n.294+2T>C) | |
18 | g.31524587T>G | CA402135333 | DSG2 | n.659+2T>G c.659+2T>G c.828+2T>G (n.828+2T>G) c.294+2T>G (n.294+2T>G) | |
18 | g.31524590C= | CA2293857140 | DSG2 | n.659+5C= c.659+5C= c.828+5C= (n.828+5C=) c.294+5C= (n.294+5C=) | |
18 | g.31524590C>T | CA050171 | DSG2 | n.659+5C>T c.659+5C>T c.828+5C>T (n.828+5C>T) c.294+5C>T (n.294+5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524590_31524593delinsCTAT | CA2293857142 | DSG2 | n.659+5_659+8delinsCTAT c.659+5_659+8delinsCTAT c.828+5_828+8delinsCTAT (n.828+5_828+8delinsCTAT) c.294+5_294+8delinsCTAT (n.294+5_294+8delinsCTAT) | |
18 | g.31524595_31524597del | CA629148137 | DSG2 | n.659+10_659+12del c.659+10_659+12del c.828+10_828+12del (n.828+10_828+12del) c.294+10_294+12del (n.294+10_294+12del) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524592A= | CA2293857146 | DSG2 | n.659+7A= c.659+7A= c.828+7A= (n.828+7A=) c.294+7A= (n.294+7A=) | |
18 | g.31524592A>G | CA629148138 | DSG2 | n.659+7A>G c.659+7A>G c.828+7A>G (n.828+7A>G) c.294+7A>G (n.294+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524593T>C | CA2641406211 | DSG2 | n.659+8T>C c.659+8T>C c.828+8T>C (n.828+8T>C) c.294+8T>C (n.294+8T>C) | gnomAD v4 |
18 | g.31524593_31524594insACC | CA2576480507 | DSG2 | n.659+8_659+9insACC c.659+8_659+9insACC c.828+8_828+9insACC (n.828+8_828+9insACC) c.294+8_294+9insACC (n.294+8_294+9insACC) | |
18 | g.31524595A= | CA2293857152 | DSG2 | n.659+10A= c.659+10A= c.828+10A= (n.828+10A=) c.294+10A= (n.294+10A=) | |
18 | g.31524595A>C | CA10641361 | DSG2 | n.659+10A>C c.659+10A>C c.828+10A>C (n.828+10A>C) c.294+10A>C (n.294+10A>C) | ClinVar dbSNP |
18 | g.31524595A>G | CA2576480508 | DSG2 | n.659+10A>G c.659+10A>G c.828+10A>G (n.828+10A>G) c.294+10A>G (n.294+10A>G) | |
18 | g.31524595_31524601delinsATTCTTC | CA2293857150 | DSG2 | n.659+10_659+16delinsATTCTTC c.659+10_659+16delinsATTCTTC c.828+10_828+16delinsATTCTTC (n.828+10_828+16delinsATTCTTC) c.294+10_294+16delinsATTCTTC (n.294+10_294+16delinsATTCTTC) | |
18 | g.31524596T>C | CA050148 | DSG2 | n.659+11T>C c.659+11T>C c.828+11T>C (n.828+11T>C) c.294+11T>C (n.294+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524596T>G | CA2641406212 | DSG2 | n.659+11T>G c.659+11T>G c.828+11T>G (n.828+11T>G) c.294+11T>G (n.294+11T>G) | gnomAD v4 |
18 | g.31524596T= | CA2293857154 | DSG2 | n.659+11T= c.659+11T= c.828+11T= (n.828+11T=) c.294+11T= (n.294+11T=) | |
18 | g.31524597dup | CA2576480509 | DSG2 | n.659+12dup c.659+12dup c.828+12dup (n.828+12dup) c.294+12dup (n.294+12dup) | |
18 | g.31524597_31524602del | CA778437048 | DSG2 | n.659+12_659+17del c.659+12_659+17del c.828+12_828+17del (n.828+12_828+17del) c.294+12_294+17del (n.294+12_294+17del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524597T>C | CA2641406213 | DSG2 | n.659+12T>C c.659+12T>C c.828+12T>C (n.828+12T>C) c.294+12T>C (n.294+12T>C) | gnomAD v4 |
18 | g.31524598C>A | CA297731970 | DSG2 | n.659+13C>A c.659+13C>A c.828+13C>A (n.828+13C>A) c.294+13C>A (n.294+13C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524598C= | CA2293857159 | DSG2 | n.659+13C= c.659+13C= c.828+13C= (n.828+13C=) c.294+13C= (n.294+13C=) | |
18 | g.31524598C>T | CA16607923 | DSG2 | n.659+13C>T c.659+13C>T c.828+13C>T (n.828+13C>T) c.294+13C>T (n.294+13C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524599T>A | CA2293857163 | DSG2 | n.659+14T>A c.659+14T>A c.828+14T>A (n.828+14T>A) c.294+14T>A (n.294+14T>A) | dbSNP |
18 | g.31524599T>C | CA2293857164 | DSG2 | n.659+14T>C c.659+14T>C c.828+14T>C (n.828+14T>C) c.294+14T>C (n.294+14T>C) | ClinVar dbSNP |
18 | g.31524599T= | CA2293857162 | DSG2 | n.659+14T= c.659+14T= c.828+14T= (n.828+14T=) c.294+14T= (n.294+14T=) | |
18 | g.31524601C>A | CA050154 | DSG2 | n.659+16C>A c.659+16C>A c.828+16C>A (n.828+16C>A) c.294+16C>A (n.294+16C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524601C= | CA2293857167 | DSG2 | n.659+16C= c.659+16C= c.828+16C= (n.828+16C=) c.294+16C= (n.294+16C=) | |
18 | g.31524601C>G | CA2576480510 | DSG2 | n.659+16C>G c.659+16C>G c.828+16C>G (n.828+16C>G) c.294+16C>G (n.294+16C>G) | ClinVar |
18 | g.31524601C>T | CA2581341668 | DSG2 | n.659+16C>T c.659+16C>T c.828+16C>T (n.828+16C>T) c.294+16C>T (n.294+16C>T) | gnomAD v4 |
18 | g.31524601_31524604delinsCTAA | CA2293857170 | DSG2 | n.659+16_659+19delinsCTAA c.659+16_659+19delinsCTAA c.828+16_828+19delinsCTAA (n.828+16_828+19delinsCTAA) c.294+16_294+19delinsCTAA (n.294+16_294+19delinsCTAA) | |
18 | g.31524605_31524607del | CA629148139 | DSG2 | n.659+20_659+22del c.659+20_659+22del c.828+20_828+22del (n.828+20_828+22del) c.294+20_294+22del (n.294+20_294+22del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524603A>G | CA2812000634 | DSG2 | n.659+18A>G c.659+18A>G c.828+18A>G (n.828+18A>G) c.294+18A>G (n.294+18A>G) | |
18 | g.31524604A>C | CA2641406215 | DSG2 | n.659+19A>C c.659+19A>C c.828+19A>C (n.828+19A>C) c.294+19A>C (n.294+19A>C) | gnomAD v4 |
18 | g.31524605_31524606del | CA2641406214 | DSG2 | n.659+20_659+21del c.659+20_659+21del c.828+20_828+21del (n.828+20_828+21del) c.294+20_294+21del (n.294+20_294+21del) | ClinVar gnomAD v4 |
18 | g.31524607A>C | CA2576480511 | DSG2 | n.659+22A>C c.659+22A>C c.828+22A>C (n.828+22A>C) c.294+22A>C (n.294+22A>C) | |
18 | g.31524609T>C | CA2293857174 | DSG2 | n.659+24T>C c.659+24T>C c.828+24T>C (n.828+24T>C) c.294+24T>C (n.294+24T>C) | dbSNP gnomAD v4 |
18 | g.31524609T= | CA2293857175 | DSG2 | n.659+24T= c.659+24T= c.828+24T= (n.828+24T=) c.294+24T= (n.294+24T=) | |
18 | g.31524610G>C | CA2641406216 | DSG2 | n.659+25G>C c.659+25G>C c.828+25G>C (n.828+25G>C) c.294+25G>C (n.294+25G>C) | gnomAD v4 |
18 | g.31524610_31524614delinsGTACC | CA2293857177 | DSG2 | n.659+25_659+29delinsGTACC c.659+25_659+29delinsGTACC c.828+25_828+29delinsGTACC (n.828+25_828+29delinsGTACC) c.294+25_294+29delinsGTACC (n.294+25_294+29delinsGTACC) | |
18 | g.31524611T>G | CA629148140 | DSG2 | n.659+26T>G c.659+26T>G c.828+26T>G (n.828+26T>G) c.294+26T>G (n.294+26T>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524611T= | CA2293857180 | DSG2 | n.659+26T= c.659+26T= c.828+26T= (n.828+26T=) c.294+26T= (n.294+26T=) | |
18 | g.31524613_31524616del | CA2293857181 | DSG2 | n.659+28_659+31del c.659+28_659+31del c.828+28_828+31del (n.828+28_828+31del) c.294+28_294+31del (n.294+28_294+31del) | dbSNP |
18 | g.31524614C>T | CA629148141 | DSG2 | n.659+29C>T c.659+29C>T c.828+29C>T (n.828+29C>T) c.294+29C>T (n.294+29C>T) | gnomAD v2 |
18 | g.31524614_31524618delinsCTATT | CA2293857183 | DSG2 | n.659+29_659+33delinsCTATT c.659+29_659+33delinsCTATT c.828+29_828+33delinsCTATT (n.828+29_828+33delinsCTATT) c.294+29_294+33delinsCTATT (n.294+29_294+33delinsCTATT) | |
18 | g.31524622_31524625del | CA629148142 | DSG2 | n.659+37_659+40del c.659+37_659+40del c.828+37_828+40del (n.828+37_828+40del) c.294+37_294+40del (n.294+37_294+40del) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524616A= | CA2293857185 | DSG2 | n.659+31A= c.659+31A= c.828+31A= (n.828+31A=) c.294+31A= (n.294+31A=) | |
18 | g.31524616A>G | CA629148143 | DSG2 | n.659+31A>G c.659+31A>G c.828+31A>G (n.828+31A>G) c.294+31A>G (n.294+31A>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524617T>C | CA629148144 | DSG2 | n.659+32T>C c.659+32T>C c.828+32T>C (n.828+32T>C) c.294+32T>C (n.294+32T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524617T= | CA2293857187 | DSG2 | n.659+32T= c.659+32T= c.828+32T= (n.828+32T=) c.294+32T= (n.294+32T=) | |
18 | g.31524623T>C | CA2641406217 | DSG2 | n.659+38T>C c.659+38T>C c.828+38T>C (n.828+38T>C) c.294+38T>C (n.294+38T>C) | gnomAD v4 |
18 | g.31524626A= | CA2293857188 | DSG2 | n.659+41A= c.659+41A= c.828+41A= (n.828+41A=) c.294+41A= (n.294+41A=) | |
18 | g.31524626A>G | CA2293857189 | DSG2 | n.659+41A>G c.659+41A>G c.828+41A>G (n.828+41A>G) c.294+41A>G (n.294+41A>G) | dbSNP gnomAD v4 |
18 | g.31524628T>C | CA2576480512 | DSG2 | n.659+43T>C c.659+43T>C c.828+43T>C (n.828+43T>C) c.294+43T>C (n.294+43T>C) | |
18 | g.31524630C>T | CA2734853171 | DSG2 | n.659+45C>T c.659+45C>T c.828+45C>T (n.828+45C>T) c.294+45C>T (n.294+45C>T) | dbSNP |
18 | g.31524632G>C | CA2741576437 | DSG2 | n.659+47G>C c.659+47G>C c.828+47G>C (n.828+47G>C) c.294+47G>C (n.294+47G>C) | |
18 | g.31524632G= | CA2293857192 | DSG2 | n.659+47G= c.659+47G= c.828+47G= (n.828+47G=) c.294+47G= (n.294+47G=) | |
18 | g.31524632G>T | CA629148145 | DSG2 | n.659+47G>T c.659+47G>T c.828+47G>T (n.828+47G>T) c.294+47G>T (n.294+47G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524633T>C | CA050165 | DSG2 | n.659+48T>C c.659+48T>C c.828+48T>C (n.828+48T>C) c.294+48T>C (n.294+48T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524633T= | CA2293857194 | DSG2 | n.659+48T= c.659+48T= c.828+48T= (n.828+48T=) c.294+48T= (n.294+48T=) | |
18 | g.31524634C>A | CA2641406218 | DSG2 | n.659+49C>A c.659+49C>A c.828+49C>A (n.828+49C>A) c.294+49C>A (n.294+49C>A) | gnomAD v4 |
18 | g.31524635C>A | CA2641406219 | DSG2 | n.659+50C>A c.659+50C>A c.828+50C>A (n.828+50C>A) c.294+50C>A (n.294+50C>A) | gnomAD v4 |
18 | g.31524636T>G | CA2641406220 | DSG2 | n.659+51T>G c.659+51T>G c.828+51T>G (n.828+51T>G) c.294+51T>G (n.294+51T>G) | gnomAD v4 |
18 | g.31524639T>G | CA2641406221 | DSG2 | n.659+54T>G c.659+54T>G c.828+54T>G (n.828+54T>G) c.294+54T>G (n.294+54T>G) | gnomAD v4 |
18 | g.31524645dup | CA2641406222 | DSG2 | n.660-58dup c.660-58dup c.829-58dup (n.829-58dup) c.295-58dup (n.295-58dup) | gnomAD v4 |
18 | g.31524645_31524646delinsAT | CA2293857197 | DSG2 | n.660-58_660-57delinsAT c.660-58_660-57delinsAT c.829-58_829-57delinsAT (n.829-58_829-57delinsAT) c.295-58_295-57delinsAT (n.295-58_295-57delinsAT) | |
18 | g.31524646del | CA778437062 | DSG2 | n.660-57del c.660-57del c.829-57del (n.829-57del) c.295-57del (n.295-57del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524646T>A | CA297732002 | DSG2 | n.660-57T>A c.660-57T>A c.829-57T>A (n.829-57T>A) c.295-57T>A (n.295-57T>A) | dbSNP |
18 | g.31524646T= | CA2293857204 | DSG2 | n.660-57T= c.660-57T= c.829-57T= (n.829-57T=) c.295-57T= (n.295-57T=) | |
18 | g.31524647A>G | CA2641406223 | DSG2 | n.660-56A>G c.660-56A>G c.829-56A>G (n.829-56A>G) c.295-56A>G (n.295-56A>G) | gnomAD v4 |
18 | g.31524648T>C | CA2293857209 | DSG2 | n.660-55T>C c.660-55T>C c.829-55T>C (n.829-55T>C) c.295-55T>C (n.295-55T>C) | dbSNP |
18 | g.31524648T= | CA2293857208 | DSG2 | n.660-55T= c.660-55T= c.829-55T= (n.829-55T=) c.295-55T= (n.295-55T=) | |
18 | g.31524649A>G | CA2641406224 | DSG2 | n.660-54A>G c.660-54A>G c.829-54A>G (n.829-54A>G) c.295-54A>G (n.295-54A>G) | gnomAD v4 |
18 | g.31524651C>A | CA297732003 | DSG2 | n.660-52C>A c.660-52C>A c.829-52C>A (n.829-52C>A) c.295-52C>A (n.295-52C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524651C= | CA2293857211 | DSG2 | n.660-52C= c.660-52C= c.829-52C= (n.829-52C=) c.295-52C= (n.295-52C=) | |
18 | g.31524651C>T | CA2293857212 | DSG2 | n.660-52C>T c.660-52C>T c.829-52C>T (n.829-52C>T) c.295-52C>T (n.295-52C>T) | dbSNP |