Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31524540T>A | CA049892 | DSG2 | n.614T>A c.614T>A c.783T>A (p.Arg261=) c.249T>A (p.Arg83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524540T>C | CA503599125 | DSG2 | n.614T>C c.614T>C c.783T>C (p.Arg261=) c.249T>C (p.Arg83=) | |
18 | g.31524540T>G | CA503599126 | DSG2 | n.614T>G c.614T>G c.783T>G (p.Arg261=) c.249T>G (p.Arg83=) | |
18 | g.31524540T= | CA2293857030 | DSG2 | n.614T= c.614T= c.783T= (p.Arg261=) c.249T= (p.Arg83=) | |
18 | g.31524541A= | CA2293857032 | DSG2 | n.615A= c.615A= c.784A= (p.Ile262=) c.250A= (p.Ile84=) | |
18 | g.31524541A>C | CA402135155 | DSG2 | n.615A>C c.615A>C c.784A>C (p.Ile262Leu) c.250A>C (p.Ile84Leu) | |
18 | g.31524541A>G | CA402135157 | DSG2 | n.615A>G c.615A>G c.784A>G (p.Ile262Val) c.250A>G (p.Ile84Val) | ClinVar dbSNP |
18 | g.31524541A>T | CA402135158 | DSG2 | n.615A>T c.615A>T c.784A>T (p.Ile262Phe) c.250A>T (p.Ile84Phe) | |
18 | g.31524542T>A | CA402135161 | DSG2 | n.616T>A c.616T>A c.785T>A (p.Ile262Asn) c.251T>A (p.Ile84Asn) | |
18 | g.31524542T>C | CA402135162 | DSG2 | n.616T>C c.616T>C c.785T>C (p.Ile262Thr) c.251T>C (p.Ile84Thr) | |
18 | g.31524542T>G | CA402135163 | DSG2 | n.616T>G c.616T>G c.785T>G (p.Ile262Ser) c.251T>G (p.Ile84Ser) | |
18 | g.31524543T>A | CA503599137 | DSG2 | n.617T>A c.617T>A c.786T>A (p.Ile262=) c.252T>A (p.Ile84=) | |
18 | g.31524543T>C | CA503599133 | DSG2 | n.617T>C c.617T>C c.786T>C (p.Ile262=) c.252T>C (p.Ile84=) | |
18 | g.31524543T>G | CA402135165 | DSG2 | n.617T>G c.617T>G c.786T>G (p.Ile262Met) c.252T>G (p.Ile84Met) | |
18 | g.31524544T>A | CA402135166 | DSG2 | n.618T>A c.618T>A c.787T>A (p.Leu263Met) c.253T>A (p.Leu85Met) | |
18 | g.31524544T>C | CA503599140 | DSG2 | n.618T>C c.618T>C c.787T>C (p.Leu263=) c.253T>C (p.Leu85=) | |
18 | g.31524544T>G | CA402135168 | DSG2 | n.618T>G c.618T>G c.787T>G (p.Leu263Val) c.253T>G (p.Leu85Val) | |
18 | g.31524545T>A | CA402135171 | DSG2 | n.619T>A c.619T>A c.788T>A (p.Leu263Ter) c.254T>A (p.Leu85Ter) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524545T>C | CA402135173 | DSG2 | n.619T>C c.619T>C c.788T>C (p.Leu263Ser) c.254T>C (p.Leu85Ser) | |
18 | g.31524545T>G | CA402135169 | DSG2 | n.619T>G c.619T>G c.788T>G (p.Leu263Trp) c.254T>G (p.Leu85Trp) | gnomAD v4 |
18 | g.31524545T= | CA2293857034 | DSG2 | n.619T= c.619T= c.788T= (p.Leu263=) c.254T= (p.Leu85=) | |
18 | g.31524546G>A | CA503599146 | DSG2 | n.620G>A c.620G>A c.789G>A (p.Leu263=) c.255G>A (p.Leu85=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524546G>C | CA402135175 | DSG2 | n.620G>C c.620G>C c.789G>C (p.Leu263Phe) c.255G>C (p.Leu85Phe) | |
18 | g.31524546G= | CA2293857035 | DSG2 | n.620G= c.620G= c.789G= (p.Leu263=) c.255G= (p.Leu85=) | |
18 | g.31524546G>T | CA402135176 | DSG2 | n.620G>T c.620G>T c.789G>T (p.Leu263Phe) c.255G>T (p.Leu85Phe) | |
18 | g.31524547G>A | CA402135178 | DSG2 | n.621G>A c.621G>A c.790G>A (p.Asp264Asn) c.256G>A (p.Asp86Asn) | gnomAD v4 |
18 | g.31524547G>C | CA402135179 | DSG2 | n.621G>C c.621G>C c.790G>C (p.Asp264His) c.256G>C (p.Asp86His) | |
18 | g.31524547G>T | CA402135180 | DSG2 | n.621G>T c.621G>T c.790G>T (p.Asp264Tyr) c.256G>T (p.Asp86Tyr) | |
18 | g.31524548A= | CA2293857037 | DSG2 | n.622A= c.622A= c.791A= (p.Asp264=) c.257A= (p.Asp86=) | |
18 | g.31524548A>C | CA402135182 | DSG2 | n.622A>C c.622A>C c.791A>C (p.Asp264Ala) c.257A>C (p.Asp86Ala) | |
18 | g.31524548A>G | CA049904 | DSG2 | n.622A>G c.622A>G c.791A>G (p.Asp264Gly) c.257A>G (p.Asp86Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524548A>T | CA402135184 | DSG2 | n.622A>T c.622A>T c.791A>T (p.Asp264Val) c.257A>T (p.Asp86Val) | |
18 | g.31524549T>A | CA353890 | DSG2 | n.623T>A c.623T>A c.792T>A (p.Asp264Glu) c.258T>A (p.Asp86Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524549T>C | CA503599156 | DSG2 | n.623T>C c.623T>C c.792T>C (p.Asp264=) c.258T>C (p.Asp86=) | |
18 | g.31524549T>G | CA402135186 | DSG2 | n.623T>G c.623T>G c.792T>G (p.Asp264Glu) c.258T>G (p.Asp86Glu) | |
18 | g.31524549T= | CA2293857039 | DSG2 | n.623T= c.623T= c.792T= (p.Asp264=) c.258T= (p.Asp86=) | |
18 | g.31524550G>A | CA402135188 | DSG2 | n.624G>A c.624G>A c.793G>A (p.Val265Ile) c.259G>A (p.Val87Ile) | |
18 | g.31524550G>C | CA402135190 | DSG2 | n.624G>C c.624G>C c.793G>C (p.Val265Leu) c.259G>C (p.Val87Leu) | |
18 | g.31524550G= | CA2293857040 | DSG2 | n.624G= c.624G= c.793G= (p.Val265=) c.259G= (p.Val87=) | |
18 | g.31524550G>T | CA402135192 | DSG2 | n.624G>T c.624G>T c.793G>T (p.Val265Phe) c.259G>T (p.Val87Phe) | dbSNP |
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) |