| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) | 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) |