Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.31524775A>T | CA402135625 | DSG2 | n.732A>T c.732A>T c.901A>T (p.Ile301Leu) c.367A>T (p.Ile123Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.31524775_31524776delinsAT | CA2293856939 | DSG2 | n.732_733delinsAT c.732_733delinsAT c.901_902delinsAT (p.Ile301=) c.367_368delinsAT (p.Ile123=) | |
18 | g.31524776del | CA050440 | DSG2 | n.733del c.733del c.902del (p.Ile301LysfsTer23) c.368del (p.Ile123LysfsTer23) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524776T>A | CA402135626 | DSG2 | n.733T>A c.733T>A c.902T>A (p.Ile301Lys) c.368T>A (p.Ile123Lys) | |
18 | g.31524776T>C | CA402135627 | DSG2 | n.733T>C c.733T>C c.902T>C (p.Ile301Thr) c.368T>C (p.Ile123Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524776T>G | CA402135628 | DSG2 | n.733T>G c.733T>G c.902T>G (p.Ile301Arg) c.368T>G (p.Ile123Arg) | |
18 | g.31524776T= | CA2293856943 | DSG2 | n.733T= c.733T= c.902T= (p.Ile301=) c.368T= (p.Ile123=) | |
18 | g.31524777A>C | CA503599274 | DSG2 | n.734A>C c.734A>C c.903A>C (p.Ile301=) c.369A>C (p.Ile123=) | |
18 | g.31524777A>G | CA402135629 | DSG2 | n.734A>G c.734A>G c.903A>G (p.Ile301Met) c.369A>G (p.Ile123Met) | gnomAD v4 |
18 | g.31524777A>T | CA503599275 | DSG2 | n.734A>T c.734A>T c.903A>T (p.Ile301=) c.369A>T (p.Ile123=) | gnomAD v4 |
18 | g.31524778G>A | CA402135630 | DSG2 | n.735G>A c.735G>A c.904G>A (p.Gly302Ser) c.370G>A (p.Gly124Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.31524778G>C | CA402135632 | DSG2 | n.735G>C c.735G>C c.904G>C (p.Gly302Arg) c.370G>C (p.Gly124Arg) | |
18 | g.31524778G= | CA2293856944 | DSG2 | n.735G= c.735G= c.904G= (p.Gly302=) c.370G= (p.Gly124=) | |
18 | g.31524778G>T | CA402135631 | DSG2 | n.735G>T c.735G>T c.904G>T (p.Gly302Cys) c.370G>T (p.Gly124Cys) | |
18 | g.31524779G>A | CA402135633 | DSG2 | n.736G>A c.736G>A c.905G>A (p.Gly302Asp) c.371G>A (p.Gly124Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.31524779G>C | CA402135634 | DSG2 | n.736G>C c.736G>C c.905G>C (p.Gly302Ala) c.371G>C (p.Gly124Ala) | |
18 | g.31524779G= | CA2293856946 | DSG2 | n.736G= c.736G= c.905G= (p.Gly302=) c.371G= (p.Gly124=) | |
18 | g.31524779G>T | CA402135635 | DSG2 | n.736G>T c.736G>T c.905G>T (p.Gly302Val) c.371G>T (p.Gly124Val) | |
18 | g.31524780T>A | CA503599276 | DSG2 | n.737T>A c.737T>A c.906T>A (p.Gly302=) c.372T>A (p.Gly124=) | |
18 | g.31524780T>C | CA503599277 | DSG2 | n.737T>C c.737T>C c.906T>C (p.Gly302=) c.372T>C (p.Gly124=) | dbSNP |
18 | g.31524780T>G | CA503599278 | DSG2 | n.737T>G c.737T>G c.906T>G (p.Gly302=) c.372T>G (p.Gly124=) | |
18 | g.31524780T= | CA2293856948 | DSG2 | n.737T= c.737T= c.906T= (p.Gly302=) c.372T= (p.Gly124=) | |
18 | g.31524781T>A | CA402135636 | DSG2 | n.738T>A c.738T>A c.907T>A (p.Ser303Thr) c.373T>A (p.Ser125Thr) | |
18 | g.31524781T>C | CA402135637 | DSG2 | n.738T>C c.738T>C c.907T>C (p.Ser303Pro) c.373T>C (p.Ser125Pro) | |
18 | g.31524781T>G | CA402135638 | DSG2 | n.738T>G c.738T>G c.907T>G (p.Ser303Ala) c.373T>G (p.Ser125Ala) | |
18 | g.31524782C>A | CA402135639 | DSG2 | n.739C>A c.739C>A c.908C>A (p.Ser303Tyr) c.374C>A (p.Ser125Tyr) | |
18 | g.31524782C= | CA2293856950 | DSG2 | n.739C= c.739C= c.908C= (p.Ser303=) c.374C= (p.Ser125=) | |
18 | g.31524782C>G | CA402135640 | DSG2 | n.739C>G c.739C>G c.908C>G (p.Ser303Cys) c.374C>G (p.Ser125Cys) | |
18 | g.31524782C>T | CA050446 | DSG2 | n.739C>T c.739C>T c.908C>T (p.Ser303Phe) c.374C>T (p.Ser125Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524783del | CA2573155225 | DSG2 | n.740del c.740del c.909del (p.Asp304IlefsTer20) c.375del (p.Asp126IlefsTer20) | ClinVar dbSNP |
18 | g.31524783T>A | CA050457 | DSG2 | n.740T>A c.740T>A c.909T>A (p.Ser303=) c.375T>A (p.Ser125=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524783T>C | CA503599280 | DSG2 | n.740T>C c.740T>C c.909T>C (p.Ser303=) c.375T>C (p.Ser125=) | |
18 | g.31524783T>G | CA503599279 | DSG2 | n.740T>G c.740T>G c.909T>G (p.Ser303=) c.375T>G (p.Ser125=) | |
18 | g.31524783T= | CA2293856952 | DSG2 | n.740T= c.740T= c.909T= (p.Ser303=) c.375T= (p.Ser125=) | |
18 | g.31524784G>A | CA402135641 | DSG2 | n.741G>A c.741G>A c.910G>A (p.Asp304Asn) c.376G>A (p.Asp126Asn) | |
18 | g.31524784G>C | CA402135642 | DSG2 | n.741G>C c.741G>C c.910G>C (p.Asp304His) c.376G>C (p.Asp126His) | |
18 | g.31524784G>T | CA402135643 | DSG2 | n.741G>T c.741G>T c.910G>T (p.Asp304Tyr) c.376G>T (p.Asp126Tyr) | |
18 | g.31524785A>C | CA402135646 | DSG2 | n.742A>C c.742A>C c.911A>C (p.Asp304Ala) c.377A>C (p.Asp126Ala) | |
18 | g.31524785A>G | CA402135645 | DSG2 | n.742A>G c.742A>G c.911A>G (p.Asp304Gly) c.377A>G (p.Asp126Gly) | gnomAD v4 |
18 | g.31524785A>T | CA402135644 | DSG2 | n.742A>T c.742A>T c.911A>T (p.Asp304Val) c.377A>T (p.Asp126Val) | gnomAD v4 |