Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90627400G>A | CA360366410 | ADGRV1 | c.862G>A (p.Asp288Asn) n.567G>A n.958G>A n.921G>A c.859G>A (p.Asp287Asn) c.766G>A (p.Asp256Asn) n.961G>A | gnomAD v4 |
5 | g.90627400G>C | CA360366412 | ADGRV1 | c.862G>C (p.Asp288His) n.567G>C n.958G>C n.921G>C c.859G>C (p.Asp287His) c.766G>C (p.Asp256His) n.961G>C | |
5 | g.90627400G>T | CA360366416 | ADGRV1 | c.862G>T (p.Asp288Tyr) n.567G>T n.958G>T n.921G>T c.859G>T (p.Asp287Tyr) c.766G>T (p.Asp256Tyr) n.961G>T | |
5 | g.90627400_90627403delinsGACA | CA1562829353 | ADGRV1 | c.862_865delinsGACA (p.Asp288=) n.567_570delinsGACA n.958_961delinsGACA n.921_924delinsGACA c.859_862delinsGACA (p.Asp287=) c.766_769delinsGACA (p.Asp256=) n.961_964delinsGACA | |
5 | g.90627401A>C | CA360366420 | ADGRV1 | c.863A>C (p.Asp288Ala) n.568A>C n.959A>C n.922A>C c.860A>C (p.Asp287Ala) c.767A>C (p.Asp256Ala) n.962A>C | |
5 | g.90627401A>G | CA360366424 | ADGRV1 | c.863A>G (p.Asp288Gly) n.568A>G n.959A>G n.922A>G c.860A>G (p.Asp287Gly) c.767A>G (p.Asp256Gly) n.962A>G | |
5 | g.90627401A>T | CA360366426 | ADGRV1 | c.863A>T (p.Asp288Val) n.568A>T n.959A>T n.922A>T c.860A>T (p.Asp287Val) c.767A>T (p.Asp256Val) n.962A>T | |
5 | g.90627405_90627407del | CA561259527 | ADGRV1 | c.867_869del (p.Asn290del) n.572_574del n.963_965del n.926_928del c.864_866del (p.Asn289del) c.771_773del (p.Asn258del) n.966_968del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90627402C>A | CA360366430 | ADGRV1 | c.864C>A (p.Asp288Glu) n.569C>A n.960C>A n.923C>A c.861C>A (p.Asp287Glu) c.768C>A (p.Asp256Glu) n.963C>A | |
5 | g.90627402C= | CA1562829354 | ADGRV1 | c.864C= (p.Asp288=) n.569C= n.960C= n.923C= c.861C= (p.Asp287=) c.768C= (p.Asp256=) n.963C= | |
5 | g.90627402C>G | CA360366437 | ADGRV1 | c.864C>G (p.Asp288Glu) n.569C>G n.960C>G n.923C>G c.861C>G (p.Asp287Glu) c.768C>G (p.Asp256Glu) n.963C>G | |
5 | g.90627402C>T | CA121825284 | ADGRV1 | c.864C>T (p.Asp288=) n.569C>T n.960C>T n.923C>T c.861C>T (p.Asp287=) c.768C>T (p.Asp256=) n.963C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90627403A= | CA1562829355 | ADGRV1 | c.865A= (p.Asn289=) n.570A= n.961A= n.924A= c.862A= (p.Asn288=) c.769A= (p.Asn257=) n.964A= | |
5 | g.90627403A>C | CA360366440 | ADGRV1 | c.865A>C (p.Asn289His) n.570A>C n.961A>C n.924A>C c.862A>C (p.Asn288His) c.769A>C (p.Asn257His) n.964A>C | |
5 | g.90627403A>G | CA3338576 | ADGRV1 | c.865A>G (p.Asn289Asp) n.570A>G n.961A>G n.924A>G c.862A>G (p.Asn288Asp) c.769A>G (p.Asn257Asp) n.964A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90627403A>T | CA360366444 | ADGRV1 | c.865A>T (p.Asn289Tyr) n.570A>T n.961A>T n.924A>T c.862A>T (p.Asn288Tyr) c.769A>T (p.Asn257Tyr) n.964A>T | |
5 | g.90627404A= | CA1562829356 | ADGRV1 | c.866A= (p.Asn289=) n.571A= n.962A= n.925A= c.863A= (p.Asn288=) c.770A= (p.Asn257=) n.965A= | |
5 | g.90627404A>C | CA360366447 | ADGRV1 | c.866A>C (p.Asn289Thr) n.571A>C n.962A>C n.925A>C c.863A>C (p.Asn288Thr) c.770A>C (p.Asn257Thr) n.965A>C | |
5 | g.90627404A>G | CA121825295 | ADGRV1 | c.866A>G (p.Asn289Ser) n.571A>G n.962A>G n.925A>G c.863A>G (p.Asn288Ser) c.770A>G (p.Asn257Ser) n.965A>G | dbSNP |
5 | g.90627404A>T | CA360366451 | ADGRV1 | c.866A>T (p.Asn289Ile) n.571A>T n.962A>T n.925A>T c.863A>T (p.Asn288Ile) c.770A>T (p.Asn257Ile) n.965A>T | |
5 | g.90627405C>A | CA360366454 | ADGRV1 | c.867C>A (p.Asn289Lys) n.572C>A n.963C>A n.926C>A c.864C>A (p.Asn288Lys) c.771C>A (p.Asn257Lys) n.966C>A | |
5 | g.90627405C>G | CA360366457 | ADGRV1 | c.867C>G (p.Asn289Lys) n.572C>G n.963C>G n.926C>G c.864C>G (p.Asn288Lys) c.771C>G (p.Asn257Lys) n.966C>G | |
5 | g.90627405C>T | CA445465644 | ADGRV1 | c.867C>T (p.Asn289=) n.572C>T n.963C>T n.926C>T c.864C>T (p.Asn288=) c.771C>T (p.Asn257=) n.966C>T | |
5 | g.90627406A>C | CA360366465 | ADGRV1 | c.868A>C (p.Asn290His) n.573A>C n.964A>C n.927A>C c.865A>C (p.Asn289His) c.772A>C (p.Asn258His) n.967A>C | |
5 | g.90627406A>G | CA360366467 | ADGRV1 | c.868A>G (p.Asn290Asp) n.573A>G n.964A>G n.927A>G c.865A>G (p.Asn289Asp) c.772A>G (p.Asn258Asp) n.967A>G | |
5 | g.90627406A>T | CA360366470 | ADGRV1 | c.868A>T (p.Asn290Tyr) n.573A>T n.964A>T n.927A>T c.865A>T (p.Asn289Tyr) c.772A>T (p.Asn258Tyr) n.967A>T | |
5 | g.90627407A>C | CA360366473 | ADGRV1 | c.869A>C (p.Asn290Thr) n.574A>C n.965A>C n.928A>C c.866A>C (p.Asn289Thr) c.773A>C (p.Asn258Thr) n.968A>C | |
5 | g.90627407A>G | CA360366476 | ADGRV1 | c.869A>G (p.Asn290Ser) n.574A>G n.965A>G n.928A>G c.866A>G (p.Asn289Ser) c.773A>G (p.Asn258Ser) n.968A>G | gnomAD v4 |
5 | g.90627407A>T | CA360366478 | ADGRV1 | c.869A>T (p.Asn290Ile) n.574A>T n.965A>T n.928A>T c.866A>T (p.Asn289Ile) c.773A>T (p.Asn258Ile) n.968A>T | |
5 | g.90627408T>A | CA360366483 | ADGRV1 | c.870T>A (p.Asn290Lys) n.575T>A n.966T>A n.929T>A c.867T>A (p.Asn289Lys) c.774T>A (p.Asn258Lys) n.969T>A | |
5 | g.90627408T>C | CA445465645 | ADGRV1 | c.870T>C (p.Asn290=) n.575T>C n.966T>C n.929T>C c.867T>C (p.Asn289=) c.774T>C (p.Asn258=) n.969T>C | |
5 | g.90627408T>G | CA360366481 | ADGRV1 | c.870T>G (p.Asn290Lys) n.575T>G n.966T>G n.929T>G c.867T>G (p.Asn289Lys) c.774T>G (p.Asn258Lys) n.969T>G | gnomAD v4 |
5 | g.90627409G>A | CA360366484 | ADGRV1 | c.871G>A (p.Gly291Arg) n.576G>A n.967G>A n.930G>A c.868G>A (p.Gly290Arg) c.775G>A (p.Gly259Arg) n.970G>A | |
5 | g.90627409G>C | CA360366491 | ADGRV1 | c.871G>C (p.Gly291Arg) n.576G>C n.967G>C n.930G>C c.868G>C (p.Gly290Arg) c.775G>C (p.Gly259Arg) n.970G>C | |
5 | g.90627409G>T | CA360366489 | ADGRV1 | c.871G>T (p.Gly291Ter) n.576G>T n.967G>T n.930G>T c.868G>T (p.Gly290Ter) c.775G>T (p.Gly259Ter) n.970G>T | |
5 | g.90627410G>A | CA360366494 | ADGRV1 | c.872G>A (p.Gly291Glu) n.577G>A n.968G>A n.931G>A c.869G>A (p.Gly290Glu) c.776G>A (p.Gly259Glu) n.971G>A | dbSNP |
5 | g.90627410G>C | CA360366496 | ADGRV1 | c.872G>C (p.Gly291Ala) n.577G>C n.968G>C n.931G>C c.869G>C (p.Gly290Ala) c.776G>C (p.Gly259Ala) n.971G>C | |
5 | g.90627410G= | CA1562829357 | ADGRV1 | c.872G= (p.Gly291=) n.577G= n.968G= n.931G= c.869G= (p.Gly290=) c.776G= (p.Gly259=) n.971G= | |
5 | g.90627410G>T | CA360366498 | ADGRV1 | c.872G>T (p.Gly291Val) n.577G>T n.968G>T n.931G>T c.869G>T (p.Gly290Val) c.776G>T (p.Gly259Val) n.971G>T | |
5 | g.90627411A= | CA1562829358 | ADGRV1 | c.873A= (p.Gly291=) n.578A= n.969A= n.932A= c.870A= (p.Gly290=) c.777A= (p.Gly259=) n.972A= | |
5 | g.90627411A>C | CA445465646 | ADGRV1 | c.873A>C (p.Gly291=) n.578A>C n.969A>C n.932A>C c.870A>C (p.Gly290=) c.777A>C (p.Gly259=) n.972A>C | |
5 | g.90627411A>G | CA445465647 | ADGRV1 | c.873A>G (p.Gly291=) n.578A>G n.969A>G n.932A>G c.870A>G (p.Gly290=) c.777A>G (p.Gly259=) n.972A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90627411A>T | CA445465648 | ADGRV1 | c.873A>T (p.Gly291=) n.578A>T n.969A>T n.932A>T c.870A>T (p.Gly290=) c.777A>T (p.Gly259=) n.972A>T | |
5 | g.90627412A>C | CA360366504 | ADGRV1 | c.874A>C (p.Asn292His) n.579A>C n.970A>C n.933A>C c.871A>C (p.Asn291His) c.778A>C (p.Asn260His) n.973A>C | |
5 | g.90627412A>G | CA360366507 | ADGRV1 | c.874A>G (p.Asn292Asp) n.579A>G n.970A>G n.933A>G c.871A>G (p.Asn291Asp) c.778A>G (p.Asn260Asp) n.973A>G | |
5 | g.90627412A>T | CA360366511 | ADGRV1 | c.874A>T (p.Asn292Tyr) n.579A>T n.970A>T n.933A>T c.871A>T (p.Asn291Tyr) c.778A>T (p.Asn260Tyr) n.973A>T | |
5 | g.90627413A>C | CA360366524 | ADGRV1 | c.875A>C (p.Asn292Thr) n.580A>C n.971A>C n.934A>C c.872A>C (p.Asn291Thr) c.779A>C (p.Asn260Thr) n.974A>C | |
5 | g.90627413A>G | CA360366527 | ADGRV1 | c.875A>G (p.Asn292Ser) n.580A>G n.971A>G n.934A>G c.872A>G (p.Asn291Ser) c.779A>G (p.Asn260Ser) n.974A>G | |
5 | g.90627413A>T | CA360366530 | ADGRV1 | c.875A>T (p.Asn292Ile) n.580A>T n.971A>T n.934A>T c.872A>T (p.Asn291Ile) c.779A>T (p.Asn260Ile) n.974A>T | |
5 | g.90627414T>A | CA360366533 | ADGRV1 | c.876T>A (p.Asn292Lys) n.581T>A n.972T>A n.935T>A c.873T>A (p.Asn291Lys) c.780T>A (p.Asn260Lys) n.975T>A |