Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90791094T>A | CA360401183 | ADGRV1 | c.14265T>A (p.Tyr4755Ter) c.3219T>A (p.Tyr1073Ter) n.1532T>A n.31T>A c.894T>A (p.Tyr298Ter) c.265+114885T>A (n.265+114885T>A) c.675T>A (p.Tyr225Ter) c.1248T>A (p.Tyr416Ter) n.14278T>A c.14262T>A (p.Tyr4754Ter) c.14184T>A (p.Tyr4728Ter) c.11568T>A (p.Tyr3856Ter) c.14286T>A (p.Tyr4762Ter) c.14283T>A (p.Tyr4761Ter) c.14205T>A (p.Tyr4735Ter) c.14190T>A (p.Tyr4730Ter) c.7404T>A (p.Tyr2468Ter) c.7383T>A (p.Tyr2461Ter) n.14281T>A | |
5 | g.90791094T>C | CA445467501 | ADGRV1 | c.14265T>C (p.Tyr4755=) c.3219T>C (p.Tyr1073=) n.1532T>C n.31T>C c.894T>C (p.Tyr298=) c.265+114885T>C (n.265+114885T>C) c.675T>C (p.Tyr225=) c.1248T>C (p.Tyr416=) n.14278T>C c.14262T>C (p.Tyr4754=) c.14184T>C (p.Tyr4728=) c.11568T>C (p.Tyr3856=) c.14286T>C (p.Tyr4762=) c.14283T>C (p.Tyr4761=) c.14205T>C (p.Tyr4735=) c.14190T>C (p.Tyr4730=) c.7404T>C (p.Tyr2468=) c.7383T>C (p.Tyr2461=) n.14281T>C | |
5 | g.90791094T>G | CA360401184 | ADGRV1 | c.14265T>G (p.Tyr4755Ter) c.3219T>G (p.Tyr1073Ter) n.1532T>G n.31T>G c.894T>G (p.Tyr298Ter) c.265+114885T>G (n.265+114885T>G) c.675T>G (p.Tyr225Ter) c.1248T>G (p.Tyr416Ter) n.14278T>G c.14262T>G (p.Tyr4754Ter) c.14184T>G (p.Tyr4728Ter) c.11568T>G (p.Tyr3856Ter) c.14286T>G (p.Tyr4762Ter) c.14283T>G (p.Tyr4761Ter) c.14205T>G (p.Tyr4735Ter) c.14190T>G (p.Tyr4730Ter) c.7404T>G (p.Tyr2468Ter) c.7383T>G (p.Tyr2461Ter) n.14281T>G | dbSNP |
5 | g.90791095G>A | CA360401186 | ADGRV1 | c.14266G>A (p.Ala4756Thr) c.3220G>A (p.Ala1074Thr) n.1533G>A n.32G>A c.895G>A (p.Ala299Thr) c.265+114886G>A (n.265+114886G>A) c.676G>A (p.Ala226Thr) c.1249G>A (p.Ala417Thr) n.14279G>A c.14263G>A (p.Ala4755Thr) c.14185G>A (p.Ala4729Thr) c.11569G>A (p.Ala3857Thr) c.14287G>A (p.Ala4763Thr) c.14284G>A (p.Ala4762Thr) c.14206G>A (p.Ala4736Thr) c.14191G>A (p.Ala4731Thr) c.7405G>A (p.Ala2469Thr) c.7384G>A (p.Ala2462Thr) n.14282G>A | gnomAD v4 |
5 | g.90791095G>C | CA360401188 | ADGRV1 | c.14266G>C (p.Ala4756Pro) c.3220G>C (p.Ala1074Pro) n.1533G>C n.32G>C c.895G>C (p.Ala299Pro) c.265+114886G>C (n.265+114886G>C) c.676G>C (p.Ala226Pro) c.1249G>C (p.Ala417Pro) n.14279G>C c.14263G>C (p.Ala4755Pro) c.14185G>C (p.Ala4729Pro) c.11569G>C (p.Ala3857Pro) c.14287G>C (p.Ala4763Pro) c.14284G>C (p.Ala4762Pro) c.14206G>C (p.Ala4736Pro) c.14191G>C (p.Ala4731Pro) c.7405G>C (p.Ala2469Pro) c.7384G>C (p.Ala2462Pro) n.14282G>C | |
5 | g.90791095G>T | CA360401191 | ADGRV1 | c.14266G>T (p.Ala4756Ser) c.3220G>T (p.Ala1074Ser) n.1533G>T n.32G>T c.895G>T (p.Ala299Ser) c.265+114886G>T (n.265+114886G>T) c.676G>T (p.Ala226Ser) c.1249G>T (p.Ala417Ser) n.14279G>T c.14263G>T (p.Ala4755Ser) c.14185G>T (p.Ala4729Ser) c.11569G>T (p.Ala3857Ser) c.14287G>T (p.Ala4763Ser) c.14284G>T (p.Ala4762Ser) c.14206G>T (p.Ala4736Ser) c.14191G>T (p.Ala4731Ser) c.7405G>T (p.Ala2469Ser) c.7384G>T (p.Ala2462Ser) n.14282G>T | |
5 | g.90791096C>A | CA360401194 | ADGRV1 | c.14267C>A (p.Ala4756Glu) c.3221C>A (p.Ala1074Glu) n.1534C>A n.33C>A c.896C>A (p.Ala299Glu) c.265+114887C>A (n.265+114887C>A) c.677C>A (p.Ala226Glu) c.1250C>A (p.Ala417Glu) n.14280C>A c.14264C>A (p.Ala4755Glu) c.14186C>A (p.Ala4729Glu) c.11570C>A (p.Ala3857Glu) c.14288C>A (p.Ala4763Glu) c.14285C>A (p.Ala4762Glu) c.14207C>A (p.Ala4736Glu) c.14192C>A (p.Ala4731Glu) c.7406C>A (p.Ala2469Glu) c.7385C>A (p.Ala2462Glu) n.14283C>A | |
5 | g.90791096C>G | CA360401200 | ADGRV1 | c.14267C>G (p.Ala4756Gly) c.3221C>G (p.Ala1074Gly) n.1534C>G n.33C>G c.896C>G (p.Ala299Gly) c.265+114887C>G (n.265+114887C>G) c.677C>G (p.Ala226Gly) c.1250C>G (p.Ala417Gly) n.14280C>G c.14264C>G (p.Ala4755Gly) c.14186C>G (p.Ala4729Gly) c.11570C>G (p.Ala3857Gly) c.14288C>G (p.Ala4763Gly) c.14285C>G (p.Ala4762Gly) c.14207C>G (p.Ala4736Gly) c.14192C>G (p.Ala4731Gly) c.7406C>G (p.Ala2469Gly) c.7385C>G (p.Ala2462Gly) n.14283C>G | |
5 | g.90791096C>T | CA360401203 | ADGRV1 | c.14267C>T (p.Ala4756Val) c.3221C>T (p.Ala1074Val) n.1534C>T n.33C>T c.896C>T (p.Ala299Val) c.265+114887C>T (n.265+114887C>T) c.677C>T (p.Ala226Val) c.1250C>T (p.Ala417Val) n.14280C>T c.14264C>T (p.Ala4755Val) c.14186C>T (p.Ala4729Val) c.11570C>T (p.Ala3857Val) c.14288C>T (p.Ala4763Val) c.14285C>T (p.Ala4762Val) c.14207C>T (p.Ala4736Val) c.14192C>T (p.Ala4731Val) c.7406C>T (p.Ala2469Val) c.7385C>T (p.Ala2462Val) n.14283C>T | |
5 | g.90791097A= | CA1562902242 | ADGRV1 | c.14268A= (p.Ala4756=) c.3222A= (p.Ala1074=) n.1535A= n.34A= c.897A= (p.Ala299=) c.265+114888A= (n.265+114888A=) c.678A= (p.Ala226=) c.1251A= (p.Ala417=) n.14281A= c.14265A= (p.Ala4755=) c.14187A= (p.Ala4729=) c.11571A= (p.Ala3857=) c.14289A= (p.Ala4763=) c.14286A= (p.Ala4762=) c.14208A= (p.Ala4736=) c.14193A= (p.Ala4731=) c.7407A= (p.Ala2469=) c.7386A= (p.Ala2462=) n.14284A= | |
5 | g.90791097A>C | CA445467503 | ADGRV1 | c.14268A>C (p.Ala4756=) c.3222A>C (p.Ala1074=) n.1535A>C n.34A>C c.897A>C (p.Ala299=) c.265+114888A>C (n.265+114888A>C) c.678A>C (p.Ala226=) c.1251A>C (p.Ala417=) n.14281A>C c.14265A>C (p.Ala4755=) c.14187A>C (p.Ala4729=) c.11571A>C (p.Ala3857=) c.14289A>C (p.Ala4763=) c.14286A>C (p.Ala4762=) c.14208A>C (p.Ala4736=) c.14193A>C (p.Ala4731=) c.7407A>C (p.Ala2469=) c.7386A>C (p.Ala2462=) n.14284A>C | |
5 | g.90791097A>G | CA445467504 | ADGRV1 | c.14268A>G (p.Ala4756=) c.3222A>G (p.Ala1074=) n.1535A>G n.34A>G c.897A>G (p.Ala299=) c.265+114888A>G (n.265+114888A>G) c.678A>G (p.Ala226=) c.1251A>G (p.Ala417=) n.14281A>G c.14265A>G (p.Ala4755=) c.14187A>G (p.Ala4729=) c.11571A>G (p.Ala3857=) c.14289A>G (p.Ala4763=) c.14286A>G (p.Ala4762=) c.14208A>G (p.Ala4736=) c.14193A>G (p.Ala4731=) c.7407A>G (p.Ala2469=) c.7386A>G (p.Ala2462=) n.14284A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90791097A>T | CA445467505 | ADGRV1 | c.14268A>T (p.Ala4756=) c.3222A>T (p.Ala1074=) n.1535A>T n.34A>T c.897A>T (p.Ala299=) c.265+114888A>T (n.265+114888A>T) c.678A>T (p.Ala226=) c.1251A>T (p.Ala417=) n.14281A>T c.14265A>T (p.Ala4755=) c.14187A>T (p.Ala4729=) c.11571A>T (p.Ala3857=) c.14289A>T (p.Ala4763=) c.14286A>T (p.Ala4762=) c.14208A>T (p.Ala4736=) c.14193A>T (p.Ala4731=) c.7407A>T (p.Ala2469=) c.7386A>T (p.Ala2462=) n.14284A>T | dbSNP |
5 | g.90791098A>C | CA360401208 | ADGRV1 | c.14269A>C (p.Asn4757His) c.3223A>C (p.Asn1075His) n.1536A>C n.35A>C c.898A>C (p.Asn300His) c.265+114889A>C (n.265+114889A>C) c.679A>C (p.Asn227His) c.1252A>C (p.Asn418His) n.14282A>C c.14266A>C (p.Asn4756His) c.14188A>C (p.Asn4730His) c.11572A>C (p.Asn3858His) c.14290A>C (p.Asn4764His) c.14287A>C (p.Asn4763His) c.14209A>C (p.Asn4737His) c.14194A>C (p.Asn4732His) c.7408A>C (p.Asn2470His) c.7387A>C (p.Asn2463His) n.14285A>C | |
5 | g.90791098A>G | CA360401213 | ADGRV1 | c.14269A>G (p.Asn4757Asp) c.3223A>G (p.Asn1075Asp) n.1536A>G n.35A>G c.898A>G (p.Asn300Asp) c.265+114889A>G (n.265+114889A>G) c.679A>G (p.Asn227Asp) c.1252A>G (p.Asn418Asp) n.14282A>G c.14266A>G (p.Asn4756Asp) c.14188A>G (p.Asn4730Asp) c.11572A>G (p.Asn3858Asp) c.14290A>G (p.Asn4764Asp) c.14287A>G (p.Asn4763Asp) c.14209A>G (p.Asn4737Asp) c.14194A>G (p.Asn4732Asp) c.7408A>G (p.Asn2470Asp) c.7387A>G (p.Asn2463Asp) n.14285A>G | |
5 | g.90791098A>T | CA360401217 | ADGRV1 | c.14269A>T (p.Asn4757Tyr) c.3223A>T (p.Asn1075Tyr) n.1536A>T n.35A>T c.898A>T (p.Asn300Tyr) c.265+114889A>T (n.265+114889A>T) c.679A>T (p.Asn227Tyr) c.1252A>T (p.Asn418Tyr) n.14282A>T c.14266A>T (p.Asn4756Tyr) c.14188A>T (p.Asn4730Tyr) c.11572A>T (p.Asn3858Tyr) c.14290A>T (p.Asn4764Tyr) c.14287A>T (p.Asn4763Tyr) c.14209A>T (p.Asn4737Tyr) c.14194A>T (p.Asn4732Tyr) c.7408A>T (p.Asn2470Tyr) c.7387A>T (p.Asn2463Tyr) n.14285A>T | |
5 | g.90791099A>C | CA360401227 | ADGRV1 | c.14270A>C (p.Asn4757Thr) c.3224A>C (p.Asn1075Thr) n.1537A>C n.36A>C c.899A>C (p.Asn300Thr) c.265+114890A>C (n.265+114890A>C) c.680A>C (p.Asn227Thr) c.1253A>C (p.Asn418Thr) n.14283A>C c.14267A>C (p.Asn4756Thr) c.14189A>C (p.Asn4730Thr) c.11573A>C (p.Asn3858Thr) c.14291A>C (p.Asn4764Thr) c.14288A>C (p.Asn4763Thr) c.14210A>C (p.Asn4737Thr) c.14195A>C (p.Asn4732Thr) c.7409A>C (p.Asn2470Thr) c.7388A>C (p.Asn2463Thr) n.14286A>C | |
5 | g.90791099A>G | CA360401222 | ADGRV1 | c.14270A>G (p.Asn4757Ser) c.3224A>G (p.Asn1075Ser) n.1537A>G n.36A>G c.899A>G (p.Asn300Ser) c.265+114890A>G (n.265+114890A>G) c.680A>G (p.Asn227Ser) c.1253A>G (p.Asn418Ser) n.14283A>G c.14267A>G (p.Asn4756Ser) c.14189A>G (p.Asn4730Ser) c.11573A>G (p.Asn3858Ser) c.14291A>G (p.Asn4764Ser) c.14288A>G (p.Asn4763Ser) c.14210A>G (p.Asn4737Ser) c.14195A>G (p.Asn4732Ser) c.7409A>G (p.Asn2470Ser) c.7388A>G (p.Asn2463Ser) n.14286A>G | |
5 | g.90791099A>T | CA360401224 | ADGRV1 | c.14270A>T (p.Asn4757Ile) c.3224A>T (p.Asn1075Ile) n.1537A>T n.36A>T c.899A>T (p.Asn300Ile) c.265+114890A>T (n.265+114890A>T) c.680A>T (p.Asn227Ile) c.1253A>T (p.Asn418Ile) n.14283A>T c.14267A>T (p.Asn4756Ile) c.14189A>T (p.Asn4730Ile) c.11573A>T (p.Asn3858Ile) c.14291A>T (p.Asn4764Ile) c.14288A>T (p.Asn4763Ile) c.14210A>T (p.Asn4737Ile) c.14195A>T (p.Asn4732Ile) c.7409A>T (p.Asn2470Ile) c.7388A>T (p.Asn2463Ile) n.14286A>T | |
5 | g.90791100T>A | CA360401230 | ADGRV1 | c.14271T>A (p.Asn4757Lys) c.3225T>A (p.Asn1075Lys) n.1538T>A n.37T>A c.900T>A (p.Asn300Lys) c.265+114891T>A (n.265+114891T>A) c.681T>A (p.Asn227Lys) c.1254T>A (p.Asn418Lys) n.14284T>A c.14268T>A (p.Asn4756Lys) c.14190T>A (p.Asn4730Lys) c.11574T>A (p.Asn3858Lys) c.14292T>A (p.Asn4764Lys) c.14289T>A (p.Asn4763Lys) c.14211T>A (p.Asn4737Lys) c.14196T>A (p.Asn4732Lys) c.7410T>A (p.Asn2470Lys) c.7389T>A (p.Asn2463Lys) n.14287T>A | |
5 | g.90791100T>C | CA445467507 | ADGRV1 | c.14271T>C (p.Asn4757=) c.3225T>C (p.Asn1075=) n.1538T>C n.37T>C c.900T>C (p.Asn300=) c.265+114891T>C (n.265+114891T>C) c.681T>C (p.Asn227=) c.1254T>C (p.Asn418=) n.14284T>C c.14268T>C (p.Asn4756=) c.14190T>C (p.Asn4730=) c.11574T>C (p.Asn3858=) c.14292T>C (p.Asn4764=) c.14289T>C (p.Asn4763=) c.14211T>C (p.Asn4737=) c.14196T>C (p.Asn4732=) c.7410T>C (p.Asn2470=) c.7389T>C (p.Asn2463=) n.14287T>C | |
5 | g.90791100T>G | CA360401233 | ADGRV1 | c.14271T>G (p.Asn4757Lys) c.3225T>G (p.Asn1075Lys) n.1538T>G n.37T>G c.900T>G (p.Asn300Lys) c.265+114891T>G (n.265+114891T>G) c.681T>G (p.Asn227Lys) c.1254T>G (p.Asn418Lys) n.14284T>G c.14268T>G (p.Asn4756Lys) c.14190T>G (p.Asn4730Lys) c.11574T>G (p.Asn3858Lys) c.14292T>G (p.Asn4764Lys) c.14289T>G (p.Asn4763Lys) c.14211T>G (p.Asn4737Lys) c.14196T>G (p.Asn4732Lys) c.7410T>G (p.Asn2470Lys) c.7389T>G (p.Asn2463Lys) n.14287T>G | |
5 | g.90791101G>A | CA360401235 | ADGRV1 | c.14272G>A (p.Asp4758Asn) c.3226G>A (p.Asp1076Asn) n.1539G>A n.38G>A c.901G>A (p.Asp301Asn) c.265+114892G>A (n.265+114892G>A) c.682G>A (p.Asp228Asn) c.1255G>A (p.Asp419Asn) n.14285G>A c.14269G>A (p.Asp4757Asn) c.14191G>A (p.Asp4731Asn) c.11575G>A (p.Asp3859Asn) c.14293G>A (p.Asp4765Asn) c.14290G>A (p.Asp4764Asn) c.14212G>A (p.Asp4738Asn) c.14197G>A (p.Asp4733Asn) c.7411G>A (p.Asp2471Asn) c.7390G>A (p.Asp2464Asn) n.14288G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90791101G>C | CA3341700 | ADGRV1 | c.14272G>C (p.Asp4758His) c.3226G>C (p.Asp1076His) n.1539G>C n.38G>C c.901G>C (p.Asp301His) c.265+114892G>C (n.265+114892G>C) c.682G>C (p.Asp228His) c.1255G>C (p.Asp419His) n.14285G>C c.14269G>C (p.Asp4757His) c.14191G>C (p.Asp4731His) c.11575G>C (p.Asp3859His) c.14293G>C (p.Asp4765His) c.14290G>C (p.Asp4764His) c.14212G>C (p.Asp4738His) c.14197G>C (p.Asp4733His) c.7411G>C (p.Asp2471His) c.7390G>C (p.Asp2464His) n.14288G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90791101G= | CA1562902243 | ADGRV1 | c.14272G= (p.Asp4758=) c.3226G= (p.Asp1076=) n.1539G= n.38G= c.901G= (p.Asp301=) c.265+114892G= (n.265+114892G=) c.682G= (p.Asp228=) c.1255G= (p.Asp419=) n.14285G= c.14269G= (p.Asp4757=) c.14191G= (p.Asp4731=) c.11575G= (p.Asp3859=) c.14293G= (p.Asp4765=) c.14290G= (p.Asp4764=) c.14212G= (p.Asp4738=) c.14197G= (p.Asp4733=) c.7411G= (p.Asp2471=) c.7390G= (p.Asp2464=) n.14288G= | |
5 | g.90791101G>T | CA360401242 | ADGRV1 | c.14272G>T (p.Asp4758Tyr) c.3226G>T (p.Asp1076Tyr) n.1539G>T n.38G>T c.901G>T (p.Asp301Tyr) c.265+114892G>T (n.265+114892G>T) c.682G>T (p.Asp228Tyr) c.1255G>T (p.Asp419Tyr) n.14285G>T c.14269G>T (p.Asp4757Tyr) c.14191G>T (p.Asp4731Tyr) c.11575G>T (p.Asp3859Tyr) c.14293G>T (p.Asp4765Tyr) c.14290G>T (p.Asp4764Tyr) c.14212G>T (p.Asp4738Tyr) c.14197G>T (p.Asp4733Tyr) c.7411G>T (p.Asp2471Tyr) c.7390G>T (p.Asp2464Tyr) n.14288G>T | |
5 | g.90791102A>C | CA360401243 | ADGRV1 | c.14273A>C (p.Asp4758Ala) c.3227A>C (p.Asp1076Ala) n.1540A>C n.39A>C c.902A>C (p.Asp301Ala) c.265+114893A>C (n.265+114893A>C) c.683A>C (p.Asp228Ala) c.1256A>C (p.Asp419Ala) n.14286A>C c.14270A>C (p.Asp4757Ala) c.14192A>C (p.Asp4731Ala) c.11576A>C (p.Asp3859Ala) c.14294A>C (p.Asp4765Ala) c.14291A>C (p.Asp4764Ala) c.14213A>C (p.Asp4738Ala) c.14198A>C (p.Asp4733Ala) c.7412A>C (p.Asp2471Ala) c.7391A>C (p.Asp2464Ala) n.14289A>C | |
5 | g.90791102A>G | CA360401244 | ADGRV1 | c.14273A>G (p.Asp4758Gly) c.3227A>G (p.Asp1076Gly) n.1540A>G n.39A>G c.902A>G (p.Asp301Gly) c.265+114893A>G (n.265+114893A>G) c.683A>G (p.Asp228Gly) c.1256A>G (p.Asp419Gly) n.14286A>G c.14270A>G (p.Asp4757Gly) c.14192A>G (p.Asp4731Gly) c.11576A>G (p.Asp3859Gly) c.14294A>G (p.Asp4765Gly) c.14291A>G (p.Asp4764Gly) c.14213A>G (p.Asp4738Gly) c.14198A>G (p.Asp4733Gly) c.7412A>G (p.Asp2471Gly) c.7391A>G (p.Asp2464Gly) n.14289A>G | gnomAD v4 |
5 | g.90791102A>T | CA360401245 | ADGRV1 | c.14273A>T (p.Asp4758Val) c.3227A>T (p.Asp1076Val) n.1540A>T n.39A>T c.902A>T (p.Asp301Val) c.265+114893A>T (n.265+114893A>T) c.683A>T (p.Asp228Val) c.1256A>T (p.Asp419Val) n.14286A>T c.14270A>T (p.Asp4757Val) c.14192A>T (p.Asp4731Val) c.11576A>T (p.Asp3859Val) c.14294A>T (p.Asp4765Val) c.14291A>T (p.Asp4764Val) c.14213A>T (p.Asp4738Val) c.14198A>T (p.Asp4733Val) c.7412A>T (p.Asp2471Val) c.7391A>T (p.Asp2464Val) n.14289A>T | |
5 | g.90791103T>A | CA360401249 | ADGRV1 | c.14274T>A (p.Asp4758Glu) c.3228T>A (p.Asp1076Glu) n.1541T>A n.40T>A c.903T>A (p.Asp301Glu) c.265+114894T>A (n.265+114894T>A) c.684T>A (p.Asp228Glu) c.1257T>A (p.Asp419Glu) n.14287T>A c.14271T>A (p.Asp4757Glu) c.14193T>A (p.Asp4731Glu) c.11577T>A (p.Asp3859Glu) c.14295T>A (p.Asp4765Glu) c.14292T>A (p.Asp4764Glu) c.14214T>A (p.Asp4738Glu) c.14199T>A (p.Asp4733Glu) c.7413T>A (p.Asp2471Glu) c.7392T>A (p.Asp2464Glu) n.14290T>A | dbSNP |
5 | g.90791103T>C | CA445467509 | ADGRV1 | c.14274T>C (p.Asp4758=) c.3228T>C (p.Asp1076=) n.1541T>C n.40T>C c.903T>C (p.Asp301=) c.265+114894T>C (n.265+114894T>C) c.684T>C (p.Asp228=) c.1257T>C (p.Asp419=) n.14287T>C c.14271T>C (p.Asp4757=) c.14193T>C (p.Asp4731=) c.11577T>C (p.Asp3859=) c.14295T>C (p.Asp4765=) c.14292T>C (p.Asp4764=) c.14214T>C (p.Asp4738=) c.14199T>C (p.Asp4733=) c.7413T>C (p.Asp2471=) c.7392T>C (p.Asp2464=) n.14290T>C | |
5 | g.90791103T>G | CA360401252 | ADGRV1 | c.14274T>G (p.Asp4758Glu) c.3228T>G (p.Asp1076Glu) n.1541T>G n.40T>G c.903T>G (p.Asp301Glu) c.265+114894T>G (n.265+114894T>G) c.684T>G (p.Asp228Glu) c.1257T>G (p.Asp419Glu) n.14287T>G c.14271T>G (p.Asp4757Glu) c.14193T>G (p.Asp4731Glu) c.11577T>G (p.Asp3859Glu) c.14295T>G (p.Asp4765Glu) c.14292T>G (p.Asp4764Glu) c.14214T>G (p.Asp4738Glu) c.14199T>G (p.Asp4733Glu) c.7413T>G (p.Asp2471Glu) c.7392T>G (p.Asp2464Glu) n.14290T>G | |
5 | g.90791103T= | CA1562902244 | ADGRV1 | c.14274T= (p.Asp4758=) c.3228T= (p.Asp1076=) n.1541T= n.40T= c.903T= (p.Asp301=) c.265+114894T= (n.265+114894T=) c.684T= (p.Asp228=) c.1257T= (p.Asp419=) n.14287T= c.14271T= (p.Asp4757=) c.14193T= (p.Asp4731=) c.11577T= (p.Asp3859=) c.14295T= (p.Asp4765=) c.14292T= (p.Asp4764=) c.14214T= (p.Asp4738=) c.14199T= (p.Asp4733=) c.7413T= (p.Asp2471=) c.7392T= (p.Asp2464=) n.14290T= | |
5 | g.90791104G>A | CA360401256 | ADGRV1 | c.14275G>A (p.Asp4759Asn) c.3229G>A (p.Asp1077Asn) n.1542G>A n.41G>A c.904G>A (p.Asp302Asn) c.265+114895G>A (n.265+114895G>A) c.685G>A (p.Asp229Asn) c.1258G>A (p.Asp420Asn) n.14288G>A c.14272G>A (p.Asp4758Asn) c.14194G>A (p.Asp4732Asn) c.11578G>A (p.Asp3860Asn) c.14296G>A (p.Asp4766Asn) c.14293G>A (p.Asp4765Asn) c.14215G>A (p.Asp4739Asn) c.14200G>A (p.Asp4734Asn) c.7414G>A (p.Asp2472Asn) c.7393G>A (p.Asp2465Asn) n.14291G>A | |
5 | g.90791104G>C | CA360401258 | ADGRV1 | c.14275G>C (p.Asp4759His) c.3229G>C (p.Asp1077His) n.1542G>C n.41G>C c.904G>C (p.Asp302His) c.265+114895G>C (n.265+114895G>C) c.685G>C (p.Asp229His) c.1258G>C (p.Asp420His) n.14288G>C c.14272G>C (p.Asp4758His) c.14194G>C (p.Asp4732His) c.11578G>C (p.Asp3860His) c.14296G>C (p.Asp4766His) c.14293G>C (p.Asp4765His) c.14215G>C (p.Asp4739His) c.14200G>C (p.Asp4734His) c.7414G>C (p.Asp2472His) c.7393G>C (p.Asp2465His) n.14291G>C | |
5 | g.90791104G>T | CA360401254 | ADGRV1 | c.14275G>T (p.Asp4759Tyr) c.3229G>T (p.Asp1077Tyr) n.1542G>T n.41G>T c.904G>T (p.Asp302Tyr) c.265+114895G>T (n.265+114895G>T) c.685G>T (p.Asp229Tyr) c.1258G>T (p.Asp420Tyr) n.14288G>T c.14272G>T (p.Asp4758Tyr) c.14194G>T (p.Asp4732Tyr) c.11578G>T (p.Asp3860Tyr) c.14296G>T (p.Asp4766Tyr) c.14293G>T (p.Asp4765Tyr) c.14215G>T (p.Asp4739Tyr) c.14200G>T (p.Asp4734Tyr) c.7414G>T (p.Asp2472Tyr) c.7393G>T (p.Asp2465Tyr) n.14291G>T | |
5 | g.90791105A>C | CA360401260 | ADGRV1 | c.14276A>C (p.Asp4759Ala) c.3230A>C (p.Asp1077Ala) n.1543A>C n.42A>C c.905A>C (p.Asp302Ala) c.265+114896A>C (n.265+114896A>C) c.686A>C (p.Asp229Ala) c.1259A>C (p.Asp420Ala) n.14289A>C c.14273A>C (p.Asp4758Ala) c.14195A>C (p.Asp4732Ala) c.11579A>C (p.Asp3860Ala) c.14297A>C (p.Asp4766Ala) c.14294A>C (p.Asp4765Ala) c.14216A>C (p.Asp4739Ala) c.14201A>C (p.Asp4734Ala) c.7415A>C (p.Asp2472Ala) c.7394A>C (p.Asp2465Ala) n.14292A>C | |
5 | g.90791105A>G | CA360401262 | ADGRV1 | c.14276A>G (p.Asp4759Gly) c.3230A>G (p.Asp1077Gly) n.1543A>G n.42A>G c.905A>G (p.Asp302Gly) c.265+114896A>G (n.265+114896A>G) c.686A>G (p.Asp229Gly) c.1259A>G (p.Asp420Gly) n.14289A>G c.14273A>G (p.Asp4758Gly) c.14195A>G (p.Asp4732Gly) c.11579A>G (p.Asp3860Gly) c.14297A>G (p.Asp4766Gly) c.14294A>G (p.Asp4765Gly) c.14216A>G (p.Asp4739Gly) c.14201A>G (p.Asp4734Gly) c.7415A>G (p.Asp2472Gly) c.7394A>G (p.Asp2465Gly) n.14292A>G | COSMIC |
5 | g.90791105A>T | CA360401270 | ADGRV1 | c.14276A>T (p.Asp4759Val) c.3230A>T (p.Asp1077Val) n.1543A>T n.42A>T c.905A>T (p.Asp302Val) c.265+114896A>T (n.265+114896A>T) c.686A>T (p.Asp229Val) c.1259A>T (p.Asp420Val) n.14289A>T c.14273A>T (p.Asp4758Val) c.14195A>T (p.Asp4732Val) c.11579A>T (p.Asp3860Val) c.14297A>T (p.Asp4766Val) c.14294A>T (p.Asp4765Val) c.14216A>T (p.Asp4739Val) c.14201A>T (p.Asp4734Val) c.7415A>T (p.Asp2472Val) c.7394A>T (p.Asp2465Val) n.14292A>T | |
5 | g.90791106C>A | CA360401272 | ADGRV1 | c.14277C>A (p.Asp4759Glu) c.3231C>A (p.Asp1077Glu) n.1544C>A n.43C>A c.906C>A (p.Asp302Glu) c.265+114897C>A (n.265+114897C>A) c.687C>A (p.Asp229Glu) c.1260C>A (p.Asp420Glu) n.14290C>A c.14274C>A (p.Asp4758Glu) c.14196C>A (p.Asp4732Glu) c.11580C>A (p.Asp3860Glu) c.14298C>A (p.Asp4766Glu) c.14295C>A (p.Asp4765Glu) c.14217C>A (p.Asp4739Glu) c.14202C>A (p.Asp4734Glu) c.7416C>A (p.Asp2472Glu) c.7395C>A (p.Asp2465Glu) n.14293C>A | dbSNP gnomAD v4 |
5 | g.90791106C= | CA1562902245 | ADGRV1 | c.14277C= (p.Asp4759=) c.3231C= (p.Asp1077=) n.1544C= n.43C= c.906C= (p.Asp302=) c.265+114897C= (n.265+114897C=) c.687C= (p.Asp229=) c.1260C= (p.Asp420=) n.14290C= c.14274C= (p.Asp4758=) c.14196C= (p.Asp4732=) c.11580C= (p.Asp3860=) c.14298C= (p.Asp4766=) c.14295C= (p.Asp4765=) c.14217C= (p.Asp4739=) c.14202C= (p.Asp4734=) c.7416C= (p.Asp2472=) c.7395C= (p.Asp2465=) n.14293C= | |
5 | g.90791106C>G | CA360401274 | ADGRV1 | c.14277C>G (p.Asp4759Glu) c.3231C>G (p.Asp1077Glu) n.1544C>G n.43C>G c.906C>G (p.Asp302Glu) c.265+114897C>G (n.265+114897C>G) c.687C>G (p.Asp229Glu) c.1260C>G (p.Asp420Glu) n.14290C>G c.14274C>G (p.Asp4758Glu) c.14196C>G (p.Asp4732Glu) c.11580C>G (p.Asp3860Glu) c.14298C>G (p.Asp4766Glu) c.14295C>G (p.Asp4765Glu) c.14217C>G (p.Asp4739Glu) c.14202C>G (p.Asp4734Glu) c.7416C>G (p.Asp2472Glu) c.7395C>G (p.Asp2465Glu) n.14293C>G | |
5 | g.90791106C>T | CA445467513 | ADGRV1 | c.14277C>T (p.Asp4759=) c.3231C>T (p.Asp1077=) n.1544C>T n.43C>T c.906C>T (p.Asp302=) c.265+114897C>T (n.265+114897C>T) c.687C>T (p.Asp229=) c.1260C>T (p.Asp420=) n.14290C>T c.14274C>T (p.Asp4758=) c.14196C>T (p.Asp4732=) c.11580C>T (p.Asp3860=) c.14298C>T (p.Asp4766=) c.14295C>T (p.Asp4765=) c.14217C>T (p.Asp4739=) c.14202C>T (p.Asp4734=) c.7416C>T (p.Asp2472=) c.7395C>T (p.Asp2465=) n.14293C>T | |
5 | g.90791107C>A | CA360401279 | ADGRV1 | c.14278C>A (p.Pro4760Thr) c.3232C>A (p.Pro1078Thr) n.1545C>A n.44C>A c.907C>A (p.Pro303Thr) c.265+114898C>A (n.265+114898C>A) c.688C>A (p.Pro230Thr) c.1261C>A (p.Pro421Thr) n.14291C>A c.14275C>A (p.Pro4759Thr) c.14197C>A (p.Pro4733Thr) c.11581C>A (p.Pro3861Thr) c.14299C>A (p.Pro4767Thr) c.14296C>A (p.Pro4766Thr) c.14218C>A (p.Pro4740Thr) c.14203C>A (p.Pro4735Thr) c.7417C>A (p.Pro2473Thr) c.7396C>A (p.Pro2466Thr) n.14294C>A | |
5 | g.90791107C>G | CA360401277 | ADGRV1 | c.14278C>G (p.Pro4760Ala) c.3232C>G (p.Pro1078Ala) n.1545C>G n.44C>G c.907C>G (p.Pro303Ala) c.265+114898C>G (n.265+114898C>G) c.688C>G (p.Pro230Ala) c.1261C>G (p.Pro421Ala) n.14291C>G c.14275C>G (p.Pro4759Ala) c.14197C>G (p.Pro4733Ala) c.11581C>G (p.Pro3861Ala) c.14299C>G (p.Pro4767Ala) c.14296C>G (p.Pro4766Ala) c.14218C>G (p.Pro4740Ala) c.14203C>G (p.Pro4735Ala) c.7417C>G (p.Pro2473Ala) c.7396C>G (p.Pro2466Ala) n.14294C>G | |
5 | g.90791107C>T | CA360401276 | ADGRV1 | c.14278C>T (p.Pro4760Ser) c.3232C>T (p.Pro1078Ser) n.1545C>T n.44C>T c.907C>T (p.Pro303Ser) c.265+114898C>T (n.265+114898C>T) c.688C>T (p.Pro230Ser) c.1261C>T (p.Pro421Ser) n.14291C>T c.14275C>T (p.Pro4759Ser) c.14197C>T (p.Pro4733Ser) c.11581C>T (p.Pro3861Ser) c.14299C>T (p.Pro4767Ser) c.14296C>T (p.Pro4766Ser) c.14218C>T (p.Pro4740Ser) c.14203C>T (p.Pro4735Ser) c.7417C>T (p.Pro2473Ser) c.7396C>T (p.Pro2466Ser) n.14294C>T | |
5 | g.90791108C>A | CA360401281 | ADGRV1 | c.14279C>A (p.Pro4760Gln) c.3233C>A (p.Pro1078Gln) n.1546C>A n.45C>A c.908C>A (p.Pro303Gln) c.265+114899C>A (n.265+114899C>A) c.689C>A (p.Pro230Gln) c.1262C>A (p.Pro421Gln) n.14292C>A c.14276C>A (p.Pro4759Gln) c.14198C>A (p.Pro4733Gln) c.11582C>A (p.Pro3861Gln) c.14300C>A (p.Pro4767Gln) c.14297C>A (p.Pro4766Gln) c.14219C>A (p.Pro4740Gln) c.14204C>A (p.Pro4735Gln) c.7418C>A (p.Pro2473Gln) c.7397C>A (p.Pro2466Gln) n.14295C>A | |
5 | g.90791108C>G | CA360401282 | ADGRV1 | c.14279C>G (p.Pro4760Arg) c.3233C>G (p.Pro1078Arg) n.1546C>G n.45C>G c.908C>G (p.Pro303Arg) c.265+114899C>G (n.265+114899C>G) c.689C>G (p.Pro230Arg) c.1262C>G (p.Pro421Arg) n.14292C>G c.14276C>G (p.Pro4759Arg) c.14198C>G (p.Pro4733Arg) c.11582C>G (p.Pro3861Arg) c.14300C>G (p.Pro4767Arg) c.14297C>G (p.Pro4766Arg) c.14219C>G (p.Pro4740Arg) c.14204C>G (p.Pro4735Arg) c.7418C>G (p.Pro2473Arg) c.7397C>G (p.Pro2466Arg) n.14295C>G | |
5 | g.90791108C>T | CA360401283 | ADGRV1 | c.14279C>T (p.Pro4760Leu) c.3233C>T (p.Pro1078Leu) n.1546C>T n.45C>T c.908C>T (p.Pro303Leu) c.265+114899C>T (n.265+114899C>T) c.689C>T (p.Pro230Leu) c.1262C>T (p.Pro421Leu) n.14292C>T c.14276C>T (p.Pro4759Leu) c.14198C>T (p.Pro4733Leu) c.11582C>T (p.Pro3861Leu) c.14300C>T (p.Pro4767Leu) c.14297C>T (p.Pro4766Leu) c.14219C>T (p.Pro4740Leu) c.14204C>T (p.Pro4735Leu) c.7418C>T (p.Pro2473Leu) c.7397C>T (p.Pro2466Leu) n.14295C>T | |
5 | g.90791109A>C | CA445467514 | ADGRV1 | c.14280A>C (p.Pro4760=) c.3234A>C (p.Pro1078=) n.1547A>C n.46A>C c.909A>C (p.Pro303=) c.265+114900A>C (n.265+114900A>C) c.690A>C (p.Pro230=) c.1263A>C (p.Pro421=) n.14293A>C c.14277A>C (p.Pro4759=) c.14199A>C (p.Pro4733=) c.11583A>C (p.Pro3861=) c.14301A>C (p.Pro4767=) c.14298A>C (p.Pro4766=) c.14220A>C (p.Pro4740=) c.14205A>C (p.Pro4735=) c.7419A>C (p.Pro2473=) c.7398A>C (p.Pro2466=) n.14296A>C |