UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 5 | g.90791109A>G | CA445467515 | ADGRV1 | c.14280A>G (p.Pro4760=) c.3234A>G (p.Pro1078=) n.1547A>G n.46A>G c.909A>G (p.Pro303=) c.265+114900A>G (n.265+114900A>G) c.690A>G (p.Pro230=) c.1263A>G (p.Pro421=) n.14293A>G c.14277A>G (p.Pro4759=) c.14199A>G (p.Pro4733=) c.11583A>G (p.Pro3861=) c.14301A>G (p.Pro4767=) c.14298A>G (p.Pro4766=) c.14220A>G (p.Pro4740=) c.14205A>G (p.Pro4735=) c.7419A>G (p.Pro2473=) c.7398A>G (p.Pro2466=) n.14296A>G | |
| 5 | g.90791109A>T | CA445467516 | ADGRV1 | c.14280A>T (p.Pro4760=) c.3234A>T (p.Pro1078=) n.1547A>T n.46A>T c.909A>T (p.Pro303=) c.265+114900A>T (n.265+114900A>T) c.690A>T (p.Pro230=) c.1263A>T (p.Pro421=) n.14293A>T c.14277A>T (p.Pro4759=) c.14199A>T (p.Pro4733=) c.11583A>T (p.Pro3861=) c.14301A>T (p.Pro4767=) c.14298A>T (p.Pro4766=) c.14220A>T (p.Pro4740=) c.14205A>T (p.Pro4735=) c.7419A>T (p.Pro2473=) c.7398A>T (p.Pro2466=) n.14296A>T | |
| 5 | g.90791110C>A | CA360401286 | ADGRV1 | c.14281C>A (p.His4761Asn) c.3235C>A (p.His1079Asn) n.1548C>A n.47C>A c.910C>A (p.His304Asn) c.265+114901C>A (n.265+114901C>A) c.691C>A (p.His231Asn) c.1264C>A (p.His422Asn) n.14294C>A c.14278C>A (p.His4760Asn) c.14200C>A (p.His4734Asn) c.11584C>A (p.His3862Asn) c.14302C>A (p.His4768Asn) c.14299C>A (p.His4767Asn) c.14221C>A (p.His4741Asn) c.14206C>A (p.His4736Asn) c.7420C>A (p.His2474Asn) c.7399C>A (p.His2467Asn) n.14297C>A | |
| 5 | g.90791110C>G | CA360401288 | ADGRV1 | c.14281C>G (p.His4761Asp) c.3235C>G (p.His1079Asp) n.1548C>G n.47C>G c.910C>G (p.His304Asp) c.265+114901C>G (n.265+114901C>G) c.691C>G (p.His231Asp) c.1264C>G (p.His422Asp) n.14294C>G c.14278C>G (p.His4760Asp) c.14200C>G (p.His4734Asp) c.11584C>G (p.His3862Asp) c.14302C>G (p.His4768Asp) c.14299C>G (p.His4767Asp) c.14221C>G (p.His4741Asp) c.14206C>G (p.His4736Asp) c.7420C>G (p.His2474Asp) c.7399C>G (p.His2467Asp) n.14297C>G | |
| 5 | g.90791110C>T | CA360401293 | ADGRV1 | c.14281C>T (p.His4761Tyr) c.3235C>T (p.His1079Tyr) n.1548C>T n.47C>T c.910C>T (p.His304Tyr) c.265+114901C>T (n.265+114901C>T) c.691C>T (p.His231Tyr) c.1264C>T (p.His422Tyr) n.14294C>T c.14278C>T (p.His4760Tyr) c.14200C>T (p.His4734Tyr) c.11584C>T (p.His3862Tyr) c.14302C>T (p.His4768Tyr) c.14299C>T (p.His4767Tyr) c.14221C>T (p.His4741Tyr) c.14206C>T (p.His4736Tyr) c.7420C>T (p.His2474Tyr) c.7399C>T (p.His2467Tyr) n.14297C>T | |
| 5 | g.90791111A= | CA1562902246 | ADGRV1 | c.14282A= (p.His4761=) c.3236A= (p.His1079=) n.1549A= n.48A= c.911A= (p.His304=) c.265+114902A= (n.265+114902A=) c.692A= (p.His231=) c.1265A= (p.His422=) n.14295A= c.14279A= (p.His4760=) c.14201A= (p.His4734=) c.11585A= (p.His3862=) c.14303A= (p.His4768=) c.14300A= (p.His4767=) c.14222A= (p.His4741=) c.14207A= (p.His4736=) c.7421A= (p.His2474=) c.7400A= (p.His2467=) n.14298A= | |
| 5 | g.90791111A>C | CA360401295 | ADGRV1 | c.14282A>C (p.His4761Pro) c.3236A>C (p.His1079Pro) n.1549A>C n.48A>C c.911A>C (p.His304Pro) c.265+114902A>C (n.265+114902A>C) c.692A>C (p.His231Pro) c.1265A>C (p.His422Pro) n.14295A>C c.14279A>C (p.His4760Pro) c.14201A>C (p.His4734Pro) c.11585A>C (p.His3862Pro) c.14303A>C (p.His4768Pro) c.14300A>C (p.His4767Pro) c.14222A>C (p.His4741Pro) c.14207A>C (p.His4736Pro) c.7421A>C (p.His2474Pro) c.7400A>C (p.His2467Pro) n.14298A>C | |
| 5 | g.90791111A>G | CA360401298 | ADGRV1 | c.14282A>G (p.His4761Arg) c.3236A>G (p.His1079Arg) n.1549A>G n.48A>G c.911A>G (p.His304Arg) c.265+114902A>G (n.265+114902A>G) c.692A>G (p.His231Arg) c.1265A>G (p.His422Arg) n.14295A>G c.14279A>G (p.His4760Arg) c.14201A>G (p.His4734Arg) c.11585A>G (p.His3862Arg) c.14303A>G (p.His4768Arg) c.14300A>G (p.His4767Arg) c.14222A>G (p.His4741Arg) c.14207A>G (p.His4736Arg) c.7421A>G (p.His2474Arg) c.7400A>G (p.His2467Arg) n.14298A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90791111A>T | CA360401297 | ADGRV1 | c.14282A>T (p.His4761Leu) c.3236A>T (p.His1079Leu) n.1549A>T n.48A>T c.911A>T (p.His304Leu) c.265+114902A>T (n.265+114902A>T) c.692A>T (p.His231Leu) c.1265A>T (p.His422Leu) n.14295A>T c.14279A>T (p.His4760Leu) c.14201A>T (p.His4734Leu) c.11585A>T (p.His3862Leu) c.14303A>T (p.His4768Leu) c.14300A>T (p.His4767Leu) c.14222A>T (p.His4741Leu) c.14207A>T (p.His4736Leu) c.7421A>T (p.His2474Leu) c.7400A>T (p.His2467Leu) n.14298A>T | |
| 5 | g.90791112T>A | CA360401300 | ADGRV1 | c.14283T>A (p.His4761Gln) c.3237T>A (p.His1079Gln) n.1550T>A n.49T>A c.912T>A (p.His304Gln) c.265+114903T>A (n.265+114903T>A) c.693T>A (p.His231Gln) c.1266T>A (p.His422Gln) n.14296T>A c.14280T>A (p.His4760Gln) c.14202T>A (p.His4734Gln) c.11586T>A (p.His3862Gln) c.14304T>A (p.His4768Gln) c.14301T>A (p.His4767Gln) c.14223T>A (p.His4741Gln) c.14208T>A (p.His4736Gln) c.7422T>A (p.His2474Gln) c.7401T>A (p.His2467Gln) n.14299T>A | |
| 5 | g.90791112T>C | CA445467518 | ADGRV1 | c.14283T>C (p.His4761=) c.3237T>C (p.His1079=) n.1550T>C n.49T>C c.912T>C (p.His304=) c.265+114903T>C (n.265+114903T>C) c.693T>C (p.His231=) c.1266T>C (p.His422=) n.14296T>C c.14280T>C (p.His4760=) c.14202T>C (p.His4734=) c.11586T>C (p.His3862=) c.14304T>C (p.His4768=) c.14301T>C (p.His4767=) c.14223T>C (p.His4741=) c.14208T>C (p.His4736=) c.7422T>C (p.His2474=) c.7401T>C (p.His2467=) n.14299T>C | |
| 5 | g.90791112T>G | CA360401301 | ADGRV1 | c.14283T>G (p.His4761Gln) c.3237T>G (p.His1079Gln) n.1550T>G n.49T>G c.912T>G (p.His304Gln) c.265+114903T>G (n.265+114903T>G) c.693T>G (p.His231Gln) c.1266T>G (p.His422Gln) n.14296T>G c.14280T>G (p.His4760Gln) c.14202T>G (p.His4734Gln) c.11586T>G (p.His3862Gln) c.14304T>G (p.His4768Gln) c.14301T>G (p.His4767Gln) c.14223T>G (p.His4741Gln) c.14208T>G (p.His4736Gln) c.7422T>G (p.His2474Gln) c.7401T>G (p.His2467Gln) n.14299T>G | |
| 5 | g.90791113G>A | CA360401304 | ADGRV1 | c.14284G>A (p.Gly4762Arg) c.3238G>A (p.Gly1080Arg) n.1551G>A n.50G>A c.913G>A (p.Gly305Arg) c.265+114904G>A (n.265+114904G>A) c.694G>A (p.Gly232Arg) c.1267G>A (p.Gly423Arg) n.14297G>A c.14281G>A (p.Gly4761Arg) c.14203G>A (p.Gly4735Arg) c.11587G>A (p.Gly3863Arg) c.14305G>A (p.Gly4769Arg) c.14302G>A (p.Gly4768Arg) c.14224G>A (p.Gly4742Arg) c.14209G>A (p.Gly4737Arg) c.7423G>A (p.Gly2475Arg) c.7402G>A (p.Gly2468Arg) n.14300G>A | |
| 5 | g.90791113G>C | CA360401305 | ADGRV1 | c.14284G>C (p.Gly4762Arg) c.3238G>C (p.Gly1080Arg) n.1551G>C n.50G>C c.913G>C (p.Gly305Arg) c.265+114904G>C (n.265+114904G>C) c.694G>C (p.Gly232Arg) c.1267G>C (p.Gly423Arg) n.14297G>C c.14281G>C (p.Gly4761Arg) c.14203G>C (p.Gly4735Arg) c.11587G>C (p.Gly3863Arg) c.14305G>C (p.Gly4769Arg) c.14302G>C (p.Gly4768Arg) c.14224G>C (p.Gly4742Arg) c.14209G>C (p.Gly4737Arg) c.7423G>C (p.Gly2475Arg) c.7402G>C (p.Gly2468Arg) n.14300G>C | |
| 5 | g.90791113G>T | CA360401307 | ADGRV1 | c.14284G>T (p.Gly4762Ter) c.3238G>T (p.Gly1080Ter) n.1551G>T n.50G>T c.913G>T (p.Gly305Ter) c.265+114904G>T (n.265+114904G>T) c.694G>T (p.Gly232Ter) c.1267G>T (p.Gly423Ter) n.14297G>T c.14281G>T (p.Gly4761Ter) c.14203G>T (p.Gly4735Ter) c.11587G>T (p.Gly3863Ter) c.14305G>T (p.Gly4769Ter) c.14302G>T (p.Gly4768Ter) c.14224G>T (p.Gly4742Ter) c.14209G>T (p.Gly4737Ter) c.7423G>T (p.Gly2475Ter) c.7402G>T (p.Gly2468Ter) n.14300G>T | |
| 5 | g.90791114G>A | CA360401314 | ADGRV1 | c.14285G>A (p.Gly4762Glu) c.3239G>A (p.Gly1080Glu) n.1552G>A n.51G>A c.914G>A (p.Gly305Glu) c.265+114905G>A (n.265+114905G>A) c.695G>A (p.Gly232Glu) c.1268G>A (p.Gly423Glu) n.14298G>A c.14282G>A (p.Gly4761Glu) c.14204G>A (p.Gly4735Glu) c.11588G>A (p.Gly3863Glu) c.14306G>A (p.Gly4769Glu) c.14303G>A (p.Gly4768Glu) c.14225G>A (p.Gly4742Glu) c.14210G>A (p.Gly4737Glu) c.7424G>A (p.Gly2475Glu) c.7403G>A (p.Gly2468Glu) n.14301G>A | COSMIC |
| 5 | g.90791114G>C | CA360401315 | ADGRV1 | c.14285G>C (p.Gly4762Ala) c.3239G>C (p.Gly1080Ala) n.1552G>C n.51G>C c.914G>C (p.Gly305Ala) c.265+114905G>C (n.265+114905G>C) c.695G>C (p.Gly232Ala) c.1268G>C (p.Gly423Ala) n.14298G>C c.14282G>C (p.Gly4761Ala) c.14204G>C (p.Gly4735Ala) c.11588G>C (p.Gly3863Ala) c.14306G>C (p.Gly4769Ala) c.14303G>C (p.Gly4768Ala) c.14225G>C (p.Gly4742Ala) c.14210G>C (p.Gly4737Ala) c.7424G>C (p.Gly2475Ala) c.7403G>C (p.Gly2468Ala) n.14301G>C | |
| 5 | g.90791114G>T | CA360401317 | ADGRV1 | c.14285G>T (p.Gly4762Val) c.3239G>T (p.Gly1080Val) n.1552G>T n.51G>T c.914G>T (p.Gly305Val) c.265+114905G>T (n.265+114905G>T) c.695G>T (p.Gly232Val) c.1268G>T (p.Gly423Val) n.14298G>T c.14282G>T (p.Gly4761Val) c.14204G>T (p.Gly4735Val) c.11588G>T (p.Gly3863Val) c.14306G>T (p.Gly4769Val) c.14303G>T (p.Gly4768Val) c.14225G>T (p.Gly4742Val) c.14210G>T (p.Gly4737Val) c.7424G>T (p.Gly2475Val) c.7403G>T (p.Gly2468Val) n.14301G>T | |
| 5 | g.90791115A= | CA1562902247 | ADGRV1 | c.14286A= (p.Gly4762=) c.3240A= (p.Gly1080=) n.1553A= n.52A= c.915A= (p.Gly305=) c.265+114906A= (n.265+114906A=) c.696A= (p.Gly232=) c.1269A= (p.Gly423=) n.14299A= c.14283A= (p.Gly4761=) c.14205A= (p.Gly4735=) c.11589A= (p.Gly3863=) c.14307A= (p.Gly4769=) c.14304A= (p.Gly4768=) c.14226A= (p.Gly4742=) c.14211A= (p.Gly4737=) c.7425A= (p.Gly2475=) c.7404A= (p.Gly2468=) n.14302A= |