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.90703674del | CA2578359318 | ADGRV1 | c.8165del (p.Leu2722TyrfsTer5) c.265+27465del (n.265+27465del) n.3624del c.1972del n.1309del c.5456del (p.Leu1819TyrfsTer5) c.2894del c.862del n.8178del c.8162del (p.Leu2721TyrfsTer5) c.8084del (p.Leu2695TyrfsTer5) c.5468del (p.Leu1823TyrfsTer5) c.8069del (p.Leu2690TyrfsTer5) c.1283del (p.Leu428TyrfsTer5) n.8181del | |
| 5 | g.90703674T>A | CA360388634 | ADGRV1 | c.8165T>A (p.Leu2722Ter) c.265+27465T>A (n.265+27465T>A) n.3624T>A c.1972T>A n.1309T>A c.5456T>A (p.Leu1819Ter) c.2894T>A c.862T>A n.8178T>A c.8162T>A (p.Leu2721Ter) c.8084T>A (p.Leu2695Ter) c.5468T>A (p.Leu1823Ter) c.8069T>A (p.Leu2690Ter) c.1283T>A (p.Leu428Ter) n.8181T>A | |
| 5 | g.90703674T>C | CA360388635 | ADGRV1 | c.8165T>C (p.Leu2722Ser) c.265+27465T>C (n.265+27465T>C) n.3624T>C c.1972T>C n.1309T>C c.5456T>C (p.Leu1819Ser) c.2894T>C c.862T>C n.8178T>C c.8162T>C (p.Leu2721Ser) c.8084T>C (p.Leu2695Ser) c.5468T>C (p.Leu1823Ser) c.8069T>C (p.Leu2690Ser) c.1283T>C (p.Leu428Ser) n.8181T>C | |
| 5 | g.90703674T>G | CA360388637 | ADGRV1 | c.8165T>G (p.Leu2722Ter) c.265+27465T>G (n.265+27465T>G) n.3624T>G c.1972T>G n.1309T>G c.5456T>G (p.Leu1819Ter) c.2894T>G c.862T>G n.8178T>G c.8162T>G (p.Leu2721Ter) c.8084T>G (p.Leu2695Ter) c.5468T>G (p.Leu1823Ter) c.8069T>G (p.Leu2690Ter) c.1283T>G (p.Leu428Ter) n.8181T>G | |
| 5 | g.90703675A= | CA1562863856 | ADGRV1 | c.8166A= (p.Leu2722=) c.265+27466A= (n.265+27466A=) n.3625A= c.1973A= n.1310A= c.5457A= (p.Leu1819=) c.2895A= c.863A= n.8179A= c.8163A= (p.Leu2721=) c.8085A= (p.Leu2695=) c.5469A= (p.Leu1823=) c.8070A= (p.Leu2690=) c.1284A= (p.Leu428=) n.8182A= | |
| 5 | g.90703675A>C | CA360388641 | ADGRV1 | c.8166A>C (p.Leu2722Phe) c.265+27466A>C (n.265+27466A>C) n.3625A>C c.1973A>C n.1310A>C c.5457A>C (p.Leu1819Phe) c.2895A>C c.863A>C n.8179A>C c.8163A>C (p.Leu2721Phe) c.8085A>C (p.Leu2695Phe) c.5469A>C (p.Leu1823Phe) c.8070A>C (p.Leu2690Phe) c.1284A>C (p.Leu428Phe) n.8182A>C | |
| 5 | g.90703675A>G | CA445406255 | ADGRV1 | c.8166A>G (p.Leu2722=) c.265+27466A>G (n.265+27466A>G) n.3625A>G c.1973A>G n.1310A>G c.5457A>G (p.Leu1819=) c.2895A>G c.863A>G n.8179A>G c.8163A>G (p.Leu2721=) c.8085A>G (p.Leu2695=) c.5469A>G (p.Leu1823=) c.8070A>G (p.Leu2690=) c.1284A>G (p.Leu428=) n.8182A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90703675A>T | CA360388645 | ADGRV1 | c.8166A>T (p.Leu2722Phe) c.265+27466A>T (n.265+27466A>T) n.3625A>T c.1973A>T n.1310A>T c.5457A>T (p.Leu1819Phe) c.2895A>T c.863A>T n.8179A>T c.8163A>T (p.Leu2721Phe) c.8085A>T (p.Leu2695Phe) c.5469A>T (p.Leu1823Phe) c.8070A>T (p.Leu2690Phe) c.1284A>T (p.Leu428Phe) n.8182A>T | |
| 5 | g.90703676del | CA2499218001 | ADGRV1 | c.8167del (p.Gln2723AsnfsTer4) c.265+27467del (n.265+27467del) n.3626del c.1974del n.1311del c.5458del (p.Gln1820AsnfsTer4) c.2896del c.864del n.8180del c.8164del (p.Gln2722AsnfsTer4) c.8086del (p.Gln2696AsnfsTer4) c.5470del (p.Gln1824AsnfsTer4) c.8071del (p.Gln2691AsnfsTer4) c.1285del (p.Gln429AsnfsTer4) n.8183del | ClinVar dbSNP |
| 5 | g.90703676C>A | CA360388649 | ADGRV1 | c.8167C>A (p.Gln2723Lys) c.265+27467C>A (n.265+27467C>A) n.3626C>A c.1974C>A n.1311C>A c.5458C>A (p.Gln1820Lys) c.2896C>A c.864C>A n.8180C>A c.8164C>A (p.Gln2722Lys) c.8086C>A (p.Gln2696Lys) c.5470C>A (p.Gln1824Lys) c.8071C>A (p.Gln2691Lys) c.1285C>A (p.Gln429Lys) n.8183C>A | |
| 5 | g.90703676C= | CA1562863857 | ADGRV1 | c.8167C= (p.Gln2723=) c.265+27467C= (n.265+27467C=) n.3626C= c.1974C= n.1311C= c.5458C= (p.Gln1820=) c.2896C= c.864C= n.8180C= c.8164C= (p.Gln2722=) c.8086C= (p.Gln2696=) c.5470C= (p.Gln1824=) c.8071C= (p.Gln2691=) c.1285C= (p.Gln429=) n.8183C= | |
| 5 | g.90703676C>G | CA3340185 | ADGRV1 | c.8167C>G (p.Gln2723Glu) c.265+27467C>G (n.265+27467C>G) n.3626C>G c.1974C>G n.1311C>G c.5458C>G (p.Gln1820Glu) c.2896C>G c.864C>G n.8180C>G c.8164C>G (p.Gln2722Glu) c.8086C>G (p.Gln2696Glu) c.5470C>G (p.Gln1824Glu) c.8071C>G (p.Gln2691Glu) c.1285C>G (p.Gln429Glu) n.8183C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90703676C>T | CA360388658 | ADGRV1 | c.8167C>T (p.Gln2723Ter) c.265+27467C>T (n.265+27467C>T) n.3626C>T c.1974C>T n.1311C>T c.5458C>T (p.Gln1820Ter) c.2896C>T c.864C>T n.8180C>T c.8164C>T (p.Gln2722Ter) c.8086C>T (p.Gln2696Ter) c.5470C>T (p.Gln1824Ter) c.8071C>T (p.Gln2691Ter) c.1285C>T (p.Gln429Ter) n.8183C>T | gnomAD v4 |
| 5 | g.90703677A= | CA1562863858 | ADGRV1 | c.8168A= (p.Gln2723=) c.265+27468A= (n.265+27468A=) n.3627A= c.1975A= n.1312A= c.5459A= (p.Gln1820=) c.2897A= c.865A= n.8181A= c.8165A= (p.Gln2722=) c.8087A= (p.Gln2696=) c.5471A= (p.Gln1824=) c.8072A= (p.Gln2691=) c.1286A= (p.Gln429=) n.8184A= | |
| 5 | g.90703677A>C | CA360388667 | ADGRV1 | c.8168A>C (p.Gln2723Pro) c.265+27468A>C (n.265+27468A>C) n.3627A>C c.1975A>C n.1312A>C c.5459A>C (p.Gln1820Pro) c.2897A>C c.865A>C n.8181A>C c.8165A>C (p.Gln2722Pro) c.8087A>C (p.Gln2696Pro) c.5471A>C (p.Gln1824Pro) c.8072A>C (p.Gln2691Pro) c.1286A>C (p.Gln429Pro) n.8184A>C | |
| 5 | g.90703677A>G | CA360388669 | ADGRV1 | c.8168A>G (p.Gln2723Arg) c.265+27468A>G (n.265+27468A>G) n.3627A>G c.1975A>G n.1312A>G c.5459A>G (p.Gln1820Arg) c.2897A>G c.865A>G n.8181A>G c.8165A>G (p.Gln2722Arg) c.8087A>G (p.Gln2696Arg) c.5471A>G (p.Gln1824Arg) c.8072A>G (p.Gln2691Arg) c.1286A>G (p.Gln429Arg) n.8184A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90703677A>T | CA360388672 | ADGRV1 | c.8168A>T (p.Gln2723Leu) c.265+27468A>T (n.265+27468A>T) n.3627A>T c.1975A>T n.1312A>T c.5459A>T (p.Gln1820Leu) c.2897A>T c.865A>T n.8181A>T c.8165A>T (p.Gln2722Leu) c.8087A>T (p.Gln2696Leu) c.5471A>T (p.Gln1824Leu) c.8072A>T (p.Gln2691Leu) c.1286A>T (p.Gln429Leu) n.8184A>T | |
| 5 | g.90703678A= | CA1562863859 | ADGRV1 | c.8169A= (p.Gln2723=) c.265+27469A= (n.265+27469A=) n.3628A= c.1976A= n.1313A= c.5460A= (p.Gln1820=) c.2898A= c.866A= n.8182A= c.8166A= (p.Gln2722=) c.8088A= (p.Gln2696=) c.5472A= (p.Gln1824=) c.8073A= (p.Gln2691=) c.1287A= (p.Gln429=) n.8185A= | |
| 5 | g.90703678A>C | CA360388677 | ADGRV1 | c.8169A>C (p.Gln2723His) c.265+27469A>C (n.265+27469A>C) n.3628A>C c.1976A>C n.1313A>C c.5460A>C (p.Gln1820His) c.2898A>C c.866A>C n.8182A>C c.8166A>C (p.Gln2722His) c.8088A>C (p.Gln2696His) c.5472A>C (p.Gln1824His) c.8073A>C (p.Gln2691His) c.1287A>C (p.Gln429His) n.8185A>C | |
| 5 | g.90703678A>G | CA122802247 | ADGRV1 | c.8169A>G (p.Gln2723=) c.265+27469A>G (n.265+27469A>G) n.3628A>G c.1976A>G n.1313A>G c.5460A>G (p.Gln1820=) c.2898A>G c.866A>G n.8182A>G c.8166A>G (p.Gln2722=) c.8088A>G (p.Gln2696=) c.5472A>G (p.Gln1824=) c.8073A>G (p.Gln2691=) c.1287A>G (p.Gln429=) n.8185A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90703678A>T | CA360388682 | ADGRV1 | c.8169A>T (p.Gln2723His) c.265+27469A>T (n.265+27469A>T) n.3628A>T c.1976A>T n.1313A>T c.5460A>T (p.Gln1820His) c.2898A>T c.866A>T n.8182A>T c.8166A>T (p.Gln2722His) c.8088A>T (p.Gln2696His) c.5472A>T (p.Gln1824His) c.8073A>T (p.Gln2691His) c.1287A>T (p.Gln429His) n.8185A>T | |
| 5 | g.90703679T>A | CA360388701 | ADGRV1 | c.8170T>A (p.Phe2724Ile) c.265+27470T>A (n.265+27470T>A) n.3629T>A c.1977T>A n.1314T>A c.5461T>A (p.Phe1821Ile) c.2899T>A c.867T>A n.8183T>A c.8167T>A (p.Phe2723Ile) c.8089T>A (p.Phe2697Ile) c.5473T>A (p.Phe1825Ile) c.8074T>A (p.Phe2692Ile) c.1288T>A (p.Phe430Ile) n.8186T>A | |
| 5 | g.90703679T>C | CA360388696 | ADGRV1 | c.8170T>C (p.Phe2724Leu) c.265+27470T>C (n.265+27470T>C) n.3629T>C c.1977T>C n.1314T>C c.5461T>C (p.Phe1821Leu) c.2899T>C c.867T>C n.8183T>C c.8167T>C (p.Phe2723Leu) c.8089T>C (p.Phe2697Leu) c.5473T>C (p.Phe1825Leu) c.8074T>C (p.Phe2692Leu) c.1288T>C (p.Phe430Leu) n.8186T>C | |
| 5 | g.90703679T>G | CA360388692 | ADGRV1 | c.8170T>G (p.Phe2724Val) c.265+27470T>G (n.265+27470T>G) n.3629T>G c.1977T>G n.1314T>G c.5461T>G (p.Phe1821Val) c.2899T>G c.867T>G n.8183T>G c.8167T>G (p.Phe2723Val) c.8089T>G (p.Phe2697Val) c.5473T>G (p.Phe1825Val) c.8074T>G (p.Phe2692Val) c.1288T>G (p.Phe430Val) n.8186T>G | |
| 5 | g.90703680T>A | CA360388702 | ADGRV1 | c.8171T>A (p.Phe2724Tyr) c.265+27471T>A (n.265+27471T>A) n.3630T>A c.1978T>A n.1315T>A c.5462T>A (p.Phe1821Tyr) c.2900T>A c.868T>A n.8184T>A c.8168T>A (p.Phe2723Tyr) c.8090T>A (p.Phe2697Tyr) c.5474T>A (p.Phe1825Tyr) c.8075T>A (p.Phe2692Tyr) c.1289T>A (p.Phe430Tyr) n.8187T>A | |
| 5 | g.90703680T>C | CA360388703 | ADGRV1 | c.8171T>C (p.Phe2724Ser) c.265+27471T>C (n.265+27471T>C) n.3630T>C c.1978T>C n.1315T>C c.5462T>C (p.Phe1821Ser) c.2900T>C c.868T>C n.8184T>C c.8168T>C (p.Phe2723Ser) c.8090T>C (p.Phe2697Ser) c.5474T>C (p.Phe1825Ser) c.8075T>C (p.Phe2692Ser) c.1289T>C (p.Phe430Ser) n.8187T>C | |
| 5 | g.90703680T>G | CA360388705 | ADGRV1 | c.8171T>G (p.Phe2724Cys) c.265+27471T>G (n.265+27471T>G) n.3630T>G c.1978T>G n.1315T>G c.5462T>G (p.Phe1821Cys) c.2900T>G c.868T>G n.8184T>G c.8168T>G (p.Phe2723Cys) c.8090T>G (p.Phe2697Cys) c.5474T>G (p.Phe1825Cys) c.8075T>G (p.Phe2692Cys) c.1289T>G (p.Phe430Cys) n.8187T>G | |
| 5 | g.90703681C>A | CA3340187 | ADGRV1 | c.8172C>A (p.Phe2724Leu) c.265+27472C>A (n.265+27472C>A) n.3631C>A c.1979C>A n.1316C>A c.5463C>A (p.Phe1821Leu) c.2901C>A c.869C>A n.8185C>A c.8169C>A (p.Phe2723Leu) c.8091C>A (p.Phe2697Leu) c.5475C>A (p.Phe1825Leu) c.8076C>A (p.Phe2692Leu) c.1290C>A (p.Phe430Leu) n.8188C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90703681C= | CA1562863860 | ADGRV1 | c.8172C= (p.Phe2724=) c.265+27472C= (n.265+27472C=) n.3631C= c.1979C= n.1316C= c.5463C= (p.Phe1821=) c.2901C= c.869C= n.8185C= c.8169C= (p.Phe2723=) c.8091C= (p.Phe2697=) c.5475C= (p.Phe1825=) c.8076C= (p.Phe2692=) c.1290C= (p.Phe430=) n.8188C= | |
| 5 | g.90703681C>G | CA360388711 | ADGRV1 | c.8172C>G (p.Phe2724Leu) c.265+27472C>G (n.265+27472C>G) n.3631C>G c.1979C>G n.1316C>G c.5463C>G (p.Phe1821Leu) c.2901C>G c.869C>G n.8185C>G c.8169C>G (p.Phe2723Leu) c.8091C>G (p.Phe2697Leu) c.5475C>G (p.Phe1825Leu) c.8076C>G (p.Phe2692Leu) c.1290C>G (p.Phe430Leu) n.8188C>G | gnomAD v4 COSMIC |
| 5 | g.90703681C>T | CA3340186 | ADGRV1 | c.8172C>T (p.Phe2724=) c.265+27472C>T (n.265+27472C>T) n.3631C>T c.1979C>T n.1316C>T c.5463C>T (p.Phe1821=) c.2901C>T c.869C>T n.8185C>T c.8169C>T (p.Phe2723=) c.8091C>T (p.Phe2697=) c.5475C>T (p.Phe1825=) c.8076C>T (p.Phe2692=) c.1290C>T (p.Phe430=) n.8188C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90703682del | CA2674568794 | ADGRV1 | c.8173del (p.His2725MetfsTer2) c.265+27473del (n.265+27473del) n.3632del c.1980del n.1317del c.5464del (p.His1822MetfsTer2) c.2902del c.870del n.8186del c.8170del (p.His2724MetfsTer2) c.8092del (p.His2698MetfsTer2) c.5476del (p.His1826MetfsTer2) c.8077del (p.His2693MetfsTer2) c.1291del (p.His431MetfsTer2) n.8189del | gnomAD v4 |
| 5 | g.90703682C>A | CA360388719 | ADGRV1 | c.8173C>A (p.His2725Asn) c.265+27473C>A (n.265+27473C>A) n.3632C>A c.1980C>A n.1317C>A c.5464C>A (p.His1822Asn) c.2902C>A c.870C>A n.8186C>A c.8170C>A (p.His2724Asn) c.8092C>A (p.His2698Asn) c.5476C>A (p.His1826Asn) c.8077C>A (p.His2693Asn) c.1291C>A (p.His431Asn) n.8189C>A | |
| 5 | g.90703682C>G | CA360388722 | ADGRV1 | c.8173C>G (p.His2725Asp) c.265+27473C>G (n.265+27473C>G) n.3632C>G c.1980C>G n.1317C>G c.5464C>G (p.His1822Asp) c.2902C>G c.870C>G n.8186C>G c.8170C>G (p.His2724Asp) c.8092C>G (p.His2698Asp) c.5476C>G (p.His1826Asp) c.8077C>G (p.His2693Asp) c.1291C>G (p.His431Asp) n.8189C>G | |
| 5 | g.90703682C>T | CA360388725 | ADGRV1 | c.8173C>T (p.His2725Tyr) c.265+27473C>T (n.265+27473C>T) n.3632C>T c.1980C>T n.1317C>T c.5464C>T (p.His1822Tyr) c.2902C>T c.870C>T n.8186C>T c.8170C>T (p.His2724Tyr) c.8092C>T (p.His2698Tyr) c.5476C>T (p.His1826Tyr) c.8077C>T (p.His2693Tyr) c.1291C>T (p.His431Tyr) n.8189C>T | gnomAD v4 |
| 5 | g.90703683A= | CA1562863861 | ADGRV1 | c.8174A= (p.His2725=) c.265+27474A= (n.265+27474A=) n.3633A= c.1981A= n.1318A= c.5465A= (p.His1822=) c.2903A= c.871A= n.8187A= c.8171A= (p.His2724=) c.8093A= (p.His2698=) c.5477A= (p.His1826=) c.8078A= (p.His2693=) c.1292A= (p.His431=) n.8190A= | |
| 5 | g.90703683A>C | CA360388730 | ADGRV1 | c.8174A>C (p.His2725Pro) c.265+27474A>C (n.265+27474A>C) n.3633A>C c.1981A>C n.1318A>C c.5465A>C (p.His1822Pro) c.2903A>C c.871A>C n.8187A>C c.8171A>C (p.His2724Pro) c.8093A>C (p.His2698Pro) c.5477A>C (p.His1826Pro) c.8078A>C (p.His2693Pro) c.1292A>C (p.His431Pro) n.8190A>C | |
| 5 | g.90703683A>G | CA360388732 | ADGRV1 | c.8174A>G (p.His2725Arg) c.265+27474A>G (n.265+27474A>G) n.3633A>G c.1981A>G n.1318A>G c.5465A>G (p.His1822Arg) c.2903A>G c.871A>G n.8187A>G c.8171A>G (p.His2724Arg) c.8093A>G (p.His2698Arg) c.5477A>G (p.His1826Arg) c.8078A>G (p.His2693Arg) c.1292A>G (p.His431Arg) n.8190A>G | dbSNP gnomAD v4 |
| 5 | g.90703683A>T | CA360388734 | ADGRV1 | c.8174A>T (p.His2725Leu) c.265+27474A>T (n.265+27474A>T) n.3633A>T c.1981A>T n.1318A>T c.5465A>T (p.His1822Leu) c.2903A>T c.871A>T n.8187A>T c.8171A>T (p.His2724Leu) c.8093A>T (p.His2698Leu) c.5477A>T (p.His1826Leu) c.8078A>T (p.His2693Leu) c.1292A>T (p.His431Leu) n.8190A>T | |
| 5 | g.90703684T>A | CA360388739 | ADGRV1 | c.8175T>A (p.His2725Gln) c.265+27475T>A (n.265+27475T>A) n.3634T>A c.1982T>A n.1319T>A c.5466T>A (p.His1822Gln) c.2904T>A c.872T>A n.8188T>A c.8172T>A (p.His2724Gln) c.8094T>A (p.His2698Gln) c.5478T>A (p.His1826Gln) c.8079T>A (p.His2693Gln) c.1293T>A (p.His431Gln) n.8191T>A | gnomAD v4 |
| 5 | g.90703684T>C | CA445406260 | ADGRV1 | c.8175T>C (p.His2725=) c.265+27475T>C (n.265+27475T>C) n.3634T>C c.1982T>C n.1319T>C c.5466T>C (p.His1822=) c.2904T>C c.872T>C n.8188T>C c.8172T>C (p.His2724=) c.8094T>C (p.His2698=) c.5478T>C (p.His1826=) c.8079T>C (p.His2693=) c.1293T>C (p.His431=) n.8191T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90703684T>G | CA360388741 | ADGRV1 | c.8175T>G (p.His2725Gln) c.265+27475T>G (n.265+27475T>G) n.3634T>G c.1982T>G n.1319T>G c.5466T>G (p.His1822Gln) c.2904T>G c.872T>G n.8188T>G c.8172T>G (p.His2724Gln) c.8094T>G (p.His2698Gln) c.5478T>G (p.His1826Gln) c.8079T>G (p.His2693Gln) c.1293T>G (p.His431Gln) n.8191T>G | |
| 5 | g.90703684T= | CA1562863862 | ADGRV1 | c.8175T= (p.His2725=) c.265+27475T= (n.265+27475T=) n.3634T= c.1982T= n.1319T= c.5466T= (p.His1822=) c.2904T= c.872T= n.8188T= c.8172T= (p.His2724=) c.8094T= (p.His2698=) c.5478T= (p.His1826=) c.8079T= (p.His2693=) c.1293T= (p.His431=) n.8191T= | |
| 5 | g.90703685G>A | CA360388749 | ADGRV1 | c.8176G>A (p.Val2726Met) c.265+27476G>A (n.265+27476G>A) n.3635G>A c.1983G>A n.1320G>A c.5467G>A (p.Val1823Met) c.2905G>A c.873G>A n.8189G>A c.8173G>A (p.Val2725Met) c.8095G>A (p.Val2699Met) c.5479G>A (p.Val1827Met) c.8080G>A (p.Val2694Met) c.1294G>A (p.Val432Met) n.8192G>A | gnomAD v4 |
| 5 | g.90703685G>C | CA360388751 | ADGRV1 | c.8176G>C (p.Val2726Leu) c.265+27476G>C (n.265+27476G>C) n.3635G>C c.1983G>C n.1320G>C c.5467G>C (p.Val1823Leu) c.2905G>C c.873G>C n.8189G>C c.8173G>C (p.Val2725Leu) c.8095G>C (p.Val2699Leu) c.5479G>C (p.Val1827Leu) c.8080G>C (p.Val2694Leu) c.1294G>C (p.Val432Leu) n.8192G>C | |
| 5 | g.90703685G= | CA1562863863 | ADGRV1 | c.8176G= (p.Val2726=) c.265+27476G= (n.265+27476G=) n.3635G= c.1983G= n.1320G= c.5467G= (p.Val1823=) c.2905G= c.873G= n.8189G= c.8173G= (p.Val2725=) c.8095G= (p.Val2699=) c.5479G= (p.Val1827=) c.8080G= (p.Val2694=) c.1294G= (p.Val432=) n.8192G= | |
| 5 | g.90703685G>T | CA360388745 | ADGRV1 | c.8176G>T (p.Val2726Leu) c.265+27476G>T (n.265+27476G>T) n.3635G>T c.1983G>T n.1320G>T c.5467G>T (p.Val1823Leu) c.2905G>T c.873G>T n.8189G>T c.8173G>T (p.Val2725Leu) c.8095G>T (p.Val2699Leu) c.5479G>T (p.Val1827Leu) c.8080G>T (p.Val2694Leu) c.1294G>T (p.Val432Leu) n.8192G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90703686T>A | CA360388756 | ADGRV1 | c.8177T>A (p.Val2726Glu) c.265+27477T>A (n.265+27477T>A) n.3636T>A c.1984T>A n.1321T>A c.5468T>A (p.Val1823Glu) c.2906T>A c.874T>A n.8190T>A c.8174T>A (p.Val2725Glu) c.8096T>A (p.Val2699Glu) c.5480T>A (p.Val1827Glu) c.8081T>A (p.Val2694Glu) c.1295T>A (p.Val432Glu) n.8193T>A | |
| 5 | g.90703686T>C | CA360388758 | ADGRV1 | c.8177T>C (p.Val2726Ala) c.265+27477T>C (n.265+27477T>C) n.3636T>C c.1984T>C n.1321T>C c.5468T>C (p.Val1823Ala) c.2906T>C c.874T>C n.8190T>C c.8174T>C (p.Val2725Ala) c.8096T>C (p.Val2699Ala) c.5480T>C (p.Val1827Ala) c.8081T>C (p.Val2694Ala) c.1295T>C (p.Val432Ala) n.8193T>C | |
| 5 | g.90703686T>G | CA360388759 | ADGRV1 | c.8177T>G (p.Val2726Gly) c.265+27477T>G (n.265+27477T>G) n.3636T>G c.1984T>G n.1321T>G c.5468T>G (p.Val1823Gly) c.2906T>G c.874T>G n.8190T>G c.8174T>G (p.Val2725Gly) c.8096T>G (p.Val2699Gly) c.5480T>G (p.Val1827Gly) c.8081T>G (p.Val2694Gly) c.1295T>G (p.Val432Gly) n.8193T>G |