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.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 | |
| 5 | g.90703687G>A | CA445406261 | ADGRV1 | c.8178G>A (p.Val2726=) c.265+27478G>A (n.265+27478G>A) n.3637G>A c.1985G>A n.1322G>A c.5469G>A (p.Val1823=) c.2907G>A c.875G>A n.8191G>A c.8175G>A (p.Val2725=) c.8097G>A (p.Val2699=) c.5481G>A (p.Val1827=) c.8082G>A (p.Val2694=) c.1296G>A (p.Val432=) n.8194G>A | gnomAD v4 |
| 5 | g.90703687G>C | CA122802254 | ADGRV1 | c.8178G>C (p.Val2726=) c.265+27478G>C (n.265+27478G>C) n.3637G>C c.1985G>C n.1322G>C c.5469G>C (p.Val1823=) c.2907G>C c.875G>C n.8191G>C c.8175G>C (p.Val2725=) c.8097G>C (p.Val2699=) c.5481G>C (p.Val1827=) c.8082G>C (p.Val2694=) c.1296G>C (p.Val432=) n.8194G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.90703687G= | CA1562863864 | ADGRV1 | c.8178G= (p.Val2726=) c.265+27478G= (n.265+27478G=) n.3637G= c.1985G= n.1322G= c.5469G= (p.Val1823=) c.2907G= c.875G= n.8191G= c.8175G= (p.Val2725=) c.8097G= (p.Val2699=) c.5481G= (p.Val1827=) c.8082G= (p.Val2694=) c.1296G= (p.Val432=) n.8194G= | |
| 5 | g.90703687G>T | CA445406262 | ADGRV1 | c.8178G>T (p.Val2726=) c.265+27478G>T (n.265+27478G>T) n.3637G>T c.1985G>T n.1322G>T c.5469G>T (p.Val1823=) c.2907G>T c.875G>T n.8191G>T c.8175G>T (p.Val2725=) c.8097G>T (p.Val2699=) c.5481G>T (p.Val1827=) c.8082G>T (p.Val2694=) c.1296G>T (p.Val432=) n.8194G>T | |
| 5 | g.90703688A= | CA1562863865 | ADGRV1 | c.8179A= (p.Ile2727=) c.265+27479A= (n.265+27479A=) n.3638A= c.1986A= n.1323A= c.5470A= (p.Ile1824=) c.2908A= c.876A= n.8192A= c.8176A= (p.Ile2726=) c.8098A= (p.Ile2700=) c.5482A= (p.Ile1828=) c.8083A= (p.Ile2695=) c.1297A= (p.Ile433=) n.8195A= | |
| 5 | g.90703688A>C | CA360388762 | ADGRV1 | c.8179A>C (p.Ile2727Leu) c.265+27479A>C (n.265+27479A>C) n.3638A>C c.1986A>C n.1323A>C c.5470A>C (p.Ile1824Leu) c.2908A>C c.876A>C n.8192A>C c.8176A>C (p.Ile2726Leu) c.8098A>C (p.Ile2700Leu) c.5482A>C (p.Ile1828Leu) c.8083A>C (p.Ile2695Leu) c.1297A>C (p.Ile433Leu) n.8195A>C | |
| 5 | g.90703688A>G | CA360388768 | ADGRV1 | c.8179A>G (p.Ile2727Val) c.265+27479A>G (n.265+27479A>G) n.3638A>G c.1986A>G n.1323A>G c.5470A>G (p.Ile1824Val) c.2908A>G c.876A>G n.8192A>G c.8176A>G (p.Ile2726Val) c.8098A>G (p.Ile2700Val) c.5482A>G (p.Ile1828Val) c.8083A>G (p.Ile2695Val) c.1297A>G (p.Ile433Val) n.8195A>G | |
| 5 | g.90703688A>T | CA360388769 | ADGRV1 | c.8179A>T (p.Ile2727Leu) c.265+27479A>T (n.265+27479A>T) n.3638A>T c.1986A>T n.1323A>T c.5470A>T (p.Ile1824Leu) c.2908A>T c.876A>T n.8192A>T c.8176A>T (p.Ile2726Leu) c.8098A>T (p.Ile2700Leu) c.5482A>T (p.Ile1828Leu) c.8083A>T (p.Ile2695Leu) c.1297A>T (p.Ile433Leu) n.8195A>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90703689T>A | CA360388770 | ADGRV1 | c.8180T>A (p.Ile2727Lys) c.265+27480T>A (n.265+27480T>A) n.3639T>A c.1987T>A n.1324T>A c.5471T>A (p.Ile1824Lys) c.2909T>A c.877T>A n.8193T>A c.8177T>A (p.Ile2726Lys) c.8099T>A (p.Ile2700Lys) c.5483T>A (p.Ile1828Lys) c.8084T>A (p.Ile2695Lys) c.1298T>A (p.Ile433Lys) n.8196T>A | |
| 5 | g.90703689T>C | CA360388772 | ADGRV1 | c.8180T>C (p.Ile2727Thr) c.265+27480T>C (n.265+27480T>C) n.3639T>C c.1987T>C n.1324T>C c.5471T>C (p.Ile1824Thr) c.2909T>C c.877T>C n.8193T>C c.8177T>C (p.Ile2726Thr) c.8099T>C (p.Ile2700Thr) c.5483T>C (p.Ile1828Thr) c.8084T>C (p.Ile2695Thr) c.1298T>C (p.Ile433Thr) n.8196T>C | |
| 5 | g.90703689T>G | CA360388773 | ADGRV1 | c.8180T>G (p.Ile2727Arg) c.265+27480T>G (n.265+27480T>G) n.3639T>G c.1987T>G n.1324T>G c.5471T>G (p.Ile1824Arg) c.2909T>G c.877T>G n.8193T>G c.8177T>G (p.Ile2726Arg) c.8099T>G (p.Ile2700Arg) c.5483T>G (p.Ile1828Arg) c.8084T>G (p.Ile2695Arg) c.1298T>G (p.Ile433Arg) n.8196T>G | |
| 5 | g.90703689_90703692delinsTAAG | CA1562863866 | ADGRV1 | c.8180_8183delinsTAAG (p.Ile2727=) c.265+27480_265+27483delinsTAAG (n.265+27480_265+27483delinsTAAG) n.3639_3642delinsTAAG c.1987_1990delinsTAAG n.1324_1327delinsTAAG c.5471_5474delinsTAAG (p.Ile1824=) c.2909_2912delinsTAAG c.877_880delinsTAAG n.8193_8196delinsTAAG c.8177_8180delinsTAAG (p.Ile2726=) c.8099_8102delinsTAAG (p.Ile2700=) c.5483_5486delinsTAAG (p.Ile1828=) c.8084_8087delinsTAAG (p.Ile2695=) c.1298_1301delinsTAAG (p.Ile433=) n.8196_8199delinsTAAG | |
| 5 | g.90703690A>C | CA445406263 | ADGRV1 | c.8181A>C (p.Ile2727=) c.265+27481A>C (n.265+27481A>C) n.3640A>C c.1988A>C n.1325A>C c.5472A>C (p.Ile1824=) c.2910A>C c.878A>C n.8194A>C c.8178A>C (p.Ile2726=) c.8100A>C (p.Ile2700=) c.5484A>C (p.Ile1828=) c.8085A>C (p.Ile2695=) c.1299A>C (p.Ile433=) n.8197A>C | |
| 5 | g.90703690A>G | CA360388774 | ADGRV1 | c.8181A>G (p.Ile2727Met) c.265+27481A>G (n.265+27481A>G) n.3640A>G c.1988A>G n.1325A>G c.5472A>G (p.Ile1824Met) c.2910A>G c.878A>G n.8194A>G c.8178A>G (p.Ile2726Met) c.8100A>G (p.Ile2700Met) c.5484A>G (p.Ile1828Met) c.8085A>G (p.Ile2695Met) c.1299A>G (p.Ile433Met) n.8197A>G | gnomAD v4 |
| 5 | g.90703690A>T | CA445406264 | ADGRV1 | c.8181A>T (p.Ile2727=) c.265+27481A>T (n.265+27481A>T) n.3640A>T c.1988A>T n.1325A>T c.5472A>T (p.Ile1824=) c.2910A>T c.878A>T n.8194A>T c.8178A>T (p.Ile2726=) c.8100A>T (p.Ile2700=) c.5484A>T (p.Ile1828=) c.8085A>T (p.Ile2695=) c.1299A>T (p.Ile433=) n.8197A>T | |
| 5 | g.90703692_90703694del | CA560899280 | ADGRV1 | c.8183_8185del (p.Arg2728del) c.265+27483_265+27485del (n.265+27483_265+27485del) n.3642_3644del c.1990_1992del n.1327_1329del c.5474_5476del (p.Arg1825del) c.2912_2914del c.880_882del n.8196_8198del c.8180_8182del (p.Arg2727del) c.8102_8104del (p.Arg2701del) c.5486_5488del (p.Arg1829del) c.8087_8089del (p.Arg2696del) c.1301_1303del (p.Arg434del) n.8199_8201del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90703691A= | CA1562863867 | ADGRV1 | c.8182A= (p.Arg2728=) c.265+27482A= (n.265+27482A=) n.3641A= c.1989A= n.1326A= c.5473A= (p.Arg1825=) c.2911A= c.879A= n.8195A= c.8179A= (p.Arg2727=) c.8101A= (p.Arg2701=) c.5485A= (p.Arg1829=) c.8086A= (p.Arg2696=) c.1300A= (p.Arg434=) n.8198A= | |
| 5 | g.90703691A>C | CA445406265 | ADGRV1 | c.8182A>C (p.Arg2728=) c.265+27482A>C (n.265+27482A>C) n.3641A>C c.1989A>C n.1326A>C c.5473A>C (p.Arg1825=) c.2911A>C c.879A>C n.8195A>C c.8179A>C (p.Arg2727=) c.8101A>C (p.Arg2701=) c.5485A>C (p.Arg1829=) c.8086A>C (p.Arg2696=) c.1300A>C (p.Arg434=) n.8198A>C | |
| 5 | g.90703691A>G | CA360388775 | ADGRV1 | c.8182A>G (p.Arg2728Gly) c.265+27482A>G (n.265+27482A>G) n.3641A>G c.1989A>G n.1326A>G c.5473A>G (p.Arg1825Gly) c.2911A>G c.879A>G n.8195A>G c.8179A>G (p.Arg2727Gly) c.8101A>G (p.Arg2701Gly) c.5485A>G (p.Arg1829Gly) c.8086A>G (p.Arg2696Gly) c.1300A>G (p.Arg434Gly) n.8198A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90703691A>T | CA360388777 | ADGRV1 | c.8182A>T (p.Arg2728Ter) c.265+27482A>T (n.265+27482A>T) n.3641A>T c.1989A>T n.1326A>T c.5473A>T (p.Arg1825Ter) c.2911A>T c.879A>T n.8195A>T c.8179A>T (p.Arg2727Ter) c.8101A>T (p.Arg2701Ter) c.5485A>T (p.Arg1829Ter) c.8086A>T (p.Arg2696Ter) c.1300A>T (p.Arg434Ter) n.8198A>T | ClinVar |
| 5 | g.90703692G>A | CA360388782 | ADGRV1 | c.8183G>A (p.Arg2728Lys) c.265+27483G>A (n.265+27483G>A) n.3642G>A c.1990G>A n.1327G>A c.5474G>A (p.Arg1825Lys) c.2912G>A c.880G>A n.8196G>A c.8180G>A (p.Arg2727Lys) c.8102G>A (p.Arg2701Lys) c.5486G>A (p.Arg1829Lys) c.8087G>A (p.Arg2696Lys) c.1301G>A (p.Arg434Lys) n.8199G>A | |
| 5 | g.90703692G>C | CA360388779 | ADGRV1 | c.8183G>C (p.Arg2728Thr) c.265+27483G>C (n.265+27483G>C) n.3642G>C c.1990G>C n.1327G>C c.5474G>C (p.Arg1825Thr) c.2912G>C c.880G>C n.8196G>C c.8180G>C (p.Arg2727Thr) c.8102G>C (p.Arg2701Thr) c.5486G>C (p.Arg1829Thr) c.8087G>C (p.Arg2696Thr) c.1301G>C (p.Arg434Thr) n.8199G>C | |
| 5 | g.90703692G= | CA1562863868 | ADGRV1 | c.8183G= (p.Arg2728=) c.265+27483G= (n.265+27483G=) n.3642G= c.1990G= n.1327G= c.5474G= (p.Arg1825=) c.2912G= c.880G= n.8196G= c.8180G= (p.Arg2727=) c.8102G= (p.Arg2701=) c.5486G= (p.Arg1829=) c.8087G= (p.Arg2696=) c.1301G= (p.Arg434=) n.8199G= | |
| 5 | g.90703692G>T | CA3340188 | ADGRV1 | c.8183G>T (p.Arg2728Ile) c.265+27483G>T (n.265+27483G>T) n.3642G>T c.1990G>T n.1327G>T c.5474G>T (p.Arg1825Ile) c.2912G>T c.880G>T n.8196G>T c.8180G>T (p.Arg2727Ile) c.8102G>T (p.Arg2701Ile) c.5486G>T (p.Arg1829Ile) c.8087G>T (p.Arg2696Ile) c.1301G>T (p.Arg434Ile) n.8199G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90703693A>C | CA360388783 | ADGRV1 | c.8184A>C (p.Arg2728Ser) c.265+27484A>C (n.265+27484A>C) n.3643A>C c.1991A>C n.1328A>C c.5475A>C (p.Arg1825Ser) c.2913A>C c.881A>C n.8197A>C c.8181A>C (p.Arg2727Ser) c.8103A>C (p.Arg2701Ser) c.5487A>C (p.Arg1829Ser) c.8088A>C (p.Arg2696Ser) c.1302A>C (p.Arg434Ser) n.8200A>C | |
| 5 | g.90703693A>G | CA445406269 | ADGRV1 | c.8184A>G (p.Arg2728=) c.265+27484A>G (n.265+27484A>G) n.3643A>G c.1991A>G n.1328A>G c.5475A>G (p.Arg1825=) c.2913A>G c.881A>G n.8197A>G c.8181A>G (p.Arg2727=) c.8103A>G (p.Arg2701=) c.5487A>G (p.Arg1829=) c.8088A>G (p.Arg2696=) c.1302A>G (p.Arg434=) n.8200A>G | |
| 5 | g.90703693A>T | CA360388785 | ADGRV1 | c.8184A>T (p.Arg2728Ser) c.265+27484A>T (n.265+27484A>T) n.3643A>T c.1991A>T n.1328A>T c.5475A>T (p.Arg1825Ser) c.2913A>T c.881A>T n.8197A>T c.8181A>T (p.Arg2727Ser) c.8103A>T (p.Arg2701Ser) c.5487A>T (p.Arg1829Ser) c.8088A>T (p.Arg2696Ser) c.1302A>T (p.Arg434Ser) n.8200A>T |