WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90810731C>A | CA445468325 | ADGRV1 | c.15471C>A (p.Ser5157=) c.4425C>A (p.Ser1475=) n.2738C>A c.265+134522C>A (n.265+134522C>A) c.1881C>A (p.Ser627=) c.2454C>A (p.Ser818=) n.15484C>A c.15468C>A (p.Ser5156=) c.15390C>A (p.Ser5130=) c.12774C>A (p.Ser4258=) c.15492C>A (p.Ser5164=) c.15489C>A (p.Ser5163=) c.15411C>A (p.Ser5137=) c.15396C>A (p.Ser5132=) c.15312C>A (p.Ser5104=) c.*425C>A (n.*425C>A) c.8610C>A (p.Ser2870=) c.8589C>A (p.Ser2863=) n.15487C>A | |
| 5 | g.90810731C= | CA1562911509 | ADGRV1 | c.15471C= (p.Ser5157=) c.4425C= (p.Ser1475=) n.2738C= c.265+134522C= (n.265+134522C=) c.1881C= (p.Ser627=) c.2454C= (p.Ser818=) n.15484C= c.15468C= (p.Ser5156=) c.15390C= (p.Ser5130=) c.12774C= (p.Ser4258=) c.15492C= (p.Ser5164=) c.15489C= (p.Ser5163=) c.15411C= (p.Ser5137=) c.15396C= (p.Ser5132=) c.15312C= (p.Ser5104=) c.*425C= (n.*425C=) c.8610C= (p.Ser2870=) c.8589C= (p.Ser2863=) n.15487C= | |
| 5 | g.90810731C>G | CA445468327 | ADGRV1 | c.15471C>G (p.Ser5157=) c.4425C>G (p.Ser1475=) n.2738C>G c.265+134522C>G (n.265+134522C>G) c.1881C>G (p.Ser627=) c.2454C>G (p.Ser818=) n.15484C>G c.15468C>G (p.Ser5156=) c.15390C>G (p.Ser5130=) c.12774C>G (p.Ser4258=) c.15492C>G (p.Ser5164=) c.15489C>G (p.Ser5163=) c.15411C>G (p.Ser5137=) c.15396C>G (p.Ser5132=) c.15312C>G (p.Ser5104=) c.*425C>G (n.*425C>G) c.8610C>G (p.Ser2870=) c.8589C>G (p.Ser2863=) n.15487C>G | |
| 5 | g.90810731C>T | CA138045 | ADGRV1 | c.15471C>T (p.Ser5157=) c.4425C>T (p.Ser1475=) n.2738C>T c.265+134522C>T (n.265+134522C>T) c.1881C>T (p.Ser627=) c.2454C>T (p.Ser818=) n.15484C>T c.15468C>T (p.Ser5156=) c.15390C>T (p.Ser5130=) c.12774C>T (p.Ser4258=) c.15492C>T (p.Ser5164=) c.15489C>T (p.Ser5163=) c.15411C>T (p.Ser5137=) c.15396C>T (p.Ser5132=) c.15312C>T (p.Ser5104=) c.*425C>T (n.*425C>T) c.8610C>T (p.Ser2870=) c.8589C>T (p.Ser2863=) n.15487C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90810732A>C | CA360409656 | ADGRV1 | c.15472A>C (p.Thr5158Pro) c.4426A>C (p.Thr1476Pro) n.2739A>C c.265+134523A>C (n.265+134523A>C) c.1882A>C (p.Thr628Pro) c.2455A>C (p.Thr819Pro) n.15485A>C c.15469A>C (p.Thr5157Pro) c.15391A>C (p.Thr5131Pro) c.12775A>C (p.Thr4259Pro) c.15493A>C (p.Thr5165Pro) c.15490A>C (p.Thr5164Pro) c.15412A>C (p.Thr5138Pro) c.15397A>C (p.Thr5133Pro) c.15313A>C (p.Thr5105Pro) c.*426A>C (n.*426A>C) c.8611A>C (p.Thr2871Pro) c.8590A>C (p.Thr2864Pro) n.15488A>C | |
| 5 | g.90810732A>G | CA360409659 | ADGRV1 | c.15472A>G (p.Thr5158Ala) c.4426A>G (p.Thr1476Ala) n.2739A>G c.265+134523A>G (n.265+134523A>G) c.1882A>G (p.Thr628Ala) c.2455A>G (p.Thr819Ala) n.15485A>G c.15469A>G (p.Thr5157Ala) c.15391A>G (p.Thr5131Ala) c.12775A>G (p.Thr4259Ala) c.15493A>G (p.Thr5165Ala) c.15490A>G (p.Thr5164Ala) c.15412A>G (p.Thr5138Ala) c.15397A>G (p.Thr5133Ala) c.15313A>G (p.Thr5105Ala) c.*426A>G (n.*426A>G) c.8611A>G (p.Thr2871Ala) c.8590A>G (p.Thr2864Ala) n.15488A>G | gnomAD v4 |
| 5 | g.90810732A>T | CA360409662 | ADGRV1 | c.15472A>T (p.Thr5158Ser) c.4426A>T (p.Thr1476Ser) n.2739A>T c.265+134523A>T (n.265+134523A>T) c.1882A>T (p.Thr628Ser) c.2455A>T (p.Thr819Ser) n.15485A>T c.15469A>T (p.Thr5157Ser) c.15391A>T (p.Thr5131Ser) c.12775A>T (p.Thr4259Ser) c.15493A>T (p.Thr5165Ser) c.15490A>T (p.Thr5164Ser) c.15412A>T (p.Thr5138Ser) c.15397A>T (p.Thr5133Ser) c.15313A>T (p.Thr5105Ser) c.*426A>T (n.*426A>T) c.8611A>T (p.Thr2871Ser) c.8590A>T (p.Thr2864Ser) n.15488A>T | |
| 5 | g.90810733C>A | CA360409663 | ADGRV1 | c.15473C>A (p.Thr5158Asn) c.4427C>A (p.Thr1476Asn) n.2740C>A c.265+134524C>A (n.265+134524C>A) c.1883C>A (p.Thr628Asn) c.2456C>A (p.Thr819Asn) n.15486C>A c.15470C>A (p.Thr5157Asn) c.15392C>A (p.Thr5131Asn) c.12776C>A (p.Thr4259Asn) c.15494C>A (p.Thr5165Asn) c.15491C>A (p.Thr5164Asn) c.15413C>A (p.Thr5138Asn) c.15398C>A (p.Thr5133Asn) c.15314C>A (p.Thr5105Asn) c.*427C>A (n.*427C>A) c.8612C>A (p.Thr2871Asn) c.8591C>A (p.Thr2864Asn) n.15489C>A | dbSNP gnomAD v4 |
| 5 | g.90810733C= | CA1562911510 | ADGRV1 | c.15473C= (p.Thr5158=) c.4427C= (p.Thr1476=) n.2740C= c.265+134524C= (n.265+134524C=) c.1883C= (p.Thr628=) c.2456C= (p.Thr819=) n.15486C= c.15470C= (p.Thr5157=) c.15392C= (p.Thr5131=) c.12776C= (p.Thr4259=) c.15494C= (p.Thr5165=) c.15491C= (p.Thr5164=) c.15413C= (p.Thr5138=) c.15398C= (p.Thr5133=) c.15314C= (p.Thr5105=) c.*427C= (n.*427C=) c.8612C= (p.Thr2871=) c.8591C= (p.Thr2864=) n.15489C= | |
| 5 | g.90810733C>G | CA360409664 | ADGRV1 | c.15473C>G (p.Thr5158Ser) c.4427C>G (p.Thr1476Ser) n.2740C>G c.265+134524C>G (n.265+134524C>G) c.1883C>G (p.Thr628Ser) c.2456C>G (p.Thr819Ser) n.15486C>G c.15470C>G (p.Thr5157Ser) c.15392C>G (p.Thr5131Ser) c.12776C>G (p.Thr4259Ser) c.15494C>G (p.Thr5165Ser) c.15491C>G (p.Thr5164Ser) c.15413C>G (p.Thr5138Ser) c.15398C>G (p.Thr5133Ser) c.15314C>G (p.Thr5105Ser) c.*427C>G (n.*427C>G) c.8612C>G (p.Thr2871Ser) c.8591C>G (p.Thr2864Ser) n.15489C>G | dbSNP |
| 5 | g.90810733C>T | CA3341928 | ADGRV1 | c.15473C>T (p.Thr5158Ile) c.4427C>T (p.Thr1476Ile) n.2740C>T c.265+134524C>T (n.265+134524C>T) c.1883C>T (p.Thr628Ile) c.2456C>T (p.Thr819Ile) n.15486C>T c.15470C>T (p.Thr5157Ile) c.15392C>T (p.Thr5131Ile) c.12776C>T (p.Thr4259Ile) c.15494C>T (p.Thr5165Ile) c.15491C>T (p.Thr5164Ile) c.15413C>T (p.Thr5138Ile) c.15398C>T (p.Thr5133Ile) c.15314C>T (p.Thr5105Ile) c.*427C>T (n.*427C>T) c.8612C>T (p.Thr2871Ile) c.8591C>T (p.Thr2864Ile) n.15489C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90810734C>A | CA445468349 | ADGRV1 | c.15474C>A (p.Thr5158=) c.4428C>A (p.Thr1476=) n.2741C>A c.265+134525C>A (n.265+134525C>A) c.1884C>A (p.Thr628=) c.2457C>A (p.Thr819=) n.15487C>A c.15471C>A (p.Thr5157=) c.15393C>A (p.Thr5131=) c.12777C>A (p.Thr4259=) c.15495C>A (p.Thr5165=) c.15492C>A (p.Thr5164=) c.15414C>A (p.Thr5138=) c.15399C>A (p.Thr5133=) c.15315C>A (p.Thr5105=) c.*428C>A (n.*428C>A) c.8613C>A (p.Thr2871=) c.8592C>A (p.Thr2864=) n.15490C>A | |
| 5 | g.90810734C>G | CA445468350 | ADGRV1 | c.15474C>G (p.Thr5158=) c.4428C>G (p.Thr1476=) n.2741C>G c.265+134525C>G (n.265+134525C>G) c.1884C>G (p.Thr628=) c.2457C>G (p.Thr819=) n.15487C>G c.15471C>G (p.Thr5157=) c.15393C>G (p.Thr5131=) c.12777C>G (p.Thr4259=) c.15495C>G (p.Thr5165=) c.15492C>G (p.Thr5164=) c.15414C>G (p.Thr5138=) c.15399C>G (p.Thr5133=) c.15315C>G (p.Thr5105=) c.*428C>G (n.*428C>G) c.8613C>G (p.Thr2871=) c.8592C>G (p.Thr2864=) n.15490C>G | |
| 5 | g.90810734C>T | CA445468351 | ADGRV1 | c.15474C>T (p.Thr5158=) c.4428C>T (p.Thr1476=) n.2741C>T c.265+134525C>T (n.265+134525C>T) c.1884C>T (p.Thr628=) c.2457C>T (p.Thr819=) n.15487C>T c.15471C>T (p.Thr5157=) c.15393C>T (p.Thr5131=) c.12777C>T (p.Thr4259=) c.15495C>T (p.Thr5165=) c.15492C>T (p.Thr5164=) c.15414C>T (p.Thr5138=) c.15399C>T (p.Thr5133=) c.15315C>T (p.Thr5105=) c.*428C>T (n.*428C>T) c.8613C>T (p.Thr2871=) c.8592C>T (p.Thr2864=) n.15490C>T | gnomAD v4 |
| 5 | g.90810736_90810737del | CA2510070102 | ADGRV1 | c.15476_15477del (p.Thr5159IlefsTer22) c.4430_4431del (p.Thr1477IlefsTer22) n.2743_2744del c.265+134527_265+134528del (n.265+134527_265+134528del) c.1886_1887del (p.Thr629IlefsTer22) c.2459_2460del (p.Thr820IlefsTer22) n.15489_15490del c.15473_15474del (p.Thr5158IlefsTer22) c.15395_15396del (p.Thr5132IlefsTer22) c.12779_12780del (p.Thr4260IlefsTer22) c.15497_15498del (p.Thr5166IlefsTer22) c.15494_15495del (p.Thr5165IlefsTer22) c.15416_15417del (p.Thr5139IlefsTer22) c.15401_15402del (p.Thr5134IlefsTer22) c.15317_15318del (p.Thr5106IlefsTer22) c.*430_*431del (n.*430_*431del) c.8615_8616del (p.Thr2872IlefsTer22) c.8594_8595del (p.Thr2865IlefsTer22) n.15492_15493del | |
| 5 | g.90810735A>C | CA360409666 | ADGRV1 | c.15475A>C (p.Thr5159Pro) c.4429A>C (p.Thr1477Pro) n.2742A>C c.265+134526A>C (n.265+134526A>C) c.1885A>C (p.Thr629Pro) c.2458A>C (p.Thr820Pro) n.15488A>C c.15472A>C (p.Thr5158Pro) c.15394A>C (p.Thr5132Pro) c.12778A>C (p.Thr4260Pro) c.15496A>C (p.Thr5166Pro) c.15493A>C (p.Thr5165Pro) c.15415A>C (p.Thr5139Pro) c.15400A>C (p.Thr5134Pro) c.15316A>C (p.Thr5106Pro) c.*429A>C (n.*429A>C) c.8614A>C (p.Thr2872Pro) c.8593A>C (p.Thr2865Pro) n.15491A>C | |
| 5 | g.90810735A>G | CA360409678 | ADGRV1 | c.15475A>G (p.Thr5159Ala) c.4429A>G (p.Thr1477Ala) n.2742A>G c.265+134526A>G (n.265+134526A>G) c.1885A>G (p.Thr629Ala) c.2458A>G (p.Thr820Ala) n.15488A>G c.15472A>G (p.Thr5158Ala) c.15394A>G (p.Thr5132Ala) c.12778A>G (p.Thr4260Ala) c.15496A>G (p.Thr5166Ala) c.15493A>G (p.Thr5165Ala) c.15415A>G (p.Thr5139Ala) c.15400A>G (p.Thr5134Ala) c.15316A>G (p.Thr5106Ala) c.*429A>G (n.*429A>G) c.8614A>G (p.Thr2872Ala) c.8593A>G (p.Thr2865Ala) n.15491A>G | gnomAD v4 |
| 5 | g.90810735A>T | CA360409665 | ADGRV1 | c.15475A>T (p.Thr5159Ser) c.4429A>T (p.Thr1477Ser) n.2742A>T c.265+134526A>T (n.265+134526A>T) c.1885A>T (p.Thr629Ser) c.2458A>T (p.Thr820Ser) n.15488A>T c.15472A>T (p.Thr5158Ser) c.15394A>T (p.Thr5132Ser) c.12778A>T (p.Thr4260Ser) c.15496A>T (p.Thr5166Ser) c.15493A>T (p.Thr5165Ser) c.15415A>T (p.Thr5139Ser) c.15400A>T (p.Thr5134Ser) c.15316A>T (p.Thr5106Ser) c.*429A>T (n.*429A>T) c.8614A>T (p.Thr2872Ser) c.8593A>T (p.Thr2865Ser) n.15491A>T | |
| 5 | g.90810736C>A | CA360409684 | ADGRV1 | c.15476C>A (p.Thr5159Lys) c.4430C>A (p.Thr1477Lys) n.2743C>A c.265+134527C>A (n.265+134527C>A) c.1886C>A (p.Thr629Lys) c.2459C>A (p.Thr820Lys) n.15489C>A c.15473C>A (p.Thr5158Lys) c.15395C>A (p.Thr5132Lys) c.12779C>A (p.Thr4260Lys) c.15497C>A (p.Thr5166Lys) c.15494C>A (p.Thr5165Lys) c.15416C>A (p.Thr5139Lys) c.15401C>A (p.Thr5134Lys) c.15317C>A (p.Thr5106Lys) c.*430C>A (n.*430C>A) c.8615C>A (p.Thr2872Lys) c.8594C>A (p.Thr2865Lys) n.15492C>A | |
| 5 | g.90810736C= | CA1562911511 | ADGRV1 | c.15476C= (p.Thr5159=) c.4430C= (p.Thr1477=) n.2743C= c.265+134527C= (n.265+134527C=) c.1886C= (p.Thr629=) c.2459C= (p.Thr820=) n.15489C= c.15473C= (p.Thr5158=) c.15395C= (p.Thr5132=) c.12779C= (p.Thr4260=) c.15497C= (p.Thr5166=) c.15494C= (p.Thr5165=) c.15416C= (p.Thr5139=) c.15401C= (p.Thr5134=) c.15317C= (p.Thr5106=) c.*430C= (n.*430C=) c.8615C= (p.Thr2872=) c.8594C= (p.Thr2865=) n.15492C= | |
| 5 | g.90810736C>G | CA360409686 | ADGRV1 | c.15476C>G (p.Thr5159Arg) c.4430C>G (p.Thr1477Arg) n.2743C>G c.265+134527C>G (n.265+134527C>G) c.1886C>G (p.Thr629Arg) c.2459C>G (p.Thr820Arg) n.15489C>G c.15473C>G (p.Thr5158Arg) c.15395C>G (p.Thr5132Arg) c.12779C>G (p.Thr4260Arg) c.15497C>G (p.Thr5166Arg) c.15494C>G (p.Thr5165Arg) c.15416C>G (p.Thr5139Arg) c.15401C>G (p.Thr5134Arg) c.15317C>G (p.Thr5106Arg) c.*430C>G (n.*430C>G) c.8615C>G (p.Thr2872Arg) c.8594C>G (p.Thr2865Arg) n.15492C>G | |
| 5 | g.90810736C>T | CA360409688 | ADGRV1 | c.15476C>T (p.Thr5159Ile) c.4430C>T (p.Thr1477Ile) n.2743C>T c.265+134527C>T (n.265+134527C>T) c.1886C>T (p.Thr629Ile) c.2459C>T (p.Thr820Ile) n.15489C>T c.15473C>T (p.Thr5158Ile) c.15395C>T (p.Thr5132Ile) c.12779C>T (p.Thr4260Ile) c.15497C>T (p.Thr5166Ile) c.15494C>T (p.Thr5165Ile) c.15416C>T (p.Thr5139Ile) c.15401C>T (p.Thr5134Ile) c.15317C>T (p.Thr5106Ile) c.*430C>T (n.*430C>T) c.8615C>T (p.Thr2872Ile) c.8594C>T (p.Thr2865Ile) n.15492C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90810737A= | CA1562911512 | ADGRV1 | c.15477A= (p.Thr5159=) c.4431A= (p.Thr1477=) n.2744A= c.265+134528A= (n.265+134528A=) c.1887A= (p.Thr629=) c.2460A= (p.Thr820=) n.15490A= c.15474A= (p.Thr5158=) c.15396A= (p.Thr5132=) c.12780A= (p.Thr4260=) c.15498A= (p.Thr5166=) c.15495A= (p.Thr5165=) c.15417A= (p.Thr5139=) c.15402A= (p.Thr5134=) c.15318A= (p.Thr5106=) c.*431A= (n.*431A=) c.8616A= (p.Thr2872=) c.8595A= (p.Thr2865=) n.15493A= | |
| 5 | g.90810737A>C | CA445468357 | ADGRV1 | c.15477A>C (p.Thr5159=) c.4431A>C (p.Thr1477=) n.2744A>C c.265+134528A>C (n.265+134528A>C) c.1887A>C (p.Thr629=) c.2460A>C (p.Thr820=) n.15490A>C c.15474A>C (p.Thr5158=) c.15396A>C (p.Thr5132=) c.12780A>C (p.Thr4260=) c.15498A>C (p.Thr5166=) c.15495A>C (p.Thr5165=) c.15417A>C (p.Thr5139=) c.15402A>C (p.Thr5134=) c.15318A>C (p.Thr5106=) c.*431A>C (n.*431A>C) c.8616A>C (p.Thr2872=) c.8595A>C (p.Thr2865=) n.15493A>C | |
| 5 | g.90810737A>G | CA445468358 | ADGRV1 | c.15477A>G (p.Thr5159=) c.4431A>G (p.Thr1477=) n.2744A>G c.265+134528A>G (n.265+134528A>G) c.1887A>G (p.Thr629=) c.2460A>G (p.Thr820=) n.15490A>G c.15474A>G (p.Thr5158=) c.15396A>G (p.Thr5132=) c.12780A>G (p.Thr4260=) c.15498A>G (p.Thr5166=) c.15495A>G (p.Thr5165=) c.15417A>G (p.Thr5139=) c.15402A>G (p.Thr5134=) c.15318A>G (p.Thr5106=) c.*431A>G (n.*431A>G) c.8616A>G (p.Thr2872=) c.8595A>G (p.Thr2865=) n.15493A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90810737A>T | CA445468359 | ADGRV1 | c.15477A>T (p.Thr5159=) c.4431A>T (p.Thr1477=) n.2744A>T c.265+134528A>T (n.265+134528A>T) c.1887A>T (p.Thr629=) c.2460A>T (p.Thr820=) n.15490A>T c.15474A>T (p.Thr5158=) c.15396A>T (p.Thr5132=) c.12780A>T (p.Thr4260=) c.15498A>T (p.Thr5166=) c.15495A>T (p.Thr5165=) c.15417A>T (p.Thr5139=) c.15402A>T (p.Thr5134=) c.15318A>T (p.Thr5106=) c.*431A>T (n.*431A>T) c.8616A>T (p.Thr2872=) c.8595A>T (p.Thr2865=) n.15493A>T | |
| 5 | g.90810738T>A | CA360409690 | ADGRV1 | c.15478T>A (p.Tyr5160Asn) c.4432T>A (p.Tyr1478Asn) n.2745T>A c.265+134529T>A (n.265+134529T>A) c.1888T>A (p.Tyr630Asn) c.2461T>A (p.Tyr821Asn) n.15491T>A c.15475T>A (p.Tyr5159Asn) c.15397T>A (p.Tyr5133Asn) c.12781T>A (p.Tyr4261Asn) c.15499T>A (p.Tyr5167Asn) c.15496T>A (p.Tyr5166Asn) c.15418T>A (p.Tyr5140Asn) c.15403T>A (p.Tyr5135Asn) c.15319T>A (p.Tyr5107Asn) c.*432T>A (n.*432T>A) c.8617T>A (p.Tyr2873Asn) c.8596T>A (p.Tyr2866Asn) n.15494T>A | |
| 5 | g.90810738T>C | CA360409695 | ADGRV1 | c.15478T>C (p.Tyr5160His) c.4432T>C (p.Tyr1478His) n.2745T>C c.265+134529T>C (n.265+134529T>C) c.1888T>C (p.Tyr630His) c.2461T>C (p.Tyr821His) n.15491T>C c.15475T>C (p.Tyr5159His) c.15397T>C (p.Tyr5133His) c.12781T>C (p.Tyr4261His) c.15499T>C (p.Tyr5167His) c.15496T>C (p.Tyr5166His) c.15418T>C (p.Tyr5140His) c.15403T>C (p.Tyr5135His) c.15319T>C (p.Tyr5107His) c.*432T>C (n.*432T>C) c.8617T>C (p.Tyr2873His) c.8596T>C (p.Tyr2866His) n.15494T>C | |
| 5 | g.90810738T>G | CA360409697 | ADGRV1 | c.15478T>G (p.Tyr5160Asp) c.4432T>G (p.Tyr1478Asp) n.2745T>G c.265+134529T>G (n.265+134529T>G) c.1888T>G (p.Tyr630Asp) c.2461T>G (p.Tyr821Asp) n.15491T>G c.15475T>G (p.Tyr5159Asp) c.15397T>G (p.Tyr5133Asp) c.12781T>G (p.Tyr4261Asp) c.15499T>G (p.Tyr5167Asp) c.15496T>G (p.Tyr5166Asp) c.15418T>G (p.Tyr5140Asp) c.15403T>G (p.Tyr5135Asp) c.15319T>G (p.Tyr5107Asp) c.*432T>G (n.*432T>G) c.8617T>G (p.Tyr2873Asp) c.8596T>G (p.Tyr2866Asp) n.15494T>G | |
| 5 | g.90810739A>C | CA360409699 | ADGRV1 | c.15479A>C (p.Tyr5160Ser) c.4433A>C (p.Tyr1478Ser) n.2746A>C c.265+134530A>C (n.265+134530A>C) c.1889A>C (p.Tyr630Ser) c.2462A>C (p.Tyr821Ser) n.15492A>C c.15476A>C (p.Tyr5159Ser) c.15398A>C (p.Tyr5133Ser) c.12782A>C (p.Tyr4261Ser) c.15500A>C (p.Tyr5167Ser) c.15497A>C (p.Tyr5166Ser) c.15419A>C (p.Tyr5140Ser) c.15404A>C (p.Tyr5135Ser) c.15320A>C (p.Tyr5107Ser) c.*433A>C (n.*433A>C) c.8618A>C (p.Tyr2873Ser) c.8597A>C (p.Tyr2866Ser) n.15495A>C | |
| 5 | g.90810739A>G | CA360409704 | ADGRV1 | c.15479A>G (p.Tyr5160Cys) c.4433A>G (p.Tyr1478Cys) n.2746A>G c.265+134530A>G (n.265+134530A>G) c.1889A>G (p.Tyr630Cys) c.2462A>G (p.Tyr821Cys) n.15492A>G c.15476A>G (p.Tyr5159Cys) c.15398A>G (p.Tyr5133Cys) c.12782A>G (p.Tyr4261Cys) c.15500A>G (p.Tyr5167Cys) c.15497A>G (p.Tyr5166Cys) c.15419A>G (p.Tyr5140Cys) c.15404A>G (p.Tyr5135Cys) c.15320A>G (p.Tyr5107Cys) c.*433A>G (n.*433A>G) c.8618A>G (p.Tyr2873Cys) c.8597A>G (p.Tyr2866Cys) n.15495A>G | |
| 5 | g.90810739A>T | CA360409707 | ADGRV1 | c.15479A>T (p.Tyr5160Phe) c.4433A>T (p.Tyr1478Phe) n.2746A>T c.265+134530A>T (n.265+134530A>T) c.1889A>T (p.Tyr630Phe) c.2462A>T (p.Tyr821Phe) n.15492A>T c.15476A>T (p.Tyr5159Phe) c.15398A>T (p.Tyr5133Phe) c.12782A>T (p.Tyr4261Phe) c.15500A>T (p.Tyr5167Phe) c.15497A>T (p.Tyr5166Phe) c.15419A>T (p.Tyr5140Phe) c.15404A>T (p.Tyr5135Phe) c.15320A>T (p.Tyr5107Phe) c.*433A>T (n.*433A>T) c.8618A>T (p.Tyr2873Phe) c.8597A>T (p.Tyr2866Phe) n.15495A>T | |
| 5 | g.90810740C>A | CA360409708 | ADGRV1 | c.15480C>A (p.Tyr5160Ter) c.4434C>A (p.Tyr1478Ter) n.2747C>A c.265+134531C>A (n.265+134531C>A) c.1890C>A (p.Tyr630Ter) c.2463C>A (p.Tyr821Ter) n.15493C>A c.15477C>A (p.Tyr5159Ter) c.15399C>A (p.Tyr5133Ter) c.12783C>A (p.Tyr4261Ter) c.15501C>A (p.Tyr5167Ter) c.15498C>A (p.Tyr5166Ter) c.15420C>A (p.Tyr5140Ter) c.15405C>A (p.Tyr5135Ter) c.15321C>A (p.Tyr5107Ter) c.*434C>A (n.*434C>A) c.8619C>A (p.Tyr2873Ter) c.8598C>A (p.Tyr2866Ter) n.15496C>A | ClinVar dbSNP |
| 5 | g.90810740C>G | CA360409709 | ADGRV1 | c.15480C>G (p.Tyr5160Ter) c.4434C>G (p.Tyr1478Ter) n.2747C>G c.265+134531C>G (n.265+134531C>G) c.1890C>G (p.Tyr630Ter) c.2463C>G (p.Tyr821Ter) n.15493C>G c.15477C>G (p.Tyr5159Ter) c.15399C>G (p.Tyr5133Ter) c.12783C>G (p.Tyr4261Ter) c.15501C>G (p.Tyr5167Ter) c.15498C>G (p.Tyr5166Ter) c.15420C>G (p.Tyr5140Ter) c.15405C>G (p.Tyr5135Ter) c.15321C>G (p.Tyr5107Ter) c.*434C>G (n.*434C>G) c.8619C>G (p.Tyr2873Ter) c.8598C>G (p.Tyr2866Ter) n.15496C>G | |
| 5 | g.90810740C>T | CA445468371 | ADGRV1 | c.15480C>T (p.Tyr5160=) c.4434C>T (p.Tyr1478=) n.2747C>T c.265+134531C>T (n.265+134531C>T) c.1890C>T (p.Tyr630=) c.2463C>T (p.Tyr821=) n.15493C>T c.15477C>T (p.Tyr5159=) c.15399C>T (p.Tyr5133=) c.12783C>T (p.Tyr4261=) c.15501C>T (p.Tyr5167=) c.15498C>T (p.Tyr5166=) c.15420C>T (p.Tyr5140=) c.15405C>T (p.Tyr5135=) c.15321C>T (p.Tyr5107=) c.*434C>T (n.*434C>T) c.8619C>T (p.Tyr2873=) c.8598C>T (p.Tyr2866=) n.15496C>T | |
| 5 | g.90810741C>A | CA360409711 | ADGRV1 | c.15481C>A (p.Leu5161Ile) c.4435C>A (p.Leu1479Ile) n.2748C>A c.265+134532C>A (n.265+134532C>A) c.1891C>A (p.Leu631Ile) c.2464C>A (p.Leu822Ile) n.15494C>A c.15478C>A (p.Leu5160Ile) c.15400C>A (p.Leu5134Ile) c.12784C>A (p.Leu4262Ile) c.15502C>A (p.Leu5168Ile) c.15499C>A (p.Leu5167Ile) c.15421C>A (p.Leu5141Ile) c.15406C>A (p.Leu5136Ile) c.15322C>A (p.Leu5108Ile) c.*435C>A (n.*435C>A) c.8620C>A (p.Leu2874Ile) c.8599C>A (p.Leu2867Ile) n.15497C>A | |
| 5 | g.90810741C>G | CA360409712 | ADGRV1 | c.15481C>G (p.Leu5161Val) c.4435C>G (p.Leu1479Val) n.2748C>G c.265+134532C>G (n.265+134532C>G) c.1891C>G (p.Leu631Val) c.2464C>G (p.Leu822Val) n.15494C>G c.15478C>G (p.Leu5160Val) c.15400C>G (p.Leu5134Val) c.12784C>G (p.Leu4262Val) c.15502C>G (p.Leu5168Val) c.15499C>G (p.Leu5167Val) c.15421C>G (p.Leu5141Val) c.15406C>G (p.Leu5136Val) c.15322C>G (p.Leu5108Val) c.*435C>G (n.*435C>G) c.8620C>G (p.Leu2874Val) c.8599C>G (p.Leu2867Val) n.15497C>G | |
| 5 | g.90810741C>T | CA360409710 | ADGRV1 | c.15481C>T (p.Leu5161Phe) c.4435C>T (p.Leu1479Phe) n.2748C>T c.265+134532C>T (n.265+134532C>T) c.1891C>T (p.Leu631Phe) c.2464C>T (p.Leu822Phe) n.15494C>T c.15478C>T (p.Leu5160Phe) c.15400C>T (p.Leu5134Phe) c.12784C>T (p.Leu4262Phe) c.15502C>T (p.Leu5168Phe) c.15499C>T (p.Leu5167Phe) c.15421C>T (p.Leu5141Phe) c.15406C>T (p.Leu5136Phe) c.15322C>T (p.Leu5108Phe) c.*435C>T (n.*435C>T) c.8620C>T (p.Leu2874Phe) c.8599C>T (p.Leu2867Phe) n.15497C>T | dbSNP |
| 5 | g.90810742_90810746del | CA2674577083 | ADGRV1 | c.15482_15486del (p.Leu5161HisfsTer19) c.4436_4440del (p.Leu1479HisfsTer19) n.2749_2753del c.265+134533_265+134537del (n.265+134533_265+134537del) c.1892_1896del (p.Leu631HisfsTer19) c.2465_2469del (p.Leu822HisfsTer19) n.15495_15499del c.15479_15483del (p.Leu5160HisfsTer19) c.15401_15405del (p.Leu5134HisfsTer19) c.12785_12789del (p.Leu4262HisfsTer19) c.15503_15507del (p.Leu5168HisfsTer19) c.15500_15504del (p.Leu5167HisfsTer19) c.15422_15426del (p.Leu5141HisfsTer19) c.15407_15411del (p.Leu5136HisfsTer19) c.15323_15327del (p.Leu5108HisfsTer19) c.*436_*440del (n.*436_*440del) c.8621_8625del (p.Leu2874HisfsTer19) c.8600_8604del (p.Leu2867HisfsTer19) n.15498_15502del | gnomAD v4 |
| 5 | g.90810742T>A | CA360409714 | ADGRV1 | c.15482T>A (p.Leu5161His) c.4436T>A (p.Leu1479His) n.2749T>A c.265+134533T>A (n.265+134533T>A) c.1892T>A (p.Leu631His) c.2465T>A (p.Leu822His) n.15495T>A c.15479T>A (p.Leu5160His) c.15401T>A (p.Leu5134His) c.12785T>A (p.Leu4262His) c.15503T>A (p.Leu5168His) c.15500T>A (p.Leu5167His) c.15422T>A (p.Leu5141His) c.15407T>A (p.Leu5136His) c.15323T>A (p.Leu5108His) c.*436T>A (n.*436T>A) c.8621T>A (p.Leu2874His) c.8600T>A (p.Leu2867His) n.15498T>A | |
| 5 | g.90810742T>C | CA360409715 | ADGRV1 | c.15482T>C (p.Leu5161Pro) c.4436T>C (p.Leu1479Pro) n.2749T>C c.265+134533T>C (n.265+134533T>C) c.1892T>C (p.Leu631Pro) c.2465T>C (p.Leu822Pro) n.15495T>C c.15479T>C (p.Leu5160Pro) c.15401T>C (p.Leu5134Pro) c.12785T>C (p.Leu4262Pro) c.15503T>C (p.Leu5168Pro) c.15500T>C (p.Leu5167Pro) c.15422T>C (p.Leu5141Pro) c.15407T>C (p.Leu5136Pro) c.15323T>C (p.Leu5108Pro) c.*436T>C (n.*436T>C) c.8621T>C (p.Leu2874Pro) c.8600T>C (p.Leu2867Pro) n.15498T>C | |
| 5 | g.90810742T>G | CA360409716 | ADGRV1 | c.15482T>G (p.Leu5161Arg) c.4436T>G (p.Leu1479Arg) n.2749T>G c.265+134533T>G (n.265+134533T>G) c.1892T>G (p.Leu631Arg) c.2465T>G (p.Leu822Arg) n.15495T>G c.15479T>G (p.Leu5160Arg) c.15401T>G (p.Leu5134Arg) c.12785T>G (p.Leu4262Arg) c.15503T>G (p.Leu5168Arg) c.15500T>G (p.Leu5167Arg) c.15422T>G (p.Leu5141Arg) c.15407T>G (p.Leu5136Arg) c.15323T>G (p.Leu5108Arg) c.*436T>G (n.*436T>G) c.8621T>G (p.Leu2874Arg) c.8600T>G (p.Leu2867Arg) n.15498T>G | |
| 5 | g.90810743C>A | CA445468379 | ADGRV1 | c.15483C>A (p.Leu5161=) c.4437C>A (p.Leu1479=) n.2750C>A c.265+134534C>A (n.265+134534C>A) c.1893C>A (p.Leu631=) c.2466C>A (p.Leu822=) n.15496C>A c.15480C>A (p.Leu5160=) c.15402C>A (p.Leu5134=) c.12786C>A (p.Leu4262=) c.15504C>A (p.Leu5168=) c.15501C>A (p.Leu5167=) c.15423C>A (p.Leu5141=) c.15408C>A (p.Leu5136=) c.15324C>A (p.Leu5108=) c.*437C>A (n.*437C>A) c.8622C>A (p.Leu2874=) c.8601C>A (p.Leu2867=) n.15499C>A | |
| 5 | g.90810743C>G | CA445468381 | ADGRV1 | c.15483C>G (p.Leu5161=) c.4437C>G (p.Leu1479=) n.2750C>G c.265+134534C>G (n.265+134534C>G) c.1893C>G (p.Leu631=) c.2466C>G (p.Leu822=) n.15496C>G c.15480C>G (p.Leu5160=) c.15402C>G (p.Leu5134=) c.12786C>G (p.Leu4262=) c.15504C>G (p.Leu5168=) c.15501C>G (p.Leu5167=) c.15423C>G (p.Leu5141=) c.15408C>G (p.Leu5136=) c.15324C>G (p.Leu5108=) c.*437C>G (n.*437C>G) c.8622C>G (p.Leu2874=) c.8601C>G (p.Leu2867=) n.15499C>G | |
| 5 | g.90810743C>T | CA445468378 | ADGRV1 | c.15483C>T (p.Leu5161=) c.4437C>T (p.Leu1479=) n.2750C>T c.265+134534C>T (n.265+134534C>T) c.1893C>T (p.Leu631=) c.2466C>T (p.Leu822=) n.15496C>T c.15480C>T (p.Leu5160=) c.15402C>T (p.Leu5134=) c.12786C>T (p.Leu4262=) c.15504C>T (p.Leu5168=) c.15501C>T (p.Leu5167=) c.15423C>T (p.Leu5141=) c.15408C>T (p.Leu5136=) c.15324C>T (p.Leu5108=) c.*437C>T (n.*437C>T) c.8622C>T (p.Leu2874=) c.8601C>T (p.Leu2867=) n.15499C>T | |
| 5 | g.90810744A>C | CA360409717 | ADGRV1 | c.15484A>C (p.Ser5162Arg) c.4438A>C (p.Ser1480Arg) n.2751A>C c.265+134535A>C (n.265+134535A>C) c.1894A>C (p.Ser632Arg) c.2467A>C (p.Ser823Arg) n.15497A>C c.15481A>C (p.Ser5161Arg) c.15403A>C (p.Ser5135Arg) c.12787A>C (p.Ser4263Arg) c.15505A>C (p.Ser5169Arg) c.15502A>C (p.Ser5168Arg) c.15424A>C (p.Ser5142Arg) c.15409A>C (p.Ser5137Arg) c.15325A>C (p.Ser5109Arg) c.*438A>C (n.*438A>C) c.8623A>C (p.Ser2875Arg) c.8602A>C (p.Ser2868Arg) n.15500A>C | |
| 5 | g.90810744A>G | CA360409718 | ADGRV1 | c.15484A>G (p.Ser5162Gly) c.4438A>G (p.Ser1480Gly) n.2751A>G c.265+134535A>G (n.265+134535A>G) c.1894A>G (p.Ser632Gly) c.2467A>G (p.Ser823Gly) n.15497A>G c.15481A>G (p.Ser5161Gly) c.15403A>G (p.Ser5135Gly) c.12787A>G (p.Ser4263Gly) c.15505A>G (p.Ser5169Gly) c.15502A>G (p.Ser5168Gly) c.15424A>G (p.Ser5142Gly) c.15409A>G (p.Ser5137Gly) c.15325A>G (p.Ser5109Gly) c.*438A>G (n.*438A>G) c.8623A>G (p.Ser2875Gly) c.8602A>G (p.Ser2868Gly) n.15500A>G | gnomAD v4 |
| 5 | g.90810744A>T | CA360409719 | ADGRV1 | c.15484A>T (p.Ser5162Cys) c.4438A>T (p.Ser1480Cys) n.2751A>T c.265+134535A>T (n.265+134535A>T) c.1894A>T (p.Ser632Cys) c.2467A>T (p.Ser823Cys) n.15497A>T c.15481A>T (p.Ser5161Cys) c.15403A>T (p.Ser5135Cys) c.12787A>T (p.Ser4263Cys) c.15505A>T (p.Ser5169Cys) c.15502A>T (p.Ser5168Cys) c.15424A>T (p.Ser5142Cys) c.15409A>T (p.Ser5137Cys) c.15325A>T (p.Ser5109Cys) c.*438A>T (n.*438A>T) c.8623A>T (p.Ser2875Cys) c.8602A>T (p.Ser2868Cys) n.15500A>T | |
| 5 | g.90810745G>A | CA3341929 | ADGRV1 | c.15485G>A (p.Ser5162Asn) c.4439G>A (p.Ser1480Asn) n.2752G>A c.265+134536G>A (n.265+134536G>A) c.1895G>A (p.Ser632Asn) c.2468G>A (p.Ser823Asn) n.15498G>A c.15482G>A (p.Ser5161Asn) c.15404G>A (p.Ser5135Asn) c.12788G>A (p.Ser4263Asn) c.15506G>A (p.Ser5169Asn) c.15503G>A (p.Ser5168Asn) c.15425G>A (p.Ser5142Asn) c.15410G>A (p.Ser5137Asn) c.15326G>A (p.Ser5109Asn) c.*439G>A (n.*439G>A) c.8624G>A (p.Ser2875Asn) c.8603G>A (p.Ser2868Asn) n.15501G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90810745G>C | CA360409728 | ADGRV1 | c.15485G>C (p.Ser5162Thr) c.4439G>C (p.Ser1480Thr) n.2752G>C c.265+134536G>C (n.265+134536G>C) c.1895G>C (p.Ser632Thr) c.2468G>C (p.Ser823Thr) n.15498G>C c.15482G>C (p.Ser5161Thr) c.15404G>C (p.Ser5135Thr) c.12788G>C (p.Ser4263Thr) c.15506G>C (p.Ser5169Thr) c.15503G>C (p.Ser5168Thr) c.15425G>C (p.Ser5142Thr) c.15410G>C (p.Ser5137Thr) c.15326G>C (p.Ser5109Thr) c.*439G>C (n.*439G>C) c.8624G>C (p.Ser2875Thr) c.8603G>C (p.Ser2868Thr) n.15501G>C |