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.90692742G>A | CA445404560 | ADGRV1 | c.7089G>A (p.Glu2363=) c.265+16533G>A (n.265+16533G>A) n.2548G>A c.896G>A n.233G>A c.4380G>A (p.Glu1460=) c.1818G>A n.7102G>A c.7086G>A (p.Glu2362=) c.7008G>A (p.Glu2336=) c.4392G>A (p.Glu1464=) c.6993G>A (p.Glu2331=) c.207G>A (p.Glu69=) n.7105G>A | gnomAD v4 |
| 5 | g.90692742G>C | CA360371748 | ADGRV1 | c.7089G>C (p.Glu2363Asp) c.265+16533G>C (n.265+16533G>C) n.2548G>C c.896G>C n.233G>C c.4380G>C (p.Glu1460Asp) c.1818G>C n.7102G>C c.7086G>C (p.Glu2362Asp) c.7008G>C (p.Glu2336Asp) c.4392G>C (p.Glu1464Asp) c.6993G>C (p.Glu2331Asp) c.207G>C (p.Glu69Asp) n.7105G>C | |
| 5 | g.90692742G>T | CA360371749 | ADGRV1 | c.7089G>T (p.Glu2363Asp) c.265+16533G>T (n.265+16533G>T) n.2548G>T c.896G>T n.233G>T c.4380G>T (p.Glu1460Asp) c.1818G>T n.7102G>T c.7086G>T (p.Glu2362Asp) c.7008G>T (p.Glu2336Asp) c.4392G>T (p.Glu1464Asp) c.6993G>T (p.Glu2331Asp) c.207G>T (p.Glu69Asp) n.7105G>T | |
| 5 | g.90692743C>A | CA360371752 | ADGRV1 | c.7090C>A (p.Pro2364Thr) c.265+16534C>A (n.265+16534C>A) n.2549C>A c.897C>A n.234C>A c.4381C>A (p.Pro1461Thr) c.1819C>A n.7103C>A c.7087C>A (p.Pro2363Thr) c.7009C>A (p.Pro2337Thr) c.4393C>A (p.Pro1465Thr) c.6994C>A (p.Pro2332Thr) c.208C>A (p.Pro70Thr) n.7106C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90692743C= | CA1562859313 | ADGRV1 | c.7090C= (p.Pro2364=) c.265+16534C= (n.265+16534C=) n.2549C= c.897C= n.234C= c.4381C= (p.Pro1461=) c.1819C= n.7103C= c.7087C= (p.Pro2363=) c.7009C= (p.Pro2337=) c.4393C= (p.Pro1465=) c.6994C= (p.Pro2332=) c.208C= (p.Pro70=) n.7106C= | |
| 5 | g.90692743C>G | CA360371754 | ADGRV1 | c.7090C>G (p.Pro2364Ala) c.265+16534C>G (n.265+16534C>G) n.2549C>G c.897C>G n.234C>G c.4381C>G (p.Pro1461Ala) c.1819C>G n.7103C>G c.7087C>G (p.Pro2363Ala) c.7009C>G (p.Pro2337Ala) c.4393C>G (p.Pro1465Ala) c.6994C>G (p.Pro2332Ala) c.208C>G (p.Pro70Ala) n.7106C>G | |
| 5 | g.90692743C>T | CA360371758 | ADGRV1 | c.7090C>T (p.Pro2364Ser) c.265+16534C>T (n.265+16534C>T) n.2549C>T c.897C>T n.234C>T c.4381C>T (p.Pro1461Ser) c.1819C>T n.7103C>T c.7087C>T (p.Pro2363Ser) c.7009C>T (p.Pro2337Ser) c.4393C>T (p.Pro1465Ser) c.6994C>T (p.Pro2332Ser) c.208C>T (p.Pro70Ser) n.7106C>T | gnomAD v4 |
| 5 | g.90692744C>A | CA360371763 | ADGRV1 | c.7091C>A (p.Pro2364His) c.265+16535C>A (n.265+16535C>A) n.2550C>A c.898C>A n.235C>A c.4382C>A (p.Pro1461His) c.1820C>A n.7104C>A c.7088C>A (p.Pro2363His) c.7010C>A (p.Pro2337His) c.4394C>A (p.Pro1465His) c.6995C>A (p.Pro2332His) c.209C>A (p.Pro70His) n.7107C>A | |
| 5 | g.90692744C>G | CA360371767 | ADGRV1 | c.7091C>G (p.Pro2364Arg) c.265+16535C>G (n.265+16535C>G) n.2550C>G c.898C>G n.235C>G c.4382C>G (p.Pro1461Arg) c.1820C>G n.7104C>G c.7088C>G (p.Pro2363Arg) c.7010C>G (p.Pro2337Arg) c.4394C>G (p.Pro1465Arg) c.6995C>G (p.Pro2332Arg) c.209C>G (p.Pro70Arg) n.7107C>G | |
| 5 | g.90692744C>T | CA360371768 | ADGRV1 | c.7091C>T (p.Pro2364Leu) c.265+16535C>T (n.265+16535C>T) n.2550C>T c.898C>T n.235C>T c.4382C>T (p.Pro1461Leu) c.1820C>T n.7104C>T c.7088C>T (p.Pro2363Leu) c.7010C>T (p.Pro2337Leu) c.4394C>T (p.Pro1465Leu) c.6995C>T (p.Pro2332Leu) c.209C>T (p.Pro70Leu) n.7107C>T | |
| 5 | g.90692745T>A | CA445404566 | ADGRV1 | c.7092T>A (p.Pro2364=) c.265+16536T>A (n.265+16536T>A) n.2551T>A c.899T>A n.236T>A c.4383T>A (p.Pro1461=) c.1821T>A n.7105T>A c.7089T>A (p.Pro2363=) c.7011T>A (p.Pro2337=) c.4395T>A (p.Pro1465=) c.6996T>A (p.Pro2332=) c.210T>A (p.Pro70=) n.7108T>A | ClinVar dbSNP |
| 5 | g.90692745T>C | CA445404567 | ADGRV1 | c.7092T>C (p.Pro2364=) c.265+16536T>C (n.265+16536T>C) n.2551T>C c.899T>C n.236T>C c.4383T>C (p.Pro1461=) c.1821T>C n.7105T>C c.7089T>C (p.Pro2363=) c.7011T>C (p.Pro2337=) c.4395T>C (p.Pro1465=) c.6996T>C (p.Pro2332=) c.210T>C (p.Pro70=) n.7108T>C | gnomAD v4 |
| 5 | g.90692745T>G | CA445404569 | ADGRV1 | c.7092T>G (p.Pro2364=) c.265+16536T>G (n.265+16536T>G) n.2551T>G c.899T>G n.236T>G c.4383T>G (p.Pro1461=) c.1821T>G n.7105T>G c.7089T>G (p.Pro2363=) c.7011T>G (p.Pro2337=) c.4395T>G (p.Pro1465=) c.6996T>G (p.Pro2332=) c.210T>G (p.Pro70=) n.7108T>G | |
| 5 | g.90692745T= | CA1562859314 | ADGRV1 | c.7092T= (p.Pro2364=) c.265+16536T= (n.265+16536T=) n.2551T= c.899T= n.236T= c.4383T= (p.Pro1461=) c.1821T= n.7105T= c.7089T= (p.Pro2363=) c.7011T= (p.Pro2337=) c.4395T= (p.Pro1465=) c.6996T= (p.Pro2332=) c.210T= (p.Pro70=) n.7108T= | |
| 5 | g.90692746C>A | CA360371769 | ADGRV1 | c.7093C>A (p.Leu2365Met) c.265+16537C>A (n.265+16537C>A) n.2552C>A c.900C>A n.237C>A c.4384C>A (p.Leu1462Met) c.1822C>A n.7106C>A c.7090C>A (p.Leu2364Met) c.7012C>A (p.Leu2338Met) c.4396C>A (p.Leu1466Met) c.6997C>A (p.Leu2333Met) c.211C>A (p.Leu71Met) n.7109C>A | |
| 5 | g.90692746C>G | CA360371770 | ADGRV1 | c.7093C>G (p.Leu2365Val) c.265+16537C>G (n.265+16537C>G) n.2552C>G c.900C>G n.237C>G c.4384C>G (p.Leu1462Val) c.1822C>G n.7106C>G c.7090C>G (p.Leu2364Val) c.7012C>G (p.Leu2338Val) c.4396C>G (p.Leu1466Val) c.6997C>G (p.Leu2333Val) c.211C>G (p.Leu71Val) n.7109C>G | |
| 5 | g.90692746C>T | CA445404572 | ADGRV1 | c.7093C>T (p.Leu2365=) c.265+16537C>T (n.265+16537C>T) n.2552C>T c.900C>T n.237C>T c.4384C>T (p.Leu1462=) c.1822C>T n.7106C>T c.7090C>T (p.Leu2364=) c.7012C>T (p.Leu2338=) c.4396C>T (p.Leu1466=) c.6997C>T (p.Leu2333=) c.211C>T (p.Leu71=) n.7109C>T | gnomAD v4 |
| 5 | g.90692747T>A | CA360371775 | ADGRV1 | c.7094T>A (p.Leu2365Gln) c.265+16538T>A (n.265+16538T>A) n.2553T>A c.901T>A n.238T>A c.4385T>A (p.Leu1462Gln) c.1823T>A n.7107T>A c.7091T>A (p.Leu2364Gln) c.7013T>A (p.Leu2338Gln) c.4397T>A (p.Leu1466Gln) c.6998T>A (p.Leu2333Gln) c.212T>A (p.Leu71Gln) n.7110T>A | |
| 5 | g.90692747T>C | CA360371787 | ADGRV1 | c.7094T>C (p.Leu2365Pro) c.265+16538T>C (n.265+16538T>C) n.2553T>C c.901T>C n.238T>C c.4385T>C (p.Leu1462Pro) c.1823T>C n.7107T>C c.7091T>C (p.Leu2364Pro) c.7013T>C (p.Leu2338Pro) c.4397T>C (p.Leu1466Pro) c.6998T>C (p.Leu2333Pro) c.212T>C (p.Leu71Pro) n.7110T>C | |
| 5 | g.90692747T>G | CA360371776 | ADGRV1 | c.7094T>G (p.Leu2365Arg) c.265+16538T>G (n.265+16538T>G) n.2553T>G c.901T>G n.238T>G c.4385T>G (p.Leu1462Arg) c.1823T>G n.7107T>G c.7091T>G (p.Leu2364Arg) c.7013T>G (p.Leu2338Arg) c.4397T>G (p.Leu1466Arg) c.6998T>G (p.Leu2333Arg) c.212T>G (p.Leu71Arg) n.7110T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90692747T= | CA1562859315 | ADGRV1 | c.7094T= (p.Leu2365=) c.265+16538T= (n.265+16538T=) n.2553T= c.901T= n.238T= c.4385T= (p.Leu1462=) c.1823T= n.7107T= c.7091T= (p.Leu2364=) c.7013T= (p.Leu2338=) c.4397T= (p.Leu1466=) c.6998T= (p.Leu2333=) c.212T= (p.Leu71=) n.7110T= | |
| 5 | g.90692748G>A | CA244177 | ADGRV1 | c.7095G>A (p.Leu2365=) c.265+16539G>A (n.265+16539G>A) n.2554G>A c.902G>A n.239G>A c.4386G>A (p.Leu1462=) c.1824G>A n.7108G>A c.7092G>A (p.Leu2364=) c.7014G>A (p.Leu2338=) c.4398G>A (p.Leu1466=) c.6999G>A (p.Leu2333=) c.213G>A (p.Leu71=) n.7111G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90692748G>C | CA445404574 | ADGRV1 | c.7095G>C (p.Leu2365=) c.265+16539G>C (n.265+16539G>C) n.2554G>C c.902G>C n.239G>C c.4386G>C (p.Leu1462=) c.1824G>C n.7108G>C c.7092G>C (p.Leu2364=) c.7014G>C (p.Leu2338=) c.4398G>C (p.Leu1466=) c.6999G>C (p.Leu2333=) c.213G>C (p.Leu71=) n.7111G>C | |
| 5 | g.90692748G= | CA1562859316 | ADGRV1 | c.7095G= (p.Leu2365=) c.265+16539G= (n.265+16539G=) n.2554G= c.902G= n.239G= c.4386G= (p.Leu1462=) c.1824G= n.7108G= c.7092G= (p.Leu2364=) c.7014G= (p.Leu2338=) c.4398G= (p.Leu1466=) c.6999G= (p.Leu2333=) c.213G= (p.Leu71=) n.7111G= | |
| 5 | g.90692748G>T | CA445404575 | ADGRV1 | c.7095G>T (p.Leu2365=) c.265+16539G>T (n.265+16539G>T) n.2554G>T c.902G>T n.239G>T c.4386G>T (p.Leu1462=) c.1824G>T n.7108G>T c.7092G>T (p.Leu2364=) c.7014G>T (p.Leu2338=) c.4398G>T (p.Leu1466=) c.6999G>T (p.Leu2333=) c.213G>T (p.Leu71=) n.7111G>T | dbSNP |
| 5 | g.90692749G>A | CA360371790 | ADGRV1 | c.7096G>A (p.Glu2366Lys) c.265+16540G>A (n.265+16540G>A) n.2555G>A c.903G>A n.240G>A c.4387G>A (p.Glu1463Lys) c.1825G>A n.7109G>A c.7093G>A (p.Glu2365Lys) c.7015G>A (p.Glu2339Lys) c.4399G>A (p.Glu1467Lys) c.7000G>A (p.Glu2334Lys) c.214G>A (p.Glu72Lys) n.7112G>A | |
| 5 | g.90692749G>C | CA360371791 | ADGRV1 | c.7096G>C (p.Glu2366Gln) c.265+16540G>C (n.265+16540G>C) n.2555G>C c.903G>C n.240G>C c.4387G>C (p.Glu1463Gln) c.1825G>C n.7109G>C c.7093G>C (p.Glu2365Gln) c.7015G>C (p.Glu2339Gln) c.4399G>C (p.Glu1467Gln) c.7000G>C (p.Glu2334Gln) c.214G>C (p.Glu72Gln) n.7112G>C | |
| 5 | g.90692749G>T | CA360371795 | ADGRV1 | c.7096G>T (p.Glu2366Ter) c.265+16540G>T (n.265+16540G>T) n.2555G>T c.903G>T n.240G>T c.4387G>T (p.Glu1463Ter) c.1825G>T n.7109G>T c.7093G>T (p.Glu2365Ter) c.7015G>T (p.Glu2339Ter) c.4399G>T (p.Glu1467Ter) c.7000G>T (p.Glu2334Ter) c.214G>T (p.Glu72Ter) n.7112G>T | gnomAD v4 |
| 5 | g.90692750A>C | CA360371798 | ADGRV1 | c.7097A>C (p.Glu2366Ala) c.265+16541A>C (n.265+16541A>C) n.2556A>C c.904A>C n.241A>C c.4388A>C (p.Glu1463Ala) c.1826A>C n.7110A>C c.7094A>C (p.Glu2365Ala) c.7016A>C (p.Glu2339Ala) c.4400A>C (p.Glu1467Ala) c.7001A>C (p.Glu2334Ala) c.215A>C (p.Glu72Ala) n.7113A>C | |
| 5 | g.90692750A>G | CA360371799 | ADGRV1 | c.7097A>G (p.Glu2366Gly) c.265+16541A>G (n.265+16541A>G) n.2556A>G c.904A>G n.241A>G c.4388A>G (p.Glu1463Gly) c.1826A>G n.7110A>G c.7094A>G (p.Glu2365Gly) c.7016A>G (p.Glu2339Gly) c.4400A>G (p.Glu1467Gly) c.7001A>G (p.Glu2334Gly) c.215A>G (p.Glu72Gly) n.7113A>G | ClinVar dbSNP |
| 5 | g.90692750A>T | CA360371800 | ADGRV1 | c.7097A>T (p.Glu2366Val) c.265+16541A>T (n.265+16541A>T) n.2556A>T c.904A>T n.241A>T c.4388A>T (p.Glu1463Val) c.1826A>T n.7110A>T c.7094A>T (p.Glu2365Val) c.7016A>T (p.Glu2339Val) c.4400A>T (p.Glu1467Val) c.7001A>T (p.Glu2334Val) c.215A>T (p.Glu72Val) n.7113A>T | |
| 5 | g.90692751A>C | CA360371805 | ADGRV1 | c.7098A>C (p.Glu2366Asp) c.265+16542A>C (n.265+16542A>C) n.2557A>C c.905A>C n.242A>C c.4389A>C (p.Glu1463Asp) c.1827A>C n.7111A>C c.7095A>C (p.Glu2365Asp) c.7017A>C (p.Glu2339Asp) c.4401A>C (p.Glu1467Asp) c.7002A>C (p.Glu2334Asp) c.216A>C (p.Glu72Asp) n.7114A>C | |
| 5 | g.90692751A>G | CA445404577 | ADGRV1 | c.7098A>G (p.Glu2366=) c.265+16542A>G (n.265+16542A>G) n.2557A>G c.905A>G n.242A>G c.4389A>G (p.Glu1463=) c.1827A>G n.7111A>G c.7095A>G (p.Glu2365=) c.7017A>G (p.Glu2339=) c.4401A>G (p.Glu1467=) c.7002A>G (p.Glu2334=) c.216A>G (p.Glu72=) n.7114A>G | |
| 5 | g.90692751A>T | CA360371809 | ADGRV1 | c.7098A>T (p.Glu2366Asp) c.265+16542A>T (n.265+16542A>T) n.2557A>T c.905A>T n.242A>T c.4389A>T (p.Glu1463Asp) c.1827A>T n.7111A>T c.7095A>T (p.Glu2365Asp) c.7017A>T (p.Glu2339Asp) c.4401A>T (p.Glu1467Asp) c.7002A>T (p.Glu2334Asp) c.216A>T (p.Glu72Asp) n.7114A>T | |
| 5 | g.90692752A= | CA1562859317 | ADGRV1 | c.7099A= (p.Arg2367=) c.265+16543A= (n.265+16543A=) n.2558A= c.906A= n.243A= c.4390A= (p.Arg1464=) c.1828A= n.7112A= c.7096A= (p.Arg2366=) c.7018A= (p.Arg2340=) c.4402A= (p.Arg1468=) c.7003A= (p.Arg2335=) c.217A= (p.Arg73=) n.7115A= | |
| 5 | g.90692752A>C | CA445404578 | ADGRV1 | c.7099A>C (p.Arg2367=) c.265+16543A>C (n.265+16543A>C) n.2558A>C c.906A>C n.243A>C c.4390A>C (p.Arg1464=) c.1828A>C n.7112A>C c.7096A>C (p.Arg2366=) c.7018A>C (p.Arg2340=) c.4402A>C (p.Arg1468=) c.7003A>C (p.Arg2335=) c.217A>C (p.Arg73=) n.7115A>C | |
| 5 | g.90692752A>G | CA360371810 | ADGRV1 | c.7099A>G (p.Arg2367Gly) c.265+16543A>G (n.265+16543A>G) n.2558A>G c.906A>G n.243A>G c.4390A>G (p.Arg1464Gly) c.1828A>G n.7112A>G c.7096A>G (p.Arg2366Gly) c.7018A>G (p.Arg2340Gly) c.4402A>G (p.Arg1468Gly) c.7003A>G (p.Arg2335Gly) c.217A>G (p.Arg73Gly) n.7115A>G | dbSNP gnomAD v4 |
| 5 | g.90692752A>T | CA360371811 | ADGRV1 | c.7099A>T (p.Arg2367Ter) c.265+16543A>T (n.265+16543A>T) n.2558A>T c.906A>T n.243A>T c.4390A>T (p.Arg1464Ter) c.1828A>T n.7112A>T c.7096A>T (p.Arg2366Ter) c.7018A>T (p.Arg2340Ter) c.4402A>T (p.Arg1468Ter) c.7003A>T (p.Arg2335Ter) c.217A>T (p.Arg73Ter) n.7115A>T | gnomAD v4 |
| 5 | g.90692753G>A | CA360371813 | ADGRV1 | c.7100G>A (p.Arg2367Lys) c.265+16544G>A (n.265+16544G>A) n.2559G>A c.907G>A n.244G>A c.4391G>A (p.Arg1464Lys) c.1829G>A n.7113G>A c.7097G>A (p.Arg2366Lys) c.7019G>A (p.Arg2340Lys) c.4403G>A (p.Arg1468Lys) c.7004G>A (p.Arg2335Lys) c.218G>A (p.Arg73Lys) n.7116G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90692753G>C | CA360371817 | ADGRV1 | c.7100G>C (p.Arg2367Thr) c.265+16544G>C (n.265+16544G>C) n.2559G>C c.907G>C n.244G>C c.4391G>C (p.Arg1464Thr) c.1829G>C n.7113G>C c.7097G>C (p.Arg2366Thr) c.7019G>C (p.Arg2340Thr) c.4403G>C (p.Arg1468Thr) c.7004G>C (p.Arg2335Thr) c.218G>C (p.Arg73Thr) n.7116G>C | |
| 5 | g.90692753G= | CA1562859318 | ADGRV1 | c.7100G= (p.Arg2367=) c.265+16544G= (n.265+16544G=) n.2559G= c.907G= n.244G= c.4391G= (p.Arg1464=) c.1829G= n.7113G= c.7097G= (p.Arg2366=) c.7019G= (p.Arg2340=) c.4403G= (p.Arg1468=) c.7004G= (p.Arg2335=) c.218G= (p.Arg73=) n.7116G= | |
| 5 | g.90692753G>T | CA360371820 | ADGRV1 | c.7100G>T (p.Arg2367Ile) c.265+16544G>T (n.265+16544G>T) n.2559G>T c.907G>T n.244G>T c.4391G>T (p.Arg1464Ile) c.1829G>T n.7113G>T c.7097G>T (p.Arg2366Ile) c.7019G>T (p.Arg2340Ile) c.4403G>T (p.Arg1468Ile) c.7004G>T (p.Arg2335Ile) c.218G>T (p.Arg73Ile) n.7116G>T | |
| 5 | g.90692754A>C | CA360371839 | ADGRV1 | c.7101A>C (p.Arg2367Ser) c.265+16545A>C (n.265+16545A>C) n.2560A>C c.908A>C n.245A>C c.4392A>C (p.Arg1464Ser) c.1830A>C n.7114A>C c.7098A>C (p.Arg2366Ser) c.7020A>C (p.Arg2340Ser) c.4404A>C (p.Arg1468Ser) c.7005A>C (p.Arg2335Ser) c.219A>C (p.Arg73Ser) n.7117A>C | |
| 5 | g.90692754A>G | CA445404579 | ADGRV1 | c.7101A>G (p.Arg2367=) c.265+16545A>G (n.265+16545A>G) n.2560A>G c.908A>G n.245A>G c.4392A>G (p.Arg1464=) c.1830A>G n.7114A>G c.7098A>G (p.Arg2366=) c.7020A>G (p.Arg2340=) c.4404A>G (p.Arg1468=) c.7005A>G (p.Arg2335=) c.219A>G (p.Arg73=) n.7117A>G | |
| 5 | g.90692754A>T | CA360371848 | ADGRV1 | c.7101A>T (p.Arg2367Ser) c.265+16545A>T (n.265+16545A>T) n.2560A>T c.908A>T n.245A>T c.4392A>T (p.Arg1464Ser) c.1830A>T n.7114A>T c.7098A>T (p.Arg2366Ser) c.7020A>T (p.Arg2340Ser) c.4404A>T (p.Arg1468Ser) c.7005A>T (p.Arg2335Ser) c.219A>T (p.Arg73Ser) n.7117A>T | |
| 5 | g.90692755A>C | CA360371853 | ADGRV1 | c.7102A>C (p.Ser2368Arg) c.265+16546A>C (n.265+16546A>C) n.2561A>C c.909A>C n.246A>C c.4393A>C (p.Ser1465Arg) c.1831A>C n.7115A>C c.7099A>C (p.Ser2367Arg) c.7021A>C (p.Ser2341Arg) c.4405A>C (p.Ser1469Arg) c.7006A>C (p.Ser2336Arg) c.220A>C (p.Ser74Arg) n.7118A>C | COSMIC |
| 5 | g.90692755A>G | CA360371864 | ADGRV1 | c.7102A>G (p.Ser2368Gly) c.265+16546A>G (n.265+16546A>G) n.2561A>G c.909A>G n.246A>G c.4393A>G (p.Ser1465Gly) c.1831A>G n.7115A>G c.7099A>G (p.Ser2367Gly) c.7021A>G (p.Ser2341Gly) c.4405A>G (p.Ser1469Gly) c.7006A>G (p.Ser2336Gly) c.220A>G (p.Ser74Gly) n.7118A>G | COSMIC |
| 5 | g.90692755A>T | CA360371865 | ADGRV1 | c.7102A>T (p.Ser2368Cys) c.265+16546A>T (n.265+16546A>T) n.2561A>T c.909A>T n.246A>T c.4393A>T (p.Ser1465Cys) c.1831A>T n.7115A>T c.7099A>T (p.Ser2367Cys) c.7021A>T (p.Ser2341Cys) c.4405A>T (p.Ser1469Cys) c.7006A>T (p.Ser2336Cys) c.220A>T (p.Ser74Cys) n.7118A>T | |
| 5 | g.90692756G>A | CA360371869 | ADGRV1 | c.7103G>A (p.Ser2368Asn) c.265+16547G>A (n.265+16547G>A) n.2562G>A c.910G>A n.247G>A c.4394G>A (p.Ser1465Asn) c.1832G>A n.7116G>A c.7100G>A (p.Ser2367Asn) c.7022G>A (p.Ser2341Asn) c.4406G>A (p.Ser1469Asn) c.7007G>A (p.Ser2336Asn) c.221G>A (p.Ser74Asn) n.7119G>A | |
| 5 | g.90692756G>C | CA360371872 | ADGRV1 | c.7103G>C (p.Ser2368Thr) c.265+16547G>C (n.265+16547G>C) n.2562G>C c.910G>C n.247G>C c.4394G>C (p.Ser1465Thr) c.1832G>C n.7116G>C c.7100G>C (p.Ser2367Thr) c.7022G>C (p.Ser2341Thr) c.4406G>C (p.Ser1469Thr) c.7007G>C (p.Ser2336Thr) c.221G>C (p.Ser74Thr) n.7119G>C |