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 |
|---|---|---|---|---|---|
| 16 | g.50712049G>A | CA150244 | NOD2 | c.2057G>A (p.Arg686His) c.2138G>A (p.Arg713His) c.1634G>A (p.Arg545His) c.1472G>A (p.Arg491His) n.2147G>A c.1565G>A (p.Arg522His) n.2100G>A n.2122G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712049G>C | CA395871056 | NOD2 | c.2057G>C (p.Arg686Pro) c.2138G>C (p.Arg713Pro) c.1634G>C (p.Arg545Pro) c.1472G>C (p.Arg491Pro) n.2147G>C c.1565G>C (p.Arg522Pro) n.2100G>C n.2122G>C | |
| 16 | g.50712049G= | CA2221862557 | NOD2 | c.2057G= (p.Arg686=) c.2138G= (p.Arg713=) c.1634G= (p.Arg545=) c.1472G= (p.Arg491=) n.2147G= c.1565G= (p.Arg522=) n.2100G= n.2122G= | |
| 16 | g.50712049G>T | CA395871058 | NOD2 | c.2057G>T (p.Arg686Leu) c.2138G>T (p.Arg713Leu) c.1634G>T (p.Arg545Leu) c.1472G>T (p.Arg491Leu) n.2147G>T c.1565G>T (p.Arg522Leu) n.2100G>T n.2122G>T | dbSNP gnomAD v4 |
| 16 | g.50712050C>A | CA495779451 | NOD2 | c.2058C>A (p.Arg686=) c.2139C>A (p.Arg713=) c.1635C>A (p.Arg545=) c.1473C>A (p.Arg491=) n.2148C>A c.1566C>A (p.Arg522=) n.2101C>A n.2123C>A | |
| 16 | g.50712050C>G | CA495779452 | NOD2 | c.2058C>G (p.Arg686=) c.2139C>G (p.Arg713=) c.1635C>G (p.Arg545=) c.1473C>G (p.Arg491=) n.2148C>G c.1566C>G (p.Arg522=) n.2101C>G n.2123C>G | |
| 16 | g.50712050C>T | CA495779454 | NOD2 | c.2058C>T (p.Arg686=) c.2139C>T (p.Arg713=) c.1635C>T (p.Arg545=) c.1473C>T (p.Arg491=) n.2148C>T c.1566C>T (p.Arg522=) n.2101C>T n.2123C>T | |
| 16 | g.50712051A>C | CA395871061 | NOD2 | c.2059A>C (p.Ser687Arg) c.2140A>C (p.Ser714Arg) c.1636A>C (p.Ser546Arg) c.1474A>C (p.Ser492Arg) n.2149A>C c.1567A>C (p.Ser523Arg) n.2102A>C n.2124A>C | |
| 16 | g.50712051A>G | CA395871062 | NOD2 | c.2059A>G (p.Ser687Gly) c.2140A>G (p.Ser714Gly) c.1636A>G (p.Ser546Gly) c.1474A>G (p.Ser492Gly) n.2149A>G c.1567A>G (p.Ser523Gly) n.2102A>G n.2124A>G | |
| 16 | g.50712051A>T | CA395871063 | NOD2 | c.2059A>T (p.Ser687Cys) c.2140A>T (p.Ser714Cys) c.1636A>T (p.Ser546Cys) c.1474A>T (p.Ser492Cys) n.2149A>T c.1567A>T (p.Ser523Cys) n.2102A>T n.2124A>T | |
| 16 | g.50712052G>A | CA395871068 | NOD2 | c.2060G>A (p.Ser687Asn) c.2141G>A (p.Ser714Asn) c.1637G>A (p.Ser546Asn) c.1475G>A (p.Ser492Asn) n.2150G>A c.1568G>A (p.Ser523Asn) n.2103G>A n.2125G>A | |
| 16 | g.50712052G>C | CA395871065 | NOD2 | c.2060G>C (p.Ser687Thr) c.2141G>C (p.Ser714Thr) c.1637G>C (p.Ser546Thr) c.1475G>C (p.Ser492Thr) n.2150G>C c.1568G>C (p.Ser523Thr) n.2103G>C n.2125G>C | |
| 16 | g.50712052G>T | CA395871066 | NOD2 | c.2060G>T (p.Ser687Ile) c.2141G>T (p.Ser714Ile) c.1637G>T (p.Ser546Ile) c.1475G>T (p.Ser492Ile) n.2150G>T c.1568G>T (p.Ser523Ile) n.2103G>T n.2125G>T | |
| 16 | g.50712053C>A | CA395871070 | NOD2 | c.2061C>A (p.Ser687Arg) c.2142C>A (p.Ser714Arg) c.1638C>A (p.Ser546Arg) c.1476C>A (p.Ser492Arg) n.2151C>A c.1569C>A (p.Ser523Arg) n.2104C>A n.2126C>A | |
| 16 | g.50712053C= | CA2221862561 | NOD2 | c.2061C= (p.Ser687=) c.2142C= (p.Ser714=) c.1638C= (p.Ser546=) c.1476C= (p.Ser492=) n.2151C= c.1569C= (p.Ser523=) n.2104C= n.2126C= | |
| 16 | g.50712053C>G | CA395871072 | NOD2 | c.2061C>G (p.Ser687Arg) c.2142C>G (p.Ser714Arg) c.1638C>G (p.Ser546Arg) c.1476C>G (p.Ser492Arg) n.2151C>G c.1569C>G (p.Ser523Arg) n.2104C>G n.2126C>G | |
| 16 | g.50712053C>T | CA495779459 | NOD2 | c.2061C>T (p.Ser687=) c.2142C>T (p.Ser714=) c.1638C>T (p.Ser546=) c.1476C>T (p.Ser492=) n.2151C>T c.1569C>T (p.Ser523=) n.2104C>T n.2126C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712054C>A | CA395871074 | NOD2 | c.2062C>A (p.Leu688Ile) c.2143C>A (p.Leu715Ile) c.1639C>A (p.Leu547Ile) c.1477C>A (p.Leu493Ile) n.2152C>A c.1570C>A (p.Leu524Ile) n.2105C>A n.2127C>A | |
| 16 | g.50712054C>G | CA395871076 | NOD2 | c.2062C>G (p.Leu688Val) c.2143C>G (p.Leu715Val) c.1639C>G (p.Leu547Val) c.1477C>G (p.Leu493Val) n.2152C>G c.1570C>G (p.Leu524Val) n.2105C>G n.2127C>G | |
| 16 | g.50712054C>T | CA395871077 | NOD2 | c.2062C>T (p.Leu688Phe) c.2143C>T (p.Leu715Phe) c.1639C>T (p.Leu547Phe) c.1477C>T (p.Leu493Phe) n.2152C>T c.1570C>T (p.Leu524Phe) n.2105C>T n.2127C>T | |
| 16 | g.50712055T>A | CA395871080 | NOD2 | c.2063T>A (p.Leu688His) c.2144T>A (p.Leu715His) c.1640T>A (p.Leu547His) c.1478T>A (p.Leu493His) n.2153T>A c.1571T>A (p.Leu524His) n.2106T>A n.2128T>A | |
| 16 | g.50712055T>C | CA395871083 | NOD2 | c.2063T>C (p.Leu688Pro) c.2144T>C (p.Leu715Pro) c.1640T>C (p.Leu547Pro) c.1478T>C (p.Leu493Pro) n.2153T>C c.1571T>C (p.Leu524Pro) n.2106T>C n.2128T>C | |
| 16 | g.50712055T>G | CA395871082 | NOD2 | c.2063T>G (p.Leu688Arg) c.2144T>G (p.Leu715Arg) c.1640T>G (p.Leu547Arg) c.1478T>G (p.Leu493Arg) n.2153T>G c.1571T>G (p.Leu524Arg) n.2106T>G n.2128T>G | |
| 16 | g.50712056C>A | CA495779468 | NOD2 | c.2064C>A (p.Leu688=) c.2145C>A (p.Leu715=) c.1641C>A (p.Leu547=) c.1479C>A (p.Leu493=) n.2154C>A c.1572C>A (p.Leu524=) n.2107C>A n.2129C>A | |
| 16 | g.50712056C>G | CA495779467 | NOD2 | c.2064C>G (p.Leu688=) c.2145C>G (p.Leu715=) c.1641C>G (p.Leu547=) c.1479C>G (p.Leu493=) n.2154C>G c.1572C>G (p.Leu524=) n.2107C>G n.2129C>G | |
| 16 | g.50712056C>T | CA495779466 | NOD2 | c.2064C>T (p.Leu688=) c.2145C>T (p.Leu715=) c.1641C>T (p.Leu547=) c.1479C>T (p.Leu493=) n.2154C>T c.1572C>T (p.Leu524=) n.2107C>T n.2129C>T | |
| 16 | g.50712057C>A | CA395871086 | NOD2 | c.2065C>A (p.Arg689Ser) c.2146C>A (p.Arg716Ser) c.1642C>A (p.Arg548Ser) c.1480C>A (p.Arg494Ser) n.2155C>A c.1573C>A (p.Arg525Ser) n.2108C>A n.2130C>A | |
| 16 | g.50712057C= | CA2221862564 | NOD2 | c.2065C= (p.Arg689=) c.2146C= (p.Arg716=) c.1642C= (p.Arg548=) c.1480C= (p.Arg494=) n.2155C= c.1573C= (p.Arg525=) n.2108C= n.2130C= | |
| 16 | g.50712057C>G | CA395871088 | NOD2 | c.2065C>G (p.Arg689Gly) c.2146C>G (p.Arg716Gly) c.1642C>G (p.Arg548Gly) c.1480C>G (p.Arg494Gly) n.2155C>G c.1573C>G (p.Arg525Gly) n.2108C>G n.2130C>G | gnomAD v4 |
| 16 | g.50712057C>T | CA8051706 | NOD2 | c.2065C>T (p.Arg689Cys) c.2146C>T (p.Arg716Cys) c.1642C>T (p.Arg548Cys) c.1480C>T (p.Arg494Cys) n.2155C>T c.1573C>T (p.Arg525Cys) n.2108C>T n.2130C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712058G>A | CA8051707 | NOD2 | c.2066G>A (p.Arg689His) c.2147G>A (p.Arg716His) c.1643G>A (p.Arg548His) c.1481G>A (p.Arg494His) n.2156G>A c.1574G>A (p.Arg525His) n.2109G>A n.2131G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712058G>C | CA395871092 | NOD2 | c.2066G>C (p.Arg689Pro) c.2147G>C (p.Arg716Pro) c.1643G>C (p.Arg548Pro) c.1481G>C (p.Arg494Pro) n.2156G>C c.1574G>C (p.Arg525Pro) n.2109G>C n.2131G>C | |
| 16 | g.50712058G= | CA2221862568 | NOD2 | c.2066G= (p.Arg689=) c.2147G= (p.Arg716=) c.1643G= (p.Arg548=) c.1481G= (p.Arg494=) n.2156G= c.1574G= (p.Arg525=) n.2109G= n.2131G= | |
| 16 | g.50712058G>T | CA395871093 | NOD2 | c.2066G>T (p.Arg689Leu) c.2147G>T (p.Arg716Leu) c.1643G>T (p.Arg548Leu) c.1481G>T (p.Arg494Leu) n.2156G>T c.1574G>T (p.Arg525Leu) n.2109G>T n.2131G>T | ClinVar gnomAD v4 |
| 16 | g.50712059C>A | CA495779476 | NOD2 | c.2067C>A (p.Arg689=) c.2148C>A (p.Arg716=) c.1644C>A (p.Arg548=) c.1482C>A (p.Arg494=) n.2157C>A c.1575C>A (p.Arg525=) n.2110C>A n.2132C>A | |
| 16 | g.50712059C>G | CA495779475 | NOD2 | c.2067C>G (p.Arg689=) c.2148C>G (p.Arg716=) c.1644C>G (p.Arg548=) c.1482C>G (p.Arg494=) n.2157C>G c.1575C>G (p.Arg525=) n.2110C>G n.2132C>G | |
| 16 | g.50712059C>T | CA495779474 | NOD2 | c.2067C>T (p.Arg689=) c.2148C>T (p.Arg716=) c.1644C>T (p.Arg548=) c.1482C>T (p.Arg494=) n.2157C>T c.1575C>T (p.Arg525=) n.2110C>T n.2132C>T | ClinVar |
| 16 | g.50712060A>C | CA395871096 | NOD2 | c.2068A>C (p.Lys690Gln) c.2149A>C (p.Lys717Gln) c.1645A>C (p.Lys549Gln) c.1483A>C (p.Lys495Gln) n.2158A>C c.1576A>C (p.Lys526Gln) n.2111A>C n.2133A>C | |
| 16 | g.50712060A>G | CA395871098 | NOD2 | c.2068A>G (p.Lys690Glu) c.2149A>G (p.Lys717Glu) c.1645A>G (p.Lys549Glu) c.1483A>G (p.Lys495Glu) n.2158A>G c.1576A>G (p.Lys526Glu) n.2111A>G n.2133A>G | |
| 16 | g.50712060A>T | CA395871099 | NOD2 | c.2068A>T (p.Lys690Ter) c.2149A>T (p.Lys717Ter) c.1645A>T (p.Lys549Ter) c.1483A>T (p.Lys495Ter) n.2158A>T c.1576A>T (p.Lys526Ter) n.2111A>T n.2133A>T | |
| 16 | g.50712061A>C | CA395871102 | NOD2 | c.2069A>C (p.Lys690Thr) c.2150A>C (p.Lys717Thr) c.1646A>C (p.Lys549Thr) c.1484A>C (p.Lys495Thr) n.2159A>C c.1577A>C (p.Lys526Thr) n.2112A>C n.2134A>C | |
| 16 | g.50712061A>G | CA395871103 | NOD2 | c.2069A>G (p.Lys690Arg) c.2150A>G (p.Lys717Arg) c.1646A>G (p.Lys549Arg) c.1484A>G (p.Lys495Arg) n.2159A>G c.1577A>G (p.Lys526Arg) n.2112A>G n.2134A>G | gnomAD v4 |
| 16 | g.50712061A>T | CA395871105 | NOD2 | c.2069A>T (p.Lys690Met) c.2150A>T (p.Lys717Met) c.1646A>T (p.Lys549Met) c.1484A>T (p.Lys495Met) n.2159A>T c.1577A>T (p.Lys526Met) n.2112A>T n.2134A>T | |
| 16 | g.50712062G>A | CA495778995 | NOD2 | c.2070G>A (p.Lys690=) c.2151G>A (p.Lys717=) c.1647G>A (p.Lys549=) c.1485G>A (p.Lys495=) n.2160G>A c.1578G>A (p.Lys526=) n.2113G>A n.2135G>A | gnomAD v4 |
| 16 | g.50712062G>C | CA395871106 | NOD2 | c.2070G>C (p.Lys690Asn) c.2151G>C (p.Lys717Asn) c.1647G>C (p.Lys549Asn) c.1485G>C (p.Lys495Asn) n.2160G>C c.1578G>C (p.Lys526Asn) n.2113G>C n.2135G>C | dbSNP gnomAD v2 |
| 16 | g.50712062G= | CA2221862570 | NOD2 | c.2070G= (p.Lys690=) c.2151G= (p.Lys717=) c.1647G= (p.Lys549=) c.1485G= (p.Lys495=) n.2160G= c.1578G= (p.Lys526=) n.2113G= n.2135G= | |
| 16 | g.50712062G>T | CA395871107 | NOD2 | c.2070G>T (p.Lys690Asn) c.2151G>T (p.Lys717Asn) c.1647G>T (p.Lys549Asn) c.1485G>T (p.Lys495Asn) n.2160G>T c.1578G>T (p.Lys526Asn) n.2113G>T n.2135G>T | |
| 16 | g.50712063C>A | CA395871108 | NOD2 | c.2071C>A (p.His691Asn) c.2152C>A (p.His718Asn) c.1648C>A (p.His550Asn) c.1486C>A (p.His496Asn) n.2161C>A c.1579C>A (p.His527Asn) n.2114C>A n.2136C>A | |
| 16 | g.50712063C>G | CA395871110 | NOD2 | c.2071C>G (p.His691Asp) c.2152C>G (p.His718Asp) c.1648C>G (p.His550Asp) c.1486C>G (p.His496Asp) n.2161C>G c.1579C>G (p.His527Asp) n.2114C>G n.2136C>G | |
| 16 | g.50712063C>T | CA395871109 | NOD2 | c.2071C>T (p.His691Tyr) c.2152C>T (p.His718Tyr) c.1648C>T (p.His550Tyr) c.1486C>T (p.His496Tyr) n.2161C>T c.1579C>T (p.His527Tyr) n.2114C>T n.2136C>T |