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 |
|---|---|---|---|---|---|
| 6 | g.33171551C>A | CA449877986 | COL11A2 | c.3174G>T (p.Pro1058=) c.2853G>T (p.Pro951=) c.2916G>T (p.Pro972=) n.272+5458G>T c.2328G>T (p.Pro776=) c.2460G>T (p.Pro820=) c.2280G>T (p.Pro760=) c.2217G>T (p.Pro739=) c.2061G>T (p.Pro687=) c.1992G>T (p.Pro664=) | gnomAD v4 |
| 6 | g.33171551C= | CA1619897104 | COL11A2 | c.3174G= (p.Pro1058=) c.2853G= (p.Pro951=) c.2916G= (p.Pro972=) n.272+5458G= c.2328G= (p.Pro776=) c.2460G= (p.Pro820=) c.2280G= (p.Pro760=) c.2217G= (p.Pro739=) c.2061G= (p.Pro687=) c.1992G= (p.Pro664=) | |
| 6 | g.33171551C>G | CA449877988 | COL11A2 | c.3174G>C (p.Pro1058=) c.2853G>C (p.Pro951=) c.2916G>C (p.Pro972=) n.272+5458G>C c.2328G>C (p.Pro776=) c.2460G>C (p.Pro820=) c.2280G>C (p.Pro760=) c.2217G>C (p.Pro739=) c.2061G>C (p.Pro687=) c.1992G>C (p.Pro664=) | dbSNP |
| 6 | g.33171551C>T | CA138629 | COL11A2 | c.3174G>A (p.Pro1058=) c.2853G>A (p.Pro951=) c.2916G>A (p.Pro972=) n.272+5458G>A c.2328G>A (p.Pro776=) c.2460G>A (p.Pro820=) c.2280G>A (p.Pro760=) c.2217G>A (p.Pro739=) c.2061G>A (p.Pro687=) c.1992G>A (p.Pro664=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171552G>A | CA3750611 | COL11A2 | c.3173C>T (p.Pro1058Leu) c.2852C>T (p.Pro951Leu) c.2915C>T (p.Pro972Leu) n.272+5457C>T c.2327C>T (p.Pro776Leu) c.2459C>T (p.Pro820Leu) c.2279C>T (p.Pro760Leu) c.2216C>T (p.Pro739Leu) c.2060C>T (p.Pro687Leu) c.1991C>T (p.Pro664Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171552G>C | CA363636194 | COL11A2 | c.3173C>G (p.Pro1058Arg) c.2852C>G (p.Pro951Arg) c.2915C>G (p.Pro972Arg) n.272+5457C>G c.2327C>G (p.Pro776Arg) c.2459C>G (p.Pro820Arg) c.2279C>G (p.Pro760Arg) c.2216C>G (p.Pro739Arg) c.2060C>G (p.Pro687Arg) c.1991C>G (p.Pro664Arg) | |
| 6 | g.33171552G= | CA1619897105 | COL11A2 | c.3173C= (p.Pro1058=) c.2852C= (p.Pro951=) c.2915C= (p.Pro972=) n.272+5457C= c.2327C= (p.Pro776=) c.2459C= (p.Pro820=) c.2279C= (p.Pro760=) c.2216C= (p.Pro739=) c.2060C= (p.Pro687=) c.1991C= (p.Pro664=) | |
| 6 | g.33171552G>T | CA363636192 | COL11A2 | c.3173C>A (p.Pro1058Gln) c.2852C>A (p.Pro951Gln) c.2915C>A (p.Pro972Gln) n.272+5457C>A c.2327C>A (p.Pro776Gln) c.2459C>A (p.Pro820Gln) c.2279C>A (p.Pro760Gln) c.2216C>A (p.Pro739Gln) c.2060C>A (p.Pro687Gln) c.1991C>A (p.Pro664Gln) | |
| 6 | g.33171553G>A | CA363636196 | COL11A2 | c.3172C>T (p.Pro1058Ser) c.2851C>T (p.Pro951Ser) c.2914C>T (p.Pro972Ser) n.272+5456C>T c.2326C>T (p.Pro776Ser) c.2458C>T (p.Pro820Ser) c.2278C>T (p.Pro760Ser) c.2215C>T (p.Pro739Ser) c.2059C>T (p.Pro687Ser) c.1990C>T (p.Pro664Ser) | |
| 6 | g.33171553G>C | CA363636198 | COL11A2 | c.3172C>G (p.Pro1058Ala) c.2851C>G (p.Pro951Ala) c.2914C>G (p.Pro972Ala) n.272+5456C>G c.2326C>G (p.Pro776Ala) c.2458C>G (p.Pro820Ala) c.2278C>G (p.Pro760Ala) c.2215C>G (p.Pro739Ala) c.2059C>G (p.Pro687Ala) c.1990C>G (p.Pro664Ala) | |
| 6 | g.33171553G>T | CA363636200 | COL11A2 | c.3172C>A (p.Pro1058Thr) c.2851C>A (p.Pro951Thr) c.2914C>A (p.Pro972Thr) n.272+5456C>A c.2326C>A (p.Pro776Thr) c.2458C>A (p.Pro820Thr) c.2278C>A (p.Pro760Thr) c.2215C>A (p.Pro739Thr) c.2059C>A (p.Pro687Thr) c.1990C>A (p.Pro664Thr) | |
| 6 | g.33171554G>A | CA449878013 | COL11A2 | c.3171C>T (p.Gly1057=) c.2850C>T (p.Gly950=) c.2913C>T (p.Gly971=) n.272+5455C>T c.2325C>T (p.Gly775=) c.2457C>T (p.Gly819=) c.2277C>T (p.Gly759=) c.2214C>T (p.Gly738=) c.2058C>T (p.Gly686=) c.1989C>T (p.Gly663=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171554G>C | CA449878009 | COL11A2 | c.3171C>G (p.Gly1057=) c.2850C>G (p.Gly950=) c.2913C>G (p.Gly971=) n.272+5455C>G c.2325C>G (p.Gly775=) c.2457C>G (p.Gly819=) c.2277C>G (p.Gly759=) c.2214C>G (p.Gly738=) c.2058C>G (p.Gly686=) c.1989C>G (p.Gly663=) | |
| 6 | g.33171554G= | CA1619897106 | COL11A2 | c.3171C= (p.Gly1057=) c.2850C= (p.Gly950=) c.2913C= (p.Gly971=) n.272+5455C= c.2325C= (p.Gly775=) c.2457C= (p.Gly819=) c.2277C= (p.Gly759=) c.2214C= (p.Gly738=) c.2058C= (p.Gly686=) c.1989C= (p.Gly663=) | |
| 6 | g.33171554G>T | CA449878006 | COL11A2 | c.3171C>A (p.Gly1057=) c.2850C>A (p.Gly950=) c.2913C>A (p.Gly971=) n.272+5455C>A c.2325C>A (p.Gly775=) c.2457C>A (p.Gly819=) c.2277C>A (p.Gly759=) c.2214C>A (p.Gly738=) c.2058C>A (p.Gly686=) c.1989C>A (p.Gly663=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171555C>A | CA363636202 | COL11A2 | c.3170G>T (p.Gly1057Val) c.2849G>T (p.Gly950Val) c.2912G>T (p.Gly971Val) n.272+5454G>T c.2324G>T (p.Gly775Val) c.2456G>T (p.Gly819Val) c.2276G>T (p.Gly759Val) c.2213G>T (p.Gly738Val) c.2057G>T (p.Gly686Val) c.1988G>T (p.Gly663Val) | gnomAD v4 |
| 6 | g.33171555C>G | CA363636204 | COL11A2 | c.3170G>C (p.Gly1057Ala) c.2849G>C (p.Gly950Ala) c.2912G>C (p.Gly971Ala) n.272+5454G>C c.2324G>C (p.Gly775Ala) c.2456G>C (p.Gly819Ala) c.2276G>C (p.Gly759Ala) c.2213G>C (p.Gly738Ala) c.2057G>C (p.Gly686Ala) c.1988G>C (p.Gly663Ala) | |
| 6 | g.33171555C>T | CA363636205 | COL11A2 | c.3170G>A (p.Gly1057Asp) c.2849G>A (p.Gly950Asp) c.2912G>A (p.Gly971Asp) n.272+5454G>A c.2324G>A (p.Gly775Asp) c.2456G>A (p.Gly819Asp) c.2276G>A (p.Gly759Asp) c.2213G>A (p.Gly738Asp) c.2057G>A (p.Gly686Asp) c.1988G>A (p.Gly663Asp) | |
| 6 | g.33171556C>A | CA363636208 | COL11A2 | c.3169G>T (p.Gly1057Cys) c.2848G>T (p.Gly950Cys) c.2911G>T (p.Gly971Cys) n.272+5453G>T c.2323G>T (p.Gly775Cys) c.2455G>T (p.Gly819Cys) c.2275G>T (p.Gly759Cys) c.2212G>T (p.Gly738Cys) c.2056G>T (p.Gly686Cys) c.1987G>T (p.Gly663Cys) | |
| 6 | g.33171556C>G | CA363636210 | COL11A2 | c.3169G>C (p.Gly1057Arg) c.2848G>C (p.Gly950Arg) c.2911G>C (p.Gly971Arg) n.272+5453G>C c.2323G>C (p.Gly775Arg) c.2455G>C (p.Gly819Arg) c.2275G>C (p.Gly759Arg) c.2212G>C (p.Gly738Arg) c.2056G>C (p.Gly686Arg) c.1987G>C (p.Gly663Arg) | |
| 6 | g.33171556C>T | CA363636211 | COL11A2 | c.3169G>A (p.Gly1057Ser) c.2848G>A (p.Gly950Ser) c.2911G>A (p.Gly971Ser) n.272+5453G>A c.2323G>A (p.Gly775Ser) c.2455G>A (p.Gly819Ser) c.2275G>A (p.Gly759Ser) c.2212G>A (p.Gly738Ser) c.2056G>A (p.Gly686Ser) c.1987G>A (p.Gly663Ser) | |
| 6 | g.33171557A>C | CA363636213 | COL11A2 | c.3168T>G (p.Ile1056Met) c.2847T>G (p.Ile949Met) c.2910T>G (p.Ile970Met) n.272+5452T>G c.2322T>G (p.Ile774Met) c.2454T>G (p.Ile818Met) c.2274T>G (p.Ile758Met) c.2211T>G (p.Ile737Met) c.2055T>G (p.Ile685Met) c.1986T>G (p.Ile662Met) | |
| 6 | g.33171557A>G | CA449878027 | COL11A2 | c.3168T>C (p.Ile1056=) c.2847T>C (p.Ile949=) c.2910T>C (p.Ile970=) n.272+5452T>C c.2322T>C (p.Ile774=) c.2454T>C (p.Ile818=) c.2274T>C (p.Ile758=) c.2211T>C (p.Ile737=) c.2055T>C (p.Ile685=) c.1986T>C (p.Ile662=) | |
| 6 | g.33171557A>T | CA449878031 | COL11A2 | c.3168T>A (p.Ile1056=) c.2847T>A (p.Ile949=) c.2910T>A (p.Ile970=) n.272+5452T>A c.2322T>A (p.Ile774=) c.2454T>A (p.Ile818=) c.2274T>A (p.Ile758=) c.2211T>A (p.Ile737=) c.2055T>A (p.Ile685=) c.1986T>A (p.Ile662=) | |
| 6 | g.33171558A= | CA1619897107 | COL11A2 | c.3167T= (p.Ile1056=) c.2846T= (p.Ile949=) c.2909T= (p.Ile970=) n.272+5451T= c.2321T= (p.Ile774=) c.2453T= (p.Ile818=) c.2273T= (p.Ile758=) c.2210T= (p.Ile737=) c.2054T= (p.Ile685=) c.1985T= (p.Ile662=) | |
| 6 | g.33171558A>C | CA363636217 | COL11A2 | c.3167T>G (p.Ile1056Ser) c.2846T>G (p.Ile949Ser) c.2909T>G (p.Ile970Ser) n.272+5451T>G c.2321T>G (p.Ile774Ser) c.2453T>G (p.Ile818Ser) c.2273T>G (p.Ile758Ser) c.2210T>G (p.Ile737Ser) c.2054T>G (p.Ile685Ser) c.1985T>G (p.Ile662Ser) | |
| 6 | g.33171558A>G | CA3750612 | COL11A2 | c.3167T>C (p.Ile1056Thr) c.2846T>C (p.Ile949Thr) c.2909T>C (p.Ile970Thr) n.272+5451T>C c.2321T>C (p.Ile774Thr) c.2453T>C (p.Ile818Thr) c.2273T>C (p.Ile758Thr) c.2210T>C (p.Ile737Thr) c.2054T>C (p.Ile685Thr) c.1985T>C (p.Ile662Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171558A>T | CA363636216 | COL11A2 | c.3167T>A (p.Ile1056Asn) c.2846T>A (p.Ile949Asn) c.2909T>A (p.Ile970Asn) n.272+5451T>A c.2321T>A (p.Ile774Asn) c.2453T>A (p.Ile818Asn) c.2273T>A (p.Ile758Asn) c.2210T>A (p.Ile737Asn) c.2054T>A (p.Ile685Asn) c.1985T>A (p.Ile662Asn) | |
| 6 | g.33171559T>A | CA363636220 | COL11A2 | c.3166A>T (p.Ile1056Phe) c.2845A>T (p.Ile949Phe) c.2908A>T (p.Ile970Phe) n.272+5450A>T c.2320A>T (p.Ile774Phe) c.2452A>T (p.Ile818Phe) c.2272A>T (p.Ile758Phe) c.2209A>T (p.Ile737Phe) c.2053A>T (p.Ile685Phe) c.1984A>T (p.Ile662Phe) | |
| 6 | g.33171559T>C | CA363636222 | COL11A2 | c.3166A>G (p.Ile1056Val) c.2845A>G (p.Ile949Val) c.2908A>G (p.Ile970Val) n.272+5450A>G c.2320A>G (p.Ile774Val) c.2452A>G (p.Ile818Val) c.2272A>G (p.Ile758Val) c.2209A>G (p.Ile737Val) c.2053A>G (p.Ile685Val) c.1984A>G (p.Ile662Val) | |
| 6 | g.33171559T>G | CA3750613 | COL11A2 | c.3166A>C (p.Ile1056Leu) c.2845A>C (p.Ile949Leu) c.2908A>C (p.Ile970Leu) n.272+5450A>C c.2320A>C (p.Ile774Leu) c.2452A>C (p.Ile818Leu) c.2272A>C (p.Ile758Leu) c.2209A>C (p.Ile737Leu) c.2053A>C (p.Ile685Leu) c.1984A>C (p.Ile662Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33171559T= | CA1619897108 | COL11A2 | c.3166A= (p.Ile1056=) c.2845A= (p.Ile949=) c.2908A= (p.Ile970=) n.272+5450A= c.2320A= (p.Ile774=) c.2452A= (p.Ile818=) c.2272A= (p.Ile758=) c.2209A= (p.Ile737=) c.2053A= (p.Ile685=) c.1984A= (p.Ile662=) | |
| 6 | g.33171560G>A | CA449878049 | COL11A2 | c.3165C>T (p.Pro1055=) c.2844C>T (p.Pro948=) c.2907C>T (p.Pro969=) n.272+5449C>T c.2319C>T (p.Pro773=) c.2451C>T (p.Pro817=) c.2271C>T (p.Pro757=) c.2208C>T (p.Pro736=) c.2052C>T (p.Pro684=) c.1983C>T (p.Pro661=) | gnomAD v4 |
| 6 | g.33171560G>C | CA449878053 | COL11A2 | c.3165C>G (p.Pro1055=) c.2844C>G (p.Pro948=) c.2907C>G (p.Pro969=) n.272+5449C>G c.2319C>G (p.Pro773=) c.2451C>G (p.Pro817=) c.2271C>G (p.Pro757=) c.2208C>G (p.Pro736=) c.2052C>G (p.Pro684=) c.1983C>G (p.Pro661=) | |
| 6 | g.33171560G>T | CA449878051 | COL11A2 | c.3165C>A (p.Pro1055=) c.2844C>A (p.Pro948=) c.2907C>A (p.Pro969=) n.272+5449C>A c.2319C>A (p.Pro773=) c.2451C>A (p.Pro817=) c.2271C>A (p.Pro757=) c.2208C>A (p.Pro736=) c.2052C>A (p.Pro684=) c.1983C>A (p.Pro661=) | |
| 6 | g.33171561G>A | CA363636226 | COL11A2 | c.3164C>T (p.Pro1055Leu) c.2843C>T (p.Pro948Leu) c.2906C>T (p.Pro969Leu) n.272+5448C>T c.2318C>T (p.Pro773Leu) c.2450C>T (p.Pro817Leu) c.2270C>T (p.Pro757Leu) c.2207C>T (p.Pro736Leu) c.2051C>T (p.Pro684Leu) c.1982C>T (p.Pro661Leu) | |
| 6 | g.33171561G>C | CA363636228 | COL11A2 | c.3164C>G (p.Pro1055Arg) c.2843C>G (p.Pro948Arg) c.2906C>G (p.Pro969Arg) n.272+5448C>G c.2318C>G (p.Pro773Arg) c.2450C>G (p.Pro817Arg) c.2270C>G (p.Pro757Arg) c.2207C>G (p.Pro736Arg) c.2051C>G (p.Pro684Arg) c.1982C>G (p.Pro661Arg) | |
| 6 | g.33171561G>T | CA363636229 | COL11A2 | c.3164C>A (p.Pro1055His) c.2843C>A (p.Pro948His) c.2906C>A (p.Pro969His) n.272+5448C>A c.2318C>A (p.Pro773His) c.2450C>A (p.Pro817His) c.2270C>A (p.Pro757His) c.2207C>A (p.Pro736His) c.2051C>A (p.Pro684His) c.1982C>A (p.Pro661His) | |
| 6 | g.33171562G>A | CA3750614 | COL11A2 | c.3163C>T (p.Pro1055Ser) c.2842C>T (p.Pro948Ser) c.2905C>T (p.Pro969Ser) n.272+5447C>T c.2317C>T (p.Pro773Ser) c.2449C>T (p.Pro817Ser) c.2269C>T (p.Pro757Ser) c.2206C>T (p.Pro736Ser) c.2050C>T (p.Pro684Ser) c.1981C>T (p.Pro661Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33171562G>C | CA363636232 | COL11A2 | c.3163C>G (p.Pro1055Ala) c.2842C>G (p.Pro948Ala) c.2905C>G (p.Pro969Ala) n.272+5447C>G c.2317C>G (p.Pro773Ala) c.2449C>G (p.Pro817Ala) c.2269C>G (p.Pro757Ala) c.2206C>G (p.Pro736Ala) c.2050C>G (p.Pro684Ala) c.1981C>G (p.Pro661Ala) | |
| 6 | g.33171562G= | CA1619897109 | COL11A2 | c.3163C= (p.Pro1055=) c.2842C= (p.Pro948=) c.2905C= (p.Pro969=) n.272+5447C= c.2317C= (p.Pro773=) c.2449C= (p.Pro817=) c.2269C= (p.Pro757=) c.2206C= (p.Pro736=) c.2050C= (p.Pro684=) c.1981C= (p.Pro661=) | |
| 6 | g.33171562G>T | CA363636233 | COL11A2 | c.3163C>A (p.Pro1055Thr) c.2842C>A (p.Pro948Thr) c.2905C>A (p.Pro969Thr) n.272+5447C>A c.2317C>A (p.Pro773Thr) c.2449C>A (p.Pro817Thr) c.2269C>A (p.Pro757Thr) c.2206C>A (p.Pro736Thr) c.2050C>A (p.Pro684Thr) c.1981C>A (p.Pro661Thr) | |
| 6 | g.33171563G>A | CA449878058 | COL11A2 | c.3162C>T (p.Gly1054=) c.2841C>T (p.Gly947=) c.2904C>T (p.Gly968=) n.272+5446C>T c.2316C>T (p.Gly772=) c.2448C>T (p.Gly816=) c.2268C>T (p.Gly756=) c.2205C>T (p.Gly735=) c.2049C>T (p.Gly683=) c.1980C>T (p.Gly660=) | |
| 6 | g.33171563G>C | CA449878060 | COL11A2 | c.3162C>G (p.Gly1054=) c.2841C>G (p.Gly947=) c.2904C>G (p.Gly968=) n.272+5446C>G c.2316C>G (p.Gly772=) c.2448C>G (p.Gly816=) c.2268C>G (p.Gly756=) c.2205C>G (p.Gly735=) c.2049C>G (p.Gly683=) c.1980C>G (p.Gly660=) | |
| 6 | g.33171563G>T | CA449878061 | COL11A2 | c.3162C>A (p.Gly1054=) c.2841C>A (p.Gly947=) c.2904C>A (p.Gly968=) n.272+5446C>A c.2316C>A (p.Gly772=) c.2448C>A (p.Gly816=) c.2268C>A (p.Gly756=) c.2205C>A (p.Gly735=) c.2049C>A (p.Gly683=) c.1980C>A (p.Gly660=) | gnomAD v4 |
| 6 | g.33171564C>A | CA363636234 | COL11A2 | c.3161G>T (p.Gly1054Val) c.2840G>T (p.Gly947Val) c.2903G>T (p.Gly968Val) n.272+5445G>T c.2315G>T (p.Gly772Val) c.2447G>T (p.Gly816Val) c.2267G>T (p.Gly756Val) c.2204G>T (p.Gly735Val) c.2048G>T (p.Gly683Val) c.1979G>T (p.Gly660Val) | dbSNP |
| 6 | g.33171564C= | CA1619897110 | COL11A2 | c.3161G= (p.Gly1054=) c.2840G= (p.Gly947=) c.2903G= (p.Gly968=) n.272+5445G= c.2315G= (p.Gly772=) c.2447G= (p.Gly816=) c.2267G= (p.Gly756=) c.2204G= (p.Gly735=) c.2048G= (p.Gly683=) c.1979G= (p.Gly660=) | |
| 6 | g.33171564C>G | CA363636235 | COL11A2 | c.3161G>C (p.Gly1054Ala) c.2840G>C (p.Gly947Ala) c.2903G>C (p.Gly968Ala) n.272+5445G>C c.2315G>C (p.Gly772Ala) c.2447G>C (p.Gly816Ala) c.2267G>C (p.Gly756Ala) c.2204G>C (p.Gly735Ala) c.2048G>C (p.Gly683Ala) c.1979G>C (p.Gly660Ala) | |
| 6 | g.33171564C>T | CA363636237 | COL11A2 | c.3161G>A (p.Gly1054Asp) c.2840G>A (p.Gly947Asp) c.2903G>A (p.Gly968Asp) n.272+5445G>A c.2315G>A (p.Gly772Asp) c.2447G>A (p.Gly816Asp) c.2267G>A (p.Gly756Asp) c.2204G>A (p.Gly735Asp) c.2048G>A (p.Gly683Asp) c.1979G>A (p.Gly660Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171565C>A | CA363636241 | COL11A2 | c.3160G>T (p.Gly1054Cys) c.2839G>T (p.Gly947Cys) c.2902G>T (p.Gly968Cys) n.272+5444G>T c.2314G>T (p.Gly772Cys) c.2446G>T (p.Gly816Cys) c.2266G>T (p.Gly756Cys) c.2203G>T (p.Gly735Cys) c.2047G>T (p.Gly683Cys) c.1978G>T (p.Gly660Cys) |