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 |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173910345_173913622del | CA2573051421 | SERPINC1 | c.408+948_763-386del n.113+948_414-386del c.408+948_559+1536del c.264+948_619-386del c.408+948_885+303del c.489+948_844-386del c.408+948_742-386del c.408+948_762+426del c.408+948_547-386del | ClinVar |
| 1 | g.173911379_173915115del | CA2573051422 | SERPINC1 | c.42-196_624+420del c.42-196_559+485del c.-201_480+420del c.123-196_705+420del c.42-196_409-488del | |
| 1 | g.173911749_173917428del | CA1139655524 | ClinVar | ||
| 1 | g.173911835C>A | CA343776244 | SERPINC1 | c.588G>T (p.Leu196Phe) n.293G>T c.559+29G>T (n.559+29G>T) c.444G>T (p.Leu148Phe) c.669G>T (p.Leu223Phe) c.409-944G>T (n.409-944G>T) | dbSNP |
| 1 | g.173911835C= | CA1207937801 | SERPINC1 | c.588G= (p.Leu196=) n.293G= c.559+29G= (n.559+29G=) c.444G= (p.Leu148=) c.669G= (p.Leu223=) c.409-944G= (n.409-944G=) | |
| 1 | g.173911835C>G | CA343776246 | SERPINC1 | c.588G>C (p.Leu196Phe) n.293G>C c.559+29G>C (n.559+29G>C) c.444G>C (p.Leu148Phe) c.669G>C (p.Leu223Phe) c.409-944G>C (n.409-944G>C) | |
| 1 | g.173911835C>T | CA421822964 | SERPINC1 | c.588G>A (p.Leu196=) n.293G>A c.559+29G>A (n.559+29G>A) c.444G>A (p.Leu148=) c.669G>A (p.Leu223=) c.409-944G>A (n.409-944G>A) | COSMIC |
| 1 | g.173911836A>C | CA343776248 | SERPINC1 | c.587T>G (p.Leu196Trp) n.292T>G c.559+28T>G (n.559+28T>G) c.443T>G (p.Leu148Trp) c.668T>G (p.Leu223Trp) c.409-945T>G (n.409-945T>G) | |
| 1 | g.173911836A>G | CA343776249 | SERPINC1 | c.587T>C (p.Leu196Ser) n.292T>C c.559+28T>C (n.559+28T>C) c.443T>C (p.Leu148Ser) c.668T>C (p.Leu223Ser) c.409-945T>C (n.409-945T>C) | |
| 1 | g.173911836A>T | CA343776250 | SERPINC1 | c.587T>A (p.Leu196Ter) n.292T>A c.559+28T>A (n.559+28T>A) c.443T>A (p.Leu148Ter) c.668T>A (p.Leu223Ter) c.409-945T>A (n.409-945T>A) | |
| 1 | g.173911837A= | CA1207937802 | SERPINC1 | c.586T= (p.Leu196=) n.291T= c.559+27T= (n.559+27T=) c.442T= (p.Leu148=) c.667T= (p.Leu223=) c.409-946T= (n.409-946T=) | |
| 1 | g.173911837A>C | CA343776252 | SERPINC1 | c.586T>G (p.Leu196Val) n.291T>G c.559+27T>G (n.559+27T>G) c.442T>G (p.Leu148Val) c.667T>G (p.Leu223Val) c.409-946T>G (n.409-946T>G) | dbSNP |
| 1 | g.173911837A>G | CA1251399 | SERPINC1 | c.586T>C (p.Leu196=) n.291T>C c.559+27T>C (n.559+27T>C) c.442T>C (p.Leu148=) c.667T>C (p.Leu223=) c.409-946T>C (n.409-946T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911837A>T | CA343776254 | SERPINC1 | c.586T>A (p.Leu196Met) n.291T>A c.559+27T>A (n.559+27T>A) c.442T>A (p.Leu148Met) c.667T>A (p.Leu223Met) c.409-946T>A (n.409-946T>A) | |
| 1 | g.173911838C>A | CA343776255 | SERPINC1 | c.585G>T (p.Glu195Asp) n.290G>T c.559+26G>T (n.559+26G>T) c.441G>T (p.Glu147Asp) c.666G>T (p.Glu222Asp) c.409-947G>T (n.409-947G>T) | |
| 1 | g.173911838C= | CA1207937803 | SERPINC1 | c.585G= (p.Glu195=) n.290G= c.559+26G= (n.559+26G=) c.441G= (p.Glu147=) c.666G= (p.Glu222=) c.409-947G= (n.409-947G=) | |
| 1 | g.173911838C>G | CA343776257 | SERPINC1 | c.585G>C (p.Glu195Asp) n.290G>C c.559+26G>C (n.559+26G>C) c.441G>C (p.Glu147Asp) c.666G>C (p.Glu222Asp) c.409-947G>C (n.409-947G>C) | |
| 1 | g.173911838C>T | CA421822965 | SERPINC1 | c.585G>A (p.Glu195=) n.290G>A c.559+26G>A (n.559+26G>A) c.441G>A (p.Glu147=) c.666G>A (p.Glu222=) c.409-947G>A (n.409-947G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911839T>A | CA343776262 | SERPINC1 | c.584A>T (p.Glu195Val) n.289A>T c.559+25A>T (n.559+25A>T) c.440A>T (p.Glu147Val) c.665A>T (p.Glu222Val) c.409-948A>T (n.409-948A>T) | |
| 1 | g.173911839T>C | CA343776259 | SERPINC1 | c.584A>G (p.Glu195Gly) n.289A>G c.559+25A>G (n.559+25A>G) c.440A>G (p.Glu147Gly) c.665A>G (p.Glu222Gly) c.409-948A>G (n.409-948A>G) | |
| 1 | g.173911839T>G | CA343776261 | SERPINC1 | c.584A>C (p.Glu195Ala) n.289A>C c.559+25A>C (n.559+25A>C) c.440A>C (p.Glu147Ala) c.665A>C (p.Glu222Ala) c.409-948A>C (n.409-948A>C) | |
| 1 | g.173911840C>A | CA343776263 | SERPINC1 | c.583G>T (p.Glu195Ter) n.288G>T c.559+24G>T (n.559+24G>T) c.439G>T (p.Glu147Ter) c.664G>T (p.Glu222Ter) c.409-949G>T (n.409-949G>T) | |
| 1 | g.173911840C>G | CA343776265 | SERPINC1 | c.583G>C (p.Glu195Gln) n.288G>C c.559+24G>C (n.559+24G>C) c.439G>C (p.Glu147Gln) c.664G>C (p.Glu222Gln) c.409-949G>C (n.409-949G>C) | |
| 1 | g.173911840C>T | CA343776268 | SERPINC1 | c.583G>A (p.Glu195Lys) n.288G>A c.559+24G>A (n.559+24G>A) c.439G>A (p.Glu147Lys) c.664G>A (p.Glu222Lys) c.409-949G>A (n.409-949G>A) | |
| 1 | g.173911841A>C | CA343776270 | SERPINC1 | c.582T>G (p.Ser194Arg) n.287T>G c.559+23T>G (n.559+23T>G) c.438T>G (p.Ser146Arg) c.663T>G (p.Ser221Arg) c.409-950T>G (n.409-950T>G) | gnomAD v4 |
| 1 | g.173911841A>G | CA421822966 | SERPINC1 | c.582T>C (p.Ser194=) n.287T>C c.559+23T>C (n.559+23T>C) c.438T>C (p.Ser146=) c.663T>C (p.Ser221=) c.409-950T>C (n.409-950T>C) | |
| 1 | g.173911841A>T | CA343776271 | SERPINC1 | c.582T>A (p.Ser194Arg) n.287T>A c.559+23T>A (n.559+23T>A) c.438T>A (p.Ser146Arg) c.663T>A (p.Ser221Arg) c.409-950T>A (n.409-950T>A) | |
| 1 | g.173911842C>A | CA343776272 | SERPINC1 | c.581G>T (p.Ser194Ile) n.286G>T c.559+22G>T (n.559+22G>T) c.437G>T (p.Ser146Ile) c.662G>T (p.Ser221Ile) c.409-951G>T (n.409-951G>T) | |
| 1 | g.173911842C>G | CA343776275 | SERPINC1 | c.581G>C (p.Ser194Thr) n.286G>C c.559+22G>C (n.559+22G>C) c.437G>C (p.Ser146Thr) c.662G>C (p.Ser221Thr) c.409-951G>C (n.409-951G>C) | |
| 1 | g.173911842C>T | CA343776276 | SERPINC1 | c.581G>A (p.Ser194Asn) n.286G>A c.559+22G>A (n.559+22G>A) c.437G>A (p.Ser146Asn) c.662G>A (p.Ser221Asn) c.409-951G>A (n.409-951G>A) | gnomAD v4 |
| 1 | g.173911843T>A | CA343776278 | SERPINC1 | c.580A>T (p.Ser194Cys) n.285A>T c.559+21A>T (n.559+21A>T) c.436A>T (p.Ser146Cys) c.661A>T (p.Ser221Cys) c.409-952A>T (n.409-952A>T) | |
| 1 | g.173911843T>C | CA343776280 | SERPINC1 | c.580A>G (p.Ser194Gly) n.285A>G c.559+21A>G (n.559+21A>G) c.436A>G (p.Ser146Gly) c.661A>G (p.Ser221Gly) c.409-952A>G (n.409-952A>G) | gnomAD v4 |
| 1 | g.173911843T>G | CA343776281 | SERPINC1 | c.580A>C (p.Ser194Arg) n.285A>C c.559+21A>C (n.559+21A>C) c.436A>C (p.Ser146Arg) c.661A>C (p.Ser221Arg) c.409-952A>C (n.409-952A>C) | ClinVar |
| 1 | g.173911844G>A | CA421822967 | SERPINC1 | c.579C>T (p.Ile193=) n.284C>T c.559+20C>T (n.559+20C>T) c.435C>T (p.Ile145=) c.660C>T (p.Ile220=) c.409-953C>T (n.409-953C>T) | dbSNP |
| 1 | g.173911844G>C | CA343776283 | SERPINC1 | c.579C>G (p.Ile193Met) n.284C>G c.559+20C>G (n.559+20C>G) c.435C>G (p.Ile145Met) c.660C>G (p.Ile220Met) c.409-953C>G (n.409-953C>G) | |
| 1 | g.173911844G= | CA1207937804 | SERPINC1 | c.579C= (p.Ile193=) n.284C= c.559+20C= (n.559+20C=) c.435C= (p.Ile145=) c.660C= (p.Ile220=) c.409-953C= (n.409-953C=) | |
| 1 | g.173911844G>T | CA421822968 | SERPINC1 | c.579C>A (p.Ile193=) n.284C>A c.559+20C>A (n.559+20C>A) c.435C>A (p.Ile145=) c.660C>A (p.Ile220=) c.409-953C>A (n.409-953C>A) | |
| 1 | g.173911845A>C | CA343776285 | SERPINC1 | c.578T>G (p.Ile193Ser) n.283T>G c.559+19T>G (n.559+19T>G) c.434T>G (p.Ile145Ser) c.659T>G (p.Ile220Ser) c.409-954T>G (n.409-954T>G) | |
| 1 | g.173911845A>G | CA343776289 | SERPINC1 | c.578T>C (p.Ile193Thr) n.283T>C c.559+19T>C (n.559+19T>C) c.434T>C (p.Ile145Thr) c.659T>C (p.Ile220Thr) c.409-954T>C (n.409-954T>C) | |
| 1 | g.173911845A>T | CA343776287 | SERPINC1 | c.578T>A (p.Ile193Asn) n.283T>A c.559+19T>A (n.559+19T>A) c.434T>A (p.Ile145Asn) c.659T>A (p.Ile220Asn) c.409-954T>A (n.409-954T>A) | |
| 1 | g.173911846T>A | CA343776290 | SERPINC1 | c.577A>T (p.Ile193Phe) n.282A>T c.559+18A>T (n.559+18A>T) c.433A>T (p.Ile145Phe) c.658A>T (p.Ile220Phe) c.409-955A>T (n.409-955A>T) | |
| 1 | g.173911846T>C | CA343776294 | SERPINC1 | c.577A>G (p.Ile193Val) n.282A>G c.559+18A>G (n.559+18A>G) c.433A>G (p.Ile145Val) c.658A>G (p.Ile220Val) c.409-955A>G (n.409-955A>G) | dbSNP |
| 1 | g.173911846T>G | CA343776291 | SERPINC1 | c.577A>C (p.Ile193Leu) n.282A>C c.559+18A>C (n.559+18A>C) c.433A>C (p.Ile145Leu) c.658A>C (p.Ile220Leu) c.409-955A>C (n.409-955A>C) | |
| 1 | g.173911846T= | CA1207937805 | SERPINC1 | c.577A= (p.Ile193=) n.282A= c.559+18A= (n.559+18A=) c.433A= (p.Ile145=) c.658A= (p.Ile220=) c.409-955A= (n.409-955A=) | |
| 1 | g.173911847G>A | CA421822969 | SERPINC1 | c.576C>T (p.Asp192=) n.281C>T c.559+17C>T (n.559+17C>T) c.432C>T (p.Asp144=) c.657C>T (p.Asp219=) c.409-956C>T (n.409-956C>T) | dbSNP |
| 1 | g.173911847G>C | CA343776297 | SERPINC1 | c.576C>G (p.Asp192Glu) n.281C>G c.559+17C>G (n.559+17C>G) c.432C>G (p.Asp144Glu) c.657C>G (p.Asp219Glu) c.409-956C>G (n.409-956C>G) | |
| 1 | g.173911847G= | CA1207937806 | SERPINC1 | c.576C= (p.Asp192=) n.281C= c.559+17C= (n.559+17C=) c.432C= (p.Asp144=) c.657C= (p.Asp219=) c.409-956C= (n.409-956C=) | |
| 1 | g.173911847G>T | CA343776298 | SERPINC1 | c.576C>A (p.Asp192Glu) n.281C>A c.559+17C>A (n.559+17C>A) c.432C>A (p.Asp144Glu) c.657C>A (p.Asp219Glu) c.409-956C>A (n.409-956C>A) | |
| 1 | g.173911848T>A | CA343776300 | SERPINC1 | c.575A>T (p.Asp192Val) n.280A>T c.559+16A>T (n.559+16A>T) c.431A>T (p.Asp144Val) c.656A>T (p.Asp219Val) c.409-957A>T (n.409-957A>T) |