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.235775004_235775006delinsCTT | CA2486638280 | LYST | c.216_218delinsAAG (p.Gln72=) c.*965_*967delinsAAG (n.*965_*967delinsAAG) c.137_139delinsAAG c.5541_5543delinsAAG (p.Gln1847=) n.6092_6094delinsAAG c.3204_3206delinsAAG (p.Gln1068=) n.5723_5725delinsAAG | |
| 1 | g.235775006_235775007del | CA347101 | LYST | c.216_217del (p.Arg73SerfsTer3) c.*965_*966del (n.*965_*966del) c.137_138del c.5541_5542del (p.Arg1848SerfsTer3) n.6092_6093del c.3204_3205del (p.Arg1069SerfsTer3) n.5723_5724del | ClinVar dbSNP |
| 1 | g.235775006T>A | CA344951450 | LYST | c.216A>T (p.Gln72His) c.*965A>T (n.*965A>T) c.137A>T c.5541A>T (p.Gln1847His) n.6092A>T c.3204A>T (p.Gln1068His) n.5723A>T | |
| 1 | g.235775006T>C | CA1466602 | LYST | c.216A>G (p.Gln72=) c.*965A>G (n.*965A>G) c.137A>G c.5541A>G (p.Gln1847=) n.6092A>G c.3204A>G (p.Gln1068=) n.5723A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235775006T>G | CA344951452 | LYST | c.216A>C (p.Gln72His) c.*965A>C (n.*965A>C) c.137A>C c.5541A>C (p.Gln1847His) n.6092A>C c.3204A>C (p.Gln1068His) n.5723A>C | |
| 1 | g.235775006T= | CA2486638282 | LYST | c.216A= (p.Gln72=) c.*965A= (n.*965A=) c.137A= c.5541A= (p.Gln1847=) n.6092A= c.3204A= (p.Gln1068=) n.5723A= | |
| 1 | g.235775007T>A | CA344951456 | LYST | c.215A>T (p.Gln72Leu) c.*964A>T (n.*964A>T) c.136A>T c.5540A>T (p.Gln1847Leu) n.6091A>T c.3203A>T (p.Gln1068Leu) n.5722A>T | |
| 1 | g.235775007T>C | CA344951460 | LYST | c.215A>G (p.Gln72Arg) c.*964A>G (n.*964A>G) c.136A>G c.5540A>G (p.Gln1847Arg) n.6091A>G c.3203A>G (p.Gln1068Arg) n.5722A>G | |
| 1 | g.235775007T>G | CA344951458 | LYST | c.215A>C (p.Gln72Pro) c.*964A>C (n.*964A>C) c.136A>C c.5540A>C (p.Gln1847Pro) n.6091A>C c.3203A>C (p.Gln1068Pro) n.5722A>C | |
| 1 | g.235775008G>A | CA344951462 | LYST | c.214C>T (p.Gln72Ter) c.*963C>T (n.*963C>T) c.135C>T c.5539C>T (p.Gln1847Ter) n.6090C>T c.3202C>T (p.Gln1068Ter) n.5721C>T | dbSNP |
| 1 | g.235775008G>C | CA344951464 | LYST | c.214C>G (p.Gln72Glu) c.*963C>G (n.*963C>G) c.135C>G c.5539C>G (p.Gln1847Glu) n.6090C>G c.3202C>G (p.Gln1068Glu) n.5721C>G | gnomAD v4 |
| 1 | g.235775008G= | CA2486638283 | LYST | c.214C= (p.Gln72=) c.*963C= (n.*963C=) c.135C= c.5539C= (p.Gln1847=) n.6090C= c.3202C= (p.Gln1068=) n.5721C= | |
| 1 | g.235775008G>T | CA344951466 | LYST | c.214C>A (p.Gln72Lys) c.*963C>A (n.*963C>A) c.135C>A c.5539C>A (p.Gln1847Lys) n.6090C>A c.3202C>A (p.Gln1068Lys) n.5721C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235775009T>A | CA1466603 | LYST | c.213A>T (p.Gln71His) c.*962A>T (n.*962A>T) c.134A>T c.5538A>T (p.Gln1846His) n.6089A>T c.3201A>T (p.Gln1067His) n.5720A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235775009T>C | CA423776704 | LYST | c.213A>G (p.Gln71=) c.*962A>G (n.*962A>G) c.134A>G c.5538A>G (p.Gln1846=) n.6089A>G c.3201A>G (p.Gln1067=) n.5720A>G | gnomAD v4 |
| 1 | g.235775009T>G | CA344951470 | LYST | c.213A>C (p.Gln71His) c.*962A>C (n.*962A>C) c.134A>C c.5538A>C (p.Gln1846His) n.6089A>C c.3201A>C (p.Gln1067His) n.5720A>C | |
| 1 | g.235775009T= | CA1147083546 | LYST | c.213A= (p.Gln71=) c.*962A= (n.*962A=) c.134A= c.5538A= (p.Gln1846=) n.6089A= c.3201A= (p.Gln1067=) n.5720A= | |
| 1 | g.235775010T>A | CA344951472 | LYST | c.212A>T (p.Gln71Leu) c.*961A>T (n.*961A>T) c.133A>T c.5537A>T (p.Gln1846Leu) n.6088A>T c.3200A>T (p.Gln1067Leu) n.5719A>T | |
| 1 | g.235775010T>C | CA344951474 | LYST | c.212A>G (p.Gln71Arg) c.*961A>G (n.*961A>G) c.133A>G c.5537A>G (p.Gln1846Arg) n.6088A>G c.3200A>G (p.Gln1067Arg) n.5719A>G | |
| 1 | g.235775010T>G | CA344951476 | LYST | c.212A>C (p.Gln71Pro) c.*961A>C (n.*961A>C) c.133A>C c.5537A>C (p.Gln1846Pro) n.6088A>C c.3200A>C (p.Gln1067Pro) n.5719A>C | |
| 1 | g.235775011G>A | CA344951478 | LYST | c.211C>T (p.Gln71Ter) c.*960C>T (n.*960C>T) c.132C>T c.5536C>T (p.Gln1846Ter) n.6087C>T c.3199C>T (p.Gln1067Ter) n.5718C>T | gnomAD v4 |
| 1 | g.235775011G>C | CA344951495 | LYST | c.211C>G (p.Gln71Glu) c.*960C>G (n.*960C>G) c.132C>G c.5536C>G (p.Gln1846Glu) n.6087C>G c.3199C>G (p.Gln1067Glu) n.5718C>G | |
| 1 | g.235775011G>T | CA344951498 | LYST | c.211C>A (p.Gln71Lys) c.*960C>A (n.*960C>A) c.132C>A c.5536C>A (p.Gln1846Lys) n.6087C>A c.3199C>A (p.Gln1067Lys) n.5718C>A | |
| 1 | g.235775012G>A | CA423776705 | LYST | c.210C>T (p.Asn70=) c.*959C>T (n.*959C>T) c.131C>T c.5535C>T (p.Asn1845=) n.6086C>T c.3198C>T (p.Asn1066=) n.5717C>T | |
| 1 | g.235775012G>C | CA344951500 | LYST | c.210C>G (p.Asn70Lys) c.*959C>G (n.*959C>G) c.131C>G c.5535C>G (p.Asn1845Lys) n.6086C>G c.3198C>G (p.Asn1066Lys) n.5717C>G | gnomAD v4 |
| 1 | g.235775012G>T | CA344951503 | LYST | c.210C>A (p.Asn70Lys) c.*959C>A (n.*959C>A) c.131C>A c.5535C>A (p.Asn1845Lys) n.6086C>A c.3198C>A (p.Asn1066Lys) n.5717C>A | gnomAD v4 |
| 1 | g.235775013T>A | CA344951504 | LYST | c.209A>T (p.Asn70Ile) c.*958A>T (n.*958A>T) c.130A>T c.5534A>T (p.Asn1845Ile) n.6085A>T c.3197A>T (p.Asn1066Ile) n.5716A>T | |
| 1 | g.235775013T>C | CA344951506 | LYST | c.209A>G (p.Asn70Ser) c.*958A>G (n.*958A>G) c.130A>G c.5534A>G (p.Asn1845Ser) n.6085A>G c.3197A>G (p.Asn1066Ser) n.5716A>G | dbSNP gnomAD v4 |
| 1 | g.235775013T>G | CA344951505 | LYST | c.209A>C (p.Asn70Thr) c.*958A>C (n.*958A>C) c.130A>C c.5534A>C (p.Asn1845Thr) n.6085A>C c.3197A>C (p.Asn1066Thr) n.5716A>C | |
| 1 | g.235775013T= | CA2486638284 | LYST | c.209A= (p.Asn70=) c.*958A= (n.*958A=) c.130A= c.5534A= (p.Asn1845=) n.6085A= c.3197A= (p.Asn1066=) n.5716A= | |
| 1 | g.235775014T>A | CA344951508 | LYST | c.208A>T (p.Asn70Tyr) c.*957A>T (n.*957A>T) c.129A>T c.5533A>T (p.Asn1845Tyr) n.6084A>T c.3196A>T (p.Asn1066Tyr) n.5715A>T | |
| 1 | g.235775014T>C | CA1466604 | LYST | c.208A>G (p.Asn70Asp) c.*957A>G (n.*957A>G) c.129A>G c.5533A>G (p.Asn1845Asp) n.6084A>G c.3196A>G (p.Asn1066Asp) n.5715A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235775014T>G | CA344951510 | LYST | c.208A>C (p.Asn70His) c.*957A>C (n.*957A>C) c.129A>C c.5533A>C (p.Asn1845His) n.6084A>C c.3196A>C (p.Asn1066His) n.5715A>C | |
| 1 | g.235775014T= | CA2486638285 | LYST | c.208A= (p.Asn70=) c.*957A= (n.*957A=) c.129A= c.5533A= (p.Asn1845=) n.6084A= c.3196A= (p.Asn1066=) n.5715A= | |
| 1 | g.235775015G>A | CA423776706 | LYST | c.207C>T (p.Tyr69=) c.*956C>T (n.*956C>T) c.128C>T c.5532C>T (p.Tyr1844=) n.6083C>T c.3195C>T (p.Tyr1065=) n.5714C>T | |
| 1 | g.235775015G>C | CA344951515 | LYST | c.207C>G (p.Tyr69Ter) c.*956C>G (n.*956C>G) c.128C>G c.5532C>G (p.Tyr1844Ter) n.6083C>G c.3195C>G (p.Tyr1065Ter) n.5714C>G | |
| 1 | g.235775015G>T | CA344951537 | LYST | c.207C>A (p.Tyr69Ter) c.*956C>A (n.*956C>A) c.128C>A c.5532C>A (p.Tyr1844Ter) n.6083C>A c.3195C>A (p.Tyr1065Ter) n.5714C>A | |
| 1 | g.235775016T>A | CA344951541 | LYST | c.206A>T (p.Tyr69Phe) c.*955A>T (n.*955A>T) c.127A>T c.5531A>T (p.Tyr1844Phe) n.6082A>T c.3194A>T (p.Tyr1065Phe) n.5713A>T | |
| 1 | g.235775016T>C | CA344951544 | LYST | c.206A>G (p.Tyr69Cys) c.*955A>G (n.*955A>G) c.127A>G c.5531A>G (p.Tyr1844Cys) n.6082A>G c.3194A>G (p.Tyr1065Cys) n.5713A>G | ClinVar |
| 1 | g.235775016T>G | CA344951552 | LYST | c.206A>C (p.Tyr69Ser) c.*955A>C (n.*955A>C) c.127A>C c.5531A>C (p.Tyr1844Ser) n.6082A>C c.3194A>C (p.Tyr1065Ser) n.5713A>C | |
| 1 | g.235775017A>C | CA344951555 | LYST | c.205T>G (p.Tyr69Asp) c.*954T>G (n.*954T>G) c.126T>G c.5530T>G (p.Tyr1844Asp) n.6081T>G c.3193T>G (p.Tyr1065Asp) n.5712T>G | |
| 1 | g.235775017A>G | CA344951561 | LYST | c.205T>C (p.Tyr69His) c.*954T>C (n.*954T>C) c.126T>C c.5530T>C (p.Tyr1844His) n.6081T>C c.3193T>C (p.Tyr1065His) n.5712T>C | |
| 1 | g.235775017A>T | CA344951563 | LYST | c.205T>A (p.Tyr69Asn) c.*954T>A (n.*954T>A) c.126T>A c.5530T>A (p.Tyr1844Asn) n.6081T>A c.3193T>A (p.Tyr1065Asn) n.5712T>A | |
| 1 | g.235775018T>A | CA344951567 | LYST | c.204A>T (p.Lys68Asn) c.*953A>T (n.*953A>T) c.125A>T c.5529A>T (p.Lys1843Asn) n.6080A>T c.3192A>T (p.Lys1064Asn) n.5711A>T | |
| 1 | g.235775018T>C | CA423776707 | LYST | c.204A>G (p.Lys68=) c.*953A>G (n.*953A>G) c.125A>G c.5529A>G (p.Lys1843=) n.6080A>G c.3192A>G (p.Lys1064=) n.5711A>G | |
| 1 | g.235775018T>G | CA344951569 | LYST | c.204A>C (p.Lys68Asn) c.*953A>C (n.*953A>C) c.125A>C c.5529A>C (p.Lys1843Asn) n.6080A>C c.3192A>C (p.Lys1064Asn) n.5711A>C | |
| 1 | g.235775019T>A | CA344951577 | LYST | c.203A>T (p.Lys68Ile) c.*952A>T (n.*952A>T) c.124A>T c.5528A>T (p.Lys1843Ile) n.6079A>T c.3191A>T (p.Lys1064Ile) n.5710A>T | |
| 1 | g.235775019T>C | CA344951573 | LYST | c.203A>G (p.Lys68Arg) c.*952A>G (n.*952A>G) c.124A>G c.5528A>G (p.Lys1843Arg) n.6079A>G c.3191A>G (p.Lys1064Arg) n.5710A>G | |
| 1 | g.235775019T>G | CA344951572 | LYST | c.203A>C (p.Lys68Thr) c.*952A>C (n.*952A>C) c.124A>C c.5528A>C (p.Lys1843Thr) n.6079A>C c.3191A>C (p.Lys1064Thr) n.5710A>C | |
| 1 | g.235775020T>A | CA344951589 | LYST | c.202A>T (p.Lys68Ter) c.*951A>T (n.*951A>T) c.123A>T c.5527A>T (p.Lys1843Ter) n.6078A>T c.3190A>T (p.Lys1064Ter) n.5709A>T |