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 |
|---|---|---|---|---|---|
| 21 | g.41480570C>A | CA410319968 | TMPRSS2 | c.478G>T (p.Val160Leu) c.358G>T (p.Val120Leu) n.717G>T c.154G>T (p.Val52Leu) c.*210G>T (n.*210G>T) c.271G>T (p.Val91Leu) c.637G>T (p.Val213Leu) c.589G>T (p.Val197Leu) | gnomAD v4 |
| 21 | g.41480570C= | CA2390342273 | TMPRSS2 | c.478G= (p.Val160=) c.358G= (p.Val120=) n.717G= c.154G= (p.Val52=) c.*210G= (n.*210G=) c.271G= (p.Val91=) c.637G= (p.Val213=) c.589G= (p.Val197=) | |
| 21 | g.41480570C>G | CA410319970 | TMPRSS2 | c.478G>C (p.Val160Leu) c.358G>C (p.Val120Leu) n.717G>C c.154G>C (p.Val52Leu) c.*210G>C (n.*210G>C) c.271G>C (p.Val91Leu) c.637G>C (p.Val213Leu) c.589G>C (p.Val197Leu) | |
| 21 | g.41480570C>T | CA10034696 | TMPRSS2 | c.478G>A (p.Val160Met) c.358G>A (p.Val120Met) n.717G>A c.154G>A (p.Val52Met) c.*210G>A (n.*210G>A) c.271G>A (p.Val91Met) c.637G>A (p.Val213Met) c.589G>A (p.Val197Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.41480571del | CA2737805625 | TMPRSS2 | c.478del (p.Val160CysfsTer?) c.358del (p.Val120CysfsTer?) n.717del c.154del (p.Val52CysfsTer?) c.*210del (n.*210del) c.271del (p.Val91CysfsTer?) c.637del (p.Val213CysfsTer?) c.589del (p.Val197CysfsTer?) | dbSNP |
| 21 | g.41480571C>A | CA410319973 | TMPRSS2 | c.477G>T (p.Gln159His) c.357G>T (p.Gln119His) n.716G>T c.153G>T (p.Gln51His) c.*209G>T (n.*209G>T) c.270G>T (p.Gln90His) c.636G>T (p.Gln212His) c.588G>T (p.Gln196His) | dbSNP gnomAD v4 |
| 21 | g.41480571C= | CA2390342274 | TMPRSS2 | c.477G= (p.Gln159=) c.357G= (p.Gln119=) n.716G= c.153G= (p.Gln51=) c.*209G= (n.*209G=) c.270G= (p.Gln90=) c.636G= (p.Gln212=) c.588G= (p.Gln196=) | |
| 21 | g.41480571C>G | CA410319975 | TMPRSS2 | c.477G>C (p.Gln159His) c.357G>C (p.Gln119His) n.716G>C c.153G>C (p.Gln51His) c.*209G>C (n.*209G>C) c.270G>C (p.Gln90His) c.636G>C (p.Gln212His) c.588G>C (p.Gln196His) | dbSNP |
| 21 | g.41480571C>T | CA512391972 | TMPRSS2 | c.477G>A (p.Gln159=) c.357G>A (p.Gln119=) n.716G>A c.153G>A (p.Gln51=) c.*209G>A (n.*209G>A) c.270G>A (p.Gln90=) c.636G>A (p.Gln212=) c.588G>A (p.Gln196=) | dbSNP |
| 21 | g.41480572T>A | CA410319981 | TMPRSS2 | c.476A>T (p.Gln159Leu) c.356A>T (p.Gln119Leu) n.715A>T c.152A>T (p.Gln51Leu) c.*208A>T (n.*208A>T) c.269A>T (p.Gln90Leu) c.635A>T (p.Gln212Leu) c.587A>T (p.Gln196Leu) | |
| 21 | g.41480572T>C | CA410319978 | TMPRSS2 | c.476A>G (p.Gln159Arg) c.356A>G (p.Gln119Arg) n.715A>G c.152A>G (p.Gln51Arg) c.*208A>G (n.*208A>G) c.269A>G (p.Gln90Arg) c.635A>G (p.Gln212Arg) c.587A>G (p.Gln196Arg) | gnomAD v4 |
| 21 | g.41480572T>G | CA410319977 | TMPRSS2 | c.476A>C (p.Gln159Pro) c.356A>C (p.Gln119Pro) n.715A>C c.152A>C (p.Gln51Pro) c.*208A>C (n.*208A>C) c.269A>C (p.Gln90Pro) c.635A>C (p.Gln212Pro) c.587A>C (p.Gln196Pro) | |
| 21 | g.41480573G>A | CA410319984 | TMPRSS2 | c.475C>T (p.Gln159Ter) c.355C>T (p.Gln119Ter) n.714C>T c.151C>T (p.Gln51Ter) c.*207C>T (n.*207C>T) c.268C>T (p.Gln90Ter) c.634C>T (p.Gln212Ter) c.586C>T (p.Gln196Ter) | dbSNP |
| 21 | g.41480573G>C | CA410319986 | TMPRSS2 | c.475C>G (p.Gln159Glu) c.355C>G (p.Gln119Glu) n.714C>G c.151C>G (p.Gln51Glu) c.*207C>G (n.*207C>G) c.268C>G (p.Gln90Glu) c.634C>G (p.Gln212Glu) c.586C>G (p.Gln196Glu) | dbSNP |
| 21 | g.41480573G>T | CA410319988 | TMPRSS2 | c.475C>A (p.Gln159Lys) c.355C>A (p.Gln119Lys) n.714C>A c.151C>A (p.Gln51Lys) c.*207C>A (n.*207C>A) c.268C>A (p.Gln90Lys) c.634C>A (p.Gln212Lys) c.586C>A (p.Gln196Lys) | dbSNP |
| 21 | g.41480574A>C | CA512391973 | TMPRSS2 | c.474T>G (p.Leu158=) c.354T>G (p.Leu118=) n.713T>G c.150T>G (p.Leu50=) c.*206T>G (n.*206T>G) c.267T>G (p.Leu89=) c.633T>G (p.Leu211=) c.585T>G (p.Leu195=) | |
| 21 | g.41480574A>G | CA512391974 | TMPRSS2 | c.474T>C (p.Leu158=) c.354T>C (p.Leu118=) n.713T>C c.150T>C (p.Leu50=) c.*206T>C (n.*206T>C) c.267T>C (p.Leu89=) c.633T>C (p.Leu211=) c.585T>C (p.Leu195=) | |
| 21 | g.41480574A>T | CA512391975 | TMPRSS2 | c.474T>A (p.Leu158=) c.354T>A (p.Leu118=) n.713T>A c.150T>A (p.Leu50=) c.*206T>A (n.*206T>A) c.267T>A (p.Leu89=) c.633T>A (p.Leu211=) c.585T>A (p.Leu195=) | |
| 21 | g.41480575A>C | CA410319990 | TMPRSS2 | c.473T>G (p.Leu158Arg) c.353T>G (p.Leu118Arg) n.712T>G c.149T>G (p.Leu50Arg) c.*205T>G (n.*205T>G) c.266T>G (p.Leu89Arg) c.632T>G (p.Leu211Arg) c.584T>G (p.Leu195Arg) | gnomAD v4 |
| 21 | g.41480575A>G | CA410319991 | TMPRSS2 | c.473T>C (p.Leu158Pro) c.353T>C (p.Leu118Pro) n.712T>C c.149T>C (p.Leu50Pro) c.*205T>C (n.*205T>C) c.266T>C (p.Leu89Pro) c.632T>C (p.Leu211Pro) c.584T>C (p.Leu195Pro) | |
| 21 | g.41480575A>T | CA410319993 | TMPRSS2 | c.473T>A (p.Leu158His) c.353T>A (p.Leu118His) n.712T>A c.149T>A (p.Leu50His) c.*205T>A (n.*205T>A) c.266T>A (p.Leu89His) c.632T>A (p.Leu211His) c.584T>A (p.Leu195His) | dbSNP |
| 21 | g.41480576G>A | CA410319995 | TMPRSS2 | c.472C>T (p.Leu158Phe) c.352C>T (p.Leu118Phe) n.711C>T c.148C>T (p.Leu50Phe) c.*204C>T (n.*204C>T) c.265C>T (p.Leu89Phe) c.631C>T (p.Leu211Phe) c.583C>T (p.Leu195Phe) | dbSNP |
| 21 | g.41480576G>C | CA410319997 | TMPRSS2 | c.472C>G (p.Leu158Val) c.352C>G (p.Leu118Val) n.711C>G c.148C>G (p.Leu50Val) c.*204C>G (n.*204C>G) c.265C>G (p.Leu89Val) c.631C>G (p.Leu211Val) c.583C>G (p.Leu195Val) | dbSNP |
| 21 | g.41480576G>T | CA410319999 | TMPRSS2 | c.472C>A (p.Leu158Ile) c.352C>A (p.Leu118Ile) n.711C>A c.148C>A (p.Leu50Ile) c.*204C>A (n.*204C>A) c.265C>A (p.Leu89Ile) c.631C>A (p.Leu211Ile) c.583C>A (p.Leu195Ile) | |
| 21 | g.41480577G>A | CA512391976 | TMPRSS2 | c.471C>T (p.Ile157=) c.351C>T (p.Ile117=) n.710C>T c.147C>T (p.Ile49=) c.*203C>T (n.*203C>T) c.264C>T (p.Ile88=) c.630C>T (p.Ile210=) c.582C>T (p.Ile194=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.41480577G>C | CA10034697 | TMPRSS2 | c.471C>G (p.Ile157Met) c.351C>G (p.Ile117Met) n.710C>G c.147C>G (p.Ile49Met) c.*203C>G (n.*203C>G) c.264C>G (p.Ile88Met) c.630C>G (p.Ile210Met) c.582C>G (p.Ile194Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.41480577G= | CA2390342275 | TMPRSS2 | c.471C= (p.Ile157=) c.351C= (p.Ile117=) n.710C= c.147C= (p.Ile49=) c.*203C= (n.*203C=) c.264C= (p.Ile88=) c.630C= (p.Ile210=) c.582C= (p.Ile194=) | |
| 21 | g.41480577G>T | CA512391977 | TMPRSS2 | c.471C>A (p.Ile157=) c.351C>A (p.Ile117=) n.710C>A c.147C>A (p.Ile49=) c.*203C>A (n.*203C>A) c.264C>A (p.Ile88=) c.630C>A (p.Ile210=) c.582C>A (p.Ile194=) | |
| 21 | g.41480578A= | CA2390342276 | TMPRSS2 | c.470T= (p.Ile157=) c.350T= (p.Ile117=) n.709T= c.146T= (p.Ile49=) c.*202T= (n.*202T=) c.263T= (p.Ile88=) c.629T= (p.Ile210=) c.581T= (p.Ile194=) | |
| 21 | g.41480578A>C | CA410320002 | TMPRSS2 | c.470T>G (p.Ile157Ser) c.350T>G (p.Ile117Ser) n.709T>G c.146T>G (p.Ile49Ser) c.*202T>G (n.*202T>G) c.263T>G (p.Ile88Ser) c.629T>G (p.Ile210Ser) c.581T>G (p.Ile194Ser) | |
| 21 | g.41480578A>G | CA320731216 | TMPRSS2 | c.470T>C (p.Ile157Thr) c.350T>C (p.Ile117Thr) n.709T>C c.146T>C (p.Ile49Thr) c.*202T>C (n.*202T>C) c.263T>C (p.Ile88Thr) c.629T>C (p.Ile210Thr) c.581T>C (p.Ile194Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.41480578A>T | CA410320005 | TMPRSS2 | c.470T>A (p.Ile157Asn) c.350T>A (p.Ile117Asn) n.709T>A c.146T>A (p.Ile49Asn) c.*202T>A (n.*202T>A) c.263T>A (p.Ile88Asn) c.629T>A (p.Ile210Asn) c.581T>A (p.Ile194Asn) | |
| 21 | g.41480579T>A | CA410320010 | TMPRSS2 | c.469A>T (p.Ile157Phe) c.349A>T (p.Ile117Phe) n.708A>T c.145A>T (p.Ile49Phe) c.*201A>T (n.*201A>T) c.262A>T (p.Ile88Phe) c.628A>T (p.Ile210Phe) c.580A>T (p.Ile194Phe) | dbSNP |
| 21 | g.41480579T>C | CA410320008 | TMPRSS2 | c.469A>G (p.Ile157Val) c.349A>G (p.Ile117Val) n.708A>G c.145A>G (p.Ile49Val) c.*201A>G (n.*201A>G) c.262A>G (p.Ile88Val) c.628A>G (p.Ile210Val) c.580A>G (p.Ile194Val) | |
| 21 | g.41480579T>G | CA410320007 | TMPRSS2 | c.469A>C (p.Ile157Leu) c.349A>C (p.Ile117Leu) n.708A>C c.145A>C (p.Ile49Leu) c.*201A>C (n.*201A>C) c.262A>C (p.Ile88Leu) c.628A>C (p.Ile210Leu) c.580A>C (p.Ile194Leu) | |
| 21 | g.41480579T= | CA2390342277 | TMPRSS2 | c.469A= (p.Ile157=) c.349A= (p.Ile117=) n.708A= c.145A= (p.Ile49=) c.*201A= (n.*201A=) c.262A= (p.Ile88=) c.628A= (p.Ile210=) c.580A= (p.Ile194=) | |
| 21 | g.41480580G>A | CA512391978 | TMPRSS2 | c.468C>T (p.Phe156=) c.348C>T (p.Phe116=) n.707C>T c.144C>T (p.Phe48=) c.*200C>T (n.*200C>T) c.261C>T (p.Phe87=) c.627C>T (p.Phe209=) c.579C>T (p.Phe193=) | dbSNP gnomAD v4 |
| 21 | g.41480580G>C | CA410320012 | TMPRSS2 | c.468C>G (p.Phe156Leu) c.348C>G (p.Phe116Leu) n.707C>G c.144C>G (p.Phe48Leu) c.*200C>G (n.*200C>G) c.261C>G (p.Phe87Leu) c.627C>G (p.Phe209Leu) c.579C>G (p.Phe193Leu) | dbSNP |
| 21 | g.41480580G>T | CA410320014 | TMPRSS2 | c.468C>A (p.Phe156Leu) c.348C>A (p.Phe116Leu) n.707C>A c.144C>A (p.Phe48Leu) c.*200C>A (n.*200C>A) c.261C>A (p.Phe87Leu) c.627C>A (p.Phe209Leu) c.579C>A (p.Phe193Leu) | |
| 21 | g.41480581A>C | CA410320019 | TMPRSS2 | c.467T>G (p.Phe156Cys) c.347T>G (p.Phe116Cys) n.706T>G c.143T>G (p.Phe48Cys) c.*199T>G (n.*199T>G) c.260T>G (p.Phe87Cys) c.626T>G (p.Phe209Cys) c.578T>G (p.Phe193Cys) | |
| 21 | g.41480581A>G | CA410320024 | TMPRSS2 | c.467T>C (p.Phe156Ser) c.347T>C (p.Phe116Ser) n.706T>C c.143T>C (p.Phe48Ser) c.*199T>C (n.*199T>C) c.260T>C (p.Phe87Ser) c.626T>C (p.Phe209Ser) c.578T>C (p.Phe193Ser) | dbSNP gnomAD v4 |
| 21 | g.41480581A>T | CA410320021 | TMPRSS2 | c.467T>A (p.Phe156Tyr) c.347T>A (p.Phe116Tyr) n.706T>A c.143T>A (p.Phe48Tyr) c.*199T>A (n.*199T>A) c.260T>A (p.Phe87Tyr) c.626T>A (p.Phe209Tyr) c.578T>A (p.Phe193Tyr) | dbSNP |
| 21 | g.41480582A>C | CA410320026 | TMPRSS2 | c.466T>G (p.Phe156Val) c.346T>G (p.Phe116Val) n.705T>G c.142T>G (p.Phe48Val) c.*198T>G (n.*198T>G) c.259T>G (p.Phe87Val) c.625T>G (p.Phe209Val) c.577T>G (p.Phe193Val) | |
| 21 | g.41480582A>G | CA410320028 | TMPRSS2 | c.466T>C (p.Phe156Leu) c.346T>C (p.Phe116Leu) n.705T>C c.142T>C (p.Phe48Leu) c.*198T>C (n.*198T>C) c.259T>C (p.Phe87Leu) c.625T>C (p.Phe209Leu) c.577T>C (p.Phe193Leu) | |
| 21 | g.41480582A>T | CA410320030 | TMPRSS2 | c.466T>A (p.Phe156Ile) c.346T>A (p.Phe116Ile) n.705T>A c.142T>A (p.Phe48Ile) c.*198T>A (n.*198T>A) c.259T>A (p.Phe87Ile) c.625T>A (p.Phe209Ile) c.577T>A (p.Phe193Ile) | |
| 21 | g.41480583G>A | CA512391979 | TMPRSS2 | c.465C>T (p.Asn155=) c.345C>T (p.Asn115=) n.704C>T c.141C>T (p.Asn47=) c.*197C>T (n.*197C>T) c.258C>T (p.Asn86=) c.624C>T (p.Asn208=) c.576C>T (p.Asn192=) | |
| 21 | g.41480583G>C | CA320731220 | TMPRSS2 | c.465C>G (p.Asn155Lys) c.345C>G (p.Asn115Lys) n.704C>G c.141C>G (p.Asn47Lys) c.*197C>G (n.*197C>G) c.258C>G (p.Asn86Lys) c.624C>G (p.Asn208Lys) c.576C>G (p.Asn192Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.41480583G= | CA2390342278 | TMPRSS2 | c.465C= (p.Asn155=) c.345C= (p.Asn115=) n.704C= c.141C= (p.Asn47=) c.*197C= (n.*197C=) c.258C= (p.Asn86=) c.624C= (p.Asn208=) c.576C= (p.Asn192=) | |
| 21 | g.41480583G>T | CA410320033 | TMPRSS2 | c.465C>A (p.Asn155Lys) c.345C>A (p.Asn115Lys) n.704C>A c.141C>A (p.Asn47Lys) c.*197C>A (n.*197C>A) c.258C>A (p.Asn86Lys) c.624C>A (p.Asn208Lys) c.576C>A (p.Asn192Lys) | |
| 21 | g.41480584T>A | CA410320038 | TMPRSS2 | c.464A>T (p.Asn155Ile) c.344A>T (p.Asn115Ile) n.703A>T c.140A>T (p.Asn47Ile) c.*196A>T (n.*196A>T) c.257A>T (p.Asn86Ile) c.623A>T (p.Asn208Ile) c.575A>T (p.Asn192Ile) | dbSNP |