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.41480470A>C | CA2737801786 | TMPRSS2 | c.572+6T>G (n.572+6T>G) c.452+6T>G (n.452+6T>G) n.811+6T>G c.248+6T>G (n.248+6T>G) c.*304+6T>G (n.*304+6T>G) c.365+6T>G (n.365+6T>G) c.731+6T>G (n.731+6T>G) c.683+6T>G (n.683+6T>G) | dbSNP |
| 21 | g.41480470A>G | CA2654622897 | TMPRSS2 | c.572+6T>C (n.572+6T>C) c.452+6T>C (n.452+6T>C) n.811+6T>C c.248+6T>C (n.248+6T>C) c.*304+6T>C (n.*304+6T>C) c.365+6T>C (n.365+6T>C) c.731+6T>C (n.731+6T>C) c.683+6T>C (n.683+6T>C) | gnomAD v4 |
| 21 | g.41480470A>T | CA2737801764 | TMPRSS2 | c.572+6T>A (n.572+6T>A) c.452+6T>A (n.452+6T>A) n.811+6T>A c.248+6T>A (n.248+6T>A) c.*304+6T>A (n.*304+6T>A) c.365+6T>A (n.365+6T>A) c.731+6T>A (n.731+6T>A) c.683+6T>A (n.683+6T>A) | dbSNP |
| 21 | g.41480471C>A | CA10034672 | TMPRSS2 | c.572+5G>T (n.572+5G>T) c.452+5G>T (n.452+5G>T) n.811+5G>T c.248+5G>T (n.248+5G>T) c.*304+5G>T (n.*304+5G>T) c.365+5G>T (n.365+5G>T) c.731+5G>T (n.731+5G>T) c.683+5G>T (n.683+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.41480471C= | CA2390342221 | TMPRSS2 | c.572+5G= (n.572+5G=) c.452+5G= (n.452+5G=) n.811+5G= c.248+5G= (n.248+5G=) c.*304+5G= (n.*304+5G=) c.365+5G= (n.365+5G=) c.731+5G= (n.731+5G=) c.683+5G= (n.683+5G=) | |
| 21 | g.41480471C>T | CA2390342222 | TMPRSS2 | c.572+5G>A (n.572+5G>A) c.452+5G>A (n.452+5G>A) n.811+5G>A c.248+5G>A (n.248+5G>A) c.*304+5G>A (n.*304+5G>A) c.365+5G>A (n.365+5G>A) c.731+5G>A (n.731+5G>A) c.683+5G>A (n.683+5G>A) | dbSNP |
| 21 | g.41480472T>C | CA2390342224 | TMPRSS2 | c.572+4A>G (n.572+4A>G) c.452+4A>G (n.452+4A>G) n.811+4A>G c.248+4A>G (n.248+4A>G) c.*304+4A>G (n.*304+4A>G) c.365+4A>G (n.365+4A>G) c.731+4A>G (n.731+4A>G) c.683+4A>G (n.683+4A>G) | dbSNP |
| 21 | g.41480472T= | CA2390342223 | TMPRSS2 | c.572+4A= (n.572+4A=) c.452+4A= (n.452+4A=) n.811+4A= c.248+4A= (n.248+4A=) c.*304+4A= (n.*304+4A=) c.365+4A= (n.365+4A=) c.731+4A= (n.731+4A=) c.683+4A= (n.683+4A=) | |
| 21 | g.41480473C>A | CA2737801800 | TMPRSS2 | c.572+3G>T (n.572+3G>T) c.452+3G>T (n.452+3G>T) n.811+3G>T c.248+3G>T (n.248+3G>T) c.*304+3G>T (n.*304+3G>T) c.365+3G>T (n.365+3G>T) c.731+3G>T (n.731+3G>T) c.683+3G>T (n.683+3G>T) | dbSNP |
| 21 | g.41480473C>T | CA2654622898 | TMPRSS2 | c.572+3G>A (n.572+3G>A) c.452+3G>A (n.452+3G>A) n.811+3G>A c.248+3G>A (n.248+3G>A) c.*304+3G>A (n.*304+3G>A) c.365+3G>A (n.365+3G>A) c.731+3G>A (n.731+3G>A) c.683+3G>A (n.683+3G>A) | dbSNP gnomAD v4 |
| 21 | g.41480473_41480477delinsCACTT | CA2390342225 | TMPRSS2 | c.571_572+3delinsAAGTG c.451_452+3delinsAAGTG n.810_811+3delinsAAGTG c.247_248+3delinsAAGTG c.*303_*304+3delinsAAGTG c.364_365+3delinsAAGTG c.730_731+3delinsAAGTG c.682_683+3delinsAAGTG | |
| 21 | g.41480474A>C | CA410319539 | TMPRSS2 | c.572+2T>G (n.572+2T>G) c.452+2T>G (n.452+2T>G) n.811+2T>G c.248+2T>G (n.248+2T>G) c.*304+2T>G (n.*304+2T>G) c.365+2T>G (n.365+2T>G) c.731+2T>G (n.731+2T>G) c.683+2T>G (n.683+2T>G) | |
| 21 | g.41480474A>G | CA410319541 | TMPRSS2 | c.572+2T>C (n.572+2T>C) c.452+2T>C (n.452+2T>C) n.811+2T>C c.248+2T>C (n.248+2T>C) c.*304+2T>C (n.*304+2T>C) c.365+2T>C (n.365+2T>C) c.731+2T>C (n.731+2T>C) c.683+2T>C (n.683+2T>C) | |
| 21 | g.41480474A>T | CA410319543 | TMPRSS2 | c.572+2T>A (n.572+2T>A) c.452+2T>A (n.452+2T>A) n.811+2T>A c.248+2T>A (n.248+2T>A) c.*304+2T>A (n.*304+2T>A) c.365+2T>A (n.365+2T>A) c.731+2T>A (n.731+2T>A) c.683+2T>A (n.683+2T>A) | dbSNP |
| 21 | g.41480475_41480478del | CA637865357 | TMPRSS2 | c.571_572+2del c.451_452+2del n.810_811+2del c.247_248+2del c.*303_*304+2del c.364_365+2del c.730_731+2del c.682_683+2del | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.41480475C>A | CA410319545 | TMPRSS2 | c.572+1G>T (n.572+1G>T) c.452+1G>T (n.452+1G>T) n.811+1G>T c.248+1G>T (n.248+1G>T) c.*304+1G>T (n.*304+1G>T) c.365+1G>T (n.365+1G>T) c.731+1G>T (n.731+1G>T) c.683+1G>T (n.683+1G>T) | dbSNP |
| 21 | g.41480475C= | CA2390342226 | TMPRSS2 | c.572+1G= (n.572+1G=) c.452+1G= (n.452+1G=) n.811+1G= c.248+1G= (n.248+1G=) c.*304+1G= (n.*304+1G=) c.365+1G= (n.365+1G=) c.731+1G= (n.731+1G=) c.683+1G= (n.683+1G=) | |
| 21 | g.41480475C>G | CA410319546 | TMPRSS2 | c.572+1G>C (n.572+1G>C) c.452+1G>C (n.452+1G>C) n.811+1G>C c.248+1G>C (n.248+1G>C) c.*304+1G>C (n.*304+1G>C) c.365+1G>C (n.365+1G>C) c.731+1G>C (n.731+1G>C) c.683+1G>C (n.683+1G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.41480475C>T | CA410319549 | TMPRSS2 | c.572+1G>A (n.572+1G>A) c.452+1G>A (n.452+1G>A) n.811+1G>A c.248+1G>A (n.248+1G>A) c.*304+1G>A (n.*304+1G>A) c.365+1G>A (n.365+1G>A) c.731+1G>A (n.731+1G>A) c.683+1G>A (n.683+1G>A) | dbSNP gnomAD v4 |
| 21 | g.41480476T>A | CA410319551 | TMPRSS2 | c.572A>T (p.Lys191Met) c.452A>T (p.Lys151Met) n.811A>T c.248A>T (p.Lys83Met) c.*304A>T (n.*304A>T) c.365A>T (p.Lys122Met) c.731A>T (p.Lys244Met) c.683A>T (p.Lys228Met) | |
| 21 | g.41480476T>C | CA410319552 | TMPRSS2 | c.572A>G (p.Lys191Arg) c.452A>G (p.Lys151Arg) n.811A>G c.248A>G (p.Lys83Arg) c.*304A>G (n.*304A>G) c.365A>G (p.Lys122Arg) c.731A>G (p.Lys244Arg) c.683A>G (p.Lys228Arg) | dbSNP |
| 21 | g.41480476T>G | CA410319555 | TMPRSS2 | c.572A>C (p.Lys191Thr) c.452A>C (p.Lys151Thr) n.811A>C c.248A>C (p.Lys83Thr) c.*304A>C (n.*304A>C) c.365A>C (p.Lys122Thr) c.731A>C (p.Lys244Thr) c.683A>C (p.Lys228Thr) | |
| 21 | g.41480477T>A | CA410319557 | TMPRSS2 | c.571A>T (p.Lys191Ter) c.451A>T (p.Lys151Ter) n.810A>T c.247A>T (p.Lys83Ter) c.*303A>T (n.*303A>T) c.364A>T (p.Lys122Ter) c.730A>T (p.Lys244Ter) c.682A>T (p.Lys228Ter) | |
| 21 | g.41480477T>C | CA410319560 | TMPRSS2 | c.571A>G (p.Lys191Glu) c.451A>G (p.Lys151Glu) n.810A>G c.247A>G (p.Lys83Glu) c.*303A>G (n.*303A>G) c.364A>G (p.Lys122Glu) c.730A>G (p.Lys244Glu) c.682A>G (p.Lys228Glu) | |
| 21 | g.41480477T>G | CA410319558 | TMPRSS2 | c.571A>C (p.Lys191Gln) c.451A>C (p.Lys151Gln) n.810A>C c.247A>C (p.Lys83Gln) c.*303A>C (n.*303A>C) c.364A>C (p.Lys122Gln) c.730A>C (p.Lys244Gln) c.682A>C (p.Lys228Gln) | |
| 21 | g.41480478A>C | CA410319566 | TMPRSS2 | c.570T>G (p.Tyr190Ter) c.450T>G (p.Tyr150Ter) n.809T>G c.246T>G (p.Tyr82Ter) c.*302T>G (n.*302T>G) c.363T>G (p.Tyr121Ter) c.729T>G (p.Tyr243Ter) c.681T>G (p.Tyr227Ter) | |
| 21 | g.41480478A>G | CA512391930 | TMPRSS2 | c.570T>C (p.Tyr190=) c.450T>C (p.Tyr150=) n.809T>C c.246T>C (p.Tyr82=) c.*302T>C (n.*302T>C) c.363T>C (p.Tyr121=) c.729T>C (p.Tyr243=) c.681T>C (p.Tyr227=) | |
| 21 | g.41480478A>T | CA410319568 | TMPRSS2 | c.570T>A (p.Tyr190Ter) c.450T>A (p.Tyr150Ter) n.809T>A c.246T>A (p.Tyr82Ter) c.*302T>A (n.*302T>A) c.363T>A (p.Tyr121Ter) c.729T>A (p.Tyr243Ter) c.681T>A (p.Tyr227Ter) | dbSNP |
| 21 | g.41480479T>A | CA410319570 | TMPRSS2 | c.569A>T (p.Tyr190Phe) c.449A>T (p.Tyr150Phe) n.808A>T c.245A>T (p.Tyr82Phe) c.*301A>T (n.*301A>T) c.362A>T (p.Tyr121Phe) c.728A>T (p.Tyr243Phe) c.680A>T (p.Tyr227Phe) | |
| 21 | g.41480479T>C | CA410319573 | TMPRSS2 | c.569A>G (p.Tyr190Cys) c.449A>G (p.Tyr150Cys) n.808A>G c.245A>G (p.Tyr82Cys) c.*301A>G (n.*301A>G) c.362A>G (p.Tyr121Cys) c.728A>G (p.Tyr243Cys) c.680A>G (p.Tyr227Cys) | dbSNP |
| 21 | g.41480479T>G | CA410319571 | TMPRSS2 | c.569A>C (p.Tyr190Ser) c.449A>C (p.Tyr150Ser) n.808A>C c.245A>C (p.Tyr82Ser) c.*301A>C (n.*301A>C) c.362A>C (p.Tyr121Ser) c.728A>C (p.Tyr243Ser) c.680A>C (p.Tyr227Ser) | gnomAD v4 |
| 21 | g.41480480A= | CA2390342227 | TMPRSS2 | c.568T= (p.Tyr190=) c.448T= (p.Tyr150=) n.807T= c.244T= (p.Tyr82=) c.*300T= (n.*300T=) c.361T= (p.Tyr121=) c.727T= (p.Tyr243=) c.679T= (p.Tyr227=) | |
| 21 | g.41480480A>C | CA410319575 | TMPRSS2 | c.568T>G (p.Tyr190Asp) c.448T>G (p.Tyr150Asp) n.807T>G c.244T>G (p.Tyr82Asp) c.*300T>G (n.*300T>G) c.361T>G (p.Tyr121Asp) c.727T>G (p.Tyr243Asp) c.679T>G (p.Tyr227Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.41480480A>G | CA410319578 | TMPRSS2 | c.568T>C (p.Tyr190His) c.448T>C (p.Tyr150His) n.807T>C c.244T>C (p.Tyr82His) c.*300T>C (n.*300T>C) c.361T>C (p.Tyr121His) c.727T>C (p.Tyr243His) c.679T>C (p.Tyr227His) | gnomAD v4 |
| 21 | g.41480480A>T | CA410319577 | TMPRSS2 | c.568T>A (p.Tyr190Asn) c.448T>A (p.Tyr150Asn) n.807T>A c.244T>A (p.Tyr82Asn) c.*300T>A (n.*300T>A) c.361T>A (p.Tyr121Asn) c.727T>A (p.Tyr243Asn) c.679T>A (p.Tyr227Asn) | dbSNP |
| 21 | g.41480481G>A | CA512391931 | TMPRSS2 | c.567C>T (p.Gly189=) c.447C>T (p.Gly149=) n.806C>T c.243C>T (p.Gly81=) c.*299C>T (n.*299C>T) c.360C>T (p.Gly120=) c.726C>T (p.Gly242=) c.678C>T (p.Gly226=) | |
| 21 | g.41480481G>C | CA512391932 | TMPRSS2 | c.567C>G (p.Gly189=) c.447C>G (p.Gly149=) n.806C>G c.243C>G (p.Gly81=) c.*299C>G (n.*299C>G) c.360C>G (p.Gly120=) c.726C>G (p.Gly242=) c.678C>G (p.Gly226=) | |
| 21 | g.41480481G>T | CA512391933 | TMPRSS2 | c.567C>A (p.Gly189=) c.447C>A (p.Gly149=) n.806C>A c.243C>A (p.Gly81=) c.*299C>A (n.*299C>A) c.360C>A (p.Gly120=) c.726C>A (p.Gly242=) c.678C>A (p.Gly226=) | gnomAD v4 |
| 21 | g.41480482C>A | CA410319580 | TMPRSS2 | c.566G>T (p.Gly189Val) c.446G>T (p.Gly149Val) n.805G>T c.242G>T (p.Gly81Val) c.*298G>T (n.*298G>T) c.359G>T (p.Gly120Val) c.725G>T (p.Gly242Val) c.677G>T (p.Gly226Val) | dbSNP gnomAD v4 |
| 21 | g.41480482C= | CA2390342228 | TMPRSS2 | c.566G= (p.Gly189=) c.446G= (p.Gly149=) n.805G= c.242G= (p.Gly81=) c.*298G= (n.*298G=) c.359G= (p.Gly120=) c.725G= (p.Gly242=) c.677G= (p.Gly226=) | |
| 21 | g.41480482C>G | CA410319583 | TMPRSS2 | c.566G>C (p.Gly189Ala) c.446G>C (p.Gly149Ala) n.805G>C c.242G>C (p.Gly81Ala) c.*298G>C (n.*298G>C) c.359G>C (p.Gly120Ala) c.725G>C (p.Gly242Ala) c.677G>C (p.Gly226Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.41480482C>T | CA410319582 | TMPRSS2 | c.566G>A (p.Gly189Asp) c.446G>A (p.Gly149Asp) n.805G>A c.242G>A (p.Gly81Asp) c.*298G>A (n.*298G>A) c.359G>A (p.Gly120Asp) c.725G>A (p.Gly242Asp) c.677G>A (p.Gly226Asp) | dbSNP |
| 21 | g.41480483C>A | CA10034673 | TMPRSS2 | c.565G>T (p.Gly189Cys) c.445G>T (p.Gly149Cys) n.804G>T c.241G>T (p.Gly81Cys) c.*297G>T (n.*297G>T) c.358G>T (p.Gly120Cys) c.724G>T (p.Gly242Cys) c.676G>T (p.Gly226Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.41480483C= | CA2390342229 | TMPRSS2 | c.565G= (p.Gly189=) c.445G= (p.Gly149=) n.804G= c.241G= (p.Gly81=) c.*297G= (n.*297G=) c.358G= (p.Gly120=) c.724G= (p.Gly242=) c.676G= (p.Gly226=) | |
| 21 | g.41480483C>G | CA410319587 | TMPRSS2 | c.565G>C (p.Gly189Arg) c.445G>C (p.Gly149Arg) n.804G>C c.241G>C (p.Gly81Arg) c.*297G>C (n.*297G>C) c.358G>C (p.Gly120Arg) c.724G>C (p.Gly242Arg) c.676G>C (p.Gly226Arg) | |
| 21 | g.41480483C>T | CA410319588 | TMPRSS2 | c.565G>A (p.Gly189Ser) c.445G>A (p.Gly149Ser) n.804G>A c.241G>A (p.Gly81Ser) c.*297G>A (n.*297G>A) c.358G>A (p.Gly120Ser) c.724G>A (p.Gly242Ser) c.676G>A (p.Gly226Ser) | dbSNP |
| 21 | g.41480484C>A | CA410319589 | TMPRSS2 | c.564G>T (p.Met188Ile) c.444G>T (p.Met148Ile) n.803G>T c.240G>T (p.Met80Ile) c.*296G>T (n.*296G>T) c.357G>T (p.Met119Ile) c.723G>T (p.Met241Ile) c.675G>T (p.Met225Ile) | dbSNP |
| 21 | g.41480484C= | CA2390342230 | TMPRSS2 | c.564G= (p.Met188=) c.444G= (p.Met148=) n.803G= c.240G= (p.Met80=) c.*296G= (n.*296G=) c.357G= (p.Met119=) c.723G= (p.Met241=) c.675G= (p.Met225=) | |
| 21 | g.41480484C>G | CA410319590 | TMPRSS2 | c.564G>C (p.Met188Ile) c.444G>C (p.Met148Ile) n.803G>C c.240G>C (p.Met80Ile) c.*296G>C (n.*296G>C) c.357G>C (p.Met119Ile) c.723G>C (p.Met241Ile) c.675G>C (p.Met225Ile) | |
| 21 | g.41480484C>T | CA410319591 | TMPRSS2 | c.564G>A (p.Met188Ile) c.444G>A (p.Met148Ile) n.803G>A c.240G>A (p.Met80Ile) c.*296G>A (n.*296G>A) c.357G>A (p.Met119Ile) c.723G>A (p.Met241Ile) c.675G>A (p.Met225Ile) | dbSNP gnomAD v2 gnomAD v4 |