UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.173911871A= | CA1207937813 | SERPINC1 | c.552T= (p.Leu184=) n.257T= c.408T= (p.Leu136=) c.633T= (p.Leu211=) c.409-980T= (n.409-980T=) | |
| 1 | g.173911871A>C | CA421822989 | SERPINC1 | c.552T>G (p.Leu184=) n.257T>G c.408T>G (p.Leu136=) c.633T>G (p.Leu211=) c.409-980T>G (n.409-980T>G) | |
| 1 | g.173911871A>G | CA421822990 | SERPINC1 | c.552T>C (p.Leu184=) n.257T>C c.408T>C (p.Leu136=) c.633T>C (p.Leu211=) c.409-980T>C (n.409-980T>C) | dbSNP gnomAD v4 |
| 1 | g.173911871A>T | CA421822991 | SERPINC1 | c.552T>A (p.Leu184=) n.257T>A c.408T>A (p.Leu136=) c.633T>A (p.Leu211=) c.409-980T>A (n.409-980T>A) | |
| 1 | g.173911872A= | CA1207937815 | SERPINC1 | c.551T= (p.Leu184=) n.256T= c.407T= (p.Leu136=) c.632T= (p.Leu211=) c.409-981T= (n.409-981T=) | |
| 1 | g.173911872A>C | CA343776406 | SERPINC1 | c.551T>G (p.Leu184Arg) n.256T>G c.407T>G (p.Leu136Arg) c.632T>G (p.Leu211Arg) c.409-981T>G (n.409-981T>G) | dbSNP |
| 1 | g.173911872A>G | CA343776408 | SERPINC1 | c.551T>C (p.Leu184Pro) n.256T>C c.407T>C (p.Leu136Pro) c.632T>C (p.Leu211Pro) c.409-981T>C (n.409-981T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911872A>T | CA343776407 | SERPINC1 | c.551T>A (p.Leu184His) n.256T>A c.407T>A (p.Leu136His) c.632T>A (p.Leu211His) c.409-981T>A (n.409-981T>A) | |
| 1 | g.173911872_173911873delinsAG | CA1207937814 | SERPINC1 | c.550_551delinsCT (p.Leu184=) n.255_256delinsCT c.406_407delinsCT (p.Leu136=) c.631_632delinsCT (p.Leu211=) c.409-982_409-981delinsCT (n.409-982_409-981delinsCT) | |
| 1 | g.173911873G>A | CA343776410 | SERPINC1 | c.550C>T (p.Leu184Phe) n.255C>T c.406C>T (p.Leu136Phe) c.631C>T (p.Leu211Phe) c.409-982C>T (n.409-982C>T) | |
| 1 | g.173911873G>C | CA343776411 | SERPINC1 | c.550C>G (p.Leu184Val) n.255C>G c.406C>G (p.Leu136Val) c.631C>G (p.Leu211Val) c.409-982C>G (n.409-982C>G) | |
| 1 | g.173911873G>T | CA343776413 | SERPINC1 | c.550C>A (p.Leu184Ile) n.255C>A c.406C>A (p.Leu136Ile) c.631C>A (p.Leu211Ile) c.409-982C>A (n.409-982C>A) | |
| 1 | g.173911873_173911875del | CA2695195504 | SERPINC1 | c.548_550del (p.Ser183_Leu184delinsPhe) n.253_255del c.404_406del (p.Ser135_Leu136delinsPhe) c.629_631del (p.Ser210_Leu211delinsPhe) c.409-984_409-982del (n.409-984_409-982del) | |
| 1 | g.173911875del | CA915943673 | SERPINC1 | c.550del (p.Thr185ProfsTer?) n.255del c.550del (p.Thr185ProfsTer18) c.406del (p.Thr137ProfsTer?) c.631del (p.Thr212ProfsTer?) c.409-982del (n.409-982del) | ClinVar dbSNP |
| 1 | g.173911874G>A | CA421822994 | SERPINC1 | c.549C>T (p.Ser183=) n.254C>T c.405C>T (p.Ser135=) c.630C>T (p.Ser210=) c.409-983C>T (n.409-983C>T) | gnomAD v4 |
| 1 | g.173911874G>C | CA421822995 | SERPINC1 | c.549C>G (p.Ser183=) n.254C>G c.405C>G (p.Ser135=) c.630C>G (p.Ser210=) c.409-983C>G (n.409-983C>G) | |
| 1 | g.173911874G>T | CA421822997 | SERPINC1 | c.549C>A (p.Ser183=) n.254C>A c.405C>A (p.Ser135=) c.630C>A (p.Ser210=) c.409-983C>A (n.409-983C>A) | |
| 1 | g.173911875G>A | CA343776415 | SERPINC1 | c.548C>T (p.Ser183Phe) n.253C>T c.404C>T (p.Ser135Phe) c.629C>T (p.Ser210Phe) c.409-984C>T (n.409-984C>T) | |
| 1 | g.173911875G>C | CA343776417 | SERPINC1 | c.548C>G (p.Ser183Cys) n.253C>G c.404C>G (p.Ser135Cys) c.629C>G (p.Ser210Cys) c.409-984C>G (n.409-984C>G) | |
| 1 | g.173911875G>T | CA343776418 | SERPINC1 | c.548C>A (p.Ser183Tyr) n.253C>A c.404C>A (p.Ser135Tyr) c.629C>A (p.Ser210Tyr) c.409-984C>A (n.409-984C>A) | |
| 1 | g.173911876A>C | CA343776420 | SERPINC1 | c.547T>G (p.Ser183Ala) n.252T>G c.403T>G (p.Ser135Ala) c.628T>G (p.Ser210Ala) c.409-985T>G (n.409-985T>G) | |
| 1 | g.173911876A>G | CA343776421 | SERPINC1 | c.547T>C (p.Ser183Pro) n.252T>C c.403T>C (p.Ser135Pro) c.628T>C (p.Ser210Pro) c.409-985T>C (n.409-985T>C) | ClinVar dbSNP |
| 1 | g.173911876A>T | CA343776423 | SERPINC1 | c.547T>A (p.Ser183Thr) n.252T>A c.403T>A (p.Ser135Thr) c.628T>A (p.Ser210Thr) c.409-985T>A (n.409-985T>A) | |
| 1 | g.173911877T>A | CA343776424 | SERPINC1 | c.546A>T (p.Lys182Asn) n.251A>T c.402A>T (p.Lys134Asn) c.627A>T (p.Lys209Asn) c.409-986A>T (n.409-986A>T) | |
| 1 | g.173911877T>C | CA421823003 | SERPINC1 | c.546A>G (p.Lys182=) n.251A>G c.402A>G (p.Lys134=) c.627A>G (p.Lys209=) c.409-986A>G (n.409-986A>G) | |
| 1 | g.173911877T>G | CA343776425 | SERPINC1 | c.546A>C (p.Lys182Asn) n.251A>C c.402A>C (p.Lys134Asn) c.627A>C (p.Lys209Asn) c.409-986A>C (n.409-986A>C) | |
| 1 | g.173911879del | CA2739292068 | SERPINC1 | c.546del (p.Lys182AsnfsTer?) n.251del c.546del (p.Lys182AsnfsTer21) c.402del (p.Lys134AsnfsTer?) c.627del (p.Lys209AsnfsTer?) c.409-986del (n.409-986del) | |
| 1 | g.173911878T>A | CA343776431 | SERPINC1 | c.545A>T (p.Lys182Ile) n.250A>T c.401A>T (p.Lys134Ile) c.626A>T (p.Lys209Ile) c.409-987A>T (n.409-987A>T) | |
| 1 | g.173911878T>C | CA343776427 | SERPINC1 | c.545A>G (p.Lys182Arg) n.250A>G c.401A>G (p.Lys134Arg) c.626A>G (p.Lys209Arg) c.409-987A>G (n.409-987A>G) | |
| 1 | g.173911878T>G | CA343776429 | SERPINC1 | c.545A>C (p.Lys182Thr) n.250A>C c.401A>C (p.Lys134Thr) c.626A>C (p.Lys209Thr) c.409-987A>C (n.409-987A>C) | |
| 1 | g.173911879T>A | CA343776432 | SERPINC1 | c.544A>T (p.Lys182Ter) n.249A>T c.400A>T (p.Lys134Ter) c.625A>T (p.Lys209Ter) c.409-988A>T (n.409-988A>T) | |
| 1 | g.173911879T>C | CA343776434 | SERPINC1 | c.544A>G (p.Lys182Glu) n.249A>G c.400A>G (p.Lys134Glu) c.625A>G (p.Lys209Glu) c.409-988A>G (n.409-988A>G) | |
| 1 | g.173911879T>G | CA343776436 | SERPINC1 | c.544A>C (p.Lys182Gln) n.249A>C c.400A>C (p.Lys134Gln) c.625A>C (p.Lys209Gln) c.409-988A>C (n.409-988A>C) | |
| 1 | g.173911880G>A | CA421823005 | SERPINC1 | c.543C>T (p.Asp181=) n.248C>T c.399C>T (p.Asp133=) c.624C>T (p.Asp208=) c.409-989C>T (n.409-989C>T) | |
| 1 | g.173911880G>C | CA343776438 | SERPINC1 | c.543C>G (p.Asp181Glu) n.248C>G c.399C>G (p.Asp133Glu) c.624C>G (p.Asp208Glu) c.409-989C>G (n.409-989C>G) | |
| 1 | g.173911880G= | CA1207937816 | SERPINC1 | c.543C= (p.Asp181=) n.248C= c.399C= (p.Asp133=) c.624C= (p.Asp208=) c.409-989C= (n.409-989C=) | |
| 1 | g.173911880G>T | CA343776439 | SERPINC1 | c.543C>A (p.Asp181Glu) n.248C>A c.399C>A (p.Asp133Glu) c.624C>A (p.Asp208Glu) c.409-989C>A (n.409-989C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911881T>A | CA343776442 | SERPINC1 | c.542A>T (p.Asp181Val) n.247A>T c.398A>T (p.Asp133Val) c.623A>T (p.Asp208Val) c.409-990A>T (n.409-990A>T) | |
| 1 | g.173911881T>C | CA343776443 | SERPINC1 | c.542A>G (p.Asp181Gly) n.247A>G c.398A>G (p.Asp133Gly) c.623A>G (p.Asp208Gly) c.409-990A>G (n.409-990A>G) | |
| 1 | g.173911881T>G | CA343776445 | SERPINC1 | c.542A>C (p.Asp181Ala) n.247A>C c.398A>C (p.Asp133Ala) c.623A>C (p.Asp208Ala) c.409-990A>C (n.409-990A>C) | |
| 1 | g.173911882C>A | CA343776447 | SERPINC1 | c.541G>T (p.Asp181Tyr) n.246G>T c.397G>T (p.Asp133Tyr) c.622G>T (p.Asp208Tyr) c.409-991G>T (n.409-991G>T) | |
| 1 | g.173911882C= | CA1207937817 | SERPINC1 | c.541G= (p.Asp181=) n.246G= c.397G= (p.Asp133=) c.622G= (p.Asp208=) c.409-991G= (n.409-991G=) | |
| 1 | g.173911882C>G | CA343776449 | SERPINC1 | c.541G>C (p.Asp181His) n.246G>C c.397G>C (p.Asp133His) c.622G>C (p.Asp208His) c.409-991G>C (n.409-991G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911882C>T | CA343776450 | SERPINC1 | c.541G>A (p.Asp181Asn) n.246G>A c.397G>A (p.Asp133Asn) c.622G>A (p.Asp208Asn) c.409-991G>A (n.409-991G>A) | |
| 1 | g.173911883T>A | CA421823012 | SERPINC1 | c.540A>T (p.Gly180=) n.245A>T c.396A>T (p.Gly132=) c.621A>T (p.Gly207=) c.409-992A>T (n.409-992A>T) | |
| 1 | g.173911883T>C | CA421823014 | SERPINC1 | c.540A>G (p.Gly180=) n.245A>G c.396A>G (p.Gly132=) c.621A>G (p.Gly207=) c.409-992A>G (n.409-992A>G) | |
| 1 | g.173911883T>G | CA421823013 | SERPINC1 | c.540A>C (p.Gly180=) n.245A>C c.396A>C (p.Gly132=) c.621A>C (p.Gly207=) c.409-992A>C (n.409-992A>C) | |
| 1 | g.173911884C>A | CA343776454 | SERPINC1 | c.539G>T (p.Gly180Val) n.244G>T c.395G>T (p.Gly132Val) c.620G>T (p.Gly207Val) c.409-993G>T (n.409-993G>T) | |
| 1 | g.173911884C>G | CA343776456 | SERPINC1 | c.539G>C (p.Gly180Ala) n.244G>C c.395G>C (p.Gly132Ala) c.620G>C (p.Gly207Ala) c.409-993G>C (n.409-993G>C) | |
| 1 | g.173911884C>T | CA343776452 | SERPINC1 | c.539G>A (p.Gly180Glu) n.244G>A c.395G>A (p.Gly132Glu) c.620G>A (p.Gly207Glu) c.409-993G>A (n.409-993G>A) | COSMIC |
| 1 | g.173911885C>A | CA343776458 | SERPINC1 | c.538G>T (p.Gly180Ter) n.243G>T c.394G>T (p.Gly132Ter) c.619G>T (p.Gly207Ter) c.409-994G>T (n.409-994G>T) | |
| 1 | g.173911885C>G | CA343776459 | SERPINC1 | c.538G>C (p.Gly180Arg) n.243G>C c.394G>C (p.Gly132Arg) c.619G>C (p.Gly207Arg) c.409-994G>C (n.409-994G>C) | |
| 1 | g.173911885C>T | CA343776461 | SERPINC1 | c.538G>A (p.Gly180Arg) n.243G>A c.394G>A (p.Gly132Arg) c.619G>A (p.Gly207Arg) c.409-994G>A (n.409-994G>A) | |
| 1 | g.173911886A>C | CA343776462 | SERPINC1 | c.537T>G (p.Phe179Leu) n.242T>G c.393T>G (p.Phe131Leu) c.618T>G (p.Phe206Leu) c.409-995T>G (n.409-995T>G) | |
| 1 | g.173911886A>G | CA421823016 | SERPINC1 | c.537T>C (p.Phe179=) n.242T>C c.393T>C (p.Phe131=) c.618T>C (p.Phe206=) c.409-995T>C (n.409-995T>C) | |
| 1 | g.173911886A>T | CA343776464 | SERPINC1 | c.537T>A (p.Phe179Leu) n.242T>A c.393T>A (p.Phe131Leu) c.618T>A (p.Phe206Leu) c.409-995T>A (n.409-995T>A) | |
| 1 | g.173911887A= | CA1144233211 | SERPINC1 | c.536T= (p.Phe179=) n.241T= c.392T= (p.Phe131=) c.617T= (p.Phe206=) c.409-996T= (n.409-996T=) | |
| 1 | g.173911887A>C | CA343776468 | SERPINC1 | c.536T>G (p.Phe179Cys) n.241T>G c.392T>G (p.Phe131Cys) c.617T>G (p.Phe206Cys) c.409-996T>G (n.409-996T>G) | dbSNP |
| 1 | g.173911887A>G | CA343776467 | SERPINC1 | c.536T>C (p.Phe179Ser) n.241T>C c.392T>C (p.Phe131Ser) c.617T>C (p.Phe206Ser) c.409-996T>C (n.409-996T>C) | ClinVar dbSNP |
| 1 | g.173911887A>T | CA150690 | SERPINC1 | c.536T>A (p.Phe179Tyr) n.241T>A c.392T>A (p.Phe131Tyr) c.617T>A (p.Phe206Tyr) c.409-996T>A (n.409-996T>A) | ClinVar dbSNP |
| 1 | g.173911888A= | CA1207937818 | SERPINC1 | c.535T= (p.Phe179=) n.240T= c.391T= (p.Phe131=) c.616T= (p.Phe206=) c.409-997T= (n.409-997T=) | |
| 1 | g.173911888A>C | CA1251402 | SERPINC1 | c.535T>G (p.Phe179Val) n.240T>G c.391T>G (p.Phe131Val) c.616T>G (p.Phe206Val) c.409-997T>G (n.409-997T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911888A>G | CA343776471 | SERPINC1 | c.535T>C (p.Phe179Leu) n.240T>C c.391T>C (p.Phe131Leu) c.616T>C (p.Phe206Leu) c.409-997T>C (n.409-997T>C) | |
| 1 | g.173911888A>T | CA343776473 | SERPINC1 | c.535T>A (p.Phe179Ile) n.240T>A c.391T>A (p.Phe131Ile) c.616T>A (p.Phe206Ile) c.409-997T>A (n.409-997T>A) | gnomAD v4 |
| 1 | g.173911889A>C | CA421823021 | SERPINC1 | c.534T>G (p.Leu178=) n.239T>G c.390T>G (p.Leu130=) c.615T>G (p.Leu205=) c.409-998T>G (n.409-998T>G) | |
| 1 | g.173911889A>G | CA421823023 | SERPINC1 | c.534T>C (p.Leu178=) n.239T>C c.390T>C (p.Leu130=) c.615T>C (p.Leu205=) c.409-998T>C (n.409-998T>C) | |
| 1 | g.173911889A>T | CA421823024 | SERPINC1 | c.534T>A (p.Leu178=) n.239T>A c.390T>A (p.Leu130=) c.615T>A (p.Leu205=) c.409-998T>A (n.409-998T>A) | |
| 1 | g.173911890A>C | CA343776475 | SERPINC1 | c.533T>G (p.Leu178Arg) n.238T>G c.389T>G (p.Leu130Arg) c.614T>G (p.Leu205Arg) c.409-999T>G (n.409-999T>G) | COSMIC |
| 1 | g.173911890A>G | CA343776476 | SERPINC1 | c.533T>C (p.Leu178Pro) n.238T>C c.389T>C (p.Leu130Pro) c.614T>C (p.Leu205Pro) c.409-999T>C (n.409-999T>C) | |
| 1 | g.173911890A>T | CA343776478 | SERPINC1 | c.533T>A (p.Leu178His) n.238T>A c.389T>A (p.Leu130His) c.614T>A (p.Leu205His) c.409-999T>A (n.409-999T>A) | |
| 1 | g.173911891G>A | CA343776479 | SERPINC1 | c.532C>T (p.Leu178Phe) n.237C>T c.388C>T (p.Leu130Phe) c.613C>T (p.Leu205Phe) c.409-1000C>T (n.409-1000C>T) | gnomAD v4 |
| 1 | g.173911891G>C | CA343776481 | SERPINC1 | c.532C>G (p.Leu178Val) n.237C>G c.388C>G (p.Leu130Val) c.613C>G (p.Leu205Val) c.409-1000C>G (n.409-1000C>G) | |
| 1 | g.173911891G>T | CA343776480 | SERPINC1 | c.532C>A (p.Leu178Ile) n.237C>A c.388C>A (p.Leu130Ile) c.613C>A (p.Leu205Ile) c.409-1000C>A (n.409-1000C>A) | |
| 1 | g.173911892G>A | CA421823028 | SERPINC1 | c.531C>T (p.Arg177=) n.236C>T c.387C>T (p.Arg129=) c.612C>T (p.Arg204=) c.409-1001C>T (n.409-1001C>T) | |
| 1 | g.173911892G>C | CA421823027 | SERPINC1 | c.531C>G (p.Arg177=) n.236C>G c.387C>G (p.Arg129=) c.612C>G (p.Arg204=) c.409-1001C>G (n.409-1001C>G) | |
| 1 | g.173911892G>T | CA421823026 | SERPINC1 | c.531C>A (p.Arg177=) n.236C>A c.387C>A (p.Arg129=) c.612C>A (p.Arg204=) c.409-1001C>A (n.409-1001C>A) | |
| 1 | g.173911893C>A | CA343776483 | SERPINC1 | c.530G>T (p.Arg177Leu) n.235G>T c.386G>T (p.Arg129Leu) c.611G>T (p.Arg204Leu) c.409-1002G>T (n.409-1002G>T) | dbSNP |
| 1 | g.173911893C= | CA1207937819 | SERPINC1 | c.530G= (p.Arg177=) n.235G= c.386G= (p.Arg129=) c.611G= (p.Arg204=) c.409-1002G= (n.409-1002G=) | |
| 1 | g.173911893C>G | CA343776484 | SERPINC1 | c.530G>C (p.Arg177Pro) n.235G>C c.386G>C (p.Arg129Pro) c.611G>C (p.Arg204Pro) c.409-1002G>C (n.409-1002G>C) | |
| 1 | g.173911893C>T | CA10581757 | SERPINC1 | c.530G>A (p.Arg177His) n.235G>A c.386G>A (p.Arg129His) c.611G>A (p.Arg204His) c.409-1002G>A (n.409-1002G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911894G>A | CA1251403 | SERPINC1 | c.529C>T (p.Arg177Cys) n.234C>T c.385C>T (p.Arg129Cys) c.610C>T (p.Arg204Cys) c.409-1003C>T (n.409-1003C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911894G>C | CA343776487 | SERPINC1 | c.529C>G (p.Arg177Gly) n.234C>G c.385C>G (p.Arg129Gly) c.610C>G (p.Arg204Gly) c.409-1003C>G (n.409-1003C>G) | |
| 1 | g.173911894G= | CA1141934734 | SERPINC1 | c.529C= (p.Arg177=) n.234C= c.385C= (p.Arg129=) c.610C= (p.Arg204=) c.409-1003C= (n.409-1003C=) | |
| 1 | g.173911894G>T | CA343776489 | SERPINC1 | c.529C>A (p.Arg177Ser) n.234C>A c.385C>A (p.Arg129Ser) c.610C>A (p.Arg204Ser) c.409-1003C>A (n.409-1003C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911895A= | CA1207937820 | SERPINC1 | c.528T= (p.Asn176=) n.233T= c.384T= (p.Asn128=) c.609T= (p.Asn203=) c.409-1004T= (n.409-1004T=) | |
| 1 | g.173911895A>C | CA343776490 | SERPINC1 | c.528T>G (p.Asn176Lys) n.233T>G c.384T>G (p.Asn128Lys) c.609T>G (p.Asn203Lys) c.409-1004T>G (n.409-1004T>G) | |
| 1 | g.173911895A>G | CA421823032 | SERPINC1 | c.528T>C (p.Asn176=) n.233T>C c.384T>C (p.Asn128=) c.609T>C (p.Asn203=) c.409-1004T>C (n.409-1004T>C) | dbSNP |
| 1 | g.173911895A>T | CA343776492 | SERPINC1 | c.528T>A (p.Asn176Lys) n.233T>A c.384T>A (p.Asn128Lys) c.609T>A (p.Asn203Lys) c.409-1004T>A (n.409-1004T>A) | |
| 1 | g.173911896T>A | CA343776495 | SERPINC1 | c.527A>T (p.Asn176Ile) n.232A>T c.383A>T (p.Asn128Ile) c.608A>T (p.Asn203Ile) c.409-1005A>T (n.409-1005A>T) | |
| 1 | g.173911896T>C | CA343776496 | SERPINC1 | c.527A>G (p.Asn176Ser) n.232A>G c.383A>G (p.Asn128Ser) c.608A>G (p.Asn203Ser) c.409-1005A>G (n.409-1005A>G) | dbSNP |
| 1 | g.173911896T>G | CA343776497 | SERPINC1 | c.527A>C (p.Asn176Thr) n.232A>C c.383A>C (p.Asn128Thr) c.608A>C (p.Asn203Thr) c.409-1005A>C (n.409-1005A>C) | |
| 1 | g.173911896T= | CA1207937821 | SERPINC1 | c.527A= (p.Asn176=) n.232A= c.383A= (p.Asn128=) c.608A= (p.Asn203=) c.409-1005A= (n.409-1005A=) | |
| 1 | g.173911897T>A | CA343776502 | SERPINC1 | c.526A>T (p.Asn176Tyr) n.231A>T c.382A>T (p.Asn128Tyr) c.607A>T (p.Asn203Tyr) c.409-1006A>T (n.409-1006A>T) | |
| 1 | g.173911897T>C | CA343776501 | SERPINC1 | c.526A>G (p.Asn176Asp) n.231A>G c.382A>G (p.Asn128Asp) c.607A>G (p.Asn203Asp) c.409-1006A>G (n.409-1006A>G) | |
| 1 | g.173911897T>G | CA343776499 | SERPINC1 | c.526A>C (p.Asn176His) n.231A>C c.382A>C (p.Asn128His) c.607A>C (p.Asn203His) c.409-1006A>C (n.409-1006A>C) | |
| 1 | g.173911898G>A | CA421823035 | SERPINC1 | c.525C>T (p.Ala175=) n.230C>T c.381C>T (p.Ala127=) c.606C>T (p.Ala202=) c.409-1007C>T (n.409-1007C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173911898G>C | CA421823036 | SERPINC1 | c.525C>G (p.Ala175=) n.230C>G c.381C>G (p.Ala127=) c.606C>G (p.Ala202=) c.409-1007C>G (n.409-1007C>G) | |
| 1 | g.173911898G= | CA1207937822 | SERPINC1 | c.525C= (p.Ala175=) n.230C= c.381C= (p.Ala127=) c.606C= (p.Ala202=) c.409-1007C= (n.409-1007C=) | |
| 1 | g.173911898G>T | CA421823037 | SERPINC1 | c.525C>A (p.Ala175=) n.230C>A c.381C>A (p.Ala127=) c.606C>A (p.Ala202=) c.409-1007C>A (n.409-1007C>A) | |
| 1 | g.173911899G>A | CA343776504 | SERPINC1 | c.524C>T (p.Ala175Val) n.229C>T c.380C>T (p.Ala127Val) c.605C>T (p.Ala202Val) c.409-1008C>T (n.409-1008C>T) | |
| 1 | g.173911899G>C | CA343776506 | SERPINC1 | c.524C>G (p.Ala175Gly) n.229C>G c.380C>G (p.Ala127Gly) c.605C>G (p.Ala202Gly) c.409-1008C>G (n.409-1008C>G) | |
| 1 | g.173911899G>T | CA343776507 | SERPINC1 | c.524C>A (p.Ala175Asp) n.229C>A c.380C>A (p.Ala127Asp) c.605C>A (p.Ala202Asp) c.409-1008C>A (n.409-1008C>A) | |
| 1 | g.173911900C>A | CA343776509 | SERPINC1 | c.523G>T (p.Ala175Ser) n.228G>T c.379G>T (p.Ala127Ser) c.604G>T (p.Ala202Ser) c.409-1009G>T (n.409-1009G>T) | |
| 1 | g.173911900C= | CA1207937823 | SERPINC1 | c.523G= (p.Ala175=) n.228G= c.379G= (p.Ala127=) c.604G= (p.Ala202=) c.409-1009G= (n.409-1009G=) | |
| 1 | g.173911900C>G | CA343776511 | SERPINC1 | c.523G>C (p.Ala175Pro) n.228G>C c.379G>C (p.Ala127Pro) c.604G>C (p.Ala202Pro) c.409-1009G>C (n.409-1009G>C) | |
| 1 | g.173911900C>T | CA343776513 | SERPINC1 | c.523G>A (p.Ala175Thr) n.228G>A c.379G>A (p.Ala127Thr) c.604G>A (p.Ala202Thr) c.409-1009G>A (n.409-1009G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173911901T>A | CA421823042 | SERPINC1 | c.522A>T (p.Ser174=) n.227A>T c.378A>T (p.Ser126=) c.603A>T (p.Ser201=) c.409-1010A>T (n.409-1010A>T) | |
| 1 | g.173911901T>C | CA421823043 | SERPINC1 | c.522A>G (p.Ser174=) n.227A>G c.378A>G (p.Ser126=) c.603A>G (p.Ser201=) c.409-1010A>G (n.409-1010A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911901T>G | CA421823044 | SERPINC1 | c.522A>C (p.Ser174=) n.227A>C c.378A>C (p.Ser126=) c.603A>C (p.Ser201=) c.409-1010A>C (n.409-1010A>C) | |
| 1 | g.173911902G>A | CA343776519 | SERPINC1 | c.521C>T (p.Ser174Leu) n.226C>T c.377C>T (p.Ser126Leu) c.602C>T (p.Ser201Leu) c.409-1011C>T (n.409-1011C>T) | |
| 1 | g.173911902G>C | CA343776517 | SERPINC1 | c.521C>G (p.Ser174Ter) n.226C>G c.377C>G (p.Ser126Ter) c.602C>G (p.Ser201Ter) c.409-1011C>G (n.409-1011C>G) | |
| 1 | g.173911902G>T | CA343776515 | SERPINC1 | c.521C>A (p.Ser174Ter) n.226C>A c.377C>A (p.Ser126Ter) c.602C>A (p.Ser201Ter) c.409-1011C>A (n.409-1011C>A) | |
| 1 | g.173911903A>C | CA343776520 | SERPINC1 | c.520T>G (p.Ser174Ala) n.225T>G c.376T>G (p.Ser126Ala) c.601T>G (p.Ser201Ala) c.409-1012T>G (n.409-1012T>G) | |
| 1 | g.173911903A>G | CA343776522 | SERPINC1 | c.520T>C (p.Ser174Pro) n.225T>C c.376T>C (p.Ser126Pro) c.601T>C (p.Ser201Pro) c.409-1012T>C (n.409-1012T>C) | |
| 1 | g.173911903A>T | CA343776524 | SERPINC1 | c.520T>A (p.Ser174Thr) n.225T>A c.376T>A (p.Ser126Thr) c.601T>A (p.Ser201Thr) c.409-1012T>A (n.409-1012T>A) | |
| 1 | g.173911904T>A | CA421823048 | SERPINC1 | c.519A>T (p.Val173=) n.224A>T c.375A>T (p.Val125=) c.600A>T (p.Val200=) c.409-1013A>T (n.409-1013A>T) | |
| 1 | g.173911904T>C | CA421823049 | SERPINC1 | c.519A>G (p.Val173=) n.224A>G c.375A>G (p.Val125=) c.600A>G (p.Val200=) c.409-1013A>G (n.409-1013A>G) | |
| 1 | g.173911904T>G | CA421823051 | SERPINC1 | c.519A>C (p.Val173=) n.224A>C c.375A>C (p.Val125=) c.600A>C (p.Val200=) c.409-1013A>C (n.409-1013A>C) | |
| 1 | g.173911905A= | CA1207937824 | SERPINC1 | c.518T= (p.Val173=) n.223T= c.374T= (p.Val125=) c.599T= (p.Val200=) c.409-1014T= (n.409-1014T=) | |
| 1 | g.173911905A>C | CA343776525 | SERPINC1 | c.518T>G (p.Val173Gly) n.223T>G c.374T>G (p.Val125Gly) c.599T>G (p.Val200Gly) c.409-1014T>G (n.409-1014T>G) | |
| 1 | g.173911905A>G | CA32781294 | SERPINC1 | c.518T>C (p.Val173Ala) n.223T>C c.374T>C (p.Val125Ala) c.599T>C (p.Val200Ala) c.409-1014T>C (n.409-1014T>C) | dbSNP |
| 1 | g.173911905A>T | CA343776528 | SERPINC1 | c.518T>A (p.Val173Glu) n.223T>A c.374T>A (p.Val125Glu) c.599T>A (p.Val200Glu) c.409-1014T>A (n.409-1014T>A) | |
| 1 | g.173911906C>A | CA343776530 | SERPINC1 | c.517G>T (p.Val173Leu) n.222G>T c.373G>T (p.Val125Leu) c.598G>T (p.Val200Leu) c.409-1015G>T (n.409-1015G>T) | |
| 1 | g.173911906C>G | CA343776533 | SERPINC1 | c.517G>C (p.Val173Leu) n.222G>C c.373G>C (p.Val125Leu) c.598G>C (p.Val200Leu) c.409-1015G>C (n.409-1015G>C) | |
| 1 | g.173911906C>T | CA343776531 | SERPINC1 | c.517G>A (p.Val173Ile) n.222G>A c.373G>A (p.Val125Ile) c.598G>A (p.Val200Ile) c.409-1015G>A (n.409-1015G>A) | |
| 1 | g.173911907T>A | CA343776535 | SERPINC1 | c.516A>T (p.Leu172Phe) n.221A>T c.372A>T (p.Leu124Phe) c.597A>T (p.Leu199Phe) c.409-1016A>T (n.409-1016A>T) | |
| 1 | g.173911907T>C | CA32781296 | SERPINC1 | c.516A>G (p.Leu172=) n.221A>G c.372A>G (p.Leu124=) c.597A>G (p.Leu199=) c.409-1016A>G (n.409-1016A>G) | dbSNP |
| 1 | g.173911907T>G | CA343776537 | SERPINC1 | c.516A>C (p.Leu172Phe) n.221A>C c.372A>C (p.Leu124Phe) c.597A>C (p.Leu199Phe) c.409-1016A>C (n.409-1016A>C) | |
| 1 | g.173911907T= | CA1207937825 | SERPINC1 | c.516A= (p.Leu172=) n.221A= c.372A= (p.Leu124=) c.597A= (p.Leu199=) c.409-1016A= (n.409-1016A=) | |
| 1 | g.173911908A>C | CA343776538 | SERPINC1 | c.515T>G (p.Leu172Ter) n.220T>G c.371T>G (p.Leu124Ter) c.596T>G (p.Leu199Ter) c.409-1017T>G (n.409-1017T>G) | |
| 1 | g.173911908A>G | CA343776540 | SERPINC1 | c.515T>C (p.Leu172Ser) n.220T>C c.371T>C (p.Leu124Ser) c.596T>C (p.Leu199Ser) c.409-1017T>C (n.409-1017T>C) | |
| 1 | g.173911908A>T | CA343776542 | SERPINC1 | c.515T>A (p.Leu172Ter) n.220T>A c.371T>A (p.Leu124Ter) c.596T>A (p.Leu199Ter) c.409-1017T>A (n.409-1017T>A) | |
| 1 | g.173911909A>C | CA343776543 | SERPINC1 | c.514T>G (p.Leu172Val) n.219T>G c.370T>G (p.Leu124Val) c.595T>G (p.Leu199Val) c.409-1018T>G (n.409-1018T>G) | |
| 1 | g.173911909A>G | CA421823060 | SERPINC1 | c.514T>C (p.Leu172=) n.219T>C c.370T>C (p.Leu124=) c.595T>C (p.Leu199=) c.409-1018T>C (n.409-1018T>C) | |
| 1 | g.173911909A>T | CA343776544 | SERPINC1 | c.514T>A (p.Leu172Ile) n.219T>A c.370T>A (p.Leu124Ile) c.595T>A (p.Leu199Ile) c.409-1018T>A (n.409-1018T>A) | |
| 1 | g.173911910C>A | CA343776546 | SERPINC1 | c.513G>T (p.Lys171Asn) n.218G>T c.369G>T (p.Lys123Asn) c.594G>T (p.Lys198Asn) c.409-1019G>T (n.409-1019G>T) | |
| 1 | g.173911910C= | CA1207937826 | SERPINC1 | c.513G= (p.Lys171=) n.218G= c.369G= (p.Lys123=) c.594G= (p.Lys198=) c.409-1019G= (n.409-1019G=) | |
| 1 | g.173911910C>G | CA343776548 | SERPINC1 | c.513G>C (p.Lys171Asn) n.218G>C c.369G>C (p.Lys123Asn) c.594G>C (p.Lys198Asn) c.409-1019G>C (n.409-1019G>C) | dbSNP |
| 1 | g.173911910C>T | CA421823061 | SERPINC1 | c.513G>A (p.Lys171=) n.218G>A c.369G>A (p.Lys123=) c.594G>A (p.Lys198=) c.409-1019G>A (n.409-1019G>A) | |
| 1 | g.173911911T>A | CA343776550 | SERPINC1 | c.512A>T (p.Lys171Met) n.217A>T c.368A>T (p.Lys123Met) c.593A>T (p.Lys198Met) c.409-1020A>T (n.409-1020A>T) | |
| 1 | g.173911911T>C | CA343776551 | SERPINC1 | c.512A>G (p.Lys171Arg) n.217A>G c.368A>G (p.Lys123Arg) c.593A>G (p.Lys198Arg) c.409-1020A>G (n.409-1020A>G) | |
| 1 | g.173911911T>G | CA343776553 | SERPINC1 | c.512A>C (p.Lys171Thr) n.217A>C c.368A>C (p.Lys123Thr) c.593A>C (p.Lys198Thr) c.409-1020A>C (n.409-1020A>C) | |
| 1 | g.173911911_173911912del | CA2586964421 | SERPINC1 | c.511_512del (p.Lys171ValfsTer17) n.216_217del c.367_368del (p.Lys123ValfsTer17) c.592_593del (p.Lys198ValfsTer17) c.409-1021_409-1020del (n.409-1021_409-1020del) | |
| 1 | g.173911912T>A | CA343776555 | SERPINC1 | c.511A>T (p.Lys171Ter) n.216A>T c.367A>T (p.Lys123Ter) c.592A>T (p.Lys198Ter) c.409-1021A>T (n.409-1021A>T) | |
| 1 | g.173911912T>C | CA343776558 | SERPINC1 | c.511A>G (p.Lys171Glu) n.216A>G c.367A>G (p.Lys123Glu) c.592A>G (p.Lys198Glu) c.409-1021A>G (n.409-1021A>G) | dbSNP |
| 1 | g.173911912T>G | CA343776557 | SERPINC1 | c.511A>C (p.Lys171Gln) n.216A>C c.367A>C (p.Lys123Gln) c.592A>C (p.Lys198Gln) c.409-1021A>C (n.409-1021A>C) | dbSNP |
| 1 | g.173911912T= | CA1207937827 | SERPINC1 | c.511A= (p.Lys171=) n.216A= c.367A= (p.Lys123=) c.592A= (p.Lys198=) c.409-1021A= (n.409-1021A=) | |
| 1 | g.173911913G>A | CA421823063 | SERPINC1 | c.510C>T (p.Ser170=) n.215C>T c.366C>T (p.Ser122=) c.591C>T (p.Ser197=) c.409-1022C>T (n.409-1022C>T) | dbSNP |
| 1 | g.173911913G>C | CA421823066 | SERPINC1 | c.510C>G (p.Ser170=) n.215C>G c.366C>G (p.Ser122=) c.591C>G (p.Ser197=) c.409-1022C>G (n.409-1022C>G) | |
| 1 | g.173911913G= | CA1207937828 | SERPINC1 | c.510C= (p.Ser170=) n.215C= c.366C= (p.Ser122=) c.591C= (p.Ser197=) c.409-1022C= (n.409-1022C=) | |
| 1 | g.173911913G>T | CA421823064 | SERPINC1 | c.510C>A (p.Ser170=) n.215C>A c.366C>A (p.Ser122=) c.591C>A (p.Ser197=) c.409-1022C>A (n.409-1022C>A) | |
| 1 | g.173911914G>A | CA1251404 | SERPINC1 | c.509C>T (p.Ser170Phe) n.214C>T c.365C>T (p.Ser122Phe) c.590C>T (p.Ser197Phe) c.409-1023C>T (n.409-1023C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911914G>C | CA343776560 | SERPINC1 | c.509C>G (p.Ser170Cys) n.214C>G c.365C>G (p.Ser122Cys) c.590C>G (p.Ser197Cys) c.409-1023C>G (n.409-1023C>G) | |
| 1 | g.173911914G= | CA1207937829 | SERPINC1 | c.509C= (p.Ser170=) n.214C= c.365C= (p.Ser122=) c.590C= (p.Ser197=) c.409-1023C= (n.409-1023C=) | |
| 1 | g.173911914G>T | CA343776562 | SERPINC1 | c.509C>A (p.Ser170Tyr) n.214C>A c.365C>A (p.Ser122Tyr) c.590C>A (p.Ser197Tyr) c.409-1023C>A (n.409-1023C>A) | |
| 1 | g.173911915A= | CA1207937830 | SERPINC1 | c.508T= (p.Ser170=) n.213T= c.364T= (p.Ser122=) c.589T= (p.Ser197=) c.409-1024T= (n.409-1024T=) | |
| 1 | g.173911915A>C | CA343776563 | SERPINC1 | c.508T>G (p.Ser170Ala) n.213T>G c.364T>G (p.Ser122Ala) c.589T>G (p.Ser197Ala) c.409-1024T>G (n.409-1024T>G) | |
| 1 | g.173911915A>G | CA343776565 | SERPINC1 | c.508T>C (p.Ser170Pro) n.213T>C c.364T>C (p.Ser122Pro) c.589T>C (p.Ser197Pro) c.409-1024T>C (n.409-1024T>C) | dbSNP gnomAD v4 COSMIC |
| 1 | g.173911915A>T | CA343776567 | SERPINC1 | c.508T>A (p.Ser170Thr) n.213T>A c.364T>A (p.Ser122Thr) c.589T>A (p.Ser197Thr) c.409-1024T>A (n.409-1024T>A) | |
| 1 | g.173911916G>A | CA421823069 | SERPINC1 | c.507C>T (p.Ser169=) n.212C>T c.363C>T (p.Ser121=) c.588C>T (p.Ser196=) c.409-1025C>T (n.409-1025C>T) | |
| 1 | g.173911916G>C | CA421823070 | SERPINC1 | c.507C>G (p.Ser169=) n.212C>G c.363C>G (p.Ser121=) c.588C>G (p.Ser196=) c.409-1025C>G (n.409-1025C>G) | |
| 1 | g.173911916G>T | CA421823071 | SERPINC1 | c.507C>A (p.Ser169=) n.212C>A c.363C>A (p.Ser121=) c.588C>A (p.Ser196=) c.409-1025C>A (n.409-1025C>A) | |
| 1 | g.173911917G>A | CA150687 | SERPINC1 | c.506C>T (p.Ser169Phe) n.211C>T c.362C>T (p.Ser121Phe) c.587C>T (p.Ser196Phe) c.409-1026C>T (n.409-1026C>T) | ClinVar dbSNP |
| 1 | g.173911917G>C | CA343776568 | SERPINC1 | c.506C>G (p.Ser169Cys) n.211C>G c.362C>G (p.Ser121Cys) c.587C>G (p.Ser196Cys) c.409-1026C>G (n.409-1026C>G) | |
| 1 | g.173911917G= | CA1144233212 | SERPINC1 | c.506C= (p.Ser169=) n.211C= c.362C= (p.Ser121=) c.587C= (p.Ser196=) c.409-1026C= (n.409-1026C=) | |
| 1 | g.173911917G>T | CA343776570 | SERPINC1 | c.506C>A (p.Ser169Tyr) n.211C>A c.362C>A (p.Ser121Tyr) c.587C>A (p.Ser196Tyr) c.409-1026C>A (n.409-1026C>A) | |
| 1 | g.173911918A= | CA1207937831 | SERPINC1 | c.505T= (p.Ser169=) n.210T= c.361T= (p.Ser121=) c.586T= (p.Ser196=) c.409-1027T= (n.409-1027T=) | |
| 1 | g.173911918A>C | CA343776573 | SERPINC1 | c.505T>G (p.Ser169Ala) n.210T>G c.361T>G (p.Ser121Ala) c.586T>G (p.Ser196Ala) c.409-1027T>G (n.409-1027T>G) | |
| 1 | g.173911918A>G | CA343776575 | SERPINC1 | c.505T>C (p.Ser169Pro) n.210T>C c.361T>C (p.Ser121Pro) c.586T>C (p.Ser196Pro) c.409-1027T>C (n.409-1027T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911918A>T | CA343776576 | SERPINC1 | c.505T>A (p.Ser169Thr) n.210T>A c.361T>A (p.Ser121Thr) c.586T>A (p.Ser196Thr) c.409-1027T>A (n.409-1027T>A) | |
| 1 | g.173911919T>A | CA343776577 | SERPINC1 | c.504A>T (p.Lys168Asn) n.209A>T c.360A>T (p.Lys120Asn) c.585A>T (p.Lys195Asn) c.409-1028A>T (n.409-1028A>T) | |
| 1 | g.173911919T>C | CA421823078 | SERPINC1 | c.504A>G (p.Lys168=) n.209A>G c.360A>G (p.Lys120=) c.585A>G (p.Lys195=) c.409-1028A>G (n.409-1028A>G) | dbSNP |
| 1 | g.173911919T>G | CA343776578 | SERPINC1 | c.504A>C (p.Lys168Asn) n.209A>C c.360A>C (p.Lys120Asn) c.585A>C (p.Lys195Asn) c.409-1028A>C (n.409-1028A>C) | |
| 1 | g.173911919T= | CA1207937832 | SERPINC1 | c.504A= (p.Lys168=) n.209A= c.360A= (p.Lys120=) c.585A= (p.Lys195=) c.409-1028A= (n.409-1028A=) | |
| 1 | g.173911921del | CA2586964422 | SERPINC1 | c.504del (p.Lys168AsnfsTer5) n.209del c.360del (p.Lys120AsnfsTer5) c.585del (p.Lys195AsnfsTer5) c.409-1028del (n.409-1028del) | |
| 1 | g.173911920T>A | CA343776581 | SERPINC1 | c.503A>T (p.Lys168Ile) n.208A>T c.359A>T (p.Lys120Ile) c.584A>T (p.Lys195Ile) c.409-1029A>T (n.409-1029A>T) | |
| 1 | g.173911920T>C | CA343776584 | SERPINC1 | c.503A>G (p.Lys168Arg) n.208A>G c.359A>G (p.Lys120Arg) c.584A>G (p.Lys195Arg) c.409-1029A>G (n.409-1029A>G) | |
| 1 | g.173911920T>G | CA343776583 | SERPINC1 | c.503A>C (p.Lys168Thr) n.208A>C c.359A>C (p.Lys120Thr) c.584A>C (p.Lys195Thr) c.409-1029A>C (n.409-1029A>C) | |
| 1 | g.173911921T>A | CA343776586 | SERPINC1 | c.502A>T (p.Lys168Ter) n.207A>T c.358A>T (p.Lys120Ter) c.583A>T (p.Lys195Ter) c.409-1030A>T (n.409-1030A>T) | |
| 1 | g.173911921T>C | CA343776588 | SERPINC1 | c.502A>G (p.Lys168Glu) n.207A>G c.358A>G (p.Lys120Glu) c.583A>G (p.Lys195Glu) c.409-1030A>G (n.409-1030A>G) | |
| 1 | g.173911921T>G | CA343776589 | SERPINC1 | c.502A>C (p.Lys168Gln) n.207A>C c.358A>C (p.Lys120Gln) c.583A>C (p.Lys195Gln) c.409-1030A>C (n.409-1030A>C) | |
| 1 | g.173911921T= | CA1207937833 | SERPINC1 | c.502A= (p.Lys168=) n.207A= c.358A= (p.Lys120=) c.583A= (p.Lys195=) c.409-1030A= (n.409-1030A=) | |
| 1 | g.173911922G>A | CA421823080 | SERPINC1 | c.501C>T (p.Asn167=) n.206C>T c.357C>T (p.Asn119=) c.582C>T (p.Asn194=) c.409-1031C>T (n.409-1031C>T) | dbSNP |
| 1 | g.173911922G>C | CA343776591 | SERPINC1 | c.501C>G (p.Asn167Lys) n.206C>G c.357C>G (p.Asn119Lys) c.582C>G (p.Asn194Lys) c.409-1031C>G (n.409-1031C>G) | |
| 1 | g.173911922G= | CA1207937834 | SERPINC1 | c.501C= (p.Asn167=) n.206C= c.357C= (p.Asn119=) c.582C= (p.Asn194=) c.409-1031C= (n.409-1031C=) | |
| 1 | g.173911922G>T | CA343776593 | SERPINC1 | c.501C>A (p.Asn167Lys) n.206C>A c.357C>A (p.Asn119Lys) c.582C>A (p.Asn194Lys) c.409-1031C>A (n.409-1031C>A) | |
| 1 | g.173911922dup | CA891314866 | SERPINC1 | c.501dup (p.Lys168GlnfsTer21) n.206dup c.357dup (p.Lys120GlnfsTer21) c.582dup (p.Lys195GlnfsTer21) c.409-1031dup (n.409-1031dup) | dbSNP |
| 1 | g.173911923T>A | CA343776594 | SERPINC1 | c.500A>T (p.Asn167Ile) n.205A>T c.356A>T (p.Asn119Ile) c.581A>T (p.Asn194Ile) c.409-1032A>T (n.409-1032A>T) | |
| 1 | g.173911923T>C | CA343776596 | SERPINC1 | c.500A>G (p.Asn167Ser) n.205A>G c.356A>G (p.Asn119Ser) c.581A>G (p.Asn194Ser) c.409-1032A>G (n.409-1032A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911923T>G | CA210795 | SERPINC1 | c.500A>C (p.Asn167Thr) n.205A>C c.356A>C (p.Asn119Thr) c.581A>C (p.Asn194Thr) c.409-1032A>C (n.409-1032A>C) | ClinVar dbSNP |
| 1 | g.173911923T= | CA1141581222 | SERPINC1 | c.500A= (p.Asn167=) n.205A= c.356A= (p.Asn119=) c.581A= (p.Asn194=) c.409-1032A= (n.409-1032A=) | |
| 1 | g.173911924T>A | CA343776599 | SERPINC1 | c.499A>T (p.Asn167Tyr) n.204A>T c.355A>T (p.Asn119Tyr) c.580A>T (p.Asn194Tyr) c.409-1033A>T (n.409-1033A>T) | |
| 1 | g.173911924T>C | CA343776601 | SERPINC1 | c.499A>G (p.Asn167Asp) n.204A>G c.355A>G (p.Asn119Asp) c.580A>G (p.Asn194Asp) c.409-1033A>G (n.409-1033A>G) | |
| 1 | g.173911924T>G | CA343776603 | SERPINC1 | c.499A>C (p.Asn167His) n.204A>C c.355A>C (p.Asn119His) c.580A>C (p.Asn194His) c.409-1033A>C (n.409-1033A>C) | |
| 1 | g.173911925G>A | CA421823088 | SERPINC1 | c.498C>T (p.Ala166=) n.203C>T c.354C>T (p.Ala118=) c.579C>T (p.Ala193=) c.409-1034C>T (n.409-1034C>T) | |
| 1 | g.173911925G>C | CA421823089 | SERPINC1 | c.498C>G (p.Ala166=) n.203C>G c.354C>G (p.Ala118=) c.579C>G (p.Ala193=) c.409-1034C>G (n.409-1034C>G) | |
| 1 | g.173911925G>T | CA421823090 | SERPINC1 | c.498C>A (p.Ala166=) n.203C>A c.354C>A (p.Ala118=) c.579C>A (p.Ala193=) c.409-1034C>A (n.409-1034C>A) | COSMIC |
| 1 | g.173911926G>A | CA343776606 | SERPINC1 | c.497C>T (p.Ala166Val) n.202C>T c.353C>T (p.Ala118Val) c.578C>T (p.Ala193Val) c.409-1035C>T (n.409-1035C>T) | |
| 1 | g.173911926G>C | CA343776608 | SERPINC1 | c.497C>G (p.Ala166Gly) n.202C>G c.353C>G (p.Ala118Gly) c.578C>G (p.Ala193Gly) c.409-1035C>G (n.409-1035C>G) | |
| 1 | g.173911926G>T | CA343776605 | SERPINC1 | c.497C>A (p.Ala166Asp) n.202C>A c.353C>A (p.Ala118Asp) c.578C>A (p.Ala193Asp) c.409-1035C>A (n.409-1035C>A) | |
| 1 | g.173911927C>A | CA343776610 | SERPINC1 | c.496G>T (p.Ala166Ser) n.201G>T c.352G>T (p.Ala118Ser) c.577G>T (p.Ala193Ser) c.409-1036G>T (n.409-1036G>T) | |
| 1 | g.173911927C>G | CA343776613 | SERPINC1 | c.496G>C (p.Ala166Pro) n.201G>C c.352G>C (p.Ala118Pro) c.577G>C (p.Ala193Pro) c.409-1036G>C (n.409-1036G>C) | |
| 1 | g.173911927C>T | CA343776612 | SERPINC1 | c.496G>A (p.Ala166Thr) n.201G>A c.352G>A (p.Ala118Thr) c.577G>A (p.Ala193Thr) c.409-1036G>A (n.409-1036G>A) | |
| 1 | g.173911928T>A | CA343776615 | SERPINC1 | c.495A>T (p.Lys165Asn) n.200A>T c.351A>T (p.Lys117Asn) c.576A>T (p.Lys192Asn) c.409-1037A>T (n.409-1037A>T) | |
| 1 | g.173911928T>C | CA421823096 | SERPINC1 | c.495A>G (p.Lys165=) n.200A>G c.351A>G (p.Lys117=) c.576A>G (p.Lys192=) c.409-1037A>G (n.409-1037A>G) | |
| 1 | g.173911928T>G | CA343776616 | SERPINC1 | c.495A>C (p.Lys165Asn) n.200A>C c.351A>C (p.Lys117Asn) c.576A>C (p.Lys192Asn) c.409-1037A>C (n.409-1037A>C) | |
| 1 | g.173911931del | CA2580650881 | SERPINC1 | c.495del (p.Ala166ProfsTer7) n.200del c.351del (p.Ala118ProfsTer7) c.576del (p.Ala193ProfsTer7) c.409-1037del (n.409-1037del) | |
| 1 | g.173911929T>A | CA343776619 | SERPINC1 | c.494A>T (p.Lys165Ile) n.199A>T c.350A>T (p.Lys117Ile) c.575A>T (p.Lys192Ile) c.409-1038A>T (n.409-1038A>T) | |
| 1 | g.173911929T>C | CA343776621 | SERPINC1 | c.494A>G (p.Lys165Arg) n.199A>G c.350A>G (p.Lys117Arg) c.575A>G (p.Lys192Arg) c.409-1038A>G (n.409-1038A>G) | |
| 1 | g.173911929T>G | CA343776620 | SERPINC1 | c.494A>C (p.Lys165Thr) n.199A>C c.350A>C (p.Lys117Thr) c.575A>C (p.Lys192Thr) c.409-1038A>C (n.409-1038A>C) | |
| 1 | g.173911930T>A | CA343776623 | SERPINC1 | c.493A>T (p.Lys165Ter) n.198A>T c.349A>T (p.Lys117Ter) c.574A>T (p.Lys192Ter) c.409-1039A>T (n.409-1039A>T) | |
| 1 | g.173911930T>C | CA343776625 | SERPINC1 | c.493A>G (p.Lys165Glu) n.198A>G c.349A>G (p.Lys117Glu) c.574A>G (p.Lys192Glu) c.409-1039A>G (n.409-1039A>G) | |
| 1 | g.173911930T>G | CA343776626 | SERPINC1 | c.493A>C (p.Lys165Gln) n.198A>C c.349A>C (p.Lys117Gln) c.574A>C (p.Lys192Gln) c.409-1039A>C (n.409-1039A>C) | |
| 1 | g.173911931T>A | CA421823098 | SERPINC1 | c.492A>T (p.Arg164=) n.197A>T c.348A>T (p.Arg116=) c.573A>T (p.Arg191=) c.409-1040A>T (n.409-1040A>T) | |
| 1 | g.173911931T>C | CA421823099 | SERPINC1 | c.492A>G (p.Arg164=) n.197A>G c.348A>G (p.Arg116=) c.573A>G (p.Arg191=) c.409-1040A>G (n.409-1040A>G) | |
| 1 | g.173911931T>G | CA421823100 | SERPINC1 | c.492A>C (p.Arg164=) n.197A>C c.348A>C (p.Arg116=) c.573A>C (p.Arg191=) c.409-1040A>C (n.409-1040A>C) | |
| 1 | g.173911932C>A | CA343776628 | SERPINC1 | c.491G>T (p.Arg164Leu) n.196G>T c.347G>T (p.Arg116Leu) c.572G>T (p.Arg191Leu) c.409-1041G>T (n.409-1041G>T) | |
| 1 | g.173911932C= | CA1144233213 | SERPINC1 | c.491G= (p.Arg164=) n.196G= c.347G= (p.Arg116=) c.572G= (p.Arg191=) c.409-1041G= (n.409-1041G=) | |
| 1 | g.173911932C>G | CA343776629 | SERPINC1 | c.491G>C (p.Arg164Pro) n.196G>C c.347G>C (p.Arg116Pro) c.572G>C (p.Arg191Pro) c.409-1041G>C (n.409-1041G>C) | |
| 1 | g.173911932C>T | CA150684 | SERPINC1 | c.491G>A (p.Arg164Gln) n.196G>A c.347G>A (p.Arg116Gln) c.572G>A (p.Arg191Gln) c.409-1041G>A (n.409-1041G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173911933del | CA2586964423 | SERPINC1 | c.490del (p.Arg164GlufsTer9) n.195del c.346del (p.Arg116GlufsTer9) c.571del (p.Arg191GlufsTer9) c.409-1042del (n.409-1042del) | |
| 1 | g.173911933G>A | CA32781302 | SERPINC1 | c.490C>T (p.Arg164Ter) n.195C>T c.346C>T (p.Arg116Ter) c.571C>T (p.Arg191Ter) c.409-1042C>T (n.409-1042C>T) | ClinVar dbSNP |
| 1 | g.173911933G>C | CA343776632 | SERPINC1 | c.490C>G (p.Arg164Gly) n.195C>G c.346C>G (p.Arg116Gly) c.571C>G (p.Arg191Gly) c.409-1042C>G (n.409-1042C>G) | |
| 1 | g.173911933G= | CA1143355584 | SERPINC1 | c.490C= (p.Arg164=) n.195C= c.346C= (p.Arg116=) c.571C= (p.Arg191=) c.409-1042C= (n.409-1042C=) | |
| 1 | g.173911933G>T | CA1251405 | SERPINC1 | c.490C>A (p.Arg164=) n.195C>A c.346C>A (p.Arg116=) c.571C>A (p.Arg191=) c.409-1042C>A (n.409-1042C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911934A>C | CA343776636 | SERPINC1 | c.489T>G (p.Tyr163Ter) n.194T>G c.345T>G (p.Tyr115Ter) c.570T>G (p.Tyr190Ter) c.409-1043T>G (n.409-1043T>G) | |
| 1 | g.173911934A>G | CA421823106 | SERPINC1 | c.489T>C (p.Tyr163=) n.194T>C c.345T>C (p.Tyr115=) c.570T>C (p.Tyr190=) c.409-1043T>C (n.409-1043T>C) | |
| 1 | g.173911934A>T | CA343776637 | SERPINC1 | c.489T>A (p.Tyr163Ter) n.194T>A c.345T>A (p.Tyr115Ter) c.570T>A (p.Tyr190Ter) c.409-1043T>A (n.409-1043T>A) | |
| 1 | g.173911935T>A | CA343776641 | SERPINC1 | c.488A>T (p.Tyr163Phe) n.193A>T c.344A>T (p.Tyr115Phe) c.569A>T (p.Tyr190Phe) c.409-1044A>T (n.409-1044A>T) | |
| 1 | g.173911935T>C | CA343776639 | SERPINC1 | c.488A>G (p.Tyr163Cys) n.193A>G c.344A>G (p.Tyr115Cys) c.569A>G (p.Tyr190Cys) c.409-1044A>G (n.409-1044A>G) | |
| 1 | g.173911935T>G | CA343776640 | SERPINC1 | c.488A>C (p.Tyr163Ser) n.193A>C c.344A>C (p.Tyr115Ser) c.569A>C (p.Tyr190Ser) c.409-1044A>C (n.409-1044A>C) | |
| 1 | g.173911935_173911937delinsTAG | CA1207937835 | SERPINC1 | c.486_488delinsCTA (p.Leu162=) n.191_193delinsCTA c.342_344delinsCTA (p.Leu114=) c.567_569delinsCTA (p.Leu189=) c.409-1046_409-1044delinsCTA (n.409-1046_409-1044delinsCTA) | |
| 1 | g.173911936A>C | CA343776643 | SERPINC1 | c.487T>G (p.Tyr163Asp) n.192T>G c.343T>G (p.Tyr115Asp) c.568T>G (p.Tyr190Asp) c.409-1045T>G (n.409-1045T>G) | |
| 1 | g.173911936A>G | CA343776645 | SERPINC1 | c.487T>C (p.Tyr163His) n.192T>C c.343T>C (p.Tyr115His) c.568T>C (p.Tyr190His) c.409-1045T>C (n.409-1045T>C) | |
| 1 | g.173911936A>T | CA343776647 | SERPINC1 | c.487T>A (p.Tyr163Asn) n.192T>A c.343T>A (p.Tyr115Asn) c.568T>A (p.Tyr190Asn) c.409-1045T>A (n.409-1045T>A) | |
| 1 | g.173911936_173911939delinsAGAG | CA1144233214 | SERPINC1 | c.484_487delinsCTCT (p.Leu162=) n.189_192delinsCTCT c.340_343delinsCTCT (p.Leu114=) c.565_568delinsCTCT (p.Leu189=) c.409-1048_409-1045delinsCTCT (n.409-1048_409-1045delinsCTCT) | |
| 1 | g.173911938_173911939del | CA150683 | SERPINC1 | c.486_487del (p.Tyr163SerfsTer25) n.191_192del c.342_343del (p.Tyr115SerfsTer25) c.567_568del (p.Tyr190SerfsTer25) c.409-1046_409-1045del (n.409-1046_409-1045del) | ClinVar dbSNP COSMIC |
| 1 | g.173911937G>A | CA421823112 | SERPINC1 | c.486C>T (p.Leu162=) n.191C>T c.342C>T (p.Leu114=) c.567C>T (p.Leu189=) c.409-1046C>T (n.409-1046C>T) | COSMIC |
| 1 | g.173911937G>C | CA421823113 | SERPINC1 | c.486C>G (p.Leu162=) n.191C>G c.342C>G (p.Leu114=) c.567C>G (p.Leu189=) c.409-1046C>G (n.409-1046C>G) | |
| 1 | g.173911937G>T | CA421823114 | SERPINC1 | c.486C>A (p.Leu162=) n.191C>A c.342C>A (p.Leu114=) c.567C>A (p.Leu189=) c.409-1046C>A (n.409-1046C>A) | |
| 1 | g.173911938A= | CA1207937836 | SERPINC1 | c.485T= (p.Leu162=) n.190T= c.341T= (p.Leu114=) c.566T= (p.Leu189=) c.409-1047T= (n.409-1047T=) | |
| 1 | g.173911938A>C | CA343776649 | SERPINC1 | c.485T>G (p.Leu162Arg) n.190T>G c.341T>G (p.Leu114Arg) c.566T>G (p.Leu189Arg) c.409-1047T>G (n.409-1047T>G) | |
| 1 | g.173911938A>G | CA343776650 | SERPINC1 | c.485T>C (p.Leu162Pro) n.190T>C c.341T>C (p.Leu114Pro) c.566T>C (p.Leu189Pro) c.409-1047T>C (n.409-1047T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173911938A>T | CA343776651 | SERPINC1 | c.485T>A (p.Leu162His) n.190T>A c.341T>A (p.Leu114His) c.566T>A (p.Leu189His) c.409-1047T>A (n.409-1047T>A) | |
| 1 | g.173911939G>A | CA343776654 | SERPINC1 | c.484C>T (p.Leu162Phe) n.189C>T c.340C>T (p.Leu114Phe) c.565C>T (p.Leu189Phe) c.409-1048C>T (n.409-1048C>T) | gnomAD v4 |
| 1 | g.173911939G>C | CA343776655 | SERPINC1 | c.484C>G (p.Leu162Val) n.189C>G c.340C>G (p.Leu114Val) c.565C>G (p.Leu189Val) c.409-1048C>G (n.409-1048C>G) | |
| 1 | g.173911939G>T | CA343776657 | SERPINC1 | c.484C>A (p.Leu162Ile) n.189C>A c.340C>A (p.Leu114Ile) c.565C>A (p.Leu189Ile) c.409-1048C>A (n.409-1048C>A) | |
| 1 | g.173911939_173911940insCTC | CA2586964424 | SERPINC1 | c.483_484insGAG (p.Arg161_Leu162insGlu) n.188_189insGAG c.339_340insGAG (p.Arg113_Leu114insGlu) c.564_565insGAG (p.Arg188_Leu189insGlu) c.409-1049_409-1048insGAG (n.409-1049_409-1048insGAG) | |
| 1 | g.173911940T>A | CA421823119 | SERPINC1 | c.483A>T (p.Arg161=) n.188A>T c.339A>T (p.Arg113=) c.564A>T (p.Arg188=) c.409-1049A>T (n.409-1049A>T) | |
| 1 | g.173911940T>C | CA421823122 | SERPINC1 | c.483A>G (p.Arg161=) n.188A>G c.339A>G (p.Arg113=) c.564A>G (p.Arg188=) c.409-1049A>G (n.409-1049A>G) | |
| 1 | g.173911940T>G | CA421823123 | SERPINC1 | c.483A>C (p.Arg161=) n.188A>C c.339A>C (p.Arg113=) c.564A>C (p.Arg188=) c.409-1049A>C (n.409-1049A>C) | |
| 1 | g.173911941C>A | CA1251406 | SERPINC1 | c.482G>T (p.Arg161Leu) n.187G>T c.338G>T (p.Arg113Leu) c.563G>T (p.Arg188Leu) c.409-1050G>T (n.409-1050G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911941C= | CA1141581223 | SERPINC1 | c.482G= (p.Arg161=) n.187G= c.338G= (p.Arg113=) c.563G= (p.Arg188=) c.409-1050G= (n.409-1050G=) | |
| 1 | g.173911941C>G | CA343776659 | SERPINC1 | c.482G>C (p.Arg161Pro) n.187G>C c.338G>C (p.Arg113Pro) c.563G>C (p.Arg188Pro) c.409-1050G>C (n.409-1050G>C) | |
| 1 | g.173911941C>T | CA210779 | SERPINC1 | c.482G>A (p.Arg161Gln) n.187G>A c.338G>A (p.Arg113Gln) c.563G>A (p.Arg188Gln) c.409-1050G>A (n.409-1050G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173911942G>A | CA210776 | SERPINC1 | c.481C>T (p.Arg161Ter) n.186C>T c.337C>T (p.Arg113Ter) c.562C>T (p.Arg188Ter) c.409-1051C>T (n.409-1051C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173911942G>C | CA343776662 | SERPINC1 | c.481C>G (p.Arg161Gly) n.186C>G c.337C>G (p.Arg113Gly) c.562C>G (p.Arg188Gly) c.409-1051C>G (n.409-1051C>G) | |
| 1 | g.173911942G= | CA1141581225 | SERPINC1 | c.481C= (p.Arg161=) n.186C= c.337C= (p.Arg113=) c.562C= (p.Arg188=) c.409-1051C= (n.409-1051C=) | |
| 1 | g.173911942G>T | CA421823124 | SERPINC1 | c.481C>A (p.Arg161=) n.186C>A c.337C>A (p.Arg113=) c.562C>A (p.Arg188=) c.409-1051C>A (n.409-1051C>A) | |
| 1 | g.173911943G>A | CA1251407 | SERPINC1 | c.480C>T (p.Cys160=) n.185C>T c.336C>T (p.Cys112=) c.561C>T (p.Cys187=) c.409-1052C>T (n.409-1052C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911943G>C | CA343776664 | SERPINC1 | c.480C>G (p.Cys160Trp) n.185C>G c.336C>G (p.Cys112Trp) c.561C>G (p.Cys187Trp) c.409-1052C>G (n.409-1052C>G) | |
| 1 | g.173911943G= | CA1207937837 | SERPINC1 | c.480C= (p.Cys160=) n.185C= c.336C= (p.Cys112=) c.561C= (p.Cys187=) c.409-1052C= (n.409-1052C=) | |
| 1 | g.173911943G>T | CA343776666 | SERPINC1 | c.480C>A (p.Cys160Ter) n.185C>A c.336C>A (p.Cys112Ter) c.561C>A (p.Cys187Ter) c.409-1052C>A (n.409-1052C>A) | |
| 1 | g.173911944C>A | CA343776668 | SERPINC1 | c.479G>T (p.Cys160Phe) n.184G>T c.335G>T (p.Cys112Phe) c.560G>T (p.Cys187Phe) c.409-1053G>T (n.409-1053G>T) | |
| 1 | g.173911944C>G | CA343776669 | SERPINC1 | c.479G>C (p.Cys160Ser) n.184G>C c.335G>C (p.Cys112Ser) c.560G>C (p.Cys187Ser) c.409-1053G>C (n.409-1053G>C) | |
| 1 | g.173911944C>T | CA343776671 | SERPINC1 | c.479G>A (p.Cys160Tyr) n.184G>A c.335G>A (p.Cys112Tyr) c.560G>A (p.Cys187Tyr) c.409-1053G>A (n.409-1053G>A) | |
| 1 | g.173911949_173911953del | CA2586964425 | SERPINC1 | c.475_479del (p.Asn159ProfsTer28) n.180_184del c.331_335del (p.Asn111ProfsTer28) c.556_560del (p.Asn186ProfsTer28) c.409-1057_409-1053del (n.409-1057_409-1053del) | |
| 1 | g.173911945A>C | CA343776673 | SERPINC1 | c.478T>G (p.Cys160Gly) n.183T>G c.334T>G (p.Cys112Gly) c.559T>G (p.Cys187Gly) c.409-1054T>G (n.409-1054T>G) | |
| 1 | g.173911945A>G | CA343776674 | SERPINC1 | c.478T>C (p.Cys160Arg) n.183T>C c.334T>C (p.Cys112Arg) c.559T>C (p.Cys187Arg) c.409-1054T>C (n.409-1054T>C) | |
| 1 | g.173911945A>T | CA343776676 | SERPINC1 | c.478T>A (p.Cys160Ser) n.183T>A c.334T>A (p.Cys112Ser) c.559T>A (p.Cys187Ser) c.409-1054T>A (n.409-1054T>A) | |
| 1 | g.173911946G>A | CA421823126 | SERPINC1 | c.477C>T (p.Asn159=) n.182C>T c.333C>T (p.Asn111=) c.558C>T (p.Asn186=) c.409-1055C>T (n.409-1055C>T) | |
| 1 | g.173911946G>C | CA343776677 | SERPINC1 | c.477C>G (p.Asn159Lys) n.182C>G c.333C>G (p.Asn111Lys) c.558C>G (p.Asn186Lys) c.409-1055C>G (n.409-1055C>G) | |
| 1 | g.173911946G>T | CA343776679 | SERPINC1 | c.477C>A (p.Asn159Lys) n.182C>A c.333C>A (p.Asn111Lys) c.558C>A (p.Asn186Lys) c.409-1055C>A (n.409-1055C>A) | |
| 1 | g.173911947T>A | CA343776681 | SERPINC1 | c.476A>T (p.Asn159Ile) n.181A>T c.332A>T (p.Asn111Ile) c.557A>T (p.Asn186Ile) c.409-1056A>T (n.409-1056A>T) | |
| 1 | g.173911947T>C | CA343776684 | SERPINC1 | c.476A>G (p.Asn159Ser) n.181A>G c.332A>G (p.Asn111Ser) c.557A>G (p.Asn186Ser) c.409-1056A>G (n.409-1056A>G) | |
| 1 | g.173911947T>G | CA343776682 | SERPINC1 | c.476A>C (p.Asn159Thr) n.181A>C c.332A>C (p.Asn111Thr) c.557A>C (p.Asn186Thr) c.409-1056A>C (n.409-1056A>C) | |
| 1 | g.173911948T>A | CA343776686 | SERPINC1 | c.475A>T (p.Asn159Tyr) n.180A>T c.331A>T (p.Asn111Tyr) c.556A>T (p.Asn186Tyr) c.409-1057A>T (n.409-1057A>T) | |
| 1 | g.173911948T>C | CA343776688 | SERPINC1 | c.475A>G (p.Asn159Asp) n.180A>G c.331A>G (p.Asn111Asp) c.556A>G (p.Asn186Asp) c.409-1057A>G (n.409-1057A>G) | |
| 1 | g.173911948T>G | CA343776689 | SERPINC1 | c.475A>C (p.Asn159His) n.180A>C c.331A>C (p.Asn111His) c.556A>C (p.Asn186His) c.409-1057A>C (n.409-1057A>C) | |
| 1 | g.173911949C>A | CA421823134 | SERPINC1 | c.474G>T (p.Leu158=) n.179G>T c.330G>T (p.Leu110=) c.555G>T (p.Leu185=) c.409-1058G>T (n.409-1058G>T) | |
| 1 | g.173911949C>G | CA421823132 | SERPINC1 | c.474G>C (p.Leu158=) n.179G>C c.330G>C (p.Leu110=) c.555G>C (p.Leu185=) c.409-1058G>C (n.409-1058G>C) | |
| 1 | g.173911949C>T | CA421823131 | SERPINC1 | c.474G>A (p.Leu158=) n.179G>A c.330G>A (p.Leu110=) c.555G>A (p.Leu185=) c.409-1058G>A (n.409-1058G>A) | |
| 1 | g.173911950A>C | CA343776692 | SERPINC1 | c.473T>G (p.Leu158Arg) n.178T>G c.329T>G (p.Leu110Arg) c.554T>G (p.Leu185Arg) c.409-1059T>G (n.409-1059T>G) | |
| 1 | g.173911950A>G | CA343776693 | SERPINC1 | c.473T>C (p.Leu158Pro) n.178T>C c.329T>C (p.Leu110Pro) c.554T>C (p.Leu185Pro) c.409-1059T>C (n.409-1059T>C) | ClinVar dbSNP |
| 1 | g.173911950A>T | CA343776695 | SERPINC1 | c.473T>A (p.Leu158Gln) n.178T>A c.329T>A (p.Leu110Gln) c.554T>A (p.Leu185Gln) c.409-1059T>A (n.409-1059T>A) | |
| 1 | g.173911951G>A | CA421823138 | SERPINC1 | c.472C>T (p.Leu158=) n.177C>T c.328C>T (p.Leu110=) c.553C>T (p.Leu185=) c.409-1060C>T (n.409-1060C>T) | |
| 1 | g.173911951G>C | CA343776697 | SERPINC1 | c.472C>G (p.Leu158Val) n.177C>G c.328C>G (p.Leu110Val) c.553C>G (p.Leu185Val) c.409-1060C>G (n.409-1060C>G) | |
| 1 | g.173911951G>T | CA343776698 | SERPINC1 | c.472C>A (p.Leu158Met) n.177C>A c.328C>A (p.Leu110Met) c.553C>A (p.Leu185Met) c.409-1060C>A (n.409-1060C>A) | gnomAD v4 |
| 1 | g.173911952T>A | CA343776700 | SERPINC1 | c.471A>T (p.Lys157Asn) n.176A>T c.327A>T (p.Lys109Asn) c.552A>T (p.Lys184Asn) c.409-1061A>T (n.409-1061A>T) | |
| 1 | g.173911952T>C | CA421823142 | SERPINC1 | c.471A>G (p.Lys157=) n.176A>G c.327A>G (p.Lys109=) c.552A>G (p.Lys184=) c.409-1061A>G (n.409-1061A>G) | |
| 1 | g.173911952T>G | CA343776701 | SERPINC1 | c.471A>C (p.Lys157Asn) n.176A>C c.327A>C (p.Lys109Asn) c.552A>C (p.Lys184Asn) c.409-1061A>C (n.409-1061A>C) | |
| 1 | g.173911953T>A | CA343776705 | SERPINC1 | c.470A>T (p.Lys157Ile) n.175A>T c.326A>T (p.Lys109Ile) c.551A>T (p.Lys184Ile) c.409-1062A>T (n.409-1062A>T) | |
| 1 | g.173911953T>C | CA343776707 | SERPINC1 | c.470A>G (p.Lys157Arg) n.175A>G c.326A>G (p.Lys109Arg) c.551A>G (p.Lys184Arg) c.409-1062A>G (n.409-1062A>G) | |
| 1 | g.173911953T>G | CA343776703 | SERPINC1 | c.470A>C (p.Lys157Thr) n.175A>C c.326A>C (p.Lys109Thr) c.551A>C (p.Lys184Thr) c.409-1062A>C (n.409-1062A>C) | |
| 1 | g.173911954T>A | CA343776709 | SERPINC1 | c.469A>T (p.Lys157Ter) n.174A>T c.325A>T (p.Lys109Ter) c.550A>T (p.Lys184Ter) c.409-1063A>T (n.409-1063A>T) | |
| 1 | g.173911954T>C | CA343776711 | SERPINC1 | c.469A>G (p.Lys157Glu) n.174A>G c.325A>G (p.Lys109Glu) c.550A>G (p.Lys184Glu) c.409-1063A>G (n.409-1063A>G) | |
| 1 | g.173911954T>G | CA343776712 | SERPINC1 | c.469A>C (p.Lys157Gln) n.174A>C c.325A>C (p.Lys109Gln) c.550A>C (p.Lys184Gln) c.409-1063A>C (n.409-1063A>C) | dbSNP |
| 1 | g.173911954T= | CA1207937838 | SERPINC1 | c.469A= (p.Lys157=) n.174A= c.325A= (p.Lys109=) c.550A= (p.Lys184=) c.409-1063A= (n.409-1063A=) | |
| 1 | g.173911955G>A | CA1251408 | SERPINC1 | c.468C>T (p.Ala156=) n.173C>T c.324C>T (p.Ala108=) c.549C>T (p.Ala183=) c.409-1064C>T (n.409-1064C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911955G>C | CA421823146 | SERPINC1 | c.468C>G (p.Ala156=) n.173C>G c.324C>G (p.Ala108=) c.549C>G (p.Ala183=) c.409-1064C>G (n.409-1064C>G) | |
| 1 | g.173911955G= | CA1207937839 | SERPINC1 | c.468C= (p.Ala156=) n.173C= c.324C= (p.Ala108=) c.549C= (p.Ala183=) c.409-1064C= (n.409-1064C=) | |
| 1 | g.173911955G>T | CA421823147 | SERPINC1 | c.468C>A (p.Ala156=) n.173C>A c.324C>A (p.Ala108=) c.549C>A (p.Ala183=) c.409-1064C>A (n.409-1064C>A) | |
| 1 | g.173911956G>A | CA343776715 | SERPINC1 | c.467C>T (p.Ala156Val) n.172C>T c.323C>T (p.Ala108Val) c.548C>T (p.Ala183Val) c.409-1065C>T (n.409-1065C>T) | |
| 1 | g.173911956G>C | CA343776717 | SERPINC1 | c.467C>G (p.Ala156Gly) n.172C>G c.323C>G (p.Ala108Gly) c.548C>G (p.Ala183Gly) c.409-1065C>G (n.409-1065C>G) | |
| 1 | g.173911956G>T | CA343776719 | SERPINC1 | c.467C>A (p.Ala156Asp) n.172C>A c.323C>A (p.Ala108Asp) c.548C>A (p.Ala183Asp) c.409-1065C>A (n.409-1065C>A) | |
| 1 | g.173911957C>A | CA343776720 | SERPINC1 | c.466G>T (p.Ala156Ser) n.171G>T c.322G>T (p.Ala108Ser) c.547G>T (p.Ala183Ser) c.409-1066G>T (n.409-1066G>T) | |
| 1 | g.173911957C>G | CA343776722 | SERPINC1 | c.466G>C (p.Ala156Pro) n.171G>C c.322G>C (p.Ala108Pro) c.547G>C (p.Ala183Pro) c.409-1066G>C (n.409-1066G>C) | |
| 1 | g.173911957C>T | CA343776724 | SERPINC1 | c.466G>A (p.Ala156Thr) n.171G>A c.322G>A (p.Ala108Thr) c.547G>A (p.Ala183Thr) c.409-1066G>A (n.409-1066G>A) | |
| 1 | g.173911958A>C | CA343776725 | SERPINC1 | c.465T>G (p.Phe155Leu) n.170T>G c.321T>G (p.Phe107Leu) c.546T>G (p.Phe182Leu) c.409-1067T>G (n.409-1067T>G) | |
| 1 | g.173911958A>G | CA421823151 | SERPINC1 | c.465T>C (p.Phe155=) n.170T>C c.321T>C (p.Phe107=) c.546T>C (p.Phe182=) c.409-1067T>C (n.409-1067T>C) | |
| 1 | g.173911958A>T | CA343776727 | SERPINC1 | c.465T>A (p.Phe155Leu) n.170T>A c.321T>A (p.Phe107Leu) c.546T>A (p.Phe182Leu) c.409-1067T>A (n.409-1067T>A) | |
| 1 | g.173911958_173911961delinsAAAG | CA1207937840 | SERPINC1 | c.462_465delinsCTTT (p.Phe154=) n.167_170delinsCTTT c.318_321delinsCTTT (p.Phe106=) c.543_546delinsCTTT (p.Phe181=) c.409-1070_409-1067delinsCTTT (n.409-1070_409-1067delinsCTTT) | |
| 1 | g.173911959A>C | CA343776733 | SERPINC1 | c.464T>G (p.Phe155Cys) n.169T>G c.320T>G (p.Phe107Cys) c.545T>G (p.Phe182Cys) c.409-1068T>G (n.409-1068T>G) | |
| 1 | g.173911959A>G | CA343776731 | SERPINC1 | c.464T>C (p.Phe155Ser) n.169T>C c.320T>C (p.Phe107Ser) c.545T>C (p.Phe182Ser) c.409-1068T>C (n.409-1068T>C) | |
| 1 | g.173911959A>T | CA343776729 | SERPINC1 | c.464T>A (p.Phe155Tyr) n.169T>A c.320T>A (p.Phe107Tyr) c.545T>A (p.Phe182Tyr) c.409-1068T>A (n.409-1068T>A) | |
| 1 | g.173911959_173911967del | CA2695195503 | SERPINC1 | c.456_464del (p.Phe153_Phe155del) n.161_169del c.312_320del (p.Phe105_Phe107del) c.537_545del (p.Phe180_Phe182del) c.409-1076_409-1068del (n.409-1076_409-1068del) | |
| 1 | g.173911965_173911967del | CA334029 | SERPINC1 | c.462_464del (p.Phe155del) n.167_169del c.318_320del (p.Phe107del) c.543_545del (p.Phe182del) c.409-1070_409-1068del (n.409-1070_409-1068del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173911960A>C | CA343776734 | SERPINC1 | c.463T>G (p.Phe155Val) n.168T>G c.319T>G (p.Phe107Val) c.544T>G (p.Phe182Val) c.409-1069T>G (n.409-1069T>G) | |
| 1 | g.173911960A>G | CA343776736 | SERPINC1 | c.463T>C (p.Phe155Leu) n.168T>C c.319T>C (p.Phe107Leu) c.544T>C (p.Phe182Leu) c.409-1069T>C (n.409-1069T>C) | |
| 1 | g.173911960A>T | CA343776737 | SERPINC1 | c.463T>A (p.Phe155Ile) n.168T>A c.319T>A (p.Phe107Ile) c.544T>A (p.Phe182Ile) c.409-1069T>A (n.409-1069T>A) | |
| 1 | g.173911961del | CA2586964426 | SERPINC1 | c.462del (p.Phe155LeufsTer4) n.167del c.318del (p.Phe107LeufsTer4) c.543del (p.Phe182LeufsTer4) c.409-1070del (n.409-1070del) | |
| 1 | g.173911961G>A | CA421823157 | SERPINC1 | c.462C>T (p.Phe154=) n.167C>T c.318C>T (p.Phe106=) c.543C>T (p.Phe181=) c.409-1070C>T (n.409-1070C>T) | |
| 1 | g.173911961G>C | CA343776738 | SERPINC1 | c.462C>G (p.Phe154Leu) n.167C>G c.318C>G (p.Phe106Leu) c.543C>G (p.Phe181Leu) c.409-1070C>G (n.409-1070C>G) | |
| 1 | g.173911961G>T | CA343776740 | SERPINC1 | c.462C>A (p.Phe154Leu) n.167C>A c.318C>A (p.Phe106Leu) c.543C>A (p.Phe181Leu) c.409-1070C>A (n.409-1070C>A) | |
| 1 | g.173911962A>C | CA343776745 | SERPINC1 | c.461T>G (p.Phe154Cys) n.166T>G c.317T>G (p.Phe106Cys) c.542T>G (p.Phe181Cys) c.409-1071T>G (n.409-1071T>G) | |
| 1 | g.173911962A>G | CA343776742 | SERPINC1 | c.461T>C (p.Phe154Ser) n.166T>C c.317T>C (p.Phe106Ser) c.542T>C (p.Phe181Ser) c.409-1071T>C (n.409-1071T>C) | |
| 1 | g.173911962A>T | CA343776743 | SERPINC1 | c.461T>A (p.Phe154Tyr) n.166T>A c.317T>A (p.Phe106Tyr) c.542T>A (p.Phe181Tyr) c.409-1071T>A (n.409-1071T>A) | |
| 1 | g.173911963A>C | CA343776747 | SERPINC1 | c.460T>G (p.Phe154Val) n.165T>G c.316T>G (p.Phe106Val) c.541T>G (p.Phe181Val) c.409-1072T>G (n.409-1072T>G) | |
| 1 | g.173911963A>G | CA343776748 | SERPINC1 | c.460T>C (p.Phe154Leu) n.165T>C c.316T>C (p.Phe106Leu) c.541T>C (p.Phe181Leu) c.409-1072T>C (n.409-1072T>C) | |
| 1 | g.173911963A>T | CA343776750 | SERPINC1 | c.460T>A (p.Phe154Ile) n.165T>A c.316T>A (p.Phe106Ile) c.541T>A (p.Phe181Ile) c.409-1072T>A (n.409-1072T>A) | |
| 1 | g.173911964G>A | CA421823159 | SERPINC1 | c.459C>T (p.Phe153=) n.164C>T c.315C>T (p.Phe105=) c.540C>T (p.Phe180=) c.409-1073C>T (n.409-1073C>T) | gnomAD v4 |
| 1 | g.173911964G>C | CA343776751 | SERPINC1 | c.459C>G (p.Phe153Leu) n.164C>G c.315C>G (p.Phe105Leu) c.540C>G (p.Phe180Leu) c.409-1073C>G (n.409-1073C>G) | dbSNP COSMIC |
| 1 | g.173911964G= | CA1207937841 | SERPINC1 | c.459C= (p.Phe153=) n.164C= c.315C= (p.Phe105=) c.540C= (p.Phe180=) c.409-1073C= (n.409-1073C=) | |
| 1 | g.173911964G>T | CA343776753 | SERPINC1 | c.459C>A (p.Phe153Leu) n.164C>A c.315C>A (p.Phe105Leu) c.540C>A (p.Phe180Leu) c.409-1073C>A (n.409-1073C>A) | |
| 1 | g.173911965A= | CA1144233215 | SERPINC1 | c.458T= (p.Phe153=) n.163T= c.314T= (p.Phe105=) c.539T= (p.Phe180=) c.409-1074T= (n.409-1074T=) | |
| 1 | g.173911965A>C | CA343776755 | SERPINC1 | c.458T>G (p.Phe153Cys) n.163T>G c.314T>G (p.Phe105Cys) c.539T>G (p.Phe180Cys) c.409-1074T>G (n.409-1074T>G) | |
| 1 | g.173911965A>G | CA343776757 | SERPINC1 | c.458T>C (p.Phe153Ser) n.163T>C c.314T>C (p.Phe105Ser) c.539T>C (p.Phe180Ser) c.409-1074T>C (n.409-1074T>C) | |
| 1 | g.173911965A>T | CA150680 | SERPINC1 | c.458T>A (p.Phe153Tyr) n.163T>A c.314T>A (p.Phe105Tyr) c.539T>A (p.Phe180Tyr) c.409-1074T>A (n.409-1074T>A) | ClinVar dbSNP |
| 1 | g.173911966A= | CA1207937842 | SERPINC1 | c.457T= (p.Phe153=) n.162T= c.313T= (p.Phe105=) c.538T= (p.Phe180=) c.409-1075T= (n.409-1075T=) | |
| 1 | g.173911966A>C | CA343776759 | SERPINC1 | c.457T>G (p.Phe153Val) n.162T>G c.313T>G (p.Phe105Val) c.538T>G (p.Phe180Val) c.409-1075T>G (n.409-1075T>G) | |
| 1 | g.173911966A>G | CA32781312 | SERPINC1 | c.457T>C (p.Phe153Leu) n.162T>C c.313T>C (p.Phe105Leu) c.538T>C (p.Phe180Leu) c.409-1075T>C (n.409-1075T>C) | dbSNP gnomAD v4 |
| 1 | g.173911966A>T | CA343776762 | SERPINC1 | c.457T>A (p.Phe153Ile) n.162T>A c.313T>A (p.Phe105Ile) c.538T>A (p.Phe180Ile) c.409-1075T>A (n.409-1075T>A) | |
| 1 | g.173911967G>A | CA421823162 | SERPINC1 | c.456C>T (p.His152=) n.161C>T c.312C>T (p.His104=) c.537C>T (p.His179=) c.409-1076C>T (n.409-1076C>T) | gnomAD v4 |
| 1 | g.173911967G>C | CA343776763 | SERPINC1 | c.456C>G (p.His152Gln) n.161C>G c.312C>G (p.His104Gln) c.537C>G (p.His179Gln) c.409-1076C>G (n.409-1076C>G) | |
| 1 | g.173911967G>T | CA343776765 | SERPINC1 | c.456C>A (p.His152Gln) n.161C>A c.312C>A (p.His104Gln) c.537C>A (p.His179Gln) c.409-1076C>A (n.409-1076C>A) | |
| 1 | g.173911968T>A | CA343776767 | SERPINC1 | c.455A>T (p.His152Leu) n.160A>T c.311A>T (p.His104Leu) c.536A>T (p.His179Leu) c.409-1077A>T (n.409-1077A>T) | |
| 1 | g.173911968T>C | CA343776769 | SERPINC1 | c.455A>G (p.His152Arg) n.160A>G c.311A>G (p.His104Arg) c.536A>G (p.His179Arg) c.409-1077A>G (n.409-1077A>G) | |
| 1 | g.173911968T>G | CA343776770 | SERPINC1 | c.455A>C (p.His152Pro) n.160A>C c.311A>C (p.His104Pro) c.536A>C (p.His179Pro) c.409-1077A>C (n.409-1077A>C) | |
| 1 | g.173911969G>A | CA343776771 | SERPINC1 | c.454C>T (p.His152Tyr) n.159C>T c.310C>T (p.His104Tyr) c.535C>T (p.His179Tyr) c.409-1078C>T (n.409-1078C>T) | |
| 1 | g.173911969G>C | CA343776772 | SERPINC1 | c.454C>G (p.His152Asp) n.159C>G c.310C>G (p.His104Asp) c.535C>G (p.His179Asp) c.409-1078C>G (n.409-1078C>G) | |
| 1 | g.173911969G>T | CA343776774 | SERPINC1 | c.454C>A (p.His152Asn) n.159C>A c.310C>A (p.His104Asn) c.535C>A (p.His179Asn) c.409-1078C>A (n.409-1078C>A) | |
| 1 | g.173911970G>A | CA421823163 | SERPINC1 | c.453C>T (p.Ile151=) n.158C>T c.309C>T (p.Ile103=) c.534C>T (p.Ile178=) c.409-1079C>T (n.409-1079C>T) | |
| 1 | g.173911970G>C | CA343776776 | SERPINC1 | c.453C>G (p.Ile151Met) n.158C>G c.309C>G (p.Ile103Met) c.534C>G (p.Ile178Met) c.409-1079C>G (n.409-1079C>G) | |
| 1 | g.173911970G>T | CA421823167 | SERPINC1 | c.453C>A (p.Ile151=) n.158C>A c.309C>A (p.Ile103=) c.534C>A (p.Ile178=) c.409-1079C>A (n.409-1079C>A) | |
| 1 | g.173911974_173911978del | CA2586964427 | SERPINC1 | c.449_453del (p.Gln150ProfsTer?) n.154_158del c.305_309del (p.Gln102ProfsTer?) c.530_534del (p.Gln177ProfsTer?) c.409-1083_409-1079del (n.409-1083_409-1079del) | |
| 1 | g.173911971del | CA2582342978 | SERPINC1 | c.452del (p.Ile151ThrfsTer8) n.157del c.308del (p.Ile103ThrfsTer8) c.533del (p.Ile178ThrfsTer8) c.409-1080del (n.409-1080del) | |
| 1 | g.173911971A>C | CA343776781 | SERPINC1 | c.452T>G (p.Ile151Ser) n.157T>G c.308T>G (p.Ile103Ser) c.533T>G (p.Ile178Ser) c.409-1080T>G (n.409-1080T>G) | |
| 1 | g.173911971A>G | CA343776780 | SERPINC1 | c.452T>C (p.Ile151Thr) n.157T>C c.308T>C (p.Ile103Thr) c.533T>C (p.Ile178Thr) c.409-1080T>C (n.409-1080T>C) | |
| 1 | g.173911971A>T | CA343776778 | SERPINC1 | c.452T>A (p.Ile151Asn) n.157T>A c.308T>A (p.Ile103Asn) c.533T>A (p.Ile178Asn) c.409-1080T>A (n.409-1080T>A) | ClinVar |