| 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.173911823G>A | CA421822956 | SERPINC1 | c.600C>T (p.Ala200=) n.305C>T c.559+41C>T (n.559+41C>T) c.456C>T (p.Ala152=) c.681C>T (p.Ala227=) c.409-932C>T (n.409-932C>T) | gnomAD v4 |
| 1 | g.173911823G>C | CA421822957 | SERPINC1 | c.600C>G (p.Ala200=) n.305C>G c.559+41C>G (n.559+41C>G) c.456C>G (p.Ala152=) c.681C>G (p.Ala227=) c.409-932C>G (n.409-932C>G) | gnomAD v4 |
| 1 | g.173911823G>T | CA421822958 | SERPINC1 | c.600C>A (p.Ala200=) n.305C>A c.559+41C>A (n.559+41C>A) c.456C>A (p.Ala152=) c.681C>A (p.Ala227=) c.409-932C>A (n.409-932C>A) | |
| 1 | g.173911824G>A | CA1251394 | SERPINC1 | c.599C>T (p.Ala200Val) n.304C>T c.559+40C>T (n.559+40C>T) c.455C>T (p.Ala152Val) c.680C>T (p.Ala227Val) c.409-933C>T (n.409-933C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911824G>C | CA343776187 | SERPINC1 | c.599C>G (p.Ala200Gly) n.304C>G c.559+40C>G (n.559+40C>G) c.455C>G (p.Ala152Gly) c.680C>G (p.Ala227Gly) c.409-933C>G (n.409-933C>G) | dbSNP |
| 1 | g.173911824G= | CA1148883263 | SERPINC1 | c.599C= (p.Ala200=) n.304C= c.559+40C= (n.559+40C=) c.455C= (p.Ala152=) c.680C= (p.Ala227=) c.409-933C= (n.409-933C=) | |
| 1 | g.173911824G>T | CA1251395 | SERPINC1 | c.599C>A (p.Ala200Asp) n.304C>A c.559+40C>A (n.559+40C>A) c.455C>A (p.Ala152Asp) c.680C>A (p.Ala227Asp) c.409-933C>A (n.409-933C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911825C>A | CA343776190 | SERPINC1 | c.598G>T (p.Ala200Ser) n.303G>T c.559+39G>T (n.559+39G>T) c.454G>T (p.Ala152Ser) c.679G>T (p.Ala227Ser) c.409-934G>T (n.409-934G>T) | |
| 1 | g.173911825C= | CA1144233210 | SERPINC1 | c.598G= (p.Ala200=) n.303G= c.559+39G= (n.559+39G=) c.454G= (p.Ala152=) c.679G= (p.Ala227=) c.409-934G= (n.409-934G=) | |
| 1 | g.173911825C>G | CA150693 | SERPINC1 | c.598G>C (p.Ala200Pro) n.303G>C c.559+39G>C (n.559+39G>C) c.454G>C (p.Ala152Pro) c.679G>C (p.Ala227Pro) c.409-934G>C (n.409-934G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911825C>T | CA343776193 | SERPINC1 | c.598G>A (p.Ala200Thr) n.303G>A c.559+39G>A (n.559+39G>A) c.454G>A (p.Ala152Thr) c.679G>A (p.Ala227Thr) c.409-934G>A (n.409-934G>A) | |
| 1 | g.173911826T>A | CA421822959 | SERPINC1 | c.597A>T (p.Gly199=) n.302A>T c.559+38A>T (n.559+38A>T) c.453A>T (p.Gly151=) c.678A>T (p.Gly226=) c.409-935A>T (n.409-935A>T) | dbSNP gnomAD v4 |
| 1 | g.173911826T>C | CA421822960 | SERPINC1 | c.597A>G (p.Gly199=) n.302A>G c.559+38A>G (n.559+38A>G) c.453A>G (p.Gly151=) c.678A>G (p.Gly226=) c.409-935A>G (n.409-935A>G) | |
| 1 | g.173911826T>G | CA421822961 | SERPINC1 | c.597A>C (p.Gly199=) n.302A>C c.559+38A>C (n.559+38A>C) c.453A>C (p.Gly151=) c.678A>C (p.Gly226=) c.409-935A>C (n.409-935A>C) | |
| 1 | g.173911826T= | CA1207937793 | SERPINC1 | c.597A= (p.Gly199=) n.302A= c.559+38A= (n.559+38A=) c.453A= (p.Gly151=) c.678A= (p.Gly226=) c.409-935A= (n.409-935A=) | |
| 1 | g.173911827C>A | CA343776197 | SERPINC1 | c.596G>T (p.Gly199Val) n.301G>T c.559+37G>T (n.559+37G>T) c.452G>T (p.Gly151Val) c.677G>T (p.Gly226Val) c.409-936G>T (n.409-936G>T) | |
| 1 | g.173911827C= | CA1207937794 | SERPINC1 | c.596G= (p.Gly199=) n.301G= c.559+37G= (n.559+37G=) c.452G= (p.Gly151=) c.677G= (p.Gly226=) c.409-936G= (n.409-936G=) | |
| 1 | g.173911827C>G | CA343776202 | SERPINC1 | c.596G>C (p.Gly199Ala) n.301G>C c.559+37G>C (n.559+37G>C) c.452G>C (p.Gly151Ala) c.677G>C (p.Gly226Ala) c.409-936G>C (n.409-936G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911827C>T | CA343776200 | SERPINC1 | c.596G>A (p.Gly199Glu) n.301G>A c.559+37G>A (n.559+37G>A) c.452G>A (p.Gly151Glu) c.677G>A (p.Gly226Glu) c.409-936G>A (n.409-936G>A) | |
| 1 | g.173911828C>A | CA343776205 | SERPINC1 | c.595G>T (p.Gly199Ter) n.300G>T c.559+36G>T (n.559+36G>T) c.451G>T (p.Gly151Ter) c.676G>T (p.Gly226Ter) c.409-937G>T (n.409-937G>T) | |
| 1 | g.173911828C= | CA1207937795 | SERPINC1 | c.595G= (p.Gly199=) n.300G= c.559+36G= (n.559+36G=) c.451G= (p.Gly151=) c.676G= (p.Gly226=) c.409-937G= (n.409-937G=) | |
| 1 | g.173911828C>G | CA343776207 | SERPINC1 | c.595G>C (p.Gly199Arg) n.300G>C c.559+36G>C (n.559+36G>C) c.451G>C (p.Gly151Arg) c.676G>C (p.Gly226Arg) c.409-937G>C (n.409-937G>C) | |
| 1 | g.173911828C>T | CA1251396 | SERPINC1 | c.595G>A (p.Gly199Arg) n.300G>A c.559+36G>A (n.559+36G>A) c.451G>A (p.Gly151Arg) c.676G>A (p.Gly226Arg) c.409-937G>A (n.409-937G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911829A= | CA1142624269 | SERPINC1 | c.594T= (p.Tyr198=) n.299T= c.559+35T= (n.559+35T=) c.450T= (p.Tyr150=) c.675T= (p.Tyr225=) c.409-938T= (n.409-938T=) | |
| 1 | g.173911829A>C | CA343776213 | SERPINC1 | c.594T>G (p.Tyr198Ter) n.299T>G c.559+35T>G (n.559+35T>G) c.450T>G (p.Tyr150Ter) c.675T>G (p.Tyr225Ter) c.409-938T>G (n.409-938T>G) | |
| 1 | g.173911829A>G | CA1251397 | SERPINC1 | c.594T>C (p.Tyr198=) n.299T>C c.559+35T>C (n.559+35T>C) c.450T>C (p.Tyr150=) c.675T>C (p.Tyr225=) c.409-938T>C (n.409-938T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173911829A>T | CA343776215 | SERPINC1 | c.594T>A (p.Tyr198Ter) n.299T>A c.559+35T>A (n.559+35T>A) c.450T>A (p.Tyr150Ter) c.675T>A (p.Tyr225Ter) c.409-938T>A (n.409-938T>A) | |
| 1 | g.173911830T>A | CA343776218 | SERPINC1 | c.593A>T (p.Tyr198Phe) n.298A>T c.559+34A>T (n.559+34A>T) c.449A>T (p.Tyr150Phe) c.674A>T (p.Tyr225Phe) c.409-939A>T (n.409-939A>T) | |
| 1 | g.173911830T>C | CA343776220 | SERPINC1 | c.593A>G (p.Tyr198Cys) n.298A>G c.559+34A>G (n.559+34A>G) c.449A>G (p.Tyr150Cys) c.674A>G (p.Tyr225Cys) c.409-939A>G (n.409-939A>G) | dbSNP gnomAD v2 |
| 1 | g.173911830T>G | CA343776223 | SERPINC1 | c.593A>C (p.Tyr198Ser) n.298A>C c.559+34A>C (n.559+34A>C) c.449A>C (p.Tyr150Ser) c.674A>C (p.Tyr225Ser) c.409-939A>C (n.409-939A>C) | |
| 1 | g.173911830T= | CA1207937796 | SERPINC1 | c.593A= (p.Tyr198=) n.298A= c.559+34A= (n.559+34A=) c.449A= (p.Tyr150=) c.674A= (p.Tyr225=) c.409-939A= (n.409-939A=) | |
| 1 | g.173911831A= | CA1207937797 | SERPINC1 | c.592T= (p.Tyr198=) n.297T= c.559+33T= (n.559+33T=) c.448T= (p.Tyr150=) c.673T= (p.Tyr225=) c.409-940T= (n.409-940T=) | |
| 1 | g.173911831A>C | CA343776225 | SERPINC1 | c.592T>G (p.Tyr198Asp) n.297T>G c.559+33T>G (n.559+33T>G) c.448T>G (p.Tyr150Asp) c.673T>G (p.Tyr225Asp) c.409-940T>G (n.409-940T>G) | |
| 1 | g.173911831A>G | CA343776228 | SERPINC1 | c.592T>C (p.Tyr198His) n.297T>C c.559+33T>C (n.559+33T>C) c.448T>C (p.Tyr150His) c.673T>C (p.Tyr225His) c.409-940T>C (n.409-940T>C) | ClinVar dbSNP |
| 1 | g.173911831A>T | CA343776230 | SERPINC1 | c.592T>A (p.Tyr198Asn) n.297T>A c.559+33T>A (n.559+33T>A) c.448T>A (p.Tyr150Asn) c.673T>A (p.Tyr225Asn) c.409-940T>A (n.409-940T>A) | |
| 1 | g.173911832T>A | CA421822962 | SERPINC1 | c.591A>T (p.Val197=) n.296A>T c.559+32A>T (n.559+32A>T) c.447A>T (p.Val149=) c.672A>T (p.Val224=) c.409-941A>T (n.409-941A>T) | |
| 1 | g.173911832T>C | CA32781271 | SERPINC1 | c.591A>G (p.Val197=) n.296A>G c.559+32A>G (n.559+32A>G) c.447A>G (p.Val149=) c.672A>G (p.Val224=) c.409-941A>G (n.409-941A>G) | dbSNP gnomAD v4 |
| 1 | g.173911832T>G | CA421822963 | SERPINC1 | c.591A>C (p.Val197=) n.296A>C c.559+32A>C (n.559+32A>C) c.447A>C (p.Val149=) c.672A>C (p.Val224=) c.409-941A>C (n.409-941A>C) | dbSNP |
| 1 | g.173911832T= | CA1207937798 | SERPINC1 | c.591A= (p.Val197=) n.296A= c.559+32A= (n.559+32A=) c.447A= (p.Val149=) c.672A= (p.Val224=) c.409-941A= (n.409-941A=) | |
| 1 | g.173911833A= | CA1207937799 | SERPINC1 | c.590T= (p.Val197=) n.295T= c.559+31T= (n.559+31T=) c.446T= (p.Val149=) c.671T= (p.Val224=) c.409-942T= (n.409-942T=) | |
| 1 | g.173911833A>C | CA343776232 | SERPINC1 | c.590T>G (p.Val197Gly) n.295T>G c.559+31T>G (n.559+31T>G) c.446T>G (p.Val149Gly) c.671T>G (p.Val224Gly) c.409-942T>G (n.409-942T>G) | |
| 1 | g.173911833A>G | CA343776236 | SERPINC1 | c.590T>C (p.Val197Ala) n.295T>C c.559+31T>C (n.559+31T>C) c.446T>C (p.Val149Ala) c.671T>C (p.Val224Ala) c.409-942T>C (n.409-942T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173911833A>T | CA343776233 | SERPINC1 | c.590T>A (p.Val197Glu) n.295T>A c.559+31T>A (n.559+31T>A) c.446T>A (p.Val149Glu) c.671T>A (p.Val224Glu) c.409-942T>A (n.409-942T>A) | |
| 1 | g.173911834C>A | CA343776239 | SERPINC1 | c.589G>T (p.Val197Leu) n.294G>T c.559+30G>T (n.559+30G>T) c.445G>T (p.Val149Leu) c.670G>T (p.Val224Leu) c.409-943G>T (n.409-943G>T) | |
| 1 | g.173911834C= | CA1207937800 | SERPINC1 | c.589G= (p.Val197=) n.294G= c.559+30G= (n.559+30G=) c.445G= (p.Val149=) c.670G= (p.Val224=) c.409-943G= (n.409-943G=) | |
| 1 | g.173911834C>G | CA1251398 | SERPINC1 | c.589G>C (p.Val197Leu) n.294G>C c.559+30G>C (n.559+30G>C) c.445G>C (p.Val149Leu) c.670G>C (p.Val224Leu) c.409-943G>C (n.409-943G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |