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.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.173912151_173919034dup | CA2580611212 | |||
1 | g.173912552_173914879del | CA2573051423 | SERPINC1 | c.84_409-536del n.310_635-536del c.-61_265-536del c.165_490-536del c.84_409-1659del | ClinVar |
1 | g.173914640_173922032del | CA2573051424 | ClinVar | ||
1 | g.173914872A= | CA1139922000 | SERPINC1 | c.89T= (p.Val30=) n.315T= c.-56T= (n.-56T=) c.170T= (p.Val57=) | |
1 | g.173914872A>C | CA343778436 | SERPINC1 | c.89T>G (p.Val30Gly) n.315T>G c.-56T>G (n.-56T>G) c.170T>G (p.Val57Gly) | |
1 | g.173914872A>G | CA343778438 | SERPINC1 | c.89T>C (p.Val30Ala) n.315T>C c.-56T>C (n.-56T>C) c.170T>C (p.Val57Ala) | |
1 | g.173914872A>T | CA325653 | SERPINC1 | c.89T>A (p.Val30Glu) n.315T>A c.-56T>A (n.-56T>A) c.170T>A (p.Val57Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914872_173914874delinsACG | CA1207939032 | SERPINC1 | c.87_89delinsCGT (p.Cys29=) n.313_315delinsCGT c.-58_-56delinsCGT (n.-58_-56delinsCGT) c.168_170delinsCGT (p.Cys56=) | |
1 | g.173914873C>A | CA343778441 | SERPINC1 | c.88G>T (p.Val30Leu) n.314G>T c.-57G>T (n.-57G>T) c.169G>T (p.Val57Leu) | |
1 | g.173914873C= | CA1144663403 | SERPINC1 | c.88G= (p.Val30=) n.314G= c.-57G= (n.-57G=) c.169G= (p.Val57=) | |
1 | g.173914873C>G | CA343778442 | SERPINC1 | c.88G>C (p.Val30Leu) n.314G>C c.-57G>C (n.-57G>C) c.169G>C (p.Val57Leu) | |
1 | g.173914873C>T | CA1251470 | SERPINC1 | c.88G>A (p.Val30Met) n.314G>A c.-57G>A (n.-57G>A) c.169G>A (p.Val57Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914874_173914875del | CA1207939033 | SERPINC1 | c.87_88del (p.Val30AspfsTer?) n.313_314del c.-58_-57del (n.-58_-57del) c.168_169del (p.Val57AspfsTer?) | dbSNP |
1 | g.173914874G>A | CA1251471 | SERPINC1 | c.87C>T (p.Cys29=) n.313C>T c.-58C>T (n.-58C>T) c.168C>T (p.Cys56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914874G>C | CA343778446 | SERPINC1 | c.87C>G (p.Cys29Trp) n.313C>G c.-58C>G (n.-58C>G) c.168C>G (p.Cys56Trp) | gnomAD v4 |
1 | g.173914874G= | CA1142983868 | SERPINC1 | c.87C= (p.Cys29=) n.313C= c.-58C= (n.-58C=) c.168C= (p.Cys56=) | |
1 | g.173914874G>T | CA343778447 | SERPINC1 | c.87C>A (p.Cys29Ter) n.313C>A c.-58C>A (n.-58C>A) c.168C>A (p.Cys56Ter) | |
1 | g.173914874_173914875delinsAG | CA2580060354 | SERPINC1 | c.86_87delinsCT (p.Cys29Ser) n.312_313delinsCT c.-59_-58delinsCT (n.-59_-58delinsCT) c.167_168delinsCT (p.Cys56Ser) | |
1 | g.173914875C>A | CA343778452 | SERPINC1 | c.86G>T (p.Cys29Phe) n.312G>T c.-59G>T (n.-59G>T) c.167G>T (p.Cys56Phe) | |
1 | g.173914875C= | CA1207939034 | SERPINC1 | c.86G= (p.Cys29=) n.312G= c.-59G= (n.-59G=) c.167G= (p.Cys56=) | |
1 | g.173914875C>G | CA343778451 | SERPINC1 | c.86G>C (p.Cys29Ser) n.312G>C c.-59G>C (n.-59G>C) c.167G>C (p.Cys56Ser) | dbSNP |
1 | g.173914875C>T | CA343778449 | SERPINC1 | c.86G>A (p.Cys29Tyr) n.312G>A c.-59G>A (n.-59G>A) c.167G>A (p.Cys56Tyr) | |
1 | g.173914876A= | CA1207939035 | SERPINC1 | c.85T= (p.Cys29=) n.311T= c.-60T= (n.-60T=) c.166T= (p.Cys56=) | |
1 | g.173914876A>C | CA343778458 | SERPINC1 | c.85T>G (p.Cys29Gly) n.311T>G c.-60T>G (n.-60T>G) c.166T>G (p.Cys56Gly) | |
1 | g.173914876A>G | CA343778454 | SERPINC1 | c.85T>C (p.Cys29Arg) n.311T>C c.-60T>C (n.-60T>C) c.166T>C (p.Cys56Arg) | dbSNP |
1 | g.173914876A>T | CA343778456 | SERPINC1 | c.85T>A (p.Cys29Ser) n.311T>A c.-60T>A (n.-60T>A) c.166T>A (p.Cys56Ser) | |
1 | g.173914877G>A | CA421943268 | SERPINC1 | c.84C>T (p.Asp28=) n.310C>T c.-61C>T (n.-61C>T) c.165C>T (p.Asp55=) | |
1 | g.173914877G>C | CA343778460 | SERPINC1 | c.84C>G (p.Asp28Glu) n.310C>G c.-61C>G (n.-61C>G) c.165C>G (p.Asp55Glu) | |
1 | g.173914877G>T | CA343778461 | SERPINC1 | c.84C>A (p.Asp28Glu) n.310C>A c.-61C>A (n.-61C>A) c.165C>A (p.Asp55Glu) | |
1 | g.173914878T>A | CA343778463 | SERPINC1 | c.83A>T (p.Asp28Val) n.309A>T c.-62A>T (n.-62A>T) c.164A>T (p.Asp55Val) | |
1 | g.173914878T>C | CA343778464 | SERPINC1 | c.83A>G (p.Asp28Gly) n.309A>G c.-62A>G (n.-62A>G) c.164A>G (p.Asp55Gly) | |
1 | g.173914878T>G | CA343778466 | SERPINC1 | c.83A>C (p.Asp28Ala) n.309A>C c.-62A>C (n.-62A>C) c.164A>C (p.Asp55Ala) | |
1 | g.173914879C>A | CA343778468 | SERPINC1 | c.82G>T (p.Asp28Tyr) n.308G>T c.-63G>T (n.-63G>T) c.163G>T (p.Asp55Tyr) | |
1 | g.173914879C= | CA1207939036 | SERPINC1 | c.82G= (p.Asp28=) n.308G= c.-63G= (n.-63G=) c.163G= (p.Asp55=) | |
1 | g.173914879C>G | CA343778470 | SERPINC1 | c.82G>C (p.Asp28His) n.308G>C c.-63G>C (n.-63G>C) c.163G>C (p.Asp55His) | |
1 | g.173914879C>T | CA343778471 | SERPINC1 | c.82G>A (p.Asp28Asn) n.308G>A c.-63G>A (n.-63G>A) c.163G>A (p.Asp55Asn) | dbSNP |
1 | g.173914880C>A | CA343778473 | SERPINC1 | c.81G>T (p.Trp27Cys) n.307G>T c.-64G>T (n.-64G>T) c.162G>T (p.Trp54Cys) | |
1 | g.173914880C>G | CA343778475 | SERPINC1 | c.81G>C (p.Trp27Cys) n.307G>C c.-64G>C (n.-64G>C) c.162G>C (p.Trp54Cys) | |
1 | g.173914880C>T | CA343778476 | SERPINC1 | c.81G>A (p.Trp27Ter) n.307G>A c.-64G>A (n.-64G>A) c.162G>A (p.Trp54Ter) | COSMIC |
1 | g.173914881C>A | CA343778482 | SERPINC1 | c.80G>T (p.Trp27Leu) n.306G>T c.-65G>T (n.-65G>T) c.161G>T (p.Trp54Leu) | |
1 | g.173914881C>G | CA343778479 | SERPINC1 | c.80G>C (p.Trp27Ser) n.306G>C c.-65G>C (n.-65G>C) c.161G>C (p.Trp54Ser) | |
1 | g.173914881C>T | CA343778481 | SERPINC1 | c.80G>A (p.Trp27Ter) n.306G>A c.-65G>A (n.-65G>A) c.161G>A (p.Trp54Ter) | |
1 | g.173914882A= | CA1207939037 | SERPINC1 | c.79T= (p.Trp27=) n.305T= c.-66T= (n.-66T=) c.160T= (p.Trp54=) | |
1 | g.173914882A>C | CA343778483 | SERPINC1 | c.79T>G (p.Trp27Gly) n.305T>G c.-66T>G (n.-66T>G) c.160T>G (p.Trp54Gly) | COSMIC |
1 | g.173914882A>G | CA343778485 | SERPINC1 | c.79T>C (p.Trp27Arg) n.305T>C c.-66T>C (n.-66T>C) c.160T>C (p.Trp54Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.173914882A>T | CA343778486 | SERPINC1 | c.79T>A (p.Trp27Arg) n.305T>A c.-66T>A (n.-66T>A) c.160T>A (p.Trp54Arg) | |
1 | g.173914883G>A | CA1251472 | SERPINC1 | c.78C>T (p.Phe26=) n.304C>T c.-67C>T (n.-67C>T) c.159C>T (p.Phe53=) | dbSNP ExAC gnomAD v2 |