| 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.173909622_173910322del | CA2573051420 | SERPINC1 | c.763-379_1084del c.559+1543_560-2128del (n.559+1543_560-2128del) c.619-379_940del c.885+310_1207del c.844-379_1165del c.742-379_1063del c.762+433_1027del c.547-379_868del | ClinVar dbSNP |
| 1 | g.173909784_173909888del | CA2586964406 | SERPINC1 | c.817_921del (p.Lys273_Lys307del) n.468_572del c.559+1976_559+2080del (n.559+1976_559+2080del) c.673_777del (p.Lys225_Lys259del) c.940_1044del (p.Lys314_Lys348del) c.898_1002del (p.Lys300_Lys334del) c.796_900del (p.Lys266_Lys300del) c.763-3_864del c.601_705del (p.Lys201_Lys235del) | |
| 1 | g.173909888T>A | CA343774681 | SERPINC1 | c.817A>T (p.Lys273Ter) n.468A>T c.559+1976A>T (n.559+1976A>T) c.673A>T (p.Lys225Ter) c.940A>T (p.Lys314Ter) c.898A>T (p.Lys300Ter) c.796A>T (p.Lys266Ter) c.763-3A>T (n.763-3A>T) c.601A>T (p.Lys201Ter) | |
| 1 | g.173909888T>C | CA343774683 | SERPINC1 | c.817A>G (p.Lys273Glu) n.468A>G c.559+1976A>G (n.559+1976A>G) c.673A>G (p.Lys225Glu) c.940A>G (p.Lys314Glu) c.898A>G (p.Lys300Glu) c.796A>G (p.Lys266Glu) c.763-3A>G (n.763-3A>G) c.601A>G (p.Lys201Glu) | |
| 1 | g.173909888T>G | CA343774679 | SERPINC1 | c.817A>C (p.Lys273Gln) n.468A>C c.559+1976A>C (n.559+1976A>C) c.673A>C (p.Lys225Gln) c.940A>C (p.Lys314Gln) c.898A>C (p.Lys300Gln) c.796A>C (p.Lys266Gln) c.763-3A>C (n.763-3A>C) c.601A>C (p.Lys201Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909888T= | CA1207937038 | SERPINC1 | c.817A= (p.Lys273=) n.468A= c.559+1976A= (n.559+1976A=) c.673A= (p.Lys225=) c.940A= (p.Lys314=) c.898A= (p.Lys300=) c.796A= (p.Lys266=) c.763-3A= (n.763-3A=) c.601A= (p.Lys201=) | |
| 1 | g.173909889G>A | CA32780432 | SERPINC1 | c.816C>T (p.Tyr272=) n.467C>T c.559+1975C>T (n.559+1975C>T) c.672C>T (p.Tyr224=) c.939C>T (p.Tyr313=) c.897C>T (p.Tyr299=) c.795C>T (p.Tyr265=) c.763-4C>T (n.763-4C>T) c.600C>T (p.Tyr200=) | dbSNP |
| 1 | g.173909889G>C | CA343774686 | SERPINC1 | c.816C>G (p.Tyr272Ter) n.467C>G c.559+1975C>G (n.559+1975C>G) c.672C>G (p.Tyr224Ter) c.939C>G (p.Tyr313Ter) c.897C>G (p.Tyr299Ter) c.795C>G (p.Tyr265Ter) c.763-4C>G (n.763-4C>G) c.600C>G (p.Tyr200Ter) | |
| 1 | g.173909889G= | CA1207937039 | SERPINC1 | c.816C= (p.Tyr272=) n.467C= c.559+1975C= (n.559+1975C=) c.672C= (p.Tyr224=) c.939C= (p.Tyr313=) c.897C= (p.Tyr299=) c.795C= (p.Tyr265=) c.763-4C= (n.763-4C=) c.600C= (p.Tyr200=) | |
| 1 | g.173909889G>T | CA343774688 | SERPINC1 | c.816C>A (p.Tyr272Ter) n.467C>A c.559+1975C>A (n.559+1975C>A) c.672C>A (p.Tyr224Ter) c.939C>A (p.Tyr313Ter) c.897C>A (p.Tyr299Ter) c.795C>A (p.Tyr265Ter) c.763-4C>A (n.763-4C>A) c.600C>A (p.Tyr200Ter) | |
| 1 | g.173909890T>A | CA343774690 | SERPINC1 | c.815A>T (p.Tyr272Phe) n.466A>T c.559+1974A>T (n.559+1974A>T) c.671A>T (p.Tyr224Phe) c.938A>T (p.Tyr313Phe) c.896A>T (p.Tyr299Phe) c.794A>T (p.Tyr265Phe) c.763-5A>T (n.763-5A>T) c.599A>T (p.Tyr200Phe) | |
| 1 | g.173909890T>C | CA343774692 | SERPINC1 | c.815A>G (p.Tyr272Cys) n.466A>G c.559+1974A>G (n.559+1974A>G) c.671A>G (p.Tyr224Cys) c.938A>G (p.Tyr313Cys) c.896A>G (p.Tyr299Cys) c.794A>G (p.Tyr265Cys) c.763-5A>G (n.763-5A>G) c.599A>G (p.Tyr200Cys) | |
| 1 | g.173909890T>G | CA343774693 | SERPINC1 | c.815A>C (p.Tyr272Ser) n.466A>C c.559+1974A>C (n.559+1974A>C) c.671A>C (p.Tyr224Ser) c.938A>C (p.Tyr313Ser) c.896A>C (p.Tyr299Ser) c.794A>C (p.Tyr265Ser) c.763-5A>C (n.763-5A>C) c.599A>C (p.Tyr200Ser) | |
| 1 | g.173909891A>C | CA343774695 | SERPINC1 | c.814T>G (p.Tyr272Asp) n.465T>G c.559+1973T>G (n.559+1973T>G) c.670T>G (p.Tyr224Asp) c.937T>G (p.Tyr313Asp) c.895T>G (p.Tyr299Asp) c.793T>G (p.Tyr265Asp) c.763-6T>G (n.763-6T>G) c.598T>G (p.Tyr200Asp) | |
| 1 | g.173909891A>G | CA343774699 | SERPINC1 | c.814T>C (p.Tyr272His) n.465T>C c.559+1973T>C (n.559+1973T>C) c.670T>C (p.Tyr224His) c.937T>C (p.Tyr313His) c.895T>C (p.Tyr299His) c.793T>C (p.Tyr265His) c.763-6T>C (n.763-6T>C) c.598T>C (p.Tyr200His) | |
| 1 | g.173909891A>T | CA343774697 | SERPINC1 | c.814T>A (p.Tyr272Asn) n.465T>A c.559+1973T>A (n.559+1973T>A) c.670T>A (p.Tyr224Asn) c.937T>A (p.Tyr313Asn) c.895T>A (p.Tyr299Asn) c.793T>A (p.Tyr265Asn) c.763-6T>A (n.763-6T>A) c.598T>A (p.Tyr200Asn) | |
| 1 | g.173909891dup | CA2580651198 | SERPINC1 | c.814dup (p.Tyr272LeufsTer4) n.465dup c.559+1973dup (n.559+1973dup) c.670dup (p.Tyr224LeufsTer4) c.937dup (p.Tyr313LeufsTer4) c.895dup (p.Tyr299LeufsTer4) c.793dup (p.Tyr265LeufsTer4) c.763-6dup (n.763-6dup) c.598dup (p.Tyr200LeufsTer4) | |
| 1 | g.173909892_173909893del | CA2582343016 | SERPINC1 | c.813_814del (p.Phe271LeufsTer4) n.464_465del c.559+1972_559+1973del (n.559+1972_559+1973del) c.669_670del (p.Phe223LeufsTer4) c.936_937del (p.Phe312LeufsTer4) c.894_895del (p.Phe298LeufsTer4) c.792_793del (p.Phe264LeufsTer4) c.763-7_763-6del (n.763-7_763-6del) c.597_598del (p.Phe199LeufsTer4) | |
| 1 | g.173909892G>A | CA421942783 | SERPINC1 | c.813C>T (p.Phe271=) n.464C>T c.559+1972C>T (n.559+1972C>T) c.669C>T (p.Phe223=) c.936C>T (p.Phe312=) c.894C>T (p.Phe298=) c.792C>T (p.Phe264=) c.763-7C>T (n.763-7C>T) c.597C>T (p.Phe199=) | gnomAD v4 |
| 1 | g.173909892G>C | CA343774700 | SERPINC1 | c.813C>G (p.Phe271Leu) n.464C>G c.559+1972C>G (n.559+1972C>G) c.669C>G (p.Phe223Leu) c.936C>G (p.Phe312Leu) c.894C>G (p.Phe298Leu) c.792C>G (p.Phe264Leu) c.763-7C>G (n.763-7C>G) c.597C>G (p.Phe199Leu) | |
| 1 | g.173909892G>T | CA343774702 | SERPINC1 | c.813C>A (p.Phe271Leu) n.464C>A c.559+1972C>A (n.559+1972C>A) c.669C>A (p.Phe223Leu) c.936C>A (p.Phe312Leu) c.894C>A (p.Phe298Leu) c.792C>A (p.Phe264Leu) c.763-7C>A (n.763-7C>A) c.597C>A (p.Phe199Leu) | |
| 1 | g.173909893A>C | CA343774704 | SERPINC1 | c.812T>G (p.Phe271Cys) n.463T>G c.559+1971T>G (n.559+1971T>G) c.668T>G (p.Phe223Cys) c.935T>G (p.Phe312Cys) c.893T>G (p.Phe298Cys) c.791T>G (p.Phe264Cys) c.763-8T>G (n.763-8T>G) c.596T>G (p.Phe199Cys) | |
| 1 | g.173909893A>G | CA343774705 | SERPINC1 | c.812T>C (p.Phe271Ser) n.463T>C c.559+1971T>C (n.559+1971T>C) c.668T>C (p.Phe223Ser) c.935T>C (p.Phe312Ser) c.893T>C (p.Phe298Ser) c.791T>C (p.Phe264Ser) c.763-8T>C (n.763-8T>C) c.596T>C (p.Phe199Ser) | |
| 1 | g.173909893A>T | CA343774707 | SERPINC1 | c.812T>A (p.Phe271Tyr) n.463T>A c.559+1971T>A (n.559+1971T>A) c.668T>A (p.Phe223Tyr) c.935T>A (p.Phe312Tyr) c.893T>A (p.Phe298Tyr) c.791T>A (p.Phe264Tyr) c.763-8T>A (n.763-8T>A) c.596T>A (p.Phe199Tyr) | |
| 1 | g.173909894A>C | CA343774711 | SERPINC1 | c.811T>G (p.Phe271Val) n.462T>G c.559+1970T>G (n.559+1970T>G) c.667T>G (p.Phe223Val) c.934T>G (p.Phe312Val) c.892T>G (p.Phe298Val) c.790T>G (p.Phe264Val) c.763-9T>G (n.763-9T>G) c.595T>G (p.Phe199Val) | |
| 1 | g.173909894A>G | CA343774713 | SERPINC1 | c.811T>C (p.Phe271Leu) n.462T>C c.559+1970T>C (n.559+1970T>C) c.667T>C (p.Phe223Leu) c.934T>C (p.Phe312Leu) c.892T>C (p.Phe298Leu) c.790T>C (p.Phe264Leu) c.763-9T>C (n.763-9T>C) c.595T>C (p.Phe199Leu) | |
| 1 | g.173909894A>T | CA343774709 | SERPINC1 | c.811T>A (p.Phe271Ile) n.462T>A c.559+1970T>A (n.559+1970T>A) c.667T>A (p.Phe223Ile) c.934T>A (p.Phe312Ile) c.892T>A (p.Phe298Ile) c.790T>A (p.Phe264Ile) c.763-9T>A (n.763-9T>A) c.595T>A (p.Phe199Ile) | |
| 1 | g.173909895C>A | CA421942785 | SERPINC1 | c.810G>T (p.Leu270=) n.461G>T c.559+1969G>T (n.559+1969G>T) c.666G>T (p.Leu222=) c.933G>T (p.Leu311=) c.891G>T (p.Leu297=) c.789G>T (p.Leu263=) c.763-10G>T (n.763-10G>T) c.594G>T (p.Leu198=) | |
| 1 | g.173909895C>G | CA421942787 | SERPINC1 | c.810G>C (p.Leu270=) n.461G>C c.559+1969G>C (n.559+1969G>C) c.666G>C (p.Leu222=) c.933G>C (p.Leu311=) c.891G>C (p.Leu297=) c.789G>C (p.Leu263=) c.763-10G>C (n.763-10G>C) c.594G>C (p.Leu198=) | |
| 1 | g.173909895C>T | CA421942786 | SERPINC1 | c.810G>A (p.Leu270=) n.461G>A c.559+1969G>A (n.559+1969G>A) c.666G>A (p.Leu222=) c.933G>A (p.Leu311=) c.891G>A (p.Leu297=) c.789G>A (p.Leu263=) c.763-10G>A (n.763-10G>A) c.594G>A (p.Leu198=) | gnomAD v4 |
| 1 | g.173909896del | CA2586964407 | SERPINC1 | c.809del (p.Leu270ArgfsTer14) n.460del c.559+1968del (n.559+1968del) c.665del (p.Leu222ArgfsTer14) c.932del (p.Leu311ArgfsTer14) c.890del (p.Leu297ArgfsTer14) c.788del (p.Leu263ArgfsTer14) c.763-11del (n.763-11del) c.593del (p.Leu198ArgfsTer14) | |
| 1 | g.173909896A= | CA1207937040 | SERPINC1 | c.809T= (p.Leu270=) n.460T= c.559+1968T= (n.559+1968T=) c.665T= (p.Leu222=) c.932T= (p.Leu311=) c.890T= (p.Leu297=) c.788T= (p.Leu263=) c.763-11T= (n.763-11T=) c.593T= (p.Leu198=) | |
| 1 | g.173909896A>C | CA343774715 | SERPINC1 | c.809T>G (p.Leu270Arg) n.460T>G c.559+1968T>G (n.559+1968T>G) c.665T>G (p.Leu222Arg) c.932T>G (p.Leu311Arg) c.890T>G (p.Leu297Arg) c.788T>G (p.Leu263Arg) c.763-11T>G (n.763-11T>G) c.593T>G (p.Leu198Arg) | |
| 1 | g.173909896A>G | CA343774718 | SERPINC1 | c.809T>C (p.Leu270Pro) n.460T>C c.559+1968T>C (n.559+1968T>C) c.665T>C (p.Leu222Pro) c.932T>C (p.Leu311Pro) c.890T>C (p.Leu297Pro) c.788T>C (p.Leu263Pro) c.763-11T>C (n.763-11T>C) c.593T>C (p.Leu198Pro) | dbSNP |
| 1 | g.173909896A>T | CA343774717 | SERPINC1 | c.809T>A (p.Leu270Gln) n.460T>A c.559+1968T>A (n.559+1968T>A) c.665T>A (p.Leu222Gln) c.932T>A (p.Leu311Gln) c.890T>A (p.Leu297Gln) c.788T>A (p.Leu263Gln) c.763-11T>A (n.763-11T>A) c.593T>A (p.Leu198Gln) | |
| 1 | g.173909897G>A | CA1251331 | SERPINC1 | c.808C>T (p.Leu270=) n.459C>T c.559+1967C>T (n.559+1967C>T) c.664C>T (p.Leu222=) c.931C>T (p.Leu311=) c.889C>T (p.Leu297=) c.787C>T (p.Leu263=) c.763-12C>T (n.763-12C>T) c.592C>T (p.Leu198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909897G>C | CA343774721 | SERPINC1 | c.808C>G (p.Leu270Val) n.459C>G c.559+1967C>G (n.559+1967C>G) c.664C>G (p.Leu222Val) c.931C>G (p.Leu311Val) c.889C>G (p.Leu297Val) c.787C>G (p.Leu263Val) c.763-12C>G (n.763-12C>G) c.592C>G (p.Leu198Val) | |
| 1 | g.173909897G= | CA1141670581 | SERPINC1 | c.808C= (p.Leu270=) n.459C= c.559+1967C= (n.559+1967C=) c.664C= (p.Leu222=) c.931C= (p.Leu311=) c.889C= (p.Leu297=) c.787C= (p.Leu263=) c.763-12C= (n.763-12C=) c.592C= (p.Leu198=) | |
| 1 | g.173909897G>T | CA343774722 | SERPINC1 | c.808C>A (p.Leu270Met) n.459C>A c.559+1967C>A (n.559+1967C>A) c.664C>A (p.Leu222Met) c.931C>A (p.Leu311Met) c.889C>A (p.Leu297Met) c.787C>A (p.Leu263Met) c.763-12C>A (n.763-12C>A) c.592C>A (p.Leu198Met) | gnomAD v4 |
| 1 | g.173909898T>A | CA343774723 | SERPINC1 | c.807A>T (p.Glu269Asp) n.458A>T c.559+1966A>T (n.559+1966A>T) c.663A>T (p.Glu221Asp) c.930A>T (p.Glu310Asp) c.888A>T (p.Glu296Asp) c.786A>T (p.Glu262Asp) c.763-13A>T (n.763-13A>T) c.591A>T (p.Glu197Asp) | |
| 1 | g.173909898T>C | CA421942788 | SERPINC1 | c.807A>G (p.Glu269=) n.458A>G c.559+1966A>G (n.559+1966A>G) c.663A>G (p.Glu221=) c.930A>G (p.Glu310=) c.888A>G (p.Glu296=) c.786A>G (p.Glu262=) c.763-13A>G (n.763-13A>G) c.591A>G (p.Glu197=) | |
| 1 | g.173909898T>G | CA343774724 | SERPINC1 | c.807A>C (p.Glu269Asp) n.458A>C c.559+1966A>C (n.559+1966A>C) c.663A>C (p.Glu221Asp) c.930A>C (p.Glu310Asp) c.888A>C (p.Glu296Asp) c.786A>C (p.Glu262Asp) c.763-13A>C (n.763-13A>C) c.591A>C (p.Glu197Asp) | |
| 1 | g.173909904_173909907del | CA2582179132 | SERPINC1 | c.804_807del (p.Lys268AsnfsTer15) n.455_458del c.559+1963_559+1966del (n.559+1963_559+1966del) c.660_663del (p.Lys220AsnfsTer15) c.927_930del (p.Lys309AsnfsTer15) c.885_888del (p.Lys295AsnfsTer15) c.783_786del (p.Lys261AsnfsTer15) c.763-16_763-13del (n.763-16_763-13del) c.588_591del (p.Lys196AsnfsTer15) | |
| 1 | g.173909899T>A | CA343774725 | SERPINC1 | c.806A>T (p.Glu269Val) n.457A>T c.559+1965A>T (n.559+1965A>T) c.662A>T (p.Glu221Val) c.929A>T (p.Glu310Val) c.887A>T (p.Glu296Val) c.785A>T (p.Glu262Val) c.763-14A>T (n.763-14A>T) c.590A>T (p.Glu197Val) | |
| 1 | g.173909899T>C | CA343774726 | SERPINC1 | c.806A>G (p.Glu269Gly) n.457A>G c.559+1965A>G (n.559+1965A>G) c.662A>G (p.Glu221Gly) c.929A>G (p.Glu310Gly) c.887A>G (p.Glu296Gly) c.785A>G (p.Glu262Gly) c.763-14A>G (n.763-14A>G) c.590A>G (p.Glu197Gly) | |
| 1 | g.173909899T>G | CA343774727 | SERPINC1 | c.806A>C (p.Glu269Ala) n.457A>C c.559+1965A>C (n.559+1965A>C) c.662A>C (p.Glu221Ala) c.929A>C (p.Glu310Ala) c.887A>C (p.Glu296Ala) c.785A>C (p.Glu262Ala) c.763-14A>C (n.763-14A>C) c.590A>C (p.Glu197Ala) | |
| 1 | g.173909899_173909904delinsTCCTTC | CA1207937041 | SERPINC1 | c.801_806delinsGAAGGA (p.Arg267=) n.452_457delinsGAAGGA c.559+1960_559+1965delinsGAAGGA (n.559+1960_559+1965delinsGAAGGA) c.657_662delinsGAAGGA (p.Arg219=) c.924_929delinsGAAGGA (p.Arg308=) c.882_887delinsGAAGGA (p.Arg294=) c.780_785delinsGAAGGA (p.Arg260=) c.763-19_763-14delinsGAAGGA (n.763-19_763-14delinsGAAGGA) c.585_590delinsGAAGGA (p.Arg195=) | |
| 1 | g.173909900C>A | CA343774728 | SERPINC1 | c.805G>T (p.Glu269Ter) n.456G>T c.559+1964G>T (n.559+1964G>T) c.661G>T (p.Glu221Ter) c.928G>T (p.Glu310Ter) c.886G>T (p.Glu296Ter) c.784G>T (p.Glu262Ter) c.763-15G>T (n.763-15G>T) c.589G>T (p.Glu197Ter) | |
| 1 | g.173909900C= | CA1207937042 | SERPINC1 | c.805G= (p.Glu269=) n.456G= c.559+1964G= (n.559+1964G=) c.661G= (p.Glu221=) c.928G= (p.Glu310=) c.886G= (p.Glu296=) c.784G= (p.Glu262=) c.763-15G= (n.763-15G=) c.589G= (p.Glu197=) | |
| 1 | g.173909900C>G | CA343774729 | SERPINC1 | c.805G>C (p.Glu269Gln) n.456G>C c.559+1964G>C (n.559+1964G>C) c.661G>C (p.Glu221Gln) c.928G>C (p.Glu310Gln) c.886G>C (p.Glu296Gln) c.784G>C (p.Glu262Gln) c.763-15G>C (n.763-15G>C) c.589G>C (p.Glu197Gln) | |
| 1 | g.173909900C>T | CA1251332 | SERPINC1 | c.805G>A (p.Glu269Lys) n.456G>A c.559+1964G>A (n.559+1964G>A) c.661G>A (p.Glu221Lys) c.928G>A (p.Glu310Lys) c.886G>A (p.Glu296Lys) c.784G>A (p.Glu262Lys) c.763-15G>A (n.763-15G>A) c.589G>A (p.Glu197Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909901del | CA2586964408 | SERPINC1 | c.805del (p.Glu269AsnfsTer15) n.456del c.559+1964del (n.559+1964del) c.661del (p.Glu221AsnfsTer15) c.928del (p.Glu310AsnfsTer15) c.886del (p.Glu296AsnfsTer15) c.784del (p.Glu262AsnfsTer15) c.763-15del (n.763-15del) c.589del (p.Glu197AsnfsTer15) | |
| 1 | g.173909901_173909905del | CA915943670 | SERPINC1 | c.801_805del (p.Lys268ThrfsTer6) n.452_456del c.559+1960_559+1964del (n.559+1960_559+1964del) c.657_661del (p.Lys220ThrfsTer6) c.924_928del (p.Lys309ThrfsTer6) c.882_886del (p.Lys295ThrfsTer6) c.780_784del (p.Lys261ThrfsTer6) c.763-19_763-15del (n.763-19_763-15del) c.585_589del (p.Lys196ThrfsTer6) | ClinVar dbSNP |
| 1 | g.173909901C>A | CA343774730 | SERPINC1 | c.804G>T (p.Lys268Asn) n.455G>T c.559+1963G>T (n.559+1963G>T) c.660G>T (p.Lys220Asn) c.927G>T (p.Lys309Asn) c.885G>T (p.Lys295Asn) c.783G>T (p.Lys261Asn) c.763-16G>T (n.763-16G>T) c.588G>T (p.Lys196Asn) | |
| 1 | g.173909901C>G | CA343774731 | SERPINC1 | c.804G>C (p.Lys268Asn) n.455G>C c.559+1963G>C (n.559+1963G>C) c.660G>C (p.Lys220Asn) c.927G>C (p.Lys309Asn) c.885G>C (p.Lys295Asn) c.783G>C (p.Lys261Asn) c.763-16G>C (n.763-16G>C) c.588G>C (p.Lys196Asn) | |
| 1 | g.173909901C>T | CA421942791 | SERPINC1 | c.804G>A (p.Lys268=) n.455G>A c.559+1963G>A (n.559+1963G>A) c.660G>A (p.Lys220=) c.927G>A (p.Lys309=) c.885G>A (p.Lys295=) c.783G>A (p.Lys261=) c.763-16G>A (n.763-16G>A) c.588G>A (p.Lys196=) | |
| 1 | g.173909902T>A | CA343774732 | SERPINC1 | c.803A>T (p.Lys268Met) n.454A>T c.559+1962A>T (n.559+1962A>T) c.659A>T (p.Lys220Met) c.926A>T (p.Lys309Met) c.884A>T (p.Lys295Met) c.782A>T (p.Lys261Met) c.763-17A>T (n.763-17A>T) c.587A>T (p.Lys196Met) | |
| 1 | g.173909902T>C | CA343774734 | SERPINC1 | c.803A>G (p.Lys268Arg) n.454A>G c.559+1962A>G (n.559+1962A>G) c.659A>G (p.Lys220Arg) c.926A>G (p.Lys309Arg) c.884A>G (p.Lys295Arg) c.782A>G (p.Lys261Arg) c.763-17A>G (n.763-17A>G) c.587A>G (p.Lys196Arg) | |
| 1 | g.173909902T>G | CA343774733 | SERPINC1 | c.803A>C (p.Lys268Thr) n.454A>C c.559+1962A>C (n.559+1962A>C) c.659A>C (p.Lys220Thr) c.926A>C (p.Lys309Thr) c.884A>C (p.Lys295Thr) c.782A>C (p.Lys261Thr) c.763-17A>C (n.763-17A>C) c.587A>C (p.Lys196Thr) | |
| 1 | g.173909903T>A | CA343774735 | SERPINC1 | c.802A>T (p.Lys268Ter) n.453A>T c.559+1961A>T (n.559+1961A>T) c.658A>T (p.Lys220Ter) c.925A>T (p.Lys309Ter) c.883A>T (p.Lys295Ter) c.781A>T (p.Lys261Ter) c.763-18A>T (n.763-18A>T) c.586A>T (p.Lys196Ter) | |
| 1 | g.173909903T>C | CA343774736 | SERPINC1 | c.802A>G (p.Lys268Glu) n.453A>G c.559+1961A>G (n.559+1961A>G) c.658A>G (p.Lys220Glu) c.925A>G (p.Lys309Glu) c.883A>G (p.Lys295Glu) c.781A>G (p.Lys261Glu) c.763-18A>G (n.763-18A>G) c.586A>G (p.Lys196Glu) | |
| 1 | g.173909903T>G | CA343774737 | SERPINC1 | c.802A>C (p.Lys268Gln) n.453A>C c.559+1961A>C (n.559+1961A>C) c.658A>C (p.Lys220Gln) c.925A>C (p.Lys309Gln) c.883A>C (p.Lys295Gln) c.781A>C (p.Lys261Gln) c.763-18A>C (n.763-18A>C) c.586A>C (p.Lys196Gln) | |
| 1 | g.173909904C>A | CA343774738 | SERPINC1 | c.801G>T (p.Arg267Ser) n.452G>T c.559+1960G>T (n.559+1960G>T) c.657G>T (p.Arg219Ser) c.924G>T (p.Arg308Ser) c.882G>T (p.Arg294Ser) c.780G>T (p.Arg260Ser) c.763-19G>T (n.763-19G>T) c.585G>T (p.Arg195Ser) | |
| 1 | g.173909904C>G | CA343774739 | SERPINC1 | c.801G>C (p.Arg267Ser) n.452G>C c.559+1960G>C (n.559+1960G>C) c.657G>C (p.Arg219Ser) c.924G>C (p.Arg308Ser) c.882G>C (p.Arg294Ser) c.780G>C (p.Arg260Ser) c.763-19G>C (n.763-19G>C) c.585G>C (p.Arg195Ser) | |
| 1 | g.173909904C>T | CA421942793 | SERPINC1 | c.801G>A (p.Arg267=) n.452G>A c.559+1960G>A (n.559+1960G>A) c.657G>A (p.Arg219=) c.924G>A (p.Arg308=) c.882G>A (p.Arg294=) c.780G>A (p.Arg260=) c.763-19G>A (n.763-19G>A) c.585G>A (p.Arg195=) | |
| 1 | g.173909905C>A | CA343774740 | SERPINC1 | c.800G>T (p.Arg267Met) n.451G>T c.559+1959G>T (n.559+1959G>T) c.656G>T (p.Arg219Met) c.923G>T (p.Arg308Met) c.881G>T (p.Arg294Met) c.779G>T (p.Arg260Met) c.763-20G>T (n.763-20G>T) c.584G>T (p.Arg195Met) | |
| 1 | g.173909905C>G | CA343774741 | SERPINC1 | c.800G>C (p.Arg267Thr) n.451G>C c.559+1959G>C (n.559+1959G>C) c.656G>C (p.Arg219Thr) c.923G>C (p.Arg308Thr) c.881G>C (p.Arg294Thr) c.779G>C (p.Arg260Thr) c.763-20G>C (n.763-20G>C) c.584G>C (p.Arg195Thr) | |
| 1 | g.173909905C>T | CA343774742 | SERPINC1 | c.800G>A (p.Arg267Lys) n.451G>A c.559+1959G>A (n.559+1959G>A) c.656G>A (p.Arg219Lys) c.923G>A (p.Arg308Lys) c.881G>A (p.Arg294Lys) c.779G>A (p.Arg260Lys) c.763-20G>A (n.763-20G>A) c.584G>A (p.Arg195Lys) | |
| 1 | g.173909906T>A | CA343774743 | SERPINC1 | c.799A>T (p.Arg267Trp) n.450A>T c.559+1958A>T (n.559+1958A>T) c.655A>T (p.Arg219Trp) c.922A>T (p.Arg308Trp) c.880A>T (p.Arg294Trp) c.778A>T (p.Arg260Trp) c.763-21A>T (n.763-21A>T) c.583A>T (p.Arg195Trp) | |
| 1 | g.173909906T>C | CA343774744 | SERPINC1 | c.799A>G (p.Arg267Gly) n.450A>G c.559+1958A>G (n.559+1958A>G) c.655A>G (p.Arg219Gly) c.922A>G (p.Arg308Gly) c.880A>G (p.Arg294Gly) c.778A>G (p.Arg260Gly) c.763-21A>G (n.763-21A>G) c.583A>G (p.Arg195Gly) | gnomAD v4 |
| 1 | g.173909906T>G | CA421942798 | SERPINC1 | c.799A>C (p.Arg267=) n.450A>C c.559+1958A>C (n.559+1958A>C) c.655A>C (p.Arg219=) c.922A>C (p.Arg308=) c.880A>C (p.Arg294=) c.778A>C (p.Arg260=) c.763-21A>C (n.763-21A>C) c.583A>C (p.Arg195=) | |
| 1 | g.173909907T>A | CA421942799 | SERPINC1 | c.798A>T (p.Thr266=) n.449A>T c.559+1957A>T (n.559+1957A>T) c.654A>T (p.Thr218=) c.921A>T (p.Thr307=) c.879A>T (p.Thr293=) c.777A>T (p.Thr259=) c.763-22A>T (n.763-22A>T) c.582A>T (p.Thr194=) | |
| 1 | g.173909907T>C | CA421942800 | SERPINC1 | c.798A>G (p.Thr266=) n.449A>G c.559+1957A>G (n.559+1957A>G) c.654A>G (p.Thr218=) c.921A>G (p.Thr307=) c.879A>G (p.Thr293=) c.777A>G (p.Thr259=) c.763-22A>G (n.763-22A>G) c.582A>G (p.Thr194=) | gnomAD v4 |
| 1 | g.173909907T>G | CA421942801 | SERPINC1 | c.798A>C (p.Thr266=) n.449A>C c.559+1957A>C (n.559+1957A>C) c.654A>C (p.Thr218=) c.921A>C (p.Thr307=) c.879A>C (p.Thr293=) c.777A>C (p.Thr259=) c.763-22A>C (n.763-22A>C) c.582A>C (p.Thr194=) | |
| 1 | g.173909908G>A | CA343774747 | SERPINC1 | c.797C>T (p.Thr266Ile) n.448C>T c.559+1956C>T (n.559+1956C>T) c.653C>T (p.Thr218Ile) c.920C>T (p.Thr307Ile) c.878C>T (p.Thr293Ile) c.776C>T (p.Thr259Ile) c.763-23C>T (n.763-23C>T) c.581C>T (p.Thr194Ile) | |
| 1 | g.173909908G>C | CA343774746 | SERPINC1 | c.797C>G (p.Thr266Arg) n.448C>G c.559+1956C>G (n.559+1956C>G) c.653C>G (p.Thr218Arg) c.920C>G (p.Thr307Arg) c.878C>G (p.Thr293Arg) c.776C>G (p.Thr259Arg) c.763-23C>G (n.763-23C>G) c.581C>G (p.Thr194Arg) | |
| 1 | g.173909908G= | CA1207937043 | SERPINC1 | c.797C= (p.Thr266=) n.448C= c.559+1956C= (n.559+1956C=) c.653C= (p.Thr218=) c.920C= (p.Thr307=) c.878C= (p.Thr293=) c.776C= (p.Thr259=) c.763-23C= (n.763-23C=) c.581C= (p.Thr194=) | |
| 1 | g.173909908G>T | CA343774745 | SERPINC1 | c.797C>A (p.Thr266Lys) n.448C>A c.559+1956C>A (n.559+1956C>A) c.653C>A (p.Thr218Lys) c.920C>A (p.Thr307Lys) c.878C>A (p.Thr293Lys) c.776C>A (p.Thr259Lys) c.763-23C>A (n.763-23C>A) c.581C>A (p.Thr194Lys) | ClinVar dbSNP |
| 1 | g.173909909T>A | CA343774750 | SERPINC1 | c.796A>T (p.Thr266Ser) n.447A>T c.559+1955A>T (n.559+1955A>T) c.652A>T (p.Thr218Ser) c.919A>T (p.Thr307Ser) c.877A>T (p.Thr293Ser) c.775A>T (p.Thr259Ser) c.763-24A>T (n.763-24A>T) c.580A>T (p.Thr194Ser) | |
| 1 | g.173909909T>C | CA343774748 | SERPINC1 | c.796A>G (p.Thr266Ala) n.447A>G c.559+1955A>G (n.559+1955A>G) c.652A>G (p.Thr218Ala) c.919A>G (p.Thr307Ala) c.877A>G (p.Thr293Ala) c.775A>G (p.Thr259Ala) c.763-24A>G (n.763-24A>G) c.580A>G (p.Thr194Ala) | |
| 1 | g.173909909T>G | CA343774749 | SERPINC1 | c.796A>C (p.Thr266Pro) n.447A>C c.559+1955A>C (n.559+1955A>C) c.652A>C (p.Thr218Pro) c.919A>C (p.Thr307Pro) c.877A>C (p.Thr293Pro) c.775A>C (p.Thr259Pro) c.763-24A>C (n.763-24A>C) c.580A>C (p.Thr194Pro) | |
| 1 | g.173909910G>A | CA421942804 | SERPINC1 | c.795C>T (p.Asn265=) n.446C>T c.559+1954C>T (n.559+1954C>T) c.651C>T (p.Asn217=) c.918C>T (p.Asn306=) c.876C>T (p.Asn292=) c.774C>T (p.Asn258=) c.763-25C>T (n.763-25C>T) c.579C>T (p.Asn193=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909910G>C | CA343774751 | SERPINC1 | c.795C>G (p.Asn265Lys) n.446C>G c.559+1954C>G (n.559+1954C>G) c.651C>G (p.Asn217Lys) c.918C>G (p.Asn306Lys) c.876C>G (p.Asn292Lys) c.774C>G (p.Asn258Lys) c.763-25C>G (n.763-25C>G) c.579C>G (p.Asn193Lys) | |
| 1 | g.173909910G= | CA1207937044 | SERPINC1 | c.795C= (p.Asn265=) n.446C= c.559+1954C= (n.559+1954C=) c.651C= (p.Asn217=) c.918C= (p.Asn306=) c.876C= (p.Asn292=) c.774C= (p.Asn258=) c.763-25C= (n.763-25C=) c.579C= (p.Asn193=) | |
| 1 | g.173909910G>T | CA343774752 | SERPINC1 | c.795C>A (p.Asn265Lys) n.446C>A c.559+1954C>A (n.559+1954C>A) c.651C>A (p.Asn217Lys) c.918C>A (p.Asn306Lys) c.876C>A (p.Asn292Lys) c.774C>A (p.Asn258Lys) c.763-25C>A (n.763-25C>A) c.579C>A (p.Asn193Lys) | |
| 1 | g.173909911T>A | CA343774753 | SERPINC1 | c.794A>T (p.Asn265Ile) n.445A>T c.559+1953A>T (n.559+1953A>T) c.650A>T (p.Asn217Ile) c.917A>T (p.Asn306Ile) c.875A>T (p.Asn292Ile) c.773A>T (p.Asn258Ile) c.763-26A>T (n.763-26A>T) c.578A>T (p.Asn193Ile) | |
| 1 | g.173909911T>C | CA343774754 | SERPINC1 | c.794A>G (p.Asn265Ser) n.445A>G c.559+1953A>G (n.559+1953A>G) c.650A>G (p.Asn217Ser) c.917A>G (p.Asn306Ser) c.875A>G (p.Asn292Ser) c.773A>G (p.Asn258Ser) c.763-26A>G (n.763-26A>G) c.578A>G (p.Asn193Ser) | |
| 1 | g.173909911T>G | CA343774755 | SERPINC1 | c.794A>C (p.Asn265Thr) n.445A>C c.559+1953A>C (n.559+1953A>C) c.650A>C (p.Asn217Thr) c.917A>C (p.Asn306Thr) c.875A>C (p.Asn292Thr) c.773A>C (p.Asn258Thr) c.763-26A>C (n.763-26A>C) c.578A>C (p.Asn193Thr) | |
| 1 | g.173909912T>A | CA343774756 | SERPINC1 | c.793A>T (p.Asn265Tyr) n.444A>T c.559+1952A>T (n.559+1952A>T) c.649A>T (p.Asn217Tyr) c.916A>T (p.Asn306Tyr) c.874A>T (p.Asn292Tyr) c.772A>T (p.Asn258Tyr) c.763-27A>T (n.763-27A>T) c.577A>T (p.Asn193Tyr) | |
| 1 | g.173909912T>C | CA343774757 | SERPINC1 | c.793A>G (p.Asn265Asp) n.444A>G c.559+1952A>G (n.559+1952A>G) c.649A>G (p.Asn217Asp) c.916A>G (p.Asn306Asp) c.874A>G (p.Asn292Asp) c.772A>G (p.Asn258Asp) c.763-27A>G (n.763-27A>G) c.577A>G (p.Asn193Asp) | |
| 1 | g.173909912T>G | CA343774758 | SERPINC1 | c.793A>C (p.Asn265His) n.444A>C c.559+1952A>C (n.559+1952A>C) c.649A>C (p.Asn217His) c.916A>C (p.Asn306His) c.874A>C (p.Asn292His) c.772A>C (p.Asn258His) c.763-27A>C (n.763-27A>C) c.577A>C (p.Asn193His) | |
| 1 | g.173909913C>A | CA343774759 | SERPINC1 | c.792G>T (p.Glu264Asp) n.443G>T c.559+1951G>T (n.559+1951G>T) c.648G>T (p.Glu216Asp) c.915G>T (p.Glu305Asp) c.873G>T (p.Glu291Asp) c.771G>T (p.Glu257Asp) c.763-28G>T (n.763-28G>T) c.576G>T (p.Glu192Asp) | |
| 1 | g.173909913C= | CA1207937045 | SERPINC1 | c.792G= (p.Glu264=) n.443G= c.559+1951G= (n.559+1951G=) c.648G= (p.Glu216=) c.915G= (p.Glu305=) c.873G= (p.Glu291=) c.771G= (p.Glu257=) c.763-28G= (n.763-28G=) c.576G= (p.Glu192=) | |
| 1 | g.173909913C>G | CA343774760 | SERPINC1 | c.792G>C (p.Glu264Asp) n.443G>C c.559+1951G>C (n.559+1951G>C) c.648G>C (p.Glu216Asp) c.915G>C (p.Glu305Asp) c.873G>C (p.Glu291Asp) c.771G>C (p.Glu257Asp) c.763-28G>C (n.763-28G>C) c.576G>C (p.Glu192Asp) | |
| 1 | g.173909913C>T | CA421942808 | SERPINC1 | c.792G>A (p.Glu264=) n.443G>A c.559+1951G>A (n.559+1951G>A) c.648G>A (p.Glu216=) c.915G>A (p.Glu305=) c.873G>A (p.Glu291=) c.771G>A (p.Glu257=) c.763-28G>A (n.763-28G>A) c.576G>A (p.Glu192=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909914T>A | CA343774762 | SERPINC1 | c.791A>T (p.Glu264Val) n.442A>T c.559+1950A>T (n.559+1950A>T) c.647A>T (p.Glu216Val) c.914A>T (p.Glu305Val) c.872A>T (p.Glu291Val) c.770A>T (p.Glu257Val) c.763-29A>T (n.763-29A>T) c.575A>T (p.Glu192Val) | |
| 1 | g.173909914T>C | CA343774763 | SERPINC1 | c.791A>G (p.Glu264Gly) n.442A>G c.559+1950A>G (n.559+1950A>G) c.647A>G (p.Glu216Gly) c.914A>G (p.Glu305Gly) c.872A>G (p.Glu291Gly) c.770A>G (p.Glu257Gly) c.763-29A>G (n.763-29A>G) c.575A>G (p.Glu192Gly) | |
| 1 | g.173909914T>G | CA343774761 | SERPINC1 | c.791A>C (p.Glu264Ala) n.442A>C c.559+1950A>C (n.559+1950A>C) c.647A>C (p.Glu216Ala) c.914A>C (p.Glu305Ala) c.872A>C (p.Glu291Ala) c.770A>C (p.Glu257Ala) c.763-29A>C (n.763-29A>C) c.575A>C (p.Glu192Ala) | |
| 1 | g.173909915C>A | CA343774764 | SERPINC1 | c.790G>T (p.Glu264Ter) n.441G>T c.559+1949G>T (n.559+1949G>T) c.646G>T (p.Glu216Ter) c.913G>T (p.Glu305Ter) c.871G>T (p.Glu291Ter) c.769G>T (p.Glu257Ter) c.763-30G>T (n.763-30G>T) c.574G>T (p.Glu192Ter) | |
| 1 | g.173909915C>G | CA343774765 | SERPINC1 | c.790G>C (p.Glu264Gln) n.441G>C c.559+1949G>C (n.559+1949G>C) c.646G>C (p.Glu216Gln) c.913G>C (p.Glu305Gln) c.871G>C (p.Glu291Gln) c.769G>C (p.Glu257Gln) c.763-30G>C (n.763-30G>C) c.574G>C (p.Glu192Gln) | ClinVar gnomAD v4 |
| 1 | g.173909915C>T | CA343774766 | SERPINC1 | c.790G>A (p.Glu264Lys) n.441G>A c.559+1949G>A (n.559+1949G>A) c.646G>A (p.Glu216Lys) c.913G>A (p.Glu305Lys) c.871G>A (p.Glu291Lys) c.769G>A (p.Glu257Lys) c.763-30G>A (n.763-30G>A) c.574G>A (p.Glu192Lys) | gnomAD v4 |
| 1 | g.173909916A>C | CA421942812 | SERPINC1 | c.789T>G (p.Pro263=) n.440T>G c.559+1948T>G (n.559+1948T>G) c.645T>G (p.Pro215=) c.912T>G (p.Pro304=) c.870T>G (p.Pro290=) c.768T>G (p.Pro256=) c.763-31T>G (n.763-31T>G) c.573T>G (p.Pro191=) | |
| 1 | g.173909916A>G | CA421942813 | SERPINC1 | c.789T>C (p.Pro263=) n.440T>C c.559+1948T>C (n.559+1948T>C) c.645T>C (p.Pro215=) c.912T>C (p.Pro304=) c.870T>C (p.Pro290=) c.768T>C (p.Pro256=) c.763-31T>C (n.763-31T>C) c.573T>C (p.Pro191=) | |
| 1 | g.173909916A>T | CA421942814 | SERPINC1 | c.789T>A (p.Pro263=) n.440T>A c.559+1948T>A (n.559+1948T>A) c.645T>A (p.Pro215=) c.912T>A (p.Pro304=) c.870T>A (p.Pro290=) c.768T>A (p.Pro256=) c.763-31T>A (n.763-31T>A) c.573T>A (p.Pro191=) | |
| 1 | g.173909917G>A | CA343774767 | SERPINC1 | c.788C>T (p.Pro263Leu) n.439C>T c.559+1947C>T (n.559+1947C>T) c.644C>T (p.Pro215Leu) c.911C>T (p.Pro304Leu) c.869C>T (p.Pro290Leu) c.767C>T (p.Pro256Leu) c.763-32C>T (n.763-32C>T) c.572C>T (p.Pro191Leu) | gnomAD v4 |
| 1 | g.173909917G>C | CA343774768 | SERPINC1 | c.788C>G (p.Pro263Arg) n.439C>G c.559+1947C>G (n.559+1947C>G) c.644C>G (p.Pro215Arg) c.911C>G (p.Pro304Arg) c.869C>G (p.Pro290Arg) c.767C>G (p.Pro256Arg) c.763-32C>G (n.763-32C>G) c.572C>G (p.Pro191Arg) | |
| 1 | g.173909917G>T | CA343774769 | SERPINC1 | c.788C>A (p.Pro263His) n.439C>A c.559+1947C>A (n.559+1947C>A) c.644C>A (p.Pro215His) c.911C>A (p.Pro304His) c.869C>A (p.Pro290His) c.767C>A (p.Pro256His) c.763-32C>A (n.763-32C>A) c.572C>A (p.Pro191His) | |
| 1 | g.173909919del | CA2586964409 | SERPINC1 | c.788del (p.Pro263LeufsTer21) n.439del c.559+1947del (n.559+1947del) c.644del (p.Pro215LeufsTer21) c.911del (p.Pro304LeufsTer21) c.869del (p.Pro290LeufsTer21) c.767del (p.Pro256LeufsTer21) c.763-32del (n.763-32del) c.572del (p.Pro191LeufsTer21) | |
| 1 | g.173909918G>A | CA343774770 | SERPINC1 | c.787C>T (p.Pro263Ser) n.438C>T c.559+1946C>T (n.559+1946C>T) c.643C>T (p.Pro215Ser) c.910C>T (p.Pro304Ser) c.868C>T (p.Pro290Ser) c.766C>T (p.Pro256Ser) c.763-33C>T (n.763-33C>T) c.571C>T (p.Pro191Ser) | |
| 1 | g.173909918G>C | CA343774772 | SERPINC1 | c.787C>G (p.Pro263Ala) n.438C>G c.559+1946C>G (n.559+1946C>G) c.643C>G (p.Pro215Ala) c.910C>G (p.Pro304Ala) c.868C>G (p.Pro290Ala) c.766C>G (p.Pro256Ala) c.763-33C>G (n.763-33C>G) c.571C>G (p.Pro191Ala) | |
| 1 | g.173909918G>T | CA343774771 | SERPINC1 | c.787C>A (p.Pro263Thr) n.438C>A c.559+1946C>A (n.559+1946C>A) c.643C>A (p.Pro215Thr) c.910C>A (p.Pro304Thr) c.868C>A (p.Pro290Thr) c.766C>A (p.Pro256Thr) c.763-33C>A (n.763-33C>A) c.571C>A (p.Pro191Thr) | |
| 1 | g.173909919G>A | CA421942818 | SERPINC1 | c.786C>T (p.Ser262=) n.437C>T c.559+1945C>T (n.559+1945C>T) c.642C>T (p.Ser214=) c.909C>T (p.Ser303=) c.867C>T (p.Ser289=) c.765C>T (p.Ser255=) c.763-34C>T (n.763-34C>T) c.570C>T (p.Ser190=) | gnomAD v4 |
| 1 | g.173909919G>C | CA343774773 | SERPINC1 | c.786C>G (p.Ser262Arg) n.437C>G c.559+1945C>G (n.559+1945C>G) c.642C>G (p.Ser214Arg) c.909C>G (p.Ser303Arg) c.867C>G (p.Ser289Arg) c.765C>G (p.Ser255Arg) c.763-34C>G (n.763-34C>G) c.570C>G (p.Ser190Arg) | |
| 1 | g.173909919G>T | CA343774774 | SERPINC1 | c.786C>A (p.Ser262Arg) n.437C>A c.559+1945C>A (n.559+1945C>A) c.642C>A (p.Ser214Arg) c.909C>A (p.Ser303Arg) c.867C>A (p.Ser289Arg) c.765C>A (p.Ser255Arg) c.763-34C>A (n.763-34C>A) c.570C>A (p.Ser190Arg) | |
| 1 | g.173909920C>A | CA343774775 | SERPINC1 | c.785G>T (p.Ser262Ile) n.436G>T c.559+1944G>T (n.559+1944G>T) c.641G>T (p.Ser214Ile) c.908G>T (p.Ser303Ile) c.866G>T (p.Ser289Ile) c.764G>T (p.Ser255Ile) c.763-35G>T (n.763-35G>T) c.569G>T (p.Ser190Ile) | |
| 1 | g.173909920C>G | CA343774776 | SERPINC1 | c.785G>C (p.Ser262Thr) n.436G>C c.559+1944G>C (n.559+1944G>C) c.641G>C (p.Ser214Thr) c.908G>C (p.Ser303Thr) c.866G>C (p.Ser289Thr) c.764G>C (p.Ser255Thr) c.763-35G>C (n.763-35G>C) c.569G>C (p.Ser190Thr) | |
| 1 | g.173909920C>T | CA343774777 | SERPINC1 | c.785G>A (p.Ser262Asn) n.436G>A c.559+1944G>A (n.559+1944G>A) c.641G>A (p.Ser214Asn) c.908G>A (p.Ser303Asn) c.866G>A (p.Ser289Asn) c.764G>A (p.Ser255Asn) c.763-35G>A (n.763-35G>A) c.569G>A (p.Ser190Asn) | |
| 1 | g.173909921T>A | CA343774779 | SERPINC1 | c.784A>T (p.Ser262Cys) n.435A>T c.559+1943A>T (n.559+1943A>T) c.640A>T (p.Ser214Cys) c.907A>T (p.Ser303Cys) c.865A>T (p.Ser289Cys) c.763A>T (p.Ser255Cys) c.763-36A>T (n.763-36A>T) c.568A>T (p.Ser190Cys) | |
| 1 | g.173909921T>C | CA1251333 | SERPINC1 | c.784A>G (p.Ser262Gly) n.435A>G c.559+1943A>G (n.559+1943A>G) c.640A>G (p.Ser214Gly) c.907A>G (p.Ser303Gly) c.865A>G (p.Ser289Gly) c.763A>G (p.Ser255Gly) c.763-36A>G (n.763-36A>G) c.568A>G (p.Ser190Gly) | dbSNP ExAC gnomAD v2 |
| 1 | g.173909921T>G | CA343774778 | SERPINC1 | c.784A>C (p.Ser262Arg) n.435A>C c.559+1943A>C (n.559+1943A>C) c.640A>C (p.Ser214Arg) c.907A>C (p.Ser303Arg) c.865A>C (p.Ser289Arg) c.763A>C (p.Ser255Arg) c.763-36A>C (n.763-36A>C) c.568A>C (p.Ser190Arg) | |
| 1 | g.173909921T= | CA1207937046 | SERPINC1 | c.784A= (p.Ser262=) n.435A= c.559+1943A= (n.559+1943A=) c.640A= (p.Ser214=) c.907A= (p.Ser303=) c.865A= (p.Ser289=) c.763A= (p.Ser255=) c.763-36A= (n.763-36A=) c.568A= (p.Ser190=) | |
| 1 | g.173909922G>A | CA421942819 | SERPINC1 | c.783C>T (p.Phe261=) n.434C>T c.559+1942C>T (n.559+1942C>T) c.639C>T (p.Phe213=) c.906C>T (p.Phe302=) c.864C>T (p.Phe288=) c.762C>T (p.Phe254=) c.763-37C>T (n.763-37C>T) c.567C>T (p.Phe189=) | |
| 1 | g.173909922G>C | CA343774780 | SERPINC1 | c.783C>G (p.Phe261Leu) n.434C>G c.559+1942C>G (n.559+1942C>G) c.639C>G (p.Phe213Leu) c.906C>G (p.Phe302Leu) c.864C>G (p.Phe288Leu) c.762C>G (p.Phe254Leu) c.763-37C>G (n.763-37C>G) c.567C>G (p.Phe189Leu) | |
| 1 | g.173909922G>T | CA343774781 | SERPINC1 | c.783C>A (p.Phe261Leu) n.434C>A c.559+1942C>A (n.559+1942C>A) c.639C>A (p.Phe213Leu) c.906C>A (p.Phe302Leu) c.864C>A (p.Phe288Leu) c.762C>A (p.Phe254Leu) c.763-37C>A (n.763-37C>A) c.567C>A (p.Phe189Leu) | |
| 1 | g.173909923A>C | CA343774782 | SERPINC1 | c.782T>G (p.Phe261Cys) n.433T>G c.559+1941T>G (n.559+1941T>G) c.638T>G (p.Phe213Cys) c.905T>G (p.Phe302Cys) c.863T>G (p.Phe288Cys) c.761T>G (p.Phe254Cys) c.763-38T>G (n.763-38T>G) c.566T>G (p.Phe189Cys) | |
| 1 | g.173909923A>G | CA343774783 | SERPINC1 | c.782T>C (p.Phe261Ser) n.433T>C c.559+1941T>C (n.559+1941T>C) c.638T>C (p.Phe213Ser) c.905T>C (p.Phe302Ser) c.863T>C (p.Phe288Ser) c.761T>C (p.Phe254Ser) c.763-38T>C (n.763-38T>C) c.566T>C (p.Phe189Ser) | |
| 1 | g.173909923A>T | CA343774784 | SERPINC1 | c.782T>A (p.Phe261Tyr) n.433T>A c.559+1941T>A (n.559+1941T>A) c.638T>A (p.Phe213Tyr) c.905T>A (p.Phe302Tyr) c.863T>A (p.Phe288Tyr) c.761T>A (p.Phe254Tyr) c.763-38T>A (n.763-38T>A) c.566T>A (p.Phe189Tyr) | |
| 1 | g.173909924A>C | CA343774785 | SERPINC1 | c.781T>G (p.Phe261Val) n.432T>G c.559+1940T>G (n.559+1940T>G) c.637T>G (p.Phe213Val) c.904T>G (p.Phe302Val) c.862T>G (p.Phe288Val) c.760T>G (p.Phe254Val) c.763-39T>G (n.763-39T>G) c.565T>G (p.Phe189Val) | |
| 1 | g.173909924A>G | CA343774786 | SERPINC1 | c.781T>C (p.Phe261Leu) n.432T>C c.559+1940T>C (n.559+1940T>C) c.637T>C (p.Phe213Leu) c.904T>C (p.Phe302Leu) c.862T>C (p.Phe288Leu) c.760T>C (p.Phe254Leu) c.763-39T>C (n.763-39T>C) c.565T>C (p.Phe189Leu) | COSMIC |
| 1 | g.173909924A>T | CA343774787 | SERPINC1 | c.781T>A (p.Phe261Ile) n.432T>A c.559+1940T>A (n.559+1940T>A) c.637T>A (p.Phe213Ile) c.904T>A (p.Phe302Ile) c.862T>A (p.Phe288Ile) c.760T>A (p.Phe254Ile) c.763-39T>A (n.763-39T>A) c.565T>A (p.Phe189Ile) | |
| 1 | g.173909925C>A | CA343774788 | SERPINC1 | c.780G>T (p.Lys260Asn) n.431G>T c.559+1939G>T (n.559+1939G>T) c.636G>T (p.Lys212Asn) c.903G>T (p.Lys301Asn) c.861G>T (p.Lys287Asn) c.759G>T (p.Lys253Asn) c.763-40G>T (n.763-40G>T) c.564G>T (p.Lys188Asn) | |
| 1 | g.173909925C= | CA1207937047 | SERPINC1 | c.780G= (p.Lys260=) n.431G= c.559+1939G= (n.559+1939G=) c.636G= (p.Lys212=) c.903G= (p.Lys301=) c.861G= (p.Lys287=) c.759G= (p.Lys253=) c.763-40G= (n.763-40G=) c.564G= (p.Lys188=) | |
| 1 | g.173909925C>G | CA343774789 | SERPINC1 | c.780G>C (p.Lys260Asn) n.431G>C c.559+1939G>C (n.559+1939G>C) c.636G>C (p.Lys212Asn) c.903G>C (p.Lys301Asn) c.861G>C (p.Lys287Asn) c.759G>C (p.Lys253Asn) c.763-40G>C (n.763-40G>C) c.564G>C (p.Lys188Asn) | |
| 1 | g.173909925C>T | CA421942821 | SERPINC1 | c.780G>A (p.Lys260=) n.431G>A c.559+1939G>A (n.559+1939G>A) c.636G>A (p.Lys212=) c.903G>A (p.Lys301=) c.861G>A (p.Lys287=) c.759G>A (p.Lys253=) c.763-40G>A (n.763-40G>A) c.564G>A (p.Lys188=) | |
| 1 | g.173909926T>A | CA343774790 | SERPINC1 | c.779A>T (p.Lys260Met) n.430A>T c.559+1938A>T (n.559+1938A>T) c.635A>T (p.Lys212Met) c.902A>T (p.Lys301Met) c.860A>T (p.Lys287Met) c.758A>T (p.Lys253Met) c.763-41A>T (n.763-41A>T) c.563A>T (p.Lys188Met) | |
| 1 | g.173909926T>C | CA343774791 | SERPINC1 | c.779A>G (p.Lys260Arg) n.430A>G c.559+1938A>G (n.559+1938A>G) c.635A>G (p.Lys212Arg) c.902A>G (p.Lys301Arg) c.860A>G (p.Lys287Arg) c.758A>G (p.Lys253Arg) c.763-41A>G (n.763-41A>G) c.563A>G (p.Lys188Arg) | gnomAD v4 |
| 1 | g.173909926T>G | CA343774792 | SERPINC1 | c.779A>C (p.Lys260Thr) n.430A>C c.559+1938A>C (n.559+1938A>C) c.635A>C (p.Lys212Thr) c.902A>C (p.Lys301Thr) c.860A>C (p.Lys287Thr) c.758A>C (p.Lys253Thr) c.763-41A>C (n.763-41A>C) c.563A>C (p.Lys188Thr) | |
| 1 | g.173909928dup | CA913184807 | SERPINC1 | c.779dup (p.Phe261ValfsTer4) n.430dup c.559+1938dup (n.559+1938dup) c.635dup (p.Phe213ValfsTer4) c.902dup (p.Phe302ValfsTer4) c.860dup (p.Phe288ValfsTer4) c.758dup (p.Phe254ValfsTer4) c.763-41dup (n.763-41dup) c.563dup (p.Phe189ValfsTer4) | ClinVar dbSNP |
| 1 | g.173909927_173909928dup | CA2649174147 | SERPINC1 | c.778_779dup (p.Phe261SerfsTer24) n.429_430dup c.559+1937_559+1938dup (n.559+1937_559+1938dup) c.634_635dup (p.Phe213SerfsTer24) c.901_902dup (p.Phe302SerfsTer24) c.859_860dup (p.Phe288SerfsTer24) c.757_758dup (p.Phe254SerfsTer24) c.763-42_763-41dup (n.763-42_763-41dup) c.562_563dup (p.Phe189SerfsTer24) | gnomAD v4 |
| 1 | g.173909927T>A | CA343774795 | SERPINC1 | c.778A>T (p.Lys260Ter) n.429A>T c.559+1937A>T (n.559+1937A>T) c.634A>T (p.Lys212Ter) c.901A>T (p.Lys301Ter) c.859A>T (p.Lys287Ter) c.757A>T (p.Lys253Ter) c.763-42A>T (n.763-42A>T) c.562A>T (p.Lys188Ter) | ClinVar |
| 1 | g.173909927T>C | CA343774794 | SERPINC1 | c.778A>G (p.Lys260Glu) n.429A>G c.559+1937A>G (n.559+1937A>G) c.634A>G (p.Lys212Glu) c.901A>G (p.Lys301Glu) c.859A>G (p.Lys287Glu) c.757A>G (p.Lys253Glu) c.763-42A>G (n.763-42A>G) c.562A>G (p.Lys188Glu) | |
| 1 | g.173909927T>G | CA343774793 | SERPINC1 | c.778A>C (p.Lys260Gln) n.429A>C c.559+1937A>C (n.559+1937A>C) c.634A>C (p.Lys212Gln) c.901A>C (p.Lys301Gln) c.859A>C (p.Lys287Gln) c.757A>C (p.Lys253Gln) c.763-42A>C (n.763-42A>C) c.562A>C (p.Lys188Gln) | |
| 1 | g.173909928_173909929insCTT | CA2586964410 | SERPINC1 | c.778_779insGAA (p.Ser259_Lys260insArg) n.429_430insGAA c.559+1937_559+1938insGAA (n.559+1937_559+1938insGAA) c.634_635insGAA (p.Ser211_Lys212insArg) c.901_902insGAA (p.Ser300_Lys301insArg) c.859_860insGAA (p.Ser286_Lys287insArg) c.757_758insGAA (p.Ser252_Lys253insArg) c.763-42_763-41insGAA (n.763-42_763-41insGAA) c.562_563insGAA (p.Ser187_Lys188insArg) | |
| 1 | g.173909928T>A | CA421942823 | SERPINC1 | c.777A>T (p.Ser259=) n.428A>T c.559+1936A>T (n.559+1936A>T) c.633A>T (p.Ser211=) c.900A>T (p.Ser300=) c.858A>T (p.Ser286=) c.756A>T (p.Ser252=) c.763-43A>T (n.763-43A>T) c.561A>T (p.Ser187=) | |
| 1 | g.173909928T>C | CA1251334 | SERPINC1 | c.777A>G (p.Ser259=) n.428A>G c.559+1936A>G (n.559+1936A>G) c.633A>G (p.Ser211=) c.900A>G (p.Ser300=) c.858A>G (p.Ser286=) c.756A>G (p.Ser252=) c.763-43A>G (n.763-43A>G) c.561A>G (p.Ser187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909928T>G | CA421942824 | SERPINC1 | c.777A>C (p.Ser259=) n.428A>C c.559+1936A>C (n.559+1936A>C) c.633A>C (p.Ser211=) c.900A>C (p.Ser300=) c.858A>C (p.Ser286=) c.756A>C (p.Ser252=) c.763-43A>C (n.763-43A>C) c.561A>C (p.Ser187=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173909928T= | CA1148426553 | SERPINC1 | c.777A= (p.Ser259=) n.428A= c.559+1936A= (n.559+1936A=) c.633A= (p.Ser211=) c.900A= (p.Ser300=) c.858A= (p.Ser286=) c.756A= (p.Ser252=) c.763-43A= (n.763-43A=) c.561A= (p.Ser187=) | |
| 1 | g.173909929G>A | CA343774796 | SERPINC1 | c.776C>T (p.Ser259Leu) n.427C>T c.559+1935C>T (n.559+1935C>T) c.632C>T (p.Ser211Leu) c.899C>T (p.Ser300Leu) c.857C>T (p.Ser286Leu) c.755C>T (p.Ser252Leu) c.763-44C>T (n.763-44C>T) c.560C>T (p.Ser187Leu) | dbSNP |
| 1 | g.173909929G>C | CA343774797 | SERPINC1 | c.776C>G (p.Ser259Ter) n.427C>G c.559+1935C>G (n.559+1935C>G) c.632C>G (p.Ser211Ter) c.899C>G (p.Ser300Ter) c.857C>G (p.Ser286Ter) c.755C>G (p.Ser252Ter) c.763-44C>G (n.763-44C>G) c.560C>G (p.Ser187Ter) | COSMIC |
| 1 | g.173909929G>T | CA343774798 | SERPINC1 | c.776C>A (p.Ser259Ter) n.427C>A c.559+1935C>A (n.559+1935C>A) c.632C>A (p.Ser211Ter) c.899C>A (p.Ser300Ter) c.857C>A (p.Ser286Ter) c.755C>A (p.Ser252Ter) c.763-44C>A (n.763-44C>A) c.560C>A (p.Ser187Ter) | |
| 1 | g.173909930A>C | CA343774799 | SERPINC1 | c.775T>G (p.Ser259Ala) n.426T>G c.559+1934T>G (n.559+1934T>G) c.631T>G (p.Ser211Ala) c.898T>G (p.Ser300Ala) c.856T>G (p.Ser286Ala) c.754T>G (p.Ser252Ala) c.763-45T>G (n.763-45T>G) c.559T>G (p.Ser187Ala) | |
| 1 | g.173909930A>G | CA343774800 | SERPINC1 | c.775T>C (p.Ser259Pro) n.426T>C c.559+1934T>C (n.559+1934T>C) c.631T>C (p.Ser211Pro) c.898T>C (p.Ser300Pro) c.856T>C (p.Ser286Pro) c.754T>C (p.Ser252Pro) c.763-45T>C (n.763-45T>C) c.559T>C (p.Ser187Pro) | |
| 1 | g.173909930A>T | CA343774801 | SERPINC1 | c.775T>A (p.Ser259Thr) n.426T>A c.559+1934T>A (n.559+1934T>A) c.631T>A (p.Ser211Thr) c.898T>A (p.Ser300Thr) c.856T>A (p.Ser286Thr) c.754T>A (p.Ser252Thr) c.763-45T>A (n.763-45T>A) c.559T>A (p.Ser187Thr) | |
| 1 | g.173909931C>A | CA343774802 | SERPINC1 | c.774G>T (p.Lys258Asn) n.425G>T c.559+1933G>T (n.559+1933G>T) c.630G>T (p.Lys210Asn) c.897G>T (p.Lys299Asn) c.855G>T (p.Lys285Asn) c.753G>T (p.Lys251Asn) c.763-46G>T (n.763-46G>T) c.558G>T (p.Lys186Asn) | |
| 1 | g.173909931C= | CA1207937048 | SERPINC1 | c.774G= (p.Lys258=) n.425G= c.559+1933G= (n.559+1933G=) c.630G= (p.Lys210=) c.897G= (p.Lys299=) c.855G= (p.Lys285=) c.753G= (p.Lys251=) c.763-46G= (n.763-46G=) c.558G= (p.Lys186=) | |
| 1 | g.173909931C>G | CA343774803 | SERPINC1 | c.774G>C (p.Lys258Asn) n.425G>C c.559+1933G>C (n.559+1933G>C) c.630G>C (p.Lys210Asn) c.897G>C (p.Lys299Asn) c.855G>C (p.Lys285Asn) c.753G>C (p.Lys251Asn) c.763-46G>C (n.763-46G>C) c.558G>C (p.Lys186Asn) | |
| 1 | g.173909931C>T | CA32780452 | SERPINC1 | c.774G>A (p.Lys258=) n.425G>A c.559+1933G>A (n.559+1933G>A) c.630G>A (p.Lys210=) c.897G>A (p.Lys299=) c.855G>A (p.Lys285=) c.753G>A (p.Lys251=) c.763-46G>A (n.763-46G>A) c.558G>A (p.Lys186=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909932T>A | CA343774804 | SERPINC1 | c.773A>T (p.Lys258Met) n.424A>T c.559+1932A>T (n.559+1932A>T) c.629A>T (p.Lys210Met) c.896A>T (p.Lys299Met) c.854A>T (p.Lys285Met) c.752A>T (p.Lys251Met) c.763-47A>T (n.763-47A>T) c.557A>T (p.Lys186Met) | |
| 1 | g.173909932T>C | CA343774805 | SERPINC1 | c.773A>G (p.Lys258Arg) n.424A>G c.559+1932A>G (n.559+1932A>G) c.629A>G (p.Lys210Arg) c.896A>G (p.Lys299Arg) c.854A>G (p.Lys285Arg) c.752A>G (p.Lys251Arg) c.763-47A>G (n.763-47A>G) c.557A>G (p.Lys186Arg) | |
| 1 | g.173909932T>G | CA343774806 | SERPINC1 | c.773A>C (p.Lys258Thr) n.424A>C c.559+1932A>C (n.559+1932A>C) c.629A>C (p.Lys210Thr) c.896A>C (p.Lys299Thr) c.854A>C (p.Lys285Thr) c.752A>C (p.Lys251Thr) c.763-47A>C (n.763-47A>C) c.557A>C (p.Lys186Thr) | |
| 1 | g.173909933T>A | CA343774809 | SERPINC1 | c.772A>T (p.Lys258Ter) n.423A>T c.559+1931A>T (n.559+1931A>T) c.628A>T (p.Lys210Ter) c.895A>T (p.Lys299Ter) c.853A>T (p.Lys285Ter) c.751A>T (p.Lys251Ter) c.763-48A>T (n.763-48A>T) c.556A>T (p.Lys186Ter) | |
| 1 | g.173909933T>C | CA343774808 | SERPINC1 | c.772A>G (p.Lys258Glu) n.423A>G c.559+1931A>G (n.559+1931A>G) c.628A>G (p.Lys210Glu) c.895A>G (p.Lys299Glu) c.853A>G (p.Lys285Glu) c.751A>G (p.Lys251Glu) c.763-48A>G (n.763-48A>G) c.556A>G (p.Lys186Glu) | |
| 1 | g.173909933T>G | CA343774807 | SERPINC1 | c.772A>C (p.Lys258Gln) n.423A>C c.559+1931A>C (n.559+1931A>C) c.628A>C (p.Lys210Gln) c.895A>C (p.Lys299Gln) c.853A>C (p.Lys285Gln) c.751A>C (p.Lys251Gln) c.763-48A>C (n.763-48A>C) c.556A>C (p.Lys186Gln) | |
| 1 | g.173909933_173909934delinsTC | CA1207937049 | SERPINC1 | c.771_772delinsGA (p.Trp257=) n.422_423delinsGA c.559+1930_559+1931delinsGA (n.559+1930_559+1931delinsGA) c.627_628delinsGA (p.Trp209=) c.894_895delinsGA (p.Trp298=) c.852_853delinsGA (p.Trp284=) c.750_751delinsGA (p.Trp250=) c.763-49_763-48delinsGA (n.763-49_763-48delinsGA) c.555_556delinsGA (p.Trp185=) | |
| 1 | g.173909934C>A | CA343774810 | SERPINC1 | c.771G>T (p.Trp257Cys) n.422G>T c.559+1930G>T (n.559+1930G>T) c.627G>T (p.Trp209Cys) c.894G>T (p.Trp298Cys) c.852G>T (p.Trp284Cys) c.750G>T (p.Trp250Cys) c.763-49G>T (n.763-49G>T) c.555G>T (p.Trp185Cys) | |
| 1 | g.173909934C>G | CA343774811 | SERPINC1 | c.771G>C (p.Trp257Cys) n.422G>C c.559+1930G>C (n.559+1930G>C) c.627G>C (p.Trp209Cys) c.894G>C (p.Trp298Cys) c.852G>C (p.Trp284Cys) c.750G>C (p.Trp250Cys) c.763-49G>C (n.763-49G>C) c.555G>C (p.Trp185Cys) | |
| 1 | g.173909934C>T | CA343774812 | SERPINC1 | c.771G>A (p.Trp257Ter) n.422G>A c.559+1930G>A (n.559+1930G>A) c.627G>A (p.Trp209Ter) c.894G>A (p.Trp298Ter) c.852G>A (p.Trp284Ter) c.750G>A (p.Trp250Ter) c.763-49G>A (n.763-49G>A) c.555G>A (p.Trp185Ter) | |
| 1 | g.173909935dup | CA2649174155 | SERPINC1 | c.771dup (p.Lys258GlufsTer7) n.422dup c.559+1930dup (n.559+1930dup) c.627dup (p.Lys210GlufsTer7) c.894dup (p.Lys299GlufsTer7) c.852dup (p.Lys285GlufsTer7) c.750dup (p.Lys251GlufsTer7) c.763-49dup (n.763-49dup) c.555dup (p.Lys186GlufsTer7) | gnomAD v4 |
| 1 | g.173909935del | CA915943671 | SERPINC1 | c.771del (p.Trp257Ter) n.422del c.559+1930del (n.559+1930del) c.627del (p.Trp209Ter) c.894del (p.Trp298Ter) c.852del (p.Trp284Ter) c.750del (p.Trp250Ter) c.763-49del (n.763-49del) c.555del (p.Trp185Ter) | ClinVar dbSNP |
| 1 | g.173909935C>A | CA343774813 | SERPINC1 | c.770G>T (p.Trp257Leu) n.421G>T c.559+1929G>T (n.559+1929G>T) c.626G>T (p.Trp209Leu) c.893G>T (p.Trp298Leu) c.851G>T (p.Trp284Leu) c.749G>T (p.Trp250Leu) c.763-50G>T (n.763-50G>T) c.554G>T (p.Trp185Leu) | |
| 1 | g.173909935C>G | CA343774814 | SERPINC1 | c.770G>C (p.Trp257Ser) n.421G>C c.559+1929G>C (n.559+1929G>C) c.626G>C (p.Trp209Ser) c.893G>C (p.Trp298Ser) c.851G>C (p.Trp284Ser) c.749G>C (p.Trp250Ser) c.763-50G>C (n.763-50G>C) c.554G>C (p.Trp185Ser) | |
| 1 | g.173909935C>T | CA343774815 | SERPINC1 | c.770G>A (p.Trp257Ter) n.421G>A c.559+1929G>A (n.559+1929G>A) c.626G>A (p.Trp209Ter) c.893G>A (p.Trp298Ter) c.851G>A (p.Trp284Ter) c.749G>A (p.Trp250Ter) c.763-50G>A (n.763-50G>A) c.554G>A (p.Trp185Ter) | |
| 1 | g.173909936A>C | CA343774816 | SERPINC1 | c.769T>G (p.Trp257Gly) n.420T>G c.559+1928T>G (n.559+1928T>G) c.625T>G (p.Trp209Gly) c.892T>G (p.Trp298Gly) c.850T>G (p.Trp284Gly) c.748T>G (p.Trp250Gly) c.763-51T>G (n.763-51T>G) c.553T>G (p.Trp185Gly) | |
| 1 | g.173909936A>G | CA343774817 | SERPINC1 | c.769T>C (p.Trp257Arg) n.420T>C c.559+1928T>C (n.559+1928T>C) c.625T>C (p.Trp209Arg) c.892T>C (p.Trp298Arg) c.850T>C (p.Trp284Arg) c.748T>C (p.Trp250Arg) c.763-51T>C (n.763-51T>C) c.553T>C (p.Trp185Arg) | ClinVar |
| 1 | g.173909936A>T | CA343774818 | SERPINC1 | c.769T>A (p.Trp257Arg) n.420T>A c.559+1928T>A (n.559+1928T>A) c.625T>A (p.Trp209Arg) c.892T>A (p.Trp298Arg) c.850T>A (p.Trp284Arg) c.748T>A (p.Trp250Arg) c.763-51T>A (n.763-51T>A) c.553T>A (p.Trp185Arg) | |
| 1 | g.173909937C>A | CA421942830 | SERPINC1 | c.768G>T (p.Leu256=) n.419G>T c.559+1927G>T (n.559+1927G>T) c.624G>T (p.Leu208=) c.891G>T (p.Leu297=) c.849G>T (p.Leu283=) c.747G>T (p.Leu249=) c.763-52G>T (n.763-52G>T) c.552G>T (p.Leu184=) | |
| 1 | g.173909937C>G | CA421942833 | SERPINC1 | c.768G>C (p.Leu256=) n.419G>C c.559+1927G>C (n.559+1927G>C) c.624G>C (p.Leu208=) c.891G>C (p.Leu297=) c.849G>C (p.Leu283=) c.747G>C (p.Leu249=) c.763-52G>C (n.763-52G>C) c.552G>C (p.Leu184=) | |
| 1 | g.173909937C>T | CA421942831 | SERPINC1 | c.768G>A (p.Leu256=) n.419G>A c.559+1927G>A (n.559+1927G>A) c.624G>A (p.Leu208=) c.891G>A (p.Leu297=) c.849G>A (p.Leu283=) c.747G>A (p.Leu249=) c.763-52G>A (n.763-52G>A) c.552G>A (p.Leu184=) | |
| 1 | g.173909938A= | CA1207937050 | SERPINC1 | c.767T= (p.Leu256=) n.418T= c.559+1926T= (n.559+1926T=) c.623T= (p.Leu208=) c.890T= (p.Leu297=) c.848T= (p.Leu283=) c.746T= (p.Leu249=) c.763-53T= (n.763-53T=) c.551T= (p.Leu184=) | |
| 1 | g.173909938A>C | CA343774819 | SERPINC1 | c.767T>G (p.Leu256Arg) n.418T>G c.559+1926T>G (n.559+1926T>G) c.623T>G (p.Leu208Arg) c.890T>G (p.Leu297Arg) c.848T>G (p.Leu283Arg) c.746T>G (p.Leu249Arg) c.763-53T>G (n.763-53T>G) c.551T>G (p.Leu184Arg) | |
| 1 | g.173909938A>G | CA343774820 | SERPINC1 | c.767T>C (p.Leu256Pro) n.418T>C c.559+1926T>C (n.559+1926T>C) c.623T>C (p.Leu208Pro) c.890T>C (p.Leu297Pro) c.848T>C (p.Leu283Pro) c.746T>C (p.Leu249Pro) c.763-53T>C (n.763-53T>C) c.551T>C (p.Leu184Pro) | dbSNP gnomAD v2 |
| 1 | g.173909938A>T | CA343774821 | SERPINC1 | c.767T>A (p.Leu256Gln) n.418T>A c.559+1926T>A (n.559+1926T>A) c.623T>A (p.Leu208Gln) c.890T>A (p.Leu297Gln) c.848T>A (p.Leu283Gln) c.746T>A (p.Leu249Gln) c.763-53T>A (n.763-53T>A) c.551T>A (p.Leu184Gln) | |
| 1 | g.173909938dup | CA2580007607 | SERPINC1 | c.767dup (p.Trp257ValfsTer8) n.418dup c.559+1926dup (n.559+1926dup) c.623dup (p.Trp209ValfsTer8) c.890dup (p.Trp298ValfsTer8) c.848dup (p.Trp284ValfsTer8) c.746dup (p.Trp250ValfsTer8) c.763-53dup (n.763-53dup) c.551dup (p.Trp185ValfsTer8) | |
| 1 | g.173909938_173909939delinsAG | CA1207937051 | SERPINC1 | c.766_767delinsCT (p.Leu256=) n.417_418delinsCT c.559+1925_559+1926delinsCT (n.559+1925_559+1926delinsCT) c.622_623delinsCT (p.Leu208=) c.889_890delinsCT (p.Leu297=) c.847_848delinsCT (p.Leu283=) c.745_746delinsCT (p.Leu249=) c.763-54_763-53delinsCT (n.763-54_763-53delinsCT) c.550_551delinsCT (p.Leu184=) | |
| 1 | g.173909939G>A | CA1251335 | SERPINC1 | c.766C>T (p.Leu256=) n.417C>T c.559+1925C>T (n.559+1925C>T) c.622C>T (p.Leu208=) c.889C>T (p.Leu297=) c.847C>T (p.Leu283=) c.745C>T (p.Leu249=) c.763-54C>T (n.763-54C>T) c.550C>T (p.Leu184=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909939G>C | CA343774823 | SERPINC1 | c.766C>G (p.Leu256Val) n.417C>G c.559+1925C>G (n.559+1925C>G) c.622C>G (p.Leu208Val) c.889C>G (p.Leu297Val) c.847C>G (p.Leu283Val) c.745C>G (p.Leu249Val) c.763-54C>G (n.763-54C>G) c.550C>G (p.Leu184Val) | |
| 1 | g.173909939G= | CA1207937052 | SERPINC1 | c.766C= (p.Leu256=) n.417C= c.559+1925C= (n.559+1925C=) c.622C= (p.Leu208=) c.889C= (p.Leu297=) c.847C= (p.Leu283=) c.745C= (p.Leu249=) c.763-54C= (n.763-54C=) c.550C= (p.Leu184=) | |
| 1 | g.173909939G>T | CA343774822 | SERPINC1 | c.766C>A (p.Leu256Met) n.417C>A c.559+1925C>A (n.559+1925C>A) c.622C>A (p.Leu208Met) c.889C>A (p.Leu297Met) c.847C>A (p.Leu283Met) c.745C>A (p.Leu249Met) c.763-54C>A (n.763-54C>A) c.550C>A (p.Leu184Met) | |
| 1 | g.173909940del | CA915943672 | SERPINC1 | c.766del (p.Leu256CysfsTer28) n.417del c.559+1925del (n.559+1925del) c.622del (p.Leu208CysfsTer28) c.889del (p.Leu297CysfsTer28) c.847del (p.Leu283CysfsTer28) c.745del (p.Leu249CysfsTer28) c.763-54del (n.763-54del) c.550del (p.Leu184CysfsTer28) | ClinVar dbSNP |
| 1 | g.173909940G>A | CA421942834 | SERPINC1 | c.765C>T (p.Gly255=) n.416C>T c.559+1924C>T (n.559+1924C>T) c.621C>T (p.Gly207=) c.888C>T (p.Gly296=) c.846C>T (p.Gly282=) c.744C>T (p.Gly248=) c.763-55C>T (n.763-55C>T) c.549C>T (p.Gly183=) | gnomAD v4 |
| 1 | g.173909940G>C | CA421942835 | SERPINC1 | c.765C>G (p.Gly255=) n.416C>G c.559+1924C>G (n.559+1924C>G) c.621C>G (p.Gly207=) c.888C>G (p.Gly296=) c.846C>G (p.Gly282=) c.744C>G (p.Gly248=) c.763-55C>G (n.763-55C>G) c.549C>G (p.Gly183=) | |
| 1 | g.173909940G>T | CA421942836 | SERPINC1 | c.765C>A (p.Gly255=) n.416C>A c.559+1924C>A (n.559+1924C>A) c.621C>A (p.Gly207=) c.888C>A (p.Gly296=) c.846C>A (p.Gly282=) c.744C>A (p.Gly248=) c.763-55C>A (n.763-55C>A) c.549C>A (p.Gly183=) | |
| 1 | g.173909941C>A | CA343774824 | SERPINC1 | c.764G>T (p.Gly255Val) n.415G>T c.559+1923G>T (n.559+1923G>T) c.620G>T (p.Gly207Val) c.887G>T (p.Gly296Val) c.845G>T (p.Gly282Val) c.743G>T (p.Gly248Val) c.763-56G>T (n.763-56G>T) c.548G>T (p.Gly183Val) | |
| 1 | g.173909941C>G | CA343774825 | SERPINC1 | c.764G>C (p.Gly255Ala) n.415G>C c.559+1923G>C (n.559+1923G>C) c.620G>C (p.Gly207Ala) c.887G>C (p.Gly296Ala) c.845G>C (p.Gly282Ala) c.743G>C (p.Gly248Ala) c.763-56G>C (n.763-56G>C) c.548G>C (p.Gly183Ala) | gnomAD v4 |
| 1 | g.173909941C>T | CA343774826 | SERPINC1 | c.764G>A (p.Gly255Asp) n.415G>A c.559+1923G>A (n.559+1923G>A) c.620G>A (p.Gly207Asp) c.887G>A (p.Gly296Asp) c.845G>A (p.Gly282Asp) c.743G>A (p.Gly248Asp) c.763-56G>A (n.763-56G>A) c.548G>A (p.Gly183Asp) | |
| 1 | g.173909942C>A | CA343774827 | SERPINC1 | c.763G>T (p.Gly255Cys) n.414G>T c.559+1922G>T (n.559+1922G>T) c.619G>T (p.Gly207Cys) c.886G>T (p.Gly296Cys) c.844G>T (p.Gly282Cys) c.742G>T (p.Gly248Cys) c.763-57G>T (n.763-57G>T) c.547G>T (p.Gly183Cys) | |
| 1 | g.173909942C= | CA1207937053 | SERPINC1 | c.763G= (p.Gly255=) n.414G= c.559+1922G= (n.559+1922G=) c.619G= (p.Gly207=) c.886G= (p.Gly296=) c.844G= (p.Gly282=) c.742G= (p.Gly248=) c.763-57G= (n.763-57G=) c.547G= (p.Gly183=) | |
| 1 | g.173909942C>G | CA343774828 | SERPINC1 | c.763G>C (p.Gly255Arg) n.414G>C c.559+1922G>C (n.559+1922G>C) c.619G>C (p.Gly207Arg) c.886G>C (p.Gly296Arg) c.844G>C (p.Gly282Arg) c.742G>C (p.Gly248Arg) c.763-57G>C (n.763-57G>C) c.547G>C (p.Gly183Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909942C>T | CA32780460 | SERPINC1 | c.763G>A (p.Gly255Ser) n.414G>A c.559+1922G>A (n.559+1922G>A) c.619G>A (p.Gly207Ser) c.886G>A (p.Gly296Ser) c.844G>A (p.Gly282Ser) c.742G>A (p.Gly248Ser) c.763-57G>A (n.763-57G>A) c.547G>A (p.Gly183Ser) | dbSNP |
| 1 | g.173909943C>A | CA343774829 | SERPINC1 | c.763-1G>T (n.763-1G>T) n.414-1G>T c.559+1921G>T (n.559+1921G>T) c.619-1G>T (n.619-1G>T) c.886-1G>T (n.886-1G>T) c.844-1G>T (n.844-1G>T) c.742-1G>T (n.742-1G>T) c.763-58G>T (n.763-58G>T) c.547-1G>T (n.547-1G>T) | |
| 1 | g.173909943C>G | CA343774830 | SERPINC1 | c.763-1G>C (n.763-1G>C) n.414-1G>C c.559+1921G>C (n.559+1921G>C) c.619-1G>C (n.619-1G>C) c.886-1G>C (n.886-1G>C) c.844-1G>C (n.844-1G>C) c.742-1G>C (n.742-1G>C) c.763-58G>C (n.763-58G>C) c.547-1G>C (n.547-1G>C) | |
| 1 | g.173909943C>T | CA343774831 | SERPINC1 | c.763-1G>A (n.763-1G>A) n.414-1G>A c.559+1921G>A (n.559+1921G>A) c.619-1G>A (n.619-1G>A) c.886-1G>A (n.886-1G>A) c.844-1G>A (n.844-1G>A) c.742-1G>A (n.742-1G>A) c.763-58G>A (n.763-58G>A) c.547-1G>A (n.547-1G>A) | COSMIC |
| 1 | g.173909944T>A | CA343774832 | SERPINC1 | c.763-2A>T (n.763-2A>T) n.414-2A>T c.559+1920A>T (n.559+1920A>T) c.619-2A>T (n.619-2A>T) c.886-2A>T (n.886-2A>T) c.844-2A>T (n.844-2A>T) c.742-2A>T (n.742-2A>T) c.763-59A>T (n.763-59A>T) c.547-2A>T (n.547-2A>T) | |
| 1 | g.173909944T>C | CA343774833 | SERPINC1 | c.763-2A>G (n.763-2A>G) n.414-2A>G c.559+1920A>G (n.559+1920A>G) c.619-2A>G (n.619-2A>G) c.886-2A>G (n.886-2A>G) c.844-2A>G (n.844-2A>G) c.742-2A>G (n.742-2A>G) c.763-59A>G (n.763-59A>G) c.547-2A>G (n.547-2A>G) | |
| 1 | g.173909944T>G | CA343774834 | SERPINC1 | c.763-2A>C (n.763-2A>C) n.414-2A>C c.559+1920A>C (n.559+1920A>C) c.619-2A>C (n.619-2A>C) c.886-2A>C (n.886-2A>C) c.844-2A>C (n.844-2A>C) c.742-2A>C (n.742-2A>C) c.763-59A>C (n.763-59A>C) c.547-2A>C (n.547-2A>C) | |
| 1 | g.173909945G>T | CA2573953486 | SERPINC1 | c.763-3C>A (n.763-3C>A) n.414-3C>A c.559+1919C>A (n.559+1919C>A) c.619-3C>A (n.619-3C>A) c.886-3C>A (n.886-3C>A) c.844-3C>A (n.844-3C>A) c.742-3C>A (n.742-3C>A) c.763-60C>A (n.763-60C>A) c.547-3C>A (n.547-3C>A) | |
| 1 | g.173909947A= | CA1207937054 | SERPINC1 | c.763-5T= (n.763-5T=) n.414-5T= c.559+1917T= (n.559+1917T=) c.619-5T= (n.619-5T=) c.886-5T= (n.886-5T=) c.844-5T= (n.844-5T=) c.742-5T= (n.742-5T=) c.763-62T= (n.763-62T=) c.547-5T= (n.547-5T=) | |
| 1 | g.173909947A>G | CA1251336 | SERPINC1 | c.763-5T>C (n.763-5T>C) n.414-5T>C c.559+1917T>C (n.559+1917T>C) c.619-5T>C (n.619-5T>C) c.886-5T>C (n.886-5T>C) c.844-5T>C (n.844-5T>C) c.742-5T>C (n.742-5T>C) c.763-62T>C (n.763-62T>C) c.547-5T>C (n.547-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909948del | CA2649174168 | SERPINC1 | c.763-5del (n.763-5del) n.414-5del c.559+1917del (n.559+1917del) c.619-5del (n.619-5del) c.886-5del (n.886-5del) c.844-5del (n.844-5del) c.742-5del (n.742-5del) c.763-62del (n.763-62del) c.547-5del (n.547-5del) | gnomAD v4 |
| 1 | g.173909949G>A | CA2649174172 | SERPINC1 | c.763-7C>T (n.763-7C>T) n.414-7C>T c.559+1915C>T (n.559+1915C>T) c.619-7C>T (n.619-7C>T) c.886-7C>T (n.886-7C>T) c.844-7C>T (n.844-7C>T) c.742-7C>T (n.742-7C>T) c.763-64C>T (n.763-64C>T) c.547-7C>T (n.547-7C>T) | gnomAD v4 |
| 1 | g.173909950A>C | CA2649174175 | SERPINC1 | c.763-8T>G (n.763-8T>G) n.414-8T>G c.559+1914T>G (n.559+1914T>G) c.619-8T>G (n.619-8T>G) c.886-8T>G (n.886-8T>G) c.844-8T>G (n.844-8T>G) c.742-8T>G (n.742-8T>G) c.763-65T>G (n.763-65T>G) c.547-8T>G (n.547-8T>G) | gnomAD v4 |
| 1 | g.173909950A>G | CA2649174177 | SERPINC1 | c.763-8T>C (n.763-8T>C) n.414-8T>C c.559+1914T>C (n.559+1914T>C) c.619-8T>C (n.619-8T>C) c.886-8T>C (n.886-8T>C) c.844-8T>C (n.844-8T>C) c.742-8T>C (n.742-8T>C) c.763-65T>C (n.763-65T>C) c.547-8T>C (n.547-8T>C) | gnomAD v4 |
| 1 | g.173909951G>T | CA2649174179 | SERPINC1 | c.763-9C>A (n.763-9C>A) n.414-9C>A c.559+1913C>A (n.559+1913C>A) c.619-9C>A (n.619-9C>A) c.886-9C>A (n.886-9C>A) c.844-9C>A (n.844-9C>A) c.742-9C>A (n.742-9C>A) c.763-66C>A (n.763-66C>A) c.547-9C>A (n.547-9C>A) | gnomAD v4 |
| 1 | g.173909951_173909952delinsGA | CA1207937055 | SERPINC1 | c.763-10_763-9delinsTC (n.763-10_763-9delinsTC) n.414-10_414-9delinsTC c.559+1912_559+1913delinsTC (n.559+1912_559+1913delinsTC) c.619-10_619-9delinsTC (n.619-10_619-9delinsTC) c.886-10_886-9delinsTC (n.886-10_886-9delinsTC) c.844-10_844-9delinsTC (n.844-10_844-9delinsTC) c.742-10_742-9delinsTC (n.742-10_742-9delinsTC) c.763-67_763-66delinsTC (n.763-67_763-66delinsTC) c.547-10_547-9delinsTC (n.547-10_547-9delinsTC) | |
| 1 | g.173909953del | CA1009277544 | SERPINC1 | c.763-10del (n.763-10del) n.414-10del c.559+1912del (n.559+1912del) c.619-10del (n.619-10del) c.886-10del (n.886-10del) c.844-10del (n.844-10del) c.742-10del (n.742-10del) c.763-67del (n.763-67del) c.547-10del (n.547-10del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909954T>A | CA1251337 | SERPINC1 | c.763-12A>T (n.763-12A>T) n.414-12A>T c.559+1910A>T (n.559+1910A>T) c.619-12A>T (n.619-12A>T) c.886-12A>T (n.886-12A>T) c.844-12A>T (n.844-12A>T) c.742-12A>T (n.742-12A>T) c.763-69A>T (n.763-69A>T) c.547-12A>T (n.547-12A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909954T= | CA1148269410 | SERPINC1 | c.763-12A= (n.763-12A=) n.414-12A= c.559+1910A= (n.559+1910A=) c.619-12A= (n.619-12A=) c.886-12A= (n.886-12A=) c.844-12A= (n.844-12A=) c.742-12A= (n.742-12A=) c.763-69A= (n.763-69A=) c.547-12A= (n.547-12A=) | |
| 1 | g.173909955C>A | CA2649174182 | SERPINC1 | c.763-13G>T (n.763-13G>T) n.414-13G>T c.559+1909G>T (n.559+1909G>T) c.619-13G>T (n.619-13G>T) c.886-13G>T (n.886-13G>T) c.844-13G>T (n.844-13G>T) c.742-13G>T (n.742-13G>T) c.763-70G>T (n.763-70G>T) c.547-13G>T (n.547-13G>T) | gnomAD v4 |
| 1 | g.173909955C>G | CA2649174186 | SERPINC1 | c.763-13G>C (n.763-13G>C) n.414-13G>C c.559+1909G>C (n.559+1909G>C) c.619-13G>C (n.619-13G>C) c.886-13G>C (n.886-13G>C) c.844-13G>C (n.844-13G>C) c.742-13G>C (n.742-13G>C) c.763-70G>C (n.763-70G>C) c.547-13G>C (n.547-13G>C) | gnomAD v4 |
| 1 | g.173909957C>T | CA2649174190 | SERPINC1 | c.763-15G>A (n.763-15G>A) n.414-15G>A c.559+1907G>A (n.559+1907G>A) c.619-15G>A (n.619-15G>A) c.886-15G>A (n.886-15G>A) c.844-15G>A (n.844-15G>A) c.742-15G>A (n.742-15G>A) c.763-72G>A (n.763-72G>A) c.547-15G>A (n.547-15G>A) | gnomAD v4 |
| 1 | g.173909958A= | CA1142052934 | SERPINC1 | c.763-16T= (n.763-16T=) n.414-16T= c.559+1906T= (n.559+1906T=) c.619-16T= (n.619-16T=) c.886-16T= (n.886-16T=) c.844-16T= (n.844-16T=) c.742-16T= (n.742-16T=) c.763-73T= (n.763-73T=) c.547-16T= (n.547-16T=) | |
| 1 | g.173909958A>G | CA1251338 | SERPINC1 | c.763-16T>C (n.763-16T>C) n.414-16T>C c.559+1906T>C (n.559+1906T>C) c.619-16T>C (n.619-16T>C) c.886-16T>C (n.886-16T>C) c.844-16T>C (n.844-16T>C) c.742-16T>C (n.742-16T>C) c.763-73T>C (n.763-73T>C) c.547-16T>C (n.547-16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909959A>G | CA2649174202 | SERPINC1 | c.763-17T>C (n.763-17T>C) n.414-17T>C c.559+1905T>C (n.559+1905T>C) c.619-17T>C (n.619-17T>C) c.886-17T>C (n.886-17T>C) c.844-17T>C (n.844-17T>C) c.742-17T>C (n.742-17T>C) c.763-74T>C (n.763-74T>C) c.547-17T>C (n.547-17T>C) | dbSNP gnomAD v4 |
| 1 | g.173909959_173909961dup | CA2649174198 | SERPINC1 | c.763-19_763-17dup (n.763-19_763-17dup) n.414-19_414-17dup c.559+1903_559+1905dup (n.559+1903_559+1905dup) c.619-19_619-17dup (n.619-19_619-17dup) c.886-19_886-17dup (n.886-19_886-17dup) c.844-19_844-17dup (n.844-19_844-17dup) c.742-19_742-17dup (n.742-19_742-17dup) c.763-76_763-74dup (n.763-76_763-74dup) c.547-19_547-17dup (n.547-19_547-17dup) | gnomAD v4 |
| 1 | g.173909962_173909965del | CA2649174200 | SERPINC1 | c.763-20_763-17del (n.763-20_763-17del) n.414-20_414-17del c.559+1902_559+1905del (n.559+1902_559+1905del) c.619-20_619-17del (n.619-20_619-17del) c.886-20_886-17del (n.886-20_886-17del) c.844-20_844-17del (n.844-20_844-17del) c.742-20_742-17del (n.742-20_742-17del) c.763-77_763-74del (n.763-77_763-74del) c.547-20_547-17del (n.547-20_547-17del) | gnomAD v4 |
| 1 | g.173909963A>C | CA2746682355 | SERPINC1 | c.763-21T>G (n.763-21T>G) n.414-21T>G c.559+1901T>G (n.559+1901T>G) c.619-21T>G (n.619-21T>G) c.886-21T>G (n.886-21T>G) c.844-21T>G (n.844-21T>G) c.742-21T>G (n.742-21T>G) c.763-78T>G (n.763-78T>G) c.547-21T>G (n.547-21T>G) | |
| 1 | g.173909963A>G | CA2649174204 | SERPINC1 | c.763-21T>C (n.763-21T>C) n.414-21T>C c.559+1901T>C (n.559+1901T>C) c.619-21T>C (n.619-21T>C) c.886-21T>C (n.886-21T>C) c.844-21T>C (n.844-21T>C) c.742-21T>C (n.742-21T>C) c.763-78T>C (n.763-78T>C) c.547-21T>C (n.547-21T>C) | gnomAD v4 |
| 1 | g.173909964A= | CA1207937056 | SERPINC1 | c.763-22T= (n.763-22T=) n.414-22T= c.559+1900T= (n.559+1900T=) c.619-22T= (n.619-22T=) c.886-22T= (n.886-22T=) c.844-22T= (n.844-22T=) c.742-22T= (n.742-22T=) c.763-79T= (n.763-79T=) c.547-22T= (n.547-22T=) | |
| 1 | g.173909964A>G | CA1251339 | SERPINC1 | c.763-22T>C (n.763-22T>C) n.414-22T>C c.559+1900T>C (n.559+1900T>C) c.619-22T>C (n.619-22T>C) c.886-22T>C (n.886-22T>C) c.844-22T>C (n.844-22T>C) c.742-22T>C (n.742-22T>C) c.763-79T>C (n.763-79T>C) c.547-22T>C (n.547-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909966A>G | CA2649174206 | SERPINC1 | c.763-24T>C (n.763-24T>C) n.414-24T>C c.559+1898T>C (n.559+1898T>C) c.619-24T>C (n.619-24T>C) c.886-24T>C (n.886-24T>C) c.844-24T>C (n.844-24T>C) c.742-24T>C (n.742-24T>C) c.763-81T>C (n.763-81T>C) c.547-24T>C (n.547-24T>C) | gnomAD v4 |
| 1 | g.173909968C= | CA1207937058 | SERPINC1 | c.763-26G= (n.763-26G=) n.414-26G= c.559+1896G= (n.559+1896G=) c.619-26G= (n.619-26G=) c.886-26G= (n.886-26G=) c.844-26G= (n.844-26G=) c.742-26G= (n.742-26G=) c.763-83G= (n.763-83G=) c.547-26G= (n.547-26G=) | |
| 1 | g.173909968C>T | CA1207937057 | SERPINC1 | c.763-26G>A (n.763-26G>A) n.414-26G>A c.559+1896G>A (n.559+1896G>A) c.619-26G>A (n.619-26G>A) c.886-26G>A (n.886-26G>A) c.844-26G>A (n.844-26G>A) c.742-26G>A (n.742-26G>A) c.763-83G>A (n.763-83G>A) c.547-26G>A (n.547-26G>A) | dbSNP |
| 1 | g.173909969A= | CA1207937059 | SERPINC1 | c.763-27T= (n.763-27T=) n.414-27T= c.559+1895T= (n.559+1895T=) c.619-27T= (n.619-27T=) c.886-27T= (n.886-27T=) c.844-27T= (n.844-27T=) c.742-27T= (n.742-27T=) c.763-84T= (n.763-84T=) c.547-27T= (n.547-27T=) | |
| 1 | g.173909969A>T | CA32780480 | SERPINC1 | c.763-27T>A (n.763-27T>A) n.414-27T>A c.559+1895T>A (n.559+1895T>A) c.619-27T>A (n.619-27T>A) c.886-27T>A (n.886-27T>A) c.844-27T>A (n.844-27T>A) c.742-27T>A (n.742-27T>A) c.763-84T>A (n.763-84T>A) c.547-27T>A (n.547-27T>A) | dbSNP |
| 1 | g.173909970C= | CA1207937060 | SERPINC1 | c.763-28G= (n.763-28G=) n.414-28G= c.559+1894G= (n.559+1894G=) c.619-28G= (n.619-28G=) c.886-28G= (n.886-28G=) c.844-28G= (n.844-28G=) c.742-28G= (n.742-28G=) c.763-85G= (n.763-85G=) c.547-28G= (n.547-28G=) | |
| 1 | g.173909970C>G | CA2649174208 | SERPINC1 | c.763-28G>C (n.763-28G>C) n.414-28G>C c.559+1894G>C (n.559+1894G>C) c.619-28G>C (n.619-28G>C) c.886-28G>C (n.886-28G>C) c.844-28G>C (n.844-28G>C) c.742-28G>C (n.742-28G>C) c.763-85G>C (n.763-85G>C) c.547-28G>C (n.547-28G>C) | gnomAD v4 |
| 1 | g.173909970C>T | CA1251340 | SERPINC1 | c.763-28G>A (n.763-28G>A) n.414-28G>A c.559+1894G>A (n.559+1894G>A) c.619-28G>A (n.619-28G>A) c.886-28G>A (n.886-28G>A) c.844-28G>A (n.844-28G>A) c.742-28G>A (n.742-28G>A) c.763-85G>A (n.763-85G>A) c.547-28G>A (n.547-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909973A= | CA1207937061 | SERPINC1 | c.763-31T= (n.763-31T=) n.414-31T= c.559+1891T= (n.559+1891T=) c.619-31T= (n.619-31T=) c.886-31T= (n.886-31T=) c.844-31T= (n.844-31T=) c.742-31T= (n.742-31T=) c.763-88T= (n.763-88T=) c.547-31T= (n.547-31T=) | |
| 1 | g.173909973A>C | CA1251341 | SERPINC1 | c.763-31T>G (n.763-31T>G) n.414-31T>G c.559+1891T>G (n.559+1891T>G) c.619-31T>G (n.619-31T>G) c.886-31T>G (n.886-31T>G) c.844-31T>G (n.844-31T>G) c.742-31T>G (n.742-31T>G) c.763-88T>G (n.763-88T>G) c.547-31T>G (n.547-31T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909973A>T | CA2649174214 | SERPINC1 | c.763-31T>A (n.763-31T>A) n.414-31T>A c.559+1891T>A (n.559+1891T>A) c.619-31T>A (n.619-31T>A) c.886-31T>A (n.886-31T>A) c.844-31T>A (n.844-31T>A) c.742-31T>A (n.742-31T>A) c.763-88T>A (n.763-88T>A) c.547-31T>A (n.547-31T>A) | gnomAD v4 |
| 1 | g.173909974C>A | CA527601269 | SERPINC1 | c.763-32G>T (n.763-32G>T) n.414-32G>T c.559+1890G>T (n.559+1890G>T) c.619-32G>T (n.619-32G>T) c.886-32G>T (n.886-32G>T) c.844-32G>T (n.844-32G>T) c.742-32G>T (n.742-32G>T) c.763-89G>T (n.763-89G>T) c.547-32G>T (n.547-32G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909974C= | CA1207937062 | SERPINC1 | c.763-32G= (n.763-32G=) n.414-32G= c.559+1890G= (n.559+1890G=) c.619-32G= (n.619-32G=) c.886-32G= (n.886-32G=) c.844-32G= (n.844-32G=) c.742-32G= (n.742-32G=) c.763-89G= (n.763-89G=) c.547-32G= (n.547-32G=) | |
| 1 | g.173909975A= | CA1207937063 | SERPINC1 | c.763-33T= (n.763-33T=) n.414-33T= c.559+1889T= (n.559+1889T=) c.619-33T= (n.619-33T=) c.886-33T= (n.886-33T=) c.844-33T= (n.844-33T=) c.742-33T= (n.742-33T=) c.763-90T= (n.763-90T=) c.547-33T= (n.547-33T=) | |
| 1 | g.173909975A>G | CA2649174217 | SERPINC1 | c.763-33T>C (n.763-33T>C) n.414-33T>C c.559+1889T>C (n.559+1889T>C) c.619-33T>C (n.619-33T>C) c.886-33T>C (n.886-33T>C) c.844-33T>C (n.844-33T>C) c.742-33T>C (n.742-33T>C) c.763-90T>C (n.763-90T>C) c.547-33T>C (n.547-33T>C) | gnomAD v4 |
| 1 | g.173909975A>T | CA32780483 | SERPINC1 | c.763-33T>A (n.763-33T>A) n.414-33T>A c.559+1889T>A (n.559+1889T>A) c.619-33T>A (n.619-33T>A) c.886-33T>A (n.886-33T>A) c.844-33T>A (n.844-33T>A) c.742-33T>A (n.742-33T>A) c.763-90T>A (n.763-90T>A) c.547-33T>A (n.547-33T>A) | dbSNP |
| 1 | g.173909976T>C | CA2573953543 | SERPINC1 | c.763-34A>G (n.763-34A>G) n.414-34A>G c.559+1888A>G (n.559+1888A>G) c.619-34A>G (n.619-34A>G) c.886-34A>G (n.886-34A>G) c.844-34A>G (n.844-34A>G) c.742-34A>G (n.742-34A>G) c.763-91A>G (n.763-91A>G) c.547-34A>G (n.547-34A>G) | |
| 1 | g.173909976T>G | CA32780487 | SERPINC1 | c.763-34A>C (n.763-34A>C) n.414-34A>C c.559+1888A>C (n.559+1888A>C) c.619-34A>C (n.619-34A>C) c.886-34A>C (n.886-34A>C) c.844-34A>C (n.844-34A>C) c.742-34A>C (n.742-34A>C) c.763-91A>C (n.763-91A>C) c.547-34A>C (n.547-34A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909976T= | CA1207937064 | SERPINC1 | c.763-34A= (n.763-34A=) n.414-34A= c.559+1888A= (n.559+1888A=) c.619-34A= (n.619-34A=) c.886-34A= (n.886-34A=) c.844-34A= (n.844-34A=) c.742-34A= (n.742-34A=) c.763-91A= (n.763-91A=) c.547-34A= (n.547-34A=) | |
| 1 | g.173909977_173909978delinsTC | CA1207937065 | SERPINC1 | c.763-36_763-35delinsGA (n.763-36_763-35delinsGA) n.414-36_414-35delinsGA c.559+1886_559+1887delinsGA (n.559+1886_559+1887delinsGA) c.619-36_619-35delinsGA (n.619-36_619-35delinsGA) c.886-36_886-35delinsGA (n.886-36_886-35delinsGA) c.844-36_844-35delinsGA (n.844-36_844-35delinsGA) c.742-36_742-35delinsGA (n.742-36_742-35delinsGA) c.763-93_763-92delinsGA (n.763-93_763-92delinsGA) c.547-36_547-35delinsGA (n.547-36_547-35delinsGA) | |
| 1 | g.173909978del | CA1251342 | SERPINC1 | c.763-36del (n.763-36del) n.414-36del c.559+1886del (n.559+1886del) c.619-36del (n.619-36del) c.886-36del (n.886-36del) c.844-36del (n.844-36del) c.742-36del (n.742-36del) c.763-93del (n.763-93del) c.547-36del (n.547-36del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909979A>G | CA2649174223 | SERPINC1 | c.763-37T>C (n.763-37T>C) n.414-37T>C c.559+1885T>C (n.559+1885T>C) c.619-37T>C (n.619-37T>C) c.886-37T>C (n.886-37T>C) c.844-37T>C (n.844-37T>C) c.742-37T>C (n.742-37T>C) c.763-94T>C (n.763-94T>C) c.547-37T>C (n.547-37T>C) | gnomAD v4 |
| 1 | g.173909980T>C | CA2573953550 | SERPINC1 | c.763-38A>G (n.763-38A>G) n.414-38A>G c.559+1884A>G (n.559+1884A>G) c.619-38A>G (n.619-38A>G) c.886-38A>G (n.886-38A>G) c.844-38A>G (n.844-38A>G) c.742-38A>G (n.742-38A>G) c.763-95A>G (n.763-95A>G) c.547-38A>G (n.547-38A>G) | gnomAD v4 |
| 1 | g.173909981A= | CA1207937066 | SERPINC1 | c.763-39T= (n.763-39T=) n.414-39T= c.559+1883T= (n.559+1883T=) c.619-39T= (n.619-39T=) c.886-39T= (n.886-39T=) c.844-39T= (n.844-39T=) c.742-39T= (n.742-39T=) c.763-96T= (n.763-96T=) c.547-39T= (n.547-39T=) | |
| 1 | g.173909981A>T | CA527601270 | SERPINC1 | c.763-39T>A (n.763-39T>A) n.414-39T>A c.559+1883T>A (n.559+1883T>A) c.619-39T>A (n.619-39T>A) c.886-39T>A (n.886-39T>A) c.844-39T>A (n.844-39T>A) c.742-39T>A (n.742-39T>A) c.763-96T>A (n.763-96T>A) c.547-39T>A (n.547-39T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909982G>A | CA1009277555 | SERPINC1 | c.763-40C>T (n.763-40C>T) n.414-40C>T c.559+1882C>T (n.559+1882C>T) c.619-40C>T (n.619-40C>T) c.886-40C>T (n.886-40C>T) c.844-40C>T (n.844-40C>T) c.742-40C>T (n.742-40C>T) c.763-97C>T (n.763-97C>T) c.547-40C>T (n.547-40C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909982G= | CA1207937067 | SERPINC1 | c.763-40C= (n.763-40C=) n.414-40C= c.559+1882C= (n.559+1882C=) c.619-40C= (n.619-40C=) c.886-40C= (n.886-40C=) c.844-40C= (n.844-40C=) c.742-40C= (n.742-40C=) c.763-97C= (n.763-97C=) c.547-40C= (n.547-40C=) | |
| 1 | g.173909983G>A | CA1207937068 | SERPINC1 | c.763-41C>T (n.763-41C>T) n.414-41C>T c.559+1881C>T (n.559+1881C>T) c.619-41C>T (n.619-41C>T) c.886-41C>T (n.886-41C>T) c.844-41C>T (n.844-41C>T) c.742-41C>T (n.742-41C>T) c.763-98C>T (n.763-98C>T) c.547-41C>T (n.547-41C>T) | dbSNP gnomAD v4 |
| 1 | g.173909983G= | CA1207937069 | SERPINC1 | c.763-41C= (n.763-41C=) n.414-41C= c.559+1881C= (n.559+1881C=) c.619-41C= (n.619-41C=) c.886-41C= (n.886-41C=) c.844-41C= (n.844-41C=) c.742-41C= (n.742-41C=) c.763-98C= (n.763-98C=) c.547-41C= (n.547-41C=) | |
| 1 | g.173909983G>T | CA2573953587 | SERPINC1 | c.763-41C>A (n.763-41C>A) n.414-41C>A c.559+1881C>A (n.559+1881C>A) c.619-41C>A (n.619-41C>A) c.886-41C>A (n.886-41C>A) c.844-41C>A (n.844-41C>A) c.742-41C>A (n.742-41C>A) c.763-98C>A (n.763-98C>A) c.547-41C>A (n.547-41C>A) | gnomAD v4 |
| 1 | g.173909984A>T | CA2573953588 | SERPINC1 | c.763-42T>A (n.763-42T>A) n.414-42T>A c.559+1880T>A (n.559+1880T>A) c.619-42T>A (n.619-42T>A) c.886-42T>A (n.886-42T>A) c.844-42T>A (n.844-42T>A) c.742-42T>A (n.742-42T>A) c.763-99T>A (n.763-99T>A) c.547-42T>A (n.547-42T>A) | |
| 1 | g.173909985G>A | CA1251343 | SERPINC1 | c.763-43C>T (n.763-43C>T) n.414-43C>T c.559+1879C>T (n.559+1879C>T) c.619-43C>T (n.619-43C>T) c.886-43C>T (n.886-43C>T) c.844-43C>T (n.844-43C>T) c.742-43C>T (n.742-43C>T) c.763-100C>T (n.763-100C>T) c.547-43C>T (n.547-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909985G= | CA1207937070 | SERPINC1 | c.763-43C= (n.763-43C=) n.414-43C= c.559+1879C= (n.559+1879C=) c.619-43C= (n.619-43C=) c.886-43C= (n.886-43C=) c.844-43C= (n.844-43C=) c.742-43C= (n.742-43C=) c.763-100C= (n.763-100C=) c.547-43C= (n.547-43C=) | |
| 1 | g.173909985G>T | CA2649174229 | SERPINC1 | c.763-43C>A (n.763-43C>A) n.414-43C>A c.559+1879C>A (n.559+1879C>A) c.619-43C>A (n.619-43C>A) c.886-43C>A (n.886-43C>A) c.844-43C>A (n.844-43C>A) c.742-43C>A (n.742-43C>A) c.763-100C>A (n.763-100C>A) c.547-43C>A (n.547-43C>A) | gnomAD v4 |
| 1 | g.173909986G>C | CA1251344 | SERPINC1 | c.763-44C>G (n.763-44C>G) n.414-44C>G c.559+1878C>G (n.559+1878C>G) c.619-44C>G (n.619-44C>G) c.886-44C>G (n.886-44C>G) c.844-44C>G (n.844-44C>G) c.742-44C>G (n.742-44C>G) c.763-101C>G (n.763-101C>G) c.547-44C>G (n.547-44C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909986G= | CA1207937071 | SERPINC1 | c.763-44C= (n.763-44C=) n.414-44C= c.559+1878C= (n.559+1878C=) c.619-44C= (n.619-44C=) c.886-44C= (n.886-44C=) c.844-44C= (n.844-44C=) c.742-44C= (n.742-44C=) c.763-101C= (n.763-101C=) c.547-44C= (n.547-44C=) | |
| 1 | g.173909986G>T | CA2649174233 | SERPINC1 | c.763-44C>A (n.763-44C>A) n.414-44C>A c.559+1878C>A (n.559+1878C>A) c.619-44C>A (n.619-44C>A) c.886-44C>A (n.886-44C>A) c.844-44C>A (n.844-44C>A) c.742-44C>A (n.742-44C>A) c.763-101C>A (n.763-101C>A) c.547-44C>A (n.547-44C>A) | gnomAD v4 |
| 1 | g.173909987A>G | CA2573953597 | SERPINC1 | c.763-45T>C (n.763-45T>C) n.414-45T>C c.559+1877T>C (n.559+1877T>C) c.619-45T>C (n.619-45T>C) c.886-45T>C (n.886-45T>C) c.844-45T>C (n.844-45T>C) c.742-45T>C (n.742-45T>C) c.763-102T>C (n.763-102T>C) c.547-45T>C (n.547-45T>C) | gnomAD v4 |
| 1 | g.173909988T>C | CA527601271 | SERPINC1 | c.763-46A>G (n.763-46A>G) n.414-46A>G c.559+1876A>G (n.559+1876A>G) c.619-46A>G (n.619-46A>G) c.886-46A>G (n.886-46A>G) c.844-46A>G (n.844-46A>G) c.742-46A>G (n.742-46A>G) c.763-103A>G (n.763-103A>G) c.547-46A>G (n.547-46A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909988T= | CA1207937072 | SERPINC1 | c.763-46A= (n.763-46A=) n.414-46A= c.559+1876A= (n.559+1876A=) c.619-46A= (n.619-46A=) c.886-46A= (n.886-46A=) c.844-46A= (n.844-46A=) c.742-46A= (n.742-46A=) c.763-103A= (n.763-103A=) c.547-46A= (n.547-46A=) |