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.173909820C>A | CA1251314 | SERPINC1 | c.885G>T (p.Val295=) n.536G>T c.559+2044G>T (n.559+2044G>T) c.741G>T (p.Val247=) c.1008G>T (p.Val336=) c.966G>T (p.Val322=) c.864G>T (p.Val288=) c.828G>T (p.Val276=) c.669G>T (p.Val223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909820C= | CA1207937006 | SERPINC1 | c.885G= (p.Val295=) n.536G= c.559+2044G= (n.559+2044G=) c.741G= (p.Val247=) c.1008G= (p.Val336=) c.966G= (p.Val322=) c.864G= (p.Val288=) c.828G= (p.Val276=) c.669G= (p.Val223=) | |
1 | g.173909820C>G | CA421942738 | SERPINC1 | c.885G>C (p.Val295=) n.536G>C c.559+2044G>C (n.559+2044G>C) c.741G>C (p.Val247=) c.1008G>C (p.Val336=) c.966G>C (p.Val322=) c.864G>C (p.Val288=) c.828G>C (p.Val276=) c.669G>C (p.Val223=) | |
1 | g.173909820C>T | CA421942739 | SERPINC1 | c.885G>A (p.Val295=) n.536G>A c.559+2044G>A (n.559+2044G>A) c.741G>A (p.Val247=) c.1008G>A (p.Val336=) c.966G>A (p.Val322=) c.864G>A (p.Val288=) c.828G>A (p.Val276=) c.669G>A (p.Val223=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909821A= | CA1207937007 | SERPINC1 | c.884T= (p.Val295=) n.535T= c.559+2043T= (n.559+2043T=) c.740T= (p.Val247=) c.1007T= (p.Val336=) c.965T= (p.Val322=) c.863T= (p.Val288=) c.827T= (p.Val276=) c.668T= (p.Val223=) | |
1 | g.173909821A>C | CA343774395 | SERPINC1 | c.884T>G (p.Val295Gly) n.535T>G c.559+2043T>G (n.559+2043T>G) c.740T>G (p.Val247Gly) c.1007T>G (p.Val336Gly) c.965T>G (p.Val322Gly) c.863T>G (p.Val288Gly) c.827T>G (p.Val276Gly) c.668T>G (p.Val223Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909821A>G | CA343774397 | SERPINC1 | c.884T>C (p.Val295Ala) n.535T>C c.559+2043T>C (n.559+2043T>C) c.740T>C (p.Val247Ala) c.1007T>C (p.Val336Ala) c.965T>C (p.Val322Ala) c.863T>C (p.Val288Ala) c.827T>C (p.Val276Ala) c.668T>C (p.Val223Ala) | |
1 | g.173909821A>T | CA343774398 | SERPINC1 | c.884T>A (p.Val295Glu) n.535T>A c.559+2043T>A (n.559+2043T>A) c.740T>A (p.Val247Glu) c.1007T>A (p.Val336Glu) c.965T>A (p.Val322Glu) c.863T>A (p.Val288Glu) c.827T>A (p.Val276Glu) c.668T>A (p.Val223Glu) | |
1 | g.173909822C>A | CA343774399 | SERPINC1 | c.883G>T (p.Val295Leu) n.534G>T c.559+2042G>T (n.559+2042G>T) c.739G>T (p.Val247Leu) c.1006G>T (p.Val336Leu) c.964G>T (p.Val322Leu) c.862G>T (p.Val288Leu) c.826G>T (p.Val276Leu) c.667G>T (p.Val223Leu) | |
1 | g.173909822C= | CA1143479504 | SERPINC1 | c.883G= (p.Val295=) n.534G= c.559+2042G= (n.559+2042G=) c.739G= (p.Val247=) c.1006G= (p.Val336=) c.964G= (p.Val322=) c.862G= (p.Val288=) c.826G= (p.Val276=) c.667G= (p.Val223=) | |
1 | g.173909822C>G | CA343774401 | SERPINC1 | c.883G>C (p.Val295Leu) n.534G>C c.559+2042G>C (n.559+2042G>C) c.739G>C (p.Val247Leu) c.1006G>C (p.Val336Leu) c.964G>C (p.Val322Leu) c.862G>C (p.Val288Leu) c.826G>C (p.Val276Leu) c.667G>C (p.Val223Leu) | |
1 | g.173909822C>T | CA1251315 | SERPINC1 | c.883G>A (p.Val295Met) n.534G>A c.559+2042G>A (n.559+2042G>A) c.739G>A (p.Val247Met) c.1006G>A (p.Val336Met) c.964G>A (p.Val322Met) c.862G>A (p.Val288Met) c.826G>A (p.Val276Met) c.667G>A (p.Val223Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909823G>A | CA1251316 | SERPINC1 | c.882C>T (p.Arg294=) n.533C>T c.559+2041C>T (n.559+2041C>T) c.738C>T (p.Arg246=) c.1005C>T (p.Arg335=) c.963C>T (p.Arg321=) c.861C>T (p.Arg287=) c.825C>T (p.Arg275=) c.666C>T (p.Arg222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909823G>C | CA421942740 | SERPINC1 | c.882C>G (p.Arg294=) n.533C>G c.559+2041C>G (n.559+2041C>G) c.738C>G (p.Arg246=) c.1005C>G (p.Arg335=) c.963C>G (p.Arg321=) c.861C>G (p.Arg287=) c.825C>G (p.Arg275=) c.666C>G (p.Arg222=) | ClinVar dbSNP |
1 | g.173909823G= | CA1142705163 | SERPINC1 | c.882C= (p.Arg294=) n.533C= c.559+2041C= (n.559+2041C=) c.738C= (p.Arg246=) c.1005C= (p.Arg335=) c.963C= (p.Arg321=) c.861C= (p.Arg287=) c.825C= (p.Arg275=) c.666C= (p.Arg222=) | |
1 | g.173909823G>T | CA421942741 | SERPINC1 | c.882C>A (p.Arg294=) n.533C>A c.559+2041C>A (n.559+2041C>A) c.738C>A (p.Arg246=) c.1005C>A (p.Arg335=) c.963C>A (p.Arg321=) c.861C>A (p.Arg287=) c.825C>A (p.Arg275=) c.666C>A (p.Arg222=) | gnomAD v4 |
1 | g.173909824C>A | CA233134 | SERPINC1 | c.881G>T (p.Arg294Leu) n.532G>T c.559+2040G>T (n.559+2040G>T) c.737G>T (p.Arg246Leu) c.1004G>T (p.Arg335Leu) c.962G>T (p.Arg321Leu) c.860G>T (p.Arg287Leu) c.824G>T (p.Arg275Leu) c.665G>T (p.Arg222Leu) | ClinVar dbSNP |
1 | g.173909824C= | CA1148224791 | SERPINC1 | c.881G= (p.Arg294=) n.532G= c.559+2040G= (n.559+2040G=) c.737G= (p.Arg246=) c.1004G= (p.Arg335=) c.962G= (p.Arg321=) c.860G= (p.Arg287=) c.824G= (p.Arg275=) c.665G= (p.Arg222=) | |
1 | g.173909824C>G | CA343774406 | SERPINC1 | c.881G>C (p.Arg294Pro) n.532G>C c.559+2040G>C (n.559+2040G>C) c.737G>C (p.Arg246Pro) c.1004G>C (p.Arg335Pro) c.962G>C (p.Arg321Pro) c.860G>C (p.Arg287Pro) c.824G>C (p.Arg275Pro) c.665G>C (p.Arg222Pro) | |
1 | g.173909824C>T | CA233131 | SERPINC1 | c.881G>A (p.Arg294His) n.532G>A c.559+2040G>A (n.559+2040G>A) c.737G>A (p.Arg246His) c.1004G>A (p.Arg335His) c.962G>A (p.Arg321His) c.860G>A (p.Arg287His) c.824G>A (p.Arg275His) c.665G>A (p.Arg222His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909825G>A | CA1251317 | SERPINC1 | c.880C>T (p.Arg294Cys) n.531C>T c.559+2039C>T (n.559+2039C>T) c.736C>T (p.Arg246Cys) c.1003C>T (p.Arg335Cys) c.961C>T (p.Arg321Cys) c.859C>T (p.Arg287Cys) c.823C>T (p.Arg275Cys) c.664C>T (p.Arg222Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.173909825G>C | CA343774409 | SERPINC1 | c.880C>G (p.Arg294Gly) n.531C>G c.559+2039C>G (n.559+2039C>G) c.736C>G (p.Arg246Gly) c.1003C>G (p.Arg335Gly) c.961C>G (p.Arg321Gly) c.859C>G (p.Arg287Gly) c.823C>G (p.Arg275Gly) c.664C>G (p.Arg222Gly) | |
1 | g.173909825G= | CA1148439462 | SERPINC1 | c.880C= (p.Arg294=) n.531C= c.559+2039C= (n.559+2039C=) c.736C= (p.Arg246=) c.1003C= (p.Arg335=) c.961C= (p.Arg321=) c.859C= (p.Arg287=) c.823C= (p.Arg275=) c.664C= (p.Arg222=) | |
1 | g.173909825G>T | CA343774410 | SERPINC1 | c.880C>A (p.Arg294Ser) n.531C>A c.559+2039C>A (n.559+2039C>A) c.736C>A (p.Arg246Ser) c.1003C>A (p.Arg335Ser) c.961C>A (p.Arg321Ser) c.859C>A (p.Arg287Ser) c.823C>A (p.Arg275Ser) c.664C>A (p.Arg222Ser) | |
1 | g.173909826C>A | CA421942742 | SERPINC1 | c.879G>T (p.Arg293=) n.530G>T c.559+2038G>T (n.559+2038G>T) c.735G>T (p.Arg245=) c.1002G>T (p.Arg334=) c.960G>T (p.Arg320=) c.858G>T (p.Arg286=) c.822G>T (p.Arg274=) c.663G>T (p.Arg221=) | |
1 | g.173909826C>G | CA421942743 | SERPINC1 | c.879G>C (p.Arg293=) n.530G>C c.559+2038G>C (n.559+2038G>C) c.735G>C (p.Arg245=) c.1002G>C (p.Arg334=) c.960G>C (p.Arg320=) c.858G>C (p.Arg286=) c.822G>C (p.Arg274=) c.663G>C (p.Arg221=) | |
1 | g.173909826C>T | CA421942744 | SERPINC1 | c.879G>A (p.Arg293=) n.530G>A c.559+2038G>A (n.559+2038G>A) c.735G>A (p.Arg245=) c.1002G>A (p.Arg334=) c.960G>A (p.Arg320=) c.858G>A (p.Arg286=) c.822G>A (p.Arg274=) c.663G>A (p.Arg221=) | |
1 | g.173909827C>A | CA343774413 | SERPINC1 | c.878G>T (p.Arg293Leu) n.529G>T c.559+2037G>T (n.559+2037G>T) c.734G>T (p.Arg245Leu) c.1001G>T (p.Arg334Leu) c.959G>T (p.Arg320Leu) c.857G>T (p.Arg286Leu) c.821G>T (p.Arg274Leu) c.662G>T (p.Arg221Leu) | |
1 | g.173909827C= | CA1147668561 | SERPINC1 | c.878G= (p.Arg293=) n.529G= c.559+2037G= (n.559+2037G=) c.734G= (p.Arg245=) c.1001G= (p.Arg334=) c.959G= (p.Arg320=) c.857G= (p.Arg286=) c.821G= (p.Arg274=) c.662G= (p.Arg221=) | |
1 | g.173909827C>G | CA343774415 | SERPINC1 | c.878G>C (p.Arg293Pro) n.529G>C c.559+2037G>C (n.559+2037G>C) c.734G>C (p.Arg245Pro) c.1001G>C (p.Arg334Pro) c.959G>C (p.Arg320Pro) c.857G>C (p.Arg286Pro) c.821G>C (p.Arg274Pro) c.662G>C (p.Arg221Pro) | |
1 | g.173909827C>T | CA1251318 | SERPINC1 | c.878G>A (p.Arg293Gln) n.529G>A c.559+2037G>A (n.559+2037G>A) c.734G>A (p.Arg245Gln) c.1001G>A (p.Arg334Gln) c.959G>A (p.Arg320Gln) c.857G>A (p.Arg286Gln) c.821G>A (p.Arg274Gln) c.662G>A (p.Arg221Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909828G>A | CA1251319 | SERPINC1 | c.877C>T (p.Arg293Trp) n.528C>T c.559+2036C>T (n.559+2036C>T) c.733C>T (p.Arg245Trp) c.1000C>T (p.Arg334Trp) c.958C>T (p.Arg320Trp) c.856C>T (p.Arg286Trp) c.820C>T (p.Arg274Trp) c.661C>T (p.Arg221Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909828G>C | CA343774418 | SERPINC1 | c.877C>G (p.Arg293Gly) n.528C>G c.559+2036C>G (n.559+2036C>G) c.733C>G (p.Arg245Gly) c.1000C>G (p.Arg334Gly) c.958C>G (p.Arg320Gly) c.856C>G (p.Arg286Gly) c.820C>G (p.Arg274Gly) c.661C>G (p.Arg221Gly) | dbSNP |
1 | g.173909828G= | CA1207937008 | SERPINC1 | c.877C= (p.Arg293=) n.528C= c.559+2036C= (n.559+2036C=) c.733C= (p.Arg245=) c.1000C= (p.Arg334=) c.958C= (p.Arg320=) c.856C= (p.Arg286=) c.820C= (p.Arg274=) c.661C= (p.Arg221=) | |
1 | g.173909828G>T | CA421942745 | SERPINC1 | c.877C>A (p.Arg293=) n.528C>A c.559+2036C>A (n.559+2036C>A) c.733C>A (p.Arg245=) c.1000C>A (p.Arg334=) c.958C>A (p.Arg320=) c.856C>A (p.Arg286=) c.820C>A (p.Arg274=) c.661C>A (p.Arg221=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909829A= | CA1207937009 | SERPINC1 | c.876T= (p.Tyr292=) n.527T= c.559+2035T= (n.559+2035T=) c.732T= (p.Tyr244=) c.999T= (p.Tyr333=) c.957T= (p.Tyr319=) c.855T= (p.Tyr285=) c.819T= (p.Tyr273=) c.660T= (p.Tyr220=) | |
1 | g.173909829A>C | CA343774420 | SERPINC1 | c.876T>G (p.Tyr292Ter) n.527T>G c.559+2035T>G (n.559+2035T>G) c.732T>G (p.Tyr244Ter) c.999T>G (p.Tyr333Ter) c.957T>G (p.Tyr319Ter) c.855T>G (p.Tyr285Ter) c.819T>G (p.Tyr273Ter) c.660T>G (p.Tyr220Ter) | |
1 | g.173909829A>G | CA421942746 | SERPINC1 | c.876T>C (p.Tyr292=) n.527T>C c.559+2035T>C (n.559+2035T>C) c.732T>C (p.Tyr244=) c.999T>C (p.Tyr333=) c.957T>C (p.Tyr319=) c.855T>C (p.Tyr285=) c.819T>C (p.Tyr273=) c.660T>C (p.Tyr220=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909829A>T | CA343774422 | SERPINC1 | c.876T>A (p.Tyr292Ter) n.527T>A c.559+2035T>A (n.559+2035T>A) c.732T>A (p.Tyr244Ter) c.999T>A (p.Tyr333Ter) c.957T>A (p.Tyr319Ter) c.855T>A (p.Tyr285Ter) c.819T>A (p.Tyr273Ter) c.660T>A (p.Tyr220Ter) | |
1 | g.173909830T>A | CA1251320 | SERPINC1 | c.875A>T (p.Tyr292Phe) n.526A>T c.559+2034A>T (n.559+2034A>T) c.731A>T (p.Tyr244Phe) c.998A>T (p.Tyr333Phe) c.956A>T (p.Tyr319Phe) c.854A>T (p.Tyr285Phe) c.818A>T (p.Tyr273Phe) c.659A>T (p.Tyr220Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909830T>C | CA343774424 | SERPINC1 | c.875A>G (p.Tyr292Cys) n.526A>G c.559+2034A>G (n.559+2034A>G) c.731A>G (p.Tyr244Cys) c.998A>G (p.Tyr333Cys) c.956A>G (p.Tyr319Cys) c.854A>G (p.Tyr285Cys) c.818A>G (p.Tyr273Cys) c.659A>G (p.Tyr220Cys) | |
1 | g.173909830T>G | CA343774426 | SERPINC1 | c.875A>C (p.Tyr292Ser) n.526A>C c.559+2034A>C (n.559+2034A>C) c.731A>C (p.Tyr244Ser) c.998A>C (p.Tyr333Ser) c.956A>C (p.Tyr319Ser) c.854A>C (p.Tyr285Ser) c.818A>C (p.Tyr273Ser) c.659A>C (p.Tyr220Ser) | |
1 | g.173909830T= | CA1207937010 | SERPINC1 | c.875A= (p.Tyr292=) n.526A= c.559+2034A= (n.559+2034A=) c.731A= (p.Tyr244=) c.998A= (p.Tyr333=) c.956A= (p.Tyr319=) c.854A= (p.Tyr285=) c.818A= (p.Tyr273=) c.659A= (p.Tyr220=) | |
1 | g.173909831A= | CA1207937011 | SERPINC1 | c.874T= (p.Tyr292=) n.525T= c.559+2033T= (n.559+2033T=) c.730T= (p.Tyr244=) c.997T= (p.Tyr333=) c.955T= (p.Tyr319=) c.853T= (p.Tyr285=) c.817T= (p.Tyr273=) c.658T= (p.Tyr220=) | |
1 | g.173909831A>C | CA343774428 | SERPINC1 | c.874T>G (p.Tyr292Asp) n.525T>G c.559+2033T>G (n.559+2033T>G) c.730T>G (p.Tyr244Asp) c.997T>G (p.Tyr333Asp) c.955T>G (p.Tyr319Asp) c.853T>G (p.Tyr285Asp) c.817T>G (p.Tyr273Asp) c.658T>G (p.Tyr220Asp) | |
1 | g.173909831A>G | CA1251321 | SERPINC1 | c.874T>C (p.Tyr292His) n.525T>C c.559+2033T>C (n.559+2033T>C) c.730T>C (p.Tyr244His) c.997T>C (p.Tyr333His) c.955T>C (p.Tyr319His) c.853T>C (p.Tyr285His) c.817T>C (p.Tyr273His) c.658T>C (p.Tyr220His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909831A>T | CA343774431 | SERPINC1 | c.874T>A (p.Tyr292Asn) n.525T>A c.559+2033T>A (n.559+2033T>A) c.730T>A (p.Tyr244Asn) c.997T>A (p.Tyr333Asn) c.955T>A (p.Tyr319Asn) c.853T>A (p.Tyr285Asn) c.817T>A (p.Tyr273Asn) c.658T>A (p.Tyr220Asn) | |
1 | g.173909832A= | CA1207937012 | SERPINC1 | c.873T= (p.Arg291=) n.524T= c.559+2032T= (n.559+2032T=) c.729T= (p.Arg243=) c.996T= (p.Arg332=) c.954T= (p.Arg318=) c.852T= (p.Arg284=) c.816T= (p.Arg272=) c.657T= (p.Arg219=) | |
1 | g.173909832A>C | CA421942747 | SERPINC1 | c.873T>G (p.Arg291=) n.524T>G c.559+2032T>G (n.559+2032T>G) c.729T>G (p.Arg243=) c.996T>G (p.Arg332=) c.954T>G (p.Arg318=) c.852T>G (p.Arg284=) c.816T>G (p.Arg272=) c.657T>G (p.Arg219=) | |
1 | g.173909832A>G | CA1251322 | SERPINC1 | c.873T>C (p.Arg291=) n.524T>C c.559+2032T>C (n.559+2032T>C) c.729T>C (p.Arg243=) c.996T>C (p.Arg332=) c.954T>C (p.Arg318=) c.852T>C (p.Arg284=) c.816T>C (p.Arg272=) c.657T>C (p.Arg219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909832A>T | CA421942748 | SERPINC1 | c.873T>A (p.Arg291=) n.524T>A c.559+2032T>A (n.559+2032T>A) c.729T>A (p.Arg243=) c.996T>A (p.Arg332=) c.954T>A (p.Arg318=) c.852T>A (p.Arg284=) c.816T>A (p.Arg272=) c.657T>A (p.Arg219=) | dbSNP |
1 | g.173909833C>A | CA343774438 | SERPINC1 | c.872G>T (p.Arg291Leu) n.523G>T c.559+2031G>T (n.559+2031G>T) c.728G>T (p.Arg243Leu) c.995G>T (p.Arg332Leu) c.953G>T (p.Arg318Leu) c.851G>T (p.Arg284Leu) c.815G>T (p.Arg272Leu) c.656G>T (p.Arg219Leu) | |
1 | g.173909833C= | CA1144203267 | SERPINC1 | c.872G= (p.Arg291=) n.523G= c.559+2031G= (n.559+2031G=) c.728G= (p.Arg243=) c.995G= (p.Arg332=) c.953G= (p.Arg318=) c.851G= (p.Arg284=) c.815G= (p.Arg272=) c.656G= (p.Arg219=) | |
1 | g.173909833C>G | CA343774434 | SERPINC1 | c.872G>C (p.Arg291Pro) n.523G>C c.559+2031G>C (n.559+2031G>C) c.728G>C (p.Arg243Pro) c.995G>C (p.Arg332Pro) c.953G>C (p.Arg318Pro) c.851G>C (p.Arg284Pro) c.815G>C (p.Arg272Pro) c.656G>C (p.Arg219Pro) | |
1 | g.173909833C>T | CA1251323 | SERPINC1 | c.872G>A (p.Arg291His) n.523G>A c.559+2031G>A (n.559+2031G>A) c.728G>A (p.Arg243His) c.995G>A (p.Arg332His) c.953G>A (p.Arg318His) c.851G>A (p.Arg284His) c.815G>A (p.Arg272His) c.656G>A (p.Arg219His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909834G>A | CA1251324 | SERPINC1 | c.871C>T (p.Arg291Cys) n.522C>T c.559+2030C>T (n.559+2030C>T) c.727C>T (p.Arg243Cys) c.994C>T (p.Arg332Cys) c.952C>T (p.Arg318Cys) c.850C>T (p.Arg284Cys) c.814C>T (p.Arg272Cys) c.655C>T (p.Arg219Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909834G>C | CA343774441 | SERPINC1 | c.871C>G (p.Arg291Gly) n.522C>G c.559+2030C>G (n.559+2030C>G) c.727C>G (p.Arg243Gly) c.994C>G (p.Arg332Gly) c.952C>G (p.Arg318Gly) c.850C>G (p.Arg284Gly) c.814C>G (p.Arg272Gly) c.655C>G (p.Arg219Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909834G= | CA1207937013 | SERPINC1 | c.871C= (p.Arg291=) n.522C= c.559+2030C= (n.559+2030C=) c.727C= (p.Arg243=) c.994C= (p.Arg332=) c.952C= (p.Arg318=) c.850C= (p.Arg284=) c.814C= (p.Arg272=) c.655C= (p.Arg219=) | |
1 | g.173909834G>T | CA343774442 | SERPINC1 | c.871C>A (p.Arg291Ser) n.522C>A c.559+2030C>A (n.559+2030C>A) c.727C>A (p.Arg243Ser) c.994C>A (p.Arg332Ser) c.952C>A (p.Arg318Ser) c.850C>A (p.Arg284Ser) c.814C>A (p.Arg272Ser) c.655C>A (p.Arg219Ser) | dbSNP |
1 | g.173909835G>A | CA1251325 | SERPINC1 | c.870C>T (p.Phe290=) n.521C>T c.559+2029C>T (n.559+2029C>T) c.726C>T (p.Phe242=) c.993C>T (p.Phe331=) c.951C>T (p.Phe317=) c.849C>T (p.Phe283=) c.813C>T (p.Phe271=) c.654C>T (p.Phe218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909835G>C | CA343774445 | SERPINC1 | c.870C>G (p.Phe290Leu) n.521C>G c.559+2029C>G (n.559+2029C>G) c.726C>G (p.Phe242Leu) c.993C>G (p.Phe331Leu) c.951C>G (p.Phe317Leu) c.849C>G (p.Phe283Leu) c.813C>G (p.Phe271Leu) c.654C>G (p.Phe218Leu) | dbSNP gnomAD v4 |
1 | g.173909835G= | CA1143713195 | SERPINC1 | c.870C= (p.Phe290=) n.521C= c.559+2029C= (n.559+2029C=) c.726C= (p.Phe242=) c.993C= (p.Phe331=) c.951C= (p.Phe317=) c.849C= (p.Phe283=) c.813C= (p.Phe271=) c.654C= (p.Phe218=) | |
1 | g.173909835G>T | CA343774447 | SERPINC1 | c.870C>A (p.Phe290Leu) n.521C>A c.559+2029C>A (n.559+2029C>A) c.726C>A (p.Phe242Leu) c.993C>A (p.Phe331Leu) c.951C>A (p.Phe317Leu) c.849C>A (p.Phe283Leu) c.813C>A (p.Phe271Leu) c.654C>A (p.Phe218Leu) | dbSNP gnomAD v4 |
1 | g.173909836A>C | CA343774449 | SERPINC1 | c.869T>G (p.Phe290Cys) n.520T>G c.559+2028T>G (n.559+2028T>G) c.725T>G (p.Phe242Cys) c.992T>G (p.Phe331Cys) c.950T>G (p.Phe317Cys) c.848T>G (p.Phe283Cys) c.812T>G (p.Phe271Cys) c.653T>G (p.Phe218Cys) | |
1 | g.173909836A>G | CA343774451 | SERPINC1 | c.869T>C (p.Phe290Ser) n.520T>C c.559+2028T>C (n.559+2028T>C) c.725T>C (p.Phe242Ser) c.992T>C (p.Phe331Ser) c.950T>C (p.Phe317Ser) c.848T>C (p.Phe283Ser) c.812T>C (p.Phe271Ser) c.653T>C (p.Phe218Ser) | |
1 | g.173909836A>T | CA343774452 | SERPINC1 | c.869T>A (p.Phe290Tyr) n.520T>A c.559+2028T>A (n.559+2028T>A) c.725T>A (p.Phe242Tyr) c.992T>A (p.Phe331Tyr) c.950T>A (p.Phe317Tyr) c.848T>A (p.Phe283Tyr) c.812T>A (p.Phe271Tyr) c.653T>A (p.Phe218Tyr) | |
1 | g.173909837A= | CA1207937014 | SERPINC1 | c.868T= (p.Phe290=) n.519T= c.559+2027T= (n.559+2027T=) c.724T= (p.Phe242=) c.991T= (p.Phe331=) c.949T= (p.Phe317=) c.847T= (p.Phe283=) c.811T= (p.Phe271=) c.652T= (p.Phe218=) | |
1 | g.173909837A>C | CA343774455 | SERPINC1 | c.868T>G (p.Phe290Val) n.519T>G c.559+2027T>G (n.559+2027T>G) c.724T>G (p.Phe242Val) c.991T>G (p.Phe331Val) c.949T>G (p.Phe317Val) c.847T>G (p.Phe283Val) c.811T>G (p.Phe271Val) c.652T>G (p.Phe218Val) | |
1 | g.173909837A>G | CA343774457 | SERPINC1 | c.868T>C (p.Phe290Leu) n.519T>C c.559+2027T>C (n.559+2027T>C) c.724T>C (p.Phe242Leu) c.991T>C (p.Phe331Leu) c.949T>C (p.Phe317Leu) c.847T>C (p.Phe283Leu) c.811T>C (p.Phe271Leu) c.652T>C (p.Phe218Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909837A>T | CA343774459 | SERPINC1 | c.868T>A (p.Phe290Ile) n.519T>A c.559+2027T>A (n.559+2027T>A) c.724T>A (p.Phe242Ile) c.991T>A (p.Phe331Ile) c.949T>A (p.Phe317Ile) c.847T>A (p.Phe283Ile) c.811T>A (p.Phe271Ile) c.652T>A (p.Phe218Ile) | |
1 | g.173909838C>A | CA343774461 | SERPINC1 | c.867G>T (p.Lys289Asn) n.518G>T c.559+2026G>T (n.559+2026G>T) c.723G>T (p.Lys241Asn) c.990G>T (p.Lys330Asn) c.948G>T (p.Lys316Asn) c.846G>T (p.Lys282Asn) c.810G>T (p.Lys270Asn) c.651G>T (p.Lys217Asn) | gnomAD v4 |
1 | g.173909838C= | CA1207937015 | SERPINC1 | c.867G= (p.Lys289=) n.518G= c.559+2026G= (n.559+2026G=) c.723G= (p.Lys241=) c.990G= (p.Lys330=) c.948G= (p.Lys316=) c.846G= (p.Lys282=) c.810G= (p.Lys270=) c.651G= (p.Lys217=) | |
1 | g.173909838C>G | CA343774463 | SERPINC1 | c.867G>C (p.Lys289Asn) n.518G>C c.559+2026G>C (n.559+2026G>C) c.723G>C (p.Lys241Asn) c.990G>C (p.Lys330Asn) c.948G>C (p.Lys316Asn) c.846G>C (p.Lys282Asn) c.810G>C (p.Lys270Asn) c.651G>C (p.Lys217Asn) | |
1 | g.173909838C>T | CA32780413 | SERPINC1 | c.867G>A (p.Lys289=) n.518G>A c.559+2026G>A (n.559+2026G>A) c.723G>A (p.Lys241=) c.990G>A (p.Lys330=) c.948G>A (p.Lys316=) c.846G>A (p.Lys282=) c.810G>A (p.Lys270=) c.651G>A (p.Lys217=) | dbSNP gnomAD v4 |
1 | g.173909839T>A | CA343774464 | SERPINC1 | c.866A>T (p.Lys289Met) n.517A>T c.559+2025A>T (n.559+2025A>T) c.722A>T (p.Lys241Met) c.989A>T (p.Lys330Met) c.947A>T (p.Lys316Met) c.845A>T (p.Lys282Met) c.809A>T (p.Lys270Met) c.650A>T (p.Lys217Met) | |
1 | g.173909839T>C | CA343774466 | SERPINC1 | c.866A>G (p.Lys289Arg) n.517A>G c.559+2025A>G (n.559+2025A>G) c.722A>G (p.Lys241Arg) c.989A>G (p.Lys330Arg) c.947A>G (p.Lys316Arg) c.845A>G (p.Lys282Arg) c.809A>G (p.Lys270Arg) c.650A>G (p.Lys217Arg) | |
1 | g.173909839T>G | CA343774468 | SERPINC1 | c.866A>C (p.Lys289Thr) n.517A>C c.559+2025A>C (n.559+2025A>C) c.722A>C (p.Lys241Thr) c.989A>C (p.Lys330Thr) c.947A>C (p.Lys316Thr) c.845A>C (p.Lys282Thr) c.809A>C (p.Lys270Thr) c.650A>C (p.Lys217Thr) | |
1 | g.173909840T>A | CA343774470 | SERPINC1 | c.865A>T (p.Lys289Ter) n.516A>T c.559+2024A>T (n.559+2024A>T) c.721A>T (p.Lys241Ter) c.988A>T (p.Lys330Ter) c.946A>T (p.Lys316Ter) c.844A>T (p.Lys282Ter) c.808A>T (p.Lys270Ter) c.649A>T (p.Lys217Ter) | |
1 | g.173909840T>C | CA343774472 | SERPINC1 | c.865A>G (p.Lys289Glu) n.516A>G c.559+2024A>G (n.559+2024A>G) c.721A>G (p.Lys241Glu) c.988A>G (p.Lys330Glu) c.946A>G (p.Lys316Glu) c.844A>G (p.Lys282Glu) c.808A>G (p.Lys270Glu) c.649A>G (p.Lys217Glu) | |
1 | g.173909840T>G | CA343774474 | SERPINC1 | c.865A>C (p.Lys289Gln) n.516A>C c.559+2024A>C (n.559+2024A>C) c.721A>C (p.Lys241Gln) c.988A>C (p.Lys330Gln) c.946A>C (p.Lys316Gln) c.844A>C (p.Lys282Gln) c.808A>C (p.Lys270Gln) c.649A>C (p.Lys217Gln) | gnomAD v4 |
1 | g.173909841G>A | CA421942749 | SERPINC1 | c.864C>T (p.Gly288=) n.515C>T c.559+2023C>T (n.559+2023C>T) c.720C>T (p.Gly240=) c.987C>T (p.Gly329=) c.945C>T (p.Gly315=) c.843C>T (p.Gly281=) c.807C>T (p.Gly269=) c.648C>T (p.Gly216=) | dbSNP |
1 | g.173909841G>C | CA1251326 | SERPINC1 | c.864C>G (p.Gly288=) n.515C>G c.559+2023C>G (n.559+2023C>G) c.720C>G (p.Gly240=) c.987C>G (p.Gly329=) c.945C>G (p.Gly315=) c.843C>G (p.Gly281=) c.807C>G (p.Gly269=) c.648C>G (p.Gly216=) | dbSNP ExAC gnomAD v4 |
1 | g.173909841G= | CA1207937016 | SERPINC1 | c.864C= (p.Gly288=) n.515C= c.559+2023C= (n.559+2023C=) c.720C= (p.Gly240=) c.987C= (p.Gly329=) c.945C= (p.Gly315=) c.843C= (p.Gly281=) c.807C= (p.Gly269=) c.648C= (p.Gly216=) | |
1 | g.173909841G>T | CA421942750 | SERPINC1 | c.864C>A (p.Gly288=) n.515C>A c.559+2023C>A (n.559+2023C>A) c.720C>A (p.Gly240=) c.987C>A (p.Gly329=) c.945C>A (p.Gly315=) c.843C>A (p.Gly281=) c.807C>A (p.Gly269=) c.648C>A (p.Gly216=) | |
1 | g.173909842C>A | CA343774477 | SERPINC1 | c.863G>T (p.Gly288Val) n.514G>T c.559+2022G>T (n.559+2022G>T) c.719G>T (p.Gly240Val) c.986G>T (p.Gly329Val) c.944G>T (p.Gly315Val) c.842G>T (p.Gly281Val) c.806G>T (p.Gly269Val) c.647G>T (p.Gly216Val) | |
1 | g.173909842C= | CA1207937017 | SERPINC1 | c.863G= (p.Gly288=) n.514G= c.559+2022G= (n.559+2022G=) c.719G= (p.Gly240=) c.986G= (p.Gly329=) c.944G= (p.Gly315=) c.842G= (p.Gly281=) c.806G= (p.Gly269=) c.647G= (p.Gly216=) | |
1 | g.173909842C>G | CA343774479 | SERPINC1 | c.863G>C (p.Gly288Ala) n.514G>C c.559+2022G>C (n.559+2022G>C) c.719G>C (p.Gly240Ala) c.986G>C (p.Gly329Ala) c.944G>C (p.Gly315Ala) c.842G>C (p.Gly281Ala) c.806G>C (p.Gly269Ala) c.647G>C (p.Gly216Ala) | |
1 | g.173909842C>T | CA343774481 | SERPINC1 | c.863G>A (p.Gly288Asp) n.514G>A c.559+2022G>A (n.559+2022G>A) c.719G>A (p.Gly240Asp) c.986G>A (p.Gly329Asp) c.944G>A (p.Gly315Asp) c.842G>A (p.Gly281Asp) c.806G>A (p.Gly269Asp) c.647G>A (p.Gly216Asp) | dbSNP gnomAD v4 |
1 | g.173909843C>A | CA343774482 | SERPINC1 | c.862G>T (p.Gly288Cys) n.513G>T c.559+2021G>T (n.559+2021G>T) c.718G>T (p.Gly240Cys) c.985G>T (p.Gly329Cys) c.943G>T (p.Gly315Cys) c.841G>T (p.Gly281Cys) c.805G>T (p.Gly269Cys) c.646G>T (p.Gly216Cys) | |
1 | g.173909843C>G | CA343774484 | SERPINC1 | c.862G>C (p.Gly288Arg) n.513G>C c.559+2021G>C (n.559+2021G>C) c.718G>C (p.Gly240Arg) c.985G>C (p.Gly329Arg) c.943G>C (p.Gly315Arg) c.841G>C (p.Gly281Arg) c.805G>C (p.Gly269Arg) c.646G>C (p.Gly216Arg) | |
1 | g.173909843C>T | CA343774486 | SERPINC1 | c.862G>A (p.Gly288Ser) n.513G>A c.559+2021G>A (n.559+2021G>A) c.718G>A (p.Gly240Ser) c.985G>A (p.Gly329Ser) c.943G>A (p.Gly315Ser) c.841G>A (p.Gly281Ser) c.805G>A (p.Gly269Ser) c.646G>A (p.Gly216Ser) | gnomAD v4 COSMIC |
1 | g.173909844T>A | CA343774490 | SERPINC1 | c.861A>T (p.Glu287Asp) n.512A>T c.559+2020A>T (n.559+2020A>T) c.717A>T (p.Glu239Asp) c.984A>T (p.Glu328Asp) c.942A>T (p.Glu314Asp) c.840A>T (p.Glu280Asp) c.804A>T (p.Glu268Asp) c.645A>T (p.Glu215Asp) | |
1 | g.173909844T>C | CA421942751 | SERPINC1 | c.861A>G (p.Glu287=) n.512A>G c.559+2020A>G (n.559+2020A>G) c.717A>G (p.Glu239=) c.984A>G (p.Glu328=) c.942A>G (p.Glu314=) c.840A>G (p.Glu280=) c.804A>G (p.Glu268=) c.645A>G (p.Glu215=) | gnomAD v4 |
1 | g.173909844T>G | CA343774488 | SERPINC1 | c.861A>C (p.Glu287Asp) n.512A>C c.559+2020A>C (n.559+2020A>C) c.717A>C (p.Glu239Asp) c.984A>C (p.Glu328Asp) c.942A>C (p.Glu314Asp) c.840A>C (p.Glu280Asp) c.804A>C (p.Glu268Asp) c.645A>C (p.Glu215Asp) | |
1 | g.173909845T>A | CA343774492 | SERPINC1 | c.860A>T (p.Glu287Val) n.511A>T c.559+2019A>T (n.559+2019A>T) c.716A>T (p.Glu239Val) c.983A>T (p.Glu328Val) c.941A>T (p.Glu314Val) c.839A>T (p.Glu280Val) c.803A>T (p.Glu268Val) c.644A>T (p.Glu215Val) | ClinVar dbSNP |
1 | g.173909845T>C | CA343774496 | SERPINC1 | c.860A>G (p.Glu287Gly) n.511A>G c.559+2019A>G (n.559+2019A>G) c.716A>G (p.Glu239Gly) c.983A>G (p.Glu328Gly) c.941A>G (p.Glu314Gly) c.839A>G (p.Glu280Gly) c.803A>G (p.Glu268Gly) c.644A>G (p.Glu215Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909845T>G | CA343774494 | SERPINC1 | c.860A>C (p.Glu287Ala) n.511A>C c.559+2019A>C (n.559+2019A>C) c.716A>C (p.Glu239Ala) c.983A>C (p.Glu328Ala) c.941A>C (p.Glu314Ala) c.839A>C (p.Glu280Ala) c.803A>C (p.Glu268Ala) c.644A>C (p.Glu215Ala) | |
1 | g.173909845T= | CA1207937018 | SERPINC1 | c.860A= (p.Glu287=) n.511A= c.559+2019A= (n.559+2019A=) c.716A= (p.Glu239=) c.983A= (p.Glu328=) c.941A= (p.Glu314=) c.839A= (p.Glu280=) c.803A= (p.Glu268=) c.644A= (p.Glu215=) | |
1 | g.173909846C>A | CA343774498 | SERPINC1 | c.859G>T (p.Glu287Ter) n.510G>T c.559+2018G>T (n.559+2018G>T) c.715G>T (p.Glu239Ter) c.982G>T (p.Glu328Ter) c.940G>T (p.Glu314Ter) c.838G>T (p.Glu280Ter) c.802G>T (p.Glu268Ter) c.643G>T (p.Glu215Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909846C= | CA1207937019 | SERPINC1 | c.859G= (p.Glu287=) n.510G= c.559+2018G= (n.559+2018G=) c.715G= (p.Glu239=) c.982G= (p.Glu328=) c.940G= (p.Glu314=) c.838G= (p.Glu280=) c.802G= (p.Glu268=) c.643G= (p.Glu215=) | |
1 | g.173909846C>G | CA343774502 | SERPINC1 | c.859G>C (p.Glu287Gln) n.510G>C c.559+2018G>C (n.559+2018G>C) c.715G>C (p.Glu239Gln) c.982G>C (p.Glu328Gln) c.940G>C (p.Glu314Gln) c.838G>C (p.Glu280Gln) c.802G>C (p.Glu268Gln) c.643G>C (p.Glu215Gln) | |
1 | g.173909846C>T | CA343774499 | SERPINC1 | c.859G>A (p.Glu287Lys) n.510G>A c.559+2018G>A (n.559+2018G>A) c.715G>A (p.Glu239Lys) c.982G>A (p.Glu328Lys) c.940G>A (p.Glu314Lys) c.838G>A (p.Glu280Lys) c.802G>A (p.Glu268Lys) c.643G>A (p.Glu215Lys) | COSMIC |
1 | g.173909847C>A | CA343774504 | SERPINC1 | c.858G>T (p.Gln286His) n.509G>T c.559+2017G>T (n.559+2017G>T) c.714G>T (p.Gln238His) c.981G>T (p.Gln327His) c.939G>T (p.Gln313His) c.837G>T (p.Gln279His) c.801G>T (p.Gln267His) c.642G>T (p.Gln214His) | |
1 | g.173909847C= | CA1141682755 | SERPINC1 | c.858G= (p.Gln286=) n.509G= c.559+2017G= (n.559+2017G=) c.714G= (p.Gln238=) c.981G= (p.Gln327=) c.939G= (p.Gln313=) c.837G= (p.Gln279=) c.801G= (p.Gln267=) c.642G= (p.Gln214=) | |
1 | g.173909847C>G | CA1251327 | SERPINC1 | c.858G>C (p.Gln286His) n.509G>C c.559+2017G>C (n.559+2017G>C) c.714G>C (p.Gln238His) c.981G>C (p.Gln327His) c.939G>C (p.Gln313His) c.837G>C (p.Gln279His) c.801G>C (p.Gln267His) c.642G>C (p.Gln214His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909847C>T | CA421942752 | SERPINC1 | c.858G>A (p.Gln286=) n.509G>A c.559+2017G>A (n.559+2017G>A) c.714G>A (p.Gln238=) c.981G>A (p.Gln327=) c.939G>A (p.Gln313=) c.837G>A (p.Gln279=) c.801G>A (p.Gln267=) c.642G>A (p.Gln214=) | |
1 | g.173909848T>A | CA343774507 | SERPINC1 | c.857A>T (p.Gln286Leu) n.508A>T c.559+2016A>T (n.559+2016A>T) c.713A>T (p.Gln238Leu) c.980A>T (p.Gln327Leu) c.938A>T (p.Gln313Leu) c.836A>T (p.Gln279Leu) c.800A>T (p.Gln267Leu) c.641A>T (p.Gln214Leu) | |
1 | g.173909848T>C | CA343774508 | SERPINC1 | c.857A>G (p.Gln286Arg) n.508A>G c.559+2016A>G (n.559+2016A>G) c.713A>G (p.Gln238Arg) c.980A>G (p.Gln327Arg) c.938A>G (p.Gln313Arg) c.836A>G (p.Gln279Arg) c.800A>G (p.Gln267Arg) c.641A>G (p.Gln214Arg) | |
1 | g.173909848T>G | CA343774510 | SERPINC1 | c.857A>C (p.Gln286Pro) n.508A>C c.559+2016A>C (n.559+2016A>C) c.713A>C (p.Gln238Pro) c.980A>C (p.Gln327Pro) c.938A>C (p.Gln313Pro) c.836A>C (p.Gln279Pro) c.800A>C (p.Gln267Pro) c.641A>C (p.Gln214Pro) | |
1 | g.173909849G>A | CA343774512 | SERPINC1 | c.856C>T (p.Gln286Ter) n.507C>T c.559+2015C>T (n.559+2015C>T) c.712C>T (p.Gln238Ter) c.979C>T (p.Gln327Ter) c.937C>T (p.Gln313Ter) c.835C>T (p.Gln279Ter) c.799C>T (p.Gln267Ter) c.640C>T (p.Gln214Ter) | |
1 | g.173909849G>C | CA343774514 | SERPINC1 | c.856C>G (p.Gln286Glu) n.507C>G c.559+2015C>G (n.559+2015C>G) c.712C>G (p.Gln238Glu) c.979C>G (p.Gln327Glu) c.937C>G (p.Gln313Glu) c.835C>G (p.Gln279Glu) c.799C>G (p.Gln267Glu) c.640C>G (p.Gln214Glu) | gnomAD v4 |
1 | g.173909849G>T | CA343774515 | SERPINC1 | c.856C>A (p.Gln286Lys) n.507C>A c.559+2015C>A (n.559+2015C>A) c.712C>A (p.Gln238Lys) c.979C>A (p.Gln327Lys) c.937C>A (p.Gln313Lys) c.835C>A (p.Gln279Lys) c.799C>A (p.Gln267Lys) c.640C>A (p.Gln214Lys) | |
1 | g.173909850G>A | CA421942753 | SERPINC1 | c.855C>T (p.Tyr285=) n.506C>T c.559+2014C>T (n.559+2014C>T) c.711C>T (p.Tyr237=) c.978C>T (p.Tyr326=) c.936C>T (p.Tyr312=) c.834C>T (p.Tyr278=) c.798C>T (p.Tyr266=) c.639C>T (p.Tyr213=) | |
1 | g.173909850G>C | CA343774517 | SERPINC1 | c.855C>G (p.Tyr285Ter) n.506C>G c.559+2014C>G (n.559+2014C>G) c.711C>G (p.Tyr237Ter) c.978C>G (p.Tyr326Ter) c.936C>G (p.Tyr312Ter) c.834C>G (p.Tyr278Ter) c.798C>G (p.Tyr266Ter) c.639C>G (p.Tyr213Ter) | |
1 | g.173909850G>T | CA343774518 | SERPINC1 | c.855C>A (p.Tyr285Ter) n.506C>A c.559+2014C>A (n.559+2014C>A) c.711C>A (p.Tyr237Ter) c.978C>A (p.Tyr326Ter) c.936C>A (p.Tyr312Ter) c.834C>A (p.Tyr278Ter) c.798C>A (p.Tyr266Ter) c.639C>A (p.Tyr213Ter) | gnomAD v4 |
1 | g.173909851T>A | CA343774524 | SERPINC1 | c.854A>T (p.Tyr285Phe) n.505A>T c.559+2013A>T (n.559+2013A>T) c.710A>T (p.Tyr237Phe) c.977A>T (p.Tyr326Phe) c.935A>T (p.Tyr312Phe) c.833A>T (p.Tyr278Phe) c.797A>T (p.Tyr266Phe) c.638A>T (p.Tyr213Phe) | |
1 | g.173909851T>C | CA343774522 | SERPINC1 | c.854A>G (p.Tyr285Cys) n.505A>G c.559+2013A>G (n.559+2013A>G) c.710A>G (p.Tyr237Cys) c.977A>G (p.Tyr326Cys) c.935A>G (p.Tyr312Cys) c.833A>G (p.Tyr278Cys) c.797A>G (p.Tyr266Cys) c.638A>G (p.Tyr213Cys) | |
1 | g.173909851T>G | CA343774520 | SERPINC1 | c.854A>C (p.Tyr285Ser) n.505A>C c.559+2013A>C (n.559+2013A>C) c.710A>C (p.Tyr237Ser) c.977A>C (p.Tyr326Ser) c.935A>C (p.Tyr312Ser) c.833A>C (p.Tyr278Ser) c.797A>C (p.Tyr266Ser) c.638A>C (p.Tyr213Ser) | |
1 | g.173909851T= | CA1207937020 | SERPINC1 | c.854A= (p.Tyr285=) n.505A= c.559+2013A= (n.559+2013A=) c.710A= (p.Tyr237=) c.977A= (p.Tyr326=) c.935A= (p.Tyr312=) c.833A= (p.Tyr278=) c.797A= (p.Tyr266=) c.638A= (p.Tyr213=) | |
1 | g.173909852A= | CA1207937021 | SERPINC1 | c.853T= (p.Tyr285=) n.504T= c.559+2012T= (n.559+2012T=) c.709T= (p.Tyr237=) c.976T= (p.Tyr326=) c.934T= (p.Tyr312=) c.832T= (p.Tyr278=) c.796T= (p.Tyr266=) c.637T= (p.Tyr213=) | |
1 | g.173909852A>C | CA343774528 | SERPINC1 | c.853T>G (p.Tyr285Asp) n.504T>G c.559+2012T>G (n.559+2012T>G) c.709T>G (p.Tyr237Asp) c.976T>G (p.Tyr326Asp) c.934T>G (p.Tyr312Asp) c.832T>G (p.Tyr278Asp) c.796T>G (p.Tyr266Asp) c.637T>G (p.Tyr213Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909852A>G | CA343774530 | SERPINC1 | c.853T>C (p.Tyr285His) n.504T>C c.559+2012T>C (n.559+2012T>C) c.709T>C (p.Tyr237His) c.976T>C (p.Tyr326His) c.934T>C (p.Tyr312His) c.832T>C (p.Tyr278His) c.796T>C (p.Tyr266His) c.637T>C (p.Tyr213His) | |
1 | g.173909852A>T | CA343774531 | SERPINC1 | c.853T>A (p.Tyr285Asn) n.504T>A c.559+2012T>A (n.559+2012T>A) c.709T>A (p.Tyr237Asn) c.976T>A (p.Tyr326Asn) c.934T>A (p.Tyr312Asn) c.832T>A (p.Tyr278Asn) c.796T>A (p.Tyr266Asn) c.637T>A (p.Tyr213Asn) | gnomAD v4 |
1 | g.173909852_173909857delinsACATCA | CA1144233207 | SERPINC1 | c.848_853delinsTGATGT (p.Met283=) n.499_504delinsTGATGT c.559+2007_559+2012delinsTGATGT (n.559+2007_559+2012delinsTGATGT) c.704_709delinsTGATGT (p.Met235=) c.971_976delinsTGATGT (p.Met324=) c.929_934delinsTGATGT (p.Met310=) c.827_832delinsTGATGT (p.Met276=) c.791_796delinsTGATGT (p.Met264=) c.632_637delinsTGATGT (p.Met211=) | |
1 | g.173909853_173909857dup | CA150699 | SERPINC1 | c.849_853dup (p.Tyr285Ter) n.500_504dup c.559+2008_559+2012dup (n.559+2008_559+2012dup) c.705_709dup (p.Tyr237Ter) c.972_976dup (p.Tyr326Ter) c.930_934dup (p.Tyr312Ter) c.828_832dup (p.Tyr278Ter) c.792_796dup (p.Tyr266Ter) c.633_637dup (p.Tyr213Ter) | ClinVar dbSNP |
1 | g.173909853C>A | CA343774534 | SERPINC1 | c.852G>T (p.Met284Ile) n.503G>T c.559+2011G>T (n.559+2011G>T) c.708G>T (p.Met236Ile) c.975G>T (p.Met325Ile) c.933G>T (p.Met311Ile) c.831G>T (p.Met277Ile) c.795G>T (p.Met265Ile) c.636G>T (p.Met212Ile) | gnomAD v4 |
1 | g.173909853C>G | CA343774536 | SERPINC1 | c.852G>C (p.Met284Ile) n.503G>C c.559+2011G>C (n.559+2011G>C) c.708G>C (p.Met236Ile) c.975G>C (p.Met325Ile) c.933G>C (p.Met311Ile) c.831G>C (p.Met277Ile) c.795G>C (p.Met265Ile) c.636G>C (p.Met212Ile) | |
1 | g.173909853C>T | CA343774538 | SERPINC1 | c.852G>A (p.Met284Ile) n.503G>A c.559+2011G>A (n.559+2011G>A) c.708G>A (p.Met236Ile) c.975G>A (p.Met325Ile) c.933G>A (p.Met311Ile) c.831G>A (p.Met277Ile) c.795G>A (p.Met265Ile) c.636G>A (p.Met212Ile) | |
1 | g.173909854A= | CA1207937022 | SERPINC1 | c.851T= (p.Met284=) n.502T= c.559+2010T= (n.559+2010T=) c.707T= (p.Met236=) c.974T= (p.Met325=) c.932T= (p.Met311=) c.830T= (p.Met277=) c.794T= (p.Met265=) c.635T= (p.Met212=) | |
1 | g.173909854A>C | CA343774540 | SERPINC1 | c.851T>G (p.Met284Arg) n.502T>G c.559+2010T>G (n.559+2010T>G) c.707T>G (p.Met236Arg) c.974T>G (p.Met325Arg) c.932T>G (p.Met311Arg) c.830T>G (p.Met277Arg) c.794T>G (p.Met265Arg) c.635T>G (p.Met212Arg) | ClinVar dbSNP |
1 | g.173909854A>G | CA343774542 | SERPINC1 | c.851T>C (p.Met284Thr) n.502T>C c.559+2010T>C (n.559+2010T>C) c.707T>C (p.Met236Thr) c.974T>C (p.Met325Thr) c.932T>C (p.Met311Thr) c.830T>C (p.Met277Thr) c.794T>C (p.Met265Thr) c.635T>C (p.Met212Thr) | ClinVar |
1 | g.173909854A>T | CA343774544 | SERPINC1 | c.851T>A (p.Met284Lys) n.502T>A c.559+2010T>A (n.559+2010T>A) c.707T>A (p.Met236Lys) c.974T>A (p.Met325Lys) c.932T>A (p.Met311Lys) c.830T>A (p.Met277Lys) c.794T>A (p.Met265Lys) c.635T>A (p.Met212Lys) | ClinVar dbSNP |
1 | g.173909855T>A | CA343774547 | SERPINC1 | c.850A>T (p.Met284Leu) n.501A>T c.559+2009A>T (n.559+2009A>T) c.706A>T (p.Met236Leu) c.973A>T (p.Met325Leu) c.931A>T (p.Met311Leu) c.829A>T (p.Met277Leu) c.793A>T (p.Met265Leu) c.634A>T (p.Met212Leu) | |
1 | g.173909855T>C | CA343774548 | SERPINC1 | c.850A>G (p.Met284Val) n.501A>G c.559+2009A>G (n.559+2009A>G) c.706A>G (p.Met236Val) c.973A>G (p.Met325Val) c.931A>G (p.Met311Val) c.829A>G (p.Met277Val) c.793A>G (p.Met265Val) c.634A>G (p.Met212Val) | |
1 | g.173909855T>G | CA343774546 | SERPINC1 | c.850A>C (p.Met284Leu) n.501A>C c.559+2009A>C (n.559+2009A>C) c.706A>C (p.Met236Leu) c.973A>C (p.Met325Leu) c.931A>C (p.Met311Leu) c.829A>C (p.Met277Leu) c.793A>C (p.Met265Leu) c.634A>C (p.Met212Leu) | |
1 | g.173909856C>A | CA343774550 | SERPINC1 | c.849G>T (p.Met283Ile) n.500G>T c.559+2008G>T (n.559+2008G>T) c.705G>T (p.Met235Ile) c.972G>T (p.Met324Ile) c.930G>T (p.Met310Ile) c.828G>T (p.Met276Ile) c.792G>T (p.Met264Ile) c.633G>T (p.Met211Ile) | dbSNP gnomAD v4 |
1 | g.173909856C>G | CA343774552 | SERPINC1 | c.849G>C (p.Met283Ile) n.500G>C c.559+2008G>C (n.559+2008G>C) c.705G>C (p.Met235Ile) c.972G>C (p.Met324Ile) c.930G>C (p.Met310Ile) c.828G>C (p.Met276Ile) c.792G>C (p.Met264Ile) c.633G>C (p.Met211Ile) | |
1 | g.173909856C>T | CA343774553 | SERPINC1 | c.849G>A (p.Met283Ile) n.500G>A c.559+2008G>A (n.559+2008G>A) c.705G>A (p.Met235Ile) c.972G>A (p.Met324Ile) c.930G>A (p.Met310Ile) c.828G>A (p.Met276Ile) c.792G>A (p.Met264Ile) c.633G>A (p.Met211Ile) | |
1 | g.173909857A= | CA1207937023 | SERPINC1 | c.848T= (p.Met283=) n.499T= c.559+2007T= (n.559+2007T=) c.704T= (p.Met235=) c.971T= (p.Met324=) c.929T= (p.Met310=) c.827T= (p.Met276=) c.791T= (p.Met264=) c.632T= (p.Met211=) | |
1 | g.173909857A>C | CA343774554 | SERPINC1 | c.848T>G (p.Met283Arg) n.499T>G c.559+2007T>G (n.559+2007T>G) c.704T>G (p.Met235Arg) c.971T>G (p.Met324Arg) c.929T>G (p.Met310Arg) c.827T>G (p.Met276Arg) c.791T>G (p.Met264Arg) c.632T>G (p.Met211Arg) | |
1 | g.173909857A>G | CA343774556 | SERPINC1 | c.848T>C (p.Met283Thr) n.499T>C c.559+2007T>C (n.559+2007T>C) c.704T>C (p.Met235Thr) c.971T>C (p.Met324Thr) c.929T>C (p.Met310Thr) c.827T>C (p.Met276Thr) c.791T>C (p.Met264Thr) c.632T>C (p.Met211Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909857A>T | CA343774558 | SERPINC1 | c.848T>A (p.Met283Lys) n.499T>A c.559+2007T>A (n.559+2007T>A) c.704T>A (p.Met235Lys) c.971T>A (p.Met324Lys) c.929T>A (p.Met310Lys) c.827T>A (p.Met276Lys) c.791T>A (p.Met264Lys) c.632T>A (p.Met211Lys) | |
1 | g.173909858T>A | CA343774560 | SERPINC1 | c.847A>T (p.Met283Leu) n.498A>T c.559+2006A>T (n.559+2006A>T) c.703A>T (p.Met235Leu) c.970A>T (p.Met324Leu) c.928A>T (p.Met310Leu) c.826A>T (p.Met276Leu) c.790A>T (p.Met264Leu) c.631A>T (p.Met211Leu) | |
1 | g.173909858T>C | CA343774561 | SERPINC1 | c.847A>G (p.Met283Val) n.498A>G c.559+2006A>G (n.559+2006A>G) c.703A>G (p.Met235Val) c.970A>G (p.Met324Val) c.928A>G (p.Met310Val) c.826A>G (p.Met276Val) c.790A>G (p.Met264Val) c.631A>G (p.Met211Val) | gnomAD v4 |
1 | g.173909858T>G | CA343774563 | SERPINC1 | c.847A>C (p.Met283Leu) n.498A>C c.559+2006A>C (n.559+2006A>C) c.703A>C (p.Met235Leu) c.970A>C (p.Met324Leu) c.928A>C (p.Met310Leu) c.826A>C (p.Met276Leu) c.790A>C (p.Met264Leu) c.631A>C (p.Met211Leu) | |
1 | g.173909859A>C | CA421942754 | SERPINC1 | c.846T>G (p.Ser282=) n.497T>G c.559+2005T>G (n.559+2005T>G) c.702T>G (p.Ser234=) c.969T>G (p.Ser323=) c.927T>G (p.Ser309=) c.825T>G (p.Ser275=) c.789T>G (p.Ser263=) c.630T>G (p.Ser210=) | |
1 | g.173909859A>G | CA421942755 | SERPINC1 | c.846T>C (p.Ser282=) n.497T>C c.559+2005T>C (n.559+2005T>C) c.702T>C (p.Ser234=) c.969T>C (p.Ser323=) c.927T>C (p.Ser309=) c.825T>C (p.Ser275=) c.789T>C (p.Ser263=) c.630T>C (p.Ser210=) | gnomAD v4 |
1 | g.173909859A>T | CA421942756 | SERPINC1 | c.846T>A (p.Ser282=) n.497T>A c.559+2005T>A (n.559+2005T>A) c.702T>A (p.Ser234=) c.969T>A (p.Ser323=) c.927T>A (p.Ser309=) c.825T>A (p.Ser275=) c.789T>A (p.Ser263=) c.630T>A (p.Ser210=) | gnomAD v4 |
1 | g.173909860G>A | CA343774565 | SERPINC1 | c.845C>T (p.Ser282Phe) n.496C>T c.559+2004C>T (n.559+2004C>T) c.701C>T (p.Ser234Phe) c.968C>T (p.Ser323Phe) c.926C>T (p.Ser309Phe) c.824C>T (p.Ser275Phe) c.788C>T (p.Ser263Phe) c.629C>T (p.Ser210Phe) | |
1 | g.173909860G>C | CA343774566 | SERPINC1 | c.845C>G (p.Ser282Cys) n.496C>G c.559+2004C>G (n.559+2004C>G) c.701C>G (p.Ser234Cys) c.968C>G (p.Ser323Cys) c.926C>G (p.Ser309Cys) c.824C>G (p.Ser275Cys) c.788C>G (p.Ser263Cys) c.629C>G (p.Ser210Cys) | |
1 | g.173909860G>T | CA343774567 | SERPINC1 | c.845C>A (p.Ser282Tyr) n.496C>A c.559+2004C>A (n.559+2004C>A) c.701C>A (p.Ser234Tyr) c.968C>A (p.Ser323Tyr) c.926C>A (p.Ser309Tyr) c.824C>A (p.Ser275Tyr) c.788C>A (p.Ser263Tyr) c.629C>A (p.Ser210Tyr) | |
1 | g.173909860_173909862delinsGAT | CA1207937024 | SERPINC1 | c.843_845delinsATC (p.Ala281=) n.494_496delinsATC c.559+2002_559+2004delinsATC (n.559+2002_559+2004delinsATC) c.699_701delinsATC (p.Ala233=) c.966_968delinsATC (p.Ala322=) c.924_926delinsATC (p.Ala308=) c.822_824delinsATC (p.Ala274=) c.786_788delinsATC (p.Ala262=) c.627_629delinsATC (p.Ala209=) | |
1 | g.173909861A>C | CA343774571 | SERPINC1 | c.844T>G (p.Ser282Ala) n.495T>G c.559+2003T>G (n.559+2003T>G) c.700T>G (p.Ser234Ala) c.967T>G (p.Ser323Ala) c.925T>G (p.Ser309Ala) c.823T>G (p.Ser275Ala) c.787T>G (p.Ser263Ala) c.628T>G (p.Ser210Ala) | |
1 | g.173909861A>G | CA343774573 | SERPINC1 | c.844T>C (p.Ser282Pro) n.495T>C c.559+2003T>C (n.559+2003T>C) c.700T>C (p.Ser234Pro) c.967T>C (p.Ser323Pro) c.925T>C (p.Ser309Pro) c.823T>C (p.Ser275Pro) c.787T>C (p.Ser263Pro) c.628T>C (p.Ser210Pro) | gnomAD v4 |
1 | g.173909861A>T | CA343774569 | SERPINC1 | c.844T>A (p.Ser282Thr) n.495T>A c.559+2003T>A (n.559+2003T>A) c.700T>A (p.Ser234Thr) c.967T>A (p.Ser323Thr) c.925T>A (p.Ser309Thr) c.823T>A (p.Ser275Thr) c.787T>A (p.Ser263Thr) c.628T>A (p.Ser210Thr) | gnomAD v4 |
1 | g.173909861_173909862del | CA916341715 | SERPINC1 | c.843_844del (p.Ser282TyrfsTer15) n.494_495del c.559+2002_559+2003del (n.559+2002_559+2003del) c.699_700del (p.Ser234TyrfsTer15) c.966_967del (p.Ser323TyrfsTer15) c.924_925del (p.Ser309TyrfsTer15) c.822_823del (p.Ser275TyrfsTer15) c.786_787del (p.Ser263TyrfsTer15) c.627_628del (p.Ser210TyrfsTer15) | dbSNP |
1 | g.173909862T>A | CA421942757 | SERPINC1 | c.843A>T (p.Ala281=) n.494A>T c.559+2002A>T (n.559+2002A>T) c.699A>T (p.Ala233=) c.966A>T (p.Ala322=) c.924A>T (p.Ala308=) c.822A>T (p.Ala274=) c.786A>T (p.Ala262=) c.627A>T (p.Ala209=) | |
1 | g.173909862T>C | CA421942758 | SERPINC1 | c.843A>G (p.Ala281=) n.494A>G c.559+2002A>G (n.559+2002A>G) c.699A>G (p.Ala233=) c.966A>G (p.Ala322=) c.924A>G (p.Ala308=) c.822A>G (p.Ala274=) c.786A>G (p.Ala262=) c.627A>G (p.Ala209=) | |
1 | g.173909862T>G | CA421942759 | SERPINC1 | c.843A>C (p.Ala281=) n.494A>C c.559+2002A>C (n.559+2002A>C) c.699A>C (p.Ala233=) c.966A>C (p.Ala322=) c.924A>C (p.Ala308=) c.822A>C (p.Ala274=) c.786A>C (p.Ala262=) c.627A>C (p.Ala209=) | |
1 | g.173909863G>A | CA343774574 | SERPINC1 | c.842C>T (p.Ala281Val) n.493C>T c.559+2001C>T (n.559+2001C>T) c.698C>T (p.Ala233Val) c.965C>T (p.Ala322Val) c.923C>T (p.Ala308Val) c.821C>T (p.Ala274Val) c.785C>T (p.Ala262Val) c.626C>T (p.Ala209Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909863G>C | CA343774576 | SERPINC1 | c.842C>G (p.Ala281Gly) n.493C>G c.559+2001C>G (n.559+2001C>G) c.698C>G (p.Ala233Gly) c.965C>G (p.Ala322Gly) c.923C>G (p.Ala308Gly) c.821C>G (p.Ala274Gly) c.785C>G (p.Ala262Gly) c.626C>G (p.Ala209Gly) | |
1 | g.173909863G= | CA1207937025 | SERPINC1 | c.842C= (p.Ala281=) n.493C= c.559+2001C= (n.559+2001C=) c.698C= (p.Ala233=) c.965C= (p.Ala322=) c.923C= (p.Ala308=) c.821C= (p.Ala274=) c.785C= (p.Ala262=) c.626C= (p.Ala209=) | |
1 | g.173909863G>T | CA343774578 | SERPINC1 | c.842C>A (p.Ala281Glu) n.493C>A c.559+2001C>A (n.559+2001C>A) c.698C>A (p.Ala233Glu) c.965C>A (p.Ala322Glu) c.923C>A (p.Ala308Glu) c.821C>A (p.Ala274Glu) c.785C>A (p.Ala262Glu) c.626C>A (p.Ala209Glu) | |
1 | g.173909864C>A | CA343774580 | SERPINC1 | c.841G>T (p.Ala281Ser) n.492G>T c.559+2000G>T (n.559+2000G>T) c.697G>T (p.Ala233Ser) c.964G>T (p.Ala322Ser) c.922G>T (p.Ala308Ser) c.820G>T (p.Ala274Ser) c.784G>T (p.Ala262Ser) c.625G>T (p.Ala209Ser) | |
1 | g.173909864C>G | CA343774582 | SERPINC1 | c.841G>C (p.Ala281Pro) n.492G>C c.559+2000G>C (n.559+2000G>C) c.697G>C (p.Ala233Pro) c.964G>C (p.Ala322Pro) c.922G>C (p.Ala308Pro) c.820G>C (p.Ala274Pro) c.784G>C (p.Ala262Pro) c.625G>C (p.Ala209Pro) | gnomAD v4 |
1 | g.173909864C>T | CA343774584 | SERPINC1 | c.841G>A (p.Ala281Thr) n.492G>A c.559+2000G>A (n.559+2000G>A) c.697G>A (p.Ala233Thr) c.964G>A (p.Ala322Thr) c.922G>A (p.Ala308Thr) c.820G>A (p.Ala274Thr) c.784G>A (p.Ala262Thr) c.625G>A (p.Ala209Thr) | gnomAD v4 |
1 | g.173909864_173909865insAC | CA916341717 | SERPINC1 | c.841_842insTG (p.Ala281ValfsTer4) n.492_493insTG c.559+2000_559+2001insTG (n.559+2000_559+2001insTG) c.697_698insTG (p.Ala233ValfsTer4) c.964_965insTG (p.Ala322ValfsTer4) c.922_923insTG (p.Ala308ValfsTer4) c.820_821insTG (p.Ala274ValfsTer4) c.784_785insTG (p.Ala262ValfsTer4) c.625_626insTG (p.Ala209ValfsTer4) | dbSNP |
1 | g.173909865del | CA2582342983 | SERPINC1 | c.840del (p.Ala281HisfsTer3) n.491del c.559+1999del (n.559+1999del) c.696del (p.Ala233HisfsTer3) c.963del (p.Ala322HisfsTer3) c.921del (p.Ala308HisfsTer3) c.819del (p.Ala274HisfsTer3) c.783del (p.Ala262HisfsTer3) c.624del (p.Ala209HisfsTer3) | |
1 | g.173909865T>A | CA421942760 | SERPINC1 | c.840A>T (p.Ser280=) n.491A>T c.559+1999A>T (n.559+1999A>T) c.696A>T (p.Ser232=) c.963A>T (p.Ser321=) c.921A>T (p.Ser307=) c.819A>T (p.Ser273=) c.783A>T (p.Ser261=) c.624A>T (p.Ser208=) | |
1 | g.173909865T>C | CA421942761 | SERPINC1 | c.840A>G (p.Ser280=) n.491A>G c.559+1999A>G (n.559+1999A>G) c.696A>G (p.Ser232=) c.963A>G (p.Ser321=) c.921A>G (p.Ser307=) c.819A>G (p.Ser273=) c.783A>G (p.Ser261=) c.624A>G (p.Ser208=) | dbSNP |
1 | g.173909865T>G | CA421942762 | SERPINC1 | c.840A>C (p.Ser280=) n.491A>C c.559+1999A>C (n.559+1999A>C) c.696A>C (p.Ser232=) c.963A>C (p.Ser321=) c.921A>C (p.Ser307=) c.819A>C (p.Ser273=) c.783A>C (p.Ser261=) c.624A>C (p.Ser208=) | |
1 | g.173909866G>A | CA343774586 | SERPINC1 | c.839C>T (p.Ser280Leu) n.490C>T c.559+1998C>T (n.559+1998C>T) c.695C>T (p.Ser232Leu) c.962C>T (p.Ser321Leu) c.920C>T (p.Ser307Leu) c.818C>T (p.Ser273Leu) c.782C>T (p.Ser261Leu) c.623C>T (p.Ser208Leu) | |
1 | g.173909866G>C | CA343774589 | SERPINC1 | c.839C>G (p.Ser280Ter) n.490C>G c.559+1998C>G (n.559+1998C>G) c.695C>G (p.Ser232Ter) c.962C>G (p.Ser321Ter) c.920C>G (p.Ser307Ter) c.818C>G (p.Ser273Ter) c.782C>G (p.Ser261Ter) c.623C>G (p.Ser208Ter) | dbSNP |
1 | g.173909866G>T | CA343774587 | SERPINC1 | c.839C>A (p.Ser280Ter) n.490C>A c.559+1998C>A (n.559+1998C>A) c.695C>A (p.Ser232Ter) c.962C>A (p.Ser321Ter) c.920C>A (p.Ser307Ter) c.818C>A (p.Ser273Ter) c.782C>A (p.Ser261Ter) c.623C>A (p.Ser208Ter) | gnomAD v4 |
1 | g.173909867A= | CA1207937026 | SERPINC1 | c.838T= (p.Ser280=) n.489T= c.559+1997T= (n.559+1997T=) c.694T= (p.Ser232=) c.961T= (p.Ser321=) c.919T= (p.Ser307=) c.817T= (p.Ser273=) c.781T= (p.Ser261=) c.622T= (p.Ser208=) | |
1 | g.173909867A>C | CA343774591 | SERPINC1 | c.838T>G (p.Ser280Ala) n.489T>G c.559+1997T>G (n.559+1997T>G) c.694T>G (p.Ser232Ala) c.961T>G (p.Ser321Ala) c.919T>G (p.Ser307Ala) c.817T>G (p.Ser273Ala) c.781T>G (p.Ser261Ala) c.622T>G (p.Ser208Ala) | |
1 | g.173909867A>G | CA343774592 | SERPINC1 | c.838T>C (p.Ser280Pro) n.489T>C c.559+1997T>C (n.559+1997T>C) c.694T>C (p.Ser232Pro) c.961T>C (p.Ser321Pro) c.919T>C (p.Ser307Pro) c.817T>C (p.Ser273Pro) c.781T>C (p.Ser261Pro) c.622T>C (p.Ser208Pro) | dbSNP |
1 | g.173909867A>T | CA343774594 | SERPINC1 | c.838T>A (p.Ser280Thr) n.489T>A c.559+1997T>A (n.559+1997T>A) c.694T>A (p.Ser232Thr) c.961T>A (p.Ser321Thr) c.919T>A (p.Ser307Thr) c.817T>A (p.Ser273Thr) c.781T>A (p.Ser261Thr) c.622T>A (p.Ser208Thr) | |
1 | g.173909868A= | CA1207937027 | SERPINC1 | c.837T= (p.Cys279=) n.488T= c.559+1996T= (n.559+1996T=) c.693T= (p.Cys231=) c.960T= (p.Cys320=) c.918T= (p.Cys306=) c.816T= (p.Cys272=) c.780T= (p.Cys260=) c.621T= (p.Cys207=) | |
1 | g.173909868A>C | CA343774596 | SERPINC1 | c.837T>G (p.Cys279Trp) n.488T>G c.559+1996T>G (n.559+1996T>G) c.693T>G (p.Cys231Trp) c.960T>G (p.Cys320Trp) c.918T>G (p.Cys306Trp) c.816T>G (p.Cys272Trp) c.780T>G (p.Cys260Trp) c.621T>G (p.Cys207Trp) | dbSNP |
1 | g.173909868A>G | CA421942763 | SERPINC1 | c.837T>C (p.Cys279=) n.488T>C c.559+1996T>C (n.559+1996T>C) c.693T>C (p.Cys231=) c.960T>C (p.Cys320=) c.918T>C (p.Cys306=) c.816T>C (p.Cys272=) c.780T>C (p.Cys260=) c.621T>C (p.Cys207=) | dbSNP |
1 | g.173909868A>T | CA343774597 | SERPINC1 | c.837T>A (p.Cys279Ter) n.488T>A c.559+1996T>A (n.559+1996T>A) c.693T>A (p.Cys231Ter) c.960T>A (p.Cys320Ter) c.918T>A (p.Cys306Ter) c.816T>A (p.Cys272Ter) c.780T>A (p.Cys260Ter) c.621T>A (p.Cys207Ter) | |
1 | g.173909869C>A | CA343774602 | SERPINC1 | c.836G>T (p.Cys279Phe) n.487G>T c.559+1995G>T (n.559+1995G>T) c.692G>T (p.Cys231Phe) c.959G>T (p.Cys320Phe) c.917G>T (p.Cys306Phe) c.815G>T (p.Cys272Phe) c.779G>T (p.Cys260Phe) c.620G>T (p.Cys207Phe) | |
1 | g.173909869C>G | CA343774601 | SERPINC1 | c.836G>C (p.Cys279Ser) n.487G>C c.559+1995G>C (n.559+1995G>C) c.692G>C (p.Cys231Ser) c.959G>C (p.Cys320Ser) c.917G>C (p.Cys306Ser) c.815G>C (p.Cys272Ser) c.779G>C (p.Cys260Ser) c.620G>C (p.Cys207Ser) | |
1 | g.173909869C>T | CA343774599 | SERPINC1 | c.836G>A (p.Cys279Tyr) n.487G>A c.559+1995G>A (n.559+1995G>A) c.692G>A (p.Cys231Tyr) c.959G>A (p.Cys320Tyr) c.917G>A (p.Cys306Tyr) c.815G>A (p.Cys272Tyr) c.779G>A (p.Cys260Tyr) c.620G>A (p.Cys207Tyr) | |
1 | g.173909870A>C | CA343774607 | SERPINC1 | c.835T>G (p.Cys279Gly) n.486T>G c.559+1994T>G (n.559+1994T>G) c.691T>G (p.Cys231Gly) c.958T>G (p.Cys320Gly) c.916T>G (p.Cys306Gly) c.814T>G (p.Cys272Gly) c.778T>G (p.Cys260Gly) c.619T>G (p.Cys207Gly) | |
1 | g.173909870A>G | CA343774606 | SERPINC1 | c.835T>C (p.Cys279Arg) n.486T>C c.559+1994T>C (n.559+1994T>C) c.691T>C (p.Cys231Arg) c.958T>C (p.Cys320Arg) c.916T>C (p.Cys306Arg) c.814T>C (p.Cys272Arg) c.778T>C (p.Cys260Arg) c.619T>C (p.Cys207Arg) | |
1 | g.173909870A>T | CA343774608 | SERPINC1 | c.835T>A (p.Cys279Ser) n.486T>A c.559+1994T>A (n.559+1994T>A) c.691T>A (p.Cys231Ser) c.958T>A (p.Cys320Ser) c.916T>A (p.Cys306Ser) c.814T>A (p.Cys272Ser) c.778T>A (p.Cys260Ser) c.619T>A (p.Cys207Ser) | |
1 | g.173909871C>A | CA1251328 | SERPINC1 | c.834G>T (p.Ser278=) n.485G>T c.559+1993G>T (n.559+1993G>T) c.690G>T (p.Ser230=) c.957G>T (p.Ser319=) c.915G>T (p.Ser305=) c.813G>T (p.Ser271=) c.777G>T (p.Ser259=) c.618G>T (p.Ser206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909871C= | CA1207937028 | SERPINC1 | c.834G= (p.Ser278=) n.485G= c.559+1993G= (n.559+1993G=) c.690G= (p.Ser230=) c.957G= (p.Ser319=) c.915G= (p.Ser305=) c.813G= (p.Ser271=) c.777G= (p.Ser259=) c.618G= (p.Ser206=) | |
1 | g.173909871C>G | CA421942764 | SERPINC1 | c.834G>C (p.Ser278=) n.485G>C c.559+1993G>C (n.559+1993G>C) c.690G>C (p.Ser230=) c.957G>C (p.Ser319=) c.915G>C (p.Ser305=) c.813G>C (p.Ser271=) c.777G>C (p.Ser259=) c.618G>C (p.Ser206=) | |
1 | g.173909871C>T | CA1251329 | SERPINC1 | c.834G>A (p.Ser278=) n.485G>A c.559+1993G>A (n.559+1993G>A) c.690G>A (p.Ser230=) c.957G>A (p.Ser319=) c.915G>A (p.Ser305=) c.813G>A (p.Ser271=) c.777G>A (p.Ser259=) c.618G>A (p.Ser206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909872G>A | CA1251330 | SERPINC1 | c.833C>T (p.Ser278Leu) n.484C>T c.559+1992C>T (n.559+1992C>T) c.689C>T (p.Ser230Leu) c.956C>T (p.Ser319Leu) c.914C>T (p.Ser305Leu) c.812C>T (p.Ser271Leu) c.776C>T (p.Ser259Leu) c.617C>T (p.Ser206Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909872G>C | CA343774612 | SERPINC1 | c.833C>G (p.Ser278Trp) n.484C>G c.559+1992C>G (n.559+1992C>G) c.689C>G (p.Ser230Trp) c.956C>G (p.Ser319Trp) c.914C>G (p.Ser305Trp) c.812C>G (p.Ser271Trp) c.776C>G (p.Ser259Trp) c.617C>G (p.Ser206Trp) | |
1 | g.173909872G= | CA1207937029 | SERPINC1 | c.833C= (p.Ser278=) n.484C= c.559+1992C= (n.559+1992C=) c.689C= (p.Ser230=) c.956C= (p.Ser319=) c.914C= (p.Ser305=) c.812C= (p.Ser271=) c.776C= (p.Ser259=) c.617C= (p.Ser206=) | |
1 | g.173909872G>T | CA343774614 | SERPINC1 | c.833C>A (p.Ser278Ter) n.484C>A c.559+1992C>A (n.559+1992C>A) c.689C>A (p.Ser230Ter) c.956C>A (p.Ser319Ter) c.914C>A (p.Ser305Ter) c.812C>A (p.Ser271Ter) c.776C>A (p.Ser259Ter) c.617C>A (p.Ser206Ter) | |
1 | g.173909873A>C | CA343774616 | SERPINC1 | c.832T>G (p.Ser278Ala) n.483T>G c.559+1991T>G (n.559+1991T>G) c.688T>G (p.Ser230Ala) c.955T>G (p.Ser319Ala) c.913T>G (p.Ser305Ala) c.811T>G (p.Ser271Ala) c.775T>G (p.Ser259Ala) c.616T>G (p.Ser206Ala) | |
1 | g.173909873A>G | CA343774618 | SERPINC1 | c.832T>C (p.Ser278Pro) n.483T>C c.559+1991T>C (n.559+1991T>C) c.688T>C (p.Ser230Pro) c.955T>C (p.Ser319Pro) c.913T>C (p.Ser305Pro) c.811T>C (p.Ser271Pro) c.775T>C (p.Ser259Pro) c.616T>C (p.Ser206Pro) | |
1 | g.173909873A>T | CA343774619 | SERPINC1 | c.832T>A (p.Ser278Thr) n.483T>A c.559+1991T>A (n.559+1991T>A) c.688T>A (p.Ser230Thr) c.955T>A (p.Ser319Thr) c.913T>A (p.Ser305Thr) c.811T>A (p.Ser271Thr) c.775T>A (p.Ser259Thr) c.616T>A (p.Ser206Thr) | |
1 | g.173909873_173909875delinsACT | CA1207937030 | SERPINC1 | c.830_832delinsAGT (p.Glu277=) n.481_483delinsAGT c.559+1989_559+1991delinsAGT (n.559+1989_559+1991delinsAGT) c.686_688delinsAGT (p.Glu229=) c.953_955delinsAGT (p.Glu318=) c.911_913delinsAGT (p.Glu304=) c.809_811delinsAGT (p.Glu270=) c.773_775delinsAGT (p.Glu258=) c.614_616delinsAGT (p.Glu205=) | |
1 | g.173909874C>A | CA343774621 | SERPINC1 | c.831G>T (p.Glu277Asp) n.482G>T c.559+1990G>T (n.559+1990G>T) c.687G>T (p.Glu229Asp) c.954G>T (p.Glu318Asp) c.912G>T (p.Glu304Asp) c.810G>T (p.Glu270Asp) c.774G>T (p.Glu258Asp) c.615G>T (p.Glu205Asp) | |
1 | g.173909874C>G | CA343774622 | SERPINC1 | c.831G>C (p.Glu277Asp) n.482G>C c.559+1990G>C (n.559+1990G>C) c.687G>C (p.Glu229Asp) c.954G>C (p.Glu318Asp) c.912G>C (p.Glu304Asp) c.810G>C (p.Glu270Asp) c.774G>C (p.Glu258Asp) c.615G>C (p.Glu205Asp) | |
1 | g.173909874C>T | CA421942765 | SERPINC1 | c.831G>A (p.Glu277=) n.482G>A c.559+1990G>A (n.559+1990G>A) c.687G>A (p.Glu229=) c.954G>A (p.Glu318=) c.912G>A (p.Glu304=) c.810G>A (p.Glu270=) c.774G>A (p.Glu258=) c.615G>A (p.Glu205=) | |
1 | g.173909874_173909875delinsCT | CA1207937031 | SERPINC1 | c.830_831delinsAG (p.Glu277=) n.481_482delinsAG c.559+1989_559+1990delinsAG (n.559+1989_559+1990delinsAG) c.686_687delinsAG (p.Glu229=) c.953_954delinsAG (p.Glu318=) c.911_912delinsAG (p.Glu304=) c.809_810delinsAG (p.Glu270=) c.773_774delinsAG (p.Glu258=) c.614_615delinsAG (p.Glu205=) | |
1 | g.173909877_173909878del | CA1139771046 | SERPINC1 | c.830_831del (p.Glu277ValfsTer20) n.481_482del c.559+1989_559+1990del (n.559+1989_559+1990del) c.686_687del (p.Glu229ValfsTer20) c.953_954del (p.Glu318ValfsTer20) c.911_912del (p.Glu304ValfsTer20) c.809_810del (p.Glu270ValfsTer20) c.773_774del (p.Glu258ValfsTer20) c.614_615del (p.Glu205ValfsTer20) | ClinVar dbSNP |
1 | g.173909875del | CA915943669 | SERPINC1 | c.830del (p.Glu277GlyfsTer7) n.481del c.559+1989del (n.559+1989del) c.686del (p.Glu229GlyfsTer7) c.953del (p.Glu318GlyfsTer7) c.911del (p.Glu304GlyfsTer7) c.809del (p.Glu270GlyfsTer7) c.773del (p.Glu258GlyfsTer7) c.614del (p.Glu205GlyfsTer7) | ClinVar dbSNP |
1 | g.173909875T>A | CA343774624 | SERPINC1 | c.830A>T (p.Glu277Val) n.481A>T c.559+1989A>T (n.559+1989A>T) c.686A>T (p.Glu229Val) c.953A>T (p.Glu318Val) c.911A>T (p.Glu304Val) c.809A>T (p.Glu270Val) c.773A>T (p.Glu258Val) c.614A>T (p.Glu205Val) | |
1 | g.173909875T>C | CA343774626 | SERPINC1 | c.830A>G (p.Glu277Gly) n.481A>G c.559+1989A>G (n.559+1989A>G) c.686A>G (p.Glu229Gly) c.953A>G (p.Glu318Gly) c.911A>G (p.Glu304Gly) c.809A>G (p.Glu270Gly) c.773A>G (p.Glu258Gly) c.614A>G (p.Glu205Gly) | |
1 | g.173909875T>G | CA343774627 | SERPINC1 | c.830A>C (p.Glu277Ala) n.481A>C c.559+1989A>C (n.559+1989A>C) c.686A>C (p.Glu229Ala) c.953A>C (p.Glu318Ala) c.911A>C (p.Glu304Ala) c.809A>C (p.Glu270Ala) c.773A>C (p.Glu258Ala) c.614A>C (p.Glu205Ala) | |
1 | g.173909876C>A | CA343774633 | SERPINC1 | c.829G>T (p.Glu277Ter) n.480G>T c.559+1988G>T (n.559+1988G>T) c.685G>T (p.Glu229Ter) c.952G>T (p.Glu318Ter) c.910G>T (p.Glu304Ter) c.808G>T (p.Glu270Ter) c.772G>T (p.Glu258Ter) c.613G>T (p.Glu205Ter) | |
1 | g.173909876C= | CA1207937032 | SERPINC1 | c.829G= (p.Glu277=) n.480G= c.559+1988G= (n.559+1988G=) c.685G= (p.Glu229=) c.952G= (p.Glu318=) c.910G= (p.Glu304=) c.808G= (p.Glu270=) c.772G= (p.Glu258=) c.613G= (p.Glu205=) | |
1 | g.173909876C>G | CA343774630 | SERPINC1 | c.829G>C (p.Glu277Gln) n.480G>C c.559+1988G>C (n.559+1988G>C) c.685G>C (p.Glu229Gln) c.952G>C (p.Glu318Gln) c.910G>C (p.Glu304Gln) c.808G>C (p.Glu270Gln) c.772G>C (p.Glu258Gln) c.613G>C (p.Glu205Gln) | dbSNP |
1 | g.173909876C>T | CA343774632 | SERPINC1 | c.829G>A (p.Glu277Lys) n.480G>A c.559+1988G>A (n.559+1988G>A) c.685G>A (p.Glu229Lys) c.952G>A (p.Glu318Lys) c.910G>A (p.Glu304Lys) c.808G>A (p.Glu270Lys) c.772G>A (p.Glu258Lys) c.613G>A (p.Glu205Lys) | |
1 | g.173909877T>A | CA421942766 | SERPINC1 | c.828A>T (p.Gly276=) n.479A>T c.559+1987A>T (n.559+1987A>T) c.684A>T (p.Gly228=) c.951A>T (p.Gly317=) c.909A>T (p.Gly303=) c.807A>T (p.Gly269=) c.771A>T (p.Gly257=) c.612A>T (p.Gly204=) | |
1 | g.173909877T>C | CA421942767 | SERPINC1 | c.828A>G (p.Gly276=) n.479A>G c.559+1987A>G (n.559+1987A>G) c.684A>G (p.Gly228=) c.951A>G (p.Gly317=) c.909A>G (p.Gly303=) c.807A>G (p.Gly269=) c.771A>G (p.Gly257=) c.612A>G (p.Gly204=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909877T>G | CA421942768 | SERPINC1 | c.828A>C (p.Gly276=) n.479A>C c.559+1987A>C (n.559+1987A>C) c.684A>C (p.Gly228=) c.951A>C (p.Gly317=) c.909A>C (p.Gly303=) c.807A>C (p.Gly269=) c.771A>C (p.Gly257=) c.612A>C (p.Gly204=) | dbSNP |
1 | g.173909877T= | CA1207937033 | SERPINC1 | c.828A= (p.Gly276=) n.479A= c.559+1987A= (n.559+1987A=) c.684A= (p.Gly228=) c.951A= (p.Gly317=) c.909A= (p.Gly303=) c.807A= (p.Gly269=) c.771A= (p.Gly257=) c.612A= (p.Gly204=) | |
1 | g.173909878C>A | CA343774636 | SERPINC1 | c.827G>T (p.Gly276Val) n.478G>T c.559+1986G>T (n.559+1986G>T) c.683G>T (p.Gly228Val) c.950G>T (p.Gly317Val) c.908G>T (p.Gly303Val) c.806G>T (p.Gly269Val) c.770G>T (p.Gly257Val) c.611G>T (p.Gly204Val) | |
1 | g.173909878C>G | CA343774637 | SERPINC1 | c.827G>C (p.Gly276Ala) n.478G>C c.559+1986G>C (n.559+1986G>C) c.683G>C (p.Gly228Ala) c.950G>C (p.Gly317Ala) c.908G>C (p.Gly303Ala) c.806G>C (p.Gly269Ala) c.770G>C (p.Gly257Ala) c.611G>C (p.Gly204Ala) | COSMIC |
1 | g.173909878C>T | CA343774639 | SERPINC1 | c.827G>A (p.Gly276Glu) n.478G>A c.559+1986G>A (n.559+1986G>A) c.683G>A (p.Gly228Glu) c.950G>A (p.Gly317Glu) c.908G>A (p.Gly303Glu) c.806G>A (p.Gly269Glu) c.770G>A (p.Gly257Glu) c.611G>A (p.Gly204Glu) | |
1 | g.173909879C>A | CA343774641 | SERPINC1 | c.826G>T (p.Gly276Ter) n.477G>T c.559+1985G>T (n.559+1985G>T) c.682G>T (p.Gly228Ter) c.949G>T (p.Gly317Ter) c.907G>T (p.Gly303Ter) c.805G>T (p.Gly269Ter) c.769G>T (p.Gly257Ter) c.610G>T (p.Gly204Ter) | |
1 | g.173909879C>G | CA343774643 | SERPINC1 | c.826G>C (p.Gly276Arg) n.477G>C c.559+1985G>C (n.559+1985G>C) c.682G>C (p.Gly228Arg) c.949G>C (p.Gly317Arg) c.907G>C (p.Gly303Arg) c.805G>C (p.Gly269Arg) c.769G>C (p.Gly257Arg) c.610G>C (p.Gly204Arg) | |
1 | g.173909879C>T | CA343774644 | SERPINC1 | c.826G>A (p.Gly276Arg) n.477G>A c.559+1985G>A (n.559+1985G>A) c.682G>A (p.Gly228Arg) c.949G>A (p.Gly317Arg) c.907G>A (p.Gly303Arg) c.805G>A (p.Gly269Arg) c.769G>A (p.Gly257Arg) c.610G>A (p.Gly204Arg) | |
1 | g.173909880A>C | CA343774646 | SERPINC1 | c.825T>G (p.Asp275Glu) n.476T>G c.559+1984T>G (n.559+1984T>G) c.681T>G (p.Asp227Glu) c.948T>G (p.Asp316Glu) c.906T>G (p.Asp302Glu) c.804T>G (p.Asp268Glu) c.768T>G (p.Asp256Glu) c.609T>G (p.Asp203Glu) | |
1 | g.173909880A>G | CA421942769 | SERPINC1 | c.825T>C (p.Asp275=) n.476T>C c.559+1984T>C (n.559+1984T>C) c.681T>C (p.Asp227=) c.948T>C (p.Asp316=) c.906T>C (p.Asp302=) c.804T>C (p.Asp268=) c.768T>C (p.Asp256=) c.609T>C (p.Asp203=) | |
1 | g.173909880A>T | CA343774648 | SERPINC1 | c.825T>A (p.Asp275Glu) n.476T>A c.559+1984T>A (n.559+1984T>A) c.681T>A (p.Asp227Glu) c.948T>A (p.Asp316Glu) c.906T>A (p.Asp302Glu) c.804T>A (p.Asp268Glu) c.768T>A (p.Asp256Glu) c.609T>A (p.Asp203Glu) | |
1 | g.173909881T>A | CA343774650 | SERPINC1 | c.824A>T (p.Asp275Val) n.475A>T c.559+1983A>T (n.559+1983A>T) c.680A>T (p.Asp227Val) c.947A>T (p.Asp316Val) c.905A>T (p.Asp302Val) c.803A>T (p.Asp268Val) c.767A>T (p.Asp256Val) c.608A>T (p.Asp203Val) | |
1 | g.173909881T>C | CA343774652 | SERPINC1 | c.824A>G (p.Asp275Gly) n.475A>G c.559+1983A>G (n.559+1983A>G) c.680A>G (p.Asp227Gly) c.947A>G (p.Asp316Gly) c.905A>G (p.Asp302Gly) c.803A>G (p.Asp268Gly) c.767A>G (p.Asp256Gly) c.608A>G (p.Asp203Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909881T>G | CA343774653 | SERPINC1 | c.824A>C (p.Asp275Ala) n.475A>C c.559+1983A>C (n.559+1983A>C) c.680A>C (p.Asp227Ala) c.947A>C (p.Asp316Ala) c.905A>C (p.Asp302Ala) c.803A>C (p.Asp268Ala) c.767A>C (p.Asp256Ala) c.608A>C (p.Asp203Ala) | |
1 | g.173909881T= | CA1207937034 | SERPINC1 | c.824A= (p.Asp275=) n.475A= c.559+1983A= (n.559+1983A=) c.680A= (p.Asp227=) c.947A= (p.Asp316=) c.905A= (p.Asp302=) c.803A= (p.Asp268=) c.767A= (p.Asp256=) c.608A= (p.Asp203=) | |
1 | g.173909882C>A | CA343774659 | SERPINC1 | c.823G>T (p.Asp275Tyr) n.474G>T c.559+1982G>T (n.559+1982G>T) c.679G>T (p.Asp227Tyr) c.946G>T (p.Asp316Tyr) c.904G>T (p.Asp302Tyr) c.802G>T (p.Asp268Tyr) c.766G>T (p.Asp256Tyr) c.607G>T (p.Asp203Tyr) | |
1 | g.173909882C>G | CA343774657 | SERPINC1 | c.823G>C (p.Asp275His) n.474G>C c.559+1982G>C (n.559+1982G>C) c.679G>C (p.Asp227His) c.946G>C (p.Asp316His) c.904G>C (p.Asp302His) c.802G>C (p.Asp268His) c.766G>C (p.Asp256His) c.607G>C (p.Asp203His) | |
1 | g.173909882C>T | CA343774655 | SERPINC1 | c.823G>A (p.Asp275Asn) n.474G>A c.559+1982G>A (n.559+1982G>A) c.679G>A (p.Asp227Asn) c.946G>A (p.Asp316Asn) c.904G>A (p.Asp302Asn) c.802G>A (p.Asp268Asn) c.766G>A (p.Asp256Asn) c.607G>A (p.Asp203Asn) | |
1 | g.173909883A= | CA1148268633 | SERPINC1 | c.822T= (p.Ala274=) n.473T= c.559+1981T= (n.559+1981T=) c.678T= (p.Ala226=) c.945T= (p.Ala315=) c.903T= (p.Ala301=) c.801T= (p.Ala267=) c.765T= (p.Ala255=) c.606T= (p.Ala202=) | |
1 | g.173909883A>C | CA421942774 | SERPINC1 | c.822T>G (p.Ala274=) n.473T>G c.559+1981T>G (n.559+1981T>G) c.678T>G (p.Ala226=) c.945T>G (p.Ala315=) c.903T>G (p.Ala301=) c.801T>G (p.Ala267=) c.765T>G (p.Ala255=) c.606T>G (p.Ala202=) | |
1 | g.173909883A>G | CA32780428 | SERPINC1 | c.822T>C (p.Ala274=) n.473T>C c.559+1981T>C (n.559+1981T>C) c.678T>C (p.Ala226=) c.945T>C (p.Ala315=) c.903T>C (p.Ala301=) c.801T>C (p.Ala267=) c.765T>C (p.Ala255=) c.606T>C (p.Ala202=) | dbSNP |
1 | g.173909883A>T | CA421942773 | SERPINC1 | c.822T>A (p.Ala274=) n.473T>A c.559+1981T>A (n.559+1981T>A) c.678T>A (p.Ala226=) c.945T>A (p.Ala315=) c.903T>A (p.Ala301=) c.801T>A (p.Ala267=) c.765T>A (p.Ala255=) c.606T>A (p.Ala202=) | |
1 | g.173909884G>A | CA343774662 | SERPINC1 | c.821C>T (p.Ala274Val) n.472C>T c.559+1980C>T (n.559+1980C>T) c.677C>T (p.Ala226Val) c.944C>T (p.Ala315Val) c.902C>T (p.Ala301Val) c.800C>T (p.Ala267Val) c.764C>T (p.Ala255Val) c.605C>T (p.Ala202Val) | dbSNP |
1 | g.173909884G>C | CA343774663 | SERPINC1 | c.821C>G (p.Ala274Gly) n.472C>G c.559+1980C>G (n.559+1980C>G) c.677C>G (p.Ala226Gly) c.944C>G (p.Ala315Gly) c.902C>G (p.Ala301Gly) c.800C>G (p.Ala267Gly) c.764C>G (p.Ala255Gly) c.605C>G (p.Ala202Gly) | |
1 | g.173909884G= | CA1207937035 | SERPINC1 | c.821C= (p.Ala274=) n.472C= c.559+1980C= (n.559+1980C=) c.677C= (p.Ala226=) c.944C= (p.Ala315=) c.902C= (p.Ala301=) c.800C= (p.Ala267=) c.764C= (p.Ala255=) c.605C= (p.Ala202=) | |
1 | g.173909884G>T | CA343774664 | SERPINC1 | c.821C>A (p.Ala274Asp) n.472C>A c.559+1980C>A (n.559+1980C>A) c.677C>A (p.Ala226Asp) c.944C>A (p.Ala315Asp) c.902C>A (p.Ala301Asp) c.800C>A (p.Ala267Asp) c.764C>A (p.Ala255Asp) c.605C>A (p.Ala202Asp) | |
1 | g.173909885C>A | CA343774666 | SERPINC1 | c.820G>T (p.Ala274Ser) n.471G>T c.559+1979G>T (n.559+1979G>T) c.676G>T (p.Ala226Ser) c.943G>T (p.Ala315Ser) c.901G>T (p.Ala301Ser) c.799G>T (p.Ala267Ser) c.763G>T (p.Ala255Ser) c.604G>T (p.Ala202Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909885C= | CA1207937036 | SERPINC1 | c.820G= (p.Ala274=) n.471G= c.559+1979G= (n.559+1979G=) c.676G= (p.Ala226=) c.943G= (p.Ala315=) c.901G= (p.Ala301=) c.799G= (p.Ala267=) c.763G= (p.Ala255=) c.604G= (p.Ala202=) | |
1 | g.173909885C>G | CA343774667 | SERPINC1 | c.820G>C (p.Ala274Pro) n.471G>C c.559+1979G>C (n.559+1979G>C) c.676G>C (p.Ala226Pro) c.943G>C (p.Ala315Pro) c.901G>C (p.Ala301Pro) c.799G>C (p.Ala267Pro) c.763G>C (p.Ala255Pro) c.604G>C (p.Ala202Pro) | |
1 | g.173909885C>T | CA343774669 | SERPINC1 | c.820G>A (p.Ala274Thr) n.471G>A c.559+1979G>A (n.559+1979G>A) c.676G>A (p.Ala226Thr) c.943G>A (p.Ala315Thr) c.901G>A (p.Ala301Thr) c.799G>A (p.Ala267Thr) c.763G>A (p.Ala255Thr) c.604G>A (p.Ala202Thr) | |
1 | g.173909886C>A | CA343774671 | SERPINC1 | c.819G>T (p.Lys273Asn) n.470G>T c.559+1978G>T (n.559+1978G>T) c.675G>T (p.Lys225Asn) c.942G>T (p.Lys314Asn) c.900G>T (p.Lys300Asn) c.798G>T (p.Lys266Asn) c.763-1G>T (n.763-1G>T) c.603G>T (p.Lys201Asn) | |
1 | g.173909886C>G | CA343774672 | SERPINC1 | c.819G>C (p.Lys273Asn) n.470G>C c.559+1978G>C (n.559+1978G>C) c.675G>C (p.Lys225Asn) c.942G>C (p.Lys314Asn) c.900G>C (p.Lys300Asn) c.798G>C (p.Lys266Asn) c.763-1G>C (n.763-1G>C) c.603G>C (p.Lys201Asn) | ClinVar dbSNP |
1 | g.173909886C>T | CA421942778 | SERPINC1 | c.819G>A (p.Lys273=) n.470G>A c.559+1978G>A (n.559+1978G>A) c.675G>A (p.Lys225=) c.942G>A (p.Lys314=) c.900G>A (p.Lys300=) c.798G>A (p.Lys266=) c.763-1G>A (n.763-1G>A) c.603G>A (p.Lys201=) | |
1 | g.173909887T>A | CA343774674 | SERPINC1 | c.818A>T (p.Lys273Met) n.469A>T c.559+1977A>T (n.559+1977A>T) c.674A>T (p.Lys225Met) c.941A>T (p.Lys314Met) c.899A>T (p.Lys300Met) c.797A>T (p.Lys266Met) c.763-2A>T (n.763-2A>T) c.602A>T (p.Lys201Met) | |
1 | g.173909887T>C | CA343774675 | SERPINC1 | c.818A>G (p.Lys273Arg) n.469A>G c.559+1977A>G (n.559+1977A>G) c.674A>G (p.Lys225Arg) c.941A>G (p.Lys314Arg) c.899A>G (p.Lys300Arg) c.797A>G (p.Lys266Arg) c.763-2A>G (n.763-2A>G) c.602A>G (p.Lys201Arg) | dbSNP |
1 | g.173909887T>G | CA343774677 | SERPINC1 | c.818A>C (p.Lys273Thr) n.469A>C c.559+1977A>C (n.559+1977A>C) c.674A>C (p.Lys225Thr) c.941A>C (p.Lys314Thr) c.899A>C (p.Lys300Thr) c.797A>C (p.Lys266Thr) c.763-2A>C (n.763-2A>C) c.602A>C (p.Lys201Thr) | dbSNP |
1 | g.173909887T= | CA1207937037 | SERPINC1 | c.818A= (p.Lys273=) n.469A= c.559+1977A= (n.559+1977A=) c.674A= (p.Lys225=) c.941A= (p.Lys314=) c.899A= (p.Lys300=) c.797A= (p.Lys266=) c.763-2A= (n.763-2A=) c.602A= (p.Lys201=) | |
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) |