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.173909777C>A | CA343774217 | SERPINC1 | c.928G>T (p.Asp310Tyr) n.579G>T c.559+2087G>T (n.559+2087G>T) c.784G>T (p.Asp262Tyr) c.1051G>T (p.Asp351Tyr) c.1009G>T (p.Asp337Tyr) c.907G>T (p.Asp303Tyr) c.871G>T (p.Asp291Tyr) c.712G>T (p.Asp238Tyr) | gnomAD v4 |
1 | g.173909777C>G | CA343774219 | SERPINC1 | c.928G>C (p.Asp310His) n.579G>C c.559+2087G>C (n.559+2087G>C) c.784G>C (p.Asp262His) c.1051G>C (p.Asp351His) c.1009G>C (p.Asp337His) c.907G>C (p.Asp303His) c.871G>C (p.Asp291His) c.712G>C (p.Asp238His) | |
1 | g.173909777C>T | CA343774220 | SERPINC1 | c.928G>A (p.Asp310Asn) n.579G>A c.559+2087G>A (n.559+2087G>A) c.784G>A (p.Asp262Asn) c.1051G>A (p.Asp351Asn) c.1009G>A (p.Asp337Asn) c.907G>A (p.Asp303Asn) c.871G>A (p.Asp291Asn) c.712G>A (p.Asp238Asn) | |
1 | g.173909778A= | CA1149156605 | SERPINC1 | c.927T= (p.Asp309=) n.578T= c.559+2086T= (n.559+2086T=) c.783T= (p.Asp261=) c.1050T= (p.Asp350=) c.1008T= (p.Asp336=) c.906T= (p.Asp302=) c.870T= (p.Asp290=) c.711T= (p.Asp237=) | |
1 | g.173909778A>C | CA343774222 | SERPINC1 | c.927T>G (p.Asp309Glu) n.578T>G c.559+2086T>G (n.559+2086T>G) c.783T>G (p.Asp261Glu) c.1050T>G (p.Asp350Glu) c.1008T>G (p.Asp336Glu) c.906T>G (p.Asp302Glu) c.870T>G (p.Asp290Glu) c.711T>G (p.Asp237Glu) | |
1 | g.173909778A>G | CA1251310 | SERPINC1 | c.927T>C (p.Asp309=) n.578T>C c.559+2086T>C (n.559+2086T>C) c.783T>C (p.Asp261=) c.1050T>C (p.Asp350=) c.1008T>C (p.Asp336=) c.906T>C (p.Asp302=) c.870T>C (p.Asp290=) c.711T>C (p.Asp237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909778A>T | CA343774223 | SERPINC1 | c.927T>A (p.Asp309Glu) n.578T>A c.559+2086T>A (n.559+2086T>A) c.783T>A (p.Asp261Glu) c.1050T>A (p.Asp350Glu) c.1008T>A (p.Asp336Glu) c.906T>A (p.Asp302Glu) c.870T>A (p.Asp290Glu) c.711T>A (p.Asp237Glu) | dbSNP |
1 | g.173909779T>A | CA343774226 | SERPINC1 | c.926A>T (p.Asp309Val) n.577A>T c.559+2085A>T (n.559+2085A>T) c.782A>T (p.Asp261Val) c.1049A>T (p.Asp350Val) c.1007A>T (p.Asp336Val) c.905A>T (p.Asp302Val) c.869A>T (p.Asp290Val) c.710A>T (p.Asp237Val) | |
1 | g.173909779T>C | CA343774228 | SERPINC1 | c.926A>G (p.Asp309Gly) n.577A>G c.559+2085A>G (n.559+2085A>G) c.782A>G (p.Asp261Gly) c.1049A>G (p.Asp350Gly) c.1007A>G (p.Asp336Gly) c.905A>G (p.Asp302Gly) c.869A>G (p.Asp290Gly) c.710A>G (p.Asp237Gly) | |
1 | g.173909779T>G | CA343774229 | SERPINC1 | c.926A>C (p.Asp309Ala) n.577A>C c.559+2085A>C (n.559+2085A>C) c.782A>C (p.Asp261Ala) c.1049A>C (p.Asp350Ala) c.1007A>C (p.Asp336Ala) c.905A>C (p.Asp302Ala) c.869A>C (p.Asp290Ala) c.710A>C (p.Asp237Ala) | |
1 | g.173909780C>A | CA343774231 | SERPINC1 | c.925G>T (p.Asp309Tyr) n.576G>T c.559+2084G>T (n.559+2084G>T) c.781G>T (p.Asp261Tyr) c.1048G>T (p.Asp350Tyr) c.1006G>T (p.Asp336Tyr) c.904G>T (p.Asp302Tyr) c.868G>T (p.Asp290Tyr) c.709G>T (p.Asp237Tyr) | |
1 | g.173909780C>G | CA343774233 | SERPINC1 | c.925G>C (p.Asp309His) n.576G>C c.559+2084G>C (n.559+2084G>C) c.781G>C (p.Asp261His) c.1048G>C (p.Asp350His) c.1006G>C (p.Asp336His) c.904G>C (p.Asp302His) c.868G>C (p.Asp290His) c.709G>C (p.Asp237His) | |
1 | g.173909780C>T | CA343774235 | SERPINC1 | c.925G>A (p.Asp309Asn) n.576G>A c.559+2084G>A (n.559+2084G>A) c.781G>A (p.Asp261Asn) c.1048G>A (p.Asp350Asn) c.1006G>A (p.Asp336Asn) c.904G>A (p.Asp302Asn) c.868G>A (p.Asp290Asn) c.709G>A (p.Asp237Asn) | ClinVar gnomAD v4 |
1 | g.173909781A= | CA1207936991 | SERPINC1 | c.924T= (p.Gly308=) n.575T= c.559+2083T= (n.559+2083T=) c.780T= (p.Gly260=) c.1047T= (p.Gly349=) c.1005T= (p.Gly335=) c.903T= (p.Gly301=) c.867T= (p.Gly289=) c.708T= (p.Gly236=) | |
1 | g.173909781A>C | CA421942712 | SERPINC1 | c.924T>G (p.Gly308=) n.575T>G c.559+2083T>G (n.559+2083T>G) c.780T>G (p.Gly260=) c.1047T>G (p.Gly349=) c.1005T>G (p.Gly335=) c.903T>G (p.Gly301=) c.867T>G (p.Gly289=) c.708T>G (p.Gly236=) | dbSNP |
1 | g.173909781A>G | CA421942713 | SERPINC1 | c.924T>C (p.Gly308=) n.575T>C c.559+2083T>C (n.559+2083T>C) c.780T>C (p.Gly260=) c.1047T>C (p.Gly349=) c.1005T>C (p.Gly335=) c.903T>C (p.Gly301=) c.867T>C (p.Gly289=) c.708T>C (p.Gly236=) | |
1 | g.173909781A>T | CA421942714 | SERPINC1 | c.924T>A (p.Gly308=) n.575T>A c.559+2083T>A (n.559+2083T>A) c.780T>A (p.Gly260=) c.1047T>A (p.Gly349=) c.1005T>A (p.Gly335=) c.903T>A (p.Gly301=) c.867T>A (p.Gly289=) c.708T>A (p.Gly236=) | |
1 | g.173909782C>A | CA343774241 | SERPINC1 | c.923G>T (p.Gly308Val) n.574G>T c.559+2082G>T (n.559+2082G>T) c.779G>T (p.Gly260Val) c.1046G>T (p.Gly349Val) c.1004G>T (p.Gly335Val) c.902G>T (p.Gly301Val) c.866G>T (p.Gly289Val) c.707G>T (p.Gly236Val) | |
1 | g.173909782C>G | CA343774237 | SERPINC1 | c.923G>C (p.Gly308Ala) n.574G>C c.559+2082G>C (n.559+2082G>C) c.779G>C (p.Gly260Ala) c.1046G>C (p.Gly349Ala) c.1004G>C (p.Gly335Ala) c.902G>C (p.Gly301Ala) c.866G>C (p.Gly289Ala) c.707G>C (p.Gly236Ala) | |
1 | g.173909782C>T | CA343774239 | SERPINC1 | c.923G>A (p.Gly308Asp) n.574G>A c.559+2082G>A (n.559+2082G>A) c.779G>A (p.Gly260Asp) c.1046G>A (p.Gly349Asp) c.1004G>A (p.Gly335Asp) c.902G>A (p.Gly301Asp) c.866G>A (p.Gly289Asp) c.707G>A (p.Gly236Asp) | |
1 | g.173909783C>A | CA343774243 | SERPINC1 | c.922G>T (p.Gly308Cys) n.573G>T c.559+2081G>T (n.559+2081G>T) c.778G>T (p.Gly260Cys) c.1045G>T (p.Gly349Cys) c.1003G>T (p.Gly335Cys) c.901G>T (p.Gly301Cys) c.865G>T (p.Gly289Cys) c.706G>T (p.Gly236Cys) | |
1 | g.173909783C= | CA1207936992 | SERPINC1 | c.922G= (p.Gly308=) n.573G= c.559+2081G= (n.559+2081G=) c.778G= (p.Gly260=) c.1045G= (p.Gly349=) c.1003G= (p.Gly335=) c.901G= (p.Gly301=) c.865G= (p.Gly289=) c.706G= (p.Gly236=) | |
1 | g.173909783C>G | CA343774244 | SERPINC1 | c.922G>C (p.Gly308Arg) n.573G>C c.559+2081G>C (n.559+2081G>C) c.778G>C (p.Gly260Arg) c.1045G>C (p.Gly349Arg) c.1003G>C (p.Gly335Arg) c.901G>C (p.Gly301Arg) c.865G>C (p.Gly289Arg) c.706G>C (p.Gly236Arg) | |
1 | g.173909783C>T | CA343774246 | SERPINC1 | c.922G>A (p.Gly308Ser) n.573G>A c.559+2081G>A (n.559+2081G>A) c.778G>A (p.Gly260Ser) c.1045G>A (p.Gly349Ser) c.1003G>A (p.Gly335Ser) c.901G>A (p.Gly301Ser) c.865G>A (p.Gly289Ser) c.706G>A (p.Gly236Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909784T>A | CA343774248 | SERPINC1 | c.921A>T (p.Lys307Asn) n.572A>T c.559+2080A>T (n.559+2080A>T) c.777A>T (p.Lys259Asn) c.1044A>T (p.Lys348Asn) c.1002A>T (p.Lys334Asn) c.900A>T (p.Lys300Asn) c.864A>T (p.Lys288Asn) c.705A>T (p.Lys235Asn) | |
1 | g.173909784T>C | CA421942715 | SERPINC1 | c.921A>G (p.Lys307=) n.572A>G c.559+2080A>G (n.559+2080A>G) c.777A>G (p.Lys259=) c.1044A>G (p.Lys348=) c.1002A>G (p.Lys334=) c.900A>G (p.Lys300=) c.864A>G (p.Lys288=) c.705A>G (p.Lys235=) | dbSNP gnomAD v4 |
1 | g.173909784T>G | CA343774249 | SERPINC1 | c.921A>C (p.Lys307Asn) n.572A>C c.559+2080A>C (n.559+2080A>C) c.777A>C (p.Lys259Asn) c.1044A>C (p.Lys348Asn) c.1002A>C (p.Lys334Asn) c.900A>C (p.Lys300Asn) c.864A>C (p.Lys288Asn) c.705A>C (p.Lys235Asn) | |
1 | g.173909784T= | CA1207936993 | SERPINC1 | c.921A= (p.Lys307=) n.572A= c.559+2080A= (n.559+2080A=) c.777A= (p.Lys259=) c.1044A= (p.Lys348=) c.1002A= (p.Lys334=) c.900A= (p.Lys300=) c.864A= (p.Lys288=) c.705A= (p.Lys235=) | |
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.173909785T>A | CA343774251 | SERPINC1 | c.920A>T (p.Lys307Ile) n.571A>T c.559+2079A>T (n.559+2079A>T) c.776A>T (p.Lys259Ile) c.1043A>T (p.Lys348Ile) c.1001A>T (p.Lys334Ile) c.899A>T (p.Lys300Ile) c.863A>T (p.Lys288Ile) c.704A>T (p.Lys235Ile) | |
1 | g.173909785T>C | CA343774254 | SERPINC1 | c.920A>G (p.Lys307Arg) n.571A>G c.559+2079A>G (n.559+2079A>G) c.776A>G (p.Lys259Arg) c.1043A>G (p.Lys348Arg) c.1001A>G (p.Lys334Arg) c.899A>G (p.Lys300Arg) c.863A>G (p.Lys288Arg) c.704A>G (p.Lys235Arg) | gnomAD v4 |
1 | g.173909785T>G | CA343774253 | SERPINC1 | c.920A>C (p.Lys307Thr) n.571A>C c.559+2079A>C (n.559+2079A>C) c.776A>C (p.Lys259Thr) c.1043A>C (p.Lys348Thr) c.1001A>C (p.Lys334Thr) c.899A>C (p.Lys300Thr) c.863A>C (p.Lys288Thr) c.704A>C (p.Lys235Thr) | |
1 | g.173909786T>A | CA343774256 | SERPINC1 | c.919A>T (p.Lys307Ter) n.570A>T c.559+2078A>T (n.559+2078A>T) c.775A>T (p.Lys259Ter) c.1042A>T (p.Lys348Ter) c.1000A>T (p.Lys334Ter) c.898A>T (p.Lys300Ter) c.862A>T (p.Lys288Ter) c.703A>T (p.Lys235Ter) | |
1 | g.173909786T>C | CA343774257 | SERPINC1 | c.919A>G (p.Lys307Glu) n.570A>G c.559+2078A>G (n.559+2078A>G) c.775A>G (p.Lys259Glu) c.1042A>G (p.Lys348Glu) c.1000A>G (p.Lys334Glu) c.898A>G (p.Lys300Glu) c.862A>G (p.Lys288Glu) c.703A>G (p.Lys235Glu) | |
1 | g.173909786T>G | CA343774258 | SERPINC1 | c.919A>C (p.Lys307Gln) n.570A>C c.559+2078A>C (n.559+2078A>C) c.775A>C (p.Lys259Gln) c.1042A>C (p.Lys348Gln) c.1000A>C (p.Lys334Gln) c.898A>C (p.Lys300Gln) c.862A>C (p.Lys288Gln) c.703A>C (p.Lys235Gln) | |
1 | g.173909787G>A | CA421942716 | SERPINC1 | c.918C>T (p.Phe306=) n.569C>T c.559+2077C>T (n.559+2077C>T) c.774C>T (p.Phe258=) c.1041C>T (p.Phe347=) c.999C>T (p.Phe333=) c.897C>T (p.Phe299=) c.861C>T (p.Phe287=) c.702C>T (p.Phe234=) | |
1 | g.173909787G>C | CA343774260 | SERPINC1 | c.918C>G (p.Phe306Leu) n.569C>G c.559+2077C>G (n.559+2077C>G) c.774C>G (p.Phe258Leu) c.1041C>G (p.Phe347Leu) c.999C>G (p.Phe333Leu) c.897C>G (p.Phe299Leu) c.861C>G (p.Phe287Leu) c.702C>G (p.Phe234Leu) | |
1 | g.173909787G>T | CA343774262 | SERPINC1 | c.918C>A (p.Phe306Leu) n.569C>A c.559+2077C>A (n.559+2077C>A) c.774C>A (p.Phe258Leu) c.1041C>A (p.Phe347Leu) c.999C>A (p.Phe333Leu) c.897C>A (p.Phe299Leu) c.861C>A (p.Phe287Leu) c.702C>A (p.Phe234Leu) | |
1 | g.173909788A>C | CA343774264 | SERPINC1 | c.917T>G (p.Phe306Cys) n.568T>G c.559+2076T>G (n.559+2076T>G) c.773T>G (p.Phe258Cys) c.1040T>G (p.Phe347Cys) c.998T>G (p.Phe333Cys) c.896T>G (p.Phe299Cys) c.860T>G (p.Phe287Cys) c.701T>G (p.Phe234Cys) | |
1 | g.173909788A>G | CA343774266 | SERPINC1 | c.917T>C (p.Phe306Ser) n.568T>C c.559+2076T>C (n.559+2076T>C) c.773T>C (p.Phe258Ser) c.1040T>C (p.Phe347Ser) c.998T>C (p.Phe333Ser) c.896T>C (p.Phe299Ser) c.860T>C (p.Phe287Ser) c.701T>C (p.Phe234Ser) | |
1 | g.173909788A>T | CA343774268 | SERPINC1 | c.917T>A (p.Phe306Tyr) n.568T>A c.559+2076T>A (n.559+2076T>A) c.773T>A (p.Phe258Tyr) c.1040T>A (p.Phe347Tyr) c.998T>A (p.Phe333Tyr) c.896T>A (p.Phe299Tyr) c.860T>A (p.Phe287Tyr) c.701T>A (p.Phe234Tyr) | |
1 | g.173909789A= | CA1207936994 | SERPINC1 | c.916T= (p.Phe306=) n.567T= c.559+2075T= (n.559+2075T=) c.772T= (p.Phe258=) c.1039T= (p.Phe347=) c.997T= (p.Phe333=) c.895T= (p.Phe299=) c.859T= (p.Phe287=) c.700T= (p.Phe234=) | |
1 | g.173909789A>C | CA343774270 | SERPINC1 | c.916T>G (p.Phe306Val) n.567T>G c.559+2075T>G (n.559+2075T>G) c.772T>G (p.Phe258Val) c.1039T>G (p.Phe347Val) c.997T>G (p.Phe333Val) c.895T>G (p.Phe299Val) c.859T>G (p.Phe287Val) c.700T>G (p.Phe234Val) | |
1 | g.173909789A>G | CA343774272 | SERPINC1 | c.916T>C (p.Phe306Leu) n.567T>C c.559+2075T>C (n.559+2075T>C) c.772T>C (p.Phe258Leu) c.1039T>C (p.Phe347Leu) c.997T>C (p.Phe333Leu) c.895T>C (p.Phe299Leu) c.859T>C (p.Phe287Leu) c.700T>C (p.Phe234Leu) | |
1 | g.173909789A>T | CA343774274 | SERPINC1 | c.916T>A (p.Phe306Ile) n.567T>A c.559+2075T>A (n.559+2075T>A) c.772T>A (p.Phe258Ile) c.1039T>A (p.Phe347Ile) c.997T>A (p.Phe333Ile) c.895T>A (p.Phe299Ile) c.859T>A (p.Phe287Ile) c.700T>A (p.Phe234Ile) | |
1 | g.173909790G>A | CA421942719 | SERPINC1 | c.915C>T (p.Pro305=) n.566C>T c.559+2074C>T (n.559+2074C>T) c.771C>T (p.Pro257=) c.1038C>T (p.Pro346=) c.996C>T (p.Pro332=) c.894C>T (p.Pro298=) c.858C>T (p.Pro286=) c.699C>T (p.Pro233=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909790G>C | CA421942718 | SERPINC1 | c.915C>G (p.Pro305=) n.566C>G c.559+2074C>G (n.559+2074C>G) c.771C>G (p.Pro257=) c.1038C>G (p.Pro346=) c.996C>G (p.Pro332=) c.894C>G (p.Pro298=) c.858C>G (p.Pro286=) c.699C>G (p.Pro233=) | |
1 | g.173909790G= | CA1207936995 | SERPINC1 | c.915C= (p.Pro305=) n.566C= c.559+2074C= (n.559+2074C=) c.771C= (p.Pro257=) c.1038C= (p.Pro346=) c.996C= (p.Pro332=) c.894C= (p.Pro298=) c.858C= (p.Pro286=) c.699C= (p.Pro233=) | |
1 | g.173909790G>T | CA421942717 | SERPINC1 | c.915C>A (p.Pro305=) n.566C>A c.559+2074C>A (n.559+2074C>A) c.771C>A (p.Pro257=) c.1038C>A (p.Pro346=) c.996C>A (p.Pro332=) c.894C>A (p.Pro298=) c.858C>A (p.Pro286=) c.699C>A (p.Pro233=) | |
1 | g.173909792dup | CA891313347 | SERPINC1 | c.915dup (p.Phe306LeufsTer4) n.566dup c.559+2074dup (n.559+2074dup) c.771dup (p.Phe258LeufsTer4) c.1038dup (p.Phe347LeufsTer4) c.996dup (p.Phe333LeufsTer4) c.894dup (p.Phe299LeufsTer4) c.858dup (p.Phe287LeufsTer4) c.699dup (p.Phe234LeufsTer4) | dbSNP |
1 | g.173909791G>A | CA1251312 | SERPINC1 | c.914C>T (p.Pro305Leu) n.565C>T c.559+2073C>T (n.559+2073C>T) c.770C>T (p.Pro257Leu) c.1037C>T (p.Pro346Leu) c.995C>T (p.Pro332Leu) c.893C>T (p.Pro298Leu) c.857C>T (p.Pro286Leu) c.698C>T (p.Pro233Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909791G>C | CA343774277 | SERPINC1 | c.914C>G (p.Pro305Arg) n.565C>G c.559+2073C>G (n.559+2073C>G) c.770C>G (p.Pro257Arg) c.1037C>G (p.Pro346Arg) c.995C>G (p.Pro332Arg) c.893C>G (p.Pro298Arg) c.857C>G (p.Pro286Arg) c.698C>G (p.Pro233Arg) | |
1 | g.173909791G= | CA1145968789 | SERPINC1 | c.914C= (p.Pro305=) n.565C= c.559+2073C= (n.559+2073C=) c.770C= (p.Pro257=) c.1037C= (p.Pro346=) c.995C= (p.Pro332=) c.893C= (p.Pro298=) c.857C= (p.Pro286=) c.698C= (p.Pro233=) | |
1 | g.173909791G>T | CA1251311 | SERPINC1 | c.914C>A (p.Pro305His) n.565C>A c.559+2073C>A (n.559+2073C>A) c.770C>A (p.Pro257His) c.1037C>A (p.Pro346His) c.995C>A (p.Pro332His) c.893C>A (p.Pro298His) c.857C>A (p.Pro286His) c.698C>A (p.Pro233His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909792G>A | CA343774279 | SERPINC1 | c.913C>T (p.Pro305Ser) n.564C>T c.559+2072C>T (n.559+2072C>T) c.769C>T (p.Pro257Ser) c.1036C>T (p.Pro346Ser) c.994C>T (p.Pro332Ser) c.892C>T (p.Pro298Ser) c.856C>T (p.Pro286Ser) c.697C>T (p.Pro233Ser) | gnomAD v4 |
1 | g.173909792G>C | CA343774282 | SERPINC1 | c.913C>G (p.Pro305Ala) n.564C>G c.559+2072C>G (n.559+2072C>G) c.769C>G (p.Pro257Ala) c.1036C>G (p.Pro346Ala) c.994C>G (p.Pro332Ala) c.892C>G (p.Pro298Ala) c.856C>G (p.Pro286Ala) c.697C>G (p.Pro233Ala) | |
1 | g.173909792G= | CA1207936996 | SERPINC1 | c.913C= (p.Pro305=) n.564C= c.559+2072C= (n.559+2072C=) c.769C= (p.Pro257=) c.1036C= (p.Pro346=) c.994C= (p.Pro332=) c.892C= (p.Pro298=) c.856C= (p.Pro286=) c.697C= (p.Pro233=) | |
1 | g.173909792G>T | CA343774281 | SERPINC1 | c.913C>A (p.Pro305Thr) n.564C>A c.559+2072C>A (n.559+2072C>A) c.769C>A (p.Pro257Thr) c.1036C>A (p.Pro346Thr) c.994C>A (p.Pro332Thr) c.892C>A (p.Pro298Thr) c.856C>A (p.Pro286Thr) c.697C>A (p.Pro233Thr) | dbSNP |
1 | g.173909793C>A | CA343774284 | SERPINC1 | c.912G>T (p.Leu304Phe) n.563G>T c.559+2071G>T (n.559+2071G>T) c.768G>T (p.Leu256Phe) c.1035G>T (p.Leu345Phe) c.993G>T (p.Leu331Phe) c.891G>T (p.Leu297Phe) c.855G>T (p.Leu285Phe) c.696G>T (p.Leu232Phe) | COSMIC |
1 | g.173909793C>G | CA343774285 | SERPINC1 | c.912G>C (p.Leu304Phe) n.563G>C c.559+2071G>C (n.559+2071G>C) c.768G>C (p.Leu256Phe) c.1035G>C (p.Leu345Phe) c.993G>C (p.Leu331Phe) c.891G>C (p.Leu297Phe) c.855G>C (p.Leu285Phe) c.696G>C (p.Leu232Phe) | |
1 | g.173909793C>T | CA421942720 | SERPINC1 | c.912G>A (p.Leu304=) n.563G>A c.559+2071G>A (n.559+2071G>A) c.768G>A (p.Leu256=) c.1035G>A (p.Leu345=) c.993G>A (p.Leu331=) c.891G>A (p.Leu297=) c.855G>A (p.Leu285=) c.696G>A (p.Leu232=) | |
1 | g.173909794A>C | CA343774288 | SERPINC1 | c.911T>G (p.Leu304Trp) n.562T>G c.559+2070T>G (n.559+2070T>G) c.767T>G (p.Leu256Trp) c.1034T>G (p.Leu345Trp) c.992T>G (p.Leu331Trp) c.890T>G (p.Leu297Trp) c.854T>G (p.Leu285Trp) c.695T>G (p.Leu232Trp) | |
1 | g.173909794A>G | CA343774289 | SERPINC1 | c.911T>C (p.Leu304Ser) n.562T>C c.559+2070T>C (n.559+2070T>C) c.767T>C (p.Leu256Ser) c.1034T>C (p.Leu345Ser) c.992T>C (p.Leu331Ser) c.890T>C (p.Leu297Ser) c.854T>C (p.Leu285Ser) c.695T>C (p.Leu232Ser) | |
1 | g.173909794A>T | CA343774291 | SERPINC1 | c.911T>A (p.Leu304Ter) n.562T>A c.559+2070T>A (n.559+2070T>A) c.767T>A (p.Leu256Ter) c.1034T>A (p.Leu345Ter) c.992T>A (p.Leu331Ter) c.890T>A (p.Leu297Ter) c.854T>A (p.Leu285Ter) c.695T>A (p.Leu232Ter) | |
1 | g.173909795A= | CA1142368681 | SERPINC1 | c.910T= (p.Leu304=) n.561T= c.559+2069T= (n.559+2069T=) c.766T= (p.Leu256=) c.1033T= (p.Leu345=) c.991T= (p.Leu331=) c.889T= (p.Leu297=) c.853T= (p.Leu285=) c.694T= (p.Leu232=) | |
1 | g.173909795A>C | CA343774293 | SERPINC1 | c.910T>G (p.Leu304Val) n.561T>G c.559+2069T>G (n.559+2069T>G) c.766T>G (p.Leu256Val) c.1033T>G (p.Leu345Val) c.991T>G (p.Leu331Val) c.889T>G (p.Leu297Val) c.853T>G (p.Leu285Val) c.694T>G (p.Leu232Val) | |
1 | g.173909795A>G | CA1251313 | SERPINC1 | c.910T>C (p.Leu304=) n.561T>C c.559+2069T>C (n.559+2069T>C) c.766T>C (p.Leu256=) c.1033T>C (p.Leu345=) c.991T>C (p.Leu331=) c.889T>C (p.Leu297=) c.853T>C (p.Leu285=) c.694T>C (p.Leu232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909795A>T | CA343774295 | SERPINC1 | c.910T>A (p.Leu304Met) n.561T>A c.559+2069T>A (n.559+2069T>A) c.766T>A (p.Leu256Met) c.1033T>A (p.Leu345Met) c.991T>A (p.Leu331Met) c.889T>A (p.Leu297Met) c.853T>A (p.Leu285Met) c.694T>A (p.Leu232Met) | |
1 | g.173909796C>A | CA343774297 | SERPINC1 | c.909G>T (p.Glu303Asp) n.560G>T c.559+2068G>T (n.559+2068G>T) c.765G>T (p.Glu255Asp) c.1032G>T (p.Glu344Asp) c.990G>T (p.Glu330Asp) c.888G>T (p.Glu296Asp) c.852G>T (p.Glu284Asp) c.693G>T (p.Glu231Asp) | |
1 | g.173909796C>G | CA343774298 | SERPINC1 | c.909G>C (p.Glu303Asp) n.560G>C c.559+2068G>C (n.559+2068G>C) c.765G>C (p.Glu255Asp) c.1032G>C (p.Glu344Asp) c.990G>C (p.Glu330Asp) c.888G>C (p.Glu296Asp) c.852G>C (p.Glu284Asp) c.693G>C (p.Glu231Asp) | |
1 | g.173909796C>T | CA421942721 | SERPINC1 | c.909G>A (p.Glu303=) n.560G>A c.559+2068G>A (n.559+2068G>A) c.765G>A (p.Glu255=) c.1032G>A (p.Glu344=) c.990G>A (p.Glu330=) c.888G>A (p.Glu296=) c.852G>A (p.Glu284=) c.693G>A (p.Glu231=) | gnomAD v4 |
1 | g.173909797T>A | CA343774300 | SERPINC1 | c.908A>T (p.Glu303Val) n.559A>T c.559+2067A>T (n.559+2067A>T) c.764A>T (p.Glu255Val) c.1031A>T (p.Glu344Val) c.989A>T (p.Glu330Val) c.887A>T (p.Glu296Val) c.851A>T (p.Glu284Val) c.692A>T (p.Glu231Val) | |
1 | g.173909797T>C | CA343774301 | SERPINC1 | c.908A>G (p.Glu303Gly) n.559A>G c.559+2067A>G (n.559+2067A>G) c.764A>G (p.Glu255Gly) c.1031A>G (p.Glu344Gly) c.989A>G (p.Glu330Gly) c.887A>G (p.Glu296Gly) c.851A>G (p.Glu284Gly) c.692A>G (p.Glu231Gly) | |
1 | g.173909797T>G | CA343774303 | SERPINC1 | c.908A>C (p.Glu303Ala) n.559A>C c.559+2067A>C (n.559+2067A>C) c.764A>C (p.Glu255Ala) c.1031A>C (p.Glu344Ala) c.989A>C (p.Glu330Ala) c.887A>C (p.Glu296Ala) c.851A>C (p.Glu284Ala) c.692A>C (p.Glu231Ala) | |
1 | g.173909798C>A | CA343774309 | SERPINC1 | c.907G>T (p.Glu303Ter) n.558G>T c.559+2066G>T (n.559+2066G>T) c.763G>T (p.Glu255Ter) c.1030G>T (p.Glu344Ter) c.988G>T (p.Glu330Ter) c.886G>T (p.Glu296Ter) c.850G>T (p.Glu284Ter) c.691G>T (p.Glu231Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909798C= | CA1207936997 | SERPINC1 | c.907G= (p.Glu303=) n.558G= c.559+2066G= (n.559+2066G=) c.763G= (p.Glu255=) c.1030G= (p.Glu344=) c.988G= (p.Glu330=) c.886G= (p.Glu296=) c.850G= (p.Glu284=) c.691G= (p.Glu231=) | |
1 | g.173909798C>G | CA343774307 | SERPINC1 | c.907G>C (p.Glu303Gln) n.558G>C c.559+2066G>C (n.559+2066G>C) c.763G>C (p.Glu255Gln) c.1030G>C (p.Glu344Gln) c.988G>C (p.Glu330Gln) c.886G>C (p.Glu296Gln) c.850G>C (p.Glu284Gln) c.691G>C (p.Glu231Gln) | |
1 | g.173909798C>T | CA343774305 | SERPINC1 | c.907G>A (p.Glu303Lys) n.558G>A c.559+2066G>A (n.559+2066G>A) c.763G>A (p.Glu255Lys) c.1030G>A (p.Glu344Lys) c.988G>A (p.Glu330Lys) c.886G>A (p.Glu296Lys) c.850G>A (p.Glu284Lys) c.691G>A (p.Glu231Lys) | gnomAD v4 |
1 | g.173909798dup | CA2579753966 | SERPINC1 | c.907dup (p.Glu303GlyfsTer7) n.558dup c.559+2066dup (n.559+2066dup) c.763dup (p.Glu255GlyfsTer7) c.1030dup (p.Glu344GlyfsTer7) c.988dup (p.Glu330GlyfsTer7) c.886dup (p.Glu296GlyfsTer7) c.850dup (p.Glu284GlyfsTer7) c.691dup (p.Glu231GlyfsTer7) | |
1 | g.173909799A= | CA1207936998 | SERPINC1 | c.906T= (p.Leu302=) n.557T= c.559+2065T= (n.559+2065T=) c.762T= (p.Leu254=) c.1029T= (p.Leu343=) c.987T= (p.Leu329=) c.885T= (p.Leu295=) c.849T= (p.Leu283=) c.690T= (p.Leu230=) | |
1 | g.173909799A>C | CA421942722 | SERPINC1 | c.906T>G (p.Leu302=) n.557T>G c.559+2065T>G (n.559+2065T>G) c.762T>G (p.Leu254=) c.1029T>G (p.Leu343=) c.987T>G (p.Leu329=) c.885T>G (p.Leu295=) c.849T>G (p.Leu283=) c.690T>G (p.Leu230=) | |
1 | g.173909799A>G | CA421942723 | SERPINC1 | c.906T>C (p.Leu302=) n.557T>C c.559+2065T>C (n.559+2065T>C) c.762T>C (p.Leu254=) c.1029T>C (p.Leu343=) c.987T>C (p.Leu329=) c.885T>C (p.Leu295=) c.849T>C (p.Leu283=) c.690T>C (p.Leu230=) | |
1 | g.173909799A>T | CA421942724 | SERPINC1 | c.906T>A (p.Leu302=) n.557T>A c.559+2065T>A (n.559+2065T>A) c.762T>A (p.Leu254=) c.1029T>A (p.Leu343=) c.987T>A (p.Leu329=) c.885T>A (p.Leu295=) c.849T>A (p.Leu283=) c.690T>A (p.Leu230=) | dbSNP |
1 | g.173909800A>C | CA343774311 | SERPINC1 | c.905T>G (p.Leu302Arg) n.556T>G c.559+2064T>G (n.559+2064T>G) c.761T>G (p.Leu254Arg) c.1028T>G (p.Leu343Arg) c.986T>G (p.Leu329Arg) c.884T>G (p.Leu295Arg) c.848T>G (p.Leu283Arg) c.689T>G (p.Leu230Arg) | |
1 | g.173909800A>G | CA343774312 | SERPINC1 | c.905T>C (p.Leu302Pro) n.556T>C c.559+2064T>C (n.559+2064T>C) c.761T>C (p.Leu254Pro) c.1028T>C (p.Leu343Pro) c.986T>C (p.Leu329Pro) c.884T>C (p.Leu295Pro) c.848T>C (p.Leu283Pro) c.689T>C (p.Leu230Pro) | |
1 | g.173909800A>T | CA343774313 | SERPINC1 | c.905T>A (p.Leu302His) n.556T>A c.559+2064T>A (n.559+2064T>A) c.761T>A (p.Leu254His) c.1028T>A (p.Leu343His) c.986T>A (p.Leu329His) c.884T>A (p.Leu295His) c.848T>A (p.Leu283His) c.689T>A (p.Leu230His) | |
1 | g.173909801G>A | CA343774316 | SERPINC1 | c.904C>T (p.Leu302Phe) n.555C>T c.559+2063C>T (n.559+2063C>T) c.760C>T (p.Leu254Phe) c.1027C>T (p.Leu343Phe) c.985C>T (p.Leu329Phe) c.883C>T (p.Leu295Phe) c.847C>T (p.Leu283Phe) c.688C>T (p.Leu230Phe) | |
1 | g.173909801G>C | CA343774317 | SERPINC1 | c.904C>G (p.Leu302Val) n.555C>G c.559+2063C>G (n.559+2063C>G) c.760C>G (p.Leu254Val) c.1027C>G (p.Leu343Val) c.985C>G (p.Leu329Val) c.883C>G (p.Leu295Val) c.847C>G (p.Leu283Val) c.688C>G (p.Leu230Val) | |
1 | g.173909801G>T | CA343774319 | SERPINC1 | c.904C>A (p.Leu302Ile) n.555C>A c.559+2063C>A (n.559+2063C>A) c.760C>A (p.Leu254Ile) c.1027C>A (p.Leu343Ile) c.985C>A (p.Leu329Ile) c.883C>A (p.Leu295Ile) c.847C>A (p.Leu283Ile) c.688C>A (p.Leu230Ile) | |
1 | g.173909802C>A | CA421942725 | SERPINC1 | c.903G>T (p.Val301=) n.554G>T c.559+2062G>T (n.559+2062G>T) c.759G>T (p.Val253=) c.1026G>T (p.Val342=) c.984G>T (p.Val328=) c.882G>T (p.Val294=) c.846G>T (p.Val282=) c.687G>T (p.Val229=) | |
1 | g.173909802C>G | CA421942726 | SERPINC1 | c.903G>C (p.Val301=) n.554G>C c.559+2062G>C (n.559+2062G>C) c.759G>C (p.Val253=) c.1026G>C (p.Val342=) c.984G>C (p.Val328=) c.882G>C (p.Val294=) c.846G>C (p.Val282=) c.687G>C (p.Val229=) | |
1 | g.173909802C>T | CA421942727 | SERPINC1 | c.903G>A (p.Val301=) n.554G>A c.559+2062G>A (n.559+2062G>A) c.759G>A (p.Val253=) c.1026G>A (p.Val342=) c.984G>A (p.Val328=) c.882G>A (p.Val294=) c.846G>A (p.Val282=) c.687G>A (p.Val229=) | |
1 | g.173909803A>C | CA343774321 | SERPINC1 | c.902T>G (p.Val301Gly) n.553T>G c.559+2061T>G (n.559+2061T>G) c.758T>G (p.Val253Gly) c.1025T>G (p.Val342Gly) c.983T>G (p.Val328Gly) c.881T>G (p.Val294Gly) c.845T>G (p.Val282Gly) c.686T>G (p.Val229Gly) | |
1 | g.173909803A>G | CA343774323 | SERPINC1 | c.902T>C (p.Val301Ala) n.553T>C c.559+2061T>C (n.559+2061T>C) c.758T>C (p.Val253Ala) c.1025T>C (p.Val342Ala) c.983T>C (p.Val328Ala) c.881T>C (p.Val294Ala) c.845T>C (p.Val282Ala) c.686T>C (p.Val229Ala) | |
1 | g.173909803A>T | CA343774325 | SERPINC1 | c.902T>A (p.Val301Glu) n.553T>A c.559+2061T>A (n.559+2061T>A) c.758T>A (p.Val253Glu) c.1025T>A (p.Val342Glu) c.983T>A (p.Val328Glu) c.881T>A (p.Val294Glu) c.845T>A (p.Val282Glu) c.686T>A (p.Val229Glu) | |
1 | g.173909804C>A | CA343774327 | SERPINC1 | c.901G>T (p.Val301Leu) n.552G>T c.559+2060G>T (n.559+2060G>T) c.757G>T (p.Val253Leu) c.1024G>T (p.Val342Leu) c.982G>T (p.Val328Leu) c.880G>T (p.Val294Leu) c.844G>T (p.Val282Leu) c.685G>T (p.Val229Leu) | |
1 | g.173909804C>G | CA343774328 | SERPINC1 | c.901G>C (p.Val301Leu) n.552G>C c.559+2060G>C (n.559+2060G>C) c.757G>C (p.Val253Leu) c.1024G>C (p.Val342Leu) c.982G>C (p.Val328Leu) c.880G>C (p.Val294Leu) c.844G>C (p.Val282Leu) c.685G>C (p.Val229Leu) | |
1 | g.173909804C>T | CA343774330 | SERPINC1 | c.901G>A (p.Val301Met) n.552G>A c.559+2060G>A (n.559+2060G>A) c.757G>A (p.Val253Met) c.1024G>A (p.Val342Met) c.982G>A (p.Val328Met) c.880G>A (p.Val294Met) c.844G>A (p.Val282Met) c.685G>A (p.Val229Met) | |
1 | g.173909805C>A | CA343774332 | SERPINC1 | c.900G>T (p.Gln300His) n.551G>T c.559+2059G>T (n.559+2059G>T) c.756G>T (p.Gln252His) c.1023G>T (p.Gln341His) c.981G>T (p.Gln327His) c.879G>T (p.Gln293His) c.843G>T (p.Gln281His) c.684G>T (p.Gln228His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909805C= | CA1207936999 | SERPINC1 | c.900G= (p.Gln300=) n.551G= c.559+2059G= (n.559+2059G=) c.756G= (p.Gln252=) c.1023G= (p.Gln341=) c.981G= (p.Gln327=) c.879G= (p.Gln293=) c.843G= (p.Gln281=) c.684G= (p.Gln228=) | |
1 | g.173909805C>G | CA343774334 | SERPINC1 | c.900G>C (p.Gln300His) n.551G>C c.559+2059G>C (n.559+2059G>C) c.756G>C (p.Gln252His) c.1023G>C (p.Gln341His) c.981G>C (p.Gln327His) c.879G>C (p.Gln293His) c.843G>C (p.Gln281His) c.684G>C (p.Gln228His) | |
1 | g.173909805C>T | CA421942728 | SERPINC1 | c.900G>A (p.Gln300=) n.551G>A c.559+2059G>A (n.559+2059G>A) c.756G>A (p.Gln252=) c.1023G>A (p.Gln341=) c.981G>A (p.Gln327=) c.879G>A (p.Gln293=) c.843G>A (p.Gln281=) c.684G>A (p.Gln228=) | |
1 | g.173909806T>A | CA343774336 | SERPINC1 | c.899A>T (p.Gln300Leu) n.550A>T c.559+2058A>T (n.559+2058A>T) c.755A>T (p.Gln252Leu) c.1022A>T (p.Gln341Leu) c.980A>T (p.Gln327Leu) c.878A>T (p.Gln293Leu) c.842A>T (p.Gln281Leu) c.683A>T (p.Gln228Leu) | |
1 | g.173909806T>C | CA343774338 | SERPINC1 | c.899A>G (p.Gln300Arg) n.550A>G c.559+2058A>G (n.559+2058A>G) c.755A>G (p.Gln252Arg) c.1022A>G (p.Gln341Arg) c.980A>G (p.Gln327Arg) c.878A>G (p.Gln293Arg) c.842A>G (p.Gln281Arg) c.683A>G (p.Gln228Arg) | |
1 | g.173909806T>G | CA343774339 | SERPINC1 | c.899A>C (p.Gln300Pro) n.550A>C c.559+2058A>C (n.559+2058A>C) c.755A>C (p.Gln252Pro) c.1022A>C (p.Gln341Pro) c.980A>C (p.Gln327Pro) c.878A>C (p.Gln293Pro) c.842A>C (p.Gln281Pro) c.683A>C (p.Gln228Pro) | |
1 | g.173909807G>A | CA343774342 | SERPINC1 | c.898C>T (p.Gln300Ter) n.549C>T c.559+2057C>T (n.559+2057C>T) c.754C>T (p.Gln252Ter) c.1021C>T (p.Gln341Ter) c.979C>T (p.Gln327Ter) c.877C>T (p.Gln293Ter) c.841C>T (p.Gln281Ter) c.682C>T (p.Gln228Ter) | |
1 | g.173909807G>C | CA343774344 | SERPINC1 | c.898C>G (p.Gln300Glu) n.549C>G c.559+2057C>G (n.559+2057C>G) c.754C>G (p.Gln252Glu) c.1021C>G (p.Gln341Glu) c.979C>G (p.Gln327Glu) c.877C>G (p.Gln293Glu) c.841C>G (p.Gln281Glu) c.682C>G (p.Gln228Glu) | |
1 | g.173909807G>T | CA343774346 | SERPINC1 | c.898C>A (p.Gln300Lys) n.549C>A c.559+2057C>A (n.559+2057C>A) c.754C>A (p.Gln252Lys) c.1021C>A (p.Gln341Lys) c.979C>A (p.Gln327Lys) c.877C>A (p.Gln293Lys) c.841C>A (p.Gln281Lys) c.682C>A (p.Gln228Lys) | |
1 | g.173909809del | CA2579753961 | SERPINC1 | c.898del (p.Gln300ArgfsTer28) n.549del c.559+2057del (n.559+2057del) c.754del (p.Gln252ArgfsTer28) c.1021del (p.Gln341ArgfsTer28) c.979del (p.Gln327ArgfsTer28) c.877del (p.Gln293ArgfsTer28) c.841del (p.Gln281ArgfsTer28) c.682del (p.Gln228ArgfsTer28) | |
1 | g.173909808G>A | CA421942731 | SERPINC1 | c.897C>T (p.Thr299=) n.548C>T c.559+2056C>T (n.559+2056C>T) c.753C>T (p.Thr251=) c.1020C>T (p.Thr340=) c.978C>T (p.Thr326=) c.876C>T (p.Thr292=) c.840C>T (p.Thr280=) c.681C>T (p.Thr227=) | |
1 | g.173909808G>C | CA421942730 | SERPINC1 | c.897C>G (p.Thr299=) n.548C>G c.559+2056C>G (n.559+2056C>G) c.753C>G (p.Thr251=) c.1020C>G (p.Thr340=) c.978C>G (p.Thr326=) c.876C>G (p.Thr292=) c.840C>G (p.Thr280=) c.681C>G (p.Thr227=) | |
1 | g.173909808G>T | CA421942729 | SERPINC1 | c.897C>A (p.Thr299=) n.548C>A c.559+2056C>A (n.559+2056C>A) c.753C>A (p.Thr251=) c.1020C>A (p.Thr340=) c.978C>A (p.Thr326=) c.876C>A (p.Thr292=) c.840C>A (p.Thr280=) c.681C>A (p.Thr227=) | |
1 | g.173909809G>A | CA343774348 | SERPINC1 | c.896C>T (p.Thr299Ile) n.547C>T c.559+2055C>T (n.559+2055C>T) c.752C>T (p.Thr251Ile) c.1019C>T (p.Thr340Ile) c.977C>T (p.Thr326Ile) c.875C>T (p.Thr292Ile) c.839C>T (p.Thr280Ile) c.680C>T (p.Thr227Ile) | |
1 | g.173909809G>C | CA343774350 | SERPINC1 | c.896C>G (p.Thr299Ser) n.547C>G c.559+2055C>G (n.559+2055C>G) c.752C>G (p.Thr251Ser) c.1019C>G (p.Thr340Ser) c.977C>G (p.Thr326Ser) c.875C>G (p.Thr292Ser) c.839C>G (p.Thr280Ser) c.680C>G (p.Thr227Ser) | |
1 | g.173909809G>T | CA343774351 | SERPINC1 | c.896C>A (p.Thr299Asn) n.547C>A c.559+2055C>A (n.559+2055C>A) c.752C>A (p.Thr251Asn) c.1019C>A (p.Thr340Asn) c.977C>A (p.Thr326Asn) c.875C>A (p.Thr292Asn) c.839C>A (p.Thr280Asn) c.680C>A (p.Thr227Asn) | |
1 | g.173909810T>A | CA343774354 | SERPINC1 | c.895A>T (p.Thr299Ser) n.546A>T c.559+2054A>T (n.559+2054A>T) c.751A>T (p.Thr251Ser) c.1018A>T (p.Thr340Ser) c.976A>T (p.Thr326Ser) c.874A>T (p.Thr292Ser) c.838A>T (p.Thr280Ser) c.679A>T (p.Thr227Ser) | dbSNP |
1 | g.173909810T>C | CA343774356 | SERPINC1 | c.895A>G (p.Thr299Ala) n.546A>G c.559+2054A>G (n.559+2054A>G) c.751A>G (p.Thr251Ala) c.1018A>G (p.Thr340Ala) c.976A>G (p.Thr326Ala) c.874A>G (p.Thr292Ala) c.838A>G (p.Thr280Ala) c.679A>G (p.Thr227Ala) | |
1 | g.173909810T>G | CA343774357 | SERPINC1 | c.895A>C (p.Thr299Pro) n.546A>C c.559+2054A>C (n.559+2054A>C) c.751A>C (p.Thr251Pro) c.1018A>C (p.Thr340Pro) c.976A>C (p.Thr326Pro) c.874A>C (p.Thr292Pro) c.838A>C (p.Thr280Pro) c.679A>C (p.Thr227Pro) | |
1 | g.173909810T= | CA1207937000 | SERPINC1 | c.895A= (p.Thr299=) n.546A= c.559+2054A= (n.559+2054A=) c.751A= (p.Thr251=) c.1018A= (p.Thr340=) c.976A= (p.Thr326=) c.874A= (p.Thr292=) c.838A= (p.Thr280=) c.679A= (p.Thr227=) | |
1 | g.173909811G>A | CA421942732 | SERPINC1 | c.894C>T (p.Gly298=) n.545C>T c.559+2053C>T (n.559+2053C>T) c.750C>T (p.Gly250=) c.1017C>T (p.Gly339=) c.975C>T (p.Gly325=) c.873C>T (p.Gly291=) c.837C>T (p.Gly279=) c.678C>T (p.Gly226=) | ClinVar dbSNP |
1 | g.173909811G>C | CA421942733 | SERPINC1 | c.894C>G (p.Gly298=) n.545C>G c.559+2053C>G (n.559+2053C>G) c.750C>G (p.Gly250=) c.1017C>G (p.Gly339=) c.975C>G (p.Gly325=) c.873C>G (p.Gly291=) c.837C>G (p.Gly279=) c.678C>G (p.Gly226=) | |
1 | g.173909811G>T | CA421942734 | SERPINC1 | c.894C>A (p.Gly298=) n.545C>A c.559+2053C>A (n.559+2053C>A) c.750C>A (p.Gly250=) c.1017C>A (p.Gly339=) c.975C>A (p.Gly325=) c.873C>A (p.Gly291=) c.837C>A (p.Gly279=) c.678C>A (p.Gly226=) | |
1 | g.173909812C>A | CA343774363 | SERPINC1 | c.893G>T (p.Gly298Val) n.544G>T c.559+2052G>T (n.559+2052G>T) c.749G>T (p.Gly250Val) c.1016G>T (p.Gly339Val) c.974G>T (p.Gly325Val) c.872G>T (p.Gly291Val) c.836G>T (p.Gly279Val) c.677G>T (p.Gly226Val) | |
1 | g.173909812C>G | CA343774359 | SERPINC1 | c.893G>C (p.Gly298Ala) n.544G>C c.559+2052G>C (n.559+2052G>C) c.749G>C (p.Gly250Ala) c.1016G>C (p.Gly339Ala) c.974G>C (p.Gly325Ala) c.872G>C (p.Gly291Ala) c.836G>C (p.Gly279Ala) c.677G>C (p.Gly226Ala) | |
1 | g.173909812C>T | CA343774361 | SERPINC1 | c.893G>A (p.Gly298Asp) n.544G>A c.559+2052G>A (n.559+2052G>A) c.749G>A (p.Gly250Asp) c.1016G>A (p.Gly339Asp) c.974G>A (p.Gly325Asp) c.872G>A (p.Gly291Asp) c.836G>A (p.Gly279Asp) c.677G>A (p.Gly226Asp) | COSMIC |
1 | g.173909813C>A | CA343774365 | SERPINC1 | c.892G>T (p.Gly298Cys) n.543G>T c.559+2051G>T (n.559+2051G>T) c.748G>T (p.Gly250Cys) c.1015G>T (p.Gly339Cys) c.973G>T (p.Gly325Cys) c.871G>T (p.Gly291Cys) c.835G>T (p.Gly279Cys) c.676G>T (p.Gly226Cys) | |
1 | g.173909813C>G | CA343774367 | SERPINC1 | c.892G>C (p.Gly298Arg) n.543G>C c.559+2051G>C (n.559+2051G>C) c.748G>C (p.Gly250Arg) c.1015G>C (p.Gly339Arg) c.973G>C (p.Gly325Arg) c.871G>C (p.Gly291Arg) c.835G>C (p.Gly279Arg) c.676G>C (p.Gly226Arg) | gnomAD v4 |
1 | g.173909813C>T | CA343774368 | SERPINC1 | c.892G>A (p.Gly298Ser) n.543G>A c.559+2051G>A (n.559+2051G>A) c.748G>A (p.Gly250Ser) c.1015G>A (p.Gly339Ser) c.973G>A (p.Gly325Ser) c.871G>A (p.Gly291Ser) c.835G>A (p.Gly279Ser) c.676G>A (p.Gly226Ser) | |
1 | g.173909814T>A | CA343774370 | SERPINC1 | c.891A>T (p.Glu297Asp) n.542A>T c.559+2050A>T (n.559+2050A>T) c.747A>T (p.Glu249Asp) c.1014A>T (p.Glu338Asp) c.972A>T (p.Glu324Asp) c.870A>T (p.Glu290Asp) c.834A>T (p.Glu278Asp) c.675A>T (p.Glu225Asp) | |
1 | g.173909814T>C | CA421942735 | SERPINC1 | c.891A>G (p.Glu297=) n.542A>G c.559+2050A>G (n.559+2050A>G) c.747A>G (p.Glu249=) c.1014A>G (p.Glu338=) c.972A>G (p.Glu324=) c.870A>G (p.Glu290=) c.834A>G (p.Glu278=) c.675A>G (p.Glu225=) | dbSNP |
1 | g.173909814T>G | CA343774372 | SERPINC1 | c.891A>C (p.Glu297Asp) n.542A>C c.559+2050A>C (n.559+2050A>C) c.747A>C (p.Glu249Asp) c.1014A>C (p.Glu338Asp) c.972A>C (p.Glu324Asp) c.870A>C (p.Glu290Asp) c.834A>C (p.Glu278Asp) c.675A>C (p.Glu225Asp) | |
1 | g.173909814T= | CA1207937001 | SERPINC1 | c.891A= (p.Glu297=) n.542A= c.559+2050A= (n.559+2050A=) c.747A= (p.Glu249=) c.1014A= (p.Glu338=) c.972A= (p.Glu324=) c.870A= (p.Glu290=) c.834A= (p.Glu278=) c.675A= (p.Glu225=) | |
1 | g.173909815T>A | CA343774374 | SERPINC1 | c.890A>T (p.Glu297Val) n.541A>T c.559+2049A>T (n.559+2049A>T) c.746A>T (p.Glu249Val) c.1013A>T (p.Glu338Val) c.971A>T (p.Glu324Val) c.869A>T (p.Glu290Val) c.833A>T (p.Glu278Val) c.674A>T (p.Glu225Val) | |
1 | g.173909815T>C | CA343774375 | SERPINC1 | c.890A>G (p.Glu297Gly) n.541A>G c.559+2049A>G (n.559+2049A>G) c.746A>G (p.Glu249Gly) c.1013A>G (p.Glu338Gly) c.971A>G (p.Glu324Gly) c.869A>G (p.Glu290Gly) c.833A>G (p.Glu278Gly) c.674A>G (p.Glu225Gly) | gnomAD v4 |
1 | g.173909815T>G | CA343774377 | SERPINC1 | c.890A>C (p.Glu297Ala) n.541A>C c.559+2049A>C (n.559+2049A>C) c.746A>C (p.Glu249Ala) c.1013A>C (p.Glu338Ala) c.971A>C (p.Glu324Ala) c.869A>C (p.Glu290Ala) c.833A>C (p.Glu278Ala) c.674A>C (p.Glu225Ala) | dbSNP gnomAD v4 |
1 | g.173909815T= | CA1207937002 | SERPINC1 | c.890A= (p.Glu297=) n.541A= c.559+2049A= (n.559+2049A=) c.746A= (p.Glu249=) c.1013A= (p.Glu338=) c.971A= (p.Glu324=) c.869A= (p.Glu290=) c.833A= (p.Glu278=) c.674A= (p.Glu225=) | |
1 | g.173909816C>A | CA343774380 | SERPINC1 | c.889G>T (p.Glu297Ter) n.540G>T c.559+2048G>T (n.559+2048G>T) c.745G>T (p.Glu249Ter) c.1012G>T (p.Glu338Ter) c.970G>T (p.Glu324Ter) c.868G>T (p.Glu290Ter) c.832G>T (p.Glu278Ter) c.673G>T (p.Glu225Ter) | COSMIC |
1 | g.173909816C= | CA1207937003 | SERPINC1 | c.889G= (p.Glu297=) n.540G= c.559+2048G= (n.559+2048G=) c.745G= (p.Glu249=) c.1012G= (p.Glu338=) c.970G= (p.Glu324=) c.868G= (p.Glu290=) c.832G= (p.Glu278=) c.673G= (p.Glu225=) | |
1 | g.173909816C>G | CA343774381 | SERPINC1 | c.889G>C (p.Glu297Gln) n.540G>C c.559+2048G>C (n.559+2048G>C) c.745G>C (p.Glu249Gln) c.1012G>C (p.Glu338Gln) c.970G>C (p.Glu324Gln) c.868G>C (p.Glu290Gln) c.832G>C (p.Glu278Gln) c.673G>C (p.Glu225Gln) | |
1 | g.173909816C>T | CA343774383 | SERPINC1 | c.889G>A (p.Glu297Lys) n.540G>A c.559+2048G>A (n.559+2048G>A) c.745G>A (p.Glu249Lys) c.1012G>A (p.Glu338Lys) c.970G>A (p.Glu324Lys) c.868G>A (p.Glu290Lys) c.832G>A (p.Glu278Lys) c.673G>A (p.Glu225Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909817A= | CA1207937004 | SERPINC1 | c.888T= (p.Ala296=) n.539T= c.559+2047T= (n.559+2047T=) c.744T= (p.Ala248=) c.1011T= (p.Ala337=) c.969T= (p.Ala323=) c.867T= (p.Ala289=) c.831T= (p.Ala277=) c.672T= (p.Ala224=) | |
1 | g.173909817A>C | CA421942736 | SERPINC1 | c.888T>G (p.Ala296=) n.539T>G c.559+2047T>G (n.559+2047T>G) c.744T>G (p.Ala248=) c.1011T>G (p.Ala337=) c.969T>G (p.Ala323=) c.867T>G (p.Ala289=) c.831T>G (p.Ala277=) c.672T>G (p.Ala224=) | |
1 | g.173909817A>G | CA32780362 | SERPINC1 | c.888T>C (p.Ala296=) n.539T>C c.559+2047T>C (n.559+2047T>C) c.744T>C (p.Ala248=) c.1011T>C (p.Ala337=) c.969T>C (p.Ala323=) c.867T>C (p.Ala289=) c.831T>C (p.Ala277=) c.672T>C (p.Ala224=) | dbSNP gnomAD v4 |
1 | g.173909817A>T | CA421942737 | SERPINC1 | c.888T>A (p.Ala296=) n.539T>A c.559+2047T>A (n.559+2047T>A) c.744T>A (p.Ala248=) c.1011T>A (p.Ala337=) c.969T>A (p.Ala323=) c.867T>A (p.Ala289=) c.831T>A (p.Ala277=) c.672T>A (p.Ala224=) | dbSNP |
1 | g.173909818G>A | CA343774386 | SERPINC1 | c.887C>T (p.Ala296Val) n.538C>T c.559+2046C>T (n.559+2046C>T) c.743C>T (p.Ala248Val) c.1010C>T (p.Ala337Val) c.968C>T (p.Ala323Val) c.866C>T (p.Ala289Val) c.830C>T (p.Ala277Val) c.671C>T (p.Ala224Val) | dbSNP |
1 | g.173909818G>C | CA343774387 | SERPINC1 | c.887C>G (p.Ala296Gly) n.538C>G c.559+2046C>G (n.559+2046C>G) c.743C>G (p.Ala248Gly) c.1010C>G (p.Ala337Gly) c.968C>G (p.Ala323Gly) c.866C>G (p.Ala289Gly) c.830C>G (p.Ala277Gly) c.671C>G (p.Ala224Gly) | |
1 | g.173909818G= | CA1207937005 | SERPINC1 | c.887C= (p.Ala296=) n.538C= c.559+2046C= (n.559+2046C=) c.743C= (p.Ala248=) c.1010C= (p.Ala337=) c.968C= (p.Ala323=) c.866C= (p.Ala289=) c.830C= (p.Ala277=) c.671C= (p.Ala224=) | |
1 | g.173909818G>T | CA343774384 | SERPINC1 | c.887C>A (p.Ala296Asp) n.538C>A c.559+2046C>A (n.559+2046C>A) c.743C>A (p.Ala248Asp) c.1010C>A (p.Ala337Asp) c.968C>A (p.Ala323Asp) c.866C>A (p.Ala289Asp) c.830C>A (p.Ala277Asp) c.671C>A (p.Ala224Asp) | |
1 | g.173909819C>A | CA343774392 | SERPINC1 | c.886G>T (p.Ala296Ser) n.537G>T c.559+2045G>T (n.559+2045G>T) c.742G>T (p.Ala248Ser) c.1009G>T (p.Ala337Ser) c.967G>T (p.Ala323Ser) c.865G>T (p.Ala289Ser) c.829G>T (p.Ala277Ser) c.670G>T (p.Ala224Ser) | |
1 | g.173909819C= | CA1143888303 | SERPINC1 | c.886G= (p.Ala296=) n.537G= c.559+2045G= (n.559+2045G=) c.742G= (p.Ala248=) c.1009G= (p.Ala337=) c.967G= (p.Ala323=) c.865G= (p.Ala289=) c.829G= (p.Ala277=) c.670G= (p.Ala224=) | |
1 | g.173909819C>G | CA211882 | SERPINC1 | c.886G>C (p.Ala296Pro) n.537G>C c.559+2045G>C (n.559+2045G>C) c.742G>C (p.Ala248Pro) c.1009G>C (p.Ala337Pro) c.967G>C (p.Ala323Pro) c.865G>C (p.Ala289Pro) c.829G>C (p.Ala277Pro) c.670G>C (p.Ala224Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909819C>T | CA343774390 | SERPINC1 | c.886G>A (p.Ala296Thr) n.537G>A c.559+2045G>A (n.559+2045G>A) c.742G>A (p.Ala248Thr) c.1009G>A (p.Ala337Thr) c.967G>A (p.Ala323Thr) c.865G>A (p.Ala289Thr) c.829G>A (p.Ala277Thr) c.670G>A (p.Ala224Thr) | |
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=) |