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.173909531G>A | CA1251272 | SERPINC1 | c.1153+21C>T (n.1153+21C>T) c.560-2038C>T (n.560-2038C>T) c.1009+21C>T (n.1009+21C>T) c.1276+21C>T (n.1276+21C>T) c.1234+21C>T (n.1234+21C>T) c.1132+21C>T (n.1132+21C>T) c.1096+21C>T (n.1096+21C>T) c.937+21C>T (n.937+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909531G= | CA1146089478 | SERPINC1 | c.1153+21C= (n.1153+21C=) c.560-2038C= (n.560-2038C=) c.1009+21C= (n.1009+21C=) c.1276+21C= (n.1276+21C=) c.1234+21C= (n.1234+21C=) c.1132+21C= (n.1132+21C=) c.1096+21C= (n.1096+21C=) c.937+21C= (n.937+21C=) | |
1 | g.173909531G>T | CA2649173911 | SERPINC1 | c.1153+21C>A (n.1153+21C>A) c.560-2038C>A (n.560-2038C>A) c.1009+21C>A (n.1009+21C>A) c.1276+21C>A (n.1276+21C>A) c.1234+21C>A (n.1234+21C>A) c.1132+21C>A (n.1132+21C>A) c.1096+21C>A (n.1096+21C>A) c.937+21C>A (n.937+21C>A) | gnomAD v4 |
1 | g.173909532A= | CA1207936889 | SERPINC1 | c.1153+20T= (n.1153+20T=) c.560-2039T= (n.560-2039T=) c.1009+20T= (n.1009+20T=) c.1276+20T= (n.1276+20T=) c.1234+20T= (n.1234+20T=) c.1132+20T= (n.1132+20T=) c.1096+20T= (n.1096+20T=) c.937+20T= (n.937+20T=) | |
1 | g.173909532A>C | CA32780196 | SERPINC1 | c.1153+20T>G (n.1153+20T>G) c.560-2039T>G (n.560-2039T>G) c.1009+20T>G (n.1009+20T>G) c.1276+20T>G (n.1276+20T>G) c.1234+20T>G (n.1234+20T>G) c.1132+20T>G (n.1132+20T>G) c.1096+20T>G (n.1096+20T>G) c.937+20T>G (n.937+20T>G) | dbSNP |
1 | g.173909534A>G | CA2649173913 | SERPINC1 | c.1153+18T>C (n.1153+18T>C) c.560-2041T>C (n.560-2041T>C) c.1009+18T>C (n.1009+18T>C) c.1276+18T>C (n.1276+18T>C) c.1234+18T>C (n.1234+18T>C) c.1132+18T>C (n.1132+18T>C) c.1096+18T>C (n.1096+18T>C) c.937+18T>C (n.937+18T>C) | gnomAD v4 |
1 | g.173909535C= | CA1207936890 | SERPINC1 | c.1153+17G= (n.1153+17G=) c.560-2042G= (n.560-2042G=) c.1009+17G= (n.1009+17G=) c.1276+17G= (n.1276+17G=) c.1234+17G= (n.1234+17G=) c.1132+17G= (n.1132+17G=) c.1096+17G= (n.1096+17G=) c.937+17G= (n.937+17G=) | |
1 | g.173909535C>G | CA1251273 | SERPINC1 | c.1153+17G>C (n.1153+17G>C) c.560-2042G>C (n.560-2042G>C) c.1009+17G>C (n.1009+17G>C) c.1276+17G>C (n.1276+17G>C) c.1234+17G>C (n.1234+17G>C) c.1132+17G>C (n.1132+17G>C) c.1096+17G>C (n.1096+17G>C) c.937+17G>C (n.937+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909535C>T | CA527601266 | SERPINC1 | c.1153+17G>A (n.1153+17G>A) c.560-2042G>A (n.560-2042G>A) c.1009+17G>A (n.1009+17G>A) c.1276+17G>A (n.1276+17G>A) c.1234+17G>A (n.1234+17G>A) c.1132+17G>A (n.1132+17G>A) c.1096+17G>A (n.1096+17G>A) c.937+17G>A (n.937+17G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909537C>A | CA2649173918 | SERPINC1 | c.1153+15G>T (n.1153+15G>T) c.560-2044G>T (n.560-2044G>T) c.1009+15G>T (n.1009+15G>T) c.1276+15G>T (n.1276+15G>T) c.1234+15G>T (n.1234+15G>T) c.1132+15G>T (n.1132+15G>T) c.1096+15G>T (n.1096+15G>T) c.937+15G>T (n.937+15G>T) | gnomAD v4 |
1 | g.173909537C= | CA1143693481 | SERPINC1 | c.1153+15G= (n.1153+15G=) c.560-2044G= (n.560-2044G=) c.1009+15G= (n.1009+15G=) c.1276+15G= (n.1276+15G=) c.1234+15G= (n.1234+15G=) c.1132+15G= (n.1132+15G=) c.1096+15G= (n.1096+15G=) c.937+15G= (n.937+15G=) | |
1 | g.173909537C>T | CA1251274 | SERPINC1 | c.1153+15G>A (n.1153+15G>A) c.560-2044G>A (n.560-2044G>A) c.1009+15G>A (n.1009+15G>A) c.1276+15G>A (n.1276+15G>A) c.1234+15G>A (n.1234+15G>A) c.1132+15G>A (n.1132+15G>A) c.1096+15G>A (n.1096+15G>A) c.937+15G>A (n.937+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909538C= | CA1207936891 | SERPINC1 | c.1153+14G= (n.1153+14G=) c.560-2045G= (n.560-2045G=) c.1009+14G= (n.1009+14G=) c.1276+14G= (n.1276+14G=) c.1234+14G= (n.1234+14G=) c.1132+14G= (n.1132+14G=) c.1096+14G= (n.1096+14G=) c.937+14G= (n.937+14G=) | |
1 | g.173909538C>G | CA32780200 | SERPINC1 | c.1153+14G>C (n.1153+14G>C) c.560-2045G>C (n.560-2045G>C) c.1009+14G>C (n.1009+14G>C) c.1276+14G>C (n.1276+14G>C) c.1234+14G>C (n.1234+14G>C) c.1132+14G>C (n.1132+14G>C) c.1096+14G>C (n.1096+14G>C) c.937+14G>C (n.937+14G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909540T>C | CA2649173920 | SERPINC1 | c.1153+12A>G (n.1153+12A>G) c.560-2047A>G (n.560-2047A>G) c.1009+12A>G (n.1009+12A>G) c.1276+12A>G (n.1276+12A>G) c.1234+12A>G (n.1234+12A>G) c.1132+12A>G (n.1132+12A>G) c.1096+12A>G (n.1096+12A>G) c.937+12A>G (n.937+12A>G) | gnomAD v4 |
1 | g.173909543T>C | CA2649173922 | SERPINC1 | c.1153+9A>G (n.1153+9A>G) c.560-2050A>G (n.560-2050A>G) c.1009+9A>G (n.1009+9A>G) c.1276+9A>G (n.1276+9A>G) c.1234+9A>G (n.1234+9A>G) c.1132+9A>G (n.1132+9A>G) c.1096+9A>G (n.1096+9A>G) c.937+9A>G (n.937+9A>G) | gnomAD v4 |
1 | g.173909543dup | CA2649173921 | SERPINC1 | c.1153+9dup (n.1153+9dup) c.560-2050dup (n.560-2050dup) c.1009+9dup (n.1009+9dup) c.1276+9dup (n.1276+9dup) c.1234+9dup (n.1234+9dup) c.1132+9dup (n.1132+9dup) c.1096+9dup (n.1096+9dup) c.937+9dup (n.937+9dup) | gnomAD v4 |
1 | g.173909545G>A | CA2740090406 | SERPINC1 | c.1153+7C>T (n.1153+7C>T) c.560-2052C>T (n.560-2052C>T) c.1009+7C>T (n.1009+7C>T) c.1276+7C>T (n.1276+7C>T) c.1234+7C>T (n.1234+7C>T) c.1132+7C>T (n.1132+7C>T) c.1096+7C>T (n.1096+7C>T) c.937+7C>T (n.937+7C>T) | ClinVar |
1 | g.173909547C>A | CA915943668 | SERPINC1 | c.1153+5G>T (n.1153+5G>T) c.560-2054G>T (n.560-2054G>T) c.1009+5G>T (n.1009+5G>T) c.1276+5G>T (n.1276+5G>T) c.1234+5G>T (n.1234+5G>T) c.1132+5G>T (n.1132+5G>T) c.1096+5G>T (n.1096+5G>T) c.937+5G>T (n.937+5G>T) | ClinVar dbSNP |
1 | g.173909547C= | CA1207936892 | SERPINC1 | c.1153+5G= (n.1153+5G=) c.560-2054G= (n.560-2054G=) c.1009+5G= (n.1009+5G=) c.1276+5G= (n.1276+5G=) c.1234+5G= (n.1234+5G=) c.1132+5G= (n.1132+5G=) c.1096+5G= (n.1096+5G=) c.937+5G= (n.937+5G=) | |
1 | g.173909547C>G | CA2586964399 | SERPINC1 | c.1153+5G>C (n.1153+5G>C) c.560-2054G>C (n.560-2054G>C) c.1009+5G>C (n.1009+5G>C) c.1276+5G>C (n.1276+5G>C) c.1234+5G>C (n.1234+5G>C) c.1132+5G>C (n.1132+5G>C) c.1096+5G>C (n.1096+5G>C) c.937+5G>C (n.937+5G>C) | gnomAD v4 |
1 | g.173909549A>C | CA2649173925 | SERPINC1 | c.1153+3T>G (n.1153+3T>G) c.560-2056T>G (n.560-2056T>G) c.1009+3T>G (n.1009+3T>G) c.1276+3T>G (n.1276+3T>G) c.1234+3T>G (n.1234+3T>G) c.1132+3T>G (n.1132+3T>G) c.1096+3T>G (n.1096+3T>G) c.937+3T>G (n.937+3T>G) | gnomAD v4 |
1 | g.173909550A>C | CA343773453 | SERPINC1 | c.1153+2T>G (n.1153+2T>G) c.560-2057T>G (n.560-2057T>G) c.1009+2T>G (n.1009+2T>G) c.1276+2T>G (n.1276+2T>G) c.1234+2T>G (n.1234+2T>G) c.1132+2T>G (n.1132+2T>G) c.1096+2T>G (n.1096+2T>G) c.937+2T>G (n.937+2T>G) | |
1 | g.173909550A>G | CA343773451 | SERPINC1 | c.1153+2T>C (n.1153+2T>C) c.560-2057T>C (n.560-2057T>C) c.1009+2T>C (n.1009+2T>C) c.1276+2T>C (n.1276+2T>C) c.1234+2T>C (n.1234+2T>C) c.1132+2T>C (n.1132+2T>C) c.1096+2T>C (n.1096+2T>C) c.937+2T>C (n.937+2T>C) | |
1 | g.173909550A>T | CA343773452 | SERPINC1 | c.1153+2T>A (n.1153+2T>A) c.560-2057T>A (n.560-2057T>A) c.1009+2T>A (n.1009+2T>A) c.1276+2T>A (n.1276+2T>A) c.1234+2T>A (n.1234+2T>A) c.1132+2T>A (n.1132+2T>A) c.1096+2T>A (n.1096+2T>A) c.937+2T>A (n.937+2T>A) | |
1 | g.173909551C>A | CA343773454 | SERPINC1 | c.1153+1G>T (n.1153+1G>T) c.560-2058G>T (n.560-2058G>T) c.1009+1G>T (n.1009+1G>T) c.1276+1G>T (n.1276+1G>T) c.1234+1G>T (n.1234+1G>T) c.1132+1G>T (n.1132+1G>T) c.1096+1G>T (n.1096+1G>T) c.937+1G>T (n.937+1G>T) | |
1 | g.173909551C>G | CA343773455 | SERPINC1 | c.1153+1G>C (n.1153+1G>C) c.560-2058G>C (n.560-2058G>C) c.1009+1G>C (n.1009+1G>C) c.1276+1G>C (n.1276+1G>C) c.1234+1G>C (n.1234+1G>C) c.1132+1G>C (n.1132+1G>C) c.1096+1G>C (n.1096+1G>C) c.937+1G>C (n.937+1G>C) | |
1 | g.173909551C>T | CA343773456 | SERPINC1 | c.1153+1G>A (n.1153+1G>A) c.560-2058G>A (n.560-2058G>A) c.1009+1G>A (n.1009+1G>A) c.1276+1G>A (n.1276+1G>A) c.1234+1G>A (n.1234+1G>A) c.1132+1G>A (n.1132+1G>A) c.1096+1G>A (n.1096+1G>A) c.937+1G>A (n.937+1G>A) | |
1 | g.173909551_173909552del | CA2695195500 | SERPINC1 | c.1153_1153+1del c.560-2059_560-2058del (n.560-2059_560-2058del) c.1009_1009+1del c.1276_1276+1del c.1234_1234+1del c.1132_1132+1del c.1096_1096+1del c.937_937+1del | |
1 | g.173909552del | CA2582343009 | SERPINC1 | c.1153+1del c.560-2058del (n.560-2058del) c.1009+1del c.1276+1del c.1234+1del c.1132+1del c.1096+1del c.937+1del | |
1 | g.173909552C>A | CA343773457 | SERPINC1 | c.1153G>T (p.Gly385Cys) c.560-2059G>T (n.560-2059G>T) c.1009G>T (p.Gly337Cys) c.1276G>T (p.Gly426Cys) c.1234G>T (p.Gly412Cys) c.1132G>T (p.Gly378Cys) c.1096G>T (p.Gly366Cys) c.937G>T (p.Gly313Cys) | |
1 | g.173909552C>G | CA343773458 | SERPINC1 | c.1153G>C (p.Gly385Arg) c.560-2059G>C (n.560-2059G>C) c.1009G>C (p.Gly337Arg) c.1276G>C (p.Gly426Arg) c.1234G>C (p.Gly412Arg) c.1132G>C (p.Gly378Arg) c.1096G>C (p.Gly366Arg) c.937G>C (p.Gly313Arg) | |
1 | g.173909552C>T | CA343773459 | SERPINC1 | c.1153G>A (p.Gly385Ser) c.560-2059G>A (n.560-2059G>A) c.1009G>A (p.Gly337Ser) c.1276G>A (p.Gly426Ser) c.1234G>A (p.Gly412Ser) c.1132G>A (p.Gly378Ser) c.1096G>A (p.Gly366Ser) c.937G>A (p.Gly313Ser) | |
1 | g.173909553T>A | CA421942772 | SERPINC1 | c.1152A>T (p.Pro384=) c.560-2060A>T (n.560-2060A>T) c.1008A>T (p.Pro336=) c.1275A>T (p.Pro425=) c.1233A>T (p.Pro411=) c.1131A>T (p.Pro377=) c.1095A>T (p.Pro365=) c.936A>T (p.Pro312=) | |
1 | g.173909553T>C | CA421942771 | SERPINC1 | c.1152A>G (p.Pro384=) c.560-2060A>G (n.560-2060A>G) c.1008A>G (p.Pro336=) c.1275A>G (p.Pro425=) c.1233A>G (p.Pro411=) c.1131A>G (p.Pro377=) c.1095A>G (p.Pro365=) c.936A>G (p.Pro312=) | gnomAD v4 |
1 | g.173909553T>G | CA421942770 | SERPINC1 | c.1152A>C (p.Pro384=) c.560-2060A>C (n.560-2060A>C) c.1008A>C (p.Pro336=) c.1275A>C (p.Pro425=) c.1233A>C (p.Pro411=) c.1131A>C (p.Pro377=) c.1095A>C (p.Pro365=) c.936A>C (p.Pro312=) | |
1 | g.173909554G>A | CA1251275 | SERPINC1 | c.1151C>T (p.Pro384Leu) c.560-2061C>T (n.560-2061C>T) c.1007C>T (p.Pro336Leu) c.1274C>T (p.Pro425Leu) c.1232C>T (p.Pro411Leu) c.1130C>T (p.Pro377Leu) c.1094C>T (p.Pro365Leu) c.935C>T (p.Pro312Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909554G>C | CA343773460 | SERPINC1 | c.1151C>G (p.Pro384Arg) c.560-2061C>G (n.560-2061C>G) c.1007C>G (p.Pro336Arg) c.1274C>G (p.Pro425Arg) c.1232C>G (p.Pro411Arg) c.1130C>G (p.Pro377Arg) c.1094C>G (p.Pro365Arg) c.935C>G (p.Pro312Arg) | |
1 | g.173909554G= | CA1207936893 | SERPINC1 | c.1151C= (p.Pro384=) c.560-2061C= (n.560-2061C=) c.1007C= (p.Pro336=) c.1274C= (p.Pro425=) c.1232C= (p.Pro411=) c.1130C= (p.Pro377=) c.1094C= (p.Pro365=) c.935C= (p.Pro312=) | |
1 | g.173909554G>T | CA343773461 | SERPINC1 | c.1151C>A (p.Pro384Gln) c.560-2061C>A (n.560-2061C>A) c.1007C>A (p.Pro336Gln) c.1274C>A (p.Pro425Gln) c.1232C>A (p.Pro411Gln) c.1130C>A (p.Pro377Gln) c.1094C>A (p.Pro365Gln) c.935C>A (p.Pro312Gln) | |
1 | g.173909555G>A | CA343773462 | SERPINC1 | c.1150C>T (p.Pro384Ser) c.560-2062C>T (n.560-2062C>T) c.1006C>T (p.Pro336Ser) c.1273C>T (p.Pro425Ser) c.1231C>T (p.Pro411Ser) c.1129C>T (p.Pro377Ser) c.1093C>T (p.Pro365Ser) c.934C>T (p.Pro312Ser) | gnomAD v4 |
1 | g.173909555G>C | CA343773463 | SERPINC1 | c.1150C>G (p.Pro384Ala) c.560-2062C>G (n.560-2062C>G) c.1006C>G (p.Pro336Ala) c.1273C>G (p.Pro425Ala) c.1231C>G (p.Pro411Ala) c.1129C>G (p.Pro377Ala) c.1093C>G (p.Pro365Ala) c.934C>G (p.Pro312Ala) | |
1 | g.173909555G>T | CA343773464 | SERPINC1 | c.1150C>A (p.Pro384Thr) c.560-2062C>A (n.560-2062C>A) c.1006C>A (p.Pro336Thr) c.1273C>A (p.Pro425Thr) c.1231C>A (p.Pro411Thr) c.1129C>A (p.Pro377Thr) c.1093C>A (p.Pro365Thr) c.934C>A (p.Pro312Thr) | |
1 | g.173909556G>A | CA421942775 | SERPINC1 | c.1149C>T (p.Leu383=) c.560-2063C>T (n.560-2063C>T) c.1005C>T (p.Leu335=) c.1272C>T (p.Leu424=) c.1230C>T (p.Leu410=) c.1128C>T (p.Leu376=) c.1092C>T (p.Leu364=) c.933C>T (p.Leu311=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.173909556G>C | CA421942776 | SERPINC1 | c.1149C>G (p.Leu383=) c.560-2063C>G (n.560-2063C>G) c.1005C>G (p.Leu335=) c.1272C>G (p.Leu424=) c.1230C>G (p.Leu410=) c.1128C>G (p.Leu376=) c.1092C>G (p.Leu364=) c.933C>G (p.Leu311=) | |
1 | g.173909556G= | CA1207936894 | SERPINC1 | c.1149C= (p.Leu383=) c.560-2063C= (n.560-2063C=) c.1005C= (p.Leu335=) c.1272C= (p.Leu424=) c.1230C= (p.Leu410=) c.1128C= (p.Leu376=) c.1092C= (p.Leu364=) c.933C= (p.Leu311=) | |
1 | g.173909556G>T | CA421942777 | SERPINC1 | c.1149C>A (p.Leu383=) c.560-2063C>A (n.560-2063C>A) c.1005C>A (p.Leu335=) c.1272C>A (p.Leu424=) c.1230C>A (p.Leu410=) c.1128C>A (p.Leu376=) c.1092C>A (p.Leu364=) c.933C>A (p.Leu311=) | |
1 | g.173909557_173909558del | CA2586964400 | SERPINC1 | c.1148_1149del (p.Leu383ProfsTer10) c.560-2064_560-2063del (n.560-2064_560-2063del) c.1004_1005del (p.Leu335ProfsTer10) c.1271_1272del (p.Leu424ProfsTer10) c.1229_1230del (p.Leu410ProfsTer10) c.1127_1128del (p.Leu376ProfsTer10) c.1091_1092del (p.Leu364ProfsTer10) c.932_933del (p.Leu311ProfsTer10) | |
1 | g.173909557A>C | CA343773466 | SERPINC1 | c.1148T>G (p.Leu383Arg) c.560-2064T>G (n.560-2064T>G) c.1004T>G (p.Leu335Arg) c.1271T>G (p.Leu424Arg) c.1229T>G (p.Leu410Arg) c.1127T>G (p.Leu376Arg) c.1091T>G (p.Leu364Arg) c.932T>G (p.Leu311Arg) | |
1 | g.173909557A>G | CA343773467 | SERPINC1 | c.1148T>C (p.Leu383Pro) c.560-2064T>C (n.560-2064T>C) c.1004T>C (p.Leu335Pro) c.1271T>C (p.Leu424Pro) c.1229T>C (p.Leu410Pro) c.1127T>C (p.Leu376Pro) c.1091T>C (p.Leu364Pro) c.932T>C (p.Leu311Pro) | |
1 | g.173909557A>T | CA343773465 | SERPINC1 | c.1148T>A (p.Leu383His) c.560-2064T>A (n.560-2064T>A) c.1004T>A (p.Leu335His) c.1271T>A (p.Leu424His) c.1229T>A (p.Leu410His) c.1127T>A (p.Leu376His) c.1091T>A (p.Leu364His) c.932T>A (p.Leu311His) | |
1 | g.173909558del | CA2586964401 | SERPINC1 | c.1147del (p.Leu383SerfsTer25) c.560-2065del (n.560-2065del) c.1003del (p.Leu335SerfsTer25) c.1270del (p.Leu424SerfsTer25) c.1228del (p.Leu410SerfsTer25) c.1126del (p.Leu376SerfsTer25) c.1090del (p.Leu364SerfsTer25) c.931del (p.Leu311SerfsTer25) | |
1 | g.173909558G>A | CA343773470 | SERPINC1 | c.1147C>T (p.Leu383Phe) c.560-2065C>T (n.560-2065C>T) c.1003C>T (p.Leu335Phe) c.1270C>T (p.Leu424Phe) c.1228C>T (p.Leu410Phe) c.1126C>T (p.Leu376Phe) c.1090C>T (p.Leu364Phe) c.931C>T (p.Leu311Phe) | |
1 | g.173909558G>C | CA343773468 | SERPINC1 | c.1147C>G (p.Leu383Val) c.560-2065C>G (n.560-2065C>G) c.1003C>G (p.Leu335Val) c.1270C>G (p.Leu424Val) c.1228C>G (p.Leu410Val) c.1126C>G (p.Leu376Val) c.1090C>G (p.Leu364Val) c.931C>G (p.Leu311Val) | |
1 | g.173909558G>T | CA343773469 | SERPINC1 | c.1147C>A (p.Leu383Ile) c.560-2065C>A (n.560-2065C>A) c.1003C>A (p.Leu335Ile) c.1270C>A (p.Leu424Ile) c.1228C>A (p.Leu410Ile) c.1126C>A (p.Leu376Ile) c.1090C>A (p.Leu364Ile) c.931C>A (p.Leu311Ile) | |
1 | g.173909559T>A | CA343773471 | SERPINC1 | c.1146A>T (p.Lys382Asn) c.560-2066A>T (n.560-2066A>T) c.1002A>T (p.Lys334Asn) c.1269A>T (p.Lys423Asn) c.1227A>T (p.Lys409Asn) c.1125A>T (p.Lys375Asn) c.1089A>T (p.Lys363Asn) c.930A>T (p.Lys310Asn) | |
1 | g.173909559T>C | CA421942779 | SERPINC1 | c.1146A>G (p.Lys382=) c.560-2066A>G (n.560-2066A>G) c.1002A>G (p.Lys334=) c.1269A>G (p.Lys423=) c.1227A>G (p.Lys409=) c.1125A>G (p.Lys375=) c.1089A>G (p.Lys363=) c.930A>G (p.Lys310=) | |
1 | g.173909559T>G | CA343773472 | SERPINC1 | c.1146A>C (p.Lys382Asn) c.560-2066A>C (n.560-2066A>C) c.1002A>C (p.Lys334Asn) c.1269A>C (p.Lys423Asn) c.1227A>C (p.Lys409Asn) c.1125A>C (p.Lys375Asn) c.1089A>C (p.Lys363Asn) c.930A>C (p.Lys310Asn) | |
1 | g.173909560T>A | CA343773473 | SERPINC1 | c.1145A>T (p.Lys382Ile) c.560-2067A>T (n.560-2067A>T) c.1001A>T (p.Lys334Ile) c.1268A>T (p.Lys423Ile) c.1226A>T (p.Lys409Ile) c.1124A>T (p.Lys375Ile) c.1088A>T (p.Lys363Ile) c.929A>T (p.Lys310Ile) | |
1 | g.173909560T>C | CA343773474 | SERPINC1 | c.1145A>G (p.Lys382Arg) c.560-2067A>G (n.560-2067A>G) c.1001A>G (p.Lys334Arg) c.1268A>G (p.Lys423Arg) c.1226A>G (p.Lys409Arg) c.1124A>G (p.Lys375Arg) c.1088A>G (p.Lys363Arg) c.929A>G (p.Lys310Arg) | gnomAD v4 |
1 | g.173909560T>G | CA343773475 | SERPINC1 | c.1145A>C (p.Lys382Thr) c.560-2067A>C (n.560-2067A>C) c.1001A>C (p.Lys334Thr) c.1268A>C (p.Lys423Thr) c.1226A>C (p.Lys409Thr) c.1124A>C (p.Lys375Thr) c.1088A>C (p.Lys363Thr) c.929A>C (p.Lys310Thr) | |
1 | g.173909561T>A | CA343773476 | SERPINC1 | c.1144A>T (p.Lys382Ter) c.560-2068A>T (n.560-2068A>T) c.1000A>T (p.Lys334Ter) c.1267A>T (p.Lys423Ter) c.1225A>T (p.Lys409Ter) c.1123A>T (p.Lys375Ter) c.1087A>T (p.Lys363Ter) c.928A>T (p.Lys310Ter) | |
1 | g.173909561T>C | CA343773477 | SERPINC1 | c.1144A>G (p.Lys382Glu) c.560-2068A>G (n.560-2068A>G) c.1000A>G (p.Lys334Glu) c.1267A>G (p.Lys423Glu) c.1225A>G (p.Lys409Glu) c.1123A>G (p.Lys375Glu) c.1087A>G (p.Lys363Glu) c.928A>G (p.Lys310Glu) | gnomAD v4 |
1 | g.173909561T>G | CA1251276 | SERPINC1 | c.1144A>C (p.Lys382Gln) c.560-2068A>C (n.560-2068A>C) c.1000A>C (p.Lys334Gln) c.1267A>C (p.Lys423Gln) c.1225A>C (p.Lys409Gln) c.1123A>C (p.Lys375Gln) c.1087A>C (p.Lys363Gln) c.928A>C (p.Lys310Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909561T= | CA1207936895 | SERPINC1 | c.1144A= (p.Lys382=) c.560-2068A= (n.560-2068A=) c.1000A= (p.Lys334=) c.1267A= (p.Lys423=) c.1225A= (p.Lys409=) c.1123A= (p.Lys375=) c.1087A= (p.Lys363=) c.928A= (p.Lys310=) | |
1 | g.173909562G>A | CA421942780 | SERPINC1 | c.1143C>T (p.Ser381=) c.560-2069C>T (n.560-2069C>T) c.999C>T (p.Ser333=) c.1266C>T (p.Ser422=) c.1224C>T (p.Ser408=) c.1122C>T (p.Ser374=) c.1086C>T (p.Ser362=) c.927C>T (p.Ser309=) | |
1 | g.173909562G>C | CA421942781 | SERPINC1 | c.1143C>G (p.Ser381=) c.560-2069C>G (n.560-2069C>G) c.999C>G (p.Ser333=) c.1266C>G (p.Ser422=) c.1224C>G (p.Ser408=) c.1122C>G (p.Ser374=) c.1086C>G (p.Ser362=) c.927C>G (p.Ser309=) | |
1 | g.173909562G>T | CA421942782 | SERPINC1 | c.1143C>A (p.Ser381=) c.560-2069C>A (n.560-2069C>A) c.999C>A (p.Ser333=) c.1266C>A (p.Ser422=) c.1224C>A (p.Ser408=) c.1122C>A (p.Ser374=) c.1086C>A (p.Ser362=) c.927C>A (p.Ser309=) | |
1 | g.173909563G>A | CA343773478 | SERPINC1 | c.1142C>T (p.Ser381Phe) c.560-2070C>T (n.560-2070C>T) c.998C>T (p.Ser333Phe) c.1265C>T (p.Ser422Phe) c.1223C>T (p.Ser408Phe) c.1121C>T (p.Ser374Phe) c.1085C>T (p.Ser362Phe) c.926C>T (p.Ser309Phe) | |
1 | g.173909563G>C | CA343773479 | SERPINC1 | c.1142C>G (p.Ser381Cys) c.560-2070C>G (n.560-2070C>G) c.998C>G (p.Ser333Cys) c.1265C>G (p.Ser422Cys) c.1223C>G (p.Ser408Cys) c.1121C>G (p.Ser374Cys) c.1085C>G (p.Ser362Cys) c.926C>G (p.Ser309Cys) | dbSNP COSMIC |
1 | g.173909563G= | CA1207936896 | SERPINC1 | c.1142C= (p.Ser381=) c.560-2070C= (n.560-2070C=) c.998C= (p.Ser333=) c.1265C= (p.Ser422=) c.1223C= (p.Ser408=) c.1121C= (p.Ser374=) c.1085C= (p.Ser362=) c.926C= (p.Ser309=) | |
1 | g.173909563G>T | CA343773480 | SERPINC1 | c.1142C>A (p.Ser381Tyr) c.560-2070C>A (n.560-2070C>A) c.998C>A (p.Ser333Tyr) c.1265C>A (p.Ser422Tyr) c.1223C>A (p.Ser408Tyr) c.1121C>A (p.Ser374Tyr) c.1085C>A (p.Ser362Tyr) c.926C>A (p.Ser309Tyr) | gnomAD v4 |
1 | g.173909564A= | CA1141581216 | SERPINC1 | c.1141T= (p.Ser381=) c.560-2071T= (n.560-2071T=) c.997T= (p.Ser333=) c.1264T= (p.Ser422=) c.1222T= (p.Ser408=) c.1120T= (p.Ser374=) c.1084T= (p.Ser362=) c.925T= (p.Ser309=) | |
1 | g.173909564A>C | CA343773481 | SERPINC1 | c.1141T>G (p.Ser381Ala) c.560-2071T>G (n.560-2071T>G) c.997T>G (p.Ser333Ala) c.1264T>G (p.Ser422Ala) c.1222T>G (p.Ser408Ala) c.1120T>G (p.Ser374Ala) c.1084T>G (p.Ser362Ala) c.925T>G (p.Ser309Ala) | |
1 | g.173909564A>G | CA210783 | SERPINC1 | c.1141T>C (p.Ser381Pro) c.560-2071T>C (n.560-2071T>C) c.997T>C (p.Ser333Pro) c.1264T>C (p.Ser422Pro) c.1222T>C (p.Ser408Pro) c.1120T>C (p.Ser374Pro) c.1084T>C (p.Ser362Pro) c.925T>C (p.Ser309Pro) | ClinVar dbSNP |
1 | g.173909564A>T | CA343773482 | SERPINC1 | c.1141T>A (p.Ser381Thr) c.560-2071T>A (n.560-2071T>A) c.997T>A (p.Ser333Thr) c.1264T>A (p.Ser422Thr) c.1222T>A (p.Ser408Thr) c.1120T>A (p.Ser374Thr) c.1084T>A (p.Ser362Thr) c.925T>A (p.Ser309Thr) | |
1 | g.173909565C>A | CA343773483 | SERPINC1 | c.1140G>T (p.Lys380Asn) c.560-2072G>T (n.560-2072G>T) c.996G>T (p.Lys332Asn) c.1263G>T (p.Lys421Asn) c.1221G>T (p.Lys407Asn) c.1119G>T (p.Lys373Asn) c.1083G>T (p.Lys361Asn) c.924G>T (p.Lys308Asn) | |
1 | g.173909565C= | CA1207936897 | SERPINC1 | c.1140G= (p.Lys380=) c.560-2072G= (n.560-2072G=) c.996G= (p.Lys332=) c.1263G= (p.Lys421=) c.1221G= (p.Lys407=) c.1119G= (p.Lys373=) c.1083G= (p.Lys361=) c.924G= (p.Lys308=) | |
1 | g.173909565C>G | CA343773484 | SERPINC1 | c.1140G>C (p.Lys380Asn) c.560-2072G>C (n.560-2072G>C) c.996G>C (p.Lys332Asn) c.1263G>C (p.Lys421Asn) c.1221G>C (p.Lys407Asn) c.1119G>C (p.Lys373Asn) c.1083G>C (p.Lys361Asn) c.924G>C (p.Lys308Asn) | |
1 | g.173909565C>T | CA421942784 | SERPINC1 | c.1140G>A (p.Lys380=) c.560-2072G>A (n.560-2072G>A) c.996G>A (p.Lys332=) c.1263G>A (p.Lys421=) c.1221G>A (p.Lys407=) c.1119G>A (p.Lys373=) c.1083G>A (p.Lys361=) c.924G>A (p.Lys308=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909566T>A | CA343773485 | SERPINC1 | c.1139A>T (p.Lys380Met) c.560-2073A>T (n.560-2073A>T) c.995A>T (p.Lys332Met) c.1262A>T (p.Lys421Met) c.1220A>T (p.Lys407Met) c.1118A>T (p.Lys373Met) c.1082A>T (p.Lys361Met) c.923A>T (p.Lys308Met) | |
1 | g.173909566T>C | CA343773486 | SERPINC1 | c.1139A>G (p.Lys380Arg) c.560-2073A>G (n.560-2073A>G) c.995A>G (p.Lys332Arg) c.1262A>G (p.Lys421Arg) c.1220A>G (p.Lys407Arg) c.1118A>G (p.Lys373Arg) c.1082A>G (p.Lys361Arg) c.923A>G (p.Lys308Arg) | |
1 | g.173909566T>G | CA343773487 | SERPINC1 | c.1139A>C (p.Lys380Thr) c.560-2073A>C (n.560-2073A>C) c.995A>C (p.Lys332Thr) c.1262A>C (p.Lys421Thr) c.1220A>C (p.Lys407Thr) c.1118A>C (p.Lys373Thr) c.1082A>C (p.Lys361Thr) c.923A>C (p.Lys308Thr) | |
1 | g.173909567T>A | CA343773488 | SERPINC1 | c.1138A>T (p.Lys380Ter) c.560-2074A>T (n.560-2074A>T) c.994A>T (p.Lys332Ter) c.1261A>T (p.Lys421Ter) c.1219A>T (p.Lys407Ter) c.1117A>T (p.Lys373Ter) c.1081A>T (p.Lys361Ter) c.922A>T (p.Lys308Ter) | |
1 | g.173909567T>C | CA343773489 | SERPINC1 | c.1138A>G (p.Lys380Glu) c.560-2074A>G (n.560-2074A>G) c.994A>G (p.Lys332Glu) c.1261A>G (p.Lys421Glu) c.1219A>G (p.Lys407Glu) c.1117A>G (p.Lys373Glu) c.1081A>G (p.Lys361Glu) c.922A>G (p.Lys308Glu) | |
1 | g.173909567T>G | CA343773490 | SERPINC1 | c.1138A>C (p.Lys380Gln) c.560-2074A>C (n.560-2074A>C) c.994A>C (p.Lys332Gln) c.1261A>C (p.Lys421Gln) c.1219A>C (p.Lys407Gln) c.1117A>C (p.Lys373Gln) c.1081A>C (p.Lys361Gln) c.922A>C (p.Lys308Gln) | |
1 | g.173909568T>A | CA343773491 | SERPINC1 | c.1137A>T (p.Glu379Asp) c.560-2075A>T (n.560-2075A>T) c.993A>T (p.Glu331Asp) c.1260A>T (p.Glu420Asp) c.1218A>T (p.Glu406Asp) c.1116A>T (p.Glu372Asp) c.1080A>T (p.Glu360Asp) c.921A>T (p.Glu307Asp) | |
1 | g.173909568T>C | CA1251277 | SERPINC1 | c.1137A>G (p.Glu379=) c.560-2075A>G (n.560-2075A>G) c.993A>G (p.Glu331=) c.1260A>G (p.Glu420=) c.1218A>G (p.Glu406=) c.1116A>G (p.Glu372=) c.1080A>G (p.Glu360=) c.921A>G (p.Glu307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909568T>G | CA343773492 | SERPINC1 | c.1137A>C (p.Glu379Asp) c.560-2075A>C (n.560-2075A>C) c.993A>C (p.Glu331Asp) c.1260A>C (p.Glu420Asp) c.1218A>C (p.Glu406Asp) c.1116A>C (p.Glu372Asp) c.1080A>C (p.Glu360Asp) c.921A>C (p.Glu307Asp) | |
1 | g.173909568T= | CA1148245798 | SERPINC1 | c.1137A= (p.Glu379=) c.560-2075A= (n.560-2075A=) c.993A= (p.Glu331=) c.1260A= (p.Glu420=) c.1218A= (p.Glu406=) c.1116A= (p.Glu372=) c.1080A= (p.Glu360=) c.921A= (p.Glu307=) | |
1 | g.173909569T>A | CA343773494 | SERPINC1 | c.1136A>T (p.Glu379Val) c.560-2076A>T (n.560-2076A>T) c.992A>T (p.Glu331Val) c.1259A>T (p.Glu420Val) c.1217A>T (p.Glu406Val) c.1115A>T (p.Glu372Val) c.1079A>T (p.Glu360Val) c.920A>T (p.Glu307Val) | |
1 | g.173909569T>C | CA343773495 | SERPINC1 | c.1136A>G (p.Glu379Gly) c.560-2076A>G (n.560-2076A>G) c.992A>G (p.Glu331Gly) c.1259A>G (p.Glu420Gly) c.1217A>G (p.Glu406Gly) c.1115A>G (p.Glu372Gly) c.1079A>G (p.Glu360Gly) c.920A>G (p.Glu307Gly) | |
1 | g.173909569T>G | CA343773493 | SERPINC1 | c.1136A>C (p.Glu379Ala) c.560-2076A>C (n.560-2076A>C) c.992A>C (p.Glu331Ala) c.1259A>C (p.Glu420Ala) c.1217A>C (p.Glu406Ala) c.1115A>C (p.Glu372Ala) c.1079A>C (p.Glu360Ala) c.920A>C (p.Glu307Ala) | |
1 | g.173909570C>A | CA343773496 | SERPINC1 | c.1135G>T (p.Glu379Ter) c.560-2077G>T (n.560-2077G>T) c.991G>T (p.Glu331Ter) c.1258G>T (p.Glu420Ter) c.1216G>T (p.Glu406Ter) c.1114G>T (p.Glu372Ter) c.1078G>T (p.Glu360Ter) c.919G>T (p.Glu307Ter) | |
1 | g.173909570C= | CA1207936898 | SERPINC1 | c.1135G= (p.Glu379=) c.560-2077G= (n.560-2077G=) c.991G= (p.Glu331=) c.1258G= (p.Glu420=) c.1216G= (p.Glu406=) c.1114G= (p.Glu372=) c.1078G= (p.Glu360=) c.919G= (p.Glu307=) | |
1 | g.173909570C>G | CA343773497 | SERPINC1 | c.1135G>C (p.Glu379Gln) c.560-2077G>C (n.560-2077G>C) c.991G>C (p.Glu331Gln) c.1258G>C (p.Glu420Gln) c.1216G>C (p.Glu406Gln) c.1114G>C (p.Glu372Gln) c.1078G>C (p.Glu360Gln) c.919G>C (p.Glu307Gln) | dbSNP |
1 | g.173909570C>T | CA343773498 | SERPINC1 | c.1135G>A (p.Glu379Lys) c.560-2077G>A (n.560-2077G>A) c.991G>A (p.Glu331Lys) c.1258G>A (p.Glu420Lys) c.1216G>A (p.Glu406Lys) c.1114G>A (p.Glu372Lys) c.1078G>A (p.Glu360Lys) c.919G>A (p.Glu307Lys) | |
1 | g.173909571A= | CA1207936899 | SERPINC1 | c.1134T= (p.Pro378=) c.560-2078T= (n.560-2078T=) c.990T= (p.Pro330=) c.1257T= (p.Pro419=) c.1215T= (p.Pro405=) c.1113T= (p.Pro371=) c.1077T= (p.Pro359=) c.918T= (p.Pro306=) | |
1 | g.173909571A>C | CA32780206 | SERPINC1 | c.1134T>G (p.Pro378=) c.560-2078T>G (n.560-2078T>G) c.990T>G (p.Pro330=) c.1257T>G (p.Pro419=) c.1215T>G (p.Pro405=) c.1113T>G (p.Pro371=) c.1077T>G (p.Pro359=) c.918T>G (p.Pro306=) | dbSNP |
1 | g.173909571A>G | CA421942789 | SERPINC1 | c.1134T>C (p.Pro378=) c.560-2078T>C (n.560-2078T>C) c.990T>C (p.Pro330=) c.1257T>C (p.Pro419=) c.1215T>C (p.Pro405=) c.1113T>C (p.Pro371=) c.1077T>C (p.Pro359=) c.918T>C (p.Pro306=) | dbSNP |
1 | g.173909571A>T | CA421942790 | SERPINC1 | c.1134T>A (p.Pro378=) c.560-2078T>A (n.560-2078T>A) c.990T>A (p.Pro330=) c.1257T>A (p.Pro419=) c.1215T>A (p.Pro405=) c.1113T>A (p.Pro371=) c.1077T>A (p.Pro359=) c.918T>A (p.Pro306=) | |
1 | g.173909572G>A | CA343773499 | SERPINC1 | c.1133C>T (p.Pro378Leu) c.560-2079C>T (n.560-2079C>T) c.989C>T (p.Pro330Leu) c.1256C>T (p.Pro419Leu) c.1214C>T (p.Pro405Leu) c.1112C>T (p.Pro371Leu) c.1076C>T (p.Pro359Leu) c.917C>T (p.Pro306Leu) | |
1 | g.173909572G>C | CA343773500 | SERPINC1 | c.1133C>G (p.Pro378Arg) c.560-2079C>G (n.560-2079C>G) c.989C>G (p.Pro330Arg) c.1256C>G (p.Pro419Arg) c.1214C>G (p.Pro405Arg) c.1112C>G (p.Pro371Arg) c.1076C>G (p.Pro359Arg) c.917C>G (p.Pro306Arg) | |
1 | g.173909572G>T | CA343773501 | SERPINC1 | c.1133C>A (p.Pro378His) c.560-2079C>A (n.560-2079C>A) c.989C>A (p.Pro330His) c.1256C>A (p.Pro419His) c.1214C>A (p.Pro405His) c.1112C>A (p.Pro371His) c.1076C>A (p.Pro359His) c.917C>A (p.Pro306His) | |
1 | g.173909573G>A | CA343773504 | SERPINC1 | c.1132C>T (p.Pro378Ser) c.560-2080C>T (n.560-2080C>T) c.988C>T (p.Pro330Ser) c.1255C>T (p.Pro419Ser) c.1213C>T (p.Pro405Ser) c.1111C>T (p.Pro371Ser) c.1075C>T (p.Pro359Ser) c.916C>T (p.Pro306Ser) | |
1 | g.173909573G>C | CA343773502 | SERPINC1 | c.1132C>G (p.Pro378Ala) c.560-2080C>G (n.560-2080C>G) c.988C>G (p.Pro330Ala) c.1255C>G (p.Pro419Ala) c.1213C>G (p.Pro405Ala) c.1111C>G (p.Pro371Ala) c.1075C>G (p.Pro359Ala) c.916C>G (p.Pro306Ala) | |
1 | g.173909573G>T | CA343773503 | SERPINC1 | c.1132C>A (p.Pro378Thr) c.560-2080C>A (n.560-2080C>A) c.988C>A (p.Pro330Thr) c.1255C>A (p.Pro419Thr) c.1213C>A (p.Pro405Thr) c.1111C>A (p.Pro371Thr) c.1075C>A (p.Pro359Thr) c.916C>A (p.Pro306Thr) | gnomAD v4 |
1 | g.173909574G>A | CA421942792 | SERPINC1 | c.1131C>T (p.Ser377=) c.560-2081C>T (n.560-2081C>T) c.987C>T (p.Ser329=) c.1254C>T (p.Ser418=) c.1212C>T (p.Ser404=) c.1110C>T (p.Ser370=) c.1074C>T (p.Ser358=) c.915C>T (p.Ser305=) | |
1 | g.173909574G>C | CA343773505 | SERPINC1 | c.1131C>G (p.Ser377Arg) c.560-2081C>G (n.560-2081C>G) c.987C>G (p.Ser329Arg) c.1254C>G (p.Ser418Arg) c.1212C>G (p.Ser404Arg) c.1110C>G (p.Ser370Arg) c.1074C>G (p.Ser358Arg) c.915C>G (p.Ser305Arg) | |
1 | g.173909574G>T | CA343773506 | SERPINC1 | c.1131C>A (p.Ser377Arg) c.560-2081C>A (n.560-2081C>A) c.987C>A (p.Ser329Arg) c.1254C>A (p.Ser418Arg) c.1212C>A (p.Ser404Arg) c.1110C>A (p.Ser370Arg) c.1074C>A (p.Ser358Arg) c.915C>A (p.Ser305Arg) | gnomAD v4 |
1 | g.173909575C>A | CA343773507 | SERPINC1 | c.1130G>T (p.Ser377Ile) c.560-2082G>T (n.560-2082G>T) c.986G>T (p.Ser329Ile) c.1253G>T (p.Ser418Ile) c.1211G>T (p.Ser404Ile) c.1109G>T (p.Ser370Ile) c.1073G>T (p.Ser358Ile) c.914G>T (p.Ser305Ile) | |
1 | g.173909575C>G | CA343773508 | SERPINC1 | c.1130G>C (p.Ser377Thr) c.560-2082G>C (n.560-2082G>C) c.986G>C (p.Ser329Thr) c.1253G>C (p.Ser418Thr) c.1211G>C (p.Ser404Thr) c.1109G>C (p.Ser370Thr) c.1073G>C (p.Ser358Thr) c.914G>C (p.Ser305Thr) | |
1 | g.173909575C>T | CA343773509 | SERPINC1 | c.1130G>A (p.Ser377Asn) c.560-2082G>A (n.560-2082G>A) c.986G>A (p.Ser329Asn) c.1253G>A (p.Ser418Asn) c.1211G>A (p.Ser404Asn) c.1109G>A (p.Ser370Asn) c.1073G>A (p.Ser358Asn) c.914G>A (p.Ser305Asn) | gnomAD v4 |
1 | g.173909576T>A | CA343773510 | SERPINC1 | c.1129A>T (p.Ser377Cys) c.560-2083A>T (n.560-2083A>T) c.985A>T (p.Ser329Cys) c.1252A>T (p.Ser418Cys) c.1210A>T (p.Ser404Cys) c.1108A>T (p.Ser370Cys) c.1072A>T (p.Ser358Cys) c.913A>T (p.Ser305Cys) | |
1 | g.173909576T>C | CA343773512 | SERPINC1 | c.1129A>G (p.Ser377Gly) c.560-2083A>G (n.560-2083A>G) c.985A>G (p.Ser329Gly) c.1252A>G (p.Ser418Gly) c.1210A>G (p.Ser404Gly) c.1108A>G (p.Ser370Gly) c.1072A>G (p.Ser358Gly) c.913A>G (p.Ser305Gly) | gnomAD v4 |
1 | g.173909576T>G | CA343773511 | SERPINC1 | c.1129A>C (p.Ser377Arg) c.560-2083A>C (n.560-2083A>C) c.985A>C (p.Ser329Arg) c.1252A>C (p.Ser418Arg) c.1210A>C (p.Ser404Arg) c.1108A>C (p.Ser370Arg) c.1072A>C (p.Ser358Arg) c.913A>C (p.Ser305Arg) | |
1 | g.173909577G>A | CA421942794 | SERPINC1 | c.1128C>T (p.Phe376=) c.560-2084C>T (n.560-2084C>T) c.984C>T (p.Phe328=) c.1251C>T (p.Phe417=) c.1209C>T (p.Phe403=) c.1107C>T (p.Phe369=) c.1071C>T (p.Phe357=) c.912C>T (p.Phe304=) | gnomAD v4 |
1 | g.173909577G>C | CA343773513 | SERPINC1 | c.1128C>G (p.Phe376Leu) c.560-2084C>G (n.560-2084C>G) c.984C>G (p.Phe328Leu) c.1251C>G (p.Phe417Leu) c.1209C>G (p.Phe403Leu) c.1107C>G (p.Phe369Leu) c.1071C>G (p.Phe357Leu) c.912C>G (p.Phe304Leu) | |
1 | g.173909577G>T | CA343773514 | SERPINC1 | c.1128C>A (p.Phe376Leu) c.560-2084C>A (n.560-2084C>A) c.984C>A (p.Phe328Leu) c.1251C>A (p.Phe417Leu) c.1209C>A (p.Phe403Leu) c.1107C>A (p.Phe369Leu) c.1071C>A (p.Phe357Leu) c.912C>A (p.Phe304Leu) | |
1 | g.173909578A>C | CA343773515 | SERPINC1 | c.1127T>G (p.Phe376Cys) c.560-2085T>G (n.560-2085T>G) c.983T>G (p.Phe328Cys) c.1250T>G (p.Phe417Cys) c.1208T>G (p.Phe403Cys) c.1106T>G (p.Phe369Cys) c.1070T>G (p.Phe357Cys) c.911T>G (p.Phe304Cys) | |
1 | g.173909578A>G | CA343773516 | SERPINC1 | c.1127T>C (p.Phe376Ser) c.560-2085T>C (n.560-2085T>C) c.983T>C (p.Phe328Ser) c.1250T>C (p.Phe417Ser) c.1208T>C (p.Phe403Ser) c.1106T>C (p.Phe369Ser) c.1070T>C (p.Phe357Ser) c.911T>C (p.Phe304Ser) | |
1 | g.173909578A>T | CA343773517 | SERPINC1 | c.1127T>A (p.Phe376Tyr) c.560-2085T>A (n.560-2085T>A) c.983T>A (p.Phe328Tyr) c.1250T>A (p.Phe417Tyr) c.1208T>A (p.Phe403Tyr) c.1106T>A (p.Phe369Tyr) c.1070T>A (p.Phe357Tyr) c.911T>A (p.Phe304Tyr) | |
1 | g.173909579A>C | CA343773518 | SERPINC1 | c.1126T>G (p.Phe376Val) c.560-2086T>G (n.560-2086T>G) c.982T>G (p.Phe328Val) c.1249T>G (p.Phe417Val) c.1207T>G (p.Phe403Val) c.1105T>G (p.Phe369Val) c.1069T>G (p.Phe357Val) c.910T>G (p.Phe304Val) | |
1 | g.173909579A>G | CA343773519 | SERPINC1 | c.1126T>C (p.Phe376Leu) c.560-2086T>C (n.560-2086T>C) c.982T>C (p.Phe328Leu) c.1249T>C (p.Phe417Leu) c.1207T>C (p.Phe403Leu) c.1105T>C (p.Phe369Leu) c.1069T>C (p.Phe357Leu) c.910T>C (p.Phe304Leu) | gnomAD v4 |
1 | g.173909579A>T | CA343773520 | SERPINC1 | c.1126T>A (p.Phe376Ile) c.560-2086T>A (n.560-2086T>A) c.982T>A (p.Phe328Ile) c.1249T>A (p.Phe417Ile) c.1207T>A (p.Phe403Ile) c.1105T>A (p.Phe369Ile) c.1069T>A (p.Phe357Ile) c.910T>A (p.Phe304Ile) | |
1 | g.173909580C>A | CA421942795 | SERPINC1 | c.1125G>T (p.Leu375=) c.560-2087G>T (n.560-2087G>T) c.981G>T (p.Leu327=) c.1248G>T (p.Leu416=) c.1206G>T (p.Leu402=) c.1104G>T (p.Leu368=) c.1068G>T (p.Leu356=) c.909G>T (p.Leu303=) | gnomAD v4 |
1 | g.173909580C>G | CA421942797 | SERPINC1 | c.1125G>C (p.Leu375=) c.560-2087G>C (n.560-2087G>C) c.981G>C (p.Leu327=) c.1248G>C (p.Leu416=) c.1206G>C (p.Leu402=) c.1104G>C (p.Leu368=) c.1068G>C (p.Leu356=) c.909G>C (p.Leu303=) | |
1 | g.173909580C>T | CA421942796 | SERPINC1 | c.1125G>A (p.Leu375=) c.560-2087G>A (n.560-2087G>A) c.981G>A (p.Leu327=) c.1248G>A (p.Leu416=) c.1206G>A (p.Leu402=) c.1104G>A (p.Leu368=) c.1068G>A (p.Leu356=) c.909G>A (p.Leu303=) | |
1 | g.173909581A>C | CA343773521 | SERPINC1 | c.1124T>G (p.Leu375Arg) c.560-2088T>G (n.560-2088T>G) c.980T>G (p.Leu327Arg) c.1247T>G (p.Leu416Arg) c.1205T>G (p.Leu402Arg) c.1103T>G (p.Leu368Arg) c.1067T>G (p.Leu356Arg) c.908T>G (p.Leu303Arg) | |
1 | g.173909581A>G | CA343773522 | SERPINC1 | c.1124T>C (p.Leu375Pro) c.560-2088T>C (n.560-2088T>C) c.980T>C (p.Leu327Pro) c.1247T>C (p.Leu416Pro) c.1205T>C (p.Leu402Pro) c.1103T>C (p.Leu368Pro) c.1067T>C (p.Leu356Pro) c.908T>C (p.Leu303Pro) | |
1 | g.173909581A>T | CA343773523 | SERPINC1 | c.1124T>A (p.Leu375Gln) c.560-2088T>A (n.560-2088T>A) c.980T>A (p.Leu327Gln) c.1247T>A (p.Leu416Gln) c.1205T>A (p.Leu402Gln) c.1103T>A (p.Leu368Gln) c.1067T>A (p.Leu356Gln) c.908T>A (p.Leu303Gln) | |
1 | g.173909582G>A | CA421942802 | SERPINC1 | c.1123C>T (p.Leu375=) c.560-2089C>T (n.560-2089C>T) c.979C>T (p.Leu327=) c.1246C>T (p.Leu416=) c.1204C>T (p.Leu402=) c.1102C>T (p.Leu368=) c.1066C>T (p.Leu356=) c.907C>T (p.Leu303=) | |
1 | g.173909582G>C | CA343773524 | SERPINC1 | c.1123C>G (p.Leu375Val) c.560-2089C>G (n.560-2089C>G) c.979C>G (p.Leu327Val) c.1246C>G (p.Leu416Val) c.1204C>G (p.Leu402Val) c.1102C>G (p.Leu368Val) c.1066C>G (p.Leu356Val) c.907C>G (p.Leu303Val) | |
1 | g.173909582G= | CA1142276446 | SERPINC1 | c.1123C= (p.Leu375=) c.560-2089C= (n.560-2089C=) c.979C= (p.Leu327=) c.1246C= (p.Leu416=) c.1204C= (p.Leu402=) c.1102C= (p.Leu368=) c.1066C= (p.Leu356=) c.907C= (p.Leu303=) | |
1 | g.173909582G>T | CA1251278 | SERPINC1 | c.1123C>A (p.Leu375Met) c.560-2089C>A (n.560-2089C>A) c.979C>A (p.Leu327Met) c.1246C>A (p.Leu416Met) c.1204C>A (p.Leu402Met) c.1102C>A (p.Leu368Met) c.1066C>A (p.Leu356Met) c.907C>A (p.Leu303Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909583A>C | CA343773526 | SERPINC1 | c.1122T>G (p.Asp374Glu) c.560-2090T>G (n.560-2090T>G) c.978T>G (p.Asp326Glu) c.1245T>G (p.Asp415Glu) c.1203T>G (p.Asp401Glu) c.1101T>G (p.Asp367Glu) c.1065T>G (p.Asp355Glu) c.906T>G (p.Asp302Glu) | |
1 | g.173909583A>G | CA421942803 | SERPINC1 | c.1122T>C (p.Asp374=) c.560-2090T>C (n.560-2090T>C) c.978T>C (p.Asp326=) c.1245T>C (p.Asp415=) c.1203T>C (p.Asp401=) c.1101T>C (p.Asp367=) c.1065T>C (p.Asp355=) c.906T>C (p.Asp302=) | |
1 | g.173909583A>T | CA343773525 | SERPINC1 | c.1122T>A (p.Asp374Glu) c.560-2090T>A (n.560-2090T>A) c.978T>A (p.Asp326Glu) c.1245T>A (p.Asp415Glu) c.1203T>A (p.Asp401Glu) c.1101T>A (p.Asp367Glu) c.1065T>A (p.Asp355Glu) c.906T>A (p.Asp302Glu) | |
1 | g.173909584T>A | CA343773527 | SERPINC1 | c.1121A>T (p.Asp374Val) c.560-2091A>T (n.560-2091A>T) c.977A>T (p.Asp326Val) c.1244A>T (p.Asp415Val) c.1202A>T (p.Asp401Val) c.1100A>T (p.Asp367Val) c.1064A>T (p.Asp355Val) c.905A>T (p.Asp302Val) | |
1 | g.173909584T>C | CA343773529 | SERPINC1 | c.1121A>G (p.Asp374Gly) c.560-2091A>G (n.560-2091A>G) c.977A>G (p.Asp326Gly) c.1244A>G (p.Asp415Gly) c.1202A>G (p.Asp401Gly) c.1100A>G (p.Asp367Gly) c.1064A>G (p.Asp355Gly) c.905A>G (p.Asp302Gly) | ClinVar gnomAD v4 |
1 | g.173909584T>G | CA343773528 | SERPINC1 | c.1121A>C (p.Asp374Ala) c.560-2091A>C (n.560-2091A>C) c.977A>C (p.Asp326Ala) c.1244A>C (p.Asp415Ala) c.1202A>C (p.Asp401Ala) c.1100A>C (p.Asp367Ala) c.1064A>C (p.Asp355Ala) c.905A>C (p.Asp302Ala) | |
1 | g.173909585C>A | CA343773530 | SERPINC1 | c.1120G>T (p.Asp374Tyr) c.560-2092G>T (n.560-2092G>T) c.976G>T (p.Asp326Tyr) c.1243G>T (p.Asp415Tyr) c.1201G>T (p.Asp401Tyr) c.1099G>T (p.Asp367Tyr) c.1063G>T (p.Asp355Tyr) c.904G>T (p.Asp302Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909585C= | CA1207936900 | SERPINC1 | c.1120G= (p.Asp374=) c.560-2092G= (n.560-2092G=) c.976G= (p.Asp326=) c.1243G= (p.Asp415=) c.1201G= (p.Asp401=) c.1099G= (p.Asp367=) c.1063G= (p.Asp355=) c.904G= (p.Asp302=) | |
1 | g.173909585C>G | CA343773531 | SERPINC1 | c.1120G>C (p.Asp374His) c.560-2092G>C (n.560-2092G>C) c.976G>C (p.Asp326His) c.1243G>C (p.Asp415His) c.1201G>C (p.Asp401His) c.1099G>C (p.Asp367His) c.1063G>C (p.Asp355His) c.904G>C (p.Asp302His) | |
1 | g.173909585C>T | CA1251279 | SERPINC1 | c.1120G>A (p.Asp374Asn) c.560-2092G>A (n.560-2092G>A) c.976G>A (p.Asp326Asn) c.1243G>A (p.Asp415Asn) c.1201G>A (p.Asp401Asn) c.1099G>A (p.Asp367Asn) c.1063G>A (p.Asp355Asn) c.904G>A (p.Asp302Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909586G>A | CA421942805 | SERPINC1 | c.1119C>T (p.Val373=) c.560-2093C>T (n.560-2093C>T) c.975C>T (p.Val325=) c.1242C>T (p.Val414=) c.1200C>T (p.Val400=) c.1098C>T (p.Val366=) c.1062C>T (p.Val354=) c.903C>T (p.Val301=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909586G>C | CA421942806 | SERPINC1 | c.1119C>G (p.Val373=) c.560-2093C>G (n.560-2093C>G) c.975C>G (p.Val325=) c.1242C>G (p.Val414=) c.1200C>G (p.Val400=) c.1098C>G (p.Val366=) c.1062C>G (p.Val354=) c.903C>G (p.Val301=) | |
1 | g.173909586G= | CA1207936901 | SERPINC1 | c.1119C= (p.Val373=) c.560-2093C= (n.560-2093C=) c.975C= (p.Val325=) c.1242C= (p.Val414=) c.1200C= (p.Val400=) c.1098C= (p.Val366=) c.1062C= (p.Val354=) c.903C= (p.Val301=) | |
1 | g.173909586G>T | CA421942807 | SERPINC1 | c.1119C>A (p.Val373=) c.560-2093C>A (n.560-2093C>A) c.975C>A (p.Val325=) c.1242C>A (p.Val414=) c.1200C>A (p.Val400=) c.1098C>A (p.Val366=) c.1062C>A (p.Val354=) c.903C>A (p.Val301=) | |
1 | g.173909587A= | CA1207936902 | SERPINC1 | c.1118T= (p.Val373=) c.560-2094T= (n.560-2094T=) c.974T= (p.Val325=) c.1241T= (p.Val414=) c.1199T= (p.Val400=) c.1097T= (p.Val366=) c.1061T= (p.Val354=) c.902T= (p.Val301=) | |
1 | g.173909587A>C | CA343773532 | SERPINC1 | c.1118T>G (p.Val373Gly) c.560-2094T>G (n.560-2094T>G) c.974T>G (p.Val325Gly) c.1241T>G (p.Val414Gly) c.1199T>G (p.Val400Gly) c.1097T>G (p.Val366Gly) c.1061T>G (p.Val354Gly) c.902T>G (p.Val301Gly) | |
1 | g.173909587A>G | CA343773533 | SERPINC1 | c.1118T>C (p.Val373Ala) c.560-2094T>C (n.560-2094T>C) c.974T>C (p.Val325Ala) c.1241T>C (p.Val414Ala) c.1199T>C (p.Val400Ala) c.1097T>C (p.Val366Ala) c.1061T>C (p.Val354Ala) c.902T>C (p.Val301Ala) | |
1 | g.173909587A>T | CA343773534 | SERPINC1 | c.1118T>A (p.Val373Asp) c.560-2094T>A (n.560-2094T>A) c.974T>A (p.Val325Asp) c.1241T>A (p.Val414Asp) c.1199T>A (p.Val400Asp) c.1097T>A (p.Val366Asp) c.1061T>A (p.Val354Asp) c.902T>A (p.Val301Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909588C>A | CA343773535 | SERPINC1 | c.1117G>T (p.Val373Phe) c.560-2095G>T (n.560-2095G>T) c.973G>T (p.Val325Phe) c.1240G>T (p.Val414Phe) c.1198G>T (p.Val400Phe) c.1096G>T (p.Val366Phe) c.1060G>T (p.Val354Phe) c.901G>T (p.Val301Phe) | |
1 | g.173909588C>G | CA343773536 | SERPINC1 | c.1117G>C (p.Val373Leu) c.560-2095G>C (n.560-2095G>C) c.973G>C (p.Val325Leu) c.1240G>C (p.Val414Leu) c.1198G>C (p.Val400Leu) c.1096G>C (p.Val366Leu) c.1060G>C (p.Val354Leu) c.901G>C (p.Val301Leu) | |
1 | g.173909588C>T | CA343773537 | SERPINC1 | c.1117G>A (p.Val373Ile) c.560-2095G>A (n.560-2095G>A) c.973G>A (p.Val325Ile) c.1240G>A (p.Val414Ile) c.1198G>A (p.Val400Ile) c.1096G>A (p.Val366Ile) c.1060G>A (p.Val354Ile) c.901G>A (p.Val301Ile) | |
1 | g.173909589A>C | CA421942809 | SERPINC1 | c.1116T>G (p.Leu372=) c.560-2096T>G (n.560-2096T>G) c.972T>G (p.Leu324=) c.1239T>G (p.Leu413=) c.1197T>G (p.Leu399=) c.1095T>G (p.Leu365=) c.1059T>G (p.Leu353=) c.900T>G (p.Leu300=) | |
1 | g.173909589A>G | CA421942810 | SERPINC1 | c.1116T>C (p.Leu372=) c.560-2096T>C (n.560-2096T>C) c.972T>C (p.Leu324=) c.1239T>C (p.Leu413=) c.1197T>C (p.Leu399=) c.1095T>C (p.Leu365=) c.1059T>C (p.Leu353=) c.900T>C (p.Leu300=) | gnomAD v4 |
1 | g.173909589A>T | CA421942811 | SERPINC1 | c.1116T>A (p.Leu372=) c.560-2096T>A (n.560-2096T>A) c.972T>A (p.Leu324=) c.1239T>A (p.Leu413=) c.1197T>A (p.Leu399=) c.1095T>A (p.Leu365=) c.1059T>A (p.Leu353=) c.900T>A (p.Leu300=) | |
1 | g.173909590A>C | CA343773538 | SERPINC1 | c.1115T>G (p.Leu372Arg) c.560-2097T>G (n.560-2097T>G) c.971T>G (p.Leu324Arg) c.1238T>G (p.Leu413Arg) c.1196T>G (p.Leu399Arg) c.1094T>G (p.Leu365Arg) c.1058T>G (p.Leu353Arg) c.899T>G (p.Leu300Arg) | |
1 | g.173909590A>G | CA343773539 | SERPINC1 | c.1115T>C (p.Leu372Pro) c.560-2097T>C (n.560-2097T>C) c.971T>C (p.Leu324Pro) c.1238T>C (p.Leu413Pro) c.1196T>C (p.Leu399Pro) c.1094T>C (p.Leu365Pro) c.1058T>C (p.Leu353Pro) c.899T>C (p.Leu300Pro) | |
1 | g.173909590A>T | CA343773540 | SERPINC1 | c.1115T>A (p.Leu372His) c.560-2097T>A (n.560-2097T>A) c.971T>A (p.Leu324His) c.1238T>A (p.Leu413His) c.1196T>A (p.Leu399His) c.1094T>A (p.Leu365His) c.1058T>A (p.Leu353His) c.899T>A (p.Leu300His) | |
1 | g.173909591G>A | CA343773541 | SERPINC1 | c.1114C>T (p.Leu372Phe) c.560-2098C>T (n.560-2098C>T) c.970C>T (p.Leu324Phe) c.1237C>T (p.Leu413Phe) c.1195C>T (p.Leu399Phe) c.1093C>T (p.Leu365Phe) c.1057C>T (p.Leu353Phe) c.898C>T (p.Leu300Phe) | |
1 | g.173909591G>C | CA343773542 | SERPINC1 | c.1114C>G (p.Leu372Val) c.560-2098C>G (n.560-2098C>G) c.970C>G (p.Leu324Val) c.1237C>G (p.Leu413Val) c.1195C>G (p.Leu399Val) c.1093C>G (p.Leu365Val) c.1057C>G (p.Leu353Val) c.898C>G (p.Leu300Val) | |
1 | g.173909591G>T | CA343773543 | SERPINC1 | c.1114C>A (p.Leu372Ile) c.560-2098C>A (n.560-2098C>A) c.970C>A (p.Leu324Ile) c.1237C>A (p.Leu413Ile) c.1195C>A (p.Leu399Ile) c.1093C>A (p.Leu365Ile) c.1057C>A (p.Leu353Ile) c.898C>A (p.Leu300Ile) | |
1 | g.173909592G>A | CA421942815 | SERPINC1 | c.1113C>T (p.Gly371=) c.560-2099C>T (n.560-2099C>T) c.969C>T (p.Gly323=) c.1236C>T (p.Gly412=) c.1194C>T (p.Gly398=) c.1092C>T (p.Gly364=) c.1056C>T (p.Gly352=) c.897C>T (p.Gly299=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909592G>C | CA421942816 | SERPINC1 | c.1113C>G (p.Gly371=) c.560-2099C>G (n.560-2099C>G) c.969C>G (p.Gly323=) c.1236C>G (p.Gly412=) c.1194C>G (p.Gly398=) c.1092C>G (p.Gly364=) c.1056C>G (p.Gly352=) c.897C>G (p.Gly299=) | |
1 | g.173909592G= | CA1207936903 | SERPINC1 | c.1113C= (p.Gly371=) c.560-2099C= (n.560-2099C=) c.969C= (p.Gly323=) c.1236C= (p.Gly412=) c.1194C= (p.Gly398=) c.1092C= (p.Gly364=) c.1056C= (p.Gly352=) c.897C= (p.Gly299=) | |
1 | g.173909592G>T | CA421942817 | SERPINC1 | c.1113C>A (p.Gly371=) c.560-2099C>A (n.560-2099C>A) c.969C>A (p.Gly323=) c.1236C>A (p.Gly412=) c.1194C>A (p.Gly398=) c.1092C>A (p.Gly364=) c.1056C>A (p.Gly352=) c.897C>A (p.Gly299=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909593C>A | CA343773544 | SERPINC1 | c.1112G>T (p.Gly371Val) c.560-2100G>T (n.560-2100G>T) c.968G>T (p.Gly323Val) c.1235G>T (p.Gly412Val) c.1193G>T (p.Gly398Val) c.1091G>T (p.Gly364Val) c.1055G>T (p.Gly352Val) c.896G>T (p.Gly299Val) | |
1 | g.173909593C>G | CA343773546 | SERPINC1 | c.1112G>C (p.Gly371Ala) c.560-2100G>C (n.560-2100G>C) c.968G>C (p.Gly323Ala) c.1235G>C (p.Gly412Ala) c.1193G>C (p.Gly398Ala) c.1091G>C (p.Gly364Ala) c.1055G>C (p.Gly352Ala) c.896G>C (p.Gly299Ala) | |
1 | g.173909593C>T | CA343773545 | SERPINC1 | c.1112G>A (p.Gly371Asp) c.560-2100G>A (n.560-2100G>A) c.968G>A (p.Gly323Asp) c.1235G>A (p.Gly412Asp) c.1193G>A (p.Gly398Asp) c.1091G>A (p.Gly364Asp) c.1055G>A (p.Gly352Asp) c.896G>A (p.Gly299Asp) | |
1 | g.173909594C>A | CA343773547 | SERPINC1 | c.1111G>T (p.Gly371Cys) c.560-2101G>T (n.560-2101G>T) c.967G>T (p.Gly323Cys) c.1234G>T (p.Gly412Cys) c.1192G>T (p.Gly398Cys) c.1090G>T (p.Gly364Cys) c.1054G>T (p.Gly352Cys) c.895G>T (p.Gly299Cys) | |
1 | g.173909594C>G | CA343773548 | SERPINC1 | c.1111G>C (p.Gly371Arg) c.560-2101G>C (n.560-2101G>C) c.967G>C (p.Gly323Arg) c.1234G>C (p.Gly412Arg) c.1192G>C (p.Gly398Arg) c.1090G>C (p.Gly364Arg) c.1054G>C (p.Gly352Arg) c.895G>C (p.Gly299Arg) | |
1 | g.173909594C>T | CA343773549 | SERPINC1 | c.1111G>A (p.Gly371Ser) c.560-2101G>A (n.560-2101G>A) c.967G>A (p.Gly323Ser) c.1234G>A (p.Gly412Ser) c.1192G>A (p.Gly398Ser) c.1090G>A (p.Gly364Ser) c.1054G>A (p.Gly352Ser) c.895G>A (p.Gly299Ser) | |
1 | g.173909595C>A | CA343773550 | SERPINC1 | c.1110G>T (p.Met370Ile) c.560-2102G>T (n.560-2102G>T) c.966G>T (p.Met322Ile) c.1233G>T (p.Met411Ile) c.1191G>T (p.Met397Ile) c.1089G>T (p.Met363Ile) c.1053G>T (p.Met351Ile) c.894G>T (p.Met298Ile) | |
1 | g.173909595C>G | CA343773551 | SERPINC1 | c.1110G>C (p.Met370Ile) c.560-2102G>C (n.560-2102G>C) c.966G>C (p.Met322Ile) c.1233G>C (p.Met411Ile) c.1191G>C (p.Met397Ile) c.1089G>C (p.Met363Ile) c.1053G>C (p.Met351Ile) c.894G>C (p.Met298Ile) | |
1 | g.173909595C>T | CA343773552 | SERPINC1 | c.1110G>A (p.Met370Ile) c.560-2102G>A (n.560-2102G>A) c.966G>A (p.Met322Ile) c.1233G>A (p.Met411Ile) c.1191G>A (p.Met397Ile) c.1089G>A (p.Met363Ile) c.1053G>A (p.Met351Ile) c.894G>A (p.Met298Ile) | ClinVar |
1 | g.173909596A>C | CA343773553 | SERPINC1 | c.1109T>G (p.Met370Arg) c.560-2103T>G (n.560-2103T>G) c.965T>G (p.Met322Arg) c.1232T>G (p.Met411Arg) c.1190T>G (p.Met397Arg) c.1088T>G (p.Met363Arg) c.1052T>G (p.Met351Arg) c.893T>G (p.Met298Arg) | |
1 | g.173909596A>G | CA343773554 | SERPINC1 | c.1109T>C (p.Met370Thr) c.560-2103T>C (n.560-2103T>C) c.965T>C (p.Met322Thr) c.1232T>C (p.Met411Thr) c.1190T>C (p.Met397Thr) c.1088T>C (p.Met363Thr) c.1052T>C (p.Met351Thr) c.893T>C (p.Met298Thr) | ClinVar |
1 | g.173909596A>T | CA343773555 | SERPINC1 | c.1109T>A (p.Met370Lys) c.560-2103T>A (n.560-2103T>A) c.965T>A (p.Met322Lys) c.1232T>A (p.Met411Lys) c.1190T>A (p.Met397Lys) c.1088T>A (p.Met363Lys) c.1052T>A (p.Met351Lys) c.893T>A (p.Met298Lys) | |
1 | g.173909597T>A | CA343773557 | SERPINC1 | c.1108A>T (p.Met370Leu) c.560-2104A>T (n.560-2104A>T) c.964A>T (p.Met322Leu) c.1231A>T (p.Met411Leu) c.1189A>T (p.Met397Leu) c.1087A>T (p.Met363Leu) c.1051A>T (p.Met351Leu) c.892A>T (p.Met298Leu) | |
1 | g.173909597T>C | CA343773558 | SERPINC1 | c.1108A>G (p.Met370Val) c.560-2104A>G (n.560-2104A>G) c.964A>G (p.Met322Val) c.1231A>G (p.Met411Val) c.1189A>G (p.Met397Val) c.1087A>G (p.Met363Val) c.1051A>G (p.Met351Val) c.892A>G (p.Met298Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909597T>G | CA343773556 | SERPINC1 | c.1108A>C (p.Met370Leu) c.560-2104A>C (n.560-2104A>C) c.964A>C (p.Met322Leu) c.1231A>C (p.Met411Leu) c.1189A>C (p.Met397Leu) c.1087A>C (p.Met363Leu) c.1051A>C (p.Met351Leu) c.892A>C (p.Met298Leu) | |
1 | g.173909597T= | CA1207936904 | SERPINC1 | c.1108A= (p.Met370=) c.560-2104A= (n.560-2104A=) c.964A= (p.Met322=) c.1231A= (p.Met411=) c.1189A= (p.Met397=) c.1087A= (p.Met363=) c.1051A= (p.Met351=) c.892A= (p.Met298=) | |
1 | g.173909598G>A | CA421942820 | SERPINC1 | c.1107C>T (p.Asp369=) c.560-2105C>T (n.560-2105C>T) c.963C>T (p.Asp321=) c.1230C>T (p.Asp410=) c.1188C>T (p.Asp396=) c.1086C>T (p.Asp362=) c.1050C>T (p.Asp350=) c.891C>T (p.Asp297=) | |
1 | g.173909598G>C | CA343773559 | SERPINC1 | c.1107C>G (p.Asp369Glu) c.560-2105C>G (n.560-2105C>G) c.963C>G (p.Asp321Glu) c.1230C>G (p.Asp410Glu) c.1188C>G (p.Asp396Glu) c.1086C>G (p.Asp362Glu) c.1050C>G (p.Asp350Glu) c.891C>G (p.Asp297Glu) | |
1 | g.173909598G>T | CA343773560 | SERPINC1 | c.1107C>A (p.Asp369Glu) c.560-2105C>A (n.560-2105C>A) c.963C>A (p.Asp321Glu) c.1230C>A (p.Asp410Glu) c.1188C>A (p.Asp396Glu) c.1086C>A (p.Asp362Glu) c.1050C>A (p.Asp350Glu) c.891C>A (p.Asp297Glu) | COSMIC |
1 | g.173909599T>A | CA343773561 | SERPINC1 | c.1106A>T (p.Asp369Val) c.560-2106A>T (n.560-2106A>T) c.962A>T (p.Asp321Val) c.1229A>T (p.Asp410Val) c.1187A>T (p.Asp396Val) c.1085A>T (p.Asp362Val) c.1049A>T (p.Asp350Val) c.890A>T (p.Asp297Val) | |
1 | g.173909599T>C | CA343773562 | SERPINC1 | c.1106A>G (p.Asp369Gly) c.560-2106A>G (n.560-2106A>G) c.962A>G (p.Asp321Gly) c.1229A>G (p.Asp410Gly) c.1187A>G (p.Asp396Gly) c.1085A>G (p.Asp362Gly) c.1049A>G (p.Asp350Gly) c.890A>G (p.Asp297Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909599T>G | CA343773563 | SERPINC1 | c.1106A>C (p.Asp369Ala) c.560-2106A>C (n.560-2106A>C) c.962A>C (p.Asp321Ala) c.1229A>C (p.Asp410Ala) c.1187A>C (p.Asp396Ala) c.1085A>C (p.Asp362Ala) c.1049A>C (p.Asp350Ala) c.890A>C (p.Asp297Ala) | |
1 | g.173909599T= | CA1207936905 | SERPINC1 | c.1106A= (p.Asp369=) c.560-2106A= (n.560-2106A=) c.962A= (p.Asp321=) c.1229A= (p.Asp410=) c.1187A= (p.Asp396=) c.1085A= (p.Asp362=) c.1049A= (p.Asp350=) c.890A= (p.Asp297=) | |
1 | g.173909600C>A | CA343773564 | SERPINC1 | c.1105G>T (p.Asp369Tyr) c.560-2107G>T (n.560-2107G>T) c.961G>T (p.Asp321Tyr) c.1228G>T (p.Asp410Tyr) c.1186G>T (p.Asp396Tyr) c.1084G>T (p.Asp362Tyr) c.1048G>T (p.Asp350Tyr) c.889G>T (p.Asp297Tyr) | COSMIC |
1 | g.173909600C= | CA1207936906 | SERPINC1 | c.1105G= (p.Asp369=) c.560-2107G= (n.560-2107G=) c.961G= (p.Asp321=) c.1228G= (p.Asp410=) c.1186G= (p.Asp396=) c.1084G= (p.Asp362=) c.1048G= (p.Asp350=) c.889G= (p.Asp297=) | |
1 | g.173909600C>G | CA343773565 | SERPINC1 | c.1105G>C (p.Asp369His) c.560-2107G>C (n.560-2107G>C) c.961G>C (p.Asp321His) c.1228G>C (p.Asp410His) c.1186G>C (p.Asp396His) c.1084G>C (p.Asp362His) c.1048G>C (p.Asp350His) c.889G>C (p.Asp297His) | |
1 | g.173909600C>T | CA1251280 | SERPINC1 | c.1105G>A (p.Asp369Asn) c.560-2107G>A (n.560-2107G>A) c.961G>A (p.Asp321Asn) c.1228G>A (p.Asp410Asn) c.1186G>A (p.Asp396Asn) c.1084G>A (p.Asp362Asn) c.1048G>A (p.Asp350Asn) c.889G>A (p.Asp297Asn) | dbSNP ExAC gnomAD v2 |
1 | g.173909601T>A | CA343773566 | SERPINC1 | c.1104A>T (p.Gln368His) c.560-2108A>T (n.560-2108A>T) c.960A>T (p.Gln320His) c.1227A>T (p.Gln409His) c.1185A>T (p.Gln395His) c.1083A>T (p.Gln361His) c.1047A>T (p.Gln349His) c.888A>T (p.Gln296His) | |
1 | g.173909601T>C | CA421942822 | SERPINC1 | c.1104A>G (p.Gln368=) c.560-2108A>G (n.560-2108A>G) c.960A>G (p.Gln320=) c.1227A>G (p.Gln409=) c.1185A>G (p.Gln395=) c.1083A>G (p.Gln361=) c.1047A>G (p.Gln349=) c.888A>G (p.Gln296=) | |
1 | g.173909601T>G | CA343773567 | SERPINC1 | c.1104A>C (p.Gln368His) c.560-2108A>C (n.560-2108A>C) c.960A>C (p.Gln320His) c.1227A>C (p.Gln409His) c.1185A>C (p.Gln395His) c.1083A>C (p.Gln361His) c.1047A>C (p.Gln349His) c.888A>C (p.Gln296His) | |
1 | g.173909602T>A | CA343773568 | SERPINC1 | c.1103A>T (p.Gln368Leu) c.560-2109A>T (n.560-2109A>T) c.959A>T (p.Gln320Leu) c.1226A>T (p.Gln409Leu) c.1184A>T (p.Gln395Leu) c.1082A>T (p.Gln361Leu) c.1046A>T (p.Gln349Leu) c.887A>T (p.Gln296Leu) | |
1 | g.173909602T>C | CA343773569 | SERPINC1 | c.1103A>G (p.Gln368Arg) c.560-2109A>G (n.560-2109A>G) c.959A>G (p.Gln320Arg) c.1226A>G (p.Gln409Arg) c.1184A>G (p.Gln395Arg) c.1082A>G (p.Gln361Arg) c.1046A>G (p.Gln349Arg) c.887A>G (p.Gln296Arg) | |
1 | g.173909602T>G | CA343773570 | SERPINC1 | c.1103A>C (p.Gln368Pro) c.560-2109A>C (n.560-2109A>C) c.959A>C (p.Gln320Pro) c.1226A>C (p.Gln409Pro) c.1184A>C (p.Gln395Pro) c.1082A>C (p.Gln361Pro) c.1046A>C (p.Gln349Pro) c.887A>C (p.Gln296Pro) | |
1 | g.173909603del | CA2739292067 | SERPINC1 | c.1102del (p.Gln368LysfsTer?) c.560-2110del (n.560-2110del) c.958del (p.Gln320LysfsTer?) c.1225del (p.Gln409LysfsTer?) c.1183del (p.Gln395LysfsTer?) c.1081del (p.Gln361LysfsTer?) c.1045del (p.Gln349LysfsTer?) c.886del (p.Gln296LysfsTer?) | |
1 | g.173909603G>A | CA343773573 | SERPINC1 | c.1102C>T (p.Gln368Ter) c.560-2110C>T (n.560-2110C>T) c.958C>T (p.Gln320Ter) c.1225C>T (p.Gln409Ter) c.1183C>T (p.Gln395Ter) c.1081C>T (p.Gln361Ter) c.1045C>T (p.Gln349Ter) c.886C>T (p.Gln296Ter) | dbSNP |
1 | g.173909603G>C | CA343773572 | SERPINC1 | c.1102C>G (p.Gln368Glu) c.560-2110C>G (n.560-2110C>G) c.958C>G (p.Gln320Glu) c.1225C>G (p.Gln409Glu) c.1183C>G (p.Gln395Glu) c.1081C>G (p.Gln361Glu) c.1045C>G (p.Gln349Glu) c.886C>G (p.Gln296Glu) | gnomAD v4 |
1 | g.173909603G= | CA1207936907 | SERPINC1 | c.1102C= (p.Gln368=) c.560-2110C= (n.560-2110C=) c.958C= (p.Gln320=) c.1225C= (p.Gln409=) c.1183C= (p.Gln395=) c.1081C= (p.Gln361=) c.1045C= (p.Gln349=) c.886C= (p.Gln296=) | |
1 | g.173909603G>T | CA343773571 | SERPINC1 | c.1102C>A (p.Gln368Lys) c.560-2110C>A (n.560-2110C>A) c.958C>A (p.Gln320Lys) c.1225C>A (p.Gln409Lys) c.1183C>A (p.Gln395Lys) c.1081C>A (p.Gln361Lys) c.1045C>A (p.Gln349Lys) c.886C>A (p.Gln296Lys) | |
1 | g.173909604C>A | CA421942825 | SERPINC1 | c.1101G>T (p.Leu367=) c.560-2111G>T (n.560-2111G>T) c.957G>T (p.Leu319=) c.1224G>T (p.Leu408=) c.1182G>T (p.Leu394=) c.1080G>T (p.Leu360=) c.1044G>T (p.Leu348=) c.885G>T (p.Leu295=) | |
1 | g.173909604C= | CA1207936908 | SERPINC1 | c.1101G= (p.Leu367=) c.560-2111G= (n.560-2111G=) c.957G= (p.Leu319=) c.1224G= (p.Leu408=) c.1182G= (p.Leu394=) c.1080G= (p.Leu360=) c.1044G= (p.Leu348=) c.885G= (p.Leu295=) | |
1 | g.173909604C>G | CA421942826 | SERPINC1 | c.1101G>C (p.Leu367=) c.560-2111G>C (n.560-2111G>C) c.957G>C (p.Leu319=) c.1224G>C (p.Leu408=) c.1182G>C (p.Leu394=) c.1080G>C (p.Leu360=) c.1044G>C (p.Leu348=) c.885G>C (p.Leu295=) | dbSNP |
1 | g.173909604C>T | CA421942827 | SERPINC1 | c.1101G>A (p.Leu367=) c.560-2111G>A (n.560-2111G>A) c.957G>A (p.Leu319=) c.1224G>A (p.Leu408=) c.1182G>A (p.Leu394=) c.1080G>A (p.Leu360=) c.1044G>A (p.Leu348=) c.885G>A (p.Leu295=) | |
1 | g.173909605A>C | CA343773574 | SERPINC1 | c.1100T>G (p.Leu367Arg) c.560-2112T>G (n.560-2112T>G) c.956T>G (p.Leu319Arg) c.1223T>G (p.Leu408Arg) c.1181T>G (p.Leu394Arg) c.1079T>G (p.Leu360Arg) c.1043T>G (p.Leu348Arg) c.884T>G (p.Leu295Arg) | |
1 | g.173909605A>G | CA343773575 | SERPINC1 | c.1100T>C (p.Leu367Pro) c.560-2112T>C (n.560-2112T>C) c.956T>C (p.Leu319Pro) c.1223T>C (p.Leu408Pro) c.1181T>C (p.Leu394Pro) c.1079T>C (p.Leu360Pro) c.1043T>C (p.Leu348Pro) c.884T>C (p.Leu295Pro) | |
1 | g.173909605A>T | CA343773576 | SERPINC1 | c.1100T>A (p.Leu367Gln) c.560-2112T>A (n.560-2112T>A) c.956T>A (p.Leu319Gln) c.1223T>A (p.Leu408Gln) c.1181T>A (p.Leu394Gln) c.1079T>A (p.Leu360Gln) c.1043T>A (p.Leu348Gln) c.884T>A (p.Leu295Gln) | |
1 | g.173909606G>A | CA421942828 | SERPINC1 | c.1099C>T (p.Leu367=) c.560-2113C>T (n.560-2113C>T) c.955C>T (p.Leu319=) c.1222C>T (p.Leu408=) c.1180C>T (p.Leu394=) c.1078C>T (p.Leu360=) c.1042C>T (p.Leu348=) c.883C>T (p.Leu295=) | |
1 | g.173909606G>C | CA343773577 | SERPINC1 | c.1099C>G (p.Leu367Val) c.560-2113C>G (n.560-2113C>G) c.955C>G (p.Leu319Val) c.1222C>G (p.Leu408Val) c.1180C>G (p.Leu394Val) c.1078C>G (p.Leu360Val) c.1042C>G (p.Leu348Val) c.883C>G (p.Leu295Val) | ClinVar dbSNP |
1 | g.173909606G= | CA1207936909 | SERPINC1 | c.1099C= (p.Leu367=) c.560-2113C= (n.560-2113C=) c.955C= (p.Leu319=) c.1222C= (p.Leu408=) c.1180C= (p.Leu394=) c.1078C= (p.Leu360=) c.1042C= (p.Leu348=) c.883C= (p.Leu295=) | |
1 | g.173909606G>T | CA343773578 | SERPINC1 | c.1099C>A (p.Leu367Met) c.560-2113C>A (n.560-2113C>A) c.955C>A (p.Leu319Met) c.1222C>A (p.Leu408Met) c.1180C>A (p.Leu394Met) c.1078C>A (p.Leu360Met) c.1042C>A (p.Leu348Met) c.883C>A (p.Leu295Met) | |
1 | g.173909607C>A | CA343773579 | SERPINC1 | c.1098G>T (p.Gln366His) c.560-2114G>T (n.560-2114G>T) c.954G>T (p.Gln318His) c.1221G>T (p.Gln407His) c.1179G>T (p.Gln393His) c.1077G>T (p.Gln359His) c.1041G>T (p.Gln347His) c.882G>T (p.Gln294His) | gnomAD v4 COSMIC |
1 | g.173909607C>G | CA343773580 | SERPINC1 | c.1098G>C (p.Gln366His) c.560-2114G>C (n.560-2114G>C) c.954G>C (p.Gln318His) c.1221G>C (p.Gln407His) c.1179G>C (p.Gln393His) c.1077G>C (p.Gln359His) c.1041G>C (p.Gln347His) c.882G>C (p.Gln294His) | |
1 | g.173909607C>T | CA421942829 | SERPINC1 | c.1098G>A (p.Gln366=) c.560-2114G>A (n.560-2114G>A) c.954G>A (p.Gln318=) c.1221G>A (p.Gln407=) c.1179G>A (p.Gln393=) c.1077G>A (p.Gln359=) c.1041G>A (p.Gln347=) c.882G>A (p.Gln294=) | |
1 | g.173909608T>A | CA343773581 | SERPINC1 | c.1097A>T (p.Gln366Leu) c.560-2115A>T (n.560-2115A>T) c.953A>T (p.Gln318Leu) c.1220A>T (p.Gln407Leu) c.1178A>T (p.Gln393Leu) c.1076A>T (p.Gln359Leu) c.1040A>T (p.Gln347Leu) c.881A>T (p.Gln294Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909608T>C | CA343773582 | SERPINC1 | c.1097A>G (p.Gln366Arg) c.560-2115A>G (n.560-2115A>G) c.953A>G (p.Gln318Arg) c.1220A>G (p.Gln407Arg) c.1178A>G (p.Gln393Arg) c.1076A>G (p.Gln359Arg) c.1040A>G (p.Gln347Arg) c.881A>G (p.Gln294Arg) | |
1 | g.173909608T>G | CA343773583 | SERPINC1 | c.1097A>C (p.Gln366Pro) c.560-2115A>C (n.560-2115A>C) c.953A>C (p.Gln318Pro) c.1220A>C (p.Gln407Pro) c.1178A>C (p.Gln393Pro) c.1076A>C (p.Gln359Pro) c.1040A>C (p.Gln347Pro) c.881A>C (p.Gln294Pro) | |
1 | g.173909608T= | CA1207936910 | SERPINC1 | c.1097A= (p.Gln366=) c.560-2115A= (n.560-2115A=) c.953A= (p.Gln318=) c.1220A= (p.Gln407=) c.1178A= (p.Gln393=) c.1076A= (p.Gln359=) c.1040A= (p.Gln347=) c.881A= (p.Gln294=) | |
1 | g.173909609G>A | CA343773584 | SERPINC1 | c.1096C>T (p.Gln366Ter) c.560-2116C>T (n.560-2116C>T) c.952C>T (p.Gln318Ter) c.1219C>T (p.Gln407Ter) c.1177C>T (p.Gln393Ter) c.1075C>T (p.Gln359Ter) c.1039C>T (p.Gln347Ter) c.880C>T (p.Gln294Ter) | |
1 | g.173909609G>C | CA1251281 | SERPINC1 | c.1096C>G (p.Gln366Glu) c.560-2116C>G (n.560-2116C>G) c.952C>G (p.Gln318Glu) c.1219C>G (p.Gln407Glu) c.1177C>G (p.Gln393Glu) c.1075C>G (p.Gln359Glu) c.1039C>G (p.Gln347Glu) c.880C>G (p.Gln294Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173909609G= | CA1147118571 | SERPINC1 | c.1096C= (p.Gln366=) c.560-2116C= (n.560-2116C=) c.952C= (p.Gln318=) c.1219C= (p.Gln407=) c.1177C= (p.Gln393=) c.1075C= (p.Gln359=) c.1039C= (p.Gln347=) c.880C= (p.Gln294=) | |
1 | g.173909609G>T | CA343773585 | SERPINC1 | c.1096C>A (p.Gln366Lys) c.560-2116C>A (n.560-2116C>A) c.952C>A (p.Gln318Lys) c.1219C>A (p.Gln407Lys) c.1177C>A (p.Gln393Lys) c.1075C>A (p.Gln359Lys) c.1039C>A (p.Gln347Lys) c.880C>A (p.Gln294Lys) | COSMIC |
1 | g.173909610C>A | CA343773586 | SERPINC1 | c.1095G>T (p.Glu365Asp) c.560-2117G>T (n.560-2117G>T) c.951G>T (p.Glu317Asp) c.1218G>T (p.Glu406Asp) c.1176G>T (p.Glu392Asp) c.1074G>T (p.Glu358Asp) c.1038G>T (p.Glu346Asp) c.879G>T (p.Glu293Asp) | gnomAD v4 |
1 | g.173909610C>G | CA343773587 | SERPINC1 | c.1095G>C (p.Glu365Asp) c.560-2117G>C (n.560-2117G>C) c.951G>C (p.Glu317Asp) c.1218G>C (p.Glu406Asp) c.1176G>C (p.Glu392Asp) c.1074G>C (p.Glu358Asp) c.1038G>C (p.Glu346Asp) c.879G>C (p.Glu293Asp) | |
1 | g.173909610C>T | CA421942832 | SERPINC1 | c.1095G>A (p.Glu365=) c.560-2117G>A (n.560-2117G>A) c.951G>A (p.Glu317=) c.1218G>A (p.Glu406=) c.1176G>A (p.Glu392=) c.1074G>A (p.Glu358=) c.1038G>A (p.Glu346=) c.879G>A (p.Glu293=) | COSMIC |
1 | g.173909611T>A | CA343773588 | SERPINC1 | c.1094A>T (p.Glu365Val) c.560-2118A>T (n.560-2118A>T) c.950A>T (p.Glu317Val) c.1217A>T (p.Glu406Val) c.1175A>T (p.Glu392Val) c.1073A>T (p.Glu358Val) c.1037A>T (p.Glu346Val) c.878A>T (p.Glu293Val) | |
1 | g.173909611T>C | CA1251282 | SERPINC1 | c.1094A>G (p.Glu365Gly) c.560-2118A>G (n.560-2118A>G) c.950A>G (p.Glu317Gly) c.1217A>G (p.Glu406Gly) c.1175A>G (p.Glu392Gly) c.1073A>G (p.Glu358Gly) c.1037A>G (p.Glu346Gly) c.878A>G (p.Glu293Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909611T>G | CA343773589 | SERPINC1 | c.1094A>C (p.Glu365Ala) c.560-2118A>C (n.560-2118A>C) c.950A>C (p.Glu317Ala) c.1217A>C (p.Glu406Ala) c.1175A>C (p.Glu392Ala) c.1073A>C (p.Glu358Ala) c.1037A>C (p.Glu346Ala) c.878A>C (p.Glu293Ala) | |
1 | g.173909611T= | CA1207936911 | SERPINC1 | c.1094A= (p.Glu365=) c.560-2118A= (n.560-2118A=) c.950A= (p.Glu317=) c.1217A= (p.Glu406=) c.1175A= (p.Glu392=) c.1073A= (p.Glu358=) c.1037A= (p.Glu346=) c.878A= (p.Glu293=) | |
1 | g.173909612C>A | CA343773590 | SERPINC1 | c.1093G>T (p.Glu365Ter) c.560-2119G>T (n.560-2119G>T) c.949G>T (p.Glu317Ter) c.1216G>T (p.Glu406Ter) c.1174G>T (p.Glu392Ter) c.1072G>T (p.Glu358Ter) c.1036G>T (p.Glu346Ter) c.877G>T (p.Glu293Ter) | |
1 | g.173909612C>G | CA343773591 | SERPINC1 | c.1093G>C (p.Glu365Gln) c.560-2119G>C (n.560-2119G>C) c.949G>C (p.Glu317Gln) c.1216G>C (p.Glu406Gln) c.1174G>C (p.Glu392Gln) c.1072G>C (p.Glu358Gln) c.1036G>C (p.Glu346Gln) c.877G>C (p.Glu293Gln) | gnomAD v4 |
1 | g.173909612C>T | CA343773592 | SERPINC1 | c.1093G>A (p.Glu365Lys) c.560-2119G>A (n.560-2119G>A) c.949G>A (p.Glu317Lys) c.1216G>A (p.Glu406Lys) c.1174G>A (p.Glu392Lys) c.1072G>A (p.Glu358Lys) c.1036G>A (p.Glu346Lys) c.877G>A (p.Glu293Lys) | |
1 | g.173909613C>A | CA343773593 | SERPINC1 | c.1092G>T (p.Lys364Asn) c.560-2120G>T (n.560-2120G>T) c.948G>T (p.Lys316Asn) c.1215G>T (p.Lys405Asn) c.1173G>T (p.Lys391Asn) c.1071G>T (p.Lys357Asn) c.1035G>T (p.Lys345Asn) c.876G>T (p.Lys292Asn) | |
1 | g.173909613C>G | CA343773594 | SERPINC1 | c.1092G>C (p.Lys364Asn) c.560-2120G>C (n.560-2120G>C) c.948G>C (p.Lys316Asn) c.1215G>C (p.Lys405Asn) c.1173G>C (p.Lys391Asn) c.1071G>C (p.Lys357Asn) c.1035G>C (p.Lys345Asn) c.876G>C (p.Lys292Asn) | |
1 | g.173909613C>T | CA421942837 | SERPINC1 | c.1092G>A (p.Lys364=) c.560-2120G>A (n.560-2120G>A) c.948G>A (p.Lys316=) c.1215G>A (p.Lys405=) c.1173G>A (p.Lys391=) c.1071G>A (p.Lys357=) c.1035G>A (p.Lys345=) c.876G>A (p.Lys292=) | |
1 | g.173909614T>A | CA343773595 | SERPINC1 | c.1091A>T (p.Lys364Met) c.560-2121A>T (n.560-2121A>T) c.947A>T (p.Lys316Met) c.1214A>T (p.Lys405Met) c.1172A>T (p.Lys391Met) c.1070A>T (p.Lys357Met) c.1034A>T (p.Lys345Met) c.875A>T (p.Lys292Met) | |
1 | g.173909614T>C | CA343773596 | SERPINC1 | c.1091A>G (p.Lys364Arg) c.560-2121A>G (n.560-2121A>G) c.947A>G (p.Lys316Arg) c.1214A>G (p.Lys405Arg) c.1172A>G (p.Lys391Arg) c.1070A>G (p.Lys357Arg) c.1034A>G (p.Lys345Arg) c.875A>G (p.Lys292Arg) | |
1 | g.173909614T>G | CA343773597 | SERPINC1 | c.1091A>C (p.Lys364Thr) c.560-2121A>C (n.560-2121A>C) c.947A>C (p.Lys316Thr) c.1214A>C (p.Lys405Thr) c.1172A>C (p.Lys391Thr) c.1070A>C (p.Lys357Thr) c.1034A>C (p.Lys345Thr) c.875A>C (p.Lys292Thr) | |
1 | g.173909615T>A | CA343773598 | SERPINC1 | c.1090A>T (p.Lys364Ter) c.560-2122A>T (n.560-2122A>T) c.946A>T (p.Lys316Ter) c.1213A>T (p.Lys405Ter) c.1171A>T (p.Lys391Ter) c.1069A>T (p.Lys357Ter) c.1033A>T (p.Lys345Ter) c.874A>T (p.Lys292Ter) | |
1 | g.173909615T>C | CA343773599 | SERPINC1 | c.1090A>G (p.Lys364Glu) c.560-2122A>G (n.560-2122A>G) c.946A>G (p.Lys316Glu) c.1213A>G (p.Lys405Glu) c.1171A>G (p.Lys391Glu) c.1069A>G (p.Lys357Glu) c.1033A>G (p.Lys345Glu) c.874A>G (p.Lys292Glu) | |
1 | g.173909615T>G | CA343773600 | SERPINC1 | c.1090A>C (p.Lys364Gln) c.560-2122A>C (n.560-2122A>C) c.946A>C (p.Lys316Gln) c.1213A>C (p.Lys405Gln) c.1171A>C (p.Lys391Gln) c.1069A>C (p.Lys357Gln) c.1033A>C (p.Lys345Gln) c.874A>C (p.Lys292Gln) | dbSNP |
1 | g.173909615T= | CA1207936912 | SERPINC1 | c.1090A= (p.Lys364=) c.560-2122A= (n.560-2122A=) c.946A= (p.Lys316=) c.1213A= (p.Lys405=) c.1171A= (p.Lys391=) c.1069A= (p.Lys357=) c.1033A= (p.Lys345=) c.874A= (p.Lys292=) | |
1 | g.173909616C>A | CA343773601 | SERPINC1 | c.1089G>T (p.Leu363Phe) c.560-2123G>T (n.560-2123G>T) c.945G>T (p.Leu315Phe) c.1212G>T (p.Leu404Phe) c.1170G>T (p.Leu390Phe) c.1068G>T (p.Leu356Phe) c.1032G>T (p.Leu344Phe) c.873G>T (p.Leu291Phe) | |
1 | g.173909616C>G | CA343773602 | SERPINC1 | c.1089G>C (p.Leu363Phe) c.560-2123G>C (n.560-2123G>C) c.945G>C (p.Leu315Phe) c.1212G>C (p.Leu404Phe) c.1170G>C (p.Leu390Phe) c.1068G>C (p.Leu356Phe) c.1032G>C (p.Leu344Phe) c.873G>C (p.Leu291Phe) | |
1 | g.173909616C>T | CA421942838 | SERPINC1 | c.1089G>A (p.Leu363=) c.560-2123G>A (n.560-2123G>A) c.945G>A (p.Leu315=) c.1212G>A (p.Leu404=) c.1170G>A (p.Leu390=) c.1068G>A (p.Leu356=) c.1032G>A (p.Leu344=) c.873G>A (p.Leu291=) | |
1 | g.173909617A>C | CA343773603 | SERPINC1 | c.1088T>G (p.Leu363Trp) c.560-2124T>G (n.560-2124T>G) c.944T>G (p.Leu315Trp) c.1211T>G (p.Leu404Trp) c.1169T>G (p.Leu390Trp) c.1067T>G (p.Leu356Trp) c.1031T>G (p.Leu344Trp) c.872T>G (p.Leu291Trp) | |
1 | g.173909617A>G | CA343773605 | SERPINC1 | c.1088T>C (p.Leu363Ser) c.560-2124T>C (n.560-2124T>C) c.944T>C (p.Leu315Ser) c.1211T>C (p.Leu404Ser) c.1169T>C (p.Leu390Ser) c.1067T>C (p.Leu356Ser) c.1031T>C (p.Leu344Ser) c.872T>C (p.Leu291Ser) | |
1 | g.173909617A>T | CA343773604 | SERPINC1 | c.1088T>A (p.Leu363Ter) c.560-2124T>A (n.560-2124T>A) c.944T>A (p.Leu315Ter) c.1211T>A (p.Leu404Ter) c.1169T>A (p.Leu390Ter) c.1067T>A (p.Leu356Ter) c.1031T>A (p.Leu344Ter) c.872T>A (p.Leu291Ter) | |
1 | g.173909618A= | CA1207936913 | SERPINC1 | c.1087T= (p.Leu363=) c.560-2125T= (n.560-2125T=) c.943T= (p.Leu315=) c.1210T= (p.Leu404=) c.1168T= (p.Leu390=) c.1066T= (p.Leu356=) c.1030T= (p.Leu344=) c.871T= (p.Leu291=) | |
1 | g.173909618A>C | CA343773606 | SERPINC1 | c.1087T>G (p.Leu363Val) c.560-2125T>G (n.560-2125T>G) c.943T>G (p.Leu315Val) c.1210T>G (p.Leu404Val) c.1168T>G (p.Leu390Val) c.1066T>G (p.Leu356Val) c.1030T>G (p.Leu344Val) c.871T>G (p.Leu291Val) | |
1 | g.173909618A>G | CA421942839 | SERPINC1 | c.1087T>C (p.Leu363=) c.560-2125T>C (n.560-2125T>C) c.943T>C (p.Leu315=) c.1210T>C (p.Leu404=) c.1168T>C (p.Leu390=) c.1066T>C (p.Leu356=) c.1030T>C (p.Leu344=) c.871T>C (p.Leu291=) | dbSNP |
1 | g.173909618A>T | CA343773607 | SERPINC1 | c.1087T>A (p.Leu363Met) c.560-2125T>A (n.560-2125T>A) c.943T>A (p.Leu315Met) c.1210T>A (p.Leu404Met) c.1168T>A (p.Leu390Met) c.1066T>A (p.Leu356Met) c.1030T>A (p.Leu344Met) c.871T>A (p.Leu291Met) | dbSNP |
1 | g.173909619A>C | CA343773608 | SERPINC1 | c.1086T>G (p.Ser362Arg) c.560-2126T>G (n.560-2126T>G) c.942T>G (p.Ser314Arg) c.1209T>G (p.Ser403Arg) c.1167T>G (p.Ser389Arg) c.1065T>G (p.Ser355Arg) c.1029T>G (p.Ser343Arg) c.870T>G (p.Ser290Arg) | |
1 | g.173909619A>G | CA421942840 | SERPINC1 | c.1086T>C (p.Ser362=) c.560-2126T>C (n.560-2126T>C) c.942T>C (p.Ser314=) c.1209T>C (p.Ser403=) c.1167T>C (p.Ser389=) c.1065T>C (p.Ser355=) c.1029T>C (p.Ser343=) c.870T>C (p.Ser290=) | |
1 | g.173909619A>T | CA343773609 | SERPINC1 | c.1086T>A (p.Ser362Arg) c.560-2126T>A (n.560-2126T>A) c.942T>A (p.Ser314Arg) c.1209T>A (p.Ser403Arg) c.1167T>A (p.Ser389Arg) c.1065T>A (p.Ser355Arg) c.1029T>A (p.Ser343Arg) c.870T>A (p.Ser290Arg) | |
1 | g.173909620C>A | CA1251283 | SERPINC1 | c.1085G>T (p.Ser362Ile) c.560-2127G>T (n.560-2127G>T) c.941G>T (p.Ser314Ile) c.1208G>T (p.Ser403Ile) c.1166G>T (p.Ser389Ile) c.1064G>T (p.Ser355Ile) c.1028G>T (p.Ser343Ile) c.869G>T (p.Ser290Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173909620C= | CA1207936914 | SERPINC1 | c.1085G= (p.Ser362=) c.560-2127G= (n.560-2127G=) c.941G= (p.Ser314=) c.1208G= (p.Ser403=) c.1166G= (p.Ser389=) c.1064G= (p.Ser355=) c.1028G= (p.Ser343=) c.869G= (p.Ser290=) | |
1 | g.173909620C>G | CA343773610 | SERPINC1 | c.1085G>C (p.Ser362Thr) c.560-2127G>C (n.560-2127G>C) c.941G>C (p.Ser314Thr) c.1208G>C (p.Ser403Thr) c.1166G>C (p.Ser389Thr) c.1064G>C (p.Ser355Thr) c.1028G>C (p.Ser343Thr) c.869G>C (p.Ser290Thr) | |
1 | g.173909620C>T | CA343773611 | SERPINC1 | c.1085G>A (p.Ser362Asn) c.560-2127G>A (n.560-2127G>A) c.941G>A (p.Ser314Asn) c.1208G>A (p.Ser403Asn) c.1166G>A (p.Ser389Asn) c.1064G>A (p.Ser355Asn) c.1028G>A (p.Ser343Asn) c.869G>A (p.Ser290Asn) | gnomAD v4 |
1 | g.173909621T>A | CA343773612 | SERPINC1 | c.1084A>T (p.Ser362Cys) c.560-2128A>T (n.560-2128A>T) c.940A>T (p.Ser314Cys) c.1207A>T (p.Ser403Cys) c.1165A>T (p.Ser389Cys) c.1063A>T (p.Ser355Cys) c.1027A>T (p.Ser343Cys) c.868A>T (p.Ser290Cys) | |
1 | g.173909621T>C | CA343773613 | SERPINC1 | c.1084A>G (p.Ser362Gly) c.560-2128A>G (n.560-2128A>G) c.940A>G (p.Ser314Gly) c.1207A>G (p.Ser403Gly) c.1165A>G (p.Ser389Gly) c.1063A>G (p.Ser355Gly) c.1027A>G (p.Ser343Gly) c.868A>G (p.Ser290Gly) | |
1 | g.173909621T>G | CA343773614 | SERPINC1 | c.1084A>C (p.Ser362Arg) c.560-2128A>C (n.560-2128A>C) c.940A>C (p.Ser314Arg) c.1207A>C (p.Ser403Arg) c.1165A>C (p.Ser389Arg) c.1063A>C (p.Ser355Arg) c.1027A>C (p.Ser343Arg) c.868A>C (p.Ser290Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909621T= | CA1207936916 | SERPINC1 | c.1084A= (p.Ser362=) c.560-2128A= (n.560-2128A=) c.940A= (p.Ser314=) c.1207A= (p.Ser403=) c.1165A= (p.Ser389=) c.1063A= (p.Ser355=) c.1027A= (p.Ser343=) c.868A= (p.Ser290=) | |
1 | g.173909621_173909639delinsTGAAGCCGTCCTCAATGCG | CA1207936915 | SERPINC1 | c.1066_1084delinsCGCATTGAGGACGGCTTCA (p.Arg356=) c.560-2146_560-2128delinsCGCATTGAGGACGGCTTCA (n.560-2146_560-2128delinsCGCATTGAGGACGGCTTCA) c.922_940delinsCGCATTGAGGACGGCTTCA (p.Arg308=) c.1189_1207delinsCGCATTGAGGACGGCTTCA (p.Arg397=) c.1147_1165delinsCGCATTGAGGACGGCTTCA (p.Arg383=) c.1045_1063delinsCGCATTGAGGACGGCTTCA (p.Arg349=) c.1009_1027delinsCGCATTGAGGACGGCTTCA (p.Arg337=) c.850_868delinsCGCATTGAGGACGGCTTCA (p.Arg284=) | |
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.173909622G>A | CA421942841 | SERPINC1 | c.1083C>T (p.Phe361=) c.560-2129C>T (n.560-2129C>T) c.939C>T (p.Phe313=) c.1206C>T (p.Phe402=) c.1164C>T (p.Phe388=) c.1062C>T (p.Phe354=) c.1026C>T (p.Phe342=) c.867C>T (p.Phe289=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173909622G>C | CA343773616 | SERPINC1 | c.1083C>G (p.Phe361Leu) c.560-2129C>G (n.560-2129C>G) c.939C>G (p.Phe313Leu) c.1206C>G (p.Phe402Leu) c.1164C>G (p.Phe388Leu) c.1062C>G (p.Phe354Leu) c.1026C>G (p.Phe342Leu) c.867C>G (p.Phe289Leu) | |
1 | g.173909622G= | CA1207936917 | SERPINC1 | c.1083C= (p.Phe361=) c.560-2129C= (n.560-2129C=) c.939C= (p.Phe313=) c.1206C= (p.Phe402=) c.1164C= (p.Phe388=) c.1062C= (p.Phe354=) c.1026C= (p.Phe342=) c.867C= (p.Phe289=) | |
1 | g.173909622G>T | CA343773615 | SERPINC1 | c.1083C>A (p.Phe361Leu) c.560-2129C>A (n.560-2129C>A) c.939C>A (p.Phe313Leu) c.1206C>A (p.Phe402Leu) c.1164C>A (p.Phe388Leu) c.1062C>A (p.Phe354Leu) c.1026C>A (p.Phe342Leu) c.867C>A (p.Phe289Leu) | |
1 | g.173909622_173909644delinsGAAGCCGTCCTCAATGCGGAAGC | CA1143355583 | SERPINC1 | c.1061_1083delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg354=) c.560-2151_560-2129delinsGCTTCCGCATTGAGGACGGCTTC (n.560-2151_560-2129delinsGCTTCCGCATTGAGGACGGCTTC) c.917_939delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg306=) c.1184_1206delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg395=) c.1142_1164delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg381=) c.1040_1062delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg347=) c.1004_1026delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg335=) c.845_867delinsGCTTCCGCATTGAGGACGGCTTC (p.Arg282=) | |
1 | g.173909627_173909644del | CA32780221 | SERPINC1 | c.1066_1083del (p.Arg356_Phe361del) c.560-2146_560-2129del (n.560-2146_560-2129del) c.922_939del (p.Arg308_Phe313del) c.1189_1206del (p.Arg397_Phe402del) c.1147_1164del (p.Arg383_Phe388del) c.1045_1062del (p.Arg349_Phe354del) c.1009_1026del (p.Arg337_Phe342del) c.850_867del (p.Arg284_Phe289del) | dbSNP |
1 | g.173909623A>C | CA343773617 | SERPINC1 | c.1082T>G (p.Phe361Cys) c.560-2130T>G (n.560-2130T>G) c.938T>G (p.Phe313Cys) c.1205T>G (p.Phe402Cys) c.1163T>G (p.Phe388Cys) c.1061T>G (p.Phe354Cys) c.1025T>G (p.Phe342Cys) c.866T>G (p.Phe289Cys) | |
1 | g.173909623A>G | CA343773618 | SERPINC1 | c.1082T>C (p.Phe361Ser) c.560-2130T>C (n.560-2130T>C) c.938T>C (p.Phe313Ser) c.1205T>C (p.Phe402Ser) c.1163T>C (p.Phe388Ser) c.1061T>C (p.Phe354Ser) c.1025T>C (p.Phe342Ser) c.866T>C (p.Phe289Ser) | |
1 | g.173909623A>T | CA343773619 | SERPINC1 | c.1082T>A (p.Phe361Tyr) c.560-2130T>A (n.560-2130T>A) c.938T>A (p.Phe313Tyr) c.1205T>A (p.Phe402Tyr) c.1163T>A (p.Phe388Tyr) c.1061T>A (p.Phe354Tyr) c.1025T>A (p.Phe342Tyr) c.866T>A (p.Phe289Tyr) | |
1 | g.173909624A>C | CA343773620 | SERPINC1 | c.1081T>G (p.Phe361Val) c.560-2131T>G (n.560-2131T>G) c.937T>G (p.Phe313Val) c.1204T>G (p.Phe402Val) c.1162T>G (p.Phe388Val) c.1060T>G (p.Phe354Val) c.1024T>G (p.Phe342Val) c.865T>G (p.Phe289Val) | |
1 | g.173909624A>G | CA343773621 | SERPINC1 | c.1081T>C (p.Phe361Leu) c.560-2131T>C (n.560-2131T>C) c.937T>C (p.Phe313Leu) c.1204T>C (p.Phe402Leu) c.1162T>C (p.Phe388Leu) c.1060T>C (p.Phe354Leu) c.1024T>C (p.Phe342Leu) c.865T>C (p.Phe289Leu) | gnomAD v4 |
1 | g.173909624A>T | CA343773622 | SERPINC1 | c.1081T>A (p.Phe361Ile) c.560-2131T>A (n.560-2131T>A) c.937T>A (p.Phe313Ile) c.1204T>A (p.Phe402Ile) c.1162T>A (p.Phe388Ile) c.1060T>A (p.Phe354Ile) c.1024T>A (p.Phe342Ile) c.865T>A (p.Phe289Ile) | |
1 | g.173909625G>A | CA421942845 | SERPINC1 | c.1080C>T (p.Gly360=) c.560-2132C>T (n.560-2132C>T) c.936C>T (p.Gly312=) c.1203C>T (p.Gly401=) c.1161C>T (p.Gly387=) c.1059C>T (p.Gly353=) c.1023C>T (p.Gly341=) c.864C>T (p.Gly288=) | gnomAD v4 |
1 | g.173909625G>C | CA421942846 | SERPINC1 | c.1080C>G (p.Gly360=) c.560-2132C>G (n.560-2132C>G) c.936C>G (p.Gly312=) c.1203C>G (p.Gly401=) c.1161C>G (p.Gly387=) c.1059C>G (p.Gly353=) c.1023C>G (p.Gly341=) c.864C>G (p.Gly288=) | |
1 | g.173909625G>T | CA421942847 | SERPINC1 | c.1080C>A (p.Gly360=) c.560-2132C>A (n.560-2132C>A) c.936C>A (p.Gly312=) c.1203C>A (p.Gly401=) c.1161C>A (p.Gly387=) c.1059C>A (p.Gly353=) c.1023C>A (p.Gly341=) c.864C>A (p.Gly288=) | |
1 | g.173909626C>A | CA343773623 | SERPINC1 | c.1079G>T (p.Gly360Val) c.560-2133G>T (n.560-2133G>T) c.935G>T (p.Gly312Val) c.1202G>T (p.Gly401Val) c.1160G>T (p.Gly387Val) c.1058G>T (p.Gly353Val) c.1022G>T (p.Gly341Val) c.863G>T (p.Gly288Val) | |
1 | g.173909626C= | CA1207936918 | SERPINC1 | c.1079G= (p.Gly360=) c.560-2133G= (n.560-2133G=) c.935G= (p.Gly312=) c.1202G= (p.Gly401=) c.1160G= (p.Gly387=) c.1058G= (p.Gly353=) c.1022G= (p.Gly341=) c.863G= (p.Gly288=) | |
1 | g.173909626C>G | CA343773624 | SERPINC1 | c.1079G>C (p.Gly360Ala) c.560-2133G>C (n.560-2133G>C) c.935G>C (p.Gly312Ala) c.1202G>C (p.Gly401Ala) c.1160G>C (p.Gly387Ala) c.1058G>C (p.Gly353Ala) c.1022G>C (p.Gly341Ala) c.863G>C (p.Gly288Ala) | |
1 | g.173909626C>T | CA343773625 | SERPINC1 | c.1079G>A (p.Gly360Asp) c.560-2133G>A (n.560-2133G>A) c.935G>A (p.Gly312Asp) c.1202G>A (p.Gly401Asp) c.1160G>A (p.Gly387Asp) c.1058G>A (p.Gly353Asp) c.1022G>A (p.Gly341Asp) c.863G>A (p.Gly288Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.173909627del | CA2580060334 | SERPINC1 | c.1079del (p.Gly360AlafsTer4) c.560-2133del (n.560-2133del) c.935del (p.Gly312AlafsTer4) c.1202del (p.Gly401AlafsTer4) c.1160del (p.Gly387AlafsTer4) c.1058del (p.Gly353AlafsTer4) c.1022del (p.Gly341AlafsTer4) c.863del (p.Gly288AlafsTer4) | |
1 | g.173909627C>A | CA343773626 | SERPINC1 | c.1078G>T (p.Gly360Cys) c.560-2134G>T (n.560-2134G>T) c.934G>T (p.Gly312Cys) c.1201G>T (p.Gly401Cys) c.1159G>T (p.Gly387Cys) c.1057G>T (p.Gly353Cys) c.1021G>T (p.Gly341Cys) c.862G>T (p.Gly288Cys) | |
1 | g.173909627C= | CA1207936919 | SERPINC1 | c.1078G= (p.Gly360=) c.560-2134G= (n.560-2134G=) c.934G= (p.Gly312=) c.1201G= (p.Gly401=) c.1159G= (p.Gly387=) c.1057G= (p.Gly353=) c.1021G= (p.Gly341=) c.862G= (p.Gly288=) | |
1 | g.173909627C>G | CA343773627 | SERPINC1 | c.1078G>C (p.Gly360Arg) c.560-2134G>C (n.560-2134G>C) c.934G>C (p.Gly312Arg) c.1201G>C (p.Gly401Arg) c.1159G>C (p.Gly387Arg) c.1057G>C (p.Gly353Arg) c.1021G>C (p.Gly341Arg) c.862G>C (p.Gly288Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173909627C>T | CA1251284 | SERPINC1 | c.1078G>A (p.Gly360Ser) c.560-2134G>A (n.560-2134G>A) c.934G>A (p.Gly312Ser) c.1201G>A (p.Gly401Ser) c.1159G>A (p.Gly387Ser) c.1057G>A (p.Gly353Ser) c.1021G>A (p.Gly341Ser) c.862G>A (p.Gly288Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909628G>A | CA1251285 | SERPINC1 | c.1077C>T (p.Asp359=) c.560-2135C>T (n.560-2135C>T) c.933C>T (p.Asp311=) c.1200C>T (p.Asp400=) c.1158C>T (p.Asp386=) c.1056C>T (p.Asp352=) c.1020C>T (p.Asp340=) c.861C>T (p.Asp287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173909628G>C | CA343773629 | SERPINC1 | c.1077C>G (p.Asp359Glu) c.560-2135C>G (n.560-2135C>G) c.933C>G (p.Asp311Glu) c.1200C>G (p.Asp400Glu) c.1158C>G (p.Asp386Glu) c.1056C>G (p.Asp352Glu) c.1020C>G (p.Asp340Glu) c.861C>G (p.Asp287Glu) | |
1 | g.173909628G= | CA1207936920 | SERPINC1 | c.1077C= (p.Asp359=) c.560-2135C= (n.560-2135C=) c.933C= (p.Asp311=) c.1200C= (p.Asp400=) c.1158C= (p.Asp386=) c.1056C= (p.Asp352=) c.1020C= (p.Asp340=) c.861C= (p.Asp287=) | |
1 | g.173909628G>T | CA343773628 | SERPINC1 | c.1077C>A (p.Asp359Glu) c.560-2135C>A (n.560-2135C>A) c.933C>A (p.Asp311Glu) c.1200C>A (p.Asp400Glu) c.1158C>A (p.Asp386Glu) c.1056C>A (p.Asp352Glu) c.1020C>A (p.Asp340Glu) c.861C>A (p.Asp287Glu) | |
1 | g.173909629T>A | CA343773630 | SERPINC1 | c.1076A>T (p.Asp359Val) c.560-2136A>T (n.560-2136A>T) c.932A>T (p.Asp311Val) c.1199A>T (p.Asp400Val) c.1157A>T (p.Asp386Val) c.1055A>T (p.Asp352Val) c.1019A>T (p.Asp340Val) c.860A>T (p.Asp287Val) | |
1 | g.173909629T>C | CA343773631 | SERPINC1 | c.1076A>G (p.Asp359Gly) c.560-2136A>G (n.560-2136A>G) c.932A>G (p.Asp311Gly) c.1199A>G (p.Asp400Gly) c.1157A>G (p.Asp386Gly) c.1055A>G (p.Asp352Gly) c.1019A>G (p.Asp340Gly) c.860A>G (p.Asp287Gly) | |
1 | g.173909629T>G | CA343773632 | SERPINC1 | c.1076A>C (p.Asp359Ala) c.560-2136A>C (n.560-2136A>C) c.932A>C (p.Asp311Ala) c.1199A>C (p.Asp400Ala) c.1157A>C (p.Asp386Ala) c.1055A>C (p.Asp352Ala) c.1019A>C (p.Asp340Ala) c.860A>C (p.Asp287Ala) | |
1 | g.173909630C>A | CA343773633 | SERPINC1 | c.1075G>T (p.Asp359Tyr) c.560-2137G>T (n.560-2137G>T) c.931G>T (p.Asp311Tyr) c.1198G>T (p.Asp400Tyr) c.1156G>T (p.Asp386Tyr) c.1054G>T (p.Asp352Tyr) c.1018G>T (p.Asp340Tyr) c.859G>T (p.Asp287Tyr) | |
1 | g.173909630C>G | CA343773634 | SERPINC1 | c.1075G>C (p.Asp359His) c.560-2137G>C (n.560-2137G>C) c.931G>C (p.Asp311His) c.1198G>C (p.Asp400His) c.1156G>C (p.Asp386His) c.1054G>C (p.Asp352His) c.1018G>C (p.Asp340His) c.859G>C (p.Asp287His) | |
1 | g.173909630C>T | CA343773635 | SERPINC1 | c.1075G>A (p.Asp359Asn) c.560-2137G>A (n.560-2137G>A) c.931G>A (p.Asp311Asn) c.1198G>A (p.Asp400Asn) c.1156G>A (p.Asp386Asn) c.1054G>A (p.Asp352Asn) c.1018G>A (p.Asp340Asn) c.859G>A (p.Asp287Asn) | |
1 | g.173909631C>A | CA343773636 | SERPINC1 | c.1074G>T (p.Glu358Asp) c.560-2138G>T (n.560-2138G>T) c.930G>T (p.Glu310Asp) c.1197G>T (p.Glu399Asp) c.1155G>T (p.Glu385Asp) c.1053G>T (p.Glu351Asp) c.1017G>T (p.Glu339Asp) c.858G>T (p.Glu286Asp) | |
1 | g.173909631C= | CA1207936921 | SERPINC1 | c.1074G= (p.Glu358=) c.560-2138G= (n.560-2138G=) c.930G= (p.Glu310=) c.1197G= (p.Glu399=) c.1155G= (p.Glu385=) c.1053G= (p.Glu351=) c.1017G= (p.Glu339=) c.858G= (p.Glu286=) | |
1 | g.173909631C>G | CA343773637 | SERPINC1 | c.1074G>C (p.Glu358Asp) c.560-2138G>C (n.560-2138G>C) c.930G>C (p.Glu310Asp) c.1197G>C (p.Glu399Asp) c.1155G>C (p.Glu385Asp) c.1053G>C (p.Glu351Asp) c.1017G>C (p.Glu339Asp) c.858G>C (p.Glu286Asp) | |
1 | g.173909631C>T | CA421942855 | SERPINC1 | c.1074G>A (p.Glu358=) c.560-2138G>A (n.560-2138G>A) c.930G>A (p.Glu310=) c.1197G>A (p.Glu399=) c.1155G>A (p.Glu385=) c.1053G>A (p.Glu351=) c.1017G>A (p.Glu339=) c.858G>A (p.Glu286=) | dbSNP gnomAD v3 gnomAD v4 |