UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173909622_173910322del | CA2573051420 | SERPINC1 | c.763-379_1084del c.559+1543_560-2128del (n.559+1543_560-2128del) c.619-379_940del c.885+310_1207del c.844-379_1165del c.742-379_1063del c.762+433_1027del c.547-379_868del | ClinVar dbSNP |
| 1 | g.173909784_173909888del | CA2586964406 | SERPINC1 | c.817_921del (p.Lys273_Lys307del) n.468_572del c.559+1976_559+2080del (n.559+1976_559+2080del) c.673_777del (p.Lys225_Lys259del) c.940_1044del (p.Lys314_Lys348del) c.898_1002del (p.Lys300_Lys334del) c.796_900del (p.Lys266_Lys300del) c.763-3_864del c.601_705del (p.Lys201_Lys235del) | |
| 1 | g.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 |