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.173911379_173915115del | CA2573051422 | SERPINC1 | c.42-196_624+420del c.42-196_559+485del c.-201_480+420del c.123-196_705+420del c.42-196_409-488del | |
| 1 | g.173911749_173917428del | CA1139655524 | ClinVar | ||
| 1 | g.173912151_173919034dup | CA2580611212 | |||
| 1 | g.173912552_173914879del | CA2573051423 | SERPINC1 | c.84_409-536del n.310_635-536del c.-61_265-536del c.165_490-536del c.84_409-1659del | ClinVar |
| 1 | g.173914581C>A | CA343777289 | SERPINC1 | c.380G>T (p.Cys127Phe) n.85G>T n.606G>T c.236G>T (p.Cys79Phe) c.461G>T (p.Cys154Phe) | |
| 1 | g.173914581C= | CA1207938924 | SERPINC1 | c.380G= (p.Cys127=) n.85G= n.606G= c.236G= (p.Cys79=) c.461G= (p.Cys154=) | |
| 1 | g.173914581C>G | CA343777290 | SERPINC1 | c.380G>C (p.Cys127Ser) n.85G>C n.606G>C c.236G>C (p.Cys79Ser) c.461G>C (p.Cys154Ser) | |
| 1 | g.173914581C>T | CA343777291 | SERPINC1 | c.380G>A (p.Cys127Tyr) n.85G>A n.606G>A c.236G>A (p.Cys79Tyr) c.461G>A (p.Cys154Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914582A= | CA1141581229 | SERPINC1 | c.379T= (p.Cys127=) n.84T= n.605T= c.235T= (p.Cys79=) c.460T= (p.Cys154=) | |
| 1 | g.173914582A>C | CA343777294 | SERPINC1 | c.379T>G (p.Cys127Gly) n.84T>G n.605T>G c.235T>G (p.Cys79Gly) c.460T>G (p.Cys154Gly) | |
| 1 | g.173914582A>G | CA210802 | SERPINC1 | c.379T>C (p.Cys127Arg) n.84T>C n.605T>C c.235T>C (p.Cys79Arg) c.460T>C (p.Cys154Arg) | ClinVar dbSNP |
| 1 | g.173914582A>T | CA343777292 | SERPINC1 | c.379T>A (p.Cys127Ser) n.84T>A n.605T>A c.235T>A (p.Cys79Ser) c.460T>A (p.Cys154Ser) | |
| 1 | g.173914583G>A | CA421823376 | SERPINC1 | c.378C>T (p.Ala126=) n.83C>T n.604C>T c.234C>T (p.Ala78=) c.459C>T (p.Ala153=) | |
| 1 | g.173914583G>C | CA421823375 | SERPINC1 | c.378C>G (p.Ala126=) n.83C>G n.604C>G c.234C>G (p.Ala78=) c.459C>G (p.Ala153=) | |
| 1 | g.173914583G>T | CA421823373 | SERPINC1 | c.378C>A (p.Ala126=) n.83C>A n.604C>A c.234C>A (p.Ala78=) c.459C>A (p.Ala153=) | |
| 1 | g.173914584G>A | CA343777296 | SERPINC1 | c.377C>T (p.Ala126Val) n.82C>T n.603C>T c.233C>T (p.Ala78Val) c.458C>T (p.Ala153Val) | |
| 1 | g.173914584G>C | CA343777298 | SERPINC1 | c.377C>G (p.Ala126Gly) n.82C>G n.603C>G c.233C>G (p.Ala78Gly) c.458C>G (p.Ala153Gly) | |
| 1 | g.173914584G>T | CA343777299 | SERPINC1 | c.377C>A (p.Ala126Asp) n.82C>A n.603C>A c.233C>A (p.Ala78Asp) c.458C>A (p.Ala153Asp) | |
| 1 | g.173914586_173914592del | CA645537737 | SERPINC1 | c.371_377del (p.Leu124ProfsTer9) n.76_82del n.597_603del c.227_233del (p.Leu76ProfsTer9) c.452_458del (p.Leu151ProfsTer9) | COSMIC |
| 1 | g.173914585C>A | CA343777301 | SERPINC1 | c.376G>T (p.Ala126Ser) n.81G>T n.602G>T c.232G>T (p.Ala78Ser) c.457G>T (p.Ala153Ser) | |
| 1 | g.173914585C>G | CA343777303 | SERPINC1 | c.376G>C (p.Ala126Pro) n.81G>C n.602G>C c.232G>C (p.Ala78Pro) c.457G>C (p.Ala153Pro) | |
| 1 | g.173914585C>T | CA343777305 | SERPINC1 | c.376G>A (p.Ala126Thr) n.81G>A n.602G>A c.232G>A (p.Ala78Thr) c.457G>A (p.Ala153Thr) | |
| 1 | g.173914586A>C | CA421823380 | SERPINC1 | c.375T>G (p.Gly125=) n.80T>G n.601T>G c.231T>G (p.Gly77=) c.456T>G (p.Gly152=) | |
| 1 | g.173914586A>G | CA421823379 | SERPINC1 | c.375T>C (p.Gly125=) n.80T>C n.601T>C c.231T>C (p.Gly77=) c.456T>C (p.Gly152=) | gnomAD v4 |
| 1 | g.173914586A>T | CA421823378 | SERPINC1 | c.375T>A (p.Gly125=) n.80T>A n.601T>A c.231T>A (p.Gly77=) c.456T>A (p.Gly152=) | |
| 1 | g.173914587C>A | CA343777307 | SERPINC1 | c.374G>T (p.Gly125Val) n.79G>T n.600G>T c.230G>T (p.Gly77Val) c.455G>T (p.Gly152Val) | |
| 1 | g.173914587C>G | CA343777311 | SERPINC1 | c.374G>C (p.Gly125Ala) n.79G>C n.600G>C c.230G>C (p.Gly77Ala) c.455G>C (p.Gly152Ala) | |
| 1 | g.173914587C>T | CA343777309 | SERPINC1 | c.374G>A (p.Gly125Asp) n.79G>A n.600G>A c.230G>A (p.Gly77Asp) c.455G>A (p.Gly152Asp) | ClinVar gnomAD v4 |
| 1 | g.173914588C>A | CA343777312 | SERPINC1 | c.373G>T (p.Gly125Cys) n.78G>T n.599G>T c.229G>T (p.Gly77Cys) c.454G>T (p.Gly152Cys) | ClinVar |
| 1 | g.173914588C>G | CA343777314 | SERPINC1 | c.373G>C (p.Gly125Arg) n.78G>C n.599G>C c.229G>C (p.Gly77Arg) c.454G>C (p.Gly152Arg) | |
| 1 | g.173914588C>T | CA343777316 | SERPINC1 | c.373G>A (p.Gly125Ser) n.78G>A n.599G>A c.229G>A (p.Gly77Ser) c.454G>A (p.Gly152Ser) | |
| 1 | g.173914589C>A | CA421823382 | SERPINC1 | c.372G>T (p.Leu124=) n.77G>T n.598G>T c.228G>T (p.Leu76=) c.453G>T (p.Leu151=) | gnomAD v4 |
| 1 | g.173914589C>G | CA421823384 | SERPINC1 | c.372G>C (p.Leu124=) n.77G>C n.598G>C c.228G>C (p.Leu76=) c.453G>C (p.Leu151=) | |
| 1 | g.173914589C>T | CA421823383 | SERPINC1 | c.372G>A (p.Leu124=) n.77G>A n.598G>A c.228G>A (p.Leu76=) c.453G>A (p.Leu151=) | gnomAD v4 |
| 1 | g.173914590A>C | CA343777317 | SERPINC1 | c.371T>G (p.Leu124Arg) n.76T>G n.597T>G c.227T>G (p.Leu76Arg) c.452T>G (p.Leu151Arg) | |
| 1 | g.173914590A>G | CA343777319 | SERPINC1 | c.371T>C (p.Leu124Pro) n.76T>C n.597T>C c.227T>C (p.Leu76Pro) c.452T>C (p.Leu151Pro) | |
| 1 | g.173914590A>T | CA343777321 | SERPINC1 | c.371T>A (p.Leu124Gln) n.76T>A n.597T>A c.227T>A (p.Leu76Gln) c.452T>A (p.Leu151Gln) | |
| 1 | g.173914591G>A | CA1251433 | SERPINC1 | c.370C>T (p.Leu124=) n.75C>T n.596C>T c.226C>T (p.Leu76=) c.451C>T (p.Leu151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914591G>C | CA343777324 | SERPINC1 | c.370C>G (p.Leu124Val) n.75C>G n.596C>G c.226C>G (p.Leu76Val) c.451C>G (p.Leu151Val) | |
| 1 | g.173914591G= | CA1207938925 | SERPINC1 | c.370C= (p.Leu124=) n.75C= n.596C= c.226C= (p.Leu76=) c.451C= (p.Leu151=) | |
| 1 | g.173914591G>T | CA343777325 | SERPINC1 | c.370C>A (p.Leu124Met) n.75C>A n.596C>A c.226C>A (p.Leu76Met) c.451C>A (p.Leu151Met) | |
| 1 | g.173914592C>A | CA343777327 | SERPINC1 | c.369G>T (p.Lys123Asn) n.74G>T n.595G>T c.225G>T (p.Lys75Asn) c.450G>T (p.Lys150Asn) | |
| 1 | g.173914592C= | CA1207938926 | SERPINC1 | c.369G= (p.Lys123=) n.74G= n.595G= c.225G= (p.Lys75=) c.450G= (p.Lys150=) | |
| 1 | g.173914592C>G | CA343777329 | SERPINC1 | c.369G>C (p.Lys123Asn) n.74G>C n.595G>C c.225G>C (p.Lys75Asn) c.450G>C (p.Lys150Asn) | dbSNP |
| 1 | g.173914592C>T | CA421823386 | SERPINC1 | c.369G>A (p.Lys123=) n.74G>A n.595G>A c.225G>A (p.Lys75=) c.450G>A (p.Lys150=) | |
| 1 | g.173914593T>A | CA343777331 | SERPINC1 | c.368A>T (p.Lys123Met) n.73A>T n.594A>T c.224A>T (p.Lys75Met) c.449A>T (p.Lys150Met) | |
| 1 | g.173914593T>C | CA343777334 | SERPINC1 | c.368A>G (p.Lys123Arg) n.73A>G n.594A>G c.224A>G (p.Lys75Arg) c.449A>G (p.Lys150Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914593T>G | CA343777332 | SERPINC1 | c.368A>C (p.Lys123Thr) n.73A>C n.594A>C c.224A>C (p.Lys75Thr) c.449A>C (p.Lys150Thr) | |
| 1 | g.173914593T= | CA1207938927 | SERPINC1 | c.368A= (p.Lys123=) n.73A= n.594A= c.224A= (p.Lys75=) c.449A= (p.Lys150=) |