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 |
|---|---|---|---|---|---|
| 11 | g.75568778T>A | CA381891212 | SERPINH1 | c.670T>A (p.Phe224Ile) c.19T>A (p.Phe7Ile) | |
| 11 | g.75568778T>C | CA381891214 | SERPINH1 | c.670T>C (p.Phe224Leu) c.19T>C (p.Phe7Leu) | |
| 11 | g.75568778T>G | CA381891213 | SERPINH1 | c.670T>G (p.Phe224Val) c.19T>G (p.Phe7Val) | |
| 11 | g.75568779T>A | CA381891215 | SERPINH1 | c.671T>A (p.Phe224Tyr) c.20T>A (p.Phe7Tyr) | |
| 11 | g.75568779T>C | CA381891216 | SERPINH1 | c.671T>C (p.Phe224Ser) c.20T>C (p.Phe7Ser) | |
| 11 | g.75568779T>G | CA381891217 | SERPINH1 | c.671T>G (p.Phe224Cys) c.20T>G (p.Phe7Cys) | |
| 11 | g.75568780C>A | CA381891218 | SERPINH1 | c.672C>A (p.Phe224Leu) c.21C>A (p.Phe7Leu) | |
| 11 | g.75568780C= | CA1983388673 | SERPINH1 | c.672C= (p.Phe224=) c.21C= (p.Phe7=) | |
| 11 | g.75568780C>G | CA381891220 | SERPINH1 | c.672C>G (p.Phe224Leu) c.21C>G (p.Phe7Leu) | |
| 11 | g.75568780C>T | CA475721243 | SERPINH1 | c.672C>T (p.Phe224=) c.21C>T (p.Phe7=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568781A= | CA1983388674 | SERPINH1 | c.673A= (p.Met225=) c.22A= (p.Met8=) | |
| 11 | g.75568781A>C | CA381891221 | SERPINH1 | c.673A>C (p.Met225Leu) c.22A>C (p.Met8Leu) | |
| 11 | g.75568781A>G | CA224683806 | SERPINH1 | c.673A>G (p.Met225Val) c.22A>G (p.Met8Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568781A>T | CA381891222 | SERPINH1 | c.673A>T (p.Met225Leu) c.22A>T (p.Met8Leu) | |
| 11 | g.75568782T>A | CA381891224 | SERPINH1 | c.674T>A (p.Met225Lys) c.23T>A (p.Met8Lys) | |
| 11 | g.75568782T>C | CA381891226 | SERPINH1 | c.674T>C (p.Met225Thr) c.23T>C (p.Met8Thr) | |
| 11 | g.75568782T>G | CA381891227 | SERPINH1 | c.674T>G (p.Met225Arg) c.23T>G (p.Met8Arg) | |
| 11 | g.75568783G>A | CA381891228 | SERPINH1 | c.675G>A (p.Met225Ile) c.24G>A (p.Met8Ile) | |
| 11 | g.75568783G>C | CA381891232 | SERPINH1 | c.675G>C (p.Met225Ile) c.24G>C (p.Met8Ile) | |
| 11 | g.75568783G>T | CA381891230 | SERPINH1 | c.675G>T (p.Met225Ile) c.24G>T (p.Met8Ile) | |
| 11 | g.75568784G>A | CA381891234 | SERPINH1 | c.676G>A (p.Val226Met) c.25G>A (p.Val9Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568784G>C | CA381891236 | SERPINH1 | c.676G>C (p.Val226Leu) c.25G>C (p.Val9Leu) | |
| 11 | g.75568784G= | CA1983388675 | SERPINH1 | c.676G= (p.Val226=) c.25G= (p.Val9=) | |
| 11 | g.75568784G>T | CA381891235 | SERPINH1 | c.676G>T (p.Val226Leu) c.25G>T (p.Val9Leu) | |
| 11 | g.75568785T>A | CA381891237 | SERPINH1 | c.677T>A (p.Val226Glu) c.26T>A (p.Val9Glu) | |
| 11 | g.75568785T>C | CA381891241 | SERPINH1 | c.677T>C (p.Val226Ala) c.26T>C (p.Val9Ala) | |
| 11 | g.75568785T>G | CA381891239 | SERPINH1 | c.677T>G (p.Val226Gly) c.26T>G (p.Val9Gly) | |
| 11 | g.75568786G>A | CA6190887 | SERPINH1 | c.678G>A (p.Val226=) c.27G>A (p.Val9=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568786G>C | CA475721244 | SERPINH1 | c.678G>C (p.Val226=) c.27G>C (p.Val9=) | |
| 11 | g.75568786G= | CA1983388676 | SERPINH1 | c.678G= (p.Val226=) c.27G= (p.Val9=) | |
| 11 | g.75568786G>T | CA475721245 | SERPINH1 | c.678G>T (p.Val226=) c.27G>T (p.Val9=) | |
| 11 | g.75568787A= | CA1983388677 | SERPINH1 | c.679A= (p.Thr227=) c.28A= (p.Thr10=) | |
| 11 | g.75568787A>C | CA381891243 | SERPINH1 | c.679A>C (p.Thr227Pro) c.28A>C (p.Thr10Pro) | |
| 11 | g.75568787A>G | CA381891245 | SERPINH1 | c.679A>G (p.Thr227Ala) c.28A>G (p.Thr10Ala) | |
| 11 | g.75568787A>T | CA381891246 | SERPINH1 | c.679A>T (p.Thr227Ser) c.28A>T (p.Thr10Ser) | dbSNP gnomAD v4 |
| 11 | g.75568788C>A | CA381891248 | SERPINH1 | c.680C>A (p.Thr227Asn) c.29C>A (p.Thr10Asn) | |
| 11 | g.75568788C= | CA1983388678 | SERPINH1 | c.680C= (p.Thr227=) c.29C= (p.Thr10=) | |
| 11 | g.75568788C>G | CA381891249 | SERPINH1 | c.680C>G (p.Thr227Ser) c.29C>G (p.Thr10Ser) | |
| 11 | g.75568788C>T | CA381891250 | SERPINH1 | c.680C>T (p.Thr227Ile) c.29C>T (p.Thr10Ile) | dbSNP gnomAD v4 |
| 11 | g.75568789T>A | CA475721246 | SERPINH1 | c.681T>A (p.Thr227=) c.30T>A (p.Thr10=) | |
| 11 | g.75568789T>C | CA475721247 | SERPINH1 | c.681T>C (p.Thr227=) c.30T>C (p.Thr10=) | dbSNP |
| 11 | g.75568789T>G | CA475721248 | SERPINH1 | c.681T>G (p.Thr227=) c.30T>G (p.Thr10=) | |
| 11 | g.75568789T= | CA1983388679 | SERPINH1 | c.681T= (p.Thr227=) c.30T= (p.Thr10=) | |
| 11 | g.75568790C>A | CA475721249 | SERPINH1 | c.682C>A (p.Arg228=) c.31C>A (p.Arg11=) | |
| 11 | g.75568790C>G | CA381891254 | SERPINH1 | c.682C>G (p.Arg228Gly) c.31C>G (p.Arg11Gly) | gnomAD v4 |
| 11 | g.75568790C>T | CA381891252 | SERPINH1 | c.682C>T (p.Arg228Trp) c.31C>T (p.Arg11Trp) | COSMIC |
| 11 | g.75568791G>A | CA6190888 | SERPINH1 | c.683G>A (p.Arg228Gln) c.32G>A (p.Arg11Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568791G>C | CA381891256 | SERPINH1 | c.683G>C (p.Arg228Pro) c.32G>C (p.Arg11Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568791G= | CA1983388680 | SERPINH1 | c.683G= (p.Arg228=) c.32G= (p.Arg11=) | |
| 11 | g.75568791G>T | CA381891257 | SERPINH1 | c.683G>T (p.Arg228Leu) c.32G>T (p.Arg11Leu) | |
| 11 | g.75568792G>A | CA475721250 | SERPINH1 | c.684G>A (p.Arg228=) c.33G>A (p.Arg11=) | gnomAD v4 |
| 11 | g.75568792G>C | CA475721251 | SERPINH1 | c.684G>C (p.Arg228=) c.33G>C (p.Arg11=) | |
| 11 | g.75568792G>T | CA475721252 | SERPINH1 | c.684G>T (p.Arg228=) c.33G>T (p.Arg11=) | |
| 11 | g.75568793T>A | CA381891258 | SERPINH1 | c.685T>A (p.Ser229Thr) c.34T>A (p.Ser12Thr) | |
| 11 | g.75568793T>C | CA381891260 | SERPINH1 | c.685T>C (p.Ser229Pro) c.34T>C (p.Ser12Pro) | |
| 11 | g.75568793T>G | CA381891262 | SERPINH1 | c.685T>G (p.Ser229Ala) c.34T>G (p.Ser12Ala) | |
| 11 | g.75568794C>A | CA381891263 | SERPINH1 | c.686C>A (p.Ser229Tyr) c.35C>A (p.Ser12Tyr) | |
| 11 | g.75568794C>G | CA381891266 | SERPINH1 | c.686C>G (p.Ser229Cys) c.35C>G (p.Ser12Cys) | |
| 11 | g.75568794C>T | CA381891264 | SERPINH1 | c.686C>T (p.Ser229Phe) c.35C>T (p.Ser12Phe) | gnomAD v4 COSMIC |
| 11 | g.75568795C>A | CA475721253 | SERPINH1 | c.687C>A (p.Ser229=) c.36C>A (p.Ser12=) | gnomAD v4 |
| 11 | g.75568795C>G | CA475721254 | SERPINH1 | c.687C>G (p.Ser229=) c.36C>G (p.Ser12=) | |
| 11 | g.75568795C>T | CA475721255 | SERPINH1 | c.687C>T (p.Ser229=) c.36C>T (p.Ser12=) | gnomAD v4 |
| 11 | g.75568796T>A | CA381891268 | SERPINH1 | c.688T>A (p.Tyr230Asn) c.37T>A (p.Tyr13Asn) | |
| 11 | g.75568796T>C | CA381891272 | SERPINH1 | c.688T>C (p.Tyr230His) c.37T>C (p.Tyr13His) | |
| 11 | g.75568796T>G | CA381891273 | SERPINH1 | c.688T>G (p.Tyr230Asp) c.37T>G (p.Tyr13Asp) | |
| 11 | g.75568797A= | CA1983388681 | SERPINH1 | c.689A= (p.Tyr230=) c.38A= (p.Tyr13=) | |
| 11 | g.75568797A>C | CA381891275 | SERPINH1 | c.689A>C (p.Tyr230Ser) c.38A>C (p.Tyr13Ser) | |
| 11 | g.75568797A>G | CA381891277 | SERPINH1 | c.689A>G (p.Tyr230Cys) c.38A>G (p.Tyr13Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568797A>T | CA381891279 | SERPINH1 | c.689A>T (p.Tyr230Phe) c.38A>T (p.Tyr13Phe) | |
| 11 | g.75568798T>A | CA381891280 | SERPINH1 | c.690T>A (p.Tyr230Ter) c.39T>A (p.Tyr13Ter) | gnomAD v4 |
| 11 | g.75568798T>C | CA224683822 | SERPINH1 | c.690T>C (p.Tyr230=) c.39T>C (p.Tyr13=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568798T>G | CA381891281 | SERPINH1 | c.690T>G (p.Tyr230Ter) c.39T>G (p.Tyr13Ter) | |
| 11 | g.75568798T= | CA1983388682 | SERPINH1 | c.690T= (p.Tyr230=) c.39T= (p.Tyr13=) | |
| 11 | g.75568799A>C | CA381891283 | SERPINH1 | c.691A>C (p.Thr231Pro) c.40A>C (p.Thr14Pro) | |
| 11 | g.75568799A>G | CA381891285 | SERPINH1 | c.691A>G (p.Thr231Ala) c.40A>G (p.Thr14Ala) | |
| 11 | g.75568799A>T | CA381891287 | SERPINH1 | c.691A>T (p.Thr231Ser) c.40A>T (p.Thr14Ser) | |
| 11 | g.75568800C>A | CA381891288 | SERPINH1 | c.692C>A (p.Thr231Asn) c.41C>A (p.Thr14Asn) | gnomAD v4 |
| 11 | g.75568800C= | CA1983388683 | SERPINH1 | c.692C= (p.Thr231=) c.41C= (p.Thr14=) | |
| 11 | g.75568800C>G | CA381891290 | SERPINH1 | c.692C>G (p.Thr231Ser) c.41C>G (p.Thr14Ser) | gnomAD v4 |
| 11 | g.75568800C>T | CA381891289 | SERPINH1 | c.692C>T (p.Thr231Ile) c.41C>T (p.Thr14Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.75568801C>A | CA475721256 | SERPINH1 | c.693C>A (p.Thr231=) c.42C>A (p.Thr14=) | |
| 11 | g.75568801C= | CA1630855235 | SERPINH1 | c.693C= (p.Thr231=) c.42C= (p.Thr14=) | |
| 11 | g.75568801C>G | CA475721257 | SERPINH1 | c.693C>G (p.Thr231=) c.42C>G (p.Thr14=) | gnomAD v3 gnomAD v4 |
| 11 | g.75568801C>T | CA6190889 | SERPINH1 | c.693C>T (p.Thr231=) c.42C>T (p.Thr14=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568802G>A | CA6190890 | SERPINH1 | c.694G>A (p.Val232Met) c.43G>A (p.Val15Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568802G>C | CA381891293 | SERPINH1 | c.694G>C (p.Val232Leu) c.43G>C (p.Val15Leu) | |
| 11 | g.75568802G= | CA1983388684 | SERPINH1 | c.694G= (p.Val232=) c.43G= (p.Val15=) | |
| 11 | g.75568802G>T | CA381891294 | SERPINH1 | c.694G>T (p.Val232Leu) c.43G>T (p.Val15Leu) | |
| 11 | g.75568803T>A | CA381891296 | SERPINH1 | c.695T>A (p.Val232Glu) c.44T>A (p.Val15Glu) | |
| 11 | g.75568803T>C | CA381891298 | SERPINH1 | c.695T>C (p.Val232Ala) c.44T>C (p.Val15Ala) | |
| 11 | g.75568803T>G | CA6190891 | SERPINH1 | c.695T>G (p.Val232Gly) c.44T>G (p.Val15Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568803T= | CA1983388685 | SERPINH1 | c.695T= (p.Val232=) c.44T= (p.Val15=) | |
| 11 | g.75568804G>A | CA475721258 | SERPINH1 | c.696G>A (p.Val232=) c.45G>A (p.Val15=) | |
| 11 | g.75568804G>C | CA475721260 | SERPINH1 | c.696G>C (p.Val232=) c.45G>C (p.Val15=) | gnomAD v4 |
| 11 | g.75568804G>T | CA475721259 | SERPINH1 | c.696G>T (p.Val232=) c.45G>T (p.Val15=) | |
| 11 | g.75568805G>A | CA381891300 | SERPINH1 | c.697G>A (p.Gly233Ser) c.46G>A (p.Gly16Ser) | |
| 11 | g.75568805G>C | CA381891301 | SERPINH1 | c.697G>C (p.Gly233Arg) c.46G>C (p.Gly16Arg) | |
| 11 | g.75568805G>T | CA381891302 | SERPINH1 | c.697G>T (p.Gly233Cys) c.46G>T (p.Gly16Cys) | |
| 11 | g.75568806G>A | CA381891304 | SERPINH1 | c.698G>A (p.Gly233Asp) c.47G>A (p.Gly16Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568806G>C | CA381891306 | SERPINH1 | c.698G>C (p.Gly233Ala) c.47G>C (p.Gly16Ala) | gnomAD v4 |
| 11 | g.75568806G= | CA1983388686 | SERPINH1 | c.698G= (p.Gly233=) c.47G= (p.Gly16=) | |
| 11 | g.75568806G>T | CA381891307 | SERPINH1 | c.698G>T (p.Gly233Val) c.47G>T (p.Gly16Val) | |
| 11 | g.75568807T>A | CA475721261 | SERPINH1 | c.699T>A (p.Gly233=) c.48T>A (p.Gly16=) | |
| 11 | g.75568807T>C | CA475721262 | SERPINH1 | c.699T>C (p.Gly233=) c.48T>C (p.Gly16=) | |
| 11 | g.75568807T>G | CA475721263 | SERPINH1 | c.699T>G (p.Gly233=) c.48T>G (p.Gly16=) | |
| 11 | g.75568808G>A | CA381891308 | SERPINH1 | c.700G>A (p.Val234Ile) c.49G>A (p.Val17Ile) | |
| 11 | g.75568808G>C | CA381891311 | SERPINH1 | c.700G>C (p.Val234Leu) c.49G>C (p.Val17Leu) | |
| 11 | g.75568808G>T | CA381891309 | SERPINH1 | c.700G>T (p.Val234Phe) c.49G>T (p.Val17Phe) | |
| 11 | g.75568808_75568809insGGTGGCTGTGGGCTGTGATTGTGTTTGGGGGCGGCCATGTGTCTCTGACCCTGTGTTT | CA2615177175 | SERPINH1 | c.700_701insGGTGGCTGTGGGCTGTGATTGTGTTTGGGGGCGGCCATGTGTCTCTGACCCTGTGTTT (p.Val234GlyfsTer?) c.49_50insGGTGGCTGTGGGCTGTGATTGTGTTTGGGGGCGGCCATGTGTCTCTGACCCTGTGTTT (p.Val17GlyfsTer?) | gnomAD v4 |
| 11 | g.75568809T>A | CA381891313 | SERPINH1 | c.701T>A (p.Val234Asp) c.50T>A (p.Val17Asp) | |
| 11 | g.75568809T>C | CA381891314 | SERPINH1 | c.701T>C (p.Val234Ala) c.50T>C (p.Val17Ala) | |
| 11 | g.75568809T>G | CA381891315 | SERPINH1 | c.701T>G (p.Val234Gly) c.50T>G (p.Val17Gly) | |
| 11 | g.75568810C>A | CA475721264 | SERPINH1 | c.702C>A (p.Val234=) c.51C>A (p.Val17=) | |
| 11 | g.75568810C>G | CA475721266 | SERPINH1 | c.702C>G (p.Val234=) c.51C>G (p.Val17=) | |
| 11 | g.75568810C>T | CA475721265 | SERPINH1 | c.702C>T (p.Val234=) c.51C>T (p.Val17=) | COSMIC |
| 11 | g.75568811A>C | CA381891318 | SERPINH1 | c.703A>C (p.Met235Leu) c.52A>C (p.Met18Leu) | |
| 11 | g.75568811A>G | CA381891319 | SERPINH1 | c.703A>G (p.Met235Val) c.52A>G (p.Met18Val) | |
| 11 | g.75568811A>T | CA381891321 | SERPINH1 | c.703A>T (p.Met235Leu) c.52A>T (p.Met18Leu) | |
| 11 | g.75568812T>A | CA381891322 | SERPINH1 | c.704T>A (p.Met235Lys) c.53T>A (p.Met18Lys) | dbSNP |
| 11 | g.75568812T>C | CA381891324 | SERPINH1 | c.704T>C (p.Met235Thr) c.53T>C (p.Met18Thr) | gnomAD v4 COSMIC |
| 11 | g.75568812T>G | CA381891325 | SERPINH1 | c.704T>G (p.Met235Arg) c.53T>G (p.Met18Arg) | |
| 11 | g.75568812T= | CA1983388687 | SERPINH1 | c.704T= (p.Met235=) c.53T= (p.Met18=) | |
| 11 | g.75568813G>A | CA381891327 | SERPINH1 | c.705G>A (p.Met235Ile) c.54G>A (p.Met18Ile) | gnomAD v4 COSMIC |
| 11 | g.75568813G>C | CA6190893 | SERPINH1 | c.705G>C (p.Met235Ile) c.54G>C (p.Met18Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568813G= | CA1983388688 | SERPINH1 | c.705G= (p.Met235=) c.54G= (p.Met18=) | |
| 11 | g.75568813G>T | CA6190892 | SERPINH1 | c.705G>T (p.Met235Ile) c.54G>T (p.Met18Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568814A>C | CA381891329 | SERPINH1 | c.706A>C (p.Met236Leu) c.55A>C (p.Met19Leu) | |
| 11 | g.75568814A>G | CA381891332 | SERPINH1 | c.706A>G (p.Met236Val) c.55A>G (p.Met19Val) | |
| 11 | g.75568814A>T | CA381891330 | SERPINH1 | c.706A>T (p.Met236Leu) c.55A>T (p.Met19Leu) | gnomAD v4 |
| 11 | g.75568815T>A | CA381891333 | SERPINH1 | c.707T>A (p.Met236Lys) c.56T>A (p.Met19Lys) | |
| 11 | g.75568815T>C | CA224683861 | SERPINH1 | c.707T>C (p.Met236Thr) c.56T>C (p.Met19Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568815T>G | CA381891335 | SERPINH1 | c.707T>G (p.Met236Arg) c.56T>G (p.Met19Arg) | |
| 11 | g.75568815T= | CA1983388689 | SERPINH1 | c.707T= (p.Met236=) c.56T= (p.Met19=) | |
| 11 | g.75568816G>A | CA381891337 | SERPINH1 | c.708G>A (p.Met236Ile) c.57G>A (p.Met19Ile) | |
| 11 | g.75568816G>C | CA381891339 | SERPINH1 | c.708G>C (p.Met236Ile) c.57G>C (p.Met19Ile) | gnomAD v4 |
| 11 | g.75568816G>T | CA381891340 | SERPINH1 | c.708G>T (p.Met236Ile) c.57G>T (p.Met19Ile) | |
| 11 | g.75568817A>C | CA381891342 | SERPINH1 | c.709A>C (p.Met237Leu) c.58A>C (p.Met20Leu) | |
| 11 | g.75568817A>G | CA381891343 | SERPINH1 | c.709A>G (p.Met237Val) c.58A>G (p.Met20Val) | |
| 11 | g.75568817A>T | CA381891344 | SERPINH1 | c.709A>T (p.Met237Leu) c.58A>T (p.Met20Leu) | |
| 11 | g.75568818T>A | CA381891346 | SERPINH1 | c.710T>A (p.Met237Lys) c.59T>A (p.Met20Lys) | |
| 11 | g.75568818T>C | CA10588848 | SERPINH1 | c.710T>C (p.Met237Thr) c.59T>C (p.Met20Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568818T>G | CA381891348 | SERPINH1 | c.710T>G (p.Met237Arg) c.59T>G (p.Met20Arg) | |
| 11 | g.75568818T= | CA1983388690 | SERPINH1 | c.710T= (p.Met237=) c.59T= (p.Met20=) | |
| 11 | g.75568819G>A | CA381891353 | SERPINH1 | c.711G>A (p.Met237Ile) c.60G>A (p.Met20Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568819G>C | CA381891350 | SERPINH1 | c.711G>C (p.Met237Ile) c.60G>C (p.Met20Ile) | |
| 11 | g.75568819G= | CA1983388691 | SERPINH1 | c.711G= (p.Met237=) c.60G= (p.Met20=) | |
| 11 | g.75568819G>T | CA381891351 | SERPINH1 | c.711G>T (p.Met237Ile) c.60G>T (p.Met20Ile) | |
| 11 | g.75568820C>A | CA381891354 | SERPINH1 | c.712C>A (p.His238Asn) c.61C>A (p.His21Asn) | |
| 11 | g.75568820C>G | CA381891356 | SERPINH1 | c.712C>G (p.His238Asp) c.61C>G (p.His21Asp) | |
| 11 | g.75568820C>T | CA381891358 | SERPINH1 | c.712C>T (p.His238Tyr) c.61C>T (p.His21Tyr) | ClinVar dbSNP |
| 11 | g.75568821A>C | CA381891359 | SERPINH1 | c.713A>C (p.His238Pro) c.62A>C (p.His21Pro) | |
| 11 | g.75568821A>G | CA381891361 | SERPINH1 | c.713A>G (p.His238Arg) c.62A>G (p.His21Arg) | |
| 11 | g.75568821A>T | CA381891363 | SERPINH1 | c.713A>T (p.His238Leu) c.62A>T (p.His21Leu) | |
| 11 | g.75568822C>A | CA6190894 | SERPINH1 | c.714C>A (p.His238Gln) c.63C>A (p.His21Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568822C= | CA1983388692 | SERPINH1 | c.714C= (p.His238=) c.63C= (p.His21=) | |
| 11 | g.75568822C>G | CA381891365 | SERPINH1 | c.714C>G (p.His238Gln) c.63C>G (p.His21Gln) | |
| 11 | g.75568822C>T | CA475721273 | SERPINH1 | c.714C>T (p.His238=) c.63C>T (p.His21=) | ClinVar dbSNP |
| 11 | g.75568823C>A | CA475721276 | SERPINH1 | c.715C>A (p.Arg239=) c.64C>A (p.Arg22=) | gnomAD v4 |
| 11 | g.75568823C= | CA1983388693 | SERPINH1 | c.715C= (p.Arg239=) c.64C= (p.Arg22=) | |
| 11 | g.75568823C>G | CA381891366 | SERPINH1 | c.715C>G (p.Arg239Gly) c.64C>G (p.Arg22Gly) | |
| 11 | g.75568823C>T | CA6190895 | SERPINH1 | c.715C>T (p.Arg239Trp) c.64C>T (p.Arg22Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568824G>A | CA6190896 | SERPINH1 | c.716G>A (p.Arg239Gln) c.65G>A (p.Arg22Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.75568824G>C | CA381891370 | SERPINH1 | c.716G>C (p.Arg239Pro) c.65G>C (p.Arg22Pro) | |
| 11 | g.75568824G= | CA1983388694 | SERPINH1 | c.716G= (p.Arg239=) c.65G= (p.Arg22=) | |
| 11 | g.75568824G>T | CA10605668 | SERPINH1 | c.716G>T (p.Arg239Leu) c.65G>T (p.Arg22Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568825G>A | CA475721279 | SERPINH1 | c.717G>A (p.Arg239=) c.66G>A (p.Arg22=) | dbSNP gnomAD v4 |
| 11 | g.75568825G>C | CA475721281 | SERPINH1 | c.717G>C (p.Arg239=) c.66G>C (p.Arg22=) | |
| 11 | g.75568825G= | CA1983388695 | SERPINH1 | c.717G= (p.Arg239=) c.66G= (p.Arg22=) | |
| 11 | g.75568825G>T | CA475721280 | SERPINH1 | c.717G>T (p.Arg239=) c.66G>T (p.Arg22=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568826A>C | CA381891371 | SERPINH1 | c.718A>C (p.Thr240Pro) c.67A>C (p.Thr23Pro) | |
| 11 | g.75568826A>G | CA381891372 | SERPINH1 | c.718A>G (p.Thr240Ala) c.67A>G (p.Thr23Ala) | gnomAD v4 |
| 11 | g.75568826A>T | CA381891373 | SERPINH1 | c.718A>T (p.Thr240Ser) c.67A>T (p.Thr23Ser) | |
| 11 | g.75568827C>A | CA381891374 | SERPINH1 | c.719C>A (p.Thr240Lys) c.68C>A (p.Thr23Lys) | |
| 11 | g.75568827C>G | CA381891375 | SERPINH1 | c.719C>G (p.Thr240Arg) c.68C>G (p.Thr23Arg) | |
| 11 | g.75568827C>T | CA381891377 | SERPINH1 | c.719C>T (p.Thr240Ile) c.68C>T (p.Thr23Ile) | gnomAD v4 |
| 11 | g.75568828A>C | CA475721282 | SERPINH1 | c.720A>C (p.Thr240=) c.69A>C (p.Thr23=) | |
| 11 | g.75568828A>G | CA475721283 | SERPINH1 | c.720A>G (p.Thr240=) c.69A>G (p.Thr23=) | |
| 11 | g.75568828A>T | CA475721284 | SERPINH1 | c.720A>T (p.Thr240=) c.69A>T (p.Thr23=) | gnomAD v4 |
| 11 | g.75568829G>A | CA381891378 | SERPINH1 | c.721G>A (p.Gly241Ser) c.70G>A (p.Gly24Ser) | dbSNP |
| 11 | g.75568829G>C | CA381891379 | SERPINH1 | c.721G>C (p.Gly241Arg) c.70G>C (p.Gly24Arg) | dbSNP |
| 11 | g.75568829G= | CA1983388696 | SERPINH1 | c.721G= (p.Gly241=) c.70G= (p.Gly24=) | |
| 11 | g.75568829G>T | CA381891381 | SERPINH1 | c.721G>T (p.Gly241Cys) c.70G>T (p.Gly24Cys) | |
| 11 | g.75568830G>A | CA381891384 | SERPINH1 | c.721+1G>A (n.721+1G>A) c.70+1G>A (n.70+1G>A) | |
| 11 | g.75568830G>C | CA224683881 | SERPINH1 | c.721+1G>C (n.721+1G>C) c.70+1G>C (n.70+1G>C) | dbSNP |
| 11 | g.75568830G= | CA1983388697 | SERPINH1 | c.721+1G= (n.721+1G=) c.70+1G= (n.70+1G=) | |
| 11 | g.75568830G>T | CA381891385 | SERPINH1 | c.721+1G>T (n.721+1G>T) c.70+1G>T (n.70+1G>T) | |
| 11 | g.75568831T>A | CA381891390 | SERPINH1 | c.721+2T>A (n.721+2T>A) c.70+2T>A (n.70+2T>A) | |
| 11 | g.75568831T>C | CA381891389 | SERPINH1 | c.721+2T>C (n.721+2T>C) c.70+2T>C (n.70+2T>C) | |
| 11 | g.75568831T>G | CA381891387 | SERPINH1 | c.721+2T>G (n.721+2T>G) c.70+2T>G (n.70+2T>G) | |
| 11 | g.75568832A= | CA1983388698 | SERPINH1 | c.721+3A= (n.721+3A=) c.70+3A= (n.70+3A=) | |
| 11 | g.75568832A>G | CA2615177230 | SERPINH1 | c.721+3A>G (n.721+3A>G) c.70+3A>G (n.70+3A>G) | gnomAD v4 |
| 11 | g.75568832A>T | CA1983388699 | SERPINH1 | c.721+3A>T (n.721+3A>T) c.70+3A>T (n.70+3A>T) | dbSNP gnomAD v4 |
| 11 | g.75568834G>A | CA2615177234 | SERPINH1 | c.721+5G>A (n.721+5G>A) c.70+5G>A (n.70+5G>A) | gnomAD v4 |
| 11 | g.75568834G>T | CA2615177235 | SERPINH1 | c.721+5G>T (n.721+5G>T) c.70+5G>T (n.70+5G>T) | gnomAD v4 |
| 11 | g.75568835T>G | CA1983388701 | SERPINH1 | c.721+6T>G (n.721+6T>G) c.70+6T>G (n.70+6T>G) | dbSNP |
| 11 | g.75568835T= | CA1983388700 | SERPINH1 | c.721+6T= (n.721+6T=) c.70+6T= (n.70+6T=) | |
| 11 | g.75568836G>A | CA2724498502 | SERPINH1 | c.721+7G>A (n.721+7G>A) c.70+7G>A (n.70+7G>A) | dbSNP |
| 11 | g.75568838T>C | CA202301 | SERPINH1 | c.721+9T>C (n.721+9T>C) c.70+9T>C (n.70+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568838T= | CA1983388702 | SERPINH1 | c.721+9T= (n.721+9T=) c.70+9T= (n.70+9T=) | |
| 11 | g.75568840_75568841del | CA2615177236 | SERPINH1 | c.721+11_721+12del (n.721+11_721+12del) c.70+11_70+12del (n.70+11_70+12del) | gnomAD v4 |
| 11 | g.75568839G>A | CA1983388704 | SERPINH1 | c.721+10G>A (n.721+10G>A) c.70+10G>A (n.70+10G>A) | dbSNP gnomAD v4 |
| 11 | g.75568839G= | CA1983388703 | SERPINH1 | c.721+10G= (n.721+10G=) c.70+10G= (n.70+10G=) | |
| 11 | g.75568844G= | CA1983388705 | SERPINH1 | c.721+15G= (n.721+15G=) c.70+15G= (n.70+15G=) | |
| 11 | g.75568844G>T | CA680258597 | SERPINH1 | c.721+15G>T (n.721+15G>T) c.70+15G>T (n.70+15G>T) | dbSNP |
| 11 | g.75568846G>A | CA2615177242 | SERPINH1 | c.721+17G>A (n.721+17G>A) c.70+17G>A (n.70+17G>A) | gnomAD v4 |
| 11 | g.75568846G>T | CA2615177244 | SERPINH1 | c.721+17G>T (n.721+17G>T) c.70+17G>T (n.70+17G>T) | gnomAD v4 |
| 11 | g.75568847C>A | CA600296420 | SERPINH1 | c.721+18C>A (n.721+18C>A) c.70+18C>A (n.70+18C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568847C= | CA1983388706 | SERPINH1 | c.721+18C= (n.721+18C=) c.70+18C= (n.70+18C=) | |
| 11 | g.75568847C>G | CA600296421 | SERPINH1 | c.721+18C>G (n.721+18C>G) c.70+18C>G (n.70+18C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568847C>T | CA2574927276 | SERPINH1 | c.721+18C>T (n.721+18C>T) c.70+18C>T (n.70+18C>T) | |
| 11 | g.75568848A= | CA1983388707 | SERPINH1 | c.721+19A= (n.721+19A=) c.70+19A= (n.70+19A=) | |
| 11 | g.75568848A>C | CA600296422 | SERPINH1 | c.721+19A>C (n.721+19A>C) c.70+19A>C (n.70+19A>C) | dbSNP gnomAD v2 |
| 11 | g.75568849G>C | CA600296423 | SERPINH1 | c.721+20G>C (n.721+20G>C) c.70+20G>C (n.70+20G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568849G= | CA1983388708 | SERPINH1 | c.721+20G= (n.721+20G=) c.70+20G= (n.70+20G=) | |
| 11 | g.75568850G>A | CA2615177248 | SERPINH1 | c.721+21G>A (n.721+21G>A) c.70+21G>A (n.70+21G>A) | gnomAD v4 |
| 11 | g.75568851G>C | CA2615177250 | SERPINH1 | c.721+22G>C (n.721+22G>C) c.70+22G>C (n.70+22G>C) | gnomAD v4 |
| 11 | g.75568851G= | CA1983388709 | SERPINH1 | c.721+22G= (n.721+22G=) c.70+22G= (n.70+22G=) | |
| 11 | g.75568851G>T | CA6190897 | SERPINH1 | c.721+22G>T (n.721+22G>T) c.70+22G>T (n.70+22G>T) | dbSNP ExAC gnomAD v2 |
| 11 | g.75568853G>A | CA680258604 | SERPINH1 | c.721+24G>A (n.721+24G>A) c.70+24G>A (n.70+24G>A) | dbSNP gnomAD v4 |
| 11 | g.75568853G= | CA1983388710 | SERPINH1 | c.721+24G= (n.721+24G=) c.70+24G= (n.70+24G=) | |
| 11 | g.75568855C>A | CA2615177254 | SERPINH1 | c.721+26C>A (n.721+26C>A) c.70+26C>A (n.70+26C>A) | gnomAD v4 |
| 11 | g.75568855C>G | CA2615177252 | SERPINH1 | c.721+26C>G (n.721+26C>G) c.70+26C>G (n.70+26C>G) | gnomAD v4 |
| 11 | g.75568857A= | CA1983388711 | SERPINH1 | c.721+28A= (n.721+28A=) c.70+28A= (n.70+28A=) | |
| 11 | g.75568857A>C | CA1983388712 | SERPINH1 | c.721+28A>C (n.721+28A>C) c.70+28A>C (n.70+28A>C) | dbSNP gnomAD v4 |
| 11 | g.75568857A>G | CA2792739749 | SERPINH1 | c.721+28A>G (n.721+28A>G) c.70+28A>G (n.70+28A>G) | |
| 11 | g.75568861G>A | CA2615177260 | SERPINH1 | c.721+32G>A (n.721+32G>A) c.70+32G>A (n.70+32G>A) | gnomAD v4 |
| 11 | g.75568861G>C | CA600296424 | SERPINH1 | c.721+32G>C (n.721+32G>C) c.70+32G>C (n.70+32G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568861G= | CA1983388713 | SERPINH1 | c.721+32G= (n.721+32G=) c.70+32G= (n.70+32G=) | |
| 11 | g.75568863del | CA2574927277 | SERPINH1 | c.721+34del (n.721+34del) c.70+34del (n.70+34del) | |
| 11 | g.75568863G>A | CA6190898 | SERPINH1 | c.721+34G>A (n.721+34G>A) c.70+34G>A (n.70+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568863G= | CA1983388715 | SERPINH1 | c.721+34G= (n.721+34G=) c.70+34G= (n.70+34G=) | |
| 11 | g.75568863G>T | CA1983388714 | SERPINH1 | c.721+34G>T (n.721+34G>T) c.70+34G>T (n.70+34G>T) | dbSNP gnomAD v4 |
| 11 | g.75568864T>C | CA600296425 | SERPINH1 | c.721+35T>C (n.721+35T>C) c.70+35T>C (n.70+35T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568864T>G | CA6190899 | SERPINH1 | c.721+35T>G (n.721+35T>G) c.70+35T>G (n.70+35T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568864T= | CA1983388716 | SERPINH1 | c.721+35T= (n.721+35T=) c.70+35T= (n.70+35T=) | |
| 11 | g.75568865G>A | CA224683899 | SERPINH1 | c.721+36G>A (n.721+36G>A) c.70+36G>A (n.70+36G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568865G>C | CA2615177275 | SERPINH1 | c.721+36G>C (n.721+36G>C) c.70+36G>C (n.70+36G>C) | gnomAD v4 |
| 11 | g.75568865G= | CA1983388717 | SERPINH1 | c.721+36G= (n.721+36G=) c.70+36G= (n.70+36G=) | |
| 11 | g.75568867G>A | CA600296426 | SERPINH1 | c.721+38G>A (n.721+38G>A) c.70+38G>A (n.70+38G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568867G= | CA1983388718 | SERPINH1 | c.721+38G= (n.721+38G=) c.70+38G= (n.70+38G=) | |
| 11 | g.75568867G>T | CA600296427 | SERPINH1 | c.721+38G>T (n.721+38G>T) c.70+38G>T (n.70+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568868G= | CA1983388719 | SERPINH1 | c.721+39G= (n.721+39G=) c.70+39G= (n.70+39G=) | |
| 11 | g.75568868G>T | CA6190900 | SERPINH1 | c.721+39G>T (n.721+39G>T) c.70+39G>T (n.70+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568869G= | CA1983388720 | SERPINH1 | c.721+40G= (n.721+40G=) c.70+40G= (n.70+40G=) | |
| 11 | g.75568869G>T | CA1983388721 | SERPINH1 | c.721+40G>T (n.721+40G>T) c.70+40G>T (n.70+40G>T) | dbSNP gnomAD v4 |
| 11 | g.75568870T>C | CA2615177280 | SERPINH1 | c.721+41T>C (n.721+41T>C) c.70+41T>C (n.70+41T>C) | gnomAD v4 |
| 11 | g.75568870T>G | CA1983388723 | SERPINH1 | c.721+41T>G (n.721+41T>G) c.70+41T>G (n.70+41T>G) | dbSNP |
| 11 | g.75568870T= | CA1983388722 | SERPINH1 | c.721+41T= (n.721+41T=) c.70+41T= (n.70+41T=) | |
| 11 | g.75568872C>A | CA2615177281 | SERPINH1 | c.721+43C>A (n.721+43C>A) c.70+43C>A (n.70+43C>A) | gnomAD v4 |
| 11 | g.75568873A= | CA1983388724 | SERPINH1 | c.721+44A= (n.721+44A=) c.70+44A= (n.70+44A=) | |
| 11 | g.75568873A>G | CA680258620 | SERPINH1 | c.721+44A>G (n.721+44A>G) c.70+44A>G (n.70+44A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568874A= | CA1983388725 | SERPINH1 | c.721+45A= (n.721+45A=) c.70+45A= (n.70+45A=) | |
| 11 | g.75568874A>C | CA2792739751 | SERPINH1 | c.721+45A>C (n.721+45A>C) c.70+45A>C (n.70+45A>C) | |
| 11 | g.75568874A>G | CA6190901 | SERPINH1 | c.721+45A>G (n.721+45A>G) c.70+45A>G (n.70+45A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568874A>T | CA224683901 | SERPINH1 | c.721+45A>T (n.721+45A>T) c.70+45A>T (n.70+45A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568875G>C | CA2574927278 | SERPINH1 | c.721+46G>C (n.721+46G>C) c.70+46G>C (n.70+46G>C) | |
| 11 | g.75568878T>C | CA2615177290 | SERPINH1 | c.721+49T>C (n.721+49T>C) c.70+49T>C (n.70+49T>C) | gnomAD v4 |
| 11 | g.75568878T>G | CA1983388726 | SERPINH1 | c.721+49T>G (n.721+49T>G) c.70+49T>G (n.70+49T>G) | dbSNP |
| 11 | g.75568878T= | CA1983388727 | SERPINH1 | c.721+49T= (n.721+49T=) c.70+49T= (n.70+49T=) |