| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78964487T>A | CA360193222 | ARSB | c.619A>T (p.Lys207Ter) n.690A>T | |
| 5 | g.78964487T>C | CA360193223 | ARSB | c.619A>G (p.Lys207Glu) n.690A>G | |
| 5 | g.78964487T>G | CA360193224 | ARSB | c.619A>C (p.Lys207Gln) n.690A>C | |
| 5 | g.78964488A>C | CA360193225 | ARSB | c.618T>G (p.Tyr206Ter) n.689T>G | |
| 5 | g.78964488A>G | CA445101820 | ARSB | c.618T>C (p.Tyr206=) n.689T>C | |
| 5 | g.78964488A>T | CA360193226 | ARSB | c.618T>A (p.Tyr206Ter) n.689T>A | |
| 5 | g.78964489T>A | CA360193227 | ARSB | c.617A>T (p.Tyr206Phe) n.688A>T | |
| 5 | g.78964489T>C | CA3318220 | ARSB | c.617A>G (p.Tyr206Cys) n.688A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964489T>G | CA360193228 | ARSB | c.617A>C (p.Tyr206Ser) n.688A>C | |
| 5 | g.78964489T= | CA1557701747 | ARSB | c.617A= (p.Tyr206=) n.688A= | |
| 5 | g.78964490A>C | CA360193229 | ARSB | c.616T>G (p.Tyr206Asp) n.687T>G | |
| 5 | g.78964490A>G | CA360193230 | ARSB | c.616T>C (p.Tyr206His) n.687T>C | gnomAD v4 |
| 5 | g.78964490A>T | CA360193231 | ARSB | c.616T>A (p.Tyr206Asn) n.687T>A | |
| 5 | g.78964491T>A | CA3318221 | ARSB | c.615A>T (p.Gly205=) n.686A>T | dbSNP ExAC gnomAD v2 |
| 5 | g.78964491T>C | CA3318222 | ARSB | c.615A>G (p.Gly205=) n.686A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964491T>G | CA445101839 | ARSB | c.615A>C (p.Gly205=) n.686A>C | |
| 5 | g.78964491T= | CA1557701748 | ARSB | c.615A= (p.Gly205=) n.686A= | |
| 5 | g.78964492C>A | CA360193232 | ARSB | c.614G>T (p.Gly205Val) n.685G>T | COSMIC COSMIC |
| 5 | g.78964492C>G | CA360193233 | ARSB | c.614G>C (p.Gly205Ala) n.685G>C | |
| 5 | g.78964492C>T | CA360193234 | ARSB | c.614G>A (p.Gly205Glu) n.685G>A | COSMIC COSMIC |
| 5 | g.78964493C>A | CA360193235 | ARSB | c.613G>T (p.Gly205Ter) n.684G>T | |
| 5 | g.78964493C>G | CA360193236 | ARSB | c.613G>C (p.Gly205Arg) n.684G>C | |
| 5 | g.78964493C>T | CA360193237 | ARSB | c.613G>A (p.Gly205Arg) n.684G>A | gnomAD v4 |
| 5 | g.78964494T>A | CA445101849 | ARSB | c.612A>T (p.Thr204=) n.683A>T | |
| 5 | g.78964494T>C | CA445101853 | ARSB | c.612A>G (p.Thr204=) n.683A>G | gnomAD v4 COSMIC COSMIC |
| 5 | g.78964494T>G | CA445101854 | ARSB | c.612A>C (p.Thr204=) n.683A>C | |
| 5 | g.78964495G>A | CA360193240 | ARSB | c.611C>T (p.Thr204Ile) n.682C>T | |
| 5 | g.78964495G>C | CA360193239 | ARSB | c.611C>G (p.Thr204Arg) n.682C>G | |
| 5 | g.78964495G>T | CA360193238 | ARSB | c.611C>A (p.Thr204Lys) n.682C>A | |
| 5 | g.78964496T>A | CA360193241 | ARSB | c.610A>T (p.Thr204Ser) n.681A>T | |
| 5 | g.78964496T>C | CA360193242 | ARSB | c.610A>G (p.Thr204Ala) n.681A>G | gnomAD v4 |
| 5 | g.78964496T>G | CA360193243 | ARSB | c.610A>C (p.Thr204Pro) n.681A>C | |
| 5 | g.78964497T>A | CA445101861 | ARSB | c.609A>T (p.Ala203=) n.680A>T | |
| 5 | g.78964497T>C | CA445101864 | ARSB | c.609A>G (p.Ala203=) n.680A>G | |
| 5 | g.78964497T>G | CA445101867 | ARSB | c.609A>C (p.Ala203=) n.680A>C | |
| 5 | g.78964498G>A | CA360193244 | ARSB | c.608C>T (p.Ala203Val) n.679C>T | |
| 5 | g.78964498G>C | CA360193245 | ARSB | c.608C>G (p.Ala203Gly) n.679C>G | |
| 5 | g.78964498G>T | CA360193246 | ARSB | c.608C>A (p.Ala203Glu) n.679C>A | |
| 5 | g.78964499C>A | CA360193247 | ARSB | c.607G>T (p.Ala203Ser) n.678G>T | |
| 5 | g.78964499C>G | CA360193249 | ARSB | c.607G>C (p.Ala203Pro) n.678G>C | |
| 5 | g.78964499C>T | CA360193248 | ARSB | c.607G>A (p.Ala203Thr) n.678G>A | |
| 5 | g.78964500A>C | CA445101881 | ARSB | c.606T>G (p.Val202=) n.677T>G | |
| 5 | g.78964500A>G | CA445101882 | ARSB | c.606T>C (p.Val202=) n.677T>C | |
| 5 | g.78964500A>T | CA445101883 | ARSB | c.606T>A (p.Val202=) n.677T>A | |
| 5 | g.78964501A>C | CA360193250 | ARSB | c.605T>G (p.Val202Gly) n.676T>G | |
| 5 | g.78964501A>G | CA360193251 | ARSB | c.605T>C (p.Val202Ala) n.676T>C | |
| 5 | g.78964501A>T | CA360193252 | ARSB | c.605T>A (p.Val202Asp) n.676T>A | |
| 5 | g.78964502C>A | CA360193253 | ARSB | c.604G>T (p.Val202Phe) n.675G>T | |
| 5 | g.78964502C>G | CA360193254 | ARSB | c.604G>C (p.Val202Leu) n.675G>C | |
| 5 | g.78964502C>T | CA360193255 | ARSB | c.604G>A (p.Val202Ile) n.675G>A | |
| 5 | g.78964503T>A | CA360193256 | ARSB | c.603A>T (p.Glu201Asp) n.674A>T | |
| 5 | g.78964503T>C | CA445101893 | ARSB | c.603A>G (p.Glu201=) n.674A>G | |
| 5 | g.78964503T>G | CA360193257 | ARSB | c.603A>C (p.Glu201Asp) n.674A>C | |
| 5 | g.78964504T>A | CA360193258 | ARSB | c.602A>T (p.Glu201Val) n.673A>T | |
| 5 | g.78964504T>C | CA360193259 | ARSB | c.602A>G (p.Glu201Gly) n.673A>G | dbSNP |
| 5 | g.78964504T>G | CA360193260 | ARSB | c.602A>C (p.Glu201Ala) n.673A>C | |
| 5 | g.78964504T= | CA1557701749 | ARSB | c.602A= (p.Glu201=) n.673A= | |
| 5 | g.78964505C>A | CA360193261 | ARSB | c.601G>T (p.Glu201Ter) n.672G>T | |
| 5 | g.78964505C>G | CA360193263 | ARSB | c.601G>C (p.Glu201Gln) n.672G>C | |
| 5 | g.78964505C>T | CA360193262 | ARSB | c.601G>A (p.Glu201Lys) n.672G>A | |
| 5 | g.78964506T>A | CA360193264 | ARSB | c.600A>T (p.Glu200Asp) n.671A>T | |
| 5 | g.78964506T>C | CA445101913 | ARSB | c.600A>G (p.Glu200=) n.671A>G | |
| 5 | g.78964506T>G | CA360193265 | ARSB | c.600A>C (p.Glu200Asp) n.671A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964506T= | CA1557701750 | ARSB | c.600A= (p.Glu200=) n.671A= | |
| 5 | g.78964507T>A | CA360193266 | ARSB | c.599A>T (p.Glu200Val) n.670A>T | |
| 5 | g.78964507T>C | CA360193267 | ARSB | c.599A>G (p.Glu200Gly) n.670A>G | |
| 5 | g.78964507T>G | CA360193268 | ARSB | c.599A>C (p.Glu200Ala) n.670A>C | |
| 5 | g.78964508C>A | CA360193269 | ARSB | c.598G>T (p.Glu200Ter) n.669G>T | |
| 5 | g.78964508C= | CA1557701751 | ARSB | c.598G= (p.Glu200=) n.669G= | |
| 5 | g.78964508C>G | CA360193270 | ARSB | c.598G>C (p.Glu200Gln) n.669G>C | |
| 5 | g.78964508C>T | CA3318223 | ARSB | c.598G>A (p.Glu200Lys) n.669G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964509G>A | CA3318224 | ARSB | c.597C>T (p.Gly199=) n.668C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964509G>C | CA445101944 | ARSB | c.597C>G (p.Gly199=) n.668C>G | |
| 5 | g.78964509G= | CA1557701752 | ARSB | c.597C= (p.Gly199=) n.668C= | |
| 5 | g.78964509G>T | CA445101941 | ARSB | c.597C>A (p.Gly199=) n.668C>A | |
| 5 | g.78964510C>A | CA360193271 | ARSB | c.596G>T (p.Gly199Val) n.667G>T | |
| 5 | g.78964510C>G | CA360193272 | ARSB | c.596G>C (p.Gly199Ala) n.667G>C | |
| 5 | g.78964510C>T | CA360193273 | ARSB | c.596G>A (p.Gly199Asp) n.667G>A | |
| 5 | g.78964511C>A | CA360193274 | ARSB | c.595G>T (p.Gly199Cys) n.666G>T | |
| 5 | g.78964511C>G | CA360193275 | ARSB | c.595G>C (p.Gly199Arg) n.666G>C | |
| 5 | g.78964511C>T | CA360193276 | ARSB | c.595G>A (p.Gly199Ser) n.666G>A | gnomAD v4 |
| 5 | g.78964512A>C | CA360193277 | ARSB | c.594T>G (p.Asp198Glu) n.665T>G | |
| 5 | g.78964512A>G | CA445101962 | ARSB | c.594T>C (p.Asp198=) n.665T>C | |
| 5 | g.78964512A>T | CA360193278 | ARSB | c.594T>A (p.Asp198Glu) n.665T>A | |
| 5 | g.78964513T>A | CA360193279 | ARSB | c.593A>T (p.Asp198Val) n.664A>T | |
| 5 | g.78964513T>C | CA360193280 | ARSB | c.593A>G (p.Asp198Gly) n.664A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964513T>G | CA360193281 | ARSB | c.593A>C (p.Asp198Ala) n.664A>C | |
| 5 | g.78964513T= | CA1557701753 | ARSB | c.593A= (p.Asp198=) n.664A= | |
| 5 | g.78964514C>A | CA360193282 | ARSB | c.592G>T (p.Asp198Tyr) n.663G>T | |
| 5 | g.78964514C>G | CA360193283 | ARSB | c.592G>C (p.Asp198His) n.663G>C | |
| 5 | g.78964514C>T | CA360193284 | ARSB | c.592G>A (p.Asp198Asn) n.663G>A | |
| 5 | g.78964515T>A | CA445101980 | ARSB | c.591A>T (p.Arg197=) n.662A>T | |
| 5 | g.78964515T>C | CA445101984 | ARSB | c.591A>G (p.Arg197=) n.662A>G | |
| 5 | g.78964515T>G | CA445101992 | ARSB | c.591A>C (p.Arg197=) n.662A>C | |
| 5 | g.78964516C>A | CA360193285 | ARSB | c.590G>T (p.Arg197Leu) n.661G>T | |
| 5 | g.78964516C= | CA1557701754 | ARSB | c.590G= (p.Arg197=) n.661G= | |
| 5 | g.78964516C>G | CA360193286 | ARSB | c.590G>C (p.Arg197Pro) n.661G>C | |
| 5 | g.78964516C>T | CA3318225 | ARSB | c.590G>A (p.Arg197Gln) n.661G>A | dbSNP ExAC gnomAD v4 |
| 5 | g.78964517G>A | CA360193287 | ARSB | c.589C>T (p.Arg197Ter) n.660C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964517G>C | CA3318226 | ARSB | c.589C>G (p.Arg197Gly) n.660C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964517G= | CA1557701755 | ARSB | c.589C= (p.Arg197=) n.660C= | |
| 5 | g.78964517G>T | CA445102015 | ARSB | c.589C>A (p.Arg197=) n.660C>A | |
| 5 | g.78964518A>C | CA360193289 | ARSB | c.588T>G (p.Phe196Leu) n.659T>G | |
| 5 | g.78964518A>G | CA445102026 | ARSB | c.588T>C (p.Phe196=) n.659T>C | |
| 5 | g.78964518A>T | CA360193288 | ARSB | c.588T>A (p.Phe196Leu) n.659T>A | |
| 5 | g.78964519A>C | CA360193290 | ARSB | c.587T>G (p.Phe196Cys) n.658T>G | |
| 5 | g.78964519A>G | CA360193291 | ARSB | c.587T>C (p.Phe196Ser) n.658T>C | |
| 5 | g.78964519A>T | CA360193292 | ARSB | c.587T>A (p.Phe196Tyr) n.658T>A | |
| 5 | g.78964520A>C | CA360193293 | ARSB | c.586T>G (p.Phe196Val) n.657T>G | |
| 5 | g.78964520A>G | CA360193294 | ARSB | c.586T>C (p.Phe196Leu) n.657T>C | |
| 5 | g.78964520A>T | CA360193295 | ARSB | c.586T>A (p.Phe196Ile) n.657T>A | |
| 5 | g.78964521A>C | CA360193297 | ARSB | c.585T>G (p.Asp195Glu) n.656T>G | |
| 5 | g.78964521A>G | CA445102040 | ARSB | c.585T>C (p.Asp195=) n.656T>C | |
| 5 | g.78964521A>T | CA360193296 | ARSB | c.585T>A (p.Asp195Glu) n.656T>A | |
| 5 | g.78964522T>A | CA360193298 | ARSB | c.584A>T (p.Asp195Val) n.655A>T | |
| 5 | g.78964522T>C | CA360193299 | ARSB | c.584A>G (p.Asp195Gly) n.655A>G | |
| 5 | g.78964522T>G | CA360193300 | ARSB | c.584A>C (p.Asp195Ala) n.655A>C | |
| 5 | g.78964523C>A | CA360193301 | ARSB | c.583G>T (p.Asp195Tyr) n.654G>T | |
| 5 | g.78964523C>G | CA360193302 | ARSB | c.583G>C (p.Asp195His) n.654G>C | |
| 5 | g.78964523C>T | CA360193303 | ARSB | c.583G>A (p.Asp195Asn) n.654G>A | |
| 5 | g.78964524A>C | CA445102052 | ARSB | c.582T>G (p.Leu194=) n.653T>G | ClinVar |
| 5 | g.78964524A>G | CA445102054 | ARSB | c.582T>C (p.Leu194=) n.653T>C | |
| 5 | g.78964524A>T | CA445102053 | ARSB | c.582T>A (p.Leu194=) n.653T>A | |
| 5 | g.78964525A>C | CA360193304 | ARSB | c.581T>G (p.Leu194Arg) n.652T>G | |
| 5 | g.78964525A>G | CA360193306 | ARSB | c.581T>C (p.Leu194Pro) n.652T>C | |
| 5 | g.78964525A>T | CA360193305 | ARSB | c.581T>A (p.Leu194His) n.652T>A | |
| 5 | g.78964526G>A | CA360193307 | ARSB | c.580C>T (p.Leu194Phe) n.651C>T | gnomAD v4 |
| 5 | g.78964526G>C | CA360193308 | ARSB | c.580C>G (p.Leu194Val) n.651C>G | dbSNP gnomAD v4 |
| 5 | g.78964526G>T | CA360193309 | ARSB | c.580C>A (p.Leu194Ile) n.651C>A | gnomAD v4 |
| 5 | g.78964527A>C | CA445102057 | ARSB | c.579T>G (p.Ala193=) n.650T>G | |
| 5 | g.78964527A>G | CA445102061 | ARSB | c.579T>C (p.Ala193=) n.650T>C | |
| 5 | g.78964527A>T | CA445102063 | ARSB | c.579T>A (p.Ala193=) n.650T>A | |
| 5 | g.78964528G>A | CA360193310 | ARSB | c.578C>T (p.Ala193Val) n.649C>T | gnomAD v4 |
| 5 | g.78964528G>C | CA360193311 | ARSB | c.578C>G (p.Ala193Gly) n.649C>G | |
| 5 | g.78964528G>T | CA360193312 | ARSB | c.578C>A (p.Ala193Asp) n.649C>A | |
| 5 | g.78964529C>A | CA360193313 | ARSB | c.577G>T (p.Ala193Ser) n.648G>T | |
| 5 | g.78964529C>G | CA360193314 | ARSB | c.577G>C (p.Ala193Pro) n.648G>C | |
| 5 | g.78964529C>T | CA360193315 | ARSB | c.577G>A (p.Ala193Thr) n.648G>A | |
| 5 | g.78964530A>C | CA360193316 | ARSB | c.576T>G (p.Cys192Trp) n.647T>G | |
| 5 | g.78964530A>G | CA445102092 | ARSB | c.576T>C (p.Cys192=) n.647T>C | |
| 5 | g.78964530A>T | CA360193317 | ARSB | c.576T>A (p.Cys192Ter) n.647T>A | gnomAD v4 |
| 5 | g.78964531C>A | CA360193320 | ARSB | c.575G>T (p.Cys192Phe) n.646G>T | |
| 5 | g.78964531C>G | CA360193319 | ARSB | c.575G>C (p.Cys192Ser) n.646G>C | |
| 5 | g.78964531C>T | CA360193318 | ARSB | c.575G>A (p.Cys192Tyr) n.646G>A | |
| 5 | g.78964532A= | CA1557701756 | ARSB | c.574T= (p.Cys192=) n.645T= | |
| 5 | g.78964532A>C | CA360193321 | ARSB | c.574T>G (p.Cys192Gly) n.645T>G | |
| 5 | g.78964532A>G | CA360193323 | ARSB | c.574T>C (p.Cys192Arg) n.645T>C | ClinVar dbSNP |
| 5 | g.78964532A>T | CA360193322 | ARSB | c.574T>A (p.Cys192Ser) n.645T>A | |
| 5 | g.78964533T>A | CA445102128 | ARSB | c.573A>T (p.Arg191=) n.644A>T | |
| 5 | g.78964533T>C | CA445102131 | ARSB | c.573A>G (p.Arg191=) n.644A>G | gnomAD v4 |
| 5 | g.78964533T>G | CA445102133 | ARSB | c.573A>C (p.Arg191=) n.644A>C | |
| 5 | g.78964534C>A | CA360193324 | ARSB | c.572G>T (p.Arg191Leu) n.643G>T | gnomAD v4 |
| 5 | g.78964534C= | CA1557701757 | ARSB | c.572G= (p.Arg191=) n.643G= | |
| 5 | g.78964534C>G | CA360193325 | ARSB | c.572G>C (p.Arg191Pro) n.643G>C | |
| 5 | g.78964534C>T | CA3318227 | ARSB | c.572G>A (p.Arg191Gln) n.643G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964535G>A | CA121104145 | ARSB | c.571C>T (p.Arg191Ter) n.642C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964535G>C | CA360193326 | ARSB | c.571C>G (p.Arg191Gly) n.642C>G | dbSNP |
| 5 | g.78964535G= | CA1557701758 | ARSB | c.571C= (p.Arg191=) n.642C= | |
| 5 | g.78964535G>T | CA445102144 | ARSB | c.571C>A (p.Arg191=) n.642C>A | |
| 5 | g.78964536T>A | CA445102155 | ARSB | c.570A>T (p.Thr190=) n.641A>T | |
| 5 | g.78964536T>C | CA3318228 | ARSB | c.570A>G (p.Thr190=) n.641A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964536T>G | CA445102167 | ARSB | c.570A>C (p.Thr190=) n.641A>C | |
| 5 | g.78964536T= | CA1557701759 | ARSB | c.570A= (p.Thr190=) n.641A= | |
| 5 | g.78964537G>A | CA3318229 | ARSB | c.569C>T (p.Thr190Ile) n.640C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964537G>C | CA360193327 | ARSB | c.569C>G (p.Thr190Arg) n.640C>G | |
| 5 | g.78964537G= | CA1557701760 | ARSB | c.569C= (p.Thr190=) n.640C= | |
| 5 | g.78964537G>T | CA360193328 | ARSB | c.569C>A (p.Thr190Lys) n.640C>A | |
| 5 | g.78964538T>A | CA3318230 | ARSB | c.568A>T (p.Thr190Ser) n.639A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964538T>C | CA121104174 | ARSB | c.568A>G (p.Thr190Ala) n.639A>G | dbSNP |
| 5 | g.78964538T>G | CA360193329 | ARSB | c.568A>C (p.Thr190Pro) n.639A>C | |
| 5 | g.78964538T= | CA1557701761 | ARSB | c.568A= (p.Thr190=) n.639A= | |
| 5 | g.78964539G>A | CA445102191 | ARSB | c.567C>T (p.Val189=) n.638C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964539G>C | CA445102194 | ARSB | c.567C>G (p.Val189=) n.638C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964539G= | CA1557701762 | ARSB | c.567C= (p.Val189=) n.638C= | |
| 5 | g.78964539G>T | CA445102196 | ARSB | c.567C>A (p.Val189=) n.638C>A | |
| 5 | g.78964540A>C | CA360193330 | ARSB | c.566T>G (p.Val189Gly) n.637T>G | |
| 5 | g.78964540A>G | CA360193331 | ARSB | c.566T>C (p.Val189Ala) n.637T>C | |
| 5 | g.78964540A>T | CA360193332 | ARSB | c.566T>A (p.Val189Asp) n.637T>A | |
| 5 | g.78964541C>A | CA360193333 | ARSB | c.565G>T (p.Val189Phe) n.636G>T | |
| 5 | g.78964541C>G | CA360193334 | ARSB | c.565G>C (p.Val189Leu) n.636G>C | |
| 5 | g.78964541C>T | CA360193335 | ARSB | c.565G>A (p.Val189Ile) n.636G>A | |
| 5 | g.78964542A>C | CA360193336 | ARSB | c.564T>G (p.Asn188Lys) n.635T>G | |
| 5 | g.78964542A>G | CA445102207 | ARSB | c.564T>C (p.Asn188=) n.635T>C | |
| 5 | g.78964542A>T | CA360193337 | ARSB | c.564T>A (p.Asn188Lys) n.635T>A | |
| 5 | g.78964543T>A | CA360193338 | ARSB | c.563A>T (p.Asn188Ile) n.634A>T | |
| 5 | g.78964543T>C | CA360193340 | ARSB | c.563A>G (p.Asn188Ser) n.634A>G | |
| 5 | g.78964543T>G | CA360193339 | ARSB | c.563A>C (p.Asn188Thr) n.634A>C | |
| 5 | g.78964544T>A | CA360193341 | ARSB | c.562A>T (p.Asn188Tyr) n.633A>T | |
| 5 | g.78964544T>C | CA360193342 | ARSB | c.562A>G (p.Asn188Asp) n.633A>G | |
| 5 | g.78964544T>G | CA360193343 | ARSB | c.562A>C (p.Asn188His) n.633A>C | |
| 5 | g.78964545C>A | CA445102213 | ARSB | c.561G>T (p.Leu187=) n.632G>T | |
| 5 | g.78964545C>G | CA445102214 | ARSB | c.561G>C (p.Leu187=) n.632G>C | |
| 5 | g.78964545C>T | CA445102215 | ARSB | c.561G>A (p.Leu187=) n.632G>A | |
| 5 | g.78964546A>C | CA360193344 | ARSB | c.560T>G (p.Leu187Arg) n.631T>G | |
| 5 | g.78964546A>G | CA360193345 | ARSB | c.560T>C (p.Leu187Pro) n.631T>C | |
| 5 | g.78964546A>T | CA360193346 | ARSB | c.560T>A (p.Leu187Gln) n.631T>A | |
| 5 | g.78964547G>A | CA3318231 | ARSB | c.559C>T (p.Leu187=) n.630C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964547G>C | CA360193347 | ARSB | c.559C>G (p.Leu187Val) n.630C>G | gnomAD v4 |
| 5 | g.78964547G= | CA1557701763 | ARSB | c.559C= (p.Leu187=) n.630C= | |
| 5 | g.78964547G>T | CA360193348 | ARSB | c.559C>A (p.Leu187Met) n.630C>A | dbSNP gnomAD v2 |
| 5 | g.78964548A>C | CA445102220 | ARSB | c.558T>G (p.Ala186=) n.629T>G | |
| 5 | g.78964548A>G | CA445102223 | ARSB | c.558T>C (p.Ala186=) n.629T>C | |
| 5 | g.78964548A>T | CA445102221 | ARSB | c.558T>A (p.Ala186=) n.629T>A | |
| 5 | g.78964549G>A | CA3318233 | ARSB | c.557C>T (p.Ala186Val) n.628C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964549G>C | CA3318232 | ARSB | c.557C>G (p.Ala186Gly) n.628C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964549G= | CA1557701764 | ARSB | c.557C= (p.Ala186=) n.628C= | |
| 5 | g.78964549G>T | CA360193349 | ARSB | c.557C>A (p.Ala186Asp) n.628C>A | |
| 5 | g.78964550C>A | CA360193350 | ARSB | c.556G>T (p.Ala186Ser) n.627G>T | |
| 5 | g.78964550C= | CA1557701765 | ARSB | c.556G= (p.Ala186=) n.627G= | |
| 5 | g.78964550C>G | CA360193351 | ARSB | c.556G>C (p.Ala186Pro) n.627G>C | |
| 5 | g.78964550C>T | CA121104198 | ARSB | c.556G>A (p.Ala186Thr) n.627G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964551G>A | CA3318234 | ARSB | c.555C>T (p.Asp185=) n.626C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964551G>C | CA360193352 | ARSB | c.555C>G (p.Asp185Glu) n.626C>G | gnomAD v4 |
| 5 | g.78964551G= | CA1557701766 | ARSB | c.555C= (p.Asp185=) n.626C= | |
| 5 | g.78964551G>T | CA360193353 | ARSB | c.555C>A (p.Asp185Glu) n.626C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964552T>A | CA360193354 | ARSB | c.554A>T (p.Asp185Val) n.625A>T | |
| 5 | g.78964552T>C | CA360193355 | ARSB | c.554A>G (p.Asp185Gly) n.625A>G | |
| 5 | g.78964552T>G | CA360193356 | ARSB | c.554A>C (p.Asp185Ala) n.625A>C | |
| 5 | g.78964553C>A | CA360193357 | ARSB | c.553G>T (p.Asp185Tyr) n.624G>T | |
| 5 | g.78964553C>G | CA360193358 | ARSB | c.553G>C (p.Asp185His) n.624G>C | |
| 5 | g.78964553C>T | CA360193359 | ARSB | c.553G>A (p.Asp185Asn) n.624G>A | |
| 5 | g.78964554A>C | CA360193360 | ARSB | c.552T>G (p.Ile184Met) n.623T>G | |
| 5 | g.78964554A>G | CA445102252 | ARSB | c.552T>C (p.Ile184=) n.623T>C | |
| 5 | g.78964554A>T | CA445102254 | ARSB | c.552T>A (p.Ile184=) n.623T>A | |
| 5 | g.78964555A= | CA1557701767 | ARSB | c.551T= (p.Ile184=) n.622T= | |
| 5 | g.78964555A>C | CA360193361 | ARSB | c.551T>G (p.Ile184Ser) n.622T>G | dbSNP gnomAD v2 |
| 5 | g.78964555A>G | CA360193363 | ARSB | c.551T>C (p.Ile184Thr) n.622T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964555A>T | CA360193362 | ARSB | c.551T>A (p.Ile184Asn) n.622T>A | |
| 5 | g.78964556T>A | CA360193364 | ARSB | c.550A>T (p.Ile184Phe) n.621A>T | |
| 5 | g.78964556T>C | CA10622297 | ARSB | c.550A>G (p.Ile184Val) n.621A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964556T>G | CA360193365 | ARSB | c.550A>C (p.Ile184Leu) n.621A>C | |
| 5 | g.78964556T= | CA1557701768 | ARSB | c.550A= (p.Ile184=) n.621A= | |
| 5 | g.78964557T>A | CA360193366 | ARSB | c.549A>T (p.Leu183Phe) n.620A>T | |
| 5 | g.78964557T>C | CA445102258 | ARSB | c.549A>G (p.Leu183=) n.620A>G | |
| 5 | g.78964557T>G | CA360193367 | ARSB | c.549A>C (p.Leu183Phe) n.620A>C | |
| 5 | g.78964558A>C | CA360193368 | ARSB | c.548T>G (p.Leu183Ter) n.619T>G | |
| 5 | g.78964558A>G | CA360193369 | ARSB | c.548T>C (p.Leu183Ser) n.619T>C | gnomAD v4 |
| 5 | g.78964558A>T | CA360193370 | ARSB | c.548T>A (p.Leu183Ter) n.619T>A | gnomAD v4 |
| 5 | g.78964559A>C | CA360193371 | ARSB | c.547T>G (p.Leu183Val) n.618T>G | |
| 5 | g.78964559A>G | CA445102263 | ARSB | c.547T>C (p.Leu183=) n.618T>C | |
| 5 | g.78964559A>T | CA360193372 | ARSB | c.547T>A (p.Leu183Ile) n.618T>A | |
| 5 | g.78964560T>A | CA445102265 | ARSB | c.546A>T (p.Thr182=) n.617A>T | |
| 5 | g.78964560T>C | CA445102267 | ARSB | c.546A>G (p.Thr182=) n.617A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964560T>G | CA445102268 | ARSB | c.546A>C (p.Thr182=) n.617A>C | |
| 5 | g.78964560T= | CA1557701769 | ARSB | c.546A= (p.Thr182=) n.617A= | |
| 5 | g.78964561G>A | CA360193374 | ARSB | c.545C>T (p.Thr182Ile) n.616C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964561G>C | CA360193375 | ARSB | c.545C>G (p.Thr182Arg) n.616C>G | |
| 5 | g.78964561G= | CA1557701770 | ARSB | c.545C= (p.Thr182=) n.616C= | |
| 5 | g.78964561G>T | CA360193373 | ARSB | c.545C>A (p.Thr182Lys) n.616C>A | |
| 5 | g.78964562T>A | CA360193378 | ARSB | c.544A>T (p.Thr182Ser) n.615A>T | |
| 5 | g.78964562T>C | CA360193376 | ARSB | c.544A>G (p.Thr182Ala) n.615A>G | |
| 5 | g.78964562T>G | CA360193377 | ARSB | c.544A>C (p.Thr182Pro) n.615A>C | |
| 5 | g.78964563A>C | CA360193379 | ARSB | c.543T>G (p.Cys181Trp) n.614T>G | |
| 5 | g.78964563A>G | CA445102278 | ARSB | c.543T>C (p.Cys181=) n.614T>C | gnomAD v4 |
| 5 | g.78964563A>T | CA360193380 | ARSB | c.543T>A (p.Cys181Ter) n.614T>A | |
| 5 | g.78964564C>A | CA360193381 | ARSB | c.542G>T (p.Cys181Phe) n.613G>T | |
| 5 | g.78964564C>G | CA360193382 | ARSB | c.542G>C (p.Cys181Ser) n.613G>C | |
| 5 | g.78964564C>T | CA360193383 | ARSB | c.542G>A (p.Cys181Tyr) n.613G>A | |
| 5 | g.78964565A>C | CA360193384 | ARSB | c.541T>G (p.Cys181Gly) n.612T>G | |
| 5 | g.78964565A>G | CA360193385 | ARSB | c.541T>C (p.Cys181Arg) n.612T>C | gnomAD v4 |
| 5 | g.78964565A>T | CA360193386 | ARSB | c.541T>A (p.Cys181Ser) n.612T>A | |
| 5 | g.78964566G>A | CA445102287 | ARSB | c.540C>T (p.Arg180=) n.611C>T | ClinVar |
| 5 | g.78964566G>C | CA445102288 | ARSB | c.540C>G (p.Arg180=) n.611C>G | |
| 5 | g.78964566G>T | CA445102289 | ARSB | c.540C>A (p.Arg180=) n.611C>A | |
| 5 | g.78964567C>A | CA360193387 | ARSB | c.539G>T (p.Arg180Leu) n.610G>T | |
| 5 | g.78964567C= | CA1557701771 | ARSB | c.539G= (p.Arg180=) n.610G= | |
| 5 | g.78964567C>G | CA360193388 | ARSB | c.539G>C (p.Arg180Pro) n.610G>C | |
| 5 | g.78964567C>T | CA3318235 | ARSB | c.539G>A (p.Arg180His) n.610G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964568G>A | CA3318236 | ARSB | c.538C>T (p.Arg180Cys) n.609C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964568G>C | CA360193389 | ARSB | c.538C>G (p.Arg180Gly) n.609C>G | |
| 5 | g.78964568G= | CA1557701772 | ARSB | c.538C= (p.Arg180=) n.609C= | |
| 5 | g.78964568G>T | CA360193390 | ARSB | c.538C>A (p.Arg180Ser) n.609C>A | |
| 5 | g.78964569T>A | CA360193391 | ARSB | c.537A>T (p.Glu179Asp) n.608A>T | |
| 5 | g.78964569T>C | CA445102297 | ARSB | c.537A>G (p.Glu179=) n.608A>G | |
| 5 | g.78964569T>G | CA360193392 | ARSB | c.537A>C (p.Glu179Asp) n.608A>C | |
| 5 | g.78964570T>A | CA360193393 | ARSB | c.536A>T (p.Glu179Val) n.607A>T | |
| 5 | g.78964570T>C | CA360193394 | ARSB | c.536A>G (p.Glu179Gly) n.607A>G | |
| 5 | g.78964570T>G | CA360193395 | ARSB | c.536A>C (p.Glu179Ala) n.607A>C | |
| 5 | g.78964571C>A | CA360193396 | ARSB | c.535G>T (p.Glu179Ter) n.606G>T | |
| 5 | g.78964571C>G | CA360193397 | ARSB | c.535G>C (p.Glu179Gln) n.606G>C | |
| 5 | g.78964571C>T | CA360193398 | ARSB | c.535G>A (p.Glu179Lys) n.606G>A | |
| 5 | g.78964572A= | CA1557701773 | ARSB | c.534T= (p.His178=) n.605T= | |
| 5 | g.78964572A>C | CA360193399 | ARSB | c.534T>G (p.His178Gln) n.605T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964572A>G | CA3318237 | ARSB | c.534T>C (p.His178=) n.605T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964572A>T | CA360193400 | ARSB | c.534T>A (p.His178Gln) n.605T>A | |
| 5 | g.78964573T>A | CA360193403 | ARSB | c.533A>T (p.His178Leu) n.604A>T | ClinVar dbSNP |
| 5 | g.78964573T>C | CA360193402 | ARSB | c.533A>G (p.His178Arg) n.604A>G | |
| 5 | g.78964573T>G | CA360193401 | ARSB | c.533A>C (p.His178Pro) n.604A>C | |
| 5 | g.78964573T= | CA1557701774 | ARSB | c.533A= (p.His178=) n.604A= | |
| 5 | g.78964573_78964574delinsCA | CA2573139971 | ARSB | c.532_533delinsTG (p.His178Cys) n.603_604delinsTG | ClinVar |
| 5 | g.78964574G>A | CA360193404 | ARSB | c.532C>T (p.His178Tyr) n.603C>T | |
| 5 | g.78964574G>C | CA360193405 | ARSB | c.532C>G (p.His178Asp) n.603C>G | ClinVar dbSNP |
| 5 | g.78964574G= | CA1557701775 | ARSB | c.532C= (p.His178=) n.603C= | |
| 5 | g.78964574G>T | CA360193406 | ARSB | c.532C>A (p.His178Asn) n.603C>A | |
| 5 | g.78964576del | CA2674368566 | ARSB | c.532del (p.His178MetfsTer6) n.603del | gnomAD v4 |
| 5 | g.78964575G>A | CA445102313 | ARSB | c.531C>T (p.Ser177=) n.602C>T | ClinVar dbSNP |
| 5 | g.78964575G>C | CA121104273 | ARSB | c.531C>G (p.Ser177=) n.602C>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964575G= | CA1557701776 | ARSB | c.531C= (p.Ser177=) n.602C= | |
| 5 | g.78964575G>T | CA445102315 | ARSB | c.531C>A (p.Ser177=) n.602C>A | gnomAD v4 |
| 5 | g.78964576G>A | CA360193407 | ARSB | c.530C>T (p.Ser177Phe) n.601C>T | COSMIC COSMIC |
| 5 | g.78964576G>C | CA360193408 | ARSB | c.530C>G (p.Ser177Cys) n.601C>G | |
| 5 | g.78964576G>T | CA360193409 | ARSB | c.530C>A (p.Ser177Tyr) n.601C>A | |
| 5 | g.78964577A>C | CA360193410 | ARSB | c.529T>G (p.Ser177Ala) n.600T>G | gnomAD v4 |
| 5 | g.78964577A>G | CA360193411 | ARSB | c.529T>C (p.Ser177Pro) n.600T>C | gnomAD v4 |
| 5 | g.78964577A>T | CA360193412 | ARSB | c.529T>A (p.Ser177Thr) n.600T>A | |
| 5 | g.78964578A>C | CA360193413 | ARSB | c.528T>G (p.Tyr176Ter) n.599T>G | |
| 5 | g.78964578A>G | CA445102319 | ARSB | c.528T>C (p.Tyr176=) n.599T>C | gnomAD v4 |
| 5 | g.78964578A>T | CA360193414 | ARSB | c.528T>A (p.Tyr176Ter) n.599T>A | |
| 5 | g.78964579T>A | CA360193417 | ARSB | c.527A>T (p.Tyr176Phe) n.598A>T | |
| 5 | g.78964579T>C | CA360193416 | ARSB | c.527A>G (p.Tyr176Cys) n.598A>G | |
| 5 | g.78964579T>G | CA360193415 | ARSB | c.527A>C (p.Tyr176Ser) n.598A>C | |
| 5 | g.78964580A>C | CA360193418 | ARSB | c.526T>G (p.Tyr176Asp) n.597T>G | |
| 5 | g.78964580A>G | CA360193419 | ARSB | c.526T>C (p.Tyr176His) n.597T>C | |
| 5 | g.78964580A>T | CA360193420 | ARSB | c.526T>A (p.Tyr176Asn) n.597T>A | |
| 5 | g.78964581A>C | CA360193421 | ARSB | c.525T>G (p.Tyr175Ter) n.596T>G | |
| 5 | g.78964581A>G | CA445102327 | ARSB | c.525T>C (p.Tyr175=) n.596T>C | |
| 5 | g.78964581A>T | CA360193422 | ARSB | c.525T>A (p.Tyr175Ter) n.596T>A | |
| 5 | g.78964582T>A | CA360193423 | ARSB | c.524A>T (p.Tyr175Phe) n.595A>T | |
| 5 | g.78964582T>C | CA360193424 | ARSB | c.524A>G (p.Tyr175Cys) n.595A>G | |
| 5 | g.78964582T>G | CA360193425 | ARSB | c.524A>C (p.Tyr175Ser) n.595A>C | |
| 5 | g.78964583A= | CA1557701777 | ARSB | c.523T= (p.Tyr175=) n.594T= | |
| 5 | g.78964583A>C | CA121104287 | ARSB | c.523T>G (p.Tyr175Asp) n.594T>G | ClinVar dbSNP |
| 5 | g.78964583A>G | CA3318238 | ARSB | c.523T>C (p.Tyr175His) n.594T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964583A>T | CA360193426 | ARSB | c.523T>A (p.Tyr175Asn) n.594T>A | |
| 5 | g.78964584A>C | CA360193427 | ARSB | c.522T>G (p.Asp174Glu) n.593T>G | |
| 5 | g.78964584A>G | CA445102335 | ARSB | c.522T>C (p.Asp174=) n.593T>C | |
| 5 | g.78964584A>T | CA360193428 | ARSB | c.522T>A (p.Asp174Glu) n.593T>A | |
| 5 | g.78964585T>A | CA360193430 | ARSB | c.521A>T (p.Asp174Val) n.592A>T | |
| 5 | g.78964585T>C | CA360193431 | ARSB | c.521A>G (p.Asp174Gly) n.592A>G | |
| 5 | g.78964585T>G | CA360193429 | ARSB | c.521A>C (p.Asp174Ala) n.592A>C | |
| 5 | g.78964586C>A | CA360193433 | ARSB | c.520G>T (p.Asp174Tyr) n.591G>T | |
| 5 | g.78964586C= | CA1557701778 | ARSB | c.520G= (p.Asp174=) n.591G= | |
| 5 | g.78964586C>G | CA360193432 | ARSB | c.520G>C (p.Asp174His) n.591G>C | gnomAD v4 |
| 5 | g.78964586C>T | CA121104308 | ARSB | c.520G>A (p.Asp174Asn) n.591G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964587T>A | CA360193434 | ARSB | c.519A>T (p.Glu173Asp) n.590A>T | |
| 5 | g.78964587T>C | CA445102344 | ARSB | c.519A>G (p.Glu173=) n.590A>G | gnomAD v4 |
| 5 | g.78964587T>G | CA360193435 | ARSB | c.519A>C (p.Glu173Asp) n.590A>C |