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 |
|---|---|---|---|---|---|
| 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 | |
| 5 | g.78964588T>A | CA360193436 | ARSB | c.518A>T (p.Glu173Val) n.589A>T | |
| 5 | g.78964588T>C | CA360193437 | ARSB | c.518A>G (p.Glu173Gly) n.589A>G | dbSNP COSMIC |
| 5 | g.78964588T>G | CA360193438 | ARSB | c.518A>C (p.Glu173Ala) n.589A>C | |
| 5 | g.78964588T= | CA1557701779 | ARSB | c.518A= (p.Glu173=) n.589A= | |
| 5 | g.78964589C>A | CA360193441 | ARSB | c.517G>T (p.Glu173Ter) n.588G>T | |
| 5 | g.78964589C>G | CA360193439 | ARSB | c.517G>C (p.Glu173Gln) n.588G>C | |
| 5 | g.78964589C>T | CA360193440 | ARSB | c.517G>A (p.Glu173Lys) n.588G>A | |
| 5 | g.78964590A>C | CA360193442 | ARSB | c.516T>G (p.Ser172Arg) n.587T>G | |
| 5 | g.78964590A>G | CA445102353 | ARSB | c.516T>C (p.Ser172=) n.587T>C | |
| 5 | g.78964590A>T | CA360193443 | ARSB | c.516T>A (p.Ser172Arg) n.587T>A | |
| 5 | g.78964591C>A | CA360193444 | ARSB | c.515G>T (p.Ser172Ile) n.586G>T | |
| 5 | g.78964591C>G | CA360193445 | ARSB | c.515G>C (p.Ser172Thr) n.586G>C | |
| 5 | g.78964591C>T | CA360193446 | ARSB | c.515G>A (p.Ser172Asn) n.586G>A | |
| 5 | g.78964592T>A | CA360193447 | ARSB | c.514A>T (p.Ser172Cys) n.585A>T | |
| 5 | g.78964592T>C | CA360193449 | ARSB | c.514A>G (p.Ser172Gly) n.585A>G | |
| 5 | g.78964592T>G | CA360193448 | ARSB | c.514A>C (p.Ser172Arg) n.585A>C | |
| 5 | g.78964593A>C | CA445102360 | ARSB | c.513T>G (p.Gly171=) n.584T>G | |
| 5 | g.78964593A>G | CA445102362 | ARSB | c.513T>C (p.Gly171=) n.584T>C | |
| 5 | g.78964593A>T | CA445102364 | ARSB | c.513T>A (p.Gly171=) n.584T>A | |
| 5 | g.78964594C>A | CA360193450 | ARSB | c.512G>T (p.Gly171Val) n.583G>T | |
| 5 | g.78964594C>G | CA360193451 | ARSB | c.512G>C (p.Gly171Ala) n.583G>C | |
| 5 | g.78964594C>T | CA360193452 | ARSB | c.512G>A (p.Gly171Asp) n.583G>A | |
| 5 | g.78964595_78964596del | CA2695204617 | ARSB | c.511_512del (p.Gly171Ter) n.582_583del | |
| 5 | g.78964595C>A | CA360193453 | ARSB | c.511G>T (p.Gly171Cys) n.582G>T | |
| 5 | g.78964595C= | CA1557701780 | ARSB | c.511G= (p.Gly171=) n.582G= | |
| 5 | g.78964595C>G | CA360193454 | ARSB | c.511G>C (p.Gly171Arg) n.582G>C | |
| 5 | g.78964595C>T | CA360193455 | ARSB | c.511G>A (p.Gly171Ser) n.582G>A | ClinVar dbSNP |
| 5 | g.78964596C>A | CA445102370 | ARSB | c.510G>T (p.Leu170=) n.581G>T | |
| 5 | g.78964596C= | CA1557701781 | ARSB | c.510G= (p.Leu170=) n.581G= | |
| 5 | g.78964596C>G | CA3318239 | ARSB | c.510G>C (p.Leu170=) n.581G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964596C>T | CA445102373 | ARSB | c.510G>A (p.Leu170=) n.581G>A | |
| 5 | g.78964597A= | CA1557701782 | ARSB | c.509T= (p.Leu170=) n.580T= | |
| 5 | g.78964597A>C | CA360193456 | ARSB | c.509T>G (p.Leu170Arg) n.580T>G | ClinVar dbSNP |
| 5 | g.78964597A>G | CA360193457 | ARSB | c.509T>C (p.Leu170Pro) n.580T>C | |
| 5 | g.78964597A>T | CA360193458 | ARSB | c.509T>A (p.Leu170Gln) n.580T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964598G>A | CA445102377 | ARSB | c.508C>T (p.Leu170=) n.579C>T | |
| 5 | g.78964598G>C | CA360193459 | ARSB | c.508C>G (p.Leu170Val) n.579C>G | |
| 5 | g.78964598G>T | CA360193460 | ARSB | c.508C>A (p.Leu170Met) n.579C>A | |
| 5 | g.78964599G>A | CA445102379 | ARSB | c.507C>T (p.Leu169=) n.578C>T | |
| 5 | g.78964599G>C | CA445102383 | ARSB | c.507C>G (p.Leu169=) n.578C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964599G= | CA1557701783 | ARSB | c.507C= (p.Leu169=) n.578C= | |
| 5 | g.78964599G>T | CA445102381 | ARSB | c.507C>A (p.Leu169=) n.578C>A | |
| 5 | g.78964600A>C | CA360193461 | ARSB | c.506T>G (p.Leu169Arg) n.577T>G | |
| 5 | g.78964600A>G | CA360193463 | ARSB | c.506T>C (p.Leu169Pro) n.577T>C | |
| 5 | g.78964600A>T | CA360193462 | ARSB | c.506T>A (p.Leu169His) n.577T>A | |
| 5 | g.78964601G>A | CA360193464 | ARSB | c.505C>T (p.Leu169Phe) n.576C>T | gnomAD v4 |
| 5 | g.78964601G>C | CA360193465 | ARSB | c.505C>G (p.Leu169Val) n.576C>G | |
| 5 | g.78964601G>T | CA360193466 | ARSB | c.505C>A (p.Leu169Ile) n.576C>A | |
| 5 | g.78964602A>C | CA360193467 | ARSB | c.504T>G (p.Tyr168Ter) n.575T>G | |
| 5 | g.78964602A>G | CA445102388 | ARSB | c.504T>C (p.Tyr168=) n.575T>C | |
| 5 | g.78964602A>T | CA360193468 | ARSB | c.504T>A (p.Tyr168Ter) n.575T>A | |
| 5 | g.78964603T>A | CA360193469 | ARSB | c.503A>T (p.Tyr168Phe) n.574A>T | |
| 5 | g.78964603T>C | CA360193470 | ARSB | c.503A>G (p.Tyr168Cys) n.574A>G | COSMIC COSMIC |
| 5 | g.78964603T>G | CA360193471 | ARSB | c.503A>C (p.Tyr168Ser) n.574A>C | |
| 5 | g.78964604A>C | CA360193472 | ARSB | c.502T>G (p.Tyr168Asp) n.573T>G | gnomAD v4 |
| 5 | g.78964604A>G | CA360193473 | ARSB | c.502T>C (p.Tyr168His) n.573T>C | |
| 5 | g.78964604A>T | CA360193474 | ARSB | c.502T>A (p.Tyr168Asn) n.573T>A | |
| 5 | g.78964605T>A | CA445102398 | ARSB | c.501A>T (p.Gly167=) n.572A>T | gnomAD v4 |
| 5 | g.78964605T>C | CA3318240 | ARSB | c.501A>G (p.Gly167=) n.572A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964605T>G | CA445102400 | ARSB | c.501A>C (p.Gly167=) n.572A>C | gnomAD v4 |
| 5 | g.78964605T= | CA1557701784 | ARSB | c.501A= (p.Gly167=) n.572A= | |
| 5 | g.78964606C>A | CA3318241 | ARSB | c.500G>T (p.Gly167Val) n.571G>T | dbSNP ExAC gnomAD v2 |
| 5 | g.78964606C= | CA1557701785 | ARSB | c.500G= (p.Gly167=) n.571G= | |
| 5 | g.78964606C>G | CA360193476 | ARSB | c.500G>C (p.Gly167Ala) n.571G>C | |
| 5 | g.78964606C>T | CA360193475 | ARSB | c.500G>A (p.Gly167Glu) n.571G>A | |
| 5 | g.78964607C>A | CA360193477 | ARSB | c.500-1G>T (n.500-1G>T) n.571-1G>T | |
| 5 | g.78964607C>G | CA360193478 | ARSB | c.500-1G>C (n.500-1G>C) n.571-1G>C | |
| 5 | g.78964607C>T | CA360193479 | ARSB | c.500-1G>A (n.500-1G>A) n.571-1G>A | gnomAD v4 |
| 5 | g.78964608T>A | CA360193480 | ARSB | c.500-2A>T (n.500-2A>T) n.571-2A>T | |
| 5 | g.78964608T>C | CA360193481 | ARSB | c.500-2A>G (n.500-2A>G) n.571-2A>G | |
| 5 | g.78964608T>G | CA360193482 | ARSB | c.500-2A>C (n.500-2A>C) n.571-2A>C | |
| 5 | g.78964609G>A | CA2674368567 | ARSB | c.500-3C>T (n.500-3C>T) n.571-3C>T | gnomAD v4 |
| 5 | g.78964609G>C | CA2674368568 | ARSB | c.500-3C>G (n.500-3C>G) n.571-3C>G | gnomAD v4 |
| 5 | g.78964609G= | CA1557701786 | ARSB | c.500-3C= (n.500-3C=) n.571-3C= | |
| 5 | g.78964609G>T | CA3318242 | ARSB | c.500-3C>A (n.500-3C>A) n.571-3C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964610C>A | CA2573139973 | ARSB | c.500-4G>T (n.500-4G>T) n.571-4G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964610C>T | CA2573139972 | ARSB | c.500-4G>A (n.500-4G>A) n.571-4G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964612A>C | CA2674368569 | ARSB | c.500-6T>G (n.500-6T>G) n.571-6T>G | gnomAD v4 |
| 5 | g.78964613G= | CA1557701787 | ARSB | c.500-7C= (n.500-7C=) n.571-7C= | |
| 5 | g.78964613G>T | CA814294786 | ARSB | c.500-7C>A (n.500-7C>A) n.571-7C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964614A>T | CA2580073471 | ARSB | c.500-8T>A (n.500-8T>A) n.571-8T>A | ClinVar |
| 5 | g.78964616T>A | CA2580073472 | ARSB | c.500-10A>T (n.500-10A>T) n.571-10A>T | ClinVar |
| 5 | g.78964616T>C | CA2499217921 | ARSB | c.500-10A>G (n.500-10A>G) n.571-10A>G | ClinVar dbSNP |
| 5 | g.78964617G>A | CA2674368570 | ARSB | c.500-11C>T (n.500-11C>T) n.571-11C>T | ClinVar gnomAD v4 |
| 5 | g.78964617G>T | CA2674368571 | ARSB | c.500-11C>A (n.500-11C>A) n.571-11C>A | gnomAD v4 |
| 5 | g.78964618G>T | CA2674368572 | ARSB | c.500-12C>A (n.500-12C>A) n.571-12C>A | gnomAD v4 |
| 5 | g.78964621G>T | CA2674368573 | ARSB | c.500-15C>A (n.500-15C>A) n.571-15C>A | gnomAD v4 |
| 5 | g.78964623C>A | CA3318244 | ARSB | c.500-17G>T (n.500-17G>T) n.571-17G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964623C= | CA1557701788 | ARSB | c.500-17G= (n.500-17G=) n.571-17G= | |
| 5 | g.78964623C>T | CA3318243 | ARSB | c.500-17G>A (n.500-17G>A) n.571-17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78964624G>A | CA3318245 | ARSB | c.500-18C>T (n.500-18C>T) n.571-18C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964624G= | CA1557701789 | ARSB | c.500-18C= (n.500-18C=) n.571-18C= | |
| 5 | g.78964628del | CA2674368574 | ARSB | c.500-19del (n.500-19del) n.571-19del | gnomAD v4 |
| 5 | g.78964629T>C | CA2674368575 | ARSB | c.500-23A>G (n.500-23A>G) n.571-23A>G | gnomAD v4 |
| 5 | g.78964629_78964633delinsTAGTC | CA1557701790 | ARSB | c.500-27_500-23delinsGACTA (n.500-27_500-23delinsGACTA) n.571-27_571-23delinsGACTA | |
| 5 | g.78964632_78964635del | CA3318246 | ARSB | c.500-27_500-24del (n.500-27_500-24del) n.571-27_571-24del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964631G>T | CA2674368576 | ARSB | c.500-25C>A (n.500-25C>A) n.571-25C>A | gnomAD v4 |
| 5 | g.78964634A>G | CA2767134604 | ARSB | c.500-28T>C (n.500-28T>C) n.571-28T>C | |
| 5 | g.78964635G>T | CA2674368577 | ARSB | c.500-29C>A (n.500-29C>A) n.571-29C>A | gnomAD v4 |
| 5 | g.78964636C= | CA1557701791 | ARSB | c.500-30G= (n.500-30G=) n.571-30G= | |
| 5 | g.78964636C>T | CA1557701792 | ARSB | c.500-30G>A (n.500-30G>A) n.571-30G>A | dbSNP |
| 5 | g.78964638T>C | CA814294795 | ARSB | c.500-32A>G (n.500-32A>G) n.571-32A>G | dbSNP |
| 5 | g.78964638T= | CA1557701793 | ARSB | c.500-32A= (n.500-32A=) n.571-32A= | |
| 5 | g.78964639A>G | CA2674368578 | ARSB | c.500-33T>C (n.500-33T>C) n.571-33T>C | gnomAD v4 |
| 5 | g.78964640G>C | CA2674368579 | ARSB | c.500-34C>G (n.500-34C>G) n.571-34C>G | gnomAD v4 |
| 5 | g.78964640G>T | CA2674368580 | ARSB | c.500-34C>A (n.500-34C>A) n.571-34C>A | gnomAD v4 |
| 5 | g.78964641C>T | CA2767134627 | ARSB | c.500-35G>A (n.500-35G>A) n.571-35G>A | |
| 5 | g.78964643T>C | CA560767933 | ARSB | c.500-37A>G (n.500-37A>G) n.571-37A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964643T= | CA1557701794 | ARSB | c.500-37A= (n.500-37A=) n.571-37A= | |
| 5 | g.78964644A>G | CA2674368581 | ARSB | c.500-38T>C (n.500-38T>C) n.571-38T>C | gnomAD v4 |
| 5 | g.78964645A= | CA1557701795 | ARSB | c.500-39T= (n.500-39T=) n.571-39T= | |
| 5 | g.78964645A>G | CA560767935 | ARSB | c.500-39T>C (n.500-39T>C) n.571-39T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964647A= | CA1557701796 | ARSB | c.500-41T= (n.500-41T=) n.571-41T= | |
| 5 | g.78964647A>T | CA814294803 | ARSB | c.500-41T>A (n.500-41T>A) n.571-41T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964648C= | CA1557701797 | ARSB | c.500-42G= (n.500-42G=) n.571-42G= | |
| 5 | g.78964648C>G | CA3318247 | ARSB | c.500-42G>C (n.500-42G>C) n.571-42G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964648C>T | CA560767937 | ARSB | c.500-42G>A (n.500-42G>A) n.571-42G>A | dbSNP gnomAD v2 gnomAD v4 |