| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78969022T>A | CA445103252 | ARSB | c.483A>T (p.Gly161=) n.554A>T | |
| 5 | g.78969022T>C | CA445103254 | ARSB | c.483A>G (p.Gly161=) n.554A>G | |
| 5 | g.78969022T>G | CA445103257 | ARSB | c.483A>C (p.Gly161=) n.554A>C | |
| 5 | g.78969023C>A | CA360193881 | ARSB | c.482G>T (p.Gly161Val) n.553G>T | dbSNP |
| 5 | g.78969023C= | CA1557703740 | ARSB | c.482G= (p.Gly161=) n.553G= | |
| 5 | g.78969023C>G | CA360193883 | ARSB | c.482G>C (p.Gly161Ala) n.553G>C | |
| 5 | g.78969023C>T | CA360193885 | ARSB | c.482G>A (p.Gly161Glu) n.553G>A | dbSNP |
| 5 | g.78969024C>A | CA360193886 | ARSB | c.481G>T (p.Gly161Ter) n.552G>T | |
| 5 | g.78969024C>G | CA360193887 | ARSB | c.481G>C (p.Gly161Arg) n.552G>C | |
| 5 | g.78969024C>T | CA360193888 | ARSB | c.481G>A (p.Gly161Arg) n.552G>A | |
| 5 | g.78969025T>A | CA445103264 | ARSB | c.480A>T (p.Arg160=) n.551A>T | |
| 5 | g.78969025T>C | CA445103266 | ARSB | c.480A>G (p.Arg160=) n.551A>G | ClinVar dbSNP |
| 5 | g.78969025T>G | CA445103267 | ARSB | c.480A>C (p.Arg160=) n.551A>C | |
| 5 | g.78969026C>A | CA360193890 | ARSB | c.479G>T (p.Arg160Leu) n.550G>T | |
| 5 | g.78969026C= | CA1557703741 | ARSB | c.479G= (p.Arg160=) n.550G= | |
| 5 | g.78969026C>G | CA360193892 | ARSB | c.479G>C (p.Arg160Pro) n.550G>C | |
| 5 | g.78969026C>T | CA360193893 | ARSB | c.479G>A (p.Arg160Gln) n.550G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969027G>A | CA360193894 | ARSB | c.478C>T (p.Arg160Ter) n.549C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969027G>C | CA360193896 | ARSB | c.478C>G (p.Arg160Gly) n.549C>G | ClinVar |
| 5 | g.78969027G= | CA1557703742 | ARSB | c.478C= (p.Arg160=) n.549C= | |
| 5 | g.78969027G>T | CA445103273 | ARSB | c.478C>A (p.Arg160=) n.549C>A | |
| 5 | g.78969028G>A | CA121107721 | ARSB | c.477C>T (p.Arg159=) n.548C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969028G>C | CA445103275 | ARSB | c.477C>G (p.Arg159=) n.548C>G | |
| 5 | g.78969028G= | CA1557703743 | ARSB | c.477C= (p.Arg159=) n.548C= | |
| 5 | g.78969028G>T | CA445103276 | ARSB | c.477C>A (p.Arg159=) n.548C>A | |
| 5 | g.78969029C>A | CA3318260 | ARSB | c.476G>T (p.Arg159Leu) n.547G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969029C= | CA1557703744 | ARSB | c.476G= (p.Arg159=) n.547G= | |
| 5 | g.78969029C>G | CA360193898 | ARSB | c.476G>C (p.Arg159Pro) n.547G>C | |
| 5 | g.78969029C>T | CA3318261 | ARSB | c.476G>A (p.Arg159His) n.547G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969030G>A | CA3318262 | ARSB | c.475C>T (p.Arg159Cys) n.546C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969030G>C | CA360193903 | ARSB | c.475C>G (p.Arg159Gly) n.546C>G | dbSNP gnomAD v4 |
| 5 | g.78969030G= | CA1557703745 | ARSB | c.475C= (p.Arg159=) n.546C= | |
| 5 | g.78969030G>T | CA360193901 | ARSB | c.475C>A (p.Arg159Ser) n.546C>A | |
| 5 | g.78969031G>A | CA121107772 | ARSB | c.474C>T (p.Thr158=) n.545C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969031G>C | CA445103283 | ARSB | c.474C>G (p.Thr158=) n.545C>G | |
| 5 | g.78969031G= | CA1557703746 | ARSB | c.474C= (p.Thr158=) n.545C= | |
| 5 | g.78969031G>T | CA445103284 | ARSB | c.474C>A (p.Thr158=) n.545C>A | |
| 5 | g.78969032G>A | CA360193904 | ARSB | c.473C>T (p.Thr158Ile) n.544C>T | |
| 5 | g.78969032G>C | CA360193905 | ARSB | c.473C>G (p.Thr158Ser) n.544C>G | |
| 5 | g.78969032G>T | CA360193907 | ARSB | c.473C>A (p.Thr158Asn) n.544C>A | |
| 5 | g.78969033T>A | CA360193909 | ARSB | c.472A>T (p.Thr158Ser) n.543A>T | |
| 5 | g.78969033T>C | CA3318263 | ARSB | c.472A>G (p.Thr158Ala) n.543A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969033T>G | CA360193912 | ARSB | c.472A>C (p.Thr158Pro) n.543A>C | |
| 5 | g.78969033T= | CA1557703747 | ARSB | c.472A= (p.Thr158=) n.543A= | |
| 5 | g.78969034T>A | CA445103294 | ARSB | c.471A>T (p.Pro157=) n.542A>T | |
| 5 | g.78969034T>C | CA445103295 | ARSB | c.471A>G (p.Pro157=) n.542A>G | |
| 5 | g.78969034T>G | CA445103292 | ARSB | c.471A>C (p.Pro157=) n.542A>C | |
| 5 | g.78969035G>A | CA360193914 | ARSB | c.470C>T (p.Pro157Leu) n.541C>T | |
| 5 | g.78969035G>C | CA360193915 | ARSB | c.470C>G (p.Pro157Arg) n.541C>G | gnomAD v4 |
| 5 | g.78969035G>T | CA360193917 | ARSB | c.470C>A (p.Pro157Gln) n.541C>A | |
| 5 | g.78969036G>A | CA360193920 | ARSB | c.469C>T (p.Pro157Ser) n.540C>T | |
| 5 | g.78969036G>C | CA360193921 | ARSB | c.469C>G (p.Pro157Ala) n.540C>G | |
| 5 | g.78969036G>T | CA360193922 | ARSB | c.469C>A (p.Pro157Thr) n.540C>A | |
| 5 | g.78969037A>C | CA445103310 | ARSB | c.468T>G (p.Leu156=) n.539T>G | |
| 5 | g.78969037A>G | CA445103308 | ARSB | c.468T>C (p.Leu156=) n.539T>C | |
| 5 | g.78969037A>T | CA445103306 | ARSB | c.468T>A (p.Leu156=) n.539T>A | |
| 5 | g.78969038del | CA2499217922 | ARSB | c.468del (p.Pro157GlnfsTer27) n.539del | ClinVar dbSNP |
| 5 | g.78969038A>C | CA360193927 | ARSB | c.467T>G (p.Leu156Arg) n.538T>G | |
| 5 | g.78969038A>G | CA360193926 | ARSB | c.467T>C (p.Leu156Pro) n.538T>C | |
| 5 | g.78969038A>T | CA360193925 | ARSB | c.467T>A (p.Leu156His) n.538T>A | |
| 5 | g.78969039G>A | CA360193929 | ARSB | c.466C>T (p.Leu156Phe) n.537C>T | gnomAD v4 |
| 5 | g.78969039G>C | CA360193931 | ARSB | c.466C>G (p.Leu156Val) n.537C>G | |
| 5 | g.78969039G>T | CA360193932 | ARSB | c.466C>A (p.Leu156Ile) n.537C>A | |
| 5 | g.78969040G>A | CA445103316 | ARSB | c.465C>T (p.Cys155=) n.536C>T | |
| 5 | g.78969040G>C | CA360193933 | ARSB | c.465C>G (p.Cys155Trp) n.536C>G | |
| 5 | g.78969040G>T | CA360193934 | ARSB | c.465C>A (p.Cys155Ter) n.536C>A | |
| 5 | g.78969041C>A | CA360193936 | ARSB | c.464G>T (p.Cys155Phe) n.535G>T | dbSNP |
| 5 | g.78969041C= | CA1557703748 | ARSB | c.464G= (p.Cys155=) n.535G= | |
| 5 | g.78969041C>G | CA360193937 | ARSB | c.464G>C (p.Cys155Ser) n.535G>C | |
| 5 | g.78969041C>T | CA360193938 | ARSB | c.464G>A (p.Cys155Tyr) n.535G>A | ClinVar dbSNP |
| 5 | g.78969042A>C | CA360193940 | ARSB | c.463T>G (p.Cys155Gly) n.534T>G | |
| 5 | g.78969042A>G | CA360193942 | ARSB | c.463T>C (p.Cys155Arg) n.534T>C | |
| 5 | g.78969042A>T | CA360193944 | ARSB | c.463T>A (p.Cys155Ser) n.534T>A | |
| 5 | g.78969043T>A | CA360193945 | ARSB | c.462A>T (p.Glu154Asp) n.533A>T | dbSNP |
| 5 | g.78969043T>C | CA445103319 | ARSB | c.462A>G (p.Glu154=) n.533A>G | gnomAD v4 |
| 5 | g.78969043T>G | CA360193947 | ARSB | c.462A>C (p.Glu154Asp) n.533A>C | |
| 5 | g.78969043T= | CA1557703749 | ARSB | c.462A= (p.Glu154=) n.533A= | |
| 5 | g.78969044T>A | CA360193951 | ARSB | c.461A>T (p.Glu154Val) n.532A>T | |
| 5 | g.78969044T>C | CA360193952 | ARSB | c.461A>G (p.Glu154Gly) n.532A>G | |
| 5 | g.78969044T>G | CA360193949 | ARSB | c.461A>C (p.Glu154Ala) n.532A>C | |
| 5 | g.78969045C>A | CA360193956 | ARSB | c.460G>T (p.Glu154Ter) n.531G>T | gnomAD v4 |
| 5 | g.78969045C>G | CA360193955 | ARSB | c.460G>C (p.Glu154Gln) n.531G>C | |
| 5 | g.78969045C>T | CA360193957 | ARSB | c.460G>A (p.Glu154Lys) n.531G>A | gnomAD v4 COSMIC COSMIC |
| 5 | g.78969046T>A | CA360193959 | ARSB | c.459A>T (p.Lys153Asn) n.530A>T | COSMIC COSMIC |
| 5 | g.78969046T>C | CA445103326 | ARSB | c.459A>G (p.Lys153=) n.530A>G | dbSNP |
| 5 | g.78969046T>G | CA360193960 | ARSB | c.459A>C (p.Lys153Asn) n.530A>C | |
| 5 | g.78969046T= | CA1557703750 | ARSB | c.459A= (p.Lys153=) n.530A= | |
| 5 | g.78969047T>A | CA360193962 | ARSB | c.458A>T (p.Lys153Ile) n.529A>T | |
| 5 | g.78969047T>C | CA360193966 | ARSB | c.458A>G (p.Lys153Arg) n.529A>G | dbSNP |
| 5 | g.78969047T>G | CA360193964 | ARSB | c.458A>C (p.Lys153Thr) n.529A>C | |
| 5 | g.78969047T= | CA1557703751 | ARSB | c.458A= (p.Lys153=) n.529A= | |
| 5 | g.78969048T>A | CA360193967 | ARSB | c.457A>T (p.Lys153Ter) n.528A>T | |
| 5 | g.78969048T>C | CA360193971 | ARSB | c.457A>G (p.Lys153Glu) n.528A>G | |
| 5 | g.78969048T>G | CA360193969 | ARSB | c.457A>C (p.Lys153Gln) n.528A>C | |
| 5 | g.78969049C>A | CA3318264 | ARSB | c.456G>T (p.Arg152=) n.527G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969049C= | CA1557703752 | ARSB | c.456G= (p.Arg152=) n.527G= | |
| 5 | g.78969049C>G | CA445103338 | ARSB | c.456G>C (p.Arg152=) n.527G>C | |
| 5 | g.78969049C>T | CA445103340 | ARSB | c.456G>A (p.Arg152=) n.527G>A | gnomAD v4 |
| 5 | g.78969050C>A | CA360193975 | ARSB | c.455G>T (p.Arg152Leu) n.526G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969050C= | CA1557703753 | ARSB | c.455G= (p.Arg152=) n.526G= | |
| 5 | g.78969050C>G | CA360193974 | ARSB | c.455G>C (p.Arg152Pro) n.526G>C | |
| 5 | g.78969050C>T | CA3318265 | ARSB | c.455G>A (p.Arg152Gln) n.526G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969051G>A | CA121107804 | ARSB | c.454C>T (p.Arg152Trp) n.525C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.78969051G>C | CA360193978 | ARSB | c.454C>G (p.Arg152Gly) n.525C>G | dbSNP |
| 5 | g.78969051G= | CA1557703754 | ARSB | c.454C= (p.Arg152=) n.525C= | |
| 5 | g.78969051G>T | CA445103351 | ARSB | c.454C>A (p.Arg152=) n.525C>A | |
| 5 | g.78969052G>A | CA445103352 | ARSB | c.453C>T (p.Tyr151=) n.524C>T | COSMIC COSMIC |
| 5 | g.78969052G>C | CA360193980 | ARSB | c.453C>G (p.Tyr151Ter) n.524C>G | |
| 5 | g.78969052G>T | CA360193981 | ARSB | c.453C>A (p.Tyr151Ter) n.524C>A | |
| 5 | g.78969053T>A | CA360193983 | ARSB | c.452A>T (p.Tyr151Phe) n.523A>T | |
| 5 | g.78969053T>C | CA360193985 | ARSB | c.452A>G (p.Tyr151Cys) n.523A>G | |
| 5 | g.78969053T>G | CA360193987 | ARSB | c.452A>C (p.Tyr151Ser) n.523A>C | |
| 5 | g.78969054A>C | CA360193988 | ARSB | c.451T>G (p.Tyr151Asp) n.522T>G | |
| 5 | g.78969054A>G | CA360193989 | ARSB | c.451T>C (p.Tyr151His) n.522T>C | |
| 5 | g.78969054A>T | CA360193991 | ARSB | c.451T>A (p.Tyr151Asn) n.522T>A | |
| 5 | g.78969055C>A | CA360193993 | ARSB | c.450G>T (p.Met150Ile) n.521G>T | |
| 5 | g.78969055C= | CA1557703755 | ARSB | c.450G= (p.Met150=) n.521G= | |
| 5 | g.78969055C>G | CA360193995 | ARSB | c.450G>C (p.Met150Ile) n.521G>C | |
| 5 | g.78969055C>T | CA360193996 | ARSB | c.450G>A (p.Met150Ile) n.521G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969056A= | CA1557703756 | ARSB | c.449T= (p.Met150=) n.520T= | |
| 5 | g.78969056A>C | CA360194002 | ARSB | c.449T>G (p.Met150Arg) n.520T>G | dbSNP |
| 5 | g.78969056A>G | CA360194000 | ARSB | c.449T>C (p.Met150Thr) n.520T>C | gnomAD v4 |
| 5 | g.78969056A>T | CA360193998 | ARSB | c.449T>A (p.Met150Lys) n.520T>A | |
| 5 | g.78969057T>A | CA360194003 | ARSB | c.448A>T (p.Met150Leu) n.519A>T | COSMIC |
| 5 | g.78969057T>C | CA121107818 | ARSB | c.448A>G (p.Met150Val) n.519A>G | ClinVar dbSNP |
| 5 | g.78969057T>G | CA360194005 | ARSB | c.448A>C (p.Met150Leu) n.519A>C | |
| 5 | g.78969057T= | CA1557703757 | ARSB | c.448A= (p.Met150=) n.519A= | |
| 5 | g.78969058T>A | CA445103375 | ARSB | c.447A>T (p.Gly149=) n.518A>T | |
| 5 | g.78969058T>C | CA445103376 | ARSB | c.447A>G (p.Gly149=) n.518A>G | |
| 5 | g.78969058T>G | CA445103377 | ARSB | c.447A>C (p.Gly149=) n.518A>C | |
| 5 | g.78969059C>A | CA360194007 | ARSB | c.446G>T (p.Gly149Val) n.517G>T | gnomAD v4 |
| 5 | g.78969059C>G | CA360194008 | ARSB | c.446G>C (p.Gly149Ala) n.517G>C | |
| 5 | g.78969059C>T | CA360194010 | ARSB | c.446G>A (p.Gly149Glu) n.517G>A | gnomAD v4 |
| 5 | g.78969060C>A | CA360194012 | ARSB | c.445G>T (p.Gly149Ter) n.516G>T | |
| 5 | g.78969060C= | CA1557703758 | ARSB | c.445G= (p.Gly149=) n.516G= | |
| 5 | g.78969060C>G | CA360194013 | ARSB | c.445G>C (p.Gly149Arg) n.516G>C | dbSNP gnomAD v2 |
| 5 | g.78969060C>T | CA360194015 | ARSB | c.445G>A (p.Gly149Arg) n.516G>A | |
| 5 | g.78969061C>A | CA445103384 | ARSB | c.444G>T (p.Leu148=) n.515G>T | |
| 5 | g.78969061C>G | CA445103388 | ARSB | c.444G>C (p.Leu148=) n.515G>C | |
| 5 | g.78969061C>T | CA445103390 | ARSB | c.444G>A (p.Leu148=) n.515G>A | |
| 5 | g.78969062A>C | CA360194017 | ARSB | c.443T>G (p.Leu148Arg) n.514T>G | |
| 5 | g.78969062A>G | CA360194018 | ARSB | c.443T>C (p.Leu148Pro) n.514T>C | |
| 5 | g.78969062A>T | CA360194020 | ARSB | c.443T>A (p.Leu148Gln) n.514T>A | |
| 5 | g.78969063G>A | CA445103396 | ARSB | c.442C>T (p.Leu148=) n.513C>T | |
| 5 | g.78969063G>C | CA360194024 | ARSB | c.442C>G (p.Leu148Val) n.513C>G | |
| 5 | g.78969063G>T | CA360194022 | ARSB | c.442C>A (p.Leu148Met) n.513C>A | |
| 5 | g.78969064G>A | CA445103400 | ARSB | c.441C>T (p.His147=) n.512C>T | dbSNP gnomAD v4 |
| 5 | g.78969064G>C | CA360194025 | ARSB | c.441C>G (p.His147Gln) n.512C>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969064G= | CA1557703759 | ARSB | c.441C= (p.His147=) n.512C= | |
| 5 | g.78969064G>T | CA360194027 | ARSB | c.441C>A (p.His147Gln) n.512C>A | |
| 5 | g.78969065T>A | CA360194029 | ARSB | c.440A>T (p.His147Leu) n.511A>T | gnomAD v4 |
| 5 | g.78969065T>C | CA360194030 | ARSB | c.440A>G (p.His147Arg) n.511A>G | |
| 5 | g.78969065T>G | CA360194032 | ARSB | c.440A>C (p.His147Pro) n.511A>C | ClinVar dbSNP |
| 5 | g.78969065T= | CA1557703760 | ARSB | c.440A= (p.His147=) n.511A= | |
| 5 | g.78969066G>A | CA360194036 | ARSB | c.439C>T (p.His147Tyr) n.510C>T | gnomAD v4 |
| 5 | g.78969066G>C | CA360194034 | ARSB | c.439C>G (p.His147Asp) n.510C>G | |
| 5 | g.78969066G>T | CA360194033 | ARSB | c.439C>A (p.His147Asn) n.510C>A | |
| 5 | g.78969067C>A | CA360194038 | ARSB | c.438G>T (p.Trp146Cys) n.509G>T | gnomAD v4 |
| 5 | g.78969067C= | CA1557703761 | ARSB | c.438G= (p.Trp146=) n.509G= | |
| 5 | g.78969067C>G | CA360194040 | ARSB | c.438G>C (p.Trp146Cys) n.509G>C | |
| 5 | g.78969067C>T | CA121107823 | ARSB | c.438G>A (p.Trp146Ter) n.509G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969068del | CA2580073473 | ARSB | c.438del (p.Trp146CysfsTer?) n.509del | ClinVar |
| 5 | g.78969068C>A | CA360194041 | ARSB | c.437G>T (p.Trp146Leu) n.508G>T | ClinVar dbSNP |
| 5 | g.78969068C= | CA1557703762 | ARSB | c.437G= (p.Trp146=) n.508G= | |
| 5 | g.78969068C>G | CA360194043 | ARSB | c.437G>C (p.Trp146Ser) n.508G>C | ClinVar dbSNP |
| 5 | g.78969068C>T | CA360194044 | ARSB | c.437G>A (p.Trp146Ter) n.508G>A | |
| 5 | g.78969069A= | CA1557703763 | ARSB | c.436T= (p.Trp146=) n.507T= | |
| 5 | g.78969069A>C | CA360194045 | ARSB | c.436T>G (p.Trp146Gly) n.507T>G | |
| 5 | g.78969069A>G | CA360194048 | ARSB | c.436T>C (p.Trp146Arg) n.507T>C | ClinVar dbSNP |
| 5 | g.78969069A>T | CA360194046 | ARSB | c.436T>A (p.Trp146Arg) n.507T>A | |
| 5 | g.78969070T>A | CA360194049 | ARSB | c.435A>T (p.Lys145Asn) n.506A>T | |
| 5 | g.78969070T>C | CA445103417 | ARSB | c.435A>G (p.Lys145=) n.506A>G | |
| 5 | g.78969070T>G | CA360194051 | ARSB | c.435A>C (p.Lys145Asn) n.506A>C | |
| 5 | g.78969071T>A | CA360194052 | ARSB | c.434A>T (p.Lys145Ile) n.505A>T | |
| 5 | g.78969071T>C | CA360194054 | ARSB | c.434A>G (p.Lys145Arg) n.505A>G | |
| 5 | g.78969071T>G | CA360194055 | ARSB | c.434A>C (p.Lys145Thr) n.505A>C | |
| 5 | g.78969072T>A | CA360194056 | ARSB | c.433A>T (p.Lys145Ter) n.504A>T | |
| 5 | g.78969072T>C | CA3318266 | ARSB | c.433A>G (p.Lys145Glu) n.504A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969072T>G | CA360194058 | ARSB | c.433A>C (p.Lys145Gln) n.504A>C | |
| 5 | g.78969072T= | CA1557703764 | ARSB | c.433A= (p.Lys145=) n.504A= | |
| 5 | g.78969073T>A | CA445103432 | ARSB | c.432A>T (p.Gly144=) n.503A>T | |
| 5 | g.78969073T>C | CA445103436 | ARSB | c.432A>G (p.Gly144=) n.503A>G | ClinVar |
| 5 | g.78969073T>G | CA445103437 | ARSB | c.432A>C (p.Gly144=) n.503A>C | dbSNP |
| 5 | g.78969073T= | CA1557703765 | ARSB | c.432A= (p.Gly144=) n.503A= | |
| 5 | g.78969074C>A | CA360194060 | ARSB | c.431G>T (p.Gly144Val) n.502G>T | |
| 5 | g.78969074C>G | CA360194062 | ARSB | c.431G>C (p.Gly144Ala) n.502G>C | |
| 5 | g.78969074C>T | CA360194063 | ARSB | c.431G>A (p.Gly144Glu) n.502G>A | |
| 5 | g.78969075C>A | CA360194067 | ARSB | c.430G>T (p.Gly144Ter) n.501G>T | gnomAD v4 |
| 5 | g.78969075C= | CA1557703766 | ARSB | c.430G= (p.Gly144=) n.501G= | |
| 5 | g.78969075C>G | CA360194066 | ARSB | c.430G>C (p.Gly144Arg) n.501G>C | ClinVar dbSNP |
| 5 | g.78969075C>T | CA3318267 | ARSB | c.430G>A (p.Gly144Arg) n.501G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969076G>A | CA3318268 | ARSB | c.429C>T (p.Val143=) n.500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969076G>C | CA445103444 | ARSB | c.429C>G (p.Val143=) n.500C>G | dbSNP |
| 5 | g.78969076G= | CA1557703767 | ARSB | c.429C= (p.Val143=) n.500C= | |
| 5 | g.78969076G>T | CA445103443 | ARSB | c.429C>A (p.Val143=) n.500C>A | gnomAD v4 |
| 5 | g.78969077A>C | CA360194073 | ARSB | c.428T>G (p.Val143Gly) n.499T>G | |
| 5 | g.78969077A>G | CA360194071 | ARSB | c.428T>C (p.Val143Ala) n.499T>C | |
| 5 | g.78969077A>T | CA360194072 | ARSB | c.428T>A (p.Val143Asp) n.499T>A | |
| 5 | g.78969077_78969078delinsAC | CA1557703768 | ARSB | c.427_428delinsGT (p.Val143=) n.498_499delinsGT | |
| 5 | g.78969078C>A | CA360194077 | ARSB | c.427G>T (p.Val143Phe) n.498G>T | |
| 5 | g.78969078C= | CA1557703769 | ARSB | c.427G= (p.Val143=) n.498G= | |
| 5 | g.78969078C>G | CA360194079 | ARSB | c.427G>C (p.Val143Leu) n.498G>C | |
| 5 | g.78969078C>T | CA360194082 | ARSB | c.427G>A (p.Val143Ile) n.498G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969079del | CA3318269 | ARSB | c.427del (p.Val143SerfsTer?) n.498del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969079C>A | CA360194085 | ARSB | c.426G>T (p.Met142Ile) n.497G>T | |
| 5 | g.78969079C= | CA1557703770 | ARSB | c.426G= (p.Met142=) n.497G= | |
| 5 | g.78969079C>G | CA360194088 | ARSB | c.426G>C (p.Met142Ile) n.497G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969079C>T | CA360194090 | ARSB | c.426G>A (p.Met142Ile) n.497G>A | gnomAD v4 |
| 5 | g.78969080A>C | CA360194092 | ARSB | c.425T>G (p.Met142Arg) n.496T>G | |
| 5 | g.78969080A>G | CA360194093 | ARSB | c.425T>C (p.Met142Thr) n.496T>C | |
| 5 | g.78969080A>T | CA360194096 | ARSB | c.425T>A (p.Met142Lys) n.496T>A | |
| 5 | g.78969081T>A | CA360194101 | ARSB | c.424A>T (p.Met142Leu) n.495A>T | gnomAD v4 |
| 5 | g.78969081T>C | CA3318270 | ARSB | c.424A>G (p.Met142Val) n.495A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969081T>G | CA360194100 | ARSB | c.424A>C (p.Met142Leu) n.495A>C | |
| 5 | g.78969081T= | CA1557703771 | ARSB | c.424A= (p.Met142=) n.495A= | |
| 5 | g.78969082A= | CA1557703772 | ARSB | c.423T= (p.His141=) n.494T= | |
| 5 | g.78969082A>C | CA360194103 | ARSB | c.423T>G (p.His141Gln) n.494T>G | |
| 5 | g.78969082A>G | CA445103457 | ARSB | c.423T>C (p.His141=) n.494T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969082A>T | CA360194106 | ARSB | c.423T>A (p.His141Gln) n.494T>A | |
| 5 | g.78969083T>A | CA360194108 | ARSB | c.422A>T (p.His141Leu) n.493A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969083T>C | CA3318271 | ARSB | c.422A>G (p.His141Arg) n.493A>G | dbSNP ExAC gnomAD v2 |
| 5 | g.78969083T>G | CA360194110 | ARSB | c.422A>C (p.His141Pro) n.493A>C | |
| 5 | g.78969083T= | CA1557703773 | ARSB | c.422A= (p.His141=) n.493A= | |
| 5 | g.78969084G>A | CA360194114 | ARSB | c.421C>T (p.His141Tyr) n.492C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969084G>C | CA360194115 | ARSB | c.421C>G (p.His141Asp) n.492C>G | |
| 5 | g.78969084G= | CA1557703774 | ARSB | c.421C= (p.His141=) n.492C= | |
| 5 | g.78969084G>T | CA360194117 | ARSB | c.421C>A (p.His141Asn) n.492C>A | gnomAD v4 |
| 5 | g.78969085G>A | CA445103464 | ARSB | c.420C>T (p.Thr140=) n.491C>T | |
| 5 | g.78969085G>C | CA445103465 | ARSB | c.420C>G (p.Thr140=) n.491C>G | |
| 5 | g.78969085G>T | CA445103471 | ARSB | c.420C>A (p.Thr140=) n.491C>A | |
| 5 | g.78969086G>A | CA360194119 | ARSB | c.419C>T (p.Thr140Ile) n.490C>T | gnomAD v4 |
| 5 | g.78969086G>C | CA360194120 | ARSB | c.419C>G (p.Thr140Ser) n.490C>G | |
| 5 | g.78969086G>T | CA360194123 | ARSB | c.419C>A (p.Thr140Asn) n.490C>A | |
| 5 | g.78969087T>A | CA360194128 | ARSB | c.418A>T (p.Thr140Ser) n.489A>T | |
| 5 | g.78969087T>C | CA360194130 | ARSB | c.418A>G (p.Thr140Ala) n.489A>G | |
| 5 | g.78969087T>G | CA360194127 | ARSB | c.418A>C (p.Thr140Pro) n.489A>C | ClinVar dbSNP |
| 5 | g.78969087T= | CA1557703775 | ARSB | c.418A= (p.Thr140=) n.489A= | |
| 5 | g.78969088A>C | CA445103475 | ARSB | c.417T>G (p.Thr139=) n.488T>G | |
| 5 | g.78969088A>G | CA445103477 | ARSB | c.417T>C (p.Thr139=) n.488T>C | ClinVar |
| 5 | g.78969088A>T | CA445103479 | ARSB | c.417T>A (p.Thr139=) n.488T>A | |
| 5 | g.78969089G>A | CA3318272 | ARSB | c.416C>T (p.Thr139Ile) n.487C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969089G>C | CA360194134 | ARSB | c.416C>G (p.Thr139Ser) n.487C>G | |
| 5 | g.78969089G= | CA1557703776 | ARSB | c.416C= (p.Thr139=) n.487C= | |
| 5 | g.78969089G>T | CA360194135 | ARSB | c.416C>A (p.Thr139Asn) n.487C>A | |
| 5 | g.78969090T>A | CA360194137 | ARSB | c.415A>T (p.Thr139Ser) n.486A>T | |
| 5 | g.78969090T>C | CA360194138 | ARSB | c.415A>G (p.Thr139Ala) n.486A>G | |
| 5 | g.78969090T>G | CA360194139 | ARSB | c.415A>C (p.Thr139Pro) n.486A>C | |
| 5 | g.78969091A>C | CA360194142 | ARSB | c.414T>G (p.Tyr138Ter) n.485T>G | |
| 5 | g.78969091A>G | CA445103486 | ARSB | c.414T>C (p.Tyr138=) n.485T>C | gnomAD v4 |
| 5 | g.78969091A>T | CA360194141 | ARSB | c.414T>A (p.Tyr138Ter) n.485T>A | |
| 5 | g.78969092T>A | CA360194144 | ARSB | c.413A>T (p.Tyr138Phe) n.484A>T | |
| 5 | g.78969092T>C | CA360194145 | ARSB | c.413A>G (p.Tyr138Cys) n.484A>G | ClinVar dbSNP |
| 5 | g.78969092T>G | CA360194147 | ARSB | c.413A>C (p.Tyr138Ser) n.484A>C | |
| 5 | g.78969092T= | CA1557703777 | ARSB | c.413A= (p.Tyr138=) n.484A= | |
| 5 | g.78969093A>C | CA360194149 | ARSB | c.412T>G (p.Tyr138Asp) n.483T>G | |
| 5 | g.78969093A>G | CA360194150 | ARSB | c.412T>C (p.Tyr138His) n.483T>C | |
| 5 | g.78969093A>T | CA360194152 | ARSB | c.412T>A (p.Tyr138Asn) n.483T>A | |
| 5 | g.78969094A>C | CA445103489 | ARSB | c.411T>G (p.Gly137=) n.482T>G | |
| 5 | g.78969094A>G | CA445103491 | ARSB | c.411T>C (p.Gly137=) n.482T>C | |
| 5 | g.78969094A>T | CA445103492 | ARSB | c.411T>A (p.Gly137=) n.482T>A | |
| 5 | g.78969095C>A | CA114600 | ARSB | c.410G>T (p.Gly137Val) n.481G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969095C= | CA1557703778 | ARSB | c.410G= (p.Gly137=) n.481G= | |
| 5 | g.78969095C>G | CA360194155 | ARSB | c.410G>C (p.Gly137Ala) n.481G>C | |
| 5 | g.78969095C>T | CA3318273 | ARSB | c.410G>A (p.Gly137Asp) n.481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969096C>A | CA360194157 | ARSB | c.409G>T (p.Gly137Cys) n.480G>T | |
| 5 | g.78969096C>G | CA360194159 | ARSB | c.409G>C (p.Gly137Arg) n.480G>C | |
| 5 | g.78969096C>T | CA360194161 | ARSB | c.409G>A (p.Gly137Ser) n.480G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969097T>A | CA445103498 | ARSB | c.408A>T (p.Ala136=) n.479A>T | |
| 5 | g.78969097T>C | CA445103499 | ARSB | c.408A>G (p.Ala136=) n.479A>G | |
| 5 | g.78969097T>G | CA445103497 | ARSB | c.408A>C (p.Ala136=) n.479A>C | |
| 5 | g.78969098G>A | CA3318274 | ARSB | c.407C>T (p.Ala136Val) n.478C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969098G>C | CA360194163 | ARSB | c.407C>G (p.Ala136Gly) n.478C>G | gnomAD v4 |
| 5 | g.78969098G= | CA1557703779 | ARSB | c.407C= (p.Ala136=) n.478C= | |
| 5 | g.78969098G>T | CA360194164 | ARSB | c.407C>A (p.Ala136Glu) n.478C>A | |
| 5 | g.78969099C>A | CA360194167 | ARSB | c.406G>T (p.Ala136Ser) n.477G>T | |
| 5 | g.78969099C= | CA1557703780 | ARSB | c.406G= (p.Ala136=) n.477G= | |
| 5 | g.78969099C>G | CA360194168 | ARSB | c.406G>C (p.Ala136Pro) n.477G>C | |
| 5 | g.78969099C>T | CA3318275 | ARSB | c.406G>A (p.Ala136Thr) n.477G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969099_78969100delinsCT | CA1557703781 | ARSB | c.405_406delinsAG (p.Glu135=) n.476_477delinsAG | |
| 5 | g.78969100T>A | CA360194173 | ARSB | c.405A>T (p.Glu135Asp) n.476A>T | |
| 5 | g.78969100T>C | CA445103505 | ARSB | c.405A>G (p.Glu135=) n.476A>G | |
| 5 | g.78969100T>G | CA360194174 | ARSB | c.405A>C (p.Glu135Asp) n.476A>C | |
| 5 | g.78969101del | CA1557703782 | ARSB | c.405del (p.Ala136GlnfsTer?) n.476del | dbSNP |
| 5 | g.78969101T>A | CA360194182 | ARSB | c.404A>T (p.Glu135Val) n.475A>T | |
| 5 | g.78969101T>C | CA360194179 | ARSB | c.404A>G (p.Glu135Gly) n.475A>G | |
| 5 | g.78969101T>G | CA360194176 | ARSB | c.404A>C (p.Glu135Ala) n.475A>C | |
| 5 | g.78969102C>A | CA360194184 | ARSB | c.403G>T (p.Glu135Ter) n.474G>T | ClinVar |
| 5 | g.78969102C>G | CA360194187 | ARSB | c.403G>C (p.Glu135Gln) n.474G>C | |
| 5 | g.78969102C>T | CA360194186 | ARSB | c.403G>A (p.Glu135Lys) n.474G>A | |
| 5 | g.78969103T>A | CA360194190 | ARSB | c.402A>T (p.Lys134Asn) n.473A>T | |
| 5 | g.78969103T>C | CA445103509 | ARSB | c.402A>G (p.Lys134=) n.473A>G | |
| 5 | g.78969103T>G | CA360194192 | ARSB | c.402A>C (p.Lys134Asn) n.473A>C | |
| 5 | g.78969104T>A | CA360194195 | ARSB | c.401A>T (p.Lys134Ile) n.472A>T | |
| 5 | g.78969104T>C | CA3318276 | ARSB | c.401A>G (p.Lys134Arg) n.472A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969104T>G | CA360194198 | ARSB | c.401A>C (p.Lys134Thr) n.472A>C | gnomAD v4 |
| 5 | g.78969104T= | CA1557703783 | ARSB | c.401A= (p.Lys134=) n.472A= | |
| 5 | g.78969105T>A | CA360194206 | ARSB | c.400A>T (p.Lys134Ter) n.471A>T | |
| 5 | g.78969105T>C | CA360194204 | ARSB | c.400A>G (p.Lys134Glu) n.471A>G | gnomAD v4 |
| 5 | g.78969105T>G | CA360194202 | ARSB | c.400A>C (p.Lys134Gln) n.471A>C | gnomAD v4 |
| 5 | g.78969106T>A | CA445103513 | ARSB | c.399A>T (p.Leu133=) n.470A>T | |
| 5 | g.78969106T>C | CA3318277 | ARSB | c.399A>G (p.Leu133=) n.470A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969106T>G | CA445103515 | ARSB | c.399A>C (p.Leu133=) n.470A>C | |
| 5 | g.78969106T= | CA1557703784 | ARSB | c.399A= (p.Leu133=) n.470A= | |
| 5 | g.78969107A>C | CA360194211 | ARSB | c.398T>G (p.Leu133Arg) n.469T>G | |
| 5 | g.78969107A>G | CA360194212 | ARSB | c.398T>C (p.Leu133Pro) n.469T>C | |
| 5 | g.78969107A>T | CA360194215 | ARSB | c.398T>A (p.Leu133Gln) n.469T>A | |
| 5 | g.78969108G>A | CA445103517 | ARSB | c.397C>T (p.Leu133=) n.468C>T | gnomAD v4 |
| 5 | g.78969108G>C | CA360194219 | ARSB | c.397C>G (p.Leu133Val) n.468C>G | |
| 5 | g.78969108G>T | CA360194221 | ARSB | c.397C>A (p.Leu133Ile) n.468C>A | |
| 5 | g.78969109G>A | CA445103519 | ARSB | c.396C>T (p.Leu132=) n.467C>T | |
| 5 | g.78969109G>C | CA121107922 | ARSB | c.396C>G (p.Leu132=) n.467C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969109G= | CA1557703785 | ARSB | c.396C= (p.Leu132=) n.467C= | |
| 5 | g.78969109G>T | CA445103520 | ARSB | c.396C>A (p.Leu132=) n.467C>A | gnomAD v4 |
| 5 | g.78969110A= | CA1557703786 | ARSB | c.395T= (p.Leu132=) n.466T= | |
| 5 | g.78969110A>C | CA360194223 | ARSB | c.395T>G (p.Leu132Arg) n.466T>G | |
| 5 | g.78969110A>G | CA360194228 | ARSB | c.395T>C (p.Leu132Pro) n.466T>C | ClinVar dbSNP |
| 5 | g.78969110A>T | CA360194225 | ARSB | c.395T>A (p.Leu132His) n.466T>A | gnomAD v4 |
| 5 | g.78969111G>A | CA360194229 | ARSB | c.394C>T (p.Leu132Phe) n.465C>T | |
| 5 | g.78969111G>C | CA360194230 | ARSB | c.394C>G (p.Leu132Val) n.465C>G | |
| 5 | g.78969111G>T | CA360194232 | ARSB | c.394C>A (p.Leu132Ile) n.465C>A | |
| 5 | g.78969112C>A | CA3318278 | ARSB | c.393G>T (p.Gln131His) n.464G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969112C= | CA1557703787 | ARSB | c.393G= (p.Gln131=) n.464G= | |
| 5 | g.78969112C>G | CA360194236 | ARSB | c.393G>C (p.Gln131His) n.464G>C | gnomAD v4 |
| 5 | g.78969112C>T | CA445103526 | ARSB | c.393G>A (p.Gln131=) n.464G>A | |
| 5 | g.78969113T>A | CA3318279 | ARSB | c.392A>T (p.Gln131Leu) n.463A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969113T>C | CA360194240 | ARSB | c.392A>G (p.Gln131Arg) n.463A>G | |
| 5 | g.78969113T>G | CA360194242 | ARSB | c.392A>C (p.Gln131Pro) n.463A>C | |
| 5 | g.78969113T= | CA1557703788 | ARSB | c.392A= (p.Gln131=) n.463A= | |
| 5 | g.78969114G>A | CA360194245 | ARSB | c.391C>T (p.Gln131Ter) n.462C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969114G>C | CA360194251 | ARSB | c.391C>G (p.Gln131Glu) n.462C>G | |
| 5 | g.78969114G= | CA1557703789 | ARSB | c.391C= (p.Gln131=) n.462C= | |
| 5 | g.78969114G>T | CA360194253 | ARSB | c.391C>A (p.Gln131Lys) n.462C>A | |
| 5 | g.78969115G>A | CA445103530 | ARSB | c.390C>T (p.Pro130=) n.461C>T | gnomAD v4 |
| 5 | g.78969115G>C | CA445103531 | ARSB | c.390C>G (p.Pro130=) n.461C>G | ClinVar |
| 5 | g.78969115G>T | CA445103532 | ARSB | c.390C>A (p.Pro130=) n.461C>A | |
| 5 | g.78969116G>A | CA360194254 | ARSB | c.389C>T (p.Pro130Leu) n.460C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969116G>C | CA360194256 | ARSB | c.389C>G (p.Pro130Arg) n.460C>G | |
| 5 | g.78969116G= | CA1557703790 | ARSB | c.389C= (p.Pro130=) n.460C= | |
| 5 | g.78969116G>T | CA360194255 | ARSB | c.389C>A (p.Pro130His) n.460C>A | |
| 5 | g.78969117G>A | CA3318280 | ARSB | c.388C>T (p.Pro130Ser) n.459C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969117G>C | CA360194257 | ARSB | c.388C>G (p.Pro130Ala) n.459C>G | |
| 5 | g.78969117G= | CA1557703791 | ARSB | c.388C= (p.Pro130=) n.459C= | |
| 5 | g.78969117G>T | CA360194258 | ARSB | c.388C>A (p.Pro130Thr) n.459C>A | dbSNP |
| 5 | g.78969118C>A | CA445103536 | ARSB | c.387G>T (p.Leu129=) n.458G>T | |
| 5 | g.78969118C= | CA1557703793 | ARSB | c.387G= (p.Leu129=) n.458G= | |
| 5 | g.78969118C>G | CA445103537 | ARSB | c.387G>C (p.Leu129=) n.458G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969118C>T | CA445103538 | ARSB | c.387G>A (p.Leu129=) n.458G>A | ClinVar dbSNP |
| 5 | g.78969118_78969121delinsCAGG | CA1557703792 | ARSB | c.384_387delinsCCTG (p.Leu128=) n.455_458delinsCCTG | |
| 5 | g.78969119A= | CA1557703795 | ARSB | c.386T= (p.Leu129=) n.457T= | |
| 5 | g.78969119A>C | CA360194259 | ARSB | c.386T>G (p.Leu129Arg) n.457T>G | |
| 5 | g.78969119A>G | CA360194260 | ARSB | c.386T>C (p.Leu129Pro) n.457T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969119A>T | CA360194261 | ARSB | c.386T>A (p.Leu129Gln) n.457T>A | |
| 5 | g.78969119_78969120delinsAG | CA1557703794 | ARSB | c.385_386delinsCT (p.Leu129=) n.456_457delinsCT | |
| 5 | g.78969121_78969123del | CA658822933 | ARSB | c.384_386del (p.Leu129del) n.455_457del | ClinVar dbSNP |
| 5 | g.78969120G>A | CA445103540 | ARSB | c.385C>T (p.Leu129=) n.456C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969120G>C | CA360194263 | ARSB | c.385C>G (p.Leu129Val) n.456C>G | dbSNP |
| 5 | g.78969120G= | CA1557703796 | ARSB | c.385C= (p.Leu129=) n.456C= | |
| 5 | g.78969120G>T | CA360194264 | ARSB | c.385C>A (p.Leu129Met) n.456C>A | |
| 5 | g.78969121del | CA1139658905 | ARSB | c.385del (p.Leu129CysfsTer5) n.456del | ClinVar dbSNP |
| 5 | g.78969121G>A | CA445103542 | ARSB | c.384C>T (p.Leu128=) n.455C>T | |
| 5 | g.78969121G>C | CA3318281 | ARSB | c.384C>G (p.Leu128=) n.455C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969121G= | CA1557703797 | ARSB | c.384C= (p.Leu128=) n.455C= | |
| 5 | g.78969121G>T | CA445103545 | ARSB | c.384C>A (p.Leu128=) n.455C>A | |
| 5 | g.78969122A>C | CA360194266 | ARSB | c.383T>G (p.Leu128Arg) n.454T>G | |
| 5 | g.78969122A>G | CA360194268 | ARSB | c.383T>C (p.Leu128Pro) n.454T>C | |
| 5 | g.78969122A>T | CA360194269 | ARSB | c.383T>A (p.Leu128His) n.454T>A |