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.78968963C>T | CA2674368714 | ARSB | c.499+43G>A (n.499+43G>A) n.570+43G>A | gnomAD v4 |
| 5 | g.78968965G>A | CA560767923 | ARSB | c.499+41C>T (n.499+41C>T) n.570+41C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78968965G= | CA1557703713 | ARSB | c.499+41C= (n.499+41C=) n.570+41C= | |
| 5 | g.78968968A>G | CA2674368715 | ARSB | c.499+38T>C (n.499+38T>C) n.570+38T>C | gnomAD v4 |
| 5 | g.78968971C>A | CA2674368716 | ARSB | c.499+35G>T (n.499+35G>T) n.570+35G>T | gnomAD v4 |
| 5 | g.78968971C= | CA1557703714 | ARSB | c.499+35G= (n.499+35G=) n.570+35G= | |
| 5 | g.78968971C>T | CA3318250 | ARSB | c.499+35G>A (n.499+35G>A) n.570+35G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78968974A= | CA1557703715 | ARSB | c.499+32T= (n.499+32T=) n.570+32T= | |
| 5 | g.78968974A>G | CA3318251 | ARSB | c.499+32T>C (n.499+32T>C) n.570+32T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78968976T>C | CA1557703717 | ARSB | c.499+30A>G (n.499+30A>G) n.570+30A>G | dbSNP gnomAD v4 |
| 5 | g.78968976T= | CA1557703716 | ARSB | c.499+30A= (n.499+30A=) n.570+30A= | |
| 5 | g.78968977T>C | CA2709284765 | ARSB | c.499+29A>G (n.499+29A>G) n.570+29A>G | dbSNP |
| 5 | g.78968984G>A | CA3318252 | ARSB | c.499+22C>T (n.499+22C>T) n.570+22C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78968984G= | CA1557703718 | ARSB | c.499+22C= (n.499+22C=) n.570+22C= | |
| 5 | g.78968985A= | CA1557703719 | ARSB | c.499+21T= (n.499+21T=) n.570+21T= | |
| 5 | g.78968985A>G | CA1077848849 | ARSB | c.499+21T>C (n.499+21T>C) n.570+21T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78968988_78968989del | CA2532490501 | ARSB | c.499+18_499+19del (n.499+18_499+19del) n.570+18_570+19del | |
| 5 | g.78968988C= | CA1557703720 | ARSB | c.499+18G= (n.499+18G=) n.570+18G= | |
| 5 | g.78968988C>G | CA814297085 | ARSB | c.499+18G>C (n.499+18G>C) n.570+18G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78968988C>T | CA3318254 | ARSB | c.499+18G>A (n.499+18G>A) n.570+18G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78968988_78968990delinsCAT | CA1557703721 | ARSB | c.499+16_499+18delinsATG (n.499+16_499+18delinsATG) n.570+16_570+18delinsATG | |
| 5 | g.78968989_78968990del | CA3318253 | ARSB | c.499+16_499+17del (n.499+16_499+17del) n.570+16_570+17del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78968990T>C | CA3318255 | ARSB | c.499+16A>G (n.499+16A>G) n.570+16A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78968990T= | CA1557703722 | ARSB | c.499+16A= (n.499+16A=) n.570+16A= | |
| 5 | g.78968991G>A | CA2739274815 | ARSB | c.499+15C>T (n.499+15C>T) n.570+15C>T | ClinVar |
| 5 | g.78968992T>C | CA2578345469 | ARSB | c.499+14A>G (n.499+14A>G) n.570+14A>G | |
| 5 | g.78968993G>A | CA2740091759 | ARSB | c.499+13C>T (n.499+13C>T) n.570+13C>T | ClinVar |
| 5 | g.78968993G>C | CA2740091760 | ARSB | c.499+13C>G (n.499+13C>G) n.570+13C>G | ClinVar |
| 5 | g.78968994C= | CA1557703723 | ARSB | c.499+12G= (n.499+12G=) n.570+12G= | |
| 5 | g.78968994C>T | CA121107678 | ARSB | c.499+12G>A (n.499+12G>A) n.570+12G>A | dbSNP gnomAD v4 |
| 5 | g.78968995A= | CA1557703724 | ARSB | c.499+11T= (n.499+11T=) n.570+11T= | |
| 5 | g.78968996T>C | CA3318256 | ARSB | c.499+10A>G (n.499+10A>G) n.570+10A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78968996T= | CA1557703725 | ARSB | c.499+10A= (n.499+10A=) n.570+10A= | |
| 5 | g.78968998dup | CA1557703726 | ARSB | c.499+10dup (n.499+10dup) n.570+10dup | dbSNP gnomAD v4 |
| 5 | g.78968997T>C | CA3318257 | ARSB | c.499+9A>G (n.499+9A>G) n.570+9A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78968997T= | CA1557703727 | ARSB | c.499+9A= (n.499+9A=) n.570+9A= | |
| 5 | g.78968999C= | CA1557703728 | ARSB | c.499+7G= (n.499+7G=) n.570+7G= | |
| 5 | g.78968999C>T | CA560767924 | ARSB | c.499+7G>A (n.499+7G>A) n.570+7G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969000C= | CA1557703729 | ARSB | c.499+6G= (n.499+6G=) n.570+6G= | |
| 5 | g.78969000C>T | CA121107687 | ARSB | c.499+6G>A (n.499+6G>A) n.570+6G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969001A= | CA1557703730 | ARSB | c.499+5T= (n.499+5T=) n.570+5T= | |
| 5 | g.78969001A>G | CA3318258 | ARSB | c.499+5T>C (n.499+5T>C) n.570+5T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969002_78969016delinsTTACCAAAGTAGGTA | CA1557703731 | ARSB | c.489_499+4delinsTACCTACTTTGGTAA n.560_570+4delinsTACCTACTTTGGTAA | |
| 5 | g.78969004_78969017del | CA560767925 | ARSB | c.489_499+3del n.560_570+3del | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969004A>C | CA360193812 | ARSB | c.499+2T>G (n.499+2T>G) n.570+2T>G | |
| 5 | g.78969004A>G | CA360193809 | ARSB | c.499+2T>C (n.499+2T>C) n.570+2T>C | |
| 5 | g.78969004A>T | CA360193811 | ARSB | c.499+2T>A (n.499+2T>A) n.570+2T>A | ClinVar |
| 5 | g.78969005C>A | CA360193814 | ARSB | c.499+1G>T (n.499+1G>T) n.570+1G>T | dbSNP |
| 5 | g.78969005C= | CA1557703732 | ARSB | c.499+1G= (n.499+1G=) n.570+1G= | |
| 5 | g.78969005C>G | CA360193816 | ARSB | c.499+1G>C (n.499+1G>C) n.570+1G>C | |
| 5 | g.78969005C>T | CA360193818 | ARSB | c.499+1G>A (n.499+1G>A) n.570+1G>A | gnomAD v4 |
| 5 | g.78969006C>A | CA360193819 | ARSB | c.499G>T (p.Gly167Ter) n.570G>T | |
| 5 | g.78969006C= | CA1557703733 | ARSB | c.499G= (p.Gly167=) n.570G= | |
| 5 | g.78969006C>G | CA360193821 | ARSB | c.499G>C (p.Gly167Arg) n.570G>C | ClinVar gnomAD v4 |
| 5 | g.78969006C>T | CA360193823 | ARSB | c.499G>A (p.Gly167Arg) n.570G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969006_78969007delinsCA | CA1557703734 | ARSB | c.498_499delinsTG (p.Phe166=) n.569_570delinsTG | |
| 5 | g.78969007A>C | CA360193824 | ARSB | c.498T>G (p.Phe166Leu) n.569T>G | |
| 5 | g.78969007A>G | CA445103207 | ARSB | c.498T>C (p.Phe166=) n.569T>C | gnomAD v4 |
| 5 | g.78969007A>T | CA360193826 | ARSB | c.498T>A (p.Phe166Leu) n.569T>A | |
| 5 | g.78969009del | CA658822932 | ARSB | c.498del (p.Phe166LeufsTer18) n.569del | ClinVar dbSNP |
| 5 | g.78969008A= | CA1557703735 | ARSB | c.497T= (p.Phe166=) n.568T= | |
| 5 | g.78969008A>C | CA360193827 | ARSB | c.497T>G (p.Phe166Cys) n.568T>G | |
| 5 | g.78969008A>G | CA360193829 | ARSB | c.497T>C (p.Phe166Ser) n.568T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969008A>T | CA360193830 | ARSB | c.497T>A (p.Phe166Tyr) n.568T>A | |
| 5 | g.78969009A>C | CA360193832 | ARSB | c.496T>G (p.Phe166Val) n.567T>G | |
| 5 | g.78969009A>G | CA360193835 | ARSB | c.496T>C (p.Phe166Leu) n.567T>C | |
| 5 | g.78969009A>T | CA360193834 | ARSB | c.496T>A (p.Phe166Ile) n.567T>A | |
| 5 | g.78969010G>A | CA445103215 | ARSB | c.495C>T (p.Tyr165=) n.566C>T | gnomAD v4 |
| 5 | g.78969010G>C | CA360193837 | ARSB | c.495C>G (p.Tyr165Ter) n.566C>G | |
| 5 | g.78969010G>T | CA360193838 | ARSB | c.495C>A (p.Tyr165Ter) n.566C>A | |
| 5 | g.78969011T>A | CA360193840 | ARSB | c.494A>T (p.Tyr165Phe) n.565A>T | |
| 5 | g.78969011T>C | CA360193842 | ARSB | c.494A>G (p.Tyr165Cys) n.565A>G | gnomAD v4 |
| 5 | g.78969011T>G | CA360193843 | ARSB | c.494A>C (p.Tyr165Ser) n.565A>C | dbSNP |
| 5 | g.78969011T= | CA1557703736 | ARSB | c.494A= (p.Tyr165=) n.565A= | |
| 5 | g.78969012A>C | CA360193846 | ARSB | c.493T>G (p.Tyr165Asp) n.564T>G | |
| 5 | g.78969012A>G | CA360193847 | ARSB | c.493T>C (p.Tyr165His) n.564T>C | |
| 5 | g.78969012A>T | CA360193849 | ARSB | c.493T>A (p.Tyr165Asn) n.564T>A | |
| 5 | g.78969013G>A | CA445103225 | ARSB | c.492C>T (p.Thr164=) n.563C>T | ClinVar dbSNP |
| 5 | g.78969013G>C | CA445103227 | ARSB | c.492C>G (p.Thr164=) n.563C>G | gnomAD v4 |
| 5 | g.78969013G>T | CA445103226 | ARSB | c.492C>A (p.Thr164=) n.563C>A | |
| 5 | g.78969013_78969016delinsGGTA | CA1557703737 | ARSB | c.489_492delinsTACC (p.Asp163=) n.560_563delinsTACC | |
| 5 | g.78969014G>A | CA360193850 | ARSB | c.491C>T (p.Thr164Ile) n.562C>T | |
| 5 | g.78969014G>C | CA360193852 | ARSB | c.491C>G (p.Thr164Ser) n.562C>G | |
| 5 | g.78969014G= | CA1557703738 | ARSB | c.491C= (p.Thr164=) n.562C= | |
| 5 | g.78969014G>T | CA360193853 | ARSB | c.491C>A (p.Thr164Asn) n.562C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969014_78969016del | CA560767968 | ARSB | c.489_491del (p.Thr164del) n.560_562del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969015T>A | CA360193856 | ARSB | c.490A>T (p.Thr164Ser) n.561A>T | |
| 5 | g.78969015T>C | CA360193858 | ARSB | c.490A>G (p.Thr164Ala) n.561A>G | gnomAD v4 COSMIC COSMIC |
| 5 | g.78969015T>G | CA360193855 | ARSB | c.490A>C (p.Thr164Pro) n.561A>C | |
| 5 | g.78969015dup | CA2674368717 | ARSB | c.490dup (p.Thr164AsnfsTer9) n.561dup | gnomAD v4 |
| 5 | g.78969016A>C | CA360193860 | ARSB | c.489T>G (p.Asp163Glu) n.560T>G | |
| 5 | g.78969016A>G | CA445103235 | ARSB | c.489T>C (p.Asp163=) n.560T>C | |
| 5 | g.78969016A>T | CA360193861 | ARSB | c.489T>A (p.Asp163Glu) n.560T>A | |
| 5 | g.78969017T>A | CA3318259 | ARSB | c.488A>T (p.Asp163Val) n.559A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969017T>C | CA360193864 | ARSB | c.488A>G (p.Asp163Gly) n.559A>G | |
| 5 | g.78969017T>G | CA360193866 | ARSB | c.488A>C (p.Asp163Ala) n.559A>C | |
| 5 | g.78969017T= | CA1557703739 | ARSB | c.488A= (p.Asp163=) n.559A= | |
| 5 | g.78969018C>A | CA360193867 | ARSB | c.487G>T (p.Asp163Tyr) n.558G>T | |
| 5 | g.78969018C>G | CA360193868 | ARSB | c.487G>C (p.Asp163His) n.558G>C | |
| 5 | g.78969018C>T | CA360193869 | ARSB | c.487G>A (p.Asp163Asn) n.558G>A | |
| 5 | g.78969019A>C | CA360193871 | ARSB | c.486T>G (p.Phe162Leu) n.557T>G | |
| 5 | g.78969019A>G | CA445103245 | ARSB | c.486T>C (p.Phe162=) n.557T>C | |
| 5 | g.78969019A>T | CA360193873 | ARSB | c.486T>A (p.Phe162Leu) n.557T>A | |
| 5 | g.78969020A>C | CA360193874 | ARSB | c.485T>G (p.Phe162Cys) n.556T>G | |
| 5 | g.78969020A>G | CA360193875 | ARSB | c.485T>C (p.Phe162Ser) n.556T>C | |
| 5 | g.78969020A>T | CA360193876 | ARSB | c.485T>A (p.Phe162Tyr) n.556T>A | |
| 5 | g.78969021A>C | CA360193880 | ARSB | c.484T>G (p.Phe162Val) n.555T>G | |
| 5 | g.78969021A>G | CA360193878 | ARSB | c.484T>C (p.Phe162Leu) n.555T>C | |
| 5 | g.78969021A>T | CA360193877 | ARSB | c.484T>A (p.Phe162Ile) n.555T>A | |
| 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 |