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.78780363T>G | CA2578345239 | ARSB | c.*34A>C (n.*34A>C) n.601A>C | gnomAD v4 |
| 5 | g.78780365C>A | CA2674366578 | ARSB | c.*32G>T (n.*32G>T) n.599G>T | gnomAD v4 |
| 5 | g.78780365C= | CA1557615153 | ARSB | c.*32G= (n.*32G=) n.599G= | |
| 5 | g.78780365C>T | CA3317952 | ARSB | c.*32G>A (n.*32G>A) n.599G>A | dbSNP ExAC gnomAD v2 |
| 5 | g.78780366A= | CA1557615157 | ARSB | c.*31T= (n.*31T=) n.598T= | |
| 5 | g.78780366A>C | CA1077831058 | ARSB | c.*31T>G (n.*31T>G) n.598T>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780366A>T | CA2674366579 | ARSB | c.*31T>A (n.*31T>A) n.598T>A | gnomAD v4 |
| 5 | g.78780367A= | CA1557615161 | ARSB | c.*30T= (n.*30T=) n.597T= | |
| 5 | g.78780367A>G | CA3317953 | ARSB | c.*30T>C (n.*30T>C) n.597T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.78780368T>A | CA814255496 | ARSB | c.*29A>T (n.*29A>T) n.596A>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780368T>C | CA121679128 | ARSB | c.*29A>G (n.*29A>G) n.596A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780368T= | CA1557615164 | ARSB | c.*29A= (n.*29A=) n.596A= | |
| 5 | g.78780371A= | CA1557615165 | ARSB | c.*26T= (n.*26T=) n.593T= | |
| 5 | g.78780371A>T | CA814255509 | ARSB | c.*26T>A (n.*26T>A) n.593T>A | dbSNP |
| 5 | g.78780374G>A | CA1557615170 | ARSB | c.*23C>T (n.*23C>T) n.590C>T | dbSNP gnomAD v4 |
| 5 | g.78780374G>C | CA2674366580 | ARSB | c.*23C>G (n.*23C>G) n.590C>G | gnomAD v4 |
| 5 | g.78780374G= | CA1557615168 | ARSB | c.*23C= (n.*23C=) n.590C= | |
| 5 | g.78780374G>T | CA2740652648 | ARSB | c.*23C>A (n.*23C>A) n.590C>A | |
| 5 | g.78780375G>A | CA2674366581 | ARSB | c.*22C>T (n.*22C>T) n.589C>T | gnomAD v4 |
| 5 | g.78780379T>C | CA2674366582 | ARSB | c.*18A>G (n.*18A>G) n.585A>G | gnomAD v4 |
| 5 | g.78780381del | CA2674366583 | ARSB | c.*16del (n.*16del) n.583del | gnomAD v4 |
| 5 | g.78780381T>C | CA2674366584 | ARSB | c.*16A>G (n.*16A>G) n.583A>G | gnomAD v4 |
| 5 | g.78780383G= | CA1557615171 | ARSB | c.*14C= (n.*14C=) n.581C= | |
| 5 | g.78780384C>A | CA1077831061 | ARSB | c.*13G>T (n.*13G>T) n.580G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780384C= | CA1557615175 | ARSB | c.*13G= (n.*13G=) n.580G= | |
| 5 | g.78780384C>T | CA1557615177 | ARSB | c.*13G>A (n.*13G>A) n.580G>A | dbSNP |
| 5 | g.78780385dup | CA3317954 | ARSB | c.*13dup (n.*13dup) n.580dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780385C= | CA1557615182 | ARSB | c.*12G= (n.*12G=) n.579G= | |
| 5 | g.78780385C>T | CA3317955 | ARSB | c.*12G>A (n.*12G>A) n.579G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780386T>A | CA1557615190 | ARSB | c.*11A>T (n.*11A>T) n.578A>T | dbSNP |
| 5 | g.78780386T= | CA1557615188 | ARSB | c.*11A= (n.*11A=) n.578A= | |
| 5 | g.78780386_78780387insTTCAAGGATGTAG | CA3317956 | ARSB | c.*10_*11insCTACATCCTTGAA (n.*10_*11insCTACATCCTTGAA) n.577_578insCTACATCCTTGAA | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780389C>T | CA2674366585 | ARSB | c.*8G>A (n.*8G>A) n.575G>A | gnomAD v4 |
| 5 | g.78780391G>A | CA2674366587 | ARSB | c.*6C>T (n.*6C>T) n.573C>T | gnomAD v4 |
| 5 | g.78780391G>C | CA2674366586 | ARSB | c.*6C>G (n.*6C>G) n.573C>G | gnomAD v4 |
| 5 | g.78780397C>A | CA360338753 | ARSB | c.1602G>T (p.Ter534Tyr) n.567G>T | |
| 5 | g.78780397C>G | CA360338754 | ARSB | c.1602G>C (p.Ter534Tyr) n.567G>C | |
| 5 | g.78780397C>T | CA445400177 | ARSB | c.1602G>A (p.Ter534=) n.567G>A | |
| 5 | g.78780398T>A | CA360338755 | ARSB | c.1601A>T (p.Ter534Leu) n.566A>T | |
| 5 | g.78780398T>C | CA360338756 | ARSB | c.1601A>G (p.Ter534Trp) n.566A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.78780398T>G | CA360338757 | ARSB | c.1601A>C (p.Ter534Ser) n.566A>C | ClinVar dbSNP |
| 5 | g.78780398T= | CA1557615199 | ARSB | c.1601A= (p.Ter534=) n.566A= | |
| 5 | g.78780399A= | CA1557615217 | ARSB | c.1600T= (p.Ter534=) n.565T= | |
| 5 | g.78780399A>C | CA360338758 | ARSB | c.1600T>G (p.Ter534Glu) n.565T>G | |
| 5 | g.78780399A>G | CA360338759 | ARSB | c.1600T>C (p.Ter534Gln) n.565T>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.78780399A>T | CA360338760 | ARSB | c.1600T>A (p.Ter534Lys) n.565T>A | |
| 5 | g.78780400C>A | CA360338761 | ARSB | c.1599G>T (p.Met533Ile) n.564G>T | COSMIC |
| 5 | g.78780400C= | CA1557615221 | ARSB | c.1599G= (p.Met533=) n.564G= | |
| 5 | g.78780400C>G | CA360338762 | ARSB | c.1599G>C (p.Met533Ile) n.564G>C | |
| 5 | g.78780400C>T | CA360338763 | ARSB | c.1599G>A (p.Met533Ile) n.564G>A | dbSNP |
| 5 | g.78780401A= | CA1557615227 | ARSB | c.1598T= (p.Met533=) n.563T= | |
| 5 | g.78780401A>C | CA360338764 | ARSB | c.1598T>G (p.Met533Arg) n.563T>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780401A>G | CA360338766 | ARSB | c.1598T>C (p.Met533Thr) n.563T>C | |
| 5 | g.78780401A>T | CA360338765 | ARSB | c.1598T>A (p.Met533Lys) n.563T>A | |
| 5 | g.78780402T>A | CA360338767 | ARSB | c.1597A>T (p.Met533Leu) n.562A>T | |
| 5 | g.78780402T>C | CA360338769 | ARSB | c.1597A>G (p.Met533Val) n.562A>G | |
| 5 | g.78780402T>G | CA360338768 | ARSB | c.1597A>C (p.Met533Leu) n.562A>C | |
| 5 | g.78780402_78780417delinsTCCAAGGGCCCCACAC | CA1557615234 | ARSB | c.1582_1597delinsGTGTGGGGCCCTTGGA (p.Val528=) n.547_562delinsGTGTGGGGCCCTTGGA | |
| 5 | g.78780403C>A | CA360338770 | ARSB | c.1596G>T (p.Trp532Cys) n.561G>T | |
| 5 | g.78780403C= | CA1557615245 | ARSB | c.1596G= (p.Trp532=) n.561G= | |
| 5 | g.78780403C>G | CA360338771 | ARSB | c.1596G>C (p.Trp532Cys) n.561G>C | |
| 5 | g.78780403C>T | CA360338772 | ARSB | c.1596G>A (p.Trp532Ter) n.561G>A | dbSNP |
| 5 | g.78780405_78780419del | CA658822421 | ARSB | c.1582_1596del (p.Val528_Trp532del) n.547_561del | ClinVar dbSNP |
| 5 | g.78780404C>A | CA360338773 | ARSB | c.1595G>T (p.Trp532Leu) n.560G>T | |
| 5 | g.78780404C>G | CA360338774 | ARSB | c.1595G>C (p.Trp532Ser) n.560G>C | |
| 5 | g.78780404C>T | CA360338775 | ARSB | c.1595G>A (p.Trp532Ter) n.560G>A | ClinVar gnomAD v4 |
| 5 | g.78780405A>C | CA360338776 | ARSB | c.1594T>G (p.Trp532Gly) n.559T>G | |
| 5 | g.78780405A>G | CA360338777 | ARSB | c.1594T>C (p.Trp532Arg) n.559T>C | |
| 5 | g.78780405A>T | CA360338778 | ARSB | c.1594T>A (p.Trp532Arg) n.559T>A | |
| 5 | g.78780406A>C | CA445400191 | ARSB | c.1593T>G (p.Pro531=) n.558T>G | |
| 5 | g.78780406A>G | CA445400192 | ARSB | c.1593T>C (p.Pro531=) n.558T>C | gnomAD v4 |
| 5 | g.78780406A>T | CA445400193 | ARSB | c.1593T>A (p.Pro531=) n.558T>A | |
| 5 | g.78780407G>A | CA360338779 | ARSB | c.1592C>T (p.Pro531Leu) n.557C>T | |
| 5 | g.78780407G>C | CA360338780 | ARSB | c.1592C>G (p.Pro531Arg) n.557C>G | ClinVar dbSNP |
| 5 | g.78780407G= | CA1557615251 | ARSB | c.1592C= (p.Pro531=) n.557C= | |
| 5 | g.78780407G>T | CA360338781 | ARSB | c.1592C>A (p.Pro531His) n.557C>A | |
| 5 | g.78780408G>A | CA360338782 | ARSB | c.1591C>T (p.Pro531Ser) n.556C>T | dbSNP gnomAD v4 |
| 5 | g.78780408G>C | CA360338784 | ARSB | c.1591C>G (p.Pro531Ala) n.556C>G | |
| 5 | g.78780408G= | CA1557615254 | ARSB | c.1591C= (p.Pro531=) n.556C= | |
| 5 | g.78780408G>T | CA360338783 | ARSB | c.1591C>A (p.Pro531Thr) n.556C>A | |
| 5 | g.78780409G>A | CA445400197 | ARSB | c.1590C>T (p.Gly530=) n.555C>T | |
| 5 | g.78780409G>C | CA445400196 | ARSB | c.1590C>G (p.Gly530=) n.555C>G | |
| 5 | g.78780409G= | CA1557615257 | ARSB | c.1590C= (p.Gly530=) n.555C= | |
| 5 | g.78780409G>T | CA445400195 | ARSB | c.1590C>A (p.Gly530=) n.555C>A | ClinVar dbSNP |
| 5 | g.78780410C>A | CA360338785 | ARSB | c.1589G>T (p.Gly530Val) n.554G>T | |
| 5 | g.78780410C>G | CA360338786 | ARSB | c.1589G>C (p.Gly530Ala) n.554G>C | |
| 5 | g.78780410C>T | CA360338787 | ARSB | c.1589G>A (p.Gly530Asp) n.554G>A | |
| 5 | g.78780411C>A | CA360338788 | ARSB | c.1588G>T (p.Gly530Cys) n.553G>T | |
| 5 | g.78780411C>G | CA360338789 | ARSB | c.1588G>C (p.Gly530Arg) n.553G>C | |
| 5 | g.78780411C>T | CA360338790 | ARSB | c.1588G>A (p.Gly530Ser) n.553G>A | |
| 5 | g.78780412C>A | CA360338791 | ARSB | c.1587G>T (p.Trp529Cys) n.552G>T | |
| 5 | g.78780412C>G | CA360338792 | ARSB | c.1587G>C (p.Trp529Cys) n.552G>C | gnomAD v4 |
| 5 | g.78780412C>T | CA360338793 | ARSB | c.1587G>A (p.Trp529Ter) n.552G>A | |
| 5 | g.78780413C>A | CA360338795 | ARSB | c.1586G>T (p.Trp529Leu) n.551G>T | |
| 5 | g.78780413C>G | CA360338796 | ARSB | c.1586G>C (p.Trp529Ser) n.551G>C | |
| 5 | g.78780413C>T | CA360338794 | ARSB | c.1586G>A (p.Trp529Ter) n.551G>A | |
| 5 | g.78780414A>C | CA360338797 | ARSB | c.1585T>G (p.Trp529Gly) n.550T>G | |
| 5 | g.78780414A>G | CA360338798 | ARSB | c.1585T>C (p.Trp529Arg) n.550T>C | |
| 5 | g.78780414A>T | CA360338799 | ARSB | c.1585T>A (p.Trp529Arg) n.550T>A | |
| 5 | g.78780415C>A | CA445400207 | ARSB | c.1584G>T (p.Val528=) n.549G>T | |
| 5 | g.78780415C= | CA1557615266 | ARSB | c.1584G= (p.Val528=) n.549G= | |
| 5 | g.78780415C>G | CA445400210 | ARSB | c.1584G>C (p.Val528=) n.549G>C | |
| 5 | g.78780415C>T | CA121679129 | ARSB | c.1584G>A (p.Val528=) n.549G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780416A>C | CA360338800 | ARSB | c.1583T>G (p.Val528Gly) n.548T>G | gnomAD v4 |
| 5 | g.78780416A>G | CA360338801 | ARSB | c.1583T>C (p.Val528Ala) n.548T>C | |
| 5 | g.78780416A>T | CA360338802 | ARSB | c.1583T>A (p.Val528Glu) n.548T>A | |
| 5 | g.78780417C>A | CA360338803 | ARSB | c.1582G>T (p.Val528Leu) n.547G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780417C= | CA1557615275 | ARSB | c.1582G= (p.Val528=) n.547G= | |
| 5 | g.78780417C>G | CA360338804 | ARSB | c.1582G>C (p.Val528Leu) n.547G>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780417C>T | CA360338805 | ARSB | c.1582G>A (p.Val528Met) n.547G>A | gnomAD v4 |
| 5 | g.78780420del | CA2674366588 | ARSB | c.1582del (p.Val528CysfsTer?) n.547del | gnomAD v4 |
| 5 | g.78780418C>A | CA445400216 | ARSB | c.1581G>T (p.Gly527=) n.546G>T | |
| 5 | g.78780418C>G | CA445400217 | ARSB | c.1581G>C (p.Gly527=) n.546G>C | ClinVar |
| 5 | g.78780418C>T | CA445400218 | ARSB | c.1581G>A (p.Gly527=) n.546G>A | gnomAD v4 |
| 5 | g.78780419C>A | CA360338806 | ARSB | c.1580G>T (p.Gly527Val) n.545G>T | |
| 5 | g.78780419C>G | CA360338807 | ARSB | c.1580G>C (p.Gly527Ala) n.545G>C | |
| 5 | g.78780419C>T | CA360338808 | ARSB | c.1580G>A (p.Gly527Glu) n.545G>A | |
| 5 | g.78780419_78780420insAAACACACCCAACA | CA2767130505 | ARSB | c.1579_1580insTGTTGGGTGTGTTT (p.Gly527ValfsTer?) n.544_545insTGTTGGGTGTGTTT | |
| 5 | g.78780420C>A | CA360338809 | ARSB | c.1579G>T (p.Gly527Trp) n.544G>T | gnomAD v4 |
| 5 | g.78780420C= | CA1557615279 | ARSB | c.1579G= (p.Gly527=) n.544G= | |
| 5 | g.78780420C>G | CA360338810 | ARSB | c.1579G>C (p.Gly527Arg) n.544G>C | |
| 5 | g.78780420C>T | CA3317957 | ARSB | c.1579G>A (p.Gly527Arg) n.544G>A | dbSNP ExAC gnomAD v2 |
| 5 | g.78780421A>C | CA445400224 | ARSB | c.1578T>G (p.Thr526=) n.543T>G | |
| 5 | g.78780421A>G | CA445400226 | ARSB | c.1578T>C (p.Thr526=) n.543T>C | ClinVar dbSNP |
| 5 | g.78780421A>T | CA445400228 | ARSB | c.1578T>A (p.Thr526=) n.543T>A | |
| 5 | g.78780421_78780422delinsAG | CA1557615284 | ARSB | c.1577_1578delinsCT (p.Thr526=) n.542_543delinsCT | |
| 5 | g.78780422del | CA658822422 | ARSB | c.1577del (p.Thr526MetfsTer?) n.542del | ClinVar dbSNP |
| 5 | g.78780422G>A | CA360338811 | ARSB | c.1577C>T (p.Thr526Ile) n.542C>T | gnomAD v4 |
| 5 | g.78780422G>C | CA360338812 | ARSB | c.1577C>G (p.Thr526Ser) n.542C>G | |
| 5 | g.78780422G>T | CA360338813 | ARSB | c.1577C>A (p.Thr526Asn) n.542C>A | gnomAD v4 |
| 5 | g.78780423T>A | CA360338814 | ARSB | c.1576A>T (p.Thr526Ser) n.541A>T | |
| 5 | g.78780423T>C | CA360338815 | ARSB | c.1576A>G (p.Thr526Ala) n.541A>G | |
| 5 | g.78780423T>G | CA360338816 | ARSB | c.1576A>C (p.Thr526Pro) n.541A>C | |
| 5 | g.78780424G>A | CA445400230 | ARSB | c.1575C>T (p.Ala525=) n.540C>T | |
| 5 | g.78780424G>C | CA445400231 | ARSB | c.1575C>G (p.Ala525=) n.540C>G | |
| 5 | g.78780424G>T | CA445400232 | ARSB | c.1575C>A (p.Ala525=) n.540C>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78780425G>A | CA360338817 | ARSB | c.1574C>T (p.Ala525Val) n.539C>T | gnomAD v4 |
| 5 | g.78780425G>C | CA360338819 | ARSB | c.1574C>G (p.Ala525Gly) n.539C>G | |
| 5 | g.78780425G>T | CA360338818 | ARSB | c.1574C>A (p.Ala525Asp) n.539C>A | |
| 5 | g.78780426C>A | CA360338820 | ARSB | c.1573G>T (p.Ala525Ser) n.538G>T | |
| 5 | g.78780426C>G | CA360338821 | ARSB | c.1573G>C (p.Ala525Pro) n.538G>C | |
| 5 | g.78780426C>T | CA360338822 | ARSB | c.1573G>A (p.Ala525Thr) n.538G>A | |
| 5 | g.78780427C>A | CA360338823 | ARSB | c.1572G>T (p.Lys524Asn) n.537G>T | |
| 5 | g.78780427C>G | CA360338824 | ARSB | c.1572G>C (p.Lys524Asn) n.537G>C | |
| 5 | g.78780427C>T | CA445400238 | ARSB | c.1572G>A (p.Lys524=) n.537G>A | |
| 5 | g.78780428T>A | CA360338827 | ARSB | c.1571A>T (p.Lys524Met) n.536A>T | |
| 5 | g.78780428T>C | CA360338826 | ARSB | c.1571A>G (p.Lys524Arg) n.536A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780428T>G | CA360338825 | ARSB | c.1571A>C (p.Lys524Thr) n.536A>C | |
| 5 | g.78780428T= | CA1557615296 | ARSB | c.1571A= (p.Lys524=) n.536A= | |
| 5 | g.78780429T>A | CA360338828 | ARSB | c.1570A>T (p.Lys524Ter) n.535A>T | |
| 5 | g.78780429T>C | CA3317958 | ARSB | c.1570A>G (p.Lys524Glu) n.535A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780429T>G | CA360338829 | ARSB | c.1570A>C (p.Lys524Gln) n.535A>C | |
| 5 | g.78780429T= | CA1557615301 | ARSB | c.1570A= (p.Lys524=) n.535A= | |
| 5 | g.78780430G>A | CA445400243 | ARSB | c.1569C>T (p.Pro523=) n.534C>T | gnomAD v4 |
| 5 | g.78780430G>C | CA445400244 | ARSB | c.1569C>G (p.Pro523=) n.534C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780430G= | CA1557615306 | ARSB | c.1569C= (p.Pro523=) n.534C= | |
| 5 | g.78780430G>T | CA445400242 | ARSB | c.1569C>A (p.Pro523=) n.534C>A | |
| 5 | g.78780431G>A | CA360338830 | ARSB | c.1568C>T (p.Pro523Leu) n.533C>T | |
| 5 | g.78780431G>C | CA360338832 | ARSB | c.1568C>G (p.Pro523Arg) n.533C>G | |
| 5 | g.78780431G>T | CA360338831 | ARSB | c.1568C>A (p.Pro523His) n.533C>A | |
| 5 | g.78780432G>A | CA360338833 | ARSB | c.1567C>T (p.Pro523Ser) n.532C>T | |
| 5 | g.78780432G>C | CA360338834 | ARSB | c.1567C>G (p.Pro523Ala) n.532C>G | |
| 5 | g.78780432G>T | CA360338835 | ARSB | c.1567C>A (p.Pro523Thr) n.532C>A | |
| 5 | g.78780433A>C | CA360338836 | ARSB | c.1566T>G (p.Asp522Glu) n.531T>G | |
| 5 | g.78780433A>G | CA445400252 | ARSB | c.1566T>C (p.Asp522=) n.531T>C | |
| 5 | g.78780433A>T | CA360338837 | ARSB | c.1566T>A (p.Asp522Glu) n.531T>A | |
| 5 | g.78780434T>A | CA360338838 | ARSB | c.1565A>T (p.Asp522Val) n.530A>T | |
| 5 | g.78780434T>C | CA360338839 | ARSB | c.1565A>G (p.Asp522Gly) n.530A>G | |
| 5 | g.78780434T>G | CA360338840 | ARSB | c.1565A>C (p.Asp522Ala) n.530A>C | |
| 5 | g.78780435C>A | CA360338841 | ARSB | c.1564G>T (p.Asp522Tyr) n.529G>T | gnomAD v4 |
| 5 | g.78780435C>G | CA360338842 | ARSB | c.1564G>C (p.Asp522His) n.529G>C | |
| 5 | g.78780435C>T | CA360338843 | ARSB | c.1564G>A (p.Asp522Asn) n.529G>A | |
| 5 | g.78780436A>C | CA360338844 | ARSB | c.1563T>G (p.Cys521Trp) n.528T>G | |
| 5 | g.78780436A>G | CA445400255 | ARSB | c.1563T>C (p.Cys521=) n.528T>C | |
| 5 | g.78780436A>T | CA360338845 | ARSB | c.1563T>A (p.Cys521Ter) n.528T>A | |
| 5 | g.78780437C>A | CA360338846 | ARSB | c.1562G>T (p.Cys521Phe) n.527G>T | |
| 5 | g.78780437C= | CA1557615308 | ARSB | c.1562G= (p.Cys521=) n.527G= | |
| 5 | g.78780437C>G | CA360338848 | ARSB | c.1562G>C (p.Cys521Ser) n.527G>C | |
| 5 | g.78780437C>T | CA360338847 | ARSB | c.1562G>A (p.Cys521Tyr) n.527G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78780438A>C | CA360338849 | ARSB | c.1561T>G (p.Cys521Gly) n.526T>G | |
| 5 | g.78780438A>G | CA360338850 | ARSB | c.1561T>C (p.Cys521Arg) n.526T>C | |
| 5 | g.78780438A>T | CA360338851 | ARSB | c.1561T>A (p.Cys521Ser) n.526T>A | |
| 5 | g.78780439G>A | CA3317959 | ARSB | c.1560C>T (p.Arg520=) n.525C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780439G>C | CA445400258 | ARSB | c.1560C>G (p.Arg520=) n.525C>G | |
| 5 | g.78780439G= | CA1557615321 | ARSB | c.1560C= (p.Arg520=) n.525C= | |
| 5 | g.78780439G>T | CA445400259 | ARSB | c.1560C>A (p.Arg520=) n.525C>A | |
| 5 | g.78780440C>A | CA360338852 | ARSB | c.1559G>T (p.Arg520Leu) n.524G>T | |
| 5 | g.78780440C= | CA1557615324 | ARSB | c.1559G= (p.Arg520=) n.524G= | |
| 5 | g.78780440C>G | CA360338853 | ARSB | c.1559G>C (p.Arg520Pro) n.524G>C | |
| 5 | g.78780440C>T | CA121679130 | ARSB | c.1559G>A (p.Arg520His) n.524G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780441G>A | CA3317960 | ARSB | c.1558C>T (p.Arg520Cys) n.523C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780441G>C | CA360338854 | ARSB | c.1558C>G (p.Arg520Gly) n.523C>G | gnomAD v4 |
| 5 | g.78780441G= | CA1557615326 | ARSB | c.1558C= (p.Arg520=) n.523C= | |
| 5 | g.78780441G>T | CA360338855 | ARSB | c.1558C>A (p.Arg520Ser) n.523C>A | |
| 5 | g.78780445dup | CA814255637 | ARSB | c.1558dup (p.Arg520ProfsTer3) n.523dup | ClinVar dbSNP |
| 5 | g.78780445del | CA2499217912 | ARSB | c.1558del (p.Arg520AlafsTer?) n.523del | ClinVar dbSNP |
| 5 | g.78780442G>A | CA445400265 | ARSB | c.1557C>T (p.Pro519=) n.522C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780442G>C | CA445400266 | ARSB | c.1557C>G (p.Pro519=) n.522C>G | |
| 5 | g.78780442G= | CA1557615334 | ARSB | c.1557C= (p.Pro519=) n.522C= | |
| 5 | g.78780442G>T | CA445400267 | ARSB | c.1557C>A (p.Pro519=) n.522C>A | |
| 5 | g.78780442_78780465delinsGGGGTCCTGTGCAGGGAAGTACAC | CA1557615332 | ARSB | c.1534_1557delinsGTGTACTTCCCTGCACAGGACCCC (p.Val512=) n.499_522delinsGTGTACTTCCCTGCACAGGACCCC | |
| 5 | g.78780443G>A | CA360338858 | ARSB | c.1556C>T (p.Pro519Leu) n.521C>T | gnomAD v4 |
| 5 | g.78780443G>C | CA360338857 | ARSB | c.1556C>G (p.Pro519Arg) n.521C>G | gnomAD v4 |
| 5 | g.78780443G>T | CA360338856 | ARSB | c.1556C>A (p.Pro519His) n.521C>A | |
| 5 | g.78780446_78780468del | CA560770412 | ARSB | c.1534_1556del (p.Val512ProfsTer3) n.499_521del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780444G>A | CA360338861 | ARSB | c.1555C>T (p.Pro519Ser) n.520C>T | |
| 5 | g.78780444G>C | CA360338859 | ARSB | c.1555C>G (p.Pro519Ala) n.520C>G | |
| 5 | g.78780444G>T | CA360338860 | ARSB | c.1555C>A (p.Pro519Thr) n.520C>A | |
| 5 | g.78780445G>A | CA445400271 | ARSB | c.1554C>T (p.Asp518=) n.519C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780445G>C | CA360338862 | ARSB | c.1554C>G (p.Asp518Glu) n.519C>G | |
| 5 | g.78780445G= | CA1557615342 | ARSB | c.1554C= (p.Asp518=) n.519C= | |
| 5 | g.78780445G>T | CA360338863 | ARSB | c.1554C>A (p.Asp518Glu) n.519C>A | ClinVar dbSNP |
| 5 | g.78780446T>A | CA360338864 | ARSB | c.1553A>T (p.Asp518Val) n.518A>T | |
| 5 | g.78780446T>C | CA360338865 | ARSB | c.1553A>G (p.Asp518Gly) n.518A>G | |
| 5 | g.78780446T>G | CA360338866 | ARSB | c.1553A>C (p.Asp518Ala) n.518A>C | |
| 5 | g.78780447C>A | CA360338867 | ARSB | c.1552G>T (p.Asp518Tyr) n.517G>T | |
| 5 | g.78780447C>G | CA360338868 | ARSB | c.1552G>C (p.Asp518His) n.517G>C | |
| 5 | g.78780447C>T | CA360338869 | ARSB | c.1552G>A (p.Asp518Asn) n.517G>A | |
| 5 | g.78780448C>A | CA360338870 | ARSB | c.1551G>T (p.Gln517His) n.516G>T | |
| 5 | g.78780448C>G | CA360338871 | ARSB | c.1551G>C (p.Gln517His) n.516G>C | |
| 5 | g.78780448C>T | CA445400280 | ARSB | c.1551G>A (p.Gln517=) n.516G>A | |
| 5 | g.78780449T>A | CA360338874 | ARSB | c.1550A>T (p.Gln517Leu) n.515A>T | |
| 5 | g.78780449T>C | CA360338873 | ARSB | c.1550A>G (p.Gln517Arg) n.515A>G | |
| 5 | g.78780449T>G | CA360338872 | ARSB | c.1550A>C (p.Gln517Pro) n.515A>C | |
| 5 | g.78780450G>A | CA360338875 | ARSB | c.1549C>T (p.Gln517Ter) n.514C>T | |
| 5 | g.78780450G>C | CA360338876 | ARSB | c.1549C>G (p.Gln517Glu) n.514C>G | |
| 5 | g.78780450G>T | CA360338877 | ARSB | c.1549C>A (p.Gln517Lys) n.514C>A | |
| 5 | g.78780451T>A | CA445400286 | ARSB | c.1548A>T (p.Ala516=) n.513A>T | |
| 5 | g.78780451T>C | CA445400285 | ARSB | c.1548A>G (p.Ala516=) n.513A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780451T>G | CA445400284 | ARSB | c.1548A>C (p.Ala516=) n.513A>C | ClinVar dbSNP |
| 5 | g.78780451T= | CA1557615345 | ARSB | c.1548A= (p.Ala516=) n.513A= | |
| 5 | g.78780452G>A | CA3317961 | ARSB | c.1547C>T (p.Ala516Val) n.512C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780452G>C | CA360338878 | ARSB | c.1547C>G (p.Ala516Gly) n.512C>G | |
| 5 | g.78780452G= | CA1557615349 | ARSB | c.1547C= (p.Ala516=) n.512C= | |
| 5 | g.78780452G>T | CA360338879 | ARSB | c.1547C>A (p.Ala516Glu) n.512C>A | |
| 5 | g.78780453C>A | CA360338880 | ARSB | c.1546G>T (p.Ala516Ser) n.511G>T | dbSNP |
| 5 | g.78780453C= | CA1557615357 | ARSB | c.1546G= (p.Ala516=) n.511G= | |
| 5 | g.78780453C>G | CA360338881 | ARSB | c.1546G>C (p.Ala516Pro) n.511G>C | |
| 5 | g.78780453C>T | CA3317962 | ARSB | c.1546G>A (p.Ala516Thr) n.511G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780454A= | CA1557615362 | ARSB | c.1545T= (p.Pro515=) n.510T= | |
| 5 | g.78780454A>C | CA3317963 | ARSB | c.1545T>G (p.Pro515=) n.510T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780454A>G | CA445400293 | ARSB | c.1545T>C (p.Pro515=) n.510T>C | |
| 5 | g.78780454A>T | CA445400292 | ARSB | c.1545T>A (p.Pro515=) n.510T>A | |
| 5 | g.78780455G>A | CA360338882 | ARSB | c.1544C>T (p.Pro515Leu) n.509C>T | |
| 5 | g.78780455G>C | CA360338883 | ARSB | c.1544C>G (p.Pro515Arg) n.509C>G | |
| 5 | g.78780455G>T | CA360338884 | ARSB | c.1544C>A (p.Pro515His) n.509C>A | |
| 5 | g.78780456G>A | CA121679131 | ARSB | c.1543C>T (p.Pro515Ser) n.508C>T | dbSNP |
| 5 | g.78780456G>C | CA360338886 | ARSB | c.1543C>G (p.Pro515Ala) n.508C>G | |
| 5 | g.78780456G= | CA1557615365 | ARSB | c.1543C= (p.Pro515=) n.508C= | |
| 5 | g.78780456G>T | CA360338885 | ARSB | c.1543C>A (p.Pro515Thr) n.508C>A | |
| 5 | g.78780457G>A | CA121679132 | ARSB | c.1542C>T (p.Phe514=) n.507C>T | dbSNP |
| 5 | g.78780457G>C | CA360338888 | ARSB | c.1542C>G (p.Phe514Leu) n.507C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780457G= | CA1557615369 | ARSB | c.1542C= (p.Phe514=) n.507C= | |
| 5 | g.78780457G>T | CA360338887 | ARSB | c.1542C>A (p.Phe514Leu) n.507C>A | |
| 5 | g.78780458A>C | CA360338889 | ARSB | c.1541T>G (p.Phe514Cys) n.506T>G | gnomAD v4 |
| 5 | g.78780458A>G | CA360338890 | ARSB | c.1541T>C (p.Phe514Ser) n.506T>C | |
| 5 | g.78780458A>T | CA360338891 | ARSB | c.1541T>A (p.Phe514Tyr) n.506T>A | |
| 5 | g.78780459A>C | CA360338892 | ARSB | c.1540T>G (p.Phe514Val) n.505T>G | gnomAD v4 |
| 5 | g.78780459A>G | CA360338893 | ARSB | c.1540T>C (p.Phe514Leu) n.505T>C | |
| 5 | g.78780459A>T | CA360338894 | ARSB | c.1540T>A (p.Phe514Ile) n.505T>A | |
| 5 | g.78780460G>A | CA445400306 | ARSB | c.1539C>T (p.Tyr513=) n.504C>T | |
| 5 | g.78780460G>C | CA360338895 | ARSB | c.1539C>G (p.Tyr513Ter) n.504C>G | ClinVar dbSNP |
| 5 | g.78780460G= | CA1557615380 | ARSB | c.1539C= (p.Tyr513=) n.504C= | |
| 5 | g.78780460G>T | CA360338896 | ARSB | c.1539C>A (p.Tyr513Ter) n.504C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780461T>A | CA360338897 | ARSB | c.1538A>T (p.Tyr513Phe) n.503A>T | |
| 5 | g.78780461T>C | CA360338898 | ARSB | c.1538A>G (p.Tyr513Cys) n.503A>G | COSMIC |
| 5 | g.78780461T>G | CA360338899 | ARSB | c.1538A>C (p.Tyr513Ser) n.503A>C | |
| 5 | g.78780462A= | CA1557615391 | ARSB | c.1537T= (p.Tyr513=) n.502T= | |
| 5 | g.78780462A>C | CA360338901 | ARSB | c.1537T>G (p.Tyr513Asp) n.502T>G | |
| 5 | g.78780462A>G | CA121679133 | ARSB | c.1537T>C (p.Tyr513His) n.502T>C | dbSNP |
| 5 | g.78780462A>T | CA360338900 | ARSB | c.1537T>A (p.Tyr513Asn) n.502T>A |