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.78780442_78780465delinsGGGGTCCTGTGCAGGGAAGTACAC | CA1557615332 | ARSB | c.1534_1557delinsGTGTACTTCCCTGCACAGGACCCC (p.Val512=) n.499_522delinsGTGTACTTCCCTGCACAGGACCCC | |
| 5 | g.78780446_78780468del | CA560770412 | ARSB | c.1534_1556del (p.Val512ProfsTer3) n.499_521del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 | |
| 5 | g.78780463C>A | CA445400310 | ARSB | c.1536G>T (p.Val512=) n.501G>T | |
| 5 | g.78780463C>G | CA445400309 | ARSB | c.1536G>C (p.Val512=) n.501G>C | |
| 5 | g.78780463C>T | CA445400308 | ARSB | c.1536G>A (p.Val512=) n.501G>A | |
| 5 | g.78780464A>C | CA360338902 | ARSB | c.1535T>G (p.Val512Gly) n.500T>G | gnomAD v4 |
| 5 | g.78780464A>G | CA360338903 | ARSB | c.1535T>C (p.Val512Ala) n.500T>C | gnomAD v4 |
| 5 | g.78780464A>T | CA360338904 | ARSB | c.1535T>A (p.Val512Glu) n.500T>A | |
| 5 | g.78780465C>A | CA360338905 | ARSB | c.1534G>T (p.Val512Leu) n.499G>T | dbSNP gnomAD v4 |
| 5 | g.78780465C= | CA1557615401 | ARSB | c.1534G= (p.Val512=) n.499G= | |
| 5 | g.78780465C>G | CA360338906 | ARSB | c.1534G>C (p.Val512Leu) n.499G>C | |
| 5 | g.78780465C>T | CA3317964 | ARSB | c.1534G>A (p.Val512Met) n.499G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78780465_78780466delinsCG | CA1557615409 | ARSB | c.1533_1534delinsCG (p.Pro511=) n.498_499delinsCG | |
| 5 | g.78780466G>A | CA3317966 | ARSB | c.1533C>T (p.Pro511=) n.498C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78780466G>C | CA445400323 | ARSB | c.1533C>G (p.Pro511=) n.498C>G | |
| 5 | g.78780466G= | CA1557615419 | ARSB | c.1533C= (p.Pro511=) n.498C= | |
| 5 | g.78780466G>T | CA445400324 | ARSB | c.1533C>A (p.Pro511=) n.498C>A | |
| 5 | g.78780469del | CA3317965 | ARSB | c.1533del (p.Val512CysfsTer?) n.498del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78780467G>A | CA360338907 | ARSB | c.1532C>T (p.Pro511Leu) n.497C>T | |
| 5 | g.78780467G>C | CA360338908 | ARSB | c.1532C>G (p.Pro511Arg) n.497C>G | |
| 5 | g.78780467G>T | CA360338909 | ARSB | c.1532C>A (p.Pro511His) n.497C>A | |
| 5 | g.78780468G>A | CA360338912 | ARSB | c.1531C>T (p.Pro511Ser) n.496C>T | gnomAD v4 |
| 5 | g.78780468G>C | CA360338911 | ARSB | c.1531C>G (p.Pro511Ala) n.496C>G | gnomAD v4 |
| 5 | g.78780468G>T | CA360338910 | ARSB | c.1531C>A (p.Pro511Thr) n.496C>A | |
| 5 | g.78780469G>A | CA445400328 | ARSB | c.1530C>T (p.Val510=) n.495C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78780469G>C | CA445400330 | ARSB | c.1530C>G (p.Val510=) n.495C>G | dbSNP |
| 5 | g.78780469G>T | CA445400331 | ARSB | c.1530C>A (p.Val510=) n.495C>A | |
| 5 | g.78780470A>C | CA360338913 | ARSB | c.1529T>G (p.Val510Gly) n.494T>G | |
| 5 | g.78780470A>G | CA360338914 | ARSB | c.1529T>C (p.Val510Ala) n.494T>C | COSMIC |
| 5 | g.78780470A>T | CA360338915 | ARSB | c.1529T>A (p.Val510Asp) n.494T>A | |
| 5 | g.78780471C>A | CA360338916 | ARSB | c.1528G>T (p.Val510Phe) n.493G>T | |
| 5 | g.78780471C>G | CA360338917 | ARSB | c.1528G>C (p.Val510Leu) n.493G>C | |
| 5 | g.78780471C>T | CA360338918 | ARSB | c.1528G>A (p.Val510Ile) n.493G>A | |
| 5 | g.78780472T>A | CA445400334 | ARSB | c.1527A>T (p.Ser509=) n.492A>T | |
| 5 | g.78780472T>C | CA445400335 | ARSB | c.1527A>G (p.Ser509=) n.492A>G | |
| 5 | g.78780472T>G | CA445400333 | ARSB | c.1527A>C (p.Ser509=) n.492A>C | |
| 5 | g.78780473G>A | CA360338921 | ARSB | c.1526C>T (p.Ser509Leu) n.491C>T | |
| 5 | g.78780473G>C | CA360338919 | ARSB | c.1526C>G (p.Ser509Ter) n.491C>G | |
| 5 | g.78780473G>T | CA360338920 | ARSB | c.1526C>A (p.Ser509Ter) n.491C>A | |
| 5 | g.78780474A>C | CA360338922 | ARSB | c.1525T>G (p.Ser509Ala) n.490T>G | |
| 5 | g.78780474A>G | CA360338923 | ARSB | c.1525T>C (p.Ser509Pro) n.490T>C | |
| 5 | g.78780474A>T | CA360338924 | ARSB | c.1525T>A (p.Ser509Thr) n.490T>A | |
| 5 | g.78780475G>A | CA445400338 | ARSB | c.1524C>T (p.His508=) n.489C>T | |
| 5 | g.78780475G>C | CA360338925 | ARSB | c.1524C>G (p.His508Gln) n.489C>G | |
| 5 | g.78780475G>T | CA360338926 | ARSB | c.1524C>A (p.His508Gln) n.489C>A | |
| 5 | g.78780476T>A | CA360338927 | ARSB | c.1523A>T (p.His508Leu) n.488A>T | |
| 5 | g.78780476T>C | CA360338929 | ARSB | c.1523A>G (p.His508Arg) n.488A>G | |
| 5 | g.78780476T>G | CA360338928 | ARSB | c.1523A>C (p.His508Pro) n.488A>C | |
| 5 | g.78780477G>A | CA3317967 | ARSB | c.1522C>T (p.His508Tyr) n.487C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780477G>C | CA360338930 | ARSB | c.1522C>G (p.His508Asp) n.487C>G | |
| 5 | g.78780477G= | CA1557615425 | ARSB | c.1522C= (p.His508=) n.487C= | |
| 5 | g.78780477G>T | CA360338931 | ARSB | c.1522C>A (p.His508Asn) n.487C>A | |
| 5 | g.78780478T>A | CA360338932 | ARSB | c.1521A>T (p.Lys507Asn) n.486A>T | |
| 5 | g.78780478T>C | CA445400344 | ARSB | c.1521A>G (p.Lys507=) n.486A>G | |
| 5 | g.78780478T>G | CA360338933 | ARSB | c.1521A>C (p.Lys507Asn) n.486A>C | |
| 5 | g.78780480dup | CA2697547256 | ARSB | c.1521dup (p.His508ThrfsTer15) n.486dup | ClinVar |
| 5 | g.78780479T>A | CA360338934 | ARSB | c.1520A>T (p.Lys507Ile) n.485A>T | |
| 5 | g.78780479T>C | CA360338935 | ARSB | c.1520A>G (p.Lys507Arg) n.485A>G | |
| 5 | g.78780479T>G | CA360338936 | ARSB | c.1520A>C (p.Lys507Thr) n.485A>C | |
| 5 | g.78780480T>A | CA360338937 | ARSB | c.1519A>T (p.Lys507Ter) n.484A>T | |
| 5 | g.78780480T>C | CA360338938 | ARSB | c.1519A>G (p.Lys507Glu) n.484A>G | |
| 5 | g.78780480T>G | CA360338939 | ARSB | c.1519A>C (p.Lys507Gln) n.484A>C | |
| 5 | g.78780481A>C | CA360338941 | ARSB | c.1518T>G (p.His506Gln) n.483T>G | |
| 5 | g.78780481A>G | CA445400351 | ARSB | c.1518T>C (p.His506=) n.483T>C | |
| 5 | g.78780481A>T | CA360338940 | ARSB | c.1518T>A (p.His506Gln) n.483T>A | |
| 5 | g.78780482T>A | CA360338942 | ARSB | c.1517A>T (p.His506Leu) n.482A>T | |
| 5 | g.78780482T>C | CA3317968 | ARSB | c.1517A>G (p.His506Arg) n.482A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780482T>G | CA360338943 | ARSB | c.1517A>C (p.His506Pro) n.482A>C | |
| 5 | g.78780482T= | CA1557615431 | ARSB | c.1517A= (p.His506=) n.482A= | |
| 5 | g.78780483G>A | CA360338944 | ARSB | c.1516C>T (p.His506Tyr) n.481C>T | dbSNP gnomAD v4 |
| 5 | g.78780483G>C | CA360338946 | ARSB | c.1516C>G (p.His506Asp) n.481C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780483G= | CA1557615432 | ARSB | c.1516C= (p.His506=) n.481C= | |
| 5 | g.78780483G>T | CA360338945 | ARSB | c.1516C>A (p.His506Asn) n.481C>A | |
| 5 | g.78780484G>A | CA445400357 | ARSB | c.1515C>T (p.Tyr505=) n.480C>T | ClinVar dbSNP |
| 5 | g.78780484G>C | CA360338947 | ARSB | c.1515C>G (p.Tyr505Ter) n.480C>G | |
| 5 | g.78780484G= | CA1557615437 | ARSB | c.1515C= (p.Tyr505=) n.480C= | |
| 5 | g.78780484G>T | CA360338948 | ARSB | c.1515C>A (p.Tyr505Ter) n.480C>A | |
| 5 | g.78780485T>A | CA360338949 | ARSB | c.1514A>T (p.Tyr505Phe) n.479A>T | |
| 5 | g.78780485T>C | CA3317969 | ARSB | c.1514A>G (p.Tyr505Cys) n.479A>G | dbSNP ExAC gnomAD v4 |
| 5 | g.78780485T>G | CA360338950 | ARSB | c.1514A>C (p.Tyr505Ser) n.479A>C | |
| 5 | g.78780485T= | CA1557615440 | ARSB | c.1514A= (p.Tyr505=) n.479A= | |
| 5 | g.78780486A= | CA1557615446 | ARSB | c.1513T= (p.Tyr505=) n.478T= | |
| 5 | g.78780486A>C | CA360338951 | ARSB | c.1513T>G (p.Tyr505Asp) n.478T>G | |
| 5 | g.78780486A>G | CA360338952 | ARSB | c.1513T>C (p.Tyr505His) n.478T>C | dbSNP |
| 5 | g.78780486A>T | CA360338953 | ARSB | c.1513T>A (p.Tyr505Asn) n.478T>A | |
| 5 | g.78780487G>A | CA445400365 | ARSB | c.1512C>T (p.Phe504=) n.477C>T | dbSNP |
| 5 | g.78780487G>C | CA3317970 | ARSB | c.1512C>G (p.Phe504Leu) n.477C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780487G= | CA1557615450 | ARSB | c.1512C= (p.Phe504=) n.477C= | |
| 5 | g.78780487G>T | CA360338954 | ARSB | c.1512C>A (p.Phe504Leu) n.477C>A | |
| 5 | g.78780488A>C | CA360338955 | ARSB | c.1511T>G (p.Phe504Cys) n.476T>G | |
| 5 | g.78780488A>G | CA360338956 | ARSB | c.1511T>C (p.Phe504Ser) n.476T>C | |
| 5 | g.78780488A>T | CA360338957 | ARSB | c.1511T>A (p.Phe504Tyr) n.476T>A | |
| 5 | g.78780489A>C | CA360338958 | ARSB | c.1510T>G (p.Phe504Val) n.475T>G | |
| 5 | g.78780489A>G | CA360338960 | ARSB | c.1510T>C (p.Phe504Leu) n.475T>C | |
| 5 | g.78780489A>T | CA360338959 | ARSB | c.1510T>A (p.Phe504Ile) n.475T>A | |
| 5 | g.78780490C>A | CA360338961 | ARSB | c.1509G>T (p.Gln503His) n.474G>T | |
| 5 | g.78780490C>G | CA360338962 | ARSB | c.1509G>C (p.Gln503His) n.474G>C | gnomAD v4 |
| 5 | g.78780490C>T | CA445400370 | ARSB | c.1509G>A (p.Gln503=) n.474G>A | gnomAD v4 |
| 5 | g.78780491T>A | CA360338963 | ARSB | c.1508A>T (p.Gln503Leu) n.473A>T | |
| 5 | g.78780491T>C | CA360338964 | ARSB | c.1508A>G (p.Gln503Arg) n.473A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780491T>G | CA360338965 | ARSB | c.1508A>C (p.Gln503Pro) n.473A>C | |
| 5 | g.78780491T= | CA1557615453 | ARSB | c.1508A= (p.Gln503=) n.473A= | |
| 5 | g.78780492G>A | CA3317971 | ARSB | c.1507C>T (p.Gln503Ter) n.472C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780492G>C | CA360338966 | ARSB | c.1507C>G (p.Gln503Glu) n.472C>G | |
| 5 | g.78780492G= | CA1557615463 | ARSB | c.1507C= (p.Gln503=) n.472C= | |
| 5 | g.78780492G>T | CA360338967 | ARSB | c.1507C>A (p.Gln503Lys) n.472C>A | |
| 5 | g.78780493T>A | CA445400375 | ARSB | c.1506A>T (p.Leu502=) n.471A>T | |
| 5 | g.78780493T>C | CA445400374 | ARSB | c.1506A>G (p.Leu502=) n.471A>G | ClinVar gnomAD v4 |
| 5 | g.78780493T>G | CA445400373 | ARSB | c.1506A>C (p.Leu502=) n.471A>C | |
| 5 | g.78780494A>C | CA360338968 | ARSB | c.1505T>G (p.Leu502Arg) n.470T>G | |
| 5 | g.78780494A>G | CA360338969 | ARSB | c.1505T>C (p.Leu502Pro) n.470T>C | |
| 5 | g.78780494A>T | CA360338970 | ARSB | c.1505T>A (p.Leu502Gln) n.470T>A | |
| 5 | g.78780495G>A | CA445400377 | ARSB | c.1504C>T (p.Leu502=) n.469C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78780495G>C | CA360338971 | ARSB | c.1504C>G (p.Leu502Val) n.469C>G | |
| 5 | g.78780495G= | CA1557615470 | ARSB | c.1504C= (p.Leu502=) n.469C= | |
| 5 | g.78780495G>T | CA360338972 | ARSB | c.1504C>A (p.Leu502Ile) n.469C>A | dbSNP gnomAD v4 |
| 5 | g.78780496G>A | CA445400378 | ARSB | c.1503C>T (p.Arg501=) n.468C>T | |
| 5 | g.78780496G>C | CA445400379 | ARSB | c.1503C>G (p.Arg501=) n.468C>G | dbSNP gnomAD v2 |
| 5 | g.78780496G= | CA1557615471 | ARSB | c.1503C= (p.Arg501=) n.468C= | |
| 5 | g.78780496G>T | CA445400380 | ARSB | c.1503C>A (p.Arg501=) n.468C>A | |
| 5 | g.78780497C>A | CA360338973 | ARSB | c.1502G>T (p.Arg501Leu) n.467G>T | |
| 5 | g.78780497C= | CA1557615477 | ARSB | c.1502G= (p.Arg501=) n.467G= | |
| 5 | g.78780497C>G | CA360338974 | ARSB | c.1502G>C (p.Arg501Pro) n.467G>C | |
| 5 | g.78780497C>T | CA3317972 | ARSB | c.1502G>A (p.Arg501His) n.467G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780498G>A | CA360338975 | ARSB | c.1501C>T (p.Arg501Cys) n.466C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78780498G>C | CA360338976 | ARSB | c.1501C>G (p.Arg501Gly) n.466C>G | |
| 5 | g.78780498G= | CA1557615482 | ARSB | c.1501C= (p.Arg501=) n.466C= | |
| 5 | g.78780498G>T | CA360338977 | ARSB | c.1501C>A (p.Arg501Ser) n.466C>A | |
| 5 | g.78780499G>A | CA3317973 | ARSB | c.1500C>T (p.Ser500=) n.465C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780499G>C | CA445400385 | ARSB | c.1500C>G (p.Ser500=) n.465C>G | |
| 5 | g.78780499G= | CA1557615485 | ARSB | c.1500C= (p.Ser500=) n.465C= | |
| 5 | g.78780499G>T | CA445400386 | ARSB | c.1500C>A (p.Ser500=) n.465C>A | |
| 5 | g.78780500G>A | CA360338978 | ARSB | c.1499C>T (p.Ser500Phe) n.464C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.78780500G>C | CA360338979 | ARSB | c.1499C>G (p.Ser500Cys) n.464C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780500G= | CA1557615489 | ARSB | c.1499C= (p.Ser500=) n.464C= | |
| 5 | g.78780500G>T | CA360338980 | ARSB | c.1499C>A (p.Ser500Tyr) n.464C>A | |
| 5 | g.78780501A>C | CA360338981 | ARSB | c.1498T>G (p.Ser500Ala) n.463T>G | |
| 5 | g.78780501A>G | CA360338982 | ARSB | c.1498T>C (p.Ser500Pro) n.463T>C | |
| 5 | g.78780501A>T | CA360338983 | ARSB | c.1498T>A (p.Ser500Thr) n.463T>A | |
| 5 | g.78780502C>A | CA445400387 | ARSB | c.1497G>T (p.Leu499=) n.462G>T | |
| 5 | g.78780502C>G | CA445400388 | ARSB | c.1497G>C (p.Leu499=) n.462G>C | |
| 5 | g.78780502C>T | CA445400389 | ARSB | c.1497G>A (p.Leu499=) n.462G>A | |
| 5 | g.78780503A>C | CA360338986 | ARSB | c.1496T>G (p.Leu499Arg) n.461T>G | |
| 5 | g.78780503A>G | CA360338984 | ARSB | c.1496T>C (p.Leu499Pro) n.461T>C | |
| 5 | g.78780503A>T | CA360338985 | ARSB | c.1496T>A (p.Leu499Gln) n.461T>A | |
| 5 | g.78780504G>A | CA3317974 | ARSB | c.1495C>T (p.Leu499=) n.460C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780504G>C | CA360338987 | ARSB | c.1495C>G (p.Leu499Val) n.460C>G | |
| 5 | g.78780504G= | CA1557615495 | ARSB | c.1495C= (p.Leu499=) n.460C= | |
| 5 | g.78780504G>T | CA360338988 | ARSB | c.1495C>A (p.Leu499Met) n.460C>A | |
| 5 | g.78780505G>A | CA445400393 | ARSB | c.1494C>T (p.Leu498=) n.459C>T | |
| 5 | g.78780505G>C | CA445400391 | ARSB | c.1494C>G (p.Leu498=) n.459C>G | |
| 5 | g.78780505G>T | CA445400392 | ARSB | c.1494C>A (p.Leu498=) n.459C>A | |
| 5 | g.78780506A= | CA1557615502 | ARSB | c.1493T= (p.Leu498=) n.458T= | |
| 5 | g.78780506A>C | CA360338989 | ARSB | c.1493T>G (p.Leu498Arg) n.458T>G | |
| 5 | g.78780506A>G | CA3317975 | ARSB | c.1493T>C (p.Leu498Pro) n.458T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780506A>T | CA360338990 | ARSB | c.1493T>A (p.Leu498His) n.458T>A | |
| 5 | g.78780507G>A | CA360338991 | ARSB | c.1492C>T (p.Leu498Phe) n.457C>T | dbSNP gnomAD v4 |
| 5 | g.78780507G>C | CA360338992 | ARSB | c.1492C>G (p.Leu498Val) n.457C>G | |
| 5 | g.78780507G= | CA1557615512 | ARSB | c.1492C= (p.Leu498=) n.457C= | |
| 5 | g.78780507G>T | CA360338993 | ARSB | c.1492C>A (p.Leu498Ile) n.457C>A | |
| 5 | g.78780508C>A | CA360338994 | ARSB | c.1491G>T (p.Lys497Asn) n.456G>T | |
| 5 | g.78780508C= | CA1557615515 | ARSB | c.1491G= (p.Lys497=) n.456G= | |
| 5 | g.78780508C>G | CA360338995 | ARSB | c.1491G>C (p.Lys497Asn) n.456G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780508C>T | CA445400398 | ARSB | c.1491G>A (p.Lys497=) n.456G>A | |
| 5 | g.78780509T>A | CA360338998 | ARSB | c.1490A>T (p.Lys497Met) n.455A>T | |
| 5 | g.78780509T>C | CA360338997 | ARSB | c.1490A>G (p.Lys497Arg) n.455A>G | |
| 5 | g.78780509T>G | CA360338996 | ARSB | c.1490A>C (p.Lys497Thr) n.455A>C | |
| 5 | g.78780510T>A | CA360338999 | ARSB | c.1489A>T (p.Lys497Ter) n.454A>T | |
| 5 | g.78780510T>C | CA360339001 | ARSB | c.1489A>G (p.Lys497Glu) n.454A>G | |
| 5 | g.78780510T>G | CA360339000 | ARSB | c.1489A>C (p.Lys497Gln) n.454A>C | |
| 5 | g.78780511T>A | CA445400401 | ARSB | c.1488A>T (p.Thr496=) n.453A>T | ClinVar |
| 5 | g.78780511T>C | CA445400402 | ARSB | c.1488A>G (p.Thr496=) n.453A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780511T>G | CA445400403 | ARSB | c.1488A>C (p.Thr496=) n.453A>C | |
| 5 | g.78780511T= | CA1557615516 | ARSB | c.1488A= (p.Thr496=) n.453A= | |
| 5 | g.78780512G>A | CA360339002 | ARSB | c.1487C>T (p.Thr496Ile) n.452C>T | |
| 5 | g.78780512G>C | CA360339003 | ARSB | c.1487C>G (p.Thr496Arg) n.452C>G | |
| 5 | g.78780512G>T | CA360339004 | ARSB | c.1487C>A (p.Thr496Lys) n.452C>A | |
| 5 | g.78780513T>A | CA360339005 | ARSB | c.1486A>T (p.Thr496Ser) n.451A>T | |
| 5 | g.78780513T>C | CA360339006 | ARSB | c.1486A>G (p.Thr496Ala) n.451A>G | |
| 5 | g.78780513T>G | CA360339007 | ARSB | c.1486A>C (p.Thr496Pro) n.451A>C | |
| 5 | g.78780514G>A | CA445400408 | ARSB | c.1485C>T (p.Val495=) n.450C>T | gnomAD v4 |
| 5 | g.78780514G>C | CA445400409 | ARSB | c.1485C>G (p.Val495=) n.450C>G | |
| 5 | g.78780514G>T | CA445400410 | ARSB | c.1485C>A (p.Val495=) n.450C>A | |
| 5 | g.78780515A>C | CA360339008 | ARSB | c.1484T>G (p.Val495Gly) n.449T>G | |
| 5 | g.78780515A>G | CA360339009 | ARSB | c.1484T>C (p.Val495Ala) n.449T>C | |
| 5 | g.78780515A>T | CA360339010 | ARSB | c.1484T>A (p.Val495Asp) n.449T>A | |
| 5 | g.78780516C>A | CA360339011 | ARSB | c.1483G>T (p.Val495Phe) n.448G>T | COSMIC |
| 5 | g.78780516C= | CA1557615520 | ARSB | c.1483G= (p.Val495=) n.448G= | |
| 5 | g.78780516C>G | CA360339012 | ARSB | c.1483G>C (p.Val495Leu) n.448G>C | |
| 5 | g.78780516C>T | CA3317976 | ARSB | c.1483G>A (p.Val495Ile) n.448G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78780516_78780517delinsCG | CA1557615519 | ARSB | c.1482_1483delinsCG (p.Ile494=) n.447_448delinsCG | |
| 5 | g.78780517del | CA658822423 | ARSB | c.1482del (p.Ile494MetfsTer?) n.447del | ClinVar dbSNP |
| 5 | g.78780517G>A | CA3317977 | ARSB | c.1482C>T (p.Ile494=) n.447C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.78780517G>C | CA360339013 | ARSB | c.1482C>G (p.Ile494Met) n.447C>G | |
| 5 | g.78780517G= | CA1557615525 | ARSB | c.1482C= (p.Ile494=) n.447C= | |
| 5 | g.78780517G>T | CA445400416 | ARSB | c.1482C>A (p.Ile494=) n.447C>A | ClinVar |
| 5 | g.78780518A>C | CA360339014 | ARSB | c.1481T>G (p.Ile494Ser) n.446T>G | |
| 5 | g.78780518A>G | CA360339015 | ARSB | c.1481T>C (p.Ile494Thr) n.446T>C | |
| 5 | g.78780518A>T | CA360339016 | ARSB | c.1481T>A (p.Ile494Asn) n.446T>A | |
| 5 | g.78780519T>A | CA360339017 | ARSB | c.1480A>T (p.Ile494Phe) n.445A>T | |
| 5 | g.78780519T>C | CA3317978 | ARSB | c.1480A>G (p.Ile494Val) n.445A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780519T>G | CA360339018 | ARSB | c.1480A>C (p.Ile494Leu) n.445A>C | |
| 5 | g.78780519T= | CA1557615530 | ARSB | c.1480A= (p.Ile494=) n.445A= | |
| 5 | g.78780520G>A | CA3317979 | ARSB | c.1479C>T (p.His493=) n.444C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780520G>C | CA360339019 | ARSB | c.1479C>G (p.His493Gln) n.444C>G | |
| 5 | g.78780520G= | CA1557615533 | ARSB | c.1479C= (p.His493=) n.444C= | |
| 5 | g.78780520G>T | CA360339020 | ARSB | c.1479C>A (p.His493Gln) n.444C>A | |
| 5 | g.78780521T>A | CA360339021 | ARSB | c.1478A>T (p.His493Leu) n.443A>T | |
| 5 | g.78780521T>C | CA360339022 | ARSB | c.1478A>G (p.His493Arg) n.443A>G | |
| 5 | g.78780521T>G | CA360339023 | ARSB | c.1478A>C (p.His493Pro) n.443A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780521T= | CA1557615535 | ARSB | c.1478A= (p.His493=) n.443A= | |
| 5 | g.78780522G>A | CA360339026 | ARSB | c.1477C>T (p.His493Tyr) n.442C>T | dbSNP |
| 5 | g.78780522G>C | CA360339025 | ARSB | c.1477C>G (p.His493Asp) n.442C>G | |
| 5 | g.78780522G= | CA1557615541 | ARSB | c.1477C= (p.His493=) n.442C= | |
| 5 | g.78780522G>T | CA360339024 | ARSB | c.1477C>A (p.His493Asn) n.442C>A | gnomAD v4 |
| 5 | g.78780523A>C | CA445400428 | ARSB | c.1476T>G (p.Pro492=) n.441T>G | |
| 5 | g.78780523A>G | CA445400430 | ARSB | c.1476T>C (p.Pro492=) n.441T>C | |
| 5 | g.78780523A>T | CA445400431 | ARSB | c.1476T>A (p.Pro492=) n.441T>A | |
| 5 | g.78780523_78780524delinsAG | CA1557615543 | ARSB | c.1475_1476delinsCT (p.Pro492=) n.440_441delinsCT | |
| 5 | g.78780524G>A | CA360339027 | ARSB | c.1475C>T (p.Pro492Leu) n.440C>T | |
| 5 | g.78780524G>C | CA360339028 | ARSB | c.1475C>G (p.Pro492Arg) n.440C>G | |
| 5 | g.78780524G>T | CA360339029 | ARSB | c.1475C>A (p.Pro492His) n.440C>A | |
| 5 | g.78780525del | CA658822424 | ARSB | c.1475del (p.Pro492LeufsTer?) n.440del | ClinVar dbSNP gnomAD v4 |
| 5 | g.78780525G>A | CA360339030 | ARSB | c.1474C>T (p.Pro492Ser) n.439C>T | |
| 5 | g.78780525G>C | CA360339031 | ARSB | c.1474C>G (p.Pro492Ala) n.439C>G | gnomAD v4 |
| 5 | g.78780525G>T | CA360339032 | ARSB | c.1474C>A (p.Pro492Thr) n.439C>A | |
| 5 | g.78780526A>C | CA360339033 | ARSB | c.1473T>G (p.Tyr491Ter) n.438T>G | |
| 5 | g.78780526A>G | CA445400441 | ARSB | c.1473T>C (p.Tyr491=) n.438T>C | gnomAD v4 |
| 5 | g.78780526A>T | CA360339034 | ARSB | c.1473T>A (p.Tyr491Ter) n.438T>A | gnomAD v4 |
| 5 | g.78780527T>A | CA360339035 | ARSB | c.1472A>T (p.Tyr491Phe) n.437A>T | |
| 5 | g.78780527T>C | CA360339036 | ARSB | c.1472A>G (p.Tyr491Cys) n.437A>G | |
| 5 | g.78780527T>G | CA360339037 | ARSB | c.1472A>C (p.Tyr491Ser) n.437A>C | |
| 5 | g.78780528A>C | CA360339038 | ARSB | c.1471T>G (p.Tyr491Asp) n.436T>G | |
| 5 | g.78780528A>G | CA360339039 | ARSB | c.1471T>C (p.Tyr491His) n.436T>C | COSMIC |
| 5 | g.78780528A>T | CA360339040 | ARSB | c.1471T>A (p.Tyr491Asn) n.436T>A | |
| 5 | g.78780529T>A | CA360339041 | ARSB | c.1470A>T (p.Glu490Asp) n.435A>T | |
| 5 | g.78780529T>C | CA445400444 | ARSB | c.1470A>G (p.Glu490=) n.435A>G | |
| 5 | g.78780529T>G | CA360339042 | ARSB | c.1470A>C (p.Glu490Asp) n.435A>C | |
| 5 | g.78780530T>A | CA360339043 | ARSB | c.1469A>T (p.Glu490Val) n.434A>T | |
| 5 | g.78780530T>C | CA360339044 | ARSB | c.1469A>G (p.Glu490Gly) n.434A>G | |
| 5 | g.78780530T>G | CA360339045 | ARSB | c.1469A>C (p.Glu490Ala) n.434A>C | |
| 5 | g.78780531C>A | CA360339046 | ARSB | c.1468G>T (p.Glu490Ter) n.433G>T | |
| 5 | g.78780531C= | CA1557615552 | ARSB | c.1468G= (p.Glu490=) n.433G= | |
| 5 | g.78780531C>G | CA360339047 | ARSB | c.1468G>C (p.Glu490Gln) n.433G>C | |
| 5 | g.78780531C>T | CA360339048 | ARSB | c.1468G>A (p.Glu490Lys) n.433G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780532T>A | CA360339049 | ARSB | c.1467A>T (p.Arg489Ser) n.432A>T | |
| 5 | g.78780532T>C | CA445400449 | ARSB | c.1467A>G (p.Arg489=) n.432A>G | |
| 5 | g.78780532T>G | CA360339050 | ARSB | c.1467A>C (p.Arg489Ser) n.432A>C | |
| 5 | g.78780533C>A | CA360339051 | ARSB | c.1466G>T (p.Arg489Ile) n.431G>T | |
| 5 | g.78780533C= | CA1557615562 | ARSB | c.1466G= (p.Arg489=) n.431G= | |
| 5 | g.78780533C>G | CA360339052 | ARSB | c.1466G>C (p.Arg489Thr) n.431G>C | |
| 5 | g.78780533C>T | CA360339053 | ARSB | c.1466G>A (p.Arg489Lys) n.431G>A | ClinVar dbSNP COSMIC |
| 5 | g.78780534T>A | CA360339054 | ARSB | c.1465A>T (p.Arg489Ter) n.430A>T | |
| 5 | g.78780534T>C | CA121679134 | ARSB | c.1465A>G (p.Arg489Gly) n.430A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780534T>G | CA445400453 | ARSB | c.1465A>C (p.Arg489=) n.430A>C | |
| 5 | g.78780534T= | CA1557615572 | ARSB | c.1465A= (p.Arg489=) n.430A= | |
| 5 | g.78780535G>A | CA445400454 | ARSB | c.1464C>T (p.Ser488=) n.429C>T | |
| 5 | g.78780535G>C | CA445400455 | ARSB | c.1464C>G (p.Ser488=) n.429C>G | |
| 5 | g.78780535G>T | CA445400457 | ARSB | c.1464C>A (p.Ser488=) n.429C>A | |
| 5 | g.78780536G>A | CA121679135 | ARSB | c.1463C>T (p.Ser488Phe) n.428C>T | dbSNP gnomAD v4 |
| 5 | g.78780536G>C | CA360339056 | ARSB | c.1463C>G (p.Ser488Cys) n.428C>G | |
| 5 | g.78780536G= | CA1557615577 | ARSB | c.1463C= (p.Ser488=) n.428C= | |
| 5 | g.78780536G>T | CA360339055 | ARSB | c.1463C>A (p.Ser488Tyr) n.428C>A | |
| 5 | g.78780537A= | CA1557615585 | ARSB | c.1462T= (p.Ser488=) n.427T= | |
| 5 | g.78780537A>C | CA360339057 | ARSB | c.1462T>G (p.Ser488Ala) n.427T>G | |
| 5 | g.78780537A>G | CA360339059 | ARSB | c.1462T>C (p.Ser488Pro) n.427T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780537A>T | CA360339058 | ARSB | c.1462T>A (p.Ser488Thr) n.427T>A | |
| 5 | g.78780538C>A | CA445400464 | ARSB | c.1461G>T (p.Leu487=) n.426G>T | |
| 5 | g.78780538C>G | CA445400465 | ARSB | c.1461G>C (p.Leu487=) n.426G>C | |
| 5 | g.78780538C>T | CA445400467 | ARSB | c.1461G>A (p.Leu487=) n.426G>A | |
| 5 | g.78780539A>C | CA360339060 | ARSB | c.1460T>G (p.Leu487Arg) n.425T>G | |
| 5 | g.78780539A>G | CA360339062 | ARSB | c.1460T>C (p.Leu487Pro) n.425T>C | gnomAD v4 |
| 5 | g.78780539A>T | CA360339061 | ARSB | c.1460T>A (p.Leu487Gln) n.425T>A | |
| 5 | g.78780540G>A | CA445400471 | ARSB | c.1459C>T (p.Leu487=) n.424C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780540G>C | CA360339064 | ARSB | c.1459C>G (p.Leu487Val) n.424C>G | |
| 5 | g.78780540G= | CA1557615589 | ARSB | c.1459C= (p.Leu487=) n.424C= | |
| 5 | g.78780540G>T | CA360339065 | ARSB | c.1459C>A (p.Leu487Met) n.424C>A | |
| 5 | g.78780541G>A | CA3317980 | ARSB | c.1458C>T (p.Asp486=) n.423C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780541G>C | CA360339066 | ARSB | c.1458C>G (p.Asp486Glu) n.423C>G | |
| 5 | g.78780541G= | CA1557615591 | ARSB | c.1458C= (p.Asp486=) n.423C= | |
| 5 | g.78780541G>T | CA360339067 | ARSB | c.1458C>A (p.Asp486Glu) n.423C>A | ClinVar gnomAD v4 |
| 5 | g.78780542T>A | CA360339068 | ARSB | c.1457A>T (p.Asp486Val) n.422A>T | ClinVar dbSNP |
| 5 | g.78780542T>C | CA360339069 | ARSB | c.1457A>G (p.Asp486Gly) n.422A>G | |
| 5 | g.78780542T>G | CA360339071 | ARSB | c.1457A>C (p.Asp486Ala) n.422A>C | |
| 5 | g.78780542T= | CA1557615596 | ARSB | c.1457A= (p.Asp486=) n.422A= | |
| 5 | g.78780543C>A | CA360339074 | ARSB | c.1456G>T (p.Asp486Tyr) n.421G>T | |
| 5 | g.78780543C= | CA1557615600 | ARSB | c.1456G= (p.Asp486=) n.421G= | |
| 5 | g.78780543C>G | CA360339072 | ARSB | c.1456G>C (p.Asp486His) n.421G>C | |
| 5 | g.78780543C>T | CA360339073 | ARSB | c.1456G>A (p.Asp486Asn) n.421G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780544A>C | CA360339075 | ARSB | c.1455T>G (p.His485Gln) n.420T>G | |
| 5 | g.78780544A>G | CA445400479 | ARSB | c.1455T>C (p.His485=) n.420T>C | gnomAD v4 |
| 5 | g.78780544A>T | CA360339076 | ARSB | c.1455T>A (p.His485Gln) n.420T>A | |
| 5 | g.78780545T>A | CA360339077 | ARSB | c.1454A>T (p.His485Leu) n.419A>T | |
| 5 | g.78780545T>C | CA360339078 | ARSB | c.1454A>G (p.His485Arg) n.419A>G | |
| 5 | g.78780545T>G | CA360339079 | ARSB | c.1454A>C (p.His485Pro) n.419A>C | |
| 5 | g.78780546G>A | CA360339081 | ARSB | c.1453C>T (p.His485Tyr) n.418C>T | |
| 5 | g.78780546G>C | CA10620857 | ARSB | c.1453C>G (p.His485Asp) n.418C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780546G= | CA1557615605 | ARSB | c.1453C= (p.His485=) n.418C= | |
| 5 | g.78780546G>T | CA360339080 | ARSB | c.1453C>A (p.His485Asn) n.418C>A | |
| 5 | g.78780547T>A | CA360339082 | ARSB | c.1452A>T (p.Arg484Ser) n.417A>T | gnomAD v4 |
| 5 | g.78780547T>C | CA445400487 | ARSB | c.1452A>G (p.Arg484=) n.417A>G | |
| 5 | g.78780547T>G | CA360339083 | ARSB | c.1452A>C (p.Arg484Ser) n.417A>C | |
| 5 | g.78780548C>A | CA360339084 | ARSB | c.1451G>T (p.Arg484Ile) n.416G>T | |
| 5 | g.78780548C>G | CA360339085 | ARSB | c.1451G>C (p.Arg484Thr) n.416G>C | ClinVar gnomAD v4 |
| 5 | g.78780548C>T | CA360339086 | ARSB | c.1451G>A (p.Arg484Lys) n.416G>A | |
| 5 | g.78780549T>A | CA360339087 | ARSB | c.1450A>T (p.Arg484Ter) n.415A>T | |
| 5 | g.78780549T>C | CA199152 | ARSB | c.1450A>G (p.Arg484Gly) n.415A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780549T>G | CA445400496 | ARSB | c.1450A>C (p.Arg484=) n.415A>C | |
| 5 | g.78780549T= | CA1557615614 | ARSB | c.1450A= (p.Arg484=) n.415A= | |
| 5 | g.78780550T>A | CA16618212 | ARSB | c.1449A>T (p.Glu483Asp) n.414A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780550T>C | CA445400500 | ARSB | c.1449A>G (p.Glu483=) n.414A>G | |
| 5 | g.78780550T>G | CA360339088 | ARSB | c.1449A>C (p.Glu483Asp) n.414A>C | |
| 5 | g.78780550T= | CA1557615623 | ARSB | c.1449A= (p.Glu483=) n.414A= | |
| 5 | g.78780551T>A | CA360339089 | ARSB | c.1448A>T (p.Glu483Val) n.413A>T | |
| 5 | g.78780551T>C | CA360339090 | ARSB | c.1448A>G (p.Glu483Gly) n.413A>G | |
| 5 | g.78780551T>G | CA360339091 | ARSB | c.1448A>C (p.Glu483Ala) n.413A>C | |
| 5 | g.78780552del | CA2674366589 | ARSB | c.1447del (p.Glu483LysfsTer?) n.412del | gnomAD v4 |
| 5 | g.78780552C>A | CA360339092 | ARSB | c.1447G>T (p.Glu483Ter) n.412G>T | |
| 5 | g.78780552C>G | CA360339094 | ARSB | c.1447G>C (p.Glu483Gln) n.412G>C | |
| 5 | g.78780552C>T | CA360339093 | ARSB | c.1447G>A (p.Glu483Lys) n.412G>A | |
| 5 | g.78780553T>A | CA360339095 | ARSB | c.1446A>T (p.Glu482Asp) n.411A>T | |
| 5 | g.78780553T>C | CA3317981 | ARSB | c.1446A>G (p.Glu482=) n.411A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780553T>G | CA360339096 | ARSB | c.1446A>C (p.Glu482Asp) n.411A>C | |
| 5 | g.78780553T= | CA1557615631 | ARSB | c.1446A= (p.Glu482=) n.411A= | |
| 5 | g.78780554T>A | CA360339097 | ARSB | c.1445A>T (p.Glu482Val) n.410A>T | |
| 5 | g.78780554T>C | CA360339098 | ARSB | c.1445A>G (p.Glu482Gly) n.410A>G | |
| 5 | g.78780554T>G | CA360339099 | ARSB | c.1445A>C (p.Glu482Ala) n.410A>C | |
| 5 | g.78780555C>A | CA360339100 | ARSB | c.1444G>T (p.Glu482Ter) n.409G>T | |
| 5 | g.78780555C>G | CA360339101 | ARSB | c.1444G>C (p.Glu482Gln) n.409G>C | |
| 5 | g.78780555C>T | CA360339102 | ARSB | c.1444G>A (p.Glu482Lys) n.409G>A | |
| 5 | g.78780556A= | CA1557615635 | ARSB | c.1443T= (p.Pro481=) n.408T= | |
| 5 | g.78780556A>C | CA445400507 | ARSB | c.1443T>G (p.Pro481=) n.408T>G | dbSNP |
| 5 | g.78780556A>G | CA445400509 | ARSB | c.1443T>C (p.Pro481=) n.408T>C | gnomAD v4 |
| 5 | g.78780556A>T | CA445400510 | ARSB | c.1443T>A (p.Pro481=) n.408T>A | |
| 5 | g.78780557G>A | CA360339103 | ARSB | c.1442C>T (p.Pro481Leu) n.407C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78780557G>C | CA360339104 | ARSB | c.1442C>G (p.Pro481Arg) n.407C>G | |
| 5 | g.78780557G= | CA1557615642 | ARSB | c.1442C= (p.Pro481=) n.407C= | |
| 5 | g.78780557G>T | CA121679136 | ARSB | c.1442C>A (p.Pro481His) n.407C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780558G>A | CA360339107 | ARSB | c.1441C>T (p.Pro481Ser) n.406C>T | |
| 5 | g.78780558G>C | CA360339105 | ARSB | c.1441C>G (p.Pro481Ala) n.406C>G | |
| 5 | g.78780558G>T | CA360339106 | ARSB | c.1441C>A (p.Pro481Thr) n.406C>A |