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.78964438A>C | CA360193039 | ARSB | c.668T>G (p.Ile223Arg) n.739T>G | |
| 5 | g.78964438A>G | CA360193041 | ARSB | c.668T>C (p.Ile223Thr) n.739T>C | |
| 5 | g.78964438A>T | CA360193038 | ARSB | c.668T>A (p.Ile223Lys) n.739T>A | |
| 5 | g.78964439T>A | CA360193043 | ARSB | c.667A>T (p.Ile223Leu) n.738A>T | |
| 5 | g.78964439T>C | CA3318213 | ARSB | c.667A>G (p.Ile223Val) n.738A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964439T>G | CA360193045 | ARSB | c.667A>C (p.Ile223Leu) n.738A>C | |
| 5 | g.78964439T= | CA1557701727 | ARSB | c.667A= (p.Ile223=) n.738A= | |
| 5 | g.78964440G>A | CA445101503 | ARSB | c.666C>T (p.Leu222=) n.737C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964440G>C | CA445101507 | ARSB | c.666C>G (p.Leu222=) n.737C>G | |
| 5 | g.78964440G= | CA1557701728 | ARSB | c.666C= (p.Leu222=) n.737C= | |
| 5 | g.78964440G>T | CA445101504 | ARSB | c.666C>A (p.Leu222=) n.737C>A | |
| 5 | g.78964441A>C | CA360193047 | ARSB | c.665T>G (p.Leu222Arg) n.736T>G | |
| 5 | g.78964441A>G | CA360193048 | ARSB | c.665T>C (p.Leu222Pro) n.736T>C | |
| 5 | g.78964441A>T | CA360193050 | ARSB | c.665T>A (p.Leu222His) n.736T>A | |
| 5 | g.78964442G>A | CA360193052 | ARSB | c.664C>T (p.Leu222Phe) n.735C>T | |
| 5 | g.78964442G>C | CA360193054 | ARSB | c.664C>G (p.Leu222Val) n.735C>G | |
| 5 | g.78964442G>T | CA360193055 | ARSB | c.664C>A (p.Leu222Ile) n.735C>A | |
| 5 | g.78964443G>A | CA3318214 | ARSB | c.663C>T (p.Ala221=) n.734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964443G>C | CA445101527 | ARSB | c.663C>G (p.Ala221=) n.734C>G | |
| 5 | g.78964443G= | CA1557701729 | ARSB | c.663C= (p.Ala221=) n.734C= | |
| 5 | g.78964443G>T | CA445101529 | ARSB | c.663C>A (p.Ala221=) n.734C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964444G>A | CA360193058 | ARSB | c.662C>T (p.Ala221Val) n.733C>T | |
| 5 | g.78964444G>C | CA360193059 | ARSB | c.662C>G (p.Ala221Gly) n.733C>G | |
| 5 | g.78964444G>T | CA360193061 | ARSB | c.662C>A (p.Ala221Asp) n.733C>A | dbSNP gnomAD v4 |
| 5 | g.78964445C>A | CA360193066 | ARSB | c.661G>T (p.Ala221Ser) n.732G>T | |
| 5 | g.78964445C>G | CA360193064 | ARSB | c.661G>C (p.Ala221Pro) n.732G>C | |
| 5 | g.78964445C>T | CA360193063 | ARSB | c.661G>A (p.Ala221Thr) n.732G>A | |
| 5 | g.78964445_78964447delinsCTA | CA1557701730 | ARSB | c.659_661delinsTAG (p.Ile220=) n.730_732delinsTAG | |
| 5 | g.78964446T>A | CA445101539 | ARSB | c.660A>T (p.Ile220=) n.731A>T | |
| 5 | g.78964446T>C | CA360193068 | ARSB | c.660A>G (p.Ile220Met) n.731A>G | |
| 5 | g.78964446T>G | CA445101543 | ARSB | c.660A>C (p.Ile220=) n.731A>C | |
| 5 | g.78964448_78964449del | CA658822930 | ARSB | c.659_660del (p.Ile220SerfsTer5) n.730_731del | ClinVar dbSNP |
| 5 | g.78964447_78964460del | CA2674368564 | ARSB | c.647_660del (p.Thr216SerfsTer5) n.718_731del | gnomAD v4 |
| 5 | g.78964447del | CA2674368565 | ARSB | c.659del (p.Ile220LysfsTer4) n.730del | ClinVar gnomAD v4 |
| 5 | g.78964447A= | CA1557701731 | ARSB | c.659T= (p.Ile220=) n.730T= | |
| 5 | g.78964447A>C | CA360193070 | ARSB | c.659T>G (p.Ile220Arg) n.730T>G | |
| 5 | g.78964447A>G | CA121104043 | ARSB | c.659T>C (p.Ile220Thr) n.730T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964447A>T | CA360193072 | ARSB | c.659T>A (p.Ile220Lys) n.730T>A | |
| 5 | g.78964448T>A | CA360193074 | ARSB | c.658A>T (p.Ile220Leu) n.729A>T | |
| 5 | g.78964448T>C | CA3318215 | ARSB | c.658A>G (p.Ile220Val) n.729A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964448T>G | CA360193076 | ARSB | c.658A>C (p.Ile220Leu) n.729A>C | |
| 5 | g.78964448T= | CA1557701732 | ARSB | c.658A= (p.Ile220=) n.729A= | |
| 5 | g.78964449A= | CA1557701733 | ARSB | c.657T= (p.Ala219=) n.728T= | |
| 5 | g.78964449A>C | CA445101582 | ARSB | c.657T>G (p.Ala219=) n.728T>G | |
| 5 | g.78964449A>G | CA445101585 | ARSB | c.657T>C (p.Ala219=) n.728T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964449A>T | CA445101588 | ARSB | c.657T>A (p.Ala219=) n.728T>A | |
| 5 | g.78964450G>A | CA3318216 | ARSB | c.656C>T (p.Ala219Val) n.727C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964450G>C | CA360193078 | ARSB | c.656C>G (p.Ala219Gly) n.727C>G | |
| 5 | g.78964450G= | CA1557701734 | ARSB | c.656C= (p.Ala219=) n.727C= | |
| 5 | g.78964450G>T | CA360193080 | ARSB | c.656C>A (p.Ala219Asp) n.727C>A | COSMIC COSMIC |
| 5 | g.78964451C>A | CA360193081 | ARSB | c.655G>T (p.Ala219Ser) n.726G>T | |
| 5 | g.78964451C= | CA1557701735 | ARSB | c.655G= (p.Ala219=) n.726G= | |
| 5 | g.78964451C>G | CA360193083 | ARSB | c.655G>C (p.Ala219Pro) n.726G>C | |
| 5 | g.78964451C>T | CA360193085 | ARSB | c.655G>A (p.Ala219Thr) n.726G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964452C>A | CA360193088 | ARSB | c.654G>T (p.Arg218Ser) n.725G>T | gnomAD v4 |
| 5 | g.78964452C>G | CA360193086 | ARSB | c.654G>C (p.Arg218Ser) n.725G>C | gnomAD v4 |
| 5 | g.78964452C>T | CA445101598 | ARSB | c.654G>A (p.Arg218=) n.725G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964453C>A | CA360193089 | ARSB | c.653G>T (p.Arg218Met) n.724G>T | |
| 5 | g.78964453C>G | CA360193091 | ARSB | c.653G>C (p.Arg218Thr) n.724G>C | |
| 5 | g.78964453C>T | CA360193093 | ARSB | c.653G>A (p.Arg218Lys) n.724G>A | |
| 5 | g.78964454T>A | CA360193095 | ARSB | c.652A>T (p.Arg218Trp) n.723A>T | |
| 5 | g.78964454T>C | CA360193096 | ARSB | c.652A>G (p.Arg218Gly) n.723A>G | |
| 5 | g.78964454T>G | CA445101618 | ARSB | c.652A>C (p.Arg218=) n.723A>C | |
| 5 | g.78964455T>A | CA360193098 | ARSB | c.651A>T (p.Lys217Asn) n.722A>T | |
| 5 | g.78964455T>C | CA445101631 | ARSB | c.651A>G (p.Lys217=) n.722A>G | |
| 5 | g.78964455T>G | CA360193100 | ARSB | c.651A>C (p.Lys217Asn) n.722A>C | |
| 5 | g.78964456T>A | CA360193104 | ARSB | c.650A>T (p.Lys217Ile) n.721A>T | |
| 5 | g.78964456T>C | CA3318217 | ARSB | c.650A>G (p.Lys217Arg) n.721A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964456T>G | CA360193102 | ARSB | c.650A>C (p.Lys217Thr) n.721A>C | |
| 5 | g.78964456T= | CA1557701736 | ARSB | c.650A= (p.Lys217=) n.721A= | |
| 5 | g.78964457T>A | CA360193120 | ARSB | c.649A>T (p.Lys217Ter) n.720A>T | |
| 5 | g.78964457T>C | CA360193121 | ARSB | c.649A>G (p.Lys217Glu) n.720A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964457T>G | CA360193123 | ARSB | c.649A>C (p.Lys217Gln) n.720A>C | |
| 5 | g.78964457T= | CA1557701737 | ARSB | c.649A= (p.Lys217=) n.720A= | |
| 5 | g.78964458G>A | CA445101640 | ARSB | c.648C>T (p.Thr216=) n.719C>T | |
| 5 | g.78964458G>C | CA445101648 | ARSB | c.648C>G (p.Thr216=) n.719C>G | |
| 5 | g.78964458G>T | CA445101650 | ARSB | c.648C>A (p.Thr216=) n.719C>A | |
| 5 | g.78964459G>A | CA3318218 | ARSB | c.647C>T (p.Thr216Ile) n.718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964459G>C | CA360193126 | ARSB | c.647C>G (p.Thr216Ser) n.718C>G | |
| 5 | g.78964459G= | CA1557701738 | ARSB | c.647C= (p.Thr216=) n.718C= | |
| 5 | g.78964459G>T | CA360193127 | ARSB | c.647C>A (p.Thr216Asn) n.718C>A | |
| 5 | g.78964460T>A | CA360193128 | ARSB | c.646A>T (p.Thr216Ser) n.717A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964460T>C | CA360193132 | ARSB | c.646A>G (p.Thr216Ala) n.717A>G | |
| 5 | g.78964460T>G | CA360193130 | ARSB | c.646A>C (p.Thr216Pro) n.717A>C | |
| 5 | g.78964460T= | CA1557701739 | ARSB | c.646A= (p.Thr216=) n.717A= | |
| 5 | g.78964461G>A | CA445101667 | ARSB | c.645C>T (p.Phe215=) n.716C>T | ClinVar |
| 5 | g.78964461G>C | CA360193134 | ARSB | c.645C>G (p.Phe215Leu) n.716C>G | |
| 5 | g.78964461G>T | CA360193135 | ARSB | c.645C>A (p.Phe215Leu) n.716C>A | |
| 5 | g.78964462A>C | CA360193137 | ARSB | c.644T>G (p.Phe215Cys) n.715T>G | |
| 5 | g.78964462A>G | CA360193139 | ARSB | c.644T>C (p.Phe215Ser) n.715T>C | |
| 5 | g.78964462A>T | CA360193141 | ARSB | c.644T>A (p.Phe215Tyr) n.715T>A | |
| 5 | g.78964463A>C | CA360193142 | ARSB | c.643T>G (p.Phe215Val) n.714T>G | |
| 5 | g.78964463A>G | CA360193143 | ARSB | c.643T>C (p.Phe215Leu) n.714T>C | |
| 5 | g.78964463A>T | CA360193145 | ARSB | c.643T>A (p.Phe215Ile) n.714T>A | |
| 5 | g.78964464T>A | CA445101682 | ARSB | c.642A>T (p.Ile214=) n.713A>T | |
| 5 | g.78964464T>C | CA360193147 | ARSB | c.642A>G (p.Ile214Met) n.713A>G | |
| 5 | g.78964464T>G | CA445101676 | ARSB | c.642A>C (p.Ile214=) n.713A>C | |
| 5 | g.78964465A>C | CA360193148 | ARSB | c.641T>G (p.Ile214Arg) n.712T>G | |
| 5 | g.78964465A>G | CA360193150 | ARSB | c.641T>C (p.Ile214Thr) n.712T>C | |
| 5 | g.78964465A>T | CA360193151 | ARSB | c.641T>A (p.Ile214Lys) n.712T>A | |
| 5 | g.78964466T>A | CA360193154 | ARSB | c.640A>T (p.Ile214Leu) n.711A>T | gnomAD v4 |
| 5 | g.78964466T>C | CA360193157 | ARSB | c.640A>G (p.Ile214Val) n.711A>G | gnomAD v4 |
| 5 | g.78964466T>G | CA360193155 | ARSB | c.640A>C (p.Ile214Leu) n.711A>C | |
| 5 | g.78964467G>A | CA445101688 | ARSB | c.639C>T (p.Asn213=) n.710C>T | |
| 5 | g.78964467G>C | CA360193159 | ARSB | c.639C>G (p.Asn213Lys) n.710C>G | |
| 5 | g.78964467G>T | CA360193160 | ARSB | c.639C>A (p.Asn213Lys) n.710C>A | |
| 5 | g.78964468T>A | CA360193161 | ARSB | c.638A>T (p.Asn213Ile) n.709A>T | |
| 5 | g.78964468T>C | CA360193162 | ARSB | c.638A>G (p.Asn213Ser) n.709A>G | |
| 5 | g.78964468T>G | CA360193164 | ARSB | c.638A>C (p.Asn213Thr) n.709A>C | |
| 5 | g.78964469T>A | CA360193169 | ARSB | c.637A>T (p.Asn213Tyr) n.708A>T | |
| 5 | g.78964469T>C | CA360193168 | ARSB | c.637A>G (p.Asn213Asp) n.708A>G | |
| 5 | g.78964469T>G | CA360193166 | ARSB | c.637A>C (p.Asn213His) n.708A>C | |
| 5 | g.78964469_78964476delinsTTGTTGAA | CA1557701740 | ARSB | c.630_637delinsTTCAACAA (p.Tyr210=) n.701_708delinsTTCAACAA | |
| 5 | g.78964470T>A | CA445101698 | ARSB | c.636A>T (p.Thr212=) n.707A>T | |
| 5 | g.78964470T>C | CA445101701 | ARSB | c.636A>G (p.Thr212=) n.707A>G | |
| 5 | g.78964470T>G | CA445101703 | ARSB | c.636A>C (p.Thr212=) n.707A>C | |
| 5 | g.78964471_78964477del | CA658822931 | ARSB | c.630_636del (p.Tyr210Ter) n.701_707del | ClinVar dbSNP |
| 5 | g.78964471G>A | CA360193171 | ARSB | c.635C>T (p.Thr212Ile) n.706C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964471G>C | CA360193173 | ARSB | c.635C>G (p.Thr212Arg) n.706C>G | gnomAD v4 |
| 5 | g.78964471G= | CA1557701741 | ARSB | c.635C= (p.Thr212=) n.706C= | |
| 5 | g.78964471G>T | CA360193175 | ARSB | c.635C>A (p.Thr212Lys) n.706C>A | |
| 5 | g.78964472T>A | CA360193176 | ARSB | c.634A>T (p.Thr212Ser) n.705A>T | |
| 5 | g.78964472T>C | CA360193178 | ARSB | c.634A>G (p.Thr212Ala) n.705A>G | |
| 5 | g.78964472T>G | CA360193180 | ARSB | c.634A>C (p.Thr212Pro) n.705A>C | |
| 5 | g.78964473T>A | CA445101713 | ARSB | c.633A>T (p.Ser211=) n.704A>T | |
| 5 | g.78964473T>C | CA445101717 | ARSB | c.633A>G (p.Ser211=) n.704A>G | |
| 5 | g.78964473T>G | CA445101723 | ARSB | c.633A>C (p.Ser211=) n.704A>C | |
| 5 | g.78964474G>A | CA360193182 | ARSB | c.632C>T (p.Ser211Leu) n.703C>T | |
| 5 | g.78964474G>C | CA360193185 | ARSB | c.632C>G (p.Ser211Ter) n.703C>G | |
| 5 | g.78964474G>T | CA360193183 | ARSB | c.632C>A (p.Ser211Ter) n.703C>A | |
| 5 | g.78964475A>C | CA360193187 | ARSB | c.631T>G (p.Ser211Ala) n.702T>G | |
| 5 | g.78964475A>G | CA360193188 | ARSB | c.631T>C (p.Ser211Pro) n.702T>C | |
| 5 | g.78964475A>T | CA360193190 | ARSB | c.631T>A (p.Ser211Thr) n.702T>A | |
| 5 | g.78964476A>C | CA360193191 | ARSB | c.630T>G (p.Tyr210Ter) n.701T>G | |
| 5 | g.78964476A>G | CA445101740 | ARSB | c.630T>C (p.Tyr210=) n.701T>C | |
| 5 | g.78964476A>T | CA360193193 | ARSB | c.630T>A (p.Tyr210Ter) n.701T>A | |
| 5 | g.78964477T>A | CA360193195 | ARSB | c.629A>T (p.Tyr210Phe) n.700A>T | |
| 5 | g.78964477T>C | CA114609 | ARSB | c.629A>G (p.Tyr210Cys) n.700A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964477T>G | CA360193197 | ARSB | c.629A>C (p.Tyr210Ser) n.700A>C | |
| 5 | g.78964477T= | CA1557701742 | ARSB | c.629A= (p.Tyr210=) n.700A= | |
| 5 | g.78964478A= | CA1557701743 | ARSB | c.628T= (p.Tyr210=) n.699T= | |
| 5 | g.78964478A>C | CA360193198 | ARSB | c.628T>G (p.Tyr210Asp) n.699T>G | |
| 5 | g.78964478A>G | CA3318219 | ARSB | c.628T>C (p.Tyr210His) n.699T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964478A>T | CA360193199 | ARSB | c.628T>A (p.Tyr210Asn) n.699T>A | |
| 5 | g.78964479C>A | CA360193200 | ARSB | c.627G>T (p.Met209Ile) n.698G>T | |
| 5 | g.78964479C>G | CA360193202 | ARSB | c.627G>C (p.Met209Ile) n.698G>C | |
| 5 | g.78964479C>T | CA360193201 | ARSB | c.627G>A (p.Met209Ile) n.698G>A | gnomAD v4 |
| 5 | g.78964480A= | CA1557701744 | ARSB | c.626T= (p.Met209=) n.697T= | |
| 5 | g.78964480A>C | CA360193203 | ARSB | c.626T>G (p.Met209Arg) n.697T>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964480A>G | CA360193205 | ARSB | c.626T>C (p.Met209Thr) n.697T>C | dbSNP |
| 5 | g.78964480A>T | CA360193204 | ARSB | c.626T>A (p.Met209Lys) n.697T>A | |
| 5 | g.78964481T>A | CA360193206 | ARSB | c.625A>T (p.Met209Leu) n.696A>T | ClinVar |
| 5 | g.78964481T>C | CA360193207 | ARSB | c.625A>G (p.Met209Val) n.696A>G | dbSNP gnomAD v4 |
| 5 | g.78964481T>G | CA360193208 | ARSB | c.625A>C (p.Met209Leu) n.696A>C | |
| 5 | g.78964481T= | CA1557701745 | ARSB | c.625A= (p.Met209=) n.696A= | |
| 5 | g.78964482A= | CA1557701746 | ARSB | c.624T= (p.Asn208=) n.695T= | |
| 5 | g.78964482A>C | CA360193209 | ARSB | c.624T>G (p.Asn208Lys) n.695T>G | |
| 5 | g.78964482A>G | CA445101783 | ARSB | c.624T>C (p.Asn208=) n.695T>C | |
| 5 | g.78964482A>T | CA360193210 | ARSB | c.624T>A (p.Asn208Lys) n.695T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964483T>A | CA360193211 | ARSB | c.623A>T (p.Asn208Ile) n.694A>T | |
| 5 | g.78964483T>C | CA360193212 | ARSB | c.623A>G (p.Asn208Ser) n.694A>G | |
| 5 | g.78964483T>G | CA360193213 | ARSB | c.623A>C (p.Asn208Thr) n.694A>C | |
| 5 | g.78964484T>A | CA360193214 | ARSB | c.622A>T (p.Asn208Tyr) n.693A>T | |
| 5 | g.78964484T>C | CA360193215 | ARSB | c.622A>G (p.Asn208Asp) n.693A>G | |
| 5 | g.78964484T>G | CA360193216 | ARSB | c.622A>C (p.Asn208His) n.693A>C | |
| 5 | g.78964485T>A | CA360193217 | ARSB | c.621A>T (p.Lys207Asn) n.692A>T | |
| 5 | g.78964485T>C | CA445101814 | ARSB | c.621A>G (p.Lys207=) n.692A>G | |
| 5 | g.78964485T>G | CA360193218 | ARSB | c.621A>C (p.Lys207Asn) n.692A>C | |
| 5 | g.78964486T>A | CA360193219 | ARSB | c.620A>T (p.Lys207Ile) n.691A>T | |
| 5 | g.78964486T>C | CA360193221 | ARSB | c.620A>G (p.Lys207Arg) n.691A>G | |
| 5 | g.78964486T>G | CA360193220 | ARSB | c.620A>C (p.Lys207Thr) n.691A>C | |
| 5 | g.78964487T>A | CA360193222 | ARSB | c.619A>T (p.Lys207Ter) n.690A>T | |
| 5 | g.78964487T>C | CA360193223 | ARSB | c.619A>G (p.Lys207Glu) n.690A>G | |
| 5 | g.78964487T>G | CA360193224 | ARSB | c.619A>C (p.Lys207Gln) n.690A>C | |
| 5 | g.78964488A>C | CA360193225 | ARSB | c.618T>G (p.Tyr206Ter) n.689T>G | |
| 5 | g.78964488A>G | CA445101820 | ARSB | c.618T>C (p.Tyr206=) n.689T>C | |
| 5 | g.78964488A>T | CA360193226 | ARSB | c.618T>A (p.Tyr206Ter) n.689T>A | |
| 5 | g.78964489T>A | CA360193227 | ARSB | c.617A>T (p.Tyr206Phe) n.688A>T | |
| 5 | g.78964489T>C | CA3318220 | ARSB | c.617A>G (p.Tyr206Cys) n.688A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964489T>G | CA360193228 | ARSB | c.617A>C (p.Tyr206Ser) n.688A>C | |
| 5 | g.78964489T= | CA1557701747 | ARSB | c.617A= (p.Tyr206=) n.688A= | |
| 5 | g.78964490A>C | CA360193229 | ARSB | c.616T>G (p.Tyr206Asp) n.687T>G | |
| 5 | g.78964490A>G | CA360193230 | ARSB | c.616T>C (p.Tyr206His) n.687T>C | gnomAD v4 |
| 5 | g.78964490A>T | CA360193231 | ARSB | c.616T>A (p.Tyr206Asn) n.687T>A | |
| 5 | g.78964491T>A | CA3318221 | ARSB | c.615A>T (p.Gly205=) n.686A>T | dbSNP ExAC gnomAD v2 |
| 5 | g.78964491T>C | CA3318222 | ARSB | c.615A>G (p.Gly205=) n.686A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964491T>G | CA445101839 | ARSB | c.615A>C (p.Gly205=) n.686A>C | |
| 5 | g.78964491T= | CA1557701748 | ARSB | c.615A= (p.Gly205=) n.686A= | |
| 5 | g.78964492C>A | CA360193232 | ARSB | c.614G>T (p.Gly205Val) n.685G>T | COSMIC COSMIC |
| 5 | g.78964492C>G | CA360193233 | ARSB | c.614G>C (p.Gly205Ala) n.685G>C | |
| 5 | g.78964492C>T | CA360193234 | ARSB | c.614G>A (p.Gly205Glu) n.685G>A | COSMIC COSMIC |
| 5 | g.78964493C>A | CA360193235 | ARSB | c.613G>T (p.Gly205Ter) n.684G>T | |
| 5 | g.78964493C>G | CA360193236 | ARSB | c.613G>C (p.Gly205Arg) n.684G>C | |
| 5 | g.78964493C>T | CA360193237 | ARSB | c.613G>A (p.Gly205Arg) n.684G>A | gnomAD v4 |
| 5 | g.78964494T>A | CA445101849 | ARSB | c.612A>T (p.Thr204=) n.683A>T | |
| 5 | g.78964494T>C | CA445101853 | ARSB | c.612A>G (p.Thr204=) n.683A>G | gnomAD v4 COSMIC COSMIC |
| 5 | g.78964494T>G | CA445101854 | ARSB | c.612A>C (p.Thr204=) n.683A>C | |
| 5 | g.78964495G>A | CA360193240 | ARSB | c.611C>T (p.Thr204Ile) n.682C>T | |
| 5 | g.78964495G>C | CA360193239 | ARSB | c.611C>G (p.Thr204Arg) n.682C>G | |
| 5 | g.78964495G>T | CA360193238 | ARSB | c.611C>A (p.Thr204Lys) n.682C>A | |
| 5 | g.78964496T>A | CA360193241 | ARSB | c.610A>T (p.Thr204Ser) n.681A>T | |
| 5 | g.78964496T>C | CA360193242 | ARSB | c.610A>G (p.Thr204Ala) n.681A>G | gnomAD v4 |
| 5 | g.78964496T>G | CA360193243 | ARSB | c.610A>C (p.Thr204Pro) n.681A>C | |
| 5 | g.78964497T>A | CA445101861 | ARSB | c.609A>T (p.Ala203=) n.680A>T | |
| 5 | g.78964497T>C | CA445101864 | ARSB | c.609A>G (p.Ala203=) n.680A>G | |
| 5 | g.78964497T>G | CA445101867 | ARSB | c.609A>C (p.Ala203=) n.680A>C | |
| 5 | g.78964498G>A | CA360193244 | ARSB | c.608C>T (p.Ala203Val) n.679C>T | |
| 5 | g.78964498G>C | CA360193245 | ARSB | c.608C>G (p.Ala203Gly) n.679C>G | |
| 5 | g.78964498G>T | CA360193246 | ARSB | c.608C>A (p.Ala203Glu) n.679C>A | |
| 5 | g.78964499C>A | CA360193247 | ARSB | c.607G>T (p.Ala203Ser) n.678G>T | |
| 5 | g.78964499C>G | CA360193249 | ARSB | c.607G>C (p.Ala203Pro) n.678G>C | |
| 5 | g.78964499C>T | CA360193248 | ARSB | c.607G>A (p.Ala203Thr) n.678G>A | |
| 5 | g.78964500A>C | CA445101881 | ARSB | c.606T>G (p.Val202=) n.677T>G | |
| 5 | g.78964500A>G | CA445101882 | ARSB | c.606T>C (p.Val202=) n.677T>C | |
| 5 | g.78964500A>T | CA445101883 | ARSB | c.606T>A (p.Val202=) n.677T>A | |
| 5 | g.78964501A>C | CA360193250 | ARSB | c.605T>G (p.Val202Gly) n.676T>G | |
| 5 | g.78964501A>G | CA360193251 | ARSB | c.605T>C (p.Val202Ala) n.676T>C | |
| 5 | g.78964501A>T | CA360193252 | ARSB | c.605T>A (p.Val202Asp) n.676T>A | |
| 5 | g.78964502C>A | CA360193253 | ARSB | c.604G>T (p.Val202Phe) n.675G>T | |
| 5 | g.78964502C>G | CA360193254 | ARSB | c.604G>C (p.Val202Leu) n.675G>C | |
| 5 | g.78964502C>T | CA360193255 | ARSB | c.604G>A (p.Val202Ile) n.675G>A | |
| 5 | g.78964503T>A | CA360193256 | ARSB | c.603A>T (p.Glu201Asp) n.674A>T | |
| 5 | g.78964503T>C | CA445101893 | ARSB | c.603A>G (p.Glu201=) n.674A>G | |
| 5 | g.78964503T>G | CA360193257 | ARSB | c.603A>C (p.Glu201Asp) n.674A>C | |
| 5 | g.78964504T>A | CA360193258 | ARSB | c.602A>T (p.Glu201Val) n.673A>T | |
| 5 | g.78964504T>C | CA360193259 | ARSB | c.602A>G (p.Glu201Gly) n.673A>G | dbSNP |
| 5 | g.78964504T>G | CA360193260 | ARSB | c.602A>C (p.Glu201Ala) n.673A>C | |
| 5 | g.78964504T= | CA1557701749 | ARSB | c.602A= (p.Glu201=) n.673A= | |
| 5 | g.78964505C>A | CA360193261 | ARSB | c.601G>T (p.Glu201Ter) n.672G>T | |
| 5 | g.78964505C>G | CA360193263 | ARSB | c.601G>C (p.Glu201Gln) n.672G>C | |
| 5 | g.78964505C>T | CA360193262 | ARSB | c.601G>A (p.Glu201Lys) n.672G>A | |
| 5 | g.78964506T>A | CA360193264 | ARSB | c.600A>T (p.Glu200Asp) n.671A>T | |
| 5 | g.78964506T>C | CA445101913 | ARSB | c.600A>G (p.Glu200=) n.671A>G | |
| 5 | g.78964506T>G | CA360193265 | ARSB | c.600A>C (p.Glu200Asp) n.671A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964506T= | CA1557701750 | ARSB | c.600A= (p.Glu200=) n.671A= | |
| 5 | g.78964507T>A | CA360193266 | ARSB | c.599A>T (p.Glu200Val) n.670A>T | |
| 5 | g.78964507T>C | CA360193267 | ARSB | c.599A>G (p.Glu200Gly) n.670A>G | |
| 5 | g.78964507T>G | CA360193268 | ARSB | c.599A>C (p.Glu200Ala) n.670A>C | |
| 5 | g.78964508C>A | CA360193269 | ARSB | c.598G>T (p.Glu200Ter) n.669G>T | |
| 5 | g.78964508C= | CA1557701751 | ARSB | c.598G= (p.Glu200=) n.669G= | |
| 5 | g.78964508C>G | CA360193270 | ARSB | c.598G>C (p.Glu200Gln) n.669G>C | |
| 5 | g.78964508C>T | CA3318223 | ARSB | c.598G>A (p.Glu200Lys) n.669G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964509G>A | CA3318224 | ARSB | c.597C>T (p.Gly199=) n.668C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964509G>C | CA445101944 | ARSB | c.597C>G (p.Gly199=) n.668C>G | |
| 5 | g.78964509G= | CA1557701752 | ARSB | c.597C= (p.Gly199=) n.668C= | |
| 5 | g.78964509G>T | CA445101941 | ARSB | c.597C>A (p.Gly199=) n.668C>A | |
| 5 | g.78964510C>A | CA360193271 | ARSB | c.596G>T (p.Gly199Val) n.667G>T | |
| 5 | g.78964510C>G | CA360193272 | ARSB | c.596G>C (p.Gly199Ala) n.667G>C | |
| 5 | g.78964510C>T | CA360193273 | ARSB | c.596G>A (p.Gly199Asp) n.667G>A | |
| 5 | g.78964511C>A | CA360193274 | ARSB | c.595G>T (p.Gly199Cys) n.666G>T | |
| 5 | g.78964511C>G | CA360193275 | ARSB | c.595G>C (p.Gly199Arg) n.666G>C | |
| 5 | g.78964511C>T | CA360193276 | ARSB | c.595G>A (p.Gly199Ser) n.666G>A | gnomAD v4 |
| 5 | g.78964512A>C | CA360193277 | ARSB | c.594T>G (p.Asp198Glu) n.665T>G | |
| 5 | g.78964512A>G | CA445101962 | ARSB | c.594T>C (p.Asp198=) n.665T>C | |
| 5 | g.78964512A>T | CA360193278 | ARSB | c.594T>A (p.Asp198Glu) n.665T>A | |
| 5 | g.78964513T>A | CA360193279 | ARSB | c.593A>T (p.Asp198Val) n.664A>T | |
| 5 | g.78964513T>C | CA360193280 | ARSB | c.593A>G (p.Asp198Gly) n.664A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964513T>G | CA360193281 | ARSB | c.593A>C (p.Asp198Ala) n.664A>C | |
| 5 | g.78964513T= | CA1557701753 | ARSB | c.593A= (p.Asp198=) n.664A= | |
| 5 | g.78964514C>A | CA360193282 | ARSB | c.592G>T (p.Asp198Tyr) n.663G>T | |
| 5 | g.78964514C>G | CA360193283 | ARSB | c.592G>C (p.Asp198His) n.663G>C | |
| 5 | g.78964514C>T | CA360193284 | ARSB | c.592G>A (p.Asp198Asn) n.663G>A | |
| 5 | g.78964515T>A | CA445101980 | ARSB | c.591A>T (p.Arg197=) n.662A>T | |
| 5 | g.78964515T>C | CA445101984 | ARSB | c.591A>G (p.Arg197=) n.662A>G | |
| 5 | g.78964515T>G | CA445101992 | ARSB | c.591A>C (p.Arg197=) n.662A>C | |
| 5 | g.78964516C>A | CA360193285 | ARSB | c.590G>T (p.Arg197Leu) n.661G>T | |
| 5 | g.78964516C= | CA1557701754 | ARSB | c.590G= (p.Arg197=) n.661G= | |
| 5 | g.78964516C>G | CA360193286 | ARSB | c.590G>C (p.Arg197Pro) n.661G>C | |
| 5 | g.78964516C>T | CA3318225 | ARSB | c.590G>A (p.Arg197Gln) n.661G>A | dbSNP ExAC gnomAD v4 |
| 5 | g.78964517G>A | CA360193287 | ARSB | c.589C>T (p.Arg197Ter) n.660C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964517G>C | CA3318226 | ARSB | c.589C>G (p.Arg197Gly) n.660C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964517G= | CA1557701755 | ARSB | c.589C= (p.Arg197=) n.660C= | |
| 5 | g.78964517G>T | CA445102015 | ARSB | c.589C>A (p.Arg197=) n.660C>A | |
| 5 | g.78964518A>C | CA360193289 | ARSB | c.588T>G (p.Phe196Leu) n.659T>G | |
| 5 | g.78964518A>G | CA445102026 | ARSB | c.588T>C (p.Phe196=) n.659T>C | |
| 5 | g.78964518A>T | CA360193288 | ARSB | c.588T>A (p.Phe196Leu) n.659T>A | |
| 5 | g.78964519A>C | CA360193290 | ARSB | c.587T>G (p.Phe196Cys) n.658T>G | |
| 5 | g.78964519A>G | CA360193291 | ARSB | c.587T>C (p.Phe196Ser) n.658T>C | |
| 5 | g.78964519A>T | CA360193292 | ARSB | c.587T>A (p.Phe196Tyr) n.658T>A | |
| 5 | g.78964520A>C | CA360193293 | ARSB | c.586T>G (p.Phe196Val) n.657T>G | |
| 5 | g.78964520A>G | CA360193294 | ARSB | c.586T>C (p.Phe196Leu) n.657T>C | |
| 5 | g.78964520A>T | CA360193295 | ARSB | c.586T>A (p.Phe196Ile) n.657T>A | |
| 5 | g.78964521A>C | CA360193297 | ARSB | c.585T>G (p.Asp195Glu) n.656T>G | |
| 5 | g.78964521A>G | CA445102040 | ARSB | c.585T>C (p.Asp195=) n.656T>C | |
| 5 | g.78964521A>T | CA360193296 | ARSB | c.585T>A (p.Asp195Glu) n.656T>A | |
| 5 | g.78964522T>A | CA360193298 | ARSB | c.584A>T (p.Asp195Val) n.655A>T | |
| 5 | g.78964522T>C | CA360193299 | ARSB | c.584A>G (p.Asp195Gly) n.655A>G | |
| 5 | g.78964522T>G | CA360193300 | ARSB | c.584A>C (p.Asp195Ala) n.655A>C | |
| 5 | g.78964523C>A | CA360193301 | ARSB | c.583G>T (p.Asp195Tyr) n.654G>T | |
| 5 | g.78964523C>G | CA360193302 | ARSB | c.583G>C (p.Asp195His) n.654G>C | |
| 5 | g.78964523C>T | CA360193303 | ARSB | c.583G>A (p.Asp195Asn) n.654G>A | |
| 5 | g.78964524A>C | CA445102052 | ARSB | c.582T>G (p.Leu194=) n.653T>G | ClinVar |
| 5 | g.78964524A>G | CA445102054 | ARSB | c.582T>C (p.Leu194=) n.653T>C | |
| 5 | g.78964524A>T | CA445102053 | ARSB | c.582T>A (p.Leu194=) n.653T>A | |
| 5 | g.78964525A>C | CA360193304 | ARSB | c.581T>G (p.Leu194Arg) n.652T>G | |
| 5 | g.78964525A>G | CA360193306 | ARSB | c.581T>C (p.Leu194Pro) n.652T>C | |
| 5 | g.78964525A>T | CA360193305 | ARSB | c.581T>A (p.Leu194His) n.652T>A | |
| 5 | g.78964526G>A | CA360193307 | ARSB | c.580C>T (p.Leu194Phe) n.651C>T | gnomAD v4 |
| 5 | g.78964526G>C | CA360193308 | ARSB | c.580C>G (p.Leu194Val) n.651C>G | dbSNP gnomAD v4 |
| 5 | g.78964526G>T | CA360193309 | ARSB | c.580C>A (p.Leu194Ile) n.651C>A | gnomAD v4 |
| 5 | g.78964527A>C | CA445102057 | ARSB | c.579T>G (p.Ala193=) n.650T>G | |
| 5 | g.78964527A>G | CA445102061 | ARSB | c.579T>C (p.Ala193=) n.650T>C | |
| 5 | g.78964527A>T | CA445102063 | ARSB | c.579T>A (p.Ala193=) n.650T>A | |
| 5 | g.78964528G>A | CA360193310 | ARSB | c.578C>T (p.Ala193Val) n.649C>T | gnomAD v4 |
| 5 | g.78964528G>C | CA360193311 | ARSB | c.578C>G (p.Ala193Gly) n.649C>G | |
| 5 | g.78964528G>T | CA360193312 | ARSB | c.578C>A (p.Ala193Asp) n.649C>A | |
| 5 | g.78964529C>A | CA360193313 | ARSB | c.577G>T (p.Ala193Ser) n.648G>T | |
| 5 | g.78964529C>G | CA360193314 | ARSB | c.577G>C (p.Ala193Pro) n.648G>C | |
| 5 | g.78964529C>T | CA360193315 | ARSB | c.577G>A (p.Ala193Thr) n.648G>A | |
| 5 | g.78964530A>C | CA360193316 | ARSB | c.576T>G (p.Cys192Trp) n.647T>G | |
| 5 | g.78964530A>G | CA445102092 | ARSB | c.576T>C (p.Cys192=) n.647T>C | |
| 5 | g.78964530A>T | CA360193317 | ARSB | c.576T>A (p.Cys192Ter) n.647T>A | gnomAD v4 |
| 5 | g.78964531C>A | CA360193320 | ARSB | c.575G>T (p.Cys192Phe) n.646G>T | |
| 5 | g.78964531C>G | CA360193319 | ARSB | c.575G>C (p.Cys192Ser) n.646G>C | |
| 5 | g.78964531C>T | CA360193318 | ARSB | c.575G>A (p.Cys192Tyr) n.646G>A | |
| 5 | g.78964532A= | CA1557701756 | ARSB | c.574T= (p.Cys192=) n.645T= | |
| 5 | g.78964532A>C | CA360193321 | ARSB | c.574T>G (p.Cys192Gly) n.645T>G | |
| 5 | g.78964532A>G | CA360193323 | ARSB | c.574T>C (p.Cys192Arg) n.645T>C | ClinVar dbSNP |
| 5 | g.78964532A>T | CA360193322 | ARSB | c.574T>A (p.Cys192Ser) n.645T>A | |
| 5 | g.78964533T>A | CA445102128 | ARSB | c.573A>T (p.Arg191=) n.644A>T | |
| 5 | g.78964533T>C | CA445102131 | ARSB | c.573A>G (p.Arg191=) n.644A>G | gnomAD v4 |
| 5 | g.78964533T>G | CA445102133 | ARSB | c.573A>C (p.Arg191=) n.644A>C | |
| 5 | g.78964534C>A | CA360193324 | ARSB | c.572G>T (p.Arg191Leu) n.643G>T | gnomAD v4 |
| 5 | g.78964534C= | CA1557701757 | ARSB | c.572G= (p.Arg191=) n.643G= | |
| 5 | g.78964534C>G | CA360193325 | ARSB | c.572G>C (p.Arg191Pro) n.643G>C | |
| 5 | g.78964534C>T | CA3318227 | ARSB | c.572G>A (p.Arg191Gln) n.643G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964535G>A | CA121104145 | ARSB | c.571C>T (p.Arg191Ter) n.642C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964535G>C | CA360193326 | ARSB | c.571C>G (p.Arg191Gly) n.642C>G | dbSNP |
| 5 | g.78964535G= | CA1557701758 | ARSB | c.571C= (p.Arg191=) n.642C= | |
| 5 | g.78964535G>T | CA445102144 | ARSB | c.571C>A (p.Arg191=) n.642C>A | |
| 5 | g.78964536T>A | CA445102155 | ARSB | c.570A>T (p.Thr190=) n.641A>T | |
| 5 | g.78964536T>C | CA3318228 | ARSB | c.570A>G (p.Thr190=) n.641A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964536T>G | CA445102167 | ARSB | c.570A>C (p.Thr190=) n.641A>C | |
| 5 | g.78964536T= | CA1557701759 | ARSB | c.570A= (p.Thr190=) n.641A= | |
| 5 | g.78964537G>A | CA3318229 | ARSB | c.569C>T (p.Thr190Ile) n.640C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964537G>C | CA360193327 | ARSB | c.569C>G (p.Thr190Arg) n.640C>G | |
| 5 | g.78964537G= | CA1557701760 | ARSB | c.569C= (p.Thr190=) n.640C= | |
| 5 | g.78964537G>T | CA360193328 | ARSB | c.569C>A (p.Thr190Lys) n.640C>A | |
| 5 | g.78964538T>A | CA3318230 | ARSB | c.568A>T (p.Thr190Ser) n.639A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964538T>C | CA121104174 | ARSB | c.568A>G (p.Thr190Ala) n.639A>G | dbSNP |
| 5 | g.78964538T>G | CA360193329 | ARSB | c.568A>C (p.Thr190Pro) n.639A>C | |
| 5 | g.78964538T= | CA1557701761 | ARSB | c.568A= (p.Thr190=) n.639A= |