Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |