Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
9 | g.127825231C>A | CA374982995 | ENG | c.270G>T (p.Trp90Cys) c.816G>T (p.Trp272Cys) | |
9 | g.127825231C= | CA1879974233 | ENG | c.270G= (p.Trp90=) c.816G= (p.Trp272=) | |
9 | g.127825231C>G | CA374982997 | ENG | c.270G>C (p.Trp90Cys) c.816G>C (p.Trp272Cys) | |
9 | g.127825231C>T | CA10603083 | ENG | c.270G>A (p.Trp90Ter) c.816G>A (p.Trp272Ter) | ClinVar dbSNP |
9 | g.127825232C>A | CA374983002 | ENG | c.269G>T (p.Trp90Leu) c.815G>T (p.Trp272Leu) | |
9 | g.127825232C= | CA1879974242 | ENG | c.269G= (p.Trp90=) c.815G= (p.Trp272=) | |
9 | g.127825232C>G | CA374983004 | ENG | c.269G>C (p.Trp90Ser) c.815G>C (p.Trp272Ser) | |
9 | g.127825232C>T | CA374983007 | ENG | c.269G>A (p.Trp90Ter) c.815G>A (p.Trp272Ter) | ClinVar dbSNP |
9 | g.127825233A>C | CA374983008 | ENG | c.268T>G (p.Trp90Gly) c.814T>G (p.Trp272Gly) | |
9 | g.127825233A>G | CA374983010 | ENG | c.268T>C (p.Trp90Arg) c.814T>C (p.Trp272Arg) | |
9 | g.127825233A>T | CA374983012 | ENG | c.268T>A (p.Trp90Arg) c.814T>A (p.Trp272Arg) | |
9 | g.127825234G>A | CA467475080 | ENG | c.267C>T (p.Ile89=) c.813C>T (p.Ile271=) | |
9 | g.127825234G>C | CA374983015 | ENG | c.267C>G (p.Ile89Met) c.813C>G (p.Ile271Met) | |
9 | g.127825234G>T | CA467475081 | ENG | c.267C>A (p.Ile89=) c.813C>A (p.Ile271=) | |
9 | g.127825235A= | CA1879974244 | ENG | c.266T= (p.Ile89=) c.812T= (p.Ile271=) | |
9 | g.127825235A>C | CA374983018 | ENG | c.266T>G (p.Ile89Ser) c.812T>G (p.Ile271Ser) | |
9 | g.127825235A>G | CA374983022 | ENG | c.266T>C (p.Ile89Thr) c.812T>C (p.Ile271Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825235A>T | CA374983020 | ENG | c.266T>A (p.Ile89Asn) c.812T>A (p.Ile271Asn) | |
9 | g.127825236T>A | CA374983024 | ENG | c.265A>T (p.Ile89Phe) c.811A>T (p.Ile271Phe) | |
9 | g.127825236T>C | CA374983027 | ENG | c.265A>G (p.Ile89Val) c.811A>G (p.Ile271Val) | |
9 | g.127825236T>G | CA374983029 | ENG | c.265A>C (p.Ile89Leu) c.811A>C (p.Ile271Leu) | |
9 | g.127825237C>A | CA374983032 | ENG | c.264G>T (p.Gln88His) c.810G>T (p.Gln270His) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825237C= | CA1879974248 | ENG | c.264G= (p.Gln88=) c.810G= (p.Gln270=) | |
9 | g.127825237C>G | CA374983034 | ENG | c.264G>C (p.Gln88His) c.810G>C (p.Gln270His) | |
9 | g.127825237C>T | CA467475082 | ENG | c.264G>A (p.Gln88=) c.810G>A (p.Gln270=) | |
9 | g.127825238T>A | CA374983036 | ENG | c.263A>T (p.Gln88Leu) c.809A>T (p.Gln270Leu) | |
9 | g.127825238T>C | CA5252979 | ENG | c.263A>G (p.Gln88Arg) c.809A>G (p.Gln270Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825238T>G | CA374983038 | ENG | c.263A>C (p.Gln88Pro) c.809A>C (p.Gln270Pro) | |
9 | g.127825238T= | CA1879974254 | ENG | c.263A= (p.Gln88=) c.809A= (p.Gln270=) | |
9 | g.127825239G>A | CA374983040 | ENG | c.262C>T (p.Gln88Ter) c.808C>T (p.Gln270Ter) | ClinVar dbSNP |
9 | g.127825239G>C | CA374983041 | ENG | c.262C>G (p.Gln88Glu) c.808C>G (p.Gln270Glu) | |
9 | g.127825239G= | CA1879974260 | ENG | c.262C= (p.Gln88=) c.808C= (p.Gln270=) | |
9 | g.127825239G>T | CA374983044 | ENG | c.262C>A (p.Gln88Lys) c.808C>A (p.Gln270Lys) | gnomAD v4 |
9 | g.127825240C>A | CA374983051 | ENG | c.261G>T (p.Met87Ile) c.807G>T (p.Met269Ile) | |
9 | g.127825240C>G | CA374983049 | ENG | c.261G>C (p.Met87Ile) c.807G>C (p.Met269Ile) | |
9 | g.127825240C>T | CA374983047 | ENG | c.261G>A (p.Met87Ile) c.807G>A (p.Met269Ile) | gnomAD v4 |
9 | g.127825241A= | CA1879974278 | ENG | c.260T= (p.Met87=) c.806T= (p.Met269=) | |
9 | g.127825241A>C | CA374983056 | ENG | c.260T>G (p.Met87Arg) c.806T>G (p.Met269Arg) | ClinVar dbSNP |
9 | g.127825241A>G | CA5252980 | ENG | c.260T>C (p.Met87Thr) c.806T>C (p.Met269Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825241A>T | CA374983058 | ENG | c.260T>A (p.Met87Lys) c.806T>A (p.Met269Lys) | ClinVar dbSNP |
9 | g.127825242T>A | CA374983061 | ENG | c.259A>T (p.Met87Leu) c.805A>T (p.Met269Leu) | gnomAD v4 |
9 | g.127825242T>C | CA374983063 | ENG | c.259A>G (p.Met87Val) c.805A>G (p.Met269Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825242T>G | CA374983065 | ENG | c.259A>C (p.Met87Leu) c.805A>C (p.Met269Leu) | dbSNP gnomAD v2 |
9 | g.127825242T= | CA1879974294 | ENG | c.259A= (p.Met87=) c.805A= (p.Met269=) | |
9 | g.127825242_127825248delinsTGTTGTG | CA1879974299 | ENG | c.253_259delinsCACAACA (p.His85=) c.799_805delinsCACAACA (p.His267=) | |
9 | g.127825243G>A | CA467475083 | ENG | c.258C>T (p.Asn86=) c.804C>T (p.Asn268=) | gnomAD v4 |