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.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 |
9 | g.127825243G>C | CA374983068 | ENG | c.258C>G (p.Asn86Lys) c.804C>G (p.Asn268Lys) | |
9 | g.127825243G>T | CA374983070 | ENG | c.258C>A (p.Asn86Lys) c.804C>A (p.Asn268Lys) | |
9 | g.127825247_127825252del | CA915947174 | ENG | c.253_258del (p.His85_Asn86del) c.799_804del (p.His267_Asn268del) | ClinVar dbSNP |
9 | g.127825244T>A | CA374983073 | ENG | c.257A>T (p.Asn86Ile) c.803A>T (p.Asn268Ile) | |
9 | g.127825244T>C | CA374983075 | ENG | c.257A>G (p.Asn86Ser) c.803A>G (p.Asn268Ser) | |
9 | g.127825244T>G | CA374983077 | ENG | c.257A>C (p.Asn86Thr) c.803A>C (p.Asn268Thr) | |
9 | g.127825245T>A | CA374983080 | ENG | c.256A>T (p.Asn86Tyr) c.802A>T (p.Asn268Tyr) | |
9 | g.127825245T>C | CA374983082 | ENG | c.256A>G (p.Asn86Asp) c.802A>G (p.Asn268Asp) | |
9 | g.127825245T>G | CA374983084 | ENG | c.256A>C (p.Asn86His) c.802A>C (p.Asn268His) | |
9 | g.127825246G>A | CA467475084 | ENG | c.255C>T (p.His85=) c.801C>T (p.His267=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825246G>C | CA374983086 | ENG | c.255C>G (p.His85Gln) c.801C>G (p.His267Gln) | |
9 | g.127825246G= | CA1879974308 | ENG | c.255C= (p.His85=) c.801C= (p.His267=) | |
9 | g.127825246G>T | CA374983090 | ENG | c.255C>A (p.His85Gln) c.801C>A (p.His267Gln) | |
9 | g.127825247T>A | CA374983096 | ENG | c.254A>T (p.His85Leu) c.800A>T (p.His267Leu) | |
9 | g.127825247T>C | CA374983092 | ENG | c.254A>G (p.His85Arg) c.800A>G (p.His267Arg) | |
9 | g.127825247T>G | CA374983094 | ENG | c.254A>C (p.His85Pro) c.800A>C (p.His267Pro) | |
9 | g.127825248G>A | CA374983101 | ENG | c.253C>T (p.His85Tyr) c.799C>T (p.His267Tyr) | |
9 | g.127825248G>C | CA374983102 | ENG | c.253C>G (p.His85Asp) c.799C>G (p.His267Asp) | |
9 | g.127825248G= | CA1879974313 | ENG | c.253C= (p.His85=) c.799C= (p.His267=) | |
9 | g.127825248G>T | CA374983104 | ENG | c.253C>A (p.His85Asn) c.799C>A (p.His267Asn) | dbSNP |
9 | g.127825249G>A | CA467475085 | ENG | c.252C>T (p.Asn84=) c.798C>T (p.Asn266=) | gnomAD v4 |
9 | g.127825249G>C | CA374983107 | ENG | c.252C>G (p.Asn84Lys) c.798C>G (p.Asn266Lys) | |
9 | g.127825249G>T | CA374983108 | ENG | c.252C>A (p.Asn84Lys) c.798C>A (p.Asn266Lys) | |
9 | g.127825250_127825258del | CA2573143975 | ENG | c.244_252del (p.Asp82_Asn84del) c.790_798del (p.Asp264_Asn266del) | ClinVar dbSNP |
9 | g.127825250T>A | CA374983112 | ENG | c.251A>T (p.Asn84Ile) c.797A>T (p.Asn266Ile) | gnomAD v4 |
9 | g.127825250T>C | CA374983114 | ENG | c.251A>G (p.Asn84Ser) c.797A>G (p.Asn266Ser) | |
9 | g.127825250T>G | CA374983116 | ENG | c.251A>C (p.Asn84Thr) c.797A>C (p.Asn266Thr) | |
9 | g.127825251T>A | CA374983119 | ENG | c.250A>T (p.Asn84Tyr) c.796A>T (p.Asn266Tyr) | |
9 | g.127825251T>C | CA374983121 | ENG | c.250A>G (p.Asn84Asp) c.796A>G (p.Asn266Asp) |