Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | ClinVar gnomAD v4 |
22 | g.50626240_50626244del | CA2580099941 | ARSA | c.891_895del (p.Gly298LeufsTer?) c.633_637del (p.Gly212LeufsTer?) | ClinVar |
22 | g.50626240C>A | CA325531356 | ARSA | c.893G>T (p.Gly298Val) c.635G>T (p.Gly212Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626240C= | CA2410958935 | ARSA | c.893G= (p.Gly298=) c.635G= (p.Gly212=) | |
22 | g.50626240C>G | CA412174818 | ARSA | c.893G>C (p.Gly298Ala) c.635G>C (p.Gly212Ala) | |
22 | g.50626240C>T | CA412174819 | ARSA | c.893G>A (p.Gly298Asp) c.635G>A (p.Gly212Asp) | |
22 | g.50626241C>A | CA412174821 | ARSA | c.892G>T (p.Gly298Cys) c.634G>T (p.Gly212Cys) | ClinVar dbSNP |
22 | g.50626241C= | CA2410958937 | ARSA | c.892G= (p.Gly298=) c.634G= (p.Gly212=) | |
22 | g.50626241C>G | CA412174824 | ARSA | c.892G>C (p.Gly298Arg) c.634G>C (p.Gly212Arg) | dbSNP gnomAD v4 |
22 | g.50626241C>T | CA10324884 | ARSA | c.892G>A (p.Gly298Ser) c.634G>A (p.Gly212Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626241_50626242delinsCG | CA2410958936 | ARSA | c.891_892delinsCG (p.Ser297=) c.633_634delinsCG (p.Ser211=) | |
22 | g.50626242G>A | CA10324885 | ARSA | c.891C>T (p.Ser297=) c.633C>T (p.Ser211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626242G>C | CA515248991 | ARSA | c.891C>G (p.Ser297=) c.633C>G (p.Ser211=) | |
22 | g.50626242G= | CA2410958938 | ARSA | c.891C= (p.Ser297=) c.633C= (p.Ser211=) | |
22 | g.50626242G>T | CA515248990 | ARSA | c.891C>A (p.Ser297=) c.633C>A (p.Ser211=) | ClinVar |
22 | g.50626243del | CA16042038 | ARSA | c.891del (p.Gly298ValfsTer?) c.633del (p.Gly212ValfsTer?) | ClinVar dbSNP gnomAD v4 |
22 | g.50626243G>A | CA412174845 | ARSA | c.890C>T (p.Ser297Phe) c.632C>T (p.Ser211Phe) | |
22 | g.50626243G>C | CA412174848 | ARSA | c.890C>G (p.Ser297Cys) c.632C>G (p.Ser211Cys) | |
22 | g.50626243G= | CA2410958939 | ARSA | c.890C= (p.Ser297=) c.632C= (p.Ser211=) | |
22 | g.50626243G>T | CA115987 | ARSA | c.890C>A (p.Ser297Tyr) c.632C>A (p.Ser211Tyr) | ClinVar dbSNP |
22 | g.50626244A>C | CA412174852 | ARSA | c.889T>G (p.Ser297Ala) c.631T>G (p.Ser211Ala) | |
22 | g.50626244A>G | CA412174854 | ARSA | c.889T>C (p.Ser297Pro) c.631T>C (p.Ser211Pro) | |
22 | g.50626244A>T | CA412174860 | ARSA | c.889T>A (p.Ser297Thr) c.631T>A (p.Ser211Thr) | |
22 | g.50626245G>A | CA10324886 | ARSA | c.888C>T (p.Cys296=) c.630C>T (p.Cys210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626245G>C | CA412174864 | ARSA | c.888C>G (p.Cys296Trp) c.630C>G (p.Cys210Trp) | |
22 | g.50626245G= | CA2410958940 | ARSA | c.888C= (p.Cys296=) c.630C= (p.Cys210=) | |
22 | g.50626245G>T | CA412174868 | ARSA | c.888C>A (p.Cys296Ter) c.630C>A (p.Cys210Ter) | gnomAD v4 |
22 | g.50626246C>A | CA412174879 | ARSA | c.887G>T (p.Cys296Phe) c.629G>T (p.Cys210Phe) | |
22 | g.50626246C= | CA2410958941 | ARSA | c.887G= (p.Cys296=) c.629G= (p.Cys210=) | |
22 | g.50626246C>G | CA412174881 | ARSA | c.887G>C (p.Cys296Ser) c.629G>C (p.Cys210Ser) | |
22 | g.50626246C>T | CA219068 | ARSA | c.887G>A (p.Cys296Tyr) c.629G>A (p.Cys210Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626247A>C | CA412174896 | ARSA | c.886T>G (p.Cys296Gly) c.628T>G (p.Cys210Gly) | |
22 | g.50626247A>G | CA412174908 | ARSA | c.886T>C (p.Cys296Arg) c.628T>C (p.Cys210Arg) | |
22 | g.50626247A>T | CA412174911 | ARSA | c.886T>A (p.Cys296Ser) c.628T>A (p.Cys210Ser) | |
22 | g.50626248G>A | CA515248992 | ARSA | c.885C>T (p.Gly295=) c.627C>T (p.Gly209=) | |
22 | g.50626248G>C | CA515248993 | ARSA | c.885C>G (p.Gly295=) c.627C>G (p.Gly209=) | |
22 | g.50626248G>T | CA515248994 | ARSA | c.885C>A (p.Gly295=) c.627C>A (p.Gly209=) | |
22 | g.50626249C>A | CA412174915 | ARSA | c.884G>T (p.Gly295Val) c.626G>T (p.Gly209Val) | |
22 | g.50626249C= | CA2410958942 | ARSA | c.884G= (p.Gly295=) c.626G= (p.Gly209=) | |
22 | g.50626249C>G | CA412174919 | ARSA | c.884G>C (p.Gly295Ala) c.626G>C (p.Gly209Ala) | |
22 | g.50626249C>T | CA219066 | ARSA | c.884G>A (p.Gly295Asp) c.626G>A (p.Gly209Asp) | ClinVar dbSNP |
22 | g.50626249_50626259delinsCCGCCTCGGGA | CA2410958943 | ARSA | c.874_884delinsTCCCGAGGCGG (p.Ser292=) c.616_626delinsTCCCGAGGCGG (p.Ser206=) | |
22 | g.50626250C>A | CA412174927 | ARSA | c.883G>T (p.Gly295Cys) c.625G>T (p.Gly209Cys) | |
22 | g.50626250C= | CA2410958944 | ARSA | c.883G= (p.Gly295=) c.625G= (p.Gly209=) | |
22 | g.50626250C>G | CA412174930 | ARSA | c.883G>C (p.Gly295Arg) c.625G>C (p.Gly209Arg) | |
22 | g.50626250C>T | CA219064 | ARSA | c.883G>A (p.Gly295Ser) c.625G>A (p.Gly209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626251_50626260del | CA1139667194 | ARSA | c.874_883del (p.Ser292AlafsTer?) c.616_625del (p.Ser206AlafsTer?) | ClinVar dbSNP |
22 | g.50626251G>A | CA10324887 | ARSA | c.882C>T (p.Gly294=) c.624C>T (p.Gly208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626251G>C | CA515248995 | ARSA | c.882C>G (p.Gly294=) c.624C>G (p.Gly208=) | |
22 | g.50626251G= | CA2410958945 | ARSA | c.882C= (p.Gly294=) c.624C= (p.Gly208=) |