| 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.50626234A= | CA2410958932 | ARSA | c.899T= (p.Leu300=) c.641T= (p.Leu214=) | |
| 22 | g.50626234A>C | CA412174773 | ARSA | c.899T>G (p.Leu300Trp) c.641T>G (p.Leu214Trp) | ClinVar |
| 22 | g.50626234A>G | CA219070 | ARSA | c.899T>C (p.Leu300Ser) c.641T>C (p.Leu214Ser) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626234A>T | CA412174792 | ARSA | c.899T>A (p.Leu300Ter) c.641T>A (p.Leu214Ter) | |
| 22 | g.50626235A>C | CA412174796 | ARSA | c.898T>G (p.Leu300Val) c.640T>G (p.Leu214Val) | |
| 22 | g.50626235A>G | CA515248983 | ARSA | c.898T>C (p.Leu300=) c.640T>C (p.Leu214=) | ClinVar gnomAD v4 |
| 22 | g.50626235A>T | CA412174799 | ARSA | c.898T>A (p.Leu300Met) c.640T>A (p.Leu214Met) | |
| 22 | g.50626236G>A | CA515248984 | ARSA | c.897C>T (p.Leu299=) c.639C>T (p.Leu213=) | COSMIC |
| 22 | g.50626236G>C | CA515248985 | ARSA | c.897C>G (p.Leu299=) c.639C>G (p.Leu213=) | |
| 22 | g.50626236G>T | CA515248986 | ARSA | c.897C>A (p.Leu299=) c.639C>A (p.Leu213=) | |
| 22 | g.50626237A= | CA2410958933 | ARSA | c.896T= (p.Leu299=) c.638T= (p.Leu213=) | |
| 22 | g.50626237A>C | CA412174801 | ARSA | c.896T>G (p.Leu299Arg) c.638T>G (p.Leu213Arg) | |
| 22 | g.50626237A>G | CA10324883 | ARSA | c.896T>C (p.Leu299Pro) c.638T>C (p.Leu213Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626237A>T | CA412174808 | ARSA | c.896T>A (p.Leu299His) c.638T>A (p.Leu213His) | |
| 22 | g.50626238G>A | CA412174812 | ARSA | c.895C>T (p.Leu299Phe) c.637C>T (p.Leu213Phe) | dbSNP |
| 22 | g.50626238G>C | CA412174814 | ARSA | c.895C>G (p.Leu299Val) c.637C>G (p.Leu213Val) | |
| 22 | g.50626238G= | CA2410958934 | ARSA | c.895C= (p.Leu299=) c.637C= (p.Leu213=) | |
| 22 | g.50626238G>T | CA412174810 | ARSA | c.895C>A (p.Leu299Ile) c.637C>A (p.Leu213Ile) | |
| 22 | g.50626240_50626244del | CA2580099941 | ARSA | c.891_895del (p.Gly298LeufsTer?) c.633_637del (p.Gly212LeufsTer?) | ClinVar |
| 22 | g.50626239A>C | CA515248987 | ARSA | c.894T>G (p.Gly298=) c.636T>G (p.Gly212=) | |
| 22 | g.50626239A>G | CA515248988 | ARSA | c.894T>C (p.Gly298=) c.636T>C (p.Gly212=) | gnomAD v4 |
| 22 | g.50626239A>T | CA515248989 | ARSA | c.894T>A (p.Gly298=) c.636T>A (p.Gly212=) | |
| 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=) |