Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626226C>A | CA412174711 | ARSA | c.907G>T (p.Gly303Ter) c.649G>T (p.Gly217Ter) | |
22 | g.50626226C= | CA2410958925 | ARSA | c.907G= (p.Gly303=) c.649G= (p.Gly217=) | |
22 | g.50626226C>G | CA412174713 | ARSA | c.907G>C (p.Gly303Arg) c.649G>C (p.Gly217Arg) | |
22 | g.50626226C>T | CA412174715 | ARSA | c.907G>A (p.Gly303Arg) c.649G>A (p.Gly217Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | ClinVar gnomAD v4 |
22 | g.50626227A>C | CA412174720 | ARSA | c.906T>G (p.Cys302Trp) c.648T>G (p.Cys216Trp) | |
22 | g.50626227A>G | CA515248979 | ARSA | c.906T>C (p.Cys302=) c.648T>C (p.Cys216=) | |
22 | g.50626227A>T | CA412174725 | ARSA | c.906T>A (p.Cys302Ter) c.648T>A (p.Cys216Ter) | |
22 | g.50626228C>A | CA116011 | ARSA | c.905G>T (p.Cys302Phe) c.647G>T (p.Cys216Phe) | ClinVar dbSNP |
22 | g.50626228C= | CA2410958926 | ARSA | c.905G= (p.Cys302=) c.647G= (p.Cys216=) | |
22 | g.50626228C>G | CA412174730 | ARSA | c.905G>C (p.Cys302Ser) c.647G>C (p.Cys216Ser) | |
22 | g.50626228C>T | CA412174737 | ARSA | c.905G>A (p.Cys302Tyr) c.647G>A (p.Cys216Tyr) | ClinVar dbSNP gnomAD v4 |
22 | g.50626229A= | CA2410958927 | ARSA | c.904T= (p.Cys302=) c.646T= (p.Cys216=) | |
22 | g.50626229A>C | CA412174741 | ARSA | c.904T>G (p.Cys302Gly) c.646T>G (p.Cys216Gly) | dbSNP |
22 | g.50626229A>G | CA412174744 | ARSA | c.904T>C (p.Cys302Arg) c.646T>C (p.Cys216Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626229A>T | CA412174747 | ARSA | c.904T>A (p.Cys302Ser) c.646T>A (p.Cys216Ser) | |
22 | g.50626230C>A | CA515248980 | ARSA | c.903G>T (p.Arg301=) c.645G>T (p.Arg215=) | |
22 | g.50626230C= | CA2410958928 | ARSA | c.903G= (p.Arg301=) c.645G= (p.Arg215=) | |
22 | g.50626230C>G | CA515248981 | ARSA | c.903G>C (p.Arg301=) c.645G>C (p.Arg215=) | |
22 | g.50626230C>T | CA10324879 | ARSA | c.903G>A (p.Arg301=) c.645G>A (p.Arg215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626231_50626233del | CA2657592496 | ARSA | c.901_903del (p.Arg301del) c.643_645del (p.Arg215del) | gnomAD v4 |
22 | g.50626231C>A | CA325531349 | ARSA | c.902G>T (p.Arg301Leu) c.644G>T (p.Arg215Leu) | dbSNP gnomAD v4 |
22 | g.50626231C= | CA2410958929 | ARSA | c.902G= (p.Arg301=) c.644G= (p.Arg215=) | |
22 | g.50626231C>G | CA412174756 | ARSA | c.902G>C (p.Arg301Pro) c.644G>C (p.Arg215Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626231C>T | CA10324880 | ARSA | c.902G>A (p.Arg301Gln) c.644G>A (p.Arg215Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50626232G>A | CA412174765 | ARSA | c.901C>T (p.Arg301Trp) c.643C>T (p.Arg215Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626232G>C | CA245949 | ARSA | c.901C>G (p.Arg301Gly) c.643C>G (p.Arg215Gly) | ClinVar dbSNP gnomAD v4 |
22 | g.50626232G= | CA2410958930 | ARSA | c.901C= (p.Arg301=) c.643C= (p.Arg215=) | |
22 | g.50626232G>T | CA515248982 | ARSA | c.901C>A (p.Arg301=) c.643C>A (p.Arg215=) | |
22 | g.50626232_50626233delinsAT | CA2695231028 | ARSA | c.900_901delinsAT (p.Arg301Trp) c.642_643delinsAT (p.Arg215Trp) | |
22 | g.50626233C>A | CA412174771 | ARSA | c.900G>T (p.Leu300Phe) c.642G>T (p.Leu214Phe) | gnomAD v4 |
22 | g.50626233C= | CA2410958931 | ARSA | c.900G= (p.Leu300=) c.642G= (p.Leu214=) | |
22 | g.50626233C>G | CA10324882 | ARSA | c.900G>C (p.Leu300Phe) c.642G>C (p.Leu214Phe) | dbSNP ExAC gnomAD v2 |
22 | g.50626233C>T | CA10324881 | ARSA | c.900G>A (p.Leu300=) c.642G>A (p.Leu214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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) |