UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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) | |
| 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=) | |
| 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=) | |
| 22 | g.50626251G>T | CA515248996 | ARSA | c.882C>A (p.Gly294=) c.624C>A (p.Gly208=) | |
| 22 | g.50626252C>A | CA412174946 | ARSA | c.881G>T (p.Gly294Val) c.623G>T (p.Gly208Val) | |
| 22 | g.50626252C>G | CA412174939 | ARSA | c.881G>C (p.Gly294Ala) c.623G>C (p.Gly208Ala) | |
| 22 | g.50626252C>T | CA412174941 | ARSA | c.881G>A (p.Gly294Asp) c.623G>A (p.Gly208Asp) | |
| 22 | g.50626253C>A | CA412174952 | ARSA | c.880G>T (p.Gly294Cys) c.622G>T (p.Gly208Cys) | |
| 22 | g.50626253C>G | CA412174955 | ARSA | c.880G>C (p.Gly294Arg) c.622G>C (p.Gly208Arg) | |
| 22 | g.50626253C>T | CA412174960 | ARSA | c.880G>A (p.Gly294Ser) c.622G>A (p.Gly208Ser) | |
| 22 | g.50626254T>A | CA515248997 | ARSA | c.879A>T (p.Arg293=) c.621A>T (p.Arg207=) | |
| 22 | g.50626254T>C | CA515248998 | ARSA | c.879A>G (p.Arg293=) c.621A>G (p.Arg207=) | |
| 22 | g.50626254T>G | CA515248999 | ARSA | c.879A>C (p.Arg293=) c.621A>C (p.Arg207=) | |
| 22 | g.50626255C>A | CA412174961 | ARSA | c.878G>T (p.Arg293Leu) c.620G>T (p.Arg207Leu) | |
| 22 | g.50626255C= | CA2410958946 | ARSA | c.878G= (p.Arg293=) c.620G= (p.Arg207=) | |
| 22 | g.50626255C>G | CA412174962 | ARSA | c.878G>C (p.Arg293Pro) c.620G>C (p.Arg207Pro) | gnomAD v4 |
| 22 | g.50626255C>T | CA10324888 | ARSA | c.878G>A (p.Arg293Gln) c.620G>A (p.Arg207Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626256G>A | CA412174968 | ARSA | c.877C>T (p.Arg293Ter) c.619C>T (p.Arg207Ter) | ClinVar dbSNP |
| 22 | g.50626256G>C | CA412174965 | ARSA | c.877C>G (p.Arg293Gly) c.619C>G (p.Arg207Gly) | gnomAD v4 |
| 22 | g.50626256G= | CA2410958947 | ARSA | c.877C= (p.Arg293=) c.619C= (p.Arg207=) | |
| 22 | g.50626256G>T | CA515249000 | ARSA | c.877C>A (p.Arg293=) c.619C>A (p.Arg207=) | |
| 22 | g.50626257G>A | CA515249002 | ARSA | c.876C>T (p.Ser292=) c.618C>T (p.Ser206=) | dbSNP gnomAD v2 |
| 22 | g.50626257G>C | CA515249003 | ARSA | c.876C>G (p.Ser292=) c.618C>G (p.Ser206=) | |
| 22 | g.50626257G= | CA2410958948 | ARSA | c.876C= (p.Ser292=) c.618C= (p.Ser206=) | |
| 22 | g.50626257G>T | CA515249001 | ARSA | c.876C>A (p.Ser292=) c.618C>A (p.Ser206=) | |
| 22 | g.50626258G>A | CA10324889 | ARSA | c.875C>T (p.Ser292Phe) c.617C>T (p.Ser206Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626258G>C | CA412174980 | ARSA | c.875C>G (p.Ser292Cys) c.617C>G (p.Ser206Cys) | |
| 22 | g.50626258G= | CA2410958949 | ARSA | c.875C= (p.Ser292=) c.617C= (p.Ser206=) | |
| 22 | g.50626258G>T | CA412174983 | ARSA | c.875C>A (p.Ser292Tyr) c.617C>A (p.Ser206Tyr) | |
| 22 | g.50626259A>C | CA412174989 | ARSA | c.874T>G (p.Ser292Ala) c.616T>G (p.Ser206Ala) | |
| 22 | g.50626259A>G | CA412174992 | ARSA | c.874T>C (p.Ser292Pro) c.616T>C (p.Ser206Pro) | |
| 22 | g.50626259A>T | CA412174995 | ARSA | c.874T>A (p.Ser292Thr) c.616T>A (p.Ser206Thr) | |
| 22 | g.50626260C>A | CA412175013 | ARSA | c.873G>T (p.Met291Ile) c.615G>T (p.Met205Ile) | |
| 22 | g.50626260C>G | CA412175000 | ARSA | c.873G>C (p.Met291Ile) c.615G>C (p.Met205Ile) | |
| 22 | g.50626260C>T | CA412175005 | ARSA | c.873G>A (p.Met291Ile) c.615G>A (p.Met205Ile) | |
| 22 | g.50626263_50626268del | CA2697552824 | ARSA | c.868_873del (p.Arg290_Met291del) c.610_615del (p.Arg204_Met205del) | ClinVar |
| 22 | g.50626261A= | CA2410958950 | ARSA | c.872T= (p.Met291=) c.614T= (p.Met205=) | |
| 22 | g.50626261A>C | CA412175014 | ARSA | c.872T>G (p.Met291Arg) c.614T>G (p.Met205Arg) | |
| 22 | g.50626261A>G | CA412175015 | ARSA | c.872T>C (p.Met291Thr) c.614T>C (p.Met205Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626261A>T | CA412175018 | ARSA | c.872T>A (p.Met291Lys) c.614T>A (p.Met205Lys) | |
| 22 | g.50626262T>A | CA412175024 | ARSA | c.871A>T (p.Met291Leu) c.613A>T (p.Met205Leu) | |
| 22 | g.50626262T>C | CA412175029 | ARSA | c.871A>G (p.Met291Val) c.613A>G (p.Met205Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626262T>G | CA412175032 | ARSA | c.871A>C (p.Met291Leu) c.613A>C (p.Met205Leu) | |
| 22 | g.50626262T= | CA2410958951 | ARSA | c.871A= (p.Met291=) c.613A= (p.Met205=) | |
| 22 | g.50626263A= | CA2410958952 | ARSA | c.870T= (p.Arg290=) c.612T= (p.Arg204=) | |
| 22 | g.50626263A>C | CA515249005 | ARSA | c.870T>G (p.Arg290=) c.612T>G (p.Arg204=) | |
| 22 | g.50626263A>G | CA515249006 | ARSA | c.870T>C (p.Arg290=) c.612T>C (p.Arg204=) | ClinVar dbSNP |
| 22 | g.50626263A>T | CA515249004 | ARSA | c.870T>A (p.Arg290=) c.612T>A (p.Arg204=) | |
| 22 | g.50626264C>A | CA412175036 | ARSA | c.869G>T (p.Arg290Leu) c.611G>T (p.Arg204Leu) | ClinVar gnomAD v4 |
| 22 | g.50626264C= | CA2410958953 | ARSA | c.869G= (p.Arg290=) c.611G= (p.Arg204=) | |
| 22 | g.50626264C>G | CA412175040 | ARSA | c.869G>C (p.Arg290Pro) c.611G>C (p.Arg204Pro) | ClinVar |
| 22 | g.50626264C>T | CA219062 | ARSA | c.869G>A (p.Arg290His) c.611G>A (p.Arg204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626265G>A | CA278036 | ARSA | c.868C>T (p.Arg290Cys) c.610C>T (p.Arg204Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626265G>C | CA412175055 | ARSA | c.868C>G (p.Arg290Gly) c.610C>G (p.Arg204Gly) | ClinVar |
| 22 | g.50626265G= | CA2410958954 | ARSA | c.868C= (p.Arg290=) c.610C= (p.Arg204=) | |
| 22 | g.50626265G>T | CA412175058 | ARSA | c.868C>A (p.Arg290Ser) c.610C>A (p.Arg204Ser) | |
| 22 | g.50626266C>A | CA412175064 | ARSA | c.867G>T (p.Met289Ile) c.609G>T (p.Met203Ile) | |
| 22 | g.50626266C= | CA2410958955 | ARSA | c.867G= (p.Met289=) c.609G= (p.Met203=) | |
| 22 | g.50626266C>G | CA412175071 | ARSA | c.867G>C (p.Met289Ile) c.609G>C (p.Met203Ile) | |
| 22 | g.50626266C>T | CA10324890 | ARSA | c.867G>A (p.Met289Ile) c.609G>A (p.Met203Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626267A= | CA2410958956 | ARSA | c.866T= (p.Met289=) c.608T= (p.Met203=) | |
| 22 | g.50626267A>C | CA412175076 | ARSA | c.866T>G (p.Met289Arg) c.608T>G (p.Met203Arg) | gnomAD v4 |
| 22 | g.50626267A>G | CA10324891 | ARSA | c.866T>C (p.Met289Thr) c.608T>C (p.Met203Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626267A>T | CA412175080 | ARSA | c.866T>A (p.Met289Lys) c.608T>A (p.Met203Lys) | |
| 22 | g.50626268T>A | CA412175096 | ARSA | c.865A>T (p.Met289Leu) c.607A>T (p.Met203Leu) | |
| 22 | g.50626268T>C | CA412175101 | ARSA | c.865A>G (p.Met289Val) c.607A>G (p.Met203Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626268T>G | CA412175106 | ARSA | c.865A>C (p.Met289Leu) c.607A>C (p.Met203Leu) | |
| 22 | g.50626268T= | CA2410958957 | ARSA | c.865A= (p.Met289=) c.607A= (p.Met203=) | |
| 22 | g.50626269G>A | CA515249007 | ARSA | c.864C>T (p.Thr288=) c.606C>T (p.Thr202=) | |
| 22 | g.50626269G>C | CA515249008 | ARSA | c.864C>G (p.Thr288=) c.606C>G (p.Thr202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626269G= | CA2410958958 | ARSA | c.864C= (p.Thr288=) c.606C= (p.Thr202=) | |
| 22 | g.50626269G>T | CA515249009 | ARSA | c.864C>A (p.Thr288=) c.606C>A (p.Thr202=) | |
| 22 | g.50626270G>A | CA412175111 | ARSA | c.863C>T (p.Thr288Ile) c.605C>T (p.Thr202Ile) | |
| 22 | g.50626270G>C | CA412175112 | ARSA | c.863C>G (p.Thr288Ser) c.605C>G (p.Thr202Ser) | |
| 22 | g.50626270G= | CA2410958959 | ARSA | c.863C= (p.Thr288=) c.605C= (p.Thr202=) | |
| 22 | g.50626270G>T | CA412175113 | ARSA | c.863C>A (p.Thr288Asn) c.605C>A (p.Thr202Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626271T>A | CA412175116 | ARSA | c.862A>T (p.Thr288Ser) c.604A>T (p.Thr202Ser) | |
| 22 | g.50626271T>C | CA412175117 | ARSA | c.862A>G (p.Thr288Ala) c.604A>G (p.Thr202Ala) | |
| 22 | g.50626271T>G | CA116005 | ARSA | c.862A>C (p.Thr288Pro) c.604A>C (p.Thr202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626271T= | CA2410958960 | ARSA | c.862A= (p.Thr288=) c.604A= (p.Thr202=) | |
| 22 | g.50626272C>A | CA412175143 | ARSA | c.861G>T (p.Glu287Asp) c.603G>T (p.Glu201Asp) | |
| 22 | g.50626272C>G | CA412175149 | ARSA | c.861G>C (p.Glu287Asp) c.603G>C (p.Glu201Asp) | gnomAD v4 |
| 22 | g.50626272C>T | CA515249010 | ARSA | c.861G>A (p.Glu287=) c.603G>A (p.Glu201=) | ClinVar dbSNP |
| 22 | g.50626273T>A | CA412175172 | ARSA | c.860A>T (p.Glu287Val) c.602A>T (p.Glu201Val) | |
| 22 | g.50626273T>C | CA412175167 | ARSA | c.860A>G (p.Glu287Gly) c.602A>G (p.Glu201Gly) | |
| 22 | g.50626273T>G | CA412175170 | ARSA | c.860A>C (p.Glu287Ala) c.602A>C (p.Glu201Ala) | |
| 22 | g.50626274C>A | CA412175176 | ARSA | c.859G>T (p.Glu287Ter) c.601G>T (p.Glu201Ter) | |
| 22 | g.50626274C= | CA2410958961 | ARSA | c.859G= (p.Glu287=) c.601G= (p.Glu201=) | |
| 22 | g.50626274C>G | CA412175186 | ARSA | c.859G>C (p.Glu287Gln) c.601G>C (p.Glu201Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626274C>T | CA412175189 | ARSA | c.859G>A (p.Glu287Lys) c.601G>A (p.Glu201Lys) | |
| 22 | g.50626275A= | CA2410958962 | ARSA | c.858T= (p.Pro286=) c.600T= (p.Pro200=) | |
| 22 | g.50626275A>C | CA515249012 | ARSA | c.858T>G (p.Pro286=) c.600T>G (p.Pro200=) | |
| 22 | g.50626275A>G | CA325531367 | ARSA | c.858T>C (p.Pro286=) c.600T>C (p.Pro200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626275A>T | CA515249011 | ARSA | c.858T>A (p.Pro286=) c.600T>A (p.Pro200=) | |
| 22 | g.50626276G>A | CA412175197 | ARSA | c.857C>T (p.Pro286Leu) c.599C>T (p.Pro200Leu) | |
| 22 | g.50626276G>C | CA412175199 | ARSA | c.857C>G (p.Pro286Arg) c.599C>G (p.Pro200Arg) | |
| 22 | g.50626276G>T | CA412175202 | ARSA | c.857C>A (p.Pro286His) c.599C>A (p.Pro200His) | |
| 22 | g.50626277G>A | CA412175211 | ARSA | c.856C>T (p.Pro286Ser) c.598C>T (p.Pro200Ser) | |
| 22 | g.50626277G>C | CA412175214 | ARSA | c.856C>G (p.Pro286Ala) c.598C>G (p.Pro200Ala) | |
| 22 | g.50626277G= | CA2410958963 | ARSA | c.856C= (p.Pro286=) c.598C= (p.Pro200=) | |
| 22 | g.50626277G>T | CA412175220 | ARSA | c.856C>A (p.Pro286Thr) c.598C>A (p.Pro200Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626278T>A | CA515249013 | ARSA | c.855A>T (p.Gly285=) c.597A>T (p.Gly199=) | |
| 22 | g.50626278T>C | CA515249014 | ARSA | c.855A>G (p.Gly285=) c.597A>G (p.Gly199=) | gnomAD v4 |
| 22 | g.50626278T>G | CA515249015 | ARSA | c.855A>C (p.Gly285=) c.597A>C (p.Gly199=) | gnomAD v4 |
| 22 | g.50626279C>A | CA412175235 | ARSA | c.855-1G>T (n.855-1G>T) c.597-1G>T (n.597-1G>T) | |
| 22 | g.50626279C= | CA2410958964 | ARSA | c.855-1G= (n.855-1G=) c.597-1G= (n.597-1G=) | |
| 22 | g.50626279C>G | CA412175240 | ARSA | c.855-1G>C (n.855-1G>C) c.597-1G>C (n.597-1G>C) | |
| 22 | g.50626279C>T | CA10324892 | ARSA | c.855-1G>A (n.855-1G>A) c.597-1G>A (n.597-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626280T>A | CA412175246 | ARSA | c.855-2A>T (n.855-2A>T) c.597-2A>T (n.597-2A>T) | |
| 22 | g.50626280T>C | CA412175253 | ARSA | c.855-2A>G (n.855-2A>G) c.597-2A>G (n.597-2A>G) | |
| 22 | g.50626280T>G | CA412175258 | ARSA | c.855-2A>C (n.855-2A>C) c.597-2A>C (n.597-2A>C) | |
| 22 | g.50626281G>A | CA640358668 | ARSA | c.855-3C>T (n.855-3C>T) c.597-3C>T (n.597-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626281G= | CA2410958965 | ARSA | c.855-3C= (n.855-3C=) c.597-3C= (n.597-3C=) | |
| 22 | g.50626281G>T | CA2657592620 | ARSA | c.855-3C>A (n.855-3C>A) c.597-3C>A (n.597-3C>A) | gnomAD v4 |
| 22 | g.50626282G>A | CA10324893 | ARSA | c.855-4C>T (n.855-4C>T) c.597-4C>T (n.597-4C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.50626282G= | CA2410958966 | ARSA | c.855-4C= (n.855-4C=) c.597-4C= (n.597-4C=) | |
| 22 | g.50626282G>T | CA2577767939 | ARSA | c.855-4C>A (n.855-4C>A) c.597-4C>A (n.597-4C>A) | gnomAD v4 |
| 22 | g.50626283G>A | CA10324894 | ARSA | c.855-5C>T (n.855-5C>T) c.597-5C>T (n.597-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626283G= | CA2410958967 | ARSA | c.855-5C= (n.855-5C=) c.597-5C= (n.597-5C=) | |
| 22 | g.50626283G>T | CA2410958968 | ARSA | c.855-5C>A (n.855-5C>A) c.597-5C>A (n.597-5C>A) | dbSNP gnomAD v4 |
| 22 | g.50626285C>T | CA2657592629 | ARSA | c.855-7G>A (n.855-7G>A) c.597-7G>A (n.597-7G>A) | gnomAD v4 |
| 22 | g.50626286A= | CA2410958969 | ARSA | c.855-8T= (n.855-8T=) c.597-8T= (n.597-8T=) | |
| 22 | g.50626286A>T | CA640358669 | ARSA | c.855-8T>A (n.855-8T>A) c.597-8T>A (n.597-8T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626287C>T | CA2657592633 | ARSA | c.855-9G>A (n.855-9G>A) c.597-9G>A (n.597-9G>A) | gnomAD v4 |
| 22 | g.50626288A>G | CA2657592634 | ARSA | c.855-10T>C (n.855-10T>C) c.597-10T>C (n.597-10T>C) | gnomAD v4 |
| 22 | g.50626289G>T | CA2657592635 | ARSA | c.855-11C>A (n.855-11C>A) c.597-11C>A (n.597-11C>A) | gnomAD v4 |
| 22 | g.50626290G>A | CA2740092003 | ARSA | c.855-12C>T (n.855-12C>T) c.597-12C>T (n.597-12C>T) | ClinVar |
| 22 | g.50626290G>T | CA2657592636 | ARSA | c.855-12C>A (n.855-12C>A) c.597-12C>A (n.597-12C>A) | ClinVar gnomAD v4 |
| 22 | g.50626291del | CA2657592637 | ARSA | c.855-13del (n.855-13del) c.597-13del (n.597-13del) | gnomAD v4 |
| 22 | g.50626291A= | CA2410958970 | ARSA | c.855-13T= (n.855-13T=) c.597-13T= (n.597-13T=) | |
| 22 | g.50626291A>T | CA10324895 | ARSA | c.855-13T>A (n.855-13T>A) c.597-13T>A (n.597-13T>A) | dbSNP ExAC |
| 22 | g.50626292G>C | CA2657592640 | ARSA | c.855-14C>G (n.855-14C>G) c.597-14C>G (n.597-14C>G) | gnomAD v4 |
| 22 | g.50626294C>A | CA2657592644 | ARSA | c.855-16G>T (n.855-16G>T) c.597-16G>T (n.597-16G>T) | dbSNP gnomAD v4 |
| 22 | g.50626294C= | CA2410958971 | ARSA | c.855-16G= (n.855-16G=) c.597-16G= (n.597-16G=) | |
| 22 | g.50626294C>G | CA2410958972 | ARSA | c.855-16G>C (n.855-16G>C) c.597-16G>C (n.597-16G>C) | dbSNP |
| 22 | g.50626294C>T | CA10324896 | ARSA | c.855-16G>A (n.855-16G>A) c.597-16G>A (n.597-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626295G>A | CA640358670 | ARSA | c.855-17C>T (n.855-17C>T) c.597-17C>T (n.597-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626295G= | CA2410958973 | ARSA | c.855-17C= (n.855-17C=) c.597-17C= (n.597-17C=) | |
| 22 | g.50626295G>T | CA2697552825 | ARSA | c.855-17C>A (n.855-17C>A) c.597-17C>A (n.597-17C>A) | ClinVar |
| 22 | g.50626296C= | CA2410958974 | ARSA | c.855-18G= (n.855-18G=) c.597-18G= (n.597-18G=) | |
| 22 | g.50626296C>T | CA1026680781 | ARSA | c.855-18G>A (n.855-18G>A) c.597-18G>A (n.597-18G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626297T>A | CA2410958976 | ARSA | c.855-19A>T (n.855-19A>T) c.597-19A>T (n.597-19A>T) | dbSNP |
| 22 | g.50626297T>C | CA325531372 | ARSA | c.855-19A>G (n.855-19A>G) c.597-19A>G (n.597-19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626297T= | CA2410958975 | ARSA | c.855-19A= (n.855-19A=) c.597-19A= (n.597-19A=) | |
| 22 | g.50626298C>A | CA2657592657 | ARSA | c.855-20G>T (n.855-20G>T) c.597-20G>T (n.597-20G>T) | gnomAD v4 |
| 22 | g.50626298C>T | CA2577767940 | ARSA | c.855-20G>A (n.855-20G>A) c.597-20G>A (n.597-20G>A) | gnomAD v4 |
| 22 | g.50626298dup | CA754069006 | ARSA | c.855-20dup (n.855-20dup) c.597-20dup (n.597-20dup) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626300T>G | CA2577767941 | ARSA | c.855-22A>C (n.855-22A>C) c.597-22A>C (n.597-22A>C) | gnomAD v4 |
| 22 | g.50626301G>A | CA2410958978 | ARSA | c.855-23C>T (n.855-23C>T) c.597-23C>T (n.597-23C>T) | dbSNP gnomAD v4 |
| 22 | g.50626301G>C | CA2531660361 | ARSA | c.855-23C>G (n.855-23C>G) c.597-23C>G (n.597-23C>G) | |
| 22 | g.50626301G= | CA2410958977 | ARSA | c.855-23C= (n.855-23C=) c.597-23C= (n.597-23C=) | |
| 22 | g.50626301G>T | CA2657592661 | ARSA | c.855-23C>A (n.855-23C>A) c.597-23C>A (n.597-23C>A) | gnomAD v4 |
| 22 | g.50626302del | CA2657592664 | ARSA | c.855-24del (n.855-24del) c.597-24del (n.597-24del) | gnomAD v4 |
| 22 | g.50626302A= | CA2410958979 | ARSA | c.855-24T= (n.855-24T=) c.597-24T= (n.597-24T=) | |
| 22 | g.50626302A>G | CA325531374 | ARSA | c.855-24T>C (n.855-24T>C) c.597-24T>C (n.597-24T>C) | dbSNP |
| 22 | g.50626303G>A | CA2657592667 | ARSA | c.855-25C>T (n.855-25C>T) c.597-25C>T (n.597-25C>T) | gnomAD v4 |
| 22 | g.50626303G>C | CA325531376 | ARSA | c.855-25C>G (n.855-25C>G) c.597-25C>G (n.597-25C>G) | dbSNP |
| 22 | g.50626303G= | CA2410958980 | ARSA | c.855-25C= (n.855-25C=) c.597-25C= (n.597-25C=) | |
| 22 | g.50626303G>T | CA2657592668 | ARSA | c.855-25C>A (n.855-25C>A) c.597-25C>A (n.597-25C>A) | gnomAD v4 |
| 22 | g.50626304C>A | CA2657592670 | ARSA | c.855-26G>T (n.855-26G>T) c.597-26G>T (n.597-26G>T) | gnomAD v4 |
| 22 | g.50626304C= | CA2410958981 | ARSA | c.855-26G= (n.855-26G=) c.597-26G= (n.597-26G=) | |
| 22 | g.50626304C>T | CA325531377 | ARSA | c.855-26G>A (n.855-26G>A) c.597-26G>A (n.597-26G>A) | dbSNP |
| 22 | g.50626304_50626305insT | CA2657592672 | ARSA | c.855-27_855-26insA (n.855-27_855-26insA) c.597-27_597-26insA (n.597-27_597-26insA) | gnomAD v4 |
| 22 | g.50626305C>A | CA2577767942 | ARSA | c.855-27G>T (n.855-27G>T) c.597-27G>T (n.597-27G>T) | |
| 22 | g.50626305C>T | CA2657592673 | ARSA | c.855-27G>A (n.855-27G>A) c.597-27G>A (n.597-27G>A) | gnomAD v4 |
| 22 | g.50626306A= | CA2410958982 | ARSA | c.855-28T= (n.855-28T=) c.597-28T= (n.597-28T=) | |
| 22 | g.50626306A>G | CA325531379 | ARSA | c.855-28T>C (n.855-28T>C) c.597-28T>C (n.597-28T>C) | dbSNP gnomAD v4 |
| 22 | g.50626306A>T | CA2657592677 | ARSA | c.855-28T>A (n.855-28T>A) c.597-28T>A (n.597-28T>A) | gnomAD v4 |
| 22 | g.50626307T>C | CA2577767943 | ARSA | c.855-29A>G (n.855-29A>G) c.597-29A>G (n.597-29A>G) | |
| 22 | g.50626307_50626308delinsTG | CA2410958983 | ARSA | c.855-30_855-29delinsCA (n.855-30_855-29delinsCA) c.597-30_597-29delinsCA (n.597-30_597-29delinsCA) | |
| 22 | g.50626308G>A | CA640358671 | ARSA | c.855-30C>T (n.855-30C>T) c.597-30C>T (n.597-30C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626308G= | CA2410958984 | ARSA | c.855-30C= (n.855-30C=) c.597-30C= (n.597-30C=) | |
| 22 | g.50626308G>T | CA2657592686 | ARSA | c.855-30C>A (n.855-30C>A) c.597-30C>A (n.597-30C>A) | gnomAD v4 |
| 22 | g.50626309del | CA754069010 | ARSA | c.855-30del (n.855-30del) c.597-30del (n.597-30del) | dbSNP gnomAD v4 |
| 22 | g.50626309G>A | CA2657592689 | ARSA | c.855-31C>T (n.855-31C>T) c.597-31C>T (n.597-31C>T) | gnomAD v4 |
| 22 | g.50626309G>T | CA2657592691 | ARSA | c.855-31C>A (n.855-31C>A) c.597-31C>A (n.597-31C>A) | gnomAD v4 |
| 22 | g.50626311G>A | CA2657592693 | ARSA | c.855-33C>T (n.855-33C>T) c.597-33C>T (n.597-33C>T) | gnomAD v4 |
| 22 | g.50626311G>T | CA2657592694 | ARSA | c.855-33C>A (n.855-33C>A) c.597-33C>A (n.597-33C>A) | gnomAD v4 |
| 22 | g.50626312C= | CA2410958985 | ARSA | c.855-34G= (n.855-34G=) c.597-34G= (n.597-34G=) | |
| 22 | g.50626312C>G | CA640358672 | ARSA | c.855-34G>C (n.855-34G>C) c.597-34G>C (n.597-34G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626312C>T | CA2657592696 | ARSA | c.855-34G>A (n.855-34G>A) c.597-34G>A (n.597-34G>A) | gnomAD v4 |
| 22 | g.50626313C= | CA2410958986 | ARSA | c.855-35G= (n.855-35G=) c.597-35G= (n.597-35G=) | |
| 22 | g.50626313C>T | CA325531381 | ARSA | c.855-35G>A (n.855-35G>A) c.597-35G>A (n.597-35G>A) | dbSNP |
| 22 | g.50626314A>C | CA2657592700 | ARSA | c.855-36T>G (n.855-36T>G) c.597-36T>G (n.597-36T>G) | gnomAD v4 |
| 22 | g.50626314A>G | CA2577767944 | ARSA | c.855-36T>C (n.855-36T>C) c.597-36T>C (n.597-36T>C) | |
| 22 | g.50626315C>T | CA2657592701 | ARSA | c.855-37G>A (n.855-37G>A) c.597-37G>A (n.597-37G>A) | gnomAD v4 |
| 22 | g.50626318C>A | CA2410958987 | ARSA | c.855-40G>T (n.855-40G>T) c.597-40G>T (n.597-40G>T) | dbSNP |
| 22 | g.50626318C= | CA2410958988 | ARSA | c.855-40G= (n.855-40G=) c.597-40G= (n.597-40G=) | |
| 22 | g.50626319C>A | CA2657592702 | ARSA | c.855-41G>T (n.855-41G>T) c.597-41G>T (n.597-41G>T) | gnomAD v4 |
| 22 | g.50626321C= | CA2410958989 | ARSA | c.855-43G= (n.855-43G=) c.597-43G= (n.597-43G=) | |
| 22 | g.50626321C>T | CA325531382 | ARSA | c.855-43G>A (n.855-43G>A) c.597-43G>A (n.597-43G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626322T>C | CA754069016 | ARSA | c.855-44A>G (n.855-44A>G) c.597-44A>G (n.597-44A>G) | dbSNP gnomAD v4 |
| 22 | g.50626322T= | CA2410958990 | ARSA | c.855-44A= (n.855-44A=) c.597-44A= (n.597-44A=) | |
| 22 | g.50626323G>C | CA754069019 | ARSA | c.855-45C>G (n.855-45C>G) c.597-45C>G (n.597-45C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626323G= | CA2410958991 | ARSA | c.855-45C= (n.855-45C=) c.597-45C= (n.597-45C=) | |
| 22 | g.50626325G>A | CA2657592709 | ARSA | c.855-47C>T (n.855-47C>T) c.597-47C>T (n.597-47C>T) | gnomAD v4 |
| 22 | g.50626326C>A | CA640358673 | ARSA | c.855-48G>T (n.855-48G>T) c.597-48G>T (n.597-48G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626326C= | CA2410958992 | ARSA | c.855-48G= (n.855-48G=) c.597-48G= (n.597-48G=) | |
| 22 | g.50626326C>G | CA2657592712 | ARSA | c.855-48G>C (n.855-48G>C) c.597-48G>C (n.597-48G>C) | gnomAD v4 |
| 22 | g.50626326C>T | CA2657592714 | ARSA | c.855-48G>A (n.855-48G>A) c.597-48G>A (n.597-48G>A) | gnomAD v4 |
| 22 | g.50626327C>A | CA2577767945 | ARSA | c.855-49G>T (n.855-49G>T) c.597-49G>T (n.597-49G>T) | |
| 22 | g.50626327C= | CA2410958993 | ARSA | c.855-49G= (n.855-49G=) c.597-49G= (n.597-49G=) | |
| 22 | g.50626327C>T | CA2410958994 | ARSA | c.855-49G>A (n.855-49G>A) c.597-49G>A (n.597-49G>A) | dbSNP gnomAD v4 |