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 |
|---|---|---|---|---|---|
| 20 | g.18526510A>C | CA509826837 | SEC23B | c.972A>C (p.Arg324=) c.918A>C (p.Arg306=) | |
| 20 | g.18526510A>G | CA509826840 | SEC23B | c.972A>G (p.Arg324=) c.918A>G (p.Arg306=) | |
| 20 | g.18526510A>T | CA509826842 | SEC23B | c.972A>T (p.Arg324=) c.918A>T (p.Arg306=) | |
| 20 | g.18526511T>A | CA408360312 | SEC23B | c.973T>A (p.Phe325Ile) c.919T>A (p.Phe307Ile) | |
| 20 | g.18526511T>C | CA9778174 | SEC23B | c.973T>C (p.Phe325Leu) c.919T>C (p.Phe307Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526511T>G | CA408360313 | SEC23B | c.973T>G (p.Phe325Val) c.919T>G (p.Phe307Val) | |
| 20 | g.18526511T= | CA2353557164 | SEC23B | c.973T= (p.Phe325=) c.919T= (p.Phe307=) | |
| 20 | g.18526512T>A | CA408360314 | SEC23B | c.974T>A (p.Phe325Tyr) c.920T>A (p.Phe307Tyr) | |
| 20 | g.18526512T>C | CA408360315 | SEC23B | c.974T>C (p.Phe325Ser) c.920T>C (p.Phe307Ser) | |
| 20 | g.18526512T>G | CA408360316 | SEC23B | c.974T>G (p.Phe325Cys) c.920T>G (p.Phe307Cys) | |
| 20 | g.18526513C>A | CA408360317 | SEC23B | c.975C>A (p.Phe325Leu) c.921C>A (p.Phe307Leu) | gnomAD v4 |
| 20 | g.18526513C>G | CA408360318 | SEC23B | c.975C>G (p.Phe325Leu) c.921C>G (p.Phe307Leu) | |
| 20 | g.18526513C>T | CA509826851 | SEC23B | c.975C>T (p.Phe325=) c.921C>T (p.Phe307=) | |
| 20 | g.18526514A= | CA2353557165 | SEC23B | c.976A= (p.Met326=) c.922A= (p.Met308=) | |
| 20 | g.18526514A>C | CA408360321 | SEC23B | c.976A>C (p.Met326Leu) c.922A>C (p.Met308Leu) | |
| 20 | g.18526514A>G | CA408360319 | SEC23B | c.976A>G (p.Met326Val) c.922A>G (p.Met308Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526514A>T | CA408360320 | SEC23B | c.976A>T (p.Met326Leu) c.922A>T (p.Met308Leu) | |
| 20 | g.18526515T>A | CA408360322 | SEC23B | c.977T>A (p.Met326Lys) c.923T>A (p.Met308Lys) | |
| 20 | g.18526515T>C | CA408360323 | SEC23B | c.977T>C (p.Met326Thr) c.923T>C (p.Met308Thr) | |
| 20 | g.18526515T>G | CA408360324 | SEC23B | c.977T>G (p.Met326Arg) c.923T>G (p.Met308Arg) | |
| 20 | g.18526516G>A | CA408360325 | SEC23B | c.978G>A (p.Met326Ile) c.924G>A (p.Met308Ile) | |
| 20 | g.18526516G>C | CA408360326 | SEC23B | c.978G>C (p.Met326Ile) c.924G>C (p.Met308Ile) | |
| 20 | g.18526516G>T | CA408360327 | SEC23B | c.978G>T (p.Met326Ile) c.924G>T (p.Met308Ile) | |
| 20 | g.18526517A>C | CA408360328 | SEC23B | c.979A>C (p.Lys327Gln) c.925A>C (p.Lys309Gln) | |
| 20 | g.18526517A>G | CA408360329 | SEC23B | c.979A>G (p.Lys327Glu) c.925A>G (p.Lys309Glu) | |
| 20 | g.18526517A>T | CA408360330 | SEC23B | c.979A>T (p.Lys327Ter) c.925A>T (p.Lys309Ter) | |
| 20 | g.18526521dup | CA2740097034 | SEC23B | c.983dup (p.Ala329GlyfsTer6) c.983dup (p.Ala329GlyfsTer?) c.929dup (p.Ala311GlyfsTer6) | ClinVar |
| 20 | g.18526518A= | CA2353557166 | SEC23B | c.980A= (p.Lys327=) c.926A= (p.Lys309=) | |
| 20 | g.18526518A>C | CA408360331 | SEC23B | c.980A>C (p.Lys327Thr) c.926A>C (p.Lys309Thr) | |
| 20 | g.18526518A>G | CA9778175 | SEC23B | c.980A>G (p.Lys327Arg) c.926A>G (p.Lys309Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526518A>T | CA408360332 | SEC23B | c.980A>T (p.Lys327Ile) c.926A>T (p.Lys309Ile) | |
| 20 | g.18526519A= | CA2353557167 | SEC23B | c.981A= (p.Lys327=) c.927A= (p.Lys309=) | |
| 20 | g.18526519A>C | CA408360333 | SEC23B | c.981A>C (p.Lys327Asn) c.927A>C (p.Lys309Asn) | |
| 20 | g.18526519A>G | CA509826879 | SEC23B | c.981A>G (p.Lys327=) c.927A>G (p.Lys309=) | |
| 20 | g.18526519A>T | CA408360334 | SEC23B | c.981A>T (p.Lys327Asn) c.927A>T (p.Lys309Asn) | |
| 20 | g.18526519_18526520insTCGTGCATTCATG | CA2353557168 | SEC23B | c.981_982insTCGTGCATTCATG (p.Lys328SerfsTer11) c.981_982insTCGTGCATTCATG (p.Lys328SerfsTer?) c.927_928insTCGTGCATTCATG (p.Lys310SerfsTer11) | dbSNP |
| 20 | g.18526520A>C | CA408360335 | SEC23B | c.982A>C (p.Lys328Gln) c.928A>C (p.Lys310Gln) | |
| 20 | g.18526520A>G | CA408360336 | SEC23B | c.982A>G (p.Lys328Glu) c.928A>G (p.Lys310Glu) | |
| 20 | g.18526520A>T | CA408360337 | SEC23B | c.982A>T (p.Lys328Ter) c.928A>T (p.Lys310Ter) | |
| 20 | g.18526521A= | CA2353557169 | SEC23B | c.983A= (p.Lys328=) c.929A= (p.Lys310=) | |
| 20 | g.18526521A>C | CA408360338 | SEC23B | c.983A>C (p.Lys328Thr) c.929A>C (p.Lys310Thr) | |
| 20 | g.18526521A>G | CA408360339 | SEC23B | c.983A>G (p.Lys328Arg) c.929A>G (p.Lys310Arg) | gnomAD v4 |
| 20 | g.18526521A>T | CA408360340 | SEC23B | c.983A>T (p.Lys328Met) c.929A>T (p.Lys310Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526522G>A | CA509826897 | SEC23B | c.984G>A (p.Lys328=) c.930G>A (p.Lys310=) | dbSNP |
| 20 | g.18526522G>C | CA408360342 | SEC23B | c.984G>C (p.Lys328Asn) c.930G>C (p.Lys310Asn) | |
| 20 | g.18526522G= | CA2353557170 | SEC23B | c.984G= (p.Lys328=) c.930G= (p.Lys310=) | |
| 20 | g.18526522G>T | CA408360341 | SEC23B | c.984G>T (p.Lys328Asn) c.930G>T (p.Lys310Asn) | |
| 20 | g.18526523G>A | CA408360343 | SEC23B | c.985G>A (p.Ala329Thr) c.931G>A (p.Ala311Thr) | gnomAD v4 |
| 20 | g.18526523G>C | CA9778177 | SEC23B | c.985G>C (p.Ala329Pro) c.931G>C (p.Ala311Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526523G= | CA2353557171 | SEC23B | c.985G= (p.Ala329=) c.931G= (p.Ala311=) | |
| 20 | g.18526523G>T | CA9778176 | SEC23B | c.985G>T (p.Ala329Ser) c.931G>T (p.Ala311Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526524C>A | CA408360344 | SEC23B | c.986C>A (p.Ala329Glu) c.932C>A (p.Ala311Glu) | |
| 20 | g.18526524C= | CA2353557172 | SEC23B | c.986C= (p.Ala329=) c.932C= (p.Ala311=) | |
| 20 | g.18526524C>G | CA408360345 | SEC23B | c.986C>G (p.Ala329Gly) c.932C>G (p.Ala311Gly) | |
| 20 | g.18526524C>T | CA408360346 | SEC23B | c.986C>T (p.Ala329Val) c.932C>T (p.Ala311Val) | |
| 20 | g.18526525A>C | CA509826904 | SEC23B | c.987A>C (p.Ala329=) c.933A>C (p.Ala311=) | |
| 20 | g.18526525A>G | CA509826908 | SEC23B | c.987A>G (p.Ala329=) c.933A>G (p.Ala311=) | |
| 20 | g.18526525A>T | CA509826912 | SEC23B | c.987A>T (p.Ala329=) c.933A>T (p.Ala311=) | |
| 20 | g.18526525_18526526insTA | CA2353557173 | SEC23B | c.987_988insTA (p.Thr330Ter) c.933_934insTA (p.Thr312Ter) | dbSNP |
| 20 | g.18526526A= | CA2353557174 | SEC23B | c.988A= (p.Thr330=) c.934A= (p.Thr312=) | |
| 20 | g.18526526A>C | CA408360347 | SEC23B | c.988A>C (p.Thr330Pro) c.934A>C (p.Thr312Pro) | dbSNP |
| 20 | g.18526526A>G | CA408360349 | SEC23B | c.988A>G (p.Thr330Ala) c.934A>G (p.Thr312Ala) | gnomAD v4 |
| 20 | g.18526526A>T | CA408360348 | SEC23B | c.988A>T (p.Thr330Ser) c.934A>T (p.Thr312Ser) | |
| 20 | g.18526527C>A | CA408360350 | SEC23B | c.989C>A (p.Thr330Asn) c.935C>A (p.Thr312Asn) | |
| 20 | g.18526527C= | CA2353557175 | SEC23B | c.989C= (p.Thr330=) c.935C= (p.Thr312=) | |
| 20 | g.18526527C>G | CA408360351 | SEC23B | c.989C>G (p.Thr330Ser) c.935C>G (p.Thr312Ser) | |
| 20 | g.18526527C>T | CA9778178 | SEC23B | c.989C>T (p.Thr330Ile) c.935C>T (p.Thr312Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526528C>A | CA9778180 | SEC23B | c.990C>A (p.Thr330=) c.936C>A (p.Thr312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526528C= | CA2353557176 | SEC23B | c.990C= (p.Thr330=) c.936C= (p.Thr312=) | |
| 20 | g.18526528C>G | CA509826929 | SEC23B | c.990C>G (p.Thr330=) c.936C>G (p.Thr312=) | |
| 20 | g.18526528C>T | CA9778179 | SEC23B | c.990C>T (p.Thr330=) c.936C>T (p.Thr312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526529A= | CA2353557177 | SEC23B | c.991A= (p.Lys331=) c.937A= (p.Lys313=) | |
| 20 | g.18526529A>C | CA9778181 | SEC23B | c.991A>C (p.Lys331Gln) c.937A>C (p.Lys313Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526529A>G | CA408360352 | SEC23B | c.991A>G (p.Lys331Glu) c.937A>G (p.Lys313Glu) | |
| 20 | g.18526529A>T | CA408360353 | SEC23B | c.991A>T (p.Lys331Ter) c.937A>T (p.Lys313Ter) | |
| 20 | g.18526530A>C | CA408360354 | SEC23B | c.992A>C (p.Lys331Thr) c.938A>C (p.Lys313Thr) | |
| 20 | g.18526530A>G | CA408360355 | SEC23B | c.992A>G (p.Lys331Arg) c.938A>G (p.Lys313Arg) | |
| 20 | g.18526530A>T | CA408360356 | SEC23B | c.992A>T (p.Lys331Met) c.938A>T (p.Lys313Met) | |
| 20 | g.18526531G>A | CA509826942 | SEC23B | c.993G>A (p.Lys331=) c.939G>A (p.Lys313=) | |
| 20 | g.18526531G>C | CA408360357 | SEC23B | c.993G>C (p.Lys331Asn) c.939G>C (p.Lys313Asn) | |
| 20 | g.18526531G>T | CA408360358 | SEC23B | c.993G>T (p.Lys331Asn) c.939G>T (p.Lys313Asn) | |
| 20 | g.18526532G>A | CA408360359 | SEC23B | c.993+1G>A (n.993+1G>A) c.939+1G>A (n.939+1G>A) | gnomAD v4 |
| 20 | g.18526532G>C | CA408360361 | SEC23B | c.993+1G>C (n.993+1G>C) c.939+1G>C (n.939+1G>C) | |
| 20 | g.18526532G>T | CA408360360 | SEC23B | c.993+1G>T (n.993+1G>T) c.939+1G>T (n.939+1G>T) | |
| 20 | g.18526533T>A | CA408360362 | SEC23B | c.993+2T>A (n.993+2T>A) c.939+2T>A (n.939+2T>A) | |
| 20 | g.18526533T>C | CA408360364 | SEC23B | c.993+2T>C (n.993+2T>C) c.939+2T>C (n.939+2T>C) | |
| 20 | g.18526533T>G | CA408360363 | SEC23B | c.993+2T>G (n.993+2T>G) c.939+2T>G (n.939+2T>G) | |
| 20 | g.18526536G>A | CA2652042655 | SEC23B | c.993+5G>A (n.993+5G>A) c.939+5G>A (n.939+5G>A) | gnomAD v4 |
| 20 | g.18526538G>A | CA9778182 | SEC23B | c.993+7G>A (n.993+7G>A) c.939+7G>A (n.939+7G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.18526538G= | CA2353557178 | SEC23B | c.993+7G= (n.993+7G=) c.939+7G= (n.939+7G=) | |
| 20 | g.18526538G>T | CA2695229329 | SEC23B | c.993+7G>T (n.993+7G>T) c.939+7G>T (n.939+7G>T) | |
| 20 | g.18526539C= | CA2353557179 | SEC23B | c.993+8C= (n.993+8C=) c.939+8C= (n.939+8C=) | |
| 20 | g.18526539C>G | CA9778183 | SEC23B | c.993+8C>G (n.993+8C>G) c.939+8C>G (n.939+8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526539C>T | CA2652042656 | SEC23B | c.993+8C>T (n.993+8C>T) c.939+8C>T (n.939+8C>T) | ClinVar gnomAD v4 |
| 20 | g.18526541C= | CA2353557180 | SEC23B | c.993+10C= (n.993+10C=) c.939+10C= (n.939+10C=) | |
| 20 | g.18526541C>G | CA9778184 | SEC23B | c.993+10C>G (n.993+10C>G) c.939+10C>G (n.939+10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526542T>C | CA1015922528 | SEC23B | c.993+11T>C (n.993+11T>C) c.939+11T>C (n.939+11T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526542T= | CA2353557181 | SEC23B | c.993+11T= (n.993+11T=) c.939+11T= (n.939+11T=) | |
| 20 | g.18526544G>C | CA9778185 | SEC23B | c.993+13G>C (n.993+13G>C) c.939+13G>C (n.939+13G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526544G= | CA2353557182 | SEC23B | c.993+13G= (n.993+13G=) c.939+13G= (n.939+13G=) | |
| 20 | g.18526545G>A | CA2353557184 | SEC23B | c.993+14G>A (n.993+14G>A) c.939+14G>A (n.939+14G>A) | ClinVar dbSNP gnomAD v4 |
| 20 | g.18526545G= | CA2353557183 | SEC23B | c.993+14G= (n.993+14G=) c.939+14G= (n.939+14G=) | |
| 20 | g.18526546G>A | CA9778186 | SEC23B | c.993+15G>A (n.993+15G>A) c.939+15G>A (n.939+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526546G>C | CA9778187 | SEC23B | c.993+15G>C (n.993+15G>C) c.939+15G>C (n.939+15G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526546G= | CA2353557185 | SEC23B | c.993+15G= (n.993+15G=) c.939+15G= (n.939+15G=) | |
| 20 | g.18526548A= | CA2353557186 | SEC23B | c.993+17A= (n.993+17A=) c.939+17A= (n.939+17A=) | |
| 20 | g.18526548A>G | CA2353557187 | SEC23B | c.993+17A>G (n.993+17A>G) c.939+17A>G (n.939+17A>G) | dbSNP |
| 20 | g.18526550G>A | CA9778188 | SEC23B | c.993+19G>A (n.993+19G>A) c.939+19G>A (n.939+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526550G>C | CA2580626675 | SEC23B | c.993+19G>C (n.993+19G>C) c.939+19G>C (n.939+19G>C) | |
| 20 | g.18526550G= | CA2353557188 | SEC23B | c.993+19G= (n.993+19G=) c.939+19G= (n.939+19G=) | |
| 20 | g.18526550G>T | CA2580626676 | SEC23B | c.993+19G>T (n.993+19G>T) c.939+19G>T (n.939+19G>T) | |
| 20 | g.18526552G>A | CA2652042657 | SEC23B | c.993+21G>A (n.993+21G>A) c.939+21G>A (n.939+21G>A) | gnomAD v4 |
| 20 | g.18526552G>C | CA9778189 | SEC23B | c.993+21G>C (n.993+21G>C) c.939+21G>C (n.939+21G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526552G= | CA2353557189 | SEC23B | c.993+21G= (n.993+21G=) c.939+21G= (n.939+21G=) | |
| 20 | g.18526552G>T | CA312396360 | SEC23B | c.993+21G>T (n.993+21G>T) c.939+21G>T (n.939+21G>T) | dbSNP gnomAD v4 |
| 20 | g.18526553del | CA2652042658 | SEC23B | c.993+22del (n.993+22del) c.939+22del (n.939+22del) | gnomAD v4 |
| 20 | g.18526554T>C | CA2652042659 | SEC23B | c.993+23T>C (n.993+23T>C) c.939+23T>C (n.939+23T>C) | gnomAD v4 |
| 20 | g.18526555G>A | CA9778190 | SEC23B | c.993+24G>A (n.993+24G>A) c.939+24G>A (n.939+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526555G= | CA2353557190 | SEC23B | c.993+24G= (n.993+24G=) c.939+24G= (n.939+24G=) | |
| 20 | g.18526556T>A | CA9778191 | SEC23B | c.993+25T>A (n.993+25T>A) c.939+25T>A (n.939+25T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526556T= | CA2353557191 | SEC23B | c.993+25T= (n.993+25T=) c.939+25T= (n.939+25T=) | |
| 20 | g.18526561C>A | CA2508372071 | SEC23B | c.993+30C>A (n.993+30C>A) c.939+30C>A (n.939+30C>A) | |
| 20 | g.18526561C= | CA2353557192 | SEC23B | c.993+30C= (n.993+30C=) c.939+30C= (n.939+30C=) | |
| 20 | g.18526561C>G | CA2652042660 | SEC23B | c.993+30C>G (n.993+30C>G) c.939+30C>G (n.939+30C>G) | gnomAD v4 |
| 20 | g.18526561C>T | CA741791794 | SEC23B | c.993+30C>T (n.993+30C>T) c.939+30C>T (n.939+30C>T) | dbSNP |
| 20 | g.18526567G= | CA2353557193 | SEC23B | c.993+36G= (n.993+36G=) c.939+36G= (n.939+36G=) | |
| 20 | g.18526567G>T | CA509826959 | SEC23B | c.993+36G>T (n.993+36G>T) c.939+36G>T (n.939+36G>T) | dbSNP gnomAD v4 |
| 20 | g.18526571A= | CA2353557194 | SEC23B | c.993+40A= (n.993+40A=) c.939+40A= (n.939+40A=) | |
| 20 | g.18526571A>G | CA9778192 | SEC23B | c.993+40A>G (n.993+40A>G) c.939+40A>G (n.939+40A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526574G>A | CA2652042661 | SEC23B | c.993+43G>A (n.993+43G>A) c.939+43G>A (n.939+43G>A) | gnomAD v4 |
| 20 | g.18526574G>C | CA2577347479 | SEC23B | c.993+43G>C (n.993+43G>C) c.939+43G>C (n.939+43G>C) | |
| 20 | g.18526576C>A | CA741791798 | SEC23B | c.993+45C>A (n.993+45C>A) c.939+45C>A (n.939+45C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526576C= | CA2353557195 | SEC23B | c.993+45C= (n.993+45C=) c.939+45C= (n.939+45C=) | |
| 20 | g.18526576C>T | CA312396368 | SEC23B | c.993+45C>T (n.993+45C>T) c.939+45C>T (n.939+45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526578G>A | CA312396371 | SEC23B | c.993+47G>A (n.993+47G>A) c.939+47G>A (n.939+47G>A) | dbSNP |
| 20 | g.18526578G= | CA2353557196 | SEC23B | c.993+47G= (n.993+47G=) c.939+47G= (n.939+47G=) | |
| 20 | g.18526582T>A | CA2652042662 | SEC23B | c.993+51T>A (n.993+51T>A) c.939+51T>A (n.939+51T>A) | gnomAD v4 |
| 20 | g.18526583G>C | CA741791802 | SEC23B | c.993+52G>C (n.993+52G>C) c.939+52G>C (n.939+52G>C) | dbSNP gnomAD v4 |
| 20 | g.18526583G= | CA2353557197 | SEC23B | c.993+52G= (n.993+52G=) c.939+52G= (n.939+52G=) | |
| 20 | g.18526583G>T | CA2652042663 | SEC23B | c.993+52G>T (n.993+52G>T) c.939+52G>T (n.939+52G>T) | gnomAD v4 |
| 20 | g.18526584G>A | CA2652042664 | SEC23B | c.993+53G>A (n.993+53G>A) c.939+53G>A (n.939+53G>A) | gnomAD v4 |
| 20 | g.18526585G>A | CA2353557199 | SEC23B | c.993+54G>A (n.993+54G>A) c.939+54G>A (n.939+54G>A) | dbSNP gnomAD v4 |
| 20 | g.18526585G= | CA2353557198 | SEC23B | c.993+54G= (n.993+54G=) c.939+54G= (n.939+54G=) | |
| 20 | g.18526586C>A | CA2652042667 | SEC23B | c.993+55C>A (n.993+55C>A) c.939+55C>A (n.939+55C>A) | gnomAD v4 |
| 20 | g.18526586C>G | CA2652042665 | SEC23B | c.993+55C>G (n.993+55C>G) c.939+55C>G (n.939+55C>G) | gnomAD v4 |
| 20 | g.18526586C>T | CA2652042666 | SEC23B | c.993+55C>T (n.993+55C>T) c.939+55C>T (n.939+55C>T) | gnomAD v4 |
| 20 | g.18526587T>C | CA1015922542 | SEC23B | c.993+56T>C (n.993+56T>C) c.939+56T>C (n.939+56T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526587T>G | CA2652042668 | SEC23B | c.993+56T>G (n.993+56T>G) c.939+56T>G (n.939+56T>G) | gnomAD v4 |
| 20 | g.18526587T= | CA2353557200 | SEC23B | c.993+56T= (n.993+56T=) c.939+56T= (n.939+56T=) | |
| 20 | g.18526588G>A | CA2652042669 | SEC23B | c.993+57G>A (n.993+57G>A) c.939+57G>A (n.939+57G>A) | gnomAD v4 |
| 20 | g.18526589C>A | CA2652042670 | SEC23B | c.993+58C>A (n.993+58C>A) c.939+58C>A (n.939+58C>A) | gnomAD v4 |
| 20 | g.18526592T>C | CA2652042671 | SEC23B | c.993+61T>C (n.993+61T>C) c.939+61T>C (n.939+61T>C) | gnomAD v4 |
| 20 | g.18526593G>A | CA2577347480 | SEC23B | c.993+62G>A (n.993+62G>A) c.939+62G>A (n.939+62G>A) | |
| 20 | g.18526595_18526596del | CA2652042672 | SEC23B | c.993+64_993+65del (n.993+64_993+65del) c.939+64_939+65del (n.939+64_939+65del) | gnomAD v4 |
| 20 | g.18526599A= | CA2353557201 | SEC23B | c.993+68A= (n.993+68A=) c.939+68A= (n.939+68A=) | |
| 20 | g.18526599A>G | CA635265087 | SEC23B | c.993+68A>G (n.993+68A>G) c.939+68A>G (n.939+68A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526600C= | CA2353557202 | SEC23B | c.993+69C= (n.993+69C=) c.939+69C= (n.939+69C=) | |
| 20 | g.18526600C>T | CA2353557203 | SEC23B | c.993+69C>T (n.993+69C>T) c.939+69C>T (n.939+69C>T) | dbSNP gnomAD v4 |
| 20 | g.18526602G>T | CA2652042673 | SEC23B | c.993+71G>T (n.993+71G>T) c.939+71G>T (n.939+71G>T) | gnomAD v4 |
| 20 | g.18526603C>A | CA2577347481 | SEC23B | c.993+72C>A (n.993+72C>A) c.939+72C>A (n.939+72C>A) | |
| 20 | g.18526604T>G | CA741791806 | SEC23B | c.993+73T>G (n.993+73T>G) c.939+73T>G (n.939+73T>G) | dbSNP |
| 20 | g.18526604T= | CA2353557204 | SEC23B | c.993+73T= (n.993+73T=) c.939+73T= (n.939+73T=) | |
| 20 | g.18526605A= | CA2353557205 | SEC23B | c.993+74A= (n.993+74A=) c.939+74A= (n.939+74A=) | |
| 20 | g.18526605A>G | CA312396374 | SEC23B | c.993+74A>G (n.993+74A>G) c.939+74A>G (n.939+74A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526606C>A | CA2577347482 | SEC23B | c.993+75C>A (n.993+75C>A) c.939+75C>A (n.939+75C>A) | gnomAD v4 |
| 20 | g.18526606C= | CA2353557206 | SEC23B | c.993+75C= (n.993+75C=) c.939+75C= (n.939+75C=) | |
| 20 | g.18526606C>T | CA741791824 | SEC23B | c.993+75C>T (n.993+75C>T) c.939+75C>T (n.939+75C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526610G>A | CA2577347483 | SEC23B | c.993+79G>A (n.993+79G>A) c.939+79G>A (n.939+79G>A) | |
| 20 | g.18526610G>T | CA2652042674 | SEC23B | c.993+79G>T (n.993+79G>T) c.939+79G>T (n.939+79G>T) | gnomAD v4 |