Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626085_50626088del | CA2657592278 | ARSA | c.980-21_980-18del (n.980-21_980-18del) c.722-21_722-18del (n.722-21_722-18del) | gnomAD v4 |
22 | g.50626088A>G | CA2657592289 | ARSA | c.980-25T>C (n.980-25T>C) c.722-25T>C (n.722-25T>C) | gnomAD v4 |
22 | g.50626091C>A | CA2410958836 | ARSA | c.980-28G>T (n.980-28G>T) c.722-28G>T (n.722-28G>T) | dbSNP gnomAD v4 |
22 | g.50626091C= | CA2410958835 | ARSA | c.980-28G= (n.980-28G=) c.722-28G= (n.722-28G=) | |
22 | g.50626091C>G | CA2410958837 | ARSA | c.980-28G>C (n.980-28G>C) c.722-28G>C (n.722-28G>C) | dbSNP |
22 | g.50626092A>G | CA2657592290 | ARSA | c.980-29T>C (n.980-29T>C) c.722-29T>C (n.722-29T>C) | gnomAD v4 |
22 | g.50626093G>C | CA2657592291 | ARSA | c.980-30C>G (n.980-30C>G) c.722-30C>G (n.722-30C>G) | gnomAD v4 |
22 | g.50626093G= | CA2410958838 | ARSA | c.980-30C= (n.980-30C=) c.722-30C= (n.722-30C=) | |
22 | g.50626093G>T | CA2410958839 | ARSA | c.980-30C>A (n.980-30C>A) c.722-30C>A (n.722-30C>A) | dbSNP |
22 | g.50626094T>C | CA2657592293 | ARSA | c.980-31A>G (n.980-31A>G) c.722-31A>G (n.722-31A>G) | gnomAD v4 |
22 | g.50626096C>A | CA2657592295 | ARSA | c.980-33G>T (n.980-33G>T) c.722-33G>T (n.722-33G>T) | gnomAD v4 |
22 | g.50626096C= | CA2410958840 | ARSA | c.980-33G= (n.980-33G=) c.722-33G= (n.722-33G=) | |
22 | g.50626096C>T | CA10324851 | ARSA | c.980-33G>A (n.980-33G>A) c.722-33G>A (n.722-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626097G>A | CA10324852 | ARSA | c.980-34C>T (n.980-34C>T) c.722-34C>T (n.722-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.50626097G>C | CA2657592298 | ARSA | c.980-34C>G (n.980-34C>G) c.722-34C>G (n.722-34C>G) | gnomAD v4 |
22 | g.50626097G= | CA2410958841 | ARSA | c.980-34C= (n.980-34C=) c.722-34C= (n.722-34C=) | |
22 | g.50626097G>T | CA2657592299 | ARSA | c.980-34C>A (n.980-34C>A) c.722-34C>A (n.722-34C>A) | gnomAD v4 |
22 | g.50626098C= | CA2410958842 | ARSA | c.980-35G= (n.980-35G=) c.722-35G= (n.722-35G=) | |
22 | g.50626098C>T | CA325531322 | ARSA | c.980-35G>A (n.980-35G>A) c.722-35G>A (n.722-35G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626099C= | CA2410958843 | ARSA | c.980-36G= (n.980-36G=) c.722-36G= (n.722-36G=) | |
22 | g.50626099C>T | CA640358659 | ARSA | c.980-36G>A (n.980-36G>A) c.722-36G>A (n.722-36G>A) | dbSNP gnomAD v2 |
22 | g.50626100A= | CA2410958844 | ARSA | c.980-37T= (n.980-37T=) c.722-37T= (n.722-37T=) | |
22 | g.50626100A>G | CA2410958845 | ARSA | c.980-37T>C (n.980-37T>C) c.722-37T>C (n.722-37T>C) | dbSNP |
22 | g.50626101T>C | CA640358660 | ARSA | c.980-38A>G (n.980-38A>G) c.722-38A>G (n.722-38A>G) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626101T= | CA2410958846 | ARSA | c.980-38A= (n.980-38A=) c.722-38A= (n.722-38A=) | |
22 | g.50626102C>A | CA2657592311 | ARSA | c.980-39G>T (n.980-39G>T) c.722-39G>T (n.722-39G>T) | gnomAD v4 |
22 | g.50626102C= | CA2410958847 | ARSA | c.980-39G= (n.980-39G=) c.722-39G= (n.722-39G=) | |
22 | g.50626102C>T | CA10324853 | ARSA | c.980-39G>A (n.980-39G>A) c.722-39G>A (n.722-39G>A) | dbSNP ExAC gnomAD v4 |
22 | g.50626104A>C | CA2657592314 | ARSA | c.980-41T>G (n.980-41T>G) c.722-41T>G (n.722-41T>G) | gnomAD v4 |
22 | g.50626105G>C | CA2657592316 | ARSA | c.980-42C>G (n.980-42C>G) c.722-42C>G (n.722-42C>G) | gnomAD v4 |
22 | g.50626106G>A | CA2577767906 | ARSA | c.980-43C>T (n.980-43C>T) c.722-43C>T (n.722-43C>T) | gnomAD v4 |
22 | g.50626106G= | CA2410958848 | ARSA | c.980-43C= (n.980-43C=) c.722-43C= (n.722-43C=) | |
22 | g.50626106G>T | CA10324854 | ARSA | c.980-43C>A (n.980-43C>A) c.722-43C>A (n.722-43C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626109G>A | CA640358661 | ARSA | c.980-46C>T (n.980-46C>T) c.722-46C>T (n.722-46C>T) | dbSNP gnomAD v2 |
22 | g.50626109G= | CA2410958849 | ARSA | c.980-46C= (n.980-46C=) c.722-46C= (n.722-46C=) | |
22 | g.50626112dup | CA2842240905 | ARSA | c.980-46dup (n.980-46dup) c.722-46dup (n.722-46dup) | |
22 | g.50626112del | CA2657592318 | ARSA | c.980-46del (n.980-46del) c.722-46del (n.722-46del) | gnomAD v4 |
22 | g.50626110G>A | CA2657592320 | ARSA | c.979+44C>T (n.979+44C>T) c.721+44C>T (n.721+44C>T) | gnomAD v4 |
22 | g.50626110G>T | CA2657592322 | ARSA | c.979+44C>A (n.979+44C>A) c.721+44C>A (n.721+44C>A) | gnomAD v4 |
22 | g.50626111G>A | CA2410958851 | ARSA | c.979+43C>T (n.979+43C>T) c.721+43C>T (n.721+43C>T) | dbSNP gnomAD v4 |
22 | g.50626111G= | CA2410958850 | ARSA | c.979+43C= (n.979+43C=) c.721+43C= (n.721+43C=) | |
22 | g.50626112G>A | CA2577767907 | ARSA | c.979+42C>T (n.979+42C>T) c.721+42C>T (n.721+42C>T) | gnomAD v4 |
22 | g.50626114G>C | CA2657592326 | ARSA | c.979+40C>G (n.979+40C>G) c.721+40C>G (n.721+40C>G) | gnomAD v4 |
22 | g.50626115G>T | CA657868334 | ARSA | c.979+39C>A (n.979+39C>A) c.721+39C>A (n.721+39C>A) | COSMIC |
22 | g.50626116T>A | CA2580693246 | ARSA | c.979+38A>T (n.979+38A>T) c.721+38A>T (n.721+38A>T) | gnomAD v4 |
22 | g.50626116T>C | CA10324855 | ARSA | c.979+38A>G (n.979+38A>G) c.721+38A>G (n.721+38A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626116T>G | CA2410958853 | ARSA | c.979+38A>C (n.979+38A>C) c.721+38A>C (n.721+38A>C) | dbSNP gnomAD v4 |
22 | g.50626116T= | CA2410958852 | ARSA | c.979+38A= (n.979+38A=) c.721+38A= (n.721+38A=) | |
22 | g.50626117G>A | CA2657592332 | ARSA | c.979+37C>T (n.979+37C>T) c.721+37C>T (n.721+37C>T) | gnomAD v4 |
22 | g.50626117G>T | CA2657592333 | ARSA | c.979+37C>A (n.979+37C>A) c.721+37C>A (n.721+37C>A) | gnomAD v4 |
22 | g.50626118G>A | CA2410958855 | ARSA | c.979+36C>T (n.979+36C>T) c.721+36C>T (n.721+36C>T) | dbSNP gnomAD v4 |
22 | g.50626118G= | CA2410958854 | ARSA | c.979+36C= (n.979+36C=) c.721+36C= (n.721+36C=) | |
22 | g.50626119G>A | CA2577767908 | ARSA | c.979+35C>T (n.979+35C>T) c.721+35C>T (n.721+35C>T) | gnomAD v4 |
22 | g.50626119G>C | CA640358662 | ARSA | c.979+35C>G (n.979+35C>G) c.721+35C>G (n.721+35C>G) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626119G= | CA2410958856 | ARSA | c.979+35C= (n.979+35C=) c.721+35C= (n.721+35C=) | |
22 | g.50626120G>A | CA2657592334 | ARSA | c.979+34C>T (n.979+34C>T) c.721+34C>T (n.721+34C>T) | gnomAD v4 |
22 | g.50626120G>T | CA2657592335 | ARSA | c.979+34C>A (n.979+34C>A) c.721+34C>A (n.721+34C>A) | gnomAD v4 |
22 | g.50626121C>A | CA2657592336 | ARSA | c.979+33G>T (n.979+33G>T) c.721+33G>T (n.721+33G>T) | gnomAD v4 |
22 | g.50626121C= | CA2410958857 | ARSA | c.979+33G= (n.979+33G=) c.721+33G= (n.721+33G=) | |
22 | g.50626121C>T | CA640358663 | ARSA | c.979+33G>A (n.979+33G>A) c.721+33G>A (n.721+33G>A) | dbSNP gnomAD v2 |
22 | g.50626122C>A | CA2819316325 | ARSA | c.979+32G>T (n.979+32G>T) c.721+32G>T (n.721+32G>T) | |
22 | g.50626122C= | CA2410958858 | ARSA | c.979+32G= (n.979+32G=) c.721+32G= (n.721+32G=) | |
22 | g.50626122C>T | CA640358664 | ARSA | c.979+32G>A (n.979+32G>A) c.721+32G>A (n.721+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626123A>C | CA2577767909 | ARSA | c.979+31T>G (n.979+31T>G) c.721+31T>G (n.721+31T>G) | |
22 | g.50626124G>T | CA2657592337 | ARSA | c.979+30C>A (n.979+30C>A) c.721+30C>A (n.721+30C>A) | gnomAD v4 |
22 | g.50626126del | CA2577767910 | ARSA | c.979+30del (n.979+30del) c.721+30del (n.721+30del) | gnomAD v4 |
22 | g.50626125G>C | CA2503675087 | ARSA | c.979+29C>G (n.979+29C>G) c.721+29C>G (n.721+29C>G) | gnomAD v4 |
22 | g.50626125G>T | CA2657592338 | ARSA | c.979+29C>A (n.979+29C>A) c.721+29C>A (n.721+29C>A) | gnomAD v4 |
22 | g.50626126G>A | CA754068647 | ARSA | c.979+28C>T (n.979+28C>T) c.721+28C>T (n.721+28C>T) | dbSNP gnomAD v4 |
22 | g.50626126G>C | CA2657592340 | ARSA | c.979+28C>G (n.979+28C>G) c.721+28C>G (n.721+28C>G) | gnomAD v4 |
22 | g.50626126G= | CA2410958859 | ARSA | c.979+28C= (n.979+28C=) c.721+28C= (n.721+28C=) | |
22 | g.50626126G>T | CA2657592339 | ARSA | c.979+28C>A (n.979+28C>A) c.721+28C>A (n.721+28C>A) | gnomAD v4 |
22 | g.50626128T>C | CA325531323 | ARSA | c.979+26A>G (n.979+26A>G) c.721+26A>G (n.721+26A>G) | dbSNP gnomAD v4 |
22 | g.50626128T= | CA2410958860 | ARSA | c.979+26A= (n.979+26A=) c.721+26A= (n.721+26A=) | |
22 | g.50626132A>G | CA2657592341 | ARSA | c.979+22T>C (n.979+22T>C) c.721+22T>C (n.721+22T>C) | gnomAD v4 |
22 | g.50626133G>A | CA10324856 | ARSA | c.979+21C>T (n.979+21C>T) c.721+21C>T (n.721+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626133G= | CA2410958861 | ARSA | c.979+21C= (n.979+21C=) c.721+21C= (n.721+21C=) | |
22 | g.50626134G>A | CA640358665 | ARSA | c.979+20C>T (n.979+20C>T) c.721+20C>T (n.721+20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626134G= | CA2410958862 | ARSA | c.979+20C= (n.979+20C=) c.721+20C= (n.721+20C=) | |
22 | g.50626134G>T | CA1026680647 | ARSA | c.979+20C>A (n.979+20C>A) c.721+20C>A (n.721+20C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626136G>A | CA10324857 | ARSA | c.979+18C>T (n.979+18C>T) c.721+18C>T (n.721+18C>T) | ClinVar dbSNP ExAC gnomAD v4 |
22 | g.50626136G>C | CA2410958864 | ARSA | c.979+18C>G (n.979+18C>G) c.721+18C>G (n.721+18C>G) | dbSNP |
22 | g.50626136G= | CA2410958863 | ARSA | c.979+18C= (n.979+18C=) c.721+18C= (n.721+18C=) | |
22 | g.50626136G>T | CA2657592342 | ARSA | c.979+18C>A (n.979+18C>A) c.721+18C>A (n.721+18C>A) | gnomAD v4 |
22 | g.50626137A= | CA2410958866 | ARSA | c.979+17T= (n.979+17T=) c.721+17T= (n.721+17T=) | |
22 | g.50626137A>C | CA2410958865 | ARSA | c.979+17T>G (n.979+17T>G) c.721+17T>G (n.721+17T>G) | dbSNP |
22 | g.50626138G>A | CA2657592343 | ARSA | c.979+16C>T (n.979+16C>T) c.721+16C>T (n.721+16C>T) | gnomAD v4 |
22 | g.50626138G>T | CA2657592344 | ARSA | c.979+16C>A (n.979+16C>A) c.721+16C>A (n.721+16C>A) | gnomAD v4 |
22 | g.50626139G>A | CA325531325 | ARSA | c.979+15C>T (n.979+15C>T) c.721+15C>T (n.721+15C>T) | dbSNP gnomAD v4 |
22 | g.50626139G>C | CA2657592345 | ARSA | c.979+15C>G (n.979+15C>G) c.721+15C>G (n.721+15C>G) | gnomAD v4 |
22 | g.50626139G= | CA2410958867 | ARSA | c.979+15C= (n.979+15C=) c.721+15C= (n.721+15C=) | |
22 | g.50626139G>T | CA2410958868 | ARSA | c.979+15C>A (n.979+15C>A) c.721+15C>A (n.721+15C>A) | dbSNP gnomAD v4 |
22 | g.50626140G>A | CA754068655 | ARSA | c.979+14C>T (n.979+14C>T) c.721+14C>T (n.721+14C>T) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626140G= | CA2410958869 | ARSA | c.979+14C= (n.979+14C=) c.721+14C= (n.721+14C=) | |
22 | g.50626140G>T | CA2657592346 | ARSA | c.979+14C>A (n.979+14C>A) c.721+14C>A (n.721+14C>A) | gnomAD v4 |
22 | g.50626141C>A | CA2499226241 | ARSA | c.979+13G>T (n.979+13G>T) c.721+13G>T (n.721+13G>T) | ClinVar dbSNP |
22 | g.50626141C= | CA2410958870 | ARSA | c.979+13G= (n.979+13G=) c.721+13G= (n.721+13G=) | |
22 | g.50626141C>G | CA10324858 | ARSA | c.979+13G>C (n.979+13G>C) c.721+13G>C (n.721+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626141C>T | CA10324859 | ARSA | c.979+13G>A (n.979+13G>A) c.721+13G>A (n.721+13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626144G>A | CA640358666 | ARSA | c.979+10C>T (n.979+10C>T) c.721+10C>T (n.721+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626144G= | CA2410958871 | ARSA | c.979+10C= (n.979+10C=) c.721+10C= (n.721+10C=) | |
22 | g.50626144G>T | CA2657592348 | ARSA | c.979+10C>A (n.979+10C>A) c.721+10C>A (n.721+10C>A) | gnomAD v4 |
22 | g.50626145C>A | CA2410958873 | ARSA | c.979+9G>T (n.979+9G>T) c.721+9G>T (n.721+9G>T) | dbSNP gnomAD v4 |
22 | g.50626145C= | CA2410958872 | ARSA | c.979+9G= (n.979+9G=) c.721+9G= (n.721+9G=) | |
22 | g.50626145C>T | CA10324860 | ARSA | c.979+9G>A (n.979+9G>A) c.721+9G>A (n.721+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626146G>A | CA10324861 | ARSA | c.979+8C>T (n.979+8C>T) c.721+8C>T (n.721+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50626146G= | CA2410958874 | ARSA | c.979+8C= (n.979+8C=) c.721+8C= (n.721+8C=) | |
22 | g.50626147G>T | CA2657592350 | ARSA | c.979+7C>A (n.979+7C>A) c.721+7C>A (n.721+7C>A) | gnomAD v4 |
22 | g.50626148A>T | CA2657592351 | ARSA | c.979+6T>A (n.979+6T>A) c.721+6T>A (n.721+6T>A) | gnomAD v4 |
22 | g.50626149C= | CA2410958875 | ARSA | c.979+5G= (n.979+5G=) c.721+5G= (n.721+5G=) | |
22 | g.50626149C>T | CA640358667 | ARSA | c.979+5G>A (n.979+5G>A) c.721+5G>A (n.721+5G>A) | dbSNP gnomAD v2 |
22 | g.50626150_50626154delinsTGACC | CA2410958876 | ARSA | c.979_979+4delinsGGTCA c.721_721+4delinsGGTCA | |
22 | g.50626151G>A | CA2410958878 | ARSA | c.979+3C>T (n.979+3C>T) c.721+3C>T (n.721+3C>T) | dbSNP gnomAD v4 |
22 | g.50626151G>C | CA2657592353 | ARSA | c.979+3C>G (n.979+3C>G) c.721+3C>G (n.721+3C>G) | gnomAD v4 |
22 | g.50626151G= | CA2410958877 | ARSA | c.979+3C= (n.979+3C=) c.721+3C= (n.721+3C=) | |
22 | g.50626152_50626155del | CA16042036 | ARSA | c.979_979+3del c.721_721+3del | ClinVar dbSNP |
22 | g.50626152A>C | CA412174187 | ARSA | c.979+2T>G (n.979+2T>G) c.721+2T>G (n.721+2T>G) | gnomAD v4 |
22 | g.50626152A>G | CA412174190 | ARSA | c.979+2T>C (n.979+2T>C) c.721+2T>C (n.721+2T>C) | |
22 | g.50626152A>T | CA412174195 | ARSA | c.979+2T>A (n.979+2T>A) c.721+2T>A (n.721+2T>A) | |
22 | g.50626153C>A | CA10324862 | ARSA | c.979+1G>T (n.979+1G>T) c.721+1G>T (n.721+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626153C= | CA2410958879 | ARSA | c.979+1G= (n.979+1G=) c.721+1G= (n.721+1G=) | |
22 | g.50626153C>G | CA412174203 | ARSA | c.979+1G>C (n.979+1G>C) c.721+1G>C (n.721+1G>C) | |
22 | g.50626153C>T | CA278479 | ARSA | c.979+1G>A (n.979+1G>A) c.721+1G>A (n.721+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626154C>A | CA412174211 | ARSA | c.979G>T (p.Gly327Cys) c.721G>T (p.Gly241Cys) | ClinVar dbSNP gnomAD v4 |
22 | g.50626154C= | CA2410958880 | ARSA | c.979G= (p.Gly327=) c.721G= (p.Gly241=) | |
22 | g.50626154C>G | CA412174214 | ARSA | c.979G>C (p.Gly327Arg) c.721G>C (p.Gly241Arg) | |
22 | g.50626154C>T | CA10324863 | ARSA | c.979G>A (p.Gly327Ser) c.721G>A (p.Gly241Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626155G>A | CA515248931 | ARSA | c.978C>T (p.Pro326=) c.720C>T (p.Pro240=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626155G>C | CA515248932 | ARSA | c.978C>G (p.Pro326=) c.720C>G (p.Pro240=) | gnomAD v4 COSMIC |
22 | g.50626155G= | CA2410958881 | ARSA | c.978C= (p.Pro326=) c.720C= (p.Pro240=) | |
22 | g.50626155G>T | CA515248930 | ARSA | c.978C>A (p.Pro326=) c.720C>A (p.Pro240=) | |
22 | g.50626157del | CA2657592355 | ARSA | c.978del (p.Gly327AlafsTer2) c.720del (p.Gly241AlafsTer2) | gnomAD v4 |
22 | g.50626156G>A | CA412174222 | ARSA | c.977C>T (p.Pro326Leu) c.719C>T (p.Pro240Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626156G>C | CA412174226 | ARSA | c.977C>G (p.Pro326Arg) c.719C>G (p.Pro240Arg) | |
22 | g.50626156G= | CA2410958882 | ARSA | c.977C= (p.Pro326=) c.719C= (p.Pro240=) | |
22 | g.50626156G>T | CA412174229 | ARSA | c.977C>A (p.Pro326His) c.719C>A (p.Pro240His) | |
22 | g.50626157G>A | CA412174235 | ARSA | c.976C>T (p.Pro326Ser) c.718C>T (p.Pro240Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626157G>C | CA412174238 | ARSA | c.976C>G (p.Pro326Ala) c.718C>G (p.Pro240Ala) | |
22 | g.50626157G= | CA2410958883 | ARSA | c.976C= (p.Pro326=) c.718C= (p.Pro240=) | |
22 | g.50626157G>T | CA412174233 | ARSA | c.976C>A (p.Pro326Thr) c.718C>A (p.Pro240Thr) | |
22 | g.50626158A>C | CA515248935 | ARSA | c.975T>G (p.Ala325=) c.717T>G (p.Ala239=) | |
22 | g.50626158A>G | CA515248933 | ARSA | c.975T>C (p.Ala325=) c.717T>C (p.Ala239=) | |
22 | g.50626158A>T | CA515248934 | ARSA | c.975T>A (p.Ala325=) c.717T>A (p.Ala239=) | |
22 | g.50626159G>A | CA412174245 | ARSA | c.974C>T (p.Ala325Val) c.716C>T (p.Ala239Val) | |
22 | g.50626159G>C | CA412174241 | ARSA | c.974C>G (p.Ala325Gly) c.716C>G (p.Ala239Gly) | |
22 | g.50626159G>T | CA412174243 | ARSA | c.974C>A (p.Ala325Asp) c.716C>A (p.Ala239Asp) | |
22 | g.50626160C>A | CA412174250 | ARSA | c.973G>T (p.Ala325Ser) c.715G>T (p.Ala239Ser) | gnomAD v4 |
22 | g.50626160C= | CA2410958884 | ARSA | c.973G= (p.Ala325=) c.715G= (p.Ala239=) | |
22 | g.50626160C>G | CA412174253 | ARSA | c.973G>C (p.Ala325Pro) c.715G>C (p.Ala239Pro) | |
22 | g.50626160C>T | CA10324864 | ARSA | c.973G>A (p.Ala325Thr) c.715G>A (p.Ala239Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626161G>A | CA10324865 | ARSA | c.972C>T (p.Ile324=) c.714C>T (p.Ile238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50626161G>C | CA412174262 | ARSA | c.972C>G (p.Ile324Met) c.714C>G (p.Ile238Met) | |
22 | g.50626161G= | CA2410958885 | ARSA | c.972C= (p.Ile324=) c.714C= (p.Ile238=) | |
22 | g.50626161G>T | CA515248936 | ARSA | c.972C>A (p.Ile324=) c.714C>A (p.Ile238=) | gnomAD v4 |
22 | g.50626162A= | CA2410958886 | ARSA | c.971T= (p.Ile324=) c.713T= (p.Ile238=) | |
22 | g.50626162A>C | CA412174266 | ARSA | c.971T>G (p.Ile324Ser) c.713T>G (p.Ile238Ser) | |
22 | g.50626162A>G | CA412174267 | ARSA | c.971T>C (p.Ile324Thr) c.713T>C (p.Ile238Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626162A>T | CA412174268 | ARSA | c.971T>A (p.Ile324Asn) c.713T>A (p.Ile238Asn) | |
22 | g.50626163T>A | CA412174271 | ARSA | c.970A>T (p.Ile324Phe) c.712A>T (p.Ile238Phe) | ClinVar |
22 | g.50626163T>C | CA325531328 | ARSA | c.970A>G (p.Ile324Val) c.712A>G (p.Ile238Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626163T>G | CA412174276 | ARSA | c.970A>C (p.Ile324Leu) c.712A>C (p.Ile238Leu) | |
22 | g.50626163T= | CA2410958887 | ARSA | c.970A= (p.Ile324=) c.712A= (p.Ile238=) | |
22 | g.50626164A>C | CA412174282 | ARSA | c.969T>G (p.His323Gln) c.711T>G (p.His237Gln) | |
22 | g.50626164A>G | CA515248937 | ARSA | c.969T>C (p.His323=) c.711T>C (p.His237=) | |
22 | g.50626164A>T | CA412174279 | ARSA | c.969T>A (p.His323Gln) c.711T>A (p.His237Gln) | |
22 | g.50626165T>A | CA412174289 | ARSA | c.968A>T (p.His323Leu) c.710A>T (p.His237Leu) | |
22 | g.50626165T>C | CA412174293 | ARSA | c.968A>G (p.His323Arg) c.710A>G (p.His237Arg) | gnomAD v4 |
22 | g.50626165T>G | CA325531329 | ARSA | c.968A>C (p.His323Pro) c.710A>C (p.His237Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626165T= | CA2410958888 | ARSA | c.968A= (p.His323=) c.710A= (p.His237=) | |
22 | g.50626166G>A | CA325531330 | ARSA | c.967C>T (p.His323Tyr) c.709C>T (p.His237Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626166G>C | CA412174303 | ARSA | c.967C>G (p.His323Asp) c.709C>G (p.His237Asp) | |
22 | g.50626166G= | CA2410958889 | ARSA | c.967C= (p.His323=) c.709C= (p.His237=) | |
22 | g.50626166G>T | CA412174310 | ARSA | c.967C>A (p.His323Asn) c.709C>A (p.His237Asn) | |
22 | g.50626167A>C | CA515248938 | ARSA | c.966T>G (p.Gly322=) c.708T>G (p.Gly236=) | |
22 | g.50626167A>G | CA515248939 | ARSA | c.966T>C (p.Gly322=) c.708T>C (p.Gly236=) | |
22 | g.50626167A>T | CA515248940 | ARSA | c.966T>A (p.Gly322=) c.708T>A (p.Gly236=) | |
22 | g.50626168C>A | CA412174314 | ARSA | c.965G>T (p.Gly322Val) c.707G>T (p.Gly236Val) | |
22 | g.50626168C= | CA2410958890 | ARSA | c.965G= (p.Gly322=) c.707G= (p.Gly236=) | |
22 | g.50626168C>G | CA412174317 | ARSA | c.965G>C (p.Gly322Ala) c.707G>C (p.Gly236Ala) | |
22 | g.50626168C>T | CA10324866 | ARSA | c.965G>A (p.Gly322Asp) c.707G>A (p.Gly236Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626169C>A | CA412174321 | ARSA | c.964G>T (p.Gly322Cys) c.706G>T (p.Gly236Cys) | |
22 | g.50626169C>G | CA412174327 | ARSA | c.964G>C (p.Gly322Arg) c.706G>C (p.Gly236Arg) | |
22 | g.50626169C>T | CA412174329 | ARSA | c.964G>A (p.Gly322Ser) c.706G>A (p.Gly236Ser) | gnomAD v4 |
22 | g.50626170T>A | CA515248941 | ARSA | c.963A>T (p.Pro321=) c.705A>T (p.Pro235=) | |
22 | g.50626170T>C | CA325531332 | ARSA | c.963A>G (p.Pro321=) c.705A>G (p.Pro235=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626170T>G | CA515248942 | ARSA | c.963A>C (p.Pro321=) c.705A>C (p.Pro235=) | |
22 | g.50626170T= | CA2410958892 | ARSA | c.963A= (p.Pro321=) c.705A= (p.Pro235=) | |
22 | g.50626170_50626178delinsTGGCCAGAA | CA2410958891 | ARSA | c.955_963delinsTTCTGGCCA (p.Phe319=) c.697_705delinsTTCTGGCCA (p.Phe233=) | |
22 | g.50626171G>A | CA412174343 | ARSA | c.962C>T (p.Pro321Leu) c.704C>T (p.Pro235Leu) | |
22 | g.50626171G>C | CA412174339 | ARSA | c.962C>G (p.Pro321Arg) c.704C>G (p.Pro235Arg) | |
22 | g.50626171G>T | CA412174344 | ARSA | c.962C>A (p.Pro321Gln) c.704C>A (p.Pro235Gln) | |
22 | g.50626176_50626183del | CA10324867 | ARSA | c.955_962del (p.Phe319ArgfsTer?) c.697_704del (p.Phe233ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626172G>A | CA412174347 | ARSA | c.961C>T (p.Pro321Ser) c.703C>T (p.Pro235Ser) | COSMIC |
22 | g.50626172G>C | CA412174350 | ARSA | c.961C>G (p.Pro321Ala) c.703C>G (p.Pro235Ala) | |
22 | g.50626172G>T | CA412174351 | ARSA | c.961C>A (p.Pro321Thr) c.703C>A (p.Pro235Thr) | |
22 | g.50626173C>A | CA412174352 | ARSA | c.960G>T (p.Trp320Cys) c.702G>T (p.Trp234Cys) | |
22 | g.50626173C= | CA2410958893 | ARSA | c.960G= (p.Trp320=) c.702G= (p.Trp234=) | |
22 | g.50626173C>G | CA412174354 | ARSA | c.960G>C (p.Trp320Cys) c.702G>C (p.Trp234Cys) | |
22 | g.50626173C>T | CA412174356 | ARSA | c.960G>A (p.Trp320Ter) c.702G>A (p.Trp234Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626174C>A | CA412174359 | ARSA | c.959G>T (p.Trp320Leu) c.701G>T (p.Trp234Leu) | |
22 | g.50626174C= | CA2410958894 | ARSA | c.959G= (p.Trp320=) c.701G= (p.Trp234=) | |
22 | g.50626174C>G | CA412174361 | ARSA | c.959G>C (p.Trp320Ser) c.701G>C (p.Trp234Ser) | dbSNP |
22 | g.50626174C>T | CA412174362 | ARSA | c.959G>A (p.Trp320Ter) c.701G>A (p.Trp234Ter) | |
22 | g.50626174_50626177delinsCAGA | CA2410958895 | ARSA | c.956_959delinsTCTG (p.Phe319=) c.698_701delinsTCTG (p.Phe233=) | |
22 | g.50626175A= | CA2410958896 | ARSA | c.958T= (p.Trp320=) c.700T= (p.Trp234=) | |
22 | g.50626175A>C | CA10324868 | ARSA | c.958T>G (p.Trp320Gly) c.700T>G (p.Trp234Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626175A>G | CA412174369 | ARSA | c.958T>C (p.Trp320Arg) c.700T>C (p.Trp234Arg) | |
22 | g.50626175A>T | CA412174372 | ARSA | c.958T>A (p.Trp320Arg) c.700T>A (p.Trp234Arg) | |
22 | g.50626177_50626179del | CA1139667193 | ARSA | c.956_958del (p.Phe319del) c.698_700del (p.Phe233del) | ClinVar dbSNP |
22 | g.50626176G>A | CA515248943 | ARSA | c.957C>T (p.Phe319=) c.699C>T (p.Phe233=) | gnomAD v4 |
22 | g.50626176G>C | CA412174377 | ARSA | c.957C>G (p.Phe319Leu) c.699C>G (p.Phe233Leu) | gnomAD v4 |
22 | g.50626176G>T | CA412174375 | ARSA | c.957C>A (p.Phe319Leu) c.699C>A (p.Phe233Leu) | |
22 | g.50626177A= | CA2410958897 | ARSA | c.956T= (p.Phe319=) c.698T= (p.Phe233=) | |
22 | g.50626177A>C | CA412174383 | ARSA | c.956T>G (p.Phe319Cys) c.698T>G (p.Phe233Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626177A>G | CA412174384 | ARSA | c.956T>C (p.Phe319Ser) c.698T>C (p.Phe233Ser) | |
22 | g.50626177A>T | CA412174388 | ARSA | c.956T>A (p.Phe319Tyr) c.698T>A (p.Phe233Tyr) | |
22 | g.50626178del | CA645612058 | ARSA | c.956del (p.Phe319SerfsTer10) c.698del (p.Phe233SerfsTer10) | COSMIC |
22 | g.50626178A>C | CA412174391 | ARSA | c.955T>G (p.Phe319Val) c.697T>G (p.Phe233Val) | |
22 | g.50626178A>G | CA412174394 | ARSA | c.955T>C (p.Phe319Leu) c.697T>C (p.Phe233Leu) | |
22 | g.50626178A>T | CA412174396 | ARSA | c.955T>A (p.Phe319Ile) c.697T>A (p.Phe233Ile) | |
22 | g.50626178_50626179insTCAAGGCA | CA2580099935 | ARSA | c.955_956insGCCTTGAT (p.Phe319CysfsTer13) c.697_698insGCCTTGAT (p.Phe233CysfsTer13) | ClinVar |
22 | g.50626179G>A | CA515248944 | ARSA | c.954C>T (p.Ala318=) c.696C>T (p.Ala232=) | gnomAD v4 |
22 | g.50626179G>C | CA515248946 | ARSA | c.954C>G (p.Ala318=) c.696C>G (p.Ala232=) | |
22 | g.50626179G>T | CA515248945 | ARSA | c.954C>A (p.Ala318=) c.696C>A (p.Ala232=) | gnomAD v4 |
22 | g.50626180G>A | CA325531333 | ARSA | c.953C>T (p.Ala318Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP gnomAD v4 |
22 | g.50626180G>C | CA412174400 | ARSA | c.953C>G (p.Ala318Gly) c.695C>G (p.Ala232Gly) | |
22 | g.50626180G= | CA2410958898 | ARSA | c.953C= (p.Ala318=) c.695C= (p.Ala232=) | |
22 | g.50626180G>T | CA412174404 | ARSA | c.953C>A (p.Ala318Asp) c.695C>A (p.Ala232Asp) | |
22 | g.50626181C>A | CA412174407 | ARSA | c.952G>T (p.Ala318Ser) c.694G>T (p.Ala232Ser) | |
22 | g.50626181C>G | CA412174410 | ARSA | c.952G>C (p.Ala318Pro) c.694G>C (p.Ala232Pro) | |
22 | g.50626181C>T | CA412174414 | ARSA | c.952G>A (p.Ala318Thr) c.694G>A (p.Ala232Thr) | |
22 | g.50626182C>A | CA412174419 | ARSA | c.951G>T (p.Leu317Phe) c.693G>T (p.Leu231Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626182C= | CA2410958899 | ARSA | c.951G= (p.Leu317=) c.693G= (p.Leu231=) | |
22 | g.50626182C>G | CA412174423 | ARSA | c.951G>C (p.Leu317Phe) c.693G>C (p.Leu231Phe) | |
22 | g.50626182C>T | CA515248948 | ARSA | c.951G>A (p.Leu317=) c.693G>A (p.Leu231=) | ClinVar |
22 | g.50626183A>C | CA412174425 | ARSA | c.950T>G (p.Leu317Trp) c.692T>G (p.Leu231Trp) | |
22 | g.50626183A>G | CA412174427 | ARSA | c.950T>C (p.Leu317Ser) c.692T>C (p.Leu231Ser) | |
22 | g.50626183A>T | CA412174424 | ARSA | c.950T>A (p.Leu317Ter) c.692T>A (p.Leu231Ter) | |
22 | g.50626184A= | CA2410958900 | ARSA | c.949T= (p.Leu317=) c.691T= (p.Leu231=) | |
22 | g.50626184A>C | CA412174432 | ARSA | c.949T>G (p.Leu317Val) c.691T>G (p.Leu231Val) | |
22 | g.50626184A>G | CA515248949 | ARSA | c.949T>C (p.Leu317=) c.691T>C (p.Leu231=) | ClinVar gnomAD v4 |
22 | g.50626184A>T | CA325531334 | ARSA | c.949T>A (p.Leu317Met) c.691T>A (p.Leu231Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626185G>A | CA515248950 | ARSA | c.948C>T (p.Ala316=) c.690C>T (p.Ala230=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626185G>C | CA515248951 | ARSA | c.948C>G (p.Ala316=) c.690C>G (p.Ala230=) | |
22 | g.50626185G= | CA2410958901 | ARSA | c.948C= (p.Ala316=) c.690C= (p.Ala230=) | |
22 | g.50626185G>T | CA515248952 | ARSA | c.948C>A (p.Ala316=) c.690C>A (p.Ala230=) | |
22 | g.50626186G>A | CA412174445 | ARSA | c.947C>T (p.Ala316Val) c.689C>T (p.Ala230Val) | |
22 | g.50626186G>C | CA412174437 | ARSA | c.947C>G (p.Ala316Gly) c.689C>G (p.Ala230Gly) | |
22 | g.50626186G= | CA2410958902 | ARSA | c.947C= (p.Ala316=) c.689C= (p.Ala230=) | |
22 | g.50626186G>T | CA412174440 | ARSA | c.947C>A (p.Ala316Asp) c.689C>A (p.Ala230Asp) | ClinVar dbSNP |
22 | g.50626187C>A | CA412174450 | ARSA | c.946G>T (p.Ala316Ser) c.688G>T (p.Ala230Ser) | |
22 | g.50626187C= | CA2410958903 | ARSA | c.946G= (p.Ala316=) c.688G= (p.Ala230=) | |
22 | g.50626187C>G | CA412174454 | ARSA | c.946G>C (p.Ala316Pro) c.688G>C (p.Ala230Pro) | |
22 | g.50626187C>T | CA219090 | ARSA | c.946G>A (p.Ala316Thr) c.688G>A (p.Ala230Thr) | ClinVar dbSNP gnomAD v4 |
22 | g.50626188A>C | CA515248953 | ARSA | c.945T>G (p.Pro315=) c.687T>G (p.Pro229=) | |
22 | g.50626188A>G | CA515248954 | ARSA | c.945T>C (p.Pro315=) c.687T>C (p.Pro229=) | gnomAD v4 |
22 | g.50626188A>T | CA515248955 | ARSA | c.945T>A (p.Pro315=) c.687T>A (p.Pro229=) |