Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28835516C>ACA2632528767ATXN2Lc.2686-33C>A (n.2686-33C>A)
c.661-33C>A (n.661-33C>A)
n.3027C>A
c.2704-33C>A (n.2704-33C>A)
c.1750-33C>A (n.1750-33C>A)
c.661-30C>A (n.661-30C>A)
c.212-39C>A
c.2704-30C>A (n.2704-30C>A)
c.2686-30C>A (n.2686-30C>A)
c.2524-30C>A (n.2524-30C>A)
c.2632-30C>A (n.2632-30C>A)
c.2614-30C>A (n.2614-30C>A)
c.2338-30C>A (n.2338-30C>A)
n.2916-33C>A
c.2506-30C>A (n.2506-30C>A)
c.2320-30C>A (n.2320-30C>A)
n.2916-30C>A
c.2614-33C>A (n.2614-33C>A)
c.2686-39C>A (n.2686-39C>A)
c.2617-33C>A (n.2617-33C>A)
c.2632-33C>A (n.2632-33C>A)
c.2497-33C>A (n.2497-33C>A)
 gnomAD v4
16g.28835516C=CA2215806227ATXN2Lc.2686-33C= (n.2686-33C=)
c.661-33C= (n.661-33C=)
n.3027C=
c.2704-33C= (n.2704-33C=)
c.1750-33C= (n.1750-33C=)
c.661-30C= (n.661-30C=)
c.212-39C=
c.2704-30C= (n.2704-30C=)
c.2686-30C= (n.2686-30C=)
c.2524-30C= (n.2524-30C=)
c.2632-30C= (n.2632-30C=)
c.2614-30C= (n.2614-30C=)
c.2338-30C= (n.2338-30C=)
n.2916-33C=
c.2506-30C= (n.2506-30C=)
c.2320-30C= (n.2320-30C=)
n.2916-30C=
c.2614-33C= (n.2614-33C=)
c.2686-39C= (n.2686-39C=)
c.2617-33C= (n.2617-33C=)
c.2632-33C= (n.2632-33C=)
c.2497-33C= (n.2497-33C=)
16g.28835516C>TCA7985065ATXN2Lc.2686-33C>T (n.2686-33C>T)
c.661-33C>T (n.661-33C>T)
n.3027C>T
c.2704-33C>T (n.2704-33C>T)
c.1750-33C>T (n.1750-33C>T)
c.661-30C>T (n.661-30C>T)
c.212-39C>T
c.2704-30C>T (n.2704-30C>T)
c.2686-30C>T (n.2686-30C>T)
c.2524-30C>T (n.2524-30C>T)
c.2632-30C>T (n.2632-30C>T)
c.2614-30C>T (n.2614-30C>T)
c.2338-30C>T (n.2338-30C>T)
n.2916-33C>T
c.2506-30C>T (n.2506-30C>T)
c.2320-30C>T (n.2320-30C>T)
n.2916-30C>T
c.2614-33C>T (n.2614-33C>T)
c.2686-39C>T (n.2686-39C>T)
c.2617-33C>T (n.2617-33C>T)
c.2632-33C>T (n.2632-33C>T)
c.2497-33C>T (n.2497-33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835517T>CCA2524064106ATXN2Lc.2686-32T>C (n.2686-32T>C)
c.661-32T>C (n.661-32T>C)
n.3028T>C
c.2704-32T>C (n.2704-32T>C)
c.1750-32T>C (n.1750-32T>C)
c.661-29T>C (n.661-29T>C)
c.212-38T>C
c.2704-29T>C (n.2704-29T>C)
c.2686-29T>C (n.2686-29T>C)
c.2524-29T>C (n.2524-29T>C)
c.2632-29T>C (n.2632-29T>C)
c.2614-29T>C (n.2614-29T>C)
c.2338-29T>C (n.2338-29T>C)
n.2916-32T>C
c.2506-29T>C (n.2506-29T>C)
c.2320-29T>C (n.2320-29T>C)
n.2916-29T>C
c.2614-32T>C (n.2614-32T>C)
c.2686-38T>C (n.2686-38T>C)
c.2617-32T>C (n.2617-32T>C)
c.2632-32T>C (n.2632-32T>C)
c.2497-32T>C (n.2497-32T>C)
16g.28835518G>ACA279230718ATXN2Lc.2686-31G>A (n.2686-31G>A)
c.661-31G>A (n.661-31G>A)
n.3029G>A
c.2704-31G>A (n.2704-31G>A)
c.1750-31G>A (n.1750-31G>A)
c.661-28G>A (n.661-28G>A)
c.212-37G>A
c.2704-28G>A (n.2704-28G>A)
c.2686-28G>A (n.2686-28G>A)
c.2524-28G>A (n.2524-28G>A)
c.2632-28G>A (n.2632-28G>A)
c.2614-28G>A (n.2614-28G>A)
c.2338-28G>A (n.2338-28G>A)
n.2916-31G>A
c.2506-28G>A (n.2506-28G>A)
c.2320-28G>A (n.2320-28G>A)
n.2916-28G>A
c.2614-31G>A (n.2614-31G>A)
c.2686-37G>A (n.2686-37G>A)
c.2617-31G>A (n.2617-31G>A)
c.2632-31G>A (n.2632-31G>A)
c.2497-31G>A (n.2497-31G>A)
 dbSNP
16g.28835518G>CCA2632528770ATXN2Lc.2686-31G>C (n.2686-31G>C)
c.661-31G>C (n.661-31G>C)
n.3029G>C
c.2704-31G>C (n.2704-31G>C)
c.1750-31G>C (n.1750-31G>C)
c.661-28G>C (n.661-28G>C)
c.212-37G>C
c.2704-28G>C (n.2704-28G>C)
c.2686-28G>C (n.2686-28G>C)
c.2524-28G>C (n.2524-28G>C)
c.2632-28G>C (n.2632-28G>C)
c.2614-28G>C (n.2614-28G>C)
c.2338-28G>C (n.2338-28G>C)
n.2916-31G>C
c.2506-28G>C (n.2506-28G>C)
c.2320-28G>C (n.2320-28G>C)
n.2916-28G>C
c.2614-31G>C (n.2614-31G>C)
c.2686-37G>C (n.2686-37G>C)
c.2617-31G>C (n.2617-31G>C)
c.2632-31G>C (n.2632-31G>C)
c.2497-31G>C (n.2497-31G>C)
 gnomAD v4
16g.28835518G=CA2215806229ATXN2Lc.2686-31G= (n.2686-31G=)
c.661-31G= (n.661-31G=)
n.3029G=
c.2704-31G= (n.2704-31G=)
c.1750-31G= (n.1750-31G=)
c.661-28G= (n.661-28G=)
c.212-37G=
c.2704-28G= (n.2704-28G=)
c.2686-28G= (n.2686-28G=)
c.2524-28G= (n.2524-28G=)
c.2632-28G= (n.2632-28G=)
c.2614-28G= (n.2614-28G=)
c.2338-28G= (n.2338-28G=)
n.2916-31G=
c.2506-28G= (n.2506-28G=)
c.2320-28G= (n.2320-28G=)
n.2916-28G=
c.2614-31G= (n.2614-31G=)
c.2686-37G= (n.2686-37G=)
c.2617-31G= (n.2617-31G=)
c.2632-31G= (n.2632-31G=)
c.2497-31G= (n.2497-31G=)
16g.28835519T>ACA719715048ATXN2Lc.2686-30T>A (n.2686-30T>A)
c.661-30T>A (n.661-30T>A)
n.3030T>A
c.2704-30T>A (n.2704-30T>A)
c.1750-30T>A (n.1750-30T>A)
c.661-27T>A (n.661-27T>A)
c.212-36T>A
c.2704-27T>A (n.2704-27T>A)
c.2686-27T>A (n.2686-27T>A)
c.2524-27T>A (n.2524-27T>A)
c.2632-27T>A (n.2632-27T>A)
c.2614-27T>A (n.2614-27T>A)
c.2338-27T>A (n.2338-27T>A)
n.2916-30T>A
c.2506-27T>A (n.2506-27T>A)
c.2320-27T>A (n.2320-27T>A)
n.2916-27T>A
c.2614-30T>A (n.2614-30T>A)
c.2686-36T>A (n.2686-36T>A)
c.2617-30T>A (n.2617-30T>A)
c.2632-30T>A (n.2632-30T>A)
c.2497-30T>A (n.2497-30T>A)
 dbSNP gnomAD v4
16g.28835519T>CCA2581259117ATXN2Lc.2686-30T>C (n.2686-30T>C)
c.661-30T>C (n.661-30T>C)
n.3030T>C
c.2704-30T>C (n.2704-30T>C)
c.1750-30T>C (n.1750-30T>C)
c.661-27T>C (n.661-27T>C)
c.212-36T>C
c.2704-27T>C (n.2704-27T>C)
c.2686-27T>C (n.2686-27T>C)
c.2524-27T>C (n.2524-27T>C)
c.2632-27T>C (n.2632-27T>C)
c.2614-27T>C (n.2614-27T>C)
c.2338-27T>C (n.2338-27T>C)
n.2916-30T>C
c.2506-27T>C (n.2506-27T>C)
c.2320-27T>C (n.2320-27T>C)
n.2916-27T>C
c.2614-30T>C (n.2614-30T>C)
c.2686-36T>C (n.2686-36T>C)
c.2617-30T>C (n.2617-30T>C)
c.2632-30T>C (n.2632-30T>C)
c.2497-30T>C (n.2497-30T>C)
16g.28835519T>GCA7985066ATXN2Lc.2686-30T>G (n.2686-30T>G)
c.661-30T>G (n.661-30T>G)
n.3030T>G
c.2704-30T>G (n.2704-30T>G)
c.1750-30T>G (n.1750-30T>G)
c.661-27T>G (n.661-27T>G)
c.212-36T>G
c.2704-27T>G (n.2704-27T>G)
c.2686-27T>G (n.2686-27T>G)
c.2524-27T>G (n.2524-27T>G)
c.2632-27T>G (n.2632-27T>G)
c.2614-27T>G (n.2614-27T>G)
c.2338-27T>G (n.2338-27T>G)
n.2916-30T>G
c.2506-27T>G (n.2506-27T>G)
c.2320-27T>G (n.2320-27T>G)
n.2916-27T>G
c.2614-30T>G (n.2614-30T>G)
c.2686-36T>G (n.2686-36T>G)
c.2617-30T>G (n.2617-30T>G)
c.2632-30T>G (n.2632-30T>G)
c.2497-30T>G (n.2497-30T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835519T=CA2215806231ATXN2Lc.2686-30T= (n.2686-30T=)
c.661-30T= (n.661-30T=)
n.3030T=
c.2704-30T= (n.2704-30T=)
c.1750-30T= (n.1750-30T=)
c.661-27T= (n.661-27T=)
c.212-36T=
c.2704-27T= (n.2704-27T=)
c.2686-27T= (n.2686-27T=)
c.2524-27T= (n.2524-27T=)
c.2632-27T= (n.2632-27T=)
c.2614-27T= (n.2614-27T=)
c.2338-27T= (n.2338-27T=)
n.2916-30T=
c.2506-27T= (n.2506-27T=)
c.2320-27T= (n.2320-27T=)
n.2916-27T=
c.2614-30T= (n.2614-30T=)
c.2686-36T= (n.2686-36T=)
c.2617-30T= (n.2617-30T=)
c.2632-30T= (n.2632-30T=)
c.2497-30T= (n.2497-30T=)
16g.28835520G>ACA7985067ATXN2Lc.2686-29G>A (n.2686-29G>A)
c.661-29G>A (n.661-29G>A)
n.3031G>A
c.2704-29G>A (n.2704-29G>A)
c.1750-29G>A (n.1750-29G>A)
c.661-26G>A (n.661-26G>A)
c.212-35G>A
c.2704-26G>A (n.2704-26G>A)
c.2686-26G>A (n.2686-26G>A)
c.2524-26G>A (n.2524-26G>A)
c.2632-26G>A (n.2632-26G>A)
c.2614-26G>A (n.2614-26G>A)
c.2338-26G>A (n.2338-26G>A)
n.2916-29G>A
c.2506-26G>A (n.2506-26G>A)
c.2320-26G>A (n.2320-26G>A)
n.2916-26G>A
c.2614-29G>A (n.2614-29G>A)
c.2686-35G>A (n.2686-35G>A)
c.2617-29G>A (n.2617-29G>A)
c.2632-29G>A (n.2632-29G>A)
c.2497-29G>A (n.2497-29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835520G=CA2215806235ATXN2Lc.2686-29G= (n.2686-29G=)
c.661-29G= (n.661-29G=)
n.3031G=
c.2704-29G= (n.2704-29G=)
c.1750-29G= (n.1750-29G=)
c.661-26G= (n.661-26G=)
c.212-35G=
c.2704-26G= (n.2704-26G=)
c.2686-26G= (n.2686-26G=)
c.2524-26G= (n.2524-26G=)
c.2632-26G= (n.2632-26G=)
c.2614-26G= (n.2614-26G=)
c.2338-26G= (n.2338-26G=)
n.2916-29G=
c.2506-26G= (n.2506-26G=)
c.2320-26G= (n.2320-26G=)
n.2916-26G=
c.2614-29G= (n.2614-29G=)
c.2686-35G= (n.2686-35G=)
c.2617-29G= (n.2617-29G=)
c.2632-29G= (n.2632-29G=)
c.2497-29G= (n.2497-29G=)
16g.28835521T>GCA2632528773ATXN2Lc.2686-28T>G (n.2686-28T>G)
c.661-28T>G (n.661-28T>G)
n.3032T>G
c.2704-28T>G (n.2704-28T>G)
c.1750-28T>G (n.1750-28T>G)
c.661-25T>G (n.661-25T>G)
c.212-34T>G
c.2704-25T>G (n.2704-25T>G)
c.2686-25T>G (n.2686-25T>G)
c.2524-25T>G (n.2524-25T>G)
c.2632-25T>G (n.2632-25T>G)
c.2614-25T>G (n.2614-25T>G)
c.2338-25T>G (n.2338-25T>G)
n.2916-28T>G
c.2506-25T>G (n.2506-25T>G)
c.2320-25T>G (n.2320-25T>G)
n.2916-25T>G
c.2614-28T>G (n.2614-28T>G)
c.2686-34T>G (n.2686-34T>G)
c.2617-28T>G (n.2617-28T>G)
c.2632-28T>G (n.2632-28T>G)
c.2497-28T>G (n.2497-28T>G)
 gnomAD v4
16g.28835522G>ACA2632528774ATXN2Lc.2686-27G>A (n.2686-27G>A)
c.661-27G>A (n.661-27G>A)
n.3033G>A
c.2704-27G>A (n.2704-27G>A)
c.1750-27G>A (n.1750-27G>A)
c.661-24G>A (n.661-24G>A)
c.212-33G>A
c.2704-24G>A (n.2704-24G>A)
c.2686-24G>A (n.2686-24G>A)
c.2524-24G>A (n.2524-24G>A)
c.2632-24G>A (n.2632-24G>A)
c.2614-24G>A (n.2614-24G>A)
c.2338-24G>A (n.2338-24G>A)
n.2916-27G>A
c.2506-24G>A (n.2506-24G>A)
c.2320-24G>A (n.2320-24G>A)
n.2916-24G>A
c.2614-27G>A (n.2614-27G>A)
c.2686-33G>A (n.2686-33G>A)
c.2617-27G>A (n.2617-27G>A)
c.2632-27G>A (n.2632-27G>A)
c.2497-27G>A (n.2497-27G>A)
 gnomAD v4
16g.28835523G>ACA2632528775ATXN2Lc.2686-26G>A (n.2686-26G>A)
c.661-26G>A (n.661-26G>A)
n.3034G>A
c.2704-26G>A (n.2704-26G>A)
c.1750-26G>A (n.1750-26G>A)
c.661-23G>A (n.661-23G>A)
c.212-32G>A
c.2704-23G>A (n.2704-23G>A)
c.2686-23G>A (n.2686-23G>A)
c.2524-23G>A (n.2524-23G>A)
c.2632-23G>A (n.2632-23G>A)
c.2614-23G>A (n.2614-23G>A)
c.2338-23G>A (n.2338-23G>A)
n.2916-26G>A
c.2506-23G>A (n.2506-23G>A)
c.2320-23G>A (n.2320-23G>A)
n.2916-23G>A
c.2614-26G>A (n.2614-26G>A)
c.2686-32G>A (n.2686-32G>A)
c.2617-26G>A (n.2617-26G>A)
c.2632-26G>A (n.2632-26G>A)
c.2497-26G>A (n.2497-26G>A)
 gnomAD v4
16g.28835524C=CA2215806239ATXN2Lc.2686-25C= (n.2686-25C=)
c.661-25C= (n.661-25C=)
n.3035C=
c.2704-25C= (n.2704-25C=)
c.1750-25C= (n.1750-25C=)
c.661-22C= (n.661-22C=)
c.212-31C=
c.2704-22C= (n.2704-22C=)
c.2686-22C= (n.2686-22C=)
c.2524-22C= (n.2524-22C=)
c.2632-22C= (n.2632-22C=)
c.2614-22C= (n.2614-22C=)
c.2338-22C= (n.2338-22C=)
n.2916-25C=
c.2506-22C= (n.2506-22C=)
c.2320-22C= (n.2320-22C=)
n.2916-22C=
c.2614-25C= (n.2614-25C=)
c.2686-31C= (n.2686-31C=)
c.2617-25C= (n.2617-25C=)
c.2632-25C= (n.2632-25C=)
c.2497-25C= (n.2497-25C=)
16g.28835524C>TCA7985068ATXN2Lc.2686-25C>T (n.2686-25C>T)
c.661-25C>T (n.661-25C>T)
n.3035C>T
c.2704-25C>T (n.2704-25C>T)
c.1750-25C>T (n.1750-25C>T)
c.661-22C>T (n.661-22C>T)
c.212-31C>T
c.2704-22C>T (n.2704-22C>T)
c.2686-22C>T (n.2686-22C>T)
c.2524-22C>T (n.2524-22C>T)
c.2632-22C>T (n.2632-22C>T)
c.2614-22C>T (n.2614-22C>T)
c.2338-22C>T (n.2338-22C>T)
n.2916-25C>T
c.2506-22C>T (n.2506-22C>T)
c.2320-22C>T (n.2320-22C>T)
n.2916-22C>T
c.2614-25C>T (n.2614-25C>T)
c.2686-31C>T (n.2686-31C>T)
c.2617-25C>T (n.2617-25C>T)
c.2632-25C>T (n.2632-25C>T)
c.2497-25C>T (n.2497-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835525A=CA2215806240ATXN2Lc.2686-24A= (n.2686-24A=)
c.661-24A= (n.661-24A=)
n.3036A=
c.2704-24A= (n.2704-24A=)
c.1750-24A= (n.1750-24A=)
c.661-21A= (n.661-21A=)
c.212-30A=
c.2704-21A= (n.2704-21A=)
c.2686-21A= (n.2686-21A=)
c.2524-21A= (n.2524-21A=)
c.2632-21A= (n.2632-21A=)
c.2614-21A= (n.2614-21A=)
c.2338-21A= (n.2338-21A=)
n.2916-24A=
c.2506-21A= (n.2506-21A=)
c.2320-21A= (n.2320-21A=)
n.2916-21A=
c.2614-24A= (n.2614-24A=)
c.2686-30A= (n.2686-30A=)
c.2617-24A= (n.2617-24A=)
c.2632-24A= (n.2632-24A=)
c.2497-24A= (n.2497-24A=)
16g.28835525A>CCA2215806242ATXN2Lc.2686-24A>C (n.2686-24A>C)
c.661-24A>C (n.661-24A>C)
n.3036A>C
c.2704-24A>C (n.2704-24A>C)
c.1750-24A>C (n.1750-24A>C)
c.661-21A>C (n.661-21A>C)
c.212-30A>C
c.2704-21A>C (n.2704-21A>C)
c.2686-21A>C (n.2686-21A>C)
c.2524-21A>C (n.2524-21A>C)
c.2632-21A>C (n.2632-21A>C)
c.2614-21A>C (n.2614-21A>C)
c.2338-21A>C (n.2338-21A>C)
n.2916-24A>C
c.2506-21A>C (n.2506-21A>C)
c.2320-21A>C (n.2320-21A>C)
n.2916-21A>C
c.2614-24A>C (n.2614-24A>C)
c.2686-30A>C (n.2686-30A>C)
c.2617-24A>C (n.2617-24A>C)
c.2632-24A>C (n.2632-24A>C)
c.2497-24A>C (n.2497-24A>C)
 dbSNP
16g.28835525A>GCA279230724ATXN2Lc.2686-24A>G (n.2686-24A>G)
c.661-24A>G (n.661-24A>G)
n.3036A>G
c.2704-24A>G (n.2704-24A>G)
c.1750-24A>G (n.1750-24A>G)
c.661-21A>G (n.661-21A>G)
c.212-30A>G
c.2704-21A>G (n.2704-21A>G)
c.2686-21A>G (n.2686-21A>G)
c.2524-21A>G (n.2524-21A>G)
c.2632-21A>G (n.2632-21A>G)
c.2614-21A>G (n.2614-21A>G)
c.2338-21A>G (n.2338-21A>G)
n.2916-24A>G
c.2506-21A>G (n.2506-21A>G)
c.2320-21A>G (n.2320-21A>G)
n.2916-21A>G
c.2614-24A>G (n.2614-24A>G)
c.2686-30A>G (n.2686-30A>G)
c.2617-24A>G (n.2617-24A>G)
c.2632-24A>G (n.2632-24A>G)
c.2497-24A>G (n.2497-24A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.28835526C>ACA2632528777ATXN2Lc.2686-23C>A (n.2686-23C>A)
c.661-23C>A (n.661-23C>A)
n.3037C>A
c.2704-23C>A (n.2704-23C>A)
c.1750-23C>A (n.1750-23C>A)
c.661-20C>A (n.661-20C>A)
c.212-29C>A
c.2704-20C>A (n.2704-20C>A)
c.2686-20C>A (n.2686-20C>A)
c.2524-20C>A (n.2524-20C>A)
c.2632-20C>A (n.2632-20C>A)
c.2614-20C>A (n.2614-20C>A)
c.2338-20C>A (n.2338-20C>A)
n.2916-23C>A
c.2506-20C>A (n.2506-20C>A)
c.2320-20C>A (n.2320-20C>A)
n.2916-20C>A
c.2614-23C>A (n.2614-23C>A)
c.2686-29C>A (n.2686-29C>A)
c.2617-23C>A (n.2617-23C>A)
c.2632-23C>A (n.2632-23C>A)
c.2497-23C>A (n.2497-23C>A)
 gnomAD v4
16g.28835526C>TCA2575959508ATXN2Lc.2686-23C>T (n.2686-23C>T)
c.661-23C>T (n.661-23C>T)
n.3037C>T
c.2704-23C>T (n.2704-23C>T)
c.1750-23C>T (n.1750-23C>T)
c.661-20C>T (n.661-20C>T)
c.212-29C>T
c.2704-20C>T (n.2704-20C>T)
c.2686-20C>T (n.2686-20C>T)
c.2524-20C>T (n.2524-20C>T)
c.2632-20C>T (n.2632-20C>T)
c.2614-20C>T (n.2614-20C>T)
c.2338-20C>T (n.2338-20C>T)
n.2916-23C>T
c.2506-20C>T (n.2506-20C>T)
c.2320-20C>T (n.2320-20C>T)
n.2916-20C>T
c.2614-23C>T (n.2614-23C>T)
c.2686-29C>T (n.2686-29C>T)
c.2617-23C>T (n.2617-23C>T)
c.2632-23C>T (n.2632-23C>T)
c.2497-23C>T (n.2497-23C>T)
 gnomAD v4
16g.28835530A=CA2215806243ATXN2Lc.2686-19A= (n.2686-19A=)
c.661-19A= (n.661-19A=)
n.3041A=
c.2704-19A= (n.2704-19A=)
c.1750-19A= (n.1750-19A=)
c.661-16A= (n.661-16A=)
c.212-25A=
c.2704-16A= (n.2704-16A=)
c.2686-16A= (n.2686-16A=)
c.2524-16A= (n.2524-16A=)
c.2632-16A= (n.2632-16A=)
c.2614-16A= (n.2614-16A=)
c.2338-16A= (n.2338-16A=)
n.2916-19A=
c.2506-16A= (n.2506-16A=)
c.2320-16A= (n.2320-16A=)
n.2916-16A=
c.2614-19A= (n.2614-19A=)
c.2686-25A= (n.2686-25A=)
c.2617-19A= (n.2617-19A=)
c.2632-19A= (n.2632-19A=)
c.2497-19A= (n.2497-19A=)
16g.28835530A>CCA2215806244ATXN2Lc.2686-19A>C (n.2686-19A>C)
c.661-19A>C (n.661-19A>C)
n.3041A>C
c.2704-19A>C (n.2704-19A>C)
c.1750-19A>C (n.1750-19A>C)
c.661-16A>C (n.661-16A>C)
c.212-25A>C
c.2704-16A>C (n.2704-16A>C)
c.2686-16A>C (n.2686-16A>C)
c.2524-16A>C (n.2524-16A>C)
c.2632-16A>C (n.2632-16A>C)
c.2614-16A>C (n.2614-16A>C)
c.2338-16A>C (n.2338-16A>C)
n.2916-19A>C
c.2506-16A>C (n.2506-16A>C)
c.2320-16A>C (n.2320-16A>C)
n.2916-16A>C
c.2614-19A>C (n.2614-19A>C)
c.2686-25A>C (n.2686-25A>C)
c.2617-19A>C (n.2617-19A>C)
c.2632-19A>C (n.2632-19A>C)
c.2497-19A>C (n.2497-19A>C)
 dbSNP
16g.28835530A>GCA7985069ATXN2Lc.2686-19A>G (n.2686-19A>G)
c.661-19A>G (n.661-19A>G)
n.3041A>G
c.2704-19A>G (n.2704-19A>G)
c.1750-19A>G (n.1750-19A>G)
c.661-16A>G (n.661-16A>G)
c.212-25A>G
c.2704-16A>G (n.2704-16A>G)
c.2686-16A>G (n.2686-16A>G)
c.2524-16A>G (n.2524-16A>G)
c.2632-16A>G (n.2632-16A>G)
c.2614-16A>G (n.2614-16A>G)
c.2338-16A>G (n.2338-16A>G)
n.2916-19A>G
c.2506-16A>G (n.2506-16A>G)
c.2320-16A>G (n.2320-16A>G)
n.2916-16A>G
c.2614-19A>G (n.2614-19A>G)
c.2686-25A>G (n.2686-25A>G)
c.2617-19A>G (n.2617-19A>G)
c.2632-19A>G (n.2632-19A>G)
c.2497-19A>G (n.2497-19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835532C=CA2215806245ATXN2Lc.2686-17C= (n.2686-17C=)
c.661-17C= (n.661-17C=)
n.3043C=
c.2704-17C= (n.2704-17C=)
c.1750-17C= (n.1750-17C=)
c.661-14C= (n.661-14C=)
c.212-23C=
c.2704-14C= (n.2704-14C=)
c.2686-14C= (n.2686-14C=)
c.2524-14C= (n.2524-14C=)
c.2632-14C= (n.2632-14C=)
c.2614-14C= (n.2614-14C=)
c.2338-14C= (n.2338-14C=)
n.2916-17C=
c.2506-14C= (n.2506-14C=)
c.2320-14C= (n.2320-14C=)
n.2916-14C=
c.2614-17C= (n.2614-17C=)
c.2686-23C= (n.2686-23C=)
c.2617-17C= (n.2617-17C=)
c.2632-17C= (n.2632-17C=)
c.2497-17C= (n.2497-17C=)
16g.28835532C>GCA2632528779ATXN2Lc.2686-17C>G (n.2686-17C>G)
c.661-17C>G (n.661-17C>G)
n.3043C>G
c.2704-17C>G (n.2704-17C>G)
c.1750-17C>G (n.1750-17C>G)
c.661-14C>G (n.661-14C>G)
c.212-23C>G
c.2704-14C>G (n.2704-14C>G)
c.2686-14C>G (n.2686-14C>G)
c.2524-14C>G (n.2524-14C>G)
c.2632-14C>G (n.2632-14C>G)
c.2614-14C>G (n.2614-14C>G)
c.2338-14C>G (n.2338-14C>G)
n.2916-17C>G
c.2506-14C>G (n.2506-14C>G)
c.2320-14C>G (n.2320-14C>G)
n.2916-14C>G
c.2614-17C>G (n.2614-17C>G)
c.2686-23C>G (n.2686-23C>G)
c.2617-17C>G (n.2617-17C>G)
c.2632-17C>G (n.2632-17C>G)
c.2497-17C>G (n.2497-17C>G)
 gnomAD v4
16g.28835532C>TCA279230729ATXN2Lc.2686-17C>T (n.2686-17C>T)
c.661-17C>T (n.661-17C>T)
n.3043C>T
c.2704-17C>T (n.2704-17C>T)
c.1750-17C>T (n.1750-17C>T)
c.661-14C>T (n.661-14C>T)
c.212-23C>T
c.2704-14C>T (n.2704-14C>T)
c.2686-14C>T (n.2686-14C>T)
c.2524-14C>T (n.2524-14C>T)
c.2632-14C>T (n.2632-14C>T)
c.2614-14C>T (n.2614-14C>T)
c.2338-14C>T (n.2338-14C>T)
n.2916-17C>T
c.2506-14C>T (n.2506-14C>T)
c.2320-14C>T (n.2320-14C>T)
n.2916-14C>T
c.2614-17C>T (n.2614-17C>T)
c.2686-23C>T (n.2686-23C>T)
c.2617-17C>T (n.2617-17C>T)
c.2632-17C>T (n.2632-17C>T)
c.2497-17C>T (n.2497-17C>T)
 dbSNP gnomAD v4
16g.28835534T>CCA2632528781ATXN2Lc.2686-15T>C (n.2686-15T>C)
c.661-15T>C (n.661-15T>C)
n.3045T>C
c.2704-15T>C (n.2704-15T>C)
c.1750-15T>C (n.1750-15T>C)
c.661-12T>C (n.661-12T>C)
c.212-21T>C
c.2704-12T>C (n.2704-12T>C)
c.2686-12T>C (n.2686-12T>C)
c.2524-12T>C (n.2524-12T>C)
c.2632-12T>C (n.2632-12T>C)
c.2614-12T>C (n.2614-12T>C)
c.2338-12T>C (n.2338-12T>C)
n.2916-15T>C
c.2506-12T>C (n.2506-12T>C)
c.2320-12T>C (n.2320-12T>C)
n.2916-12T>C
c.2614-15T>C (n.2614-15T>C)
c.2686-21T>C (n.2686-21T>C)
c.2617-15T>C (n.2617-15T>C)
c.2632-15T>C (n.2632-15T>C)
c.2497-15T>C (n.2497-15T>C)
 gnomAD v4
16g.28835535C>ACA2632528782ATXN2Lc.2686-14C>A (n.2686-14C>A)
c.661-14C>A (n.661-14C>A)
n.3046C>A
c.2704-14C>A (n.2704-14C>A)
c.1750-14C>A (n.1750-14C>A)
c.661-11C>A (n.661-11C>A)
c.212-20C>A
c.2704-11C>A (n.2704-11C>A)
c.2686-11C>A (n.2686-11C>A)
c.2524-11C>A (n.2524-11C>A)
c.2632-11C>A (n.2632-11C>A)
c.2614-11C>A (n.2614-11C>A)
c.2338-11C>A (n.2338-11C>A)
n.2916-14C>A
c.2506-11C>A (n.2506-11C>A)
c.2320-11C>A (n.2320-11C>A)
n.2916-11C>A
c.2614-14C>A (n.2614-14C>A)
c.2686-20C>A (n.2686-20C>A)
c.2617-14C>A (n.2617-14C>A)
c.2632-14C>A (n.2632-14C>A)
c.2497-14C>A (n.2497-14C>A)
 gnomAD v4
16g.28835536C=CA2215806248ATXN2Lc.2686-13C= (n.2686-13C=)
c.661-13C= (n.661-13C=)
n.3047C=
c.2704-13C= (n.2704-13C=)
c.1750-13C= (n.1750-13C=)
c.661-10C= (n.661-10C=)
c.212-19C=
c.2704-10C= (n.2704-10C=)
c.2686-10C= (n.2686-10C=)
c.2524-10C= (n.2524-10C=)
c.2632-10C= (n.2632-10C=)
c.2614-10C= (n.2614-10C=)
c.2338-10C= (n.2338-10C=)
n.2916-13C=
c.2506-10C= (n.2506-10C=)
c.2320-10C= (n.2320-10C=)
n.2916-10C=
c.2614-13C= (n.2614-13C=)
c.2686-19C= (n.2686-19C=)
c.2617-13C= (n.2617-13C=)
c.2632-13C= (n.2632-13C=)
c.2497-13C= (n.2497-13C=)
16g.28835536C>TCA2215806247ATXN2Lc.2686-13C>T (n.2686-13C>T)
c.661-13C>T (n.661-13C>T)
n.3047C>T
c.2704-13C>T (n.2704-13C>T)
c.1750-13C>T (n.1750-13C>T)
c.661-10C>T (n.661-10C>T)
c.212-19C>T
c.2704-10C>T (n.2704-10C>T)
c.2686-10C>T (n.2686-10C>T)
c.2524-10C>T (n.2524-10C>T)
c.2632-10C>T (n.2632-10C>T)
c.2614-10C>T (n.2614-10C>T)
c.2338-10C>T (n.2338-10C>T)
n.2916-13C>T
c.2506-10C>T (n.2506-10C>T)
c.2320-10C>T (n.2320-10C>T)
n.2916-10C>T
c.2614-13C>T (n.2614-13C>T)
c.2686-19C>T (n.2686-19C>T)
c.2617-13C>T (n.2617-13C>T)
c.2632-13C>T (n.2632-13C>T)
c.2497-13C>T (n.2497-13C>T)
 dbSNP
16g.28835537C=CA2215806251ATXN2Lc.2686-12C= (n.2686-12C=)
c.661-12C= (n.661-12C=)
n.3048C=
c.2704-12C= (n.2704-12C=)
c.1750-12C= (n.1750-12C=)
c.661-9C= (n.661-9C=)
c.212-18C=
c.2704-9C= (n.2704-9C=)
c.2686-9C= (n.2686-9C=)
c.2524-9C= (n.2524-9C=)
c.2632-9C= (n.2632-9C=)
c.2614-9C= (n.2614-9C=)
c.2338-9C= (n.2338-9C=)
n.2916-12C=
c.2506-9C= (n.2506-9C=)
c.2320-9C= (n.2320-9C=)
n.2916-9C=
c.2614-12C= (n.2614-12C=)
c.2686-18C= (n.2686-18C=)
c.2617-12C= (n.2617-12C=)
c.2632-12C= (n.2632-12C=)
c.2497-12C= (n.2497-12C=)
16g.28835537C>GCA7985070ATXN2Lc.2686-12C>G (n.2686-12C>G)
c.661-12C>G (n.661-12C>G)
n.3048C>G
c.2704-12C>G (n.2704-12C>G)
c.1750-12C>G (n.1750-12C>G)
c.661-9C>G (n.661-9C>G)
c.212-18C>G
c.2704-9C>G (n.2704-9C>G)
c.2686-9C>G (n.2686-9C>G)
c.2524-9C>G (n.2524-9C>G)
c.2632-9C>G (n.2632-9C>G)
c.2614-9C>G (n.2614-9C>G)
c.2338-9C>G (n.2338-9C>G)
n.2916-12C>G
c.2506-9C>G (n.2506-9C>G)
c.2320-9C>G (n.2320-9C>G)
n.2916-9C>G
c.2614-12C>G (n.2614-12C>G)
c.2686-18C>G (n.2686-18C>G)
c.2617-12C>G (n.2617-12C>G)
c.2632-12C>G (n.2632-12C>G)
c.2497-12C>G (n.2497-12C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835537C>TCA7985071ATXN2Lc.2686-12C>T (n.2686-12C>T)
c.661-12C>T (n.661-12C>T)
n.3048C>T
c.2704-12C>T (n.2704-12C>T)
c.1750-12C>T (n.1750-12C>T)
c.661-9C>T (n.661-9C>T)
c.212-18C>T
c.2704-9C>T (n.2704-9C>T)
c.2686-9C>T (n.2686-9C>T)
c.2524-9C>T (n.2524-9C>T)
c.2632-9C>T (n.2632-9C>T)
c.2614-9C>T (n.2614-9C>T)
c.2338-9C>T (n.2338-9C>T)
n.2916-12C>T
c.2506-9C>T (n.2506-9C>T)
c.2320-9C>T (n.2320-9C>T)
n.2916-9C>T
c.2614-12C>T (n.2614-12C>T)
c.2686-18C>T (n.2686-18C>T)
c.2617-12C>T (n.2617-12C>T)
c.2632-12C>T (n.2632-12C>T)
c.2497-12C>T (n.2497-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835538C>ACA2806421849ATXN2Lc.2686-11C>A (n.2686-11C>A)
c.661-11C>A (n.661-11C>A)
n.3049C>A
c.2704-11C>A (n.2704-11C>A)
c.1750-11C>A (n.1750-11C>A)
c.661-8C>A (n.661-8C>A)
c.212-17C>A
c.2704-8C>A (n.2704-8C>A)
c.2686-8C>A (n.2686-8C>A)
c.2524-8C>A (n.2524-8C>A)
c.2632-8C>A (n.2632-8C>A)
c.2614-8C>A (n.2614-8C>A)
c.2338-8C>A (n.2338-8C>A)
n.2916-11C>A
c.2506-8C>A (n.2506-8C>A)
c.2320-8C>A (n.2320-8C>A)
n.2916-8C>A
c.2614-11C>A (n.2614-11C>A)
c.2686-17C>A (n.2686-17C>A)
c.2617-11C>A (n.2617-11C>A)
c.2632-11C>A (n.2632-11C>A)
c.2497-11C>A (n.2497-11C>A)
16g.28835538C=CA2215806252ATXN2Lc.2686-11C= (n.2686-11C=)
c.661-11C= (n.661-11C=)
n.3049C=
c.2704-11C= (n.2704-11C=)
c.1750-11C= (n.1750-11C=)
c.661-8C= (n.661-8C=)
c.212-17C=
c.2704-8C= (n.2704-8C=)
c.2686-8C= (n.2686-8C=)
c.2524-8C= (n.2524-8C=)
c.2632-8C= (n.2632-8C=)
c.2614-8C= (n.2614-8C=)
c.2338-8C= (n.2338-8C=)
n.2916-11C=
c.2506-8C= (n.2506-8C=)
c.2320-8C= (n.2320-8C=)
n.2916-8C=
c.2614-11C= (n.2614-11C=)
c.2686-17C= (n.2686-17C=)
c.2617-11C= (n.2617-11C=)
c.2632-11C= (n.2632-11C=)
c.2497-11C= (n.2497-11C=)
16g.28835538C>GCA622161901ATXN2Lc.2686-11C>G (n.2686-11C>G)
c.661-11C>G (n.661-11C>G)
n.3049C>G
c.2704-11C>G (n.2704-11C>G)
c.1750-11C>G (n.1750-11C>G)
c.661-8C>G (n.661-8C>G)
c.212-17C>G
c.2704-8C>G (n.2704-8C>G)
c.2686-8C>G (n.2686-8C>G)
c.2524-8C>G (n.2524-8C>G)
c.2632-8C>G (n.2632-8C>G)
c.2614-8C>G (n.2614-8C>G)
c.2338-8C>G (n.2338-8C>G)
n.2916-11C>G
c.2506-8C>G (n.2506-8C>G)
c.2320-8C>G (n.2320-8C>G)
n.2916-8C>G
c.2614-11C>G (n.2614-11C>G)
c.2686-17C>G (n.2686-17C>G)
c.2617-11C>G (n.2617-11C>G)
c.2632-11C>G (n.2632-11C>G)
c.2497-11C>G (n.2497-11C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835540C>ACA2632528783ATXN2Lc.2686-9C>A (n.2686-9C>A)
c.661-9C>A (n.661-9C>A)
n.3051C>A
c.2704-9C>A (n.2704-9C>A)
c.1750-9C>A (n.1750-9C>A)
c.661-6C>A (n.661-6C>A)
c.212-15C>A
c.2704-6C>A (n.2704-6C>A)
c.2686-6C>A (n.2686-6C>A)
c.2524-6C>A (n.2524-6C>A)
c.2632-6C>A (n.2632-6C>A)
c.2614-6C>A (n.2614-6C>A)
c.2338-6C>A (n.2338-6C>A)
n.2916-9C>A
c.2506-6C>A (n.2506-6C>A)
c.2320-6C>A (n.2320-6C>A)
n.2916-6C>A
c.2614-9C>A (n.2614-9C>A)
c.2686-15C>A (n.2686-15C>A)
c.2617-9C>A (n.2617-9C>A)
c.2632-9C>A (n.2632-9C>A)
c.2497-9C>A (n.2497-9C>A)
 gnomAD v4
16g.28835540C>TCA2632528784ATXN2Lc.2686-9C>T (n.2686-9C>T)
c.661-9C>T (n.661-9C>T)
n.3051C>T
c.2704-9C>T (n.2704-9C>T)
c.1750-9C>T (n.1750-9C>T)
c.661-6C>T (n.661-6C>T)
c.212-15C>T
c.2704-6C>T (n.2704-6C>T)
c.2686-6C>T (n.2686-6C>T)
c.2524-6C>T (n.2524-6C>T)
c.2632-6C>T (n.2632-6C>T)
c.2614-6C>T (n.2614-6C>T)
c.2338-6C>T (n.2338-6C>T)
n.2916-9C>T
c.2506-6C>T (n.2506-6C>T)
c.2320-6C>T (n.2320-6C>T)
n.2916-6C>T
c.2614-9C>T (n.2614-9C>T)
c.2686-15C>T (n.2686-15C>T)
c.2617-9C>T (n.2617-9C>T)
c.2632-9C>T (n.2632-9C>T)
c.2497-9C>T (n.2497-9C>T)
 gnomAD v4
16g.28835540_28835544delCA2518861033ATXN2Lc.2686-9_2686-5del (n.2686-9_2686-5del)
c.661-9_661-5del (n.661-9_661-5del)
n.3051_3055del
c.2704-9_2704-5del (n.2704-9_2704-5del)
c.1750-9_1750-5del (n.1750-9_1750-5del)
c.661-6_661-2del (n.661-6_661-2del)
c.212-15_212-11del
c.2704-6_2704-2del (n.2704-6_2704-2del)
c.2686-6_2686-2del (n.2686-6_2686-2del)
c.2524-6_2524-2del (n.2524-6_2524-2del)
c.2632-6_2632-2del (n.2632-6_2632-2del)
c.2614-6_2614-2del (n.2614-6_2614-2del)
c.2338-6_2338-2del (n.2338-6_2338-2del)
n.2916-9_2916-5del
c.2506-6_2506-2del (n.2506-6_2506-2del)
c.2320-6_2320-2del (n.2320-6_2320-2del)
n.2916-6_2916-2del
c.2614-9_2614-5del (n.2614-9_2614-5del)
c.2686-15_2686-11del (n.2686-15_2686-11del)
c.2617-9_2617-5del (n.2617-9_2617-5del)
c.2632-9_2632-5del (n.2632-9_2632-5del)
c.2497-9_2497-5del (n.2497-9_2497-5del)
16g.28835541C>ACA7985072ATXN2Lc.2686-8C>A (n.2686-8C>A)
c.661-8C>A (n.661-8C>A)
n.3052C>A
c.2704-8C>A (n.2704-8C>A)
c.1750-8C>A (n.1750-8C>A)
c.661-5C>A (n.661-5C>A)
c.212-14C>A
c.2704-5C>A (n.2704-5C>A)
c.2686-5C>A (n.2686-5C>A)
c.2524-5C>A (n.2524-5C>A)
c.2632-5C>A (n.2632-5C>A)
c.2614-5C>A (n.2614-5C>A)
c.2338-5C>A (n.2338-5C>A)
n.2916-8C>A
c.2506-5C>A (n.2506-5C>A)
c.2320-5C>A (n.2320-5C>A)
n.2916-5C>A
c.2614-8C>A (n.2614-8C>A)
c.2686-14C>A (n.2686-14C>A)
c.2617-8C>A (n.2617-8C>A)
c.2632-8C>A (n.2632-8C>A)
c.2497-8C>A (n.2497-8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835541C=CA2215806255ATXN2Lc.2686-8C= (n.2686-8C=)
c.661-8C= (n.661-8C=)
n.3052C=
c.2704-8C= (n.2704-8C=)
c.1750-8C= (n.1750-8C=)
c.661-5C= (n.661-5C=)
c.212-14C=
c.2704-5C= (n.2704-5C=)
c.2686-5C= (n.2686-5C=)
c.2524-5C= (n.2524-5C=)
c.2632-5C= (n.2632-5C=)
c.2614-5C= (n.2614-5C=)
c.2338-5C= (n.2338-5C=)
n.2916-8C=
c.2506-5C= (n.2506-5C=)
c.2320-5C= (n.2320-5C=)
n.2916-5C=
c.2614-8C= (n.2614-8C=)
c.2686-14C= (n.2686-14C=)
c.2617-8C= (n.2617-8C=)
c.2632-8C= (n.2632-8C=)
c.2497-8C= (n.2497-8C=)
16g.28835541C>TCA2215806256ATXN2Lc.2686-8C>T (n.2686-8C>T)
c.661-8C>T (n.661-8C>T)
n.3052C>T
c.2704-8C>T (n.2704-8C>T)
c.1750-8C>T (n.1750-8C>T)
c.661-5C>T (n.661-5C>T)
c.212-14C>T
c.2704-5C>T (n.2704-5C>T)
c.2686-5C>T (n.2686-5C>T)
c.2524-5C>T (n.2524-5C>T)
c.2632-5C>T (n.2632-5C>T)
c.2614-5C>T (n.2614-5C>T)
c.2338-5C>T (n.2338-5C>T)
n.2916-8C>T
c.2506-5C>T (n.2506-5C>T)
c.2320-5C>T (n.2320-5C>T)
n.2916-5C>T
c.2614-8C>T (n.2614-8C>T)
c.2686-14C>T (n.2686-14C>T)
c.2617-8C>T (n.2617-8C>T)
c.2632-8C>T (n.2632-8C>T)
c.2497-8C>T (n.2497-8C>T)
 dbSNP gnomAD v4
16g.28835542C=CA2215806257ATXN2Lc.2686-7C= (n.2686-7C=)
c.661-7C= (n.661-7C=)
n.3053C=
c.2704-7C= (n.2704-7C=)
c.1750-7C= (n.1750-7C=)
c.661-4C= (n.661-4C=)
c.212-13C=
c.2704-4C= (n.2704-4C=)
c.2686-4C= (n.2686-4C=)
c.2524-4C= (n.2524-4C=)
c.2632-4C= (n.2632-4C=)
c.2614-4C= (n.2614-4C=)
c.2338-4C= (n.2338-4C=)
n.2916-7C=
c.2506-4C= (n.2506-4C=)
c.2320-4C= (n.2320-4C=)
n.2916-4C=
c.2614-7C= (n.2614-7C=)
c.2686-13C= (n.2686-13C=)
c.2617-7C= (n.2617-7C=)
c.2632-7C= (n.2632-7C=)
c.2497-7C= (n.2497-7C=)
16g.28835542C>GCA7985073ATXN2Lc.2686-7C>G (n.2686-7C>G)
c.661-7C>G (n.661-7C>G)
n.3053C>G
c.2704-7C>G (n.2704-7C>G)
c.1750-7C>G (n.1750-7C>G)
c.661-4C>G (n.661-4C>G)
c.212-13C>G
c.2704-4C>G (n.2704-4C>G)
c.2686-4C>G (n.2686-4C>G)
c.2524-4C>G (n.2524-4C>G)
c.2632-4C>G (n.2632-4C>G)
c.2614-4C>G (n.2614-4C>G)
c.2338-4C>G (n.2338-4C>G)
n.2916-7C>G
c.2506-4C>G (n.2506-4C>G)
c.2320-4C>G (n.2320-4C>G)
n.2916-4C>G
c.2614-7C>G (n.2614-7C>G)
c.2686-13C>G (n.2686-13C>G)
c.2617-7C>G (n.2617-7C>G)
c.2632-7C>G (n.2632-7C>G)
c.2497-7C>G (n.2497-7C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835542C>TCA2575959509ATXN2Lc.2686-7C>T (n.2686-7C>T)
c.661-7C>T (n.661-7C>T)
n.3053C>T
c.2704-7C>T (n.2704-7C>T)
c.1750-7C>T (n.1750-7C>T)
c.661-4C>T (n.661-4C>T)
c.212-13C>T
c.2704-4C>T (n.2704-4C>T)
c.2686-4C>T (n.2686-4C>T)
c.2524-4C>T (n.2524-4C>T)
c.2632-4C>T (n.2632-4C>T)
c.2614-4C>T (n.2614-4C>T)
c.2338-4C>T (n.2338-4C>T)
n.2916-7C>T
c.2506-4C>T (n.2506-4C>T)
c.2320-4C>T (n.2320-4C>T)
n.2916-4C>T
c.2614-7C>T (n.2614-7C>T)
c.2686-13C>T (n.2686-13C>T)
c.2617-7C>T (n.2617-7C>T)
c.2632-7C>T (n.2632-7C>T)
c.2497-7C>T (n.2497-7C>T)
 dbSNP gnomAD v4
16g.28835543C>TCA2575959510ATXN2Lc.2686-6C>T (n.2686-6C>T)
c.661-6C>T (n.661-6C>T)
n.3054C>T
c.2704-6C>T (n.2704-6C>T)
c.1750-6C>T (n.1750-6C>T)
c.661-3C>T (n.661-3C>T)
c.212-12C>T
c.2704-3C>T (n.2704-3C>T)
c.2686-3C>T (n.2686-3C>T)
c.2524-3C>T (n.2524-3C>T)
c.2632-3C>T (n.2632-3C>T)
c.2614-3C>T (n.2614-3C>T)
c.2338-3C>T (n.2338-3C>T)
n.2916-6C>T
c.2506-3C>T (n.2506-3C>T)
c.2320-3C>T (n.2320-3C>T)
n.2916-3C>T
c.2614-6C>T (n.2614-6C>T)
c.2686-12C>T (n.2686-12C>T)
c.2617-6C>T (n.2617-6C>T)
c.2632-6C>T (n.2632-6C>T)
c.2497-6C>T (n.2497-6C>T)
 gnomAD v4
16g.28835544A>CCA395407892ATXN2Lc.2686-5A>C (n.2686-5A>C)
c.661-5A>C (n.661-5A>C)
n.3055A>C
c.2704-5A>C (n.2704-5A>C)
c.1750-5A>C (n.1750-5A>C)
c.661-2A>C (n.661-2A>C)
c.212-11A>C
c.2704-2A>C (n.2704-2A>C)
c.2686-2A>C (n.2686-2A>C)
c.2524-2A>C (n.2524-2A>C)
c.2632-2A>C (n.2632-2A>C)
c.2614-2A>C (n.2614-2A>C)
c.2338-2A>C (n.2338-2A>C)
n.2916-5A>C
c.2506-2A>C (n.2506-2A>C)
c.2320-2A>C (n.2320-2A>C)
n.2916-2A>C
c.2614-5A>C (n.2614-5A>C)
c.2686-11A>C (n.2686-11A>C)
c.2617-5A>C (n.2617-5A>C)
c.2632-5A>C (n.2632-5A>C)
c.2497-5A>C (n.2497-5A>C)
16g.28835544A>GCA395407894ATXN2Lc.2686-5A>G (n.2686-5A>G)
c.661-5A>G (n.661-5A>G)
n.3055A>G
c.2704-5A>G (n.2704-5A>G)
c.1750-5A>G (n.1750-5A>G)
c.661-2A>G (n.661-2A>G)
c.212-11A>G
c.2704-2A>G (n.2704-2A>G)
c.2686-2A>G (n.2686-2A>G)
c.2524-2A>G (n.2524-2A>G)
c.2632-2A>G (n.2632-2A>G)
c.2614-2A>G (n.2614-2A>G)
c.2338-2A>G (n.2338-2A>G)
n.2916-5A>G
c.2506-2A>G (n.2506-2A>G)
c.2320-2A>G (n.2320-2A>G)
n.2916-2A>G
c.2614-5A>G (n.2614-5A>G)
c.2686-11A>G (n.2686-11A>G)
c.2617-5A>G (n.2617-5A>G)
c.2632-5A>G (n.2632-5A>G)
c.2497-5A>G (n.2497-5A>G)
 gnomAD v4
16g.28835544A>TCA395407896ATXN2Lc.2686-5A>T (n.2686-5A>T)
c.661-5A>T (n.661-5A>T)
n.3055A>T
c.2704-5A>T (n.2704-5A>T)
c.1750-5A>T (n.1750-5A>T)
c.661-2A>T (n.661-2A>T)
c.212-11A>T
c.2704-2A>T (n.2704-2A>T)
c.2686-2A>T (n.2686-2A>T)
c.2524-2A>T (n.2524-2A>T)
c.2632-2A>T (n.2632-2A>T)
c.2614-2A>T (n.2614-2A>T)
c.2338-2A>T (n.2338-2A>T)
n.2916-5A>T
c.2506-2A>T (n.2506-2A>T)
c.2320-2A>T (n.2320-2A>T)
n.2916-2A>T
c.2614-5A>T (n.2614-5A>T)
c.2686-11A>T (n.2686-11A>T)
c.2617-5A>T (n.2617-5A>T)
c.2632-5A>T (n.2632-5A>T)
c.2497-5A>T (n.2497-5A>T)
16g.28835545G>ACA7985074ATXN2Lc.2686-4G>A (n.2686-4G>A)
c.661-4G>A (n.661-4G>A)
n.3056G>A
c.2704-4G>A (n.2704-4G>A)
c.1750-4G>A (n.1750-4G>A)
c.661-1G>A (n.661-1G>A)
c.212-10G>A
c.2704-1G>A (n.2704-1G>A)
c.2686-1G>A (n.2686-1G>A)
c.2524-1G>A (n.2524-1G>A)
c.2632-1G>A (n.2632-1G>A)
c.2614-1G>A (n.2614-1G>A)
c.2338-1G>A (n.2338-1G>A)
n.2916-4G>A
c.2506-1G>A (n.2506-1G>A)
c.2320-1G>A (n.2320-1G>A)
n.2916-1G>A
c.2614-4G>A (n.2614-4G>A)
c.2686-10G>A (n.2686-10G>A)
c.2617-4G>A (n.2617-4G>A)
c.2632-4G>A (n.2632-4G>A)
c.2497-4G>A (n.2497-4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835545G>CCA395407899ATXN2Lc.2686-4G>C (n.2686-4G>C)
c.661-4G>C (n.661-4G>C)
n.3056G>C
c.2704-4G>C (n.2704-4G>C)
c.1750-4G>C (n.1750-4G>C)
c.661-1G>C (n.661-1G>C)
c.212-10G>C
c.2704-1G>C (n.2704-1G>C)
c.2686-1G>C (n.2686-1G>C)
c.2524-1G>C (n.2524-1G>C)
c.2632-1G>C (n.2632-1G>C)
c.2614-1G>C (n.2614-1G>C)
c.2338-1G>C (n.2338-1G>C)
n.2916-4G>C
c.2506-1G>C (n.2506-1G>C)
c.2320-1G>C (n.2320-1G>C)
n.2916-1G>C
c.2614-4G>C (n.2614-4G>C)
c.2686-10G>C (n.2686-10G>C)
c.2617-4G>C (n.2617-4G>C)
c.2632-4G>C (n.2632-4G>C)
c.2497-4G>C (n.2497-4G>C)
16g.28835545G=CA2215806261ATXN2Lc.2686-4G= (n.2686-4G=)
c.661-4G= (n.661-4G=)
n.3056G=
c.2704-4G= (n.2704-4G=)
c.1750-4G= (n.1750-4G=)
c.661-1G= (n.661-1G=)
c.212-10G=
c.2704-1G= (n.2704-1G=)
c.2686-1G= (n.2686-1G=)
c.2524-1G= (n.2524-1G=)
c.2632-1G= (n.2632-1G=)
c.2614-1G= (n.2614-1G=)
c.2338-1G= (n.2338-1G=)
n.2916-4G=
c.2506-1G= (n.2506-1G=)
c.2320-1G= (n.2320-1G=)
n.2916-1G=
c.2614-4G= (n.2614-4G=)
c.2686-10G= (n.2686-10G=)
c.2617-4G= (n.2617-4G=)
c.2632-4G= (n.2632-4G=)
c.2497-4G= (n.2497-4G=)
16g.28835545G>TCA395407898ATXN2Lc.2686-4G>T (n.2686-4G>T)
c.661-4G>T (n.661-4G>T)
n.3056G>T
c.2704-4G>T (n.2704-4G>T)
c.1750-4G>T (n.1750-4G>T)
c.661-1G>T (n.661-1G>T)
c.212-10G>T
c.2704-1G>T (n.2704-1G>T)
c.2686-1G>T (n.2686-1G>T)
c.2524-1G>T (n.2524-1G>T)
c.2632-1G>T (n.2632-1G>T)
c.2614-1G>T (n.2614-1G>T)
c.2338-1G>T (n.2338-1G>T)
n.2916-4G>T
c.2506-1G>T (n.2506-1G>T)
c.2320-1G>T (n.2320-1G>T)
n.2916-1G>T
c.2614-4G>T (n.2614-4G>T)
c.2686-10G>T (n.2686-10G>T)
c.2617-4G>T (n.2617-4G>T)
c.2632-4G>T (n.2632-4G>T)
c.2497-4G>T (n.2497-4G>T)
16g.28835546C>ACA395407903ATXN2Lc.2686-3C>A (n.2686-3C>A)
c.661-3C>A (n.661-3C>A)
n.3057C>A
c.2704-3C>A (n.2704-3C>A)
c.1750-3C>A (n.1750-3C>A)
c.661C>A (p.Gln221Lys)
c.212-9C>A
c.2704C>A (p.Gln902Lys)
c.2686C>A (p.Gln896Lys)
c.2524C>A (p.Gln842Lys)
c.2632C>A (p.Gln878Lys)
c.2614C>A (p.Gln872Lys)
c.2338C>A (p.Gln780Lys)
n.2916-3C>A
c.2506C>A (p.Gln836Lys)
c.2320C>A (p.Gln774Lys)
n.2916C>A
c.2614-3C>A (n.2614-3C>A)
c.2686-9C>A (n.2686-9C>A)
c.2617-3C>A (n.2617-3C>A)
c.2632-3C>A (n.2632-3C>A)
c.2497-3C>A (n.2497-3C>A)
16g.28835546C>GCA395407905ATXN2Lc.2686-3C>G (n.2686-3C>G)
c.661-3C>G (n.661-3C>G)
n.3057C>G
c.2704-3C>G (n.2704-3C>G)
c.1750-3C>G (n.1750-3C>G)
c.661C>G (p.Gln221Glu)
c.212-9C>G
c.2704C>G (p.Gln902Glu)
c.2686C>G (p.Gln896Glu)
c.2524C>G (p.Gln842Glu)
c.2632C>G (p.Gln878Glu)
c.2614C>G (p.Gln872Glu)
c.2338C>G (p.Gln780Glu)
n.2916-3C>G
c.2506C>G (p.Gln836Glu)
c.2320C>G (p.Gln774Glu)
n.2916C>G
c.2614-3C>G (n.2614-3C>G)
c.2686-9C>G (n.2686-9C>G)
c.2617-3C>G (n.2617-3C>G)
c.2632-3C>G (n.2632-3C>G)
c.2497-3C>G (n.2497-3C>G)
16g.28835546C>TCA395407907ATXN2Lc.2686-3C>T (n.2686-3C>T)
c.661-3C>T (n.661-3C>T)
n.3057C>T
c.2704-3C>T (n.2704-3C>T)
c.1750-3C>T (n.1750-3C>T)
c.661C>T (p.Gln221Ter)
c.212-9C>T
c.2704C>T (p.Gln902Ter)
c.2686C>T (p.Gln896Ter)
c.2524C>T (p.Gln842Ter)
c.2632C>T (p.Gln878Ter)
c.2614C>T (p.Gln872Ter)
c.2338C>T (p.Gln780Ter)
n.2916-3C>T
c.2506C>T (p.Gln836Ter)
c.2320C>T (p.Gln774Ter)
n.2916C>T
c.2614-3C>T (n.2614-3C>T)
c.2686-9C>T (n.2686-9C>T)
c.2617-3C>T (n.2617-3C>T)
c.2632-3C>T (n.2632-3C>T)
c.2497-3C>T (n.2497-3C>T)
16g.28835547A>CCA395407909ATXN2Lc.2686-2A>C (n.2686-2A>C)
c.661-2A>C (n.661-2A>C)
n.3058A>C
c.2704-2A>C (n.2704-2A>C)
c.1750-2A>C (n.1750-2A>C)
c.662A>C (p.Gln221Pro)
c.212-8A>C
c.2705A>C (p.Gln902Pro)
c.2687A>C (p.Gln896Pro)
c.2525A>C (p.Gln842Pro)
c.2633A>C (p.Gln878Pro)
c.2615A>C (p.Gln872Pro)
c.2339A>C (p.Gln780Pro)
n.2916-2A>C
c.2507A>C (p.Gln836Pro)
c.2321A>C (p.Gln774Pro)
n.2917A>C
c.2614-2A>C (n.2614-2A>C)
c.2686-8A>C (n.2686-8A>C)
c.2617-2A>C (n.2617-2A>C)
c.2632-2A>C (n.2632-2A>C)
c.2497-2A>C (n.2497-2A>C)
16g.28835547A>GCA395407911ATXN2Lc.2686-2A>G (n.2686-2A>G)
c.661-2A>G (n.661-2A>G)
n.3058A>G
c.2704-2A>G (n.2704-2A>G)
c.1750-2A>G (n.1750-2A>G)
c.662A>G (p.Gln221Arg)
c.212-8A>G
c.2705A>G (p.Gln902Arg)
c.2687A>G (p.Gln896Arg)
c.2525A>G (p.Gln842Arg)
c.2633A>G (p.Gln878Arg)
c.2615A>G (p.Gln872Arg)
c.2339A>G (p.Gln780Arg)
n.2916-2A>G
c.2507A>G (p.Gln836Arg)
c.2321A>G (p.Gln774Arg)
n.2917A>G
c.2614-2A>G (n.2614-2A>G)
c.2686-8A>G (n.2686-8A>G)
c.2617-2A>G (n.2617-2A>G)
c.2632-2A>G (n.2632-2A>G)
c.2497-2A>G (n.2497-2A>G)
16g.28835547A>TCA395407913ATXN2Lc.2686-2A>T (n.2686-2A>T)
c.661-2A>T (n.661-2A>T)
n.3058A>T
c.2704-2A>T (n.2704-2A>T)
c.1750-2A>T (n.1750-2A>T)
c.662A>T (p.Gln221Leu)
c.212-8A>T
c.2705A>T (p.Gln902Leu)
c.2687A>T (p.Gln896Leu)
c.2525A>T (p.Gln842Leu)
c.2633A>T (p.Gln878Leu)
c.2615A>T (p.Gln872Leu)
c.2339A>T (p.Gln780Leu)
n.2916-2A>T
c.2507A>T (p.Gln836Leu)
c.2321A>T (p.Gln774Leu)
n.2917A>T
c.2614-2A>T (n.2614-2A>T)
c.2686-8A>T (n.2686-8A>T)
c.2617-2A>T (n.2617-2A>T)
c.2632-2A>T (n.2632-2A>T)
c.2497-2A>T (n.2497-2A>T)
16g.28835548G>ACA395407919ATXN2Lc.2686-1G>A (n.2686-1G>A)
c.661-1G>A (n.661-1G>A)
n.3059G>A
c.2704-1G>A (n.2704-1G>A)
c.1750-1G>A (n.1750-1G>A)
c.663G>A (p.Gln221=)
c.212-7G>A
c.2706G>A (p.Gln902=)
c.2688G>A (p.Gln896=)
c.2526G>A (p.Gln842=)
c.2634G>A (p.Gln878=)
c.2616G>A (p.Gln872=)
c.2340G>A (p.Gln780=)
n.2916-1G>A
c.2508G>A (p.Gln836=)
c.2322G>A (p.Gln774=)
n.2918G>A
c.2614-1G>A (n.2614-1G>A)
c.2686-7G>A (n.2686-7G>A)
c.2617-1G>A (n.2617-1G>A)
c.2632-1G>A (n.2632-1G>A)
c.2497-1G>A (n.2497-1G>A)
 dbSNP gnomAD v2
16g.28835548G>CCA395407915ATXN2Lc.2686-1G>C (n.2686-1G>C)
c.661-1G>C (n.661-1G>C)
n.3059G>C
c.2704-1G>C (n.2704-1G>C)
c.1750-1G>C (n.1750-1G>C)
c.663G>C (p.Gln221His)
c.212-7G>C
c.2706G>C (p.Gln902His)
c.2688G>C (p.Gln896His)
c.2526G>C (p.Gln842His)
c.2634G>C (p.Gln878His)
c.2616G>C (p.Gln872His)
c.2340G>C (p.Gln780His)
n.2916-1G>C
c.2508G>C (p.Gln836His)
c.2322G>C (p.Gln774His)
n.2918G>C
c.2614-1G>C (n.2614-1G>C)
c.2686-7G>C (n.2686-7G>C)
c.2617-1G>C (n.2617-1G>C)
c.2632-1G>C (n.2632-1G>C)
c.2497-1G>C (n.2497-1G>C)
16g.28835548G=CA2215806265ATXN2Lc.2686-1G= (n.2686-1G=)
c.661-1G= (n.661-1G=)
n.3059G=
c.2704-1G= (n.2704-1G=)
c.1750-1G= (n.1750-1G=)
c.663G= (p.Gln221=)
c.212-7G=
c.2706G= (p.Gln902=)
c.2688G= (p.Gln896=)
c.2526G= (p.Gln842=)
c.2634G= (p.Gln878=)
c.2616G= (p.Gln872=)
c.2340G= (p.Gln780=)
n.2916-1G=
c.2508G= (p.Gln836=)
c.2322G= (p.Gln774=)
n.2918G=
c.2614-1G= (n.2614-1G=)
c.2686-7G= (n.2686-7G=)
c.2617-1G= (n.2617-1G=)
c.2632-1G= (n.2632-1G=)
c.2497-1G= (n.2497-1G=)
16g.28835548G>TCA395407917ATXN2Lc.2686-1G>T (n.2686-1G>T)
c.661-1G>T (n.661-1G>T)
n.3059G>T
c.2704-1G>T (n.2704-1G>T)
c.1750-1G>T (n.1750-1G>T)
c.663G>T (p.Gln221His)
c.212-7G>T
c.2706G>T (p.Gln902His)
c.2688G>T (p.Gln896His)
c.2526G>T (p.Gln842His)
c.2634G>T (p.Gln878His)
c.2616G>T (p.Gln872His)
c.2340G>T (p.Gln780His)
n.2916-1G>T
c.2508G>T (p.Gln836His)
c.2322G>T (p.Gln774His)
n.2918G>T
c.2614-1G>T (n.2614-1G>T)
c.2686-7G>T (n.2686-7G>T)
c.2617-1G>T (n.2617-1G>T)
c.2632-1G>T (n.2632-1G>T)
c.2497-1G>T (n.2497-1G>T)
16g.28835549C>ACA395407921ATXN2Lc.2686C>A (p.His896Asn)
c.661C>A (p.His221Asn)
n.3060C>A
c.2704C>A (p.His902Asn)
c.1750C>A (n.1750C>A)
c.664C>A (p.His222Asn)
c.212-6C>A
c.2707C>A (p.His903Asn)
c.2689C>A (p.His897Asn)
c.2527C>A (p.His843Asn)
c.2635C>A (p.His879Asn)
c.2617C>A (p.His873Asn)
c.2341C>A (p.His781Asn)
n.2916C>A
c.2509C>A (p.His837Asn)
c.2323C>A (p.His775Asn)
n.2919C>A
c.2614C>A (p.His872Asn)
c.2686-6C>A (n.2686-6C>A)
c.2632C>A (p.His878Asn)
c.2497C>A (p.His833Asn)
16g.28835549C>GCA395407923ATXN2Lc.2686C>G (p.His896Asp)
c.661C>G (p.His221Asp)
n.3060C>G
c.2704C>G (p.His902Asp)
c.1750C>G (n.1750C>G)
c.664C>G (p.His222Asp)
c.212-6C>G
c.2707C>G (p.His903Asp)
c.2689C>G (p.His897Asp)
c.2527C>G (p.His843Asp)
c.2635C>G (p.His879Asp)
c.2617C>G (p.His873Asp)
c.2341C>G (p.His781Asp)
n.2916C>G
c.2509C>G (p.His837Asp)
c.2323C>G (p.His775Asp)
n.2919C>G
c.2614C>G (p.His872Asp)
c.2686-6C>G (n.2686-6C>G)
c.2632C>G (p.His878Asp)
c.2497C>G (p.His833Asp)
16g.28835549C>TCA395407925ATXN2Lc.2686C>T (p.His896Tyr)
c.661C>T (p.His221Tyr)
n.3060C>T
c.2704C>T (p.His902Tyr)
c.1750C>T (n.1750C>T)
c.664C>T (p.His222Tyr)
c.212-6C>T
c.2707C>T (p.His903Tyr)
c.2689C>T (p.His897Tyr)
c.2527C>T (p.His843Tyr)
c.2635C>T (p.His879Tyr)
c.2617C>T (p.His873Tyr)
c.2341C>T (p.His781Tyr)
n.2916C>T
c.2509C>T (p.His837Tyr)
c.2323C>T (p.His775Tyr)
n.2919C>T
c.2614C>T (p.His872Tyr)
c.2686-6C>T (n.2686-6C>T)
c.2632C>T (p.His878Tyr)
c.2497C>T (p.His833Tyr)
16g.28835550A>CCA395407927ATXN2Lc.2687A>C (p.His896Pro)
c.662A>C (p.His221Pro)
n.3061A>C
c.2705A>C (p.His902Pro)
c.1751A>C (n.1751A>C)
c.665A>C (p.His222Pro)
c.212-5A>C
c.2708A>C (p.His903Pro)
c.2690A>C (p.His897Pro)
c.2528A>C (p.His843Pro)
c.2636A>C (p.His879Pro)
c.2618A>C (p.His873Pro)
c.2342A>C (p.His781Pro)
n.2917A>C
c.2510A>C (p.His837Pro)
c.2324A>C (p.His775Pro)
n.2920A>C
c.2615A>C (p.His872Pro)
c.2686-5A>C (n.2686-5A>C)
c.2633A>C (p.His878Pro)
c.2498A>C (p.His833Pro)
16g.28835550A>GCA395407929ATXN2Lc.2687A>G (p.His896Arg)
c.662A>G (p.His221Arg)
n.3061A>G
c.2705A>G (p.His902Arg)
c.1751A>G (n.1751A>G)
c.665A>G (p.His222Arg)
c.212-5A>G
c.2708A>G (p.His903Arg)
c.2690A>G (p.His897Arg)
c.2528A>G (p.His843Arg)
c.2636A>G (p.His879Arg)
c.2618A>G (p.His873Arg)
c.2342A>G (p.His781Arg)
n.2917A>G
c.2510A>G (p.His837Arg)
c.2324A>G (p.His775Arg)
n.2920A>G
c.2615A>G (p.His872Arg)
c.2686-5A>G (n.2686-5A>G)
c.2633A>G (p.His878Arg)
c.2498A>G (p.His833Arg)
16g.28835550A>TCA395407931ATXN2Lc.2687A>T (p.His896Leu)
c.662A>T (p.His221Leu)
n.3061A>T
c.2705A>T (p.His902Leu)
c.1751A>T (n.1751A>T)
c.665A>T (p.His222Leu)
c.212-5A>T
c.2708A>T (p.His903Leu)
c.2690A>T (p.His897Leu)
c.2528A>T (p.His843Leu)
c.2636A>T (p.His879Leu)
c.2618A>T (p.His873Leu)
c.2342A>T (p.His781Leu)
n.2917A>T
c.2510A>T (p.His837Leu)
c.2324A>T (p.His775Leu)
n.2920A>T
c.2615A>T (p.His872Leu)
c.2686-5A>T (n.2686-5A>T)
c.2633A>T (p.His878Leu)
c.2498A>T (p.His833Leu)
 COSMIC COSMIC COSMIC COSMIC
16g.28835551T>ACA395407933ATXN2Lc.2688T>A (p.His896Gln)
c.663T>A (p.His221Gln)
n.3062T>A
c.2706T>A (p.His902Gln)
c.1752T>A (n.1752T>A)
c.666T>A (p.His222Gln)
c.212-4T>A
c.2709T>A (p.His903Gln)
c.2691T>A (p.His897Gln)
c.2529T>A (p.His843Gln)
c.2637T>A (p.His879Gln)
c.2619T>A (p.His873Gln)
c.2343T>A (p.His781Gln)
n.2918T>A
c.2511T>A (p.His837Gln)
c.2325T>A (p.His775Gln)
n.2921T>A
c.2616T>A (p.His872Gln)
c.2686-4T>A (n.2686-4T>A)
c.2634T>A (p.His878Gln)
c.2499T>A (p.His833Gln)
16g.28835551T>CCA494869246ATXN2Lc.2688T>C (p.His896=)
c.663T>C (p.His221=)
n.3062T>C
c.2706T>C (p.His902=)
c.1752T>C (n.1752T>C)
c.666T>C (p.His222=)
c.212-4T>C
c.2709T>C (p.His903=)
c.2691T>C (p.His897=)
c.2529T>C (p.His843=)
c.2637T>C (p.His879=)
c.2619T>C (p.His873=)
c.2343T>C (p.His781=)
n.2918T>C
c.2511T>C (p.His837=)
c.2325T>C (p.His775=)
n.2921T>C
c.2616T>C (p.His872=)
c.2686-4T>C (n.2686-4T>C)
c.2634T>C (p.His878=)
c.2499T>C (p.His833=)
16g.28835551T>GCA395407934ATXN2Lc.2688T>G (p.His896Gln)
c.663T>G (p.His221Gln)
n.3062T>G
c.2706T>G (p.His902Gln)
c.1752T>G (n.1752T>G)
c.666T>G (p.His222Gln)
c.212-4T>G
c.2709T>G (p.His903Gln)
c.2691T>G (p.His897Gln)
c.2529T>G (p.His843Gln)
c.2637T>G (p.His879Gln)
c.2619T>G (p.His873Gln)
c.2343T>G (p.His781Gln)
n.2918T>G
c.2511T>G (p.His837Gln)
c.2325T>G (p.His775Gln)
n.2921T>G
c.2616T>G (p.His872Gln)
c.2686-4T>G (n.2686-4T>G)
c.2634T>G (p.His878Gln)
c.2499T>G (p.His833Gln)
16g.28835552delCA2575959511ATXN2Lc.2689del (p.Gln897ArgfsTer23)
c.664del (p.Gln222ArgfsTer23)
n.3063del
c.2707del (p.Gln903ArgfsTer23)
c.1753del (n.1753del)
c.667del (p.Gln223ArgfsTer23)
c.212-3del
c.2710del (p.Gln904ArgfsTer23)
c.2692del (p.Gln898ArgfsTer23)
c.2530del (p.Gln844ArgfsTer23)
c.2638del (p.Gln880ArgfsTer23)
c.2620del (p.Gln874ArgfsTer23)
c.2344del (p.Gln782ArgfsTer23)
n.2919del
c.2512del (p.Gln838ArgfsTer23)
c.2326del (p.Gln776ArgfsTer23)
n.2922del
c.2617del (p.Gln873ArgfsTer23)
c.2686-3del (n.2686-3del)
c.2635del (p.Gln879ArgfsTer23)
c.2500del (p.Gln834ArgfsTer23)
16g.28835552C>ACA395407936ATXN2Lc.2689C>A (p.Gln897Lys)
c.664C>A (p.Gln222Lys)
n.3063C>A
c.2707C>A (p.Gln903Lys)
c.1753C>A (n.1753C>A)
c.667C>A (p.Gln223Lys)
c.212-3C>A
c.2710C>A (p.Gln904Lys)
c.2692C>A (p.Gln898Lys)
c.2530C>A (p.Gln844Lys)
c.2638C>A (p.Gln880Lys)
c.2620C>A (p.Gln874Lys)
c.2344C>A (p.Gln782Lys)
n.2919C>A
c.2512C>A (p.Gln838Lys)
c.2326C>A (p.Gln776Lys)
n.2922C>A
c.2617C>A (p.Gln873Lys)
c.2686-3C>A (n.2686-3C>A)
c.2635C>A (p.Gln879Lys)
c.2500C>A (p.Gln834Lys)
16g.28835552C=CA2215806266ATXN2Lc.2689C= (p.Gln897=)
c.664C= (p.Gln222=)
n.3063C=
c.2707C= (p.Gln903=)
c.1753C= (n.1753C=)
c.667C= (p.Gln223=)
c.212-3C=
c.2710C= (p.Gln904=)
c.2692C= (p.Gln898=)
c.2530C= (p.Gln844=)
c.2638C= (p.Gln880=)
c.2620C= (p.Gln874=)
c.2344C= (p.Gln782=)
n.2919C=
c.2512C= (p.Gln838=)
c.2326C= (p.Gln776=)
n.2922C=
c.2617C= (p.Gln873=)
c.2686-3C= (n.2686-3C=)
c.2635C= (p.Gln879=)
c.2500C= (p.Gln834=)
16g.28835552C>GCA395407938ATXN2Lc.2689C>G (p.Gln897Glu)
c.664C>G (p.Gln222Glu)
n.3063C>G
c.2707C>G (p.Gln903Glu)
c.1753C>G (n.1753C>G)
c.667C>G (p.Gln223Glu)
c.212-3C>G
c.2710C>G (p.Gln904Glu)
c.2692C>G (p.Gln898Glu)
c.2530C>G (p.Gln844Glu)
c.2638C>G (p.Gln880Glu)
c.2620C>G (p.Gln874Glu)
c.2344C>G (p.Gln782Glu)
n.2919C>G
c.2512C>G (p.Gln838Glu)
c.2326C>G (p.Gln776Glu)
n.2922C>G
c.2617C>G (p.Gln873Glu)
c.2686-3C>G (n.2686-3C>G)
c.2635C>G (p.Gln879Glu)
c.2500C>G (p.Gln834Glu)
16g.28835552C>TCA395407940ATXN2Lc.2689C>T (p.Gln897Ter)
c.664C>T (p.Gln222Ter)
n.3063C>T
c.2707C>T (p.Gln903Ter)
c.1753C>T (n.1753C>T)
c.667C>T (p.Gln223Ter)
c.212-3C>T
c.2710C>T (p.Gln904Ter)
c.2692C>T (p.Gln898Ter)
c.2530C>T (p.Gln844Ter)
c.2638C>T (p.Gln880Ter)
c.2620C>T (p.Gln874Ter)
c.2344C>T (p.Gln782Ter)
n.2919C>T
c.2512C>T (p.Gln838Ter)
c.2326C>T (p.Gln776Ter)
n.2922C>T
c.2617C>T (p.Gln873Ter)
c.2686-3C>T (n.2686-3C>T)
c.2635C>T (p.Gln879Ter)
c.2500C>T (p.Gln834Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.28835553A>CCA395407943ATXN2Lc.2690A>C (p.Gln897Pro)
c.665A>C (p.Gln222Pro)
n.3064A>C
c.2708A>C (p.Gln903Pro)
c.1754A>C (n.1754A>C)
c.668A>C (p.Gln223Pro)
c.212-2A>C
c.2711A>C (p.Gln904Pro)
c.2693A>C (p.Gln898Pro)
c.2531A>C (p.Gln844Pro)
c.2639A>C (p.Gln880Pro)
c.2621A>C (p.Gln874Pro)
c.2345A>C (p.Gln782Pro)
n.2920A>C
c.2513A>C (p.Gln838Pro)
c.2327A>C (p.Gln776Pro)
n.2923A>C
c.2618A>C (p.Gln873Pro)
c.2686-2A>C (n.2686-2A>C)
c.2636A>C (p.Gln879Pro)
c.2501A>C (p.Gln834Pro)
 dbSNP
16g.28835553A>GCA395407944ATXN2Lc.2690A>G (p.Gln897Arg)
c.665A>G (p.Gln222Arg)
n.3064A>G
c.2708A>G (p.Gln903Arg)
c.1754A>G (n.1754A>G)
c.668A>G (p.Gln223Arg)
c.212-2A>G
c.2711A>G (p.Gln904Arg)
c.2693A>G (p.Gln898Arg)
c.2531A>G (p.Gln844Arg)
c.2639A>G (p.Gln880Arg)
c.2621A>G (p.Gln874Arg)
c.2345A>G (p.Gln782Arg)
n.2920A>G
c.2513A>G (p.Gln838Arg)
c.2327A>G (p.Gln776Arg)
n.2923A>G
c.2618A>G (p.Gln873Arg)
c.2686-2A>G (n.2686-2A>G)
c.2636A>G (p.Gln879Arg)
c.2501A>G (p.Gln834Arg)
16g.28835553A>TCA395407945ATXN2Lc.2690A>T (p.Gln897Leu)
c.665A>T (p.Gln222Leu)
n.3064A>T
c.2708A>T (p.Gln903Leu)
c.1754A>T (n.1754A>T)
c.668A>T (p.Gln223Leu)
c.212-2A>T
c.2711A>T (p.Gln904Leu)
c.2693A>T (p.Gln898Leu)
c.2531A>T (p.Gln844Leu)
c.2639A>T (p.Gln880Leu)
c.2621A>T (p.Gln874Leu)
c.2345A>T (p.Gln782Leu)
n.2920A>T
c.2513A>T (p.Gln838Leu)
c.2327A>T (p.Gln776Leu)
n.2923A>T
c.2618A>T (p.Gln873Leu)
c.2686-2A>T (n.2686-2A>T)
c.2636A>T (p.Gln879Leu)
c.2501A>T (p.Gln834Leu)
16g.28835554G>ACA494869267ATXN2Lc.2691G>A (p.Gln897=)
c.666G>A (p.Gln222=)
n.3065G>A
c.2709G>A (p.Gln903=)
c.1755G>A (n.1755G>A)
c.669G>A (p.Gln223=)
c.212-1G>A
c.2712G>A (p.Gln904=)
c.2694G>A (p.Gln898=)
c.2532G>A (p.Gln844=)
c.2640G>A (p.Gln880=)
c.2622G>A (p.Gln874=)
c.2346G>A (p.Gln782=)
n.2921G>A
c.2514G>A (p.Gln838=)
c.2328G>A (p.Gln776=)
n.2924G>A
c.2619G>A (p.Gln873=)
c.2686-1G>A (n.2686-1G>A)
c.2637G>A (p.Gln879=)
c.2502G>A (p.Gln834=)
16g.28835554G>CCA395407949ATXN2Lc.2691G>C (p.Gln897His)
c.666G>C (p.Gln222His)
n.3065G>C
c.2709G>C (p.Gln903His)
c.1755G>C (n.1755G>C)
c.669G>C (p.Gln223His)
c.212-1G>C
c.2712G>C (p.Gln904His)
c.2694G>C (p.Gln898His)
c.2532G>C (p.Gln844His)
c.2640G>C (p.Gln880His)
c.2622G>C (p.Gln874His)
c.2346G>C (p.Gln782His)
n.2921G>C
c.2514G>C (p.Gln838His)
c.2328G>C (p.Gln776His)
n.2924G>C
c.2619G>C (p.Gln873His)
c.2686-1G>C (n.2686-1G>C)
c.2637G>C (p.Gln879His)
c.2502G>C (p.Gln834His)
16g.28835554G>TCA395407948ATXN2Lc.2691G>T (p.Gln897His)
c.666G>T (p.Gln222His)
n.3065G>T
c.2709G>T (p.Gln903His)
c.1755G>T (n.1755G>T)
c.669G>T (p.Gln223His)
c.212-1G>T
c.2712G>T (p.Gln904His)
c.2694G>T (p.Gln898His)
c.2532G>T (p.Gln844His)
c.2640G>T (p.Gln880His)
c.2622G>T (p.Gln874His)
c.2346G>T (p.Gln782His)
n.2921G>T
c.2514G>T (p.Gln838His)
c.2328G>T (p.Gln776His)
n.2924G>T
c.2619G>T (p.Gln873His)
c.2686-1G>T (n.2686-1G>T)
c.2637G>T (p.Gln879His)
c.2502G>T (p.Gln834His)
16g.28835555G>ACA395407951ATXN2Lc.2692G>A (p.Ala898Thr)
c.667G>A (p.Ala223Thr)
n.3066G>A
c.2710G>A (p.Ala904Thr)
c.1756G>A (n.1756G>A)
c.670G>A (p.Ala224Thr)
c.212G>A
c.2713G>A (p.Ala905Thr)
c.2695G>A (p.Ala899Thr)
c.2533G>A (p.Ala845Thr)
c.2641G>A (p.Ala881Thr)
c.2623G>A (p.Ala875Thr)
c.2347G>A (p.Ala783Thr)
n.2922G>A
c.2515G>A (p.Ala839Thr)
c.2329G>A (p.Ala777Thr)
n.2925G>A
c.2620G>A (p.Ala874Thr)
c.2686G>A (p.Ala896Thr)
c.2638G>A (p.Ala880Thr)
c.2503G>A (p.Ala835Thr)
 dbSNP gnomAD v2
16g.28835555G>CCA395407953ATXN2Lc.2692G>C (p.Ala898Pro)
c.667G>C (p.Ala223Pro)
n.3066G>C
c.2710G>C (p.Ala904Pro)
c.1756G>C (n.1756G>C)
c.670G>C (p.Ala224Pro)
c.212G>C
c.2713G>C (p.Ala905Pro)
c.2695G>C (p.Ala899Pro)
c.2533G>C (p.Ala845Pro)
c.2641G>C (p.Ala881Pro)
c.2623G>C (p.Ala875Pro)
c.2347G>C (p.Ala783Pro)
n.2922G>C
c.2515G>C (p.Ala839Pro)
c.2329G>C (p.Ala777Pro)
n.2925G>C
c.2620G>C (p.Ala874Pro)
c.2686G>C (p.Ala896Pro)
c.2638G>C (p.Ala880Pro)
c.2503G>C (p.Ala835Pro)
 dbSNP
16g.28835555G=CA2215806267ATXN2Lc.2692G= (p.Ala898=)
c.667G= (p.Ala223=)
n.3066G=
c.2710G= (p.Ala904=)
c.1756G= (n.1756G=)
c.670G= (p.Ala224=)
c.212G=
c.2713G= (p.Ala905=)
c.2695G= (p.Ala899=)
c.2533G= (p.Ala845=)
c.2641G= (p.Ala881=)
c.2623G= (p.Ala875=)
c.2347G= (p.Ala783=)
n.2922G=
c.2515G= (p.Ala839=)
c.2329G= (p.Ala777=)
n.2925G=
c.2620G= (p.Ala874=)
c.2686G= (p.Ala896=)
c.2638G= (p.Ala880=)
c.2503G= (p.Ala835=)
16g.28835555G>TCA395407955ATXN2Lc.2692G>T (p.Ala898Ser)
c.667G>T (p.Ala223Ser)
n.3066G>T
c.2710G>T (p.Ala904Ser)
c.1756G>T (n.1756G>T)
c.670G>T (p.Ala224Ser)
c.212G>T
c.2713G>T (p.Ala905Ser)
c.2695G>T (p.Ala899Ser)
c.2533G>T (p.Ala845Ser)
c.2641G>T (p.Ala881Ser)
c.2623G>T (p.Ala875Ser)
c.2347G>T (p.Ala783Ser)
n.2922G>T
c.2515G>T (p.Ala839Ser)
c.2329G>T (p.Ala777Ser)
n.2925G>T
c.2620G>T (p.Ala874Ser)
c.2686G>T (p.Ala896Ser)
c.2638G>T (p.Ala880Ser)
c.2503G>T (p.Ala835Ser)
16g.28835556C>ACA395407957ATXN2Lc.2693C>A (p.Ala898Glu)
c.668C>A (p.Ala223Glu)
n.3067C>A
c.2711C>A (p.Ala904Glu)
c.1757C>A (n.1757C>A)
c.671C>A (p.Ala224Glu)
c.213C>A
c.2714C>A (p.Ala905Glu)
c.2696C>A (p.Ala899Glu)
c.2534C>A (p.Ala845Glu)
c.2642C>A (p.Ala881Glu)
c.2624C>A (p.Ala875Glu)
c.2348C>A (p.Ala783Glu)
n.2923C>A
c.2516C>A (p.Ala839Glu)
c.2330C>A (p.Ala777Glu)
n.2926C>A
c.2621C>A (p.Ala874Glu)
c.2687C>A (p.Ala896Glu)
c.2639C>A (p.Ala880Glu)
c.2504C>A (p.Ala835Glu)
16g.28835556C=CA2215806269ATXN2Lc.2693C= (p.Ala898=)
c.668C= (p.Ala223=)
n.3067C=
c.2711C= (p.Ala904=)
c.1757C= (n.1757C=)
c.671C= (p.Ala224=)
c.213C=
c.2714C= (p.Ala905=)
c.2696C= (p.Ala899=)
c.2534C= (p.Ala845=)
c.2642C= (p.Ala881=)
c.2624C= (p.Ala875=)
c.2348C= (p.Ala783=)
n.2923C=
c.2516C= (p.Ala839=)
c.2330C= (p.Ala777=)
n.2926C=
c.2621C= (p.Ala874=)
c.2687C= (p.Ala896=)
c.2639C= (p.Ala880=)
c.2504C= (p.Ala835=)
16g.28835556C>GCA395407959ATXN2Lc.2693C>G (p.Ala898Gly)
c.668C>G (p.Ala223Gly)
n.3067C>G
c.2711C>G (p.Ala904Gly)
c.1757C>G (n.1757C>G)
c.671C>G (p.Ala224Gly)
c.213C>G
c.2714C>G (p.Ala905Gly)
c.2696C>G (p.Ala899Gly)
c.2534C>G (p.Ala845Gly)
c.2642C>G (p.Ala881Gly)
c.2624C>G (p.Ala875Gly)
c.2348C>G (p.Ala783Gly)
n.2923C>G
c.2516C>G (p.Ala839Gly)
c.2330C>G (p.Ala777Gly)
n.2926C>G
c.2621C>G (p.Ala874Gly)
c.2687C>G (p.Ala896Gly)
c.2639C>G (p.Ala880Gly)
c.2504C>G (p.Ala835Gly)
16g.28835556C>TCA7985075ATXN2Lc.2693C>T (p.Ala898Val)
c.668C>T (p.Ala223Val)
n.3067C>T
c.2711C>T (p.Ala904Val)
c.1757C>T (n.1757C>T)
c.671C>T (p.Ala224Val)
c.213C>T
c.2714C>T (p.Ala905Val)
c.2696C>T (p.Ala899Val)
c.2534C>T (p.Ala845Val)
c.2642C>T (p.Ala881Val)
c.2624C>T (p.Ala875Val)
c.2348C>T (p.Ala783Val)
n.2923C>T
c.2516C>T (p.Ala839Val)
c.2330C>T (p.Ala777Val)
n.2926C>T
c.2621C>T (p.Ala874Val)
c.2687C>T (p.Ala896Val)
c.2639C>T (p.Ala880Val)
c.2504C>T (p.Ala835Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835557G>ACA7985076ATXN2Lc.2694G>A (p.Ala898=)
c.669G>A (p.Ala223=)
n.3068G>A
c.2712G>A (p.Ala904=)
c.1758G>A (n.1758G>A)
c.672G>A (p.Ala224=)
c.214G>A
c.2715G>A (p.Ala905=)
c.2697G>A (p.Ala899=)
c.2535G>A (p.Ala845=)
c.2643G>A (p.Ala881=)
c.2625G>A (p.Ala875=)
c.2349G>A (p.Ala783=)
n.2924G>A
c.2517G>A (p.Ala839=)
c.2331G>A (p.Ala777=)
n.2927G>A
c.2622G>A (p.Ala874=)
c.2688G>A (p.Ala896=)
c.2640G>A (p.Ala880=)
c.2505G>A (p.Ala835=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835557G>CCA494869323ATXN2Lc.2694G>C (p.Ala898=)
c.669G>C (p.Ala223=)
n.3068G>C
c.2712G>C (p.Ala904=)
c.1758G>C (n.1758G>C)
c.672G>C (p.Ala224=)
c.214G>C
c.2715G>C (p.Ala905=)
c.2697G>C (p.Ala899=)
c.2535G>C (p.Ala845=)
c.2643G>C (p.Ala881=)
c.2625G>C (p.Ala875=)
c.2349G>C (p.Ala783=)
n.2924G>C
c.2517G>C (p.Ala839=)
c.2331G>C (p.Ala777=)
n.2927G>C
c.2622G>C (p.Ala874=)
c.2688G>C (p.Ala896=)
c.2640G>C (p.Ala880=)
c.2505G>C (p.Ala835=)
16g.28835557G=CA2215806270ATXN2Lc.2694G= (p.Ala898=)
c.669G= (p.Ala223=)
n.3068G=
c.2712G= (p.Ala904=)
c.1758G= (n.1758G=)
c.672G= (p.Ala224=)
c.214G=
c.2715G= (p.Ala905=)
c.2697G= (p.Ala899=)
c.2535G= (p.Ala845=)
c.2643G= (p.Ala881=)
c.2625G= (p.Ala875=)
c.2349G= (p.Ala783=)
n.2924G=
c.2517G= (p.Ala839=)
c.2331G= (p.Ala777=)
n.2927G=
c.2622G= (p.Ala874=)
c.2688G= (p.Ala896=)
c.2640G= (p.Ala880=)
c.2505G= (p.Ala835=)
16g.28835557G>TCA494869326ATXN2Lc.2694G>T (p.Ala898=)
c.669G>T (p.Ala223=)
n.3068G>T
c.2712G>T (p.Ala904=)
c.1758G>T (n.1758G>T)
c.672G>T (p.Ala224=)
c.214G>T
c.2715G>T (p.Ala905=)
c.2697G>T (p.Ala899=)
c.2535G>T (p.Ala845=)
c.2643G>T (p.Ala881=)
c.2625G>T (p.Ala875=)
c.2349G>T (p.Ala783=)
n.2924G>T
c.2517G>T (p.Ala839=)
c.2331G>T (p.Ala777=)
n.2927G>T
c.2622G>T (p.Ala874=)
c.2688G>T (p.Ala896=)
c.2640G>T (p.Ala880=)
c.2505G>T (p.Ala835=)
16g.28835558G>ACA395407960ATXN2Lc.2695G>A (p.Gly899Arg)
c.670G>A (p.Gly224Arg)
n.3069G>A
c.2713G>A (p.Gly905Arg)
c.1759G>A (n.1759G>A)
c.673G>A (p.Gly225Arg)
c.215G>A
c.2716G>A (p.Gly906Arg)
c.2698G>A (p.Gly900Arg)
c.2536G>A (p.Gly846Arg)
c.2644G>A (p.Gly882Arg)
c.2626G>A (p.Gly876Arg)
c.2350G>A (p.Gly784Arg)
n.2925G>A
c.2518G>A (p.Gly840Arg)
c.2332G>A (p.Gly778Arg)
n.2928G>A
c.2623G>A (p.Gly875Arg)
c.2689G>A (p.Gly897Arg)
c.2641G>A (p.Gly881Arg)
c.2506G>A (p.Gly836Arg)
 gnomAD v4
16g.28835558G>CCA395407961ATXN2Lc.2695G>C (p.Gly899Arg)
c.670G>C (p.Gly224Arg)
n.3069G>C
c.2713G>C (p.Gly905Arg)
c.1759G>C (n.1759G>C)
c.673G>C (p.Gly225Arg)
c.215G>C
c.2716G>C (p.Gly906Arg)
c.2698G>C (p.Gly900Arg)
c.2536G>C (p.Gly846Arg)
c.2644G>C (p.Gly882Arg)
c.2626G>C (p.Gly876Arg)
c.2350G>C (p.Gly784Arg)
n.2925G>C
c.2518G>C (p.Gly840Arg)
c.2332G>C (p.Gly778Arg)
n.2928G>C
c.2623G>C (p.Gly875Arg)
c.2689G>C (p.Gly897Arg)
c.2641G>C (p.Gly881Arg)
c.2506G>C (p.Gly836Arg)
16g.28835558G>TCA395407963ATXN2Lc.2695G>T (p.Gly899Trp)
c.670G>T (p.Gly224Trp)
n.3069G>T
c.2713G>T (p.Gly905Trp)
c.1759G>T (n.1759G>T)
c.673G>T (p.Gly225Trp)
c.215G>T
c.2716G>T (p.Gly906Trp)
c.2698G>T (p.Gly900Trp)
c.2536G>T (p.Gly846Trp)
c.2644G>T (p.Gly882Trp)
c.2626G>T (p.Gly876Trp)
c.2350G>T (p.Gly784Trp)
n.2925G>T
c.2518G>T (p.Gly840Trp)
c.2332G>T (p.Gly778Trp)
n.2928G>T
c.2623G>T (p.Gly875Trp)
c.2689G>T (p.Gly897Trp)
c.2641G>T (p.Gly881Trp)
c.2506G>T (p.Gly836Trp)
 gnomAD v4
16g.28835559G>ACA395407964ATXN2Lc.2696G>A (p.Gly899Glu)
c.671G>A (p.Gly224Glu)
n.3070G>A
c.2714G>A (p.Gly905Glu)
c.1760G>A (n.1760G>A)
c.674G>A (p.Gly225Glu)
c.216G>A
c.2717G>A (p.Gly906Glu)
c.2699G>A (p.Gly900Glu)
c.2537G>A (p.Gly846Glu)
c.2645G>A (p.Gly882Glu)
c.2627G>A (p.Gly876Glu)
c.2351G>A (p.Gly784Glu)
n.2926G>A
c.2519G>A (p.Gly840Glu)
c.2333G>A (p.Gly778Glu)
n.2929G>A
c.2624G>A (p.Gly875Glu)
c.2690G>A (p.Gly897Glu)
c.2642G>A (p.Gly881Glu)
c.2507G>A (p.Gly836Glu)
16g.28835559G>CCA395407966ATXN2Lc.2696G>C (p.Gly899Ala)
c.671G>C (p.Gly224Ala)
n.3070G>C
c.2714G>C (p.Gly905Ala)
c.1760G>C (n.1760G>C)
c.674G>C (p.Gly225Ala)
c.216G>C
c.2717G>C (p.Gly906Ala)
c.2699G>C (p.Gly900Ala)
c.2537G>C (p.Gly846Ala)
c.2645G>C (p.Gly882Ala)
c.2627G>C (p.Gly876Ala)
c.2351G>C (p.Gly784Ala)
n.2926G>C
c.2519G>C (p.Gly840Ala)
c.2333G>C (p.Gly778Ala)
n.2929G>C
c.2624G>C (p.Gly875Ala)
c.2690G>C (p.Gly897Ala)
c.2642G>C (p.Gly881Ala)
c.2507G>C (p.Gly836Ala)
16g.28835559G>TCA395407968ATXN2Lc.2696G>T (p.Gly899Val)
c.671G>T (p.Gly224Val)
n.3070G>T
c.2714G>T (p.Gly905Val)
c.1760G>T (n.1760G>T)
c.674G>T (p.Gly225Val)
c.216G>T
c.2717G>T (p.Gly906Val)
c.2699G>T (p.Gly900Val)
c.2537G>T (p.Gly846Val)
c.2645G>T (p.Gly882Val)
c.2627G>T (p.Gly876Val)
c.2351G>T (p.Gly784Val)
n.2926G>T
c.2519G>T (p.Gly840Val)
c.2333G>T (p.Gly778Val)
n.2929G>T
c.2624G>T (p.Gly875Val)
c.2690G>T (p.Gly897Val)
c.2642G>T (p.Gly881Val)
c.2507G>T (p.Gly836Val)
16g.28835560G>ACA494869334ATXN2Lc.2697G>A (p.Gly899=)
c.672G>A (p.Gly224=)
n.3071G>A
c.2715G>A (p.Gly905=)
c.1761G>A (n.1761G>A)
c.675G>A (p.Gly225=)
c.217G>A
c.2718G>A (p.Gly906=)
c.2700G>A (p.Gly900=)
c.2538G>A (p.Gly846=)
c.2646G>A (p.Gly882=)
c.2628G>A (p.Gly876=)
c.2352G>A (p.Gly784=)
n.2927G>A
c.2520G>A (p.Gly840=)
c.2334G>A (p.Gly778=)
n.2930G>A
c.2625G>A (p.Gly875=)
c.2691G>A (p.Gly897=)
c.2643G>A (p.Gly881=)
c.2508G>A (p.Gly836=)
 dbSNP gnomAD v3 gnomAD v4
16g.28835560G>CCA494869336ATXN2Lc.2697G>C (p.Gly899=)
c.672G>C (p.Gly224=)
n.3071G>C
c.2715G>C (p.Gly905=)
c.1761G>C (n.1761G>C)
c.675G>C (p.Gly225=)
c.217G>C
c.2718G>C (p.Gly906=)
c.2700G>C (p.Gly900=)
c.2538G>C (p.Gly846=)
c.2646G>C (p.Gly882=)
c.2628G>C (p.Gly876=)
c.2352G>C (p.Gly784=)
n.2927G>C
c.2520G>C (p.Gly840=)
c.2334G>C (p.Gly778=)
n.2930G>C
c.2625G>C (p.Gly875=)
c.2691G>C (p.Gly897=)
c.2643G>C (p.Gly881=)
c.2508G>C (p.Gly836=)
16g.28835560G=CA2215806271ATXN2Lc.2697G= (p.Gly899=)
c.672G= (p.Gly224=)
n.3071G=
c.2715G= (p.Gly905=)
c.1761G= (n.1761G=)
c.675G= (p.Gly225=)
c.217G=
c.2718G= (p.Gly906=)
c.2700G= (p.Gly900=)
c.2538G= (p.Gly846=)
c.2646G= (p.Gly882=)
c.2628G= (p.Gly876=)
c.2352G= (p.Gly784=)
n.2927G=
c.2520G= (p.Gly840=)
c.2334G= (p.Gly778=)
n.2930G=
c.2625G= (p.Gly875=)
c.2691G= (p.Gly897=)
c.2643G= (p.Gly881=)
c.2508G= (p.Gly836=)
16g.28835560G>TCA494869342ATXN2Lc.2697G>T (p.Gly899=)
c.672G>T (p.Gly224=)
n.3071G>T
c.2715G>T (p.Gly905=)
c.1761G>T (n.1761G>T)
c.675G>T (p.Gly225=)
c.217G>T
c.2718G>T (p.Gly906=)
c.2700G>T (p.Gly900=)
c.2538G>T (p.Gly846=)
c.2646G>T (p.Gly882=)
c.2628G>T (p.Gly876=)
c.2352G>T (p.Gly784=)
n.2927G>T
c.2520G>T (p.Gly840=)
c.2334G>T (p.Gly778=)
n.2930G>T
c.2625G>T (p.Gly875=)
c.2691G>T (p.Gly897=)
c.2643G>T (p.Gly881=)
c.2508G>T (p.Gly836=)
16g.28835561C>ACA395407970ATXN2Lc.2698C>A (p.Gln900Lys)
c.673C>A (p.Gln225Lys)
n.3072C>A
c.2716C>A (p.Gln906Lys)
c.1762C>A (n.1762C>A)
c.676C>A (p.Gln226Lys)
c.218C>A
c.2719C>A (p.Gln907Lys)
c.2701C>A (p.Gln901Lys)
c.2539C>A (p.Gln847Lys)
c.2647C>A (p.Gln883Lys)
c.2629C>A (p.Gln877Lys)
c.2353C>A (p.Gln785Lys)
n.2928C>A
c.2521C>A (p.Gln841Lys)
c.2335C>A (p.Gln779Lys)
n.2931C>A
c.2626C>A (p.Gln876Lys)
c.2692C>A (p.Gln898Lys)
c.2644C>A (p.Gln882Lys)
c.2509C>A (p.Gln837Lys)
16g.28835561C>GCA395407974ATXN2Lc.2698C>G (p.Gln900Glu)
c.673C>G (p.Gln225Glu)
n.3072C>G
c.2716C>G (p.Gln906Glu)
c.1762C>G (n.1762C>G)
c.676C>G (p.Gln226Glu)
c.218C>G
c.2719C>G (p.Gln907Glu)
c.2701C>G (p.Gln901Glu)
c.2539C>G (p.Gln847Glu)
c.2647C>G (p.Gln883Glu)
c.2629C>G (p.Gln877Glu)
c.2353C>G (p.Gln785Glu)
n.2928C>G
c.2521C>G (p.Gln841Glu)
c.2335C>G (p.Gln779Glu)
n.2931C>G
c.2626C>G (p.Gln876Glu)
c.2692C>G (p.Gln898Glu)
c.2644C>G (p.Gln882Glu)
c.2509C>G (p.Gln837Glu)
16g.28835561C>TCA395407972ATXN2Lc.2698C>T (p.Gln900Ter)
c.673C>T (p.Gln225Ter)
n.3072C>T
c.2716C>T (p.Gln906Ter)
c.1762C>T (n.1762C>T)
c.676C>T (p.Gln226Ter)
c.218C>T
c.2719C>T (p.Gln907Ter)
c.2701C>T (p.Gln901Ter)
c.2539C>T (p.Gln847Ter)
c.2647C>T (p.Gln883Ter)
c.2629C>T (p.Gln877Ter)
c.2353C>T (p.Gln785Ter)
n.2928C>T
c.2521C>T (p.Gln841Ter)
c.2335C>T (p.Gln779Ter)
n.2931C>T
c.2626C>T (p.Gln876Ter)
c.2692C>T (p.Gln898Ter)
c.2644C>T (p.Gln882Ter)
c.2509C>T (p.Gln837Ter)
16g.28835562A>CCA395407975ATXN2Lc.2699A>C (p.Gln900Pro)
c.674A>C (p.Gln225Pro)
n.3073A>C
c.2717A>C (p.Gln906Pro)
c.1763A>C (n.1763A>C)
c.677A>C (p.Gln226Pro)
c.219A>C
c.2720A>C (p.Gln907Pro)
c.2702A>C (p.Gln901Pro)
c.2540A>C (p.Gln847Pro)
c.2648A>C (p.Gln883Pro)
c.2630A>C (p.Gln877Pro)
c.2354A>C (p.Gln785Pro)
n.2929A>C
c.2522A>C (p.Gln841Pro)
c.2336A>C (p.Gln779Pro)
n.2932A>C
c.2627A>C (p.Gln876Pro)
c.2693A>C (p.Gln898Pro)
c.2645A>C (p.Gln882Pro)
c.2510A>C (p.Gln837Pro)
16g.28835562A>GCA395407978ATXN2Lc.2699A>G (p.Gln900Arg)
c.674A>G (p.Gln225Arg)
n.3073A>G
c.2717A>G (p.Gln906Arg)
c.1763A>G (n.1763A>G)
c.677A>G (p.Gln226Arg)
c.219A>G
c.2720A>G (p.Gln907Arg)
c.2702A>G (p.Gln901Arg)
c.2540A>G (p.Gln847Arg)
c.2648A>G (p.Gln883Arg)
c.2630A>G (p.Gln877Arg)
c.2354A>G (p.Gln785Arg)
n.2929A>G
c.2522A>G (p.Gln841Arg)
c.2336A>G (p.Gln779Arg)
n.2932A>G
c.2627A>G (p.Gln876Arg)
c.2693A>G (p.Gln898Arg)
c.2645A>G (p.Gln882Arg)
c.2510A>G (p.Gln837Arg)
 gnomAD v4
16g.28835562A>TCA395407976ATXN2Lc.2699A>T (p.Gln900Leu)
c.674A>T (p.Gln225Leu)
n.3073A>T
c.2717A>T (p.Gln906Leu)
c.1763A>T (n.1763A>T)
c.677A>T (p.Gln226Leu)
c.219A>T
c.2720A>T (p.Gln907Leu)
c.2702A>T (p.Gln901Leu)
c.2540A>T (p.Gln847Leu)
c.2648A>T (p.Gln883Leu)
c.2630A>T (p.Gln877Leu)
c.2354A>T (p.Gln785Leu)
n.2929A>T
c.2522A>T (p.Gln841Leu)
c.2336A>T (p.Gln779Leu)
n.2932A>T
c.2627A>T (p.Gln876Leu)
c.2693A>T (p.Gln898Leu)
c.2645A>T (p.Gln882Leu)
c.2510A>T (p.Gln837Leu)
16g.28835563G>ACA494869360ATXN2Lc.2700G>A (p.Gln900=)
c.675G>A (p.Gln225=)
n.3074G>A
c.2718G>A (p.Gln906=)
c.1764G>A (n.1764G>A)
c.678G>A (p.Gln226=)
c.220G>A
c.2721G>A (p.Gln907=)
c.2703G>A (p.Gln901=)
c.2541G>A (p.Gln847=)
c.2649G>A (p.Gln883=)
c.2631G>A (p.Gln877=)
c.2355G>A (p.Gln785=)
n.2930G>A
c.2523G>A (p.Gln841=)
c.2337G>A (p.Gln779=)
n.2933G>A
c.2628G>A (p.Gln876=)
c.2694G>A (p.Gln898=)
c.2646G>A (p.Gln882=)
c.2511G>A (p.Gln837=)
16g.28835563G>CCA395407980ATXN2Lc.2700G>C (p.Gln900His)
c.675G>C (p.Gln225His)
n.3074G>C
c.2718G>C (p.Gln906His)
c.1764G>C (n.1764G>C)
c.678G>C (p.Gln226His)
c.220G>C
c.2721G>C (p.Gln907His)
c.2703G>C (p.Gln901His)
c.2541G>C (p.Gln847His)
c.2649G>C (p.Gln883His)
c.2631G>C (p.Gln877His)
c.2355G>C (p.Gln785His)
n.2930G>C
c.2523G>C (p.Gln841His)
c.2337G>C (p.Gln779His)
n.2933G>C
c.2628G>C (p.Gln876His)
c.2694G>C (p.Gln898His)
c.2646G>C (p.Gln882His)
c.2511G>C (p.Gln837His)
16g.28835563G>TCA395407982ATXN2Lc.2700G>T (p.Gln900His)
c.675G>T (p.Gln225His)
n.3074G>T
c.2718G>T (p.Gln906His)
c.1764G>T (n.1764G>T)
c.678G>T (p.Gln226His)
c.220G>T
c.2721G>T (p.Gln907His)
c.2703G>T (p.Gln901His)
c.2541G>T (p.Gln847His)
c.2649G>T (p.Gln883His)
c.2631G>T (p.Gln877His)
c.2355G>T (p.Gln785His)
n.2930G>T
c.2523G>T (p.Gln841His)
c.2337G>T (p.Gln779His)
n.2933G>T
c.2628G>T (p.Gln876His)
c.2694G>T (p.Gln898His)
c.2646G>T (p.Gln882His)
c.2511G>T (p.Gln837His)
16g.28835564G>ACA395407985ATXN2Lc.2701G>A (p.Ala901Thr)
c.676G>A (p.Ala226Thr)
n.3075G>A
c.2719G>A (p.Ala907Thr)
c.1765G>A (n.1765G>A)
c.679G>A (p.Ala227Thr)
c.221G>A
c.2722G>A (p.Ala908Thr)
c.2704G>A (p.Ala902Thr)
c.2542G>A (p.Ala848Thr)
c.2650G>A (p.Ala884Thr)
c.2632G>A (p.Ala878Thr)
c.2356G>A (p.Ala786Thr)
n.2931G>A
c.2524G>A (p.Ala842Thr)
c.2338G>A (p.Ala780Thr)
n.2934G>A
c.2629G>A (p.Ala877Thr)
c.2695G>A (p.Ala899Thr)
c.2647G>A (p.Ala883Thr)
c.2512G>A (p.Ala838Thr)
16g.28835564G>CCA395407986ATXN2Lc.2701G>C (p.Ala901Pro)
c.676G>C (p.Ala226Pro)
n.3075G>C
c.2719G>C (p.Ala907Pro)
c.1765G>C (n.1765G>C)
c.679G>C (p.Ala227Pro)
c.221G>C
c.2722G>C (p.Ala908Pro)
c.2704G>C (p.Ala902Pro)
c.2542G>C (p.Ala848Pro)
c.2650G>C (p.Ala884Pro)
c.2632G>C (p.Ala878Pro)
c.2356G>C (p.Ala786Pro)
n.2931G>C
c.2524G>C (p.Ala842Pro)
c.2338G>C (p.Ala780Pro)
n.2934G>C
c.2629G>C (p.Ala877Pro)
c.2695G>C (p.Ala899Pro)
c.2647G>C (p.Ala883Pro)
c.2512G>C (p.Ala838Pro)
16g.28835564G>TCA395407988ATXN2Lc.2701G>T (p.Ala901Ser)
c.676G>T (p.Ala226Ser)
n.3075G>T
c.2719G>T (p.Ala907Ser)
c.1765G>T (n.1765G>T)
c.679G>T (p.Ala227Ser)
c.221G>T
c.2722G>T (p.Ala908Ser)
c.2704G>T (p.Ala902Ser)
c.2542G>T (p.Ala848Ser)
c.2650G>T (p.Ala884Ser)
c.2632G>T (p.Ala878Ser)
c.2356G>T (p.Ala786Ser)
n.2931G>T
c.2524G>T (p.Ala842Ser)
c.2338G>T (p.Ala780Ser)
n.2934G>T
c.2629G>T (p.Ala877Ser)
c.2695G>T (p.Ala899Ser)
c.2647G>T (p.Ala883Ser)
c.2512G>T (p.Ala838Ser)
 gnomAD v4
16g.28835565C>ACA395407990ATXN2Lc.2702C>A (p.Ala901Asp)
c.677C>A (p.Ala226Asp)
n.3076C>A
c.2720C>A (p.Ala907Asp)
c.1766C>A (n.1766C>A)
c.680C>A (p.Ala227Asp)
c.222C>A
c.2723C>A (p.Ala908Asp)
c.2705C>A (p.Ala902Asp)
c.2543C>A (p.Ala848Asp)
c.2651C>A (p.Ala884Asp)
c.2633C>A (p.Ala878Asp)
c.2357C>A (p.Ala786Asp)
n.2932C>A
c.2525C>A (p.Ala842Asp)
c.2339C>A (p.Ala780Asp)
n.2935C>A
c.2630C>A (p.Ala877Asp)
c.2696C>A (p.Ala899Asp)
c.2648C>A (p.Ala883Asp)
c.2513C>A (p.Ala838Asp)
16g.28835565C>GCA395407991ATXN2Lc.2702C>G (p.Ala901Gly)
c.677C>G (p.Ala226Gly)
n.3076C>G
c.2720C>G (p.Ala907Gly)
c.1766C>G (n.1766C>G)
c.680C>G (p.Ala227Gly)
c.222C>G
c.2723C>G (p.Ala908Gly)
c.2705C>G (p.Ala902Gly)
c.2543C>G (p.Ala848Gly)
c.2651C>G (p.Ala884Gly)
c.2633C>G (p.Ala878Gly)
c.2357C>G (p.Ala786Gly)
n.2932C>G
c.2525C>G (p.Ala842Gly)
c.2339C>G (p.Ala780Gly)
n.2935C>G
c.2630C>G (p.Ala877Gly)
c.2696C>G (p.Ala899Gly)
c.2648C>G (p.Ala883Gly)
c.2513C>G (p.Ala838Gly)
16g.28835565C>TCA395407992ATXN2Lc.2702C>T (p.Ala901Val)
c.677C>T (p.Ala226Val)
n.3076C>T
c.2720C>T (p.Ala907Val)
c.1766C>T (n.1766C>T)
c.680C>T (p.Ala227Val)
c.222C>T
c.2723C>T (p.Ala908Val)
c.2705C>T (p.Ala902Val)
c.2543C>T (p.Ala848Val)
c.2651C>T (p.Ala884Val)
c.2633C>T (p.Ala878Val)
c.2357C>T (p.Ala786Val)
n.2932C>T
c.2525C>T (p.Ala842Val)
c.2339C>T (p.Ala780Val)
n.2935C>T
c.2630C>T (p.Ala877Val)
c.2696C>T (p.Ala899Val)
c.2648C>T (p.Ala883Val)
c.2513C>T (p.Ala838Val)
16g.28835566C>ACA494869384ATXN2Lc.2703C>A (p.Ala901=)
c.678C>A (p.Ala226=)
n.3077C>A
c.2721C>A (p.Ala907=)
c.1767C>A (n.1767C>A)
c.681C>A (p.Ala227=)
c.223C>A
c.2724C>A (p.Ala908=)
c.2706C>A (p.Ala902=)
c.2544C>A (p.Ala848=)
c.2652C>A (p.Ala884=)
c.2634C>A (p.Ala878=)
c.2358C>A (p.Ala786=)
n.2933C>A
c.2526C>A (p.Ala842=)
c.2340C>A (p.Ala780=)
n.2936C>A
c.2631C>A (p.Ala877=)
c.2697C>A (p.Ala899=)
c.2649C>A (p.Ala883=)
c.2514C>A (p.Ala838=)
 gnomAD v4
16g.28835566C=CA2215806272ATXN2Lc.2703C= (p.Ala901=)
c.678C= (p.Ala226=)
n.3077C=
c.2721C= (p.Ala907=)
c.1767C= (n.1767C=)
c.681C= (p.Ala227=)
c.223C=
c.2724C= (p.Ala908=)
c.2706C= (p.Ala902=)
c.2544C= (p.Ala848=)
c.2652C= (p.Ala884=)
c.2634C= (p.Ala878=)
c.2358C= (p.Ala786=)
n.2933C=
c.2526C= (p.Ala842=)
c.2340C= (p.Ala780=)
n.2936C=
c.2631C= (p.Ala877=)
c.2697C= (p.Ala899=)
c.2649C= (p.Ala883=)
c.2514C= (p.Ala838=)
16g.28835566C>GCA494869387ATXN2Lc.2703C>G (p.Ala901=)
c.678C>G (p.Ala226=)
n.3077C>G
c.2721C>G (p.Ala907=)
c.1767C>G (n.1767C>G)
c.681C>G (p.Ala227=)
c.223C>G
c.2724C>G (p.Ala908=)
c.2706C>G (p.Ala902=)
c.2544C>G (p.Ala848=)
c.2652C>G (p.Ala884=)
c.2634C>G (p.Ala878=)
c.2358C>G (p.Ala786=)
n.2933C>G
c.2526C>G (p.Ala842=)
c.2340C>G (p.Ala780=)
n.2936C>G
c.2631C>G (p.Ala877=)
c.2697C>G (p.Ala899=)
c.2649C>G (p.Ala883=)
c.2514C>G (p.Ala838=)
16g.28835566C>TCA279230738ATXN2Lc.2703C>T (p.Ala901=)
c.678C>T (p.Ala226=)
n.3077C>T
c.2721C>T (p.Ala907=)
c.1767C>T (n.1767C>T)
c.681C>T (p.Ala227=)
c.223C>T
c.2724C>T (p.Ala908=)
c.2706C>T (p.Ala902=)
c.2544C>T (p.Ala848=)
c.2652C>T (p.Ala884=)
c.2634C>T (p.Ala878=)
c.2358C>T (p.Ala786=)
n.2933C>T
c.2526C>T (p.Ala842=)
c.2340C>T (p.Ala780=)
n.2936C>T
c.2631C>T (p.Ala877=)
c.2697C>T (p.Ala899=)
c.2649C>T (p.Ala883=)
c.2514C>T (p.Ala838=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835567C>ACA395407995ATXN2Lc.2704C>A (p.Pro902Thr)
c.679C>A (p.Pro227Thr)
n.3078C>A
c.2722C>A (p.Pro908Thr)
c.1768C>A (n.1768C>A)
c.682C>A (p.Pro228Thr)
c.224C>A
c.2725C>A (p.Pro909Thr)
c.2707C>A (p.Pro903Thr)
c.2545C>A (p.Pro849Thr)
c.2653C>A (p.Pro885Thr)
c.2635C>A (p.Pro879Thr)
c.2359C>A (p.Pro787Thr)
n.2934C>A
c.2527C>A (p.Pro843Thr)
c.2341C>A (p.Pro781Thr)
n.2937C>A
c.2632C>A (p.Pro878Thr)
c.2698C>A (p.Pro900Thr)
c.2650C>A (p.Pro884Thr)
c.2515C>A (p.Pro839Thr)
16g.28835567C=CA2215806275ATXN2Lc.2704C= (p.Pro902=)
c.679C= (p.Pro227=)
n.3078C=
c.2722C= (p.Pro908=)
c.1768C= (n.1768C=)
c.682C= (p.Pro228=)
c.224C=
c.2725C= (p.Pro909=)
c.2707C= (p.Pro903=)
c.2545C= (p.Pro849=)
c.2653C= (p.Pro885=)
c.2635C= (p.Pro879=)
c.2359C= (p.Pro787=)
n.2934C=
c.2527C= (p.Pro843=)
c.2341C= (p.Pro781=)
n.2937C=
c.2632C= (p.Pro878=)
c.2698C= (p.Pro900=)
c.2650C= (p.Pro884=)
c.2515C= (p.Pro839=)
16g.28835567C>GCA7985077ATXN2Lc.2704C>G (p.Pro902Ala)
c.679C>G (p.Pro227Ala)
n.3078C>G
c.2722C>G (p.Pro908Ala)
c.1768C>G (n.1768C>G)
c.682C>G (p.Pro228Ala)
c.224C>G
c.2725C>G (p.Pro909Ala)
c.2707C>G (p.Pro903Ala)
c.2545C>G (p.Pro849Ala)
c.2653C>G (p.Pro885Ala)
c.2635C>G (p.Pro879Ala)
c.2359C>G (p.Pro787Ala)
n.2934C>G
c.2527C>G (p.Pro843Ala)
c.2341C>G (p.Pro781Ala)
n.2937C>G
c.2632C>G (p.Pro878Ala)
c.2698C>G (p.Pro900Ala)
c.2650C>G (p.Pro884Ala)
c.2515C>G (p.Pro839Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835567C>TCA395407997ATXN2Lc.2704C>T (p.Pro902Ser)
c.679C>T (p.Pro227Ser)
n.3078C>T
c.2722C>T (p.Pro908Ser)
c.1768C>T (n.1768C>T)
c.682C>T (p.Pro228Ser)
c.224C>T
c.2725C>T (p.Pro909Ser)
c.2707C>T (p.Pro903Ser)
c.2545C>T (p.Pro849Ser)
c.2653C>T (p.Pro885Ser)
c.2635C>T (p.Pro879Ser)
c.2359C>T (p.Pro787Ser)
n.2934C>T
c.2527C>T (p.Pro843Ser)
c.2341C>T (p.Pro781Ser)
n.2937C>T
c.2632C>T (p.Pro878Ser)
c.2698C>T (p.Pro900Ser)
c.2650C>T (p.Pro884Ser)
c.2515C>T (p.Pro839Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.28835568C>ACA395408003ATXN2Lc.2705C>A (p.Pro902Gln)
c.680C>A (p.Pro227Gln)
n.3079C>A
c.2723C>A (p.Pro908Gln)
c.1769C>A (n.1769C>A)
c.683C>A (p.Pro228Gln)
c.225C>A
c.2726C>A (p.Pro909Gln)
c.2708C>A (p.Pro903Gln)
c.2546C>A (p.Pro849Gln)
c.2654C>A (p.Pro885Gln)
c.2636C>A (p.Pro879Gln)
c.2360C>A (p.Pro787Gln)
n.2935C>A
c.2528C>A (p.Pro843Gln)
c.2342C>A (p.Pro781Gln)
n.2938C>A
c.2633C>A (p.Pro878Gln)
c.2699C>A (p.Pro900Gln)
c.2651C>A (p.Pro884Gln)
c.2516C>A (p.Pro839Gln)
16g.28835568C>GCA395408000ATXN2Lc.2705C>G (p.Pro902Arg)
c.680C>G (p.Pro227Arg)
n.3079C>G
c.2723C>G (p.Pro908Arg)
c.1769C>G (n.1769C>G)
c.683C>G (p.Pro228Arg)
c.225C>G
c.2726C>G (p.Pro909Arg)
c.2708C>G (p.Pro903Arg)
c.2546C>G (p.Pro849Arg)
c.2654C>G (p.Pro885Arg)
c.2636C>G (p.Pro879Arg)
c.2360C>G (p.Pro787Arg)
n.2935C>G
c.2528C>G (p.Pro843Arg)
c.2342C>G (p.Pro781Arg)
n.2938C>G
c.2633C>G (p.Pro878Arg)
c.2699C>G (p.Pro900Arg)
c.2651C>G (p.Pro884Arg)
c.2516C>G (p.Pro839Arg)
 gnomAD v4
16g.28835568C>TCA395408001ATXN2Lc.2705C>T (p.Pro902Leu)
c.680C>T (p.Pro227Leu)
n.3079C>T
c.2723C>T (p.Pro908Leu)
c.1769C>T (n.1769C>T)
c.683C>T (p.Pro228Leu)
c.225C>T
c.2726C>T (p.Pro909Leu)
c.2708C>T (p.Pro903Leu)
c.2546C>T (p.Pro849Leu)
c.2654C>T (p.Pro885Leu)
c.2636C>T (p.Pro879Leu)
c.2360C>T (p.Pro787Leu)
n.2935C>T
c.2528C>T (p.Pro843Leu)
c.2342C>T (p.Pro781Leu)
n.2938C>T
c.2633C>T (p.Pro878Leu)
c.2699C>T (p.Pro900Leu)
c.2651C>T (p.Pro884Leu)
c.2516C>T (p.Pro839Leu)
16g.28835569A=CA2215806277ATXN2Lc.2706A= (p.Pro902=)
c.681A= (p.Pro227=)
n.3080A=
c.2724A= (p.Pro908=)
c.1770A= (n.1770A=)
c.684A= (p.Pro228=)
c.226A=
c.2727A= (p.Pro909=)
c.2709A= (p.Pro903=)
c.2547A= (p.Pro849=)
c.2655A= (p.Pro885=)
c.2637A= (p.Pro879=)
c.2361A= (p.Pro787=)
n.2936A=
c.2529A= (p.Pro843=)
c.2343A= (p.Pro781=)
n.2939A=
c.2634A= (p.Pro878=)
c.2700A= (p.Pro900=)
c.2652A= (p.Pro884=)
c.2517A= (p.Pro839=)
16g.28835569A>CCA7985078ATXN2Lc.2706A>C (p.Pro902=)
c.681A>C (p.Pro227=)
n.3080A>C
c.2724A>C (p.Pro908=)
c.1770A>C (n.1770A>C)
c.684A>C (p.Pro228=)
c.226A>C
c.2727A>C (p.Pro909=)
c.2709A>C (p.Pro903=)
c.2547A>C (p.Pro849=)
c.2655A>C (p.Pro885=)
c.2637A>C (p.Pro879=)
c.2361A>C (p.Pro787=)
n.2936A>C
c.2529A>C (p.Pro843=)
c.2343A>C (p.Pro781=)
n.2939A>C
c.2634A>C (p.Pro878=)
c.2700A>C (p.Pro900=)
c.2652A>C (p.Pro884=)
c.2517A>C (p.Pro839=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835569A>GCA494869409ATXN2Lc.2706A>G (p.Pro902=)
c.681A>G (p.Pro227=)
n.3080A>G
c.2724A>G (p.Pro908=)
c.1770A>G (n.1770A>G)
c.684A>G (p.Pro228=)
c.226A>G
c.2727A>G (p.Pro909=)
c.2709A>G (p.Pro903=)
c.2547A>G (p.Pro849=)
c.2655A>G (p.Pro885=)
c.2637A>G (p.Pro879=)
c.2361A>G (p.Pro787=)
n.2936A>G
c.2529A>G (p.Pro843=)
c.2343A>G (p.Pro781=)
n.2939A>G
c.2634A>G (p.Pro878=)
c.2700A>G (p.Pro900=)
c.2652A>G (p.Pro884=)
c.2517A>G (p.Pro839=)
 gnomAD v4
16g.28835569A>TCA494869410ATXN2Lc.2706A>T (p.Pro902=)
c.681A>T (p.Pro227=)
n.3080A>T
c.2724A>T (p.Pro908=)
c.1770A>T (n.1770A>T)
c.684A>T (p.Pro228=)
c.226A>T
c.2727A>T (p.Pro909=)
c.2709A>T (p.Pro903=)
c.2547A>T (p.Pro849=)
c.2655A>T (p.Pro885=)
c.2637A>T (p.Pro879=)
c.2361A>T (p.Pro787=)
n.2936A>T
c.2529A>T (p.Pro843=)
c.2343A>T (p.Pro781=)
n.2939A>T
c.2634A>T (p.Pro878=)
c.2700A>T (p.Pro900=)
c.2652A>T (p.Pro884=)
c.2517A>T (p.Pro839=)
16g.28835570C>ACA395408005ATXN2Lc.2707C>A (p.His903Asn)
c.682C>A (p.His228Asn)
n.3081C>A
c.2725C>A (p.His909Asn)
c.1771C>A (n.1771C>A)
c.685C>A (p.His229Asn)
c.227C>A
c.2728C>A (p.His910Asn)
c.2710C>A (p.His904Asn)
c.2548C>A (p.His850Asn)
c.2656C>A (p.His886Asn)
c.2638C>A (p.His880Asn)
c.2362C>A (p.His788Asn)
n.2937C>A
c.2530C>A (p.His844Asn)
c.2344C>A (p.His782Asn)
n.2940C>A
c.2635C>A (p.His879Asn)
c.2701C>A (p.His901Asn)
c.2653C>A (p.His885Asn)
c.2518C>A (p.His840Asn)
16g.28835570C>GCA395408006ATXN2Lc.2707C>G (p.His903Asp)
c.682C>G (p.His228Asp)
n.3081C>G
c.2725C>G (p.His909Asp)
c.1771C>G (n.1771C>G)
c.685C>G (p.His229Asp)
c.227C>G
c.2728C>G (p.His910Asp)
c.2710C>G (p.His904Asp)
c.2548C>G (p.His850Asp)
c.2656C>G (p.His886Asp)
c.2638C>G (p.His880Asp)
c.2362C>G (p.His788Asp)
n.2937C>G
c.2530C>G (p.His844Asp)
c.2344C>G (p.His782Asp)
n.2940C>G
c.2635C>G (p.His879Asp)
c.2701C>G (p.His901Asp)
c.2653C>G (p.His885Asp)
c.2518C>G (p.His840Asp)
16g.28835570C>TCA395408008ATXN2Lc.2707C>T (p.His903Tyr)
c.682C>T (p.His228Tyr)
n.3081C>T
c.2725C>T (p.His909Tyr)
c.1771C>T (n.1771C>T)
c.685C>T (p.His229Tyr)
c.227C>T
c.2728C>T (p.His910Tyr)
c.2710C>T (p.His904Tyr)
c.2548C>T (p.His850Tyr)
c.2656C>T (p.His886Tyr)
c.2638C>T (p.His880Tyr)
c.2362C>T (p.His788Tyr)
n.2937C>T
c.2530C>T (p.His844Tyr)
c.2344C>T (p.His782Tyr)
n.2940C>T
c.2635C>T (p.His879Tyr)
c.2701C>T (p.His901Tyr)
c.2653C>T (p.His885Tyr)
c.2518C>T (p.His840Tyr)
 gnomAD v4
16g.28835571A>CCA395408011ATXN2Lc.2708A>C (p.His903Pro)
c.683A>C (p.His228Pro)
n.3082A>C
c.2726A>C (p.His909Pro)
c.1772A>C (n.1772A>C)
c.686A>C (p.His229Pro)
c.228A>C
c.2729A>C (p.His910Pro)
c.2711A>C (p.His904Pro)
c.2549A>C (p.His850Pro)
c.2657A>C (p.His886Pro)
c.2639A>C (p.His880Pro)
c.2363A>C (p.His788Pro)
n.2938A>C
c.2531A>C (p.His844Pro)
c.2345A>C (p.His782Pro)
n.2941A>C
c.2636A>C (p.His879Pro)
c.2702A>C (p.His901Pro)
c.2654A>C (p.His885Pro)
c.2519A>C (p.His840Pro)
16g.28835571A>GCA395408012ATXN2Lc.2708A>G (p.His903Arg)
c.683A>G (p.His228Arg)
n.3082A>G
c.2726A>G (p.His909Arg)
c.1772A>G (n.1772A>G)
c.686A>G (p.His229Arg)
c.228A>G
c.2729A>G (p.His910Arg)
c.2711A>G (p.His904Arg)
c.2549A>G (p.His850Arg)
c.2657A>G (p.His886Arg)
c.2639A>G (p.His880Arg)
c.2363A>G (p.His788Arg)
n.2938A>G
c.2531A>G (p.His844Arg)
c.2345A>G (p.His782Arg)
n.2941A>G
c.2636A>G (p.His879Arg)
c.2702A>G (p.His901Arg)
c.2654A>G (p.His885Arg)
c.2519A>G (p.His840Arg)
16g.28835571A>TCA395408014ATXN2Lc.2708A>T (p.His903Leu)
c.683A>T (p.His228Leu)
n.3082A>T
c.2726A>T (p.His909Leu)
c.1772A>T (n.1772A>T)
c.686A>T (p.His229Leu)
c.228A>T
c.2729A>T (p.His910Leu)
c.2711A>T (p.His904Leu)
c.2549A>T (p.His850Leu)
c.2657A>T (p.His886Leu)
c.2639A>T (p.His880Leu)
c.2363A>T (p.His788Leu)
n.2938A>T
c.2531A>T (p.His844Leu)
c.2345A>T (p.His782Leu)
n.2941A>T
c.2636A>T (p.His879Leu)
c.2702A>T (p.His901Leu)
c.2654A>T (p.His885Leu)
c.2519A>T (p.His840Leu)
16g.28835572C>ACA395408016ATXN2Lc.2709C>A (p.His903Gln)
c.684C>A (p.His228Gln)
n.3083C>A
c.2727C>A (p.His909Gln)
c.1773C>A (n.1773C>A)
c.687C>A (p.His229Gln)
c.229C>A
c.2730C>A (p.His910Gln)
c.2712C>A (p.His904Gln)
c.2550C>A (p.His850Gln)
c.2658C>A (p.His886Gln)
c.2640C>A (p.His880Gln)
c.2364C>A (p.His788Gln)
n.2939C>A
c.2532C>A (p.His844Gln)
c.2346C>A (p.His782Gln)
n.2942C>A
c.2637C>A (p.His879Gln)
c.2703C>A (p.His901Gln)
c.2655C>A (p.His885Gln)
c.2520C>A (p.His840Gln)
16g.28835572C=CA2215806280ATXN2Lc.2709C= (p.His903=)
c.684C= (p.His228=)
n.3083C=
c.2727C= (p.His909=)
c.1773C= (n.1773C=)
c.687C= (p.His229=)
c.229C=
c.2730C= (p.His910=)
c.2712C= (p.His904=)
c.2550C= (p.His850=)
c.2658C= (p.His886=)
c.2640C= (p.His880=)
c.2364C= (p.His788=)
n.2939C=
c.2532C= (p.His844=)
c.2346C= (p.His782=)
n.2942C=
c.2637C= (p.His879=)
c.2703C= (p.His901=)
c.2655C= (p.His885=)
c.2520C= (p.His840=)
16g.28835572C>GCA395408018ATXN2Lc.2709C>G (p.His903Gln)
c.684C>G (p.His228Gln)
n.3083C>G
c.2727C>G (p.His909Gln)
c.1773C>G (n.1773C>G)
c.687C>G (p.His229Gln)
c.229C>G
c.2730C>G (p.His910Gln)
c.2712C>G (p.His904Gln)
c.2550C>G (p.His850Gln)
c.2658C>G (p.His886Gln)
c.2640C>G (p.His880Gln)
c.2364C>G (p.His788Gln)
n.2939C>G
c.2532C>G (p.His844Gln)
c.2346C>G (p.His782Gln)
n.2942C>G
c.2637C>G (p.His879Gln)
c.2703C>G (p.His901Gln)
c.2655C>G (p.His885Gln)
c.2520C>G (p.His840Gln)
16g.28835572C>TCA494869428ATXN2Lc.2709C>T (p.His903=)
c.684C>T (p.His228=)
n.3083C>T
c.2727C>T (p.His909=)
c.1773C>T (n.1773C>T)
c.687C>T (p.His229=)
c.229C>T
c.2730C>T (p.His910=)
c.2712C>T (p.His904=)
c.2550C>T (p.His850=)
c.2658C>T (p.His886=)
c.2640C>T (p.His880=)
c.2364C>T (p.His788=)
n.2939C>T
c.2532C>T (p.His844=)
c.2346C>T (p.His782=)
n.2942C>T
c.2637C>T (p.His879=)
c.2703C>T (p.His901=)
c.2655C>T (p.His885=)
c.2520C>T (p.His840=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835573T>ACA395408021ATXN2Lc.2710T>A (p.Leu904Met)
c.685T>A (p.Leu229Met)
n.3084T>A
c.2728T>A (p.Leu910Met)
c.1774T>A (n.1774T>A)
c.688T>A (p.Leu230Met)
c.230T>A
c.2731T>A (p.Leu911Met)
c.2713T>A (p.Leu905Met)
c.2551T>A (p.Leu851Met)
c.2659T>A (p.Leu887Met)
c.2641T>A (p.Leu881Met)
c.2365T>A (p.Leu789Met)
n.2940T>A
c.2533T>A (p.Leu845Met)
c.2347T>A (p.Leu783Met)
n.2943T>A
c.2638T>A (p.Leu880Met)
c.2704T>A (p.Leu902Met)
c.2656T>A (p.Leu886Met)
c.2521T>A (p.Leu841Met)
16g.28835573T>CCA494869432ATXN2Lc.2710T>C (p.Leu904=)
c.685T>C (p.Leu229=)
n.3084T>C
c.2728T>C (p.Leu910=)
c.1774T>C (n.1774T>C)
c.688T>C (p.Leu230=)
c.230T>C
c.2731T>C (p.Leu911=)
c.2713T>C (p.Leu905=)
c.2551T>C (p.Leu851=)
c.2659T>C (p.Leu887=)
c.2641T>C (p.Leu881=)
c.2365T>C (p.Leu789=)
n.2940T>C
c.2533T>C (p.Leu845=)
c.2347T>C (p.Leu783=)
n.2943T>C
c.2638T>C (p.Leu880=)
c.2704T>C (p.Leu902=)
c.2656T>C (p.Leu886=)
c.2521T>C (p.Leu841=)
16g.28835573T>GCA395408022ATXN2Lc.2710T>G (p.Leu904Val)
c.685T>G (p.Leu229Val)
n.3084T>G
c.2728T>G (p.Leu910Val)
c.1774T>G (n.1774T>G)
c.688T>G (p.Leu230Val)
c.230T>G
c.2731T>G (p.Leu911Val)
c.2713T>G (p.Leu905Val)
c.2551T>G (p.Leu851Val)
c.2659T>G (p.Leu887Val)
c.2641T>G (p.Leu881Val)
c.2365T>G (p.Leu789Val)
n.2940T>G
c.2533T>G (p.Leu845Val)
c.2347T>G (p.Leu783Val)
n.2943T>G
c.2638T>G (p.Leu880Val)
c.2704T>G (p.Leu902Val)
c.2656T>G (p.Leu886Val)
c.2521T>G (p.Leu841Val)
 gnomAD v4
16g.28835574T>ACA395408027ATXN2Lc.2711T>A (p.Leu904Ter)
c.686T>A (p.Leu229Ter)
n.3085T>A
c.2729T>A (p.Leu910Ter)
c.1775T>A (n.1775T>A)
c.689T>A (p.Leu230Ter)
c.231T>A
c.2732T>A (p.Leu911Ter)
c.2714T>A (p.Leu905Ter)
c.2552T>A (p.Leu851Ter)
c.2660T>A (p.Leu887Ter)
c.2642T>A (p.Leu881Ter)
c.2366T>A (p.Leu789Ter)
n.2941T>A
c.2534T>A (p.Leu845Ter)
c.2348T>A (p.Leu783Ter)
n.2944T>A
c.2639T>A (p.Leu880Ter)
c.2705T>A (p.Leu902Ter)
c.2657T>A (p.Leu886Ter)
c.2522T>A (p.Leu841Ter)
16g.28835574T>CCA395408026ATXN2Lc.2711T>C (p.Leu904Ser)
c.686T>C (p.Leu229Ser)
n.3085T>C
c.2729T>C (p.Leu910Ser)
c.1775T>C (n.1775T>C)
c.689T>C (p.Leu230Ser)
c.231T>C
c.2732T>C (p.Leu911Ser)
c.2714T>C (p.Leu905Ser)
c.2552T>C (p.Leu851Ser)
c.2660T>C (p.Leu887Ser)
c.2642T>C (p.Leu881Ser)
c.2366T>C (p.Leu789Ser)
n.2941T>C
c.2534T>C (p.Leu845Ser)
c.2348T>C (p.Leu783Ser)
n.2944T>C
c.2639T>C (p.Leu880Ser)
c.2705T>C (p.Leu902Ser)
c.2657T>C (p.Leu886Ser)
c.2522T>C (p.Leu841Ser)
16g.28835574T>GCA395408024ATXN2Lc.2711T>G (p.Leu904Trp)
c.686T>G (p.Leu229Trp)
n.3085T>G
c.2729T>G (p.Leu910Trp)
c.1775T>G (n.1775T>G)
c.689T>G (p.Leu230Trp)
c.231T>G
c.2732T>G (p.Leu911Trp)
c.2714T>G (p.Leu905Trp)
c.2552T>G (p.Leu851Trp)
c.2660T>G (p.Leu887Trp)
c.2642T>G (p.Leu881Trp)
c.2366T>G (p.Leu789Trp)
n.2941T>G
c.2534T>G (p.Leu845Trp)
c.2348T>G (p.Leu783Trp)
n.2944T>G
c.2639T>G (p.Leu880Trp)
c.2705T>G (p.Leu902Trp)
c.2657T>G (p.Leu886Trp)
c.2522T>G (p.Leu841Trp)
16g.28835575G>ACA494869443ATXN2Lc.2712G>A (p.Leu904=)
c.687G>A (p.Leu229=)
n.3086G>A
c.2730G>A (p.Leu910=)
c.1776G>A (n.1776G>A)
c.690G>A (p.Leu230=)
c.232G>A
c.2733G>A (p.Leu911=)
c.2715G>A (p.Leu905=)
c.2553G>A (p.Leu851=)
c.2661G>A (p.Leu887=)
c.2643G>A (p.Leu881=)
c.2367G>A (p.Leu789=)
n.2942G>A
c.2535G>A (p.Leu845=)
c.2349G>A (p.Leu783=)
n.2945G>A
c.2640G>A (p.Leu880=)
c.2706G>A (p.Leu902=)
c.2658G>A (p.Leu886=)
c.2523G>A (p.Leu841=)
 COSMIC COSMIC COSMIC COSMIC
16g.28835575G>CCA395408029ATXN2Lc.2712G>C (p.Leu904Phe)
c.687G>C (p.Leu229Phe)
n.3086G>C
c.2730G>C (p.Leu910Phe)
c.1776G>C (n.1776G>C)
c.690G>C (p.Leu230Phe)
c.232G>C
c.2733G>C (p.Leu911Phe)
c.2715G>C (p.Leu905Phe)
c.2553G>C (p.Leu851Phe)
c.2661G>C (p.Leu887Phe)
c.2643G>C (p.Leu881Phe)
c.2367G>C (p.Leu789Phe)
n.2942G>C
c.2535G>C (p.Leu845Phe)
c.2349G>C (p.Leu783Phe)
n.2945G>C
c.2640G>C (p.Leu880Phe)
c.2706G>C (p.Leu902Phe)
c.2658G>C (p.Leu886Phe)
c.2523G>C (p.Leu841Phe)
16g.28835575G>TCA395408031ATXN2Lc.2712G>T (p.Leu904Phe)
c.687G>T (p.Leu229Phe)
n.3086G>T
c.2730G>T (p.Leu910Phe)
c.1776G>T (n.1776G>T)
c.690G>T (p.Leu230Phe)
c.232G>T
c.2733G>T (p.Leu911Phe)
c.2715G>T (p.Leu905Phe)
c.2553G>T (p.Leu851Phe)
c.2661G>T (p.Leu887Phe)
c.2643G>T (p.Leu881Phe)
c.2367G>T (p.Leu789Phe)
n.2942G>T
c.2535G>T (p.Leu845Phe)
c.2349G>T (p.Leu783Phe)
n.2945G>T
c.2640G>T (p.Leu880Phe)
c.2706G>T (p.Leu902Phe)
c.2658G>T (p.Leu886Phe)
c.2523G>T (p.Leu841Phe)
16g.28835576G>ACA395408033ATXN2Lc.2713G>A (p.Gly905Ser)
c.688G>A (p.Gly230Ser)
n.3087G>A
c.2731G>A (p.Gly911Ser)
c.1777G>A (n.1777G>A)
c.691G>A (p.Gly231Ser)
c.233G>A
c.2734G>A (p.Gly912Ser)
c.2716G>A (p.Gly906Ser)
c.2554G>A (p.Gly852Ser)
c.2662G>A (p.Gly888Ser)
c.2644G>A (p.Gly882Ser)
c.2368G>A (p.Gly790Ser)
n.2943G>A
c.2536G>A (p.Gly846Ser)
c.2350G>A (p.Gly784Ser)
n.2946G>A
c.2641G>A (p.Gly881Ser)
c.2707G>A (p.Gly903Ser)
c.2659G>A (p.Gly887Ser)
c.2524G>A (p.Gly842Ser)
16g.28835576G>CCA395408035ATXN2Lc.2713G>C (p.Gly905Arg)
c.688G>C (p.Gly230Arg)
n.3087G>C
c.2731G>C (p.Gly911Arg)
c.1777G>C (n.1777G>C)
c.691G>C (p.Gly231Arg)
c.233G>C
c.2734G>C (p.Gly912Arg)
c.2716G>C (p.Gly906Arg)
c.2554G>C (p.Gly852Arg)
c.2662G>C (p.Gly888Arg)
c.2644G>C (p.Gly882Arg)
c.2368G>C (p.Gly790Arg)
n.2943G>C
c.2536G>C (p.Gly846Arg)
c.2350G>C (p.Gly784Arg)
n.2946G>C
c.2641G>C (p.Gly881Arg)
c.2707G>C (p.Gly903Arg)
c.2659G>C (p.Gly887Arg)
c.2524G>C (p.Gly842Arg)
16g.28835576G=CA2215806282ATXN2Lc.2713G= (p.Gly905=)
c.688G= (p.Gly230=)
n.3087G=
c.2731G= (p.Gly911=)
c.1777G= (n.1777G=)
c.691G= (p.Gly231=)
c.233G=
c.2734G= (p.Gly912=)
c.2716G= (p.Gly906=)
c.2554G= (p.Gly852=)
c.2662G= (p.Gly888=)
c.2644G= (p.Gly882=)
c.2368G= (p.Gly790=)
n.2943G=
c.2536G= (p.Gly846=)
c.2350G= (p.Gly784=)
n.2946G=
c.2641G= (p.Gly881=)
c.2707G= (p.Gly903=)
c.2659G= (p.Gly887=)
c.2524G= (p.Gly842=)
16g.28835576G>TCA395408037ATXN2Lc.2713G>T (p.Gly905Cys)
c.688G>T (p.Gly230Cys)
n.3087G>T
c.2731G>T (p.Gly911Cys)
c.1777G>T (n.1777G>T)
c.691G>T (p.Gly231Cys)
c.233G>T
c.2734G>T (p.Gly912Cys)
c.2716G>T (p.Gly906Cys)
c.2554G>T (p.Gly852Cys)
c.2662G>T (p.Gly888Cys)
c.2644G>T (p.Gly882Cys)
c.2368G>T (p.Gly790Cys)
n.2943G>T
c.2536G>T (p.Gly846Cys)
c.2350G>T (p.Gly784Cys)
n.2946G>T
c.2641G>T (p.Gly881Cys)
c.2707G>T (p.Gly903Cys)
c.2659G>T (p.Gly887Cys)
c.2524G>T (p.Gly842Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.28835577G>ACA395408040ATXN2Lc.2714G>A (p.Gly905Asp)
c.689G>A (p.Gly230Asp)
n.3088G>A
c.2732G>A (p.Gly911Asp)
c.1778G>A (n.1778G>A)
c.692G>A (p.Gly231Asp)
c.234G>A
c.2735G>A (p.Gly912Asp)
c.2717G>A (p.Gly906Asp)
c.2555G>A (p.Gly852Asp)
c.2663G>A (p.Gly888Asp)
c.2645G>A (p.Gly882Asp)
c.2369G>A (p.Gly790Asp)
n.2944G>A
c.2537G>A (p.Gly846Asp)
c.2351G>A (p.Gly784Asp)
n.2947G>A
c.2642G>A (p.Gly881Asp)
c.2708G>A (p.Gly903Asp)
c.2660G>A (p.Gly887Asp)
c.2525G>A (p.Gly842Asp)
 gnomAD v4
16g.28835577G>CCA395408042ATXN2Lc.2714G>C (p.Gly905Ala)
c.689G>C (p.Gly230Ala)
n.3088G>C
c.2732G>C (p.Gly911Ala)
c.1778G>C (n.1778G>C)
c.692G>C (p.Gly231Ala)
c.234G>C
c.2735G>C (p.Gly912Ala)
c.2717G>C (p.Gly906Ala)
c.2555G>C (p.Gly852Ala)
c.2663G>C (p.Gly888Ala)
c.2645G>C (p.Gly882Ala)
c.2369G>C (p.Gly790Ala)
n.2944G>C
c.2537G>C (p.Gly846Ala)
c.2351G>C (p.Gly784Ala)
n.2947G>C
c.2642G>C (p.Gly881Ala)
c.2708G>C (p.Gly903Ala)
c.2660G>C (p.Gly887Ala)
c.2525G>C (p.Gly842Ala)
16g.28835577G>TCA395408044ATXN2Lc.2714G>T (p.Gly905Val)
c.689G>T (p.Gly230Val)
n.3088G>T
c.2732G>T (p.Gly911Val)
c.1778G>T (n.1778G>T)
c.692G>T (p.Gly231Val)
c.234G>T
c.2735G>T (p.Gly912Val)
c.2717G>T (p.Gly906Val)
c.2555G>T (p.Gly852Val)
c.2663G>T (p.Gly888Val)
c.2645G>T (p.Gly882Val)
c.2369G>T (p.Gly790Val)
n.2944G>T
c.2537G>T (p.Gly846Val)
c.2351G>T (p.Gly784Val)
n.2947G>T
c.2642G>T (p.Gly881Val)
c.2708G>T (p.Gly903Val)
c.2660G>T (p.Gly887Val)
c.2525G>T (p.Gly842Val)
 gnomAD v4
16g.28835578C>ACA494869460ATXN2Lc.2715C>A (p.Gly905=)
c.690C>A (p.Gly230=)
n.3089C>A
c.2733C>A (p.Gly911=)
c.1779C>A (n.1779C>A)
c.693C>A (p.Gly231=)
c.235C>A
c.2736C>A (p.Gly912=)
c.2718C>A (p.Gly906=)
c.2556C>A (p.Gly852=)
c.2664C>A (p.Gly888=)
c.2646C>A (p.Gly882=)
c.2370C>A (p.Gly790=)
n.2945C>A
c.2538C>A (p.Gly846=)
c.2352C>A (p.Gly784=)
n.2948C>A
c.2643C>A (p.Gly881=)
c.2709C>A (p.Gly903=)
c.2661C>A (p.Gly887=)
c.2526C>A (p.Gly842=)
16g.28835578C=CA2215806287ATXN2Lc.2715C= (p.Gly905=)
c.690C= (p.Gly230=)
n.3089C=
c.2733C= (p.Gly911=)
c.1779C= (n.1779C=)
c.693C= (p.Gly231=)
c.235C=
c.2736C= (p.Gly912=)
c.2718C= (p.Gly906=)
c.2556C= (p.Gly852=)
c.2664C= (p.Gly888=)
c.2646C= (p.Gly882=)
c.2370C= (p.Gly790=)
n.2945C=
c.2538C= (p.Gly846=)
c.2352C= (p.Gly784=)
n.2948C=
c.2643C= (p.Gly881=)
c.2709C= (p.Gly903=)
c.2661C= (p.Gly887=)
c.2526C= (p.Gly842=)
16g.28835578C>GCA494869463ATXN2Lc.2715C>G (p.Gly905=)
c.690C>G (p.Gly230=)
n.3089C>G
c.2733C>G (p.Gly911=)
c.1779C>G (n.1779C>G)
c.693C>G (p.Gly231=)
c.235C>G
c.2736C>G (p.Gly912=)
c.2718C>G (p.Gly906=)
c.2556C>G (p.Gly852=)
c.2664C>G (p.Gly888=)
c.2646C>G (p.Gly882=)
c.2370C>G (p.Gly790=)
n.2945C>G
c.2538C>G (p.Gly846=)
c.2352C>G (p.Gly784=)
n.2948C>G
c.2643C>G (p.Gly881=)
c.2709C>G (p.Gly903=)
c.2661C>G (p.Gly887=)
c.2526C>G (p.Gly842=)
 dbSNP gnomAD v2 gnomAD v4
16g.28835578C>TCA494869466ATXN2Lc.2715C>T (p.Gly905=)
c.690C>T (p.Gly230=)
n.3089C>T
c.2733C>T (p.Gly911=)
c.1779C>T (n.1779C>T)
c.693C>T (p.Gly231=)
c.235C>T
c.2736C>T (p.Gly912=)
c.2718C>T (p.Gly906=)
c.2556C>T (p.Gly852=)
c.2664C>T (p.Gly888=)
c.2646C>T (p.Gly882=)
c.2370C>T (p.Gly790=)
n.2945C>T
c.2538C>T (p.Gly846=)
c.2352C>T (p.Gly784=)
n.2948C>T
c.2643C>T (p.Gly881=)
c.2709C>T (p.Gly903=)
c.2661C>T (p.Gly887=)
c.2526C>T (p.Gly842=)
16g.28835579A=CA2215806290ATXN2Lc.2716A= (p.Ser906=)
c.691A= (p.Ser231=)
n.3090A=
c.2734A= (p.Ser912=)
c.1780A= (n.1780A=)
c.694A= (p.Ser232=)
c.236A=
c.2737A= (p.Ser913=)
c.2719A= (p.Ser907=)
c.2557A= (p.Ser853=)
c.2665A= (p.Ser889=)
c.2647A= (p.Ser883=)
c.2371A= (p.Ser791=)
n.2946A=
c.2539A= (p.Ser847=)
c.2353A= (p.Ser785=)
n.2949A=
c.2644A= (p.Ser882=)
c.2710A= (p.Ser904=)
c.2662A= (p.Ser888=)
c.2527A= (p.Ser843=)
16g.28835579A>CCA395408046ATXN2Lc.2716A>C (p.Ser906Arg)
c.691A>C (p.Ser231Arg)
n.3090A>C
c.2734A>C (p.Ser912Arg)
c.1780A>C (n.1780A>C)
c.694A>C (p.Ser232Arg)
c.236A>C
c.2737A>C (p.Ser913Arg)
c.2719A>C (p.Ser907Arg)
c.2557A>C (p.Ser853Arg)
c.2665A>C (p.Ser889Arg)
c.2647A>C (p.Ser883Arg)
c.2371A>C (p.Ser791Arg)
n.2946A>C
c.2539A>C (p.Ser847Arg)
c.2353A>C (p.Ser785Arg)
n.2949A>C
c.2644A>C (p.Ser882Arg)
c.2710A>C (p.Ser904Arg)
c.2662A>C (p.Ser888Arg)
c.2527A>C (p.Ser843Arg)
16g.28835579A>GCA7985079ATXN2Lc.2716A>G (p.Ser906Gly)
c.691A>G (p.Ser231Gly)
n.3090A>G
c.2734A>G (p.Ser912Gly)
c.1780A>G (n.1780A>G)
c.694A>G (p.Ser232Gly)
c.236A>G
c.2737A>G (p.Ser913Gly)
c.2719A>G (p.Ser907Gly)
c.2557A>G (p.Ser853Gly)
c.2665A>G (p.Ser889Gly)
c.2647A>G (p.Ser883Gly)
c.2371A>G (p.Ser791Gly)
n.2946A>G
c.2539A>G (p.Ser847Gly)
c.2353A>G (p.Ser785Gly)
n.2949A>G
c.2644A>G (p.Ser882Gly)
c.2710A>G (p.Ser904Gly)
c.2662A>G (p.Ser888Gly)
c.2527A>G (p.Ser843Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835579A>TCA395408048ATXN2Lc.2716A>T (p.Ser906Cys)
c.691A>T (p.Ser231Cys)
n.3090A>T
c.2734A>T (p.Ser912Cys)
c.1780A>T (n.1780A>T)
c.694A>T (p.Ser232Cys)
c.236A>T
c.2737A>T (p.Ser913Cys)
c.2719A>T (p.Ser907Cys)
c.2557A>T (p.Ser853Cys)
c.2665A>T (p.Ser889Cys)
c.2647A>T (p.Ser883Cys)
c.2371A>T (p.Ser791Cys)
n.2946A>T
c.2539A>T (p.Ser847Cys)
c.2353A>T (p.Ser785Cys)
n.2949A>T
c.2644A>T (p.Ser882Cys)
c.2710A>T (p.Ser904Cys)
c.2662A>T (p.Ser888Cys)
c.2527A>T (p.Ser843Cys)
16g.28835580G>ACA7985080ATXN2Lc.2717G>A (p.Ser906Asn)
c.692G>A (p.Ser231Asn)
n.3091G>A
c.2735G>A (p.Ser912Asn)
c.1781G>A (n.1781G>A)
c.695G>A (p.Ser232Asn)
c.237G>A
c.2738G>A (p.Ser913Asn)
c.2720G>A (p.Ser907Asn)
c.2558G>A (p.Ser853Asn)
c.2666G>A (p.Ser889Asn)
c.2648G>A (p.Ser883Asn)
c.2372G>A (p.Ser791Asn)
n.2947G>A
c.2540G>A (p.Ser847Asn)
c.2354G>A (p.Ser785Asn)
n.2950G>A
c.2645G>A (p.Ser882Asn)
c.2711G>A (p.Ser904Asn)
c.2663G>A (p.Ser888Asn)
c.2528G>A (p.Ser843Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835580G>CCA7985081ATXN2Lc.2717G>C (p.Ser906Thr)
c.692G>C (p.Ser231Thr)
n.3091G>C
c.2735G>C (p.Ser912Thr)
c.1781G>C (n.1781G>C)
c.695G>C (p.Ser232Thr)
c.237G>C
c.2738G>C (p.Ser913Thr)
c.2720G>C (p.Ser907Thr)
c.2558G>C (p.Ser853Thr)
c.2666G>C (p.Ser889Thr)
c.2648G>C (p.Ser883Thr)
c.2372G>C (p.Ser791Thr)
n.2947G>C
c.2540G>C (p.Ser847Thr)
c.2354G>C (p.Ser785Thr)
n.2950G>C
c.2645G>C (p.Ser882Thr)
c.2711G>C (p.Ser904Thr)
c.2663G>C (p.Ser888Thr)
c.2528G>C (p.Ser843Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835580G=CA2215806294ATXN2Lc.2717G= (p.Ser906=)
c.692G= (p.Ser231=)
n.3091G=
c.2735G= (p.Ser912=)
c.1781G= (n.1781G=)
c.695G= (p.Ser232=)
c.237G=
c.2738G= (p.Ser913=)
c.2720G= (p.Ser907=)
c.2558G= (p.Ser853=)
c.2666G= (p.Ser889=)
c.2648G= (p.Ser883=)
c.2372G= (p.Ser791=)
n.2947G=
c.2540G= (p.Ser847=)
c.2354G= (p.Ser785=)
n.2950G=
c.2645G= (p.Ser882=)
c.2711G= (p.Ser904=)
c.2663G= (p.Ser888=)
c.2528G= (p.Ser843=)
16g.28835580G>TCA395408051ATXN2Lc.2717G>T (p.Ser906Ile)
c.692G>T (p.Ser231Ile)
n.3091G>T
c.2735G>T (p.Ser912Ile)
c.1781G>T (n.1781G>T)
c.695G>T (p.Ser232Ile)
c.237G>T
c.2738G>T (p.Ser913Ile)
c.2720G>T (p.Ser907Ile)
c.2558G>T (p.Ser853Ile)
c.2666G>T (p.Ser889Ile)
c.2648G>T (p.Ser883Ile)
c.2372G>T (p.Ser791Ile)
n.2947G>T
c.2540G>T (p.Ser847Ile)
c.2354G>T (p.Ser785Ile)
n.2950G>T
c.2645G>T (p.Ser882Ile)
c.2711G>T (p.Ser904Ile)
c.2663G>T (p.Ser888Ile)
c.2528G>T (p.Ser843Ile)
 gnomAD v4
16g.28835581T>ACA395408052ATXN2Lc.2718T>A (p.Ser906Arg)
c.693T>A (p.Ser231Arg)
n.3092T>A
c.2736T>A (p.Ser912Arg)
c.1782T>A (n.1782T>A)
c.696T>A (p.Ser232Arg)
c.238T>A
c.2739T>A (p.Ser913Arg)
c.2721T>A (p.Ser907Arg)
c.2559T>A (p.Ser853Arg)
c.2667T>A (p.Ser889Arg)
c.2649T>A (p.Ser883Arg)
c.2373T>A (p.Ser791Arg)
n.2948T>A
c.2541T>A (p.Ser847Arg)
c.2355T>A (p.Ser785Arg)
n.2951T>A
c.2646T>A (p.Ser882Arg)
c.2712T>A (p.Ser904Arg)
c.2664T>A (p.Ser888Arg)
c.2529T>A (p.Ser843Arg)
16g.28835581T>CCA494868221ATXN2Lc.2718T>C (p.Ser906=)
c.693T>C (p.Ser231=)
n.3092T>C
c.2736T>C (p.Ser912=)
c.1782T>C (n.1782T>C)
c.696T>C (p.Ser232=)
c.238T>C
c.2739T>C (p.Ser913=)
c.2721T>C (p.Ser907=)
c.2559T>C (p.Ser853=)
c.2667T>C (p.Ser889=)
c.2649T>C (p.Ser883=)
c.2373T>C (p.Ser791=)
n.2948T>C
c.2541T>C (p.Ser847=)
c.2355T>C (p.Ser785=)
n.2951T>C
c.2646T>C (p.Ser882=)
c.2712T>C (p.Ser904=)
c.2664T>C (p.Ser888=)
c.2529T>C (p.Ser843=)
16g.28835581T>GCA395408054ATXN2Lc.2718T>G (p.Ser906Arg)
c.693T>G (p.Ser231Arg)
n.3092T>G
c.2736T>G (p.Ser912Arg)
c.1782T>G (n.1782T>G)
c.696T>G (p.Ser232Arg)
c.238T>G
c.2739T>G (p.Ser913Arg)
c.2721T>G (p.Ser907Arg)
c.2559T>G (p.Ser853Arg)
c.2667T>G (p.Ser889Arg)
c.2649T>G (p.Ser883Arg)
c.2373T>G (p.Ser791Arg)
n.2948T>G
c.2541T>G (p.Ser847Arg)
c.2355T>G (p.Ser785Arg)
n.2951T>G
c.2646T>G (p.Ser882Arg)
c.2712T>G (p.Ser904Arg)
c.2664T>G (p.Ser888Arg)
c.2529T>G (p.Ser843Arg)
16g.28835582G>ACA395408055ATXN2Lc.2719G>A (p.Gly907Arg)
c.694G>A (p.Gly232Arg)
n.3093G>A
c.2737G>A (p.Gly913Arg)
c.1783G>A (n.1783G>A)
c.697G>A (p.Gly233Arg)
c.239G>A
c.2740G>A (p.Gly914Arg)
c.2722G>A (p.Gly908Arg)
c.2560G>A (p.Gly854Arg)
c.2668G>A (p.Gly890Arg)
c.2650G>A (p.Gly884Arg)
c.2374G>A (p.Gly792Arg)
n.2949G>A
c.2542G>A (p.Gly848Arg)
c.2356G>A (p.Gly786Arg)
n.2952G>A
c.2647G>A (p.Gly883Arg)
c.2713G>A (p.Gly905Arg)
c.2665G>A (p.Gly889Arg)
c.2530G>A (p.Gly844Arg)
16g.28835582G>CCA395408056ATXN2Lc.2719G>C (p.Gly907Arg)
c.694G>C (p.Gly232Arg)
n.3093G>C
c.2737G>C (p.Gly913Arg)
c.1783G>C (n.1783G>C)
c.697G>C (p.Gly233Arg)
c.239G>C
c.2740G>C (p.Gly914Arg)
c.2722G>C (p.Gly908Arg)
c.2560G>C (p.Gly854Arg)
c.2668G>C (p.Gly890Arg)
c.2650G>C (p.Gly884Arg)
c.2374G>C (p.Gly792Arg)
n.2949G>C
c.2542G>C (p.Gly848Arg)
c.2356G>C (p.Gly786Arg)
n.2952G>C
c.2647G>C (p.Gly883Arg)
c.2713G>C (p.Gly905Arg)
c.2665G>C (p.Gly889Arg)
c.2530G>C (p.Gly844Arg)
16g.28835582G>TCA395408058ATXN2Lc.2719G>T (p.Gly907Ter)
c.694G>T (p.Gly232Ter)
n.3093G>T
c.2737G>T (p.Gly913Ter)
c.1783G>T (n.1783G>T)
c.697G>T (p.Gly233Ter)
c.239G>T
c.2740G>T (p.Gly914Ter)
c.2722G>T (p.Gly908Ter)
c.2560G>T (p.Gly854Ter)
c.2668G>T (p.Gly890Ter)
c.2650G>T (p.Gly884Ter)
c.2374G>T (p.Gly792Ter)
n.2949G>T
c.2542G>T (p.Gly848Ter)
c.2356G>T (p.Gly786Ter)
n.2952G>T
c.2647G>T (p.Gly883Ter)
c.2713G>T (p.Gly905Ter)
c.2665G>T (p.Gly889Ter)
c.2530G>T (p.Gly844Ter)
16g.28835583G>ACA395408061ATXN2Lc.2720G>A (p.Gly907Glu)
c.695G>A (p.Gly232Glu)
n.3094G>A
c.2738G>A (p.Gly913Glu)
c.1784G>A (n.1784G>A)
c.698G>A (p.Gly233Glu)
c.240G>A
c.2741G>A (p.Gly914Glu)
c.2723G>A (p.Gly908Glu)
c.2561G>A (p.Gly854Glu)
c.2669G>A (p.Gly890Glu)
c.2651G>A (p.Gly884Glu)
c.2375G>A (p.Gly792Glu)
n.2950G>A
c.2543G>A (p.Gly848Glu)
c.2357G>A (p.Gly786Glu)
n.2953G>A
c.2648G>A (p.Gly883Glu)
c.2714G>A (p.Gly905Glu)
c.2666G>A (p.Gly889Glu)
c.2531G>A (p.Gly844Glu)
16g.28835583G>CCA395408062ATXN2Lc.2720G>C (p.Gly907Ala)
c.695G>C (p.Gly232Ala)
n.3094G>C
c.2738G>C (p.Gly913Ala)
c.1784G>C (n.1784G>C)
c.698G>C (p.Gly233Ala)
c.240G>C
c.2741G>C (p.Gly914Ala)
c.2723G>C (p.Gly908Ala)
c.2561G>C (p.Gly854Ala)
c.2669G>C (p.Gly890Ala)
c.2651G>C (p.Gly884Ala)
c.2375G>C (p.Gly792Ala)
n.2950G>C
c.2543G>C (p.Gly848Ala)
c.2357G>C (p.Gly786Ala)
n.2953G>C
c.2648G>C (p.Gly883Ala)
c.2714G>C (p.Gly905Ala)
c.2666G>C (p.Gly889Ala)
c.2531G>C (p.Gly844Ala)
16g.28835583G>TCA395408063ATXN2Lc.2720G>T (p.Gly907Val)
c.695G>T (p.Gly232Val)
n.3094G>T
c.2738G>T (p.Gly913Val)
c.1784G>T (n.1784G>T)
c.698G>T (p.Gly233Val)
c.240G>T
c.2741G>T (p.Gly914Val)
c.2723G>T (p.Gly908Val)
c.2561G>T (p.Gly854Val)
c.2669G>T (p.Gly890Val)
c.2651G>T (p.Gly884Val)
c.2375G>T (p.Gly792Val)
n.2950G>T
c.2543G>T (p.Gly848Val)
c.2357G>T (p.Gly786Val)
n.2953G>T
c.2648G>T (p.Gly883Val)
c.2714G>T (p.Gly905Val)
c.2666G>T (p.Gly889Val)
c.2531G>T (p.Gly844Val)
16g.28835584A>CCA494868244ATXN2Lc.2721A>C (p.Gly907=)
c.696A>C (p.Gly232=)
n.3095A>C
c.2739A>C (p.Gly913=)
c.1785A>C (n.1785A>C)
c.699A>C (p.Gly233=)
c.241A>C
c.2742A>C (p.Gly914=)
c.2724A>C (p.Gly908=)
c.2562A>C (p.Gly854=)
c.2670A>C (p.Gly890=)
c.2652A>C (p.Gly884=)
c.2376A>C (p.Gly792=)
n.2951A>C
c.2544A>C (p.Gly848=)
c.2358A>C (p.Gly786=)
n.2954A>C
c.2649A>C (p.Gly883=)
c.2715A>C (p.Gly905=)
c.2667A>C (p.Gly889=)
c.2532A>C (p.Gly844=)
16g.28835584A>GCA494868241ATXN2Lc.2721A>G (p.Gly907=)
c.696A>G (p.Gly232=)
n.3095A>G
c.2739A>G (p.Gly913=)
c.1785A>G (n.1785A>G)
c.699A>G (p.Gly233=)
c.241A>G
c.2742A>G (p.Gly914=)
c.2724A>G (p.Gly908=)
c.2562A>G (p.Gly854=)
c.2670A>G (p.Gly890=)
c.2652A>G (p.Gly884=)
c.2376A>G (p.Gly792=)
n.2951A>G
c.2544A>G (p.Gly848=)
c.2358A>G (p.Gly786=)
n.2954A>G
c.2649A>G (p.Gly883=)
c.2715A>G (p.Gly905=)
c.2667A>G (p.Gly889=)
c.2532A>G (p.Gly844=)
16g.28835584A>TCA494868239ATXN2Lc.2721A>T (p.Gly907=)
c.696A>T (p.Gly232=)
n.3095A>T
c.2739A>T (p.Gly913=)
c.1785A>T (n.1785A>T)
c.699A>T (p.Gly233=)
c.241A>T
c.2742A>T (p.Gly914=)
c.2724A>T (p.Gly908=)
c.2562A>T (p.Gly854=)
c.2670A>T (p.Gly890=)
c.2652A>T (p.Gly884=)
c.2376A>T (p.Gly792=)
n.2951A>T
c.2544A>T (p.Gly848=)
c.2358A>T (p.Gly786=)
n.2954A>T
c.2649A>T (p.Gly883=)
c.2715A>T (p.Gly905=)
c.2667A>T (p.Gly889=)
c.2532A>T (p.Gly844=)
16g.28835585C>ACA395408066ATXN2Lc.2722C>A (p.Gln908Lys)
c.697C>A (p.Gln233Lys)
n.3096C>A
c.2740C>A (p.Gln914Lys)
c.1786C>A (n.1786C>A)
c.700C>A (p.Gln234Lys)
c.242C>A
c.2743C>A (p.Gln915Lys)
c.2725C>A (p.Gln909Lys)
c.2563C>A (p.Gln855Lys)
c.2671C>A (p.Gln891Lys)
c.2653C>A (p.Gln885Lys)
c.2377C>A (p.Gln793Lys)
n.2952C>A
c.2545C>A (p.Gln849Lys)
c.2359C>A (p.Gln787Lys)
n.2955C>A
c.2650C>A (p.Gln884Lys)
c.2716C>A (p.Gln906Lys)
c.2668C>A (p.Gln890Lys)
c.2533C>A (p.Gln845Lys)
16g.28835585C>GCA395408068ATXN2Lc.2722C>G (p.Gln908Glu)
c.697C>G (p.Gln233Glu)
n.3096C>G
c.2740C>G (p.Gln914Glu)
c.1786C>G (n.1786C>G)
c.700C>G (p.Gln234Glu)
c.242C>G
c.2743C>G (p.Gln915Glu)
c.2725C>G (p.Gln909Glu)
c.2563C>G (p.Gln855Glu)
c.2671C>G (p.Gln891Glu)
c.2653C>G (p.Gln885Glu)
c.2377C>G (p.Gln793Glu)
n.2952C>G
c.2545C>G (p.Gln849Glu)
c.2359C>G (p.Gln787Glu)
n.2955C>G
c.2650C>G (p.Gln884Glu)
c.2716C>G (p.Gln906Glu)
c.2668C>G (p.Gln890Glu)
c.2533C>G (p.Gln845Glu)
16g.28835585C>TCA395408069ATXN2Lc.2722C>T (p.Gln908Ter)
c.697C>T (p.Gln233Ter)
n.3096C>T
c.2740C>T (p.Gln914Ter)
c.1786C>T (n.1786C>T)
c.700C>T (p.Gln234Ter)
c.242C>T
c.2743C>T (p.Gln915Ter)
c.2725C>T (p.Gln909Ter)
c.2563C>T (p.Gln855Ter)
c.2671C>T (p.Gln891Ter)
c.2653C>T (p.Gln885Ter)
c.2377C>T (p.Gln793Ter)
n.2952C>T
c.2545C>T (p.Gln849Ter)
c.2359C>T (p.Gln787Ter)
n.2955C>T
c.2650C>T (p.Gln884Ter)
c.2716C>T (p.Gln906Ter)
c.2668C>T (p.Gln890Ter)
c.2533C>T (p.Gln845Ter)
16g.28835586A>CCA395408070ATXN2Lc.2723A>C (p.Gln908Pro)
c.698A>C (p.Gln233Pro)
n.3097A>C
c.2741A>C (p.Gln914Pro)
c.1787A>C (n.1787A>C)
c.701A>C (p.Gln234Pro)
c.243A>C
c.2744A>C (p.Gln915Pro)
c.2726A>C (p.Gln909Pro)
c.2564A>C (p.Gln855Pro)
c.2672A>C (p.Gln891Pro)
c.2654A>C (p.Gln885Pro)
c.2378A>C (p.Gln793Pro)
n.2953A>C
c.2546A>C (p.Gln849Pro)
c.2360A>C (p.Gln787Pro)
n.2956A>C
c.2651A>C (p.Gln884Pro)
c.2717A>C (p.Gln906Pro)
c.2669A>C (p.Gln890Pro)
c.2534A>C (p.Gln845Pro)
16g.28835586A>GCA395408072ATXN2Lc.2723A>G (p.Gln908Arg)
c.698A>G (p.Gln233Arg)
n.3097A>G
c.2741A>G (p.Gln914Arg)
c.1787A>G (n.1787A>G)
c.701A>G (p.Gln234Arg)
c.243A>G
c.2744A>G (p.Gln915Arg)
c.2726A>G (p.Gln909Arg)
c.2564A>G (p.Gln855Arg)
c.2672A>G (p.Gln891Arg)
c.2654A>G (p.Gln885Arg)
c.2378A>G (p.Gln793Arg)
n.2953A>G
c.2546A>G (p.Gln849Arg)
c.2360A>G (p.Gln787Arg)
n.2956A>G
c.2651A>G (p.Gln884Arg)
c.2717A>G (p.Gln906Arg)
c.2669A>G (p.Gln890Arg)
c.2534A>G (p.Gln845Arg)
16g.28835586A>TCA395408074ATXN2Lc.2723A>T (p.Gln908Leu)
c.698A>T (p.Gln233Leu)
n.3097A>T
c.2741A>T (p.Gln914Leu)
c.1787A>T (n.1787A>T)
c.701A>T (p.Gln234Leu)
c.243A>T
c.2744A>T (p.Gln915Leu)
c.2726A>T (p.Gln909Leu)
c.2564A>T (p.Gln855Leu)
c.2672A>T (p.Gln891Leu)
c.2654A>T (p.Gln885Leu)
c.2378A>T (p.Gln793Leu)
n.2953A>T
c.2546A>T (p.Gln849Leu)
c.2360A>T (p.Gln787Leu)
n.2956A>T
c.2651A>T (p.Gln884Leu)
c.2717A>T (p.Gln906Leu)
c.2669A>T (p.Gln890Leu)
c.2534A>T (p.Gln845Leu)
16g.28835587G>ACA494868275ATXN2Lc.2724G>A (p.Gln908=)
c.699G>A (p.Gln233=)
n.3098G>A
c.2742G>A (p.Gln914=)
c.1788G>A (n.1788G>A)
c.702G>A (p.Gln234=)
c.244G>A
c.2745G>A (p.Gln915=)
c.2727G>A (p.Gln909=)
c.2565G>A (p.Gln855=)
c.2673G>A (p.Gln891=)
c.2655G>A (p.Gln885=)
c.2379G>A (p.Gln793=)
n.2954G>A
c.2547G>A (p.Gln849=)
c.2361G>A (p.Gln787=)
n.2957G>A
c.2652G>A (p.Gln884=)
c.2718G>A (p.Gln906=)
c.2670G>A (p.Gln890=)
c.2535G>A (p.Gln845=)
16g.28835587G>CCA395408076ATXN2Lc.2724G>C (p.Gln908His)
c.699G>C (p.Gln233His)
n.3098G>C
c.2742G>C (p.Gln914His)
c.1788G>C (n.1788G>C)
c.702G>C (p.Gln234His)
c.244G>C
c.2745G>C (p.Gln915His)
c.2727G>C (p.Gln909His)
c.2565G>C (p.Gln855His)
c.2673G>C (p.Gln891His)
c.2655G>C (p.Gln885His)
c.2379G>C (p.Gln793His)
n.2954G>C
c.2547G>C (p.Gln849His)
c.2361G>C (p.Gln787His)
n.2957G>C
c.2652G>C (p.Gln884His)
c.2718G>C (p.Gln906His)
c.2670G>C (p.Gln890His)
c.2535G>C (p.Gln845His)
16g.28835587G>TCA395408077ATXN2Lc.2724G>T (p.Gln908His)
c.699G>T (p.Gln233His)
n.3098G>T
c.2742G>T (p.Gln914His)
c.1788G>T (n.1788G>T)
c.702G>T (p.Gln234His)
c.244G>T
c.2745G>T (p.Gln915His)
c.2727G>T (p.Gln909His)
c.2565G>T (p.Gln855His)
c.2673G>T (p.Gln891His)
c.2655G>T (p.Gln885His)
c.2379G>T (p.Gln793His)
n.2954G>T
c.2547G>T (p.Gln849His)
c.2361G>T (p.Gln787His)
n.2957G>T
c.2652G>T (p.Gln884His)
c.2718G>T (p.Gln906His)
c.2670G>T (p.Gln890His)
c.2535G>T (p.Gln845His)
16g.28835588C>ACA395408080ATXN2Lc.2725C>A (p.Pro909Thr)
c.700C>A (p.Pro234Thr)
n.3099C>A
c.2743C>A (p.Pro915Thr)
c.1789C>A (n.1789C>A)
c.703C>A (p.Pro235Thr)
c.245C>A
c.2746C>A (p.Pro916Thr)
c.2728C>A (p.Pro910Thr)
c.2566C>A (p.Pro856Thr)
c.2674C>A (p.Pro892Thr)
c.2656C>A (p.Pro886Thr)
c.2380C>A (p.Pro794Thr)
n.2955C>A
c.2548C>A (p.Pro850Thr)
c.2362C>A (p.Pro788Thr)
n.2958C>A
c.2653C>A (p.Pro885Thr)
c.2719C>A (p.Pro907Thr)
c.2671C>A (p.Pro891Thr)
c.2536C>A (p.Pro846Thr)
16g.28835588C>GCA395408084ATXN2Lc.2725C>G (p.Pro909Ala)
c.700C>G (p.Pro234Ala)
n.3099C>G
c.2743C>G (p.Pro915Ala)
c.1789C>G (n.1789C>G)
c.703C>G (p.Pro235Ala)
c.245C>G
c.2746C>G (p.Pro916Ala)
c.2728C>G (p.Pro910Ala)
c.2566C>G (p.Pro856Ala)
c.2674C>G (p.Pro892Ala)
c.2656C>G (p.Pro886Ala)
c.2380C>G (p.Pro794Ala)
n.2955C>G
c.2548C>G (p.Pro850Ala)
c.2362C>G (p.Pro788Ala)
n.2958C>G
c.2653C>G (p.Pro885Ala)
c.2719C>G (p.Pro907Ala)
c.2671C>G (p.Pro891Ala)
c.2536C>G (p.Pro846Ala)
16g.28835588C>TCA395408082ATXN2Lc.2725C>T (p.Pro909Ser)
c.700C>T (p.Pro234Ser)
n.3099C>T
c.2743C>T (p.Pro915Ser)
c.1789C>T (n.1789C>T)
c.703C>T (p.Pro235Ser)
c.245C>T
c.2746C>T (p.Pro916Ser)
c.2728C>T (p.Pro910Ser)
c.2566C>T (p.Pro856Ser)
c.2674C>T (p.Pro892Ser)
c.2656C>T (p.Pro886Ser)
c.2380C>T (p.Pro794Ser)
n.2955C>T
c.2548C>T (p.Pro850Ser)
c.2362C>T (p.Pro788Ser)
n.2958C>T
c.2653C>T (p.Pro885Ser)
c.2719C>T (p.Pro907Ser)
c.2671C>T (p.Pro891Ser)
c.2536C>T (p.Pro846Ser)
16g.28835589C>ACA395408086ATXN2Lc.2726C>A (p.Pro909Gln)
c.701C>A (p.Pro234Gln)
n.3100C>A
c.2744C>A (p.Pro915Gln)
c.1790C>A (n.1790C>A)
c.704C>A (p.Pro235Gln)
c.246C>A
c.2747C>A (p.Pro916Gln)
c.2729C>A (p.Pro910Gln)
c.2567C>A (p.Pro856Gln)
c.2675C>A (p.Pro892Gln)
c.2657C>A (p.Pro886Gln)
c.2381C>A (p.Pro794Gln)
n.2956C>A
c.2549C>A (p.Pro850Gln)
c.2363C>A (p.Pro788Gln)
n.2959C>A
c.2654C>A (p.Pro885Gln)
c.2720C>A (p.Pro907Gln)
c.2672C>A (p.Pro891Gln)
c.2537C>A (p.Pro846Gln)
16g.28835589C>GCA395408090ATXN2Lc.2726C>G (p.Pro909Arg)
c.701C>G (p.Pro234Arg)
n.3100C>G
c.2744C>G (p.Pro915Arg)
c.1790C>G (n.1790C>G)
c.704C>G (p.Pro235Arg)
c.246C>G
c.2747C>G (p.Pro916Arg)
c.2729C>G (p.Pro910Arg)
c.2567C>G (p.Pro856Arg)
c.2675C>G (p.Pro892Arg)
c.2657C>G (p.Pro886Arg)
c.2381C>G (p.Pro794Arg)
n.2956C>G
c.2549C>G (p.Pro850Arg)
c.2363C>G (p.Pro788Arg)
n.2959C>G
c.2654C>G (p.Pro885Arg)
c.2720C>G (p.Pro907Arg)
c.2672C>G (p.Pro891Arg)
c.2537C>G (p.Pro846Arg)
16g.28835589C>TCA395408088ATXN2Lc.2726C>T (p.Pro909Leu)
c.701C>T (p.Pro234Leu)
n.3100C>T
c.2744C>T (p.Pro915Leu)
c.1790C>T (n.1790C>T)
c.704C>T (p.Pro235Leu)
c.246C>T
c.2747C>T (p.Pro916Leu)
c.2729C>T (p.Pro910Leu)
c.2567C>T (p.Pro856Leu)
c.2675C>T (p.Pro892Leu)
c.2657C>T (p.Pro886Leu)
c.2381C>T (p.Pro794Leu)
n.2956C>T
c.2549C>T (p.Pro850Leu)
c.2363C>T (p.Pro788Leu)
n.2959C>T
c.2654C>T (p.Pro885Leu)
c.2720C>T (p.Pro907Leu)
c.2672C>T (p.Pro891Leu)
c.2537C>T (p.Pro846Leu)
16g.28835590A=CA2215806296ATXN2Lc.2727A= (p.Pro909=)
c.702A= (p.Pro234=)
n.3101A=
c.2745A= (p.Pro915=)
c.1791A= (n.1791A=)
c.705A= (p.Pro235=)
c.247A=
c.2748A= (p.Pro916=)
c.2730A= (p.Pro910=)
c.2568A= (p.Pro856=)
c.2676A= (p.Pro892=)
c.2658A= (p.Pro886=)
c.2382A= (p.Pro794=)
n.2957A=
c.2550A= (p.Pro850=)
c.2364A= (p.Pro788=)
n.2960A=
c.2655A= (p.Pro885=)
c.2721A= (p.Pro907=)
c.2673A= (p.Pro891=)
c.2538A= (p.Pro846=)
16g.28835590A>CCA494868276ATXN2Lc.2727A>C (p.Pro909=)
c.702A>C (p.Pro234=)
n.3101A>C
c.2745A>C (p.Pro915=)
c.1791A>C (n.1791A>C)
c.705A>C (p.Pro235=)
c.247A>C
c.2748A>C (p.Pro916=)
c.2730A>C (p.Pro910=)
c.2568A>C (p.Pro856=)
c.2676A>C (p.Pro892=)
c.2658A>C (p.Pro886=)
c.2382A>C (p.Pro794=)
n.2957A>C
c.2550A>C (p.Pro850=)
c.2364A>C (p.Pro788=)
n.2960A>C
c.2655A>C (p.Pro885=)
c.2721A>C (p.Pro907=)
c.2673A>C (p.Pro891=)
c.2538A>C (p.Pro846=)
16g.28835590A>GCA7985082ATXN2Lc.2727A>G (p.Pro909=)
c.702A>G (p.Pro234=)
n.3101A>G
c.2745A>G (p.Pro915=)
c.1791A>G (n.1791A>G)
c.705A>G (p.Pro235=)
c.247A>G
c.2748A>G (p.Pro916=)
c.2730A>G (p.Pro910=)
c.2568A>G (p.Pro856=)
c.2676A>G (p.Pro892=)
c.2658A>G (p.Pro886=)
c.2382A>G (p.Pro794=)
n.2957A>G
c.2550A>G (p.Pro850=)
c.2364A>G (p.Pro788=)
n.2960A>G
c.2655A>G (p.Pro885=)
c.2721A>G (p.Pro907=)
c.2673A>G (p.Pro891=)
c.2538A>G (p.Pro846=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835590A>TCA494868278ATXN2Lc.2727A>T (p.Pro909=)
c.702A>T (p.Pro234=)
n.3101A>T
c.2745A>T (p.Pro915=)
c.1791A>T (n.1791A>T)
c.705A>T (p.Pro235=)
c.247A>T
c.2748A>T (p.Pro916=)
c.2730A>T (p.Pro910=)
c.2568A>T (p.Pro856=)
c.2676A>T (p.Pro892=)
c.2658A>T (p.Pro886=)
c.2382A>T (p.Pro794=)
n.2957A>T
c.2550A>T (p.Pro850=)
c.2364A>T (p.Pro788=)
n.2960A>T
c.2655A>T (p.Pro885=)
c.2721A>T (p.Pro907=)
c.2673A>T (p.Pro891=)
c.2538A>T (p.Pro846=)
16g.28835591C>ACA395408095ATXN2Lc.2728C>A (p.Gln910Lys)
c.703C>A (p.Gln235Lys)
n.3102C>A
c.2746C>A (p.Gln916Lys)
c.1792C>A (n.1792C>A)
c.706C>A (p.Gln236Lys)
c.248C>A
c.2749C>A (p.Gln917Lys)
c.2731C>A (p.Gln911Lys)
c.2569C>A (p.Gln857Lys)
c.2677C>A (p.Gln893Lys)
c.2659C>A (p.Gln887Lys)
c.2383C>A (p.Gln795Lys)
n.2958C>A
c.2551C>A (p.Gln851Lys)
c.2365C>A (p.Gln789Lys)
n.2961C>A
c.2656C>A (p.Gln886Lys)
c.2722C>A (p.Gln908Lys)
c.2674C>A (p.Gln892Lys)
c.2539C>A (p.Gln847Lys)
16g.28835591C>GCA395408093ATXN2Lc.2728C>G (p.Gln910Glu)
c.703C>G (p.Gln235Glu)
n.3102C>G
c.2746C>G (p.Gln916Glu)
c.1792C>G (n.1792C>G)
c.706C>G (p.Gln236Glu)
c.248C>G
c.2749C>G (p.Gln917Glu)
c.2731C>G (p.Gln911Glu)
c.2569C>G (p.Gln857Glu)
c.2677C>G (p.Gln893Glu)
c.2659C>G (p.Gln887Glu)
c.2383C>G (p.Gln795Glu)
n.2958C>G
c.2551C>G (p.Gln851Glu)
c.2365C>G (p.Gln789Glu)
n.2961C>G
c.2656C>G (p.Gln886Glu)
c.2722C>G (p.Gln908Glu)
c.2674C>G (p.Gln892Glu)
c.2539C>G (p.Gln847Glu)
16g.28835591C>TCA395408097ATXN2Lc.2728C>T (p.Gln910Ter)
c.703C>T (p.Gln235Ter)
n.3102C>T
c.2746C>T (p.Gln916Ter)
c.1792C>T (n.1792C>T)
c.706C>T (p.Gln236Ter)
c.248C>T
c.2749C>T (p.Gln917Ter)
c.2731C>T (p.Gln911Ter)
c.2569C>T (p.Gln857Ter)
c.2677C>T (p.Gln893Ter)
c.2659C>T (p.Gln887Ter)
c.2383C>T (p.Gln795Ter)
n.2958C>T
c.2551C>T (p.Gln851Ter)
c.2365C>T (p.Gln789Ter)
n.2961C>T
c.2656C>T (p.Gln886Ter)
c.2722C>T (p.Gln908Ter)
c.2674C>T (p.Gln892Ter)
c.2539C>T (p.Gln847Ter)
16g.28835592A>CCA395408099ATXN2Lc.2729A>C (p.Gln910Pro)
c.704A>C (p.Gln235Pro)
n.3103A>C
c.2747A>C (p.Gln916Pro)
c.1793A>C (n.1793A>C)
c.707A>C (p.Gln236Pro)
c.249A>C
c.2750A>C (p.Gln917Pro)
c.2732A>C (p.Gln911Pro)
c.2570A>C (p.Gln857Pro)
c.2678A>C (p.Gln893Pro)
c.2660A>C (p.Gln887Pro)
c.2384A>C (p.Gln795Pro)
n.2959A>C
c.2552A>C (p.Gln851Pro)
c.2366A>C (p.Gln789Pro)
n.2962A>C
c.2657A>C (p.Gln886Pro)
c.2723A>C (p.Gln908Pro)
c.2675A>C (p.Gln892Pro)
c.2540A>C (p.Gln847Pro)
16g.28835592A>GCA395408101ATXN2Lc.2729A>G (p.Gln910Arg)
c.704A>G (p.Gln235Arg)
n.3103A>G
c.2747A>G (p.Gln916Arg)
c.1793A>G (n.1793A>G)
c.707A>G (p.Gln236Arg)
c.249A>G
c.2750A>G (p.Gln917Arg)
c.2732A>G (p.Gln911Arg)
c.2570A>G (p.Gln857Arg)
c.2678A>G (p.Gln893Arg)
c.2660A>G (p.Gln887Arg)
c.2384A>G (p.Gln795Arg)
n.2959A>G
c.2552A>G (p.Gln851Arg)
c.2366A>G (p.Gln789Arg)
n.2962A>G
c.2657A>G (p.Gln886Arg)
c.2723A>G (p.Gln908Arg)
c.2675A>G (p.Gln892Arg)
c.2540A>G (p.Gln847Arg)
16g.28835592A>TCA395408102ATXN2Lc.2729A>T (p.Gln910Leu)
c.704A>T (p.Gln235Leu)
n.3103A>T
c.2747A>T (p.Gln916Leu)
c.1793A>T (n.1793A>T)
c.707A>T (p.Gln236Leu)
c.249A>T
c.2750A>T (p.Gln917Leu)
c.2732A>T (p.Gln911Leu)
c.2570A>T (p.Gln857Leu)
c.2678A>T (p.Gln893Leu)
c.2660A>T (p.Gln887Leu)
c.2384A>T (p.Gln795Leu)
n.2959A>T
c.2552A>T (p.Gln851Leu)
c.2366A>T (p.Gln789Leu)
n.2962A>T
c.2657A>T (p.Gln886Leu)
c.2723A>T (p.Gln908Leu)
c.2675A>T (p.Gln892Leu)
c.2540A>T (p.Gln847Leu)
16g.28835593G>ACA494868341ATXN2Lc.2730G>A (p.Gln910=)
c.705G>A (p.Gln235=)
n.3104G>A
c.2748G>A (p.Gln916=)
c.1794G>A (n.1794G>A)
c.708G>A (p.Gln236=)
c.250G>A
c.2751G>A (p.Gln917=)
c.2733G>A (p.Gln911=)
c.2571G>A (p.Gln857=)
c.2679G>A (p.Gln893=)
c.2661G>A (p.Gln887=)
c.2385G>A (p.Gln795=)
n.2960G>A
c.2553G>A (p.Gln851=)
c.2367G>A (p.Gln789=)
n.2963G>A
c.2658G>A (p.Gln886=)
c.2724G>A (p.Gln908=)
c.2676G>A (p.Gln892=)
c.2541G>A (p.Gln847=)
16g.28835593G>CCA395408104ATXN2Lc.2730G>C (p.Gln910His)
c.705G>C (p.Gln235His)
n.3104G>C
c.2748G>C (p.Gln916His)
c.1794G>C (n.1794G>C)
c.708G>C (p.Gln236His)
c.250G>C
c.2751G>C (p.Gln917His)
c.2733G>C (p.Gln911His)
c.2571G>C (p.Gln857His)
c.2679G>C (p.Gln893His)
c.2661G>C (p.Gln887His)
c.2385G>C (p.Gln795His)
n.2960G>C
c.2553G>C (p.Gln851His)
c.2367G>C (p.Gln789His)
n.2963G>C
c.2658G>C (p.Gln886His)
c.2724G>C (p.Gln908His)
c.2676G>C (p.Gln892His)
c.2541G>C (p.Gln847His)
16g.28835593G>TCA395408106ATXN2Lc.2730G>T (p.Gln910His)
c.705G>T (p.Gln235His)
n.3104G>T
c.2748G>T (p.Gln916His)
c.1794G>T (n.1794G>T)
c.708G>T (p.Gln236His)
c.250G>T
c.2751G>T (p.Gln917His)
c.2733G>T (p.Gln911His)
c.2571G>T (p.Gln857His)
c.2679G>T (p.Gln893His)
c.2661G>T (p.Gln887His)
c.2385G>T (p.Gln795His)
n.2960G>T
c.2553G>T (p.Gln851His)
c.2367G>T (p.Gln789His)
n.2963G>T
c.2658G>T (p.Gln886His)
c.2724G>T (p.Gln908His)
c.2676G>T (p.Gln892His)
c.2541G>T (p.Gln847His)
16g.28835594C>ACA395408109ATXN2Lc.2731C>A (p.Gln911Lys)
c.706C>A (p.Gln236Lys)
n.3105C>A
c.2749C>A (p.Gln917Lys)
c.1795C>A (n.1795C>A)
c.709C>A (p.Gln237Lys)
c.251C>A
c.2752C>A (p.Gln918Lys)
c.2734C>A (p.Gln912Lys)
c.2572C>A (p.Gln858Lys)
c.2680C>A (p.Gln894Lys)
c.2662C>A (p.Gln888Lys)
c.2386C>A (p.Gln796Lys)
n.2961C>A
c.2554C>A (p.Gln852Lys)
c.2368C>A (p.Gln790Lys)
n.2964C>A
c.2659C>A (p.Gln887Lys)
c.2725C>A (p.Gln909Lys)
c.2677C>A (p.Gln893Lys)
c.2542C>A (p.Gln848Lys)
16g.28835594C>GCA395408110ATXN2Lc.2731C>G (p.Gln911Glu)
c.706C>G (p.Gln236Glu)
n.3105C>G
c.2749C>G (p.Gln917Glu)
c.1795C>G (n.1795C>G)
c.709C>G (p.Gln237Glu)
c.251C>G
c.2752C>G (p.Gln918Glu)
c.2734C>G (p.Gln912Glu)
c.2572C>G (p.Gln858Glu)
c.2680C>G (p.Gln894Glu)
c.2662C>G (p.Gln888Glu)
c.2386C>G (p.Gln796Glu)
n.2961C>G
c.2554C>G (p.Gln852Glu)
c.2368C>G (p.Gln790Glu)
n.2964C>G
c.2659C>G (p.Gln887Glu)
c.2725C>G (p.Gln909Glu)
c.2677C>G (p.Gln893Glu)
c.2542C>G (p.Gln848Glu)
16g.28835594C>TCA395408111ATXN2Lc.2731C>T (p.Gln911Ter)
c.706C>T (p.Gln236Ter)
n.3105C>T
c.2749C>T (p.Gln917Ter)
c.1795C>T (n.1795C>T)
c.709C>T (p.Gln237Ter)
c.251C>T
c.2752C>T (p.Gln918Ter)
c.2734C>T (p.Gln912Ter)
c.2572C>T (p.Gln858Ter)
c.2680C>T (p.Gln894Ter)
c.2662C>T (p.Gln888Ter)
c.2386C>T (p.Gln796Ter)
n.2961C>T
c.2554C>T (p.Gln852Ter)
c.2368C>T (p.Gln790Ter)
n.2964C>T
c.2659C>T (p.Gln887Ter)
c.2725C>T (p.Gln909Ter)
c.2677C>T (p.Gln893Ter)
c.2542C>T (p.Gln848Ter)
16g.28835595A>CCA395408114ATXN2Lc.2732A>C (p.Gln911Pro)
c.707A>C (p.Gln236Pro)
n.3106A>C
c.2750A>C (p.Gln917Pro)
c.1796A>C (n.1796A>C)
c.1A>C
c.710A>C (p.Gln237Pro)
c.252A>C
c.2753A>C (p.Gln918Pro)
c.2735A>C (p.Gln912Pro)
c.2573A>C (p.Gln858Pro)
c.2681A>C (p.Gln894Pro)
c.2663A>C (p.Gln888Pro)
c.2387A>C (p.Gln796Pro)
n.2962A>C
c.2555A>C (p.Gln852Pro)
c.2369A>C (p.Gln790Pro)
n.2965A>C
c.2660A>C (p.Gln887Pro)
c.2726A>C (p.Gln909Pro)
c.2678A>C (p.Gln893Pro)
c.2543A>C (p.Gln848Pro)
16g.28835595A>GCA395408115ATXN2Lc.2732A>G (p.Gln911Arg)
c.707A>G (p.Gln236Arg)
n.3106A>G
c.2750A>G (p.Gln917Arg)
c.1796A>G (n.1796A>G)
c.1A>G
c.710A>G (p.Gln237Arg)
c.252A>G
c.2753A>G (p.Gln918Arg)
c.2735A>G (p.Gln912Arg)
c.2573A>G (p.Gln858Arg)
c.2681A>G (p.Gln894Arg)
c.2663A>G (p.Gln888Arg)
c.2387A>G (p.Gln796Arg)
n.2962A>G
c.2555A>G (p.Gln852Arg)
c.2369A>G (p.Gln790Arg)
n.2965A>G
c.2660A>G (p.Gln887Arg)
c.2726A>G (p.Gln909Arg)
c.2678A>G (p.Gln893Arg)
c.2543A>G (p.Gln848Arg)
16g.28835595A>TCA395408117ATXN2Lc.2732A>T (p.Gln911Leu)
c.707A>T (p.Gln236Leu)
n.3106A>T
c.2750A>T (p.Gln917Leu)
c.1796A>T (n.1796A>T)
c.1A>T
c.710A>T (p.Gln237Leu)
c.252A>T
c.2753A>T (p.Gln918Leu)
c.2735A>T (p.Gln912Leu)
c.2573A>T (p.Gln858Leu)
c.2681A>T (p.Gln894Leu)
c.2663A>T (p.Gln888Leu)
c.2387A>T (p.Gln796Leu)
n.2962A>T
c.2555A>T (p.Gln852Leu)
c.2369A>T (p.Gln790Leu)
n.2965A>T
c.2660A>T (p.Gln887Leu)
c.2726A>T (p.Gln909Leu)
c.2678A>T (p.Gln893Leu)
c.2543A>T (p.Gln848Leu)
16g.28835596G>ACA494868371ATXN2Lc.2733G>A (p.Gln911=)
c.708G>A (p.Gln236=)
n.3107G>A
c.2751G>A (p.Gln917=)
c.1797G>A (n.1797G>A)
c.2G>A
c.711G>A (p.Gln237=)
c.253G>A
c.2754G>A (p.Gln918=)
c.2736G>A (p.Gln912=)
c.2574G>A (p.Gln858=)
c.2682G>A (p.Gln894=)
c.2664G>A (p.Gln888=)
c.2388G>A (p.Gln796=)
n.2963G>A
c.2556G>A (p.Gln852=)
c.2370G>A (p.Gln790=)
n.2966G>A
c.2661G>A (p.Gln887=)
c.2727G>A (p.Gln909=)
c.2679G>A (p.Gln893=)
c.2544G>A (p.Gln848=)
16g.28835596G>CCA395408119ATXN2Lc.2733G>C (p.Gln911His)
c.708G>C (p.Gln236His)
n.3107G>C
c.2751G>C (p.Gln917His)
c.1797G>C (n.1797G>C)
c.2G>C
c.711G>C (p.Gln237His)
c.253G>C
c.2754G>C (p.Gln918His)
c.2736G>C (p.Gln912His)
c.2574G>C (p.Gln858His)
c.2682G>C (p.Gln894His)
c.2664G>C (p.Gln888His)
c.2388G>C (p.Gln796His)
n.2963G>C
c.2556G>C (p.Gln852His)
c.2370G>C (p.Gln790His)
n.2966G>C
c.2661G>C (p.Gln887His)
c.2727G>C (p.Gln909His)
c.2679G>C (p.Gln893His)
c.2544G>C (p.Gln848His)
16g.28835596G>TCA395408120ATXN2Lc.2733G>T (p.Gln911His)
c.708G>T (p.Gln236His)
n.3107G>T
c.2751G>T (p.Gln917His)
c.1797G>T (n.1797G>T)
c.2G>T
c.711G>T (p.Gln237His)
c.253G>T
c.2754G>T (p.Gln918His)
c.2736G>T (p.Gln912His)
c.2574G>T (p.Gln858His)
c.2682G>T (p.Gln894His)
c.2664G>T (p.Gln888His)
c.2388G>T (p.Gln796His)
n.2963G>T
c.2556G>T (p.Gln852His)
c.2370G>T (p.Gln790His)
n.2966G>T
c.2661G>T (p.Gln887His)
c.2727G>T (p.Gln909His)
c.2679G>T (p.Gln893His)
c.2544G>T (p.Gln848His)
16g.28835597A=CA2215806302ATXN2Lc.2734A= (p.Asn912=)
c.709A= (p.Asn237=)
n.3108A=
c.2752A= (p.Asn918=)
c.1798A= (n.1798A=)
c.3A=
c.712A= (p.Asn238=)
c.254A=
c.2755A= (p.Asn919=)
c.2737A= (p.Asn913=)
c.2575A= (p.Asn859=)
c.2683A= (p.Asn895=)
c.2665A= (p.Asn889=)
c.2389A= (p.Asn797=)
n.2964A=
c.2557A= (p.Asn853=)
c.2371A= (p.Asn791=)
n.2967A=
c.2662A= (p.Asn888=)
c.2728A= (p.Asn910=)
c.2680A= (p.Asn894=)
c.2545A= (p.Asn849=)
16g.28835597A>CCA395408122ATXN2Lc.2734A>C (p.Asn912His)
c.709A>C (p.Asn237His)
n.3108A>C
c.2752A>C (p.Asn918His)
c.1798A>C (n.1798A>C)
c.3A>C
c.712A>C (p.Asn238His)
c.254A>C
c.2755A>C (p.Asn919His)
c.2737A>C (p.Asn913His)
c.2575A>C (p.Asn859His)
c.2683A>C (p.Asn895His)
c.2665A>C (p.Asn889His)
c.2389A>C (p.Asn797His)
n.2964A>C
c.2557A>C (p.Asn853His)
c.2371A>C (p.Asn791His)
n.2967A>C
c.2662A>C (p.Asn888His)
c.2728A>C (p.Asn910His)
c.2680A>C (p.Asn894His)
c.2545A>C (p.Asn849His)
 dbSNP gnomAD v2 gnomAD v4
16g.28835597A>GCA395408126ATXN2Lc.2734A>G (p.Asn912Asp)
c.709A>G (p.Asn237Asp)
n.3108A>G
c.2752A>G (p.Asn918Asp)
c.1798A>G (n.1798A>G)
c.3A>G
c.712A>G (p.Asn238Asp)
c.254A>G
c.2755A>G (p.Asn919Asp)
c.2737A>G (p.Asn913Asp)
c.2575A>G (p.Asn859Asp)
c.2683A>G (p.Asn895Asp)
c.2665A>G (p.Asn889Asp)
c.2389A>G (p.Asn797Asp)
n.2964A>G
c.2557A>G (p.Asn853Asp)
c.2371A>G (p.Asn791Asp)
n.2967A>G
c.2662A>G (p.Asn888Asp)
c.2728A>G (p.Asn910Asp)
c.2680A>G (p.Asn894Asp)
c.2545A>G (p.Asn849Asp)
16g.28835597A>TCA395408124ATXN2Lc.2734A>T (p.Asn912Tyr)
c.709A>T (p.Asn237Tyr)
n.3108A>T
c.2752A>T (p.Asn918Tyr)
c.1798A>T (n.1798A>T)
c.3A>T
c.712A>T (p.Asn238Tyr)
c.254A>T
c.2755A>T (p.Asn919Tyr)
c.2737A>T (p.Asn913Tyr)
c.2575A>T (p.Asn859Tyr)
c.2683A>T (p.Asn895Tyr)
c.2665A>T (p.Asn889Tyr)
c.2389A>T (p.Asn797Tyr)
n.2964A>T
c.2557A>T (p.Asn853Tyr)
c.2371A>T (p.Asn791Tyr)
n.2967A>T
c.2662A>T (p.Asn888Tyr)
c.2728A>T (p.Asn910Tyr)
c.2680A>T (p.Asn894Tyr)
c.2545A>T (p.Asn849Tyr)
16g.28835598A>CCA395408128ATXN2Lc.2735A>C (p.Asn912Thr)
c.710A>C (p.Asn237Thr)
n.3109A>C
c.2753A>C (p.Asn918Thr)
c.1799A>C (n.1799A>C)
c.4A>C
c.713A>C (p.Asn238Thr)
c.255A>C
c.2756A>C (p.Asn919Thr)
c.2738A>C (p.Asn913Thr)
c.2576A>C (p.Asn859Thr)
c.2684A>C (p.Asn895Thr)
c.2666A>C (p.Asn889Thr)
c.2390A>C (p.Asn797Thr)
n.2965A>C
c.2558A>C (p.Asn853Thr)
c.2372A>C (p.Asn791Thr)
n.2968A>C
c.2663A>C (p.Asn888Thr)
c.2729A>C (p.Asn910Thr)
c.2681A>C (p.Asn894Thr)
c.2546A>C (p.Asn849Thr)
16g.28835598A>GCA395408130ATXN2Lc.2735A>G (p.Asn912Ser)
c.710A>G (p.Asn237Ser)
n.3109A>G
c.2753A>G (p.Asn918Ser)
c.1799A>G (n.1799A>G)
c.4A>G
c.713A>G (p.Asn238Ser)
c.255A>G
c.2756A>G (p.Asn919Ser)
c.2738A>G (p.Asn913Ser)
c.2576A>G (p.Asn859Ser)
c.2684A>G (p.Asn895Ser)
c.2666A>G (p.Asn889Ser)
c.2390A>G (p.Asn797Ser)
n.2965A>G
c.2558A>G (p.Asn853Ser)
c.2372A>G (p.Asn791Ser)
n.2968A>G
c.2663A>G (p.Asn888Ser)
c.2729A>G (p.Asn910Ser)
c.2681A>G (p.Asn894Ser)
c.2546A>G (p.Asn849Ser)
 gnomAD v4
16g.28835598A>TCA395408131ATXN2Lc.2735A>T (p.Asn912Ile)
c.710A>T (p.Asn237Ile)
n.3109A>T
c.2753A>T (p.Asn918Ile)
c.1799A>T (n.1799A>T)
c.4A>T
c.713A>T (p.Asn238Ile)
c.255A>T
c.2756A>T (p.Asn919Ile)
c.2738A>T (p.Asn913Ile)
c.2576A>T (p.Asn859Ile)
c.2684A>T (p.Asn895Ile)
c.2666A>T (p.Asn889Ile)
c.2390A>T (p.Asn797Ile)
n.2965A>T
c.2558A>T (p.Asn853Ile)
c.2372A>T (p.Asn791Ile)
n.2968A>T
c.2663A>T (p.Asn888Ile)
c.2729A>T (p.Asn910Ile)
c.2681A>T (p.Asn894Ile)
c.2546A>T (p.Asn849Ile)
16g.28835599T>ACA395408132ATXN2Lc.2736T>A (p.Asn912Lys)
c.711T>A (p.Asn237Lys)
n.3110T>A
c.2754T>A (p.Asn918Lys)
c.1800T>A (n.1800T>A)
c.5T>A
c.714T>A (p.Asn238Lys)
c.256T>A
c.2757T>A (p.Asn919Lys)
c.2739T>A (p.Asn913Lys)
c.2577T>A (p.Asn859Lys)
c.2685T>A (p.Asn895Lys)
c.2667T>A (p.Asn889Lys)
c.2391T>A (p.Asn797Lys)
n.2966T>A
c.2559T>A (p.Asn853Lys)
c.2373T>A (p.Asn791Lys)
n.2969T>A
c.2664T>A (p.Asn888Lys)
c.2730T>A (p.Asn910Lys)
c.2682T>A (p.Asn894Lys)
c.2547T>A (p.Asn849Lys)
 gnomAD v4
16g.28835599T>CCA494868395ATXN2Lc.2736T>C (p.Asn912=)
c.711T>C (p.Asn237=)
n.3110T>C
c.2754T>C (p.Asn918=)
c.1800T>C (n.1800T>C)
c.5T>C
c.714T>C (p.Asn238=)
c.256T>C
c.2757T>C (p.Asn919=)
c.2739T>C (p.Asn913=)
c.2577T>C (p.Asn859=)
c.2685T>C (p.Asn895=)
c.2667T>C (p.Asn889=)
c.2391T>C (p.Asn797=)
n.2966T>C
c.2559T>C (p.Asn853=)
c.2373T>C (p.Asn791=)
n.2969T>C
c.2664T>C (p.Asn888=)
c.2730T>C (p.Asn910=)
c.2682T>C (p.Asn894=)
c.2547T>C (p.Asn849=)
16g.28835599T>GCA395408133ATXN2Lc.2736T>G (p.Asn912Lys)
c.711T>G (p.Asn237Lys)
n.3110T>G
c.2754T>G (p.Asn918Lys)
c.1800T>G (n.1800T>G)
c.5T>G
c.714T>G (p.Asn238Lys)
c.256T>G
c.2757T>G (p.Asn919Lys)
c.2739T>G (p.Asn913Lys)
c.2577T>G (p.Asn859Lys)
c.2685T>G (p.Asn895Lys)
c.2667T>G (p.Asn889Lys)
c.2391T>G (p.Asn797Lys)
n.2966T>G
c.2559T>G (p.Asn853Lys)
c.2373T>G (p.Asn791Lys)
n.2969T>G
c.2664T>G (p.Asn888Lys)
c.2730T>G (p.Asn910Lys)
c.2682T>G (p.Asn894Lys)
c.2547T>G (p.Asn849Lys)
16g.28835600C>ACA395408136ATXN2Lc.2737C>A (p.Leu913Met)
c.712C>A (p.Leu238Met)
n.3111C>A
c.2755C>A (p.Leu919Met)
c.1801C>A (n.1801C>A)
c.6C>A
c.715C>A (p.Leu239Met)
c.257C>A
c.2758C>A (p.Leu920Met)
c.2740C>A (p.Leu914Met)
c.2578C>A (p.Leu860Met)
c.2686C>A (p.Leu896Met)
c.2668C>A (p.Leu890Met)
c.2392C>A (p.Leu798Met)
n.2967C>A
c.2560C>A (p.Leu854Met)
c.2374C>A (p.Leu792Met)
n.2970C>A
c.2665C>A (p.Leu889Met)
c.2731C>A (p.Leu911Met)
c.2683C>A (p.Leu895Met)
c.2548C>A (p.Leu850Met)
16g.28835600C=CA2215806303ATXN2Lc.2737C= (p.Leu913=)
c.712C= (p.Leu238=)
n.3111C=
c.2755C= (p.Leu919=)
c.1801C= (n.1801C=)
c.6C=
c.715C= (p.Leu239=)
c.257C=
c.2758C= (p.Leu920=)
c.2740C= (p.Leu914=)
c.2578C= (p.Leu860=)
c.2686C= (p.Leu896=)
c.2668C= (p.Leu890=)
c.2392C= (p.Leu798=)
n.2967C=
c.2560C= (p.Leu854=)
c.2374C= (p.Leu792=)
n.2970C=
c.2665C= (p.Leu889=)
c.2731C= (p.Leu911=)
c.2683C= (p.Leu895=)
c.2548C= (p.Leu850=)
16g.28835600C>GCA395408137ATXN2Lc.2737C>G (p.Leu913Val)
c.712C>G (p.Leu238Val)
n.3111C>G
c.2755C>G (p.Leu919Val)
c.1801C>G (n.1801C>G)
c.6C>G
c.715C>G (p.Leu239Val)
c.257C>G
c.2758C>G (p.Leu920Val)
c.2740C>G (p.Leu914Val)
c.2578C>G (p.Leu860Val)
c.2686C>G (p.Leu896Val)
c.2668C>G (p.Leu890Val)
c.2392C>G (p.Leu798Val)
n.2967C>G
c.2560C>G (p.Leu854Val)
c.2374C>G (p.Leu792Val)
n.2970C>G
c.2665C>G (p.Leu889Val)
c.2731C>G (p.Leu911Val)
c.2683C>G (p.Leu895Val)
c.2548C>G (p.Leu850Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.28835600C>TCA494868400ATXN2Lc.2737C>T (p.Leu913=)
c.712C>T (p.Leu238=)
n.3111C>T
c.2755C>T (p.Leu919=)
c.1801C>T (n.1801C>T)
c.6C>T
c.715C>T (p.Leu239=)
c.257C>T
c.2758C>T (p.Leu920=)
c.2740C>T (p.Leu914=)
c.2578C>T (p.Leu860=)
c.2686C>T (p.Leu896=)
c.2668C>T (p.Leu890=)
c.2392C>T (p.Leu798=)
n.2967C>T
c.2560C>T (p.Leu854=)
c.2374C>T (p.Leu792=)
n.2970C>T
c.2665C>T (p.Leu889=)
c.2731C>T (p.Leu911=)
c.2683C>T (p.Leu895=)
c.2548C>T (p.Leu850=)
16g.28835601T>ACA395408139ATXN2Lc.2738T>A (p.Leu913Gln)
c.713T>A (p.Leu238Gln)
n.3112T>A
c.2756T>A (p.Leu919Gln)
c.1802T>A (n.1802T>A)
c.7T>A
c.716T>A (p.Leu239Gln)
c.258T>A
c.2759T>A (p.Leu920Gln)
c.2741T>A (p.Leu914Gln)
c.2579T>A (p.Leu860Gln)
c.2687T>A (p.Leu896Gln)
c.2669T>A (p.Leu890Gln)
c.2393T>A (p.Leu798Gln)
n.2968T>A
c.2561T>A (p.Leu854Gln)
c.2375T>A (p.Leu792Gln)
n.2971T>A
c.2666T>A (p.Leu889Gln)
c.2732T>A (p.Leu911Gln)
c.2684T>A (p.Leu895Gln)
c.2549T>A (p.Leu850Gln)
16g.28835601T>CCA395408141ATXN2Lc.2738T>C (p.Leu913Pro)
c.713T>C (p.Leu238Pro)
n.3112T>C
c.2756T>C (p.Leu919Pro)
c.1802T>C (n.1802T>C)
c.7T>C
c.716T>C (p.Leu239Pro)
c.258T>C
c.2759T>C (p.Leu920Pro)
c.2741T>C (p.Leu914Pro)
c.2579T>C (p.Leu860Pro)
c.2687T>C (p.Leu896Pro)
c.2669T>C (p.Leu890Pro)
c.2393T>C (p.Leu798Pro)
n.2968T>C
c.2561T>C (p.Leu854Pro)
c.2375T>C (p.Leu792Pro)
n.2971T>C
c.2666T>C (p.Leu889Pro)
c.2732T>C (p.Leu911Pro)
c.2684T>C (p.Leu895Pro)
c.2549T>C (p.Leu850Pro)
16g.28835601T>GCA395408143ATXN2Lc.2738T>G (p.Leu913Arg)
c.713T>G (p.Leu238Arg)
n.3112T>G
c.2756T>G (p.Leu919Arg)
c.1802T>G (n.1802T>G)
c.7T>G
c.716T>G (p.Leu239Arg)
c.258T>G
c.2759T>G (p.Leu920Arg)
c.2741T>G (p.Leu914Arg)
c.2579T>G (p.Leu860Arg)
c.2687T>G (p.Leu896Arg)
c.2669T>G (p.Leu890Arg)
c.2393T>G (p.Leu798Arg)
n.2968T>G
c.2561T>G (p.Leu854Arg)
c.2375T>G (p.Leu792Arg)
n.2971T>G
c.2666T>G (p.Leu889Arg)
c.2732T>G (p.Leu911Arg)
c.2684T>G (p.Leu895Arg)
c.2549T>G (p.Leu850Arg)
16g.28835602G>ACA494868407ATXN2Lc.2739G>A (p.Leu913=)
c.714G>A (p.Leu238=)
n.3113G>A
c.2757G>A (p.Leu919=)
c.1803G>A (n.1803G>A)
c.8G>A
c.717G>A (p.Leu239=)
c.259G>A
c.2760G>A (p.Leu920=)
c.2742G>A (p.Leu914=)
c.2580G>A (p.Leu860=)
c.2688G>A (p.Leu896=)
c.2670G>A (p.Leu890=)
c.2394G>A (p.Leu798=)
n.2969G>A
c.2562G>A (p.Leu854=)
c.2376G>A (p.Leu792=)
n.2972G>A
c.2667G>A (p.Leu889=)
c.2733G>A (p.Leu911=)
c.2685G>A (p.Leu895=)
c.2550G>A (p.Leu850=)
16g.28835602G>CCA494868408ATXN2Lc.2739G>C (p.Leu913=)
c.714G>C (p.Leu238=)
n.3113G>C
c.2757G>C (p.Leu919=)
c.1803G>C (n.1803G>C)
c.8G>C
c.717G>C (p.Leu239=)
c.259G>C
c.2760G>C (p.Leu920=)
c.2742G>C (p.Leu914=)
c.2580G>C (p.Leu860=)
c.2688G>C (p.Leu896=)
c.2670G>C (p.Leu890=)
c.2394G>C (p.Leu798=)
n.2969G>C
c.2562G>C (p.Leu854=)
c.2376G>C (p.Leu792=)
n.2972G>C
c.2667G>C (p.Leu889=)
c.2733G>C (p.Leu911=)
c.2685G>C (p.Leu895=)
c.2550G>C (p.Leu850=)
16g.28835602G>TCA494868409ATXN2Lc.2739G>T (p.Leu913=)
c.714G>T (p.Leu238=)
n.3113G>T
c.2757G>T (p.Leu919=)
c.1803G>T (n.1803G>T)
c.8G>T
c.717G>T (p.Leu239=)
c.259G>T
c.2760G>T (p.Leu920=)
c.2742G>T (p.Leu914=)
c.2580G>T (p.Leu860=)
c.2688G>T (p.Leu896=)
c.2670G>T (p.Leu890=)
c.2394G>T (p.Leu798=)
n.2969G>T
c.2562G>T (p.Leu854=)
c.2376G>T (p.Leu792=)
n.2972G>T
c.2667G>T (p.Leu889=)
c.2733G>T (p.Leu911=)
c.2685G>T (p.Leu895=)
c.2550G>T (p.Leu850=)
16g.28835603T>ACA395408147ATXN2Lc.2740T>A (p.Tyr914Asn)
c.715T>A (p.Tyr239Asn)
n.3114T>A
c.2758T>A (p.Tyr920Asn)
c.1804T>A (n.1804T>A)
c.9T>A
c.718T>A (p.Tyr240Asn)
c.260T>A
c.2761T>A (p.Tyr921Asn)
c.2743T>A (p.Tyr915Asn)
c.2581T>A (p.Tyr861Asn)
c.2689T>A (p.Tyr897Asn)
c.2671T>A (p.Tyr891Asn)
c.2395T>A (p.Tyr799Asn)
n.2970T>A
c.2563T>A (p.Tyr855Asn)
c.2377T>A (p.Tyr793Asn)
n.2973T>A
c.2668T>A (p.Tyr890Asn)
c.2734T>A (p.Tyr912Asn)
c.2686T>A (p.Tyr896Asn)
c.2551T>A (p.Tyr851Asn)
16g.28835603T>CCA395408148ATXN2Lc.2740T>C (p.Tyr914His)
c.715T>C (p.Tyr239His)
n.3114T>C
c.2758T>C (p.Tyr920His)
c.1804T>C (n.1804T>C)
c.9T>C
c.718T>C (p.Tyr240His)
c.260T>C
c.2761T>C (p.Tyr921His)
c.2743T>C (p.Tyr915His)
c.2581T>C (p.Tyr861His)
c.2689T>C (p.Tyr897His)
c.2671T>C (p.Tyr891His)
c.2395T>C (p.Tyr799His)
n.2970T>C
c.2563T>C (p.Tyr855His)
c.2377T>C (p.Tyr793His)
n.2973T>C
c.2668T>C (p.Tyr890His)
c.2734T>C (p.Tyr912His)
c.2686T>C (p.Tyr896His)
c.2551T>C (p.Tyr851His)
16g.28835603T>GCA395408145ATXN2Lc.2740T>G (p.Tyr914Asp)
c.715T>G (p.Tyr239Asp)
n.3114T>G
c.2758T>G (p.Tyr920Asp)
c.1804T>G (n.1804T>G)
c.9T>G
c.718T>G (p.Tyr240Asp)
c.260T>G
c.2761T>G (p.Tyr921Asp)
c.2743T>G (p.Tyr915Asp)
c.2581T>G (p.Tyr861Asp)
c.2689T>G (p.Tyr897Asp)
c.2671T>G (p.Tyr891Asp)
c.2395T>G (p.Tyr799Asp)
n.2970T>G
c.2563T>G (p.Tyr855Asp)
c.2377T>G (p.Tyr793Asp)
n.2973T>G
c.2668T>G (p.Tyr890Asp)
c.2734T>G (p.Tyr912Asp)
c.2686T>G (p.Tyr896Asp)
c.2551T>G (p.Tyr851Asp)
16g.28835604A>CCA395408150ATXN2Lc.2741A>C (p.Tyr914Ser)
c.716A>C (p.Tyr239Ser)
n.3115A>C
c.2759A>C (p.Tyr920Ser)
c.1805A>C (n.1805A>C)
c.10A>C
c.719A>C (p.Tyr240Ser)
c.261A>C
c.2762A>C (p.Tyr921Ser)
c.2744A>C (p.Tyr915Ser)
c.2582A>C (p.Tyr861Ser)
c.2690A>C (p.Tyr897Ser)
c.2672A>C (p.Tyr891Ser)
c.2396A>C (p.Tyr799Ser)
n.2971A>C
c.2564A>C (p.Tyr855Ser)
c.2378A>C (p.Tyr793Ser)
n.2974A>C
c.2669A>C (p.Tyr890Ser)
c.2735A>C (p.Tyr912Ser)
c.2687A>C (p.Tyr896Ser)
c.2552A>C (p.Tyr851Ser)
16g.28835604A>GCA395408152ATXN2Lc.2741A>G (p.Tyr914Cys)
c.716A>G (p.Tyr239Cys)
n.3115A>G
c.2759A>G (p.Tyr920Cys)
c.1805A>G (n.1805A>G)
c.10A>G
c.719A>G (p.Tyr240Cys)
c.261A>G
c.2762A>G (p.Tyr921Cys)
c.2744A>G (p.Tyr915Cys)
c.2582A>G (p.Tyr861Cys)
c.2690A>G (p.Tyr897Cys)
c.2672A>G (p.Tyr891Cys)
c.2396A>G (p.Tyr799Cys)
n.2971A>G
c.2564A>G (p.Tyr855Cys)
c.2378A>G (p.Tyr793Cys)
n.2974A>G
c.2669A>G (p.Tyr890Cys)
c.2735A>G (p.Tyr912Cys)
c.2687A>G (p.Tyr896Cys)
c.2552A>G (p.Tyr851Cys)
16g.28835604A>TCA395408154ATXN2Lc.2741A>T (p.Tyr914Phe)
c.716A>T (p.Tyr239Phe)
n.3115A>T
c.2759A>T (p.Tyr920Phe)
c.1805A>T (n.1805A>T)
c.10A>T
c.719A>T (p.Tyr240Phe)
c.261A>T
c.2762A>T (p.Tyr921Phe)
c.2744A>T (p.Tyr915Phe)
c.2582A>T (p.Tyr861Phe)
c.2690A>T (p.Tyr897Phe)
c.2672A>T (p.Tyr891Phe)
c.2396A>T (p.Tyr799Phe)
n.2971A>T
c.2564A>T (p.Tyr855Phe)
c.2378A>T (p.Tyr793Phe)
n.2974A>T
c.2669A>T (p.Tyr890Phe)
c.2735A>T (p.Tyr912Phe)
c.2687A>T (p.Tyr896Phe)
c.2552A>T (p.Tyr851Phe)
16g.28835605C>ACA395408156ATXN2Lc.2742C>A (p.Tyr914Ter)
c.717C>A (p.Tyr239Ter)
n.3116C>A
c.2760C>A (p.Tyr920Ter)
c.1806C>A (n.1806C>A)
c.11C>A
c.720C>A (p.Tyr240Ter)
c.262C>A
c.2763C>A (p.Tyr921Ter)
c.2745C>A (p.Tyr915Ter)
c.2583C>A (p.Tyr861Ter)
c.2691C>A (p.Tyr897Ter)
c.2673C>A (p.Tyr891Ter)
c.2397C>A (p.Tyr799Ter)
n.2972C>A
c.2565C>A (p.Tyr855Ter)
c.2379C>A (p.Tyr793Ter)
n.2975C>A
c.2670C>A (p.Tyr890Ter)
c.2736C>A (p.Tyr912Ter)
c.2688C>A (p.Tyr896Ter)
c.2553C>A (p.Tyr851Ter)
16g.28835605C>GCA395408158ATXN2Lc.2742C>G (p.Tyr914Ter)
c.717C>G (p.Tyr239Ter)
n.3116C>G
c.2760C>G (p.Tyr920Ter)
c.1806C>G (n.1806C>G)
c.11C>G
c.720C>G (p.Tyr240Ter)
c.262C>G
c.2763C>G (p.Tyr921Ter)
c.2745C>G (p.Tyr915Ter)
c.2583C>G (p.Tyr861Ter)
c.2691C>G (p.Tyr897Ter)
c.2673C>G (p.Tyr891Ter)
c.2397C>G (p.Tyr799Ter)
n.2972C>G
c.2565C>G (p.Tyr855Ter)
c.2379C>G (p.Tyr793Ter)
n.2975C>G
c.2670C>G (p.Tyr890Ter)
c.2736C>G (p.Tyr912Ter)
c.2688C>G (p.Tyr896Ter)
c.2553C>G (p.Tyr851Ter)
16g.28835605C>TCA494868415ATXN2Lc.2742C>T (p.Tyr914=)
c.717C>T (p.Tyr239=)
n.3116C>T
c.2760C>T (p.Tyr920=)
c.1806C>T (n.1806C>T)
c.11C>T
c.720C>T (p.Tyr240=)
c.262C>T
c.2763C>T (p.Tyr921=)
c.2745C>T (p.Tyr915=)
c.2583C>T (p.Tyr861=)
c.2691C>T (p.Tyr897=)
c.2673C>T (p.Tyr891=)
c.2397C>T (p.Tyr799=)
n.2972C>T
c.2565C>T (p.Tyr855=)
c.2379C>T (p.Tyr793=)
n.2975C>T
c.2670C>T (p.Tyr890=)
c.2736C>T (p.Tyr912=)
c.2688C>T (p.Tyr896=)
c.2553C>T (p.Tyr851=)
 gnomAD v4
16g.28835606C>ACA395408159ATXN2Lc.2743C>A (p.His915Asn)
c.718C>A (p.His240Asn)
n.3117C>A
c.2761C>A (p.His921Asn)
c.1807C>A (n.1807C>A)
c.12C>A
c.721C>A (p.His241Asn)
c.263C>A
c.2764C>A (p.His922Asn)
c.2746C>A (p.His916Asn)
c.2584C>A (p.His862Asn)
c.2692C>A (p.His898Asn)
c.2674C>A (p.His892Asn)
c.2398C>A (p.His800Asn)
n.2973C>A
c.2566C>A (p.His856Asn)
c.2380C>A (p.His794Asn)
n.2976C>A
c.2671C>A (p.His891Asn)
c.2737C>A (p.His913Asn)
c.2689C>A (p.His897Asn)
c.2554C>A (p.His852Asn)
16g.28835606C>GCA395408161ATXN2Lc.2743C>G (p.His915Asp)
c.718C>G (p.His240Asp)
n.3117C>G
c.2761C>G (p.His921Asp)
c.1807C>G (n.1807C>G)
c.12C>G
c.721C>G (p.His241Asp)
c.263C>G
c.2764C>G (p.His922Asp)
c.2746C>G (p.His916Asp)
c.2584C>G (p.His862Asp)
c.2692C>G (p.His898Asp)
c.2674C>G (p.His892Asp)
c.2398C>G (p.His800Asp)
n.2973C>G
c.2566C>G (p.His856Asp)
c.2380C>G (p.His794Asp)
n.2976C>G
c.2671C>G (p.His891Asp)
c.2737C>G (p.His913Asp)
c.2689C>G (p.His897Asp)
c.2554C>G (p.His852Asp)
16g.28835606C>TCA395408162ATXN2Lc.2743C>T (p.His915Tyr)
c.718C>T (p.His240Tyr)
n.3117C>T
c.2761C>T (p.His921Tyr)
c.1807C>T (n.1807C>T)
c.12C>T
c.721C>T (p.His241Tyr)
c.263C>T
c.2764C>T (p.His922Tyr)
c.2746C>T (p.His916Tyr)
c.2584C>T (p.His862Tyr)
c.2692C>T (p.His898Tyr)
c.2674C>T (p.His892Tyr)
c.2398C>T (p.His800Tyr)
n.2973C>T
c.2566C>T (p.His856Tyr)
c.2380C>T (p.His794Tyr)
n.2976C>T
c.2671C>T (p.His891Tyr)
c.2737C>T (p.His913Tyr)
c.2689C>T (p.His897Tyr)
c.2554C>T (p.His852Tyr)
 gnomAD v4
16g.28835607A>CCA395408164ATXN2Lc.2744A>C (p.His915Pro)
c.719A>C (p.His240Pro)
n.3118A>C
c.2762A>C (p.His921Pro)
c.1808A>C (n.1808A>C)
c.13A>C
c.722A>C (p.His241Pro)
c.264A>C
c.2765A>C (p.His922Pro)
c.2747A>C (p.His916Pro)
c.2585A>C (p.His862Pro)
c.2693A>C (p.His898Pro)
c.2675A>C (p.His892Pro)
c.2399A>C (p.His800Pro)
n.2974A>C
c.2567A>C (p.His856Pro)
c.2381A>C (p.His794Pro)
n.2977A>C
c.2672A>C (p.His891Pro)
c.2738A>C (p.His913Pro)
c.2690A>C (p.His897Pro)
c.2555A>C (p.His852Pro)
16g.28835607A>GCA395408166ATXN2Lc.2744A>G (p.His915Arg)
c.719A>G (p.His240Arg)
n.3118A>G
c.2762A>G (p.His921Arg)
c.1808A>G (n.1808A>G)
c.13A>G
c.722A>G (p.His241Arg)
c.264A>G
c.2765A>G (p.His922Arg)
c.2747A>G (p.His916Arg)
c.2585A>G (p.His862Arg)
c.2693A>G (p.His898Arg)
c.2675A>G (p.His892Arg)
c.2399A>G (p.His800Arg)
n.2974A>G
c.2567A>G (p.His856Arg)
c.2381A>G (p.His794Arg)
n.2977A>G
c.2672A>G (p.His891Arg)
c.2738A>G (p.His913Arg)
c.2690A>G (p.His897Arg)
c.2555A>G (p.His852Arg)
16g.28835607A>TCA395408167ATXN2Lc.2744A>T (p.His915Leu)
c.719A>T (p.His240Leu)
n.3118A>T
c.2762A>T (p.His921Leu)
c.1808A>T (n.1808A>T)
c.13A>T
c.722A>T (p.His241Leu)
c.264A>T
c.2765A>T (p.His922Leu)
c.2747A>T (p.His916Leu)
c.2585A>T (p.His862Leu)
c.2693A>T (p.His898Leu)
c.2675A>T (p.His892Leu)
c.2399A>T (p.His800Leu)
n.2974A>T
c.2567A>T (p.His856Leu)
c.2381A>T (p.His794Leu)
n.2977A>T
c.2672A>T (p.His891Leu)
c.2738A>T (p.His913Leu)
c.2690A>T (p.His897Leu)
c.2555A>T (p.His852Leu)
16g.28835608C>ACA395408169ATXN2Lc.2745C>A (p.His915Gln)
c.720C>A (p.His240Gln)
n.3119C>A
c.2763C>A (p.His921Gln)
c.1809C>A (n.1809C>A)
c.14C>A
c.723C>A (p.His241Gln)
c.265C>A
c.2766C>A (p.His922Gln)
c.2748C>A (p.His916Gln)
c.2586C>A (p.His862Gln)
c.2694C>A (p.His898Gln)
c.2676C>A (p.His892Gln)
c.2400C>A (p.His800Gln)
n.2975C>A
c.2568C>A (p.His856Gln)
c.2382C>A (p.His794Gln)
n.2978C>A
c.2673C>A (p.His891Gln)
c.2739C>A (p.His913Gln)
c.2691C>A (p.His897Gln)
c.2556C>A (p.His852Gln)
16g.28835608C>GCA395408171ATXN2Lc.2745C>G (p.His915Gln)
c.720C>G (p.His240Gln)
n.3119C>G
c.2763C>G (p.His921Gln)
c.1809C>G (n.1809C>G)
c.14C>G
c.723C>G (p.His241Gln)
c.265C>G
c.2766C>G (p.His922Gln)
c.2748C>G (p.His916Gln)
c.2586C>G (p.His862Gln)
c.2694C>G (p.His898Gln)
c.2676C>G (p.His892Gln)
c.2400C>G (p.His800Gln)
n.2975C>G
c.2568C>G (p.His856Gln)
c.2382C>G (p.His794Gln)
n.2978C>G
c.2673C>G (p.His891Gln)
c.2739C>G (p.His913Gln)
c.2691C>G (p.His897Gln)
c.2556C>G (p.His852Gln)
16g.28835608C>TCA494868471ATXN2Lc.2745C>T (p.His915=)
c.720C>T (p.His240=)
n.3119C>T
c.2763C>T (p.His921=)
c.1809C>T (n.1809C>T)
c.14C>T
c.723C>T (p.His241=)
c.265C>T
c.2766C>T (p.His922=)
c.2748C>T (p.His916=)
c.2586C>T (p.His862=)
c.2694C>T (p.His898=)
c.2676C>T (p.His892=)
c.2400C>T (p.His800=)
n.2975C>T
c.2568C>T (p.His856=)
c.2382C>T (p.His794=)
n.2978C>T
c.2673C>T (p.His891=)
c.2739C>T (p.His913=)
c.2691C>T (p.His897=)
c.2556C>T (p.His852=)
 gnomAD v4
16g.28835609C>ACA395408176ATXN2Lc.2746C>A (p.Pro916Thr)
c.721C>A (p.Pro241Thr)
n.3120C>A
c.2764C>A (p.Pro922Thr)
c.1810C>A (n.1810C>A)
c.15C>A
c.724C>A (p.Pro242Thr)
c.266C>A
c.2767C>A (p.Pro923Thr)
c.2749C>A (p.Pro917Thr)
c.2587C>A (p.Pro863Thr)
c.2695C>A (p.Pro899Thr)
c.2677C>A (p.Pro893Thr)
c.2401C>A (p.Pro801Thr)
n.2976C>A
c.2569C>A (p.Pro857Thr)
c.2383C>A (p.Pro795Thr)
n.2979C>A
c.2674C>A (p.Pro892Thr)
c.2740C>A (p.Pro914Thr)
c.2692C>A (p.Pro898Thr)
c.2557C>A (p.Pro853Thr)
16g.28835609C=CA2215806305ATXN2Lc.2746C= (p.Pro916=)
c.721C= (p.Pro241=)
n.3120C=
c.2764C= (p.Pro922=)
c.1810C= (n.1810C=)
c.15C=
c.724C= (p.Pro242=)
c.266C=
c.2767C= (p.Pro923=)
c.2749C= (p.Pro917=)
c.2587C= (p.Pro863=)
c.2695C= (p.Pro899=)
c.2677C= (p.Pro893=)
c.2401C= (p.Pro801=)
n.2976C=
c.2569C= (p.Pro857=)
c.2383C= (p.Pro795=)
n.2979C=
c.2674C= (p.Pro892=)
c.2740C= (p.Pro914=)
c.2692C= (p.Pro898=)
c.2557C= (p.Pro853=)
16g.28835609C>GCA395408174ATXN2Lc.2746C>G (p.Pro916Ala)
c.721C>G (p.Pro241Ala)
n.3120C>G
c.2764C>G (p.Pro922Ala)
c.1810C>G (n.1810C>G)
c.15C>G
c.724C>G (p.Pro242Ala)
c.266C>G
c.2767C>G (p.Pro923Ala)
c.2749C>G (p.Pro917Ala)
c.2587C>G (p.Pro863Ala)
c.2695C>G (p.Pro899Ala)
c.2677C>G (p.Pro893Ala)
c.2401C>G (p.Pro801Ala)
n.2976C>G
c.2569C>G (p.Pro857Ala)
c.2383C>G (p.Pro795Ala)
n.2979C>G
c.2674C>G (p.Pro892Ala)
c.2740C>G (p.Pro914Ala)
c.2692C>G (p.Pro898Ala)
c.2557C>G (p.Pro853Ala)
 gnomAD v4
16g.28835609C>TCA7985083ATXN2Lc.2746C>T (p.Pro916Ser)
c.721C>T (p.Pro241Ser)
n.3120C>T
c.2764C>T (p.Pro922Ser)
c.1810C>T (n.1810C>T)
c.15C>T
c.724C>T (p.Pro242Ser)
c.266C>T
c.2767C>T (p.Pro923Ser)
c.2749C>T (p.Pro917Ser)
c.2587C>T (p.Pro863Ser)
c.2695C>T (p.Pro899Ser)
c.2677C>T (p.Pro893Ser)
c.2401C>T (p.Pro801Ser)
n.2976C>T
c.2569C>T (p.Pro857Ser)
c.2383C>T (p.Pro795Ser)
n.2979C>T
c.2674C>T (p.Pro892Ser)
c.2740C>T (p.Pro914Ser)
c.2692C>T (p.Pro898Ser)
c.2557C>T (p.Pro853Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835610C>ACA395408177ATXN2Lc.2747C>A (p.Pro916Gln)
c.722C>A (p.Pro241Gln)
n.3121C>A
c.2765C>A (p.Pro922Gln)
c.1811C>A (n.1811C>A)
c.16C>A
c.725C>A (p.Pro242Gln)
c.267C>A
c.2768C>A (p.Pro923Gln)
c.2750C>A (p.Pro917Gln)
c.2588C>A (p.Pro863Gln)
c.2696C>A (p.Pro899Gln)
c.2678C>A (p.Pro893Gln)
c.2402C>A (p.Pro801Gln)
n.2977C>A
c.2570C>A (p.Pro857Gln)
c.2384C>A (p.Pro795Gln)
n.2980C>A
c.2675C>A (p.Pro892Gln)
c.2741C>A (p.Pro914Gln)
c.2693C>A (p.Pro898Gln)
c.2558C>A (p.Pro853Gln)
16g.28835610C>GCA395408179ATXN2Lc.2747C>G (p.Pro916Arg)
c.722C>G (p.Pro241Arg)
n.3121C>G
c.2765C>G (p.Pro922Arg)
c.1811C>G (n.1811C>G)
c.16C>G
c.725C>G (p.Pro242Arg)
c.267C>G
c.2768C>G (p.Pro923Arg)
c.2750C>G (p.Pro917Arg)
c.2588C>G (p.Pro863Arg)
c.2696C>G (p.Pro899Arg)
c.2678C>G (p.Pro893Arg)
c.2402C>G (p.Pro801Arg)
n.2977C>G
c.2570C>G (p.Pro857Arg)
c.2384C>G (p.Pro795Arg)
n.2980C>G
c.2675C>G (p.Pro892Arg)
c.2741C>G (p.Pro914Arg)
c.2693C>G (p.Pro898Arg)
c.2558C>G (p.Pro853Arg)
16g.28835610C>TCA395408181ATXN2Lc.2747C>T (p.Pro916Leu)
c.722C>T (p.Pro241Leu)
n.3121C>T
c.2765C>T (p.Pro922Leu)
c.1811C>T (n.1811C>T)
c.16C>T
c.725C>T (p.Pro242Leu)
c.267C>T
c.2768C>T (p.Pro923Leu)
c.2750C>T (p.Pro917Leu)
c.2588C>T (p.Pro863Leu)
c.2696C>T (p.Pro899Leu)
c.2678C>T (p.Pro893Leu)
c.2402C>T (p.Pro801Leu)
n.2977C>T
c.2570C>T (p.Pro857Leu)
c.2384C>T (p.Pro795Leu)
n.2980C>T
c.2675C>T (p.Pro892Leu)
c.2741C>T (p.Pro914Leu)
c.2693C>T (p.Pro898Leu)
c.2558C>T (p.Pro853Leu)
16g.28835611A>CCA494868523ATXN2Lc.2748A>C (p.Pro916=)
c.723A>C (p.Pro241=)
n.3122A>C
c.2766A>C (p.Pro922=)
c.1812A>C (n.1812A>C)
c.17A>C
c.726A>C (p.Pro242=)
c.268A>C
c.2769A>C (p.Pro923=)
c.2751A>C (p.Pro917=)
c.2589A>C (p.Pro863=)
c.2697A>C (p.Pro899=)
c.2679A>C (p.Pro893=)
c.2403A>C (p.Pro801=)
n.2978A>C
c.2571A>C (p.Pro857=)
c.2385A>C (p.Pro795=)
n.2981A>C
c.2676A>C (p.Pro892=)
c.2742A>C (p.Pro914=)
c.2694A>C (p.Pro898=)
c.2559A>C (p.Pro853=)
16g.28835611A>GCA494868526ATXN2Lc.2748A>G (p.Pro916=)
c.723A>G (p.Pro241=)
n.3122A>G
c.2766A>G (p.Pro922=)
c.1812A>G (n.1812A>G)
c.17A>G
c.726A>G (p.Pro242=)
c.268A>G
c.2769A>G (p.Pro923=)
c.2751A>G (p.Pro917=)
c.2589A>G (p.Pro863=)
c.2697A>G (p.Pro899=)
c.2679A>G (p.Pro893=)
c.2403A>G (p.Pro801=)
n.2978A>G
c.2571A>G (p.Pro857=)
c.2385A>G (p.Pro795=)
n.2981A>G
c.2676A>G (p.Pro892=)
c.2742A>G (p.Pro914=)
c.2694A>G (p.Pro898=)
c.2559A>G (p.Pro853=)
16g.28835611A>TCA494868529ATXN2Lc.2748A>T (p.Pro916=)
c.723A>T (p.Pro241=)
n.3122A>T
c.2766A>T (p.Pro922=)
c.1812A>T (n.1812A>T)
c.17A>T
c.726A>T (p.Pro242=)
c.268A>T
c.2769A>T (p.Pro923=)
c.2751A>T (p.Pro917=)
c.2589A>T (p.Pro863=)
c.2697A>T (p.Pro899=)
c.2679A>T (p.Pro893=)
c.2403A>T (p.Pro801=)
n.2978A>T
c.2571A>T (p.Pro857=)
c.2385A>T (p.Pro795=)
n.2981A>T
c.2676A>T (p.Pro892=)
c.2742A>T (p.Pro914=)
c.2694A>T (p.Pro898=)
c.2559A>T (p.Pro853=)
16g.28835612G>ACA395408183ATXN2Lc.2749G>A (p.Gly917Arg)
c.724G>A (p.Gly242Arg)
n.3123G>A
c.2767G>A (p.Gly923Arg)
c.1813G>A (n.1813G>A)
c.18G>A
c.727G>A (p.Gly243Arg)
c.269G>A
c.2770G>A (p.Gly924Arg)
c.2752G>A (p.Gly918Arg)
c.2590G>A (p.Gly864Arg)
c.2698G>A (p.Gly900Arg)
c.2680G>A (p.Gly894Arg)
c.2404G>A (p.Gly802Arg)
n.2979G>A
c.2572G>A (p.Gly858Arg)
c.2386G>A (p.Gly796Arg)
n.2982G>A
c.2677G>A (p.Gly893Arg)
c.2743G>A (p.Gly915Arg)
c.2695G>A (p.Gly899Arg)
c.2560G>A (p.Gly854Arg)
16g.28835612G>CCA395408184ATXN2Lc.2749G>C (p.Gly917Arg)
c.724G>C (p.Gly242Arg)
n.3123G>C
c.2767G>C (p.Gly923Arg)
c.1813G>C (n.1813G>C)
c.18G>C
c.727G>C (p.Gly243Arg)
c.269G>C
c.2770G>C (p.Gly924Arg)
c.2752G>C (p.Gly918Arg)
c.2590G>C (p.Gly864Arg)
c.2698G>C (p.Gly900Arg)
c.2680G>C (p.Gly894Arg)
c.2404G>C (p.Gly802Arg)
n.2979G>C
c.2572G>C (p.Gly858Arg)
c.2386G>C (p.Gly796Arg)
n.2982G>C
c.2677G>C (p.Gly893Arg)
c.2743G>C (p.Gly915Arg)
c.2695G>C (p.Gly899Arg)
c.2560G>C (p.Gly854Arg)
 gnomAD v4
16g.28835612G>TCA395408186ATXN2Lc.2749G>T (p.Gly917Trp)
c.724G>T (p.Gly242Trp)
n.3123G>T
c.2767G>T (p.Gly923Trp)
c.1813G>T (n.1813G>T)
c.18G>T
c.727G>T (p.Gly243Trp)
c.269G>T
c.2770G>T (p.Gly924Trp)
c.2752G>T (p.Gly918Trp)
c.2590G>T (p.Gly864Trp)
c.2698G>T (p.Gly900Trp)
c.2680G>T (p.Gly894Trp)
c.2404G>T (p.Gly802Trp)
n.2979G>T
c.2572G>T (p.Gly858Trp)
c.2386G>T (p.Gly796Trp)
n.2982G>T
c.2677G>T (p.Gly893Trp)
c.2743G>T (p.Gly915Trp)
c.2695G>T (p.Gly899Trp)
c.2560G>T (p.Gly854Trp)
16g.28835613G>ACA395408188ATXN2Lc.2750G>A (p.Gly917Glu)
c.725G>A (p.Gly242Glu)
n.3124G>A
c.2768G>A (p.Gly923Glu)
c.1814G>A (n.1814G>A)
c.19G>A
c.728G>A (p.Gly243Glu)
c.270G>A
c.2771G>A (p.Gly924Glu)
c.2753G>A (p.Gly918Glu)
c.2591G>A (p.Gly864Glu)
c.2699G>A (p.Gly900Glu)
c.2681G>A (p.Gly894Glu)
c.2405G>A (p.Gly802Glu)
n.2980G>A
c.2573G>A (p.Gly858Glu)
c.2387G>A (p.Gly796Glu)
n.2983G>A
c.2678G>A (p.Gly893Glu)
c.2744G>A (p.Gly915Glu)
c.2696G>A (p.Gly899Glu)
c.2561G>A (p.Gly854Glu)
16g.28835613G>CCA395408189ATXN2Lc.2750G>C (p.Gly917Ala)
c.725G>C (p.Gly242Ala)
n.3124G>C
c.2768G>C (p.Gly923Ala)
c.1814G>C (n.1814G>C)
c.19G>C
c.728G>C (p.Gly243Ala)
c.270G>C
c.2771G>C (p.Gly924Ala)
c.2753G>C (p.Gly918Ala)
c.2591G>C (p.Gly864Ala)
c.2699G>C (p.Gly900Ala)
c.2681G>C (p.Gly894Ala)
c.2405G>C (p.Gly802Ala)
n.2980G>C
c.2573G>C (p.Gly858Ala)
c.2387G>C (p.Gly796Ala)
n.2983G>C
c.2678G>C (p.Gly893Ala)
c.2744G>C (p.Gly915Ala)
c.2696G>C (p.Gly899Ala)
c.2561G>C (p.Gly854Ala)
16g.28835613G=CA2215806306ATXN2Lc.2750G= (p.Gly917=)
c.725G= (p.Gly242=)
n.3124G=
c.2768G= (p.Gly923=)
c.1814G= (n.1814G=)
c.19G=
c.728G= (p.Gly243=)
c.270G=
c.2771G= (p.Gly924=)
c.2753G= (p.Gly918=)
c.2591G= (p.Gly864=)
c.2699G= (p.Gly900=)
c.2681G= (p.Gly894=)
c.2405G= (p.Gly802=)
n.2980G=
c.2573G= (p.Gly858=)
c.2387G= (p.Gly796=)
n.2983G=
c.2678G= (p.Gly893=)
c.2744G= (p.Gly915=)
c.2696G= (p.Gly899=)
c.2561G= (p.Gly854=)
16g.28835613G>TCA7985084ATXN2Lc.2750G>T (p.Gly917Val)
c.725G>T (p.Gly242Val)
n.3124G>T
c.2768G>T (p.Gly923Val)
c.1814G>T (n.1814G>T)
c.19G>T
c.728G>T (p.Gly243Val)
c.270G>T
c.2771G>T (p.Gly924Val)
c.2753G>T (p.Gly918Val)
c.2591G>T (p.Gly864Val)
c.2699G>T (p.Gly900Val)
c.2681G>T (p.Gly894Val)
c.2405G>T (p.Gly802Val)
n.2980G>T
c.2573G>T (p.Gly858Val)
c.2387G>T (p.Gly796Val)
n.2983G>T
c.2678G>T (p.Gly893Val)
c.2744G>T (p.Gly915Val)
c.2696G>T (p.Gly899Val)
c.2561G>T (p.Gly854Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835614G>ACA7985085ATXN2Lc.2751G>A (p.Gly917=)
c.726G>A (p.Gly242=)
n.3125G>A
c.2769G>A (p.Gly923=)
c.1815G>A (n.1815G>A)
c.20G>A
c.729G>A (p.Gly243=)
c.271G>A
c.2772G>A (p.Gly924=)
c.2754G>A (p.Gly918=)
c.2592G>A (p.Gly864=)
c.2700G>A (p.Gly900=)
c.2682G>A (p.Gly894=)
c.2406G>A (p.Gly802=)
n.2981G>A
c.2574G>A (p.Gly858=)
c.2388G>A (p.Gly796=)
n.2984G>A
c.2679G>A (p.Gly893=)
c.2745G>A (p.Gly915=)
c.2697G>A (p.Gly899=)
c.2562G>A (p.Gly854=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28835614G>CCA494868544ATXN2Lc.2751G>C (p.Gly917=)
c.726G>C (p.Gly242=)
n.3125G>C
c.2769G>C (p.Gly923=)
c.1815G>C (n.1815G>C)
c.20G>C
c.729G>C (p.Gly243=)
c.271G>C
c.2772G>C (p.Gly924=)
c.2754G>C (p.Gly918=)
c.2592G>C (p.Gly864=)
c.2700G>C (p.Gly900=)
c.2682G>C (p.Gly894=)
c.2406G>C (p.Gly802=)
n.2981G>C
c.2574G>C (p.Gly858=)
c.2388G>C (p.Gly796=)
n.2984G>C
c.2679G>C (p.Gly893=)
c.2745G>C (p.Gly915=)
c.2697G>C (p.Gly899=)
c.2562G>C (p.Gly854=)
16g.28835614G=CA2215806308ATXN2Lc.2751G= (p.Gly917=)
c.726G= (p.Gly242=)
n.3125G=
c.2769G= (p.Gly923=)
c.1815G= (n.1815G=)
c.20G=
c.729G= (p.Gly243=)
c.271G=
c.2772G= (p.Gly924=)
c.2754G= (p.Gly918=)
c.2592G= (p.Gly864=)
c.2700G= (p.Gly900=)
c.2682G= (p.Gly894=)
c.2406G= (p.Gly802=)
n.2981G=
c.2574G= (p.Gly858=)
c.2388G= (p.Gly796=)
n.2984G=
c.2679G= (p.Gly893=)
c.2745G= (p.Gly915=)
c.2697G= (p.Gly899=)
c.2562G= (p.Gly854=)
16g.28835614G>TCA494868547ATXN2Lc.2751G>T (p.Gly917=)
c.726G>T (p.Gly242=)
n.3125G>T
c.2769G>T (p.Gly923=)
c.1815G>T (n.1815G>T)
c.20G>T
c.729G>T (p.Gly243=)
c.271G>T
c.2772G>T (p.Gly924=)
c.2754G>T (p.Gly918=)
c.2592G>T (p.Gly864=)
c.2700G>T (p.Gly900=)
c.2682G>T (p.Gly894=)
c.2406G>T (p.Gly802=)
n.2981G>T
c.2574G>T (p.Gly858=)
c.2388G>T (p.Gly796=)
n.2984G>T
c.2679G>T (p.Gly893=)
c.2745G>T (p.Gly915=)
c.2697G>T (p.Gly899=)
c.2562G>T (p.Gly854=)
16g.28835615G>ACA395408192ATXN2Lc.2752G>A (p.Ala918Thr)
c.727G>A (p.Ala243Thr)
n.3126G>A
c.2770G>A (p.Ala924Thr)
c.1816G>A (n.1816G>A)
c.21G>A
c.730G>A (p.Ala244Thr)
c.272G>A
c.2773G>A (p.Ala925Thr)
c.2755G>A (p.Ala919Thr)
c.2593G>A (p.Ala865Thr)
c.2701G>A (p.Ala901Thr)
c.2683G>A (p.Ala895Thr)
c.2407G>A (p.Ala803Thr)
n.2982G>A
c.2575G>A (p.Ala859Thr)
c.2389G>A (p.Ala797Thr)
n.2985G>A
c.2680G>A (p.Ala894Thr)
c.2746G>A (p.Ala916Thr)
c.2698G>A (p.Ala900Thr)
c.2563G>A (p.Ala855Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28835615G>CCA395408194ATXN2Lc.2752G>C (p.Ala918Pro)
c.727G>C (p.Ala243Pro)
n.3126G>C
c.2770G>C (p.Ala924Pro)
c.1816G>C (n.1816G>C)
c.21G>C
c.730G>C (p.Ala244Pro)
c.272G>C
c.2773G>C (p.Ala925Pro)
c.2755G>C (p.Ala919Pro)
c.2593G>C (p.Ala865Pro)
c.2701G>C (p.Ala901Pro)
c.2683G>C (p.Ala895Pro)
c.2407G>C (p.Ala803Pro)
n.2982G>C
c.2575G>C (p.Ala859Pro)
c.2389G>C (p.Ala797Pro)
n.2985G>C
c.2680G>C (p.Ala894Pro)
c.2746G>C (p.Ala916Pro)
c.2698G>C (p.Ala900Pro)
c.2563G>C (p.Ala855Pro)
16g.28835615G=CA2215806310ATXN2Lc.2752G= (p.Ala918=)
c.727G= (p.Ala243=)
n.3126G=
c.2770G= (p.Ala924=)
c.1816G= (n.1816G=)
c.21G=
c.730G= (p.Ala244=)
c.272G=
c.2773G= (p.Ala925=)
c.2755G= (p.Ala919=)
c.2593G= (p.Ala865=)
c.2701G= (p.Ala901=)
c.2683G= (p.Ala895=)
c.2407G= (p.Ala803=)
n.2982G=
c.2575G= (p.Ala859=)
c.2389G= (p.Ala797=)
n.2985G=
c.2680G= (p.Ala894=)
c.2746G= (p.Ala916=)
c.2698G= (p.Ala900=)
c.2563G= (p.Ala855=)
16g.28835615G>TCA7985086ATXN2Lc.2752G>T (p.Ala918Ser)
c.727G>T (p.Ala243Ser)
n.3126G>T
c.2770G>T (p.Ala924Ser)
c.1816G>T (n.1816G>T)
c.21G>T
c.730G>T (p.Ala244Ser)
c.272G>T
c.2773G>T (p.Ala925Ser)
c.2755G>T (p.Ala919Ser)
c.2593G>T (p.Ala865Ser)
c.2701G>T (p.Ala901Ser)
c.2683G>T (p.Ala895Ser)
c.2407G>T (p.Ala803Ser)
n.2982G>T
c.2575G>T (p.Ala859Ser)
c.2389G>T (p.Ala797Ser)
n.2985G>T
c.2680G>T (p.Ala894Ser)
c.2746G>T (p.Ala916Ser)
c.2698G>T (p.Ala900Ser)
c.2563G>T (p.Ala855Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.28835616C>ACA395408201ATXN2Lc.2753C>A (p.Ala918Asp)
c.728C>A (p.Ala243Asp)
n.3127C>A
c.2771C>A (p.Ala924Asp)
c.1817C>A (n.1817C>A)
c.22C>A
c.731C>A (p.Ala244Asp)
c.273C>A
c.2774C>A (p.Ala925Asp)
c.2756C>A (p.Ala919Asp)
c.2594C>A (p.Ala865Asp)
c.2702C>A (p.Ala901Asp)
c.2684C>A (p.Ala895Asp)
c.2408C>A (p.Ala803Asp)
n.2983C>A
c.2576C>A (p.Ala859Asp)
c.2390C>A (p.Ala797Asp)
n.2986C>A
c.2681C>A (p.Ala894Asp)
c.2747C>A (p.Ala916Asp)
c.2699C>A (p.Ala900Asp)
c.2564C>A (p.Ala855Asp)
16g.28835616C>GCA395408199ATXN2Lc.2753C>G (p.Ala918Gly)
c.728C>G (p.Ala243Gly)
n.3127C>G
c.2771C>G (p.Ala924Gly)
c.1817C>G (n.1817C>G)
c.22C>G
c.731C>G (p.Ala244Gly)
c.273C>G
c.2774C>G (p.Ala925Gly)
c.2756C>G (p.Ala919Gly)
c.2594C>G (p.Ala865Gly)
c.2702C>G (p.Ala901Gly)
c.2684C>G (p.Ala895Gly)
c.2408C>G (p.Ala803Gly)
n.2983C>G
c.2576C>G (p.Ala859Gly)
c.2390C>G (p.Ala797Gly)
n.2986C>G
c.2681C>G (p.Ala894Gly)
c.2747C>G (p.Ala916Gly)
c.2699C>G (p.Ala900Gly)
c.2564C>G (p.Ala855Gly)
16g.28835616C>TCA395408197ATXN2Lc.2753C>T (p.Ala918Val)
c.728C>T (p.Ala243Val)
n.3127C>T
c.2771C>T (p.Ala924Val)
c.1817C>T (n.1817C>T)
c.22C>T
c.731C>T (p.Ala244Val)
c.273C>T
c.2774C>T (p.Ala925Val)
c.2756C>T (p.Ala919Val)
c.2594C>T (p.Ala865Val)
c.2702C>T (p.Ala901Val)
c.2684C>T (p.Ala895Val)
c.2408C>T (p.Ala803Val)
n.2983C>T
c.2576C>T (p.Ala859Val)
c.2390C>T (p.Ala797Val)
n.2986C>T
c.2681C>T (p.Ala894Val)
c.2747C>T (p.Ala916Val)
c.2699C>T (p.Ala900Val)
c.2564C>T (p.Ala855Val)
 gnomAD v4

Number of alleles fetched