Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13235599G>A | CA2576642012 | CACNA1A | c.5067+15C>T (n.5067+15C>T) c.5073+15C>T (n.5073+15C>T) c.486+15C>T n.291+15C>T c.228+15C>T (n.228+15C>T) n.272+15C>T c.5070+15C>T (n.5070+15C>T) n.1056+15C>T c.382+15C>T c.5076+15C>T (n.5076+15C>T) c.363+15C>T (n.363+15C>T) c.5085+15C>T (n.5085+15C>T) c.4929+15C>T (n.4929+15C>T) c.327+15C>T n.460+15C>T c.471+15C>T (n.471+15C>T) n.61+15C>T c.5271+15C>T (n.5271+15C>T) c.1125+15C>T (n.1125+15C>T) c.528+15C>T (n.528+15C>T) | gnomAD v4 |
19 | g.13235600G>A | CA2582819108 | CACNA1A | c.5067+14C>T (n.5067+14C>T) c.5073+14C>T (n.5073+14C>T) c.486+14C>T n.291+14C>T c.228+14C>T (n.228+14C>T) n.272+14C>T c.5070+14C>T (n.5070+14C>T) n.1056+14C>T c.382+14C>T c.5076+14C>T (n.5076+14C>T) c.363+14C>T (n.363+14C>T) c.5085+14C>T (n.5085+14C>T) c.4929+14C>T (n.4929+14C>T) c.327+14C>T n.460+14C>T c.471+14C>T (n.471+14C>T) n.61+14C>T c.5271+14C>T (n.5271+14C>T) c.1125+14C>T (n.1125+14C>T) c.528+14C>T (n.528+14C>T) | dbSNP gnomAD v4 |
19 | g.13235600G>T | CA2582819109 | CACNA1A | c.5067+14C>A (n.5067+14C>A) c.5073+14C>A (n.5073+14C>A) c.486+14C>A n.291+14C>A c.228+14C>A (n.228+14C>A) n.272+14C>A c.5070+14C>A (n.5070+14C>A) n.1056+14C>A c.382+14C>A c.5076+14C>A (n.5076+14C>A) c.363+14C>A (n.363+14C>A) c.5085+14C>A (n.5085+14C>A) c.4929+14C>A (n.4929+14C>A) c.327+14C>A n.460+14C>A c.471+14C>A (n.471+14C>A) n.61+14C>A c.5271+14C>A (n.5271+14C>A) c.1125+14C>A (n.1125+14C>A) c.528+14C>A (n.528+14C>A) | gnomAD v4 |
19 | g.13235601G>T | CA2582819110 | CACNA1A | c.5067+13C>A (n.5067+13C>A) c.5073+13C>A (n.5073+13C>A) c.486+13C>A n.291+13C>A c.228+13C>A (n.228+13C>A) n.272+13C>A c.5070+13C>A (n.5070+13C>A) n.1056+13C>A c.382+13C>A c.5076+13C>A (n.5076+13C>A) c.363+13C>A (n.363+13C>A) c.5085+13C>A (n.5085+13C>A) c.4929+13C>A (n.4929+13C>A) c.327+13C>A n.460+13C>A c.471+13C>A (n.471+13C>A) n.61+13C>A c.5271+13C>A (n.5271+13C>A) c.1125+13C>A (n.1125+13C>A) c.528+13C>A (n.528+13C>A) | gnomAD v4 |
19 | g.13235602A>T | CA2576642013 | CACNA1A | c.5067+12T>A (n.5067+12T>A) c.5073+12T>A (n.5073+12T>A) c.486+12T>A n.291+12T>A c.228+12T>A (n.228+12T>A) n.272+12T>A c.5070+12T>A (n.5070+12T>A) n.1056+12T>A c.382+12T>A c.5076+12T>A (n.5076+12T>A) c.363+12T>A (n.363+12T>A) c.5085+12T>A (n.5085+12T>A) c.4929+12T>A (n.4929+12T>A) c.327+12T>A n.460+12T>A c.471+12T>A (n.471+12T>A) n.61+12T>A c.5271+12T>A (n.5271+12T>A) c.1125+12T>A (n.1125+12T>A) c.528+12T>A (n.528+12T>A) | gnomAD v4 |
19 | g.13235603C= | CA2323795752 | CACNA1A | c.5067+11G= (n.5067+11G=) c.5073+11G= (n.5073+11G=) c.486+11G= n.291+11G= c.228+11G= (n.228+11G=) n.272+11G= c.5070+11G= (n.5070+11G=) n.1056+11G= c.382+11G= c.5076+11G= (n.5076+11G=) c.363+11G= (n.363+11G=) c.5085+11G= (n.5085+11G=) c.4929+11G= (n.4929+11G=) c.327+11G= n.460+11G= c.471+11G= (n.471+11G=) n.61+11G= c.5271+11G= (n.5271+11G=) c.1125+11G= (n.1125+11G=) c.528+11G= (n.528+11G=) | |
19 | g.13235603C>G | CA2582819111 | CACNA1A | c.5067+11G>C (n.5067+11G>C) c.5073+11G>C (n.5073+11G>C) c.486+11G>C n.291+11G>C c.228+11G>C (n.228+11G>C) n.272+11G>C c.5070+11G>C (n.5070+11G>C) n.1056+11G>C c.382+11G>C c.5076+11G>C (n.5076+11G>C) c.363+11G>C (n.363+11G>C) c.5085+11G>C (n.5085+11G>C) c.4929+11G>C (n.4929+11G>C) c.327+11G>C n.460+11G>C c.471+11G>C (n.471+11G>C) n.61+11G>C c.5271+11G>C (n.5271+11G>C) c.1125+11G>C (n.1125+11G>C) c.528+11G>C (n.528+11G>C) | gnomAD v4 |
19 | g.13235603C>T | CA9239851 | CACNA1A | c.5067+11G>A (n.5067+11G>A) c.5073+11G>A (n.5073+11G>A) c.486+11G>A n.291+11G>A c.228+11G>A (n.228+11G>A) n.272+11G>A c.5070+11G>A (n.5070+11G>A) n.1056+11G>A c.382+11G>A c.5076+11G>A (n.5076+11G>A) c.363+11G>A (n.363+11G>A) c.5085+11G>A (n.5085+11G>A) c.4929+11G>A (n.4929+11G>A) c.327+11G>A n.460+11G>A c.471+11G>A (n.471+11G>A) n.61+11G>A c.5271+11G>A (n.5271+11G>A) c.1125+11G>A (n.1125+11G>A) c.528+11G>A (n.528+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13235604G>A | CA9239852 | CACNA1A | c.5067+10C>T (n.5067+10C>T) c.5073+10C>T (n.5073+10C>T) c.486+10C>T n.291+10C>T c.228+10C>T (n.228+10C>T) n.272+10C>T c.5070+10C>T (n.5070+10C>T) n.1056+10C>T c.382+10C>T c.5076+10C>T (n.5076+10C>T) c.363+10C>T (n.363+10C>T) c.5085+10C>T (n.5085+10C>T) c.4929+10C>T (n.4929+10C>T) c.327+10C>T n.460+10C>T c.471+10C>T (n.471+10C>T) n.61+10C>T c.5271+10C>T (n.5271+10C>T) c.1125+10C>T (n.1125+10C>T) c.528+10C>T (n.528+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13235604G>C | CA915952919 | CACNA1A | c.5067+10C>G (n.5067+10C>G) c.5073+10C>G (n.5073+10C>G) c.486+10C>G n.291+10C>G c.228+10C>G (n.228+10C>G) n.272+10C>G c.5070+10C>G (n.5070+10C>G) n.1056+10C>G c.382+10C>G c.5076+10C>G (n.5076+10C>G) c.363+10C>G (n.363+10C>G) c.5085+10C>G (n.5085+10C>G) c.4929+10C>G (n.4929+10C>G) c.327+10C>G n.460+10C>G c.471+10C>G (n.471+10C>G) n.61+10C>G c.5271+10C>G (n.5271+10C>G) c.1125+10C>G (n.1125+10C>G) c.528+10C>G (n.528+10C>G) | ClinVar dbSNP gnomAD v4 |
19 | g.13235604G= | CA2323795753 | CACNA1A | c.5067+10C= (n.5067+10C=) c.5073+10C= (n.5073+10C=) c.486+10C= n.291+10C= c.228+10C= (n.228+10C=) n.272+10C= c.5070+10C= (n.5070+10C=) n.1056+10C= c.382+10C= c.5076+10C= (n.5076+10C=) c.363+10C= (n.363+10C=) c.5085+10C= (n.5085+10C=) c.4929+10C= (n.4929+10C=) c.327+10C= n.460+10C= c.471+10C= (n.471+10C=) n.61+10C= c.5271+10C= (n.5271+10C=) c.1125+10C= (n.1125+10C=) c.528+10C= (n.528+10C=) | |
19 | g.13235604G>T | CA2582819112 | CACNA1A | c.5067+10C>A (n.5067+10C>A) c.5073+10C>A (n.5073+10C>A) c.486+10C>A n.291+10C>A c.228+10C>A (n.228+10C>A) n.272+10C>A c.5070+10C>A (n.5070+10C>A) n.1056+10C>A c.382+10C>A c.5076+10C>A (n.5076+10C>A) c.363+10C>A (n.363+10C>A) c.5085+10C>A (n.5085+10C>A) c.4929+10C>A (n.4929+10C>A) c.327+10C>A n.460+10C>A c.471+10C>A (n.471+10C>A) n.61+10C>A c.5271+10C>A (n.5271+10C>A) c.1125+10C>A (n.1125+10C>A) c.528+10C>A (n.528+10C>A) | gnomAD v4 |
19 | g.13235606G>A | CA2582819113 | CACNA1A | c.5067+8C>T (n.5067+8C>T) c.5073+8C>T (n.5073+8C>T) c.486+8C>T n.291+8C>T c.228+8C>T (n.228+8C>T) n.272+8C>T c.5070+8C>T (n.5070+8C>T) n.1056+8C>T c.382+8C>T c.5076+8C>T (n.5076+8C>T) c.363+8C>T (n.363+8C>T) c.5085+8C>T (n.5085+8C>T) c.4929+8C>T (n.4929+8C>T) c.327+8C>T n.460+8C>T c.471+8C>T (n.471+8C>T) n.61+8C>T c.5271+8C>T (n.5271+8C>T) c.1125+8C>T (n.1125+8C>T) c.528+8C>T (n.528+8C>T) | gnomAD v4 |
19 | g.13235606G= | CA2323795754 | CACNA1A | c.5067+8C= (n.5067+8C=) c.5073+8C= (n.5073+8C=) c.486+8C= n.291+8C= c.228+8C= (n.228+8C=) n.272+8C= c.5070+8C= (n.5070+8C=) n.1056+8C= c.382+8C= c.5076+8C= (n.5076+8C=) c.363+8C= (n.363+8C=) c.5085+8C= (n.5085+8C=) c.4929+8C= (n.4929+8C=) c.327+8C= n.460+8C= c.471+8C= (n.471+8C=) n.61+8C= c.5271+8C= (n.5271+8C=) c.1125+8C= (n.1125+8C=) c.528+8C= (n.528+8C=) | |
19 | g.13235606G>T | CA2323795755 | CACNA1A | c.5067+8C>A (n.5067+8C>A) c.5073+8C>A (n.5073+8C>A) c.486+8C>A n.291+8C>A c.228+8C>A (n.228+8C>A) n.272+8C>A c.5070+8C>A (n.5070+8C>A) n.1056+8C>A c.382+8C>A c.5076+8C>A (n.5076+8C>A) c.363+8C>A (n.363+8C>A) c.5085+8C>A (n.5085+8C>A) c.4929+8C>A (n.4929+8C>A) c.327+8C>A n.460+8C>A c.471+8C>A (n.471+8C>A) n.61+8C>A c.5271+8C>A (n.5271+8C>A) c.1125+8C>A (n.1125+8C>A) c.528+8C>A (n.528+8C>A) | dbSNP gnomAD v4 |
19 | g.13235607G>T | CA2582819114 | CACNA1A | c.5067+7C>A (n.5067+7C>A) c.5073+7C>A (n.5073+7C>A) c.486+7C>A n.291+7C>A c.228+7C>A (n.228+7C>A) n.272+7C>A c.5070+7C>A (n.5070+7C>A) n.1056+7C>A c.382+7C>A c.5076+7C>A (n.5076+7C>A) c.363+7C>A (n.363+7C>A) c.5085+7C>A (n.5085+7C>A) c.4929+7C>A (n.4929+7C>A) c.327+7C>A n.460+7C>A c.471+7C>A (n.471+7C>A) n.61+7C>A c.5271+7C>A (n.5271+7C>A) c.1125+7C>A (n.1125+7C>A) c.528+7C>A (n.528+7C>A) | gnomAD v4 |
19 | g.13235608A>G | CA2576642014 | CACNA1A | c.5067+6T>C (n.5067+6T>C) c.5073+6T>C (n.5073+6T>C) c.486+6T>C n.291+6T>C c.228+6T>C (n.228+6T>C) n.272+6T>C c.5070+6T>C (n.5070+6T>C) n.1056+6T>C c.382+6T>C c.5076+6T>C (n.5076+6T>C) c.363+6T>C (n.363+6T>C) c.5085+6T>C (n.5085+6T>C) c.4929+6T>C (n.4929+6T>C) c.327+6T>C n.460+6T>C c.471+6T>C (n.471+6T>C) n.61+6T>C c.5271+6T>C (n.5271+6T>C) c.1125+6T>C (n.1125+6T>C) c.528+6T>C (n.528+6T>C) | |
19 | g.13235608A>T | CA2582819115 | CACNA1A | c.5067+6T>A (n.5067+6T>A) c.5073+6T>A (n.5073+6T>A) c.486+6T>A n.291+6T>A c.228+6T>A (n.228+6T>A) n.272+6T>A c.5070+6T>A (n.5070+6T>A) n.1056+6T>A c.382+6T>A c.5076+6T>A (n.5076+6T>A) c.363+6T>A (n.363+6T>A) c.5085+6T>A (n.5085+6T>A) c.4929+6T>A (n.4929+6T>A) c.327+6T>A n.460+6T>A c.471+6T>A (n.471+6T>A) n.61+6T>A c.5271+6T>A (n.5271+6T>A) c.1125+6T>A (n.1125+6T>A) c.528+6T>A (n.528+6T>A) | gnomAD v4 |
19 | g.13235610T>C | CA2582819116 | CACNA1A | c.5067+4A>G (n.5067+4A>G) c.5073+4A>G (n.5073+4A>G) c.486+4A>G n.291+4A>G c.228+4A>G (n.228+4A>G) n.272+4A>G c.5070+4A>G (n.5070+4A>G) n.1056+4A>G c.382+4A>G c.5076+4A>G (n.5076+4A>G) c.363+4A>G (n.363+4A>G) c.5085+4A>G (n.5085+4A>G) c.4929+4A>G (n.4929+4A>G) c.327+4A>G n.460+4A>G c.471+4A>G (n.471+4A>G) n.61+4A>G c.5271+4A>G (n.5271+4A>G) c.1125+4A>G (n.1125+4A>G) c.528+4A>G (n.528+4A>G) | gnomAD v4 |
19 | g.13235610T>G | CA9239853 | CACNA1A | c.5067+4A>C (n.5067+4A>C) c.5073+4A>C (n.5073+4A>C) c.486+4A>C n.291+4A>C c.228+4A>C (n.228+4A>C) n.272+4A>C c.5070+4A>C (n.5070+4A>C) n.1056+4A>C c.382+4A>C c.5076+4A>C (n.5076+4A>C) c.363+4A>C (n.363+4A>C) c.5085+4A>C (n.5085+4A>C) c.4929+4A>C (n.4929+4A>C) c.327+4A>C n.460+4A>C c.471+4A>C (n.471+4A>C) n.61+4A>C c.5271+4A>C (n.5271+4A>C) c.1125+4A>C (n.1125+4A>C) c.528+4A>C (n.528+4A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13235610T= | CA2323795756 | CACNA1A | c.5067+4A= (n.5067+4A=) c.5073+4A= (n.5073+4A=) c.486+4A= n.291+4A= c.228+4A= (n.228+4A=) n.272+4A= c.5070+4A= (n.5070+4A=) n.1056+4A= c.382+4A= c.5076+4A= (n.5076+4A=) c.363+4A= (n.363+4A=) c.5085+4A= (n.5085+4A=) c.4929+4A= (n.4929+4A=) c.327+4A= n.460+4A= c.471+4A= (n.471+4A=) n.61+4A= c.5271+4A= (n.5271+4A=) c.1125+4A= (n.1125+4A=) c.528+4A= (n.528+4A=) | |
19 | g.13235612A>C | CA404336506 | CACNA1A | c.5067+2T>G (n.5067+2T>G) c.5073+2T>G (n.5073+2T>G) c.486+2T>G n.291+2T>G c.228+2T>G (n.228+2T>G) n.272+2T>G c.5070+2T>G (n.5070+2T>G) n.1056+2T>G c.382+2T>G c.5076+2T>G (n.5076+2T>G) c.363+2T>G (n.363+2T>G) c.5085+2T>G (n.5085+2T>G) c.4929+2T>G (n.4929+2T>G) c.327+2T>G n.460+2T>G c.471+2T>G (n.471+2T>G) n.61+2T>G c.5271+2T>G (n.5271+2T>G) c.1125+2T>G (n.1125+2T>G) c.528+2T>G (n.528+2T>G) | |
19 | g.13235612A>G | CA404336508 | CACNA1A | c.5067+2T>C (n.5067+2T>C) c.5073+2T>C (n.5073+2T>C) c.486+2T>C n.291+2T>C c.228+2T>C (n.228+2T>C) n.272+2T>C c.5070+2T>C (n.5070+2T>C) n.1056+2T>C c.382+2T>C c.5076+2T>C (n.5076+2T>C) c.363+2T>C (n.363+2T>C) c.5085+2T>C (n.5085+2T>C) c.4929+2T>C (n.4929+2T>C) c.327+2T>C n.460+2T>C c.471+2T>C (n.471+2T>C) n.61+2T>C c.5271+2T>C (n.5271+2T>C) c.1125+2T>C (n.1125+2T>C) c.528+2T>C (n.528+2T>C) | |
19 | g.13235612A>T | CA404336510 | CACNA1A | c.5067+2T>A (n.5067+2T>A) c.5073+2T>A (n.5073+2T>A) c.486+2T>A n.291+2T>A c.228+2T>A (n.228+2T>A) n.272+2T>A c.5070+2T>A (n.5070+2T>A) n.1056+2T>A c.382+2T>A c.5076+2T>A (n.5076+2T>A) c.363+2T>A (n.363+2T>A) c.5085+2T>A (n.5085+2T>A) c.4929+2T>A (n.4929+2T>A) c.327+2T>A n.460+2T>A c.471+2T>A (n.471+2T>A) n.61+2T>A c.5271+2T>A (n.5271+2T>A) c.1125+2T>A (n.1125+2T>A) c.528+2T>A (n.528+2T>A) | |
19 | g.13235613C>A | CA404336513 | CACNA1A | c.5067+1G>T (n.5067+1G>T) c.5073+1G>T (n.5073+1G>T) c.486+1G>T n.291+1G>T c.228+1G>T (n.228+1G>T) n.272+1G>T c.5070+1G>T (n.5070+1G>T) n.1056+1G>T c.382+1G>T c.5076+1G>T (n.5076+1G>T) c.363+1G>T (n.363+1G>T) c.5085+1G>T (n.5085+1G>T) c.4929+1G>T (n.4929+1G>T) c.327+1G>T n.460+1G>T c.471+1G>T (n.471+1G>T) n.61+1G>T c.5271+1G>T (n.5271+1G>T) c.1125+1G>T (n.1125+1G>T) c.528+1G>T (n.528+1G>T) | |
19 | g.13235613C>G | CA404336515 | CACNA1A | c.5067+1G>C (n.5067+1G>C) c.5073+1G>C (n.5073+1G>C) c.486+1G>C n.291+1G>C c.228+1G>C (n.228+1G>C) n.272+1G>C c.5070+1G>C (n.5070+1G>C) n.1056+1G>C c.382+1G>C c.5076+1G>C (n.5076+1G>C) c.363+1G>C (n.363+1G>C) c.5085+1G>C (n.5085+1G>C) c.4929+1G>C (n.4929+1G>C) c.327+1G>C n.460+1G>C c.471+1G>C (n.471+1G>C) n.61+1G>C c.5271+1G>C (n.5271+1G>C) c.1125+1G>C (n.1125+1G>C) c.528+1G>C (n.528+1G>C) | |
19 | g.13235613C>T | CA404336516 | CACNA1A | c.5067+1G>A (n.5067+1G>A) c.5073+1G>A (n.5073+1G>A) c.486+1G>A n.291+1G>A c.228+1G>A (n.228+1G>A) n.272+1G>A c.5070+1G>A (n.5070+1G>A) n.1056+1G>A c.382+1G>A c.5076+1G>A (n.5076+1G>A) c.363+1G>A (n.363+1G>A) c.5085+1G>A (n.5085+1G>A) c.4929+1G>A (n.4929+1G>A) c.327+1G>A n.460+1G>A c.471+1G>A (n.471+1G>A) n.61+1G>A c.5271+1G>A (n.5271+1G>A) c.1125+1G>A (n.1125+1G>A) c.528+1G>A (n.528+1G>A) | |
19 | g.13235614C>A | CA404336517 | CACNA1A | c.5067G>T (p.Lys1689Asn) c.5073G>T (p.Lys1691Asn) c.486G>T n.291G>T c.228G>T (p.Lys76Asn) n.272G>T c.5070G>T (p.Lys1690Asn) n.1056G>T c.382G>T c.5076G>T (p.Lys1692Asn) c.363G>T (p.Lys121Asn) c.5085G>T (p.Lys1695Asn) c.4929G>T (p.Lys1643Asn) c.327G>T n.460G>T c.471G>T (p.Lys157Asn) n.61G>T c.5271G>T (p.Lys1757Asn) c.1125G>T (p.Lys375Asn) c.528G>T (p.Lys176Asn) | |
19 | g.13235614C>G | CA404336519 | CACNA1A | c.5067G>C (p.Lys1689Asn) c.5073G>C (p.Lys1691Asn) c.486G>C n.291G>C c.228G>C (p.Lys76Asn) n.272G>C c.5070G>C (p.Lys1690Asn) n.1056G>C c.382G>C c.5076G>C (p.Lys1692Asn) c.363G>C (p.Lys121Asn) c.5085G>C (p.Lys1695Asn) c.4929G>C (p.Lys1643Asn) c.327G>C n.460G>C c.471G>C (p.Lys157Asn) n.61G>C c.5271G>C (p.Lys1757Asn) c.1125G>C (p.Lys375Asn) c.528G>C (p.Lys176Asn) | |
19 | g.13235614C>T | CA505658742 | CACNA1A | c.5067G>A (p.Lys1689=) c.5073G>A (p.Lys1691=) c.486G>A n.291G>A c.228G>A (p.Lys76=) n.272G>A c.5070G>A (p.Lys1690=) n.1056G>A c.382G>A c.5076G>A (p.Lys1692=) c.363G>A (p.Lys121=) c.5085G>A (p.Lys1695=) c.4929G>A (p.Lys1643=) c.327G>A n.460G>A c.471G>A (p.Lys157=) n.61G>A c.5271G>A (p.Lys1757=) c.1125G>A (p.Lys375=) c.528G>A (p.Lys176=) | gnomAD v4 |
19 | g.13235615T>A | CA404336524 | CACNA1A | c.5066A>T (p.Lys1689Met) c.5072A>T (p.Lys1691Met) c.485A>T n.290A>T c.227A>T (p.Lys76Met) n.271A>T c.5069A>T (p.Lys1690Met) n.1055A>T c.381A>T c.5075A>T (p.Lys1692Met) c.362A>T (p.Lys121Met) c.5084A>T (p.Lys1695Met) c.4928A>T (p.Lys1643Met) c.326A>T n.459A>T c.470A>T (p.Lys157Met) n.60A>T c.5270A>T (p.Lys1757Met) c.1124A>T (p.Lys375Met) c.527A>T (p.Lys176Met) | |
19 | g.13235615T>C | CA404336526 | CACNA1A | c.5066A>G (p.Lys1689Arg) c.5072A>G (p.Lys1691Arg) c.485A>G n.290A>G c.227A>G (p.Lys76Arg) n.271A>G c.5069A>G (p.Lys1690Arg) n.1055A>G c.381A>G c.5075A>G (p.Lys1692Arg) c.362A>G (p.Lys121Arg) c.5084A>G (p.Lys1695Arg) c.4928A>G (p.Lys1643Arg) c.326A>G n.459A>G c.470A>G (p.Lys157Arg) n.60A>G c.5270A>G (p.Lys1757Arg) c.1124A>G (p.Lys375Arg) c.527A>G (p.Lys176Arg) | gnomAD v4 |
19 | g.13235615T>G | CA404336522 | CACNA1A | c.5066A>C (p.Lys1689Thr) c.5072A>C (p.Lys1691Thr) c.485A>C n.290A>C c.227A>C (p.Lys76Thr) n.271A>C c.5069A>C (p.Lys1690Thr) n.1055A>C c.381A>C c.5075A>C (p.Lys1692Thr) c.362A>C (p.Lys121Thr) c.5084A>C (p.Lys1695Thr) c.4928A>C (p.Lys1643Thr) c.326A>C n.459A>C c.470A>C (p.Lys157Thr) n.60A>C c.5270A>C (p.Lys1757Thr) c.1124A>C (p.Lys375Thr) c.527A>C (p.Lys176Thr) | |
19 | g.13235616T>A | CA404336529 | CACNA1A | c.5065A>T (p.Lys1689Ter) c.5071A>T (p.Lys1691Ter) c.484A>T n.289A>T c.226A>T (p.Lys76Ter) n.270A>T c.5068A>T (p.Lys1690Ter) n.1054A>T c.380A>T c.5074A>T (p.Lys1692Ter) c.361A>T (p.Lys121Ter) c.5083A>T (p.Lys1695Ter) c.4927A>T (p.Lys1643Ter) c.325A>T n.458A>T c.469A>T (p.Lys157Ter) n.59A>T c.5269A>T (p.Lys1757Ter) c.1123A>T (p.Lys375Ter) c.526A>T (p.Lys176Ter) | |
19 | g.13235616T>C | CA404336532 | CACNA1A | c.5065A>G (p.Lys1689Glu) c.5071A>G (p.Lys1691Glu) c.484A>G n.289A>G c.226A>G (p.Lys76Glu) n.270A>G c.5068A>G (p.Lys1690Glu) n.1054A>G c.380A>G c.5074A>G (p.Lys1692Glu) c.361A>G (p.Lys121Glu) c.5083A>G (p.Lys1695Glu) c.4927A>G (p.Lys1643Glu) c.325A>G n.458A>G c.469A>G (p.Lys157Glu) n.59A>G c.5269A>G (p.Lys1757Glu) c.1123A>G (p.Lys375Glu) c.526A>G (p.Lys176Glu) | |
19 | g.13235616T>G | CA404336534 | CACNA1A | c.5065A>C (p.Lys1689Gln) c.5071A>C (p.Lys1691Gln) c.484A>C n.289A>C c.226A>C (p.Lys76Gln) n.270A>C c.5068A>C (p.Lys1690Gln) n.1054A>C c.380A>C c.5074A>C (p.Lys1692Gln) c.361A>C (p.Lys121Gln) c.5083A>C (p.Lys1695Gln) c.4927A>C (p.Lys1643Gln) c.325A>C n.458A>C c.469A>C (p.Lys157Gln) n.59A>C c.5269A>C (p.Lys1757Gln) c.1123A>C (p.Lys375Gln) c.526A>C (p.Lys176Gln) | |
19 | g.13235617G>A | CA505658744 | CACNA1A | c.5064C>T (p.Phe1688=) c.5070C>T (p.Phe1690=) c.483C>T n.288C>T c.225C>T (p.Phe75=) n.269C>T c.5067C>T (p.Phe1689=) n.1053C>T c.379C>T c.5073C>T (p.Phe1691=) c.360C>T (p.Phe120=) c.5082C>T (p.Phe1694=) c.4926C>T (p.Phe1642=) c.324C>T n.457C>T c.468C>T (p.Phe156=) n.58C>T c.5268C>T (p.Phe1756=) c.1122C>T (p.Phe374=) c.525C>T (p.Phe175=) | gnomAD v4 |
19 | g.13235617G>C | CA404336536 | CACNA1A | c.5064C>G (p.Phe1688Leu) c.5070C>G (p.Phe1690Leu) c.483C>G n.288C>G c.225C>G (p.Phe75Leu) n.269C>G c.5067C>G (p.Phe1689Leu) n.1053C>G c.379C>G c.5073C>G (p.Phe1691Leu) c.360C>G (p.Phe120Leu) c.5082C>G (p.Phe1694Leu) c.4926C>G (p.Phe1642Leu) c.324C>G n.457C>G c.468C>G (p.Phe156Leu) n.58C>G c.5268C>G (p.Phe1756Leu) c.1122C>G (p.Phe374Leu) c.525C>G (p.Phe175Leu) | |
19 | g.13235617G>T | CA404336538 | CACNA1A | c.5064C>A (p.Phe1688Leu) c.5070C>A (p.Phe1690Leu) c.483C>A n.288C>A c.225C>A (p.Phe75Leu) n.269C>A c.5067C>A (p.Phe1689Leu) n.1053C>A c.379C>A c.5073C>A (p.Phe1691Leu) c.360C>A (p.Phe120Leu) c.5082C>A (p.Phe1694Leu) c.4926C>A (p.Phe1642Leu) c.324C>A n.457C>A c.468C>A (p.Phe156Leu) n.58C>A c.5268C>A (p.Phe1756Leu) c.1122C>A (p.Phe374Leu) c.525C>A (p.Phe175Leu) | |
19 | g.13235618A>C | CA404336540 | CACNA1A | c.5063T>G (p.Phe1688Cys) c.5069T>G (p.Phe1690Cys) c.482T>G n.287T>G c.224T>G (p.Phe75Cys) n.268T>G c.5066T>G (p.Phe1689Cys) n.1052T>G c.378T>G c.5072T>G (p.Phe1691Cys) c.359T>G (p.Phe120Cys) c.5081T>G (p.Phe1694Cys) c.4925T>G (p.Phe1642Cys) c.323T>G n.456T>G c.467T>G (p.Phe156Cys) n.57T>G c.5267T>G (p.Phe1756Cys) c.1121T>G (p.Phe374Cys) c.524T>G (p.Phe175Cys) | |
19 | g.13235618A>G | CA404336542 | CACNA1A | c.5063T>C (p.Phe1688Ser) c.5069T>C (p.Phe1690Ser) c.482T>C n.287T>C c.224T>C (p.Phe75Ser) n.268T>C c.5066T>C (p.Phe1689Ser) n.1052T>C c.378T>C c.5072T>C (p.Phe1691Ser) c.359T>C (p.Phe120Ser) c.5081T>C (p.Phe1694Ser) c.4925T>C (p.Phe1642Ser) c.323T>C n.456T>C c.467T>C (p.Phe156Ser) n.57T>C c.5267T>C (p.Phe1756Ser) c.1121T>C (p.Phe374Ser) c.524T>C (p.Phe175Ser) | |
19 | g.13235618A>T | CA404336543 | CACNA1A | c.5063T>A (p.Phe1688Tyr) c.5069T>A (p.Phe1690Tyr) c.482T>A n.287T>A c.224T>A (p.Phe75Tyr) n.268T>A c.5066T>A (p.Phe1689Tyr) n.1052T>A c.378T>A c.5072T>A (p.Phe1691Tyr) c.359T>A (p.Phe120Tyr) c.5081T>A (p.Phe1694Tyr) c.4925T>A (p.Phe1642Tyr) c.323T>A n.456T>A c.467T>A (p.Phe156Tyr) n.57T>A c.5267T>A (p.Phe1756Tyr) c.1121T>A (p.Phe374Tyr) c.524T>A (p.Phe175Tyr) | |
19 | g.13235619A>C | CA404336544 | CACNA1A | c.5062T>G (p.Phe1688Val) c.5068T>G (p.Phe1690Val) c.481T>G n.286T>G c.223T>G (p.Phe75Val) n.267T>G c.5065T>G (p.Phe1689Val) n.1051T>G c.377T>G c.5071T>G (p.Phe1691Val) c.358T>G (p.Phe120Val) c.5080T>G (p.Phe1694Val) c.4924T>G (p.Phe1642Val) c.322T>G n.455T>G c.466T>G (p.Phe156Val) n.56T>G c.5266T>G (p.Phe1756Val) c.1120T>G (p.Phe374Val) c.523T>G (p.Phe175Val) | |
19 | g.13235619A>G | CA404336545 | CACNA1A | c.5062T>C (p.Phe1688Leu) c.5068T>C (p.Phe1690Leu) c.481T>C n.286T>C c.223T>C (p.Phe75Leu) n.267T>C c.5065T>C (p.Phe1689Leu) n.1051T>C c.377T>C c.5071T>C (p.Phe1691Leu) c.358T>C (p.Phe120Leu) c.5080T>C (p.Phe1694Leu) c.4924T>C (p.Phe1642Leu) c.322T>C n.455T>C c.466T>C (p.Phe156Leu) n.56T>C c.5266T>C (p.Phe1756Leu) c.1120T>C (p.Phe374Leu) c.523T>C (p.Phe175Leu) | |
19 | g.13235619A>T | CA404336547 | CACNA1A | c.5062T>A (p.Phe1688Ile) c.5068T>A (p.Phe1690Ile) c.481T>A n.286T>A c.223T>A (p.Phe75Ile) n.267T>A c.5065T>A (p.Phe1689Ile) n.1051T>A c.377T>A c.5071T>A (p.Phe1691Ile) c.358T>A (p.Phe120Ile) c.5080T>A (p.Phe1694Ile) c.4924T>A (p.Phe1642Ile) c.322T>A n.455T>A c.466T>A (p.Phe156Ile) n.56T>A c.5266T>A (p.Phe1756Ile) c.1120T>A (p.Phe374Ile) c.523T>A (p.Phe175Ile) | |
19 | g.13235620G>A | CA9239854 | CACNA1A | c.5061C>T (p.Ser1687=) c.5067C>T (p.Ser1689=) c.480C>T n.285C>T c.222C>T (p.Ser74=) n.266C>T c.5064C>T (p.Ser1688=) n.1050C>T c.376C>T c.5070C>T (p.Ser1690=) c.357C>T (p.Ser119=) c.5079C>T (p.Ser1693=) c.4923C>T (p.Ser1641=) c.321C>T n.454C>T c.465C>T (p.Ser155=) n.55C>T c.5265C>T (p.Ser1755=) c.1119C>T (p.Ser373=) c.522C>T (p.Ser174=) | dbSNP ExAC gnomAD v4 |
19 | g.13235620G>C | CA505658745 | CACNA1A | c.5061C>G (p.Ser1687=) c.5067C>G (p.Ser1689=) c.480C>G n.285C>G c.222C>G (p.Ser74=) n.266C>G c.5064C>G (p.Ser1688=) n.1050C>G c.376C>G c.5070C>G (p.Ser1690=) c.357C>G (p.Ser119=) c.5079C>G (p.Ser1693=) c.4923C>G (p.Ser1641=) c.321C>G n.454C>G c.465C>G (p.Ser155=) n.55C>G c.5265C>G (p.Ser1755=) c.1119C>G (p.Ser373=) c.522C>G (p.Ser174=) | |
19 | g.13235620G= | CA2323795757 | CACNA1A | c.5061C= (p.Ser1687=) c.5067C= (p.Ser1689=) c.480C= n.285C= c.222C= (p.Ser74=) n.266C= c.5064C= (p.Ser1688=) n.1050C= c.376C= c.5070C= (p.Ser1690=) c.357C= (p.Ser119=) c.5079C= (p.Ser1693=) c.4923C= (p.Ser1641=) c.321C= n.454C= c.465C= (p.Ser155=) n.55C= c.5265C= (p.Ser1755=) c.1119C= (p.Ser373=) c.522C= (p.Ser174=) | |
19 | g.13235620G>T | CA505658746 | CACNA1A | c.5061C>A (p.Ser1687=) c.5067C>A (p.Ser1689=) c.480C>A n.285C>A c.222C>A (p.Ser74=) n.266C>A c.5064C>A (p.Ser1688=) n.1050C>A c.376C>A c.5070C>A (p.Ser1690=) c.357C>A (p.Ser119=) c.5079C>A (p.Ser1693=) c.4923C>A (p.Ser1641=) c.321C>A n.454C>A c.465C>A (p.Ser155=) n.55C>A c.5265C>A (p.Ser1755=) c.1119C>A (p.Ser373=) c.522C>A (p.Ser174=) | |
19 | g.13235621G>A | CA404336552 | CACNA1A | c.5060C>T (p.Ser1687Phe) c.5066C>T (p.Ser1689Phe) c.479C>T n.284C>T c.221C>T (p.Ser74Phe) n.265C>T c.5063C>T (p.Ser1688Phe) n.1049C>T c.375C>T c.5069C>T (p.Ser1690Phe) c.356C>T (p.Ser119Phe) c.5078C>T (p.Ser1693Phe) c.4922C>T (p.Ser1641Phe) c.320C>T n.453C>T c.464C>T (p.Ser155Phe) n.54C>T c.5264C>T (p.Ser1755Phe) c.1118C>T (p.Ser373Phe) c.521C>T (p.Ser174Phe) | ClinVar dbSNP |
19 | g.13235621G>C | CA404336555 | CACNA1A | c.5060C>G (p.Ser1687Cys) c.5066C>G (p.Ser1689Cys) c.479C>G n.284C>G c.221C>G (p.Ser74Cys) n.265C>G c.5063C>G (p.Ser1688Cys) n.1049C>G c.375C>G c.5069C>G (p.Ser1690Cys) c.356C>G (p.Ser119Cys) c.5078C>G (p.Ser1693Cys) c.4922C>G (p.Ser1641Cys) c.320C>G n.453C>G c.464C>G (p.Ser155Cys) n.54C>G c.5264C>G (p.Ser1755Cys) c.1118C>G (p.Ser373Cys) c.521C>G (p.Ser174Cys) | gnomAD v4 |
19 | g.13235621G= | CA2323795758 | CACNA1A | c.5060C= (p.Ser1687=) c.5066C= (p.Ser1689=) c.479C= n.284C= c.221C= (p.Ser74=) n.265C= c.5063C= (p.Ser1688=) n.1049C= c.375C= c.5069C= (p.Ser1690=) c.356C= (p.Ser119=) c.5078C= (p.Ser1693=) c.4922C= (p.Ser1641=) c.320C= n.453C= c.464C= (p.Ser155=) n.54C= c.5264C= (p.Ser1755=) c.1118C= (p.Ser373=) c.521C= (p.Ser174=) | |
19 | g.13235621G>T | CA404336550 | CACNA1A | c.5060C>A (p.Ser1687Tyr) c.5066C>A (p.Ser1689Tyr) c.479C>A n.284C>A c.221C>A (p.Ser74Tyr) n.265C>A c.5063C>A (p.Ser1688Tyr) n.1049C>A c.375C>A c.5069C>A (p.Ser1690Tyr) c.356C>A (p.Ser119Tyr) c.5078C>A (p.Ser1693Tyr) c.4922C>A (p.Ser1641Tyr) c.320C>A n.453C>A c.464C>A (p.Ser155Tyr) n.54C>A c.5264C>A (p.Ser1755Tyr) c.1118C>A (p.Ser373Tyr) c.521C>A (p.Ser174Tyr) | |
19 | g.13235622A>C | CA404336557 | CACNA1A | c.5059T>G (p.Ser1687Ala) c.5065T>G (p.Ser1689Ala) c.478T>G n.283T>G c.220T>G (p.Ser74Ala) n.264T>G c.5062T>G (p.Ser1688Ala) n.1048T>G c.374T>G c.5068T>G (p.Ser1690Ala) c.355T>G (p.Ser119Ala) c.5077T>G (p.Ser1693Ala) c.4921T>G (p.Ser1641Ala) c.319T>G n.452T>G c.463T>G (p.Ser155Ala) n.53T>G c.5263T>G (p.Ser1755Ala) c.1117T>G (p.Ser373Ala) c.520T>G (p.Ser174Ala) | |
19 | g.13235622A>G | CA404336559 | CACNA1A | c.5059T>C (p.Ser1687Pro) c.5065T>C (p.Ser1689Pro) c.478T>C n.283T>C c.220T>C (p.Ser74Pro) n.264T>C c.5062T>C (p.Ser1688Pro) n.1048T>C c.374T>C c.5068T>C (p.Ser1690Pro) c.355T>C (p.Ser119Pro) c.5077T>C (p.Ser1693Pro) c.4921T>C (p.Ser1641Pro) c.319T>C n.452T>C c.463T>C (p.Ser155Pro) n.53T>C c.5263T>C (p.Ser1755Pro) c.1117T>C (p.Ser373Pro) c.520T>C (p.Ser174Pro) | |
19 | g.13235622A>T | CA404336562 | CACNA1A | c.5059T>A (p.Ser1687Thr) c.5065T>A (p.Ser1689Thr) c.478T>A n.283T>A c.220T>A (p.Ser74Thr) n.264T>A c.5062T>A (p.Ser1688Thr) n.1048T>A c.374T>A c.5068T>A (p.Ser1690Thr) c.355T>A (p.Ser119Thr) c.5077T>A (p.Ser1693Thr) c.4921T>A (p.Ser1641Thr) c.319T>A n.452T>A c.463T>A (p.Ser155Thr) n.53T>A c.5263T>A (p.Ser1755Thr) c.1117T>A (p.Ser373Thr) c.520T>A (p.Ser174Thr) | |
19 | g.13235623C>A | CA404336564 | CACNA1A | c.5058G>T (p.Gln1686His) c.5064G>T (p.Gln1688His) c.477G>T n.282G>T c.219G>T (p.Gln73His) n.263G>T c.5061G>T (p.Gln1687His) n.1047G>T c.373G>T c.5067G>T (p.Gln1689His) c.354G>T (p.Gln118His) c.5076G>T (p.Gln1692His) c.4920G>T (p.Gln1640His) c.318G>T n.451G>T c.462G>T (p.Gln154His) n.52G>T c.5262G>T (p.Gln1754His) c.1116G>T (p.Gln372His) c.519G>T (p.Gln173His) | |
19 | g.13235623C>G | CA404336566 | CACNA1A | c.5058G>C (p.Gln1686His) c.5064G>C (p.Gln1688His) c.477G>C n.282G>C c.219G>C (p.Gln73His) n.263G>C c.5061G>C (p.Gln1687His) n.1047G>C c.373G>C c.5067G>C (p.Gln1689His) c.354G>C (p.Gln118His) c.5076G>C (p.Gln1692His) c.4920G>C (p.Gln1640His) c.318G>C n.451G>C c.462G>C (p.Gln154His) n.52G>C c.5262G>C (p.Gln1754His) c.1116G>C (p.Gln372His) c.519G>C (p.Gln173His) | ClinVar |
19 | g.13235623C>T | CA505658747 | CACNA1A | c.5058G>A (p.Gln1686=) c.5064G>A (p.Gln1688=) c.477G>A n.282G>A c.219G>A (p.Gln73=) n.263G>A c.5061G>A (p.Gln1687=) n.1047G>A c.373G>A c.5067G>A (p.Gln1689=) c.354G>A (p.Gln118=) c.5076G>A (p.Gln1692=) c.4920G>A (p.Gln1640=) c.318G>A n.451G>A c.462G>A (p.Gln154=) n.52G>A c.5262G>A (p.Gln1754=) c.1116G>A (p.Gln372=) c.519G>A (p.Gln173=) | dbSNP |
19 | g.13235624T>A | CA404336574 | CACNA1A | c.5057A>T (p.Gln1686Leu) c.5063A>T (p.Gln1688Leu) c.476A>T n.281A>T c.218A>T (p.Gln73Leu) n.262A>T c.5060A>T (p.Gln1687Leu) n.1046A>T c.372A>T c.5066A>T (p.Gln1689Leu) c.353A>T (p.Gln118Leu) c.5075A>T (p.Gln1692Leu) c.4919A>T (p.Gln1640Leu) c.317A>T n.450A>T c.461A>T (p.Gln154Leu) n.51A>T c.5261A>T (p.Gln1754Leu) c.1115A>T (p.Gln372Leu) c.518A>T (p.Gln173Leu) | |
19 | g.13235624T>C | CA404336567 | CACNA1A | c.5057A>G (p.Gln1686Arg) c.5063A>G (p.Gln1688Arg) c.476A>G n.281A>G c.218A>G (p.Gln73Arg) n.262A>G c.5060A>G (p.Gln1687Arg) n.1046A>G c.372A>G c.5066A>G (p.Gln1689Arg) c.353A>G (p.Gln118Arg) c.5075A>G (p.Gln1692Arg) c.4919A>G (p.Gln1640Arg) c.317A>G n.450A>G c.461A>G (p.Gln154Arg) n.51A>G c.5261A>G (p.Gln1754Arg) c.1115A>G (p.Gln372Arg) c.518A>G (p.Gln173Arg) | ClinVar dbSNP |
19 | g.13235624T>G | CA404336568 | CACNA1A | c.5057A>C (p.Gln1686Pro) c.5063A>C (p.Gln1688Pro) c.476A>C n.281A>C c.218A>C (p.Gln73Pro) n.262A>C c.5060A>C (p.Gln1687Pro) n.1046A>C c.372A>C c.5066A>C (p.Gln1689Pro) c.353A>C (p.Gln118Pro) c.5075A>C (p.Gln1692Pro) c.4919A>C (p.Gln1640Pro) c.317A>C n.450A>C c.461A>C (p.Gln154Pro) n.51A>C c.5261A>C (p.Gln1754Pro) c.1115A>C (p.Gln372Pro) c.518A>C (p.Gln173Pro) | |
19 | g.13235624T= | CA2323795759 | CACNA1A | c.5057A= (p.Gln1686=) c.5063A= (p.Gln1688=) c.476A= n.281A= c.218A= (p.Gln73=) n.262A= c.5060A= (p.Gln1687=) n.1046A= c.372A= c.5066A= (p.Gln1689=) c.353A= (p.Gln118=) c.5075A= (p.Gln1692=) c.4919A= (p.Gln1640=) c.317A= n.450A= c.461A= (p.Gln154=) n.51A= c.5261A= (p.Gln1754=) c.1115A= (p.Gln372=) c.518A= (p.Gln173=) | |
19 | g.13235625del | CA2576642015 | CACNA1A | c.5056del (p.Gln1686SerfsTer12) c.5062del (p.Gln1688SerfsTer12) c.475del n.280del c.217del (p.Gln73SerfsTer12) n.261del c.5059del (p.Gln1687SerfsTer12) n.1045del c.371del c.217del (p.Gln73SerfsTer?) c.5065del (p.Gln1689SerfsTer12) c.352del (p.Gln118SerfsTer12) c.5074del (p.Gln1692SerfsTer12) c.4918del (p.Gln1640SerfsTer12) c.316del n.449del c.460del (p.Gln154SerfsTer12) n.50del c.5260del (p.Gln1754SerfsTer12) c.1114del (p.Gln372SerfsTer12) c.517del (p.Gln173SerfsTer12) | |
19 | g.13235625G>A | CA404336577 | CACNA1A | c.5056C>T (p.Gln1686Ter) c.5062C>T (p.Gln1688Ter) c.475C>T n.280C>T c.217C>T (p.Gln73Ter) n.261C>T c.5059C>T (p.Gln1687Ter) n.1045C>T c.371C>T c.5065C>T (p.Gln1689Ter) c.352C>T (p.Gln118Ter) c.5074C>T (p.Gln1692Ter) c.4918C>T (p.Gln1640Ter) c.316C>T n.449C>T c.460C>T (p.Gln154Ter) n.50C>T c.5260C>T (p.Gln1754Ter) c.1114C>T (p.Gln372Ter) c.517C>T (p.Gln173Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.13235625G>C | CA404336579 | CACNA1A | c.5056C>G (p.Gln1686Glu) c.5062C>G (p.Gln1688Glu) c.475C>G n.280C>G c.217C>G (p.Gln73Glu) n.261C>G c.5059C>G (p.Gln1687Glu) n.1045C>G c.371C>G c.5065C>G (p.Gln1689Glu) c.352C>G (p.Gln118Glu) c.5074C>G (p.Gln1692Glu) c.4918C>G (p.Gln1640Glu) c.316C>G n.449C>G c.460C>G (p.Gln154Glu) n.50C>G c.5260C>G (p.Gln1754Glu) c.1114C>G (p.Gln372Glu) c.517C>G (p.Gln173Glu) | |
19 | g.13235625G= | CA2323795760 | CACNA1A | c.5056C= (p.Gln1686=) c.5062C= (p.Gln1688=) c.475C= n.280C= c.217C= (p.Gln73=) n.261C= c.5059C= (p.Gln1687=) n.1045C= c.371C= c.5065C= (p.Gln1689=) c.352C= (p.Gln118=) c.5074C= (p.Gln1692=) c.4918C= (p.Gln1640=) c.316C= n.449C= c.460C= (p.Gln154=) n.50C= c.5260C= (p.Gln1754=) c.1114C= (p.Gln372=) c.517C= (p.Gln173=) | |
19 | g.13235625G>T | CA404336581 | CACNA1A | c.5056C>A (p.Gln1686Lys) c.5062C>A (p.Gln1688Lys) c.475C>A n.280C>A c.217C>A (p.Gln73Lys) n.261C>A c.5059C>A (p.Gln1687Lys) n.1045C>A c.371C>A c.5065C>A (p.Gln1689Lys) c.352C>A (p.Gln118Lys) c.5074C>A (p.Gln1692Lys) c.4918C>A (p.Gln1640Lys) c.316C>A n.449C>A c.460C>A (p.Gln154Lys) n.50C>A c.5260C>A (p.Gln1754Lys) c.1114C>A (p.Gln372Lys) c.517C>A (p.Gln173Lys) | |
19 | g.13235626C>A | CA505658748 | CACNA1A | c.5055G>T (p.Val1685=) c.5061G>T (p.Val1687=) c.474G>T n.279G>T c.216G>T (p.Val72=) n.260G>T c.5058G>T (p.Val1686=) n.1044G>T c.370G>T c.5064G>T (p.Val1688=) c.351G>T (p.Val117=) c.5073G>T (p.Val1691=) c.4917G>T (p.Val1639=) c.315G>T n.448G>T c.459G>T (p.Val153=) n.49G>T c.5259G>T (p.Val1753=) c.1113G>T (p.Val371=) c.516G>T (p.Val172=) | |
19 | g.13235626C= | CA2323795761 | CACNA1A | c.5055G= (p.Val1685=) c.5061G= (p.Val1687=) c.474G= n.279G= c.216G= (p.Val72=) n.260G= c.5058G= (p.Val1686=) n.1044G= c.370G= c.5064G= (p.Val1688=) c.351G= (p.Val117=) c.5073G= (p.Val1691=) c.4917G= (p.Val1639=) c.315G= n.448G= c.459G= (p.Val153=) n.49G= c.5259G= (p.Val1753=) c.1113G= (p.Val371=) c.516G= (p.Val172=) | |
19 | g.13235626C>G | CA505658749 | CACNA1A | c.5055G>C (p.Val1685=) c.5061G>C (p.Val1687=) c.474G>C n.279G>C c.216G>C (p.Val72=) n.260G>C c.5058G>C (p.Val1686=) n.1044G>C c.370G>C c.5064G>C (p.Val1688=) c.351G>C (p.Val117=) c.5073G>C (p.Val1691=) c.4917G>C (p.Val1639=) c.315G>C n.448G>C c.459G>C (p.Val153=) n.49G>C c.5259G>C (p.Val1753=) c.1113G>C (p.Val371=) c.516G>C (p.Val172=) | |
19 | g.13235626C>T | CA505658750 | CACNA1A | c.5055G>A (p.Val1685=) c.5061G>A (p.Val1687=) c.474G>A n.279G>A c.216G>A (p.Val72=) n.260G>A c.5058G>A (p.Val1686=) n.1044G>A c.370G>A c.5064G>A (p.Val1688=) c.351G>A (p.Val117=) c.5073G>A (p.Val1691=) c.4917G>A (p.Val1639=) c.315G>A n.448G>A c.459G>A (p.Val153=) n.49G>A c.5259G>A (p.Val1753=) c.1113G>A (p.Val371=) c.516G>A (p.Val172=) | dbSNP |
19 | g.13235627A>C | CA404336583 | CACNA1A | c.5054T>G (p.Val1685Gly) c.5060T>G (p.Val1687Gly) c.473T>G n.278T>G c.215T>G (p.Val72Gly) n.259T>G c.5057T>G (p.Val1686Gly) n.1043T>G c.369T>G c.5063T>G (p.Val1688Gly) c.350T>G (p.Val117Gly) c.5072T>G (p.Val1691Gly) c.4916T>G (p.Val1639Gly) c.314T>G n.447T>G c.458T>G (p.Val153Gly) n.48T>G c.5258T>G (p.Val1753Gly) c.1112T>G (p.Val371Gly) c.515T>G (p.Val172Gly) | |
19 | g.13235627A>G | CA404336585 | CACNA1A | c.5054T>C (p.Val1685Ala) c.5060T>C (p.Val1687Ala) c.473T>C n.278T>C c.215T>C (p.Val72Ala) n.259T>C c.5057T>C (p.Val1686Ala) n.1043T>C c.369T>C c.5063T>C (p.Val1688Ala) c.350T>C (p.Val117Ala) c.5072T>C (p.Val1691Ala) c.4916T>C (p.Val1639Ala) c.314T>C n.447T>C c.458T>C (p.Val153Ala) n.48T>C c.5258T>C (p.Val1753Ala) c.1112T>C (p.Val371Ala) c.515T>C (p.Val172Ala) | |
19 | g.13235627A>T | CA404336587 | CACNA1A | c.5054T>A (p.Val1685Glu) c.5060T>A (p.Val1687Glu) c.473T>A n.278T>A c.215T>A (p.Val72Glu) n.259T>A c.5057T>A (p.Val1686Glu) n.1043T>A c.369T>A c.5063T>A (p.Val1688Glu) c.350T>A (p.Val117Glu) c.5072T>A (p.Val1691Glu) c.4916T>A (p.Val1639Glu) c.314T>A n.447T>A c.458T>A (p.Val153Glu) n.48T>A c.5258T>A (p.Val1753Glu) c.1112T>A (p.Val371Glu) c.515T>A (p.Val172Glu) | |
19 | g.13235628C>A | CA404336590 | CACNA1A | c.5053G>T (p.Val1685Leu) c.5059G>T (p.Val1687Leu) c.472G>T n.277G>T c.214G>T (p.Val72Leu) n.258G>T c.5056G>T (p.Val1686Leu) n.1042G>T c.368G>T c.5062G>T (p.Val1688Leu) c.349G>T (p.Val117Leu) c.5071G>T (p.Val1691Leu) c.4915G>T (p.Val1639Leu) c.313G>T n.446G>T c.457G>T (p.Val153Leu) n.47G>T c.5257G>T (p.Val1753Leu) c.1111G>T (p.Val371Leu) c.514G>T (p.Val172Leu) | |
19 | g.13235628C= | CA2323795762 | CACNA1A | c.5053G= (p.Val1685=) c.5059G= (p.Val1687=) c.472G= n.277G= c.214G= (p.Val72=) n.258G= c.5056G= (p.Val1686=) n.1042G= c.368G= c.5062G= (p.Val1688=) c.349G= (p.Val117=) c.5071G= (p.Val1691=) c.4915G= (p.Val1639=) c.313G= n.446G= c.457G= (p.Val153=) n.47G= c.5257G= (p.Val1753=) c.1111G= (p.Val371=) c.514G= (p.Val172=) | |
19 | g.13235628C>G | CA404336592 | CACNA1A | c.5053G>C (p.Val1685Leu) c.5059G>C (p.Val1687Leu) c.472G>C n.277G>C c.214G>C (p.Val72Leu) n.258G>C c.5056G>C (p.Val1686Leu) n.1042G>C c.368G>C c.5062G>C (p.Val1688Leu) c.349G>C (p.Val117Leu) c.5071G>C (p.Val1691Leu) c.4915G>C (p.Val1639Leu) c.313G>C n.446G>C c.457G>C (p.Val153Leu) n.47G>C c.5257G>C (p.Val1753Leu) c.1111G>C (p.Val371Leu) c.514G>C (p.Val172Leu) | |
19 | g.13235628C>T | CA404336589 | CACNA1A | c.5053G>A (p.Val1685Met) c.5059G>A (p.Val1687Met) c.472G>A n.277G>A c.214G>A (p.Val72Met) n.258G>A c.5056G>A (p.Val1686Met) n.1042G>A c.368G>A c.5062G>A (p.Val1688Met) c.349G>A (p.Val117Met) c.5071G>A (p.Val1691Met) c.4915G>A (p.Val1639Met) c.313G>A n.446G>A c.457G>A (p.Val153Met) n.47G>A c.5257G>A (p.Val1753Met) c.1111G>A (p.Val371Met) c.514G>A (p.Val172Met) | ClinVar dbSNP |
19 | g.13235629A= | CA2323795763 | CACNA1A | c.5052T= (p.Phe1684=) c.5058T= (p.Phe1686=) c.471T= n.276T= c.213T= (p.Phe71=) n.257T= c.5055T= (p.Phe1685=) n.1041T= c.367T= c.5061T= (p.Phe1687=) c.348T= (p.Phe116=) c.5070T= (p.Phe1690=) c.4914T= (p.Phe1638=) c.312T= n.445T= c.456T= (p.Phe152=) n.46T= c.5256T= (p.Phe1752=) c.1110T= (p.Phe370=) c.513T= (p.Phe171=) | |
19 | g.13235629A>C | CA404336596 | CACNA1A | c.5052T>G (p.Phe1684Leu) c.5058T>G (p.Phe1686Leu) c.471T>G n.276T>G c.213T>G (p.Phe71Leu) n.257T>G c.5055T>G (p.Phe1685Leu) n.1041T>G c.367T>G c.5061T>G (p.Phe1687Leu) c.348T>G (p.Phe116Leu) c.5070T>G (p.Phe1690Leu) c.4914T>G (p.Phe1638Leu) c.312T>G n.445T>G c.456T>G (p.Phe152Leu) n.46T>G c.5256T>G (p.Phe1752Leu) c.1110T>G (p.Phe370Leu) c.513T>G (p.Phe171Leu) | |
19 | g.13235629A>G | CA505658751 | CACNA1A | c.5052T>C (p.Phe1684=) c.5058T>C (p.Phe1686=) c.471T>C n.276T>C c.213T>C (p.Phe71=) n.257T>C c.5055T>C (p.Phe1685=) n.1041T>C c.367T>C c.5061T>C (p.Phe1687=) c.348T>C (p.Phe116=) c.5070T>C (p.Phe1690=) c.4914T>C (p.Phe1638=) c.312T>C n.445T>C c.456T>C (p.Phe152=) n.46T>C c.5256T>C (p.Phe1752=) c.1110T>C (p.Phe370=) c.513T>C (p.Phe171=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13235629A>T | CA404336594 | CACNA1A | c.5052T>A (p.Phe1684Leu) c.5058T>A (p.Phe1686Leu) c.471T>A n.276T>A c.213T>A (p.Phe71Leu) n.257T>A c.5055T>A (p.Phe1685Leu) n.1041T>A c.367T>A c.5061T>A (p.Phe1687Leu) c.348T>A (p.Phe116Leu) c.5070T>A (p.Phe1690Leu) c.4914T>A (p.Phe1638Leu) c.312T>A n.445T>A c.456T>A (p.Phe152Leu) n.46T>A c.5256T>A (p.Phe1752Leu) c.1110T>A (p.Phe370Leu) c.513T>A (p.Phe171Leu) | |
19 | g.13235630A>C | CA404336602 | CACNA1A | c.5051T>G (p.Phe1684Cys) c.5057T>G (p.Phe1686Cys) c.470T>G n.275T>G c.212T>G (p.Phe71Cys) n.256T>G c.5054T>G (p.Phe1685Cys) n.1040T>G c.366T>G c.5060T>G (p.Phe1687Cys) c.347T>G (p.Phe116Cys) c.5069T>G (p.Phe1690Cys) c.4913T>G (p.Phe1638Cys) c.311T>G n.444T>G c.455T>G (p.Phe152Cys) n.45T>G c.5255T>G (p.Phe1752Cys) c.1109T>G (p.Phe370Cys) c.512T>G (p.Phe171Cys) | |
19 | g.13235630A>G | CA404336598 | CACNA1A | c.5051T>C (p.Phe1684Ser) c.5057T>C (p.Phe1686Ser) c.470T>C n.275T>C c.212T>C (p.Phe71Ser) n.256T>C c.5054T>C (p.Phe1685Ser) n.1040T>C c.366T>C c.5060T>C (p.Phe1687Ser) c.347T>C (p.Phe116Ser) c.5069T>C (p.Phe1690Ser) c.4913T>C (p.Phe1638Ser) c.311T>C n.444T>C c.455T>C (p.Phe152Ser) n.45T>C c.5255T>C (p.Phe1752Ser) c.1109T>C (p.Phe370Ser) c.512T>C (p.Phe171Ser) | ClinVar |
19 | g.13235630A>T | CA404336600 | CACNA1A | c.5051T>A (p.Phe1684Tyr) c.5057T>A (p.Phe1686Tyr) c.470T>A n.275T>A c.212T>A (p.Phe71Tyr) n.256T>A c.5054T>A (p.Phe1685Tyr) n.1040T>A c.366T>A c.5060T>A (p.Phe1687Tyr) c.347T>A (p.Phe116Tyr) c.5069T>A (p.Phe1690Tyr) c.4913T>A (p.Phe1638Tyr) c.311T>A n.444T>A c.455T>A (p.Phe152Tyr) n.45T>A c.5255T>A (p.Phe1752Tyr) c.1109T>A (p.Phe370Tyr) c.512T>A (p.Phe171Tyr) | |
19 | g.13235631A>C | CA404336604 | CACNA1A | c.5050T>G (p.Phe1684Val) c.5056T>G (p.Phe1686Val) c.469T>G n.274T>G c.211T>G (p.Phe71Val) n.255T>G c.5053T>G (p.Phe1685Val) n.1039T>G c.365T>G c.5059T>G (p.Phe1687Val) c.346T>G (p.Phe116Val) c.5068T>G (p.Phe1690Val) c.4912T>G (p.Phe1638Val) c.310T>G n.443T>G c.454T>G (p.Phe152Val) n.44T>G c.5254T>G (p.Phe1752Val) c.1108T>G (p.Phe370Val) c.511T>G (p.Phe171Val) | |
19 | g.13235631A>G | CA404336605 | CACNA1A | c.5050T>C (p.Phe1684Leu) c.5056T>C (p.Phe1686Leu) c.469T>C n.274T>C c.211T>C (p.Phe71Leu) n.255T>C c.5053T>C (p.Phe1685Leu) n.1039T>C c.365T>C c.5059T>C (p.Phe1687Leu) c.346T>C (p.Phe116Leu) c.5068T>C (p.Phe1690Leu) c.4912T>C (p.Phe1638Leu) c.310T>C n.443T>C c.454T>C (p.Phe152Leu) n.44T>C c.5254T>C (p.Phe1752Leu) c.1108T>C (p.Phe370Leu) c.511T>C (p.Phe171Leu) | |
19 | g.13235631A>T | CA404336606 | CACNA1A | c.5050T>A (p.Phe1684Ile) c.5056T>A (p.Phe1686Ile) c.469T>A n.274T>A c.211T>A (p.Phe71Ile) n.255T>A c.5053T>A (p.Phe1685Ile) n.1039T>A c.365T>A c.5059T>A (p.Phe1687Ile) c.346T>A (p.Phe116Ile) c.5068T>A (p.Phe1690Ile) c.4912T>A (p.Phe1638Ile) c.310T>A n.443T>A c.454T>A (p.Phe152Ile) n.44T>A c.5254T>A (p.Phe1752Ile) c.1108T>A (p.Phe370Ile) c.511T>A (p.Phe171Ile) | |
19 | g.13235632G>A | CA505658752 | CACNA1A | c.5049C>T (p.Thr1683=) c.5055C>T (p.Thr1685=) c.468C>T n.273C>T c.210C>T (p.Thr70=) n.254C>T c.5052C>T (p.Thr1684=) n.1038C>T c.364C>T c.5058C>T (p.Thr1686=) c.345C>T (p.Thr115=) c.5067C>T (p.Thr1689=) c.4911C>T (p.Thr1637=) c.309C>T n.442C>T c.453C>T (p.Thr151=) n.43C>T c.5253C>T (p.Thr1751=) c.1107C>T (p.Thr369=) c.510C>T (p.Thr170=) | |
19 | g.13235632G>C | CA505658753 | CACNA1A | c.5049C>G (p.Thr1683=) c.5055C>G (p.Thr1685=) c.468C>G n.273C>G c.210C>G (p.Thr70=) n.254C>G c.5052C>G (p.Thr1684=) n.1038C>G c.364C>G c.5058C>G (p.Thr1686=) c.345C>G (p.Thr115=) c.5067C>G (p.Thr1689=) c.4911C>G (p.Thr1637=) c.309C>G n.442C>G c.453C>G (p.Thr151=) n.43C>G c.5253C>G (p.Thr1751=) c.1107C>G (p.Thr369=) c.510C>G (p.Thr170=) | |
19 | g.13235632G>T | CA505658754 | CACNA1A | c.5049C>A (p.Thr1683=) c.5055C>A (p.Thr1685=) c.468C>A n.273C>A c.210C>A (p.Thr70=) n.254C>A c.5052C>A (p.Thr1684=) n.1038C>A c.364C>A c.5058C>A (p.Thr1686=) c.345C>A (p.Thr115=) c.5067C>A (p.Thr1689=) c.4911C>A (p.Thr1637=) c.309C>A n.442C>A c.453C>A (p.Thr151=) n.43C>A c.5253C>A (p.Thr1751=) c.1107C>A (p.Thr369=) c.510C>A (p.Thr170=) | |
19 | g.13235633G>A | CA404336607 | CACNA1A | c.5048C>T (p.Thr1683Ile) c.5054C>T (p.Thr1685Ile) c.467C>T n.272C>T c.209C>T (p.Thr70Ile) n.253C>T c.5051C>T (p.Thr1684Ile) n.1037C>T c.363C>T c.5057C>T (p.Thr1686Ile) c.344C>T (p.Thr115Ile) c.5066C>T (p.Thr1689Ile) c.4910C>T (p.Thr1637Ile) c.308C>T n.441C>T c.452C>T (p.Thr151Ile) n.42C>T c.5252C>T (p.Thr1751Ile) c.1106C>T (p.Thr369Ile) c.509C>T (p.Thr170Ile) | ClinVar dbSNP |
19 | g.13235633G>C | CA404336609 | CACNA1A | c.5048C>G (p.Thr1683Ser) c.5054C>G (p.Thr1685Ser) c.467C>G n.272C>G c.209C>G (p.Thr70Ser) n.253C>G c.5051C>G (p.Thr1684Ser) n.1037C>G c.363C>G c.5057C>G (p.Thr1686Ser) c.344C>G (p.Thr115Ser) c.5066C>G (p.Thr1689Ser) c.4910C>G (p.Thr1637Ser) c.308C>G n.441C>G c.452C>G (p.Thr151Ser) n.42C>G c.5252C>G (p.Thr1751Ser) c.1106C>G (p.Thr369Ser) c.509C>G (p.Thr170Ser) | |
19 | g.13235633G= | CA2323795764 | CACNA1A | c.5048C= (p.Thr1683=) c.5054C= (p.Thr1685=) c.467C= n.272C= c.209C= (p.Thr70=) n.253C= c.5051C= (p.Thr1684=) n.1037C= c.363C= c.5057C= (p.Thr1686=) c.344C= (p.Thr115=) c.5066C= (p.Thr1689=) c.4910C= (p.Thr1637=) c.308C= n.441C= c.452C= (p.Thr151=) n.42C= c.5252C= (p.Thr1751=) c.1106C= (p.Thr369=) c.509C= (p.Thr170=) | |
19 | g.13235633G>T | CA404336610 | CACNA1A | c.5048C>A (p.Thr1683Asn) c.5054C>A (p.Thr1685Asn) c.467C>A n.272C>A c.209C>A (p.Thr70Asn) n.253C>A c.5051C>A (p.Thr1684Asn) n.1037C>A c.363C>A c.5057C>A (p.Thr1686Asn) c.344C>A (p.Thr115Asn) c.5066C>A (p.Thr1689Asn) c.4910C>A (p.Thr1637Asn) c.308C>A n.441C>A c.452C>A (p.Thr151Asn) n.42C>A c.5252C>A (p.Thr1751Asn) c.1106C>A (p.Thr369Asn) c.509C>A (p.Thr170Asn) | |
19 | g.13235634T>A | CA404336612 | CACNA1A | c.5047A>T (p.Thr1683Ser) c.5053A>T (p.Thr1685Ser) c.466A>T n.271A>T c.208A>T (p.Thr70Ser) n.252A>T c.5050A>T (p.Thr1684Ser) n.1036A>T c.362A>T c.5056A>T (p.Thr1686Ser) c.343A>T (p.Thr115Ser) c.5065A>T (p.Thr1689Ser) c.4909A>T (p.Thr1637Ser) c.307A>T n.440A>T c.451A>T (p.Thr151Ser) n.41A>T c.5251A>T (p.Thr1751Ser) c.1105A>T (p.Thr369Ser) c.508A>T (p.Thr170Ser) | |
19 | g.13235634T>C | CA404336614 | CACNA1A | c.5047A>G (p.Thr1683Ala) c.5053A>G (p.Thr1685Ala) c.466A>G n.271A>G c.208A>G (p.Thr70Ala) n.252A>G c.5050A>G (p.Thr1684Ala) n.1036A>G c.362A>G c.5056A>G (p.Thr1686Ala) c.343A>G (p.Thr115Ala) c.5065A>G (p.Thr1689Ala) c.4909A>G (p.Thr1637Ala) c.307A>G n.440A>G c.451A>G (p.Thr151Ala) n.41A>G c.5251A>G (p.Thr1751Ala) c.1105A>G (p.Thr369Ala) c.508A>G (p.Thr170Ala) | |
19 | g.13235634T>G | CA404336620 | CACNA1A | c.5047A>C (p.Thr1683Pro) c.5053A>C (p.Thr1685Pro) c.466A>C n.271A>C c.208A>C (p.Thr70Pro) n.252A>C c.5050A>C (p.Thr1684Pro) n.1036A>C c.362A>C c.5056A>C (p.Thr1686Pro) c.343A>C (p.Thr115Pro) c.5065A>C (p.Thr1689Pro) c.4909A>C (p.Thr1637Pro) c.307A>C n.440A>C c.451A>C (p.Thr151Pro) n.41A>C c.5251A>C (p.Thr1751Pro) c.1105A>C (p.Thr369Pro) c.508A>C (p.Thr170Pro) | |
19 | g.13235635C>A | CA404336628 | CACNA1A | c.5046G>T (p.Trp1682Cys) c.5052G>T (p.Trp1684Cys) c.465G>T n.270G>T c.207G>T (p.Trp69Cys) n.251G>T c.5049G>T (p.Trp1683Cys) n.1035G>T c.361G>T c.5055G>T (p.Trp1685Cys) c.342G>T (p.Trp114Cys) c.5064G>T (p.Trp1688Cys) c.4908G>T (p.Trp1636Cys) c.306G>T n.439G>T c.450G>T (p.Trp150Cys) n.40G>T c.5250G>T (p.Trp1750Cys) c.1104G>T (p.Trp368Cys) c.507G>T (p.Trp169Cys) | |
19 | g.13235635C>G | CA404336626 | CACNA1A | c.5046G>C (p.Trp1682Cys) c.5052G>C (p.Trp1684Cys) c.465G>C n.270G>C c.207G>C (p.Trp69Cys) n.251G>C c.5049G>C (p.Trp1683Cys) n.1035G>C c.361G>C c.5055G>C (p.Trp1685Cys) c.342G>C (p.Trp114Cys) c.5064G>C (p.Trp1688Cys) c.4908G>C (p.Trp1636Cys) c.306G>C n.439G>C c.450G>C (p.Trp150Cys) n.40G>C c.5250G>C (p.Trp1750Cys) c.1104G>C (p.Trp368Cys) c.507G>C (p.Trp169Cys) | |
19 | g.13235635C>T | CA404336624 | CACNA1A | c.5046G>A (p.Trp1682Ter) c.5052G>A (p.Trp1684Ter) c.465G>A n.270G>A c.207G>A (p.Trp69Ter) n.251G>A c.5049G>A (p.Trp1683Ter) n.1035G>A c.361G>A c.5055G>A (p.Trp1685Ter) c.342G>A (p.Trp114Ter) c.5064G>A (p.Trp1688Ter) c.4908G>A (p.Trp1636Ter) c.306G>A n.439G>A c.450G>A (p.Trp150Ter) n.40G>A c.5250G>A (p.Trp1750Ter) c.1104G>A (p.Trp368Ter) c.507G>A (p.Trp169Ter) | |
19 | g.13235636C>A | CA404336630 | CACNA1A | c.5045G>T (p.Trp1682Leu) c.5051G>T (p.Trp1684Leu) c.464G>T n.269G>T c.206G>T (p.Trp69Leu) n.250G>T c.5048G>T (p.Trp1683Leu) n.1034G>T c.360G>T c.5054G>T (p.Trp1685Leu) c.341G>T (p.Trp114Leu) c.5063G>T (p.Trp1688Leu) c.4907G>T (p.Trp1636Leu) c.305G>T n.438G>T c.449G>T (p.Trp150Leu) n.39G>T c.5249G>T (p.Trp1750Leu) c.1103G>T (p.Trp368Leu) c.506G>T (p.Trp169Leu) | |
19 | g.13235636C>G | CA404336633 | CACNA1A | c.5045G>C (p.Trp1682Ser) c.5051G>C (p.Trp1684Ser) c.464G>C n.269G>C c.206G>C (p.Trp69Ser) n.250G>C c.5048G>C (p.Trp1683Ser) n.1034G>C c.360G>C c.5054G>C (p.Trp1685Ser) c.341G>C (p.Trp114Ser) c.5063G>C (p.Trp1688Ser) c.4907G>C (p.Trp1636Ser) c.305G>C n.438G>C c.449G>C (p.Trp150Ser) n.39G>C c.5249G>C (p.Trp1750Ser) c.1103G>C (p.Trp368Ser) c.506G>C (p.Trp169Ser) | |
19 | g.13235636C>T | CA404336634 | CACNA1A | c.5045G>A (p.Trp1682Ter) c.5051G>A (p.Trp1684Ter) c.464G>A n.269G>A c.206G>A (p.Trp69Ter) n.250G>A c.5048G>A (p.Trp1683Ter) n.1034G>A c.360G>A c.5054G>A (p.Trp1685Ter) c.341G>A (p.Trp114Ter) c.5063G>A (p.Trp1688Ter) c.4907G>A (p.Trp1636Ter) c.305G>A n.438G>A c.449G>A (p.Trp150Ter) n.39G>A c.5249G>A (p.Trp1750Ter) c.1103G>A (p.Trp368Ter) c.506G>A (p.Trp169Ter) | |
19 | g.13235637A= | CA2323795765 | CACNA1A | c.5044T= (p.Trp1682=) c.5050T= (p.Trp1684=) c.463T= n.268T= c.205T= (p.Trp69=) n.249T= c.5047T= (p.Trp1683=) n.1033T= c.359T= c.5053T= (p.Trp1685=) c.340T= (p.Trp114=) c.5062T= (p.Trp1688=) c.4906T= (p.Trp1636=) c.304T= n.437T= c.448T= (p.Trp150=) n.38T= c.5248T= (p.Trp1750=) c.1102T= (p.Trp368=) c.505T= (p.Trp169=) | |
19 | g.13235637A>C | CA404336637 | CACNA1A | c.5044T>G (p.Trp1682Gly) c.5050T>G (p.Trp1684Gly) c.463T>G n.268T>G c.205T>G (p.Trp69Gly) n.249T>G c.5047T>G (p.Trp1683Gly) n.1033T>G c.359T>G c.5053T>G (p.Trp1685Gly) c.340T>G (p.Trp114Gly) c.5062T>G (p.Trp1688Gly) c.4906T>G (p.Trp1636Gly) c.304T>G n.437T>G c.448T>G (p.Trp150Gly) n.38T>G c.5248T>G (p.Trp1750Gly) c.1102T>G (p.Trp368Gly) c.505T>G (p.Trp169Gly) | |
19 | g.13235637A>G | CA266059 | CACNA1A | c.5044T>C (p.Trp1682Arg) c.5050T>C (p.Trp1684Arg) c.463T>C n.268T>C c.205T>C (p.Trp69Arg) n.249T>C c.5047T>C (p.Trp1683Arg) n.1033T>C c.359T>C c.5053T>C (p.Trp1685Arg) c.340T>C (p.Trp114Arg) c.5062T>C (p.Trp1688Arg) c.4906T>C (p.Trp1636Arg) c.304T>C n.437T>C c.448T>C (p.Trp150Arg) n.38T>C c.5248T>C (p.Trp1750Arg) c.1102T>C (p.Trp368Arg) c.505T>C (p.Trp169Arg) | ClinVar dbSNP |
19 | g.13235637A>T | CA404336641 | CACNA1A | c.5044T>A (p.Trp1682Arg) c.5050T>A (p.Trp1684Arg) c.463T>A n.268T>A c.205T>A (p.Trp69Arg) n.249T>A c.5047T>A (p.Trp1683Arg) n.1033T>A c.359T>A c.5053T>A (p.Trp1685Arg) c.340T>A (p.Trp114Arg) c.5062T>A (p.Trp1688Arg) c.4906T>A (p.Trp1636Arg) c.304T>A n.437T>A c.448T>A (p.Trp150Arg) n.38T>A c.5248T>A (p.Trp1750Arg) c.1102T>A (p.Trp368Arg) c.505T>A (p.Trp169Arg) | |
19 | g.13235638G>A | CA505658755 | CACNA1A | c.5043C>T (p.Leu1681=) c.5049C>T (p.Leu1683=) c.462C>T n.267C>T c.204C>T (p.Leu68=) n.248C>T c.5046C>T (p.Leu1682=) n.1032C>T c.358C>T c.5052C>T (p.Leu1684=) c.339C>T (p.Leu113=) c.5061C>T (p.Leu1687=) c.4905C>T (p.Leu1635=) c.303C>T n.436C>T c.447C>T (p.Leu149=) n.37C>T c.5247C>T (p.Leu1749=) c.1101C>T (p.Leu367=) c.504C>T (p.Leu168=) | dbSNP |
19 | g.13235638G>C | CA505658756 | CACNA1A | c.5043C>G (p.Leu1681=) c.5049C>G (p.Leu1683=) c.462C>G n.267C>G c.204C>G (p.Leu68=) n.248C>G c.5046C>G (p.Leu1682=) n.1032C>G c.358C>G c.5052C>G (p.Leu1684=) c.339C>G (p.Leu113=) c.5061C>G (p.Leu1687=) c.4905C>G (p.Leu1635=) c.303C>G n.436C>G c.447C>G (p.Leu149=) n.37C>G c.5247C>G (p.Leu1749=) c.1101C>G (p.Leu367=) c.504C>G (p.Leu168=) | |
19 | g.13235638G= | CA2323795766 | CACNA1A | c.5043C= (p.Leu1681=) c.5049C= (p.Leu1683=) c.462C= n.267C= c.204C= (p.Leu68=) n.248C= c.5046C= (p.Leu1682=) n.1032C= c.358C= c.5052C= (p.Leu1684=) c.339C= (p.Leu113=) c.5061C= (p.Leu1687=) c.4905C= (p.Leu1635=) c.303C= n.436C= c.447C= (p.Leu149=) n.37C= c.5247C= (p.Leu1749=) c.1101C= (p.Leu367=) c.504C= (p.Leu168=) | |
19 | g.13235638G>T | CA505658757 | CACNA1A | c.5043C>A (p.Leu1681=) c.5049C>A (p.Leu1683=) c.462C>A n.267C>A c.204C>A (p.Leu68=) n.248C>A c.5046C>A (p.Leu1682=) n.1032C>A c.358C>A c.5052C>A (p.Leu1684=) c.339C>A (p.Leu113=) c.5061C>A (p.Leu1687=) c.4905C>A (p.Leu1635=) c.303C>A n.436C>A c.447C>A (p.Leu149=) n.37C>A c.5247C>A (p.Leu1749=) c.1101C>A (p.Leu367=) c.504C>A (p.Leu168=) | |
19 | g.13235639A>C | CA404336643 | CACNA1A | c.5042T>G (p.Leu1681Arg) c.5048T>G (p.Leu1683Arg) c.461T>G n.266T>G c.203T>G (p.Leu68Arg) n.247T>G c.5045T>G (p.Leu1682Arg) n.1031T>G c.357T>G c.5051T>G (p.Leu1684Arg) c.338T>G (p.Leu113Arg) c.5060T>G (p.Leu1687Arg) c.4904T>G (p.Leu1635Arg) c.302T>G n.435T>G c.446T>G (p.Leu149Arg) n.36T>G c.5246T>G (p.Leu1749Arg) c.1100T>G (p.Leu367Arg) c.503T>G (p.Leu168Arg) | |
19 | g.13235639A>G | CA404336644 | CACNA1A | c.5042T>C (p.Leu1681Pro) c.5048T>C (p.Leu1683Pro) c.461T>C n.266T>C c.203T>C (p.Leu68Pro) n.247T>C c.5045T>C (p.Leu1682Pro) n.1031T>C c.357T>C c.5051T>C (p.Leu1684Pro) c.338T>C (p.Leu113Pro) c.5060T>C (p.Leu1687Pro) c.4904T>C (p.Leu1635Pro) c.302T>C n.435T>C c.446T>C (p.Leu149Pro) n.36T>C c.5246T>C (p.Leu1749Pro) c.1100T>C (p.Leu367Pro) c.503T>C (p.Leu168Pro) | |
19 | g.13235639A>T | CA404336645 | CACNA1A | c.5042T>A (p.Leu1681His) c.5048T>A (p.Leu1683His) c.461T>A n.266T>A c.203T>A (p.Leu68His) n.247T>A c.5045T>A (p.Leu1682His) n.1031T>A c.357T>A c.5051T>A (p.Leu1684His) c.338T>A (p.Leu113His) c.5060T>A (p.Leu1687His) c.4904T>A (p.Leu1635His) c.302T>A n.435T>A c.446T>A (p.Leu149His) n.36T>A c.5246T>A (p.Leu1749His) c.1100T>A (p.Leu367His) c.503T>A (p.Leu168His) | |
19 | g.13235640G>A | CA404336646 | CACNA1A | c.5041C>T (p.Leu1681Phe) c.5047C>T (p.Leu1683Phe) c.460C>T n.265C>T c.202C>T (p.Leu68Phe) n.246C>T c.5044C>T (p.Leu1682Phe) n.1030C>T c.356C>T c.5050C>T (p.Leu1684Phe) c.337C>T (p.Leu113Phe) c.5059C>T (p.Leu1687Phe) c.4903C>T (p.Leu1635Phe) c.301C>T n.434C>T c.445C>T (p.Leu149Phe) n.35C>T c.5245C>T (p.Leu1749Phe) c.1099C>T (p.Leu367Phe) c.502C>T (p.Leu168Phe) | |
19 | g.13235640G>C | CA404336647 | CACNA1A | c.5041C>G (p.Leu1681Val) c.5047C>G (p.Leu1683Val) c.460C>G n.265C>G c.202C>G (p.Leu68Val) n.246C>G c.5044C>G (p.Leu1682Val) n.1030C>G c.356C>G c.5050C>G (p.Leu1684Val) c.337C>G (p.Leu113Val) c.5059C>G (p.Leu1687Val) c.4903C>G (p.Leu1635Val) c.301C>G n.434C>G c.445C>G (p.Leu149Val) n.35C>G c.5245C>G (p.Leu1749Val) c.1099C>G (p.Leu367Val) c.502C>G (p.Leu168Val) | |
19 | g.13235640G>T | CA404336649 | CACNA1A | c.5041C>A (p.Leu1681Ile) c.5047C>A (p.Leu1683Ile) c.460C>A n.265C>A c.202C>A (p.Leu68Ile) n.246C>A c.5044C>A (p.Leu1682Ile) n.1030C>A c.356C>A c.5050C>A (p.Leu1684Ile) c.337C>A (p.Leu113Ile) c.5059C>A (p.Leu1687Ile) c.4903C>A (p.Leu1635Ile) c.301C>A n.434C>A c.445C>A (p.Leu149Ile) n.35C>A c.5245C>A (p.Leu1749Ile) c.1099C>A (p.Leu367Ile) c.502C>A (p.Leu168Ile) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13235641A>C | CA505658760 | CACNA1A | c.5040T>G (p.Leu1680=) c.5046T>G (p.Leu1682=) c.459T>G n.264T>G c.201T>G (p.Leu67=) n.245T>G c.5043T>G (p.Leu1681=) n.1029T>G c.355T>G c.5049T>G (p.Leu1683=) c.336T>G (p.Leu112=) c.5058T>G (p.Leu1686=) c.4902T>G (p.Leu1634=) c.300T>G n.433T>G c.444T>G (p.Leu148=) n.34T>G c.5244T>G (p.Leu1748=) c.1098T>G (p.Leu366=) c.501T>G (p.Leu167=) | |
19 | g.13235641A>G | CA505658759 | CACNA1A | c.5040T>C (p.Leu1680=) c.5046T>C (p.Leu1682=) c.459T>C n.264T>C c.201T>C (p.Leu67=) n.245T>C c.5043T>C (p.Leu1681=) n.1029T>C c.355T>C c.5049T>C (p.Leu1683=) c.336T>C (p.Leu112=) c.5058T>C (p.Leu1686=) c.4902T>C (p.Leu1634=) c.300T>C n.433T>C c.444T>C (p.Leu148=) n.34T>C c.5244T>C (p.Leu1748=) c.1098T>C (p.Leu366=) c.501T>C (p.Leu167=) | |
19 | g.13235641A>T | CA505658758 | CACNA1A | c.5040T>A (p.Leu1680=) c.5046T>A (p.Leu1682=) c.459T>A n.264T>A c.201T>A (p.Leu67=) n.245T>A c.5043T>A (p.Leu1681=) n.1029T>A c.355T>A c.5049T>A (p.Leu1683=) c.336T>A (p.Leu112=) c.5058T>A (p.Leu1686=) c.4902T>A (p.Leu1634=) c.300T>A n.433T>A c.444T>A (p.Leu148=) n.34T>A c.5244T>A (p.Leu1748=) c.1098T>A (p.Leu366=) c.501T>A (p.Leu167=) | |
19 | g.13235642A>C | CA404336654 | CACNA1A | c.5039T>G (p.Leu1680Arg) c.5045T>G (p.Leu1682Arg) c.458T>G n.263T>G c.200T>G (p.Leu67Arg) n.244T>G c.5042T>G (p.Leu1681Arg) n.1028T>G c.354T>G c.5048T>G (p.Leu1683Arg) c.335T>G (p.Leu112Arg) c.5057T>G (p.Leu1686Arg) c.4901T>G (p.Leu1634Arg) c.299T>G n.432T>G c.443T>G (p.Leu148Arg) n.33T>G c.5243T>G (p.Leu1748Arg) c.1097T>G (p.Leu366Arg) c.500T>G (p.Leu167Arg) | |
19 | g.13235642A>G | CA404336655 | CACNA1A | c.5039T>C (p.Leu1680Pro) c.5045T>C (p.Leu1682Pro) c.458T>C n.263T>C c.200T>C (p.Leu67Pro) n.244T>C c.5042T>C (p.Leu1681Pro) n.1028T>C c.354T>C c.5048T>C (p.Leu1683Pro) c.335T>C (p.Leu112Pro) c.5057T>C (p.Leu1686Pro) c.4901T>C (p.Leu1634Pro) c.299T>C n.432T>C c.443T>C (p.Leu148Pro) n.33T>C c.5243T>C (p.Leu1748Pro) c.1097T>C (p.Leu366Pro) c.500T>C (p.Leu167Pro) | |
19 | g.13235642A>T | CA404336652 | CACNA1A | c.5039T>A (p.Leu1680His) c.5045T>A (p.Leu1682His) c.458T>A n.263T>A c.200T>A (p.Leu67His) n.244T>A c.5042T>A (p.Leu1681His) n.1028T>A c.354T>A c.5048T>A (p.Leu1683His) c.335T>A (p.Leu112His) c.5057T>A (p.Leu1686His) c.4901T>A (p.Leu1634His) c.299T>A n.432T>A c.443T>A (p.Leu148His) n.33T>A c.5243T>A (p.Leu1748His) c.1097T>A (p.Leu366His) c.500T>A (p.Leu167His) | |
19 | g.13235643G>A | CA404336656 | CACNA1A | c.5038C>T (p.Leu1680Phe) c.5044C>T (p.Leu1682Phe) c.457C>T n.262C>T c.199C>T (p.Leu67Phe) n.243C>T c.5041C>T (p.Leu1681Phe) n.1027C>T c.353C>T c.5047C>T (p.Leu1683Phe) c.334C>T (p.Leu112Phe) c.5056C>T (p.Leu1686Phe) c.4900C>T (p.Leu1634Phe) c.298C>T n.431C>T c.442C>T (p.Leu148Phe) n.32C>T c.5242C>T (p.Leu1748Phe) c.1096C>T (p.Leu366Phe) c.499C>T (p.Leu167Phe) | |
19 | g.13235643G>C | CA404336658 | CACNA1A | c.5038C>G (p.Leu1680Val) c.5044C>G (p.Leu1682Val) c.457C>G n.262C>G c.199C>G (p.Leu67Val) n.243C>G c.5041C>G (p.Leu1681Val) n.1027C>G c.353C>G c.5047C>G (p.Leu1683Val) c.334C>G (p.Leu112Val) c.5056C>G (p.Leu1686Val) c.4900C>G (p.Leu1634Val) c.298C>G n.431C>G c.442C>G (p.Leu148Val) n.32C>G c.5242C>G (p.Leu1748Val) c.1096C>G (p.Leu366Val) c.499C>G (p.Leu167Val) | |
19 | g.13235643G>T | CA404336659 | CACNA1A | c.5038C>A (p.Leu1680Ile) c.5044C>A (p.Leu1682Ile) c.457C>A n.262C>A c.199C>A (p.Leu67Ile) n.243C>A c.5041C>A (p.Leu1681Ile) n.1027C>A c.353C>A c.5047C>A (p.Leu1683Ile) c.334C>A (p.Leu112Ile) c.5056C>A (p.Leu1686Ile) c.4900C>A (p.Leu1634Ile) c.298C>A n.431C>A c.442C>A (p.Leu148Ile) n.32C>A c.5242C>A (p.Leu1748Ile) c.1096C>A (p.Leu366Ile) c.499C>A (p.Leu167Ile) | |
19 | g.13235644A>C | CA404336660 | CACNA1A | c.5037T>G (p.Ile1679Met) c.5043T>G (p.Ile1681Met) c.456T>G n.261T>G c.198T>G (p.Ile66Met) n.242T>G c.5040T>G (p.Ile1680Met) n.1026T>G c.352T>G c.5046T>G (p.Ile1682Met) c.333T>G (p.Ile111Met) c.5055T>G (p.Ile1685Met) c.4899T>G (p.Ile1633Met) c.297T>G n.430T>G c.441T>G (p.Ile147Met) n.31T>G c.5241T>G (p.Ile1747Met) c.1095T>G (p.Ile365Met) c.498T>G (p.Ile166Met) | |
19 | g.13235644A>G | CA505658761 | CACNA1A | c.5037T>C (p.Ile1679=) c.5043T>C (p.Ile1681=) c.456T>C n.261T>C c.198T>C (p.Ile66=) n.242T>C c.5040T>C (p.Ile1680=) n.1026T>C c.352T>C c.5046T>C (p.Ile1682=) c.333T>C (p.Ile111=) c.5055T>C (p.Ile1685=) c.4899T>C (p.Ile1633=) c.297T>C n.430T>C c.441T>C (p.Ile147=) n.31T>C c.5241T>C (p.Ile1747=) c.1095T>C (p.Ile365=) c.498T>C (p.Ile166=) | |
19 | g.13235644A>T | CA505658762 | CACNA1A | c.5037T>A (p.Ile1679=) c.5043T>A (p.Ile1681=) c.456T>A n.261T>A c.198T>A (p.Ile66=) n.242T>A c.5040T>A (p.Ile1680=) n.1026T>A c.352T>A c.5046T>A (p.Ile1682=) c.333T>A (p.Ile111=) c.5055T>A (p.Ile1685=) c.4899T>A (p.Ile1633=) c.297T>A n.430T>A c.441T>A (p.Ile147=) n.31T>A c.5241T>A (p.Ile1747=) c.1095T>A (p.Ile365=) c.498T>A (p.Ile166=) | |
19 | g.13235645A>C | CA404336662 | CACNA1A | c.5036T>G (p.Ile1679Ser) c.5042T>G (p.Ile1681Ser) c.455T>G n.260T>G c.197T>G (p.Ile66Ser) n.241T>G c.5039T>G (p.Ile1680Ser) n.1025T>G c.351T>G c.5045T>G (p.Ile1682Ser) c.332T>G (p.Ile111Ser) c.5054T>G (p.Ile1685Ser) c.4898T>G (p.Ile1633Ser) c.296T>G n.429T>G c.440T>G (p.Ile147Ser) n.30T>G c.5240T>G (p.Ile1747Ser) c.1094T>G (p.Ile365Ser) c.497T>G (p.Ile166Ser) | |
19 | g.13235645A>G | CA404336663 | CACNA1A | c.5036T>C (p.Ile1679Thr) c.5042T>C (p.Ile1681Thr) c.455T>C n.260T>C c.197T>C (p.Ile66Thr) n.241T>C c.5039T>C (p.Ile1680Thr) n.1025T>C c.351T>C c.5045T>C (p.Ile1682Thr) c.332T>C (p.Ile111Thr) c.5054T>C (p.Ile1685Thr) c.4898T>C (p.Ile1633Thr) c.296T>C n.429T>C c.440T>C (p.Ile147Thr) n.30T>C c.5240T>C (p.Ile1747Thr) c.1094T>C (p.Ile365Thr) c.497T>C (p.Ile166Thr) | |
19 | g.13235645A>T | CA404336665 | CACNA1A | c.5036T>A (p.Ile1679Asn) c.5042T>A (p.Ile1681Asn) c.455T>A n.260T>A c.197T>A (p.Ile66Asn) n.241T>A c.5039T>A (p.Ile1680Asn) n.1025T>A c.351T>A c.5045T>A (p.Ile1682Asn) c.332T>A (p.Ile111Asn) c.5054T>A (p.Ile1685Asn) c.4898T>A (p.Ile1633Asn) c.296T>A n.429T>A c.440T>A (p.Ile147Asn) n.30T>A c.5240T>A (p.Ile1747Asn) c.1094T>A (p.Ile365Asn) c.497T>A (p.Ile166Asn) | |
19 | g.13235646T>A | CA404336668 | CACNA1A | c.5035A>T (p.Ile1679Phe) c.5041A>T (p.Ile1681Phe) c.454A>T n.259A>T c.196A>T (p.Ile66Phe) n.240A>T c.5038A>T (p.Ile1680Phe) n.1024A>T c.350A>T c.5044A>T (p.Ile1682Phe) c.331A>T (p.Ile111Phe) c.5053A>T (p.Ile1685Phe) c.4897A>T (p.Ile1633Phe) c.295A>T n.428A>T c.439A>T (p.Ile147Phe) n.29A>T c.5239A>T (p.Ile1747Phe) c.1093A>T (p.Ile365Phe) c.496A>T (p.Ile166Phe) | |
19 | g.13235646T>C | CA404336670 | CACNA1A | c.5035A>G (p.Ile1679Val) c.5041A>G (p.Ile1681Val) c.454A>G n.259A>G c.196A>G (p.Ile66Val) n.240A>G c.5038A>G (p.Ile1680Val) n.1024A>G c.350A>G c.5044A>G (p.Ile1682Val) c.331A>G (p.Ile111Val) c.5053A>G (p.Ile1685Val) c.4897A>G (p.Ile1633Val) c.295A>G n.428A>G c.439A>G (p.Ile147Val) n.29A>G c.5239A>G (p.Ile1747Val) c.1093A>G (p.Ile365Val) c.496A>G (p.Ile166Val) | dbSNP gnomAD v2 |
19 | g.13235646T>G | CA404336673 | CACNA1A | c.5035A>C (p.Ile1679Leu) c.5041A>C (p.Ile1681Leu) c.454A>C n.259A>C c.196A>C (p.Ile66Leu) n.240A>C c.5038A>C (p.Ile1680Leu) n.1024A>C c.350A>C c.5044A>C (p.Ile1682Leu) c.331A>C (p.Ile111Leu) c.5053A>C (p.Ile1685Leu) c.4897A>C (p.Ile1633Leu) c.295A>C n.428A>C c.439A>C (p.Ile147Leu) n.29A>C c.5239A>C (p.Ile1747Leu) c.1093A>C (p.Ile365Leu) c.496A>C (p.Ile166Leu) | |
19 | g.13235646T= | CA2323795767 | CACNA1A | c.5035A= (p.Ile1679=) c.5041A= (p.Ile1681=) c.454A= n.259A= c.196A= (p.Ile66=) n.240A= c.5038A= (p.Ile1680=) n.1024A= c.350A= c.5044A= (p.Ile1682=) c.331A= (p.Ile111=) c.5053A= (p.Ile1685=) c.4897A= (p.Ile1633=) c.295A= n.428A= c.439A= (p.Ile147=) n.29A= c.5239A= (p.Ile1747=) c.1093A= (p.Ile365=) c.496A= (p.Ile166=) | |
19 | g.13235647G>A | CA505658763 | CACNA1A | c.5034C>T (p.Arg1678=) c.5040C>T (p.Arg1680=) c.453C>T n.258C>T c.195C>T (p.Arg65=) n.239C>T c.5037C>T (p.Arg1679=) n.1023C>T c.349C>T c.5043C>T (p.Arg1681=) c.330C>T (p.Arg110=) c.5052C>T (p.Arg1684=) c.4896C>T (p.Arg1632=) c.294C>T n.427C>T c.438C>T (p.Arg146=) n.28C>T c.5238C>T (p.Arg1746=) c.1092C>T (p.Arg364=) c.495C>T (p.Arg165=) | gnomAD v4 |
19 | g.13235647G>C | CA505658765 | CACNA1A | c.5034C>G (p.Arg1678=) c.5040C>G (p.Arg1680=) c.453C>G n.258C>G c.195C>G (p.Arg65=) n.239C>G c.5037C>G (p.Arg1679=) n.1023C>G c.349C>G c.5043C>G (p.Arg1681=) c.330C>G (p.Arg110=) c.5052C>G (p.Arg1684=) c.4896C>G (p.Arg1632=) c.294C>G n.427C>G c.438C>G (p.Arg146=) n.28C>G c.5238C>G (p.Arg1746=) c.1092C>G (p.Arg364=) c.495C>G (p.Arg165=) | |
19 | g.13235647G>T | CA505658764 | CACNA1A | c.5034C>A (p.Arg1678=) c.5040C>A (p.Arg1680=) c.453C>A n.258C>A c.195C>A (p.Arg65=) n.239C>A c.5037C>A (p.Arg1679=) n.1023C>A c.349C>A c.5043C>A (p.Arg1681=) c.330C>A (p.Arg110=) c.5052C>A (p.Arg1684=) c.4896C>A (p.Arg1632=) c.294C>A n.427C>A c.438C>A (p.Arg146=) n.28C>A c.5238C>A (p.Arg1746=) c.1092C>A (p.Arg364=) c.495C>A (p.Arg165=) | |
19 | g.13235648C>A | CA404336675 | CACNA1A | c.5033G>T (p.Arg1678Leu) c.5039G>T (p.Arg1680Leu) c.452G>T n.257G>T c.194G>T (p.Arg65Leu) n.238G>T c.5036G>T (p.Arg1679Leu) n.1022G>T c.348G>T c.5042G>T (p.Arg1681Leu) c.329G>T (p.Arg110Leu) c.5051G>T (p.Arg1684Leu) c.4895G>T (p.Arg1632Leu) c.293G>T n.426G>T c.437G>T (p.Arg146Leu) n.27G>T c.5237G>T (p.Arg1746Leu) c.1091G>T (p.Arg364Leu) c.494G>T (p.Arg165Leu) | |
19 | g.13235648C= | CA2323795768 | CACNA1A | c.5033G= (p.Arg1678=) c.5039G= (p.Arg1680=) c.452G= n.257G= c.194G= (p.Arg65=) n.238G= c.5036G= (p.Arg1679=) n.1022G= c.348G= c.5042G= (p.Arg1681=) c.329G= (p.Arg110=) c.5051G= (p.Arg1684=) c.4895G= (p.Arg1632=) c.293G= n.426G= c.437G= (p.Arg146=) n.27G= c.5237G= (p.Arg1746=) c.1091G= (p.Arg364=) c.494G= (p.Arg165=) | |
19 | g.13235648C>G | CA404336677 | CACNA1A | c.5033G>C (p.Arg1678Pro) c.5039G>C (p.Arg1680Pro) c.452G>C n.257G>C c.194G>C (p.Arg65Pro) n.238G>C c.5036G>C (p.Arg1679Pro) n.1022G>C c.348G>C c.5042G>C (p.Arg1681Pro) c.329G>C (p.Arg110Pro) c.5051G>C (p.Arg1684Pro) c.4895G>C (p.Arg1632Pro) c.293G>C n.426G>C c.437G>C (p.Arg146Pro) n.27G>C c.5237G>C (p.Arg1746Pro) c.1091G>C (p.Arg364Pro) c.494G>C (p.Arg165Pro) | |
19 | g.13235648C>T | CA404336679 | CACNA1A | c.5033G>A (p.Arg1678His) c.5039G>A (p.Arg1680His) c.452G>A n.257G>A c.194G>A (p.Arg65His) n.238G>A c.5036G>A (p.Arg1679His) n.1022G>A c.348G>A c.5042G>A (p.Arg1681His) c.329G>A (p.Arg110His) c.5051G>A (p.Arg1684His) c.4895G>A (p.Arg1632His) c.293G>A n.426G>A c.437G>A (p.Arg146His) n.27G>A c.5237G>A (p.Arg1746His) c.1091G>A (p.Arg364His) c.494G>A (p.Arg165His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13235648dup | CA2573332508 | CACNA1A | c.5033dup (p.Ile1679HisfsTer?) c.5039dup (p.Ile1681HisfsTer?) c.452dup n.257dup c.194dup (p.Ile66HisfsTer?) n.238dup c.5036dup (p.Ile1680HisfsTer?) n.1022dup c.348dup c.194dup (p.Ile66HisfsTer15) c.5042dup (p.Ile1682HisfsTer?) c.329dup (p.Ile111HisfsTer?) c.5051dup (p.Ile1685HisfsTer?) c.4895dup (p.Ile1633HisfsTer?) c.293dup n.426dup c.437dup (p.Ile147HisfsTer?) n.27dup c.5237dup (p.Ile1747HisfsTer?) c.1091dup (p.Ile365HisfsTer?) c.494dup (p.Ile166HisfsTer?) | ClinVar |
19 | g.13235649G>A | CA266056 | CACNA1A | c.5032C>T (p.Arg1678Cys) c.5038C>T (p.Arg1680Cys) c.451C>T n.256C>T c.193C>T (p.Arg65Cys) n.237C>T c.5035C>T (p.Arg1679Cys) n.1021C>T c.347C>T c.5041C>T (p.Arg1681Cys) c.328C>T (p.Arg110Cys) c.5050C>T (p.Arg1684Cys) c.4894C>T (p.Arg1632Cys) c.292C>T n.425C>T c.436C>T (p.Arg146Cys) n.26C>T c.5236C>T (p.Arg1746Cys) c.1090C>T (p.Arg364Cys) c.493C>T (p.Arg165Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13235649G>C | CA404336684 | CACNA1A | c.5032C>G (p.Arg1678Gly) c.5038C>G (p.Arg1680Gly) c.451C>G n.256C>G c.193C>G (p.Arg65Gly) n.237C>G c.5035C>G (p.Arg1679Gly) n.1021C>G c.347C>G c.5041C>G (p.Arg1681Gly) c.328C>G (p.Arg110Gly) c.5050C>G (p.Arg1684Gly) c.4894C>G (p.Arg1632Gly) c.292C>G n.425C>G c.436C>G (p.Arg146Gly) n.26C>G c.5236C>G (p.Arg1746Gly) c.1090C>G (p.Arg364Gly) c.493C>G (p.Arg165Gly) | |
19 | g.13235649G= | CA2323795769 | CACNA1A | c.5032C= (p.Arg1678=) c.5038C= (p.Arg1680=) c.451C= n.256C= c.193C= (p.Arg65=) n.237C= c.5035C= (p.Arg1679=) n.1021C= c.347C= c.5041C= (p.Arg1681=) c.328C= (p.Arg110=) c.5050C= (p.Arg1684=) c.4894C= (p.Arg1632=) c.292C= n.425C= c.436C= (p.Arg146=) n.26C= c.5236C= (p.Arg1746=) c.1090C= (p.Arg364=) c.493C= (p.Arg165=) | |
19 | g.13235649G>T | CA404336682 | CACNA1A | c.5032C>A (p.Arg1678Ser) c.5038C>A (p.Arg1680Ser) c.451C>A n.256C>A c.193C>A (p.Arg65Ser) n.237C>A c.5035C>A (p.Arg1679Ser) n.1021C>A c.347C>A c.5041C>A (p.Arg1681Ser) c.328C>A (p.Arg110Ser) c.5050C>A (p.Arg1684Ser) c.4894C>A (p.Arg1632Ser) c.292C>A n.425C>A c.436C>A (p.Arg146Ser) n.26C>A c.5236C>A (p.Arg1746Ser) c.1090C>A (p.Arg364Ser) c.493C>A (p.Arg165Ser) | ClinVar |
19 | g.13235650G>A | CA505658766 | CACNA1A | c.5031C>T (p.Ile1677=) c.5037C>T (p.Ile1679=) c.450C>T n.255C>T c.192C>T (p.Ile64=) n.236C>T c.5034C>T (p.Ile1678=) n.1020C>T c.346C>T c.5040C>T (p.Ile1680=) c.327C>T (p.Ile109=) c.5049C>T (p.Ile1683=) c.4893C>T (p.Ile1631=) c.291C>T n.424C>T c.435C>T (p.Ile145=) n.25C>T c.5235C>T (p.Ile1745=) c.1089C>T (p.Ile363=) c.492C>T (p.Ile164=) | |
19 | g.13235650G>C | CA404336688 | CACNA1A | c.5031C>G (p.Ile1677Met) c.5037C>G (p.Ile1679Met) c.450C>G n.255C>G c.192C>G (p.Ile64Met) n.236C>G c.5034C>G (p.Ile1678Met) n.1020C>G c.346C>G c.5040C>G (p.Ile1680Met) c.327C>G (p.Ile109Met) c.5049C>G (p.Ile1683Met) c.4893C>G (p.Ile1631Met) c.291C>G n.424C>G c.435C>G (p.Ile145Met) n.25C>G c.5235C>G (p.Ile1745Met) c.1089C>G (p.Ile363Met) c.492C>G (p.Ile164Met) | |
19 | g.13235650G= | CA2323795770 | CACNA1A | c.5031C= (p.Ile1677=) c.5037C= (p.Ile1679=) c.450C= n.255C= c.192C= (p.Ile64=) n.236C= c.5034C= (p.Ile1678=) n.1020C= c.346C= c.5040C= (p.Ile1680=) c.327C= (p.Ile109=) c.5049C= (p.Ile1683=) c.4893C= (p.Ile1631=) c.291C= n.424C= c.435C= (p.Ile145=) n.25C= c.5235C= (p.Ile1745=) c.1089C= (p.Ile363=) c.492C= (p.Ile164=) | |
19 | g.13235650G>T | CA505658767 | CACNA1A | c.5031C>A (p.Ile1677=) c.5037C>A (p.Ile1679=) c.450C>A n.255C>A c.192C>A (p.Ile64=) n.236C>A c.5034C>A (p.Ile1678=) n.1020C>A c.346C>A c.5040C>A (p.Ile1680=) c.327C>A (p.Ile109=) c.5049C>A (p.Ile1683=) c.4893C>A (p.Ile1631=) c.291C>A n.424C>A c.435C>A (p.Ile145=) n.25C>A c.5235C>A (p.Ile1745=) c.1089C>A (p.Ile363=) c.492C>A (p.Ile164=) | ClinVar dbSNP |
19 | g.13235651A>C | CA404336691 | CACNA1A | c.5030T>G (p.Ile1677Ser) c.5036T>G (p.Ile1679Ser) c.449T>G n.254T>G c.191T>G (p.Ile64Ser) n.235T>G c.5033T>G (p.Ile1678Ser) n.1019T>G c.345T>G c.5039T>G (p.Ile1680Ser) c.326T>G (p.Ile109Ser) c.5048T>G (p.Ile1683Ser) c.4892T>G (p.Ile1631Ser) c.290T>G n.423T>G c.434T>G (p.Ile145Ser) n.24T>G c.5234T>G (p.Ile1745Ser) c.1088T>G (p.Ile363Ser) c.491T>G (p.Ile164Ser) | |
19 | g.13235651A>G | CA404336694 | CACNA1A | c.5030T>C (p.Ile1677Thr) c.5036T>C (p.Ile1679Thr) c.449T>C n.254T>C c.191T>C (p.Ile64Thr) n.235T>C c.5033T>C (p.Ile1678Thr) n.1019T>C c.345T>C c.5039T>C (p.Ile1680Thr) c.326T>C (p.Ile109Thr) c.5048T>C (p.Ile1683Thr) c.4892T>C (p.Ile1631Thr) c.290T>C n.423T>C c.434T>C (p.Ile145Thr) n.24T>C c.5234T>C (p.Ile1745Thr) c.1088T>C (p.Ile363Thr) c.491T>C (p.Ile164Thr) | |
19 | g.13235651A>T | CA404336697 | CACNA1A | c.5030T>A (p.Ile1677Asn) c.5036T>A (p.Ile1679Asn) c.449T>A n.254T>A c.191T>A (p.Ile64Asn) n.235T>A c.5033T>A (p.Ile1678Asn) n.1019T>A c.345T>A c.5039T>A (p.Ile1680Asn) c.326T>A (p.Ile109Asn) c.5048T>A (p.Ile1683Asn) c.4892T>A (p.Ile1631Asn) c.290T>A n.423T>A c.434T>A (p.Ile145Asn) n.24T>A c.5234T>A (p.Ile1745Asn) c.1088T>A (p.Ile363Asn) c.491T>A (p.Ile164Asn) | |
19 | g.13235652T>A | CA404336699 | CACNA1A | c.5029A>T (p.Ile1677Phe) c.5035A>T (p.Ile1679Phe) c.448A>T n.253A>T c.190A>T (p.Ile64Phe) n.234A>T c.5032A>T (p.Ile1678Phe) n.1018A>T c.344A>T c.5038A>T (p.Ile1680Phe) c.325A>T (p.Ile109Phe) c.5047A>T (p.Ile1683Phe) c.4891A>T (p.Ile1631Phe) c.289A>T n.422A>T c.433A>T (p.Ile145Phe) n.23A>T c.5233A>T (p.Ile1745Phe) c.1087A>T (p.Ile363Phe) c.490A>T (p.Ile164Phe) | |
19 | g.13235652T>C | CA9239855 | CACNA1A | c.5029A>G (p.Ile1677Val) c.5035A>G (p.Ile1679Val) c.448A>G n.253A>G c.190A>G (p.Ile64Val) n.234A>G c.5032A>G (p.Ile1678Val) n.1018A>G c.344A>G c.5038A>G (p.Ile1680Val) c.325A>G (p.Ile109Val) c.5047A>G (p.Ile1683Val) c.4891A>G (p.Ile1631Val) c.289A>G n.422A>G c.433A>G (p.Ile145Val) n.23A>G c.5233A>G (p.Ile1745Val) c.1087A>G (p.Ile363Val) c.490A>G (p.Ile164Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13235652T>G | CA404336703 | CACNA1A | c.5029A>C (p.Ile1677Leu) c.5035A>C (p.Ile1679Leu) c.448A>C n.253A>C c.190A>C (p.Ile64Leu) n.234A>C c.5032A>C (p.Ile1678Leu) n.1018A>C c.344A>C c.5038A>C (p.Ile1680Leu) c.325A>C (p.Ile109Leu) c.5047A>C (p.Ile1683Leu) c.4891A>C (p.Ile1631Leu) c.289A>C n.422A>C c.433A>C (p.Ile145Leu) n.23A>C c.5233A>C (p.Ile1745Leu) c.1087A>C (p.Ile363Leu) c.490A>C (p.Ile164Leu) | |
19 | g.13235652T= | CA2323795771 | CACNA1A | c.5029A= (p.Ile1677=) c.5035A= (p.Ile1679=) c.448A= n.253A= c.190A= (p.Ile64=) n.234A= c.5032A= (p.Ile1678=) n.1018A= c.344A= c.5038A= (p.Ile1680=) c.325A= (p.Ile109=) c.5047A= (p.Ile1683=) c.4891A= (p.Ile1631=) c.289A= n.422A= c.433A= (p.Ile145=) n.23A= c.5233A= (p.Ile1745=) c.1087A= (p.Ile363=) c.490A= (p.Ile164=) | |
19 | g.13235653G>A | CA305517369 | CACNA1A | c.5028C>T (p.Thr1676=) c.5034C>T (p.Thr1678=) c.447C>T n.252C>T c.189C>T (p.Thr63=) n.233C>T c.5031C>T (p.Thr1677=) n.1017C>T c.343C>T c.5037C>T (p.Thr1679=) c.324C>T (p.Thr108=) c.5046C>T (p.Thr1682=) c.4890C>T (p.Thr1630=) c.288C>T n.421C>T c.432C>T (p.Thr144=) n.22C>T c.5232C>T (p.Thr1744=) c.1086C>T (p.Thr362=) c.489C>T (p.Thr163=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13235653G>C | CA505658769 | CACNA1A | c.5028C>G (p.Thr1676=) c.5034C>G (p.Thr1678=) c.447C>G n.252C>G c.189C>G (p.Thr63=) n.233C>G c.5031C>G (p.Thr1677=) n.1017C>G c.343C>G c.5037C>G (p.Thr1679=) c.324C>G (p.Thr108=) c.5046C>G (p.Thr1682=) c.4890C>G (p.Thr1630=) c.288C>G n.421C>G c.432C>G (p.Thr144=) n.22C>G c.5232C>G (p.Thr1744=) c.1086C>G (p.Thr362=) c.489C>G (p.Thr163=) | |
19 | g.13235653G= | CA2323795772 | CACNA1A | c.5028C= (p.Thr1676=) c.5034C= (p.Thr1678=) c.447C= n.252C= c.189C= (p.Thr63=) n.233C= c.5031C= (p.Thr1677=) n.1017C= c.343C= c.5037C= (p.Thr1679=) c.324C= (p.Thr108=) c.5046C= (p.Thr1682=) c.4890C= (p.Thr1630=) c.288C= n.421C= c.432C= (p.Thr144=) n.22C= c.5232C= (p.Thr1744=) c.1086C= (p.Thr362=) c.489C= (p.Thr163=) | |
19 | g.13235653G>T | CA505658768 | CACNA1A | c.5028C>A (p.Thr1676=) c.5034C>A (p.Thr1678=) c.447C>A n.252C>A c.189C>A (p.Thr63=) n.233C>A c.5031C>A (p.Thr1677=) n.1017C>A c.343C>A c.5037C>A (p.Thr1679=) c.324C>A (p.Thr108=) c.5046C>A (p.Thr1682=) c.4890C>A (p.Thr1630=) c.288C>A n.421C>A c.432C>A (p.Thr144=) n.22C>A c.5232C>A (p.Thr1744=) c.1086C>A (p.Thr362=) c.489C>A (p.Thr163=) | |
19 | g.13235654G>A | CA404336708 | CACNA1A | c.5027C>T (p.Thr1676Ile) c.5033C>T (p.Thr1678Ile) c.446C>T n.251C>T c.188C>T (p.Thr63Ile) n.232C>T c.5030C>T (p.Thr1677Ile) n.1016C>T c.342C>T c.5036C>T (p.Thr1679Ile) c.323C>T (p.Thr108Ile) c.5045C>T (p.Thr1682Ile) c.4889C>T (p.Thr1630Ile) c.287C>T n.420C>T c.431C>T (p.Thr144Ile) n.21C>T c.5231C>T (p.Thr1744Ile) c.1085C>T (p.Thr362Ile) c.488C>T (p.Thr163Ile) | |
19 | g.13235654G>C | CA404336710 | CACNA1A | c.5027C>G (p.Thr1676Ser) c.5033C>G (p.Thr1678Ser) c.446C>G n.251C>G c.188C>G (p.Thr63Ser) n.232C>G c.5030C>G (p.Thr1677Ser) n.1016C>G c.342C>G c.5036C>G (p.Thr1679Ser) c.323C>G (p.Thr108Ser) c.5045C>G (p.Thr1682Ser) c.4889C>G (p.Thr1630Ser) c.287C>G n.420C>G c.431C>G (p.Thr144Ser) n.21C>G c.5231C>G (p.Thr1744Ser) c.1085C>G (p.Thr362Ser) c.488C>G (p.Thr163Ser) | |
19 | g.13235654G>T | CA404336713 | CACNA1A | c.5027C>A (p.Thr1676Asn) c.5033C>A (p.Thr1678Asn) c.446C>A n.251C>A c.188C>A (p.Thr63Asn) n.232C>A c.5030C>A (p.Thr1677Asn) n.1016C>A c.342C>A c.5036C>A (p.Thr1679Asn) c.323C>A (p.Thr108Asn) c.5045C>A (p.Thr1682Asn) c.4889C>A (p.Thr1630Asn) c.287C>A n.420C>A c.431C>A (p.Thr144Asn) n.21C>A c.5231C>A (p.Thr1744Asn) c.1085C>A (p.Thr362Asn) c.488C>A (p.Thr163Asn) | |
19 | g.13235655T>A | CA404336716 | CACNA1A | c.5026A>T (p.Thr1676Ser) c.5032A>T (p.Thr1678Ser) c.445A>T n.250A>T c.187A>T (p.Thr63Ser) n.231A>T c.5029A>T (p.Thr1677Ser) n.1015A>T c.341A>T c.5035A>T (p.Thr1679Ser) c.322A>T (p.Thr108Ser) c.5044A>T (p.Thr1682Ser) c.4888A>T (p.Thr1630Ser) c.286A>T n.419A>T c.430A>T (p.Thr144Ser) n.20A>T c.5230A>T (p.Thr1744Ser) c.1084A>T (p.Thr362Ser) c.487A>T (p.Thr163Ser) | |
19 | g.13235655T>C | CA404336720 | CACNA1A | c.5026A>G (p.Thr1676Ala) c.5032A>G (p.Thr1678Ala) c.445A>G n.250A>G c.187A>G (p.Thr63Ala) n.231A>G c.5029A>G (p.Thr1677Ala) n.1015A>G c.341A>G c.5035A>G (p.Thr1679Ala) c.322A>G (p.Thr108Ala) c.5044A>G (p.Thr1682Ala) c.4888A>G (p.Thr1630Ala) c.286A>G n.419A>G c.430A>G (p.Thr144Ala) n.20A>G c.5230A>G (p.Thr1744Ala) c.1084A>G (p.Thr362Ala) c.487A>G (p.Thr163Ala) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13235655T>G | CA404336723 | CACNA1A | c.5026A>C (p.Thr1676Pro) c.5032A>C (p.Thr1678Pro) c.445A>C n.250A>C c.187A>C (p.Thr63Pro) n.231A>C c.5029A>C (p.Thr1677Pro) n.1015A>C c.341A>C c.5035A>C (p.Thr1679Pro) c.322A>C (p.Thr108Pro) c.5044A>C (p.Thr1682Pro) c.4888A>C (p.Thr1630Pro) c.286A>C n.419A>C c.430A>C (p.Thr144Pro) n.20A>C c.5230A>C (p.Thr1744Pro) c.1084A>C (p.Thr362Pro) c.487A>C (p.Thr163Pro) | |
19 | g.13235656G>A | CA505658770 | CACNA1A | c.5025C>T (p.Tyr1675=) c.5031C>T (p.Tyr1677=) c.444C>T n.249C>T c.186C>T (p.Tyr62=) n.230C>T c.5028C>T (p.Tyr1676=) n.1014C>T c.340C>T c.5034C>T (p.Tyr1678=) c.321C>T (p.Tyr107=) c.5043C>T (p.Tyr1681=) c.4887C>T (p.Tyr1629=) c.285C>T n.418C>T c.429C>T (p.Tyr143=) n.19C>T c.5229C>T (p.Tyr1743=) c.1083C>T (p.Tyr361=) c.486C>T (p.Tyr162=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13235656G>C | CA404336728 | CACNA1A | c.5025C>G (p.Tyr1675Ter) c.5031C>G (p.Tyr1677Ter) c.444C>G n.249C>G c.186C>G (p.Tyr62Ter) n.230C>G c.5028C>G (p.Tyr1676Ter) n.1014C>G c.340C>G c.5034C>G (p.Tyr1678Ter) c.321C>G (p.Tyr107Ter) c.5043C>G (p.Tyr1681Ter) c.4887C>G (p.Tyr1629Ter) c.285C>G n.418C>G c.429C>G (p.Tyr143Ter) n.19C>G c.5229C>G (p.Tyr1743Ter) c.1083C>G (p.Tyr361Ter) c.486C>G (p.Tyr162Ter) | |
19 | g.13235656G= | CA2323795773 | CACNA1A | c.5025C= (p.Tyr1675=) c.5031C= (p.Tyr1677=) c.444C= n.249C= c.186C= (p.Tyr62=) n.230C= c.5028C= (p.Tyr1676=) n.1014C= c.340C= c.5034C= (p.Tyr1678=) c.321C= (p.Tyr107=) c.5043C= (p.Tyr1681=) c.4887C= (p.Tyr1629=) c.285C= n.418C= c.429C= (p.Tyr143=) n.19C= c.5229C= (p.Tyr1743=) c.1083C= (p.Tyr361=) c.486C= (p.Tyr162=) | |
19 | g.13235656G>T | CA404336726 | CACNA1A | c.5025C>A (p.Tyr1675Ter) c.5031C>A (p.Tyr1677Ter) c.444C>A n.249C>A c.186C>A (p.Tyr62Ter) n.230C>A c.5028C>A (p.Tyr1676Ter) n.1014C>A c.340C>A c.5034C>A (p.Tyr1678Ter) c.321C>A (p.Tyr107Ter) c.5043C>A (p.Tyr1681Ter) c.4887C>A (p.Tyr1629Ter) c.285C>A n.418C>A c.429C>A (p.Tyr143Ter) n.19C>A c.5229C>A (p.Tyr1743Ter) c.1083C>A (p.Tyr361Ter) c.486C>A (p.Tyr162Ter) | |
19 | g.13235657T>A | CA404336731 | CACNA1A | c.5024A>T (p.Tyr1675Phe) c.5030A>T (p.Tyr1677Phe) c.443A>T n.248A>T c.185A>T (p.Tyr62Phe) n.229A>T c.5027A>T (p.Tyr1676Phe) n.1013A>T c.339A>T c.5033A>T (p.Tyr1678Phe) c.320A>T (p.Tyr107Phe) c.5042A>T (p.Tyr1681Phe) c.4886A>T (p.Tyr1629Phe) c.284A>T n.417A>T c.428A>T (p.Tyr143Phe) n.18A>T c.5228A>T (p.Tyr1743Phe) c.1082A>T (p.Tyr361Phe) c.485A>T (p.Tyr162Phe) | |
19 | g.13235657T>C | CA404336734 | CACNA1A | c.5024A>G (p.Tyr1675Cys) c.5030A>G (p.Tyr1677Cys) c.443A>G n.248A>G c.185A>G (p.Tyr62Cys) n.229A>G c.5027A>G (p.Tyr1676Cys) n.1013A>G c.339A>G c.5033A>G (p.Tyr1678Cys) c.320A>G (p.Tyr107Cys) c.5042A>G (p.Tyr1681Cys) c.4886A>G (p.Tyr1629Cys) c.284A>G n.417A>G c.428A>G (p.Tyr143Cys) n.18A>G c.5228A>G (p.Tyr1743Cys) c.1082A>G (p.Tyr361Cys) c.485A>G (p.Tyr162Cys) | |
19 | g.13235657T>G | CA404336732 | CACNA1A | c.5024A>C (p.Tyr1675Ser) c.5030A>C (p.Tyr1677Ser) c.443A>C n.248A>C c.185A>C (p.Tyr62Ser) n.229A>C c.5027A>C (p.Tyr1676Ser) n.1013A>C c.339A>C c.5033A>C (p.Tyr1678Ser) c.320A>C (p.Tyr107Ser) c.5042A>C (p.Tyr1681Ser) c.4886A>C (p.Tyr1629Ser) c.284A>C n.417A>C c.428A>C (p.Tyr143Ser) n.18A>C c.5228A>C (p.Tyr1743Ser) c.1082A>C (p.Tyr361Ser) c.485A>C (p.Tyr162Ser) | |
19 | g.13235658A>C | CA404336737 | CACNA1A | c.5023T>G (p.Tyr1675Asp) c.5029T>G (p.Tyr1677Asp) c.442T>G n.247T>G c.184T>G (p.Tyr62Asp) n.228T>G c.5026T>G (p.Tyr1676Asp) n.1012T>G c.338T>G c.5032T>G (p.Tyr1678Asp) c.319T>G (p.Tyr107Asp) c.5041T>G (p.Tyr1681Asp) c.4885T>G (p.Tyr1629Asp) c.283T>G n.416T>G c.427T>G (p.Tyr143Asp) n.17T>G c.5227T>G (p.Tyr1743Asp) c.1081T>G (p.Tyr361Asp) c.484T>G (p.Tyr162Asp) | |
19 | g.13235658A>G | CA404336738 | CACNA1A | c.5023T>C (p.Tyr1675His) c.5029T>C (p.Tyr1677His) c.442T>C n.247T>C c.184T>C (p.Tyr62His) n.228T>C c.5026T>C (p.Tyr1676His) n.1012T>C c.338T>C c.5032T>C (p.Tyr1678His) c.319T>C (p.Tyr107His) c.5041T>C (p.Tyr1681His) c.4885T>C (p.Tyr1629His) c.283T>C n.416T>C c.427T>C (p.Tyr143His) n.17T>C c.5227T>C (p.Tyr1743His) c.1081T>C (p.Tyr361His) c.484T>C (p.Tyr162His) | |
19 | g.13235658A>T | CA404336742 | CACNA1A | c.5023T>A (p.Tyr1675Asn) c.5029T>A (p.Tyr1677Asn) c.442T>A n.247T>A c.184T>A (p.Tyr62Asn) n.228T>A c.5026T>A (p.Tyr1676Asn) n.1012T>A c.338T>A c.5032T>A (p.Tyr1678Asn) c.319T>A (p.Tyr107Asn) c.5041T>A (p.Tyr1681Asn) c.4885T>A (p.Tyr1629Asn) c.283T>A n.416T>A c.427T>A (p.Tyr143Asn) n.17T>A c.5227T>A (p.Tyr1743Asn) c.1081T>A (p.Tyr361Asn) c.484T>A (p.Tyr162Asn) | |
19 | g.13235659A>C | CA505658771 | CACNA1A | c.5022T>G (p.Gly1674=) c.5028T>G (p.Gly1676=) c.441T>G n.246T>G c.183T>G (p.Gly61=) n.227T>G c.5025T>G (p.Gly1675=) n.1011T>G c.337T>G c.5031T>G (p.Gly1677=) c.318T>G (p.Gly106=) c.5040T>G (p.Gly1680=) c.4884T>G (p.Gly1628=) c.282T>G n.415T>G c.426T>G (p.Gly142=) n.16T>G c.5226T>G (p.Gly1742=) c.1080T>G (p.Gly360=) c.483T>G (p.Gly161=) | |
19 | g.13235659A>G | CA505658772 | CACNA1A | c.5022T>C (p.Gly1674=) c.5028T>C (p.Gly1676=) c.441T>C n.246T>C c.183T>C (p.Gly61=) n.227T>C c.5025T>C (p.Gly1675=) n.1011T>C c.337T>C c.5031T>C (p.Gly1677=) c.318T>C (p.Gly106=) c.5040T>C (p.Gly1680=) c.4884T>C (p.Gly1628=) c.282T>C n.415T>C c.426T>C (p.Gly142=) n.16T>C c.5226T>C (p.Gly1742=) c.1080T>C (p.Gly360=) c.483T>C (p.Gly161=) | gnomAD v4 |
19 | g.13235659A>T | CA505658773 | CACNA1A | c.5022T>A (p.Gly1674=) c.5028T>A (p.Gly1676=) c.441T>A n.246T>A c.183T>A (p.Gly61=) n.227T>A c.5025T>A (p.Gly1675=) n.1011T>A c.337T>A c.5031T>A (p.Gly1677=) c.318T>A (p.Gly106=) c.5040T>A (p.Gly1680=) c.4884T>A (p.Gly1628=) c.282T>A n.415T>A c.426T>A (p.Gly142=) n.16T>A c.5226T>A (p.Gly1742=) c.1080T>A (p.Gly360=) c.483T>A (p.Gly161=) | |
19 | g.13235660C>A | CA404336744 | CACNA1A | c.5021G>T (p.Gly1674Val) c.5027G>T (p.Gly1676Val) c.440G>T n.245G>T c.182G>T (p.Gly61Val) n.226G>T c.5024G>T (p.Gly1675Val) n.1010G>T c.336G>T c.5030G>T (p.Gly1677Val) c.317G>T (p.Gly106Val) c.5039G>T (p.Gly1680Val) c.4883G>T (p.Gly1628Val) c.281G>T n.414G>T c.425G>T (p.Gly142Val) n.15G>T c.5225G>T (p.Gly1742Val) c.1079G>T (p.Gly360Val) c.482G>T (p.Gly161Val) | ClinVar dbSNP |
19 | g.13235660C= | CA2323795774 | CACNA1A | c.5021G= (p.Gly1674=) c.5027G= (p.Gly1676=) c.440G= n.245G= c.182G= (p.Gly61=) n.226G= c.5024G= (p.Gly1675=) n.1010G= c.336G= c.5030G= (p.Gly1677=) c.317G= (p.Gly106=) c.5039G= (p.Gly1680=) c.4883G= (p.Gly1628=) c.281G= n.414G= c.425G= (p.Gly142=) n.15G= c.5225G= (p.Gly1742=) c.1079G= (p.Gly360=) c.482G= (p.Gly161=) | |
19 | g.13235660C>G | CA404336747 | CACNA1A | c.5021G>C (p.Gly1674Ala) c.5027G>C (p.Gly1676Ala) c.440G>C n.245G>C c.182G>C (p.Gly61Ala) n.226G>C c.5024G>C (p.Gly1675Ala) n.1010G>C c.336G>C c.5030G>C (p.Gly1677Ala) c.317G>C (p.Gly106Ala) c.5039G>C (p.Gly1680Ala) c.4883G>C (p.Gly1628Ala) c.281G>C n.414G>C c.425G>C (p.Gly142Ala) n.15G>C c.5225G>C (p.Gly1742Ala) c.1079G>C (p.Gly360Ala) c.482G>C (p.Gly161Ala) | |
19 | g.13235660C>T | CA305517370 | CACNA1A | c.5021G>A (p.Gly1674Asp) c.5027G>A (p.Gly1676Asp) c.440G>A n.245G>A c.182G>A (p.Gly61Asp) n.226G>A c.5024G>A (p.Gly1675Asp) n.1010G>A c.336G>A c.5030G>A (p.Gly1677Asp) c.317G>A (p.Gly106Asp) c.5039G>A (p.Gly1680Asp) c.4883G>A (p.Gly1628Asp) c.281G>A n.414G>A c.425G>A (p.Gly142Asp) n.15G>A c.5225G>A (p.Gly1742Asp) c.1079G>A (p.Gly360Asp) c.482G>A (p.Gly161Asp) | ClinVar dbSNP |
19 | g.13235662del | CA923726183 | CACNA1A | c.5021del (p.Gly1674ValfsTer24) c.5027del (p.Gly1676ValfsTer24) c.440del n.245del c.182del (p.Gly61ValfsTer24) n.226del c.5024del (p.Gly1675ValfsTer24) n.1010del c.336del c.182del (p.Gly61ValfsTer?) c.5030del (p.Gly1677ValfsTer24) c.317del (p.Gly106ValfsTer24) c.5039del (p.Gly1680ValfsTer24) c.4883del (p.Gly1628ValfsTer24) c.281del n.414del c.425del (p.Gly142ValfsTer24) n.15del c.5225del (p.Gly1742ValfsTer24) c.1079del (p.Gly360ValfsTer24) c.482del (p.Gly161ValfsTer24) | ClinVar |
19 | g.13235661C>A | CA404336751 | CACNA1A | c.5020G>T (p.Gly1674Cys) c.5026G>T (p.Gly1676Cys) c.439G>T n.244G>T c.181G>T (p.Gly61Cys) n.225G>T c.5023G>T (p.Gly1675Cys) n.1009G>T c.335G>T c.5029G>T (p.Gly1677Cys) c.316G>T (p.Gly106Cys) c.5038G>T (p.Gly1680Cys) c.4882G>T (p.Gly1628Cys) c.280G>T n.413G>T c.424G>T (p.Gly142Cys) n.14G>T c.5224G>T (p.Gly1742Cys) c.1078G>T (p.Gly360Cys) c.481G>T (p.Gly161Cys) | |
19 | g.13235661C>G | CA404336754 | CACNA1A | c.5020G>C (p.Gly1674Arg) c.5026G>C (p.Gly1676Arg) c.439G>C n.244G>C c.181G>C (p.Gly61Arg) n.225G>C c.5023G>C (p.Gly1675Arg) n.1009G>C c.335G>C c.5029G>C (p.Gly1677Arg) c.316G>C (p.Gly106Arg) c.5038G>C (p.Gly1680Arg) c.4882G>C (p.Gly1628Arg) c.280G>C n.413G>C c.424G>C (p.Gly142Arg) n.14G>C c.5224G>C (p.Gly1742Arg) c.1078G>C (p.Gly360Arg) c.481G>C (p.Gly161Arg) | |
19 | g.13235661C>T | CA404336756 | CACNA1A | c.5020G>A (p.Gly1674Ser) c.5026G>A (p.Gly1676Ser) c.439G>A n.244G>A c.181G>A (p.Gly61Ser) n.225G>A c.5023G>A (p.Gly1675Ser) n.1009G>A c.335G>A c.5029G>A (p.Gly1677Ser) c.316G>A (p.Gly106Ser) c.5038G>A (p.Gly1680Ser) c.4882G>A (p.Gly1628Ser) c.280G>A n.413G>A c.424G>A (p.Gly142Ser) n.14G>A c.5224G>A (p.Gly1742Ser) c.1078G>A (p.Gly360Ser) c.481G>A (p.Gly161Ser) | |
19 | g.13235662C>A | CA404336759 | CACNA1A | c.5019G>T (p.Gln1673His) c.5025G>T (p.Gln1675His) c.438G>T n.243G>T c.180G>T (p.Gln60His) n.224G>T c.5022G>T (p.Gln1674His) n.1008G>T c.334G>T c.5028G>T (p.Gln1676His) c.315G>T (p.Gln105His) c.5037G>T (p.Gln1679His) c.4881G>T (p.Gln1627His) c.279G>T n.412G>T c.423G>T (p.Gln141His) n.13G>T c.5223G>T (p.Gln1741His) c.1077G>T (p.Gln359His) c.480G>T (p.Gln160His) | |
19 | g.13235662C>G | CA404336760 | CACNA1A | c.5019G>C (p.Gln1673His) c.5025G>C (p.Gln1675His) c.438G>C n.243G>C c.180G>C (p.Gln60His) n.224G>C c.5022G>C (p.Gln1674His) n.1008G>C c.334G>C c.5028G>C (p.Gln1676His) c.315G>C (p.Gln105His) c.5037G>C (p.Gln1679His) c.4881G>C (p.Gln1627His) c.279G>C n.412G>C c.423G>C (p.Gln141His) n.13G>C c.5223G>C (p.Gln1741His) c.1077G>C (p.Gln359His) c.480G>C (p.Gln160His) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13235662C>T | CA505658774 | CACNA1A | c.5019G>A (p.Gln1673=) c.5025G>A (p.Gln1675=) c.438G>A n.243G>A c.180G>A (p.Gln60=) n.224G>A c.5022G>A (p.Gln1674=) n.1008G>A c.334G>A c.5028G>A (p.Gln1676=) c.315G>A (p.Gln105=) c.5037G>A (p.Gln1679=) c.4881G>A (p.Gln1627=) c.279G>A n.412G>A c.423G>A (p.Gln141=) n.13G>A c.5223G>A (p.Gln1741=) c.1077G>A (p.Gln359=) c.480G>A (p.Gln160=) | |
19 | g.13235663T>A | CA404336767 | CACNA1A | c.5018A>T (p.Gln1673Leu) c.5024A>T (p.Gln1675Leu) c.437A>T n.242A>T c.179A>T (p.Gln60Leu) n.223A>T c.5021A>T (p.Gln1674Leu) n.1007A>T c.333A>T c.5027A>T (p.Gln1676Leu) c.314A>T (p.Gln105Leu) c.5036A>T (p.Gln1679Leu) c.4880A>T (p.Gln1627Leu) c.278A>T n.411A>T c.422A>T (p.Gln141Leu) n.12A>T c.5222A>T (p.Gln1741Leu) c.1076A>T (p.Gln359Leu) c.479A>T (p.Gln160Leu) | |
19 | g.13235663T>C | CA404336766 | CACNA1A | c.5018A>G (p.Gln1673Arg) c.5024A>G (p.Gln1675Arg) c.437A>G n.242A>G c.179A>G (p.Gln60Arg) n.223A>G c.5021A>G (p.Gln1674Arg) n.1007A>G c.333A>G c.5027A>G (p.Gln1676Arg) c.314A>G (p.Gln105Arg) c.5036A>G (p.Gln1679Arg) c.4880A>G (p.Gln1627Arg) c.278A>G n.411A>G c.422A>G (p.Gln141Arg) n.12A>G c.5222A>G (p.Gln1741Arg) c.1076A>G (p.Gln359Arg) c.479A>G (p.Gln160Arg) | ClinVar dbSNP |
19 | g.13235663T>G | CA404336763 | CACNA1A | c.5018A>C (p.Gln1673Pro) c.5024A>C (p.Gln1675Pro) c.437A>C n.242A>C c.179A>C (p.Gln60Pro) n.223A>C c.5021A>C (p.Gln1674Pro) n.1007A>C c.333A>C c.5027A>C (p.Gln1676Pro) c.314A>C (p.Gln105Pro) c.5036A>C (p.Gln1679Pro) c.4880A>C (p.Gln1627Pro) c.278A>C n.411A>C c.422A>C (p.Gln141Pro) n.12A>C c.5222A>C (p.Gln1741Pro) c.1076A>C (p.Gln359Pro) c.479A>C (p.Gln160Pro) | |
19 | g.13235663T= | CA2323795775 | CACNA1A | c.5018A= (p.Gln1673=) c.5024A= (p.Gln1675=) c.437A= n.242A= c.179A= (p.Gln60=) n.223A= c.5021A= (p.Gln1674=) n.1007A= c.333A= c.5027A= (p.Gln1676=) c.314A= (p.Gln105=) c.5036A= (p.Gln1679=) c.4880A= (p.Gln1627=) c.278A= n.411A= c.422A= (p.Gln141=) n.12A= c.5222A= (p.Gln1741=) c.1076A= (p.Gln359=) c.479A= (p.Gln160=) | |
19 | g.13235664G>A | CA404336771 | CACNA1A | c.5017C>T (p.Gln1673Ter) c.5023C>T (p.Gln1675Ter) c.436C>T n.241C>T c.178C>T (p.Gln60Ter) n.222C>T c.5020C>T (p.Gln1674Ter) n.1006C>T c.332C>T c.5026C>T (p.Gln1676Ter) c.313C>T (p.Gln105Ter) c.5035C>T (p.Gln1679Ter) c.4879C>T (p.Gln1627Ter) c.277C>T n.410C>T c.421C>T (p.Gln141Ter) n.11C>T c.5221C>T (p.Gln1741Ter) c.1075C>T (p.Gln359Ter) c.478C>T (p.Gln160Ter) | |
19 | g.13235664G>C | CA404336773 | CACNA1A | c.5017C>G (p.Gln1673Glu) c.5023C>G (p.Gln1675Glu) c.436C>G n.241C>G c.178C>G (p.Gln60Glu) n.222C>G c.5020C>G (p.Gln1674Glu) n.1006C>G c.332C>G c.5026C>G (p.Gln1676Glu) c.313C>G (p.Gln105Glu) c.5035C>G (p.Gln1679Glu) c.4879C>G (p.Gln1627Glu) c.277C>G n.410C>G c.421C>G (p.Gln141Glu) n.11C>G c.5221C>G (p.Gln1741Glu) c.1075C>G (p.Gln359Glu) c.478C>G (p.Gln160Glu) | |
19 | g.13235664G>T | CA404336775 | CACNA1A | c.5017C>A (p.Gln1673Lys) c.5023C>A (p.Gln1675Lys) c.436C>A n.241C>A c.178C>A (p.Gln60Lys) n.222C>A c.5020C>A (p.Gln1674Lys) n.1006C>A c.332C>A c.5026C>A (p.Gln1676Lys) c.313C>A (p.Gln105Lys) c.5035C>A (p.Gln1679Lys) c.4879C>A (p.Gln1627Lys) c.277C>A n.410C>A c.421C>A (p.Gln141Lys) n.11C>A c.5221C>A (p.Gln1741Lys) c.1075C>A (p.Gln359Lys) c.478C>A (p.Gln160Lys) | gnomAD v4 |
19 | g.13235665A>C | CA505658775 | CACNA1A | c.5016T>G (p.Arg1672=) c.5022T>G (p.Arg1674=) c.435T>G n.240T>G c.177T>G (p.Arg59=) n.221T>G c.5019T>G (p.Arg1673=) n.1005T>G c.331T>G c.5025T>G (p.Arg1675=) c.312T>G (p.Arg104=) c.5034T>G (p.Arg1678=) c.4878T>G (p.Arg1626=) c.276T>G n.409T>G c.420T>G (p.Arg140=) n.10T>G c.5220T>G (p.Arg1740=) c.1074T>G (p.Arg358=) c.477T>G (p.Arg159=) | |
19 | g.13235665A>G | CA505658776 | CACNA1A | c.5016T>C (p.Arg1672=) c.5022T>C (p.Arg1674=) c.435T>C n.240T>C c.177T>C (p.Arg59=) n.221T>C c.5019T>C (p.Arg1673=) n.1005T>C c.331T>C c.5025T>C (p.Arg1675=) c.312T>C (p.Arg104=) c.5034T>C (p.Arg1678=) c.4878T>C (p.Arg1626=) c.276T>C n.409T>C c.420T>C (p.Arg140=) n.10T>C c.5220T>C (p.Arg1740=) c.1074T>C (p.Arg358=) c.477T>C (p.Arg159=) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13235665A>T | CA505658777 | CACNA1A | c.5016T>A (p.Arg1672=) c.5022T>A (p.Arg1674=) c.435T>A n.240T>A c.177T>A (p.Arg59=) n.221T>A c.5019T>A (p.Arg1673=) n.1005T>A c.331T>A c.5025T>A (p.Arg1675=) c.312T>A (p.Arg104=) c.5034T>A (p.Arg1678=) c.4878T>A (p.Arg1626=) c.276T>A n.409T>A c.420T>A (p.Arg140=) n.10T>A c.5220T>A (p.Arg1740=) c.1074T>A (p.Arg358=) c.477T>A (p.Arg159=) | |
19 | g.13235666C>A | CA404336780 | CACNA1A | c.5015G>T (p.Arg1672Leu) c.5021G>T (p.Arg1674Leu) c.434G>T n.239G>T c.176G>T (p.Arg59Leu) n.220G>T c.5018G>T (p.Arg1673Leu) n.1004G>T c.330G>T c.5024G>T (p.Arg1675Leu) c.311G>T (p.Arg104Leu) c.5033G>T (p.Arg1678Leu) c.4877G>T (p.Arg1626Leu) c.275G>T n.408G>T c.419G>T (p.Arg140Leu) n.9G>T c.5219G>T (p.Arg1740Leu) c.1073G>T (p.Arg358Leu) c.476G>T (p.Arg159Leu) | |
19 | g.13235666C= | CA2323795776 | CACNA1A | c.5015G= (p.Arg1672=) c.5021G= (p.Arg1674=) c.434G= n.239G= c.176G= (p.Arg59=) n.220G= c.5018G= (p.Arg1673=) n.1004G= c.330G= c.5024G= (p.Arg1675=) c.311G= (p.Arg104=) c.5033G= (p.Arg1678=) c.4877G= (p.Arg1626=) c.275G= n.408G= c.419G= (p.Arg140=) n.9G= c.5219G= (p.Arg1740=) c.1073G= (p.Arg358=) c.476G= (p.Arg159=) | |
19 | g.13235666C>G | CA16044236 | CACNA1A | c.5015G>C (p.Arg1672Pro) c.5021G>C (p.Arg1674Pro) c.434G>C n.239G>C c.176G>C (p.Arg59Pro) n.220G>C c.5018G>C (p.Arg1673Pro) n.1004G>C c.330G>C c.5024G>C (p.Arg1675Pro) c.311G>C (p.Arg104Pro) c.5033G>C (p.Arg1678Pro) c.4877G>C (p.Arg1626Pro) c.275G>C n.408G>C c.419G>C (p.Arg140Pro) n.9G>C c.5219G>C (p.Arg1740Pro) c.1073G>C (p.Arg358Pro) c.476G>C (p.Arg159Pro) | ClinVar dbSNP |
19 | g.13235666C>T | CA404336785 | CACNA1A | c.5015G>A (p.Arg1672His) c.5021G>A (p.Arg1674His) c.434G>A n.239G>A c.176G>A (p.Arg59His) n.220G>A c.5018G>A (p.Arg1673His) n.1004G>A c.330G>A c.5024G>A (p.Arg1675His) c.311G>A (p.Arg104His) c.5033G>A (p.Arg1678His) c.4877G>A (p.Arg1626His) c.275G>A n.408G>A c.419G>A (p.Arg140His) n.9G>A c.5219G>A (p.Arg1740His) c.1073G>A (p.Arg358His) c.476G>A (p.Arg159His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13235666dup | CA2573156109 | CACNA1A | c.5015dup (p.Gln1673SerfsTer?) c.5021dup (p.Gln1675SerfsTer?) c.434dup n.239dup c.176dup (p.Gln60SerfsTer?) n.220dup c.5018dup (p.Gln1674SerfsTer?) n.1004dup c.330dup c.176dup (p.Gln60SerfsTer21) c.5024dup (p.Gln1676SerfsTer?) c.311dup (p.Gln105SerfsTer?) c.5033dup (p.Gln1679SerfsTer?) c.4877dup (p.Gln1627SerfsTer?) c.275dup n.408dup c.419dup (p.Gln141SerfsTer?) n.9dup c.5219dup (p.Gln1741SerfsTer?) c.1073dup (p.Gln359SerfsTer?) c.476dup (p.Gln160SerfsTer?) | ClinVar dbSNP |
19 | g.13235667G>A | CA244130 | CACNA1A | c.5014C>T (p.Arg1672Cys) c.5020C>T (p.Arg1674Cys) c.433C>T n.238C>T c.175C>T (p.Arg59Cys) n.219C>T c.5017C>T (p.Arg1673Cys) n.1003C>T c.329C>T c.5023C>T (p.Arg1675Cys) c.310C>T (p.Arg104Cys) c.5032C>T (p.Arg1678Cys) c.4876C>T (p.Arg1626Cys) c.274C>T n.407C>T c.418C>T (p.Arg140Cys) n.8C>T c.5218C>T (p.Arg1740Cys) c.1072C>T (p.Arg358Cys) c.475C>T (p.Arg159Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13235667G>C | CA404336796 | CACNA1A | c.5014C>G (p.Arg1672Gly) c.5020C>G (p.Arg1674Gly) c.433C>G n.238C>G c.175C>G (p.Arg59Gly) n.219C>G c.5017C>G (p.Arg1673Gly) n.1003C>G c.329C>G c.5023C>G (p.Arg1675Gly) c.310C>G (p.Arg104Gly) c.5032C>G (p.Arg1678Gly) c.4876C>G (p.Arg1626Gly) c.274C>G n.407C>G c.418C>G (p.Arg140Gly) n.8C>G c.5218C>G (p.Arg1740Gly) c.1072C>G (p.Arg358Gly) c.475C>G (p.Arg159Gly) | |
19 | g.13235667G= | CA2323795777 | CACNA1A | c.5014C= (p.Arg1672=) c.5020C= (p.Arg1674=) c.433C= n.238C= c.175C= (p.Arg59=) n.219C= c.5017C= (p.Arg1673=) n.1003C= c.329C= c.5023C= (p.Arg1675=) c.310C= (p.Arg104=) c.5032C= (p.Arg1678=) c.4876C= (p.Arg1626=) c.274C= n.407C= c.418C= (p.Arg140=) n.8C= c.5218C= (p.Arg1740=) c.1072C= (p.Arg358=) c.475C= (p.Arg159=) | |
19 | g.13235667G>T | CA404336798 | CACNA1A | c.5014C>A (p.Arg1672Ser) c.5020C>A (p.Arg1674Ser) c.433C>A n.238C>A c.175C>A (p.Arg59Ser) n.219C>A c.5017C>A (p.Arg1673Ser) n.1003C>A c.329C>A c.5023C>A (p.Arg1675Ser) c.310C>A (p.Arg104Ser) c.5032C>A (p.Arg1678Ser) c.4876C>A (p.Arg1626Ser) c.274C>A n.407C>A c.418C>A (p.Arg140Ser) n.8C>A c.5218C>A (p.Arg1740Ser) c.1072C>A (p.Arg358Ser) c.475C>A (p.Arg159Ser) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13235668G>A | CA505658779 | CACNA1A | c.5013C>T (p.Leu1671=) c.5019C>T (p.Leu1673=) c.432C>T n.237C>T c.174C>T (p.Leu58=) n.218C>T c.5016C>T (p.Leu1672=) n.1002C>T c.328C>T c.5022C>T (p.Leu1674=) c.309C>T (p.Leu103=) c.5031C>T (p.Leu1677=) c.4875C>T (p.Leu1625=) c.273C>T n.406C>T c.417C>T (p.Leu139=) n.7C>T c.5217C>T (p.Leu1739=) c.1071C>T (p.Leu357=) c.474C>T (p.Leu158=) | |
19 | g.13235668G>C | CA505658780 | CACNA1A | c.5013C>G (p.Leu1671=) c.5019C>G (p.Leu1673=) c.432C>G n.237C>G c.174C>G (p.Leu58=) n.218C>G c.5016C>G (p.Leu1672=) n.1002C>G c.328C>G c.5022C>G (p.Leu1674=) c.309C>G (p.Leu103=) c.5031C>G (p.Leu1677=) c.4875C>G (p.Leu1625=) c.273C>G n.406C>G c.417C>G (p.Leu139=) n.7C>G c.5217C>G (p.Leu1739=) c.1071C>G (p.Leu357=) c.474C>G (p.Leu158=) | |
19 | g.13235668G>T | CA505658781 | CACNA1A | c.5013C>A (p.Leu1671=) c.5019C>A (p.Leu1673=) c.432C>A n.237C>A c.174C>A (p.Leu58=) n.218C>A c.5016C>A (p.Leu1672=) n.1002C>A c.328C>A c.5022C>A (p.Leu1674=) c.309C>A (p.Leu103=) c.5031C>A (p.Leu1677=) c.4875C>A (p.Leu1625=) c.273C>A n.406C>A c.417C>A (p.Leu139=) n.7C>A c.5217C>A (p.Leu1739=) c.1071C>A (p.Leu357=) c.474C>A (p.Leu158=) | |
19 | g.13235669A>C | CA404336801 | CACNA1A | c.5012T>G (p.Leu1671Arg) c.5018T>G (p.Leu1673Arg) c.431T>G n.236T>G c.173T>G (p.Leu58Arg) n.217T>G c.5015T>G (p.Leu1672Arg) n.1001T>G c.327T>G c.5021T>G (p.Leu1674Arg) c.308T>G (p.Leu103Arg) c.5030T>G (p.Leu1677Arg) c.4874T>G (p.Leu1625Arg) c.272T>G n.405T>G c.416T>G (p.Leu139Arg) n.6T>G c.5216T>G (p.Leu1739Arg) c.1070T>G (p.Leu357Arg) c.473T>G (p.Leu158Arg) | |
19 | g.13235669A>G | CA404336804 | CACNA1A | c.5012T>C (p.Leu1671Pro) c.5018T>C (p.Leu1673Pro) c.431T>C n.236T>C c.173T>C (p.Leu58Pro) n.217T>C c.5015T>C (p.Leu1672Pro) n.1001T>C c.327T>C c.5021T>C (p.Leu1674Pro) c.308T>C (p.Leu103Pro) c.5030T>C (p.Leu1677Pro) c.4874T>C (p.Leu1625Pro) c.272T>C n.405T>C c.416T>C (p.Leu139Pro) n.6T>C c.5216T>C (p.Leu1739Pro) c.1070T>C (p.Leu357Pro) c.473T>C (p.Leu158Pro) | |
19 | g.13235669A>T | CA404336807 | CACNA1A | c.5012T>A (p.Leu1671His) c.5018T>A (p.Leu1673His) c.431T>A n.236T>A c.173T>A (p.Leu58His) n.217T>A c.5015T>A (p.Leu1672His) n.1001T>A c.327T>A c.5021T>A (p.Leu1674His) c.308T>A (p.Leu103His) c.5030T>A (p.Leu1677His) c.4874T>A (p.Leu1625His) c.272T>A n.405T>A c.416T>A (p.Leu139His) n.6T>A c.5216T>A (p.Leu1739His) c.1070T>A (p.Leu357His) c.473T>A (p.Leu158His) | |
19 | g.13235670G>A | CA404336813 | CACNA1A | c.5011C>T (p.Leu1671Phe) c.5017C>T (p.Leu1673Phe) c.430C>T n.235C>T c.172C>T (p.Leu58Phe) n.216C>T c.5014C>T (p.Leu1672Phe) n.1000C>T c.326C>T c.5020C>T (p.Leu1674Phe) c.307C>T (p.Leu103Phe) c.5029C>T (p.Leu1677Phe) c.4873C>T (p.Leu1625Phe) c.271C>T n.404C>T c.415C>T (p.Leu139Phe) n.5C>T c.5215C>T (p.Leu1739Phe) c.1069C>T (p.Leu357Phe) c.472C>T (p.Leu158Phe) | |
19 | g.13235670G>C | CA404336815 | CACNA1A | c.5011C>G (p.Leu1671Val) c.5017C>G (p.Leu1673Val) c.430C>G n.235C>G c.172C>G (p.Leu58Val) n.216C>G c.5014C>G (p.Leu1672Val) n.1000C>G c.326C>G c.5020C>G (p.Leu1674Val) c.307C>G (p.Leu103Val) c.5029C>G (p.Leu1677Val) c.4873C>G (p.Leu1625Val) c.271C>G n.404C>G c.415C>G (p.Leu139Val) n.5C>G c.5215C>G (p.Leu1739Val) c.1069C>G (p.Leu357Val) c.472C>G (p.Leu158Val) | |
19 | g.13235670G>T | CA404336810 | CACNA1A | c.5011C>A (p.Leu1671Ile) c.5017C>A (p.Leu1673Ile) c.430C>A n.235C>A c.172C>A (p.Leu58Ile) n.216C>A c.5014C>A (p.Leu1672Ile) n.1000C>A c.326C>A c.5020C>A (p.Leu1674Ile) c.307C>A (p.Leu103Ile) c.5029C>A (p.Leu1677Ile) c.4873C>A (p.Leu1625Ile) c.271C>A n.404C>A c.415C>A (p.Leu139Ile) n.5C>A c.5215C>A (p.Leu1739Ile) c.1069C>A (p.Leu357Ile) c.472C>A (p.Leu158Ile) | |
19 | g.13235671A>C | CA505658782 | CACNA1A | c.5010T>G (p.Leu1670=) c.5016T>G (p.Leu1672=) c.429T>G n.234T>G c.171T>G (p.Leu57=) n.215T>G c.5013T>G (p.Leu1671=) n.999T>G c.325T>G c.5019T>G (p.Leu1673=) c.306T>G (p.Leu102=) c.5028T>G (p.Leu1676=) c.4872T>G (p.Leu1624=) c.270T>G n.403T>G c.414T>G (p.Leu138=) n.4T>G c.5214T>G (p.Leu1738=) c.1068T>G (p.Leu356=) c.471T>G (p.Leu157=) | |
19 | g.13235671A>G | CA505658783 | CACNA1A | c.5010T>C (p.Leu1670=) c.5016T>C (p.Leu1672=) c.429T>C n.234T>C c.171T>C (p.Leu57=) n.215T>C c.5013T>C (p.Leu1671=) n.999T>C c.325T>C c.5019T>C (p.Leu1673=) c.306T>C (p.Leu102=) c.5028T>C (p.Leu1676=) c.4872T>C (p.Leu1624=) c.270T>C n.403T>C c.414T>C (p.Leu138=) n.4T>C c.5214T>C (p.Leu1738=) c.1068T>C (p.Leu356=) c.471T>C (p.Leu157=) | |
19 | g.13235671A>T | CA505658784 | CACNA1A | c.5010T>A (p.Leu1670=) c.5016T>A (p.Leu1672=) c.429T>A n.234T>A c.171T>A (p.Leu57=) n.215T>A c.5013T>A (p.Leu1671=) n.999T>A c.325T>A c.5019T>A (p.Leu1673=) c.306T>A (p.Leu102=) c.5028T>A (p.Leu1676=) c.4872T>A (p.Leu1624=) c.270T>A n.403T>A c.414T>A (p.Leu138=) n.4T>A c.5214T>A (p.Leu1738=) c.1068T>A (p.Leu356=) c.471T>A (p.Leu157=) | gnomAD v4 |
19 | g.13235672A>C | CA404336816 | CACNA1A | c.5009T>G (p.Leu1670Arg) c.5015T>G (p.Leu1672Arg) c.428T>G n.233T>G c.170T>G (p.Leu57Arg) n.214T>G c.5012T>G (p.Leu1671Arg) n.998T>G c.324T>G c.5018T>G (p.Leu1673Arg) c.305T>G (p.Leu102Arg) c.5027T>G (p.Leu1676Arg) c.4871T>G (p.Leu1624Arg) c.269T>G n.402T>G c.413T>G (p.Leu138Arg) n.3T>G c.5213T>G (p.Leu1738Arg) c.1067T>G (p.Leu356Arg) c.470T>G (p.Leu157Arg) | ClinVar |
19 | g.13235672A>G | CA404336819 | CACNA1A | c.5009T>C (p.Leu1670Pro) c.5015T>C (p.Leu1672Pro) c.428T>C n.233T>C c.170T>C (p.Leu57Pro) n.214T>C c.5012T>C (p.Leu1671Pro) n.998T>C c.324T>C c.5018T>C (p.Leu1673Pro) c.305T>C (p.Leu102Pro) c.5027T>C (p.Leu1676Pro) c.4871T>C (p.Leu1624Pro) c.269T>C n.402T>C c.413T>C (p.Leu138Pro) n.3T>C c.5213T>C (p.Leu1738Pro) c.1067T>C (p.Leu356Pro) c.470T>C (p.Leu157Pro) | |
19 | g.13235672A>T | CA404336822 | CACNA1A | c.5009T>A (p.Leu1670His) c.5015T>A (p.Leu1672His) c.428T>A n.233T>A c.170T>A (p.Leu57His) n.214T>A c.5012T>A (p.Leu1671His) n.998T>A c.324T>A c.5018T>A (p.Leu1673His) c.305T>A (p.Leu102His) c.5027T>A (p.Leu1676His) c.4871T>A (p.Leu1624His) c.269T>A n.402T>A c.413T>A (p.Leu138His) n.3T>A c.5213T>A (p.Leu1738His) c.1067T>A (p.Leu356His) c.470T>A (p.Leu157His) | |
19 | g.13235673G>A | CA404336824 | CACNA1A | c.5008C>T (p.Leu1670Phe) c.5014C>T (p.Leu1672Phe) c.427C>T n.232C>T c.169C>T (p.Leu57Phe) n.213C>T c.5011C>T (p.Leu1671Phe) n.997C>T c.323C>T c.5017C>T (p.Leu1673Phe) c.304C>T (p.Leu102Phe) c.5026C>T (p.Leu1676Phe) c.4870C>T (p.Leu1624Phe) c.268C>T n.401C>T c.412C>T (p.Leu138Phe) n.2C>T c.5212C>T (p.Leu1738Phe) c.1066C>T (p.Leu356Phe) c.469C>T (p.Leu157Phe) | |
19 | g.13235673G>C | CA404336825 | CACNA1A | c.5008C>G (p.Leu1670Val) c.5014C>G (p.Leu1672Val) c.427C>G n.232C>G c.169C>G (p.Leu57Val) n.213C>G c.5011C>G (p.Leu1671Val) n.997C>G c.323C>G c.5017C>G (p.Leu1673Val) c.304C>G (p.Leu102Val) c.5026C>G (p.Leu1676Val) c.4870C>G (p.Leu1624Val) c.268C>G n.401C>G c.412C>G (p.Leu138Val) n.2C>G c.5212C>G (p.Leu1738Val) c.1066C>G (p.Leu356Val) c.469C>G (p.Leu157Val) | |
19 | g.13235673G= | CA2323795778 | CACNA1A | c.5008C= (p.Leu1670=) c.5014C= (p.Leu1672=) c.427C= n.232C= c.169C= (p.Leu57=) n.213C= c.5011C= (p.Leu1671=) n.997C= c.323C= c.5017C= (p.Leu1673=) c.304C= (p.Leu102=) c.5026C= (p.Leu1676=) c.4870C= (p.Leu1624=) c.268C= n.401C= c.412C= (p.Leu138=) n.2C= c.5212C= (p.Leu1738=) c.1066C= (p.Leu356=) c.469C= (p.Leu157=) | |
19 | g.13235673G>T | CA404336829 | CACNA1A | c.5008C>A (p.Leu1670Ile) c.5014C>A (p.Leu1672Ile) c.427C>A n.232C>A c.169C>A (p.Leu57Ile) n.213C>A c.5011C>A (p.Leu1671Ile) n.997C>A c.323C>A c.5017C>A (p.Leu1673Ile) c.304C>A (p.Leu102Ile) c.5026C>A (p.Leu1676Ile) c.4870C>A (p.Leu1624Ile) c.268C>A n.401C>A c.412C>A (p.Leu138Ile) n.2C>A c.5212C>A (p.Leu1738Ile) c.1066C>A (p.Leu356Ile) c.469C>A (p.Leu157Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13235674T>A | CA404336837 | CACNA1A | c.5007A>T (p.Lys1669Asn) c.5013A>T (p.Lys1671Asn) c.426A>T n.231A>T c.168A>T (p.Lys56Asn) n.212A>T c.5010A>T (p.Lys1670Asn) n.996A>T c.322A>T c.5016A>T (p.Lys1672Asn) c.303A>T (p.Lys101Asn) c.5025A>T (p.Lys1675Asn) c.4869A>T (p.Lys1623Asn) c.267A>T n.400A>T c.411A>T (p.Lys137Asn) n.1A>T c.5211A>T (p.Lys1737Asn) c.1065A>T (p.Lys355Asn) c.468A>T (p.Lys156Asn) | |
19 | g.13235674T>C | CA505658785 | CACNA1A | c.5007A>G (p.Lys1669=) c.5013A>G (p.Lys1671=) c.426A>G n.231A>G c.168A>G (p.Lys56=) n.212A>G c.5010A>G (p.Lys1670=) n.996A>G c.322A>G c.5016A>G (p.Lys1672=) c.303A>G (p.Lys101=) c.5025A>G (p.Lys1675=) c.4869A>G (p.Lys1623=) c.267A>G n.400A>G c.411A>G (p.Lys137=) n.1A>G c.5211A>G (p.Lys1737=) c.1065A>G (p.Lys355=) c.468A>G (p.Lys156=) | |
19 | g.13235674T>G | CA404336832 | CACNA1A | c.5007A>C (p.Lys1669Asn) c.5013A>C (p.Lys1671Asn) c.426A>C n.231A>C c.168A>C (p.Lys56Asn) n.212A>C c.5010A>C (p.Lys1670Asn) n.996A>C c.322A>C c.5016A>C (p.Lys1672Asn) c.303A>C (p.Lys101Asn) c.5025A>C (p.Lys1675Asn) c.4869A>C (p.Lys1623Asn) c.267A>C n.400A>C c.411A>C (p.Lys137Asn) n.1A>C c.5211A>C (p.Lys1737Asn) c.1065A>C (p.Lys355Asn) c.468A>C (p.Lys156Asn) | |
19 | g.13235675T>A | CA404336842 | CACNA1A | c.5006A>T (p.Lys1669Ile) c.5012A>T (p.Lys1671Ile) c.425A>T n.230A>T c.167A>T (p.Lys56Ile) n.211A>T c.5009A>T (p.Lys1670Ile) n.995A>T c.321A>T c.5015A>T (p.Lys1672Ile) c.302A>T (p.Lys101Ile) c.5024A>T (p.Lys1675Ile) c.4868A>T (p.Lys1623Ile) c.266A>T n.399A>T c.410A>T (p.Lys137Ile) c.5210A>T (p.Lys1737Ile) c.1064A>T (p.Lys355Ile) c.467A>T (p.Lys156Ile) | |
19 | g.13235675T>C | CA404336845 | CACNA1A | c.5006A>G (p.Lys1669Arg) c.5012A>G (p.Lys1671Arg) c.425A>G n.230A>G c.167A>G (p.Lys56Arg) n.211A>G c.5009A>G (p.Lys1670Arg) n.995A>G c.321A>G c.5015A>G (p.Lys1672Arg) c.302A>G (p.Lys101Arg) c.5024A>G (p.Lys1675Arg) c.4868A>G (p.Lys1623Arg) c.266A>G n.399A>G c.410A>G (p.Lys137Arg) c.5210A>G (p.Lys1737Arg) c.1064A>G (p.Lys355Arg) c.467A>G (p.Lys156Arg) | |
19 | g.13235675T>G | CA404336848 | CACNA1A | c.5006A>C (p.Lys1669Thr) c.5012A>C (p.Lys1671Thr) c.425A>C n.230A>C c.167A>C (p.Lys56Thr) n.211A>C c.5009A>C (p.Lys1670Thr) n.995A>C c.321A>C c.5015A>C (p.Lys1672Thr) c.302A>C (p.Lys101Thr) c.5024A>C (p.Lys1675Thr) c.4868A>C (p.Lys1623Thr) c.266A>C n.399A>C c.410A>C (p.Lys137Thr) c.5210A>C (p.Lys1737Thr) c.1064A>C (p.Lys355Thr) c.467A>C (p.Lys156Thr) | |
19 | g.13235676T>A | CA404336853 | CACNA1A | c.5005A>T (p.Lys1669Ter) c.5011A>T (p.Lys1671Ter) c.424A>T n.229A>T c.166A>T (p.Lys56Ter) n.210A>T c.5008A>T (p.Lys1670Ter) n.994A>T c.320A>T c.5014A>T (p.Lys1672Ter) c.301A>T (p.Lys101Ter) c.5023A>T (p.Lys1675Ter) c.4867A>T (p.Lys1623Ter) c.265A>T n.398A>T c.409A>T (p.Lys137Ter) c.5209A>T (p.Lys1737Ter) c.1063A>T (p.Lys355Ter) c.466A>T (p.Lys156Ter) | |
19 | g.13235676T>C | CA404336858 | CACNA1A | c.5005A>G (p.Lys1669Glu) c.5011A>G (p.Lys1671Glu) c.424A>G n.229A>G c.166A>G (p.Lys56Glu) n.210A>G c.5008A>G (p.Lys1670Glu) n.994A>G c.320A>G c.5014A>G (p.Lys1672Glu) c.301A>G (p.Lys101Glu) c.5023A>G (p.Lys1675Glu) c.4867A>G (p.Lys1623Glu) c.265A>G n.398A>G c.409A>G (p.Lys137Glu) c.5209A>G (p.Lys1737Glu) c.1063A>G (p.Lys355Glu) c.466A>G (p.Lys156Glu) | |
19 | g.13235676T>G | CA404336860 | CACNA1A | c.5005A>C (p.Lys1669Gln) c.5011A>C (p.Lys1671Gln) c.424A>C n.229A>C c.166A>C (p.Lys56Gln) n.210A>C c.5008A>C (p.Lys1670Gln) n.994A>C c.320A>C c.5014A>C (p.Lys1672Gln) c.301A>C (p.Lys101Gln) c.5023A>C (p.Lys1675Gln) c.4867A>C (p.Lys1623Gln) c.265A>C n.398A>C c.409A>C (p.Lys137Gln) c.5209A>C (p.Lys1737Gln) c.1063A>C (p.Lys355Gln) c.466A>C (p.Lys156Gln) | |
19 | g.13235677G>A | CA505658786 | CACNA1A | c.5004C>T (p.Ile1668=) c.5010C>T (p.Ile1670=) c.423C>T n.228C>T c.165C>T (p.Ile55=) n.209C>T c.5007C>T (p.Ile1669=) n.993C>T c.319C>T c.5013C>T (p.Ile1671=) c.300C>T (p.Ile100=) c.5022C>T (p.Ile1674=) c.4866C>T (p.Ile1622=) c.264C>T n.397C>T c.408C>T (p.Ile136=) c.5208C>T (p.Ile1736=) c.1062C>T (p.Ile354=) c.465C>T (p.Ile155=) | |
19 | g.13235677G>C | CA404336864 | CACNA1A | c.5004C>G (p.Ile1668Met) c.5010C>G (p.Ile1670Met) c.423C>G n.228C>G c.165C>G (p.Ile55Met) n.209C>G c.5007C>G (p.Ile1669Met) n.993C>G c.319C>G c.5013C>G (p.Ile1671Met) c.300C>G (p.Ile100Met) c.5022C>G (p.Ile1674Met) c.4866C>G (p.Ile1622Met) c.264C>G n.397C>G c.408C>G (p.Ile136Met) c.5208C>G (p.Ile1736Met) c.1062C>G (p.Ile354Met) c.465C>G (p.Ile155Met) | |
19 | g.13235677G>T | CA505658787 | CACNA1A | c.5004C>A (p.Ile1668=) c.5010C>A (p.Ile1670=) c.423C>A n.228C>A c.165C>A (p.Ile55=) n.209C>A c.5007C>A (p.Ile1669=) n.993C>A c.319C>A c.5013C>A (p.Ile1671=) c.300C>A (p.Ile100=) c.5022C>A (p.Ile1674=) c.4866C>A (p.Ile1622=) c.264C>A n.397C>A c.408C>A (p.Ile136=) c.5208C>A (p.Ile1736=) c.1062C>A (p.Ile354=) c.465C>A (p.Ile155=) | |
19 | g.13235678A>C | CA404336868 | CACNA1A | c.5003T>G (p.Ile1668Ser) c.5009T>G (p.Ile1670Ser) c.422T>G n.227T>G c.164T>G (p.Ile55Ser) n.208T>G c.5006T>G (p.Ile1669Ser) n.992T>G c.318T>G c.5012T>G (p.Ile1671Ser) c.299T>G (p.Ile100Ser) c.5021T>G (p.Ile1674Ser) c.4865T>G (p.Ile1622Ser) c.263T>G n.396T>G c.407T>G (p.Ile136Ser) c.5207T>G (p.Ile1736Ser) c.1061T>G (p.Ile354Ser) c.464T>G (p.Ile155Ser) | |
19 | g.13235678A>G | CA404336875 | CACNA1A | c.5003T>C (p.Ile1668Thr) c.5009T>C (p.Ile1670Thr) c.422T>C n.227T>C c.164T>C (p.Ile55Thr) n.208T>C c.5006T>C (p.Ile1669Thr) n.992T>C c.318T>C c.5012T>C (p.Ile1671Thr) c.299T>C (p.Ile100Thr) c.5021T>C (p.Ile1674Thr) c.4865T>C (p.Ile1622Thr) c.263T>C n.396T>C c.407T>C (p.Ile136Thr) c.5207T>C (p.Ile1736Thr) c.1061T>C (p.Ile354Thr) c.464T>C (p.Ile155Thr) | |
19 | g.13235678A>T | CA404336870 | CACNA1A | c.5003T>A (p.Ile1668Asn) c.5009T>A (p.Ile1670Asn) c.422T>A n.227T>A c.164T>A (p.Ile55Asn) n.208T>A c.5006T>A (p.Ile1669Asn) n.992T>A c.318T>A c.5012T>A (p.Ile1671Asn) c.299T>A (p.Ile100Asn) c.5021T>A (p.Ile1674Asn) c.4865T>A (p.Ile1622Asn) c.263T>A n.396T>A c.407T>A (p.Ile136Asn) c.5207T>A (p.Ile1736Asn) c.1061T>A (p.Ile354Asn) c.464T>A (p.Ile155Asn) | |
19 | g.13235679T>A | CA404336877 | CACNA1A | c.5002A>T (p.Ile1668Phe) c.5008A>T (p.Ile1670Phe) c.421A>T n.226A>T c.163A>T (p.Ile55Phe) n.207A>T c.5005A>T (p.Ile1669Phe) n.991A>T c.317A>T c.5011A>T (p.Ile1671Phe) c.298A>T (p.Ile100Phe) c.5020A>T (p.Ile1674Phe) c.4864A>T (p.Ile1622Phe) c.262A>T n.395A>T c.406A>T (p.Ile136Phe) c.5206A>T (p.Ile1736Phe) c.1060A>T (p.Ile354Phe) c.463A>T (p.Ile155Phe) | |
19 | g.13235679T>C | CA9239856 | CACNA1A | c.5002A>G (p.Ile1668Val) c.5008A>G (p.Ile1670Val) c.421A>G n.226A>G c.163A>G (p.Ile55Val) n.207A>G c.5005A>G (p.Ile1669Val) n.991A>G c.317A>G c.5011A>G (p.Ile1671Val) c.298A>G (p.Ile100Val) c.5020A>G (p.Ile1674Val) c.4864A>G (p.Ile1622Val) c.262A>G n.395A>G c.406A>G (p.Ile136Val) c.5206A>G (p.Ile1736Val) c.1060A>G (p.Ile354Val) c.463A>G (p.Ile155Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13235679T>G | CA404336881 | CACNA1A | c.5002A>C (p.Ile1668Leu) c.5008A>C (p.Ile1670Leu) c.421A>C n.226A>C c.163A>C (p.Ile55Leu) n.207A>C c.5005A>C (p.Ile1669Leu) n.991A>C c.317A>C c.5011A>C (p.Ile1671Leu) c.298A>C (p.Ile100Leu) c.5020A>C (p.Ile1674Leu) c.4864A>C (p.Ile1622Leu) c.262A>C n.395A>C c.406A>C (p.Ile136Leu) c.5206A>C (p.Ile1736Leu) c.1060A>C (p.Ile354Leu) c.463A>C (p.Ile155Leu) | |
19 | g.13235679T= | CA2323795779 | CACNA1A | c.5002A= (p.Ile1668=) c.5008A= (p.Ile1670=) c.421A= n.226A= c.163A= (p.Ile55=) n.207A= c.5005A= (p.Ile1669=) n.991A= c.317A= c.5011A= (p.Ile1671=) c.298A= (p.Ile100=) c.5020A= (p.Ile1674=) c.4864A= (p.Ile1622=) c.262A= n.395A= c.406A= (p.Ile136=) c.5206A= (p.Ile1736=) c.1060A= (p.Ile354=) c.463A= (p.Ile155=) | |
19 | g.13235680G>A | CA9239857 | CACNA1A | c.5001C>T (p.Leu1667=) c.5007C>T (p.Leu1669=) c.420C>T n.225C>T c.162C>T (p.Leu54=) n.206C>T c.5004C>T (p.Leu1668=) n.990C>T c.316C>T c.5010C>T (p.Leu1670=) c.297C>T (p.Leu99=) c.5019C>T (p.Leu1673=) c.4863C>T (p.Leu1621=) c.261C>T n.394C>T c.405C>T (p.Leu135=) c.5205C>T (p.Leu1735=) c.1059C>T (p.Leu353=) c.462C>T (p.Leu154=) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.13235680G>C | CA505658788 | CACNA1A | c.5001C>G (p.Leu1667=) c.5007C>G (p.Leu1669=) c.420C>G n.225C>G c.162C>G (p.Leu54=) n.206C>G c.5004C>G (p.Leu1668=) n.990C>G c.316C>G c.5010C>G (p.Leu1670=) c.297C>G (p.Leu99=) c.5019C>G (p.Leu1673=) c.4863C>G (p.Leu1621=) c.261C>G n.394C>G c.405C>G (p.Leu135=) c.5205C>G (p.Leu1735=) c.1059C>G (p.Leu353=) c.462C>G (p.Leu154=) | |
19 | g.13235680G= | CA2323795780 | CACNA1A | c.5001C= (p.Leu1667=) c.5007C= (p.Leu1669=) c.420C= n.225C= c.162C= (p.Leu54=) n.206C= c.5004C= (p.Leu1668=) n.990C= c.316C= c.5010C= (p.Leu1670=) c.297C= (p.Leu99=) c.5019C= (p.Leu1673=) c.4863C= (p.Leu1621=) c.261C= n.394C= c.405C= (p.Leu135=) c.5205C= (p.Leu1735=) c.1059C= (p.Leu353=) c.462C= (p.Leu154=) | |
19 | g.13235680G>T | CA505658790 | CACNA1A | c.5001C>A (p.Leu1667=) c.5007C>A (p.Leu1669=) c.420C>A n.225C>A c.162C>A (p.Leu54=) n.206C>A c.5004C>A (p.Leu1668=) n.990C>A c.316C>A c.5010C>A (p.Leu1670=) c.297C>A (p.Leu99=) c.5019C>A (p.Leu1673=) c.4863C>A (p.Leu1621=) c.261C>A n.394C>A c.405C>A (p.Leu135=) c.5205C>A (p.Leu1735=) c.1059C>A (p.Leu353=) c.462C>A (p.Leu154=) | |
19 | g.13235681del | CA2825002748 | CACNA1A | c.5000del (p.Leu1667ProfsTer?) c.5006del (p.Leu1669ProfsTer?) c.419del n.224del c.161del (p.Leu54ProfsTer?) n.205del c.5003del (p.Leu1668ProfsTer?) n.989del c.315del c.5009del (p.Leu1670ProfsTer?) c.296del (p.Leu99ProfsTer?) c.5018del (p.Leu1673ProfsTer?) c.4862del (p.Leu1621ProfsTer?) c.260del n.393del c.404del (p.Leu135ProfsTer?) c.5204del (p.Leu1735ProfsTer?) c.1058del (p.Leu353ProfsTer?) c.461del (p.Leu154ProfsTer?) | ClinVar |
19 | g.13235681A>C | CA404336888 | CACNA1A | c.5000T>G (p.Leu1667Arg) c.5006T>G (p.Leu1669Arg) c.419T>G n.224T>G c.161T>G (p.Leu54Arg) n.205T>G c.5003T>G (p.Leu1668Arg) n.989T>G c.315T>G c.5009T>G (p.Leu1670Arg) c.296T>G (p.Leu99Arg) c.5018T>G (p.Leu1673Arg) c.4862T>G (p.Leu1621Arg) c.260T>G n.393T>G c.404T>G (p.Leu135Arg) c.5204T>G (p.Leu1735Arg) c.1058T>G (p.Leu353Arg) c.461T>G (p.Leu154Arg) | |
19 | g.13235681A>G | CA404336890 | CACNA1A | c.5000T>C (p.Leu1667Pro) c.5006T>C (p.Leu1669Pro) c.419T>C n.224T>C c.161T>C (p.Leu54Pro) n.205T>C c.5003T>C (p.Leu1668Pro) n.989T>C c.315T>C c.5009T>C (p.Leu1670Pro) c.296T>C (p.Leu99Pro) c.5018T>C (p.Leu1673Pro) c.4862T>C (p.Leu1621Pro) c.260T>C n.393T>C c.404T>C (p.Leu135Pro) c.5204T>C (p.Leu1735Pro) c.1058T>C (p.Leu353Pro) c.461T>C (p.Leu154Pro) | |
19 | g.13235681A>T | CA404336893 | CACNA1A | c.5000T>A (p.Leu1667His) c.5006T>A (p.Leu1669His) c.419T>A n.224T>A c.161T>A (p.Leu54His) n.205T>A c.5003T>A (p.Leu1668His) n.989T>A c.315T>A c.5009T>A (p.Leu1670His) c.296T>A (p.Leu99His) c.5018T>A (p.Leu1673His) c.4862T>A (p.Leu1621His) c.260T>A n.393T>A c.404T>A (p.Leu135His) c.5204T>A (p.Leu1735His) c.1058T>A (p.Leu353His) c.461T>A (p.Leu154His) | |
19 | g.13235682G>A | CA404336896 | CACNA1A | c.4999C>T (p.Leu1667Phe) c.5005C>T (p.Leu1669Phe) c.418C>T n.223C>T c.160C>T (p.Leu54Phe) n.204C>T c.5002C>T (p.Leu1668Phe) n.988C>T c.314C>T c.5008C>T (p.Leu1670Phe) c.295C>T (p.Leu99Phe) c.5017C>T (p.Leu1673Phe) c.4861C>T (p.Leu1621Phe) c.259C>T n.392C>T c.403C>T (p.Leu135Phe) c.5203C>T (p.Leu1735Phe) c.1057C>T (p.Leu353Phe) c.460C>T (p.Leu154Phe) | ClinVar dbSNP |
19 | g.13235682G>C | CA404336898 | CACNA1A | c.4999C>G (p.Leu1667Val) c.5005C>G (p.Leu1669Val) c.418C>G n.223C>G c.160C>G (p.Leu54Val) n.204C>G c.5002C>G (p.Leu1668Val) n.988C>G c.314C>G c.5008C>G (p.Leu1670Val) c.295C>G (p.Leu99Val) c.5017C>G (p.Leu1673Val) c.4861C>G (p.Leu1621Val) c.259C>G n.392C>G c.403C>G (p.Leu135Val) c.5203C>G (p.Leu1735Val) c.1057C>G (p.Leu353Val) c.460C>G (p.Leu154Val) | |
19 | g.13235682G>T | CA404336901 | CACNA1A | c.4999C>A (p.Leu1667Ile) c.5005C>A (p.Leu1669Ile) c.418C>A n.223C>A c.160C>A (p.Leu54Ile) n.204C>A c.5002C>A (p.Leu1668Ile) n.988C>A c.314C>A c.5008C>A (p.Leu1670Ile) c.295C>A (p.Leu99Ile) c.5017C>A (p.Leu1673Ile) c.4861C>A (p.Leu1621Ile) c.259C>A n.392C>A c.403C>A (p.Leu135Ile) c.5203C>A (p.Leu1735Ile) c.1057C>A (p.Leu353Ile) c.460C>A (p.Leu154Ile) | |
19 | g.13235683C>A | CA505658793 | CACNA1A | c.4998G>T (p.Arg1666=) c.5004G>T (p.Arg1668=) c.417G>T n.222G>T c.159G>T (p.Arg53=) n.203G>T c.5001G>T (p.Arg1667=) n.987G>T c.313G>T c.5007G>T (p.Arg1669=) c.294G>T (p.Arg98=) c.5016G>T (p.Arg1672=) c.4860G>T (p.Arg1620=) c.258G>T n.391G>T c.402G>T (p.Arg134=) c.5202G>T (p.Arg1734=) c.1056G>T (p.Arg352=) c.459G>T (p.Arg153=) | ClinVar |
19 | g.13235683C>G | CA505658792 | CACNA1A | c.4998G>C (p.Arg1666=) c.5004G>C (p.Arg1668=) c.417G>C n.222G>C c.159G>C (p.Arg53=) n.203G>C c.5001G>C (p.Arg1667=) n.987G>C c.313G>C c.5007G>C (p.Arg1669=) c.294G>C (p.Arg98=) c.5016G>C (p.Arg1672=) c.4860G>C (p.Arg1620=) c.258G>C n.391G>C c.402G>C (p.Arg134=) c.5202G>C (p.Arg1734=) c.1056G>C (p.Arg352=) c.459G>C (p.Arg153=) | |
19 | g.13235683C>T | CA505658791 | CACNA1A | c.4998G>A (p.Arg1666=) c.5004G>A (p.Arg1668=) c.417G>A n.222G>A c.159G>A (p.Arg53=) n.203G>A c.5001G>A (p.Arg1667=) n.987G>A c.313G>A c.5007G>A (p.Arg1669=) c.294G>A (p.Arg98=) c.5016G>A (p.Arg1672=) c.4860G>A (p.Arg1620=) c.258G>A n.391G>A c.402G>A (p.Arg134=) c.5202G>A (p.Arg1734=) c.1056G>A (p.Arg352=) c.459G>A (p.Arg153=) | gnomAD v4 |
19 | g.13235684C>A | CA404336902 | CACNA1A | c.4997G>T (p.Arg1666Leu) c.5003G>T (p.Arg1668Leu) c.416G>T n.221G>T c.158G>T (p.Arg53Leu) n.202G>T c.5000G>T (p.Arg1667Leu) n.986G>T c.312G>T c.5006G>T (p.Arg1669Leu) c.293G>T (p.Arg98Leu) c.5015G>T (p.Arg1672Leu) c.4859G>T (p.Arg1620Leu) c.257G>T n.390G>T c.401G>T (p.Arg134Leu) c.5201G>T (p.Arg1734Leu) c.1055G>T (p.Arg352Leu) c.458G>T (p.Arg153Leu) | |
19 | g.13235684C= | CA2323795781 | CACNA1A | c.4997G= (p.Arg1666=) c.5003G= (p.Arg1668=) c.416G= n.221G= c.158G= (p.Arg53=) n.202G= c.5000G= (p.Arg1667=) n.986G= c.312G= c.5006G= (p.Arg1669=) c.293G= (p.Arg98=) c.5015G= (p.Arg1672=) c.4859G= (p.Arg1620=) c.257G= n.390G= c.401G= (p.Arg134=) c.5201G= (p.Arg1734=) c.1055G= (p.Arg352=) c.458G= (p.Arg153=) | |
19 | g.13235684C>G | CA404336903 | CACNA1A | c.4997G>C (p.Arg1666Pro) c.5003G>C (p.Arg1668Pro) c.416G>C n.221G>C c.158G>C (p.Arg53Pro) n.202G>C c.5000G>C (p.Arg1667Pro) n.986G>C c.312G>C c.5006G>C (p.Arg1669Pro) c.293G>C (p.Arg98Pro) c.5015G>C (p.Arg1672Pro) c.4859G>C (p.Arg1620Pro) c.257G>C n.390G>C c.401G>C (p.Arg134Pro) c.5201G>C (p.Arg1734Pro) c.1055G>C (p.Arg352Pro) c.458G>C (p.Arg153Pro) | ClinVar dbSNP |
19 | g.13235684C>T | CA404336905 | CACNA1A | c.4997G>A (p.Arg1666Gln) c.5003G>A (p.Arg1668Gln) c.416G>A n.221G>A c.158G>A (p.Arg53Gln) n.202G>A c.5000G>A (p.Arg1667Gln) n.986G>A c.312G>A c.5006G>A (p.Arg1669Gln) c.293G>A (p.Arg98Gln) c.5015G>A (p.Arg1672Gln) c.4859G>A (p.Arg1620Gln) c.257G>A n.390G>A c.401G>A (p.Arg134Gln) c.5201G>A (p.Arg1734Gln) c.1055G>A (p.Arg352Gln) c.458G>A (p.Arg153Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC |
19 | g.13235685G>A | CA266053 | CACNA1A | c.4996C>T (p.Arg1666Trp) c.5002C>T (p.Arg1668Trp) c.415C>T n.220C>T c.157C>T (p.Arg53Trp) n.201C>T c.4999C>T (p.Arg1667Trp) n.985C>T c.311C>T c.5005C>T (p.Arg1669Trp) c.292C>T (p.Arg98Trp) c.5014C>T (p.Arg1672Trp) c.4858C>T (p.Arg1620Trp) c.256C>T n.389C>T c.400C>T (p.Arg134Trp) c.5200C>T (p.Arg1734Trp) c.1054C>T (p.Arg352Trp) c.457C>T (p.Arg153Trp) | ClinVar dbSNP gnomAD v4 |
19 | g.13235685G>C | CA404336907 | CACNA1A | c.4996C>G (p.Arg1666Gly) c.5002C>G (p.Arg1668Gly) c.415C>G n.220C>G c.157C>G (p.Arg53Gly) n.201C>G c.4999C>G (p.Arg1667Gly) n.985C>G c.311C>G c.5005C>G (p.Arg1669Gly) c.292C>G (p.Arg98Gly) c.5014C>G (p.Arg1672Gly) c.4858C>G (p.Arg1620Gly) c.256C>G n.389C>G c.400C>G (p.Arg134Gly) c.5200C>G (p.Arg1734Gly) c.1054C>G (p.Arg352Gly) c.457C>G (p.Arg153Gly) | |
19 | g.13235685G= | CA2323795782 | CACNA1A | c.4996C= (p.Arg1666=) c.5002C= (p.Arg1668=) c.415C= n.220C= c.157C= (p.Arg53=) n.201C= c.4999C= (p.Arg1667=) n.985C= c.311C= c.5005C= (p.Arg1669=) c.292C= (p.Arg98=) c.5014C= (p.Arg1672=) c.4858C= (p.Arg1620=) c.256C= n.389C= c.400C= (p.Arg134=) c.5200C= (p.Arg1734=) c.1054C= (p.Arg352=) c.457C= (p.Arg153=) | |
19 | g.13235685G>T | CA505658794 | CACNA1A | c.4996C>A (p.Arg1666=) c.5002C>A (p.Arg1668=) c.415C>A n.220C>A c.157C>A (p.Arg53=) n.201C>A c.4999C>A (p.Arg1667=) n.985C>A c.311C>A c.5005C>A (p.Arg1669=) c.292C>A (p.Arg98=) c.5014C>A (p.Arg1672=) c.4858C>A (p.Arg1620=) c.256C>A n.389C>A c.400C>A (p.Arg134=) c.5200C>A (p.Arg1734=) c.1054C>A (p.Arg352=) c.457C>A (p.Arg153=) | gnomAD v4 |
19 | g.13235686G>A | CA505658796 | CACNA1A | c.4995C>T (p.Ala1665=) c.5001C>T (p.Ala1667=) c.414C>T n.219C>T c.156C>T (p.Ala52=) n.200C>T c.4998C>T (p.Ala1666=) n.984C>T c.310C>T c.5004C>T (p.Ala1668=) c.291C>T (p.Ala97=) c.5013C>T (p.Ala1671=) c.4857C>T (p.Ala1619=) c.255C>T n.388C>T c.399C>T (p.Ala133=) c.5199C>T (p.Ala1733=) c.1053C>T (p.Ala351=) c.456C>T (p.Ala152=) | |
19 | g.13235686G>C | CA505658797 | CACNA1A | c.4995C>G (p.Ala1665=) c.5001C>G (p.Ala1667=) c.414C>G n.219C>G c.156C>G (p.Ala52=) n.200C>G c.4998C>G (p.Ala1666=) n.984C>G c.310C>G c.5004C>G (p.Ala1668=) c.291C>G (p.Ala97=) c.5013C>G (p.Ala1671=) c.4857C>G (p.Ala1619=) c.255C>G n.388C>G c.399C>G (p.Ala133=) c.5199C>G (p.Ala1733=) c.1053C>G (p.Ala351=) c.456C>G (p.Ala152=) | |
19 | g.13235686G>T | CA505658798 | CACNA1A | c.4995C>A (p.Ala1665=) c.5001C>A (p.Ala1667=) c.414C>A n.219C>A c.156C>A (p.Ala52=) n.200C>A c.4998C>A (p.Ala1666=) n.984C>A c.310C>A c.5004C>A (p.Ala1668=) c.291C>A (p.Ala97=) c.5013C>A (p.Ala1671=) c.4857C>A (p.Ala1619=) c.255C>A n.388C>A c.399C>A (p.Ala133=) c.5199C>A (p.Ala1733=) c.1053C>A (p.Ala351=) c.456C>A (p.Ala152=) | |
19 | g.13235687G>A | CA404336911 | CACNA1A | c.4994C>T (p.Ala1665Val) c.5000C>T (p.Ala1667Val) c.413C>T n.218C>T c.155C>T (p.Ala52Val) n.199C>T c.4997C>T (p.Ala1666Val) n.983C>T c.309C>T c.5003C>T (p.Ala1668Val) c.290C>T (p.Ala97Val) c.5012C>T (p.Ala1671Val) c.4856C>T (p.Ala1619Val) c.254C>T n.387C>T c.398C>T (p.Ala133Val) c.5198C>T (p.Ala1733Val) c.1052C>T (p.Ala351Val) c.455C>T (p.Ala152Val) | |
19 | g.13235687G>C | CA404336918 | CACNA1A | c.4994C>G (p.Ala1665Gly) c.5000C>G (p.Ala1667Gly) c.413C>G n.218C>G c.155C>G (p.Ala52Gly) n.199C>G c.4997C>G (p.Ala1666Gly) n.983C>G c.309C>G c.5003C>G (p.Ala1668Gly) c.290C>G (p.Ala97Gly) c.5012C>G (p.Ala1671Gly) c.4856C>G (p.Ala1619Gly) c.254C>G n.387C>G c.398C>G (p.Ala133Gly) c.5198C>G (p.Ala1733Gly) c.1052C>G (p.Ala351Gly) c.455C>G (p.Ala152Gly) | |
19 | g.13235687G>T | CA404336913 | CACNA1A | c.4994C>A (p.Ala1665Asp) c.5000C>A (p.Ala1667Asp) c.413C>A n.218C>A c.155C>A (p.Ala52Asp) n.199C>A c.4997C>A (p.Ala1666Asp) n.983C>A c.309C>A c.5003C>A (p.Ala1668Asp) c.290C>A (p.Ala97Asp) c.5012C>A (p.Ala1671Asp) c.4856C>A (p.Ala1619Asp) c.254C>A n.387C>A c.398C>A (p.Ala133Asp) c.5198C>A (p.Ala1733Asp) c.1052C>A (p.Ala351Asp) c.455C>A (p.Ala152Asp) | |
19 | g.13235688C>A | CA404336921 | CACNA1A | c.4993G>T (p.Ala1665Ser) c.4999G>T (p.Ala1667Ser) c.412G>T n.217G>T c.154G>T (p.Ala52Ser) n.198G>T c.4996G>T (p.Ala1666Ser) n.982G>T c.308G>T c.5002G>T (p.Ala1668Ser) c.289G>T (p.Ala97Ser) c.5011G>T (p.Ala1671Ser) c.4855G>T (p.Ala1619Ser) c.253G>T n.386G>T c.397G>T (p.Ala133Ser) c.5197G>T (p.Ala1733Ser) c.1051G>T (p.Ala351Ser) c.454G>T (p.Ala152Ser) | |
19 | g.13235688C>G | CA404336927 | CACNA1A | c.4993G>C (p.Ala1665Pro) c.4999G>C (p.Ala1667Pro) c.412G>C n.217G>C c.154G>C (p.Ala52Pro) n.198G>C c.4996G>C (p.Ala1666Pro) n.982G>C c.308G>C c.5002G>C (p.Ala1668Pro) c.289G>C (p.Ala97Pro) c.5011G>C (p.Ala1671Pro) c.4855G>C (p.Ala1619Pro) c.253G>C n.386G>C c.397G>C (p.Ala133Pro) c.5197G>C (p.Ala1733Pro) c.1051G>C (p.Ala351Pro) c.454G>C (p.Ala152Pro) | |
19 | g.13235688C>T | CA404336924 | CACNA1A | c.4993G>A (p.Ala1665Thr) c.4999G>A (p.Ala1667Thr) c.412G>A n.217G>A c.154G>A (p.Ala52Thr) n.198G>A c.4996G>A (p.Ala1666Thr) n.982G>A c.308G>A c.5002G>A (p.Ala1668Thr) c.289G>A (p.Ala97Thr) c.5011G>A (p.Ala1671Thr) c.4855G>A (p.Ala1619Thr) c.253G>A n.386G>A c.397G>A (p.Ala133Thr) c.5197G>A (p.Ala1733Thr) c.1051G>A (p.Ala351Thr) c.454G>A (p.Ala152Thr) | |
19 | g.13235689A>C | CA505658802 | CACNA1A | c.4992T>G (p.Ala1664=) c.4998T>G (p.Ala1666=) c.411T>G n.216T>G c.153T>G (p.Ala51=) n.197T>G c.4995T>G (p.Ala1665=) n.981T>G c.307T>G c.5001T>G (p.Ala1667=) c.288T>G (p.Ala96=) c.5010T>G (p.Ala1670=) c.4854T>G (p.Ala1618=) c.252T>G n.385T>G c.396T>G (p.Ala132=) c.5196T>G (p.Ala1732=) c.1050T>G (p.Ala350=) c.453T>G (p.Ala151=) | |
19 | g.13235689A>G | CA505658804 | CACNA1A | c.4992T>C (p.Ala1664=) c.4998T>C (p.Ala1666=) c.411T>C n.216T>C c.153T>C (p.Ala51=) n.197T>C c.4995T>C (p.Ala1665=) n.981T>C c.307T>C c.5001T>C (p.Ala1667=) c.288T>C (p.Ala96=) c.5010T>C (p.Ala1670=) c.4854T>C (p.Ala1618=) c.252T>C n.385T>C c.396T>C (p.Ala132=) c.5196T>C (p.Ala1732=) c.1050T>C (p.Ala350=) c.453T>C (p.Ala151=) | gnomAD v4 |
19 | g.13235689A>T | CA505658803 | CACNA1A | c.4992T>A (p.Ala1664=) c.4998T>A (p.Ala1666=) c.411T>A n.216T>A c.153T>A (p.Ala51=) n.197T>A c.4995T>A (p.Ala1665=) n.981T>A c.307T>A c.5001T>A (p.Ala1667=) c.288T>A (p.Ala96=) c.5010T>A (p.Ala1670=) c.4854T>A (p.Ala1618=) c.252T>A n.385T>A c.396T>A (p.Ala132=) c.5196T>A (p.Ala1732=) c.1050T>A (p.Ala350=) c.453T>A (p.Ala151=) | |
19 | g.13235690G>A | CA404336931 | CACNA1A | c.4991C>T (p.Ala1664Val) c.4997C>T (p.Ala1666Val) c.410C>T n.215C>T c.152C>T (p.Ala51Val) n.196C>T c.4994C>T (p.Ala1665Val) n.980C>T c.306C>T c.5000C>T (p.Ala1667Val) c.287C>T (p.Ala96Val) c.5009C>T (p.Ala1670Val) c.4853C>T (p.Ala1618Val) c.251C>T n.384C>T c.395C>T (p.Ala132Val) c.5195C>T (p.Ala1732Val) c.1049C>T (p.Ala350Val) c.452C>T (p.Ala151Val) | |
19 | g.13235690G>C | CA404336936 | CACNA1A | c.4991C>G (p.Ala1664Gly) c.4997C>G (p.Ala1666Gly) c.410C>G n.215C>G c.152C>G (p.Ala51Gly) n.196C>G c.4994C>G (p.Ala1665Gly) n.980C>G c.306C>G c.5000C>G (p.Ala1667Gly) c.287C>G (p.Ala96Gly) c.5009C>G (p.Ala1670Gly) c.4853C>G (p.Ala1618Gly) c.251C>G n.384C>G c.395C>G (p.Ala132Gly) c.5195C>G (p.Ala1732Gly) c.1049C>G (p.Ala350Gly) c.452C>G (p.Ala151Gly) | ClinVar |
19 | g.13235690G>T | CA404336934 | CACNA1A | c.4991C>A (p.Ala1664Asp) c.4997C>A (p.Ala1666Asp) c.410C>A n.215C>A c.152C>A (p.Ala51Asp) n.196C>A c.4994C>A (p.Ala1665Asp) n.980C>A c.306C>A c.5000C>A (p.Ala1667Asp) c.287C>A (p.Ala96Asp) c.5009C>A (p.Ala1670Asp) c.4853C>A (p.Ala1618Asp) c.251C>A n.384C>A c.395C>A (p.Ala132Asp) c.5195C>A (p.Ala1732Asp) c.1049C>A (p.Ala350Asp) c.452C>A (p.Ala151Asp) | |
19 | g.13235691C>A | CA404336947 | CACNA1A | c.4990G>T (p.Ala1664Ser) c.4996G>T (p.Ala1666Ser) c.409G>T n.214G>T c.151G>T (p.Ala51Ser) n.195G>T c.4993G>T (p.Ala1665Ser) n.979G>T c.305G>T c.4999G>T (p.Ala1667Ser) c.286G>T (p.Ala96Ser) c.5008G>T (p.Ala1670Ser) c.4852G>T (p.Ala1618Ser) c.250G>T n.383G>T c.394G>T (p.Ala132Ser) c.5194G>T (p.Ala1732Ser) c.1048G>T (p.Ala350Ser) c.451G>T (p.Ala151Ser) | |
19 | g.13235691C>G | CA404336952 | CACNA1A | c.4990G>C (p.Ala1664Pro) c.4996G>C (p.Ala1666Pro) c.409G>C n.214G>C c.151G>C (p.Ala51Pro) n.195G>C c.4993G>C (p.Ala1665Pro) n.979G>C c.305G>C c.4999G>C (p.Ala1667Pro) c.286G>C (p.Ala96Pro) c.5008G>C (p.Ala1670Pro) c.4852G>C (p.Ala1618Pro) c.250G>C n.383G>C c.394G>C (p.Ala132Pro) c.5194G>C (p.Ala1732Pro) c.1048G>C (p.Ala350Pro) c.451G>C (p.Ala151Pro) | |
19 | g.13235691C>T | CA404336955 | CACNA1A | c.4990G>A (p.Ala1664Thr) c.4996G>A (p.Ala1666Thr) c.409G>A n.214G>A c.151G>A (p.Ala51Thr) n.195G>A c.4993G>A (p.Ala1665Thr) n.979G>A c.305G>A c.4999G>A (p.Ala1667Thr) c.286G>A (p.Ala96Thr) c.5008G>A (p.Ala1670Thr) c.4852G>A (p.Ala1618Thr) c.250G>A n.383G>A c.394G>A (p.Ala132Thr) c.5194G>A (p.Ala1732Thr) c.1048G>A (p.Ala350Thr) c.451G>A (p.Ala151Thr) | |
19 | g.13235692T>A | CA505658805 | CACNA1A | c.4989A>T (p.Arg1663=) c.4995A>T (p.Arg1665=) c.408A>T n.213A>T c.150A>T (p.Arg50=) n.194A>T c.4992A>T (p.Arg1664=) n.978A>T c.304A>T c.4998A>T (p.Arg1666=) c.285A>T (p.Arg95=) c.5007A>T (p.Arg1669=) c.4851A>T (p.Arg1617=) c.249A>T n.382A>T c.393A>T (p.Arg131=) c.5193A>T (p.Arg1731=) c.1047A>T (p.Arg349=) c.450A>T (p.Arg150=) | |
19 | g.13235692T>C | CA505658806 | CACNA1A | c.4989A>G (p.Arg1663=) c.4995A>G (p.Arg1665=) c.408A>G n.213A>G c.150A>G (p.Arg50=) n.194A>G c.4992A>G (p.Arg1664=) n.978A>G c.304A>G c.4998A>G (p.Arg1666=) c.285A>G (p.Arg95=) c.5007A>G (p.Arg1669=) c.4851A>G (p.Arg1617=) c.249A>G n.382A>G c.393A>G (p.Arg131=) c.5193A>G (p.Arg1731=) c.1047A>G (p.Arg349=) c.450A>G (p.Arg150=) | |
19 | g.13235692T>G | CA505658807 | CACNA1A | c.4989A>C (p.Arg1663=) c.4995A>C (p.Arg1665=) c.408A>C n.213A>C c.150A>C (p.Arg50=) n.194A>C c.4992A>C (p.Arg1664=) n.978A>C c.304A>C c.4998A>C (p.Arg1666=) c.285A>C (p.Arg95=) c.5007A>C (p.Arg1669=) c.4851A>C (p.Arg1617=) c.249A>C n.382A>C c.393A>C (p.Arg131=) c.5193A>C (p.Arg1731=) c.1047A>C (p.Arg349=) c.450A>C (p.Arg150=) | |
19 | g.13235693C>A | CA404336958 | CACNA1A | c.4988G>T (p.Arg1663Leu) c.4994G>T (p.Arg1665Leu) c.407G>T n.212G>T c.149G>T (p.Arg50Leu) n.193G>T c.4991G>T (p.Arg1664Leu) n.977G>T c.303G>T c.4997G>T (p.Arg1666Leu) c.284G>T (p.Arg95Leu) c.5006G>T (p.Arg1669Leu) c.4850G>T (p.Arg1617Leu) c.248G>T n.381G>T c.392G>T (p.Arg131Leu) c.5192G>T (p.Arg1731Leu) c.1046G>T (p.Arg349Leu) c.449G>T (p.Arg150Leu) | |
19 | g.13235693C= | CA2323795783 | CACNA1A | c.4988G= (p.Arg1663=) c.4994G= (p.Arg1665=) c.407G= n.212G= c.149G= (p.Arg50=) n.193G= c.4991G= (p.Arg1664=) n.977G= c.303G= c.4997G= (p.Arg1666=) c.284G= (p.Arg95=) c.5006G= (p.Arg1669=) c.4850G= (p.Arg1617=) c.248G= n.381G= c.392G= (p.Arg131=) c.5192G= (p.Arg1731=) c.1046G= (p.Arg349=) c.449G= (p.Arg150=) | |
19 | g.13235693C>G | CA404336959 | CACNA1A | c.4988G>C (p.Arg1663Pro) c.4994G>C (p.Arg1665Pro) c.407G>C n.212G>C c.149G>C (p.Arg50Pro) n.193G>C c.4991G>C (p.Arg1664Pro) n.977G>C c.303G>C c.4997G>C (p.Arg1666Pro) c.284G>C (p.Arg95Pro) c.5006G>C (p.Arg1669Pro) c.4850G>C (p.Arg1617Pro) c.248G>C n.381G>C c.392G>C (p.Arg131Pro) c.5192G>C (p.Arg1731Pro) c.1046G>C (p.Arg349Pro) c.449G>C (p.Arg150Pro) | gnomAD v4 |
19 | g.13235693C>T | CA185906 | CACNA1A | c.4988G>A (p.Arg1663Gln) c.4994G>A (p.Arg1665Gln) c.407G>A n.212G>A c.149G>A (p.Arg50Gln) n.193G>A c.4991G>A (p.Arg1664Gln) n.977G>A c.303G>A c.4997G>A (p.Arg1666Gln) c.284G>A (p.Arg95Gln) c.5006G>A (p.Arg1669Gln) c.4850G>A (p.Arg1617Gln) c.248G>A n.381G>A c.392G>A (p.Arg131Gln) c.5192G>A (p.Arg1731Gln) c.1046G>A (p.Arg349Gln) c.449G>A (p.Arg150Gln) | ClinVar dbSNP |
19 | g.13235694G>A | CA404336960 | CACNA1A | c.4987C>T (p.Arg1663Ter) c.4993C>T (p.Arg1665Ter) c.406C>T n.211C>T c.148C>T (p.Arg50Ter) n.192C>T c.4990C>T (p.Arg1664Ter) n.976C>T c.302C>T c.4996C>T (p.Arg1666Ter) c.283C>T (p.Arg95Ter) c.5005C>T (p.Arg1669Ter) c.4849C>T (p.Arg1617Ter) c.247C>T n.380C>T c.391C>T (p.Arg131Ter) c.5191C>T (p.Arg1731Ter) c.1045C>T (p.Arg349Ter) c.448C>T (p.Arg150Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.13235694G>C | CA404336962 | CACNA1A | c.4987C>G (p.Arg1663Gly) c.4993C>G (p.Arg1665Gly) c.406C>G n.211C>G c.148C>G (p.Arg50Gly) n.192C>G c.4990C>G (p.Arg1664Gly) n.976C>G c.302C>G c.4996C>G (p.Arg1666Gly) c.283C>G (p.Arg95Gly) c.5005C>G (p.Arg1669Gly) c.4849C>G (p.Arg1617Gly) c.247C>G n.380C>G c.391C>G (p.Arg131Gly) c.5191C>G (p.Arg1731Gly) c.1045C>G (p.Arg349Gly) c.448C>G (p.Arg150Gly) | |
19 | g.13235694G= | CA2323795784 | CACNA1A | c.4987C= (p.Arg1663=) c.4993C= (p.Arg1665=) c.406C= n.211C= c.148C= (p.Arg50=) n.192C= c.4990C= (p.Arg1664=) n.976C= c.302C= c.4996C= (p.Arg1666=) c.283C= (p.Arg95=) c.5005C= (p.Arg1669=) c.4849C= (p.Arg1617=) c.247C= n.380C= c.391C= (p.Arg131=) c.5191C= (p.Arg1731=) c.1045C= (p.Arg349=) c.448C= (p.Arg150=) | |
19 | g.13235694G>T | CA505658808 | CACNA1A | c.4987C>A (p.Arg1663=) c.4993C>A (p.Arg1665=) c.406C>A n.211C>A c.148C>A (p.Arg50=) n.192C>A c.4990C>A (p.Arg1664=) n.976C>A c.302C>A c.4996C>A (p.Arg1666=) c.283C>A (p.Arg95=) c.5005C>A (p.Arg1669=) c.4849C>A (p.Arg1617=) c.247C>A n.380C>A c.391C>A (p.Arg131=) c.5191C>A (p.Arg1731=) c.1045C>A (p.Arg349=) c.448C>A (p.Arg150=) | |
19 | g.13235695G>A | CA505658809 | CACNA1A | c.4986C>T (p.Phe1662=) c.4992C>T (p.Phe1664=) c.405C>T n.210C>T c.147C>T (p.Phe49=) n.191C>T c.4989C>T (p.Phe1663=) n.975C>T c.301C>T c.4995C>T (p.Phe1665=) c.282C>T (p.Phe94=) c.5004C>T (p.Phe1668=) c.4848C>T (p.Phe1616=) c.246C>T n.379C>T c.390C>T (p.Phe130=) c.5190C>T (p.Phe1730=) c.1044C>T (p.Phe348=) c.447C>T (p.Phe149=) | |
19 | g.13235695G>C | CA404336963 | CACNA1A | c.4986C>G (p.Phe1662Leu) c.4992C>G (p.Phe1664Leu) c.405C>G n.210C>G c.147C>G (p.Phe49Leu) n.191C>G c.4989C>G (p.Phe1663Leu) n.975C>G c.301C>G c.4995C>G (p.Phe1665Leu) c.282C>G (p.Phe94Leu) c.5004C>G (p.Phe1668Leu) c.4848C>G (p.Phe1616Leu) c.246C>G n.379C>G c.390C>G (p.Phe130Leu) c.5190C>G (p.Phe1730Leu) c.1044C>G (p.Phe348Leu) c.447C>G (p.Phe149Leu) | |
19 | g.13235695G>T | CA404336965 | CACNA1A | c.4986C>A (p.Phe1662Leu) c.4992C>A (p.Phe1664Leu) c.405C>A n.210C>A c.147C>A (p.Phe49Leu) n.191C>A c.4989C>A (p.Phe1663Leu) n.975C>A c.301C>A c.4995C>A (p.Phe1665Leu) c.282C>A (p.Phe94Leu) c.5004C>A (p.Phe1668Leu) c.4848C>A (p.Phe1616Leu) c.246C>A n.379C>A c.390C>A (p.Phe130Leu) c.5190C>A (p.Phe1730Leu) c.1044C>A (p.Phe348Leu) c.447C>A (p.Phe149Leu) | |
19 | g.13235696A>C | CA404336969 | CACNA1A | c.4985T>G (p.Phe1662Cys) c.4991T>G (p.Phe1664Cys) c.404T>G n.209T>G c.146T>G (p.Phe49Cys) n.190T>G c.4988T>G (p.Phe1663Cys) n.974T>G c.300T>G c.4994T>G (p.Phe1665Cys) c.281T>G (p.Phe94Cys) c.5003T>G (p.Phe1668Cys) c.4847T>G (p.Phe1616Cys) c.245T>G n.378T>G c.389T>G (p.Phe130Cys) c.5189T>G (p.Phe1730Cys) c.1043T>G (p.Phe348Cys) c.446T>G (p.Phe149Cys) | |
19 | g.13235696A>G | CA404336971 | CACNA1A | c.4985T>C (p.Phe1662Ser) c.4991T>C (p.Phe1664Ser) c.404T>C n.209T>C c.146T>C (p.Phe49Ser) n.190T>C c.4988T>C (p.Phe1663Ser) n.974T>C c.300T>C c.4994T>C (p.Phe1665Ser) c.281T>C (p.Phe94Ser) c.5003T>C (p.Phe1668Ser) c.4847T>C (p.Phe1616Ser) c.245T>C n.378T>C c.389T>C (p.Phe130Ser) c.5189T>C (p.Phe1730Ser) c.1043T>C (p.Phe348Ser) c.446T>C (p.Phe149Ser) | |
19 | g.13235696A>T | CA404336973 | CACNA1A | c.4985T>A (p.Phe1662Tyr) c.4991T>A (p.Phe1664Tyr) c.404T>A n.209T>A c.146T>A (p.Phe49Tyr) n.190T>A c.4988T>A (p.Phe1663Tyr) n.974T>A c.300T>A c.4994T>A (p.Phe1665Tyr) c.281T>A (p.Phe94Tyr) c.5003T>A (p.Phe1668Tyr) c.4847T>A (p.Phe1616Tyr) c.245T>A n.378T>A c.389T>A (p.Phe130Tyr) c.5189T>A (p.Phe1730Tyr) c.1043T>A (p.Phe348Tyr) c.446T>A (p.Phe149Tyr) | |
19 | g.13235697A>C | CA404336977 | CACNA1A | c.4984T>G (p.Phe1662Val) c.4990T>G (p.Phe1664Val) c.403T>G n.208T>G c.145T>G (p.Phe49Val) n.189T>G c.4987T>G (p.Phe1663Val) n.973T>G c.299T>G c.4993T>G (p.Phe1665Val) c.280T>G (p.Phe94Val) c.5002T>G (p.Phe1668Val) c.4846T>G (p.Phe1616Val) c.244T>G n.377T>G c.388T>G (p.Phe130Val) c.5188T>G (p.Phe1730Val) c.1042T>G (p.Phe348Val) c.445T>G (p.Phe149Val) | |
19 | g.13235697A>G | CA404336979 | CACNA1A | c.4984T>C (p.Phe1662Leu) c.4990T>C (p.Phe1664Leu) c.403T>C n.208T>C c.145T>C (p.Phe49Leu) n.189T>C c.4987T>C (p.Phe1663Leu) n.973T>C c.299T>C c.4993T>C (p.Phe1665Leu) c.280T>C (p.Phe94Leu) c.5002T>C (p.Phe1668Leu) c.4846T>C (p.Phe1616Leu) c.244T>C n.377T>C c.388T>C (p.Phe130Leu) c.5188T>C (p.Phe1730Leu) c.1042T>C (p.Phe348Leu) c.445T>C (p.Phe149Leu) | |
19 | g.13235697A>T | CA404336981 | CACNA1A | c.4984T>A (p.Phe1662Ile) c.4990T>A (p.Phe1664Ile) c.403T>A n.208T>A c.145T>A (p.Phe49Ile) n.189T>A c.4987T>A (p.Phe1663Ile) n.973T>A c.299T>A c.4993T>A (p.Phe1665Ile) c.280T>A (p.Phe94Ile) c.5002T>A (p.Phe1668Ile) c.4846T>A (p.Phe1616Ile) c.244T>A n.377T>A c.388T>A (p.Phe130Ile) c.5188T>A (p.Phe1730Ile) c.1042T>A (p.Phe348Ile) c.445T>A (p.Phe149Ile) |