Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23561410A= | CA2290176175 | NPC1 | c.581T= (p.Phe194=) n.495T= c.116T= (p.Phe39=) | |
18 | g.23561410A>C | CA401782235 | NPC1 | c.581T>G (p.Phe194Cys) n.495T>G c.116T>G (p.Phe39Cys) | |
18 | g.23561410A>G | CA401782236 | NPC1 | c.581T>C (p.Phe194Ser) n.495T>C c.116T>C (p.Phe39Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23561410A>T | CA401782238 | NPC1 | c.581T>A (p.Phe194Tyr) n.495T>A c.116T>A (p.Phe39Tyr) | |
18 | g.23561411A= | CA2290176176 | NPC1 | c.580T= (p.Phe194=) n.494T= c.115T= (p.Phe39=) | |
18 | g.23561411A>C | CA401782241 | NPC1 | c.580T>G (p.Phe194Val) n.494T>G c.115T>G (p.Phe39Val) | |
18 | g.23561411A>G | CA8913702 | NPC1 | c.580T>C (p.Phe194Leu) n.494T>C c.115T>C (p.Phe39Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23561411A>T | CA401782244 | NPC1 | c.580T>A (p.Phe194Ile) n.494T>A c.115T>A (p.Phe39Ile) | |
18 | g.23561412C>A | CA401782246 | NPC1 | c.579G>T (p.Met193Ile) n.493G>T c.114G>T (p.Met38Ile) | |
18 | g.23561412C= | CA2290176177 | NPC1 | c.579G= (p.Met193=) n.493G= c.114G= (p.Met38=) | |
18 | g.23561412C>G | CA401782247 | NPC1 | c.579G>C (p.Met193Ile) n.493G>C c.114G>C (p.Met38Ile) | |
18 | g.23561412C>T | CA401782249 | NPC1 | c.579G>A (p.Met193Ile) n.493G>A c.114G>A (p.Met38Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23561414_23561426dup | CA2641273143 | NPC1 | c.567_579dup (p.Phe194AspfsTer2) n.481_493dup c.102_114dup (p.Phe39AspfsTer2) | gnomAD v4 |
18 | g.23561413A>C | CA401782253 | NPC1 | c.578T>G (p.Met193Arg) n.492T>G c.113T>G (p.Met38Arg) | |
18 | g.23561413A>G | CA401782251 | NPC1 | c.578T>C (p.Met193Thr) n.492T>C c.113T>C (p.Met38Thr) | gnomAD v4 |
18 | g.23561413A>T | CA401782252 | NPC1 | c.578T>A (p.Met193Lys) n.492T>A c.113T>A (p.Met38Lys) | |
18 | g.23561414T>A | CA401782254 | NPC1 | c.577A>T (p.Met193Leu) n.491A>T c.112A>T (p.Met38Leu) | |
18 | g.23561414T>C | CA8913703 | NPC1 | c.577A>G (p.Met193Val) n.491A>G c.112A>G (p.Met38Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23561414T>G | CA401782256 | NPC1 | c.577A>C (p.Met193Leu) n.491A>C c.112A>C (p.Met38Leu) | |
18 | g.23561414T= | CA2290176178 | NPC1 | c.577A= (p.Met193=) n.491A= c.112A= (p.Met38=) | |
18 | g.23561415G>A | CA503325351 | NPC1 | c.576C>T (p.Tyr192=) n.490C>T c.111C>T (p.Tyr37=) | dbSNP gnomAD v4 |
18 | g.23561415G>C | CA401782259 | NPC1 | c.576C>G (p.Tyr192Ter) n.490C>G c.111C>G (p.Tyr37Ter) | |
18 | g.23561415G= | CA2290176179 | NPC1 | c.576C= (p.Tyr192=) n.490C= c.111C= (p.Tyr37=) | |
18 | g.23561415G>T | CA401782260 | NPC1 | c.576C>A (p.Tyr192Ter) n.490C>A c.111C>A (p.Tyr37Ter) | gnomAD v4 |
18 | g.23561416T>A | CA401782262 | NPC1 | c.575A>T (p.Tyr192Phe) n.489A>T c.110A>T (p.Tyr37Phe) | |
18 | g.23561416T>C | CA401782264 | NPC1 | c.575A>G (p.Tyr192Cys) n.489A>G c.110A>G (p.Tyr37Cys) | |
18 | g.23561416T>G | CA401782265 | NPC1 | c.575A>C (p.Tyr192Ser) n.489A>C c.110A>C (p.Tyr37Ser) | |
18 | g.23561417A= | CA2290176180 | NPC1 | c.574T= (p.Tyr192=) n.488T= c.109T= (p.Tyr37=) | |
18 | g.23561417A>C | CA401782266 | NPC1 | c.574T>G (p.Tyr192Asp) n.488T>G c.109T>G (p.Tyr37Asp) | |
18 | g.23561417A>G | CA297075236 | NPC1 | c.574T>C (p.Tyr192His) n.488T>C c.109T>C (p.Tyr37His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23561417A>T | CA401782268 | NPC1 | c.574T>A (p.Tyr192Asn) n.488T>A c.109T>A (p.Tyr37Asn) | |
18 | g.23561418T>A | CA401782277 | NPC1 | c.573A>T (p.Glu191Asp) n.487A>T c.108A>T (p.Glu36Asp) | |
18 | g.23561418T>C | CA503325352 | NPC1 | c.573A>G (p.Glu191=) n.487A>G c.108A>G (p.Glu36=) | |
18 | g.23561418T>G | CA401782275 | NPC1 | c.573A>C (p.Glu191Asp) n.487A>C c.108A>C (p.Glu36Asp) | |
18 | g.23561419T>A | CA401782279 | NPC1 | c.572A>T (p.Glu191Val) n.486A>T c.107A>T (p.Glu36Val) | |
18 | g.23561419T>C | CA401782281 | NPC1 | c.572A>G (p.Glu191Gly) n.486A>G c.107A>G (p.Glu36Gly) | |
18 | g.23561419T>G | CA401782282 | NPC1 | c.572A>C (p.Glu191Ala) n.486A>C c.107A>C (p.Glu36Ala) | gnomAD v4 |
18 | g.23561420C>A | CA401782285 | NPC1 | c.571G>T (p.Glu191Ter) n.485G>T c.106G>T (p.Glu36Ter) | |
18 | g.23561420C= | CA2290176181 | NPC1 | c.571G= (p.Glu191=) n.485G= c.106G= (p.Glu36=) | |
18 | g.23561420C>G | CA401782286 | NPC1 | c.571G>C (p.Glu191Gln) n.485G>C c.106G>C (p.Glu36Gln) | |
18 | g.23561420C>T | CA401782288 | NPC1 | c.571G>A (p.Glu191Lys) n.485G>A c.106G>A (p.Glu36Lys) | dbSNP gnomAD v4 |
18 | g.23561421A>C | CA401782290 | NPC1 | c.570T>G (p.Ile190Met) n.484T>G c.105T>G (p.Ile35Met) | gnomAD v4 |
18 | g.23561421A>G | CA503325353 | NPC1 | c.570T>C (p.Ile190=) n.484T>C c.105T>C (p.Ile35=) | |
18 | g.23561421A>T | CA503325354 | NPC1 | c.570T>A (p.Ile190=) n.484T>A c.105T>A (p.Ile35=) | |
18 | g.23561422A= | CA2290176182 | NPC1 | c.569T= (p.Ile190=) n.483T= c.104T= (p.Ile35=) | |
18 | g.23561422A>C | CA401782301 | NPC1 | c.569T>G (p.Ile190Ser) n.483T>G c.104T>G (p.Ile35Ser) | |
18 | g.23561422A>G | CA401782303 | NPC1 | c.569T>C (p.Ile190Thr) n.483T>C c.104T>C (p.Ile35Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23561422A>T | CA401782306 | NPC1 | c.569T>A (p.Ile190Asn) n.483T>A c.104T>A (p.Ile35Asn) | |
18 | g.23561423T>A | CA401782311 | NPC1 | c.568A>T (p.Ile190Phe) n.482A>T c.103A>T (p.Ile35Phe) | |
18 | g.23561423T>C | CA401782313 | NPC1 | c.568A>G (p.Ile190Val) n.482A>G c.103A>G (p.Ile35Val) | gnomAD v4 |