Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23560378A= | CA2290175726 | NPC1 | c.734T= (p.Ile245=) n.648T= c.269T= (p.Ile90=) | |
18 | g.23560378A>C | CA401781236 | NPC1 | c.734T>G (p.Ile245Ser) n.648T>G c.269T>G (p.Ile90Ser) | |
18 | g.23560378A>G | CA8913658 | NPC1 | c.734T>C (p.Ile245Thr) n.648T>C c.269T>C (p.Ile90Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560378A>T | CA401781237 | NPC1 | c.734T>A (p.Ile245Asn) n.648T>A c.269T>A (p.Ile90Asn) | |
18 | g.23560379T>A | CA401781238 | NPC1 | c.733A>T (p.Ile245Phe) n.647A>T c.268A>T (p.Ile90Phe) | |
18 | g.23560379T>C | CA401781239 | NPC1 | c.733A>G (p.Ile245Val) n.647A>G c.268A>G (p.Ile90Val) | gnomAD v4 |
18 | g.23560379T>G | CA401781240 | NPC1 | c.733A>C (p.Ile245Leu) n.647A>C c.268A>C (p.Ile90Leu) | |
18 | g.23560380A>C | CA503522142 | NPC1 | c.732T>G (p.Ser244=) n.646T>G c.267T>G (p.Ser89=) | |
18 | g.23560380A>G | CA503522143 | NPC1 | c.732T>C (p.Ser244=) n.646T>C c.267T>C (p.Ser89=) | |
18 | g.23560380A>T | CA503522144 | NPC1 | c.732T>A (p.Ser244=) n.646T>A c.267T>A (p.Ser89=) | |
18 | g.23560381G>A | CA401781241 | NPC1 | c.731C>T (p.Ser244Phe) n.645C>T c.266C>T (p.Ser89Phe) | gnomAD v4 |
18 | g.23560381G>C | CA401781242 | NPC1 | c.731C>G (p.Ser244Cys) n.645C>G c.266C>G (p.Ser89Cys) | |
18 | g.23560381G>T | CA401781243 | NPC1 | c.731C>A (p.Ser244Tyr) n.645C>A c.266C>A (p.Ser89Tyr) | gnomAD v4 |
18 | g.23560382A= | CA2290175727 | NPC1 | c.730T= (p.Ser244=) n.644T= c.265T= (p.Ser89=) | |
18 | g.23560382A>C | CA401781244 | NPC1 | c.730T>G (p.Ser244Ala) n.644T>G c.265T>G (p.Ser89Ala) | |
18 | g.23560382A>G | CA401781245 | NPC1 | c.730T>C (p.Ser244Pro) n.644T>C c.265T>C (p.Ser89Pro) | dbSNP gnomAD v4 |
18 | g.23560382A>T | CA8913659 | NPC1 | c.730T>A (p.Ser244Thr) n.644T>A c.265T>A (p.Ser89Thr) | dbSNP ExAC gnomAD v2 |
18 | g.23560383G>A | CA503522145 | NPC1 | c.729C>T (p.Cys243=) n.643C>T c.264C>T (p.Cys88=) | |
18 | g.23560383G>C | CA401781246 | NPC1 | c.729C>G (p.Cys243Trp) n.643C>G c.264C>G (p.Cys88Trp) | |
18 | g.23560383G>T | CA401781247 | NPC1 | c.729C>A (p.Cys243Ter) n.643C>A c.264C>A (p.Cys88Ter) | |
18 | g.23560384C>A | CA401781250 | NPC1 | c.728G>T (p.Cys243Phe) n.642G>T c.263G>T (p.Cys88Phe) | |
18 | g.23560384C>G | CA401781249 | NPC1 | c.728G>C (p.Cys243Ser) n.642G>C c.263G>C (p.Cys88Ser) | ClinVar |
18 | g.23560384C>T | CA401781248 | NPC1 | c.728G>A (p.Cys243Tyr) n.642G>A c.263G>A (p.Cys88Tyr) | |
18 | g.23560385A= | CA2290175728 | NPC1 | c.727T= (p.Cys243=) n.641T= c.262T= (p.Cys88=) | |
18 | g.23560385A>C | CA401781253 | NPC1 | c.727T>G (p.Cys243Gly) n.641T>G c.262T>G (p.Cys88Gly) | |
18 | g.23560385A>G | CA401781251 | NPC1 | c.727T>C (p.Cys243Arg) n.641T>C c.262T>C (p.Cys88Arg) | |
18 | g.23560385A>T | CA401781252 | NPC1 | c.727T>A (p.Cys243Ser) n.641T>A c.262T>A (p.Cys88Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560386G>A | CA503522146 | NPC1 | c.726C>T (p.Asp242=) n.640C>T c.261C>T (p.Asp87=) | gnomAD v4 |
18 | g.23560386G>C | CA401781254 | NPC1 | c.726C>G (p.Asp242Glu) n.640C>G c.261C>G (p.Asp87Glu) | |
18 | g.23560386G>T | CA401781255 | NPC1 | c.726C>A (p.Asp242Glu) n.640C>A c.261C>A (p.Asp87Glu) | |
18 | g.23560387T>A | CA401781256 | NPC1 | c.725A>T (p.Asp242Val) n.639A>T c.260A>T (p.Asp87Val) | |
18 | g.23560387T>C | CA401781257 | NPC1 | c.725A>G (p.Asp242Gly) n.639A>G c.260A>G (p.Asp87Gly) | |
18 | g.23560387T>G | CA401781258 | NPC1 | c.725A>C (p.Asp242Ala) n.639A>C c.260A>C (p.Asp87Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560387T= | CA2290175729 | NPC1 | c.725A= (p.Asp242=) n.639A= c.260A= (p.Asp87=) | |
18 | g.23560388C>A | CA401781259 | NPC1 | c.724G>T (p.Asp242Tyr) n.638G>T c.259G>T (p.Asp87Tyr) | |
18 | g.23560388C>G | CA401781260 | NPC1 | c.724G>C (p.Asp242His) n.638G>C c.259G>C (p.Asp87His) | |
18 | g.23560388C>T | CA401781261 | NPC1 | c.724G>A (p.Asp242Asn) n.638G>A c.259G>A (p.Asp87Asn) | |
18 | g.23560389T>A | CA401781262 | NPC1 | c.723A>T (p.Gln241His) n.637A>T c.258A>T (p.Gln86His) | |
18 | g.23560389T>C | CA503522147 | NPC1 | c.723A>G (p.Gln241=) n.637A>G c.258A>G (p.Gln86=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560389T>G | CA401781263 | NPC1 | c.723A>C (p.Gln241His) n.637A>C c.258A>C (p.Gln86His) | |
18 | g.23560389T= | CA2290175730 | NPC1 | c.723A= (p.Gln241=) n.637A= c.258A= (p.Gln86=) | |
18 | g.23560390T>A | CA401781266 | NPC1 | c.722A>T (p.Gln241Leu) n.636A>T c.257A>T (p.Gln86Leu) | |
18 | g.23560390T>C | CA401781265 | NPC1 | c.722A>G (p.Gln241Arg) n.636A>G c.257A>G (p.Gln86Arg) | |
18 | g.23560390T>G | CA401781264 | NPC1 | c.722A>C (p.Gln241Pro) n.636A>C c.257A>C (p.Gln86Pro) | |
18 | g.23560391G>A | CA16620670 | NPC1 | c.721C>T (p.Gln241Ter) n.635C>T c.256C>T (p.Gln86Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.23560391G>C | CA401781267 | NPC1 | c.721C>G (p.Gln241Glu) n.635C>G c.256C>G (p.Gln86Glu) | |
18 | g.23560391G= | CA2290175731 | NPC1 | c.721C= (p.Gln241=) n.635C= c.256C= (p.Gln86=) | |
18 | g.23560391G>T | CA401781268 | NPC1 | c.721C>A (p.Gln241Lys) n.635C>A c.256C>A (p.Gln86Lys) | |
18 | g.23560392G>A | CA503522148 | NPC1 | c.720C>T (p.Cys240=) n.634C>T c.255C>T (p.Cys85=) | ClinVar dbSNP gnomAD v4 |
18 | g.23560392G>C | CA401781269 | NPC1 | c.720C>G (p.Cys240Trp) n.634C>G c.255C>G (p.Cys85Trp) |