Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23560374G>A | CA297074687 | NPC1 | c.738C>T (p.Val246=) n.652C>T c.273C>T (p.Val91=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560374G>C | CA503522138 | NPC1 | c.738C>G (p.Val246=) n.652C>G c.273C>G (p.Val91=) | |
18 | g.23560374G= | CA2290175723 | NPC1 | c.738C= (p.Val246=) n.652C= c.273C= (p.Val91=) | |
18 | g.23560374G>T | CA503522139 | NPC1 | c.738C>A (p.Val246=) n.652C>A c.273C>A (p.Val91=) | |
18 | g.23560374_23560375delinsGA | CA2290175724 | NPC1 | c.737_738delinsTC (p.Val246=) n.651_652delinsTC c.272_273delinsTC (p.Val91=) | |
18 | g.23560374_23560375delinsTG | CA913190527 | NPC1 | c.737_738delinsCA (p.Val246Ala) n.651_652delinsCA c.272_273delinsCA (p.Val91Ala) | ClinVar dbSNP |
18 | g.23560375A>C | CA401781231 | NPC1 | c.737T>G (p.Val246Gly) n.651T>G c.272T>G (p.Val91Gly) | |
18 | g.23560375A>G | CA401781232 | NPC1 | c.737T>C (p.Val246Ala) n.651T>C c.272T>C (p.Val91Ala) | |
18 | g.23560375A>T | CA401781233 | NPC1 | c.737T>A (p.Val246Asp) n.651T>A c.272T>A (p.Val91Asp) | |
18 | g.23560376C>A | CA8913657 | NPC1 | c.736G>T (p.Val246Phe) n.650G>T c.271G>T (p.Val91Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560376C= | CA2290175725 | NPC1 | c.736G= (p.Val246=) n.650G= c.271G= (p.Val91=) | |
18 | g.23560376C>G | CA401781234 | NPC1 | c.736G>C (p.Val246Leu) n.650G>C c.271G>C (p.Val91Leu) | |
18 | g.23560376C>T | CA8913656 | NPC1 | c.736G>A (p.Val246Ile) n.650G>A c.271G>A (p.Val91Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560377A>C | CA401781235 | NPC1 | c.735T>G (p.Ile245Met) n.649T>G c.270T>G (p.Ile90Met) | gnomAD v4 |
18 | g.23560377A>G | CA503522140 | NPC1 | c.735T>C (p.Ile245=) n.649T>C c.270T>C (p.Ile90=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560377A>T | CA503522141 | NPC1 | c.735T>A (p.Ile245=) n.649T>A c.270T>A (p.Ile90=) | |
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=) |