| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74493247_74493248delinsGC | CA2147069940 | NPC2 | c.27_28delinsGC (p.Leu9=) c.147+783_147+784delinsGC | |
| 14 | g.74493248del | CA342110 | NPC2 | c.27del (p.Leu10SerfsTer25) c.147+783del | ClinVar dbSNP |
| 14 | g.74493248C>A | CA487154004 | NPC2 | c.27G>T (p.Leu9=) c.147+783G>T | |
| 14 | g.74493248C= | CA2147069941 | NPC2 | c.27G= (p.Leu9=) c.147+783G= | |
| 14 | g.74493248C>G | CA487154002 | NPC2 | c.27G>C (p.Leu9=) c.147+783G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493248C>T | CA487154003 | NPC2 | c.27G>A (p.Leu9=) c.147+783G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.74493249A>C | CA390376883 | NPC2 | c.26T>G (p.Leu9Arg) c.147+782T>G | |
| 14 | g.74493249A>G | CA390376887 | NPC2 | c.26T>C (p.Leu9Pro) c.147+782T>C | |
| 14 | g.74493249A>T | CA390376885 | NPC2 | c.26T>A (p.Leu9Gln) c.147+782T>A | |
| 14 | g.74493250G>A | CA263573248 | NPC2 | c.25C>T (p.Leu9=) c.147+781C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.74493250G>C | CA390376890 | NPC2 | c.25C>G (p.Leu9Val) c.147+781C>G | dbSNP |
| 14 | g.74493250G= | CA2147069942 | NPC2 | c.25C= (p.Leu9=) c.147+781C= | |
| 14 | g.74493250G>T | CA390376892 | NPC2 | c.25C>A (p.Leu9Met) c.147+781C>A | |
| 14 | g.74493251G>A | CA487154005 | NPC2 | c.24C>T (p.Phe8=) c.147+780C>T | |
| 14 | g.74493251G>C | CA390376895 | NPC2 | c.24C>G (p.Phe8Leu) c.147+780C>G | dbSNP gnomAD v4 |
| 14 | g.74493251G= | CA2147069943 | NPC2 | c.24C= (p.Phe8=) c.147+780C= | |
| 14 | g.74493251G>T | CA390376897 | NPC2 | c.24C>A (p.Phe8Leu) c.147+780C>A | |
| 14 | g.74493252A>C | CA390376900 | NPC2 | c.23T>G (p.Phe8Cys) c.147+779T>G | |
| 14 | g.74493252A>G | CA390376903 | NPC2 | c.23T>C (p.Phe8Ser) c.147+779T>C | |
| 14 | g.74493252A>T | CA390376905 | NPC2 | c.23T>A (p.Phe8Tyr) c.147+779T>A | |
| 14 | g.74493253A= | CA2147069944 | NPC2 | c.22T= (p.Phe8=) c.147+778T= | |
| 14 | g.74493253A>C | CA390376907 | NPC2 | c.22T>G (p.Phe8Val) c.147+778T>G | |
| 14 | g.74493253A>G | CA390376909 | NPC2 | c.22T>C (p.Phe8Leu) c.147+778T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74493253A>T | CA390376910 | NPC2 | c.22T>A (p.Phe8Ile) c.147+778T>A | |
| 14 | g.74493254T>A | CA487154006 | NPC2 | c.21A>T (p.Thr7=) c.147+777A>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493254T>C | CA263573250 | NPC2 | c.21A>G (p.Thr7=) c.147+777A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493254T>G | CA487154007 | NPC2 | c.21A>C (p.Thr7=) c.147+777A>C | |
| 14 | g.74493254T= | CA2147069945 | NPC2 | c.21A= (p.Thr7=) c.147+777A= | |
| 14 | g.74493255G>A | CA390376922 | NPC2 | c.20C>T (p.Thr7Ile) c.147+776C>T | dbSNP gnomAD v4 |
| 14 | g.74493255G>C | CA390376917 | NPC2 | c.20C>G (p.Thr7Arg) c.147+776C>G | |
| 14 | g.74493255G= | CA2147069946 | NPC2 | c.20C= (p.Thr7=) c.147+776C= | |
| 14 | g.74493255G>T | CA390376915 | NPC2 | c.20C>A (p.Thr7Lys) c.147+776C>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74493256T>A | CA390376927 | NPC2 | c.19A>T (p.Thr7Ser) c.147+775A>T | |
| 14 | g.74493256T>C | CA390376929 | NPC2 | c.19A>G (p.Thr7Ala) c.147+775A>G | |
| 14 | g.74493256T>G | CA390376931 | NPC2 | c.19A>C (p.Thr7Pro) c.147+775A>C | |
| 14 | g.74493256_74493263delinsTAGCTGCC | CA2147069947 | NPC2 | c.12_19delinsGGCAGCTA (p.Leu4=) c.147+768_147+775delinsGGCAGCTA | |
| 14 | g.74493257A>C | CA487154009 | NPC2 | c.18T>G (p.Ala6=) c.147+774T>G | |
| 14 | g.74493257A>G | CA487154010 | NPC2 | c.18T>C (p.Ala6=) c.147+774T>C | |
| 14 | g.74493257A>T | CA487154008 | NPC2 | c.18T>A (p.Ala6=) c.147+774T>A | |
| 14 | g.74493259_74493265del | CA708507668 | NPC2 | c.12_18del (p.Ala5HisfsTer28) c.147+768_147+774del | ClinVar dbSNP gnomAD v4 |
| 14 | g.74493258G>A | CA390376934 | NPC2 | c.17C>T (p.Ala6Val) c.147+773C>T | |
| 14 | g.74493258G>C | CA390376936 | NPC2 | c.17C>G (p.Ala6Gly) c.147+773C>G | |
| 14 | g.74493258G>T | CA390376937 | NPC2 | c.17C>A (p.Ala6Asp) c.147+773C>A | |
| 14 | g.74493259C>A | CA390376940 | NPC2 | c.16G>T (p.Ala6Ser) c.147+772G>T | |
| 14 | g.74493259C>G | CA390376943 | NPC2 | c.16G>C (p.Ala6Pro) c.147+772G>C | gnomAD v4 |
| 14 | g.74493259C>T | CA390376945 | NPC2 | c.16G>A (p.Ala6Thr) c.147+772G>A | gnomAD v4 |
| 14 | g.74493260T>A | CA487154013 | NPC2 | c.15A>T (p.Ala5=) c.147+771A>T | |
| 14 | g.74493260T>C | CA487154011 | NPC2 | c.15A>G (p.Ala5=) c.147+771A>G | ClinVar |
| 14 | g.74493260T>G | CA487154012 | NPC2 | c.15A>C (p.Ala5=) c.147+771A>C | |
| 14 | g.74493261G>A | CA390376947 | NPC2 | c.14C>T (p.Ala5Val) c.147+770C>T | gnomAD v4 COSMIC |