Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74486431C>ACA390532854NPC2c.88G>T (p.Val30Leu)
c.56G>T (p.Cys19Phe)
c.153G>T
14g.74486431C=CA2147067109NPC2c.88G= (p.Val30=)
c.56G= (p.Cys19=)
c.153G=
14g.74486431C>GCA390532855NPC2c.88G>C (p.Val30Leu)
c.56G>C (p.Cys19Ser)
c.153G>C
14g.74486431C>TCA249909NPC2c.88G>A (p.Val30Met)
c.56G>A (p.Cys19Tyr)
c.153G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486432delCA2695219549NPC2c.87del (p.Val30TrpfsTer5)
c.55del (p.Cys19ValfsTer?)
c.152del
14g.74486432A>CCA487220776NPC2c.87T>G (p.Ser29=)
c.55T>G (p.Cys19Gly)
c.152T>G
14g.74486432A>GCA487220772NPC2c.87T>C (p.Ser29=)
c.55T>C (p.Cys19Arg)
c.152T>C
 gnomAD v4
14g.74486432A>TCA487220774NPC2c.87T>A (p.Ser29=)
c.55T>A (p.Cys19Ser)
c.152T>A
14g.74486433G>ACA390532856NPC2c.86C>T (p.Ser29Phe)
c.54C>T (p.Phe18=)
c.151C>T
 gnomAD v4 COSMIC
14g.74486433G>CCA7268193NPC2c.86C>G (p.Ser29Cys)
c.54C>G (p.Phe18Leu)
c.151C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486433G=CA2147067110NPC2c.86C= (p.Ser29=)
c.54C= (p.Phe18=)
c.151C=
14g.74486433G>TCA390532857NPC2c.86C>A (p.Ser29Tyr)
c.54C>A (p.Phe18Leu)
c.151C>A
 gnomAD v4
14g.74486434A>CCA390532859NPC2c.85T>G (p.Ser29Ala)
c.53T>G (p.Phe18Cys)
c.150T>G
14g.74486434A>GCA390532860NPC2c.85T>C (p.Ser29Pro)
c.53T>C (p.Phe18Ser)
c.150T>C
14g.74486434A>TCA390532858NPC2c.85T>A (p.Ser29Thr)
c.53T>A (p.Phe18Tyr)
c.150T>A
14g.74486435A>CCA487220781NPC2c.84T>G (p.Gly28=)
c.52T>G (p.Phe18Val)
c.149T>G
14g.74486435A>GCA487220783NPC2c.84T>C (p.Gly28=)
c.52T>C (p.Phe18Leu)
c.149T>C
14g.74486435A>TCA487220786NPC2c.84T>A (p.Gly28=)
c.52T>A (p.Phe18Ile)
c.149T>A
14g.74486436C>ACA390532862NPC2c.83G>T (p.Gly28Val)
c.51G>T (p.Arg17=)
c.148G>T
 gnomAD v4
14g.74486436C=CA2147067111NPC2c.83G= (p.Gly28=)
c.51G= (p.Arg17=)
c.148G=
14g.74486436C>GCA390532861NPC2c.83G>C (p.Gly28Ala)
c.51G>C (p.Arg17=)
c.148G>C
14g.74486436C>TCA390532863NPC2c.83G>A (p.Gly28Asp)
c.51G>A (p.Arg17=)
c.148G>A
 dbSNP gnomAD v3 gnomAD v4
14g.74486437delCA2625667839NPC2c.83del
c.51del
c.148del
 gnomAD v4
14g.74486437C>ACA390532864NPC2c.83-1G>T (n.83-1G>T)
c.51-1G>T (n.51-1G>T)
c.148-1G>T
 gnomAD v4
14g.74486437C>GCA390532866NPC2c.83-1G>C (n.83-1G>C)
c.51-1G>C (n.51-1G>C)
c.148-1G>C
14g.74486437C>TCA390532865NPC2c.83-1G>A (n.83-1G>A)
c.51-1G>A (n.51-1G>A)
c.148-1G>A
 gnomAD v4
14g.74486438T>ACA390532867NPC2c.83-2A>T (n.83-2A>T)
c.51-2A>T (n.51-2A>T)
c.148-2A>T
 dbSNP gnomAD v4
14g.74486438T>CCA390532868NPC2c.83-2A>G (n.83-2A>G)
c.51-2A>G (n.51-2A>G)
c.148-2A>G
 gnomAD v4
14g.74486438T>GCA390532869NPC2c.83-2A>C (n.83-2A>C)
c.51-2A>C (n.51-2A>C)
c.148-2A>C
14g.74486438T=CA2147067112NPC2c.83-2A= (n.83-2A=)
c.51-2A= (n.51-2A=)
c.148-2A=
14g.74486439G>ACA2625667847NPC2c.83-3C>T (n.83-3C>T)
c.51-3C>T (n.51-3C>T)
c.148-3C>T
 gnomAD v4
14g.74486439G>TCA2625667848NPC2c.83-3C>A (n.83-3C>A)
c.51-3C>A (n.51-3C>A)
c.148-3C>A
 gnomAD v4
14g.74486440C=CA2147067113NPC2c.83-4G= (n.83-4G=)
c.51-4G= (n.51-4G=)
c.148-4G=
14g.74486440C>TCA7268194NPC2c.83-4G>A (n.83-4G>A)
c.51-4G>A (n.51-4G>A)
c.148-4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486441A>GCA2580088735NPC2c.83-5T>C (n.83-5T>C)
c.51-5T>C (n.51-5T>C)
c.148-5T>C
 ClinVar gnomAD v4
14g.74486444A>CCA2580088736NPC2c.83-8T>G (n.83-8T>G)
c.51-8T>G (n.51-8T>G)
c.148-8T>G
 ClinVar
14g.74486444_74486445delinsAGCA2147067114NPC2c.83-9_83-8delinsCT (n.83-9_83-8delinsCT)
c.51-9_51-8delinsCT (n.51-9_51-8delinsCT)
c.148-9_148-8delinsCT
14g.74486445delCA615153778NPC2c.83-9del (n.83-9del)
c.51-9del (n.51-9del)
c.148-9del
 dbSNP gnomAD v2
14g.74486445G>CCA708503981NPC2c.83-9C>G (n.83-9C>G)
c.51-9C>G (n.51-9C>G)
c.148-9C>G
 dbSNP
14g.74486445G=CA2147067115NPC2c.83-9C= (n.83-9C=)
c.51-9C= (n.51-9C=)
c.148-9C=
14g.74486450delCA2625667851NPC2c.83-10del (n.83-10del)
c.51-10del (n.51-10del)
c.148-10del
 gnomAD v4
14g.74486447A>GCA2625667852NPC2c.83-11T>C (n.83-11T>C)
c.51-11T>C (n.51-11T>C)
c.148-11T>C
 ClinVar gnomAD v4
14g.74486451T>CCA708503983NPC2c.83-15A>G (n.83-15A>G)
c.51-15A>G (n.51-15A>G)
c.148-15A>G
 ClinVar dbSNP
14g.74486451T=CA2147067116NPC2c.83-15A= (n.83-15A=)
c.51-15A= (n.51-15A=)
c.148-15A=
14g.74486454A=CA2147067117NPC2c.83-18T= (n.83-18T=)
c.51-18T= (n.51-18T=)
c.148-18T=
14g.74486454A>GCA615153779NPC2c.83-18T>C (n.83-18T>C)
c.51-18T>C (n.51-18T>C)
c.148-18T>C
 dbSNP gnomAD v2
14g.74486455T>CCA2573150178NPC2c.83-19A>G (n.83-19A>G)
c.51-19A>G (n.51-19A>G)
c.148-19A>G
 ClinVar dbSNP
14g.74486456T>CCA708504004NPC2c.83-20A>G (n.83-20A>G)
c.51-20A>G (n.51-20A>G)
c.148-20A>G
 ClinVar dbSNP gnomAD v4
14g.74486456T>GCA2147067118NPC2c.83-20A>C (n.83-20A>C)
c.51-20A>C (n.51-20A>C)
c.148-20A>C
 dbSNP
14g.74486456T=CA2147067119NPC2c.83-20A= (n.83-20A=)
c.51-20A= (n.51-20A=)
c.148-20A=

Number of alleles fetched