UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74493161G>A | CA2147069897 | NPC2 | c.82+32C>T (n.82+32C>T) c.50+32C>T (n.50+32C>T) c.147+870C>T | dbSNP |
| 14 | g.74493161G= | CA2147069896 | NPC2 | c.82+32C= (n.82+32C=) c.50+32C= (n.50+32C=) c.147+870C= | |
| 14 | g.74493161G>T | CA2625667040 | NPC2 | c.82+32C>A (n.82+32C>A) c.50+32C>A (n.50+32C>A) c.147+870C>A | gnomAD v4 |
| 14 | g.74493162C>A | CA2625667042 | NPC2 | c.82+31G>T (n.82+31G>T) c.50+31G>T (n.50+31G>T) c.147+869G>T | gnomAD v4 |
| 14 | g.74493162C>T | CA2575576660 | NPC2 | c.82+31G>A (n.82+31G>A) c.50+31G>A (n.50+31G>A) c.147+869G>A | gnomAD v4 |
| 14 | g.74493163G>A | CA964742140 | NPC2 | c.82+30C>T (n.82+30C>T) c.50+30C>T (n.50+30C>T) c.147+868C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74493163G>C | CA2147069899 | NPC2 | c.82+30C>G (n.82+30C>G) c.50+30C>G (n.50+30C>G) c.147+868C>G | dbSNP |
| 14 | g.74493163G= | CA2147069898 | NPC2 | c.82+30C= (n.82+30C=) c.50+30C= (n.50+30C=) c.147+868C= | |
| 14 | g.74493163G>T | CA2575576661 | NPC2 | c.82+30C>A (n.82+30C>A) c.50+30C>A (n.50+30C>A) c.147+868C>A | gnomAD v4 |
| 14 | g.74493164C>T | CA2625667046 | NPC2 | c.82+29G>A (n.82+29G>A) c.50+29G>A (n.50+29G>A) c.147+867G>A | gnomAD v4 |
| 14 | g.74493165G>A | CA615021725 | NPC2 | c.82+28C>T (n.82+28C>T) c.50+28C>T (n.50+28C>T) c.147+866C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493165G= | CA2147069900 | NPC2 | c.82+28C= (n.82+28C=) c.50+28C= (n.50+28C=) c.147+866C= | |
| 14 | g.74493165G>T | CA2568746459 | NPC2 | c.82+28C>A (n.82+28C>A) c.50+28C>A (n.50+28C>A) c.147+866C>A | gnomAD v4 |
| 14 | g.74493167G>A | CA2625667050 | NPC2 | c.82+26C>T (n.82+26C>T) c.50+26C>T (n.50+26C>T) c.147+864C>T | gnomAD v4 |
| 14 | g.74493167G>C | CA615021726 | NPC2 | c.82+26C>G (n.82+26C>G) c.50+26C>G (n.50+26C>G) c.147+864C>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493167G= | CA2147069901 | NPC2 | c.82+26C= (n.82+26C=) c.50+26C= (n.50+26C=) c.147+864C= | |
| 14 | g.74493168A= | CA2147069902 | NPC2 | c.82+25T= (n.82+25T=) c.50+25T= (n.50+25T=) c.147+863T= | |
| 14 | g.74493168A>T | CA615021727 | NPC2 | c.82+25T>A (n.82+25T>A) c.50+25T>A (n.50+25T>A) c.147+863T>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493169A>C | CA2802156035 | NPC2 | c.82+24T>G (n.82+24T>G) c.50+24T>G (n.50+24T>G) c.147+862T>G | |
| 14 | g.74493170C>A | CA7268203 | NPC2 | c.82+23G>T (n.82+23G>T) c.50+23G>T (n.50+23G>T) c.147+861G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493170C= | CA2147069903 | NPC2 | c.82+23G= (n.82+23G=) c.50+23G= (n.50+23G=) c.147+861G= | |
| 14 | g.74493170C>T | CA7268202 | NPC2 | c.82+23G>A (n.82+23G>A) c.50+23G>A (n.50+23G>A) c.147+861G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493171C>A | CA2625667059 | NPC2 | c.82+22G>T (n.82+22G>T) c.50+22G>T (n.50+22G>T) c.147+860G>T | gnomAD v4 |
| 14 | g.74493171C= | CA2147069904 | NPC2 | c.82+22G= (n.82+22G=) c.50+22G= (n.50+22G=) c.147+860G= | |
| 14 | g.74493171C>G | CA7268204 | NPC2 | c.82+22G>C (n.82+22G>C) c.50+22G>C (n.50+22G>C) c.147+860G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493171C>T | CA2625667061 | NPC2 | c.82+22G>A (n.82+22G>A) c.50+22G>A (n.50+22G>A) c.147+860G>A | gnomAD v4 |
| 14 | g.74493173T>C | CA7268205 | NPC2 | c.82+20A>G (n.82+20A>G) c.50+20A>G (n.50+20A>G) c.147+858A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493173T= | CA2147069905 | NPC2 | c.82+20A= (n.82+20A=) c.50+20A= (n.50+20A=) c.147+858A= | |
| 14 | g.74493176del | CA2575576662 | NPC2 | c.82+19del (n.82+19del) c.50+19del (n.50+19del) c.147+857del | |
| 14 | g.74493176G>T | CA2625667064 | NPC2 | c.82+17C>A (n.82+17C>A) c.50+17C>A (n.50+17C>A) c.147+855C>A | gnomAD v4 |
| 14 | g.74493177C>A | CA2625667066 | NPC2 | c.82+16G>T (n.82+16G>T) c.50+16G>T (n.50+16G>T) c.147+854G>T | gnomAD v4 |
| 14 | g.74493177C>G | CA2802156044 | NPC2 | c.82+16G>C (n.82+16G>C) c.50+16G>C (n.50+16G>C) c.147+854G>C | |
| 14 | g.74493177C>T | CA2625667067 | NPC2 | c.82+16G>A (n.82+16G>A) c.50+16G>A (n.50+16G>A) c.147+854G>A | ClinVar gnomAD v4 |
| 14 | g.74493178G>A | CA708507489 | NPC2 | c.82+15C>T (n.82+15C>T) c.50+15C>T (n.50+15C>T) c.147+853C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74493178G>C | CA615021733 | NPC2 | c.82+15C>G (n.82+15C>G) c.50+15C>G (n.50+15C>G) c.147+853C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493178G= | CA2147069906 | NPC2 | c.82+15C= (n.82+15C=) c.50+15C= (n.50+15C=) c.147+853C= | |
| 14 | g.74493178G>T | CA615021735 | NPC2 | c.82+15C>A (n.82+15C>A) c.50+15C>A (n.50+15C>A) c.147+853C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493180del | CA2625667083 | NPC2 | c.82+15del (n.82+15del) c.50+15del (n.50+15del) c.147+853del | gnomAD v4 |
| 14 | g.74493179G>A | CA2625667087 | NPC2 | c.82+14C>T (n.82+14C>T) c.50+14C>T (n.50+14C>T) c.147+852C>T | gnomAD v4 |
| 14 | g.74493179G>T | CA2625667088 | NPC2 | c.82+14C>A (n.82+14C>A) c.50+14C>A (n.50+14C>A) c.147+852C>A | gnomAD v4 |
| 14 | g.74493180G>A | CA2625667089 | NPC2 | c.82+13C>T (n.82+13C>T) c.50+13C>T (n.50+13C>T) c.147+851C>T | gnomAD v4 |
| 14 | g.74493180G>C | CA2729882713 | NPC2 | c.82+13C>G (n.82+13C>G) c.50+13C>G (n.50+13C>G) c.147+851C>G | dbSNP |
| 14 | g.74493180G= | CA2147069907 | NPC2 | c.82+13C= (n.82+13C=) c.50+13C= (n.50+13C=) c.147+851C= | |
| 14 | g.74493180G>T | CA263573216 | NPC2 | c.82+13C>A (n.82+13C>A) c.50+13C>A (n.50+13C>A) c.147+851C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.74493181C>A | CA263573218 | NPC2 | c.82+12G>T (n.82+12G>T) c.50+12G>T (n.50+12G>T) c.147+850G>T | dbSNP |
| 14 | g.74493181C= | CA2147069908 | NPC2 | c.82+12G= (n.82+12G=) c.50+12G= (n.50+12G=) c.147+850G= | |
| 14 | g.74493181C>T | CA2625667090 | NPC2 | c.82+12G>A (n.82+12G>A) c.50+12G>A (n.50+12G>A) c.147+850G>A | ClinVar gnomAD v4 |
| 14 | g.74493182C>A | CA2625667092 | NPC2 | c.82+11G>T (n.82+11G>T) c.50+11G>T (n.50+11G>T) c.147+849G>T | gnomAD v4 |
| 14 | g.74493182C= | CA2147069909 | NPC2 | c.82+11G= (n.82+11G=) c.50+11G= (n.50+11G=) c.147+849G= | |
| 14 | g.74493182C>G | CA2625667091 | NPC2 | c.82+11G>C (n.82+11G>C) c.50+11G>C (n.50+11G>C) c.147+849G>C | gnomAD v4 |
| 14 | g.74493182C>T | CA615021739 | NPC2 | c.82+11G>A (n.82+11G>A) c.50+11G>A (n.50+11G>A) c.147+849G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493183T>A | CA2625667094 | NPC2 | c.82+10A>T (n.82+10A>T) c.50+10A>T (n.50+10A>T) c.147+848A>T | gnomAD v4 |
| 14 | g.74493183T>G | CA2580088738 | NPC2 | c.82+10A>C (n.82+10A>C) c.50+10A>C (n.50+10A>C) c.147+848A>C | ClinVar |
| 14 | g.74493184G>A | CA263573220 | NPC2 | c.82+9C>T (n.82+9C>T) c.50+9C>T (n.50+9C>T) c.147+847C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493184G= | CA2147069910 | NPC2 | c.82+9C= (n.82+9C=) c.50+9C= (n.50+9C=) c.147+847C= | |
| 14 | g.74493187dup | CA2499222725 | NPC2 | c.82+9dup (n.82+9dup) c.50+9dup (n.50+9dup) c.147+847dup | ClinVar dbSNP |
| 14 | g.74493187del | CA2575576663 | NPC2 | c.82+9del (n.82+9del) c.50+9del (n.50+9del) c.147+847del | |
| 14 | g.74493185G>A | CA708507518 | NPC2 | c.82+8C>T (n.82+8C>T) c.50+8C>T (n.50+8C>T) c.147+846C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74493185G>C | CA615021744 | NPC2 | c.82+8C>G (n.82+8C>G) c.50+8C>G (n.50+8C>G) c.147+846C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493185G= | CA2147069911 | NPC2 | c.82+8C= (n.82+8C=) c.50+8C= (n.50+8C=) c.147+846C= | |
| 14 | g.74493185G>T | CA2625667114 | NPC2 | c.82+8C>A (n.82+8C>A) c.50+8C>A (n.50+8C>A) c.147+846C>A | gnomAD v4 |
| 14 | g.74493186G>A | CA7268206 | NPC2 | c.82+7C>T (n.82+7C>T) c.50+7C>T (n.50+7C>T) c.147+845C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493186G= | CA2147069912 | NPC2 | c.82+7C= (n.82+7C=) c.50+7C= (n.50+7C=) c.147+845C= | |
| 14 | g.74493187G>A | CA615021748 | NPC2 | c.82+6C>T (n.82+6C>T) c.50+6C>T (n.50+6C>T) c.147+844C>T | ClinVar dbSNP gnomAD v2 |
| 14 | g.74493187G= | CA2147069913 | NPC2 | c.82+6C= (n.82+6C=) c.50+6C= (n.50+6C=) c.147+844C= | |
| 14 | g.74493189T>C | CA615021752 | NPC2 | c.82+4A>G (n.82+4A>G) c.50+4A>G (n.50+4A>G) c.147+842A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493189T= | CA2147069914 | NPC2 | c.82+4A= (n.82+4A=) c.50+4A= (n.50+4A=) c.147+842A= | |
| 14 | g.74493191A= | CA2147069915 | NPC2 | c.82+2T= (n.82+2T=) c.50+2T= (n.50+2T=) c.147+840T= | |
| 14 | g.74493191A>C | CA390376612 | NPC2 | c.82+2T>G (n.82+2T>G) c.50+2T>G (n.50+2T>G) c.147+840T>G | |
| 14 | g.74493191A>G | CA10584016 | NPC2 | c.82+2T>C (n.82+2T>C) c.50+2T>C (n.50+2T>C) c.147+840T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.74493191A>T | CA390376614 | NPC2 | c.82+2T>A (n.82+2T>A) c.50+2T>A (n.50+2T>A) c.147+840T>A | |
| 14 | g.74493192C>A | CA390376617 | NPC2 | c.82+1G>T (n.82+1G>T) c.50+1G>T (n.50+1G>T) c.147+839G>T | |
| 14 | g.74493192C>G | CA390376618 | NPC2 | c.82+1G>C (n.82+1G>C) c.50+1G>C (n.50+1G>C) c.147+839G>C | |
| 14 | g.74493192C>T | CA390376620 | NPC2 | c.82+1G>A (n.82+1G>A) c.50+1G>A (n.50+1G>A) c.147+839G>A | |
| 14 | g.74493193dup | CA915940421 | NPC2 | c.82+1dup c.50+1dup c.147+839dup | |
| 14 | g.74493193C>A | CA390376622 | NPC2 | c.82G>T (p.Gly28Cys) c.50G>T (p.Arg17Leu) c.147+838G>T | gnomAD v4 |
| 14 | g.74493193C>G | CA390376624 | NPC2 | c.82G>C (p.Gly28Arg) c.50G>C (p.Arg17Pro) c.147+838G>C | gnomAD v4 |
| 14 | g.74493193C>T | CA390376625 | NPC2 | c.82G>A (p.Gly28Ser) c.50G>A (p.Arg17Gln) c.147+838G>A | gnomAD v4 |
| 14 | g.74493194G>A | CA7268207 | NPC2 | c.81C>T (p.Cys27=) c.49C>T (p.Arg17Trp) c.147+837C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493194G>C | CA390376626 | NPC2 | c.81C>G (p.Cys27Trp) c.49C>G (p.Arg17Gly) c.147+837C>G | |
| 14 | g.74493194G= | CA2147069916 | NPC2 | c.81C= (p.Cys27=) c.49C= (p.Arg17=) c.147+837C= | |
| 14 | g.74493194G>T | CA390376627 | NPC2 | c.81C>A (p.Cys27Ter) c.49C>A (p.Arg17=) c.147+837C>A | gnomAD v4 |
| 14 | g.74493195C>A | CA390376630 | NPC2 | c.80G>T (p.Cys27Phe) c.48G>T (p.Leu16=) c.147+836G>T | |
| 14 | g.74493195C= | CA2147069917 | NPC2 | c.80G= (p.Cys27=) c.48G= (p.Leu16=) c.147+836G= | |
| 14 | g.74493195C>G | CA390376629 | NPC2 | c.80G>C (p.Cys27Ser) c.48G>C (p.Leu16=) c.147+836G>C | |
| 14 | g.74493195C>T | CA390376628 | NPC2 | c.80G>A (p.Cys27Tyr) c.48G>A (p.Leu16=) c.147+836G>A | |
| 14 | g.74493196A= | CA2147069918 | NPC2 | c.79T= (p.Cys27=) c.47T= (p.Leu16=) c.147+835T= | |
| 14 | g.74493196A>C | CA390376631 | NPC2 | c.79T>G (p.Cys27Gly) c.47T>G (p.Leu16Arg) c.147+835T>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493196A>G | CA390376632 | NPC2 | c.79T>C (p.Cys27Arg) c.47T>C (p.Leu16Pro) c.147+835T>C | |
| 14 | g.74493196A>T | CA390376633 | NPC2 | c.79T>A (p.Cys27Ser) c.47T>A (p.Leu16Gln) c.147+835T>A | |
| 14 | g.74493196dup | CA7268208 | NPC2 | c.79dup (p.Cys27LeufsTer?) c.47dup (p.Arg17AlafsTer8) c.147+835dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493197G>A | CA487153968 | NPC2 | c.78C>T (p.Asp26=) c.46C>T (p.Leu16=) c.147+834C>T | |
| 14 | g.74493197G>C | CA390376634 | NPC2 | c.78C>G (p.Asp26Glu) c.46C>G (p.Leu16Val) c.147+834C>G | |
| 14 | g.74493197G>T | CA390376635 | NPC2 | c.78C>A (p.Asp26Glu) c.46C>A (p.Leu16Met) c.147+834C>A | |
| 14 | g.74493198T>A | CA390376638 | NPC2 | c.77A>T (p.Asp26Val) c.45A>T (p.Gly15=) c.147+833A>T | |
| 14 | g.74493198T>C | CA390376636 | NPC2 | c.77A>G (p.Asp26Gly) c.45A>G (p.Gly15=) c.147+833A>G | |
| 14 | g.74493198T>G | CA390376637 | NPC2 | c.77A>C (p.Asp26Ala) c.45A>C (p.Gly15=) c.147+833A>C | |
| 14 | g.74493199C>A | CA390376639 | NPC2 | c.76G>T (p.Asp26Tyr) c.44G>T (p.Gly15Val) c.147+832G>T | gnomAD v4 COSMIC |
| 14 | g.74493199C>G | CA390376640 | NPC2 | c.76G>C (p.Asp26His) c.44G>C (p.Gly15Ala) c.147+832G>C | |
| 14 | g.74493199C>T | CA390376641 | NPC2 | c.76G>A (p.Asp26Asn) c.44G>A (p.Gly15Glu) c.147+832G>A | |
| 14 | g.74493200C>A | CA390376642 | NPC2 | c.75G>T (p.Lys25Asn) c.43G>T (p.Gly15Ter) c.147+831G>T | |
| 14 | g.74493200C>G | CA390376643 | NPC2 | c.75G>C (p.Lys25Asn) c.43G>C (p.Gly15Arg) c.147+831G>C | |
| 14 | g.74493200C>T | CA487153969 | NPC2 | c.75G>A (p.Lys25=) c.43G>A (p.Gly15Arg) c.147+831G>A | gnomAD v4 |
| 14 | g.74493201T>A | CA390376644 | NPC2 | c.74A>T (p.Lys25Met) c.42A>T (p.Gln14His) c.147+830A>T | |
| 14 | g.74493201T>C | CA390376646 | NPC2 | c.74A>G (p.Lys25Arg) c.42A>G (p.Gln14=) c.147+830A>G | ClinVar |
| 14 | g.74493201T>G | CA390376645 | NPC2 | c.74A>C (p.Lys25Thr) c.42A>C (p.Gln14His) c.147+830A>C | |
| 14 | g.74493202T>A | CA390376647 | NPC2 | c.73A>T (p.Lys25Ter) c.41A>T (p.Gln14Leu) c.147+829A>T | |
| 14 | g.74493202T>C | CA390376648 | NPC2 | c.73A>G (p.Lys25Glu) c.41A>G (p.Gln14Arg) c.147+829A>G | |
| 14 | g.74493202T>G | CA390376649 | NPC2 | c.73A>C (p.Lys25Gln) c.41A>C (p.Gln14Pro) c.147+829A>C | |
| 14 | g.74493203G>A | CA487153970 | NPC2 | c.72C>T (p.Phe24=) c.40C>T (p.Gln14Ter) c.147+828C>T | ClinVar |
| 14 | g.74493203G>C | CA390376650 | NPC2 | c.72C>G (p.Phe24Leu) c.40C>G (p.Gln14Glu) c.147+828C>G | dbSNP |
| 14 | g.74493203G= | CA2147069919 | NPC2 | c.72C= (p.Phe24=) c.40C= (p.Gln14=) c.147+828C= | |
| 14 | g.74493203G>T | CA390376651 | NPC2 | c.72C>A (p.Phe24Leu) c.40C>A (p.Gln14Lys) c.147+828C>A | |
| 14 | g.74493204A>C | CA390376652 | NPC2 | c.71T>G (p.Phe24Cys) c.39T>G (p.Val13=) c.147+827T>G | gnomAD v4 |
| 14 | g.74493204A>G | CA390376653 | NPC2 | c.71T>C (p.Phe24Ser) c.39T>C (p.Val13=) c.147+827T>C | |
| 14 | g.74493204A>T | CA390376654 | NPC2 | c.71T>A (p.Phe24Tyr) c.39T>A (p.Val13=) c.147+827T>A | |
| 14 | g.74493205A>C | CA390376655 | NPC2 | c.70T>G (p.Phe24Val) c.38T>G (p.Val13Gly) c.147+826T>G | |
| 14 | g.74493205A>G | CA390376656 | NPC2 | c.70T>C (p.Phe24Leu) c.38T>C (p.Val13Ala) c.147+826T>C | |
| 14 | g.74493205A>T | CA390376657 | NPC2 | c.70T>A (p.Phe24Ile) c.38T>A (p.Val13Asp) c.147+826T>A | |
| 14 | g.74493206C>A | CA390376658 | NPC2 | c.69G>T (p.Gln23His) c.37G>T (p.Val13Phe) c.147+825G>T | |
| 14 | g.74493206C= | CA2147069920 | NPC2 | c.69G= (p.Gln23=) c.37G= (p.Val13=) c.147+825G= | |
| 14 | g.74493206C>G | CA390376659 | NPC2 | c.69G>C (p.Gln23His) c.37G>C (p.Val13Leu) c.147+825G>C | |
| 14 | g.74493206C>T | CA7268209 | NPC2 | c.69G>A (p.Gln23=) c.37G>A (p.Val13Ile) c.147+825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493207T>A | CA390376660 | NPC2 | c.68A>T (p.Gln23Leu) c.36A>T (p.Ala12=) c.147+824A>T | |
| 14 | g.74493207T>C | CA7268210 | NPC2 | c.68A>G (p.Gln23Arg) c.36A>G (p.Ala12=) c.147+824A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493207T>G | CA390376661 | NPC2 | c.68A>C (p.Gln23Pro) c.36A>C (p.Ala12=) c.147+824A>C | |
| 14 | g.74493207T= | CA2147069921 | NPC2 | c.68A= (p.Gln23=) c.36A= (p.Ala12=) c.147+824A= | |
| 14 | g.74493208G>A | CA390376662 | NPC2 | c.67C>T (p.Gln23Ter) c.35C>T (p.Ala12Val) c.147+823C>T | ClinVar |
| 14 | g.74493208G>C | CA390376663 | NPC2 | c.67C>G (p.Gln23Glu) c.35C>G (p.Ala12Gly) c.147+823C>G | |
| 14 | g.74493208G>T | CA390376664 | NPC2 | c.67C>A (p.Gln23Lys) c.35C>A (p.Ala12Glu) c.147+823C>A | |
| 14 | g.74493209C>A | CA487153971 | NPC2 | c.66G>T (p.Val22=) c.34G>T (p.Ala12Ser) c.147+822G>T | gnomAD v4 |
| 14 | g.74493209C>G | CA487153972 | NPC2 | c.66G>C (p.Val22=) c.34G>C (p.Ala12Pro) c.147+822G>C | |
| 14 | g.74493209C>T | CA487153973 | NPC2 | c.66G>A (p.Val22=) c.34G>A (p.Ala12Thr) c.147+822G>A | gnomAD v4 |
| 14 | g.74493210A>C | CA390376668 | NPC2 | c.65T>G (p.Val22Gly) c.33T>G (p.Gly11=) c.147+821T>G | |
| 14 | g.74493210A>G | CA390376666 | NPC2 | c.65T>C (p.Val22Ala) c.33T>C (p.Gly11=) c.147+821T>C | |
| 14 | g.74493210A>T | CA390376665 | NPC2 | c.65T>A (p.Val22Glu) c.33T>A (p.Gly11=) c.147+821T>A | |
| 14 | g.74493210_74493211delinsGGTGAG | CA2580088741 | NPC2 | c.64_65delinsCTCACC (p.Val22LeufsTer?) c.32_33delinsCTCACC (p.Gly11AlafsTer15) c.147+820_147+821delinsCTCACC | ClinVar |
| 14 | g.74493211C>A | CA390376670 | NPC2 | c.64G>T (p.Val22Leu) c.32G>T (p.Gly11Val) c.147+820G>T | |
| 14 | g.74493211C>G | CA390376671 | NPC2 | c.64G>C (p.Val22Leu) c.32G>C (p.Gly11Ala) c.147+820G>C | |
| 14 | g.74493211C>T | CA390376672 | NPC2 | c.64G>A (p.Val22Met) c.32G>A (p.Gly11Asp) c.147+820G>A | |
| 14 | g.74493212C>A | CA487153975 | NPC2 | c.63G>T (p.Pro21=) c.31G>T (p.Gly11Cys) c.147+819G>T | |
| 14 | g.74493212C= | CA2147069922 | NPC2 | c.63G= (p.Pro21=) c.31G= (p.Gly11=) c.147+819G= | |
| 14 | g.74493212C>G | CA487153976 | NPC2 | c.63G>C (p.Pro21=) c.31G>C (p.Gly11Arg) c.147+819G>C | gnomAD v4 |
| 14 | g.74493212C>T | CA487153977 | NPC2 | c.63G>A (p.Pro21=) c.31G>A (p.Gly11Ser) c.147+819G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493213G>A | CA7268211 | NPC2 | c.62C>T (p.Pro21Leu) c.30C>T (p.Thr10=) c.147+818C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493213G>C | CA390376675 | NPC2 | c.62C>G (p.Pro21Arg) c.30C>G (p.Thr10=) c.147+818C>G | |
| 14 | g.74493213G= | CA2147069923 | NPC2 | c.62C= (p.Pro21=) c.30C= (p.Thr10=) c.147+818C= | |
| 14 | g.74493213G>T | CA390376677 | NPC2 | c.62C>A (p.Pro21Gln) c.30C>A (p.Thr10=) c.147+818C>A | ClinVar gnomAD v4 |
| 14 | g.74493214G>A | CA390376679 | NPC2 | c.61C>T (p.Pro21Ser) c.29C>T (p.Thr10Ile) c.147+817C>T | |
| 14 | g.74493214G>C | CA390376682 | NPC2 | c.61C>G (p.Pro21Ala) c.29C>G (p.Thr10Ser) c.147+817C>G | |
| 14 | g.74493214G>T | CA390376681 | NPC2 | c.61C>A (p.Pro21Thr) c.29C>A (p.Thr10Asn) c.147+817C>A | gnomAD v4 |
| 14 | g.74493215T>A | CA390376685 | NPC2 | c.60A>T (p.Glu20Asp) c.28A>T (p.Thr10Ser) c.147+816A>T | |
| 14 | g.74493215T>C | CA487153978 | NPC2 | c.60A>G (p.Glu20=) c.28A>G (p.Thr10Ala) c.147+816A>G | |
| 14 | g.74493215T>G | CA390376686 | NPC2 | c.60A>C (p.Glu20Asp) c.28A>C (p.Thr10Pro) c.147+816A>C | |
| 14 | g.74493216T>A | CA390376688 | NPC2 | c.59A>T (p.Glu20Val) c.27A>T (p.Arg9=) c.147+815A>T | |
| 14 | g.74493216T>C | CA390376690 | NPC2 | c.59A>G (p.Glu20Gly) c.27A>G (p.Arg9=) c.147+815A>G | |
| 14 | g.74493216T>G | CA390376692 | NPC2 | c.59A>C (p.Glu20Ala) c.27A>C (p.Arg9=) c.147+815A>C | |
| 14 | g.74493217C>A | CA340788 | NPC2 | c.58G>T (p.Glu20Ter) c.26G>T (p.Arg9Leu) c.147+814G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493217C= | CA2147069924 | NPC2 | c.58G= (p.Glu20=) c.26G= (p.Arg9=) c.147+814G= | |
| 14 | g.74493217C>G | CA390376697 | NPC2 | c.58G>C (p.Glu20Gln) c.26G>C (p.Arg9Pro) c.147+814G>C | |
| 14 | g.74493217C>T | CA7268212 | NPC2 | c.58G>A (p.Glu20Lys) c.26G>A (p.Arg9Gln) c.147+814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493218G>A | CA7268213 | NPC2 | c.57C>T (p.Ala19=) c.25C>T (p.Arg9Ter) c.147+813C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493218G>C | CA487153979 | NPC2 | c.57C>G (p.Ala19=) c.25C>G (p.Arg9Gly) c.147+813C>G | |
| 14 | g.74493218G= | CA2147069925 | NPC2 | c.57C= (p.Ala19=) c.25C= (p.Arg9=) c.147+813C= | |
| 14 | g.74493218G>T | CA487153980 | NPC2 | c.57C>A (p.Ala19=) c.25C>A (p.Arg9=) c.147+813C>A | |
| 14 | g.74493219G>A | CA390376704 | NPC2 | c.56C>T (p.Ala19Val) c.24C>T (p.Gly8=) c.147+812C>T | dbSNP gnomAD v4 |
| 14 | g.74493219G>C | CA390376706 | NPC2 | c.56C>G (p.Ala19Gly) c.24C>G (p.Gly8=) c.147+812C>G | |
| 14 | g.74493219G= | CA2147069926 | NPC2 | c.56C= (p.Ala19=) c.24C= (p.Gly8=) c.147+812C= | |
| 14 | g.74493219G>T | CA7268214 | NPC2 | c.56C>A (p.Ala19Asp) c.24C>A (p.Gly8=) c.147+812C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493220C>A | CA390376715 | NPC2 | c.55G>T (p.Ala19Ser) c.23G>T (p.Gly8Val) c.147+811G>T | |
| 14 | g.74493220C>G | CA390376712 | NPC2 | c.55G>C (p.Ala19Pro) c.23G>C (p.Gly8Ala) c.147+811G>C | |
| 14 | g.74493220C>T | CA390376714 | NPC2 | c.55G>A (p.Ala19Thr) c.23G>A (p.Gly8Asp) c.147+811G>A | gnomAD v4 |
| 14 | g.74493221C>A | CA390376718 | NPC2 | c.54G>T (p.Gln18His) c.22G>T (p.Gly8Cys) c.147+810G>T | gnomAD v4 |
| 14 | g.74493221C= | CA2147069927 | NPC2 | c.54G= (p.Gln18=) c.22G= (p.Gly8=) c.147+810G= | |
| 14 | g.74493221C>G | CA390376721 | NPC2 | c.54G>C (p.Gln18His) c.22G>C (p.Gly8Arg) c.147+810G>C | |
| 14 | g.74493221C>T | CA487153981 | NPC2 | c.54G>A (p.Gln18=) c.22G>A (p.Gly8Ser) c.147+810G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493222T>A | CA390376724 | NPC2 | c.53A>T (p.Gln18Leu) c.21A>T (p.Pro7=) c.147+809A>T | |
| 14 | g.74493222T>C | CA390376725 | NPC2 | c.53A>G (p.Gln18Arg) c.21A>G (p.Pro7=) c.147+809A>G | |
| 14 | g.74493222T>G | CA390376727 | NPC2 | c.53A>C (p.Gln18Pro) c.21A>C (p.Pro7=) c.147+809A>C | |
| 14 | g.74493223G>A | CA390376734 | NPC2 | c.52C>T (p.Gln18Ter) c.20C>T (p.Pro7Leu) c.147+808C>T | |
| 14 | g.74493223G>C | CA390376731 | NPC2 | c.52C>G (p.Gln18Glu) c.20C>G (p.Pro7Arg) c.147+808C>G | |
| 14 | g.74493223G>T | CA390376730 | NPC2 | c.52C>A (p.Gln18Lys) c.20C>A (p.Pro7Gln) c.147+808C>A | |
| 14 | g.74493224G>A | CA487153982 | NPC2 | c.51C>T (p.Ala17=) c.19C>T (p.Pro7Ser) c.147+807C>T | |
| 14 | g.74493224G>C | CA487153983 | NPC2 | c.51C>G (p.Ala17=) c.19C>G (p.Pro7Ala) c.147+807C>G | |
| 14 | g.74493224G= | CA2147069928 | NPC2 | c.51C= (p.Ala17=) c.19C= (p.Pro7=) c.147+807C= | |
| 14 | g.74493224G>T | CA487153984 | NPC2 | c.51C>A (p.Ala17=) c.19C>A (p.Pro7Thr) c.147+807C>A | ClinVar dbSNP gnomAD v2 |
| 14 | g.74493225G>A | CA7268215 | NPC2 | c.50C>T (p.Ala17Val) c.18C>T (p.Cys6=) c.147+806C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493225G>C | CA390376738 | NPC2 | c.50C>G (p.Ala17Gly) c.18C>G (p.Cys6Trp) c.147+806C>G | dbSNP gnomAD v2 |
| 14 | g.74493225G= | CA2147069929 | NPC2 | c.50C= (p.Ala17=) c.18C= (p.Cys6=) c.147+806C= | |
| 14 | g.74493225G>T | CA390376740 | NPC2 | c.50C>A (p.Ala17Asp) c.18C>A (p.Cys6Ter) c.147+806C>A | gnomAD v4 |
| 14 | g.74493226C>A | CA390376742 | NPC2 | c.49G>T (p.Ala17Ser) c.17G>T (p.Cys6Phe) c.147+805G>T | |
| 14 | g.74493226C= | CA2147069930 | NPC2 | c.49G= (p.Ala17=) c.17G= (p.Cys6=) c.147+805G= | |
| 14 | g.74493226C>G | CA390376745 | NPC2 | c.49G>C (p.Ala17Pro) c.17G>C (p.Cys6Ser) c.147+805G>C | gnomAD v4 |
| 14 | g.74493226C>T | CA263573234 | NPC2 | c.49G>A (p.Ala17Thr) c.17G>A (p.Cys6Tyr) c.147+805G>A | dbSNP |
| 14 | g.74493227A>C | CA487153985 | NPC2 | c.48T>G (p.Ala16=) c.16T>G (p.Cys6Gly) c.147+804T>G | |
| 14 | g.74493227A>G | CA487153987 | NPC2 | c.48T>C (p.Ala16=) c.16T>C (p.Cys6Arg) c.147+804T>C | |
| 14 | g.74493227A>T | CA487153986 | NPC2 | c.48T>A (p.Ala16=) c.16T>A (p.Cys6Ser) c.147+804T>A | |
| 14 | g.74493231_74493240del | CA2625667176 | NPC2 | c.39_48del (p.Ser14ProfsTer18) c.7_16del (p.Gln3AlafsTer?) c.147+795_147+804del | gnomAD v4 |
| 14 | g.74493228G>A | CA390376751 | NPC2 | c.47C>T (p.Ala16Val) c.15C>T (p.Arg5=) c.147+803C>T | |
| 14 | g.74493228G>C | CA390376768 | NPC2 | c.47C>G (p.Ala16Gly) c.15C>G (p.Arg5=) c.147+803C>G | |
| 14 | g.74493228G>T | CA390376754 | NPC2 | c.47C>A (p.Ala16Asp) c.15C>A (p.Arg5=) c.147+803C>A | |
| 14 | g.74493229C>A | CA390376771 | NPC2 | c.46G>T (p.Ala16Ser) c.14G>T (p.Arg5Leu) c.147+802G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493229C= | CA2147069931 | NPC2 | c.46G= (p.Ala16=) c.14G= (p.Arg5=) c.147+802G= | |
| 14 | g.74493229C>G | CA390376774 | NPC2 | c.46G>C (p.Ala16Pro) c.14G>C (p.Arg5Pro) c.147+802G>C | |
| 14 | g.74493229C>T | CA390376776 | NPC2 | c.46G>A (p.Ala16Thr) c.14G>A (p.Arg5His) c.147+802G>A | gnomAD v4 |
| 14 | g.74493230G>A | CA487153988 | NPC2 | c.45C>T (p.Thr15=) c.13C>T (p.Arg5Cys) c.147+801C>T | |
| 14 | g.74493230G>C | CA487153989 | NPC2 | c.45C>G (p.Thr15=) c.13C>G (p.Arg5Gly) c.147+801C>G | |
| 14 | g.74493230G= | CA2147069932 | NPC2 | c.45C= (p.Thr15=) c.13C= (p.Arg5=) c.147+801C= | |
| 14 | g.74493230G>T | CA263573236 | NPC2 | c.45C>A (p.Thr15=) c.13C>A (p.Arg5Ser) c.147+801C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493231G>A | CA390376780 | NPC2 | c.44C>T (p.Thr15Ile) c.12C>T (p.His4=) c.147+800C>T | |
| 14 | g.74493231G>C | CA263573238 | NPC2 | c.44C>G (p.Thr15Ser) c.12C>G (p.His4Gln) c.147+800C>G | dbSNP |
| 14 | g.74493231G= | CA2147069933 | NPC2 | c.44C= (p.Thr15=) c.12C= (p.His4=) c.147+800C= | |
| 14 | g.74493231G>T | CA390376782 | NPC2 | c.44C>A (p.Thr15Asn) c.12C>A (p.His4Gln) c.147+800C>A | |
| 14 | g.74493232T>A | CA390376784 | NPC2 | c.43A>T (p.Thr15Ser) c.11A>T (p.His4Leu) c.147+799A>T | |
| 14 | g.74493232T>C | CA390376788 | NPC2 | c.43A>G (p.Thr15Ala) c.11A>G (p.His4Arg) c.147+799A>G | |
| 14 | g.74493232T>G | CA390376791 | NPC2 | c.43A>C (p.Thr15Pro) c.11A>C (p.His4Pro) c.147+799A>C | gnomAD v4 |
| 14 | g.74493233G>A | CA487153990 | NPC2 | c.42C>T (p.Ser14=) c.10C>T (p.His4Tyr) c.147+798C>T | gnomAD v4 |
| 14 | g.74493233G>C | CA390376794 | NPC2 | c.42C>G (p.Ser14Arg) c.10C>G (p.His4Asp) c.147+798C>G | |
| 14 | g.74493233G>T | CA390376797 | NPC2 | c.42C>A (p.Ser14Arg) c.10C>A (p.His4Asn) c.147+798C>A | |
| 14 | g.74493234C>A | CA390376800 | NPC2 | c.41G>T (p.Ser14Ile) c.9G>T (p.Gln3His) c.147+797G>T | gnomAD v4 |
| 14 | g.74493234C>G | CA390376804 | NPC2 | c.41G>C (p.Ser14Thr) c.9G>C (p.Gln3His) c.147+797G>C | |
| 14 | g.74493234C>T | CA390376803 | NPC2 | c.41G>A (p.Ser14Asn) c.9G>A (p.Gln3=) c.147+797G>A | |
| 14 | g.74493235T>A | CA390376808 | NPC2 | c.40A>T (p.Ser14Cys) c.8A>T (p.Gln3Leu) c.147+796A>T | |
| 14 | g.74493235T>C | CA390376811 | NPC2 | c.40A>G (p.Ser14Gly) c.8A>G (p.Gln3Arg) c.147+796A>G | |
| 14 | g.74493235T>G | CA390376813 | NPC2 | c.40A>C (p.Ser14Arg) c.8A>C (p.Gln3Pro) c.147+796A>C | |
| 14 | g.74493236G>A | CA487153991 | NPC2 | c.39C>T (p.Leu13=) c.7C>T (p.Gln3Ter) c.147+795C>T | |
| 14 | g.74493236G>C | CA487153992 | NPC2 | c.39C>G (p.Leu13=) c.7C>G (p.Gln3Glu) c.147+795C>G | ClinVar COSMIC |
| 14 | g.74493236G>T | CA487153993 | NPC2 | c.39C>A (p.Leu13=) c.7C>A (p.Gln3Lys) c.147+795C>A | |
| 14 | g.74493237A= | CA2147069934 | NPC2 | c.38T= (p.Leu13=) c.6T= (p.Ala2=) c.147+794T= | |
| 14 | g.74493237A>C | CA390376816 | NPC2 | c.38T>G (p.Leu13Arg) c.6T>G (p.Ala2=) c.147+794T>G | |
| 14 | g.74493237A>G | CA7268216 | NPC2 | c.38T>C (p.Leu13Pro) c.6T>C (p.Ala2=) c.147+794T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493237A>T | CA390376820 | NPC2 | c.38T>A (p.Leu13His) c.6T>A (p.Ala2=) c.147+794T>A | |
| 14 | g.74493238G>A | CA390376827 | NPC2 | c.37C>T (p.Leu13Phe) c.5C>T (p.Ala2Val) c.147+793C>T | gnomAD v4 |
| 14 | g.74493238G>C | CA390376825 | NPC2 | c.37C>G (p.Leu13Val) c.5C>G (p.Ala2Gly) c.147+793C>G | |
| 14 | g.74493238G>T | CA390376824 | NPC2 | c.37C>A (p.Leu13Ile) c.5C>A (p.Ala2Asp) c.147+793C>A | |
| 14 | g.74493239C>A | CA487153994 | NPC2 | c.36G>T (p.Ala12=) c.4G>T (p.Ala2Ser) c.147+792G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493239C= | CA2147069935 | NPC2 | c.36G= (p.Ala12=) c.4G= (p.Ala2=) c.147+792G= | |
| 14 | g.74493239C>G | CA487153995 | NPC2 | c.36G>C (p.Ala12=) c.4G>C (p.Ala2Pro) c.147+792G>C | |
| 14 | g.74493239C>T | CA487153996 | NPC2 | c.36G>A (p.Ala12=) c.4G>A (p.Ala2Thr) c.147+792G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.74493240G>A | CA390376836 | NPC2 | c.35C>T (p.Ala12Val) c.3C>T (p.Gly1=) c.147+791C>T | dbSNP gnomAD v4 |
| 14 | g.74493240G>C | CA390376839 | NPC2 | c.35C>G (p.Ala12Gly) c.3C>G (p.Gly1=) c.147+791C>G | |
| 14 | g.74493240G= | CA2147069936 | NPC2 | c.35C= (p.Ala12=) c.3C= (p.Gly1=) c.147+791C= | |
| 14 | g.74493240G>T | CA263573241 | NPC2 | c.35C>A (p.Ala12Glu) c.3C>A (p.Gly1=) c.147+791C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74493241C>A | CA390376845 | NPC2 | c.34G>T (p.Ala12Ser) c.2G>T (p.Gly1Val) c.147+790G>T | dbSNP |
| 14 | g.74493241C= | CA2147069937 | NPC2 | c.34G= (p.Ala12=) c.2G= (p.Gly1=) c.147+790G= | |
| 14 | g.74493241C>G | CA390376846 | NPC2 | c.34G>C (p.Ala12Pro) c.2G>C (p.Gly1Ala) c.147+790G>C | |
| 14 | g.74493241C>T | CA263573244 | NPC2 | c.34G>A (p.Ala12Thr) c.2G>A (p.Gly1Asp) c.147+790G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74493242C>A | CA487153999 | NPC2 | c.33G>T (p.Leu11=) c.1G>T (p.Gly1Cys) c.147+789G>T | |
| 14 | g.74493242C>G | CA487153997 | NPC2 | c.33G>C (p.Leu11=) c.1G>C (p.Gly1Arg) c.147+789G>C | |
| 14 | g.74493242C>T | CA487153998 | NPC2 | c.33G>A (p.Leu11=) c.1G>A (p.Gly1Ser) c.147+789G>A | |
| 14 | g.74493243A>C | CA390376850 | NPC2 | c.32T>G (p.Leu11Arg) c.147+788T>G | |
| 14 | g.74493243A>G | CA390376856 | NPC2 | c.32T>C (p.Leu11Pro) c.147+788T>C | |
| 14 | g.74493243A>T | CA390376853 | NPC2 | c.32T>A (p.Leu11Gln) c.147+788T>A | |
| 14 | g.74493244G>A | CA7268217 | NPC2 | c.31C>T (p.Leu11=) c.147+787C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493244G>C | CA390376861 | NPC2 | c.31C>G (p.Leu11Val) c.147+787C>G | |
| 14 | g.74493244G= | CA2147069938 | NPC2 | c.31C= (p.Leu11=) c.147+787C= | |
| 14 | g.74493244G>T | CA390376864 | NPC2 | c.31C>A (p.Leu11Met) c.147+787C>A | |
| 14 | g.74493245G>A | CA7268218 | NPC2 | c.30C>T (p.Leu10=) c.147+786C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493245G>C | CA487154000 | NPC2 | c.30C>G (p.Leu10=) c.147+786C>G | |
| 14 | g.74493245G= | CA2147069939 | NPC2 | c.30C= (p.Leu10=) c.147+786C= | |
| 14 | g.74493245G>T | CA487154001 | NPC2 | c.30C>A (p.Leu10=) c.147+786C>A | |
| 14 | g.74493246A>C | CA390376868 | NPC2 | c.29T>G (p.Leu10Arg) c.147+785T>G | |
| 14 | g.74493246A>G | CA390376871 | NPC2 | c.29T>C (p.Leu10Pro) c.147+785T>C | |
| 14 | g.74493246A>T | CA390376873 | NPC2 | c.29T>A (p.Leu10His) c.147+785T>A | |
| 14 | g.74493247G>A | CA390376876 | NPC2 | c.28C>T (p.Leu10Phe) c.147+784C>T | |
| 14 | g.74493247G>C | CA390376878 | NPC2 | c.28C>G (p.Leu10Val) c.147+784C>G | |
| 14 | g.74493247G>T | CA390376880 | NPC2 | c.28C>A (p.Leu10Ile) c.147+784C>A | |
| 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 |