Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23561371_23561375delinsGGAGT | CA2290176157 | NPC1 | c.616_620delinsACTCC (p.Thr206=) n.530_534delinsACTCC c.151_155delinsACTCC (p.Thr51=) | |
18 | g.23561374_23561377del | CA628978914 | NPC1 | c.616_619del (p.Thr206LeufsTer14) n.530_533del c.151_154del (p.Thr51LeufsTer14) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23561374G>A | CA401782092 | NPC1 | c.617C>T (p.Thr206Ile) n.531C>T c.152C>T (p.Thr51Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.23561374G>C | CA401782086 | NPC1 | c.617C>G (p.Thr206Ser) n.531C>G c.152C>G (p.Thr51Ser) | |
18 | g.23561374G= | CA2290176159 | NPC1 | c.617C= (p.Thr206=) n.531C= c.152C= (p.Thr51=) | |
18 | g.23561374G>T | CA401782089 | NPC1 | c.617C>A (p.Thr206Asn) n.531C>A c.152C>A (p.Thr51Asn) | |
18 | g.23561375T>A | CA8913696 | NPC1 | c.616A>T (p.Thr206Ser) n.530A>T c.151A>T (p.Thr51Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23561375T>C | CA401782093 | NPC1 | c.616A>G (p.Thr206Ala) n.530A>G c.151A>G (p.Thr51Ala) | |
18 | g.23561375T>G | CA401782094 | NPC1 | c.616A>C (p.Thr206Pro) n.530A>C c.151A>C (p.Thr51Pro) | |
18 | g.23561375T= | CA2290176160 | NPC1 | c.616A= (p.Thr206=) n.530A= c.151A= (p.Thr51=) | |
18 | g.23561376G>A | CA8913697 | NPC1 | c.615C>T (p.Ile205=) n.529C>T c.150C>T (p.Ile50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23561376G>C | CA401782097 | NPC1 | c.615C>G (p.Ile205Met) n.529C>G c.150C>G (p.Ile50Met) | |
18 | g.23561376G= | CA2290176161 | NPC1 | c.615C= (p.Ile205=) n.529C= c.150C= (p.Ile50=) | |
18 | g.23561376G>T | CA503325333 | NPC1 | c.615C>A (p.Ile205=) n.529C>A c.150C>A (p.Ile50=) | |
18 | g.23561377A>C | CA401782098 | NPC1 | c.614T>G (p.Ile205Ser) n.528T>G c.149T>G (p.Ile50Ser) | |
18 | g.23561377A>G | CA401782099 | NPC1 | c.614T>C (p.Ile205Thr) n.528T>C c.149T>C (p.Ile50Thr) | |
18 | g.23561377A>T | CA401782100 | NPC1 | c.614T>A (p.Ile205Asn) n.528T>A c.149T>A (p.Ile50Asn) | |
18 | g.23561378T>A | CA401782102 | NPC1 | c.613A>T (p.Ile205Phe) n.527A>T c.148A>T (p.Ile50Phe) | |
18 | g.23561378T>C | CA8913698 | NPC1 | c.613A>G (p.Ile205Val) n.527A>G c.148A>G (p.Ile50Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23561378T>G | CA401782104 | NPC1 | c.613A>C (p.Ile205Leu) n.527A>C c.148A>C (p.Ile50Leu) | |
18 | g.23561378T= | CA2290176162 | NPC1 | c.613A= (p.Ile205=) n.527A= c.148A= (p.Ile50=) | |
18 | g.23561378_23561379delinsTG | CA2290176163 | NPC1 | c.612_613delinsCA (p.Thr204=) n.526_527delinsCA c.147_148delinsCA (p.Thr49=) | |
18 | g.23561379G>A | CA202999 | NPC1 | c.612C>T (p.Thr204=) n.526C>T c.147C>T (p.Thr49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23561379G>C | CA503325335 | NPC1 | c.612C>G (p.Thr204=) n.526C>G c.147C>G (p.Thr49=) | |
18 | g.23561379G= | CA2290176165 | NPC1 | c.612C= (p.Thr204=) n.526C= c.147C= (p.Thr49=) | |
18 | g.23561379G>T | CA503325334 | NPC1 | c.612C>A (p.Thr204=) n.526C>A c.147C>A (p.Thr49=) | dbSNP |
18 | g.23561380del | CA2290176164 | NPC1 | c.612del (p.Ile205SerfsTer16) n.526del c.147del (p.Ile50SerfsTer16) | |
18 | g.23561380G>A | CA401782109 | NPC1 | c.611C>T (p.Thr204Ile) n.525C>T c.146C>T (p.Thr49Ile) | |
18 | g.23561380G>C | CA401782111 | NPC1 | c.611C>G (p.Thr204Ser) n.525C>G c.146C>G (p.Thr49Ser) | |
18 | g.23561380G>T | CA401782107 | NPC1 | c.611C>A (p.Thr204Asn) n.525C>A c.146C>A (p.Thr49Asn) | |
18 | g.23561381T>A | CA401782112 | NPC1 | c.610A>T (p.Thr204Ser) n.524A>T c.145A>T (p.Thr49Ser) | |
18 | g.23561381T>C | CA401782114 | NPC1 | c.610A>G (p.Thr204Ala) n.524A>G c.145A>G (p.Thr49Ala) | ClinVar dbSNP gnomAD v4 |
18 | g.23561381T>G | CA401782113 | NPC1 | c.610A>C (p.Thr204Pro) n.524A>C c.145A>C (p.Thr49Pro) | |
18 | g.23561381T= | CA2290176166 | NPC1 | c.610A= (p.Thr204=) n.524A= c.145A= (p.Thr49=) | |
18 | g.23561382A>C | CA401782115 | NPC1 | c.609T>G (p.Phe203Leu) n.523T>G c.144T>G (p.Phe48Leu) | |
18 | g.23561382A>G | CA503325336 | NPC1 | c.609T>C (p.Phe203=) n.523T>C c.144T>C (p.Phe48=) | |
18 | g.23561382A>T | CA401782116 | NPC1 | c.609T>A (p.Phe203Leu) n.523T>A c.144T>A (p.Phe48Leu) | gnomAD v4 |
18 | g.23561384_23561385del | CA2580095637 | NPC1 | c.608_609del (p.Phe203TyrfsTer25) n.522_523del c.143_144del (p.Phe48TyrfsTer25) | ClinVar |
18 | g.23561383A>C | CA401782118 | NPC1 | c.608T>G (p.Phe203Cys) n.522T>G c.143T>G (p.Phe48Cys) | |
18 | g.23561383A>G | CA401782127 | NPC1 | c.608T>C (p.Phe203Ser) n.522T>C c.143T>C (p.Phe48Ser) | |
18 | g.23561383A>T | CA401782128 | NPC1 | c.608T>A (p.Phe203Tyr) n.522T>A c.143T>A (p.Phe48Tyr) | |
18 | g.23561384A>C | CA401782130 | NPC1 | c.607T>G (p.Phe203Val) n.521T>G c.142T>G (p.Phe48Val) | |
18 | g.23561384A>G | CA401782132 | NPC1 | c.607T>C (p.Phe203Leu) n.521T>C c.142T>C (p.Phe48Leu) | |
18 | g.23561384A>T | CA401782134 | NPC1 | c.607T>A (p.Phe203Ile) n.521T>A c.142T>A (p.Phe48Ile) | |
18 | g.23561385A= | CA2290176167 | NPC1 | c.606T= (p.Pro202=) n.520T= c.141T= (p.Pro47=) | |
18 | g.23561385A>C | CA503325337 | NPC1 | c.606T>G (p.Pro202=) n.520T>G c.141T>G (p.Pro47=) | |
18 | g.23561385A>G | CA503325338 | NPC1 | c.606T>C (p.Pro202=) n.520T>C c.141T>C (p.Pro47=) | ClinVar dbSNP |
18 | g.23561385A>T | CA503325339 | NPC1 | c.606T>A (p.Pro202=) n.520T>A c.141T>A (p.Pro47=) | |
18 | g.23561386G>A | CA401782136 | NPC1 | c.605C>T (p.Pro202Leu) n.519C>T c.140C>T (p.Pro47Leu) | |
18 | g.23561386G>C | CA401782139 | NPC1 | c.605C>G (p.Pro202Arg) n.519C>G c.140C>G (p.Pro47Arg) |