Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.74486331C>A | CA390532628 | NPC2 | c.188G>T (p.Ser63Ile) c.156G>T (p.Gln52His) c.253G>T | gnomAD v4 |
14 | g.74486331C>G | CA390532630 | NPC2 | c.188G>C (p.Ser63Thr) c.156G>C (p.Gln52His) c.253G>C | |
14 | g.74486331C>T | CA390532629 | NPC2 | c.188G>A (p.Ser63Asn) c.156G>A (p.Gln52=) c.253G>A | gnomAD v4 |
14 | g.74486332T>A | CA390532631 | NPC2 | c.187A>T (p.Ser63Cys) c.155A>T (p.Gln52Leu) c.252A>T | |
14 | g.74486332T>C | CA390532632 | NPC2 | c.187A>G (p.Ser63Gly) c.155A>G (p.Gln52Arg) c.252A>G | |
14 | g.74486332T>G | CA390532633 | NPC2 | c.187A>C (p.Ser63Arg) c.155A>C (p.Gln52Pro) c.252A>C | |
14 | g.74486333G>A | CA487219994 | NPC2 | c.186C>T (p.Thr62=) c.154C>T (p.Gln52Ter) c.251C>T | ClinVar gnomAD v4 |
14 | g.74486333G>C | CA487219998 | NPC2 | c.186C>G (p.Thr62=) c.154C>G (p.Gln52Glu) c.251C>G | |
14 | g.74486333G>T | CA487219996 | NPC2 | c.186C>A (p.Thr62=) c.154C>A (p.Gln52Lys) c.251C>A | |
14 | g.74486334G>A | CA390532634 | NPC2 | c.185C>T (p.Thr62Ile) c.153C>T (p.His51=) c.250C>T | dbSNP gnomAD v4 |
14 | g.74486334G>C | CA390532635 | NPC2 | c.185C>G (p.Thr62Ser) c.153C>G (p.His51Gln) c.250C>G | gnomAD v4 |
14 | g.74486334G= | CA2147067076 | NPC2 | c.185C= (p.Thr62=) c.153C= (p.His51=) c.250C= | |
14 | g.74486334G>T | CA390532636 | NPC2 | c.185C>A (p.Thr62Asn) c.153C>A (p.His51Gln) c.250C>A | |
14 | g.74486335_74486336del | CA2580088729 | NPC2 | c.184_185del (p.Thr62GlnfsTer6) c.152_153del (p.His51ProfsTer?) c.249_250del | ClinVar |
14 | g.74486335T>A | CA390532637 | NPC2 | c.184A>T (p.Thr62Ser) c.152A>T (p.His51Leu) c.249A>T | |
14 | g.74486335T>C | CA7268184 | NPC2 | c.184A>G (p.Thr62Ala) c.152A>G (p.His51Arg) c.249A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74486335T>G | CA390532638 | NPC2 | c.184A>C (p.Thr62Pro) c.152A>C (p.His51Pro) c.249A>C | |
14 | g.74486335T= | CA2147067077 | NPC2 | c.184A= (p.Thr62=) c.152A= (p.His51=) c.249A= | |
14 | g.74486336G>A | CA7268185 | NPC2 | c.183C>T (p.Phe61=) c.151C>T (p.His51Tyr) c.248C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74486336G>C | CA390532639 | NPC2 | c.183C>G (p.Phe61Leu) c.151C>G (p.His51Asp) c.248C>G | |
14 | g.74486336G= | CA2147067078 | NPC2 | c.183C= (p.Phe61=) c.151C= (p.His51=) c.248C= | |
14 | g.74486336G>T | CA390532640 | NPC2 | c.183C>A (p.Phe61Leu) c.151C>A (p.His51Asn) c.248C>A | gnomAD v4 |
14 | g.74486337A>C | CA390532643 | NPC2 | c.182T>G (p.Phe61Cys) c.150T>G (p.Leu50=) c.247T>G | |
14 | g.74486337A>G | CA390532642 | NPC2 | c.182T>C (p.Phe61Ser) c.150T>C (p.Leu50=) c.247T>C | gnomAD v4 |
14 | g.74486337A>T | CA390532641 | NPC2 | c.182T>A (p.Phe61Tyr) c.150T>A (p.Leu50=) c.247T>A | |
14 | g.74486338A>C | CA390532644 | NPC2 | c.181T>G (p.Phe61Val) c.149T>G (p.Leu50Arg) c.246T>G | |
14 | g.74486338A>G | CA390532645 | NPC2 | c.181T>C (p.Phe61Leu) c.149T>C (p.Leu50Pro) c.246T>C | |
14 | g.74486338A>T | CA390532646 | NPC2 | c.181T>A (p.Phe61Ile) c.149T>A (p.Leu50His) c.246T>A | |
14 | g.74486339G>A | CA487220017 | NPC2 | c.180C>T (p.Thr60=) c.148C>T (p.Leu50Phe) c.245C>T | |
14 | g.74486339G>C | CA487220020 | NPC2 | c.180C>G (p.Thr60=) c.148C>G (p.Leu50Val) c.245C>G | dbSNP |
14 | g.74486339G>T | CA487220022 | NPC2 | c.180C>A (p.Thr60=) c.148C>A (p.Leu50Ile) c.245C>A | gnomAD v4 |
14 | g.74486340G>A | CA390532647 | NPC2 | c.179C>T (p.Thr60Ile) c.147C>T (p.His49=) c.244C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74486340G>C | CA390532648 | NPC2 | c.179C>G (p.Thr60Ser) c.147C>G (p.His49Gln) c.244C>G | |
14 | g.74486340G= | CA2147067079 | NPC2 | c.179C= (p.Thr60=) c.147C= (p.His49=) c.244C= | |
14 | g.74486340G>T | CA390532649 | NPC2 | c.179C>A (p.Thr60Asn) c.147C>A (p.His49Gln) c.244C>A | |
14 | g.74486341T>A | CA390532650 | NPC2 | c.178A>T (p.Thr60Ser) c.146A>T (p.His49Leu) c.243A>T | |
14 | g.74486341T>C | CA390532651 | NPC2 | c.178A>G (p.Thr60Ala) c.146A>G (p.His49Arg) c.243A>G | gnomAD v4 |
14 | g.74486341T>G | CA390532652 | NPC2 | c.178A>C (p.Thr60Pro) c.146A>C (p.His49Pro) c.243A>C | gnomAD v4 |
14 | g.74486342G>A | CA487220032 | NPC2 | c.177C>T (p.Val59=) c.145C>T (p.His49Tyr) c.242C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74486342G>C | CA487220031 | NPC2 | c.177C>G (p.Val59=) c.145C>G (p.His49Asp) c.242C>G | gnomAD v4 |
14 | g.74486342G= | CA2147067080 | NPC2 | c.177C= (p.Val59=) c.145C= (p.His49=) c.242C= | |
14 | g.74486342G>T | CA487220030 | NPC2 | c.177C>A (p.Val59=) c.145C>A (p.His49Asn) c.242C>A | |
14 | g.74486343A>C | CA390532653 | NPC2 | c.176T>G (p.Val59Gly) c.144T>G (p.Cys48Trp) c.241T>G | |
14 | g.74486343A>G | CA390532654 | NPC2 | c.176T>C (p.Val59Ala) c.144T>C (p.Cys48=) c.241T>C | gnomAD v4 |
14 | g.74486343A>T | CA390532655 | NPC2 | c.176T>A (p.Val59Asp) c.144T>A (p.Cys48Ter) c.241T>A | |
14 | g.74486344C>A | CA390532656 | NPC2 | c.175G>T (p.Val59Phe) c.143G>T (p.Cys48Phe) c.240G>T | |
14 | g.74486344C>G | CA390532658 | NPC2 | c.175G>C (p.Val59Leu) c.143G>C (p.Cys48Ser) c.240G>C | gnomAD v4 |
14 | g.74486344C>T | CA390532657 | NPC2 | c.175G>A (p.Val59Ile) c.143G>A (p.Cys48Tyr) c.240G>A | gnomAD v4 |
14 | g.74486345A>C | CA390532659 | NPC2 | c.174T>G (p.Asn58Lys) c.142T>G (p.Cys48Gly) c.239T>G | |
14 | g.74486345A>G | CA487220045 | NPC2 | c.174T>C (p.Asn58=) c.142T>C (p.Cys48Arg) c.239T>C | gnomAD v4 |