Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131858648T>C | CA2680366927 | ENPP1 | c.716-20T>C (n.716-20T>C) c.333-20T>C c.207-20T>C | gnomAD v4 |
6 | g.131858650_131858651delinsTA | CA1664257140 | ENPP1 | c.716-18_716-17delinsTA (n.716-18_716-17delinsTA) c.333-18_333-17delinsTA c.207-18_207-17delinsTA | |
6 | g.131858651del | CA570098173 | ENPP1 | c.716-17del (n.716-17del) c.333-17del c.207-17del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131858651A= | CA1664257144 | ENPP1 | c.716-17A= (n.716-17A=) c.333-17A= c.207-17A= | |
6 | g.131858651A>G | CA819064920 | ENPP1 | c.716-17A>G (n.716-17A>G) c.333-17A>G c.207-17A>G | dbSNP |
6 | g.131858651_131858652delinsAT | CA1664257143 | ENPP1 | c.716-17_716-16delinsAT (n.716-17_716-16delinsAT) c.333-17_333-16delinsAT c.207-17_207-16delinsAT | |
6 | g.131858658dup | CA1094545594 | ENPP1 | c.716-10dup (n.716-10dup) c.333-10dup c.207-10dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.131858658del | CA4001986 | ENPP1 | c.716-10del (n.716-10del) c.333-10del c.207-10del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131858653T>C | CA4001987 | ENPP1 | c.716-15T>C (n.716-15T>C) c.333-15T>C c.207-15T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.131858653T>G | CA2680366928 | ENPP1 | c.716-15T>G (n.716-15T>G) c.333-15T>G c.207-15T>G | gnomAD v4 |
6 | g.131858653T= | CA1664257149 | ENPP1 | c.716-15T= (n.716-15T=) c.333-15T= c.207-15T= | |
6 | g.131858656T>G | CA1664257152 | ENPP1 | c.716-12T>G (n.716-12T>G) c.333-12T>G c.207-12T>G | dbSNP |
6 | g.131858656T= | CA1664257151 | ENPP1 | c.716-12T= (n.716-12T=) c.333-12T= c.207-12T= | |
6 | g.131858657T>C | CA1664257155 | ENPP1 | c.716-11T>C (n.716-11T>C) c.333-11T>C c.207-11T>C | dbSNP |
6 | g.131858657T= | CA1664257154 | ENPP1 | c.716-11T= (n.716-11T=) c.333-11T= c.207-11T= | |
6 | g.131858659C>A | CA2680366929 | ENPP1 | c.716-9C>A (n.716-9C>A) c.333-9C>A c.207-9C>A | gnomAD v4 |
6 | g.131858660C>A | CA2680366930 | ENPP1 | c.716-8C>A (n.716-8C>A) c.333-8C>A c.207-8C>A | gnomAD v4 |
6 | g.131858660C= | CA1664257158 | ENPP1 | c.716-8C= (n.716-8C=) c.333-8C= c.207-8C= | |
6 | g.131858660C>G | CA1094545599 | ENPP1 | c.716-8C>G (n.716-8C>G) c.333-8C>G c.207-8C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131858660C>T | CA4001988 | ENPP1 | c.716-8C>T (n.716-8C>T) c.333-8C>T c.207-8C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131858661C>A | CA2680366931 | ENPP1 | c.716-7C>A (n.716-7C>A) c.333-7C>A c.207-7C>A | gnomAD v4 |
6 | g.131858661C>T | CA2578742840 | ENPP1 | c.716-7C>T (n.716-7C>T) c.333-7C>T c.207-7C>T | dbSNP |
6 | g.131858662T>A | CA147932119 | ENPP1 | c.716-6T>A (n.716-6T>A) c.333-6T>A c.207-6T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131858662T>C | CA452155187 | ENPP1 | c.716-6T>C (n.716-6T>C) c.333-6T>C c.207-6T>C | ClinVar gnomAD v4 |
6 | g.131858662T>G | CA147932127 | ENPP1 | c.716-6T>G (n.716-6T>G) c.333-6T>G c.207-6T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131858662T= | CA1664257161 | ENPP1 | c.716-6T= (n.716-6T=) c.333-6T= c.207-6T= | |
6 | g.131858663del | CA2680366932 | ENPP1 | c.716-5del (n.716-5del) c.333-5del c.207-5del | gnomAD v4 |
6 | g.131858664C>A | CA4001989 | ENPP1 | c.716-4C>A (n.716-4C>A) c.333-4C>A c.207-4C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131858664C= | CA1664257162 | ENPP1 | c.716-4C= (n.716-4C=) c.333-4C= c.207-4C= | |
6 | g.131858664C>G | CA2680366933 | ENPP1 | c.716-4C>G (n.716-4C>G) c.333-4C>G c.207-4C>G | gnomAD v4 |
6 | g.131858666A>C | CA365665865 | ENPP1 | c.716-2A>C (n.716-2A>C) c.333-2A>C c.207-2A>C | |
6 | g.131858666A>G | CA365665857 | ENPP1 | c.716-2A>G (n.716-2A>G) c.333-2A>G c.207-2A>G | dbSNP gnomAD v4 |
6 | g.131858666A>T | CA365665859 | ENPP1 | c.716-2A>T (n.716-2A>T) c.333-2A>T c.207-2A>T | |
6 | g.131858667G>A | CA365665868 | ENPP1 | c.716-1G>A (n.716-1G>A) c.333-1G>A c.207-1G>A | gnomAD v4 |
6 | g.131858667G>C | CA365665871 | ENPP1 | c.716-1G>C (n.716-1G>C) c.333-1G>C c.207-1G>C | |
6 | g.131858667G>T | CA365665875 | ENPP1 | c.716-1G>T (n.716-1G>T) c.333-1G>T c.207-1G>T | |
6 | g.131858668A>C | CA365665880 | ENPP1 | c.716A>C (p.Lys239Thr) c.333A>C c.207A>C | |
6 | g.131858668A>G | CA365665883 | ENPP1 | c.716A>G (p.Lys239Arg) c.333A>G c.207A>G | |
6 | g.131858668A>T | CA365665885 | ENPP1 | c.716A>T (p.Lys239Ile) c.333A>T c.207A>T | |
6 | g.131858672del | CA2578742841 | ENPP1 | c.720del (p.Lys240AsnfsTer9) c.337del c.211del | gnomAD v4 |
6 | g.131858669A>C | CA365665888 | ENPP1 | c.717A>C (p.Lys239Asn) c.334A>C c.208A>C | |
6 | g.131858669A>G | CA452155188 | ENPP1 | c.717A>G (p.Lys239=) c.334A>G c.208A>G | |
6 | g.131858669A>T | CA365665890 | ENPP1 | c.717A>T (p.Lys239Asn) c.334A>T c.208A>T | |
6 | g.131858670A>C | CA365665896 | ENPP1 | c.718A>C (p.Lys240Gln) c.335A>C c.209A>C | |
6 | g.131858670A>G | CA365665899 | ENPP1 | c.718A>G (p.Lys240Glu) c.335A>G c.209A>G | |
6 | g.131858670A>T | CA365665901 | ENPP1 | c.718A>T (p.Lys240Ter) c.335A>T c.209A>T | |
6 | g.131858671A= | CA1664257164 | ENPP1 | c.719A= (p.Lys240=) c.336A= c.210A= | |
6 | g.131858671A>C | CA365665909 | ENPP1 | c.719A>C (p.Lys240Thr) c.336A>C c.210A>C | |
6 | g.131858671A>G | CA4001990 | ENPP1 | c.719A>G (p.Lys240Arg) c.336A>G c.210A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131858671A>T | CA365665906 | ENPP1 | c.719A>T (p.Lys240Ile) c.336A>T c.210A>T |