Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.20638104C>A | CA252277 | PINK1 | c.650C>A (p.Ala217Asp) | ClinVar dbSNP |
1 | g.20638104C= | CA1140886388 | PINK1 | c.650C= (p.Ala217=) | |
1 | g.20638104C>G | CA338857833 | PINK1 | c.650C>G (p.Ala217Gly) | |
1 | g.20638104C>T | CA338857835 | PINK1 | c.650C>T (p.Ala217Val) | |
1 | g.20638105C>A | CA416674745 | PINK1 | c.651C>A (p.Ala217=) | dbSNP |
1 | g.20638105C= | CA1157620798 | PINK1 | c.651C= (p.Ala217=) | |
1 | g.20638105C>G | CA416674747 | PINK1 | c.651C>G (p.Ala217=) | |
1 | g.20638105C>T | CA416674748 | PINK1 | c.651C>T (p.Ala217=) | |
1 | g.20638106A>C | CA338857840 | PINK1 | c.652A>C (p.Ile218Leu) | COSMIC |
1 | g.20638106A>G | CA338857853 | PINK1 | c.652A>G (p.Ile218Val) | |
1 | g.20638106A>T | CA338857860 | PINK1 | c.652A>T (p.Ile218Phe) | |
1 | g.20638107T>A | CA338857864 | PINK1 | c.653T>A (p.Ile218Asn) | |
1 | g.20638107T>C | CA338857867 | PINK1 | c.653T>C (p.Ile218Thr) | |
1 | g.20638107T>G | CA338857869 | PINK1 | c.653T>G (p.Ile218Ser) | |
1 | g.20638108C>A | CA416674750 | PINK1 | c.654C>A (p.Ile218=) | |
1 | g.20638108C= | CA1157620801 | PINK1 | c.654C= (p.Ile218=) | |
1 | g.20638108C>G | CA338857874 | PINK1 | c.654C>G (p.Ile218Met) | |
1 | g.20638108C>T | CA660477 | PINK1 | c.654C>T (p.Ile218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.20638109A>C | CA338857891 | PINK1 | c.655A>C (p.Lys219Gln) | |
1 | g.20638109A>G | CA338857887 | PINK1 | c.655A>G (p.Lys219Glu) | gnomAD v4 |
1 | g.20638109A>T | CA338857884 | PINK1 | c.655A>T (p.Lys219Ter) | |
1 | g.20638110A>C | CA338857899 | PINK1 | c.656A>C (p.Lys219Thr) | |
1 | g.20638110A>G | CA338857895 | PINK1 | c.656A>G (p.Lys219Arg) | |
1 | g.20638110A>T | CA338857897 | PINK1 | c.656A>T (p.Lys219Met) | |
1 | g.20638111G>A | CA416674755 | PINK1 | c.657G>A (p.Lys219=) | dbSNP |
1 | g.20638111G>C | CA338857907 | PINK1 | c.657G>C (p.Lys219Asn) | |
1 | g.20638111G= | CA1157620806 | PINK1 | c.657G= (p.Lys219=) | |
1 | g.20638111G>T | CA338857909 | PINK1 | c.657G>T (p.Lys219Asn) | |
1 | g.20638112A= | CA1148561539 | PINK1 | c.658A= (p.Met220=) | |
1 | g.20638112A>C | CA338857913 | PINK1 | c.658A>C (p.Met220Leu) | |
1 | g.20638112A>G | CA660478 | PINK1 | c.658A>G (p.Met220Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.20638112A>T | CA338857917 | PINK1 | c.658A>T (p.Met220Leu) | |
1 | g.20638113T>A | CA338857918 | PINK1 | c.659T>A (p.Met220Lys) | |
1 | g.20638113T>C | CA338857919 | PINK1 | c.659T>C (p.Met220Thr) | |
1 | g.20638113T>G | CA338857920 | PINK1 | c.659T>G (p.Met220Arg) | |
1 | g.20638114G>A | CA660479 | PINK1 | c.660G>A (p.Met220Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.20638114G>C | CA338857921 | PINK1 | c.660G>C (p.Met220Ile) | |
1 | g.20638114G= | CA1157620811 | PINK1 | c.660G= (p.Met220=) | |
1 | g.20638114G>T | CA338857922 | PINK1 | c.660G>T (p.Met220Ile) | |
1 | g.20638115A= | CA1157620819 | PINK1 | c.661A= (p.Met221=) | |
1 | g.20638115A>C | CA338857924 | PINK1 | c.661A>C (p.Met221Leu) | |
1 | g.20638115A>G | CA18990077 | PINK1 | c.661A>G (p.Met221Val) | dbSNP |
1 | g.20638115A>T | CA338857923 | PINK1 | c.661A>T (p.Met221Leu) | |
1 | g.20638116T>A | CA338857926 | PINK1 | c.662T>A (p.Met221Lys) | |
1 | g.20638116T>C | CA338857928 | PINK1 | c.662T>C (p.Met221Thr) | ClinVar gnomAD v4 |
1 | g.20638116T>G | CA338857931 | PINK1 | c.662T>G (p.Met221Arg) | |
1 | g.20638117G>A | CA338857936 | PINK1 | c.663G>A (p.Met221Ile) | |
1 | g.20638117G>C | CA338857938 | PINK1 | c.663G>C (p.Met221Ile) | |
1 | g.20638117G>T | CA338857940 | PINK1 | c.663G>T (p.Met221Ile) | |
1 | g.20638118T>A | CA338857942 | PINK1 | c.664T>A (p.Trp222Arg) |