Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5044798G>A | CA6399687 | KCNA5 | c.651G>A (p.Glu217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044798G>C | CA383464870 | KCNA5 | c.651G>C (p.Glu217Asp) | |
12 | g.5044798G= | CA2013430885 | KCNA5 | c.651G= (p.Glu217=) | |
12 | g.5044798G>T | CA383464869 | KCNA5 | c.651G>T (p.Glu217Asp) | |
12 | g.5044799G>A | CA383464871 | KCNA5 | c.652G>A (p.Gly218Ser) | |
12 | g.5044799G>C | CA383464872 | KCNA5 | c.652G>C (p.Gly218Arg) | |
12 | g.5044799G>T | CA383464873 | KCNA5 | c.652G>T (p.Gly218Cys) | |
12 | g.5044800G>A | CA383464874 | KCNA5 | c.653G>A (p.Gly218Asp) | |
12 | g.5044800G>C | CA383464875 | KCNA5 | c.653G>C (p.Gly218Ala) | |
12 | g.5044800G= | CA2013430886 | KCNA5 | c.653G= (p.Gly218=) | |
12 | g.5044800G>T | CA6399688 | KCNA5 | c.653G>T (p.Gly218Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044801C>A | CA478095162 | KCNA5 | c.654C>A (p.Gly218=) | |
12 | g.5044801C>G | CA478095163 | KCNA5 | c.654C>G (p.Gly218=) | |
12 | g.5044801C>T | CA478095161 | KCNA5 | c.654C>T (p.Gly218=) | |
12 | g.5044802T>A | CA383464876 | KCNA5 | c.655T>A (p.Phe219Ile) | |
12 | g.5044802T>C | CA383464877 | KCNA5 | c.655T>C (p.Phe219Leu) | |
12 | g.5044802T>G | CA383464878 | KCNA5 | c.655T>G (p.Phe219Val) | |
12 | g.5044803T>A | CA383464879 | KCNA5 | c.656T>A (p.Phe219Tyr) | |
12 | g.5044803T>C | CA383464880 | KCNA5 | c.656T>C (p.Phe219Ser) | |
12 | g.5044803T>G | CA383464881 | KCNA5 | c.656T>G (p.Phe219Cys) | |
12 | g.5044804C>A | CA383464883 | KCNA5 | c.657C>A (p.Phe219Leu) | |
12 | g.5044804C= | CA2013430887 | KCNA5 | c.657C= (p.Phe219=) | |
12 | g.5044804C>G | CA383464882 | KCNA5 | c.657C>G (p.Phe219Leu) | |
12 | g.5044804C>T | CA478095165 | KCNA5 | c.657C>T (p.Phe219=) | dbSNP |
12 | g.5044805A= | CA2013430888 | KCNA5 | c.658A= (p.Ile220=) | |
12 | g.5044805A>C | CA383464884 | KCNA5 | c.658A>C (p.Ile220Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044805A>G | CA383464886 | KCNA5 | c.658A>G (p.Ile220Val) | |
12 | g.5044805A>T | CA383464885 | KCNA5 | c.658A>T (p.Ile220Phe) | |
12 | g.5044806T>A | CA383464887 | KCNA5 | c.659T>A (p.Ile220Asn) | |
12 | g.5044806T>C | CA383464888 | KCNA5 | c.659T>C (p.Ile220Thr) | |
12 | g.5044806T>G | CA383464889 | KCNA5 | c.659T>G (p.Ile220Ser) | |
12 | g.5044807T>A | CA478095168 | KCNA5 | c.660T>A (p.Ile220=) | |
12 | g.5044807T>C | CA478095166 | KCNA5 | c.660T>C (p.Ile220=) | dbSNP gnomAD v4 |
12 | g.5044807T>G | CA383464890 | KCNA5 | c.660T>G (p.Ile220Met) | |
12 | g.5044807T= | CA2013430889 | KCNA5 | c.660T= (p.Ile220=) | |
12 | g.5044808A>C | CA383464891 | KCNA5 | c.661A>C (p.Lys221Gln) | |
12 | g.5044808A>G | CA383464892 | KCNA5 | c.661A>G (p.Lys221Glu) | |
12 | g.5044808A>T | CA383464893 | KCNA5 | c.661A>T (p.Lys221Ter) | |
12 | g.5044809A= | CA2013430890 | KCNA5 | c.662A= (p.Lys221=) | |
12 | g.5044809A>C | CA383464894 | KCNA5 | c.662A>C (p.Lys221Thr) | |
12 | g.5044809A>G | CA231867640 | KCNA5 | c.662A>G (p.Lys221Arg) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044809A>T | CA383464895 | KCNA5 | c.662A>T (p.Lys221Ile) | |
12 | g.5044813_5044815del | CA2617209903 | KCNA5 | c.666_668del (p.Glu223del) | gnomAD v4 |
12 | g.5044810A>C | CA383464896 | KCNA5 | c.663A>C (p.Lys221Asn) | |
12 | g.5044810A>G | CA478095169 | KCNA5 | c.663A>G (p.Lys221=) | |
12 | g.5044810A>T | CA383464897 | KCNA5 | c.663A>T (p.Lys221Asn) | |
12 | g.5044811G>A | CA383464900 | KCNA5 | c.664G>A (p.Glu222Lys) | gnomAD v4 |
12 | g.5044811G>C | CA383464898 | KCNA5 | c.664G>C (p.Glu222Gln) | |
12 | g.5044811G>T | CA383464899 | KCNA5 | c.664G>T (p.Glu222Ter) | |
12 | g.5044812A>C | CA383464901 | KCNA5 | c.665A>C (p.Glu222Ala) |