Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532418_129532533del | CA2758361659 | RHO | c.696+2_697del | |
3 | g.129532515G>A | CA2607268 | RHO | c.697-18G>A (n.697-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532515G>C | CA2577961800 | RHO | c.697-18G>C (n.697-18G>C) | |
3 | g.129532515G= | CA1401211517 | RHO | c.697-18G= (n.697-18G=) | |
3 | g.129532516G>A | CA435769033 | RHO | c.697-17G>A (n.697-17G>A) | gnomAD v4 |
3 | g.129532517G>A | CA2667617172 | RHO | c.697-16G>A (n.697-16G>A) | gnomAD v4 |
3 | g.129532518T>A | CA546417835 | RHO | c.697-15T>A (n.697-15T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532518T= | CA1401211519 | RHO | c.697-15T= (n.697-15T=) | |
3 | g.129532520C>T | CA2758361696 | RHO | c.697-13C>T (n.697-13C>T) | |
3 | g.129532521C= | CA1401211521 | RHO | c.697-12C= (n.697-12C=) | |
3 | g.129532521C>G | CA2577961801 | RHO | c.697-12C>G (n.697-12C>G) | gnomAD v4 |
3 | g.129532521C>T | CA2607269 | RHO | c.697-12C>T (n.697-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532522G>A | CA2607270 | RHO | c.697-11G>A (n.697-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532522G= | CA1401211527 | RHO | c.697-11G= (n.697-11G=) | |
3 | g.129532523T>G | CA2577961802 | RHO | c.697-10T>G (n.697-10T>G) | |
3 | g.129532524G>A | CA2577961803 | RHO | c.697-9G>A (n.697-9G>A) | |
3 | g.129532524G>C | CA2667617175 | RHO | c.697-9G>C (n.697-9G>C) | gnomAD v4 |
3 | g.129532525T>C | CA2667617177 | RHO | c.697-8T>C (n.697-8T>C) | gnomAD v4 |
3 | g.129532527C= | CA1401211530 | RHO | c.697-6C= (n.697-6C=) | |
3 | g.129532527C>T | CA82620714 | RHO | c.697-6C>T (n.697-6C>T) | dbSNP gnomAD v4 |
3 | g.129532528T>A | CA2577961804 | RHO | c.697-5T>A (n.697-5T>A) | |
3 | g.129532529G>A | CA1401211533 | RHO | c.697-4G>A (n.697-4G>A) | dbSNP |
3 | g.129532529G= | CA1401211532 | RHO | c.697-4G= (n.697-4G=) | |
3 | g.129532530C>A | CA2573052082 | RHO | c.697-3C>A (n.697-3C>A) | ClinVar dbSNP |
3 | g.129532531A>C | CA354470163 | RHO | c.697-2A>C (n.697-2A>C) | |
3 | g.129532531A>G | CA354470165 | RHO | c.697-2A>G (n.697-2A>G) | |
3 | g.129532531A>T | CA354470164 | RHO | c.697-2A>T (n.697-2A>T) | |
3 | g.129532532G>A | CA354470166 | RHO | c.697-1G>A (n.697-1G>A) | |
3 | g.129532532G>C | CA354470167 | RHO | c.697-1G>C (n.697-1G>C) | |
3 | g.129532532G>T | CA354470168 | RHO | c.697-1G>T (n.697-1G>T) | |
3 | g.129532533G>A | CA354470169 | RHO | c.697G>A (p.Ala233Thr) | COSMIC |
3 | g.129532533G>C | CA354470170 | RHO | c.697G>C (p.Ala233Pro) | |
3 | g.129532533G>T | CA354470171 | RHO | c.697G>T (p.Ala233Ser) | |
3 | g.129532534C>A | CA354470172 | RHO | c.698C>A (p.Ala233Asp) | |
3 | g.129532534C>G | CA354470173 | RHO | c.698C>G (p.Ala233Gly) | |
3 | g.129532534C>T | CA354470174 | RHO | c.698C>T (p.Ala233Val) | gnomAD v4 |
3 | g.129532535C>A | CA435769034 | RHO | c.699C>A (p.Ala233=) | dbSNP |
3 | g.129532535C= | CA1401211537 | RHO | c.699C= (p.Ala233=) | |
3 | g.129532535C>G | CA435769035 | RHO | c.699C>G (p.Ala233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.129532535C>T | CA435769036 | RHO | c.699C>T (p.Ala233=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.129532536G>A | CA2607272 | RHO | c.700G>A (p.Ala234Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532536G>C | CA354470175 | RHO | c.700G>C (p.Ala234Pro) | |
3 | g.129532536G= | CA1401211546 | RHO | c.700G= (p.Ala234=) | |
3 | g.129532536G>T | CA2607271 | RHO | c.700G>T (p.Ala234Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532537C>A | CA354470178 | RHO | c.701C>A (p.Ala234Asp) | |
3 | g.129532537C>G | CA354470176 | RHO | c.701C>G (p.Ala234Gly) | |
3 | g.129532537C>T | CA354470177 | RHO | c.701C>T (p.Ala234Val) | |
3 | g.129532538T>A | CA435769037 | RHO | c.702T>A (p.Ala234=) | |
3 | g.129532538T>C | CA435769038 | RHO | c.702T>C (p.Ala234=) | |
3 | g.129532538T>G | CA435769039 | RHO | c.702T>G (p.Ala234=) |