| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129532581G>A | CA354470274 | RHO | c.745G>A (p.Glu249Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532581G>C | CA354470275 | RHO | c.745G>C (p.Glu249Gln) | |
| 3 | g.129532581G= | CA1401211643 | RHO | c.745G= (p.Glu249=) | |
| 3 | g.129532581G>T | CA122820 | RHO | c.745G>T (p.Glu249Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532582A= | CA1401211649 | RHO | c.746A= (p.Glu249=) | |
| 3 | g.129532582A>C | CA354470276 | RHO | c.746A>C (p.Glu249Ala) | |
| 3 | g.129532582A>G | CA354470277 | RHO | c.746A>G (p.Glu249Gly) | |
| 3 | g.129532582A>T | CA354470278 | RHO | c.746A>T (p.Glu249Val) | dbSNP |
| 3 | g.129532583G>A | CA435769069 | RHO | c.747G>A (p.Glu249=) | dbSNP |
| 3 | g.129532583G>C | CA354470279 | RHO | c.747G>C (p.Glu249Asp) | |
| 3 | g.129532583G>T | CA354470280 | RHO | c.747G>T (p.Glu249Asp) | |
| 3 | g.129532584G>A | CA354470282 | RHO | c.748G>A (p.Val250Ile) | |
| 3 | g.129532584G>C | CA354470283 | RHO | c.748G>C (p.Val250Leu) | |
| 3 | g.129532584G>T | CA354470281 | RHO | c.748G>T (p.Val250Phe) | |
| 3 | g.129532585T>A | CA354470284 | RHO | c.749T>A (p.Val250Asp) | |
| 3 | g.129532585T>C | CA2607280 | RHO | c.749T>C (p.Val250Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532585T>G | CA354470285 | RHO | c.749T>G (p.Val250Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532585T= | CA1401211651 | RHO | c.749T= (p.Val250=) | |
| 3 | g.129532586C>A | CA435769070 | RHO | c.750C>A (p.Val250=) | |
| 3 | g.129532586C>G | CA435769071 | RHO | c.750C>G (p.Val250=) | |
| 3 | g.129532586C>T | CA435769072 | RHO | c.750C>T (p.Val250=) | |
| 3 | g.129532587A>C | CA354470286 | RHO | c.751A>C (p.Thr251Pro) | |
| 3 | g.129532587A>G | CA354470287 | RHO | c.751A>G (p.Thr251Ala) | |
| 3 | g.129532587A>T | CA354470288 | RHO | c.751A>T (p.Thr251Ser) | |
| 3 | g.129532588C>A | CA354470289 | RHO | c.752C>A (p.Thr251Asn) | |
| 3 | g.129532588C= | CA1401211656 | RHO | c.752C= (p.Thr251=) | |
| 3 | g.129532588C>G | CA354470290 | RHO | c.752C>G (p.Thr251Ser) | |
| 3 | g.129532588C>T | CA354470291 | RHO | c.752C>T (p.Thr251Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532590dup | CA2586965918 | RHO | c.754dup (p.Arg252ProfsTer?) | gnomAD v4 |
| 3 | g.129532590del | CA2667617270 | RHO | c.754del (p.Arg252AlafsTer11) | gnomAD v4 |
| 3 | g.129532589C>A | CA435769073 | RHO | c.753C>A (p.Thr251=) | |
| 3 | g.129532589C>G | CA435769074 | RHO | c.753C>G (p.Thr251=) | |
| 3 | g.129532589C>T | CA435769075 | RHO | c.753C>T (p.Thr251=) | gnomAD v4 |
| 3 | g.129532590C>A | CA354470292 | RHO | c.754C>A (p.Arg252Ser) | |
| 3 | g.129532590C= | CA1401211661 | RHO | c.754C= (p.Arg252=) | |
| 3 | g.129532590C>G | CA354470293 | RHO | c.754C>G (p.Arg252Gly) | |
| 3 | g.129532590C>T | CA2607281 | RHO | c.754C>T (p.Arg252Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532591G>A | CA2607282 | RHO | c.755G>A (p.Arg252His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532591G>C | CA2607283 | RHO | c.755G>C (p.Arg252Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532591G= | CA1401211673 | RHO | c.755G= (p.Arg252=) | |
| 3 | g.129532591G>T | CA354470294 | RHO | c.755G>T (p.Arg252Leu) | gnomAD v4 |
| 3 | g.129532591_129532603delinsGCATGGTCATCAT | CA1401211677 | RHO | c.755_767delinsGCATGGTCATCAT (p.Arg252=) | |
| 3 | g.129532592C>A | CA435769076 | RHO | c.756C>A (p.Arg252=) | |
| 3 | g.129532592C>G | CA435769077 | RHO | c.756C>G (p.Arg252=) | |
| 3 | g.129532592C>T | CA435769078 | RHO | c.756C>T (p.Arg252=) | |
| 3 | g.129532602_129532613del | CA1139655829 | RHO | c.766_777del (p.Ile256_Ile259del) | ClinVar dbSNP |
| 3 | g.129532593A= | CA1401211693 | RHO | c.757A= (p.Met253=) | |
| 3 | g.129532593A>C | CA354470295 | RHO | c.757A>C (p.Met253Leu) | |
| 3 | g.129532593A>G | CA354470296 | RHO | c.757A>G (p.Met253Val) | dbSNP gnomAD v4 |
| 3 | g.129532593A>T | CA354470297 | RHO | c.757A>T (p.Met253Leu) |