UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 3 | g.129532539G>A | CA354470179 | RHO | c.703G>A (p.Ala235Thr) | ClinVar dbSNP |
| 3 | g.129532539G>C | CA354470180 | RHO | c.703G>C (p.Ala235Pro) | |
| 3 | g.129532539G>T | CA354470181 | RHO | c.703G>T (p.Ala235Ser) | |
| 3 | g.129532540C>A | CA354470182 | RHO | c.704C>A (p.Ala235Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532540C= | CA1401211552 | RHO | c.704C= (p.Ala235=) | |
| 3 | g.129532540C>G | CA354470183 | RHO | c.704C>G (p.Ala235Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532540C>T | CA354470184 | RHO | c.704C>T (p.Ala235Val) | |
| 3 | g.129532541C>A | CA435769040 | RHO | c.705C>A (p.Ala235=) | |
| 3 | g.129532541C>G | CA435769041 | RHO | c.705C>G (p.Ala235=) | |
| 3 | g.129532541C>T | CA435769042 | RHO | c.705C>T (p.Ala235=) | |
| 3 | g.129532542C>A | CA354470185 | RHO | c.706C>A (p.Gln236Lys) | ClinVar gnomAD v4 |
| 3 | g.129532542C>G | CA354470186 | RHO | c.706C>G (p.Gln236Glu) | |
| 3 | g.129532542C>T | CA354470187 | RHO | c.706C>T (p.Gln236Ter) | |
| 3 | g.129532543A>C | CA354470188 | RHO | c.707A>C (p.Gln236Pro) | |
| 3 | g.129532543A>G | CA354470189 | RHO | c.707A>G (p.Gln236Arg) | |
| 3 | g.129532543A>T | CA354470190 | RHO | c.707A>T (p.Gln236Leu) | |
| 3 | g.129532544G>A | CA435769043 | RHO | c.708G>A (p.Gln236=) | |
| 3 | g.129532544G>C | CA354470192 | RHO | c.708G>C (p.Gln236His) | |
| 3 | g.129532544G>T | CA354470191 | RHO | c.708G>T (p.Gln236His) | |
| 3 | g.129532545C>A | CA354470193 | RHO | c.709C>A (p.Gln237Lys) | |
| 3 | g.129532545C>G | CA354470195 | RHO | c.709C>G (p.Gln237Glu) | gnomAD v4 |
| 3 | g.129532545C>T | CA354470194 | RHO | c.709C>T (p.Gln237Ter) | gnomAD v4 |
| 3 | g.129532546A= | CA1401211560 | RHO | c.710A= (p.Gln237=) | |
| 3 | g.129532546A>C | CA354470196 | RHO | c.710A>C (p.Gln237Pro) | |
| 3 | g.129532546A>G | CA354470197 | RHO | c.710A>G (p.Gln237Arg) | |
| 3 | g.129532546A>T | CA2607273 | RHO | c.710A>T (p.Gln237Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532547G>A | CA2607274 | RHO | c.711G>A (p.Gln237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532547G>C | CA354470198 | RHO | c.711G>C (p.Gln237His) | |
| 3 | g.129532547G= | CA1401211567 | RHO | c.711G= (p.Gln237=) | |
| 3 | g.129532547G>T | CA82620740 | RHO | c.711G>T (p.Gln237His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532548C>A | CA354470199 | RHO | c.712C>A (p.Gln238Lys) | |
| 3 | g.129532548C>G | CA354470200 | RHO | c.712C>G (p.Gln238Glu) | |
| 3 | g.129532548C>T | CA354470201 | RHO | c.712C>T (p.Gln238Ter) | |
| 3 | g.129532549A>C | CA354470202 | RHO | c.713A>C (p.Gln238Pro) | |
| 3 | g.129532549A>G | CA354470203 | RHO | c.713A>G (p.Gln238Arg) | |
| 3 | g.129532549A>T | CA354470204 | RHO | c.713A>T (p.Gln238Leu) | |
| 3 | g.129532549_129532553del | CA2667617212 | RHO | c.713_717del (p.Gln238LeufsTer?) | gnomAD v4 |
| 3 | g.129532550G>A | CA435769050 | RHO | c.714G>A (p.Gln238=) | dbSNP |
| 3 | g.129532550G>C | CA354470206 | RHO | c.714G>C (p.Gln238His) | |
| 3 | g.129532550G= | CA1401211571 | RHO | c.714G= (p.Gln238=) | |
| 3 | g.129532550G>T | CA354470205 | RHO | c.714G>T (p.Gln238His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532551G>A | CA354470207 | RHO | c.715G>A (p.Glu239Lys) | |
| 3 | g.129532551G>C | CA354470208 | RHO | c.715G>C (p.Glu239Gln) | dbSNP |
| 3 | g.129532551G= | CA1401211573 | RHO | c.715G= (p.Glu239=) | |
| 3 | g.129532551G>T | CA354470209 | RHO | c.715G>T (p.Glu239Ter) | |
| 3 | g.129532552A= | CA1401211576 | RHO | c.716A= (p.Glu239=) | |
| 3 | g.129532552A>C | CA354470210 | RHO | c.716A>C (p.Glu239Ala) | dbSNP |
| 3 | g.129532552A>G | CA354470211 | RHO | c.716A>G (p.Glu239Gly) | dbSNP |
| 3 | g.129532552A>T | CA354470212 | RHO | c.716A>T (p.Glu239Val) | |
| 3 | g.129532553G>A | CA435769051 | RHO | c.717G>A (p.Glu239=) | |
| 3 | g.129532553G>C | CA354470214 | RHO | c.717G>C (p.Glu239Asp) | |
| 3 | g.129532553G>T | CA354470213 | RHO | c.717G>T (p.Glu239Asp) | |
| 3 | g.129532554T>A | CA354470215 | RHO | c.718T>A (p.Ser240Thr) | |
| 3 | g.129532554T>C | CA354470216 | RHO | c.718T>C (p.Ser240Pro) | |
| 3 | g.129532554T>G | CA354470217 | RHO | c.718T>G (p.Ser240Ala) | |
| 3 | g.129532555C>A | CA354470218 | RHO | c.719C>A (p.Ser240Ter) | |
| 3 | g.129532555C= | CA1401211580 | RHO | c.719C= (p.Ser240=) | |
| 3 | g.129532555C>G | CA354470219 | RHO | c.719C>G (p.Ser240Ter) | |
| 3 | g.129532555C>T | CA354470220 | RHO | c.719C>T (p.Ser240Leu) | dbSNP gnomAD v4 |
| 3 | g.129532556A>C | CA435769052 | RHO | c.720A>C (p.Ser240=) | |
| 3 | g.129532556A>G | CA435769053 | RHO | c.720A>G (p.Ser240=) | dbSNP |
| 3 | g.129532556A>T | CA435769054 | RHO | c.720A>T (p.Ser240=) | |
| 3 | g.129532557G>A | CA354470221 | RHO | c.721G>A (p.Ala241Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532557G>C | CA354470223 | RHO | c.721G>C (p.Ala241Pro) | |
| 3 | g.129532557G= | CA1401211588 | RHO | c.721G= (p.Ala241=) | |
| 3 | g.129532557G>T | CA354470222 | RHO | c.721G>T (p.Ala241Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532558C>A | CA354470224 | RHO | c.722C>A (p.Ala241Asp) | |
| 3 | g.129532558C>G | CA354470225 | RHO | c.722C>G (p.Ala241Gly) | |
| 3 | g.129532558C>T | CA354470226 | RHO | c.722C>T (p.Ala241Val) | |
| 3 | g.129532559C>A | CA435769055 | RHO | c.723C>A (p.Ala241=) | |
| 3 | g.129532559C>G | CA435769056 | RHO | c.723C>G (p.Ala241=) | |
| 3 | g.129532559C>T | CA435769057 | RHO | c.723C>T (p.Ala241=) | |
| 3 | g.129532560A>C | CA354470227 | RHO | c.724A>C (p.Thr242Pro) | |
| 3 | g.129532560A>G | CA354470228 | RHO | c.724A>G (p.Thr242Ala) | |
| 3 | g.129532560A>T | CA354470229 | RHO | c.724A>T (p.Thr242Ser) | |
| 3 | g.129532561C>A | CA354470230 | RHO | c.725C>A (p.Thr242Asn) | |
| 3 | g.129532561C= | CA1401211595 | RHO | c.725C= (p.Thr242=) | |
| 3 | g.129532561C>G | CA2607275 | RHO | c.725C>G (p.Thr242Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532561C>T | CA354470231 | RHO | c.725C>T (p.Thr242Ile) | dbSNP |
| 3 | g.129532562C>A | CA435769058 | RHO | c.726C>A (p.Thr242=) | |
| 3 | g.129532562C>G | CA435769059 | RHO | c.726C>G (p.Thr242=) | |
| 3 | g.129532562C>T | CA435769060 | RHO | c.726C>T (p.Thr242=) | |
| 3 | g.129532563A>C | CA354470232 | RHO | c.727A>C (p.Thr243Pro) | |
| 3 | g.129532563A>G | CA354470233 | RHO | c.727A>G (p.Thr243Ala) | |
| 3 | g.129532563A>T | CA354470234 | RHO | c.727A>T (p.Thr243Ser) | |
| 3 | g.129532564C>A | CA354470237 | RHO | c.728C>A (p.Thr243Lys) | |
| 3 | g.129532564C>G | CA354470236 | RHO | c.728C>G (p.Thr243Arg) | |
| 3 | g.129532564C>T | CA354470235 | RHO | c.728C>T (p.Thr243Ile) | |
| 3 | g.129532565A>C | CA435769061 | RHO | c.729A>C (p.Thr243=) | |
| 3 | g.129532565A>G | CA435769062 | RHO | c.729A>G (p.Thr243=) | |
| 3 | g.129532565A>T | CA435769063 | RHO | c.729A>T (p.Thr243=) | dbSNP |
| 3 | g.129532566C>A | CA354470238 | RHO | c.730C>A (p.Gln244Lys) | |
| 3 | g.129532566C= | CA1401211605 | RHO | c.730C= (p.Gln244=) | |
| 3 | g.129532566C>G | CA354470239 | RHO | c.730C>G (p.Gln244Glu) | |
| 3 | g.129532566C>T | CA354470240 | RHO | c.730C>T (p.Gln244Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532567A>C | CA354470241 | RHO | c.731A>C (p.Gln244Pro) | |
| 3 | g.129532567A>G | CA354470242 | RHO | c.731A>G (p.Gln244Arg) | |
| 3 | g.129532567A>T | CA354470243 | RHO | c.731A>T (p.Gln244Leu) | |
| 3 | g.129532568G>A | CA2607276 | RHO | c.732G>A (p.Gln244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532568G>C | CA354470244 | RHO | c.732G>C (p.Gln244His) | dbSNP gnomAD v4 |
| 3 | g.129532568G= | CA1401211610 | RHO | c.732G= (p.Gln244=) | |
| 3 | g.129532568G>T | CA354470245 | RHO | c.732G>T (p.Gln244His) | |
| 3 | g.129532569A= | CA1401211619 | RHO | c.733A= (p.Lys245=) | |
| 3 | g.129532569A>C | CA354470246 | RHO | c.733A>C (p.Lys245Gln) | |
| 3 | g.129532569A>G | CA2607277 | RHO | c.733A>G (p.Lys245Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532569A>T | CA354470247 | RHO | c.733A>T (p.Lys245Ter) | |
| 3 | g.129532570A>C | CA354470248 | RHO | c.734A>C (p.Lys245Thr) | |
| 3 | g.129532570A>G | CA354470250 | RHO | c.734A>G (p.Lys245Arg) | |
| 3 | g.129532570A>T | CA354470249 | RHO | c.734A>T (p.Lys245Met) | |
| 3 | g.129532571G>A | CA435769064 | RHO | c.735G>A (p.Lys245=) | |
| 3 | g.129532571G>C | CA354470251 | RHO | c.735G>C (p.Lys245Asn) | |
| 3 | g.129532571G>T | CA354470252 | RHO | c.735G>T (p.Lys245Asn) | |
| 3 | g.129532572G>A | CA354470253 | RHO | c.736G>A (p.Ala246Thr) | |
| 3 | g.129532572G>C | CA354470255 | RHO | c.736G>C (p.Ala246Pro) | |
| 3 | g.129532572G= | CA1401211622 | RHO | c.736G= (p.Ala246=) | |
| 3 | g.129532572G>T | CA354470254 | RHO | c.736G>T (p.Ala246Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532573C>A | CA354470256 | RHO | c.737C>A (p.Ala246Glu) | gnomAD v4 |
| 3 | g.129532573C>G | CA354470258 | RHO | c.737C>G (p.Ala246Gly) | gnomAD v4 |
| 3 | g.129532573C>T | CA354470257 | RHO | c.737C>T (p.Ala246Val) | |
| 3 | g.129532574A>C | CA435769065 | RHO | c.738A>C (p.Ala246=) | |
| 3 | g.129532574A>G | CA435769066 | RHO | c.738A>G (p.Ala246=) | |
| 3 | g.129532574A>T | CA435769067 | RHO | c.738A>T (p.Ala246=) | |
| 3 | g.129532575G>A | CA354470259 | RHO | c.739G>A (p.Glu247Lys) | ClinVar dbSNP |
| 3 | g.129532575G>C | CA354470261 | RHO | c.739G>C (p.Glu247Gln) | |
| 3 | g.129532575G= | CA1401211626 | RHO | c.739G= (p.Glu247=) | |
| 3 | g.129532575G>T | CA354470260 | RHO | c.739G>T (p.Glu247Ter) | |
| 3 | g.129532576A>C | CA354470262 | RHO | c.740A>C (p.Glu247Ala) | |
| 3 | g.129532576A>G | CA354470263 | RHO | c.740A>G (p.Glu247Gly) | |
| 3 | g.129532576A>T | CA354470264 | RHO | c.740A>T (p.Glu247Val) | |
| 3 | g.129532577G>A | CA435769068 | RHO | c.741G>A (p.Glu247=) | |
| 3 | g.129532577G>C | CA354470265 | RHO | c.741G>C (p.Glu247Asp) | |
| 3 | g.129532577G>T | CA354470266 | RHO | c.741G>T (p.Glu247Asp) | |
| 3 | g.129532578A>C | CA354470267 | RHO | c.742A>C (p.Lys248Gln) | |
| 3 | g.129532578A>G | CA354470268 | RHO | c.742A>G (p.Lys248Glu) | |
| 3 | g.129532578A>T | CA354470269 | RHO | c.742A>T (p.Lys248Ter) | gnomAD v4 |
| 3 | g.129532579del | CA2667617247 | RHO | c.743del (p.Lys248ArgfsTer15) | gnomAD v4 |
| 3 | g.129532579A>C | CA354470270 | RHO | c.743A>C (p.Lys248Thr) | |
| 3 | g.129532579A>G | CA354470271 | RHO | c.743A>G (p.Lys248Arg) | |
| 3 | g.129532579A>T | CA354470272 | RHO | c.743A>T (p.Lys248Met) | |
| 3 | g.129532580G>A | CA2607278 | RHO | c.744G>A (p.Lys248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532580G>C | CA354470273 | RHO | c.744G>C (p.Lys248Asn) | |
| 3 | g.129532580G= | CA1401211631 | RHO | c.744G= (p.Lys248=) | |
| 3 | g.129532580G>T | CA2607279 | RHO | c.744G>T (p.Lys248Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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) | |
| 3 | g.129532594T>A | CA354470298 | RHO | c.758T>A (p.Met253Lys) | |
| 3 | g.129532594T>C | CA354470299 | RHO | c.758T>C (p.Met253Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532594T>G | CA354470300 | RHO | c.758T>G (p.Met253Arg) | |
| 3 | g.129532594T= | CA1401211696 | RHO | c.758T= (p.Met253=) | |
| 3 | g.129532595G>A | CA354470301 | RHO | c.759G>A (p.Met253Ile) | |
| 3 | g.129532595G>C | CA354470302 | RHO | c.759G>C (p.Met253Ile) | |
| 3 | g.129532595G= | CA1401211704 | RHO | c.759G= (p.Met253=) | |
| 3 | g.129532595G>T | CA2607284 | RHO | c.759G>T (p.Met253Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532595_129532597delinsGGT | CA1401211705 | RHO | c.759_761delinsGGT (p.Met253=) | |
| 3 | g.129532596G>A | CA354470303 | RHO | c.760G>A (p.Val254Ile) | |
| 3 | g.129532596G>C | CA354470304 | RHO | c.760G>C (p.Val254Leu) | |
| 3 | g.129532596G>T | CA354470305 | RHO | c.760G>T (p.Val254Phe) | |
| 3 | g.129532596_129532597del | CA546417836 | RHO | c.760_761del (p.Val254HisfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532596_129532598dup | CA2573136493 | RHO | c.760_762dup (p.Val254_Ile255insVal) | ClinVar dbSNP |
| 3 | g.129532596_129532599delinsGTCA | CA1401211711 | RHO | c.760_763delinsGTCA (p.Val254=) | |
| 3 | g.129532597T>A | CA354470307 | RHO | c.761T>A (p.Val254Asp) | |
| 3 | g.129532597T>C | CA354470308 | RHO | c.761T>C (p.Val254Ala) | gnomAD v4 |
| 3 | g.129532597T>G | CA354470306 | RHO | c.761T>G (p.Val254Gly) | |
| 3 | g.129532604_129532606del | CA658796376 | RHO | c.768_770del (p.Ile256del) | ClinVar dbSNP |
| 3 | g.129532598C>A | CA435769079 | RHO | c.762C>A (p.Val254=) | gnomAD v4 |
| 3 | g.129532598C>G | CA435769080 | RHO | c.762C>G (p.Val254=) | |
| 3 | g.129532598C>T | CA435769081 | RHO | c.762C>T (p.Val254=) | dbSNP |
| 3 | g.129532599A= | CA1401211724 | RHO | c.763A= (p.Ile255=) | |
| 3 | g.129532599A>C | CA354470309 | RHO | c.763A>C (p.Ile255Leu) | |
| 3 | g.129532599A>G | CA354470310 | RHO | c.763A>G (p.Ile255Val) | dbSNP gnomAD v4 |
| 3 | g.129532599A>T | CA354470311 | RHO | c.763A>T (p.Ile255Phe) | |
| 3 | g.129532600T>A | CA354470312 | RHO | c.764T>A (p.Ile255Asn) | |
| 3 | g.129532600T>C | CA354470313 | RHO | c.764T>C (p.Ile255Thr) | |
| 3 | g.129532600T>G | CA354470314 | RHO | c.764T>G (p.Ile255Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532600T= | CA1401211730 | RHO | c.764T= (p.Ile255=) | |
| 3 | g.129532605_129532613dup | CA1401211728 | RHO | c.769_777dup (p.Ile259_Ala260insMetValIle) | ClinVar dbSNP |
| 3 | g.129532601C>A | CA435769082 | RHO | c.765C>A (p.Ile255=) | |
| 3 | g.129532601C= | CA1401211732 | RHO | c.765C= (p.Ile255=) | |
| 3 | g.129532601C>G | CA354470315 | RHO | c.765C>G (p.Ile255Met) | |
| 3 | g.129532601C>T | CA435769083 | RHO | c.765C>T (p.Ile255=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532602A= | CA1401211734 | RHO | c.766A= (p.Ile256=) | |
| 3 | g.129532602A>C | CA354470316 | RHO | c.766A>C (p.Ile256Leu) | |
| 3 | g.129532602A>G | CA2607285 | RHO | c.766A>G (p.Ile256Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532602A>T | CA354470317 | RHO | c.766A>T (p.Ile256Phe) | |
| 3 | g.129532603T>A | CA354470318 | RHO | c.767T>A (p.Ile256Asn) | gnomAD v4 |
| 3 | g.129532603T>C | CA354470319 | RHO | c.767T>C (p.Ile256Thr) | |
| 3 | g.129532603T>G | CA354470320 | RHO | c.767T>G (p.Ile256Ser) | |
| 3 | g.129532604C>A | CA435769084 | RHO | c.768C>A (p.Ile256=) | |
| 3 | g.129532604C>G | CA354470321 | RHO | c.768C>G (p.Ile256Met) | |
| 3 | g.129532604C>T | CA435769085 | RHO | c.768C>T (p.Ile256=) | |
| 3 | g.129532605A= | CA1401211736 | RHO | c.769A= (p.Met257=) | |
| 3 | g.129532605A>C | CA354470322 | RHO | c.769A>C (p.Met257Leu) | |
| 3 | g.129532605A>G | CA354470324 | RHO | c.769A>G (p.Met257Val) | dbSNP gnomAD v4 |
| 3 | g.129532605A>T | CA354470323 | RHO | c.769A>T (p.Met257Leu) | |
| 3 | g.129532606T>A | CA354470325 | RHO | c.770T>A (p.Met257Lys) | |
| 3 | g.129532606T>C | CA354470326 | RHO | c.770T>C (p.Met257Thr) | |
| 3 | g.129532606T>G | CA354470327 | RHO | c.770T>G (p.Met257Arg) | |
| 3 | g.129532607G>A | CA354470328 | RHO | c.771G>A (p.Met257Ile) | |
| 3 | g.129532607G>C | CA354470329 | RHO | c.771G>C (p.Met257Ile) | |
| 3 | g.129532607G>T | CA354470330 | RHO | c.771G>T (p.Met257Ile) | |
| 3 | g.129532608G>A | CA354470331 | RHO | c.772G>A (p.Val258Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532608G>C | CA354470332 | RHO | c.772G>C (p.Val258Leu) | |
| 3 | g.129532608G= | CA1401211739 | RHO | c.772G= (p.Val258=) | |
| 3 | g.129532608G>T | CA354470333 | RHO | c.772G>T (p.Val258Phe) | COSMIC |
| 3 | g.129532609T>A | CA354470334 | RHO | c.773T>A (p.Val258Asp) | |
| 3 | g.129532609T>C | CA354470335 | RHO | c.773T>C (p.Val258Ala) | |
| 3 | g.129532609T>G | CA354470336 | RHO | c.773T>G (p.Val258Gly) | |
| 3 | g.129532610C>A | CA435769086 | RHO | c.774C>A (p.Val258=) | |
| 3 | g.129532610C>G | CA435769087 | RHO | c.774C>G (p.Val258=) | |
| 3 | g.129532610C>T | CA435769088 | RHO | c.774C>T (p.Val258=) | gnomAD v4 |
| 3 | g.129532610_129532622delinsCATCGCTTTCCTG | CA1401211743 | RHO | c.774_786delinsCATCGCTTTCCTG (p.Val258=) | |
| 3 | g.129532611A>C | CA354470337 | RHO | c.775A>C (p.Ile259Leu) | |
| 3 | g.129532611A>G | CA354470339 | RHO | c.775A>G (p.Ile259Val) | |
| 3 | g.129532611A>T | CA354470338 | RHO | c.775A>T (p.Ile259Phe) | |
| 3 | g.129532614_129532625del | CA1139655830 | RHO | c.778_789del (p.Ala260_Ile263del) | ClinVar dbSNP |
| 3 | g.129532612T>A | CA354470340 | RHO | c.776T>A (p.Ile259Asn) | |
| 3 | g.129532612T>C | CA354470341 | RHO | c.776T>C (p.Ile259Thr) | |
| 3 | g.129532612T>G | CA354470342 | RHO | c.776T>G (p.Ile259Ser) | |
| 3 | g.129532613C>A | CA435769089 | RHO | c.777C>A (p.Ile259=) | |
| 3 | g.129532613C= | CA1401211750 | RHO | c.777C= (p.Ile259=) | |
| 3 | g.129532613C>G | CA354470343 | RHO | c.777C>G (p.Ile259Met) | |
| 3 | g.129532613C>T | CA2607286 | RHO | c.777C>T (p.Ile259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532614_129532615del | CA2704003223 | RHO | c.778_779del (p.Ala260PhefsTer?) | dbSNP |
| 3 | g.129532614G>A | CA2607287 | RHO | c.778G>A (p.Ala260Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532614G>C | CA354470344 | RHO | c.778G>C (p.Ala260Pro) | |
| 3 | g.129532614G= | CA1401211756 | RHO | c.778G= (p.Ala260=) | |
| 3 | g.129532614G>T | CA354470345 | RHO | c.778G>T (p.Ala260Ser) | |
| 3 | g.129532615C>A | CA354470346 | RHO | c.779C>A (p.Ala260Asp) | |
| 3 | g.129532615C>G | CA354470347 | RHO | c.779C>G (p.Ala260Gly) | gnomAD v4 |
| 3 | g.129532615C>T | CA354470348 | RHO | c.779C>T (p.Ala260Val) | COSMIC |
| 3 | g.129532615_129532616del | CA2573136494 | RHO | c.779_780del (p.Ala260ValfsTer?) | ClinVar dbSNP |
| 3 | g.129532616T>A | CA435769090 | RHO | c.780T>A (p.Ala260=) | |
| 3 | g.129532616T>C | CA435769091 | RHO | c.780T>C (p.Ala260=) | dbSNP |
| 3 | g.129532616T>G | CA435769092 | RHO | c.780T>G (p.Ala260=) | |
| 3 | g.129532616T= | CA1401211759 | RHO | c.780T= (p.Ala260=) | |
| 3 | g.129532617T>A | CA354470351 | RHO | c.781T>A (p.Phe261Ile) | |
| 3 | g.129532617T>C | CA354470350 | RHO | c.781T>C (p.Phe261Leu) | ClinVar dbSNP |
| 3 | g.129532617T>G | CA354470349 | RHO | c.781T>G (p.Phe261Val) | |
| 3 | g.129532617_129532618insCT | CA2704003286 | RHO | c.781_782insCT (p.Phe261SerfsTer3) | dbSNP |
| 3 | g.129532618T>A | CA354470352 | RHO | c.782T>A (p.Phe261Tyr) | |
| 3 | g.129532618T>C | CA354470353 | RHO | c.782T>C (p.Phe261Ser) | |
| 3 | g.129532618T>G | CA354470354 | RHO | c.782T>G (p.Phe261Cys) | |
| 3 | g.129532619C>A | CA2607288 | RHO | c.783C>A (p.Phe261Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532619C= | CA1401211762 | RHO | c.783C= (p.Phe261=) | |
| 3 | g.129532619C>G | CA354470355 | RHO | c.783C>G (p.Phe261Leu) | |
| 3 | g.129532619C>T | CA435769093 | RHO | c.783C>T (p.Phe261=) | dbSNP |
| 3 | g.129532620C>A | CA354470356 | RHO | c.784C>A (p.Leu262Met) | |
| 3 | g.129532620C= | CA1401211766 | RHO | c.784C= (p.Leu262=) | |
| 3 | g.129532620C>G | CA354470357 | RHO | c.784C>G (p.Leu262Val) | |
| 3 | g.129532620C>T | CA435769094 | RHO | c.784C>T (p.Leu262=) | dbSNP gnomAD v2 |
| 3 | g.129532621T>A | CA354470358 | RHO | c.785T>A (p.Leu262Gln) | |
| 3 | g.129532621T>C | CA354470359 | RHO | c.785T>C (p.Leu262Pro) | |
| 3 | g.129532621T>G | CA354470360 | RHO | c.785T>G (p.Leu262Arg) | |
| 3 | g.129532622G>A | CA435769095 | RHO | c.786G>A (p.Leu262=) | |
| 3 | g.129532622G>C | CA435769096 | RHO | c.786G>C (p.Leu262=) | |
| 3 | g.129532622G>T | CA435769097 | RHO | c.786G>T (p.Leu262=) | |
| 3 | g.129532623A>C | CA354470361 | RHO | c.787A>C (p.Ile263Leu) | |
| 3 | g.129532623A>G | CA354470362 | RHO | c.787A>G (p.Ile263Val) | gnomAD v4 |
| 3 | g.129532623A>T | CA354470363 | RHO | c.787A>T (p.Ile263Phe) | |
| 3 | g.129532624T>A | CA354470365 | RHO | c.788T>A (p.Ile263Asn) | |
| 3 | g.129532624T>C | CA354470366 | RHO | c.788T>C (p.Ile263Thr) | gnomAD v4 |
| 3 | g.129532624T>G | CA354470364 | RHO | c.788T>G (p.Ile263Ser) | |
| 3 | g.129532624_129532627delinsTCTG | CA1401211771 | RHO | c.788_791delinsTCTG (p.Ile263=) | |
| 3 | g.129532625C>A | CA435769098 | RHO | c.789C>A (p.Ile263=) | |
| 3 | g.129532625C>G | CA354470367 | RHO | c.789C>G (p.Ile263Met) | |
| 3 | g.129532625C>T | CA435769099 | RHO | c.789C>T (p.Ile263=) | |
| 3 | g.129532628_129532630del | CA256691 | RHO | c.792_794del (p.Cys264del) | ClinVar dbSNP |
| 3 | g.129532626T>A | CA354470368 | RHO | c.790T>A (p.Cys264Ser) | |
| 3 | g.129532626T>C | CA354470369 | RHO | c.790T>C (p.Cys264Arg) | |
| 3 | g.129532626T>G | CA354470370 | RHO | c.790T>G (p.Cys264Gly) | |
| 3 | g.129532627G>A | CA354470371 | RHO | c.791G>A (p.Cys264Tyr) | |
| 3 | g.129532627G>C | CA354470372 | RHO | c.791G>C (p.Cys264Ser) | |
| 3 | g.129532627G>T | CA354470373 | RHO | c.791G>T (p.Cys264Phe) | |
| 3 | g.129532628C>A | CA354470375 | RHO | c.792C>A (p.Cys264Ter) | |
| 3 | g.129532628C>G | CA354470374 | RHO | c.792C>G (p.Cys264Trp) | |
| 3 | g.129532628C>T | CA435769100 | RHO | c.792C>T (p.Cys264=) | |
| 3 | g.129532629T>A | CA354470376 | RHO | c.793T>A (p.Trp265Arg) | |
| 3 | g.129532629T>C | CA354470377 | RHO | c.793T>C (p.Trp265Arg) | |
| 3 | g.129532629T>G | CA354470378 | RHO | c.793T>G (p.Trp265Gly) | |
| 3 | g.129532630G>A | CA354470379 | RHO | c.794G>A (p.Trp265Ter) | |
| 3 | g.129532630G>C | CA354470380 | RHO | c.794G>C (p.Trp265Ser) | |
| 3 | g.129532630G>T | CA354470381 | RHO | c.794G>T (p.Trp265Leu) | |
| 3 | g.129532631G>A | CA354470382 | RHO | c.795G>A (p.Trp265Ter) | |
| 3 | g.129532631G>C | CA354470384 | RHO | c.795G>C (p.Trp265Cys) | |
| 3 | g.129532631G>T | CA354470383 | RHO | c.795G>T (p.Trp265Cys) | |
| 3 | g.129532632G>A | CA354470385 | RHO | c.796G>A (p.Val266Met) | dbSNP gnomAD v4 |
| 3 | g.129532632G>C | CA354470386 | RHO | c.796G>C (p.Val266Leu) | dbSNP |
| 3 | g.129532632G= | CA1401211784 | RHO | c.796G= (p.Val266=) | |
| 3 | g.129532632G>T | CA354470387 | RHO | c.796G>T (p.Val266Leu) | gnomAD v4 |
| 3 | g.129532633T>A | CA354470388 | RHO | c.797T>A (p.Val266Glu) | |
| 3 | g.129532633T>C | CA354470389 | RHO | c.797T>C (p.Val266Ala) | |
| 3 | g.129532633T>G | CA354470390 | RHO | c.797T>G (p.Val266Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532633T= | CA1401211788 | RHO | c.797T= (p.Val266=) | |
| 3 | g.129532634G>A | CA435769101 | RHO | c.798G>A (p.Val266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532634G>C | CA435769102 | RHO | c.798G>C (p.Val266=) | |
| 3 | g.129532634G= | CA1401211792 | RHO | c.798G= (p.Val266=) | |
| 3 | g.129532634G>T | CA435769103 | RHO | c.798G>T (p.Val266=) | dbSNP |
| 3 | g.129532635C>A | CA354470391 | RHO | c.799C>A (p.Pro267Thr) | ClinVar dbSNP |
| 3 | g.129532635C= | CA1401211799 | RHO | c.799C= (p.Pro267=) | |
| 3 | g.129532635C>G | CA354470392 | RHO | c.799C>G (p.Pro267Ala) | |
| 3 | g.129532635C>T | CA354470393 | RHO | c.799C>T (p.Pro267Ser) | |
| 3 | g.129532636C>A | CA354470394 | RHO | c.800C>A (p.Pro267His) | |
| 3 | g.129532636C= | CA1401211805 | RHO | c.800C= (p.Pro267=) | |
| 3 | g.129532636C>G | CA354470395 | RHO | c.800C>G (p.Pro267Arg) | |
| 3 | g.129532636C>T | CA256680 | RHO | c.800C>T (p.Pro267Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129532637C>A | CA435769107 | RHO | c.801C>A (p.Pro267=) | |
| 3 | g.129532637C= | CA1401211810 | RHO | c.801C= (p.Pro267=) | |
| 3 | g.129532637C>G | CA435769108 | RHO | c.801C>G (p.Pro267=) | |
| 3 | g.129532637C>T | CA435769109 | RHO | c.801C>T (p.Pro267=) | dbSNP gnomAD v4 |
| 3 | g.129532638T>A | CA354470396 | RHO | c.802T>A (p.Tyr268Asn) | |
| 3 | g.129532638T>C | CA354470398 | RHO | c.802T>C (p.Tyr268His) | |
| 3 | g.129532638T>G | CA354470397 | RHO | c.802T>G (p.Tyr268Asp) |