| 3 | g.129532418_129532533del | CA2758361659 | RHO | c.696+2_697del
| |
| 3 | g.129532490_129532494del | CA2758361691 | RHO | c.697-43_697-39del (n.697-43_697-39del)
| |
| 3 | g.129532496G>A | CA546417833 | RHO | c.697-37G>A (n.697-37G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532496G= | CA1401211486 | RHO | c.697-37G= (n.697-37G=)
| |
| 3 | g.129532497G>A | CA82620702 | RHO | c.697-36G>A (n.697-36G>A)
| dbSNP gnomAD v3 |
| 3 | g.129532497G= | CA1401211488 | RHO | c.697-36G= (n.697-36G=)
| |
| 3 | g.129532498A>C | CA2667617135 | RHO | c.697-35A>C (n.697-35A>C)
| gnomAD v4 |
| 3 | g.129532498A>G | CA2667617138 | RHO | c.697-35A>G (n.697-35A>G)
| gnomAD v4 |
| 3 | g.129532498A>T | CA2758361692 | RHO | c.697-35A>T (n.697-35A>T)
| |
| 3 | g.129532499G>A | CA2667617139 | RHO | c.697-34G>A (n.697-34G>A)
| gnomAD v4 |
| 3 | g.129532500C= | CA1401211489 | RHO | c.697-33C= (n.697-33C=)
| |
| 3 | g.129532500C>T | CA1401211490 | RHO | c.697-33C>T (n.697-33C>T)
| dbSNP gnomAD v4 |
| 3 | g.129532501C>T | CA2667617145 | RHO | c.697-32C>T (n.697-32C>T)
| gnomAD v4 |
| 3 | g.129532503T>C | CA2607266 | RHO | c.697-30T>C (n.697-30T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532503T>G | CA546417834 | RHO | c.697-30T>G (n.697-30T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532503T= | CA1401211493 | RHO | c.697-30T= (n.697-30T=)
| |
| 3 | g.129532504G>T | CA2577961797 | RHO | c.697-29G>T (n.697-29G>T)
| |
| 3 | g.129532505G= | CA1401211498 | RHO | c.697-28G= (n.697-28G=)
| |
| 3 | g.129532505G>T | CA898753518 | RHO | c.697-28G>T (n.697-28G>T)
| dbSNP gnomAD v4 |
| 3 | g.129532506T>G | CA2758361694 | RHO | c.697-27T>G (n.697-27T>G)
| |
| 3 | g.129532508T>A | CA2577961798 | RHO | c.697-25T>A (n.697-25T>A)
| |
| 3 | g.129532508T>G | CA2667617157 | RHO | c.697-25T>G (n.697-25T>G)
| gnomAD v4 |
| 3 | g.129532509G>A | CA82620703 | RHO | c.697-24G>A (n.697-24G>A)
| dbSNP |
| 3 | g.129532509G= | CA1401211500 | RHO | c.697-24G= (n.697-24G=)
| |
| 3 | g.129532511A>G | CA2667617160 | RHO | c.697-22A>G (n.697-22A>G)
| gnomAD v4 |
| 3 | g.129532511_129532512delinsAC | CA1401211503 | RHO | c.697-22_697-21delinsAC (n.697-22_697-21delinsAC)
| |
| 3 | g.129532512C= | CA1401211505 | RHO | c.697-21C= (n.697-21C=)
| |
| 3 | g.129532512C>T | CA898753520 | RHO | c.697-21C>T (n.697-21C>T)
| dbSNP |
| 3 | g.129532514del | CA1401211506 | RHO | c.697-19del (n.697-19del)
| dbSNP |
| 3 | g.129532513C>A | CA2577961799 | RHO | c.697-20C>A (n.697-20C>A)
| gnomAD v4 |
| 3 | g.129532513C>T | CA2667617165 | RHO | c.697-20C>T (n.697-20C>T)
| gnomAD v4 |
| 3 | g.129532514C= | CA1401211512 | RHO | c.697-19C= (n.697-19C=)
| |
| 3 | g.129532514C>G | CA898753522 | RHO | c.697-19C>G (n.697-19C>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532514C>T | CA2607267 | RHO | c.697-19C>T (n.697-19C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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=)
| |
| 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=)
| |
