3 | g.129533646_129533647delinsGA | CA1401213206 | RHO | c.975_976delinsGA (p.Lys325=)
| |
3 | g.129533647A>C | CA354471153 | RHO | c.976A>C (p.Asn326His)
| |
3 | g.129533647A>G | CA354471154 | RHO | c.976A>G (p.Asn326Asp)
| |
3 | g.129533647A>T | CA354471155 | RHO | c.976A>T (p.Asn326Tyr)
| |
3 | g.129533647_129533648del | CA2573320762 | RHO | c.976_977del (p.Asn326ProfsTer4)
| |
3 | g.129533648del | CA1139655837 | RHO | c.977del (p.Asn326ThrfsTer?)
| ClinVar dbSNP |
3 | g.129533647_129533651delinsAACCC | CA1401213215 | RHO | c.976_980delinsAACCC (p.Asn326=)
| |
3 | g.129533648A= | CA1401213222 | RHO | c.977A= (p.Asn326=)
| |
3 | g.129533648A>C | CA354471156 | RHO | c.977A>C (p.Asn326Thr)
| |
3 | g.129533648A>G | CA354471157 | RHO | c.977A>G (p.Asn326Ser)
| ClinVar dbSNP gnomAD v4 |
3 | g.129533648A>T | CA354471158 | RHO | c.977A>T (p.Asn326Ile)
| |
3 | g.129533648_129533650delinsACC | CA1401213224 | RHO | c.977_979delinsACC (p.Asn326=)
| |
3 | g.129533650_129533653del | CA270026 | RHO | c.979_982del (p.Pro327TrpfsTer?)
| ClinVar dbSNP |
3 | g.129533649C>A | CA354471159 | RHO | c.978C>A (p.Asn326Lys)
| |
3 | g.129533649C= | CA1401213236 | RHO | c.978C= (p.Asn326=)
| |
3 | g.129533649C>G | CA354471160 | RHO | c.978C>G (p.Asn326Lys)
| |
3 | g.129533649C>T | CA435623816 | RHO | c.978C>T (p.Asn326=)
| dbSNP |
3 | g.129533651del | CA2579758050 | RHO | c.980del (p.Pro327HisfsTer?)
| |
3 | g.129533650_129533651del | CA915941575 | RHO | c.979_980del (p.Pro327ThrfsTer3)
| ClinVar dbSNP |
3 | g.129533650C>A | CA354471161 | RHO | c.979C>A (p.Pro327Thr)
| dbSNP gnomAD v4 |
3 | g.129533650C= | CA1401213243 | RHO | c.979C= (p.Pro327=)
| |
3 | g.129533650C>G | CA2607351 | RHO | c.979C>G (p.Pro327Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129533650C>T | CA354471162 | RHO | c.979C>T (p.Pro327Ser)
| |
3 | g.129533651C>A | CA354471163 | RHO | c.980C>A (p.Pro327Gln)
| |
3 | g.129533651C= | CA1401213246 | RHO | c.980C= (p.Pro327=)
| |
3 | g.129533651C>G | CA354471165 | RHO | c.980C>G (p.Pro327Arg)
| dbSNP |
3 | g.129533651C>T | CA354471164 | RHO | c.980C>T (p.Pro327Leu)
| |
3 | g.129533652A= | CA1401213248 | RHO | c.981A= (p.Pro327=)
| |
3 | g.129533652A>C | CA435623817 | RHO | c.981A>C (p.Pro327=)
| dbSNP gnomAD v4 |
3 | g.129533652A>G | CA435623818 | RHO | c.981A>G (p.Pro327=)
| |
3 | g.129533652A>T | CA435623819 | RHO | c.981A>T (p.Pro327=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533653del | CA2579758043 | RHO | c.982del (p.Leu328TrpfsTer?)
| |
3 | g.129533653C>A | CA354471166 | RHO | c.982C>A (p.Leu328Met)
| |
3 | g.129533653C>G | CA354471167 | RHO | c.982C>G (p.Leu328Val)
| gnomAD v4 |
3 | g.129533653C>T | CA435623820 | RHO | c.982C>T (p.Leu328=)
| |
3 | g.129533654T>A | CA354471168 | RHO | c.983T>A (p.Leu328Gln)
| |
3 | g.129533654T>C | CA2607352 | RHO | c.983T>C (p.Leu328Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533654T>G | CA354471169 | RHO | c.983T>G (p.Leu328Arg)
| gnomAD v4 |
3 | g.129533654T= | CA1401213253 | RHO | c.983T= (p.Leu328=)
| |
3 | g.129533655G>A | CA435623821 | RHO | c.984G>A (p.Leu328=)
| COSMIC |
3 | g.129533655G>C | CA435623822 | RHO | c.984G>C (p.Leu328=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533655G= | CA1401213256 | RHO | c.984G= (p.Leu328=)
| |
3 | g.129533655G>T | CA435623823 | RHO | c.984G>T (p.Leu328=)
| |
3 | g.129533656G>A | CA354471170 | RHO | c.985G>A (p.Gly329Ser)
| |
3 | g.129533656G>C | CA354471171 | RHO | c.985G>C (p.Gly329Arg)
| gnomAD v4 |
3 | g.129533656G>T | CA354471172 | RHO | c.985G>T (p.Gly329Cys)
| |
3 | g.129533657G>A | CA354471173 | RHO | c.986G>A (p.Gly329Asp)
| ClinVar gnomAD v4 |
3 | g.129533657G>C | CA354471174 | RHO | c.986G>C (p.Gly329Ala)
| |
3 | g.129533657G>T | CA354471175 | RHO | c.986G>T (p.Gly329Val)
| |
3 | g.129533658T>A | CA435623824 | RHO | c.987T>A (p.Gly329=)
| |
3 | g.129533658T>C | CA435623825 | RHO | c.987T>C (p.Gly329=)
| |
3 | g.129533658T>G | CA435623826 | RHO | c.987T>G (p.Gly329=)
| |
3 | g.129533659G>A | CA354471178 | RHO | c.988G>A (p.Asp330Asn)
| |
3 | g.129533659G>C | CA354471177 | RHO | c.988G>C (p.Asp330His)
| |
3 | g.129533659G>T | CA354471176 | RHO | c.988G>T (p.Asp330Tyr)
| |
3 | g.129533660A>C | CA354471179 | RHO | c.989A>C (p.Asp330Ala)
| |
3 | g.129533660A>G | CA354471180 | RHO | c.989A>G (p.Asp330Gly)
| |
3 | g.129533660A>T | CA354471181 | RHO | c.989A>T (p.Asp330Val)
| |
3 | g.129533661C>A | CA354471182 | RHO | c.990C>A (p.Asp330Glu)
| |
3 | g.129533661C= | CA1401213260 | RHO | c.990C= (p.Asp330=)
| |
3 | g.129533661C>G | CA354471183 | RHO | c.990C>G (p.Asp330Glu)
| |
3 | g.129533661C>T | CA2607353 | RHO | c.990C>T (p.Asp330=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533662G>A | CA2607354 | RHO | c.991G>A (p.Asp331Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533662G>C | CA2607355 | RHO | c.991G>C (p.Asp331His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533662G= | CA1401213266 | RHO | c.991G= (p.Asp331=)
| |
3 | g.129533662G>T | CA354471184 | RHO | c.991G>T (p.Asp331Tyr)
| |
3 | g.129533663A= | CA1401213269 | RHO | c.992A= (p.Asp331=)
| |
3 | g.129533663A>C | CA354471185 | RHO | c.992A>C (p.Asp331Ala)
| |
3 | g.129533663A>G | CA354471186 | RHO | c.992A>G (p.Asp331Gly)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129533663A>T | CA354471187 | RHO | c.992A>T (p.Asp331Val)
| |
3 | g.129533664T>A | CA354471188 | RHO | c.993T>A (p.Asp331Glu)
| |
3 | g.129533664T>C | CA435623827 | RHO | c.993T>C (p.Asp331=)
| |
3 | g.129533664T>G | CA354471189 | RHO | c.993T>G (p.Asp331Glu)
| |
3 | g.129533664_129533671del | CA2573320769 | RHO | c.993_1000del (p.Glu332CysfsTer19)
| |
3 | g.129533666_129533682del | CA2579758048 | RHO | c.995_1011del (p.Glu332ValfsTer16)
| ClinVar |
3 | g.129533665G>A | CA354471190 | RHO | c.994G>A (p.Glu332Lys)
| gnomAD v4 |
3 | g.129533665G>C | CA354471192 | RHO | c.994G>C (p.Glu332Gln)
| |
3 | g.129533665G>T | CA354471191 | RHO | c.994G>T (p.Glu332Ter)
| |
3 | g.129533666A= | CA1401213271 | RHO | c.995A= (p.Glu332=)
| |
3 | g.129533666A>C | CA354471193 | RHO | c.995A>C (p.Glu332Ala)
| |
3 | g.129533666A>G | CA354471194 | RHO | c.995A>G (p.Glu332Gly)
| |
3 | g.129533666A>T | CA2607356 | RHO | c.995A>T (p.Glu332Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129533666_129533669dup | CA2579758044 | RHO | c.995_998dup (p.Ser334GlyfsTer21)
| |
3 | g.129533667G>A | CA435623828 | RHO | c.996G>A (p.Glu332=)
| gnomAD v4 |
3 | g.129533667G>C | CA354471195 | RHO | c.996G>C (p.Glu332Asp)
| |
3 | g.129533667G>T | CA354471196 | RHO | c.996G>T (p.Glu332Asp)
| |
3 | g.129533668G>A | CA354471197 | RHO | c.997G>A (p.Ala333Thr)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129533668G>C | CA354471198 | RHO | c.997G>C (p.Ala333Pro)
| |
3 | g.129533668G= | CA1401213274 | RHO | c.997G= (p.Ala333=)
| |
3 | g.129533668G>T | CA354471199 | RHO | c.997G>T (p.Ala333Ser)
| |
3 | g.129533669C>A | CA354471200 | RHO | c.998C>A (p.Ala333Asp)
| |
3 | g.129533669C= | CA1401213277 | RHO | c.998C= (p.Ala333=)
| |
3 | g.129533669C>G | CA354471201 | RHO | c.998C>G (p.Ala333Gly)
| |
3 | g.129533669C>T | CA2607357 | RHO | c.998C>T (p.Ala333Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533670del | CA2739279126 | RHO | c.999del (p.Ser334LeufsTer26)
| ClinVar |
3 | g.129533670C>A | CA435623829 | RHO | c.999C>A (p.Ala333=)
| |
3 | g.129533670C>G | CA435623830 | RHO | c.999C>G (p.Ala333=)
| gnomAD v4 |
3 | g.129533670C>T | CA435623831 | RHO | c.999C>T (p.Ala333=)
| |
3 | g.129533671T>A | CA354471204 | RHO | c.1000T>A (p.Ser334Thr)
| |
3 | g.129533671T>C | CA354471203 | RHO | c.1000T>C (p.Ser334Pro)
| |
3 | g.129533671T>G | CA354471202 | RHO | c.1000T>G (p.Ser334Ala)
| |
3 | g.129533672C>A | CA354471205 | RHO | c.1001C>A (p.Ser334Tyr)
| |
3 | g.129533672C>G | CA354471206 | RHO | c.1001C>G (p.Ser334Cys)
| |
3 | g.129533672C>T | CA354471207 | RHO | c.1001C>T (p.Ser334Phe)
| |
3 | g.129533673T>A | CA435623832 | RHO | c.1002T>A (p.Ser334=)
| |
3 | g.129533673T>C | CA435623833 | RHO | c.1002T>C (p.Ser334=)
| |
3 | g.129533673T>G | CA435623834 | RHO | c.1002T>G (p.Ser334=)
| |
3 | g.129533674del | CA2579758045 | RHO | c.1003del (p.Ala335LeufsTer25)
| |
3 | g.129533674G>A | CA354471208 | RHO | c.1003G>A (p.Ala335Thr)
| |
3 | g.129533674G>C | CA354471209 | RHO | c.1003G>C (p.Ala335Pro)
| |
3 | g.129533674G>T | CA354471210 | RHO | c.1003G>T (p.Ala335Ser)
| |
3 | g.129533675C>A | CA354471211 | RHO | c.1004C>A (p.Ala335Asp)
| |
3 | g.129533675C>G | CA354471212 | RHO | c.1004C>G (p.Ala335Gly)
| |
3 | g.129533675C>T | CA354471213 | RHO | c.1004C>T (p.Ala335Val)
| |
3 | g.129533676del | CA2586965922 | RHO | c.1005del (p.Thr336ProfsTer24)
| |
3 | g.129533676T>A | CA435623835 | RHO | c.1005T>A (p.Ala335=)
| |
3 | g.129533676T>C | CA435623836 | RHO | c.1005T>C (p.Ala335=)
| |
3 | g.129533676T>G | CA435623837 | RHO | c.1005T>G (p.Ala335=)
| |
3 | g.129533677A= | CA1401213282 | RHO | c.1006A= (p.Thr336=)
| |
3 | g.129533677A>C | CA354471214 | RHO | c.1006A>C (p.Thr336Pro)
| dbSNP |
3 | g.129533677A>G | CA354471215 | RHO | c.1006A>G (p.Thr336Ala)
| |
3 | g.129533677A>T | CA354471216 | RHO | c.1006A>T (p.Thr336Ser)
| |
3 | g.129533678C>A | CA354471219 | RHO | c.1007C>A (p.Thr336Asn)
| |
3 | g.129533678C>G | CA354471218 | RHO | c.1007C>G (p.Thr336Ser)
| |
3 | g.129533678C>T | CA354471217 | RHO | c.1007C>T (p.Thr336Ile)
| |
3 | g.129533679C>A | CA435623838 | RHO | c.1008C>A (p.Thr336=)
| |
3 | g.129533679C= | CA1401213286 | RHO | c.1008C= (p.Thr336=)
| |
3 | g.129533679C>G | CA435623839 | RHO | c.1008C>G (p.Thr336=)
| |
3 | g.129533679C>T | CA2607358 | RHO | c.1008C>T (p.Thr336=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533680G>A | CA2607359 | RHO | c.1009G>A (p.Val337Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533680G>C | CA82621323 | RHO | c.1009G>C (p.Val337Leu)
| dbSNP gnomAD v4 |
3 | g.129533680G= | CA1401213294 | RHO | c.1009G= (p.Val337=)
| |
3 | g.129533680G>T | CA354471220 | RHO | c.1009G>T (p.Val337Leu)
| |
3 | g.129533680_129533681delinsGT | CA1401213297 | RHO | c.1009_1010delinsGT (p.Val337=)
| |
3 | g.129533681del | CA1139655838 | RHO | c.1010del (p.Val337GlyfsTer23)
| ClinVar dbSNP |
3 | g.129533681T>A | CA354471221 | RHO | c.1010T>A (p.Val337Glu)
| |
3 | g.129533681T>C | CA2607360 | RHO | c.1010T>C (p.Val337Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533681T>G | CA354471222 | RHO | c.1010T>G (p.Val337Gly)
| |
3 | g.129533681T= | CA1401213303 | RHO | c.1010T= (p.Val337=)
| |
3 | g.129533682G>A | CA435623840 | RHO | c.1011G>A (p.Val337=)
| ClinVar |
3 | g.129533682G>C | CA435623841 | RHO | c.1011G>C (p.Val337=)
| |
3 | g.129533682G>T | CA435623842 | RHO | c.1011G>T (p.Val337=)
| |
3 | g.129533683_129533729del | CA2580068752 | RHO | c.1012_*11del (n.[c.1012_*11del;Ser338AspfsTer30])
| ClinVar |
3 | g.129533683T>A | CA354471223 | RHO | c.1012T>A (p.Ser338Thr)
| |
3 | g.129533683T>C | CA354471225 | RHO | c.1012T>C (p.Ser338Pro)
| |
3 | g.129533683T>G | CA354471224 | RHO | c.1012T>G (p.Ser338Ala)
| |
3 | g.129533684C>A | CA354471226 | RHO | c.1013C>A (p.Ser338Tyr)
| |
3 | g.129533684C>G | CA354471227 | RHO | c.1013C>G (p.Ser338Cys)
| |
3 | g.129533684C>T | CA354471228 | RHO | c.1013C>T (p.Ser338Phe)
| |
3 | g.129533685C>A | CA435623843 | RHO | c.1014C>A (p.Ser338=)
| ClinVar dbSNP gnomAD v2 |
3 | g.129533685C= | CA1401213308 | RHO | c.1014C= (p.Ser338=)
| |
3 | g.129533685C>G | CA435623844 | RHO | c.1014C>G (p.Ser338=)
| |
3 | g.129533685C>T | CA2607361 | RHO | c.1014C>T (p.Ser338=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533686A= | CA1401213317 | RHO | c.1015A= (p.Lys339=)
| |
3 | g.129533686A>C | CA354471229 | RHO | c.1015A>C (p.Lys339Gln)
| |
3 | g.129533686A>G | CA354471231 | RHO | c.1015A>G (p.Lys339Glu)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533686A>T | CA354471230 | RHO | c.1015A>T (p.Lys339Ter)
| ClinVar dbSNP |
3 | g.129533687A>C | CA354471232 | RHO | c.1016A>C (p.Lys339Thr)
| |
3 | g.129533687A>G | CA354471233 | RHO | c.1016A>G (p.Lys339Arg)
| |
3 | g.129533687A>T | CA354471234 | RHO | c.1016A>T (p.Lys339Met)
| |
3 | g.129533688G>A | CA435623845 | RHO | c.1017G>A (p.Lys339=)
| |
3 | g.129533688G>C | CA354471235 | RHO | c.1017G>C (p.Lys339Asn)
| |
3 | g.129533688G>T | CA354471236 | RHO | c.1017G>T (p.Lys339Asn)
| |
3 | g.129533691_129533732del | CA2586965923 | RHO | c.1020_*14del (n.[c.1020_*14del;Glu341LeufsTer?])
| |
3 | g.129533689A>C | CA354471237 | RHO | c.1018A>C (p.Thr340Pro)
| |
3 | g.129533689A>G | CA354471238 | RHO | c.1018A>G (p.Thr340Ala)
| |
3 | g.129533689A>T | CA354471239 | RHO | c.1018A>T (p.Thr340Ser)
| |
3 | g.129533690del | CA2579758047 | RHO | c.1019del (p.Thr340ArgfsTer20)
| |
3 | g.129533690C>A | CA354471240 | RHO | c.1019C>A (p.Thr340Lys)
| |
3 | g.129533690C= | CA1401213324 | RHO | c.1019C= (p.Thr340=)
| |
3 | g.129533690C>G | CA354471241 | RHO | c.1019C>G (p.Thr340Arg)
| |
3 | g.129533690C>T | CA2607362 | RHO | c.1019C>T (p.Thr340Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129533691G>A | CA2607363 | RHO | c.1020G>A (p.Thr340=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129533691G>C | CA2607364 | RHO | c.1020G>C (p.Thr340=)
| dbSNP ExAC gnomAD v2 |
3 | g.129533691G= | CA1401213335 | RHO | c.1020G= (p.Thr340=)
| |
3 | g.129533691G>T | CA435623846 | RHO | c.1020G>T (p.Thr340=)
| |
3 | g.129533692dup | CA2579758041 | RHO | c.1021dup (p.Glu341GlyfsTer13)
| |
3 | g.129533692_129533699del | CA2579758049 | RHO | c.1021_1028del (p.Glu341ProfsTer10)
| |
3 | g.129533692G>A | CA2607365 | RHO | c.1021G>A (p.Glu341Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.129533692G>C | CA354471243 | RHO | c.1021G>C (p.Glu341Gln)
| |
3 | g.129533692G= | CA1401213345 | RHO | c.1021G= (p.Glu341=)
| |
3 | g.129533692G>T | CA354471242 | RHO | c.1021G>T (p.Glu341Ter)
| |
3 | g.129533693A>C | CA354471244 | RHO | c.1022A>C (p.Glu341Ala)
| |
3 | g.129533693A>G | CA354471246 | RHO | c.1022A>G (p.Glu341Gly)
| |
3 | g.129533693A>T | CA354471245 | RHO | c.1022A>T (p.Glu341Val)
| |
3 | g.129533694G>A | CA435623847 | RHO | c.1023G>A (p.Glu341=)
| ClinVar dbSNP |
3 | g.129533694G>C | CA354471247 | RHO | c.1023G>C (p.Glu341Asp)
| |
3 | g.129533694G>T | CA354471248 | RHO | c.1023G>T (p.Glu341Asp)
| |
3 | g.129533695A>C | CA354471249 | RHO | c.1024A>C (p.Thr342Pro)
| |
3 | g.129533695A>G | CA354471250 | RHO | c.1024A>G (p.Thr342Ala)
| |
3 | g.129533695A>T | CA354471251 | RHO | c.1024A>T (p.Thr342Ser)
| |
3 | g.129533696C>A | CA2607367 | RHO | c.1025C>A (p.Thr342Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533696C= | CA1401213356 | RHO | c.1025C= (p.Thr342=)
| |
3 | g.129533696C>G | CA354471252 | RHO | c.1025C>G (p.Thr342Arg)
| gnomAD v4 |
3 | g.129533696C>T | CA2607366 | RHO | c.1025C>T (p.Thr342Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129533697G>A | CA435623848 | RHO | c.1026G>A (p.Thr342=)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533697G>C | CA435623849 | RHO | c.1026G>C (p.Thr342=)
| ClinVar dbSNP gnomAD v4 |
3 | g.129533697G= | CA1401213365 | RHO | c.1026G= (p.Thr342=)
| |
3 | g.129533697G>T | CA435623850 | RHO | c.1026G>T (p.Thr342=)
| gnomAD v4 |
3 | g.129533698A>C | CA354471253 | RHO | c.1027A>C (p.Ser343Arg)
| |
3 | g.129533698A>G | CA354471254 | RHO | c.1027A>G (p.Ser343Gly)
| |
3 | g.129533698A>T | CA354471255 | RHO | c.1027A>T (p.Ser343Cys)
| |
3 | g.129533699G>A | CA354471256 | RHO | c.1028G>A (p.Ser343Asn)
| ClinVar dbSNP |
3 | g.129533699G>C | CA354471257 | RHO | c.1028G>C (p.Ser343Thr)
| |
3 | g.129533699G= | CA1401213371 | RHO | c.1028G= (p.Ser343=)
| |
3 | g.129533699G>T | CA354471258 | RHO | c.1028G>T (p.Ser343Ile)
| |
3 | g.129533700C>A | CA354471260 | RHO | c.1029C>A (p.Ser343Arg)
| |
3 | g.129533700C= | CA1401213377 | RHO | c.1029C= (p.Ser343=)
| |
3 | g.129533700C>G | CA354471259 | RHO | c.1029C>G (p.Ser343Arg)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129533700C>T | CA435623851 | RHO | c.1029C>T (p.Ser343=)
| COSMIC |
3 | g.129533701C>A | CA354471261 | RHO | c.1030C>A (p.Gln344Lys)
| gnomAD v4 |
3 | g.129533701C= | CA1401213385 | RHO | c.1030C= (p.Gln344=)
| |
3 | g.129533701C>G | CA354471262 | RHO | c.1030C>G (p.Gln344Glu)
| ClinVar dbSNP |
3 | g.129533701C>T | CA256675 | RHO | c.1030C>T (p.Gln344Ter)
| ClinVar dbSNP |
3 | g.129533702A>C | CA354471263 | RHO | c.1031A>C (p.Gln344Pro)
| |
3 | g.129533702A>G | CA354471264 | RHO | c.1031A>G (p.Gln344Arg)
| |
3 | g.129533702A>T | CA354471265 | RHO | c.1031A>T (p.Gln344Leu)
| |
3 | g.129533703G>A | CA2607368 | RHO | c.1032G>A (p.Gln344=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533703G>C | CA354471266 | RHO | c.1032G>C (p.Gln344His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533703G= | CA1401213398 | RHO | c.1032G= (p.Gln344=)
| |
3 | g.129533703G>T | CA354471267 | RHO | c.1032G>T (p.Gln344His)
| |
3 | g.129533704G>A | CA256697 | RHO | c.1033G>A (p.Val345Met)
| ClinVar dbSNP |
3 | g.129533704G>C | CA256693 | RHO | c.1033G>C (p.Val345Leu)
| ClinVar dbSNP gnomAD v4 |
3 | g.129533704G= | CA1401213411 | RHO | c.1033G= (p.Val345=)
| |
3 | g.129533704G>T | CA354471268 | RHO | c.1033G>T (p.Val345Leu)
| ClinVar dbSNP |
3 | g.129533705T>A | CA354471271 | RHO | c.1034T>A (p.Val345Glu)
| ClinVar dbSNP |
3 | g.129533705T>C | CA354471270 | RHO | c.1034T>C (p.Val345Ala)
| ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.129533705T>G | CA354471269 | RHO | c.1034T>G (p.Val345Gly)
| |
3 | g.129533705T= | CA1401213424 | RHO | c.1034T= (p.Val345=)
| |
3 | g.129533706G>A | CA435623852 | RHO | c.1035G>A (p.Val345=)
| |
3 | g.129533706G>C | CA435623853 | RHO | c.1035G>C (p.Val345=)
| |
3 | g.129533706G>T | CA435623854 | RHO | c.1035G>T (p.Val345=)
| |
3 | g.129533707G>A | CA354471272 | RHO | c.1036G>A (p.Ala346Thr)
| ClinVar dbSNP gnomAD v4 |
3 | g.129533707G>C | CA354471273 | RHO | c.1036G>C (p.Ala346Pro)
| |
3 | g.129533707G= | CA1401213433 | RHO | c.1036G= (p.Ala346=)
| |
3 | g.129533707G>T | CA354471274 | RHO | c.1036G>T (p.Ala346Ser)
| |
3 | g.129533707_129533708delinsGC | CA1401213435 | RHO | c.1036_1037delinsGC (p.Ala346=)
| |
3 | g.129533708C>A | CA354471275 | RHO | c.1037C>A (p.Ala346Asp)
| |
3 | g.129533708C= | CA1401213440 | RHO | c.1037C= (p.Ala346=)
| |
3 | g.129533708C>G | CA354471276 | RHO | c.1037C>G (p.Ala346Gly)
| |
3 | g.129533708C>T | CA354471277 | RHO | c.1037C>T (p.Ala346Val)
| dbSNP |
3 | g.129533711dup | CA1401213443 | RHO | c.1040dup (p.Ala348GlyfsTer6)
| dbSNP |
3 | g.129533711del | CA1139655840 | RHO | c.1040del (p.Pro347ArgfsTer13)
| ClinVar dbSNP gnomAD v4 |
3 | g.129533709C>A | CA435623855 | RHO | c.1038C>A (p.Ala346=)
| |
3 | g.129533709C>G | CA435623856 | RHO | c.1038C>G (p.Ala346=)
| |
3 | g.129533709C>T | CA435623857 | RHO | c.1038C>T (p.Ala346=)
| |
3 | g.129533710C>A | CA354471278 | RHO | c.1039C>A (p.Pro347Thr)
| ClinVar dbSNP |
3 | g.129533710C= | CA1401213449 | RHO | c.1039C= (p.Pro347=)
| |
3 | g.129533710C>G | CA354471279 | RHO | c.1039C>G (p.Pro347Ala)
| ClinVar |
3 | g.129533710C>T | CA256663 | RHO | c.1039C>T (p.Pro347Ser)
| ClinVar dbSNP |
3 | g.129533710_129533712delinsTGC | CA2579758051 | RHO | c.1039_1041delinsTGC (p.Pro347Cys)
| |
3 | g.129533711C>A | CA256694 | RHO | c.1040C>A (p.Pro347Gln)
| ClinVar dbSNP |
3 | g.129533711C= | CA1401213465 | RHO | c.1040C= (p.Pro347=)
| |
3 | g.129533711C>G | CA256678 | RHO | c.1040C>G (p.Pro347Arg)
| ClinVar dbSNP |
3 | g.129533711C>T | CA256662 | RHO | c.1040C>T (p.Pro347Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533712G>A | CA2607369 | RHO | c.1041G>A (p.Pro347=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533712G>C | CA435623858 | RHO | c.1041G>C (p.Pro347=)
| |
3 | g.129533712G= | CA1401213480 | RHO | c.1041G= (p.Pro347=)
| |
3 | g.129533712G>T | CA435623859 | RHO | c.1041G>T (p.Pro347=)
| gnomAD v4 |
3 | g.129533713G>A | CA354471280 | RHO | c.1042G>A (p.Ala348Thr)
| gnomAD v4 COSMIC |
3 | g.129533713G>C | CA354471282 | RHO | c.1042G>C (p.Ala348Pro)
| |
3 | g.129533713G>T | CA354471281 | RHO | c.1042G>T (p.Ala348Ser)
| |
3 | g.129533714C>A | CA354471283 | RHO | c.1043C>A (p.Ala348Asp)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129533714C= | CA1401213483 | RHO | c.1043C= (p.Ala348=)
| |
3 | g.129533714C>G | CA354471284 | RHO | c.1043C>G (p.Ala348Gly)
| |
3 | g.129533714C>T | CA354471285 | RHO | c.1043C>T (p.Ala348Val)
| ClinVar dbSNP gnomAD v4 |
3 | g.129533715C>A | CA435623860 | RHO | c.1044C>A (p.Ala348=)
| |
3 | g.129533715C>G | CA435623861 | RHO | c.1044C>G (p.Ala348=)
| |
3 | g.129533715C>T | CA435623862 | RHO | c.1044C>T (p.Ala348=)
| gnomAD v4 |
3 | g.129533716T>A | CA354471286 | RHO | c.1045T>A (p.Ter349Lys)
| |
3 | g.129533716T>C | CA354471287 | RHO | c.1045T>C (p.Ter349Gln)
| ClinVar dbSNP |
3 | g.129533716T>G | CA354471288 | RHO | c.1045T>G (p.Ter349Glu)
| ClinVar dbSNP gnomAD v4 |
3 | g.129533716T= | CA1401213488 | RHO | c.1045T= (p.Ter349=)
| |
3 | g.129533717A= | CA1401213492 | RHO | c.1046A= (p.Ter349=)
| |
3 | g.129533717A>C | CA354471289 | RHO | c.1046A>C (p.Ter349Ser)
| |
3 | g.129533717A>G | CA435623863 | RHO | c.1046A>G (p.Ter349=)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533717A>T | CA354471290 | RHO | c.1046A>T (p.Ter349Leu)
| |
3 | g.129533718A>C | CA354471291 | RHO | c.1047A>C (p.Ter349Tyr)
| |
3 | g.129533718A>G | CA435623864 | RHO | c.1047A>G (p.Ter349=)
| |
3 | g.129533718A>T | CA354471292 | RHO | c.1047A>T (p.Ter349Tyr)
| |
3 | g.129533719G>A | CA2667618899 | RHO | c.*1G>A (n.*1G>A)
| gnomAD v4 |
3 | g.129533719G= | CA1401213495 | RHO | c.*1G= (n.*1G=)
| |
3 | g.129533719G>T | CA1053436944 | RHO | c.*1G>T (n.*1G>T)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533720A>G | CA2667618902 | RHO | c.*2A>G (n.*2A>G)
| gnomAD v4 |
3 | g.129533721C>A | CA1053436948 | RHO | c.*3C>A (n.*3C>A)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533721C= | CA1401213499 | RHO | c.*3C= (n.*3C=)
| |
3 | g.129533722C= | CA1401213501 | RHO | c.*4C= (n.*4C=)
| |
3 | g.129533722C>G | CA82621393 | RHO | c.*4C>G (n.*4C>G)
| dbSNP gnomAD v4 |
3 | g.129533722C>T | CA898754710 | RHO | c.*4C>T (n.*4C>T)
| dbSNP |
3 | g.129533723T>G | CA2667618909 | RHO | c.*5T>G (n.*5T>G)
| gnomAD v4 |
3 | g.129533724G>A | CA2607370 | RHO | c.*6G>A (n.*6G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533724G= | CA1401213504 | RHO | c.*6G= (n.*6G=)
| |
3 | g.129533725C>A | CA2667618915 | RHO | c.*7C>A (n.*7C>A)
| gnomAD v4 |
3 | g.129533725C= | CA1401213507 | RHO | c.*7C= (n.*7C=)
| |
3 | g.129533725C>T | CA898754711 | RHO | c.*7C>T (n.*7C>T)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533726C>A | CA2577895301 | RHO | c.*8C>A (n.*8C>A)
| gnomAD v4 |
3 | g.129533728_129533729insTAGTCGGCCACAGAGTCCTAGGCAGGTCTTA | CA2667618920 | RHO | c.*10_*11insTAGTCGGCCACAGAGTCCTAGGCAGGTCTTA (n.*10_*11insTAGTCGGCCACAGAGTCCTAGGCAGGTCTTA)
| gnomAD v4 |
3 | g.129533730G>A | CA2577895302 | RHO | c.*12G>A (n.*12G>A)
| |
3 | g.129533731A= | CA1401213509 | RHO | c.*13A= (n.*13A=)
| |
3 | g.129533731A>G | CA2667618923 | RHO | c.*13A>G (n.*13A>G)
| gnomAD v4 |
3 | g.129533731A>T | CA898754716 | RHO | c.*13A>T (n.*13A>T)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533732C>A | CA2667618926 | RHO | c.*14C>A (n.*14C>A)
| gnomAD v4 |
3 | g.129533732C>T | CA2667618929 | RHO | c.*14C>T (n.*14C>T)
| gnomAD v4 |
3 | g.129533733T>C | CA546212249 | RHO | c.*15T>C (n.*15T>C)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.129533733T>G | CA546212250 | RHO | c.*15T>G (n.*15T>G)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129533733T= | CA1401213513 | RHO | c.*15T= (n.*15T=)
| |
3 | g.129533734C>A | CA2667618931 | RHO | c.*16C>A (n.*16C>A)
| gnomAD v4 |
3 | g.129533734C>T | CA2667618932 | RHO | c.*16C>T (n.*16C>T)
| gnomAD v4 |
3 | g.129533734_129533736delinsCTG | CA1401213518 | RHO | c.*16_*18delinsCTG (n.*16_*18delinsCTG)
| |
3 | g.129533735T>C | CA2667618933 | RHO | c.*17T>C (n.*17T>C)
| gnomAD v4 |
3 | g.129533737_129533738del | CA2607371 | RHO | c.*19_*20del (n.*19_*20del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533736G= | CA1401213521 | RHO | c.*18G= (n.*18G=)
| |
3 | g.129533736G>T | CA1401213522 | RHO | c.*18G>T (n.*18G>T)
| dbSNP gnomAD v4 |
3 | g.129533738G>A | CA1401213526 | RHO | c.*20G>A (n.*20G>A)
| dbSNP |
3 | g.129533738G>C | CA2667618935 | RHO | c.*20G>C (n.*20G>C)
| gnomAD v4 |
3 | g.129533738G= | CA1401213524 | RHO | c.*20G= (n.*20G=)
| |
3 | g.129533738G>T | CA2667618934 | RHO | c.*20G>T (n.*20G>T)
| gnomAD v4 |
3 | g.129533738_129533742del | CA2758361883 | RHO | c.*20_*24del (n.*20_*24del)
| |
3 | g.129533739G>A | CA898754728 | RHO | c.*21G>A (n.*21G>A)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533739G= | CA1401213530 | RHO | c.*21G= (n.*21G=)
| |
3 | g.129533740C>A | CA2667618936 | RHO | c.*22C>A (n.*22C>A)
| gnomAD v4 |
3 | g.129533740C>T | CA2667618937 | RHO | c.*22C>T (n.*22C>T)
| gnomAD v4 |
3 | g.129533741C>A | CA2667618939 | RHO | c.*23C>A (n.*23C>A)
| gnomAD v4 |
3 | g.129533741C= | CA1401213534 | RHO | c.*23C= (n.*23C=)
| |
3 | g.129533741C>T | CA2607372 | RHO | c.*23C>T (n.*23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533742G>A | CA546212255 | RHO | c.*24G>A (n.*24G>A)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129533742G= | CA1401213535 | RHO | c.*24G= (n.*24G=)
| |
3 | g.129533744C>A | CA2577895303 | RHO | c.*26C>A (n.*26C>A)
| gnomAD v4 |
3 | g.129533744C= | CA1401213540 | RHO | c.*26C= (n.*26C=)
| |
3 | g.129533744C>T | CA2607373 | RHO | c.*26C>T (n.*26C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129533745T>A | CA2667618955 | RHO | c.*27T>A (n.*27T>A)
| gnomAD v4 |
3 | g.129533745T>G | CA898754740 | RHO | c.*27T>G (n.*27T>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533745T= | CA1401213543 | RHO | c.*27T= (n.*27T=)
| |
3 | g.129533746A= | CA1401213546 | RHO | c.*28A= (n.*28A=)
| |
3 | g.129533746A>G | CA82621412 | RHO | c.*28A>G (n.*28A>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533746A>T | CA2667618992 | RHO | c.*28A>T (n.*28A>T)
| gnomAD v4 |
3 | g.129533747T>A | CA2667618995 | RHO | c.*29T>A (n.*29T>A)
| gnomAD v4 |
3 | g.129533747T>G | CA898754746 | RHO | c.*29T>G (n.*29T>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533747T= | CA1401213550 | RHO | c.*29T= (n.*29T=)
| |