| 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)
| |
| 3 | g.129532639A>C | CA354470399 | RHO | c.803A>C (p.Tyr268Ser)
| |
| 3 | g.129532639A>G | CA354470400 | RHO | c.803A>G (p.Tyr268Cys)
| |
| 3 | g.129532639A>T | CA354470402 | RHO | c.803A>T (p.Tyr268Phe)
| |
| 3 | g.129532640C>A | CA354470404 | RHO | c.804C>A (p.Tyr268Ter)
| |
| 3 | g.129532640C= | CA1401211817 | RHO | c.804C= (p.Tyr268=)
| |
| 3 | g.129532640C>G | CA354470406 | RHO | c.804C>G (p.Tyr268Ter)
| |
| 3 | g.129532640C>T | CA2607289 | RHO | c.804C>T (p.Tyr268=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532641_129532643dup | CA2577961805 | RHO | c.805_807dup (p.Ala269_Ser270insAla)
| |
| 3 | g.129532641G>A | CA2607290 | RHO | c.805G>A (p.Ala269Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532641G>C | CA354470409 | RHO | c.805G>C (p.Ala269Pro)
| |
| 3 | g.129532641G= | CA1401211824 | RHO | c.805G= (p.Ala269=)
| |
| 3 | g.129532641G>T | CA354470410 | RHO | c.805G>T (p.Ala269Ser)
| |
| 3 | g.129532642C>A | CA354470412 | RHO | c.806C>A (p.Ala269Asp)
| ClinVar dbSNP |
| 3 | g.129532642C= | CA1401211831 | RHO | c.806C= (p.Ala269=)
| |
| 3 | g.129532642C>G | CA354470413 | RHO | c.806C>G (p.Ala269Gly)
| |
| 3 | g.129532642C>T | CA354470414 | RHO | c.806C>T (p.Ala269Val)
| |
| 3 | g.129532643C>A | CA435769118 | RHO | c.807C>A (p.Ala269=)
| |
| 3 | g.129532643C>G | CA435769119 | RHO | c.807C>G (p.Ala269=)
| |
| 3 | g.129532643C>T | CA435769120 | RHO | c.807C>T (p.Ala269=)
| gnomAD v4 |
| 3 | g.129532644A= | CA1401211839 | RHO | c.808A= (p.Ser270=)
| |
| 3 | g.129532644A>C | CA16609650 | RHO | c.808A>C (p.Ser270Arg)
| ClinVar dbSNP |
| 3 | g.129532644A>G | CA354470418 | RHO | c.808A>G (p.Ser270Gly)
| |
| 3 | g.129532644A>T | CA354470417 | RHO | c.808A>T (p.Ser270Cys)
| |
| 3 | g.129532645G>A | CA354470420 | RHO | c.809G>A (p.Ser270Asn)
| COSMIC |
| 3 | g.129532645G>C | CA354470422 | RHO | c.809G>C (p.Ser270Thr)
| |
| 3 | g.129532645G>T | CA354470423 | RHO | c.809G>T (p.Ser270Ile)
| |
| 3 | g.129532646C>A | CA354470425 | RHO | c.810C>A (p.Ser270Arg)
| ClinVar dbSNP |
| 3 | g.129532646C= | CA1401211845 | RHO | c.810C= (p.Ser270=)
| |
| 3 | g.129532646C>G | CA354470426 | RHO | c.810C>G (p.Ser270Arg)
| |
| 3 | g.129532646C>T | CA2607291 | RHO | c.810C>T (p.Ser270=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532647G>A | CA2607292 | RHO | c.811G>A (p.Val271Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532647G>C | CA354470430 | RHO | c.811G>C (p.Val271Leu)
| |
| 3 | g.129532647G= | CA1401211852 | RHO | c.811G= (p.Val271=)
| |
| 3 | g.129532647G>T | CA354470431 | RHO | c.811G>T (p.Val271Leu)
| |
| 3 | g.129532648T>A | CA354470433 | RHO | c.812T>A (p.Val271Glu)
| |
| 3 | g.129532648T>C | CA354470435 | RHO | c.812T>C (p.Val271Ala)
| |
| 3 | g.129532648T>G | CA354470436 | RHO | c.812T>G (p.Val271Gly)
| |
| 3 | g.129532649G>A | CA435769125 | RHO | c.813G>A (p.Val271=)
| |
| 3 | g.129532649G>C | CA435769126 | RHO | c.813G>C (p.Val271=)
| dbSNP |
| 3 | g.129532649G= | CA1401211855 | RHO | c.813G= (p.Val271=)
| |
| 3 | g.129532649G>T | CA435769127 | RHO | c.813G>T (p.Val271=)
| |
| 3 | g.129532650G>A | CA354470441 | RHO | c.814G>A (p.Ala272Thr)
| dbSNP gnomAD v4 |
| 3 | g.129532650G>C | CA354470439 | RHO | c.814G>C (p.Ala272Pro)
| |
| 3 | g.129532650G= | CA1401211860 | RHO | c.814G= (p.Ala272=)
| |
| 3 | g.129532650G>T | CA354470438 | RHO | c.814G>T (p.Ala272Ser)
| |
| 3 | g.129532651del | CA2567976588 | RHO | c.815del (p.Ala272AspfsTer17)
| |
| 3 | g.129532651C>A | CA354470443 | RHO | c.815C>A (p.Ala272Glu)
| |
| 3 | g.129532651C>G | CA354470445 | RHO | c.815C>G (p.Ala272Gly)
| |
| 3 | g.129532651C>T | CA354470444 | RHO | c.815C>T (p.Ala272Val)
| gnomAD v4 |
| 3 | g.129532652A>C | CA435769131 | RHO | c.816A>C (p.Ala272=)
| dbSNP |
| 3 | g.129532652A>G | CA435769133 | RHO | c.816A>G (p.Ala272=)
| |
| 3 | g.129532652A>T | CA435769134 | RHO | c.816A>T (p.Ala272=)
| ClinVar gnomAD v4 |
| 3 | g.129532653T>A | CA354470447 | RHO | c.817T>A (p.Phe273Ile)
| |
| 3 | g.129532653T>C | CA354470457 | RHO | c.817T>C (p.Phe273Leu)
| |
| 3 | g.129532653T>G | CA354470459 | RHO | c.817T>G (p.Phe273Val)
| |
| 3 | g.129532654T>A | CA354470461 | RHO | c.818T>A (p.Phe273Tyr)
| |
| 3 | g.129532654T>C | CA354470462 | RHO | c.818T>C (p.Phe273Ser)
| |
| 3 | g.129532654T>G | CA354470463 | RHO | c.818T>G (p.Phe273Cys)
| |
| 3 | g.129532655C>A | CA354470465 | RHO | c.819C>A (p.Phe273Leu)
| |
| 3 | g.129532655C>G | CA354470467 | RHO | c.819C>G (p.Phe273Leu)
| |
| 3 | g.129532655C>T | CA435769137 | RHO | c.819C>T (p.Phe273=)
| |
| 3 | g.129532656T>A | CA354470468 | RHO | c.820T>A (p.Tyr274Asn)
| |
| 3 | g.129532656T>C | CA354470470 | RHO | c.820T>C (p.Tyr274His)
| |
| 3 | g.129532656T>G | CA354470472 | RHO | c.820T>G (p.Tyr274Asp)
| |
| 3 | g.129532657A>C | CA354470477 | RHO | c.821A>C (p.Tyr274Ser)
| |
| 3 | g.129532657A>G | CA354470475 | RHO | c.821A>G (p.Tyr274Cys)
| |
| 3 | g.129532657A>T | CA354470474 | RHO | c.821A>T (p.Tyr274Phe)
| gnomAD v4 |
| 3 | g.129532658C>A | CA354470479 | RHO | c.822C>A (p.Tyr274Ter)
| |
| 3 | g.129532658C= | CA1401211862 | RHO | c.822C= (p.Tyr274=)
| |
| 3 | g.129532658C>G | CA354470480 | RHO | c.822C>G (p.Tyr274Ter)
| |
| 3 | g.129532658C>T | CA435769142 | RHO | c.822C>T (p.Tyr274=)
| dbSNP gnomAD v4 |
| 3 | g.129532659A= | CA1401211864 | RHO | c.823A= (p.Ile275=)
| |
| 3 | g.129532659A>C | CA354470482 | RHO | c.823A>C (p.Ile275Leu)
| ClinVar dbSNP |
| 3 | g.129532659A>G | CA2607293 | RHO | c.823A>G (p.Ile275Val)
| dbSNP ExAC gnomAD v2 |
| 3 | g.129532659A>T | CA354470484 | RHO | c.823A>T (p.Ile275Phe)
| |
| 3 | g.129532660T>A | CA354470486 | RHO | c.824T>A (p.Ile275Asn)
| |
| 3 | g.129532660T>C | CA354470487 | RHO | c.824T>C (p.Ile275Thr)
| |
| 3 | g.129532660T>G | CA354470488 | RHO | c.824T>G (p.Ile275Ser)
| |
| 3 | g.129532661C>A | CA435769145 | RHO | c.825C>A (p.Ile275=)
| dbSNP |
| 3 | g.129532661C= | CA1401211869 | RHO | c.825C= (p.Ile275=)
| |
| 3 | g.129532661C>G | CA354470489 | RHO | c.825C>G (p.Ile275Met)
| |
| 3 | g.129532661C>T | CA435769146 | RHO | c.825C>T (p.Ile275=)
| gnomAD v4 |
| 3 | g.129532662T>A | CA354470490 | RHO | c.826T>A (p.Phe276Ile)
| |
| 3 | g.129532662T>C | CA354470492 | RHO | c.826T>C (p.Phe276Leu)
| |
| 3 | g.129532662T>G | CA2607294 | RHO | c.826T>G (p.Phe276Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532662T= | CA1401211877 | RHO | c.826T= (p.Phe276=)
| |
| 3 | g.129532663T>A | CA354470497 | RHO | c.827T>A (p.Phe276Tyr)
| |
| 3 | g.129532663T>C | CA354470496 | RHO | c.827T>C (p.Phe276Ser)
| |
| 3 | g.129532663T>G | CA354470494 | RHO | c.827T>G (p.Phe276Cys)
| |
| 3 | g.129532664C>A | CA354470499 | RHO | c.828C>A (p.Phe276Leu)
| |
| 3 | g.129532664C= | CA1401211884 | RHO | c.828C= (p.Phe276=)
| |
| 3 | g.129532664C>G | CA354470501 | RHO | c.828C>G (p.Phe276Leu)
| |
| 3 | g.129532664C>T | CA2607295 | RHO | c.828C>T (p.Phe276=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532665A>C | CA354470503 | RHO | c.829A>C (p.Thr277Pro)
| |
| 3 | g.129532665A>G | CA354470504 | RHO | c.829A>G (p.Thr277Ala)
| |
| 3 | g.129532665A>T | CA354470505 | RHO | c.829A>T (p.Thr277Ser)
| |
| 3 | g.129532666C>A | CA354470507 | RHO | c.830C>A (p.Thr277Asn)
| |
| 3 | g.129532666C>G | CA354470508 | RHO | c.830C>G (p.Thr277Ser)
| |
| 3 | g.129532666C>T | CA354470509 | RHO | c.830C>T (p.Thr277Ile)
| gnomAD v4 |
| 3 | g.129532667C>A | CA82620788 | RHO | c.831C>A (p.Thr277=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532667C= | CA1401211888 | RHO | c.831C= (p.Thr277=)
| |
| 3 | g.129532667C>G | CA435769150 | RHO | c.831C>G (p.Thr277=)
| |
| 3 | g.129532667C>T | CA435769152 | RHO | c.831C>T (p.Thr277=)
| |
| 3 | g.129532668C>A | CA354470511 | RHO | c.832C>A (p.His278Asn)
| |
| 3 | g.129532668C>G | CA354470512 | RHO | c.832C>G (p.His278Asp)
| |
| 3 | g.129532668C>T | CA354470514 | RHO | c.832C>T (p.His278Tyr)
| |
| 3 | g.129532669A>C | CA354470517 | RHO | c.833A>C (p.His278Pro)
| ClinVar dbSNP |
| 3 | g.129532669A>G | CA354470518 | RHO | c.833A>G (p.His278Arg)
| |
| 3 | g.129532669A>T | CA354470516 | RHO | c.833A>T (p.His278Leu)
| |
| 3 | g.129532670C>A | CA354470519 | RHO | c.834C>A (p.His278Gln)
| |
| 3 | g.129532670C>G | CA354470520 | RHO | c.834C>G (p.His278Gln)
| |
| 3 | g.129532670C>T | CA435769158 | RHO | c.834C>T (p.His278=)
| |
| 3 | g.129532671C>A | CA354470521 | RHO | c.835C>A (p.Gln279Lys)
| |
| 3 | g.129532671C>G | CA354470522 | RHO | c.835C>G (p.Gln279Glu)
| gnomAD v4 |
| 3 | g.129532671C>T | CA354470524 | RHO | c.835C>T (p.Gln279Ter)
| |
| 3 | g.129532672A= | CA1401211892 | RHO | c.836A= (p.Gln279=)
| |
| 3 | g.129532672A>C | CA354470529 | RHO | c.836A>C (p.Gln279Pro)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.129532672A>G | CA354470526 | RHO | c.836A>G (p.Gln279Arg)
| |
| 3 | g.129532672A>T | CA354470527 | RHO | c.836A>T (p.Gln279Leu)
| |
| 3 | g.129532673G>A | CA435769161 | RHO | c.837G>A (p.Gln279=)
| |
| 3 | g.129532673G>C | CA354470530 | RHO | c.837G>C (p.Gln279His)
| |
| 3 | g.129532673G>T | CA354470532 | RHO | c.837G>T (p.Gln279His)
| |
| 3 | g.129532674G>A | CA354470534 | RHO | c.838G>A (p.Gly280Ser)
| |
| 3 | g.129532674G>C | CA354470535 | RHO | c.838G>C (p.Gly280Arg)
| |
| 3 | g.129532674G>T | CA354470537 | RHO | c.838G>T (p.Gly280Cys)
| |
| 3 | g.129532675G>A | CA354470542 | RHO | c.839G>A (p.Gly280Asp)
| |
| 3 | g.129532675G>C | CA354470541 | RHO | c.839G>C (p.Gly280Ala)
| |
| 3 | g.129532675G>T | CA354470539 | RHO | c.839G>T (p.Gly280Val)
| |
| 3 | g.129532676C>A | CA435769165 | RHO | c.840C>A (p.Gly280=)
| COSMIC |
| 3 | g.129532676C>G | CA435769166 | RHO | c.840C>G (p.Gly280=)
| |
| 3 | g.129532676C>T | CA435769167 | RHO | c.840C>T (p.Gly280=)
| |
| 3 | g.129532677T>A | CA354470544 | RHO | c.841T>A (p.Ser281Thr)
| |
| 3 | g.129532677T>C | CA354470548 | RHO | c.841T>C (p.Ser281Pro)
| |
| 3 | g.129532677T>G | CA354470546 | RHO | c.841T>G (p.Ser281Ala)
| |
| 3 | g.129532678C>A | CA354470549 | RHO | c.842C>A (p.Ser281Tyr)
| |
| 3 | g.129532678C>G | CA354470552 | RHO | c.842C>G (p.Ser281Cys)
| |
| 3 | g.129532678C>T | CA354470551 | RHO | c.842C>T (p.Ser281Phe)
| gnomAD v4 |
| 3 | g.129532679C>A | CA435769170 | RHO | c.843C>A (p.Ser281=)
| |
| 3 | g.129532679C>G | CA435769172 | RHO | c.843C>G (p.Ser281=)
| |
| 3 | g.129532679C>T | CA435769173 | RHO | c.843C>T (p.Ser281=)
| |
| 3 | g.129532680A>C | CA354470554 | RHO | c.844A>C (p.Asn282His)
| |
| 3 | g.129532680A>G | CA354470557 | RHO | c.844A>G (p.Asn282Asp)
| |
| 3 | g.129532680A>T | CA354470556 | RHO | c.844A>T (p.Asn282Tyr)
| |
| 3 | g.129532681A>C | CA354470559 | RHO | c.845A>C (p.Asn282Thr)
| |
| 3 | g.129532681A>G | CA354470561 | RHO | c.845A>G (p.Asn282Ser)
| gnomAD v4 |
| 3 | g.129532681A>T | CA354470562 | RHO | c.845A>T (p.Asn282Ile)
| |
| 3 | g.129532682C>A | CA354470564 | RHO | c.846C>A (p.Asn282Lys)
| gnomAD v4 |
| 3 | g.129532682C= | CA1401211895 | RHO | c.846C= (p.Asn282=)
| |
| 3 | g.129532682C>G | CA354470565 | RHO | c.846C>G (p.Asn282Lys)
| |
| 3 | g.129532682C>T | CA435769176 | RHO | c.846C>T (p.Asn282=)
| ClinVar dbSNP |
| 3 | g.129532683T>A | CA354470567 | RHO | c.847T>A (p.Phe283Ile)
| |
| 3 | g.129532683T>C | CA354470569 | RHO | c.847T>C (p.Phe283Leu)
| ClinVar dbSNP |
| 3 | g.129532683T>G | CA354470571 | RHO | c.847T>G (p.Phe283Val)
| |
| 3 | g.129532683T= | CA1401211897 | RHO | c.847T= (p.Phe283=)
| |
| 3 | g.129532684T>A | CA354470572 | RHO | c.848T>A (p.Phe283Tyr)
| |
| 3 | g.129532684T>C | CA354470574 | RHO | c.848T>C (p.Phe283Ser)
| |
| 3 | g.129532684T>G | CA354470575 | RHO | c.848T>G (p.Phe283Cys)
| |
| 3 | g.129532685C>A | CA354470577 | RHO | c.849C>A (p.Phe283Leu)
| dbSNP |
| 3 | g.129532685C= | CA1401211900 | RHO | c.849C= (p.Phe283=)
| |
| 3 | g.129532685C>G | CA354470579 | RHO | c.849C>G (p.Phe283Leu)
| |
| 3 | g.129532685C>T | CA2607296 | RHO | c.849C>T (p.Phe283=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
