Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532591_129532603delinsGCATGGTCATCAT | CA1401211677 | RHO | c.755_767delinsGCATGGTCATCAT (p.Arg252=) | |
3 | g.129532602_129532613del | CA1139655829 | RHO | c.766_777del (p.Ile256_Ile259del) | ClinVar dbSNP |
3 | g.129532604_129532606del | CA658796376 | RHO | c.768_770del (p.Ile256del) | ClinVar dbSNP |
3 | g.129532605_129532613dup | CA1401211728 | RHO | c.769_777dup (p.Ile259_Ala260insMetValIle) | ClinVar dbSNP |
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=) |