| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129532602_129532613del | CA1139655829 | RHO | c.766_777del (p.Ile256_Ile259del) | ClinVar dbSNP |
| 3 | g.129532605_129532613dup | CA1401211728 | RHO | c.769_777dup (p.Ile259_Ala260insMetValIle) | ClinVar dbSNP |
| 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 |