Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532610_129532622delinsCATCGCTTTCCTG | CA1401211743 | RHO | c.774_786delinsCATCGCTTTCCTG (p.Val258=) | |
3 | g.129532614_129532625del | CA1139655830 | RHO | c.778_789del (p.Ala260_Ile263del) | ClinVar dbSNP |
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) |