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.129532614_129532615del | CA2704003223 | RHO | c.778_779del (p.Ala260PhefsTer?) | dbSNP |
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) |