Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.57903850_57903854delinsCTCGT | CA2224829129 | CNGB1 | c.2762_2766delinsACGAG (p.Tyr921=) c.2744_2748delinsACGAG (p.Tyr915=) n.419_423delinsACGAG c.1613_1617delinsACGAG (p.Tyr538=) | |
16 | g.57903851T>A | CA396057294 | CNGB1 | c.2765A>T (p.Glu922Val) c.2747A>T (p.Glu916Val) n.422A>T c.1616A>T (p.Glu539Val) | |
16 | g.57903851T>C | CA396057296 | CNGB1 | c.2765A>G (p.Glu922Gly) c.2747A>G (p.Glu916Gly) n.422A>G c.1616A>G (p.Glu539Gly) | |
16 | g.57903851T>G | CA396057298 | CNGB1 | c.2765A>C (p.Glu922Ala) c.2747A>C (p.Glu916Ala) n.422A>C c.1616A>C (p.Glu539Ala) | |
16 | g.57903851_57903854del | CA16620217 | CNGB1 | c.2762_2765del (p.Tyr921CysfsTer15) c.2744_2747del (p.Tyr915CysfsTer15) n.419_422del c.1613_1616del (p.Tyr538CysfsTer15) | ClinVar dbSNP gnomAD v4 |
16 | g.57903852C>A | CA396057302 | CNGB1 | c.2764G>T (p.Glu922Ter) c.2746G>T (p.Glu916Ter) n.421G>T c.1615G>T (p.Glu539Ter) | |
16 | g.57903852C= | CA2224829131 | CNGB1 | c.2764G= (p.Glu922=) c.2746G= (p.Glu916=) n.421G= c.1615G= (p.Glu539=) | |
16 | g.57903852C>G | CA8082836 | CNGB1 | c.2764G>C (p.Glu922Gln) c.2746G>C (p.Glu916Gln) n.421G>C c.1615G>C (p.Glu539Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.57903852C>T | CA8082835 | CNGB1 | c.2764G>A (p.Glu922Lys) c.2746G>A (p.Glu916Lys) n.421G>A c.1615G>A (p.Glu539Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.57903853G>A | CA8082837 | CNGB1 | c.2763C>T (p.Tyr921=) c.2745C>T (p.Tyr915=) n.420C>T c.1614C>T (p.Tyr538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.57903853G>C | CA396057305 | CNGB1 | c.2763C>G (p.Tyr921Ter) c.2745C>G (p.Tyr915Ter) n.420C>G c.1614C>G (p.Tyr538Ter) | gnomAD v4 |
16 | g.57903853G= | CA2224829132 | CNGB1 | c.2763C= (p.Tyr921=) c.2745C= (p.Tyr915=) n.420C= c.1614C= (p.Tyr538=) | |
16 | g.57903853G>T | CA396057307 | CNGB1 | c.2763C>A (p.Tyr921Ter) c.2745C>A (p.Tyr915Ter) n.420C>A c.1614C>A (p.Tyr538Ter) | |
16 | g.57903854T>A | CA396057309 | CNGB1 | c.2762A>T (p.Tyr921Phe) c.2744A>T (p.Tyr915Phe) n.419A>T c.1613A>T (p.Tyr538Phe) | |
16 | g.57903854T>C | CA396057311 | CNGB1 | c.2762A>G (p.Tyr921Cys) c.2744A>G (p.Tyr915Cys) n.419A>G c.1613A>G (p.Tyr538Cys) | gnomAD v4 |
16 | g.57903854T>G | CA396057312 | CNGB1 | c.2762A>C (p.Tyr921Ser) c.2744A>C (p.Tyr915Ser) n.419A>C c.1613A>C (p.Tyr538Ser) | |
16 | g.57903855A= | CA2224829133 | CNGB1 | c.2761T= (p.Tyr921=) c.2743T= (p.Tyr915=) n.418T= c.1612T= (p.Tyr538=) | |
16 | g.57903855A>C | CA396057315 | CNGB1 | c.2761T>G (p.Tyr921Asp) c.2743T>G (p.Tyr915Asp) n.418T>G c.1612T>G (p.Tyr538Asp) | |
16 | g.57903855A>G | CA396057313 | CNGB1 | c.2761T>C (p.Tyr921His) c.2743T>C (p.Tyr915His) n.418T>C c.1612T>C (p.Tyr538His) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.57903855A>T | CA396057314 | CNGB1 | c.2761T>A (p.Tyr921Asn) c.2743T>A (p.Tyr915Asn) n.418T>A c.1612T>A (p.Tyr538Asn) | |
16 | g.57903856C>A | CA396057317 | CNGB1 | c.2760G>T (p.Trp920Cys) c.2742G>T (p.Trp914Cys) n.417G>T c.1611G>T (p.Trp537Cys) | |
16 | g.57903856C= | CA2224829134 | CNGB1 | c.2760G= (p.Trp920=) c.2742G= (p.Trp914=) n.417G= c.1611G= (p.Trp537=) | |
16 | g.57903856C>G | CA396057318 | CNGB1 | c.2760G>C (p.Trp920Cys) c.2742G>C (p.Trp914Cys) n.417G>C c.1611G>C (p.Trp537Cys) | |
16 | g.57903856C>T | CA8082838 | CNGB1 | c.2760G>A (p.Trp920Ter) c.2742G>A (p.Trp914Ter) n.417G>A c.1611G>A (p.Trp537Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.57903857C>A | CA396057321 | CNGB1 | c.2759G>T (p.Trp920Leu) c.2741G>T (p.Trp914Leu) n.416G>T c.1610G>T (p.Trp537Leu) | |
16 | g.57903857C= | CA2224829135 | CNGB1 | c.2759G= (p.Trp920=) c.2741G= (p.Trp914=) n.416G= c.1610G= (p.Trp537=) | |
16 | g.57903857C>G | CA396057322 | CNGB1 | c.2759G>C (p.Trp920Ser) c.2741G>C (p.Trp914Ser) n.416G>C c.1610G>C (p.Trp537Ser) | |
16 | g.57903857C>T | CA396057323 | CNGB1 | c.2759G>A (p.Trp920Ter) c.2741G>A (p.Trp914Ter) n.416G>A c.1610G>A (p.Trp537Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.57903858A= | CA2224829136 | CNGB1 | c.2758T= (p.Trp920=) c.2740T= (p.Trp914=) n.415T= c.1609T= (p.Trp537=) | |
16 | g.57903858A>C | CA396057324 | CNGB1 | c.2758T>G (p.Trp920Gly) c.2740T>G (p.Trp914Gly) n.415T>G c.1609T>G (p.Trp537Gly) | |
16 | g.57903858A>G | CA281590003 | CNGB1 | c.2758T>C (p.Trp920Arg) c.2740T>C (p.Trp914Arg) n.415T>C c.1609T>C (p.Trp537Arg) | dbSNP gnomAD v4 |
16 | g.57903858A>T | CA396057327 | CNGB1 | c.2758T>A (p.Trp920Arg) c.2740T>A (p.Trp914Arg) n.415T>A c.1609T>A (p.Trp537Arg) | |
16 | g.57903859G>A | CA495641358 | CNGB1 | c.2757C>T (p.Thr919=) c.2739C>T (p.Thr913=) n.414C>T c.1608C>T (p.Thr536=) | |
16 | g.57903859G>C | CA495641360 | CNGB1 | c.2757C>G (p.Thr919=) c.2739C>G (p.Thr913=) n.414C>G c.1608C>G (p.Thr536=) | |
16 | g.57903859G>T | CA495641362 | CNGB1 | c.2757C>A (p.Thr919=) c.2739C>A (p.Thr913=) n.414C>A c.1608C>A (p.Thr536=) | |
16 | g.57903860G>A | CA396057331 | CNGB1 | c.2756C>T (p.Thr919Ile) c.2738C>T (p.Thr913Ile) n.413C>T c.1607C>T (p.Thr536Ile) | |
16 | g.57903860G>C | CA396057342 | CNGB1 | c.2756C>G (p.Thr919Ser) c.2738C>G (p.Thr913Ser) n.413C>G c.1607C>G (p.Thr536Ser) | |
16 | g.57903860G>T | CA396057343 | CNGB1 | c.2756C>A (p.Thr919Asn) c.2738C>A (p.Thr913Asn) n.413C>A c.1607C>A (p.Thr536Asn) | |
16 | g.57903861T>A | CA396057344 | CNGB1 | c.2755A>T (p.Thr919Ser) c.2737A>T (p.Thr913Ser) n.412A>T c.1606A>T (p.Thr536Ser) | |
16 | g.57903861T>C | CA396057348 | CNGB1 | c.2755A>G (p.Thr919Ala) c.2737A>G (p.Thr913Ala) n.412A>G c.1606A>G (p.Thr536Ala) | |
16 | g.57903861T>G | CA396057345 | CNGB1 | c.2755A>C (p.Thr919Pro) c.2737A>C (p.Thr913Pro) n.412A>C c.1606A>C (p.Thr536Pro) | |
16 | g.57903862C>A | CA396057352 | CNGB1 | c.2754G>T (p.Lys918Asn) c.2736G>T (p.Lys912Asn) n.411G>T c.1605G>T (p.Lys535Asn) | |
16 | g.57903862C>G | CA396057353 | CNGB1 | c.2754G>C (p.Lys918Asn) c.2736G>C (p.Lys912Asn) n.411G>C c.1605G>C (p.Lys535Asn) | |
16 | g.57903862C>T | CA495641363 | CNGB1 | c.2754G>A (p.Lys918=) c.2736G>A (p.Lys912=) n.411G>A c.1605G>A (p.Lys535=) | gnomAD v4 |
16 | g.57903863T>A | CA396057356 | CNGB1 | c.2753A>T (p.Lys918Met) c.2735A>T (p.Lys912Met) n.410A>T c.1604A>T (p.Lys535Met) | gnomAD v4 |
16 | g.57903863T>C | CA396057361 | CNGB1 | c.2753A>G (p.Lys918Arg) c.2735A>G (p.Lys912Arg) n.410A>G c.1604A>G (p.Lys535Arg) | |
16 | g.57903863T>G | CA396057364 | CNGB1 | c.2753A>C (p.Lys918Thr) c.2735A>C (p.Lys912Thr) n.410A>C c.1604A>C (p.Lys535Thr) | |
16 | g.57903864T>A | CA396057367 | CNGB1 | c.2752A>T (p.Lys918Ter) c.2734A>T (p.Lys912Ter) n.409A>T c.1603A>T (p.Lys535Ter) | |
16 | g.57903864T>C | CA396057370 | CNGB1 | c.2752A>G (p.Lys918Glu) c.2734A>G (p.Lys912Glu) n.409A>G c.1603A>G (p.Lys535Glu) | ClinVar dbSNP gnomAD v4 |
16 | g.57903864T>G | CA396057373 | CNGB1 | c.2752A>C (p.Lys918Gln) c.2734A>C (p.Lys912Gln) n.409A>C c.1603A>C (p.Lys535Gln) |