UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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) | |
| 16 | g.57903864T= | CA2224829137 | CNGB1 | c.2752A= (p.Lys918=) c.2734A= (p.Lys912=) n.409A= c.1603A= (p.Lys535=) | |
| 16 | g.57903865G>A | CA495641367 | CNGB1 | c.2751C>T (p.Val917=) c.2733C>T (p.Val911=) n.408C>T c.1602C>T (p.Val534=) | gnomAD v4 |
| 16 | g.57903865G>C | CA495641365 | CNGB1 | c.2751C>G (p.Val917=) c.2733C>G (p.Val911=) n.408C>G c.1602C>G (p.Val534=) | |
| 16 | g.57903865G>T | CA495641366 | CNGB1 | c.2751C>A (p.Val917=) c.2733C>A (p.Val911=) n.408C>A c.1602C>A (p.Val534=) | |
| 16 | g.57903866A>C | CA396057381 | CNGB1 | c.2750T>G (p.Val917Gly) c.2732T>G (p.Val911Gly) n.407T>G c.1601T>G (p.Val534Gly) | |
| 16 | g.57903866A>G | CA396057384 | CNGB1 | c.2750T>C (p.Val917Ala) c.2732T>C (p.Val911Ala) n.407T>C c.1601T>C (p.Val534Ala) | |
| 16 | g.57903866A>T | CA396057386 | CNGB1 | c.2750T>A (p.Val917Asp) c.2732T>A (p.Val911Asp) n.407T>A c.1601T>A (p.Val534Asp) | |
| 16 | g.57903867C>A | CA396057394 | CNGB1 | c.2749G>T (p.Val917Phe) c.2731G>T (p.Val911Phe) n.406G>T c.1600G>T (p.Val534Phe) | |
| 16 | g.57903867C= | CA2224829138 | CNGB1 | c.2749G= (p.Val917=) c.2731G= (p.Val911=) n.406G= c.1600G= (p.Val534=) | |
| 16 | g.57903867C>G | CA8082840 | CNGB1 | c.2749G>C (p.Val917Leu) c.2731G>C (p.Val911Leu) n.406G>C c.1600G>C (p.Val534Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903867C>T | CA8082839 | CNGB1 | c.2749G>A (p.Val917Ile) c.2731G>A (p.Val911Ile) n.406G>A c.1600G>A (p.Val534Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903868G>A | CA8082841 | CNGB1 | c.2748C>T (p.Arg916=) c.2730C>T (p.Arg910=) n.405C>T c.1599C>T (p.Arg533=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903868G>C | CA495641602 | CNGB1 | c.2748C>G (p.Arg916=) c.2730C>G (p.Arg910=) n.405C>G c.1599C>G (p.Arg533=) | |
| 16 | g.57903868G= | CA2224829139 | CNGB1 | c.2748C= (p.Arg916=) c.2730C= (p.Arg910=) n.405C= c.1599C= (p.Arg533=) | |
| 16 | g.57903868G>T | CA495641604 | CNGB1 | c.2748C>A (p.Arg916=) c.2730C>A (p.Arg910=) n.405C>A c.1599C>A (p.Arg533=) | |
| 16 | g.57903869C>A | CA396057401 | CNGB1 | c.2747G>T (p.Arg916Leu) c.2729G>T (p.Arg910Leu) n.404G>T c.1598G>T (p.Arg533Leu) | gnomAD v4 |
| 16 | g.57903869C= | CA2224829140 | CNGB1 | c.2747G= (p.Arg916=) c.2729G= (p.Arg910=) n.404G= c.1598G= (p.Arg533=) | |
| 16 | g.57903869C>G | CA396057403 | CNGB1 | c.2747G>C (p.Arg916Pro) c.2729G>C (p.Arg910Pro) n.404G>C c.1598G>C (p.Arg533Pro) | |
| 16 | g.57903869C>T | CA228894 | CNGB1 | c.2747G>A (p.Arg916His) c.2729G>A (p.Arg910His) n.404G>A c.1598G>A (p.Arg533His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903870G>A | CA8082842 | CNGB1 | c.2746C>T (p.Arg916Cys) c.2728C>T (p.Arg910Cys) n.403C>T c.1597C>T (p.Arg533Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903870G>C | CA396057417 | CNGB1 | c.2746C>G (p.Arg916Gly) c.2728C>G (p.Arg910Gly) n.403C>G c.1597C>G (p.Arg533Gly) | COSMIC |
| 16 | g.57903870G= | CA2224829141 | CNGB1 | c.2746C= (p.Arg916=) c.2728C= (p.Arg910=) n.403C= c.1597C= (p.Arg533=) | |
| 16 | g.57903870G>T | CA396057422 | CNGB1 | c.2746C>A (p.Arg916Ser) c.2728C>A (p.Arg910Ser) n.403C>A c.1597C>A (p.Arg533Ser) | |
| 16 | g.57903871G>A | CA495641613 | CNGB1 | c.2745C>T (p.Asn915=) c.2727C>T (p.Asn909=) n.402C>T c.1596C>T (p.Asn532=) | |
| 16 | g.57903871G>C | CA396057429 | CNGB1 | c.2745C>G (p.Asn915Lys) c.2727C>G (p.Asn909Lys) n.402C>G c.1596C>G (p.Asn532Lys) | |
| 16 | g.57903871G>T | CA396057436 | CNGB1 | c.2745C>A (p.Asn915Lys) c.2727C>A (p.Asn909Lys) n.402C>A c.1596C>A (p.Asn532Lys) | gnomAD v4 |
| 16 | g.57903872T>A | CA396057437 | CNGB1 | c.2744A>T (p.Asn915Ile) c.2726A>T (p.Asn909Ile) n.401A>T c.1595A>T (p.Asn532Ile) | |
| 16 | g.57903872T>C | CA396057439 | CNGB1 | c.2744A>G (p.Asn915Ser) c.2726A>G (p.Asn909Ser) n.401A>G c.1595A>G (p.Asn532Ser) | ClinVar |
| 16 | g.57903872T>G | CA396057443 | CNGB1 | c.2744A>C (p.Asn915Thr) c.2726A>C (p.Asn909Thr) n.401A>C c.1595A>C (p.Asn532Thr) | |
| 16 | g.57903873T>A | CA396057469 | CNGB1 | c.2743A>T (p.Asn915Tyr) c.2725A>T (p.Asn909Tyr) n.400A>T c.1594A>T (p.Asn532Tyr) | |
| 16 | g.57903873T>C | CA396057465 | CNGB1 | c.2743A>G (p.Asn915Asp) c.2725A>G (p.Asn909Asp) n.400A>G c.1594A>G (p.Asn532Asp) | |
| 16 | g.57903873T>G | CA396057448 | CNGB1 | c.2743A>C (p.Asn915His) c.2725A>C (p.Asn909His) n.400A>C c.1594A>C (p.Asn532His) | |
| 16 | g.57903874C>A | CA396057472 | CNGB1 | c.2742G>T (p.Gln914His) c.2724G>T (p.Gln908His) n.399G>T c.1593G>T (p.Gln531His) | |
| 16 | g.57903874C= | CA2224829142 | CNGB1 | c.2742G= (p.Gln914=) c.2724G= (p.Gln908=) n.399G= c.1593G= (p.Gln531=) | |
| 16 | g.57903874C>G | CA396057473 | CNGB1 | c.2742G>C (p.Gln914His) c.2724G>C (p.Gln908His) n.399G>C c.1593G>C (p.Gln531His) | |
| 16 | g.57903874C>T | CA281590022 | CNGB1 | c.2742G>A (p.Gln914=) c.2724G>A (p.Gln908=) n.399G>A c.1593G>A (p.Gln531=) | dbSNP |
| 16 | g.57903875T>A | CA396057474 | CNGB1 | c.2741A>T (p.Gln914Leu) c.2723A>T (p.Gln908Leu) n.398A>T c.1592A>T (p.Gln531Leu) | |
| 16 | g.57903875T>C | CA396057475 | CNGB1 | c.2741A>G (p.Gln914Arg) c.2723A>G (p.Gln908Arg) n.398A>G c.1592A>G (p.Gln531Arg) | |
| 16 | g.57903875T>G | CA396057476 | CNGB1 | c.2741A>C (p.Gln914Pro) c.2723A>C (p.Gln908Pro) n.398A>C c.1592A>C (p.Gln531Pro) | |
| 16 | g.57903876G>A | CA396057478 | CNGB1 | c.2740C>T (p.Gln914Ter) c.2722C>T (p.Gln908Ter) n.397C>T c.1591C>T (p.Gln531Ter) | |
| 16 | g.57903876G>C | CA396057483 | CNGB1 | c.2740C>G (p.Gln914Glu) c.2722C>G (p.Gln908Glu) n.397C>G c.1591C>G (p.Gln531Glu) | |
| 16 | g.57903876G>T | CA396057497 | CNGB1 | c.2740C>A (p.Gln914Lys) c.2722C>A (p.Gln908Lys) n.397C>A c.1591C>A (p.Gln531Lys) | |
| 16 | g.57903877C>A | CA495641625 | CNGB1 | c.2739G>T (p.Val913=) c.2721G>T (p.Val907=) n.396G>T c.1590G>T (p.Val530=) | dbSNP |
| 16 | g.57903877C= | CA2224829143 | CNGB1 | c.2739G= (p.Val913=) c.2721G= (p.Val907=) n.396G= c.1590G= (p.Val530=) | |
| 16 | g.57903877C>G | CA495641627 | CNGB1 | c.2739G>C (p.Val913=) c.2721G>C (p.Val907=) n.396G>C c.1590G>C (p.Val530=) | |
| 16 | g.57903877C>T | CA495641629 | CNGB1 | c.2739G>A (p.Val913=) c.2721G>A (p.Val907=) n.396G>A c.1590G>A (p.Val530=) | |
| 16 | g.57903878A= | CA2224829144 | CNGB1 | c.2738T= (p.Val913=) c.2720T= (p.Val907=) n.395T= c.1589T= (p.Val530=) | |
| 16 | g.57903878A>C | CA396057501 | CNGB1 | c.2738T>G (p.Val913Gly) c.2720T>G (p.Val907Gly) n.395T>G c.1589T>G (p.Val530Gly) | |
| 16 | g.57903878A>G | CA8082843 | CNGB1 | c.2738T>C (p.Val913Ala) c.2720T>C (p.Val907Ala) n.395T>C c.1589T>C (p.Val530Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903878A>T | CA396057512 | CNGB1 | c.2738T>A (p.Val913Glu) c.2720T>A (p.Val907Glu) n.395T>A c.1589T>A (p.Val530Glu) | |
| 16 | g.57903879C>A | CA396057516 | CNGB1 | c.2737G>T (p.Val913Leu) c.2719G>T (p.Val907Leu) n.394G>T c.1588G>T (p.Val530Leu) | |
| 16 | g.57903879C= | CA2224829145 | CNGB1 | c.2737G= (p.Val913=) c.2719G= (p.Val907=) n.394G= c.1588G= (p.Val530=) | |
| 16 | g.57903879C>G | CA396057525 | CNGB1 | c.2737G>C (p.Val913Leu) c.2719G>C (p.Val907Leu) n.394G>C c.1588G>C (p.Val530Leu) | |
| 16 | g.57903879C>T | CA8082844 | CNGB1 | c.2737G>A (p.Val913Met) c.2719G>A (p.Val907Met) n.394G>A c.1588G>A (p.Val530Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903880G>A | CA8082845 | CNGB1 | c.2736C>T (p.Ser912=) c.2718C>T (p.Ser906=) n.393C>T c.1587C>T (p.Ser529=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903880G>C | CA495641637 | CNGB1 | c.2736C>G (p.Ser912=) c.2718C>G (p.Ser906=) n.393C>G c.1587C>G (p.Ser529=) | |
| 16 | g.57903880G= | CA2224829146 | CNGB1 | c.2736C= (p.Ser912=) c.2718C= (p.Ser906=) n.393C= c.1587C= (p.Ser529=) | |
| 16 | g.57903880G>T | CA495641638 | CNGB1 | c.2736C>A (p.Ser912=) c.2718C>A (p.Ser906=) n.393C>A c.1587C>A (p.Ser529=) | gnomAD v4 |
| 16 | g.57903881G>A | CA8082846 | CNGB1 | c.2735C>T (p.Ser912Phe) c.2717C>T (p.Ser906Phe) n.392C>T c.1586C>T (p.Ser529Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.57903881G>C | CA396057533 | CNGB1 | c.2735C>G (p.Ser912Cys) c.2717C>G (p.Ser906Cys) n.392C>G c.1586C>G (p.Ser529Cys) | |
| 16 | g.57903881G= | CA2224829147 | CNGB1 | c.2735C= (p.Ser912=) c.2717C= (p.Ser906=) n.392C= c.1586C= (p.Ser529=) | |
| 16 | g.57903881G>T | CA396057544 | CNGB1 | c.2735C>A (p.Ser912Tyr) c.2717C>A (p.Ser906Tyr) n.392C>A c.1586C>A (p.Ser529Tyr) | |
| 16 | g.57903882A>C | CA396057548 | CNGB1 | c.2734T>G (p.Ser912Ala) c.2716T>G (p.Ser906Ala) n.391T>G c.1585T>G (p.Ser529Ala) | |
| 16 | g.57903882A>G | CA396057550 | CNGB1 | c.2734T>C (p.Ser912Pro) c.2716T>C (p.Ser906Pro) n.391T>C c.1585T>C (p.Ser529Pro) | gnomAD v4 |
| 16 | g.57903882A>T | CA396057554 | CNGB1 | c.2734T>A (p.Ser912Thr) c.2716T>A (p.Ser906Thr) n.391T>A c.1585T>A (p.Ser529Thr) | |
| 16 | g.57903883C>A | CA396057557 | CNGB1 | c.2733G>T (p.Lys911Asn) c.2715G>T (p.Lys905Asn) n.390G>T c.1584G>T (p.Lys528Asn) | |
| 16 | g.57903883C= | CA2224829148 | CNGB1 | c.2733G= (p.Lys911=) c.2715G= (p.Lys905=) n.390G= c.1584G= (p.Lys528=) | |
| 16 | g.57903883C>G | CA281590060 | CNGB1 | c.2733G>C (p.Lys911Asn) c.2715G>C (p.Lys905Asn) n.390G>C c.1584G>C (p.Lys528Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903883C>T | CA495641642 | CNGB1 | c.2733G>A (p.Lys911=) c.2715G>A (p.Lys905=) n.390G>A c.1584G>A (p.Lys528=) | dbSNP gnomAD v4 |
| 16 | g.57903884T>A | CA396057577 | CNGB1 | c.2732A>T (p.Lys911Met) c.2714A>T (p.Lys905Met) n.389A>T c.1583A>T (p.Lys528Met) | |
| 16 | g.57903884T>C | CA179894 | CNGB1 | c.2732A>G (p.Lys911Arg) c.2714A>G (p.Lys905Arg) n.389A>G c.1583A>G (p.Lys528Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903884T>G | CA396057589 | CNGB1 | c.2732A>C (p.Lys911Thr) c.2714A>C (p.Lys905Thr) n.389A>C c.1583A>C (p.Lys528Thr) | gnomAD v4 |
| 16 | g.57903884T= | CA2224829149 | CNGB1 | c.2732A= (p.Lys911=) c.2714A= (p.Lys905=) n.389A= c.1583A= (p.Lys528=) | |
| 16 | g.57903885T>A | CA396057593 | CNGB1 | c.2731A>T (p.Lys911Ter) c.2713A>T (p.Lys905Ter) n.388A>T c.1582A>T (p.Lys528Ter) | |
| 16 | g.57903885T>C | CA396057594 | CNGB1 | c.2731A>G (p.Lys911Glu) c.2713A>G (p.Lys905Glu) n.388A>G c.1582A>G (p.Lys528Glu) | |
| 16 | g.57903885T>G | CA396057597 | CNGB1 | c.2731A>C (p.Lys911Gln) c.2713A>C (p.Lys905Gln) n.388A>C c.1582A>C (p.Lys528Gln) | |
| 16 | g.57903886G>A | CA495641656 | CNGB1 | c.2730C>T (p.Pro910=) c.2712C>T (p.Pro904=) n.387C>T c.1581C>T (p.Pro527=) | |
| 16 | g.57903886G>C | CA495641652 | CNGB1 | c.2730C>G (p.Pro910=) c.2712C>G (p.Pro904=) n.387C>G c.1581C>G (p.Pro527=) | |
| 16 | g.57903886G>T | CA495641650 | CNGB1 | c.2730C>A (p.Pro910=) c.2712C>A (p.Pro904=) n.387C>A c.1581C>A (p.Pro527=) | |
| 16 | g.57903887G>A | CA396057610 | CNGB1 | c.2729C>T (p.Pro910Leu) c.2711C>T (p.Pro904Leu) n.386C>T c.1580C>T (p.Pro527Leu) | gnomAD v4 |
| 16 | g.57903887G>C | CA396057605 | CNGB1 | c.2729C>G (p.Pro910Arg) c.2711C>G (p.Pro904Arg) n.386C>G c.1580C>G (p.Pro527Arg) | |
| 16 | g.57903887G>T | CA396057601 | CNGB1 | c.2729C>A (p.Pro910His) c.2711C>A (p.Pro904His) n.386C>A c.1580C>A (p.Pro527His) | |
| 16 | g.57903888G>A | CA396057614 | CNGB1 | c.2728C>T (p.Pro910Ser) c.2710C>T (p.Pro904Ser) n.385C>T c.1579C>T (p.Pro527Ser) | ClinVar |
| 16 | g.57903888G>C | CA396057616 | CNGB1 | c.2728C>G (p.Pro910Ala) c.2710C>G (p.Pro904Ala) n.385C>G c.1579C>G (p.Pro527Ala) | ClinVar |
| 16 | g.57903888G>T | CA396057619 | CNGB1 | c.2728C>A (p.Pro910Thr) c.2710C>A (p.Pro904Thr) n.385C>A c.1579C>A (p.Pro527Thr) | |
| 16 | g.57903889G>A | CA495641662 | CNGB1 | c.2727C>T (p.Ile909=) c.2709C>T (p.Ile903=) n.384C>T c.1578C>T (p.Ile526=) | ClinVar COSMIC |
| 16 | g.57903889G>C | CA396057625 | CNGB1 | c.2727C>G (p.Ile909Met) c.2709C>G (p.Ile903Met) n.384C>G c.1578C>G (p.Ile526Met) | |
| 16 | g.57903889G>T | CA495641665 | CNGB1 | c.2727C>A (p.Ile909=) c.2709C>A (p.Ile903=) n.384C>A c.1578C>A (p.Ile526=) | |
| 16 | g.57903890A= | CA2224829150 | CNGB1 | c.2726T= (p.Ile909=) c.2708T= (p.Ile903=) n.383T= c.1577T= (p.Ile526=) | |
| 16 | g.57903890A>C | CA396057629 | CNGB1 | c.2726T>G (p.Ile909Ser) c.2708T>G (p.Ile903Ser) n.383T>G c.1577T>G (p.Ile526Ser) | |
| 16 | g.57903890A>G | CA281590082 | CNGB1 | c.2726T>C (p.Ile909Thr) c.2708T>C (p.Ile903Thr) n.383T>C c.1577T>C (p.Ile526Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903890A>T | CA396057637 | CNGB1 | c.2726T>A (p.Ile909Asn) c.2708T>A (p.Ile903Asn) n.383T>A c.1577T>A (p.Ile526Asn) | |
| 16 | g.57903891T>A | CA396057640 | CNGB1 | c.2725A>T (p.Ile909Phe) c.2707A>T (p.Ile903Phe) n.382A>T c.1576A>T (p.Ile526Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903891T>C | CA396057644 | CNGB1 | c.2725A>G (p.Ile909Val) c.2707A>G (p.Ile903Val) n.382A>G c.1576A>G (p.Ile526Val) | gnomAD v4 |
| 16 | g.57903891T>G | CA396057651 | CNGB1 | c.2725A>C (p.Ile909Leu) c.2707A>C (p.Ile903Leu) n.382A>C c.1576A>C (p.Ile526Leu) | |
| 16 | g.57903891T= | CA2224829151 | CNGB1 | c.2725A= (p.Ile909=) c.2707A= (p.Ile903=) n.382A= c.1576A= (p.Ile526=) | |
| 16 | g.57903892C>A | CA396057654 | CNGB1 | c.2724G>T (p.Lys908Asn) c.2706G>T (p.Lys902Asn) n.381G>T c.1575G>T (p.Lys525Asn) | |
| 16 | g.57903892C= | CA2224829152 | CNGB1 | c.2724G= (p.Lys908=) c.2706G= (p.Lys902=) n.381G= c.1575G= (p.Lys525=) | |
| 16 | g.57903892C>G | CA396057655 | CNGB1 | c.2724G>C (p.Lys908Asn) c.2706G>C (p.Lys902Asn) n.381G>C c.1575G>C (p.Lys525Asn) | |
| 16 | g.57903892C>T | CA495641673 | CNGB1 | c.2724G>A (p.Lys908=) c.2706G>A (p.Lys902=) n.381G>A c.1575G>A (p.Lys525=) | dbSNP |
| 16 | g.57903893T>A | CA396057657 | CNGB1 | c.2723A>T (p.Lys908Met) c.2705A>T (p.Lys902Met) n.380A>T c.1574A>T (p.Lys525Met) | |
| 16 | g.57903893T>C | CA8082847 | CNGB1 | c.2723A>G (p.Lys908Arg) c.2705A>G (p.Lys902Arg) n.380A>G c.1574A>G (p.Lys525Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903893T>G | CA396057656 | CNGB1 | c.2723A>C (p.Lys908Thr) c.2705A>C (p.Lys902Thr) n.380A>C c.1574A>C (p.Lys525Thr) | |
| 16 | g.57903893T= | CA2224829153 | CNGB1 | c.2723A= (p.Lys908=) c.2705A= (p.Lys902=) n.380A= c.1574A= (p.Lys525=) | |
| 16 | g.57903894T>A | CA396057658 | CNGB1 | c.2722A>T (p.Lys908Ter) c.2704A>T (p.Lys902Ter) n.379A>T c.1573A>T (p.Lys525Ter) | |
| 16 | g.57903894T>C | CA396057660 | CNGB1 | c.2722A>G (p.Lys908Glu) c.2704A>G (p.Lys902Glu) n.379A>G c.1573A>G (p.Lys525Glu) | |
| 16 | g.57903894T>G | CA396057662 | CNGB1 | c.2722A>C (p.Lys908Gln) c.2704A>C (p.Lys902Gln) n.379A>C c.1573A>C (p.Lys525Gln) | |
| 16 | g.57903895G>A | CA8082848 | CNGB1 | c.2721C>T (p.Tyr907=) c.2703C>T (p.Tyr901=) n.378C>T c.1572C>T (p.Tyr524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903895G>C | CA396057669 | CNGB1 | c.2721C>G (p.Tyr907Ter) c.2703C>G (p.Tyr901Ter) n.378C>G c.1572C>G (p.Tyr524Ter) | |
| 16 | g.57903895G= | CA2224829154 | CNGB1 | c.2721C= (p.Tyr907=) c.2703C= (p.Tyr901=) n.378C= c.1572C= (p.Tyr524=) | |
| 16 | g.57903895G>T | CA396057672 | CNGB1 | c.2721C>A (p.Tyr907Ter) c.2703C>A (p.Tyr901Ter) n.378C>A c.1572C>A (p.Tyr524Ter) | |
| 16 | g.57903896T>A | CA396057685 | CNGB1 | c.2720A>T (p.Tyr907Phe) c.2702A>T (p.Tyr901Phe) n.377A>T c.1571A>T (p.Tyr524Phe) | |
| 16 | g.57903896T>C | CA396057689 | CNGB1 | c.2720A>G (p.Tyr907Cys) c.2702A>G (p.Tyr901Cys) n.377A>G c.1571A>G (p.Tyr524Cys) | gnomAD v4 |
| 16 | g.57903896T>G | CA396057693 | CNGB1 | c.2720A>C (p.Tyr907Ser) c.2702A>C (p.Tyr901Ser) n.377A>C c.1571A>C (p.Tyr524Ser) | |
| 16 | g.57903896dup | CA622686872 | CNGB1 | c.2720dup (p.Tyr907Ter) c.2702dup (p.Tyr901Ter) n.377dup c.1571dup (p.Tyr524Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903897A>C | CA396057697 | CNGB1 | c.2719T>G (p.Tyr907Asp) c.2701T>G (p.Tyr901Asp) n.376T>G c.1570T>G (p.Tyr524Asp) | gnomAD v4 |
| 16 | g.57903897A>G | CA396057702 | CNGB1 | c.2719T>C (p.Tyr907His) c.2701T>C (p.Tyr901His) n.376T>C c.1570T>C (p.Tyr524His) | |
| 16 | g.57903897A>T | CA396057705 | CNGB1 | c.2719T>A (p.Tyr907Asn) c.2701T>A (p.Tyr901Asn) n.376T>A c.1570T>A (p.Tyr524Asn) | |
| 16 | g.57903898G>A | CA8082849 | CNGB1 | c.2718C>T (p.Phe906=) c.2700C>T (p.Phe900=) n.375C>T c.1569C>T (p.Phe523=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.57903898G>C | CA396057713 | CNGB1 | c.2718C>G (p.Phe906Leu) c.2700C>G (p.Phe900Leu) n.375C>G c.1569C>G (p.Phe523Leu) | |
| 16 | g.57903898G= | CA2224829155 | CNGB1 | c.2718C= (p.Phe906=) c.2700C= (p.Phe900=) n.375C= c.1569C= (p.Phe523=) | |
| 16 | g.57903898G>T | CA396057709 | CNGB1 | c.2718C>A (p.Phe906Leu) c.2700C>A (p.Phe900Leu) n.375C>A c.1569C>A (p.Phe523Leu) | |
| 16 | g.57903899A>C | CA396057721 | CNGB1 | c.2717T>G (p.Phe906Cys) c.2699T>G (p.Phe900Cys) n.374T>G c.1568T>G (p.Phe523Cys) | |
| 16 | g.57903899A>G | CA396057726 | CNGB1 | c.2717T>C (p.Phe906Ser) c.2699T>C (p.Phe900Ser) n.374T>C c.1568T>C (p.Phe523Ser) | |
| 16 | g.57903899A>T | CA396057724 | CNGB1 | c.2717T>A (p.Phe906Tyr) c.2699T>A (p.Phe900Tyr) n.374T>A c.1568T>A (p.Phe523Tyr) | |
| 16 | g.57903900A>C | CA396057729 | CNGB1 | c.2716T>G (p.Phe906Val) c.2698T>G (p.Phe900Val) n.373T>G c.1567T>G (p.Phe523Val) | |
| 16 | g.57903900A>G | CA396057746 | CNGB1 | c.2716T>C (p.Phe906Leu) c.2698T>C (p.Phe900Leu) n.373T>C c.1567T>C (p.Phe523Leu) | |
| 16 | g.57903900A>T | CA396057731 | CNGB1 | c.2716T>A (p.Phe906Ile) c.2698T>A (p.Phe900Ile) n.373T>A c.1567T>A (p.Phe523Ile) | |
| 16 | g.57903901A= | CA2224829156 | CNGB1 | c.2715T= (p.Asn905=) c.2697T= (p.Asn899=) n.372T= c.1566T= (p.Asn522=) | |
| 16 | g.57903901A>C | CA396057748 | CNGB1 | c.2715T>G (p.Asn905Lys) c.2697T>G (p.Asn899Lys) n.372T>G c.1566T>G (p.Asn522Lys) | dbSNP gnomAD v4 |
| 16 | g.57903901A>G | CA495641696 | CNGB1 | c.2715T>C (p.Asn905=) c.2697T>C (p.Asn899=) n.372T>C c.1566T>C (p.Asn522=) | dbSNP |
| 16 | g.57903901A>T | CA396057753 | CNGB1 | c.2715T>A (p.Asn905Lys) c.2697T>A (p.Asn899Lys) n.372T>A c.1566T>A (p.Asn522Lys) | |
| 16 | g.57903902T>A | CA396057756 | CNGB1 | c.2714A>T (p.Asn905Ile) c.2696A>T (p.Asn899Ile) n.371A>T c.1565A>T (p.Asn522Ile) | gnomAD v4 |
| 16 | g.57903902T>C | CA396057762 | CNGB1 | c.2714A>G (p.Asn905Ser) c.2696A>G (p.Asn899Ser) n.371A>G c.1565A>G (p.Asn522Ser) | |
| 16 | g.57903902T>G | CA396057758 | CNGB1 | c.2714A>C (p.Asn905Thr) c.2696A>C (p.Asn899Thr) n.371A>C c.1565A>C (p.Asn522Thr) | |
| 16 | g.57903903T>A | CA396057764 | CNGB1 | c.2713A>T (p.Asn905Tyr) c.2695A>T (p.Asn899Tyr) n.370A>T c.1564A>T (p.Asn522Tyr) | |
| 16 | g.57903903T>C | CA396057769 | CNGB1 | c.2713A>G (p.Asn905Asp) c.2695A>G (p.Asn899Asp) n.370A>G c.1564A>G (p.Asn522Asp) | gnomAD v4 |
| 16 | g.57903903T>G | CA396057766 | CNGB1 | c.2713A>C (p.Asn905His) c.2695A>C (p.Asn899His) n.370A>C c.1564A>C (p.Asn522His) | gnomAD v4 |
| 16 | g.57903904C>A | CA8082850 | CNGB1 | c.2712G>T (p.Met904Ile) c.2694G>T (p.Met898Ile) n.369G>T c.1563G>T (p.Met521Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903904C= | CA2224829157 | CNGB1 | c.2712G= (p.Met904=) c.2694G= (p.Met898=) n.369G= c.1563G= (p.Met521=) | |
| 16 | g.57903904C>G | CA281590110 | CNGB1 | c.2712G>C (p.Met904Ile) c.2694G>C (p.Met898Ile) n.369G>C c.1563G>C (p.Met521Ile) | dbSNP |
| 16 | g.57903904C>T | CA396057776 | CNGB1 | c.2712G>A (p.Met904Ile) c.2694G>A (p.Met898Ile) n.369G>A c.1563G>A (p.Met521Ile) | gnomAD v4 |
| 16 | g.57903905A>C | CA396057778 | CNGB1 | c.2711T>G (p.Met904Arg) c.2693T>G (p.Met898Arg) n.368T>G c.1562T>G (p.Met521Arg) | gnomAD v4 |
| 16 | g.57903905A>G | CA396057779 | CNGB1 | c.2711T>C (p.Met904Thr) c.2693T>C (p.Met898Thr) n.368T>C c.1562T>C (p.Met521Thr) | |
| 16 | g.57903905A>T | CA396057782 | CNGB1 | c.2711T>A (p.Met904Lys) c.2693T>A (p.Met898Lys) n.368T>A c.1562T>A (p.Met521Lys) | |
| 16 | g.57903906T>A | CA396057787 | CNGB1 | c.2710A>T (p.Met904Leu) c.2692A>T (p.Met898Leu) n.367A>T c.1561A>T (p.Met521Leu) | |
| 16 | g.57903906T>C | CA8082852 | CNGB1 | c.2710A>G (p.Met904Val) c.2692A>G (p.Met898Val) n.367A>G c.1561A>G (p.Met521Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903906T>G | CA8082851 | CNGB1 | c.2710A>C (p.Met904Leu) c.2692A>C (p.Met898Leu) n.367A>C c.1561A>C (p.Met521Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903906T= | CA2224829158 | CNGB1 | c.2710A= (p.Met904=) c.2692A= (p.Met898=) n.367A= c.1561A= (p.Met521=) | |
| 16 | g.57903907G>A | CA8082853 | CNGB1 | c.2709C>T (p.Tyr903=) c.2691C>T (p.Tyr897=) n.366C>T c.1560C>T (p.Tyr520=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903907G>C | CA396057808 | CNGB1 | c.2709C>G (p.Tyr903Ter) c.2691C>G (p.Tyr897Ter) n.366C>G c.1560C>G (p.Tyr520Ter) | |
| 16 | g.57903907G= | CA2224829159 | CNGB1 | c.2709C= (p.Tyr903=) c.2691C= (p.Tyr897=) n.366C= c.1560C= (p.Tyr520=) | |
| 16 | g.57903907G>T | CA396057805 | CNGB1 | c.2709C>A (p.Tyr903Ter) c.2691C>A (p.Tyr897Ter) n.366C>A c.1560C>A (p.Tyr520Ter) | |
| 16 | g.57903908T>A | CA396057813 | CNGB1 | c.2708A>T (p.Tyr903Phe) c.2690A>T (p.Tyr897Phe) n.365A>T c.1559A>T (p.Tyr520Phe) | |
| 16 | g.57903908T>C | CA396057816 | CNGB1 | c.2708A>G (p.Tyr903Cys) c.2690A>G (p.Tyr897Cys) n.365A>G c.1559A>G (p.Tyr520Cys) | gnomAD v4 COSMIC |
| 16 | g.57903908T>G | CA396057817 | CNGB1 | c.2708A>C (p.Tyr903Ser) c.2690A>C (p.Tyr897Ser) n.365A>C c.1559A>C (p.Tyr520Ser) | gnomAD v4 |
| 16 | g.57903909A= | CA2224829160 | CNGB1 | c.2707T= (p.Tyr903=) c.2689T= (p.Tyr897=) n.364T= c.1558T= (p.Tyr520=) | |
| 16 | g.57903909A>C | CA396057818 | CNGB1 | c.2707T>G (p.Tyr903Asp) c.2689T>G (p.Tyr897Asp) n.364T>G c.1558T>G (p.Tyr520Asp) | |
| 16 | g.57903909A>G | CA281590126 | CNGB1 | c.2707T>C (p.Tyr903His) c.2689T>C (p.Tyr897His) n.364T>C c.1558T>C (p.Tyr520His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903909A>T | CA396057819 | CNGB1 | c.2707T>A (p.Tyr903Asn) c.2689T>A (p.Tyr897Asn) n.364T>A c.1558T>A (p.Tyr520Asn) | |
| 16 | g.57903910C>A | CA396057823 | CNGB1 | c.2706G>T (p.Lys902Asn) c.2688G>T (p.Lys896Asn) n.363G>T c.1557G>T (p.Lys519Asn) | |
| 16 | g.57903910C= | CA2224829161 | CNGB1 | c.2706G= (p.Lys902=) c.2688G= (p.Lys896=) n.363G= c.1557G= (p.Lys519=) | |
| 16 | g.57903910C>G | CA396057833 | CNGB1 | c.2706G>C (p.Lys902Asn) c.2688G>C (p.Lys896Asn) n.363G>C c.1557G>C (p.Lys519Asn) | |
| 16 | g.57903910C>T | CA495641727 | CNGB1 | c.2706G>A (p.Lys902=) c.2688G>A (p.Lys896=) n.363G>A c.1557G>A (p.Lys519=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903911T>A | CA396057838 | CNGB1 | c.2705A>T (p.Lys902Met) c.2687A>T (p.Lys896Met) n.362A>T c.1556A>T (p.Lys519Met) | |
| 16 | g.57903911T>C | CA396057841 | CNGB1 | c.2705A>G (p.Lys902Arg) c.2687A>G (p.Lys896Arg) n.362A>G c.1556A>G (p.Lys519Arg) | |
| 16 | g.57903911T>G | CA396057843 | CNGB1 | c.2705A>C (p.Lys902Thr) c.2687A>C (p.Lys896Thr) n.362A>C c.1556A>C (p.Lys519Thr) | ClinVar |
| 16 | g.57903912T>A | CA396057848 | CNGB1 | c.2704A>T (p.Lys902Ter) c.2686A>T (p.Lys896Ter) n.361A>T c.1555A>T (p.Lys519Ter) | |
| 16 | g.57903912T>C | CA396057849 | CNGB1 | c.2704A>G (p.Lys902Glu) c.2686A>G (p.Lys896Glu) n.361A>G c.1555A>G (p.Lys519Glu) | |
| 16 | g.57903912T>G | CA396057846 | CNGB1 | c.2704A>C (p.Lys902Gln) c.2686A>C (p.Lys896Gln) n.361A>C c.1555A>C (p.Lys519Gln) | |
| 16 | g.57903913C>A | CA495641735 | CNGB1 | c.2703G>T (p.Val901=) c.2685G>T (p.Val895=) n.360G>T c.1554G>T (p.Val518=) | |
| 16 | g.57903913C= | CA2224829162 | CNGB1 | c.2703G= (p.Val901=) c.2685G= (p.Val895=) n.360G= c.1554G= (p.Val518=) | |
| 16 | g.57903913C>G | CA495641738 | CNGB1 | c.2703G>C (p.Val901=) c.2685G>C (p.Val895=) n.360G>C c.1554G>C (p.Val518=) | |
| 16 | g.57903913C>T | CA495641737 | CNGB1 | c.2703G>A (p.Val901=) c.2685G>A (p.Val895=) n.360G>A c.1554G>A (p.Val518=) | dbSNP gnomAD v4 |
| 16 | g.57903914A= | CA2224829163 | CNGB1 | c.2702T= (p.Val901=) c.2684T= (p.Val895=) n.359T= c.1553T= (p.Val518=) | |
| 16 | g.57903914A>C | CA396057851 | CNGB1 | c.2702T>G (p.Val901Gly) c.2684T>G (p.Val895Gly) n.359T>G c.1553T>G (p.Val518Gly) | |
| 16 | g.57903914A>G | CA396057852 | CNGB1 | c.2702T>C (p.Val901Ala) c.2684T>C (p.Val895Ala) n.359T>C c.1553T>C (p.Val518Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.57903914A>T | CA396057855 | CNGB1 | c.2702T>A (p.Val901Glu) c.2684T>A (p.Val895Glu) n.359T>A c.1553T>A (p.Val518Glu) | |
| 16 | g.57903915C>A | CA396057857 | CNGB1 | c.2701G>T (p.Val901Leu) c.2683G>T (p.Val895Leu) n.358G>T c.1552G>T (p.Val518Leu) | |
| 16 | g.57903915C= | CA2224829164 | CNGB1 | c.2701G= (p.Val901=) c.2683G= (p.Val895=) n.358G= c.1552G= (p.Val518=) | |
| 16 | g.57903915C>G | CA281590142 | CNGB1 | c.2701G>C (p.Val901Leu) c.2683G>C (p.Val895Leu) n.358G>C c.1552G>C (p.Val518Leu) | dbSNP |
| 16 | g.57903915C>T | CA8082854 | CNGB1 | c.2701G>A (p.Val901Met) c.2683G>A (p.Val895Met) n.358G>A c.1552G>A (p.Val518Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903916C>A | CA495641740 | CNGB1 | c.2700G>T (p.Thr900=) c.2682G>T (p.Thr894=) n.357G>T c.1551G>T (p.Thr517=) | dbSNP |
| 16 | g.57903916C= | CA2224829165 | CNGB1 | c.2700G= (p.Thr900=) c.2682G= (p.Thr894=) n.357G= c.1551G= (p.Thr517=) | |
| 16 | g.57903916C>G | CA495641741 | CNGB1 | c.2700G>C (p.Thr900=) c.2682G>C (p.Thr894=) n.357G>C c.1551G>C (p.Thr517=) | |
| 16 | g.57903916C>T | CA8082855 | CNGB1 | c.2700G>A (p.Thr900=) c.2682G>A (p.Thr894=) n.357G>A c.1551G>A (p.Thr517=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903917G>A | CA8082856 | CNGB1 | c.2699C>T (p.Thr900Met) c.2681C>T (p.Thr894Met) n.356C>T c.1550C>T (p.Thr517Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903917G>C | CA396057865 | CNGB1 | c.2699C>G (p.Thr900Arg) c.2681C>G (p.Thr894Arg) n.356C>G c.1550C>G (p.Thr517Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.57903917G= | CA2224829166 | CNGB1 | c.2699C= (p.Thr900=) c.2681C= (p.Thr894=) n.356C= c.1550C= (p.Thr517=) | |
| 16 | g.57903917G>T | CA396057866 | CNGB1 | c.2699C>A (p.Thr900Lys) c.2681C>A (p.Thr894Lys) n.356C>A c.1550C>A (p.Thr517Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903918T>A | CA396057870 | CNGB1 | c.2698A>T (p.Thr900Ser) c.2680A>T (p.Thr894Ser) n.355A>T c.1549A>T (p.Thr517Ser) | |
| 16 | g.57903918T>C | CA396057873 | CNGB1 | c.2698A>G (p.Thr900Ala) c.2680A>G (p.Thr894Ala) n.355A>G c.1549A>G (p.Thr517Ala) | ClinVar gnomAD v4 |
| 16 | g.57903918T>G | CA396057876 | CNGB1 | c.2698A>C (p.Thr900Pro) c.2680A>C (p.Thr894Pro) n.355A>C c.1549A>C (p.Thr517Pro) | |
| 16 | g.57903919G>A | CA495641742 | CNGB1 | c.2697C>T (p.Ser899=) c.2679C>T (p.Ser893=) n.354C>T c.1548C>T (p.Ser516=) | dbSNP gnomAD v2 |
| 16 | g.57903919G>C | CA396057878 | CNGB1 | c.2697C>G (p.Ser899Arg) c.2679C>G (p.Ser893Arg) n.354C>G c.1548C>G (p.Ser516Arg) | |
| 16 | g.57903919G= | CA2224829167 | CNGB1 | c.2697C= (p.Ser899=) c.2679C= (p.Ser893=) n.354C= c.1548C= (p.Ser516=) | |
| 16 | g.57903919G>T | CA396057881 | CNGB1 | c.2697C>A (p.Ser899Arg) c.2679C>A (p.Ser893Arg) n.354C>A c.1548C>A (p.Ser516Arg) | |
| 16 | g.57903920C>A | CA396057891 | CNGB1 | c.2696G>T (p.Ser899Ile) c.2678G>T (p.Ser893Ile) n.353G>T c.1547G>T (p.Ser516Ile) | |
| 16 | g.57903920C>G | CA396057896 | CNGB1 | c.2696G>C (p.Ser899Thr) c.2678G>C (p.Ser893Thr) n.353G>C c.1547G>C (p.Ser516Thr) | |
| 16 | g.57903920C>T | CA396057898 | CNGB1 | c.2696G>A (p.Ser899Asn) c.2678G>A (p.Ser893Asn) n.353G>A c.1547G>A (p.Ser516Asn) | |
| 16 | g.57903921T>A | CA396057903 | CNGB1 | c.2695A>T (p.Ser899Cys) c.2677A>T (p.Ser893Cys) n.352A>T c.1546A>T (p.Ser516Cys) | |
| 16 | g.57903921T>C | CA396057906 | CNGB1 | c.2695A>G (p.Ser899Gly) c.2677A>G (p.Ser893Gly) n.352A>G c.1546A>G (p.Ser516Gly) | |
| 16 | g.57903921T>G | CA396057908 | CNGB1 | c.2695A>C (p.Ser899Arg) c.2677A>C (p.Ser893Arg) n.352A>C c.1546A>C (p.Ser516Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903921T= | CA2224829168 | CNGB1 | c.2695A= (p.Ser899=) c.2677A= (p.Ser893=) n.352A= c.1546A= (p.Ser516=) | |
| 16 | g.57903922G>A | CA8082857 | CNGB1 | c.2694C>T (p.Asp898=) c.2676C>T (p.Asp892=) n.351C>T c.1545C>T (p.Asp515=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903922G>C | CA396057913 | CNGB1 | c.2694C>G (p.Asp898Glu) c.2676C>G (p.Asp892Glu) n.351C>G c.1545C>G (p.Asp515Glu) | gnomAD v4 |
| 16 | g.57903922G= | CA2224829169 | CNGB1 | c.2694C= (p.Asp898=) c.2676C= (p.Asp892=) n.351C= c.1545C= (p.Asp515=) | |
| 16 | g.57903922G>T | CA396057914 | CNGB1 | c.2694C>A (p.Asp898Glu) c.2676C>A (p.Asp892Glu) n.351C>A c.1545C>A (p.Asp515Glu) | |
| 16 | g.57903922_57903923insC | CA2633520868 | CNGB1 | c.2693_2694insG (p.Asp898GlufsTer?) c.2675_2676insG (p.Asp892GlufsTer?) n.350_351insG c.1544_1545insG (p.Asp515GlufsTer?) | gnomAD v4 |
| 16 | g.57903923T>A | CA396057915 | CNGB1 | c.2693A>T (p.Asp898Val) c.2675A>T (p.Asp892Val) n.350A>T c.1544A>T (p.Asp515Val) | |
| 16 | g.57903923T>C | CA396057916 | CNGB1 | c.2693A>G (p.Asp898Gly) c.2675A>G (p.Asp892Gly) n.350A>G c.1544A>G (p.Asp515Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903923T>G | CA396057917 | CNGB1 | c.2693A>C (p.Asp898Ala) c.2675A>C (p.Asp892Ala) n.350A>C c.1544A>C (p.Asp515Ala) | |
| 16 | g.57903923T= | CA2224829170 | CNGB1 | c.2693A= (p.Asp898=) c.2675A= (p.Asp892=) n.350A= c.1544A= (p.Asp515=) | |
| 16 | g.57903924C>A | CA396057926 | CNGB1 | c.2692G>T (p.Asp898Tyr) c.2674G>T (p.Asp892Tyr) n.349G>T c.1543G>T (p.Asp515Tyr) | |
| 16 | g.57903924C= | CA2224829171 | CNGB1 | c.2692G= (p.Asp898=) c.2674G= (p.Asp892=) n.349G= c.1543G= (p.Asp515=) | |
| 16 | g.57903924C>G | CA396057922 | CNGB1 | c.2692G>C (p.Asp898His) c.2674G>C (p.Asp892His) n.349G>C c.1543G>C (p.Asp515His) | |
| 16 | g.57903924C>T | CA396057920 | CNGB1 | c.2692G>A (p.Asp898Asn) c.2674G>A (p.Asp892Asn) n.349G>A c.1543G>A (p.Asp515Asn) | ClinVar dbSNP gnomAD v4 |
| 16 | g.57903925C>A | CA8082858 | CNGB1 | c.2691G>T (p.Met897Ile) c.2673G>T (p.Met891Ile) n.348G>T c.1542G>T (p.Met514Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903925C= | CA2224829172 | CNGB1 | c.2691G= (p.Met897=) c.2673G= (p.Met891=) n.348G= c.1542G= (p.Met514=) | |
| 16 | g.57903925C>G | CA396057934 | CNGB1 | c.2691G>C (p.Met897Ile) c.2673G>C (p.Met891Ile) n.348G>C c.1542G>C (p.Met514Ile) | |
| 16 | g.57903925C>T | CA396057932 | CNGB1 | c.2691G>A (p.Met897Ile) c.2673G>A (p.Met891Ile) n.348G>A c.1542G>A (p.Met514Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.57903926A= | CA2224829173 | CNGB1 | c.2690T= (p.Met897=) c.2672T= (p.Met891=) n.347T= c.1541T= (p.Met514=) | |
| 16 | g.57903926A>C | CA396057936 | CNGB1 | c.2690T>G (p.Met897Arg) c.2672T>G (p.Met891Arg) n.347T>G c.1541T>G (p.Met514Arg) | |
| 16 | g.57903926A>G | CA396057939 | CNGB1 | c.2690T>C (p.Met897Thr) c.2672T>C (p.Met891Thr) n.347T>C c.1541T>C (p.Met514Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.57903926A>T | CA396057941 | CNGB1 | c.2690T>A (p.Met897Lys) c.2672T>A (p.Met891Lys) n.347T>A c.1541T>A (p.Met514Lys) | |
| 16 | g.57903927T>A | CA396057943 | CNGB1 | c.2689A>T (p.Met897Leu) c.2671A>T (p.Met891Leu) n.346A>T c.1540A>T (p.Met514Leu) | |
| 16 | g.57903927T>C | CA396057944 | CNGB1 | c.2689A>G (p.Met897Val) c.2671A>G (p.Met891Val) n.346A>G c.1540A>G (p.Met514Val) | |
| 16 | g.57903927T>G | CA396057946 | CNGB1 | c.2689A>C (p.Met897Leu) c.2671A>C (p.Met891Leu) n.346A>C c.1540A>C (p.Met514Leu) | gnomAD v4 |
| 16 | g.57903927T= | CA2224829174 | CNGB1 | c.2689A= (p.Met897=) c.2671A= (p.Met891=) n.346A= c.1540A= (p.Met514=) | |
| 16 | g.57903927_57903928insCTTCCCC | CA2224829175 | CNGB1 | c.2688_2689insGGGGAAG (p.Met897GlyfsTer?) c.2670_2671insGGGGAAG (p.Met891GlyfsTer?) n.345_346insGGGGAAG c.1539_1540insGGGGAAG (p.Met514GlyfsTer?) | dbSNP |
| 16 | g.57903927_57903928insCTTCCCCGCCCTGCTGGCGATCGTCTCCCTGCTGGGCGTATTTGGTCACGGTGAGGAAAGCGCCGCCGTCATCCTCGCCTTCCTCAAGGACAACGC | CA2807192608 | CNGB1 | c.2688_2689insGCGTTGTCCTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCAAATACGCCCAGCAGGGAGACGATCGCCAGCAGGGCGGGGAAG c.2670_2671insGCGTTGTCCTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCAAATACGCCCAGCAGGGAGACGATCGCCAGCAGGGCGGGGAAG n.345_346insGCGTTGTCCTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCAAATACGCCCAGCAGGGAGACGATCGCCAGCAGGGCGGGGAAG c.1539_1540insGCGTTGTCCTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCAAATACGCCCAGCAGGGAGACGATCGCCAGCAGGGCGGGGAAG | |
| 16 | g.57903928G>A | CA495641743 | CNGB1 | c.2688C>T (p.Cys896=) c.2670C>T (p.Cys890=) n.345C>T c.1539C>T (p.Cys513=) | |
| 16 | g.57903928G>C | CA396057948 | CNGB1 | c.2688C>G (p.Cys896Trp) c.2670C>G (p.Cys890Trp) n.345C>G c.1539C>G (p.Cys513Trp) | |
| 16 | g.57903928G>T | CA396057950 | CNGB1 | c.2688C>A (p.Cys896Ter) c.2670C>A (p.Cys890Ter) n.345C>A c.1539C>A (p.Cys513Ter) | |
| 16 | g.57903929C>A | CA396057952 | CNGB1 | c.2687G>T (p.Cys896Phe) c.2669G>T (p.Cys890Phe) n.344G>T c.1538G>T (p.Cys513Phe) | gnomAD v4 |
| 16 | g.57903929C= | CA2224829176 | CNGB1 | c.2687G= (p.Cys896=) c.2669G= (p.Cys890=) n.344G= c.1538G= (p.Cys513=) | |
| 16 | g.57903929C>G | CA396057954 | CNGB1 | c.2687G>C (p.Cys896Ser) c.2669G>C (p.Cys890Ser) n.344G>C c.1538G>C (p.Cys513Ser) | |
| 16 | g.57903929C>T | CA396057956 | CNGB1 | c.2687G>A (p.Cys896Tyr) c.2669G>A (p.Cys890Tyr) n.344G>A c.1538G>A (p.Cys513Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903929_57903930insCCTGCTGGCGATCGTCTCCCTACTGGGCGTATTCGGTCACGGTGAGGAAAGCGCCGCCGTCATCCTCGCCTTCCTCAAAGACAACGCGCCCGCCCAGATGTACGCCATTATGGA | CA2807192609 | CNGB1 | c.2686_2687insTCCATAATGGCGTACATCTGGGCGGGCGCGTTGTCTTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCGAATACGCCCAGTAGGGAGACGATCGCCAGCAGG (p.Cys896PhefsTer32) c.2668_2669insTCCATAATGGCGTACATCTGGGCGGGCGCGTTGTCTTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCGAATACGCCCAGTAGGGAGACGATCGCCAGCAGG (p.Cys890PhefsTer32) n.343_344insTCCATAATGGCGTACATCTGGGCGGGCGCGTTGTCTTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCGAATACGCCCAGTAGGGAGACGATCGCCAGCAGG c.1537_1538insTCCATAATGGCGTACATCTGGGCGGGCGCGTTGTCTTTGAGGAAGGCGAGGATGACGGCGGCGCTTTCCTCACCGTGACCGAATACGCCCAGTAGGGAGACGATCGCCAGCAGG (p.Cys513PhefsTer32) | |
| 16 | g.57903930A= | CA2224829177 | CNGB1 | c.2686T= (p.Cys896=) c.2668T= (p.Cys890=) n.343T= c.1537T= (p.Cys513=) | |
| 16 | g.57903930A>C | CA396057961 | CNGB1 | c.2686T>G (p.Cys896Gly) c.2668T>G (p.Cys890Gly) n.343T>G c.1537T>G (p.Cys513Gly) | |
| 16 | g.57903930A>G | CA396057959 | CNGB1 | c.2686T>C (p.Cys896Arg) c.2668T>C (p.Cys890Arg) n.343T>C c.1537T>C (p.Cys513Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903930A>T | CA396057958 | CNGB1 | c.2686T>A (p.Cys896Ser) c.2668T>A (p.Cys890Ser) n.343T>A c.1537T>A (p.Cys513Ser) | |
| 16 | g.57903931G>A | CA495641744 | CNGB1 | c.2685C>T (p.Ser895=) c.2667C>T (p.Ser889=) n.342C>T c.1536C>T (p.Ser512=) | |
| 16 | g.57903931G>C | CA396057963 | CNGB1 | c.2685C>G (p.Ser895Arg) c.2667C>G (p.Ser889Arg) n.342C>G c.1536C>G (p.Ser512Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903931G= | CA2224829178 | CNGB1 | c.2685C= (p.Ser895=) c.2667C= (p.Ser889=) n.342C= c.1536C= (p.Ser512=) | |
| 16 | g.57903931G>T | CA396057965 | CNGB1 | c.2685C>A (p.Ser895Arg) c.2667C>A (p.Ser889Arg) n.342C>A c.1536C>A (p.Ser512Arg) | |
| 16 | g.57903932C>A | CA396057968 | CNGB1 | c.2684G>T (p.Ser895Ile) c.2666G>T (p.Ser889Ile) n.341G>T c.1535G>T (p.Ser512Ile) | |
| 16 | g.57903932C= | CA2224829179 | CNGB1 | c.2684G= (p.Ser895=) c.2666G= (p.Ser889=) n.341G= c.1535G= (p.Ser512=) | |
| 16 | g.57903932C>G | CA396057971 | CNGB1 | c.2684G>C (p.Ser895Thr) c.2666G>C (p.Ser889Thr) n.341G>C c.1535G>C (p.Ser512Thr) | |
| 16 | g.57903932C>T | CA281590163 | CNGB1 | c.2684G>A (p.Ser895Asn) c.2666G>A (p.Ser889Asn) n.341G>A c.1535G>A (p.Ser512Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903933T>A | CA396057976 | CNGB1 | c.2683A>T (p.Ser895Cys) c.2665A>T (p.Ser889Cys) n.340A>T c.1534A>T (p.Ser512Cys) | |
| 16 | g.57903933T>C | CA396057978 | CNGB1 | c.2683A>G (p.Ser895Gly) c.2665A>G (p.Ser889Gly) n.340A>G c.1534A>G (p.Ser512Gly) | |
| 16 | g.57903933T>G | CA396057980 | CNGB1 | c.2683A>C (p.Ser895Arg) c.2665A>C (p.Ser889Arg) n.340A>C c.1534A>C (p.Ser512Arg) | |
| 16 | g.57903933_57903934insC | CA2807192610 | CNGB1 | c.2682_2683insG (p.Ser895GlufsTer?) c.2664_2665insG (p.Ser889GlufsTer?) n.339_340insG c.1533_1534insG (p.Ser512GlufsTer?) | |
| 16 | g.57903934G>A | CA495641745 | CNGB1 | c.2682C>T (p.Arg894=) c.2664C>T (p.Arg888=) n.339C>T c.1533C>T (p.Arg511=) | ClinVar |
| 16 | g.57903934G>C | CA495641746 | CNGB1 | c.2682C>G (p.Arg894=) c.2664C>G (p.Arg888=) n.339C>G c.1533C>G (p.Arg511=) | |
| 16 | g.57903934G>T | CA495641747 | CNGB1 | c.2682C>A (p.Arg894=) c.2664C>A (p.Arg888=) n.339C>A c.1533C>A (p.Arg511=) | |
| 16 | g.57903935C>A | CA396057983 | CNGB1 | c.2681G>T (p.Arg894Leu) c.2663G>T (p.Arg888Leu) n.338G>T c.1532G>T (p.Arg511Leu) | |
| 16 | g.57903935C= | CA2224829180 | CNGB1 | c.2681G= (p.Arg894=) c.2663G= (p.Arg888=) n.338G= c.1532G= (p.Arg511=) | |
| 16 | g.57903935C>G | CA396057984 | CNGB1 | c.2681G>C (p.Arg894Pro) c.2663G>C (p.Arg888Pro) n.338G>C c.1532G>C (p.Arg511Pro) | |
| 16 | g.57903935C>T | CA8082859 | CNGB1 | c.2681G>A (p.Arg894His) c.2663G>A (p.Arg888His) n.338G>A c.1532G>A (p.Arg511His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903935_57903936insTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGG | CA2807192611 | CNGB1 | c.2680_2681insCCCTCACTTTACCCACCTTGAAATGCATCCCCATCCAAGA (p.Arg894ProfsTer?) c.2662_2663insCCCTCACTTTACCCACCTTGAAATGCATCCCCATCCAAGA (p.Arg888ProfsTer?) n.337_338insCCCTCACTTTACCCACCTTGAAATGCATCCCCATCCAAGA c.1531_1532insCCCTCACTTTACCCACCTTGAAATGCATCCCCATCCAAGA (p.Arg511ProfsTer?) | |
| 16 | g.57903936G>A | CA396057993 | CNGB1 | c.2680C>T (p.Arg894Cys) c.2662C>T (p.Arg888Cys) n.337C>T c.1531C>T (p.Arg511Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.57903936G>C | CA396057990 | CNGB1 | c.2680C>G (p.Arg894Gly) c.2662C>G (p.Arg888Gly) n.337C>G c.1531C>G (p.Arg511Gly) | |
| 16 | g.57903936G= | CA2224829181 | CNGB1 | c.2680C= (p.Arg894=) c.2662C= (p.Arg888=) n.337C= c.1531C= (p.Arg511=) | |
| 16 | g.57903936G>T | CA396057987 | CNGB1 | c.2680C>A (p.Arg894Ser) c.2662C>A (p.Arg888Ser) n.337C>A c.1531C>A (p.Arg511Ser) | |
| 16 | g.57903937G>A | CA495641748 | CNGB1 | c.2679C>T (p.Tyr893=) c.2661C>T (p.Tyr887=) n.336C>T c.1530C>T (p.Tyr510=) | dbSNP |
| 16 | g.57903937G>C | CA396057999 | CNGB1 | c.2679C>G (p.Tyr893Ter) c.2661C>G (p.Tyr887Ter) n.336C>G c.1530C>G (p.Tyr510Ter) | |
| 16 | g.57903937G= | CA2224829182 | CNGB1 | c.2679C= (p.Tyr893=) c.2661C= (p.Tyr887=) n.336C= c.1530C= (p.Tyr510=) | |
| 16 | g.57903937G>T | CA396058001 | CNGB1 | c.2679C>A (p.Tyr893Ter) c.2661C>A (p.Tyr887Ter) n.336C>A c.1530C>A (p.Tyr510Ter) | dbSNP |
| 16 | g.57903941_57903943del | CA2580613879 | CNGB1 | c.2677_2679del (p.Tyr893del) c.2659_2661del (p.Tyr887del) n.334_336del c.1528_1530del (p.Tyr510del) | ClinVar |
| 16 | g.57903938T>A | CA396058003 | CNGB1 | c.2678A>T (p.Tyr893Phe) c.2660A>T (p.Tyr887Phe) n.335A>T c.1529A>T (p.Tyr510Phe) | |
| 16 | g.57903938T>C | CA396058004 | CNGB1 | c.2678A>G (p.Tyr893Cys) c.2660A>G (p.Tyr887Cys) n.335A>G c.1529A>G (p.Tyr510Cys) | |
| 16 | g.57903938T>G | CA396058009 | CNGB1 | c.2678A>C (p.Tyr893Ser) c.2660A>C (p.Tyr887Ser) n.335A>C c.1529A>C (p.Tyr510Ser) | |
| 16 | g.57903939A= | CA2224829183 | CNGB1 | c.2677T= (p.Tyr893=) c.2659T= (p.Tyr887=) n.334T= c.1528T= (p.Tyr510=) | |
| 16 | g.57903939A>C | CA396058011 | CNGB1 | c.2677T>G (p.Tyr893Asp) c.2659T>G (p.Tyr887Asp) n.334T>G c.1528T>G (p.Tyr510Asp) | |
| 16 | g.57903939A>G | CA396058013 | CNGB1 | c.2677T>C (p.Tyr893His) c.2659T>C (p.Tyr887His) n.334T>C c.1528T>C (p.Tyr510His) | dbSNP gnomAD v2 |
| 16 | g.57903939A>T | CA396058016 | CNGB1 | c.2677T>A (p.Tyr893Asn) c.2659T>A (p.Tyr887Asn) n.334T>A c.1528T>A (p.Tyr510Asn) | |
| 16 | g.57903940G>A | CA495641749 | CNGB1 | c.2676C>T (p.Tyr892=) c.2658C>T (p.Tyr886=) n.333C>T c.1527C>T (p.Tyr509=) | |
| 16 | g.57903940G>C | CA396058020 | CNGB1 | c.2676C>G (p.Tyr892Ter) c.2658C>G (p.Tyr886Ter) n.333C>G c.1527C>G (p.Tyr509Ter) | |
| 16 | g.57903940G= | CA2224829184 | CNGB1 | c.2676C= (p.Tyr892=) c.2658C= (p.Tyr886=) n.333C= c.1527C= (p.Tyr509=) | |
| 16 | g.57903940G>T | CA396058022 | CNGB1 | c.2676C>A (p.Tyr892Ter) c.2658C>A (p.Tyr886Ter) n.333C>A c.1527C>A (p.Tyr509Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.57903941T>A | CA396058024 | CNGB1 | c.2675A>T (p.Tyr892Phe) c.2657A>T (p.Tyr886Phe) n.332A>T c.1526A>T (p.Tyr509Phe) | |
| 16 | g.57903941T>C | CA396058026 | CNGB1 | c.2675A>G (p.Tyr892Cys) c.2657A>G (p.Tyr886Cys) n.332A>G c.1526A>G (p.Tyr509Cys) | |
| 16 | g.57903941T>G | CA396058028 | CNGB1 | c.2675A>C (p.Tyr892Ser) c.2657A>C (p.Tyr886Ser) n.332A>C c.1526A>C (p.Tyr509Ser) | |
| 16 | g.57903942A>C | CA396058030 | CNGB1 | c.2674T>G (p.Tyr892Asp) c.2656T>G (p.Tyr886Asp) n.331T>G c.1525T>G (p.Tyr509Asp) | |
| 16 | g.57903942A>G | CA396058034 | CNGB1 | c.2674T>C (p.Tyr892His) c.2656T>C (p.Tyr886His) n.331T>C c.1525T>C (p.Tyr509His) | gnomAD v4 |
| 16 | g.57903942A>T | CA396058031 | CNGB1 | c.2674T>A (p.Tyr892Asn) c.2656T>A (p.Tyr886Asn) n.331T>A c.1525T>A (p.Tyr509Asn) | |
| 16 | g.57903943G>A | CA495641750 | CNGB1 | c.2673C>T (p.Thr891=) c.2655C>T (p.Thr885=) n.330C>T c.1524C>T (p.Thr508=) | |
| 16 | g.57903943G>C | CA495641751 | CNGB1 | c.2673C>G (p.Thr891=) c.2655C>G (p.Thr885=) n.330C>G c.1524C>G (p.Thr508=) | |
| 16 | g.57903943G= | CA2224829185 | CNGB1 | c.2673C= (p.Thr891=) c.2655C= (p.Thr885=) n.330C= c.1524C= (p.Thr508=) | |
| 16 | g.57903943G>T | CA495641752 | CNGB1 | c.2673C>A (p.Thr891=) c.2655C>A (p.Thr885=) n.330C>A c.1524C>A (p.Thr508=) | dbSNP |
| 16 | g.57903944G>A | CA396058036 | CNGB1 | c.2672C>T (p.Thr891Ile) c.2654C>T (p.Thr885Ile) n.329C>T c.1523C>T (p.Thr508Ile) | |
| 16 | g.57903944G>C | CA396058038 | CNGB1 | c.2672C>G (p.Thr891Ser) c.2654C>G (p.Thr885Ser) n.329C>G c.1523C>G (p.Thr508Ser) | |
| 16 | g.57903944G= | CA2224829186 | CNGB1 | c.2672C= (p.Thr891=) c.2654C= (p.Thr885=) n.329C= c.1523C= (p.Thr508=) | |
| 16 | g.57903944G>T | CA396058040 | CNGB1 | c.2672C>A (p.Thr891Asn) c.2654C>A (p.Thr885Asn) n.329C>A c.1523C>A (p.Thr508Asn) | |
| 16 | g.57903945T>A | CA396058043 | CNGB1 | c.2671A>T (p.Thr891Ser) c.2653A>T (p.Thr885Ser) n.328A>T c.1522A>T (p.Thr508Ser) | |
| 16 | g.57903945T>C | CA396058046 | CNGB1 | c.2671A>G (p.Thr891Ala) c.2653A>G (p.Thr885Ala) n.328A>G c.1522A>G (p.Thr508Ala) | |
| 16 | g.57903945T>G | CA396058048 | CNGB1 | c.2671A>C (p.Thr891Pro) c.2653A>C (p.Thr885Pro) n.328A>C c.1522A>C (p.Thr508Pro) | |
| 16 | g.57903946_57903947dup | CA722126482 | CNGB1 | c.2670_2671dup (p.Thr891ArgfsTer12) c.2652_2653dup (p.Thr885ArgfsTer12) n.327_328dup c.1521_1522dup (p.Thr508ArgfsTer12) | ClinVar dbSNP |
| 16 | g.57903946C>A | CA396058052 | CNGB1 | c.2670G>T (p.Gln890His) c.2652G>T (p.Gln884His) n.327G>T c.1521G>T (p.Gln507His) | ClinVar |
| 16 | g.57903946C>G | CA396058053 | CNGB1 | c.2670G>C (p.Gln890His) c.2652G>C (p.Gln884His) n.327G>C c.1521G>C (p.Gln507His) | gnomAD v4 |
| 16 | g.57903946C>T | CA495641753 | CNGB1 | c.2670G>A (p.Gln890=) c.2652G>A (p.Gln884=) n.327G>A c.1521G>A (p.Gln507=) | |
| 16 | g.57903947T>A | CA396058054 | CNGB1 | c.2669A>T (p.Gln890Leu) c.2651A>T (p.Gln884Leu) n.326A>T c.1520A>T (p.Gln507Leu) | |
| 16 | g.57903947T>C | CA396058055 | CNGB1 | c.2669A>G (p.Gln890Arg) c.2651A>G (p.Gln884Arg) n.326A>G c.1520A>G (p.Gln507Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903947T>G | CA396058056 | CNGB1 | c.2669A>C (p.Gln890Pro) c.2651A>C (p.Gln884Pro) n.326A>C c.1520A>C (p.Gln507Pro) | |
| 16 | g.57903947T= | CA2224829187 | CNGB1 | c.2669A= (p.Gln890=) c.2651A= (p.Gln884=) n.326A= c.1520A= (p.Gln507=) | |
| 16 | g.57903948G>A | CA396058062 | CNGB1 | c.2668C>T (p.Gln890Ter) c.2650C>T (p.Gln884Ter) n.325C>T c.1519C>T (p.Gln507Ter) | |
| 16 | g.57903948G>C | CA396058063 | CNGB1 | c.2668C>G (p.Gln890Glu) c.2650C>G (p.Gln884Glu) n.325C>G c.1519C>G (p.Gln507Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57903948G= | CA2224829188 | CNGB1 | c.2668C= (p.Gln890=) c.2650C= (p.Gln884=) n.325C= c.1519C= (p.Gln507=) | |
| 16 | g.57903948G>T | CA396058059 | CNGB1 | c.2668C>A (p.Gln890Lys) c.2650C>A (p.Gln884Lys) n.325C>A c.1519C>A (p.Gln507Lys) | |
| 16 | g.57903949T>A | CA495641754 | CNGB1 | c.2667A>T (p.Gly889=) c.2649A>T (p.Gly883=) n.324A>T c.1518A>T (p.Gly506=) | gnomAD v4 |
| 16 | g.57903949T>C | CA495641755 | CNGB1 | c.2667A>G (p.Gly889=) c.2649A>G (p.Gly883=) n.324A>G c.1518A>G (p.Gly506=) | |
| 16 | g.57903949T>G | CA495641756 | CNGB1 | c.2667A>C (p.Gly889=) c.2649A>C (p.Gly883=) n.324A>C c.1518A>C (p.Gly506=) | |
| 16 | g.57903950C>A | CA8082860 | CNGB1 | c.2666G>T (p.Gly889Val) c.2648G>T (p.Gly883Val) n.323G>T c.1517G>T (p.Gly506Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.57903950C= | CA2224829189 | CNGB1 | c.2666G= (p.Gly889=) c.2648G= (p.Gly883=) n.323G= c.1517G= (p.Gly506=) | |
| 16 | g.57903950C>G | CA396058069 | CNGB1 | c.2666G>C (p.Gly889Ala) c.2648G>C (p.Gly883Ala) n.323G>C c.1517G>C (p.Gly506Ala) | |
| 16 | g.57903950C>T | CA396058072 | CNGB1 | c.2666G>A (p.Gly889Glu) c.2648G>A (p.Gly883Glu) n.323G>A c.1517G>A (p.Gly506Glu) | |
| 16 | g.57903951C>A | CA396058075 | CNGB1 | c.2665G>T (p.Gly889Ter) c.2647G>T (p.Gly883Ter) n.322G>T c.1516G>T (p.Gly506Ter) | COSMIC |
| 16 | g.57903951C= | CA2224829190 | CNGB1 | c.2665G= (p.Gly889=) c.2647G= (p.Gly883=) n.322G= c.1516G= (p.Gly506=) | |
| 16 | g.57903951C>G | CA396058077 | CNGB1 | c.2665G>C (p.Gly889Arg) c.2647G>C (p.Gly883Arg) n.322G>C c.1516G>C (p.Gly506Arg) | |
| 16 | g.57903951C>T | CA396058080 | CNGB1 | c.2665G>A (p.Gly889Arg) c.2647G>A (p.Gly883Arg) n.322G>A c.1516G>A (p.Gly506Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903952G>A | CA8082861 | CNGB1 | c.2664C>T (p.Ala888=) c.2646C>T (p.Ala882=) n.321C>T c.1515C>T (p.Ala505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903952G>C | CA179897 | CNGB1 | c.2664C>G (p.Ala888=) c.2646C>G (p.Ala882=) n.321C>G c.1515C>G (p.Ala505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57903952G= | CA2224829191 | CNGB1 | c.2664C= (p.Ala888=) c.2646C= (p.Ala882=) n.321C= c.1515C= (p.Ala505=) | |
| 16 | g.57903952G>T | CA147224 | CNGB1 | c.2664C>A (p.Ala888=) c.2646C>A (p.Ala882=) n.321C>A c.1515C>A (p.Ala505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |