| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
| 8 | g.86670883G>A | CA856342900 | CNGB3 | c.493+61C>T (n.493+61C>T) n.254+61C>T c.79+61C>T (n.79+61C>T) | dbSNP |
| 8 | g.86670883G= | CA1799829457 | CNGB3 | c.493+61C= (n.493+61C=) n.254+61C= c.79+61C= (n.79+61C=) | |
| 8 | g.86670884C>A | CA2687826613 | CNGB3 | c.493+60G>T (n.493+60G>T) n.254+60G>T c.79+60G>T (n.79+60G>T) | gnomAD v4 |
| 8 | g.86670887A>G | CA2687826614 | CNGB3 | c.493+57T>C (n.493+57T>C) n.254+57T>C c.79+57T>C (n.79+57T>C) | gnomAD v4 |
| 8 | g.86670890A= | CA1799829460 | CNGB3 | c.493+54T= (n.493+54T=) n.254+54T= c.79+54T= (n.79+54T=) | |
| 8 | g.86670890A>C | CA856342901 | CNGB3 | c.493+54T>G (n.493+54T>G) n.254+54T>G c.79+54T>G (n.79+54T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670891del | CA2687826615 | CNGB3 | c.493+53del (n.493+53del) n.254+53del c.79+53del (n.79+53del) | gnomAD v4 |
| 8 | g.86670892A>G | CA2687826616 | CNGB3 | c.493+52T>C (n.493+52T>C) n.254+52T>C c.79+52T>C (n.79+52T>C) | gnomAD v4 |
| 8 | g.86670893G>A | CA4800378 | CNGB3 | c.493+51C>T (n.493+51C>T) n.254+51C>T c.79+51C>T (n.79+51C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670893G= | CA1799829467 | CNGB3 | c.493+51C= (n.493+51C=) n.254+51C= c.79+51C= (n.79+51C=) | |
| 8 | g.86670893G>T | CA2687826617 | CNGB3 | c.493+51C>A (n.493+51C>A) n.254+51C>A c.79+51C>A (n.79+51C>A) | gnomAD v4 |
| 8 | g.86670894G>T | CA2687826618 | CNGB3 | c.493+50C>A (n.493+50C>A) n.254+50C>A c.79+50C>A (n.79+50C>A) | gnomAD v4 |
| 8 | g.86670895T>A | CA2579200165 | CNGB3 | c.493+49A>T (n.493+49A>T) n.254+49A>T c.79+49A>T (n.79+49A>T) | gnomAD v4 |
| 8 | g.86670896C>A | CA2687826619 | CNGB3 | c.493+48G>T (n.493+48G>T) n.254+48G>T c.79+48G>T (n.79+48G>T) | gnomAD v4 |
| 8 | g.86670897C= | CA1799829477 | CNGB3 | c.493+47G= (n.493+47G=) n.254+47G= c.79+47G= (n.79+47G=) | |
| 8 | g.86670897C>T | CA4800379 | CNGB3 | c.493+47G>A (n.493+47G>A) n.254+47G>A c.79+47G>A (n.79+47G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670898C>G | CA2687826620 | CNGB3 | c.493+46G>C (n.493+46G>C) n.254+46G>C c.79+46G>C (n.79+46G>C) | gnomAD v4 |
| 8 | g.86670899C>A | CA4800380 | CNGB3 | c.493+45G>T (n.493+45G>T) n.254+45G>T c.79+45G>T (n.79+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670899C= | CA1799829485 | CNGB3 | c.493+45G= (n.493+45G=) n.254+45G= c.79+45G= (n.79+45G=) | |
| 8 | g.86670901C= | CA1799829486 | CNGB3 | c.493+43G= (n.493+43G=) n.254+43G= c.79+43G= (n.79+43G=) | |
| 8 | g.86670901C>T | CA4800381 | CNGB3 | c.493+43G>A (n.493+43G>A) n.254+43G>A c.79+43G>A (n.79+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670903G>T | CA2687826621 | CNGB3 | c.493+41C>A (n.493+41C>A) n.254+41C>A c.79+41C>A (n.79+41C>A) | gnomAD v4 |
| 8 | g.86670904C= | CA1799829487 | CNGB3 | c.493+40G= (n.493+40G=) n.254+40G= c.79+40G= (n.79+40G=) | |
| 8 | g.86670904C>G | CA2687826622 | CNGB3 | c.493+40G>C (n.493+40G>C) n.254+40G>C c.79+40G>C (n.79+40G>C) | gnomAD v4 |
| 8 | g.86670904C>T | CA856342905 | CNGB3 | c.493+40G>A (n.493+40G>A) n.254+40G>A c.79+40G>A (n.79+40G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670906_86670910delinsCTTCT | CA1799829490 | CNGB3 | c.493+34_493+38delinsAGAAG (n.493+34_493+38delinsAGAAG) n.254+34_254+38delinsAGAAG c.79+34_79+38delinsAGAAG (n.79+34_79+38delinsAGAAG) | |
| 8 | g.86670907T>A | CA2687826623 | CNGB3 | c.493+37A>T (n.493+37A>T) n.254+37A>T c.79+37A>T (n.79+37A>T) | gnomAD v4 |
| 8 | g.86670907T>C | CA1799829497 | CNGB3 | c.493+37A>G (n.493+37A>G) n.254+37A>G c.79+37A>G (n.79+37A>G) | dbSNP gnomAD v4 |
| 8 | g.86670907T>G | CA4800382 | CNGB3 | c.493+37A>C (n.493+37A>C) n.254+37A>C c.79+37A>C (n.79+37A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670907T= | CA1799829495 | CNGB3 | c.493+37A= (n.493+37A=) n.254+37A= c.79+37A= (n.79+37A=) | |
| 8 | g.86670912_86670915del | CA583366209 | CNGB3 | c.493+34_493+37del (n.493+34_493+37del) n.254+34_254+37del c.79+34_79+37del (n.79+34_79+37del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670914T>C | CA2687826624 | CNGB3 | c.493+30A>G (n.493+30A>G) n.254+30A>G c.79+30A>G (n.79+30A>G) | gnomAD v4 |
| 8 | g.86670915T>A | CA1799829510 | CNGB3 | c.493+29A>T (n.493+29A>T) n.254+29A>T c.79+29A>T (n.79+29A>T) | dbSNP |
| 8 | g.86670915T>C | CA4800384 | CNGB3 | c.493+29A>G (n.493+29A>G) n.254+29A>G c.79+29A>G (n.79+29A>G) | dbSNP ExAC gnomAD v2 |
| 8 | g.86670915T= | CA1799829506 | CNGB3 | c.493+29A= (n.493+29A=) n.254+29A= c.79+29A= (n.79+29A=) | |
| 8 | g.86670915_86670916delinsTC | CA1799829509 | CNGB3 | c.493+28_493+29delinsGA (n.493+28_493+29delinsGA) n.254+28_254+29delinsGA c.79+28_79+29delinsGA (n.79+28_79+29delinsGA) | |
| 8 | g.86670916C= | CA1799829516 | CNGB3 | c.493+28G= (n.493+28G=) n.254+28G= c.79+28G= (n.79+28G=) | |
| 8 | g.86670916C>T | CA1799829519 | CNGB3 | c.493+28G>A (n.493+28G>A) n.254+28G>A c.79+28G>A (n.79+28G>A) | dbSNP |
| 8 | g.86670918del | CA4800383 | CNGB3 | c.493+28del (n.493+28del) n.254+28del c.79+28del (n.79+28del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670917C>T | CA2687826625 | CNGB3 | c.493+27G>A (n.493+27G>A) n.254+27G>A c.79+27G>A (n.79+27G>A) | gnomAD v4 |
| 8 | g.86670918C>A | CA2687826627 | CNGB3 | c.493+26G>T (n.493+26G>T) n.254+26G>T c.79+26G>T (n.79+26G>T) | gnomAD v4 |
| 8 | g.86670920G>C | CA856342912 | CNGB3 | c.493+24C>G (n.493+24C>G) n.254+24C>G c.79+24C>G (n.79+24C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670920G= | CA1799829520 | CNGB3 | c.493+24C= (n.493+24C=) n.254+24C= c.79+24C= (n.79+24C=) | |
| 8 | g.86670921T>C | CA4800386 | CNGB3 | c.493+23A>G (n.493+23A>G) n.254+23A>G c.79+23A>G (n.79+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670921T>G | CA4800385 | CNGB3 | c.493+23A>C (n.493+23A>C) n.254+23A>C c.79+23A>C (n.79+23A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670921T= | CA1799829526 | CNGB3 | c.493+23A= (n.493+23A=) n.254+23A= c.79+23A= (n.79+23A=) | |
| 8 | g.86670922A>C | CA2687826628 | CNGB3 | c.493+22T>G (n.493+22T>G) n.254+22T>G c.79+22T>G (n.79+22T>G) | gnomAD v4 |
| 8 | g.86670922A>G | CA2687826629 | CNGB3 | c.493+22T>C (n.493+22T>C) n.254+22T>C c.79+22T>C (n.79+22T>C) | gnomAD v4 |
| 8 | g.86670923C>T | CA2687826630 | CNGB3 | c.493+21G>A (n.493+21G>A) n.254+21G>A c.79+21G>A (n.79+21G>A) | gnomAD v4 |
| 8 | g.86670924T>C | CA2687826631 | CNGB3 | c.493+20A>G (n.493+20A>G) n.254+20A>G c.79+20A>G (n.79+20A>G) | gnomAD v4 |
| 8 | g.86670926G>A | CA652506938 | CNGB3 | c.493+18C>T (n.493+18C>T) n.254+18C>T c.79+18C>T (n.79+18C>T) | COSMIC |
| 8 | g.86670926G>T | CA2579200167 | CNGB3 | c.493+18C>A (n.493+18C>A) n.254+18C>A c.79+18C>A (n.79+18C>A) | |
| 8 | g.86670930_86670933del | CA2579200166 | CNGB3 | c.493+15_493+18del (n.493+15_493+18del) n.254+15_254+18del c.79+15_79+18del (n.79+15_79+18del) | |
| 8 | g.86670927G>A | CA583366210 | CNGB3 | c.493+17C>T (n.493+17C>T) n.254+17C>T c.79+17C>T (n.79+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670927G= | CA1799829533 | CNGB3 | c.493+17C= (n.493+17C=) n.254+17C= c.79+17C= (n.79+17C=) | |
| 8 | g.86670927G>T | CA2687826632 | CNGB3 | c.493+17C>A (n.493+17C>A) n.254+17C>A c.79+17C>A (n.79+17C>A) | ClinVar gnomAD v4 |
| 8 | g.86670930G>A | CA4800387 | CNGB3 | c.493+14C>T (n.493+14C>T) n.254+14C>T c.79+14C>T (n.79+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670930G= | CA1799829537 | CNGB3 | c.493+14C= (n.493+14C=) n.254+14C= c.79+14C= (n.79+14C=) | |
| 8 | g.86670931G>A | CA2580078966 | CNGB3 | c.493+13C>T (n.493+13C>T) n.254+13C>T c.79+13C>T (n.79+13C>T) | ClinVar |
| 8 | g.86670931G>C | CA180366414 | CNGB3 | c.493+13C>G (n.493+13C>G) n.254+13C>G c.79+13C>G (n.79+13C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670931G= | CA1799829540 | CNGB3 | c.493+13C= (n.493+13C=) n.254+13C= c.79+13C= (n.79+13C=) | |
| 8 | g.86670932A= | CA1799829541 | CNGB3 | c.493+12T= (n.493+12T=) n.254+12T= c.79+12T= (n.79+12T=) | |
| 8 | g.86670932A>G | CA1799829542 | CNGB3 | c.493+12T>C (n.493+12T>C) n.254+12T>C c.79+12T>C (n.79+12T>C) | ClinVar dbSNP |
| 8 | g.86670933G>A | CA4800388 | CNGB3 | c.493+11C>T (n.493+11C>T) n.254+11C>T c.79+11C>T (n.79+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670933G= | CA1799829543 | CNGB3 | c.493+11C= (n.493+11C=) n.254+11C= c.79+11C= (n.79+11C=) | |
| 8 | g.86670933G>T | CA180366426 | CNGB3 | c.493+11C>A (n.493+11C>A) n.254+11C>A c.79+11C>A (n.79+11C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670935A= | CA1799829545 | CNGB3 | c.493+9T= (n.493+9T=) n.254+9T= c.79+9T= (n.79+9T=) | |
| 8 | g.86670935A>C | CA2781156447 | CNGB3 | c.493+9T>G (n.493+9T>G) n.254+9T>G c.79+9T>G (n.79+9T>G) | |
| 8 | g.86670935A>G | CA583366211 | CNGB3 | c.493+9T>C (n.493+9T>C) n.254+9T>C c.79+9T>C (n.79+9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670937T>C | CA2580078970 | CNGB3 | c.493+7A>G (n.493+7A>G) n.254+7A>G c.79+7A>G (n.79+7A>G) | ClinVar |
| 8 | g.86670939C>T | CA2601509640 | CNGB3 | c.493+5G>A (n.493+5G>A) n.254+5G>A c.79+5G>A (n.79+5G>A) | gnomAD v3 gnomAD v4 |
| 8 | g.86670941T>C | CA2687826633 | CNGB3 | c.493+3A>G (n.493+3A>G) n.254+3A>G c.79+3A>G (n.79+3A>G) | gnomAD v4 |
| 8 | g.86670942A>C | CA371450018 | CNGB3 | c.493+2T>G (n.493+2T>G) n.254+2T>G c.79+2T>G (n.79+2T>G) | |
| 8 | g.86670942A>G | CA371450019 | CNGB3 | c.493+2T>C (n.493+2T>C) n.254+2T>C c.79+2T>C (n.79+2T>C) | |
| 8 | g.86670942A>T | CA371450020 | CNGB3 | c.493+2T>A (n.493+2T>A) n.254+2T>A c.79+2T>A (n.79+2T>A) | |
| 8 | g.86670943C>A | CA371450023 | CNGB3 | c.493+1G>T (n.493+1G>T) n.254+1G>T c.79+1G>T (n.79+1G>T) | ClinVar |
| 8 | g.86670943C>G | CA371450022 | CNGB3 | c.493+1G>C (n.493+1G>C) n.254+1G>C c.79+1G>C (n.79+1G>C) | ClinVar dbSNP |
| 8 | g.86670943C>T | CA371450021 | CNGB3 | c.493+1G>A (n.493+1G>A) n.254+1G>A c.79+1G>A (n.79+1G>A) | ClinVar |
| 8 | g.86670944del | CA2781156448 | CNGB3 | c.493+1del n.254+1del c.79+1del | |
| 8 | g.86670944C>A | CA371450024 | CNGB3 | c.493G>T (p.Ala165Ser) n.254G>T c.79G>T (p.Ala27Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670944C= | CA1799829551 | CNGB3 | c.493G= (p.Ala165=) n.254G= c.79G= (p.Ala27=) | |
| 8 | g.86670944C>G | CA371450026 | CNGB3 | c.493G>C (p.Ala165Pro) n.254G>C c.79G>C (p.Ala27Pro) | |
| 8 | g.86670944C>T | CA371450025 | CNGB3 | c.493G>A (p.Ala165Thr) n.254G>A c.79G>A (p.Ala27Thr) | |
| 8 | g.86670945A>C | CA461831174 | CNGB3 | c.492T>G (p.Thr164=) n.253T>G c.78T>G (p.Thr26=) | |
| 8 | g.86670945A>G | CA461831175 | CNGB3 | c.492T>C (p.Thr164=) n.253T>C c.78T>C (p.Thr26=) | |
| 8 | g.86670945A>T | CA461831176 | CNGB3 | c.492T>A (p.Thr164=) n.253T>A c.78T>A (p.Thr26=) | |
| 8 | g.86670946G>A | CA371450027 | CNGB3 | c.491C>T (p.Thr164Ile) n.252C>T c.77C>T (p.Thr26Ile) | |
| 8 | g.86670946G>C | CA371450028 | CNGB3 | c.491C>G (p.Thr164Ser) n.252C>G c.77C>G (p.Thr26Ser) | |
| 8 | g.86670946G>T | CA371450029 | CNGB3 | c.491C>A (p.Thr164Asn) n.252C>A c.77C>A (p.Thr26Asn) | gnomAD v4 |
| 8 | g.86670947T>A | CA371450030 | CNGB3 | c.490A>T (p.Thr164Ser) n.251A>T c.76A>T (p.Thr26Ser) | |
| 8 | g.86670947T>C | CA371450031 | CNGB3 | c.490A>G (p.Thr164Ala) n.251A>G c.76A>G (p.Thr26Ala) | dbSNP |
| 8 | g.86670947T>G | CA371450032 | CNGB3 | c.490A>C (p.Thr164Pro) n.251A>C c.76A>C (p.Thr26Pro) | |
| 8 | g.86670947T= | CA1799829560 | CNGB3 | c.490A= (p.Thr164=) n.251A= c.76A= (p.Thr26=) | |
| 8 | g.86670948T>A | CA4800389 | CNGB3 | c.489A>T (p.Gln163His) n.250A>T c.75A>T (p.Gln25His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670948T>C | CA461831177 | CNGB3 | c.489A>G (p.Gln163=) n.250A>G c.75A>G (p.Gln25=) | ClinVar |
| 8 | g.86670948T>G | CA371450033 | CNGB3 | c.489A>C (p.Gln163His) n.250A>C c.75A>C (p.Gln25His) | |
| 8 | g.86670948T= | CA1799829565 | CNGB3 | c.489A= (p.Gln163=) n.250A= c.75A= (p.Gln25=) | |
| 8 | g.86670948_86670949insC | CA2687826635 | CNGB3 | c.488_489insG (p.Thr164AsnfsTer15) n.249_250insG c.74_75insG (p.Thr26AsnfsTer15) | gnomAD v4 |
| 8 | g.86670949T>A | CA371450034 | CNGB3 | c.488A>T (p.Gln163Leu) n.249A>T c.74A>T (p.Gln25Leu) | |
| 8 | g.86670949T>C | CA371450035 | CNGB3 | c.488A>G (p.Gln163Arg) n.249A>G c.74A>G (p.Gln25Arg) | |
| 8 | g.86670949T>G | CA371450036 | CNGB3 | c.488A>C (p.Gln163Pro) n.249A>C c.74A>C (p.Gln25Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670949T= | CA1799829577 | CNGB3 | c.488A= (p.Gln163=) n.249A= c.74A= (p.Gln25=) | |
| 8 | g.86670950G>A | CA371450039 | CNGB3 | c.487C>T (p.Gln163Ter) n.248C>T c.73C>T (p.Gln25Ter) | |
| 8 | g.86670950G>C | CA371450037 | CNGB3 | c.487C>G (p.Gln163Glu) n.248C>G c.73C>G (p.Gln25Glu) | |
| 8 | g.86670950G>T | CA371450038 | CNGB3 | c.487C>A (p.Gln163Lys) n.248C>A c.73C>A (p.Gln25Lys) | |
| 8 | g.86670951T>A | CA461831178 | CNGB3 | c.486A>T (p.Pro162=) n.247A>T c.72A>T (p.Pro24=) | |
| 8 | g.86670951T>C | CA461831179 | CNGB3 | c.486A>G (p.Pro162=) n.247A>G c.72A>G (p.Pro24=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670951T>G | CA461831180 | CNGB3 | c.486A>C (p.Pro162=) n.247A>C c.72A>C (p.Pro24=) | |
| 8 | g.86670952G>A | CA371450040 | CNGB3 | c.485C>T (p.Pro162Leu) n.246C>T c.71C>T (p.Pro24Leu) | gnomAD v4 |
| 8 | g.86670952G>C | CA371450041 | CNGB3 | c.485C>G (p.Pro162Arg) n.246C>G c.71C>G (p.Pro24Arg) | |
| 8 | g.86670952G>T | CA371450042 | CNGB3 | c.485C>A (p.Pro162Gln) n.246C>A c.71C>A (p.Pro24Gln) | |
| 8 | g.86670954dup | CA2579200168 | CNGB3 | c.485dup (p.Gln163ThrfsTer16) n.246dup c.71dup (p.Gln25ThrfsTer16) | |
| 8 | g.86670953G>A | CA371450043 | CNGB3 | c.484C>T (p.Pro162Ser) n.245C>T c.70C>T (p.Pro24Ser) | |
| 8 | g.86670953G>C | CA371450044 | CNGB3 | c.484C>G (p.Pro162Ala) n.245C>G c.70C>G (p.Pro24Ala) | |
| 8 | g.86670953G>T | CA371450045 | CNGB3 | c.484C>A (p.Pro162Thr) n.245C>A c.70C>A (p.Pro24Thr) | |
| 8 | g.86670954G>A | CA461831181 | CNGB3 | c.483C>T (p.Ser161=) n.244C>T c.69C>T (p.Ser23=) | |
| 8 | g.86670954G>C | CA371450046 | CNGB3 | c.483C>G (p.Ser161Arg) n.244C>G c.69C>G (p.Ser23Arg) | |
| 8 | g.86670954G>T | CA371450047 | CNGB3 | c.483C>A (p.Ser161Arg) n.244C>A c.69C>A (p.Ser23Arg) | |
| 8 | g.86670955C>A | CA371450048 | CNGB3 | c.482G>T (p.Ser161Ile) n.243G>T c.68G>T (p.Ser23Ile) | |
| 8 | g.86670955C>G | CA371450049 | CNGB3 | c.482G>C (p.Ser161Thr) n.243G>C c.68G>C (p.Ser23Thr) | |
| 8 | g.86670955C>T | CA371450050 | CNGB3 | c.482G>A (p.Ser161Asn) n.243G>A c.68G>A (p.Ser23Asn) | |
| 8 | g.86670956T>A | CA371450052 | CNGB3 | c.481A>T (p.Ser161Cys) n.242A>T c.67A>T (p.Ser23Cys) | |
| 8 | g.86670956T>C | CA371450053 | CNGB3 | c.481A>G (p.Ser161Gly) n.242A>G c.67A>G (p.Ser23Gly) | |
| 8 | g.86670956T>G | CA371450051 | CNGB3 | c.481A>C (p.Ser161Arg) n.242A>C c.67A>C (p.Ser23Arg) | |
| 8 | g.86670957G>A | CA461831184 | CNGB3 | c.480C>T (p.Ala160=) n.241C>T c.66C>T (p.Ala22=) | |
| 8 | g.86670957G>C | CA461831183 | CNGB3 | c.480C>G (p.Ala160=) n.241C>G c.66C>G (p.Ala22=) | ClinVar gnomAD v4 |
| 8 | g.86670957G= | CA1799829581 | CNGB3 | c.480C= (p.Ala160=) n.241C= c.66C= (p.Ala22=) | |
| 8 | g.86670957G>T | CA461831182 | CNGB3 | c.480C>A (p.Ala160=) n.241C>A c.66C>A (p.Ala22=) | dbSNP |
| 8 | g.86670958G>A | CA4800390 | CNGB3 | c.479C>T (p.Ala160Val) n.240C>T c.65C>T (p.Ala22Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670958G>C | CA371450054 | CNGB3 | c.479C>G (p.Ala160Gly) n.240C>G c.65C>G (p.Ala22Gly) | |
| 8 | g.86670958G= | CA1799829586 | CNGB3 | c.479C= (p.Ala160=) n.240C= c.65C= (p.Ala22=) | |
| 8 | g.86670958G>T | CA371450055 | CNGB3 | c.479C>A (p.Ala160Asp) n.240C>A c.65C>A (p.Ala22Asp) | gnomAD v4 |
| 8 | g.86670959C>A | CA371450056 | CNGB3 | c.478G>T (p.Ala160Ser) n.239G>T c.64G>T (p.Ala22Ser) | |
| 8 | g.86670959C>G | CA371450057 | CNGB3 | c.478G>C (p.Ala160Pro) n.239G>C c.64G>C (p.Ala22Pro) | |
| 8 | g.86670959C>T | CA371450058 | CNGB3 | c.478G>A (p.Ala160Thr) n.239G>A c.64G>A (p.Ala22Thr) | |
| 8 | g.86670960T>A | CA371450060 | CNGB3 | c.477A>T (p.Glu159Asp) n.238A>T c.63A>T (p.Glu21Asp) | |
| 8 | g.86670960T>C | CA461831185 | CNGB3 | c.477A>G (p.Glu159=) n.238A>G c.63A>G (p.Glu21=) | |
| 8 | g.86670960T>G | CA371450059 | CNGB3 | c.477A>C (p.Glu159Asp) n.238A>C c.63A>C (p.Glu21Asp) | COSMIC |
| 8 | g.86670961T>A | CA180366454 | CNGB3 | c.476A>T (p.Glu159Val) n.237A>T c.62A>T (p.Glu21Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670961T>C | CA371450061 | CNGB3 | c.476A>G (p.Glu159Gly) n.237A>G c.62A>G (p.Glu21Gly) | |
| 8 | g.86670961T>G | CA371450062 | CNGB3 | c.476A>C (p.Glu159Ala) n.237A>C c.62A>C (p.Glu21Ala) | |
| 8 | g.86670961T= | CA1799829591 | CNGB3 | c.476A= (p.Glu159=) n.237A= c.62A= (p.Glu21=) | |
| 8 | g.86670962C>A | CA371450063 | CNGB3 | c.475G>T (p.Glu159Ter) n.236G>T c.61G>T (p.Glu21Ter) | |
| 8 | g.86670962C= | CA1799829603 | CNGB3 | c.475G= (p.Glu159=) n.236G= c.61G= (p.Glu21=) | |
| 8 | g.86670962C>G | CA371450064 | CNGB3 | c.475G>C (p.Glu159Gln) n.236G>C c.61G>C (p.Glu21Gln) | |
| 8 | g.86670962C>T | CA4800391 | CNGB3 | c.475G>A (p.Glu159Lys) n.236G>A c.61G>A (p.Glu21Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86670963G>A | CA4800392 | CNGB3 | c.474C>T (p.Pro158=) n.235C>T c.60C>T (p.Pro20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670963G>C | CA180366486 | CNGB3 | c.474C>G (p.Pro158=) n.235C>G c.60C>G (p.Pro20=) | ClinVar dbSNP |
| 8 | g.86670963G= | CA1799829622 | CNGB3 | c.474C= (p.Pro158=) n.235C= c.60C= (p.Pro20=) | |
| 8 | g.86670963G>T | CA4800393 | CNGB3 | c.474C>A (p.Pro158=) n.235C>A c.60C>A (p.Pro20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670964G>A | CA371450065 | CNGB3 | c.473C>T (p.Pro158Leu) n.234C>T c.59C>T (p.Pro20Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670964G>C | CA371450066 | CNGB3 | c.473C>G (p.Pro158Arg) n.234C>G c.59C>G (p.Pro20Arg) | |
| 8 | g.86670964G= | CA1799829631 | CNGB3 | c.473C= (p.Pro158=) n.234C= c.59C= (p.Pro20=) | |
| 8 | g.86670964G>T | CA371450067 | CNGB3 | c.473C>A (p.Pro158His) n.234C>A c.59C>A (p.Pro20His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670965G>A | CA371450068 | CNGB3 | c.472C>T (p.Pro158Ser) n.233C>T c.58C>T (p.Pro20Ser) | gnomAD v4 |
| 8 | g.86670965G>C | CA371450069 | CNGB3 | c.472C>G (p.Pro158Ala) n.233C>G c.58C>G (p.Pro20Ala) | |
| 8 | g.86670965G>T | CA371450070 | CNGB3 | c.472C>A (p.Pro158Thr) n.233C>A c.58C>A (p.Pro20Thr) | gnomAD v4 |
| 8 | g.86670966T>A | CA461831186 | CNGB3 | c.471A>T (p.Ser157=) n.232A>T c.57A>T (p.Ser19=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670966T>C | CA461831187 | CNGB3 | c.471A>G (p.Ser157=) n.232A>G c.57A>G (p.Ser19=) | |
| 8 | g.86670966T>G | CA461831188 | CNGB3 | c.471A>C (p.Ser157=) n.232A>C c.57A>C (p.Ser19=) | |
| 8 | g.86670966T= | CA1799829639 | CNGB3 | c.471A= (p.Ser157=) n.232A= c.57A= (p.Ser19=) | |
| 8 | g.86670967G>A | CA371450071 | CNGB3 | c.470C>T (p.Ser157Leu) n.231C>T c.56C>T (p.Ser19Leu) | |
| 8 | g.86670967G>C | CA371450072 | CNGB3 | c.470C>G (p.Ser157Ter) n.231C>G c.56C>G (p.Ser19Ter) | |
| 8 | g.86670967G>T | CA371450073 | CNGB3 | c.470C>A (p.Ser157Ter) n.231C>A c.56C>A (p.Ser19Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670970_86670974del | CA2687826638 | CNGB3 | c.466_470del (p.Ser156ThrfsTer21) n.227_231del c.52_56del (p.Ser18ThrfsTer21) | gnomAD v4 |
| 8 | g.86670968A>C | CA371450074 | CNGB3 | c.469T>G (p.Ser157Ala) n.230T>G c.55T>G (p.Ser19Ala) | |
| 8 | g.86670968A>G | CA371450075 | CNGB3 | c.469T>C (p.Ser157Pro) n.230T>C c.55T>C (p.Ser19Pro) | |
| 8 | g.86670968A>T | CA371450076 | CNGB3 | c.469T>A (p.Ser157Thr) n.230T>A c.55T>A (p.Ser19Thr) | |
| 8 | g.86670969G>A | CA461831190 | CNGB3 | c.468C>T (p.Ser156=) n.229C>T c.54C>T (p.Ser18=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86670969G>C | CA461831191 | CNGB3 | c.468C>G (p.Ser156=) n.229C>G c.54C>G (p.Ser18=) | |
| 8 | g.86670969G= | CA1799829652 | CNGB3 | c.468C= (p.Ser156=) n.229C= c.54C= (p.Ser18=) | |
| 8 | g.86670969G>T | CA461831192 | CNGB3 | c.468C>A (p.Ser156=) n.229C>A c.54C>A (p.Ser18=) | |
| 8 | g.86670970G>A | CA4800394 | CNGB3 | c.467C>T (p.Ser156Phe) n.228C>T c.53C>T (p.Ser18Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670970G>C | CA371450078 | CNGB3 | c.467C>G (p.Ser156Cys) n.228C>G c.53C>G (p.Ser18Cys) | |
| 8 | g.86670970G= | CA1799829665 | CNGB3 | c.467C= (p.Ser156=) n.228C= c.53C= (p.Ser18=) | |
| 8 | g.86670970G>T | CA371450077 | CNGB3 | c.467C>A (p.Ser156Tyr) n.228C>A c.53C>A (p.Ser18Tyr) | |
| 8 | g.86670971A= | CA1799829677 | CNGB3 | c.466T= (p.Ser156=) n.227T= c.52T= (p.Ser18=) | |
| 8 | g.86670971A>C | CA371450079 | CNGB3 | c.466T>G (p.Ser156Ala) n.227T>G c.52T>G (p.Ser18Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670971A>G | CA371450081 | CNGB3 | c.466T>C (p.Ser156Pro) n.227T>C c.52T>C (p.Ser18Pro) | |
| 8 | g.86670971A>T | CA371450080 | CNGB3 | c.466T>A (p.Ser156Thr) n.227T>A c.52T>A (p.Ser18Thr) | |
| 8 | g.86670972G>A | CA461831194 | CNGB3 | c.465C>T (p.Leu155=) n.226C>T c.51C>T (p.Leu17=) | ClinVar |
| 8 | g.86670972G>C | CA180366511 | CNGB3 | c.465C>G (p.Leu155=) n.226C>G c.51C>G (p.Leu17=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670972G= | CA1799829680 | CNGB3 | c.465C= (p.Leu155=) n.226C= c.51C= (p.Leu17=) | |
| 8 | g.86670972G>T | CA461831196 | CNGB3 | c.465C>A (p.Leu155=) n.226C>A c.51C>A (p.Leu17=) | |
| 8 | g.86670973A>C | CA371450082 | CNGB3 | c.464T>G (p.Leu155Arg) n.225T>G c.50T>G (p.Leu17Arg) | |
| 8 | g.86670973A>G | CA371450083 | CNGB3 | c.464T>C (p.Leu155Pro) n.225T>C c.50T>C (p.Leu17Pro) | |
| 8 | g.86670973A>T | CA371450084 | CNGB3 | c.464T>A (p.Leu155His) n.225T>A c.50T>A (p.Leu17His) | |
| 8 | g.86670974G>A | CA371450085 | CNGB3 | c.463C>T (p.Leu155Phe) n.224C>T c.49C>T (p.Leu17Phe) | gnomAD v4 |
| 8 | g.86670974G>C | CA371450086 | CNGB3 | c.463C>G (p.Leu155Val) n.224C>G c.49C>G (p.Leu17Val) | gnomAD v4 |
| 8 | g.86670974G>T | CA371450087 | CNGB3 | c.463C>A (p.Leu155Ile) n.224C>A c.49C>A (p.Leu17Ile) | |
| 8 | g.86670975A>C | CA371450088 | CNGB3 | c.462T>G (p.Asp154Glu) n.223T>G c.48T>G (p.Asp16Glu) | |
| 8 | g.86670975A>G | CA461831198 | CNGB3 | c.462T>C (p.Asp154=) n.223T>C c.48T>C (p.Asp16=) | |
| 8 | g.86670975A>T | CA371450089 | CNGB3 | c.462T>A (p.Asp154Glu) n.223T>A c.48T>A (p.Asp16Glu) | |
| 8 | g.86670976T>A | CA371450090 | CNGB3 | c.461A>T (p.Asp154Val) n.222A>T c.47A>T (p.Asp16Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670976T>C | CA371450092 | CNGB3 | c.461A>G (p.Asp154Gly) n.222A>G c.47A>G (p.Asp16Gly) | COSMIC |
| 8 | g.86670976T>G | CA371450091 | CNGB3 | c.461A>C (p.Asp154Ala) n.222A>C c.47A>C (p.Asp16Ala) | gnomAD v4 |
| 8 | g.86670976T= | CA1799829688 | CNGB3 | c.461A= (p.Asp154=) n.222A= c.47A= (p.Asp16=) | |
| 8 | g.86670977C>A | CA371450093 | CNGB3 | c.460G>T (p.Asp154Tyr) n.221G>T c.46G>T (p.Asp16Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670977C= | CA1799829694 | CNGB3 | c.460G= (p.Asp154=) n.221G= c.46G= (p.Asp16=) | |
| 8 | g.86670977C>G | CA371450094 | CNGB3 | c.460G>C (p.Asp154His) n.221G>C c.46G>C (p.Asp16His) | |
| 8 | g.86670977C>T | CA371450095 | CNGB3 | c.460G>A (p.Asp154Asn) n.221G>A c.46G>A (p.Asp16Asn) | |
| 8 | g.86670978T>A | CA461831201 | CNGB3 | c.459A>T (p.Gly153=) n.220A>T c.45A>T (p.Gly15=) | gnomAD v4 |
| 8 | g.86670978T>C | CA461831203 | CNGB3 | c.459A>G (p.Gly153=) n.220A>G c.45A>G (p.Gly15=) | ClinVar dbSNP |
| 8 | g.86670978T>G | CA4800395 | CNGB3 | c.459A>C (p.Gly153=) n.220A>C c.45A>C (p.Gly15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670978T= | CA1799829706 | CNGB3 | c.459A= (p.Gly153=) n.220A= c.45A= (p.Gly15=) | |
| 8 | g.86670979C>A | CA371450096 | CNGB3 | c.458G>T (p.Gly153Val) n.219G>T c.44G>T (p.Gly15Val) | gnomAD v4 COSMIC |
| 8 | g.86670979C>G | CA371450098 | CNGB3 | c.458G>C (p.Gly153Ala) n.219G>C c.44G>C (p.Gly15Ala) | |
| 8 | g.86670979C>T | CA371450097 | CNGB3 | c.458G>A (p.Gly153Glu) n.219G>A c.44G>A (p.Gly15Glu) | gnomAD v4 COSMIC |
| 8 | g.86670980C>A | CA371450099 | CNGB3 | c.457G>T (p.Gly153Ter) n.218G>T c.43G>T (p.Gly15Ter) | |
| 8 | g.86670980C>G | CA371450100 | CNGB3 | c.457G>C (p.Gly153Arg) n.218G>C c.43G>C (p.Gly15Arg) | |
| 8 | g.86670980C>T | CA371450101 | CNGB3 | c.457G>A (p.Gly153Arg) n.218G>A c.43G>A (p.Gly15Arg) | gnomAD v4 |
| 8 | g.86670981C>A | CA371450102 | CNGB3 | c.456G>T (p.Glu152Asp) n.217G>T c.42G>T (p.Glu14Asp) | COSMIC |
| 8 | g.86670981C= | CA1799829714 | CNGB3 | c.456G= (p.Glu152=) n.217G= c.42G= (p.Glu14=) | |
| 8 | g.86670981C>G | CA371450103 | CNGB3 | c.456G>C (p.Glu152Asp) n.217G>C c.42G>C (p.Glu14Asp) | |
| 8 | g.86670981C>T | CA461831207 | CNGB3 | c.456G>A (p.Glu152=) n.217G>A c.42G>A (p.Glu14=) | dbSNP COSMIC |