Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
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.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) |