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 |
|---|---|---|---|---|---|
| 8 | g.86643714del | CA4800127 | CNGB3 | c.1178+41del (n.1178+41del) n.998+41del c.764+41del (n.764+41del) | dbSNP ExAC gnomAD v2 |
| 8 | g.86643713A= | CA1799825592 | CNGB3 | c.1178+38T= (n.1178+38T=) n.998+38T= c.764+38T= (n.764+38T=) | |
| 8 | g.86643713A>T | CA1799825593 | CNGB3 | c.1178+38T>A (n.1178+38T>A) n.998+38T>A c.764+38T>A (n.764+38T>A) | dbSNP |
| 8 | g.86643714A>T | CA2781150519 | CNGB3 | c.1178+37T>A (n.1178+37T>A) n.998+37T>A c.764+37T>A (n.764+37T>A) | |
| 8 | g.86643715del | CA2687825193 | CNGB3 | c.1178+36del (n.1178+36del) n.998+36del c.764+36del (n.764+36del) | gnomAD v4 |
| 8 | g.86643715T>G | CA2687825194 | CNGB3 | c.1178+36A>C (n.1178+36A>C) n.998+36A>C c.764+36A>C (n.764+36A>C) | gnomAD v4 |
| 8 | g.86643715_86643724delinsTAATCAATAA | CA1799825594 | CNGB3 | c.1178+27_1178+36delinsTTATTGATTA (n.1178+27_1178+36delinsTTATTGATTA) n.998+27_998+36delinsTTATTGATTA c.764+27_764+36delinsTTATTGATTA (n.764+27_764+36delinsTTATTGATTA) | |
| 8 | g.86643717_86643725del | CA4800129 | CNGB3 | c.1178+27_1178+35del (n.1178+27_1178+35del) n.998+27_998+35del c.764+27_764+35del (n.764+27_764+35del) | dbSNP ExAC gnomAD v2 |
| 8 | g.86643717A>G | CA2687825195 | CNGB3 | c.1178+34T>C (n.1178+34T>C) n.998+34T>C c.764+34T>C (n.764+34T>C) | gnomAD v4 |
| 8 | g.86643718T>C | CA2687825196 | CNGB3 | c.1178+33A>G (n.1178+33A>G) n.998+33A>G c.764+33A>G (n.764+33A>G) | gnomAD v4 |
| 8 | g.86643719C>T | CA2579200028 | CNGB3 | c.1178+32G>A (n.1178+32G>A) n.998+32G>A c.764+32G>A (n.764+32G>A) | |
| 8 | g.86643720A= | CA1799825595 | CNGB3 | c.1178+31T= (n.1178+31T=) n.998+31T= c.764+31T= (n.764+31T=) | |
| 8 | g.86643720A>G | CA4800130 | CNGB3 | c.1178+31T>C (n.1178+31T>C) n.998+31T>C c.764+31T>C (n.764+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643721A= | CA1799825597 | CNGB3 | c.1178+30T= (n.1178+30T=) n.998+30T= c.764+30T= (n.764+30T=) | |
| 8 | g.86643721A>G | CA4800131 | CNGB3 | c.1178+30T>C (n.1178+30T>C) n.998+30T>C c.764+30T>C (n.764+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643722T>A | CA1116230105 | CNGB3 | c.1178+29A>T (n.1178+29A>T) n.998+29A>T c.764+29A>T (n.764+29A>T) | gnomAD v3 gnomAD v4 |
| 8 | g.86643723A= | CA1799825598 | CNGB3 | c.1178+28T= (n.1178+28T=) n.998+28T= c.764+28T= (n.764+28T=) | |
| 8 | g.86643723A>G | CA582916718 | CNGB3 | c.1178+28T>C (n.1178+28T>C) n.998+28T>C c.764+28T>C (n.764+28T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643724A>C | CA2687825197 | CNGB3 | c.1178+27T>G (n.1178+27T>G) n.998+27T>G c.764+27T>G (n.764+27T>G) | gnomAD v4 |
| 8 | g.86643726G>A | CA2781150520 | CNGB3 | c.1178+25C>T (n.1178+25C>T) n.998+25C>T c.764+25C>T (n.764+25C>T) | |
| 8 | g.86643726G>C | CA2687825198 | CNGB3 | c.1178+25C>G (n.1178+25C>G) n.998+25C>G c.764+25C>G (n.764+25C>G) | gnomAD v4 |
| 8 | g.86643726G>T | CA2687825199 | CNGB3 | c.1178+25C>A (n.1178+25C>A) n.998+25C>A c.764+25C>A (n.764+25C>A) | gnomAD v4 |
| 8 | g.86643727G>A | CA582916721 | CNGB3 | c.1178+24C>T (n.1178+24C>T) n.998+24C>T c.764+24C>T (n.764+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643727G= | CA1799825600 | CNGB3 | c.1178+24C= (n.1178+24C=) n.998+24C= c.764+24C= (n.764+24C=) | |
| 8 | g.86643727G>T | CA4800133 | CNGB3 | c.1178+24C>A (n.1178+24C>A) n.998+24C>A c.764+24C>A (n.764+24C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643727_86643728insC | CA4800132 | CNGB3 | c.1178+23_1178+24insG (n.1178+23_1178+24insG) n.998+23_998+24insG c.764+23_764+24insG (n.764+23_764+24insG) | dbSNP ExAC gnomAD v2 |
| 8 | g.86643728T>C | CA4800134 | CNGB3 | c.1178+23A>G (n.1178+23A>G) n.998+23A>G c.764+23A>G (n.764+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643728T= | CA1799825602 | CNGB3 | c.1178+23A= (n.1178+23A=) n.998+23A= c.764+23A= (n.764+23A=) | |
| 8 | g.86643729T>G | CA4800135 | CNGB3 | c.1178+22A>C (n.1178+22A>C) n.998+22A>C c.764+22A>C (n.764+22A>C) | dbSNP ExAC gnomAD v2 |
| 8 | g.86643729T= | CA1799825604 | CNGB3 | c.1178+22A= (n.1178+22A=) n.998+22A= c.764+22A= (n.764+22A=) | |
| 8 | g.86643730T>C | CA1116230124 | CNGB3 | c.1178+21A>G (n.1178+21A>G) n.998+21A>G c.764+21A>G (n.764+21A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643730T= | CA1799825605 | CNGB3 | c.1178+21A= (n.1178+21A=) n.998+21A= c.764+21A= (n.764+21A=) | |
| 8 | g.86643731C>A | CA4800136 | CNGB3 | c.1178+20G>T (n.1178+20G>T) n.998+20G>T c.764+20G>T (n.764+20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643731C= | CA1799825607 | CNGB3 | c.1178+20G= (n.1178+20G=) n.998+20G= c.764+20G= (n.764+20G=) | |
| 8 | g.86643731C>T | CA4800137 | CNGB3 | c.1178+20G>A (n.1178+20G>A) n.998+20G>A c.764+20G>A (n.764+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643734_86643748del | CA2579200029 | CNGB3 | c.1178+6_1178+20del (n.1178+6_1178+20del) n.998+6_998+20del c.764+6_764+20del (n.764+6_764+20del) | |
| 8 | g.86643732T>C | CA2687825200 | CNGB3 | c.1178+19A>G (n.1178+19A>G) n.998+19A>G c.764+19A>G (n.764+19A>G) | gnomAD v4 |
| 8 | g.86643733T>A | CA1116230128 | CNGB3 | c.1178+18A>T (n.1178+18A>T) n.998+18A>T c.764+18A>T (n.764+18A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643733T= | CA1799825609 | CNGB3 | c.1178+18A= (n.1178+18A=) n.998+18A= c.764+18A= (n.764+18A=) | |
| 8 | g.86643735C>A | CA2687825201 | CNGB3 | c.1178+16G>T (n.1178+16G>T) n.998+16G>T c.764+16G>T (n.764+16G>T) | gnomAD v4 |
| 8 | g.86643735C= | CA1799825610 | CNGB3 | c.1178+16G= (n.1178+16G=) n.998+16G= c.764+16G= (n.764+16G=) | |
| 8 | g.86643735C>G | CA2739268839 | CNGB3 | c.1178+16G>C (n.1178+16G>C) n.998+16G>C c.764+16G>C (n.764+16G>C) | ClinVar |
| 8 | g.86643735C>T | CA1799825611 | CNGB3 | c.1178+16G>A (n.1178+16G>A) n.998+16G>A c.764+16G>A (n.764+16G>A) | dbSNP |
| 8 | g.86643739del | CA2579200030 | CNGB3 | c.1178+15del (n.1178+15del) n.998+15del c.764+15del (n.764+15del) | |
| 8 | g.86643738A= | CA1799825614 | CNGB3 | c.1178+13T= (n.1178+13T=) n.998+13T= c.764+13T= (n.764+13T=) | |
| 8 | g.86643738A>C | CA582916730 | CNGB3 | c.1178+13T>G (n.1178+13T>G) n.998+13T>G c.764+13T>G (n.764+13T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643738A>T | CA856344794 | CNGB3 | c.1178+13T>A (n.1178+13T>A) n.998+13T>A c.764+13T>A (n.764+13T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643739A= | CA1799825617 | CNGB3 | c.1178+12T= (n.1178+12T=) n.998+12T= c.764+12T= (n.764+12T=) | |
| 8 | g.86643739A>G | CA1799825616 | CNGB3 | c.1178+12T>C (n.1178+12T>C) n.998+12T>C c.764+12T>C (n.764+12T>C) | ClinVar dbSNP |
| 8 | g.86643740T>A | CA2697549983 | CNGB3 | c.1178+11A>T (n.1178+11A>T) n.998+11A>T c.764+11A>T (n.764+11A>T) | ClinVar |
| 8 | g.86643740T>C | CA4800138 | CNGB3 | c.1178+11A>G (n.1178+11A>G) n.998+11A>G c.764+11A>G (n.764+11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643740T= | CA1799825619 | CNGB3 | c.1178+11A= (n.1178+11A=) n.998+11A= c.764+11A= (n.764+11A=) | |
| 8 | g.86643741C>A | CA645549434 | CNGB3 | c.1178+10G>T (n.1178+10G>T) n.998+10G>T c.764+10G>T (n.764+10G>T) | gnomAD v4 COSMIC |
| 8 | g.86643741C>T | CA2556346062 | CNGB3 | c.1178+10G>A (n.1178+10G>A) n.998+10G>A c.764+10G>A (n.764+10G>A) | ClinVar gnomAD v4 |
| 8 | g.86643742A= | CA1799825622 | CNGB3 | c.1178+9T= (n.1178+9T=) n.998+9T= c.764+9T= (n.764+9T=) | |
| 8 | g.86643742A>G | CA4800139 | CNGB3 | c.1178+9T>C (n.1178+9T>C) n.998+9T>C c.764+9T>C (n.764+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643744A= | CA1799825625 | CNGB3 | c.1178+7T= (n.1178+7T=) n.998+7T= c.764+7T= (n.764+7T=) | |
| 8 | g.86643744A>G | CA1799825626 | CNGB3 | c.1178+7T>C (n.1178+7T>C) n.998+7T>C c.764+7T>C (n.764+7T>C) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86643745A= | CA1799825628 | CNGB3 | c.1178+6T= (n.1178+6T=) n.998+6T= c.764+6T= (n.764+6T=) | |
| 8 | g.86643745A>G | CA4800140 | CNGB3 | c.1178+6T>C (n.1178+6T>C) n.998+6T>C c.764+6T>C (n.764+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643746C>A | CA1139660623 | CNGB3 | c.1178+5G>T (n.1178+5G>T) n.998+5G>T c.764+5G>T (n.764+5G>T) | ClinVar dbSNP |
| 8 | g.86643746C= | CA1799825635 | CNGB3 | c.1178+5G= (n.1178+5G=) n.998+5G= c.764+5G= (n.764+5G=) | |
| 8 | g.86643747T>C | CA1116230141 | CNGB3 | c.1178+4A>G (n.1178+4A>G) n.998+4A>G c.764+4A>G (n.764+4A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643747T= | CA1799825636 | CNGB3 | c.1178+4A= (n.1178+4A=) n.998+4A= c.764+4A= (n.764+4A=) | |
| 8 | g.86643748T>C | CA2781150521 | CNGB3 | c.1178+3A>G (n.1178+3A>G) n.998+3A>G c.764+3A>G (n.764+3A>G) | |
| 8 | g.86643748T>G | CA2687825202 | CNGB3 | c.1178+3A>C (n.1178+3A>C) n.998+3A>C c.764+3A>C (n.764+3A>C) | gnomAD v4 |
| 8 | g.86643749A>C | CA371446689 | CNGB3 | c.1178+2T>G (n.1178+2T>G) n.998+2T>G c.764+2T>G (n.764+2T>G) | |
| 8 | g.86643749A>G | CA371446690 | CNGB3 | c.1178+2T>C (n.1178+2T>C) n.998+2T>C c.764+2T>C (n.764+2T>C) | |
| 8 | g.86643749A>T | CA371446691 | CNGB3 | c.1178+2T>A (n.1178+2T>A) n.998+2T>A c.764+2T>A (n.764+2T>A) | |
| 8 | g.86643750del | CA2687825203 | CNGB3 | c.1178+1del (n.1178+1del) n.998+1del c.764+1del (n.764+1del) | gnomAD v4 |
| 8 | g.86643750C>A | CA371446694 | CNGB3 | c.1178+1G>T (n.1178+1G>T) n.998+1G>T c.764+1G>T (n.764+1G>T) | |
| 8 | g.86643750C= | CA1799825639 | CNGB3 | c.1178+1G= (n.1178+1G=) n.998+1G= c.764+1G= (n.764+1G=) | |
| 8 | g.86643750C>G | CA371446693 | CNGB3 | c.1178+1G>C (n.1178+1G>C) n.998+1G>C c.764+1G>C (n.764+1G>C) | |
| 8 | g.86643750C>T | CA371446692 | CNGB3 | c.1178+1G>A (n.1178+1G>A) n.998+1G>A c.764+1G>A (n.764+1G>A) | dbSNP |
| 8 | g.86643751T>A | CA371446695 | CNGB3 | c.1178A>T (p.Glu393Val) n.998A>T c.764A>T (p.Glu255Val) | |
| 8 | g.86643751T>C | CA371446696 | CNGB3 | c.1178A>G (p.Glu393Gly) n.998A>G c.764A>G (p.Glu255Gly) | |
| 8 | g.86643751T>G | CA371446697 | CNGB3 | c.1178A>C (p.Glu393Ala) n.998A>C c.764A>C (p.Glu255Ala) | |
| 8 | g.86643752C>A | CA371446698 | CNGB3 | c.1177G>T (p.Glu393Ter) n.997G>T c.763G>T (p.Glu255Ter) | gnomAD v4 |
| 8 | g.86643752C= | CA1799825643 | CNGB3 | c.1177G= (p.Glu393=) n.997G= c.763G= (p.Glu255=) | |
| 8 | g.86643752C>G | CA371446699 | CNGB3 | c.1177G>C (p.Glu393Gln) n.997G>C c.763G>C (p.Glu255Gln) | |
| 8 | g.86643752C>T | CA4800141 | CNGB3 | c.1177G>A (p.Glu393Lys) n.997G>A c.763G>A (p.Glu255Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643753G>A | CA4800142 | CNGB3 | c.1176C>T (p.Asn392=) n.996C>T c.762C>T (p.Asn254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643753G>C | CA4800143 | CNGB3 | c.1176C>G (p.Asn392Lys) n.996C>G c.762C>G (p.Asn254Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643753G= | CA1799825646 | CNGB3 | c.1176C= (p.Asn392=) n.996C= c.762C= (p.Asn254=) | |
| 8 | g.86643753G>T | CA371446700 | CNGB3 | c.1176C>A (p.Asn392Lys) n.996C>A c.762C>A (p.Asn254Lys) | gnomAD v4 |
| 8 | g.86643754T>A | CA371446701 | CNGB3 | c.1175A>T (p.Asn392Ile) n.995A>T c.761A>T (p.Asn254Ile) | |
| 8 | g.86643754T>C | CA371446702 | CNGB3 | c.1175A>G (p.Asn392Ser) n.995A>G c.761A>G (p.Asn254Ser) | gnomAD v4 |
| 8 | g.86643754T>G | CA371446703 | CNGB3 | c.1175A>C (p.Asn392Thr) n.995A>C c.761A>C (p.Asn254Thr) | |
| 8 | g.86643755T>A | CA371446704 | CNGB3 | c.1174A>T (p.Asn392Tyr) n.994A>T c.760A>T (p.Asn254Tyr) | |
| 8 | g.86643755T>C | CA371446706 | CNGB3 | c.1174A>G (p.Asn392Asp) n.994A>G c.760A>G (p.Asn254Asp) | |
| 8 | g.86643755T>G | CA371446705 | CNGB3 | c.1174A>C (p.Asn392His) n.994A>C c.760A>C (p.Asn254His) | |
| 8 | g.86643756T>A | CA461815797 | CNGB3 | c.1173A>T (p.Gly391=) n.993A>T c.759A>T (p.Gly253=) | |
| 8 | g.86643756T>C | CA461815799 | CNGB3 | c.1173A>G (p.Gly391=) n.993A>G c.759A>G (p.Gly253=) | |
| 8 | g.86643756T>G | CA461815798 | CNGB3 | c.1173A>C (p.Gly391=) n.993A>C c.759A>C (p.Gly253=) | |
| 8 | g.86643757C>A | CA371446707 | CNGB3 | c.1172G>T (p.Gly391Val) n.992G>T c.758G>T (p.Gly253Val) | |
| 8 | g.86643757C= | CA1799825650 | CNGB3 | c.1172G= (p.Gly391=) n.992G= c.758G= (p.Gly253=) | |
| 8 | g.86643757C>G | CA371446708 | CNGB3 | c.1172G>C (p.Gly391Ala) n.992G>C c.758G>C (p.Gly253Ala) | |
| 8 | g.86643757C>T | CA180348117 | CNGB3 | c.1172G>A (p.Gly391Glu) n.992G>A c.758G>A (p.Gly253Glu) | dbSNP |
| 8 | g.86643758C>A | CA371446709 | CNGB3 | c.1171G>T (p.Gly391Ter) n.991G>T c.757G>T (p.Gly253Ter) | |
| 8 | g.86643758C= | CA1799825652 | CNGB3 | c.1171G= (p.Gly391=) n.991G= c.757G= (p.Gly253=) | |
| 8 | g.86643758C>G | CA371446710 | CNGB3 | c.1171G>C (p.Gly391Arg) n.991G>C c.757G>C (p.Gly253Arg) | |
| 8 | g.86643758C>T | CA4800144 | CNGB3 | c.1171G>A (p.Gly391Arg) n.991G>A c.757G>A (p.Gly253Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643759T>A | CA371446711 | CNGB3 | c.1170A>T (p.Glu390Asp) n.990A>T c.756A>T (p.Glu252Asp) | |
| 8 | g.86643759T>C | CA4800145 | CNGB3 | c.1170A>G (p.Glu390=) n.990A>G c.756A>G (p.Glu252=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643759T>G | CA371446712 | CNGB3 | c.1170A>C (p.Glu390Asp) n.990A>C c.756A>C (p.Glu252Asp) | |
| 8 | g.86643759T= | CA1799825656 | CNGB3 | c.1170A= (p.Glu390=) n.990A= c.756A= (p.Glu252=) | |
| 8 | g.86643760T>A | CA371446713 | CNGB3 | c.1169A>T (p.Glu390Val) n.989A>T c.755A>T (p.Glu252Val) | |
| 8 | g.86643760T>C | CA4800146 | CNGB3 | c.1169A>G (p.Glu390Gly) n.989A>G c.755A>G (p.Glu252Gly) | dbSNP ExAC gnomAD v2 |
| 8 | g.86643760T>G | CA371446714 | CNGB3 | c.1169A>C (p.Glu390Ala) n.989A>C c.755A>C (p.Glu252Ala) | |
| 8 | g.86643760T= | CA1799825659 | CNGB3 | c.1169A= (p.Glu390=) n.989A= c.755A= (p.Glu252=) | |
| 8 | g.86643761C>A | CA371446715 | CNGB3 | c.1168G>T (p.Glu390Ter) n.988G>T c.754G>T (p.Glu252Ter) | ClinVar dbSNP |
| 8 | g.86643761C= | CA1799825660 | CNGB3 | c.1168G= (p.Glu390=) n.988G= c.754G= (p.Glu252=) | |
| 8 | g.86643761C>G | CA371446716 | CNGB3 | c.1168G>C (p.Glu390Gln) n.988G>C c.754G>C (p.Glu252Gln) | |
| 8 | g.86643761C>T | CA371446717 | CNGB3 | c.1168G>A (p.Glu390Lys) n.988G>A c.754G>A (p.Glu252Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86643761_86643762insG | CA856344827 | CNGB3 | c.1167_1168insC (p.Glu390ArgfsTer30) n.987_988insC c.753_754insC (p.Glu252ArgfsTer30) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643762C>A | CA461815800 | CNGB3 | c.1167G>T (p.Gly389=) n.987G>T c.753G>T (p.Gly251=) | gnomAD v4 |
| 8 | g.86643762C= | CA1799825662 | CNGB3 | c.1167G= (p.Gly389=) n.987G= c.753G= (p.Gly251=) | |
| 8 | g.86643762C>G | CA461815801 | CNGB3 | c.1167G>C (p.Gly389=) n.987G>C c.753G>C (p.Gly251=) | |
| 8 | g.86643762C>T | CA4800147 | CNGB3 | c.1167G>A (p.Gly389=) n.987G>A c.753G>A (p.Gly251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86643763C>A | CA371446718 | CNGB3 | c.1166G>T (p.Gly389Val) n.986G>T c.752G>T (p.Gly251Val) | |
| 8 | g.86643763C= | CA1799825666 | CNGB3 | c.1166G= (p.Gly389=) n.986G= c.752G= (p.Gly251=) | |
| 8 | g.86643763C>G | CA371446720 | CNGB3 | c.1166G>C (p.Gly389Ala) n.986G>C c.752G>C (p.Gly251Ala) | gnomAD v4 |
| 8 | g.86643763C>T | CA371446719 | CNGB3 | c.1166G>A (p.Gly389Glu) n.986G>A c.752G>A (p.Gly251Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643764C>A | CA371446721 | CNGB3 | c.1165G>T (p.Gly389Trp) n.985G>T c.751G>T (p.Gly251Trp) | |
| 8 | g.86643764C>G | CA371446722 | CNGB3 | c.1165G>C (p.Gly389Arg) n.985G>C c.751G>C (p.Gly251Arg) | |
| 8 | g.86643764C>T | CA371446723 | CNGB3 | c.1165G>A (p.Gly389Arg) n.985G>A c.751G>A (p.Gly251Arg) | gnomAD v4 COSMIC |
| 8 | g.86643765A= | CA1799825668 | CNGB3 | c.1164T= (p.Asp388=) n.984T= c.750T= (p.Asp250=) | |
| 8 | g.86643765A>C | CA371446724 | CNGB3 | c.1164T>G (p.Asp388Glu) n.984T>G c.750T>G (p.Asp250Glu) | |
| 8 | g.86643765A>G | CA180348139 | CNGB3 | c.1164T>C (p.Asp388=) n.984T>C c.750T>C (p.Asp250=) | dbSNP gnomAD v4 |
| 8 | g.86643765A>T | CA371446725 | CNGB3 | c.1164T>A (p.Asp388Glu) n.984T>A c.750T>A (p.Asp250Glu) | |
| 8 | g.86643766T>A | CA371446726 | CNGB3 | c.1163A>T (p.Asp388Val) n.983A>T c.749A>T (p.Asp250Val) | |
| 8 | g.86643766T>C | CA371446727 | CNGB3 | c.1163A>G (p.Asp388Gly) n.983A>G c.749A>G (p.Asp250Gly) | |
| 8 | g.86643766T>G | CA371446728 | CNGB3 | c.1163A>C (p.Asp388Ala) n.983A>C c.749A>C (p.Asp250Ala) | |
| 8 | g.86643767C>A | CA371446729 | CNGB3 | c.1162G>T (p.Asp388Tyr) n.982G>T c.748G>T (p.Asp250Tyr) | |
| 8 | g.86643767C= | CA1799825671 | CNGB3 | c.1162G= (p.Asp388=) n.982G= c.748G= (p.Asp250=) | |
| 8 | g.86643767C>G | CA371446730 | CNGB3 | c.1162G>C (p.Asp388His) n.982G>C c.748G>C (p.Asp250His) | |
| 8 | g.86643767C>T | CA180348140 | CNGB3 | c.1162G>A (p.Asp388Asn) n.982G>A c.748G>A (p.Asp250Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86643768A>C | CA371446732 | CNGB3 | c.1161T>G (p.Tyr387Ter) n.981T>G c.747T>G (p.Tyr249Ter) | |
| 8 | g.86643768A>G | CA461815802 | CNGB3 | c.1161T>C (p.Tyr387=) n.981T>C c.747T>C (p.Tyr249=) | gnomAD v4 |
| 8 | g.86643768A>T | CA371446731 | CNGB3 | c.1161T>A (p.Tyr387Ter) n.981T>A c.747T>A (p.Tyr249Ter) | |
| 8 | g.86643769T>A | CA371446733 | CNGB3 | c.1160A>T (p.Tyr387Phe) n.980A>T c.746A>T (p.Tyr249Phe) | |
| 8 | g.86643769T>C | CA10631709 | CNGB3 | c.1160A>G (p.Tyr387Cys) n.980A>G c.746A>G (p.Tyr249Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643769T>G | CA371446734 | CNGB3 | c.1160A>C (p.Tyr387Ser) n.980A>C c.746A>C (p.Tyr249Ser) | |
| 8 | g.86643769T= | CA1799825678 | CNGB3 | c.1160A= (p.Tyr387=) n.980A= c.746A= (p.Tyr249=) | |
| 8 | g.86643770A>C | CA371446735 | CNGB3 | c.1159T>G (p.Tyr387Asp) n.979T>G c.745T>G (p.Tyr249Asp) | |
| 8 | g.86643770A>G | CA371446736 | CNGB3 | c.1159T>C (p.Tyr387His) n.979T>C c.745T>C (p.Tyr249His) | |
| 8 | g.86643770A>T | CA371446737 | CNGB3 | c.1159T>A (p.Tyr387Asn) n.979T>A c.745T>A (p.Tyr249Asn) | |
| 8 | g.86643771C>A | CA461815803 | CNGB3 | c.1158G>T (p.Val386=) n.978G>T c.744G>T (p.Val248=) | |
| 8 | g.86643771C= | CA1799825681 | CNGB3 | c.1158G= (p.Val386=) n.978G= c.744G= (p.Val248=) | |
| 8 | g.86643771C>G | CA461815804 | CNGB3 | c.1158G>C (p.Val386=) n.978G>C c.744G>C (p.Val248=) | |
| 8 | g.86643771C>T | CA461815805 | CNGB3 | c.1158G>A (p.Val386=) n.978G>A c.744G>A (p.Val248=) | dbSNP |
| 8 | g.86643772A>C | CA371446740 | CNGB3 | c.1157T>G (p.Val386Gly) n.977T>G c.743T>G (p.Val248Gly) | |
| 8 | g.86643772A>G | CA371446739 | CNGB3 | c.1157T>C (p.Val386Ala) n.977T>C c.743T>C (p.Val248Ala) | |
| 8 | g.86643772A>T | CA371446738 | CNGB3 | c.1157T>A (p.Val386Glu) n.977T>A c.743T>A (p.Val248Glu) | |
| 8 | g.86643773C>A | CA371446741 | CNGB3 | c.1156G>T (p.Val386Leu) n.976G>T c.742G>T (p.Val248Leu) | COSMIC |
| 8 | g.86643773C>G | CA371446742 | CNGB3 | c.1156G>C (p.Val386Leu) n.976G>C c.742G>C (p.Val248Leu) | |
| 8 | g.86643773C>T | CA371446743 | CNGB3 | c.1156G>A (p.Val386Met) n.976G>A c.742G>A (p.Val248Met) | gnomAD v4 |
| 8 | g.86643774C>A | CA371446744 | CNGB3 | c.1155G>T (p.Trp385Cys) n.975G>T c.741G>T (p.Trp247Cys) | |
| 8 | g.86643774C>G | CA371446745 | CNGB3 | c.1155G>C (p.Trp385Cys) n.975G>C c.741G>C (p.Trp247Cys) | gnomAD v4 |
| 8 | g.86643774C>T | CA371446746 | CNGB3 | c.1155G>A (p.Trp385Ter) n.975G>A c.741G>A (p.Trp247Ter) | ClinVar |
| 8 | g.86643775C>A | CA4800148 | CNGB3 | c.1154G>T (p.Trp385Leu) n.974G>T c.740G>T (p.Trp247Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643775C= | CA1799825684 | CNGB3 | c.1154G= (p.Trp385=) n.974G= c.740G= (p.Trp247=) | |
| 8 | g.86643775C>G | CA371446748 | CNGB3 | c.1154G>C (p.Trp385Ser) n.974G>C c.740G>C (p.Trp247Ser) | |
| 8 | g.86643775C>T | CA371446747 | CNGB3 | c.1154G>A (p.Trp385Ter) n.974G>A c.740G>A (p.Trp247Ter) | |
| 8 | g.86643776A>C | CA371446749 | CNGB3 | c.1153T>G (p.Trp385Gly) n.973T>G c.739T>G (p.Trp247Gly) | |
| 8 | g.86643776A>G | CA371446750 | CNGB3 | c.1153T>C (p.Trp385Arg) n.973T>C c.739T>C (p.Trp247Arg) | gnomAD v4 |
| 8 | g.86643776A>T | CA371446751 | CNGB3 | c.1153T>A (p.Trp385Arg) n.973T>A c.739T>A (p.Trp247Arg) | |
| 8 | g.86643777T>A | CA371446752 | CNGB3 | c.1152A>T (p.Arg384Ser) n.972A>T c.738A>T (p.Arg246Ser) | |
| 8 | g.86643777T>C | CA461815806 | CNGB3 | c.1152A>G (p.Arg384=) n.972A>G c.738A>G (p.Arg246=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643777T>G | CA371446753 | CNGB3 | c.1152A>C (p.Arg384Ser) n.972A>C c.738A>C (p.Arg246Ser) | |
| 8 | g.86643777T= | CA1799825688 | CNGB3 | c.1152A= (p.Arg384=) n.972A= c.738A= (p.Arg246=) | |
| 8 | g.86643778C>A | CA371446754 | CNGB3 | c.1151G>T (p.Arg384Ile) n.971G>T c.737G>T (p.Arg246Ile) | |
| 8 | g.86643778C= | CA1799825691 | CNGB3 | c.1151G= (p.Arg384=) n.971G= c.737G= (p.Arg246=) | |
| 8 | g.86643778C>G | CA371446755 | CNGB3 | c.1151G>C (p.Arg384Thr) n.971G>C c.737G>C (p.Arg246Thr) | |
| 8 | g.86643778C>T | CA180348159 | CNGB3 | c.1151G>A (p.Arg384Lys) n.971G>A c.737G>A (p.Arg246Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643779T>A | CA371446756 | CNGB3 | c.1150A>T (p.Arg384Ter) n.970A>T c.736A>T (p.Arg246Ter) | |
| 8 | g.86643779T>C | CA371446757 | CNGB3 | c.1150A>G (p.Arg384Gly) n.970A>G c.736A>G (p.Arg246Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643779T>G | CA461815807 | CNGB3 | c.1150A>C (p.Arg384=) n.970A>C c.736A>C (p.Arg246=) | dbSNP gnomAD v4 |
| 8 | g.86643779T= | CA1799825695 | CNGB3 | c.1150A= (p.Arg384=) n.970A= c.736A= (p.Arg246=) | |
| 8 | g.86643780A= | CA1799825700 | CNGB3 | c.1149T= (p.Thr383=) n.969T= c.735T= (p.Thr245=) | |
| 8 | g.86643780A>C | CA461815809 | CNGB3 | c.1149T>G (p.Thr383=) n.969T>G c.735T>G (p.Thr245=) | |
| 8 | g.86643780A>G | CA4800149 | CNGB3 | c.1149T>C (p.Thr383=) n.969T>C c.735T>C (p.Thr245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643780A>T | CA461815808 | CNGB3 | c.1149T>A (p.Thr383=) n.969T>A c.735T>A (p.Thr245=) | |
| 8 | g.86643780_86643781delinsAG | CA1799825698 | CNGB3 | c.1148_1149delinsCT (p.Thr383=) n.968_969delinsCT c.734_735delinsCT (p.Thr245=) | |
| 8 | g.86643781del | CA223548 | CNGB3 | c.1148del (p.Thr383IlefsTer13) n.968del c.734del (p.Thr245IlefsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643781G>A | CA371446758 | CNGB3 | c.1148C>T (p.Thr383Ile) n.968C>T c.734C>T (p.Thr245Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86643781G>C | CA371446759 | CNGB3 | c.1148C>G (p.Thr383Ser) n.968C>G c.734C>G (p.Thr245Ser) | |
| 8 | g.86643781G= | CA1799825718 | CNGB3 | c.1148C= (p.Thr383=) n.968C= c.734C= (p.Thr245=) | |
| 8 | g.86643781G>T | CA371446760 | CNGB3 | c.1148C>A (p.Thr383Asn) n.968C>A c.734C>A (p.Thr245Asn) | COSMIC |
| 8 | g.86643781dup | CA1799825713 | CNGB3 | c.1148dup (p.Arg384Ter) n.968dup c.734dup (p.Arg246Ter) | dbSNP |
| 8 | g.86643782del | CA371446763 | CNGB3 | c.1147del (p.Thr383LeufsTer13) n.967del c.733del (p.Thr245LeufsTer13) | |
| 8 | g.86643782T>A | CA371446764 | CNGB3 | c.1147A>T (p.Thr383Ser) n.967A>T c.733A>T (p.Thr245Ser) | |
| 8 | g.86643782T>C | CA371446761 | CNGB3 | c.1147A>G (p.Thr383Ala) n.967A>G c.733A>G (p.Thr245Ala) | |
| 8 | g.86643782T>G | CA371446762 | CNGB3 | c.1147A>C (p.Thr383Pro) n.967A>C c.733A>C (p.Thr245Pro) | |
| 8 | g.86643783A>C | CA461815810 | CNGB3 | c.1146T>G (p.Thr382=) n.966T>G c.732T>G (p.Thr244=) | |
| 8 | g.86643783A>G | CA461815811 | CNGB3 | c.1146T>C (p.Thr382=) n.966T>C c.732T>C (p.Thr244=) | |
| 8 | g.86643783A>T | CA461815812 | CNGB3 | c.1146T>A (p.Thr382=) n.966T>A c.732T>A (p.Thr244=) | |
| 8 | g.86643784G>A | CA4800150 | CNGB3 | c.1145C>T (p.Thr382Ile) n.965C>T c.731C>T (p.Thr244Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643784G>C | CA371446765 | CNGB3 | c.1145C>G (p.Thr382Ser) n.965C>G c.731C>G (p.Thr244Ser) | |
| 8 | g.86643784G= | CA1799825724 | CNGB3 | c.1145C= (p.Thr382=) n.965C= c.731C= (p.Thr244=) | |
| 8 | g.86643784G>T | CA371446766 | CNGB3 | c.1145C>A (p.Thr382Asn) n.965C>A c.731C>A (p.Thr244Asn) | gnomAD v4 |
| 8 | g.86643785T>A | CA371446767 | CNGB3 | c.1144A>T (p.Thr382Ser) n.964A>T c.730A>T (p.Thr244Ser) | |
| 8 | g.86643785T>C | CA371446768 | CNGB3 | c.1144A>G (p.Thr382Ala) n.964A>G c.730A>G (p.Thr244Ala) | dbSNP |
| 8 | g.86643785T>G | CA371446769 | CNGB3 | c.1144A>C (p.Thr382Pro) n.964A>C c.730A>C (p.Thr244Pro) | |
| 8 | g.86643785T= | CA1799825725 | CNGB3 | c.1144A= (p.Thr382=) n.964A= c.730A= (p.Thr244=) | |
| 8 | g.86643786G>A | CA461815813 | CNGB3 | c.1143C>T (p.Gly381=) n.963C>T c.729C>T (p.Gly243=) | |
| 8 | g.86643786G>C | CA461815814 | CNGB3 | c.1143C>G (p.Gly381=) n.963C>G c.729C>G (p.Gly243=) | |
| 8 | g.86643786G>T | CA461815815 | CNGB3 | c.1143C>A (p.Gly381=) n.963C>A c.729C>A (p.Gly243=) | |
| 8 | g.86643787C>A | CA371446770 | CNGB3 | c.1142G>T (p.Gly381Val) n.962G>T c.728G>T (p.Gly243Val) | |
| 8 | g.86643787C>G | CA371446771 | CNGB3 | c.1142G>C (p.Gly381Ala) n.962G>C c.728G>C (p.Gly243Ala) | |
| 8 | g.86643787C>T | CA371446772 | CNGB3 | c.1142G>A (p.Gly381Asp) n.962G>A c.728G>A (p.Gly243Asp) | |
| 8 | g.86643788C>A | CA371446773 | CNGB3 | c.1141G>T (p.Gly381Cys) n.961G>T c.727G>T (p.Gly243Cys) | |
| 8 | g.86643788C>G | CA371446775 | CNGB3 | c.1141G>C (p.Gly381Arg) n.961G>C c.727G>C (p.Gly243Arg) | |
| 8 | g.86643788C>T | CA371446774 | CNGB3 | c.1141G>A (p.Gly381Ser) n.961G>A c.727G>A (p.Gly243Ser) | |
| 8 | g.86643789A>C | CA371446776 | CNGB3 | c.1140T>G (p.Ile380Met) n.960T>G c.726T>G (p.Ile242Met) | |
| 8 | g.86643789A>G | CA461815816 | CNGB3 | c.1140T>C (p.Ile380=) n.960T>C c.726T>C (p.Ile242=) | |
| 8 | g.86643789A>T | CA461815817 | CNGB3 | c.1140T>A (p.Ile380=) n.960T>A c.726T>A (p.Ile242=) | |
| 8 | g.86643790A= | CA1799825728 | CNGB3 | c.1139T= (p.Ile380=) n.959T= c.725T= (p.Ile242=) | |
| 8 | g.86643790A>C | CA371446777 | CNGB3 | c.1139T>G (p.Ile380Ser) n.959T>G c.725T>G (p.Ile242Ser) | |
| 8 | g.86643790A>G | CA371446778 | CNGB3 | c.1139T>C (p.Ile380Thr) n.959T>C c.725T>C (p.Ile242Thr) | |
| 8 | g.86643790A>T | CA4800151 | CNGB3 | c.1139T>A (p.Ile380Asn) n.959T>A c.725T>A (p.Ile242Asn) | dbSNP ExAC |
| 8 | g.86643791T>A | CA371446779 | CNGB3 | c.1138A>T (p.Ile380Phe) n.958A>T c.724A>T (p.Ile242Phe) | |
| 8 | g.86643791T>C | CA371446780 | CNGB3 | c.1138A>G (p.Ile380Val) n.958A>G c.724A>G (p.Ile242Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643791T>G | CA371446781 | CNGB3 | c.1138A>C (p.Ile380Leu) n.958A>C c.724A>C (p.Ile242Leu) | |
| 8 | g.86643791T= | CA1799825732 | CNGB3 | c.1138A= (p.Ile380=) n.958A= c.724A= (p.Ile242=) | |
| 8 | g.86643792T>A | CA461815818 | CNGB3 | c.1137A>T (p.Gly379=) n.957A>T c.723A>T (p.Gly241=) | |
| 8 | g.86643792T>C | CA461815819 | CNGB3 | c.1137A>G (p.Gly379=) n.957A>G c.723A>G (p.Gly241=) | |
| 8 | g.86643792T>G | CA461815820 | CNGB3 | c.1137A>C (p.Gly379=) n.957A>C c.723A>C (p.Gly241=) | gnomAD v4 |
| 8 | g.86643793C>A | CA371446782 | CNGB3 | c.1136G>T (p.Gly379Val) n.956G>T c.722G>T (p.Gly241Val) | |
| 8 | g.86643793C>G | CA371446783 | CNGB3 | c.1136G>C (p.Gly379Ala) n.956G>C c.722G>C (p.Gly241Ala) | |
| 8 | g.86643793C>T | CA371446784 | CNGB3 | c.1136G>A (p.Gly379Glu) n.956G>A c.722G>A (p.Gly241Glu) | |
| 8 | g.86643794C>A | CA371446786 | CNGB3 | c.1135G>T (p.Gly379Ter) n.955G>T c.721G>T (p.Gly241Ter) | |
| 8 | g.86643794C= | CA1799825737 | CNGB3 | c.1135G= (p.Gly379=) n.955G= c.721G= (p.Gly241=) | |
| 8 | g.86643794C>G | CA371446787 | CNGB3 | c.1135G>C (p.Gly379Arg) n.955G>C c.721G>C (p.Gly241Arg) | |
| 8 | g.86643794C>T | CA371446785 | CNGB3 | c.1135G>A (p.Gly379Arg) n.955G>A c.721G>A (p.Gly241Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643795T>A | CA371446788 | CNGB3 | c.1134A>T (p.Glu378Asp) n.954A>T c.720A>T (p.Glu240Asp) | |
| 8 | g.86643795T>C | CA461815821 | CNGB3 | c.1134A>G (p.Glu378=) n.954A>G c.720A>G (p.Glu240=) | |
| 8 | g.86643795T>G | CA371446789 | CNGB3 | c.1134A>C (p.Glu378Asp) n.954A>C c.720A>C (p.Glu240Asp) | |
| 8 | g.86643796T>A | CA371446790 | CNGB3 | c.1133A>T (p.Glu378Val) n.953A>T c.719A>T (p.Glu240Val) | |
| 8 | g.86643796T>C | CA371446791 | CNGB3 | c.1133A>G (p.Glu378Gly) n.953A>G c.719A>G (p.Glu240Gly) | |
| 8 | g.86643796T>G | CA371446792 | CNGB3 | c.1133A>C (p.Glu378Ala) n.953A>C c.719A>C (p.Glu240Ala) | |
| 8 | g.86643797C>A | CA371446795 | CNGB3 | c.1132G>T (p.Glu378Ter) n.952G>T c.718G>T (p.Glu240Ter) | |
| 8 | g.86643797C>G | CA371446793 | CNGB3 | c.1132G>C (p.Glu378Gln) n.952G>C c.718G>C (p.Glu240Gln) | |
| 8 | g.86643797C>T | CA371446794 | CNGB3 | c.1132G>A (p.Glu378Lys) n.952G>A c.718G>A (p.Glu240Lys) | gnomAD v4 COSMIC |
| 8 | g.86643798A= | CA1799825741 | CNGB3 | c.1131T= (p.Tyr377=) n.951T= c.717T= (p.Tyr239=) | |
| 8 | g.86643798A>C | CA371446796 | CNGB3 | c.1131T>G (p.Tyr377Ter) n.951T>G c.717T>G (p.Tyr239Ter) | ClinVar |
| 8 | g.86643798A>G | CA461815822 | CNGB3 | c.1131T>C (p.Tyr377=) n.951T>C c.717T>C (p.Tyr239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643798A>T | CA371446797 | CNGB3 | c.1131T>A (p.Tyr377Ter) n.951T>A c.717T>A (p.Tyr239Ter) | |
| 8 | g.86643799T>A | CA371446798 | CNGB3 | c.1130A>T (p.Tyr377Phe) n.950A>T c.716A>T (p.Tyr239Phe) | |
| 8 | g.86643799T>C | CA371446799 | CNGB3 | c.1130A>G (p.Tyr377Cys) n.950A>G c.716A>G (p.Tyr239Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643799T>G | CA180348169 | CNGB3 | c.1130A>C (p.Tyr377Ser) n.950A>C c.716A>C (p.Tyr239Ser) | dbSNP |
| 8 | g.86643799T= | CA1799825744 | CNGB3 | c.1130A= (p.Tyr377=) n.950A= c.716A= (p.Tyr239=) | |
| 8 | g.86643800A= | CA1799825746 | CNGB3 | c.1129T= (p.Tyr377=) n.949T= c.715T= (p.Tyr239=) | |
| 8 | g.86643800A>C | CA371446800 | CNGB3 | c.1129T>G (p.Tyr377Asp) n.949T>G c.715T>G (p.Tyr239Asp) | |
| 8 | g.86643800A>G | CA4800152 | CNGB3 | c.1129T>C (p.Tyr377His) n.949T>C c.715T>C (p.Tyr239His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643800A>T | CA371446801 | CNGB3 | c.1129T>A (p.Tyr377Asn) n.949T>A c.715T>A (p.Tyr239Asn) | |
| 8 | g.86643801G>A | CA461815823 | CNGB3 | c.1128C>T (p.Asn376=) n.948C>T c.714C>T (p.Asn238=) | |
| 8 | g.86643801G>C | CA371446802 | CNGB3 | c.1128C>G (p.Asn376Lys) n.948C>G c.714C>G (p.Asn238Lys) | |
| 8 | g.86643801G>T | CA371446803 | CNGB3 | c.1128C>A (p.Asn376Lys) n.948C>A c.714C>A (p.Asn238Lys) | |
| 8 | g.86643802T>A | CA371446804 | CNGB3 | c.1127A>T (p.Asn376Ile) n.947A>T c.713A>T (p.Asn238Ile) | gnomAD v4 |
| 8 | g.86643802T>C | CA371446805 | CNGB3 | c.1127A>G (p.Asn376Ser) n.947A>G c.713A>G (p.Asn238Ser) | |
| 8 | g.86643802T>G | CA371446806 | CNGB3 | c.1127A>C (p.Asn376Thr) n.947A>C c.713A>C (p.Asn238Thr) | |
| 8 | g.86643803T>A | CA371446807 | CNGB3 | c.1126A>T (p.Asn376Tyr) n.946A>T c.712A>T (p.Asn238Tyr) | |
| 8 | g.86643803T>C | CA4800153 | CNGB3 | c.1126A>G (p.Asn376Asp) n.946A>G c.712A>G (p.Asn238Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643803T>G | CA371446808 | CNGB3 | c.1126A>C (p.Asn376His) n.946A>C c.712A>C (p.Asn238His) | ClinVar dbSNP |
| 8 | g.86643803T= | CA1799825749 | CNGB3 | c.1126A= (p.Asn376=) n.946A= c.712A= (p.Asn238=) | |
| 8 | g.86643804T>A | CA461815824 | CNGB3 | c.1125A>T (p.Ser375=) n.945A>T c.711A>T (p.Ser237=) | |
| 8 | g.86643804T>C | CA4800154 | CNGB3 | c.1125A>G (p.Ser375=) n.945A>G c.711A>G (p.Ser237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86643804T>G | CA461815825 | CNGB3 | c.1125A>C (p.Ser375=) n.945A>C c.711A>C (p.Ser237=) | ClinVar dbSNP |
| 8 | g.86643804T= | CA1799825756 | CNGB3 | c.1125A= (p.Ser375=) n.945A= c.711A= (p.Ser237=) | |
| 8 | g.86643805G>A | CA371446809 | CNGB3 | c.1124C>T (p.Ser375Leu) n.944C>T c.710C>T (p.Ser237Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643805G>C | CA371446810 | CNGB3 | c.1124C>G (p.Ser375Ter) n.944C>G c.710C>G (p.Ser237Ter) | |
| 8 | g.86643805G= | CA1799825762 | CNGB3 | c.1124C= (p.Ser375=) n.944C= c.710C= (p.Ser237=) | |
| 8 | g.86643805G>T | CA371446811 | CNGB3 | c.1124C>A (p.Ser375Ter) n.944C>A c.710C>A (p.Ser237Ter) | |
| 8 | g.86643806A>C | CA371446813 | CNGB3 | c.1123T>G (p.Ser375Ala) n.943T>G c.709T>G (p.Ser237Ala) | gnomAD v4 |
| 8 | g.86643806A>G | CA371446814 | CNGB3 | c.1123T>C (p.Ser375Pro) n.943T>C c.709T>C (p.Ser237Pro) | |
| 8 | g.86643806A>T | CA371446812 | CNGB3 | c.1123T>A (p.Ser375Thr) n.943T>A c.709T>A (p.Ser237Thr) | |
| 8 | g.86643807A>C | CA461815826 | CNGB3 | c.1122T>G (p.Ala374=) n.942T>G c.708T>G (p.Ala236=) | |
| 8 | g.86643807A>G | CA461815827 | CNGB3 | c.1122T>C (p.Ala374=) n.942T>C c.708T>C (p.Ala236=) | |
| 8 | g.86643807A>T | CA461815828 | CNGB3 | c.1122T>A (p.Ala374=) n.942T>A c.708T>A (p.Ala236=) | |
| 8 | g.86643808G>A | CA371446817 | CNGB3 | c.1121C>T (p.Ala374Val) n.941C>T c.707C>T (p.Ala236Val) | |
| 8 | g.86643808G>C | CA371446815 | CNGB3 | c.1121C>G (p.Ala374Gly) n.941C>G c.707C>G (p.Ala236Gly) | |
| 8 | g.86643808G>T | CA371446816 | CNGB3 | c.1121C>A (p.Ala374Asp) n.941C>A c.707C>A (p.Ala236Asp) | |
| 8 | g.86643808_86643809delinsGC | CA1799825765 | CNGB3 | c.1120_1121delinsGC (p.Ala374=) n.940_941delinsGC c.706_707delinsGC (p.Ala236=) | |
| 8 | g.86643809C>A | CA371446818 | CNGB3 | c.1120G>T (p.Ala374Ser) n.940G>T c.706G>T (p.Ala236Ser) | gnomAD v4 |
| 8 | g.86643809C>G | CA371446819 | CNGB3 | c.1120G>C (p.Ala374Pro) n.940G>C c.706G>C (p.Ala236Pro) | |
| 8 | g.86643809C>T | CA371446820 | CNGB3 | c.1120G>A (p.Ala374Thr) n.940G>A c.706G>A (p.Ala236Thr) | gnomAD v4 |
| 8 | g.86643811del | CA918307706 | CNGB3 | c.1120del (p.Ala374LeufsTer22) n.940del c.706del (p.Ala236LeufsTer22) | dbSNP |
| 8 | g.86643810C>A | CA371446821 | CNGB3 | c.1119G>T (p.Trp373Cys) n.939G>T c.705G>T (p.Trp235Cys) | |
| 8 | g.86643810C= | CA1799825775 | CNGB3 | c.1119G= (p.Trp373=) n.939G= c.705G= (p.Trp235=) | |
| 8 | g.86643810C>G | CA371446822 | CNGB3 | c.1119G>C (p.Trp373Cys) n.939G>C c.705G>C (p.Trp235Cys) | |
| 8 | g.86643810C>T | CA274480 | CNGB3 | c.1119G>A (p.Trp373Ter) n.939G>A c.705G>A (p.Trp235Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86643811C>A | CA371446823 | CNGB3 | c.1118G>T (p.Trp373Leu) n.938G>T c.704G>T (p.Trp235Leu) | |
| 8 | g.86643811C>G | CA371446825 | CNGB3 | c.1118G>C (p.Trp373Ser) n.938G>C c.704G>C (p.Trp235Ser) | |
| 8 | g.86643811C>T | CA371446824 | CNGB3 | c.1118G>A (p.Trp373Ter) n.938G>A c.704G>A (p.Trp235Ter) | |
| 8 | g.86643812A= | CA1799825780 | CNGB3 | c.1117T= (p.Trp373=) n.937T= c.703T= (p.Trp235=) | |
| 8 | g.86643812A>C | CA371446826 | CNGB3 | c.1117T>G (p.Trp373Gly) n.937T>G c.703T>G (p.Trp235Gly) | |
| 8 | g.86643812A>G | CA4800155 | CNGB3 | c.1117T>C (p.Trp373Arg) n.937T>C c.703T>C (p.Trp235Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643812A>T | CA371446827 | CNGB3 | c.1117T>A (p.Trp373Arg) n.937T>A c.703T>A (p.Trp235Arg) | |
| 8 | g.86643813G>A | CA461815829 | CNGB3 | c.1116C>T (p.Tyr372=) n.936C>T c.702C>T (p.Tyr234=) | gnomAD v4 |
| 8 | g.86643813G>C | CA371446828 | CNGB3 | c.1116C>G (p.Tyr372Ter) n.936C>G c.702C>G (p.Tyr234Ter) | |
| 8 | g.86643813G>T | CA371446829 | CNGB3 | c.1116C>A (p.Tyr372Ter) n.936C>A c.702C>A (p.Tyr234Ter) |