Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17612597_17612599del | CA597672686 | OTOG | c.6329-23_6329-21del (n.6329-23_6329-21del) c.6293-23_6293-21del (n.6293-23_6293-21del) c.3347-23_3347-21del (n.3347-23_3347-21del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612595T>C | CA2612686758 | OTOG | c.6329-25T>C (n.6329-25T>C) c.6293-25T>C (n.6293-25T>C) c.3347-25T>C (n.3347-25T>C) | gnomAD v4 |
11 | g.17612596T>C | CA2612686760 | OTOG | c.6329-24T>C (n.6329-24T>C) c.6293-24T>C (n.6293-24T>C) c.3347-24T>C (n.3347-24T>C) | gnomAD v4 |
11 | g.17612596T>G | CA1955233033 | OTOG | c.6329-24T>G (n.6329-24T>G) c.6293-24T>G (n.6293-24T>G) c.3347-24T>G (n.3347-24T>G) | dbSNP gnomAD v4 |
11 | g.17612596T= | CA1955233032 | OTOG | c.6329-24T= (n.6329-24T=) c.6293-24T= (n.6293-24T=) c.3347-24T= (n.3347-24T=) | |
11 | g.17612597C>A | CA2612686761 | OTOG | c.6329-23C>A (n.6329-23C>A) c.6293-23C>A (n.6293-23C>A) c.3347-23C>A (n.3347-23C>A) | gnomAD v4 |
11 | g.17612597C= | CA1955233034 | OTOG | c.6329-23C= (n.6329-23C=) c.6293-23C= (n.6293-23C=) c.3347-23C= (n.3347-23C=) | |
11 | g.17612597C>G | CA1955233035 | OTOG | c.6329-23C>G (n.6329-23C>G) c.6293-23C>G (n.6293-23C>G) c.3347-23C>G (n.3347-23C>G) | dbSNP |
11 | g.17612599T>G | CA2612686762 | OTOG | c.6329-21T>G (n.6329-21T>G) c.6293-21T>G (n.6293-21T>G) c.3347-21T>G (n.3347-21T>G) | gnomAD v4 |
11 | g.17612601_17612602del | CA2574770897 | OTOG | c.6329-19_6329-18del (n.6329-19_6329-18del) c.6293-19_6293-18del (n.6293-19_6293-18del) c.3347-19_3347-18del (n.3347-19_3347-18del) | |
11 | g.17612600del | CA2790597883 | OTOG | c.6329-20del (n.6329-20del) c.6293-20del (n.6293-20del) c.3347-20del (n.3347-20del) | |
11 | g.17612600G>A | CA2574770898 | OTOG | c.6329-20G>A (n.6329-20G>A) c.6293-20G>A (n.6293-20G>A) c.3347-20G>A (n.3347-20G>A) | gnomAD v4 |
11 | g.17612601T>C | CA597672687 | OTOG | c.6329-19T>C (n.6329-19T>C) c.6293-19T>C (n.6293-19T>C) c.3347-19T>C (n.3347-19T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612601T= | CA1955233036 | OTOG | c.6329-19T= (n.6329-19T=) c.6293-19T= (n.6293-19T=) c.3347-19T= (n.3347-19T=) | |
11 | g.17612602G>T | CA2546618138 | OTOG | c.6329-18G>T (n.6329-18G>T) c.6293-18G>T (n.6293-18G>T) c.3347-18G>T (n.3347-18G>T) | gnomAD v4 |
11 | g.17612603C>A | CA935537423 | OTOG | c.6329-17C>A (n.6329-17C>A) c.6293-17C>A (n.6293-17C>A) c.3347-17C>A (n.3347-17C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612603C= | CA1955233037 | OTOG | c.6329-17C= (n.6329-17C=) c.6293-17C= (n.6293-17C=) c.3347-17C= (n.3347-17C=) | |
11 | g.17612603C>T | CA674241174 | OTOG | c.6329-17C>T (n.6329-17C>T) c.6293-17C>T (n.6293-17C>T) c.3347-17C>T (n.3347-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612604C>A | CA2612686763 | OTOG | c.6329-16C>A (n.6329-16C>A) c.6293-16C>A (n.6293-16C>A) c.3347-16C>A (n.3347-16C>A) | gnomAD v4 |
11 | g.17612604C= | CA1955233038 | OTOG | c.6329-16C= (n.6329-16C=) c.6293-16C= (n.6293-16C=) c.3347-16C= (n.3347-16C=) | |
11 | g.17612604C>G | CA674241180 | OTOG | c.6329-16C>G (n.6329-16C>G) c.6293-16C>G (n.6293-16C>G) c.3347-16C>G (n.3347-16C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612604C>T | CA218478698 | OTOG | c.6329-16C>T (n.6329-16C>T) c.6293-16C>T (n.6293-16C>T) c.3347-16C>T (n.3347-16C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612605C>A | CA2612686765 | OTOG | c.6329-15C>A (n.6329-15C>A) c.6293-15C>A (n.6293-15C>A) c.3347-15C>A (n.3347-15C>A) | gnomAD v4 |
11 | g.17612605C= | CA1955233039 | OTOG | c.6329-15C= (n.6329-15C=) c.6293-15C= (n.6293-15C=) c.3347-15C= (n.3347-15C=) | |
11 | g.17612605C>T | CA935537433 | OTOG | c.6329-15C>T (n.6329-15C>T) c.6293-15C>T (n.6293-15C>T) c.3347-15C>T (n.3347-15C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612606T>C | CA2612686766 | OTOG | c.6329-14T>C (n.6329-14T>C) c.6293-14T>C (n.6293-14T>C) c.3347-14T>C (n.3347-14T>C) | gnomAD v4 |
11 | g.17612607G>A | CA597672689 | OTOG | c.6329-13G>A (n.6329-13G>A) c.6293-13G>A (n.6293-13G>A) c.3347-13G>A (n.3347-13G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612607G= | CA1955233040 | OTOG | c.6329-13G= (n.6329-13G=) c.6293-13G= (n.6293-13G=) c.3347-13G= (n.3347-13G=) | |
11 | g.17612608C>A | CA935537434 | OTOG | c.6329-12C>A (n.6329-12C>A) c.6293-12C>A (n.6293-12C>A) c.3347-12C>A (n.3347-12C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612608C= | CA1955233041 | OTOG | c.6329-12C= (n.6329-12C=) c.6293-12C= (n.6293-12C=) c.3347-12C= (n.3347-12C=) | |
11 | g.17612608C>G | CA2790597884 | OTOG | c.6329-12C>G (n.6329-12C>G) c.6293-12C>G (n.6293-12C>G) c.3347-12C>G (n.3347-12C>G) | |
11 | g.17612608C>T | CA2612686768 | OTOG | c.6329-12C>T (n.6329-12C>T) c.6293-12C>T (n.6293-12C>T) c.3347-12C>T (n.3347-12C>T) | gnomAD v4 |
11 | g.17612609C>A | CA2612686769 | OTOG | c.6329-11C>A (n.6329-11C>A) c.6293-11C>A (n.6293-11C>A) c.3347-11C>A (n.3347-11C>A) | gnomAD v4 |
11 | g.17612609C>G | CA2612686770 | OTOG | c.6329-11C>G (n.6329-11C>G) c.6293-11C>G (n.6293-11C>G) c.3347-11C>G (n.3347-11C>G) | gnomAD v4 |
11 | g.17612609C>T | CA2612686771 | OTOG | c.6329-11C>T (n.6329-11C>T) c.6293-11C>T (n.6293-11C>T) c.3347-11C>T (n.3347-11C>T) | gnomAD v4 |
11 | g.17612610C= | CA1955233042 | OTOG | c.6329-10C= (n.6329-10C=) c.6293-10C= (n.6293-10C=) c.3347-10C= (n.3347-10C=) | |
11 | g.17612610C>G | CA5906016 | OTOG | c.6329-10C>G (n.6329-10C>G) c.6293-10C>G (n.6293-10C>G) c.3347-10C>G (n.3347-10C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17612610C>T | CA218478728 | OTOG | c.6329-10C>T (n.6329-10C>T) c.6293-10C>T (n.6293-10C>T) c.3347-10C>T (n.3347-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612611C>A | CA2612686773 | OTOG | c.6329-9C>A (n.6329-9C>A) c.6293-9C>A (n.6293-9C>A) c.3347-9C>A (n.3347-9C>A) | gnomAD v4 |
11 | g.17612611C>G | CA2612686774 | OTOG | c.6329-9C>G (n.6329-9C>G) c.6293-9C>G (n.6293-9C>G) c.3347-9C>G (n.3347-9C>G) | gnomAD v4 |
11 | g.17612611C>T | CA2612686777 | OTOG | c.6329-9C>T (n.6329-9C>T) c.6293-9C>T (n.6293-9C>T) c.3347-9C>T (n.3347-9C>T) | gnomAD v4 |
11 | g.17612612T>A | CA218478753 | OTOG | c.6329-8T>A (n.6329-8T>A) c.6293-8T>A (n.6293-8T>A) c.3347-8T>A (n.3347-8T>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612612T>C | CA2612686778 | OTOG | c.6329-8T>C (n.6329-8T>C) c.6293-8T>C (n.6293-8T>C) c.3347-8T>C (n.3347-8T>C) | gnomAD v4 |
11 | g.17612612T= | CA1955233043 | OTOG | c.6329-8T= (n.6329-8T=) c.6293-8T= (n.6293-8T=) c.3347-8T= (n.3347-8T=) | |
11 | g.17612613C>A | CA2612686780 | OTOG | c.6329-7C>A (n.6329-7C>A) c.6293-7C>A (n.6293-7C>A) c.3347-7C>A (n.3347-7C>A) | gnomAD v4 |
11 | g.17612613C= | CA1955233044 | OTOG | c.6329-7C= (n.6329-7C=) c.6293-7C= (n.6293-7C=) c.3347-7C= (n.3347-7C=) | |
11 | g.17612613C>T | CA5906017 | OTOG | c.6329-7C>T (n.6329-7C>T) c.6293-7C>T (n.6293-7C>T) c.3347-7C>T (n.3347-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612617del | CA2612686779 | OTOG | c.6329-3del (n.6329-3del) c.6293-3del (n.6293-3del) c.3347-3del (n.3347-3del) | gnomAD v4 |
11 | g.17612614C>A | CA2612686781 | OTOG | c.6329-6C>A (n.6329-6C>A) c.6293-6C>A (n.6293-6C>A) c.3347-6C>A (n.3347-6C>A) | gnomAD v4 |
11 | g.17612614C>T | CA2612686782 | OTOG | c.6329-6C>T (n.6329-6C>T) c.6293-6C>T (n.6293-6C>T) c.3347-6C>T (n.3347-6C>T) | gnomAD v4 |
11 | g.17612615C>G | CA2612686783 | OTOG | c.6329-5C>G (n.6329-5C>G) c.6293-5C>G (n.6293-5C>G) c.3347-5C>G (n.3347-5C>G) | gnomAD v4 |
11 | g.17612616C>A | CA2612686784 | OTOG | c.6329-4C>A (n.6329-4C>A) c.6293-4C>A (n.6293-4C>A) c.3347-4C>A (n.3347-4C>A) | gnomAD v4 |
11 | g.17612616C= | CA1955233045 | OTOG | c.6329-4C= (n.6329-4C=) c.6293-4C= (n.6293-4C=) c.3347-4C= (n.3347-4C=) | |
11 | g.17612616C>G | CA1955233046 | OTOG | c.6329-4C>G (n.6329-4C>G) c.6293-4C>G (n.6293-4C>G) c.3347-4C>G (n.3347-4C>G) | dbSNP |
11 | g.17612617C>A | CA597672693 | OTOG | c.6329-3C>A (n.6329-3C>A) c.6293-3C>A (n.6293-3C>A) c.3347-3C>A (n.3347-3C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612617C= | CA1955233047 | OTOG | c.6329-3C= (n.6329-3C=) c.6293-3C= (n.6293-3C=) c.3347-3C= (n.3347-3C=) | |
11 | g.17612617C>G | CA218478765 | OTOG | c.6329-3C>G (n.6329-3C>G) c.6293-3C>G (n.6293-3C>G) c.3347-3C>G (n.3347-3C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612617C>T | CA5906018 | OTOG | c.6329-3C>T (n.6329-3C>T) c.6293-3C>T (n.6293-3C>T) c.3347-3C>T (n.3347-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17612618A>C | CA379804147 | OTOG | c.6329-2A>C (n.6329-2A>C) c.6293-2A>C (n.6293-2A>C) c.3347-2A>C (n.3347-2A>C) | |
11 | g.17612618A>G | CA379804145 | OTOG | c.6329-2A>G (n.6329-2A>G) c.6293-2A>G (n.6293-2A>G) c.3347-2A>G (n.3347-2A>G) | |
11 | g.17612618A>T | CA379804141 | OTOG | c.6329-2A>T (n.6329-2A>T) c.6293-2A>T (n.6293-2A>T) c.3347-2A>T (n.3347-2A>T) | |
11 | g.17612619G>A | CA379804150 | OTOG | c.6329-1G>A (n.6329-1G>A) c.6293-1G>A (n.6293-1G>A) c.3347-1G>A (n.3347-1G>A) | |
11 | g.17612619G>C | CA379804153 | OTOG | c.6329-1G>C (n.6329-1G>C) c.6293-1G>C (n.6293-1G>C) c.3347-1G>C (n.3347-1G>C) | |
11 | g.17612619G= | CA1955233048 | OTOG | c.6329-1G= (n.6329-1G=) c.6293-1G= (n.6293-1G=) c.3347-1G= (n.3347-1G=) | |
11 | g.17612619G>T | CA379804155 | OTOG | c.6329-1G>T (n.6329-1G>T) c.6293-1G>T (n.6293-1G>T) c.3347-1G>T (n.3347-1G>T) | dbSNP gnomAD v4 |
11 | g.17612620G>A | CA379804158 | OTOG | c.6329G>A (p.Cys2110Tyr) c.6293G>A (p.Cys2098Tyr) c.3347G>A (p.Cys1116Tyr) | |
11 | g.17612620G>C | CA379804160 | OTOG | c.6329G>C (p.Cys2110Ser) c.6293G>C (p.Cys2098Ser) c.3347G>C (p.Cys1116Ser) | |
11 | g.17612620G= | CA1955233049 | OTOG | c.6329G= (p.Cys2110=) c.6293G= (p.Cys2098=) c.3347G= (p.Cys1116=) | |
11 | g.17612620G>T | CA379804162 | OTOG | c.6329G>T (p.Cys2110Phe) c.6293G>T (p.Cys2098Phe) c.3347G>T (p.Cys1116Phe) | dbSNP |
11 | g.17612621C>A | CA379804165 | OTOG | c.6330C>A (p.Cys2110Ter) c.6294C>A (p.Cys2098Ter) c.3348C>A (p.Cys1116Ter) | gnomAD v4 |
11 | g.17612621C= | CA1955233050 | OTOG | c.6330C= (p.Cys2110=) c.6294C= (p.Cys2098=) c.3348C= (p.Cys1116=) | |
11 | g.17612621C>G | CA379804166 | OTOG | c.6330C>G (p.Cys2110Trp) c.6294C>G (p.Cys2098Trp) c.3348C>G (p.Cys1116Trp) | dbSNP |
11 | g.17612621C>T | CA473305692 | OTOG | c.6330C>T (p.Cys2110=) c.6294C>T (p.Cys2098=) c.3348C>T (p.Cys1116=) | |
11 | g.17612622C>A | CA218478773 | OTOG | c.6331C>A (p.Arg2111=) c.6295C>A (p.Arg2099=) c.3349C>A (p.Arg1117=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612622C= | CA1955233051 | OTOG | c.6331C= (p.Arg2111=) c.6295C= (p.Arg2099=) c.3349C= (p.Arg1117=) | |
11 | g.17612622C>G | CA379804168 | OTOG | c.6331C>G (p.Arg2111Gly) c.6295C>G (p.Arg2099Gly) c.3349C>G (p.Arg1117Gly) | |
11 | g.17612622C>T | CA5906019 | OTOG | c.6331C>T (p.Arg2111Trp) c.6295C>T (p.Arg2099Trp) c.3349C>T (p.Arg1117Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612623G>A | CA218478782 | OTOG | c.6332G>A (p.Arg2111Gln) c.6296G>A (p.Arg2099Gln) c.3350G>A (p.Arg1117Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612623G>C | CA379804169 | OTOG | c.6332G>C (p.Arg2111Pro) c.6296G>C (p.Arg2099Pro) c.3350G>C (p.Arg1117Pro) | |
11 | g.17612623G= | CA1955233052 | OTOG | c.6332G= (p.Arg2111=) c.6296G= (p.Arg2099=) c.3350G= (p.Arg1117=) | |
11 | g.17612623G>T | CA379804170 | OTOG | c.6332G>T (p.Arg2111Leu) c.6296G>T (p.Arg2099Leu) c.3350G>T (p.Arg1117Leu) | gnomAD v4 |
11 | g.17612624G>A | CA473305695 | OTOG | c.6333G>A (p.Arg2111=) c.6297G>A (p.Arg2099=) c.3351G>A (p.Arg1117=) | gnomAD v4 |
11 | g.17612624G>C | CA473305696 | OTOG | c.6333G>C (p.Arg2111=) c.6297G>C (p.Arg2099=) c.3351G>C (p.Arg1117=) | |
11 | g.17612624G= | CA1955233053 | OTOG | c.6333G= (p.Arg2111=) c.6297G= (p.Arg2099=) c.3351G= (p.Arg1117=) | |
11 | g.17612624G>T | CA473305697 | OTOG | c.6333G>T (p.Arg2111=) c.6297G>T (p.Arg2099=) c.3351G>T (p.Arg1117=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612625T>A | CA379804174 | OTOG | c.6334T>A (p.Cys2112Ser) c.6298T>A (p.Cys2100Ser) c.3352T>A (p.Cys1118Ser) | gnomAD v4 |
11 | g.17612625T>C | CA379804175 | OTOG | c.6334T>C (p.Cys2112Arg) c.6298T>C (p.Cys2100Arg) c.3352T>C (p.Cys1118Arg) | |
11 | g.17612625T>G | CA379804172 | OTOG | c.6334T>G (p.Cys2112Gly) c.6298T>G (p.Cys2100Gly) c.3352T>G (p.Cys1118Gly) | |
11 | g.17612626G>A | CA379804176 | OTOG | c.6335G>A (p.Cys2112Tyr) c.6299G>A (p.Cys2100Tyr) c.3353G>A (p.Cys1118Tyr) | |
11 | g.17612626G>C | CA379804177 | OTOG | c.6335G>C (p.Cys2112Ser) c.6299G>C (p.Cys2100Ser) c.3353G>C (p.Cys1118Ser) | |
11 | g.17612626G>T | CA379804179 | OTOG | c.6335G>T (p.Cys2112Phe) c.6299G>T (p.Cys2100Phe) c.3353G>T (p.Cys1118Phe) | gnomAD v4 |
11 | g.17612627C>A | CA379804180 | OTOG | c.6336C>A (p.Cys2112Ter) c.6300C>A (p.Cys2100Ter) c.3354C>A (p.Cys1118Ter) | dbSNP gnomAD v4 |
11 | g.17612627C= | CA1955233054 | OTOG | c.6336C= (p.Cys2112=) c.6300C= (p.Cys2100=) c.3354C= (p.Cys1118=) | |
11 | g.17612627C>G | CA379804181 | OTOG | c.6336C>G (p.Cys2112Trp) c.6300C>G (p.Cys2100Trp) c.3354C>G (p.Cys1118Trp) | |
11 | g.17612627C>T | CA473305701 | OTOG | c.6336C>T (p.Cys2112=) c.6300C>T (p.Cys2100=) c.3354C>T (p.Cys1118=) | gnomAD v4 |
11 | g.17612628T>A | CA379804185 | OTOG | c.6337T>A (p.Ser2113Thr) c.6301T>A (p.Ser2101Thr) c.3355T>A (p.Ser1119Thr) | |
11 | g.17612628T>C | CA379804183 | OTOG | c.6337T>C (p.Ser2113Pro) c.6301T>C (p.Ser2101Pro) c.3355T>C (p.Ser1119Pro) | |
11 | g.17612628T>G | CA379804182 | OTOG | c.6337T>G (p.Ser2113Ala) c.6301T>G (p.Ser2101Ala) c.3355T>G (p.Ser1119Ala) | |
11 | g.17612629C>A | CA379804186 | OTOG | c.6338C>A (p.Ser2113Ter) c.6302C>A (p.Ser2101Ter) c.3356C>A (p.Ser1119Ter) | |
11 | g.17612629C>G | CA379804188 | OTOG | c.6338C>G (p.Ser2113Ter) c.6302C>G (p.Ser2101Ter) c.3356C>G (p.Ser1119Ter) | |
11 | g.17612629C>T | CA379804189 | OTOG | c.6338C>T (p.Ser2113Leu) c.6302C>T (p.Ser2101Leu) c.3356C>T (p.Ser1119Leu) | gnomAD v4 |
11 | g.17612630A>C | CA473305703 | OTOG | c.6339A>C (p.Ser2113=) c.6303A>C (p.Ser2101=) c.3357A>C (p.Ser1119=) | |
11 | g.17612630A>G | CA473305704 | OTOG | c.6339A>G (p.Ser2113=) c.6303A>G (p.Ser2101=) c.3357A>G (p.Ser1119=) | |
11 | g.17612630A>T | CA473305705 | OTOG | c.6339A>T (p.Ser2113=) c.6303A>T (p.Ser2101=) c.3357A>T (p.Ser1119=) | gnomAD v4 |
11 | g.17612631A= | CA1955233055 | OTOG | c.6340A= (p.Ile2114=) c.6304A= (p.Ile2102=) c.3358A= (p.Ile1120=) | |
11 | g.17612631A>C | CA379804191 | OTOG | c.6340A>C (p.Ile2114Leu) c.6304A>C (p.Ile2102Leu) c.3358A>C (p.Ile1120Leu) | |
11 | g.17612631A>G | CA379804193 | OTOG | c.6340A>G (p.Ile2114Val) c.6304A>G (p.Ile2102Val) c.3358A>G (p.Ile1120Val) | dbSNP gnomAD v4 |
11 | g.17612631A>T | CA379804194 | OTOG | c.6340A>T (p.Ile2114Phe) c.6304A>T (p.Ile2102Phe) c.3358A>T (p.Ile1120Phe) | |
11 | g.17612632T>A | CA379804196 | OTOG | c.6341T>A (p.Ile2114Asn) c.6305T>A (p.Ile2102Asn) c.3359T>A (p.Ile1120Asn) | |
11 | g.17612632T>C | CA379804198 | OTOG | c.6341T>C (p.Ile2114Thr) c.6305T>C (p.Ile2102Thr) c.3359T>C (p.Ile1120Thr) | gnomAD v4 |
11 | g.17612632T>G | CA379804197 | OTOG | c.6341T>G (p.Ile2114Ser) c.6305T>G (p.Ile2102Ser) c.3359T>G (p.Ile1120Ser) | |
11 | g.17612633C>A | CA473305707 | OTOG | c.6342C>A (p.Ile2114=) c.6306C>A (p.Ile2102=) c.3360C>A (p.Ile1120=) | |
11 | g.17612633C>G | CA379804199 | OTOG | c.6342C>G (p.Ile2114Met) c.6306C>G (p.Ile2102Met) c.3360C>G (p.Ile1120Met) | |
11 | g.17612633C>T | CA473305708 | OTOG | c.6342C>T (p.Ile2114=) c.6306C>T (p.Ile2102=) c.3360C>T (p.Ile1120=) | |
11 | g.17612634T>A | CA379804201 | OTOG | c.6343T>A (p.Phe2115Ile) c.6307T>A (p.Phe2103Ile) c.3361T>A (p.Phe1121Ile) | |
11 | g.17612634T>C | CA218478788 | OTOG | c.6343T>C (p.Phe2115Leu) c.6307T>C (p.Phe2103Leu) c.3361T>C (p.Phe1121Leu) | dbSNP gnomAD v4 |
11 | g.17612634T>G | CA379804203 | OTOG | c.6343T>G (p.Phe2115Val) c.6307T>G (p.Phe2103Val) c.3361T>G (p.Phe1121Val) | |
11 | g.17612634T= | CA1955233056 | OTOG | c.6343T= (p.Phe2115=) c.6307T= (p.Phe2103=) c.3361T= (p.Phe1121=) | |
11 | g.17612635T>A | CA379804205 | OTOG | c.6344T>A (p.Phe2115Tyr) c.6308T>A (p.Phe2103Tyr) c.3362T>A (p.Phe1121Tyr) | |
11 | g.17612635T>C | CA379804207 | OTOG | c.6344T>C (p.Phe2115Ser) c.6308T>C (p.Phe2103Ser) c.3362T>C (p.Phe1121Ser) | |
11 | g.17612635T>G | CA379804208 | OTOG | c.6344T>G (p.Phe2115Cys) c.6308T>G (p.Phe2103Cys) c.3362T>G (p.Phe1121Cys) | gnomAD v4 |
11 | g.17612636C>A | CA379804210 | OTOG | c.6345C>A (p.Phe2115Leu) c.6309C>A (p.Phe2103Leu) c.3363C>A (p.Phe1121Leu) | gnomAD v4 |
11 | g.17612636C= | CA1955233057 | OTOG | c.6345C= (p.Phe2115=) c.6309C= (p.Phe2103=) c.3363C= (p.Phe1121=) | |
11 | g.17612636C>G | CA218478805 | OTOG | c.6345C>G (p.Phe2115Leu) c.6309C>G (p.Phe2103Leu) c.3363C>G (p.Phe1121Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612636C>T | CA473305712 | OTOG | c.6345C>T (p.Phe2115=) c.6309C>T (p.Phe2103=) c.3363C>T (p.Phe1121=) | |
11 | g.17612637C>A | CA379804213 | OTOG | c.6346C>A (p.Pro2116Thr) c.6310C>A (p.Pro2104Thr) c.3364C>A (p.Pro1122Thr) | gnomAD v4 |
11 | g.17612637C>G | CA379804215 | OTOG | c.6346C>G (p.Pro2116Ala) c.6310C>G (p.Pro2104Ala) c.3364C>G (p.Pro1122Ala) | |
11 | g.17612637C>T | CA379804217 | OTOG | c.6346C>T (p.Pro2116Ser) c.6310C>T (p.Pro2104Ser) c.3364C>T (p.Pro1122Ser) | gnomAD v4 |
11 | g.17612638C>A | CA379804221 | OTOG | c.6347C>A (p.Pro2116His) c.6311C>A (p.Pro2104His) c.3365C>A (p.Pro1122His) | gnomAD v4 |
11 | g.17612638C= | CA1955233058 | OTOG | c.6347C= (p.Pro2116=) c.6311C= (p.Pro2104=) c.3365C= (p.Pro1122=) | |
11 | g.17612638C>G | CA379804220 | OTOG | c.6347C>G (p.Pro2116Arg) c.6311C>G (p.Pro2104Arg) c.3365C>G (p.Pro1122Arg) | |
11 | g.17612638C>T | CA130587 | OTOG | c.6347C>T (p.Pro2116Leu) c.6311C>T (p.Pro2104Leu) c.3365C>T (p.Pro1122Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.17612639T>A | CA473305718 | OTOG | c.6348T>A (p.Pro2116=) c.6312T>A (p.Pro2104=) c.3366T>A (p.Pro1122=) | |
11 | g.17612639T>C | CA473305716 | OTOG | c.6348T>C (p.Pro2116=) c.6312T>C (p.Pro2104=) c.3366T>C (p.Pro1122=) | gnomAD v4 |
11 | g.17612639T>G | CA473305717 | OTOG | c.6348T>G (p.Pro2116=) c.6312T>G (p.Pro2104=) c.3366T>G (p.Pro1122=) | |
11 | g.17612640G>A | CA379804222 | OTOG | c.6349G>A (p.Asp2117Asn) c.6313G>A (p.Asp2105Asn) c.3367G>A (p.Asp1123Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612640G>C | CA379804225 | OTOG | c.6349G>C (p.Asp2117His) c.6313G>C (p.Asp2105His) c.3367G>C (p.Asp1123His) | gnomAD v4 |
11 | g.17612640G= | CA1955233059 | OTOG | c.6349G= (p.Asp2117=) c.6313G= (p.Asp2105=) c.3367G= (p.Asp1123=) | |
11 | g.17612640G>T | CA379804223 | OTOG | c.6349G>T (p.Asp2117Tyr) c.6313G>T (p.Asp2105Tyr) c.3367G>T (p.Asp1123Tyr) | |
11 | g.17612641A>C | CA379804226 | OTOG | c.6350A>C (p.Asp2117Ala) c.6314A>C (p.Asp2105Ala) c.3368A>C (p.Asp1123Ala) | gnomAD v4 |
11 | g.17612641A>G | CA379804228 | OTOG | c.6350A>G (p.Asp2117Gly) c.6314A>G (p.Asp2105Gly) c.3368A>G (p.Asp1123Gly) | |
11 | g.17612641A>T | CA379804227 | OTOG | c.6350A>T (p.Asp2117Val) c.6314A>T (p.Asp2105Val) c.3368A>T (p.Asp1123Val) | |
11 | g.17612642C>A | CA379804229 | OTOG | c.6351C>A (p.Asp2117Glu) c.6315C>A (p.Asp2105Glu) c.3369C>A (p.Asp1123Glu) | gnomAD v4 |
11 | g.17612642C>G | CA379804230 | OTOG | c.6351C>G (p.Asp2117Glu) c.6315C>G (p.Asp2105Glu) c.3369C>G (p.Asp1123Glu) | |
11 | g.17612642C>T | CA473305720 | OTOG | c.6351C>T (p.Asp2117=) c.6315C>T (p.Asp2105=) c.3369C>T (p.Asp1123=) | |
11 | g.17612643C>A | CA379804231 | OTOG | c.6352C>A (p.Leu2118Met) c.6316C>A (p.Leu2106Met) c.3370C>A (p.Leu1124Met) | dbSNP gnomAD v4 |
11 | g.17612643C= | CA1955233060 | OTOG | c.6352C= (p.Leu2118=) c.6316C= (p.Leu2106=) c.3370C= (p.Leu1124=) | |
11 | g.17612643C>G | CA379804232 | OTOG | c.6352C>G (p.Leu2118Val) c.6316C>G (p.Leu2106Val) c.3370C>G (p.Leu1124Val) | |
11 | g.17612643C>T | CA473305722 | OTOG | c.6352C>T (p.Leu2118=) c.6316C>T (p.Leu2106=) c.3370C>T (p.Leu1124=) | dbSNP |
11 | g.17612644T>A | CA379804234 | OTOG | c.6353T>A (p.Leu2118Gln) c.6317T>A (p.Leu2106Gln) c.3371T>A (p.Leu1124Gln) | gnomAD v4 |
11 | g.17612644T>C | CA379804236 | OTOG | c.6353T>C (p.Leu2118Pro) c.6317T>C (p.Leu2106Pro) c.3371T>C (p.Leu1124Pro) | |
11 | g.17612644T>G | CA379804237 | OTOG | c.6353T>G (p.Leu2118Arg) c.6317T>G (p.Leu2106Arg) c.3371T>G (p.Leu1124Arg) | |
11 | g.17612645G>A | CA473305723 | OTOG | c.6354G>A (p.Leu2118=) c.6318G>A (p.Leu2106=) c.3372G>A (p.Leu1124=) | |
11 | g.17612645G>C | CA473305724 | OTOG | c.6354G>C (p.Leu2118=) c.6318G>C (p.Leu2106=) c.3372G>C (p.Leu1124=) | |
11 | g.17612645G>T | CA473305725 | OTOG | c.6354G>T (p.Leu2118=) c.6318G>T (p.Leu2106=) c.3372G>T (p.Leu1124=) | |
11 | g.17612646A>C | CA379804240 | OTOG | c.6355A>C (p.Ser2119Arg) c.6319A>C (p.Ser2107Arg) c.3373A>C (p.Ser1125Arg) | |
11 | g.17612646A>G | CA379804238 | OTOG | c.6355A>G (p.Ser2119Gly) c.6319A>G (p.Ser2107Gly) c.3373A>G (p.Ser1125Gly) | |
11 | g.17612646A>T | CA379804239 | OTOG | c.6355A>T (p.Ser2119Cys) c.6319A>T (p.Ser2107Cys) c.3373A>T (p.Ser1125Cys) | |
11 | g.17612647G>A | CA379804241 | OTOG | c.6356G>A (p.Ser2119Asn) c.6320G>A (p.Ser2107Asn) c.3374G>A (p.Ser1125Asn) | gnomAD v4 |
11 | g.17612647G>C | CA379804242 | OTOG | c.6356G>C (p.Ser2119Thr) c.6320G>C (p.Ser2107Thr) c.3374G>C (p.Ser1125Thr) | |
11 | g.17612647G>T | CA379804243 | OTOG | c.6356G>T (p.Ser2119Ile) c.6320G>T (p.Ser2107Ile) c.3374G>T (p.Ser1125Ile) | |
11 | g.17612648C>A | CA379804244 | OTOG | c.6357C>A (p.Ser2119Arg) c.6321C>A (p.Ser2107Arg) c.3375C>A (p.Ser1125Arg) | |
11 | g.17612648C= | CA1955233061 | OTOG | c.6357C= (p.Ser2119=) c.6321C= (p.Ser2107=) c.3375C= (p.Ser1125=) | |
11 | g.17612648C>G | CA5906020 | OTOG | c.6357C>G (p.Ser2119Arg) c.6321C>G (p.Ser2107Arg) c.3375C>G (p.Ser1125Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612648C>T | CA473305728 | OTOG | c.6357C>T (p.Ser2119=) c.6321C>T (p.Ser2107=) c.3375C>T (p.Ser1125=) | |
11 | g.17612649T>A | CA379804245 | OTOG | c.6358T>A (p.Phe2120Ile) c.6322T>A (p.Phe2108Ile) c.3376T>A (p.Phe1126Ile) | |
11 | g.17612649T>C | CA379804247 | OTOG | c.6358T>C (p.Phe2120Leu) c.6322T>C (p.Phe2108Leu) c.3376T>C (p.Phe1126Leu) | |
11 | g.17612649T>G | CA379804246 | OTOG | c.6358T>G (p.Phe2120Val) c.6322T>G (p.Phe2108Val) c.3376T>G (p.Phe1126Val) | |
11 | g.17612650T>A | CA379804248 | OTOG | c.6359T>A (p.Phe2120Tyr) c.6323T>A (p.Phe2108Tyr) c.3377T>A (p.Phe1126Tyr) | gnomAD v4 |
11 | g.17612650T>C | CA379804249 | OTOG | c.6359T>C (p.Phe2120Ser) c.6323T>C (p.Phe2108Ser) c.3377T>C (p.Phe1126Ser) | |
11 | g.17612650T>G | CA379804251 | OTOG | c.6359T>G (p.Phe2120Cys) c.6323T>G (p.Phe2108Cys) c.3377T>G (p.Phe1126Cys) | |
11 | g.17612651C>A | CA379804252 | OTOG | c.6360C>A (p.Phe2120Leu) c.6324C>A (p.Phe2108Leu) c.3378C>A (p.Phe1126Leu) | gnomAD v4 |
11 | g.17612651C= | CA1955233062 | OTOG | c.6360C= (p.Phe2120=) c.6324C= (p.Phe2108=) c.3378C= (p.Phe1126=) | |
11 | g.17612651C>G | CA379804254 | OTOG | c.6360C>G (p.Phe2120Leu) c.6324C>G (p.Phe2108Leu) c.3378C>G (p.Phe1126Leu) | |
11 | g.17612651C>T | CA5906021 | OTOG | c.6360C>T (p.Phe2120=) c.6324C>T (p.Phe2108=) c.3378C>T (p.Phe1126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612652G>A | CA218478819 | OTOG | c.6361G>A (p.Val2121Met) c.6325G>A (p.Val2109Met) c.3379G>A (p.Val1127Met) | dbSNP gnomAD v4 |
11 | g.17612652G>C | CA379804257 | OTOG | c.6361G>C (p.Val2121Leu) c.6325G>C (p.Val2109Leu) c.3379G>C (p.Val1127Leu) | dbSNP |
11 | g.17612652G= | CA1955233063 | OTOG | c.6361G= (p.Val2121=) c.6325G= (p.Val2109=) c.3379G= (p.Val1127=) | |
11 | g.17612652G>T | CA379804259 | OTOG | c.6361G>T (p.Val2121Leu) c.6325G>T (p.Val2109Leu) c.3379G>T (p.Val1127Leu) | gnomAD v4 |
11 | g.17612653T>A | CA379804260 | OTOG | c.6362T>A (p.Val2121Glu) c.6326T>A (p.Val2109Glu) c.3380T>A (p.Val1127Glu) | |
11 | g.17612653T>C | CA5906022 | OTOG | c.6362T>C (p.Val2121Ala) c.6326T>C (p.Val2109Ala) c.3380T>C (p.Val1127Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612653T>G | CA379804263 | OTOG | c.6362T>G (p.Val2121Gly) c.6326T>G (p.Val2109Gly) c.3380T>G (p.Val1127Gly) | dbSNP |
11 | g.17612653T= | CA1955233064 | OTOG | c.6362T= (p.Val2121=) c.6326T= (p.Val2109=) c.3380T= (p.Val1127=) | |
11 | g.17612654G>A | CA473305734 | OTOG | c.6363G>A (p.Val2121=) c.6327G>A (p.Val2109=) c.3381G>A (p.Val1127=) | |
11 | g.17612654G>C | CA473305736 | OTOG | c.6363G>C (p.Val2121=) c.6327G>C (p.Val2109=) c.3381G>C (p.Val1127=) | |
11 | g.17612654G>T | CA473305737 | OTOG | c.6363G>T (p.Val2121=) c.6327G>T (p.Val2109=) c.3381G>T (p.Val1127=) | |
11 | g.17612655A>C | CA379804267 | OTOG | c.6364A>C (p.Thr2122Pro) c.6328A>C (p.Thr2110Pro) c.3382A>C (p.Thr1128Pro) | |
11 | g.17612655A>G | CA379804264 | OTOG | c.6364A>G (p.Thr2122Ala) c.6328A>G (p.Thr2110Ala) c.3382A>G (p.Thr1128Ala) | |
11 | g.17612655A>T | CA379804266 | OTOG | c.6364A>T (p.Thr2122Ser) c.6328A>T (p.Thr2110Ser) c.3382A>T (p.Thr1128Ser) | |
11 | g.17612656C>A | CA379804269 | OTOG | c.6365C>A (p.Thr2122Asn) c.6329C>A (p.Thr2110Asn) c.3383C>A (p.Thr1128Asn) | gnomAD v4 |
11 | g.17612656C= | CA1955233065 | OTOG | c.6365C= (p.Thr2122=) c.6329C= (p.Thr2110=) c.3383C= (p.Thr1128=) | |
11 | g.17612656C>G | CA379804271 | OTOG | c.6365C>G (p.Thr2122Ser) c.6329C>G (p.Thr2110Ser) c.3383C>G (p.Thr1128Ser) | gnomAD v4 |
11 | g.17612656C>T | CA5906023 | OTOG | c.6365C>T (p.Thr2122Ile) c.6329C>T (p.Thr2110Ile) c.3383C>T (p.Thr1128Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612657del | CA2580082825 | OTOG | c.6366del (p.Phe2123SerfsTer6) c.6330del (p.Phe2111SerfsTer6) c.3384del (p.Phe1129SerfsTer6) | ClinVar |
11 | g.17612657C>A | CA473305743 | OTOG | c.6366C>A (p.Thr2122=) c.6330C>A (p.Thr2110=) c.3384C>A (p.Thr1128=) | |
11 | g.17612657C= | CA1955233066 | OTOG | c.6366C= (p.Thr2122=) c.6330C= (p.Thr2110=) c.3384C= (p.Thr1128=) | |
11 | g.17612657C>G | CA473305742 | OTOG | c.6366C>G (p.Thr2122=) c.6330C>G (p.Thr2110=) c.3384C>G (p.Thr1128=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612657C>T | CA473305741 | OTOG | c.6366C>T (p.Thr2122=) c.6330C>T (p.Thr2110=) c.3384C>T (p.Thr1128=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612658T>A | CA379804273 | OTOG | c.6367T>A (p.Phe2123Ile) c.6331T>A (p.Phe2111Ile) c.3385T>A (p.Phe1129Ile) | |
11 | g.17612658T>C | CA379804274 | OTOG | c.6367T>C (p.Phe2123Leu) c.6331T>C (p.Phe2111Leu) c.3385T>C (p.Phe1129Leu) | gnomAD v4 |
11 | g.17612658T>G | CA379804276 | OTOG | c.6367T>G (p.Phe2123Val) c.6331T>G (p.Phe2111Val) c.3385T>G (p.Phe1129Val) | |
11 | g.17612659T>A | CA379804281 | OTOG | c.6368T>A (p.Phe2123Tyr) c.6332T>A (p.Phe2111Tyr) c.3386T>A (p.Phe1129Tyr) | |
11 | g.17612659T>C | CA379804278 | OTOG | c.6368T>C (p.Phe2123Ser) c.6332T>C (p.Phe2111Ser) c.3386T>C (p.Phe1129Ser) | |
11 | g.17612659T>G | CA379804279 | OTOG | c.6368T>G (p.Phe2123Cys) c.6332T>G (p.Phe2111Cys) c.3386T>G (p.Phe1129Cys) | |
11 | g.17612660C>A | CA379804283 | OTOG | c.6369C>A (p.Phe2123Leu) c.6333C>A (p.Phe2111Leu) c.3387C>A (p.Phe1129Leu) | |
11 | g.17612660C= | CA1955233067 | OTOG | c.6369C= (p.Phe2123=) c.6333C= (p.Phe2111=) c.3387C= (p.Phe1129=) | |
11 | g.17612660C>G | CA379804285 | OTOG | c.6369C>G (p.Phe2123Leu) c.6333C>G (p.Phe2111Leu) c.3387C>G (p.Phe1129Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612660C>T | CA473305745 | OTOG | c.6369C>T (p.Phe2123=) c.6333C>T (p.Phe2111=) c.3387C>T (p.Phe1129=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17612661G>A | CA379804286 | OTOG | c.6370G>A (p.Asp2124Asn) c.6334G>A (p.Asp2112Asn) c.3388G>A (p.Asp1130Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612661G>C | CA379804287 | OTOG | c.6370G>C (p.Asp2124His) c.6334G>C (p.Asp2112His) c.3388G>C (p.Asp1130His) | gnomAD v4 |
11 | g.17612661G= | CA1955233068 | OTOG | c.6370G= (p.Asp2124=) c.6334G= (p.Asp2112=) c.3388G= (p.Asp1130=) | |
11 | g.17612661G>T | CA379804288 | OTOG | c.6370G>T (p.Asp2124Tyr) c.6334G>T (p.Asp2112Tyr) c.3388G>T (p.Asp1130Tyr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612662A>C | CA379804290 | OTOG | c.6371A>C (p.Asp2124Ala) c.6335A>C (p.Asp2112Ala) c.3389A>C (p.Asp1130Ala) | |
11 | g.17612662A>G | CA379804295 | OTOG | c.6371A>G (p.Asp2124Gly) c.6335A>G (p.Asp2112Gly) c.3389A>G (p.Asp1130Gly) | |
11 | g.17612662A>T | CA379804292 | OTOG | c.6371A>T (p.Asp2124Val) c.6335A>T (p.Asp2112Val) c.3389A>T (p.Asp1130Val) | |
11 | g.17612663T>A | CA379804297 | OTOG | c.6372T>A (p.Asp2124Glu) c.6336T>A (p.Asp2112Glu) c.3390T>A (p.Asp1130Glu) | |
11 | g.17612663T>C | CA473305747 | OTOG | c.6372T>C (p.Asp2124=) c.6336T>C (p.Asp2112=) c.3390T>C (p.Asp1130=) | ClinVar gnomAD v4 |
11 | g.17612663T>G | CA379804298 | OTOG | c.6372T>G (p.Asp2124Glu) c.6336T>G (p.Asp2112Glu) c.3390T>G (p.Asp1130Glu) | |
11 | g.17612664G>A | CA218478823 | OTOG | c.6373G>A (p.Gly2125Arg) c.6337G>A (p.Gly2113Arg) c.3391G>A (p.Gly1131Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612664G>C | CA379804300 | OTOG | c.6373G>C (p.Gly2125Arg) c.6337G>C (p.Gly2113Arg) c.3391G>C (p.Gly1131Arg) | |
11 | g.17612664G= | CA1955233069 | OTOG | c.6373G= (p.Gly2125=) c.6337G= (p.Gly2113=) c.3391G= (p.Gly1131=) | |
11 | g.17612664G>T | CA379804301 | OTOG | c.6373G>T (p.Gly2125Trp) c.6337G>T (p.Gly2113Trp) c.3391G>T (p.Gly1131Trp) | |
11 | g.17612665G>A | CA379804303 | OTOG | c.6374G>A (p.Gly2125Glu) c.6338G>A (p.Gly2113Glu) c.3392G>A (p.Gly1131Glu) | |
11 | g.17612665G>C | CA379804304 | OTOG | c.6374G>C (p.Gly2125Ala) c.6338G>C (p.Gly2113Ala) c.3392G>C (p.Gly1131Ala) | |
11 | g.17612665G>T | CA379804305 | OTOG | c.6374G>T (p.Gly2125Val) c.6338G>T (p.Gly2113Val) c.3392G>T (p.Gly1131Val) | |
11 | g.17612666G>A | CA473305751 | OTOG | c.6375G>A (p.Gly2125=) c.6339G>A (p.Gly2113=) c.3393G>A (p.Gly1131=) | |
11 | g.17612666G>C | CA473305752 | OTOG | c.6375G>C (p.Gly2125=) c.6339G>C (p.Gly2113=) c.3393G>C (p.Gly1131=) | |
11 | g.17612666G>T | CA473305753 | OTOG | c.6375G>T (p.Gly2125=) c.6339G>T (p.Gly2113=) c.3393G>T (p.Gly1131=) | |
11 | g.17612667A= | CA1955233070 | OTOG | c.6376A= (p.Ser2126=) c.6340A= (p.Ser2114=) c.3394A= (p.Ser1132=) | |
11 | g.17612667A>C | CA379804307 | OTOG | c.6376A>C (p.Ser2126Arg) c.6340A>C (p.Ser2114Arg) c.3394A>C (p.Ser1132Arg) | gnomAD v4 |
11 | g.17612667A>G | CA379804309 | OTOG | c.6376A>G (p.Ser2126Gly) c.6340A>G (p.Ser2114Gly) c.3394A>G (p.Ser1132Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612667A>T | CA379804311 | OTOG | c.6376A>T (p.Ser2126Cys) c.6340A>T (p.Ser2114Cys) c.3394A>T (p.Ser1132Cys) | |
11 | g.17612668G>A | CA379804315 | OTOG | c.6377G>A (p.Ser2126Asn) c.6341G>A (p.Ser2114Asn) c.3395G>A (p.Ser1132Asn) | gnomAD v4 |
11 | g.17612668G>C | CA379804312 | OTOG | c.6377G>C (p.Ser2126Thr) c.6341G>C (p.Ser2114Thr) c.3395G>C (p.Ser1132Thr) | |
11 | g.17612668G>T | CA379804314 | OTOG | c.6377G>T (p.Ser2126Ile) c.6341G>T (p.Ser2114Ile) c.3395G>T (p.Ser1132Ile) | |
11 | g.17612668_17612669delinsGC | CA1955233071 | OTOG | c.6377_6378delinsGC (p.Ser2126=) c.6341_6342delinsGC (p.Ser2114=) c.3395_3396delinsGC (p.Ser1132=) | |
11 | g.17612669C>A | CA379804317 | OTOG | c.6378C>A (p.Ser2126Arg) c.6342C>A (p.Ser2114Arg) c.3396C>A (p.Ser1132Arg) | dbSNP |
11 | g.17612669C= | CA1955233073 | OTOG | c.6378C= (p.Ser2126=) c.6342C= (p.Ser2114=) c.3396C= (p.Ser1132=) | |
11 | g.17612669C>G | CA379804318 | OTOG | c.6378C>G (p.Ser2126Arg) c.6342C>G (p.Ser2114Arg) c.3396C>G (p.Ser1132Arg) | |
11 | g.17612669C>T | CA473305757 | OTOG | c.6378C>T (p.Ser2126=) c.6342C>T (p.Ser2114=) c.3396C>T (p.Ser1132=) | gnomAD v4 |
11 | g.17612670del | CA1955233072 | OTOG | c.6379del (p.His2127ThrfsTer2) c.6343del (p.His2115ThrfsTer2) c.3397del (p.His1133ThrfsTer2) | dbSNP |
11 | g.17612670C>A | CA379804319 | OTOG | c.6379C>A (p.His2127Asn) c.6343C>A (p.His2115Asn) c.3397C>A (p.His1133Asn) | |
11 | g.17612670C>G | CA379804320 | OTOG | c.6379C>G (p.His2127Asp) c.6343C>G (p.His2115Asp) c.3397C>G (p.His1133Asp) | |
11 | g.17612670C>T | CA379804322 | OTOG | c.6379C>T (p.His2127Tyr) c.6343C>T (p.His2115Tyr) c.3397C>T (p.His1133Tyr) | gnomAD v4 |
11 | g.17612671_17612677del | CA2612686819 | OTOG | c.6380_6386del (p.His2127LeufsTer?) c.6344_6350del (p.His2115LeufsTer?) c.3398_3404del (p.His1133LeufsTer?) | gnomAD v4 |
11 | g.17612671A= | CA1955233074 | OTOG | c.6380A= (p.His2127=) c.6344A= (p.His2115=) c.3398A= (p.His1133=) | |
11 | g.17612671A>C | CA218478824 | OTOG | c.6380A>C (p.His2127Pro) c.6344A>C (p.His2115Pro) c.3398A>C (p.His1133Pro) | dbSNP |
11 | g.17612671A>G | CA379804325 | OTOG | c.6380A>G (p.His2127Arg) c.6344A>G (p.His2115Arg) c.3398A>G (p.His1133Arg) | |
11 | g.17612671A>T | CA379804326 | OTOG | c.6380A>T (p.His2127Leu) c.6344A>T (p.His2115Leu) c.3398A>T (p.His1133Leu) | |
11 | g.17612672C>A | CA379804328 | OTOG | c.6381C>A (p.His2127Gln) c.6345C>A (p.His2115Gln) c.3399C>A (p.His1133Gln) | |
11 | g.17612672C= | CA1955233075 | OTOG | c.6381C= (p.His2127=) c.6345C= (p.His2115=) c.3399C= (p.His1133=) | |
11 | g.17612672C>G | CA379804330 | OTOG | c.6381C>G (p.His2127Gln) c.6345C>G (p.His2115Gln) c.3399C>G (p.His1133Gln) | |
11 | g.17612672C>T | CA473305759 | OTOG | c.6381C>T (p.His2127=) c.6345C>T (p.His2115=) c.3399C>T (p.His1133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612673G>A | CA218478825 | OTOG | c.6382G>A (p.Val2128Ile) c.6346G>A (p.Val2116Ile) c.3400G>A (p.Val1134Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612673G>C | CA379804332 | OTOG | c.6382G>C (p.Val2128Leu) c.6346G>C (p.Val2116Leu) c.3400G>C (p.Val1134Leu) | |
11 | g.17612673G= | CA1955233076 | OTOG | c.6382G= (p.Val2128=) c.6346G= (p.Val2116=) c.3400G= (p.Val1134=) | |
11 | g.17612673G>T | CA379804333 | OTOG | c.6382G>T (p.Val2128Leu) c.6346G>T (p.Val2116Leu) c.3400G>T (p.Val1134Leu) | |
11 | g.17612674T>A | CA379804337 | OTOG | c.6383T>A (p.Val2128Glu) c.6347T>A (p.Val2116Glu) c.3401T>A (p.Val1134Glu) | |
11 | g.17612674T>C | CA379804336 | OTOG | c.6383T>C (p.Val2128Ala) c.6347T>C (p.Val2116Ala) c.3401T>C (p.Val1134Ala) | dbSNP |
11 | g.17612674T>G | CA379804334 | OTOG | c.6383T>G (p.Val2128Gly) c.6347T>G (p.Val2116Gly) c.3401T>G (p.Val1134Gly) | |
11 | g.17612675A>C | CA473305763 | OTOG | c.6384A>C (p.Val2128=) c.6348A>C (p.Val2116=) c.3402A>C (p.Val1134=) | |
11 | g.17612675A>G | CA473305764 | OTOG | c.6384A>G (p.Val2128=) c.6348A>G (p.Val2116=) c.3402A>G (p.Val1134=) | gnomAD v4 |
11 | g.17612675A>T | CA473305765 | OTOG | c.6384A>T (p.Val2128=) c.6348A>T (p.Val2116=) c.3402A>T (p.Val1134=) | |
11 | g.17612676G>A | CA379804339 | OTOG | c.6385G>A (p.Ala2129Thr) c.6349G>A (p.Ala2117Thr) c.3403G>A (p.Ala1135Thr) | dbSNP gnomAD v4 |
11 | g.17612676G>C | CA379804340 | OTOG | c.6385G>C (p.Ala2129Pro) c.6349G>C (p.Ala2117Pro) c.3403G>C (p.Ala1135Pro) | gnomAD v4 |
11 | g.17612676G= | CA1955233077 | OTOG | c.6385G= (p.Ala2129=) c.6349G= (p.Ala2117=) c.3403G= (p.Ala1135=) | |
11 | g.17612676G>T | CA379804342 | OTOG | c.6385G>T (p.Ala2129Ser) c.6349G>T (p.Ala2117Ser) c.3403G>T (p.Ala1135Ser) | |
11 | g.17612677C>A | CA379804343 | OTOG | c.6386C>A (p.Ala2129Asp) c.6350C>A (p.Ala2117Asp) c.3404C>A (p.Ala1135Asp) | gnomAD v4 |
11 | g.17612677C= | CA1955233078 | OTOG | c.6386C= (p.Ala2129=) c.6350C= (p.Ala2117=) c.3404C= (p.Ala1135=) | |
11 | g.17612677C>G | CA379804345 | OTOG | c.6386C>G (p.Ala2129Gly) c.6350C>G (p.Ala2117Gly) c.3404C>G (p.Ala1135Gly) | |
11 | g.17612677C>T | CA218478831 | OTOG | c.6386C>T (p.Ala2129Val) c.6350C>T (p.Ala2117Val) c.3404C>T (p.Ala1135Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612678T>A | CA473305770 | OTOG | c.6387T>A (p.Ala2129=) c.6351T>A (p.Ala2117=) c.3405T>A (p.Ala1135=) | |
11 | g.17612678T>C | CA473305771 | OTOG | c.6387T>C (p.Ala2129=) c.6351T>C (p.Ala2117=) c.3405T>C (p.Ala1135=) | |
11 | g.17612678T>G | CA473305769 | OTOG | c.6387T>G (p.Ala2129=) c.6351T>G (p.Ala2117=) c.3405T>G (p.Ala1135=) | |
11 | g.17612679C>A | CA379804346 | OTOG | c.6388C>A (p.Leu2130Met) c.6352C>A (p.Leu2118Met) c.3406C>A (p.Leu1136Met) | |
11 | g.17612679C= | CA1955233079 | OTOG | c.6388C= (p.Leu2130=) c.6352C= (p.Leu2118=) c.3406C= (p.Leu1136=) | |
11 | g.17612679C>G | CA379804347 | OTOG | c.6388C>G (p.Leu2130Val) c.6352C>G (p.Leu2118Val) c.3406C>G (p.Leu1136Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612679C>T | CA473305772 | OTOG | c.6388C>T (p.Leu2130=) c.6352C>T (p.Leu2118=) c.3406C>T (p.Leu1136=) | |
11 | g.17612680T>A | CA379804349 | OTOG | c.6389T>A (p.Leu2130Gln) c.6353T>A (p.Leu2118Gln) c.3407T>A (p.Leu1136Gln) | |
11 | g.17612680T>C | CA379804351 | OTOG | c.6389T>C (p.Leu2130Pro) c.6353T>C (p.Leu2118Pro) c.3407T>C (p.Leu1136Pro) | |
11 | g.17612680T>G | CA379804352 | OTOG | c.6389T>G (p.Leu2130Arg) c.6353T>G (p.Leu2118Arg) c.3407T>G (p.Leu1136Arg) | |
11 | g.17612681G>A | CA473305775 | OTOG | c.6390G>A (p.Leu2130=) c.6354G>A (p.Leu2118=) c.3408G>A (p.Leu1136=) | gnomAD v4 |
11 | g.17612681G>C | CA218478839 | OTOG | c.6390G>C (p.Leu2130=) c.6354G>C (p.Leu2118=) c.3408G>C (p.Leu1136=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612681G= | CA1955233080 | OTOG | c.6390G= (p.Leu2130=) c.6354G= (p.Leu2118=) c.3408G= (p.Leu1136=) | |
11 | g.17612681G>T | CA473305774 | OTOG | c.6390G>T (p.Leu2130=) c.6354G>T (p.Leu2118=) c.3408G>T (p.Leu1136=) | |
11 | g.17612682T>A | CA379804353 | OTOG | c.6391T>A (p.Phe2131Ile) c.6355T>A (p.Phe2119Ile) c.3409T>A (p.Phe1137Ile) | |
11 | g.17612682T>C | CA379804354 | OTOG | c.6391T>C (p.Phe2131Leu) c.6355T>C (p.Phe2119Leu) c.3409T>C (p.Phe1137Leu) | |
11 | g.17612682T>G | CA379804356 | OTOG | c.6391T>G (p.Phe2131Val) c.6355T>G (p.Phe2119Val) c.3409T>G (p.Phe1137Val) | |
11 | g.17612683T>A | CA379804358 | OTOG | c.6392T>A (p.Phe2131Tyr) c.6356T>A (p.Phe2119Tyr) c.3410T>A (p.Phe1137Tyr) | |
11 | g.17612683T>C | CA379804359 | OTOG | c.6392T>C (p.Phe2131Ser) c.6356T>C (p.Phe2119Ser) c.3410T>C (p.Phe1137Ser) | |
11 | g.17612683T>G | CA218478848 | OTOG | c.6392T>G (p.Phe2131Cys) c.6356T>G (p.Phe2119Cys) c.3410T>G (p.Phe1137Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612683T= | CA1955233081 | OTOG | c.6392T= (p.Phe2131=) c.6356T= (p.Phe2119=) c.3410T= (p.Phe1137=) | |
11 | g.17612684C>A | CA379804361 | OTOG | c.6393C>A (p.Phe2131Leu) c.6357C>A (p.Phe2119Leu) c.3411C>A (p.Phe1137Leu) | |
11 | g.17612684C= | CA1955233082 | OTOG | c.6393C= (p.Phe2131=) c.6357C= (p.Phe2119=) c.3411C= (p.Phe1137=) | |
11 | g.17612684C>G | CA379804363 | OTOG | c.6393C>G (p.Phe2131Leu) c.6357C>G (p.Phe2119Leu) c.3411C>G (p.Phe1137Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612684C>T | CA473305776 | OTOG | c.6393C>T (p.Phe2131=) c.6357C>T (p.Phe2119=) c.3411C>T (p.Phe1137=) | gnomAD v4 |
11 | g.17612685A>C | CA379804365 | OTOG | c.6394A>C (p.Lys2132Gln) c.6358A>C (p.Lys2120Gln) c.3412A>C (p.Lys1138Gln) | |
11 | g.17612685A>G | CA379804366 | OTOG | c.6394A>G (p.Lys2132Glu) c.6358A>G (p.Lys2120Glu) c.3412A>G (p.Lys1138Glu) | |
11 | g.17612685A>T | CA379804368 | OTOG | c.6394A>T (p.Lys2132Ter) c.6358A>T (p.Lys2120Ter) c.3412A>T (p.Lys1138Ter) | |
11 | g.17612686A>C | CA379804370 | OTOG | c.6395A>C (p.Lys2132Thr) c.6359A>C (p.Lys2120Thr) c.3413A>C (p.Lys1138Thr) | |
11 | g.17612686A>G | CA379804372 | OTOG | c.6395A>G (p.Lys2132Arg) c.6359A>G (p.Lys2120Arg) c.3413A>G (p.Lys1138Arg) | |
11 | g.17612686A>T | CA379804373 | OTOG | c.6395A>T (p.Lys2132Met) c.6359A>T (p.Lys2120Met) c.3413A>T (p.Lys1138Met) | |
11 | g.17612687G>A | CA218478871 | OTOG | c.6396G>A (p.Lys2132=) c.6360G>A (p.Lys2120=) c.3414G>A (p.Lys1138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612687G>C | CA379804374 | OTOG | c.6396G>C (p.Lys2132Asn) c.6360G>C (p.Lys2120Asn) c.3414G>C (p.Lys1138Asn) | |
11 | g.17612687G= | CA1955233083 | OTOG | c.6396G= (p.Lys2132=) c.6360G= (p.Lys2120=) c.3414G= (p.Lys1138=) | |
11 | g.17612687G>T | CA379804376 | OTOG | c.6396G>T (p.Lys2132Asn) c.6360G>T (p.Lys2120Asn) c.3414G>T (p.Lys1138Asn) | |
11 | g.17612688G>A | CA379804378 | OTOG | c.6397G>A (p.Glu2133Lys) c.6361G>A (p.Glu2121Lys) c.3415G>A (p.Glu1139Lys) | gnomAD v4 |
11 | g.17612688G>C | CA379804380 | OTOG | c.6397G>C (p.Glu2133Gln) c.6361G>C (p.Glu2121Gln) c.3415G>C (p.Glu1139Gln) | |
11 | g.17612688G>T | CA379804381 | OTOG | c.6397G>T (p.Glu2133Ter) c.6361G>T (p.Glu2121Ter) c.3415G>T (p.Glu1139Ter) | |
11 | g.17612689A>C | CA379804385 | OTOG | c.6398A>C (p.Glu2133Ala) c.6362A>C (p.Glu2121Ala) c.3416A>C (p.Glu1139Ala) | |
11 | g.17612689A>G | CA379804382 | OTOG | c.6398A>G (p.Glu2133Gly) c.6362A>G (p.Glu2121Gly) c.3416A>G (p.Glu1139Gly) | gnomAD v4 |
11 | g.17612689A>T | CA379804384 | OTOG | c.6398A>T (p.Glu2133Val) c.6362A>T (p.Glu2121Val) c.3416A>T (p.Glu1139Val) | |
11 | g.17612690G>A | CA473305778 | OTOG | c.6399G>A (p.Glu2133=) c.6363G>A (p.Glu2121=) c.3417G>A (p.Glu1139=) | |
11 | g.17612690G>C | CA379804386 | OTOG | c.6399G>C (p.Glu2133Asp) c.6363G>C (p.Glu2121Asp) c.3417G>C (p.Glu1139Asp) | |
11 | g.17612690G>T | CA379804387 | OTOG | c.6399G>T (p.Glu2133Asp) c.6363G>T (p.Glu2121Asp) c.3417G>T (p.Glu1139Asp) | |
11 | g.17612691G>A | CA379804388 | OTOG | c.6400G>A (p.Ala2134Thr) c.6364G>A (p.Ala2122Thr) c.3418G>A (p.Ala1140Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612691G>C | CA379804389 | OTOG | c.6400G>C (p.Ala2134Pro) c.6364G>C (p.Ala2122Pro) c.3418G>C (p.Ala1140Pro) | |
11 | g.17612691G= | CA1955233084 | OTOG | c.6400G= (p.Ala2134=) c.6364G= (p.Ala2122=) c.3418G= (p.Ala1140=) | |
11 | g.17612691G>T | CA379804390 | OTOG | c.6400G>T (p.Ala2134Ser) c.6364G>T (p.Ala2122Ser) c.3418G>T (p.Ala1140Ser) | |
11 | g.17612692C>A | CA379804391 | OTOG | c.6401C>A (p.Ala2134Asp) c.6365C>A (p.Ala2122Asp) c.3419C>A (p.Ala1140Asp) | |
11 | g.17612692C>G | CA379804392 | OTOG | c.6401C>G (p.Ala2134Gly) c.6365C>G (p.Ala2122Gly) c.3419C>G (p.Ala1140Gly) | |
11 | g.17612692C>T | CA379804394 | OTOG | c.6401C>T (p.Ala2134Val) c.6365C>T (p.Ala2122Val) c.3419C>T (p.Ala1140Val) | gnomAD v4 |
11 | g.17612693C>A | CA473305779 | OTOG | c.6402C>A (p.Ala2134=) c.6366C>A (p.Ala2122=) c.3420C>A (p.Ala1140=) | |
11 | g.17612693C>G | CA473305780 | OTOG | c.6402C>G (p.Ala2134=) c.6366C>G (p.Ala2122=) c.3420C>G (p.Ala1140=) | |
11 | g.17612693C>T | CA473305781 | OTOG | c.6402C>T (p.Ala2134=) c.6366C>T (p.Ala2122=) c.3420C>T (p.Ala1140=) | gnomAD v4 |
11 | g.17612694A>C | CA379804396 | OTOG | c.6403A>C (p.Ile2135Leu) c.6367A>C (p.Ile2123Leu) c.3421A>C (p.Ile1141Leu) | |
11 | g.17612694A>G | CA379804397 | OTOG | c.6403A>G (p.Ile2135Val) c.6367A>G (p.Ile2123Val) c.3421A>G (p.Ile1141Val) | |
11 | g.17612694A>T | CA379804399 | OTOG | c.6403A>T (p.Ile2135Phe) c.6367A>T (p.Ile2123Phe) c.3421A>T (p.Ile1141Phe) | |
11 | g.17612695T>A | CA379804400 | OTOG | c.6404T>A (p.Ile2135Asn) c.6368T>A (p.Ile2123Asn) c.3422T>A (p.Ile1141Asn) | |
11 | g.17612695T>C | CA379804404 | OTOG | c.6404T>C (p.Ile2135Thr) c.6368T>C (p.Ile2123Thr) c.3422T>C (p.Ile1141Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612695T>G | CA379804402 | OTOG | c.6404T>G (p.Ile2135Ser) c.6368T>G (p.Ile2123Ser) c.3422T>G (p.Ile1141Ser) | |
11 | g.17612695T= | CA1955233085 | OTOG | c.6404T= (p.Ile2135=) c.6368T= (p.Ile2123=) c.3422T= (p.Ile1141=) |