Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.13125928dupCA592076035OPTNc.1149-18dup (n.1149-18dup)
c.1131-18dup (n.1131-18dup)
c.978-18dup (n.978-18dup)
 dbSNP gnomAD v2 gnomAD v4
10g.13125928delCA2608268407OPTNc.1149-18del (n.1149-18del)
c.1131-18del (n.1131-18del)
c.978-18del (n.978-18del)
 gnomAD v4
10g.13125925T>CCA203267939OPTNc.1149-21T>C (n.1149-21T>C)
c.1131-21T>C (n.1131-21T>C)
c.978-21T>C (n.978-21T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.13125925T=CA1891470690OPTNc.1149-21T= (n.1149-21T=)
c.1131-21T= (n.1131-21T=)
c.978-21T= (n.978-21T=)
10g.13125927T>GCA2786690918OPTNc.1149-19T>G (n.1149-19T>G)
c.1131-19T>G (n.1131-19T>G)
c.978-19T>G (n.978-19T>G)
10g.13125928T>ACA5410889OPTNc.1149-18T>A (n.1149-18T>A)
c.1131-18T>A (n.1131-18T>A)
c.978-18T>A (n.978-18T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13125928T=CA1891470693OPTNc.1149-18T= (n.1149-18T=)
c.1131-18T= (n.1131-18T=)
c.978-18T= (n.978-18T=)
10g.13125929A>TCA2574491362OPTNc.1149-17A>T (n.1149-17A>T)
c.1131-17A>T (n.1131-17A>T)
c.978-17A>T (n.978-17A>T)
 gnomAD v4
10g.13125929_13125930insCTCTCAAAAACA1891470695OPTNc.1149-17_1149-16insCTCTCAAAAA (n.1149-17_1149-16insCTCTCAAAAA)
c.1131-17_1131-16insCTCTCAAAAA (n.1131-17_1131-16insCTCTCAAAAA)
c.978-17_978-16insCTCTCAAAAA (n.978-17_978-16insCTCTCAAAAA)
 dbSNP
10g.13125929_13125931delinsAATCA1891470696OPTNc.1149-17_1149-15delinsAAT (n.1149-17_1149-15delinsAAT)
c.1131-17_1131-15delinsAAT (n.1131-17_1131-15delinsAAT)
c.978-17_978-15delinsAAT (n.978-17_978-15delinsAAT)
10g.13125930A=CA1891470699OPTNc.1149-16A= (n.1149-16A=)
c.1131-16A= (n.1131-16A=)
c.978-16A= (n.978-16A=)
10g.13125930A>GCA661737325OPTNc.1149-16A>G (n.1149-16A>G)
c.1131-16A>G (n.1131-16A>G)
c.978-16A>G (n.978-16A>G)
 dbSNP gnomAD v4
10g.13125932_13125933delCA5410890OPTNc.1149-14_1149-13del (n.1149-14_1149-13del)
c.1131-14_1131-13del (n.1131-14_1131-13del)
c.978-14_978-13del (n.978-14_978-13del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13125931T>ACA1891470707OPTNc.1149-15T>A (n.1149-15T>A)
c.1131-15T>A (n.1131-15T>A)
c.978-15T>A (n.978-15T>A)
 dbSNP
10g.13125931T>CCA5410891OPTNc.1149-15T>C (n.1149-15T>C)
c.1131-15T>C (n.1131-15T>C)
c.978-15T>C (n.978-15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13125931T=CA1891470703OPTNc.1149-15T= (n.1149-15T=)
c.1131-15T= (n.1131-15T=)
c.978-15T= (n.978-15T=)
10g.13125932A=CA1891470715OPTNc.1149-14A= (n.1149-14A=)
c.1131-14A= (n.1131-14A=)
c.978-14A= (n.978-14A=)
10g.13125932A>GCA203267945OPTNc.1149-14A>G (n.1149-14A>G)
c.1131-14A>G (n.1131-14A>G)
c.978-14A>G (n.978-14A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13125932A>TCA2608268410OPTNc.1149-14A>T (n.1149-14A>T)
c.1131-14A>T (n.1131-14A>T)
c.978-14A>T (n.978-14A>T)
 gnomAD v4
10g.13125933T>ACA2740092965OPTNc.1149-13T>A (n.1149-13T>A)
c.1131-13T>A (n.1131-13T>A)
c.978-13T>A (n.978-13T>A)
 ClinVar
10g.13125933T>CCA1891470720OPTNc.1149-13T>C (n.1149-13T>C)
c.1131-13T>C (n.1131-13T>C)
c.978-13T>C (n.978-13T>C)
 dbSNP gnomAD v4
10g.13125933T=CA1891470718OPTNc.1149-13T= (n.1149-13T=)
c.1131-13T= (n.1131-13T=)
c.978-13T= (n.978-13T=)
10g.13125934C>ACA1891470726OPTNc.1149-12C>A (n.1149-12C>A)
c.1131-12C>A (n.1131-12C>A)
c.978-12C>A (n.978-12C>A)
 dbSNP gnomAD v4
10g.13125934C=CA1891470725OPTNc.1149-12C= (n.1149-12C=)
c.1131-12C= (n.1131-12C=)
c.978-12C= (n.978-12C=)
10g.13125934C>GCA2608268411OPTNc.1149-12C>G (n.1149-12C>G)
c.1131-12C>G (n.1131-12C>G)
c.978-12C>G (n.978-12C>G)
 gnomAD v4
10g.13125935T>CCA2608268414OPTNc.1149-11T>C (n.1149-11T>C)
c.1131-11T>C (n.1131-11T>C)
c.978-11T>C (n.978-11T>C)
 gnomAD v4
10g.13125935T>GCA2608268412OPTNc.1149-11T>G (n.1149-11T>G)
c.1131-11T>G (n.1131-11T>G)
c.978-11T>G (n.978-11T>G)
 gnomAD v4
10g.13125940dupCA5410892OPTNc.1149-6dup (n.1149-6dup)
c.1131-6dup (n.1131-6dup)
c.978-6dup (n.978-6dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13125940delCA2608268413OPTNc.1149-6del (n.1149-6del)
c.1131-6del (n.1131-6del)
c.978-6del (n.978-6del)
 gnomAD v4
10g.13125937T>CCA5410893OPTNc.1149-9T>C (n.1149-9T>C)
c.1131-9T>C (n.1131-9T>C)
c.978-9T>C (n.978-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13125937T=CA1891470729OPTNc.1149-9T= (n.1149-9T=)
c.1131-9T= (n.1131-9T=)
c.978-9T= (n.978-9T=)
10g.13125938T>CCA2608268415OPTNc.1149-8T>C (n.1149-8T>C)
c.1131-8T>C (n.1131-8T>C)
c.978-8T>C (n.978-8T>C)
 gnomAD v4
10g.13125939T>CCA592076037OPTNc.1149-7T>C (n.1149-7T>C)
c.1131-7T>C (n.1131-7T>C)
c.978-7T>C (n.978-7T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.13125939T=CA1891470731OPTNc.1149-7T= (n.1149-7T=)
c.1131-7T= (n.1131-7T=)
c.978-7T= (n.978-7T=)
10g.13125940T>ACA2608268416OPTNc.1149-6T>A (n.1149-6T>A)
c.1131-6T>A (n.1131-6T>A)
c.978-6T>A (n.978-6T>A)
 gnomAD v4
10g.13125940T>CCA2608268417OPTNc.1149-6T>C (n.1149-6T>C)
c.1131-6T>C (n.1131-6T>C)
c.978-6T>C (n.978-6T>C)
 gnomAD v4
10g.13125941A>GCA2608268418OPTNc.1149-5A>G (n.1149-5A>G)
c.1131-5A>G (n.1131-5A>G)
c.978-5A>G (n.978-5A>G)
 gnomAD v4
10g.13125942A=CA1891470736OPTNc.1149-4A= (n.1149-4A=)
c.1131-4A= (n.1131-4A=)
c.978-4A= (n.978-4A=)
10g.13125942A>GCA1891470737OPTNc.1149-4A>G (n.1149-4A>G)
c.1131-4A>G (n.1131-4A>G)
c.978-4A>G (n.978-4A>G)
 dbSNP gnomAD v4
10g.13125944A=CA1891470749OPTNc.1149-2A= (n.1149-2A=)
c.1131-2A= (n.1131-2A=)
c.978-2A= (n.978-2A=)
10g.13125944A>CCA376029546OPTNc.1149-2A>C (n.1149-2A>C)
c.1131-2A>C (n.1131-2A>C)
c.978-2A>C (n.978-2A>C)
10g.13125944A>GCA203267951OPTNc.1149-2A>G (n.1149-2A>G)
c.1131-2A>G (n.1131-2A>G)
c.978-2A>G (n.978-2A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.13125944A>TCA376029547OPTNc.1149-2A>T (n.1149-2A>T)
c.1131-2A>T (n.1131-2A>T)
c.978-2A>T (n.978-2A>T)
10g.13125945G>ACA376029550OPTNc.1149-1G>A (n.1149-1G>A)
c.1131-1G>A (n.1131-1G>A)
c.978-1G>A (n.978-1G>A)
 gnomAD v4
10g.13125945G>CCA376029548OPTNc.1149-1G>C (n.1149-1G>C)
c.1131-1G>C (n.1131-1G>C)
c.978-1G>C (n.978-1G>C)
 dbSNP gnomAD v3 gnomAD v4
10g.13125945G=CA1891470755OPTNc.1149-1G= (n.1149-1G=)
c.1131-1G= (n.1131-1G=)
c.978-1G= (n.978-1G=)
10g.13125945G>TCA376029549OPTNc.1149-1G>T (n.1149-1G>T)
c.1131-1G>T (n.1131-1G>T)
c.978-1G>T (n.978-1G>T)
 COSMIC
10g.13125946G>ACA468240638OPTNc.1149G>A (p.Lys383=)
c.1131G>A (p.Lys377=)
c.978G>A (p.Lys326=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13125946G>CCA376029551OPTNc.1149G>C (p.Lys383Asn)
c.1131G>C (p.Lys377Asn)
c.978G>C (p.Lys326Asn)
10g.13125946G=CA1891470761OPTNc.1149G= (p.Lys383=)
c.1131G= (p.Lys377=)
c.978G= (p.Lys326=)
10g.13125946G>TCA376029552OPTNc.1149G>T (p.Lys383Asn)
c.1131G>T (p.Lys377Asn)
c.978G>T (p.Lys326Asn)
10g.13125947T>ACA376029553OPTNc.1150T>A (p.Ser384Thr)
c.1132T>A (p.Ser378Thr)
c.979T>A (p.Ser327Thr)
10g.13125947T>CCA376029554OPTNc.1150T>C (p.Ser384Pro)
c.1132T>C (p.Ser378Pro)
c.979T>C (p.Ser327Pro)
10g.13125947T>GCA376029555OPTNc.1150T>G (p.Ser384Ala)
c.1132T>G (p.Ser378Ala)
c.979T>G (p.Ser327Ala)
10g.13125948C>ACA376029556OPTNc.1151C>A (p.Ser384Tyr)
c.1133C>A (p.Ser378Tyr)
c.980C>A (p.Ser327Tyr)
 dbSNP gnomAD v4
10g.13125948C>GCA376029558OPTNc.1151C>G (p.Ser384Cys)
c.1133C>G (p.Ser378Cys)
c.980C>G (p.Ser327Cys)
10g.13125948C>TCA376029557OPTNc.1151C>T (p.Ser384Phe)
c.1133C>T (p.Ser378Phe)
c.980C>T (p.Ser327Phe)
10g.13125949C>ACA468240639OPTNc.1152C>A (p.Ser384=)
c.1134C>A (p.Ser378=)
c.981C>A (p.Ser327=)
 gnomAD v4
10g.13125949C>GCA468240640OPTNc.1152C>G (p.Ser384=)
c.1134C>G (p.Ser378=)
c.981C>G (p.Ser327=)
 gnomAD v4
10g.13125949C>TCA468240641OPTNc.1152C>T (p.Ser384=)
c.1134C>T (p.Ser378=)
c.981C>T (p.Ser327=)
 gnomAD v4
10g.13125950A>CCA376029559OPTNc.1153A>C (p.Lys385Gln)
c.1135A>C (p.Lys379Gln)
c.982A>C (p.Lys328Gln)
10g.13125950A>GCA376029560OPTNc.1153A>G (p.Lys385Glu)
c.1135A>G (p.Lys379Glu)
c.982A>G (p.Lys328Glu)
10g.13125950A>TCA376029561OPTNc.1153A>T (p.Lys385Ter)
c.1135A>T (p.Lys379Ter)
c.982A>T (p.Lys328Ter)
10g.13125951A=CA1891470762OPTNc.1154A= (p.Lys385=)
c.1136A= (p.Lys379=)
c.983A= (p.Lys328=)
10g.13125951A>CCA376029562OPTNc.1154A>C (p.Lys385Thr)
c.1136A>C (p.Lys379Thr)
c.983A>C (p.Lys328Thr)
10g.13125951A>GCA376029563OPTNc.1154A>G (p.Lys385Arg)
c.1136A>G (p.Lys379Arg)
c.983A>G (p.Lys328Arg)
 ClinVar gnomAD v4
10g.13125951A>TCA376029564OPTNc.1154A>T (p.Lys385Ile)
c.1136A>T (p.Lys379Ile)
c.983A>T (p.Lys328Ile)
 dbSNP gnomAD v4
10g.13125952A=CA1891470767OPTNc.1155A= (p.Lys385=)
c.1137A= (p.Lys379=)
c.984A= (p.Lys328=)
10g.13125952A>CCA376029565OPTNc.1155A>C (p.Lys385Asn)
c.1137A>C (p.Lys379Asn)
c.984A>C (p.Lys328Asn)
10g.13125952A>GCA203267954OPTNc.1155A>G (p.Lys385=)
c.1137A>G (p.Lys379=)
c.984A>G (p.Lys328=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13125952A>TCA376029566OPTNc.1155A>T (p.Lys385Asn)
c.1137A>T (p.Lys379Asn)
c.984A>T (p.Lys328Asn)
 dbSNP
10g.13125953T>ACA376029567OPTNc.1156T>A (p.Leu386Ile)
c.1138T>A (p.Leu380Ile)
c.985T>A (p.Leu329Ile)
10g.13125953T>CCA468240642OPTNc.1156T>C (p.Leu386=)
c.1138T>C (p.Leu380=)
c.985T>C (p.Leu329=)
10g.13125953T>GCA376029568OPTNc.1156T>G (p.Leu386Val)
c.1138T>G (p.Leu380Val)
c.985T>G (p.Leu329Val)
10g.13125954T>ACA376029571OPTNc.1157T>A (p.Leu386Ter)
c.1139T>A (p.Leu380Ter)
c.986T>A (p.Leu329Ter)
10g.13125954T>CCA376029570OPTNc.1157T>C (p.Leu386Ser)
c.1139T>C (p.Leu380Ser)
c.986T>C (p.Leu329Ser)
10g.13125954T>GCA376029569OPTNc.1157T>G (p.Leu386Ter)
c.1139T>G (p.Leu380Ter)
c.986T>G (p.Leu329Ter)
10g.13125955A=CA1891470775OPTNc.1158A= (p.Leu386=)
c.1140A= (p.Leu380=)
c.987A= (p.Leu329=)
10g.13125955A>CCA376029572OPTNc.1158A>C (p.Leu386Phe)
c.1140A>C (p.Leu380Phe)
c.987A>C (p.Leu329Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.13125955A>GCA468240643OPTNc.1158A>G (p.Leu386=)
c.1140A>G (p.Leu380=)
c.987A>G (p.Leu329=)
10g.13125955A>TCA376029573OPTNc.1158A>T (p.Leu386Phe)
c.1140A>T (p.Leu380Phe)
c.987A>T (p.Leu329Phe)
10g.13125956A>CCA376029574OPTNc.1159A>C (p.Thr387Pro)
c.1141A>C (p.Thr381Pro)
c.988A>C (p.Thr330Pro)
10g.13125956A>GCA376029575OPTNc.1159A>G (p.Thr387Ala)
c.1141A>G (p.Thr381Ala)
c.988A>G (p.Thr330Ala)
10g.13125956A>TCA376029576OPTNc.1159A>T (p.Thr387Ser)
c.1141A>T (p.Thr381Ser)
c.988A>T (p.Thr330Ser)
10g.13125957C>ACA376029577OPTNc.1160C>A (p.Thr387Asn)
c.1142C>A (p.Thr381Asn)
c.989C>A (p.Thr330Asn)
 gnomAD v4
10g.13125957C=CA1891470778OPTNc.1160C= (p.Thr387=)
c.1142C= (p.Thr381=)
c.989C= (p.Thr330=)
10g.13125957C>GCA376029578OPTNc.1160C>G (p.Thr387Ser)
c.1142C>G (p.Thr381Ser)
c.989C>G (p.Thr330Ser)
10g.13125957C>TCA376029579OPTNc.1160C>T (p.Thr387Ile)
c.1142C>T (p.Thr381Ile)
c.989C>T (p.Thr330Ile)
 dbSNP
10g.13125958T>ACA468240644OPTNc.1161T>A (p.Thr387=)
c.1143T>A (p.Thr381=)
c.990T>A (p.Thr330=)
10g.13125958T>CCA468240645OPTNc.1161T>C (p.Thr387=)
c.1143T>C (p.Thr381=)
c.990T>C (p.Thr330=)
 gnomAD v4
10g.13125958T>GCA468240646OPTNc.1161T>G (p.Thr387=)
c.1143T>G (p.Thr381=)
c.990T>G (p.Thr330=)
10g.13125960_13125961delCA2608268419OPTNc.1163_1164del (p.Val388AlafsTer13)
c.1145_1146del (p.Val382AlafsTer13)
c.992_993del (p.Val331AlafsTer13)
 gnomAD v4
10g.13125959G>ACA376029580OPTNc.1162G>A (p.Val388Met)
c.1144G>A (p.Val382Met)
c.991G>A (p.Val331Met)
10g.13125959G>CCA376029581OPTNc.1162G>C (p.Val388Leu)
c.1144G>C (p.Val382Leu)
c.991G>C (p.Val331Leu)
10g.13125959G>TCA376029582OPTNc.1162G>T (p.Val388Leu)
c.1144G>T (p.Val382Leu)
c.991G>T (p.Val331Leu)
10g.13125960T>ACA376029583OPTNc.1163T>A (p.Val388Glu)
c.1145T>A (p.Val382Glu)
c.992T>A (p.Val331Glu)
10g.13125960T>CCA376029584OPTNc.1163T>C (p.Val388Ala)
c.1145T>C (p.Val382Ala)
c.992T>C (p.Val331Ala)
10g.13125960T>GCA376029585OPTNc.1163T>G (p.Val388Gly)
c.1145T>G (p.Val382Gly)
c.992T>G (p.Val331Gly)
10g.13125961G>ACA468240649OPTNc.1164G>A (p.Val388=)
c.1146G>A (p.Val382=)
c.993G>A (p.Val331=)
10g.13125961G>CCA468240647OPTNc.1164G>C (p.Val388=)
c.1146G>C (p.Val382=)
c.993G>C (p.Val331=)
10g.13125961G>TCA468240648OPTNc.1164G>T (p.Val388=)
c.1146G>T (p.Val382=)
c.993G>T (p.Val331=)
10g.13125962C>ACA376029587OPTNc.1165C>A (p.Leu389Ile)
c.1147C>A (p.Leu383Ile)
c.994C>A (p.Leu332Ile)
 gnomAD v4
10g.13125962C=CA1891470783OPTNc.1165C= (p.Leu389=)
c.1147C= (p.Leu383=)
c.994C= (p.Leu332=)
10g.13125962C>GCA376029586OPTNc.1165C>G (p.Leu389Val)
c.1147C>G (p.Leu383Val)
c.994C>G (p.Leu332Val)
10g.13125962C>TCA468240650OPTNc.1165C>T (p.Leu389=)
c.1147C>T (p.Leu383=)
c.994C>T (p.Leu332=)
 dbSNP gnomAD v4
10g.13125963T>ACA376029588OPTNc.1166T>A (p.Leu389Gln)
c.1148T>A (p.Leu383Gln)
c.995T>A (p.Leu332Gln)
10g.13125963T>CCA376029589OPTNc.1166T>C (p.Leu389Pro)
c.1148T>C (p.Leu383Pro)
c.995T>C (p.Leu332Pro)
10g.13125963T>GCA376029590OPTNc.1166T>G (p.Leu389Arg)
c.1148T>G (p.Leu383Arg)
c.995T>G (p.Leu332Arg)
 gnomAD v4
10g.13125964A>CCA468240651OPTNc.1167A>C (p.Leu389=)
c.1149A>C (p.Leu383=)
c.996A>C (p.Leu332=)
10g.13125964A>GCA468240652OPTNc.1167A>G (p.Leu389=)
c.1149A>G (p.Leu383=)
c.996A>G (p.Leu332=)
10g.13125964A>TCA468240653OPTNc.1167A>T (p.Leu389=)
c.1149A>T (p.Leu383=)
c.996A>T (p.Leu332=)
10g.13125965C>ACA376029591OPTNc.1168C>A (p.Gln390Lys)
c.1150C>A (p.Gln384Lys)
c.997C>A (p.Gln333Lys)
10g.13125965C>GCA376029592OPTNc.1168C>G (p.Gln390Glu)
c.1150C>G (p.Gln384Glu)
c.997C>G (p.Gln333Glu)
10g.13125965C>TCA376029593OPTNc.1168C>T (p.Gln390Ter)
c.1150C>T (p.Gln384Ter)
c.997C>T (p.Gln333Ter)
10g.13125966A>CCA376029594OPTNc.1169A>C (p.Gln390Pro)
c.1151A>C (p.Gln384Pro)
c.998A>C (p.Gln333Pro)
10g.13125966A>GCA376029595OPTNc.1169A>G (p.Gln390Arg)
c.1151A>G (p.Gln384Arg)
c.998A>G (p.Gln333Arg)
 gnomAD v4
10g.13125966A>TCA376029596OPTNc.1169A>T (p.Gln390Leu)
c.1151A>T (p.Gln384Leu)
c.998A>T (p.Gln333Leu)
10g.13125967G>ACA5410894OPTNc.1170G>A (p.Gln390=)
c.1152G>A (p.Gln384=)
c.999G>A (p.Gln333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13125967G>CCA376029597OPTNc.1170G>C (p.Gln390His)
c.1152G>C (p.Gln384His)
c.999G>C (p.Gln333His)
10g.13125967G=CA1891470787OPTNc.1170G= (p.Gln390=)
c.1152G= (p.Gln384=)
c.999G= (p.Gln333=)
10g.13125967G>TCA376029598OPTNc.1170G>T (p.Gln390His)
c.1152G>T (p.Gln384His)
c.999G>T (p.Gln333His)
10g.13125968A>CCA376029600OPTNc.1171A>C (p.Met391Leu)
c.1153A>C (p.Met385Leu)
c.1000A>C (p.Met334Leu)
10g.13125968A>GCA376029601OPTNc.1171A>G (p.Met391Val)
c.1153A>G (p.Met385Val)
c.1000A>G (p.Met334Val)
10g.13125968A>TCA376029599OPTNc.1171A>T (p.Met391Leu)
c.1153A>T (p.Met385Leu)
c.1000A>T (p.Met334Leu)
10g.13125969T>ACA376029602OPTNc.1172T>A (p.Met391Lys)
c.1154T>A (p.Met385Lys)
c.1001T>A (p.Met334Lys)
10g.13125969T>CCA376029603OPTNc.1172T>C (p.Met391Thr)
c.1154T>C (p.Met385Thr)
c.1001T>C (p.Met334Thr)
 dbSNP gnomAD v4
10g.13125969T>GCA376029604OPTNc.1172T>G (p.Met391Arg)
c.1154T>G (p.Met385Arg)
c.1001T>G (p.Met334Arg)
10g.13125969T=CA1891470791OPTNc.1172T= (p.Met391=)
c.1154T= (p.Met385=)
c.1001T= (p.Met334=)
10g.13125970G>ACA376029605OPTNc.1173G>A (p.Met391Ile)
c.1155G>A (p.Met385Ile)
c.1002G>A (p.Met334Ile)
10g.13125970G>CCA376029606OPTNc.1173G>C (p.Met391Ile)
c.1155G>C (p.Met385Ile)
c.1002G>C (p.Met334Ile)
10g.13125970G>TCA376029607OPTNc.1173G>T (p.Met391Ile)
c.1155G>T (p.Met385Ile)
c.1002G>T (p.Met334Ile)
10g.13125971A=CA1891470793OPTNc.1174A= (p.Thr392=)
c.1156A= (p.Thr386=)
c.1003A= (p.Thr335=)
10g.13125971A>CCA376029608OPTNc.1174A>C (p.Thr392Pro)
c.1156A>C (p.Thr386Pro)
c.1003A>C (p.Thr335Pro)
10g.13125971A>GCA5410895OPTNc.1174A>G (p.Thr392Ala)
c.1156A>G (p.Thr386Ala)
c.1003A>G (p.Thr335Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.13125971A>TCA376029609OPTNc.1174A>T (p.Thr392Ser)
c.1156A>T (p.Thr386Ser)
c.1003A>T (p.Thr335Ser)
10g.13125972C>ACA376029610OPTNc.1175C>A (p.Thr392Lys)
c.1157C>A (p.Thr386Lys)
c.1004C>A (p.Thr335Lys)
10g.13125972C>GCA376029611OPTNc.1175C>G (p.Thr392Arg)
c.1157C>G (p.Thr386Arg)
c.1004C>G (p.Thr335Arg)
10g.13125972C>TCA376029612OPTNc.1175C>T (p.Thr392Ile)
c.1157C>T (p.Thr386Ile)
c.1004C>T (p.Thr335Ile)
10g.13125973A>CCA468240654OPTNc.1176A>C (p.Thr392=)
c.1158A>C (p.Thr386=)
c.1005A>C (p.Thr335=)
10g.13125973A>GCA468240655OPTNc.1176A>G (p.Thr392=)
c.1158A>G (p.Thr386=)
c.1005A>G (p.Thr335=)
10g.13125973A>TCA468240656OPTNc.1176A>T (p.Thr392=)
c.1158A>T (p.Thr386=)
c.1005A>T (p.Thr335=)
10g.13125974C>ACA376029614OPTNc.1177C>A (p.His393Asn)
c.1159C>A (p.His387Asn)
c.1006C>A (p.His336Asn)
10g.13125974C>GCA376029615OPTNc.1177C>G (p.His393Asp)
c.1159C>G (p.His387Asp)
c.1006C>G (p.His336Asp)
10g.13125974C>TCA376029613OPTNc.1177C>T (p.His393Tyr)
c.1159C>T (p.His387Tyr)
c.1006C>T (p.His336Tyr)
10g.13125974_13125977delinsCACACA1891470798OPTNc.1177_1180delinsCACA (p.His393=)
c.1159_1162delinsCACA (p.His387=)
c.1006_1009delinsCACA (p.His336=)
10g.13125975A>CCA376029616OPTNc.1178A>C (p.His393Pro)
c.1160A>C (p.His387Pro)
c.1007A>C (p.His336Pro)
10g.13125975A>GCA376029617OPTNc.1178A>G (p.His393Arg)
c.1160A>G (p.His387Arg)
c.1007A>G (p.His336Arg)
10g.13125975A>TCA376029618OPTNc.1178A>T (p.His393Leu)
c.1160A>T (p.His387Leu)
c.1007A>T (p.His336Leu)
 gnomAD v4
10g.13125979_13125981delCA661737387OPTNc.1182_1184del (p.Asn394del)
c.1164_1166del (p.Asn388del)
c.1011_1013del (p.Asn337del)
 dbSNP
10g.13125976C>ACA376029619OPTNc.1179C>A (p.His393Gln)
c.1161C>A (p.His387Gln)
c.1008C>A (p.His336Gln)
 dbSNP gnomAD v3 gnomAD v4
10g.13125976C=CA1891470806OPTNc.1179C= (p.His393=)
c.1161C= (p.His387=)
c.1008C= (p.His336=)
10g.13125976C>GCA376029620OPTNc.1179C>G (p.His393Gln)
c.1161C>G (p.His387Gln)
c.1008C>G (p.His336Gln)
10g.13125976C>TCA203267959OPTNc.1179C>T (p.His393=)
c.1161C>T (p.His387=)
c.1008C>T (p.His336=)
 ClinVar dbSNP
10g.13125977A>CCA376029623OPTNc.1180A>C (p.Asn394His)
c.1162A>C (p.Asn388His)
c.1009A>C (p.Asn337His)
10g.13125977A>GCA376029621OPTNc.1180A>G (p.Asn394Asp)
c.1162A>G (p.Asn388Asp)
c.1009A>G (p.Asn337Asp)
10g.13125977A>TCA376029622OPTNc.1180A>T (p.Asn394Tyr)
c.1162A>T (p.Asn388Tyr)
c.1009A>T (p.Asn337Tyr)
10g.13125978A>CCA376029624OPTNc.1181A>C (p.Asn394Thr)
c.1163A>C (p.Asn388Thr)
c.1010A>C (p.Asn337Thr)
10g.13125978A>GCA376029625OPTNc.1181A>G (p.Asn394Ser)
c.1163A>G (p.Asn388Ser)
c.1010A>G (p.Asn337Ser)
10g.13125978A>TCA376029626OPTNc.1181A>T (p.Asn394Ile)
c.1163A>T (p.Asn388Ile)
c.1010A>T (p.Asn337Ile)
10g.13125979C>ACA376029627OPTNc.1182C>A (p.Asn394Lys)
c.1164C>A (p.Asn388Lys)
c.1011C>A (p.Asn337Lys)
 dbSNP
10g.13125979C=CA1891470821OPTNc.1182C= (p.Asn394=)
c.1164C= (p.Asn388=)
c.1011C= (p.Asn337=)
10g.13125979C>GCA376029628OPTNc.1182C>G (p.Asn394Lys)
c.1164C>G (p.Asn388Lys)
c.1011C>G (p.Asn337Lys)
10g.13125979C>TCA468240658OPTNc.1182C>T (p.Asn394=)
c.1164C>T (p.Asn388=)
c.1011C>T (p.Asn337=)
10g.13125980A>CCA376029631OPTNc.1183A>C (p.Lys395Gln)
c.1165A>C (p.Lys389Gln)
c.1012A>C (p.Lys338Gln)
10g.13125980A>GCA376029630OPTNc.1183A>G (p.Lys395Glu)
c.1165A>G (p.Lys389Glu)
c.1012A>G (p.Lys338Glu)
10g.13125980A>TCA376029629OPTNc.1183A>T (p.Lys395Ter)
c.1165A>T (p.Lys389Ter)
c.1012A>T (p.Lys338Ter)
10g.13125981A>CCA376029632OPTNc.1184A>C (p.Lys395Thr)
c.1166A>C (p.Lys389Thr)
c.1013A>C (p.Lys338Thr)
10g.13125981A>GCA376029633OPTNc.1184A>G (p.Lys395Arg)
c.1166A>G (p.Lys389Arg)
c.1013A>G (p.Lys338Arg)
 gnomAD v4
10g.13125981A>TCA376029634OPTNc.1184A>T (p.Lys395Met)
c.1166A>T (p.Lys389Met)
c.1013A>T (p.Lys338Met)
10g.13125982G>ACA468240659OPTNc.1185G>A (p.Lys395=)
c.1167G>A (p.Lys389=)
c.1014G>A (p.Lys338=)
 dbSNP gnomAD v4
10g.13125982G>CCA376029635OPTNc.1185G>C (p.Lys395Asn)
c.1167G>C (p.Lys389Asn)
c.1014G>C (p.Lys338Asn)
10g.13125982G=CA1891470826OPTNc.1185G= (p.Lys395=)
c.1167G= (p.Lys389=)
c.1014G= (p.Lys338=)
10g.13125982G>TCA376029636OPTNc.1185G>T (p.Lys395Asn)
c.1167G>T (p.Lys389Asn)
c.1014G>T (p.Lys338Asn)
10g.13125983C>ACA376029637OPTNc.1186C>A (p.Leu396Ile)
c.1168C>A (p.Leu390Ile)
c.1015C>A (p.Leu339Ile)
10g.13125983C>GCA376029638OPTNc.1186C>G (p.Leu396Val)
c.1168C>G (p.Leu390Val)
c.1015C>G (p.Leu339Val)
10g.13125983C>TCA376029639OPTNc.1186C>T (p.Leu396Phe)
c.1168C>T (p.Leu390Phe)
c.1015C>T (p.Leu339Phe)
10g.13125984T>ACA376029640OPTNc.1187T>A (p.Leu396His)
c.1169T>A (p.Leu390His)
c.1016T>A (p.Leu339His)
10g.13125984T>CCA376029641OPTNc.1187T>C (p.Leu396Pro)
c.1169T>C (p.Leu390Pro)
c.1016T>C (p.Leu339Pro)
 gnomAD v4
10g.13125984T>GCA376029642OPTNc.1187T>G (p.Leu396Arg)
c.1169T>G (p.Leu390Arg)
c.1016T>G (p.Leu339Arg)
10g.13125985T>ACA468240660OPTNc.1188T>A (p.Leu396=)
c.1170T>A (p.Leu390=)
c.1017T>A (p.Leu339=)
10g.13125985T>CCA468240661OPTNc.1188T>C (p.Leu396=)
c.1170T>C (p.Leu390=)
c.1017T>C (p.Leu339=)
10g.13125985T>GCA468240662OPTNc.1188T>G (p.Leu396=)
c.1170T>G (p.Leu390=)
c.1017T>G (p.Leu339=)
10g.13125986C>ACA376029643OPTNc.1189C>A (p.Leu397Ile)
c.1171C>A (p.Leu391Ile)
c.1018C>A (p.Leu340Ile)
10g.13125986C>GCA376029644OPTNc.1189C>G (p.Leu397Val)
c.1171C>G (p.Leu391Val)
c.1018C>G (p.Leu340Val)
10g.13125986C>TCA376029645OPTNc.1189C>T (p.Leu397Phe)
c.1171C>T (p.Leu391Phe)
c.1018C>T (p.Leu340Phe)
 gnomAD v4
10g.13125987T>ACA376029648OPTNc.1190T>A (p.Leu397His)
c.1172T>A (p.Leu391His)
c.1019T>A (p.Leu340His)
10g.13125987T>CCA376029647OPTNc.1190T>C (p.Leu397Pro)
c.1172T>C (p.Leu391Pro)
c.1019T>C (p.Leu340Pro)
10g.13125987T>GCA376029646OPTNc.1190T>G (p.Leu397Arg)
c.1172T>G (p.Leu391Arg)
c.1019T>G (p.Leu340Arg)
10g.13125988T>ACA468240663OPTNc.1191T>A (p.Leu397=)
c.1173T>A (p.Leu391=)
c.1020T>A (p.Leu340=)
10g.13125988T>CCA468240665OPTNc.1191T>C (p.Leu397=)
c.1173T>C (p.Leu391=)
c.1020T>C (p.Leu340=)
10g.13125988T>GCA468240664OPTNc.1191T>G (p.Leu397=)
c.1173T>G (p.Leu391=)
c.1020T>G (p.Leu340=)
10g.13125989C>ACA376029649OPTNc.1192C>A (p.Gln398Lys)
c.1174C>A (p.Gln392Lys)
c.1021C>A (p.Gln341Lys)
10g.13125989C=CA1891470835OPTNc.1192C= (p.Gln398=)
c.1174C= (p.Gln392=)
c.1021C= (p.Gln341=)
10g.13125989C>GCA5410896OPTNc.1192C>G (p.Gln398Glu)
c.1174C>G (p.Gln392Glu)
c.1021C>G (p.Gln341Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13125989C>TCA254103OPTNc.1192C>T (p.Gln398Ter)
c.1174C>T (p.Gln392Ter)
c.1021C>T (p.Gln341Ter)
 ClinVar dbSNP
10g.13125990A>CCA376029650OPTNc.1193A>C (p.Gln398Pro)
c.1175A>C (p.Gln392Pro)
c.1022A>C (p.Gln341Pro)
 COSMIC
10g.13125990A>GCA376029651OPTNc.1193A>G (p.Gln398Arg)
c.1175A>G (p.Gln392Arg)
c.1022A>G (p.Gln341Arg)
10g.13125990A>TCA376029652OPTNc.1193A>T (p.Gln398Leu)
c.1175A>T (p.Gln392Leu)
c.1022A>T (p.Gln341Leu)
10g.13125991A>CCA376029653OPTNc.1194A>C (p.Gln398His)
c.1176A>C (p.Gln392His)
c.1023A>C (p.Gln341His)
10g.13125991A>GCA468240666OPTNc.1194A>G (p.Gln398=)
c.1176A>G (p.Gln392=)
c.1023A>G (p.Gln341=)
 gnomAD v4
10g.13125991A>TCA376029654OPTNc.1194A>T (p.Gln398His)
c.1176A>T (p.Gln392His)
c.1023A>T (p.Gln341His)
10g.13125992G>ACA376029655OPTNc.1195G>A (p.Glu399Lys)
c.1177G>A (p.Glu393Lys)
c.1024G>A (p.Glu342Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.13125992G>CCA376029656OPTNc.1195G>C (p.Glu399Gln)
c.1177G>C (p.Glu393Gln)
c.1024G>C (p.Glu342Gln)
10g.13125992G=CA1891470844OPTNc.1195G= (p.Glu399=)
c.1177G= (p.Glu393=)
c.1024G= (p.Glu342=)
10g.13125992G>TCA376029657OPTNc.1195G>T (p.Glu399Ter)
c.1177G>T (p.Glu393Ter)
c.1024G>T (p.Glu342Ter)
 ClinVar
10g.13125993A>CCA376029658OPTNc.1196A>C (p.Glu399Ala)
c.1178A>C (p.Glu393Ala)
c.1025A>C (p.Glu342Ala)
10g.13125993A>GCA376029659OPTNc.1196A>G (p.Glu399Gly)
c.1178A>G (p.Glu393Gly)
c.1025A>G (p.Glu342Gly)
10g.13125993A>TCA376029660OPTNc.1196A>T (p.Glu399Val)
c.1178A>T (p.Glu393Val)
c.1025A>T (p.Glu342Val)
10g.13125994A=CA1891470861OPTNc.1197A= (p.Glu399=)
c.1179A= (p.Glu393=)
c.1026A= (p.Glu342=)
10g.13125994A>CCA376029662OPTNc.1197A>C (p.Glu399Asp)
c.1179A>C (p.Glu393Asp)
c.1026A>C (p.Glu342Asp)
10g.13125994A>GCA5410897OPTNc.1197A>G (p.Glu399=)
c.1179A>G (p.Glu393=)
c.1026A>G (p.Glu342=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13125994A>TCA376029661OPTNc.1197A>T (p.Glu399Asp)
c.1179A>T (p.Glu393Asp)
c.1026A>T (p.Glu342Asp)
10g.13125994_13125995delinsGTCA2580081341OPTNc.1197_1198delinsGT (p.His400Tyr)
c.1179_1180delinsGT (p.His394Tyr)
c.1026_1027delinsGT (p.His343Tyr)
 ClinVar
10g.13125995C>ACA376029663OPTNc.1198C>A (p.His400Asn)
c.1180C>A (p.His394Asn)
c.1027C>A (p.His343Asn)
10g.13125995C=CA1891470866OPTNc.1198C= (p.His400=)
c.1180C= (p.His394=)
c.1027C= (p.His343=)
10g.13125995C>GCA376029664OPTNc.1198C>G (p.His400Asp)
c.1180C>G (p.His394Asp)
c.1027C>G (p.His343Asp)
10g.13125995C>TCA5410898OPTNc.1198C>T (p.His400Tyr)
c.1180C>T (p.His394Tyr)
c.1027C>T (p.His343Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13125996A>CCA376029665OPTNc.1199A>C (p.His400Pro)
c.1181A>C (p.His394Pro)
c.1028A>C (p.His343Pro)
10g.13125996A>GCA376029666OPTNc.1199A>G (p.His400Arg)
c.1181A>G (p.His394Arg)
c.1028A>G (p.His343Arg)
 gnomAD v4
10g.13125996A>TCA376029667OPTNc.1199A>T (p.His400Leu)
c.1181A>T (p.His394Leu)
c.1028A>T (p.His343Leu)
10g.13125997T>ACA376029668OPTNc.1200T>A (p.His400Gln)
c.1182T>A (p.His394Gln)
c.1029T>A (p.His343Gln)
10g.13125997T>CCA468240667OPTNc.1200T>C (p.His400=)
c.1182T>C (p.His394=)
c.1029T>C (p.His343=)
10g.13125997T>GCA376029669OPTNc.1200T>G (p.His400Gln)
c.1182T>G (p.His394Gln)
c.1029T>G (p.His343Gln)
10g.13125998A=CA1891470871OPTNc.1201A= (p.Asn401=)
c.1183A= (p.Asn395=)
c.1030A= (p.Asn344=)
10g.13125998A>CCA376029670OPTNc.1201A>C (p.Asn401His)
c.1183A>C (p.Asn395His)
c.1030A>C (p.Asn344His)
10g.13125998A>GCA376029671OPTNc.1201A>G (p.Asn401Asp)
c.1183A>G (p.Asn395Asp)
c.1030A>G (p.Asn344Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.13125998A>TCA376029672OPTNc.1201A>T (p.Asn401Tyr)
c.1183A>T (p.Asn395Tyr)
c.1030A>T (p.Asn344Tyr)
10g.13125998_13126005delinsAATAATGCCA1891470873OPTNc.1201_1208delinsAATAATGC (p.Asn401=)
c.1183_1190delinsAATAATGC (p.Asn395=)
c.1030_1037delinsAATAATGC (p.Asn344=)
10g.13125999A>CCA376029674OPTNc.1202A>C (p.Asn401Thr)
c.1184A>C (p.Asn395Thr)
c.1031A>C (p.Asn344Thr)
10g.13125999A>GCA376029675OPTNc.1202A>G (p.Asn401Ser)
c.1184A>G (p.Asn395Ser)
c.1031A>G (p.Asn344Ser)
 gnomAD v4
10g.13125999A>TCA376029673OPTNc.1202A>T (p.Asn401Ile)
c.1184A>T (p.Asn395Ile)
c.1031A>T (p.Asn344Ile)
10g.13126001_13126007delCA5410899OPTNc.1204_1210del (p.Asn402Ter)
c.1186_1192del (p.Asn396Ter)
c.1033_1039del (p.Asn345Ter)
 ClinVar dbSNP ExAC gnomAD v2
10g.13126000T>ACA376029676OPTNc.1203T>A (p.Asn401Lys)
c.1185T>A (p.Asn395Lys)
c.1032T>A (p.Asn344Lys)
10g.13126000T>CCA468240668OPTNc.1203T>C (p.Asn401=)
c.1185T>C (p.Asn395=)
c.1032T>C (p.Asn344=)
10g.13126000T>GCA376029677OPTNc.1203T>G (p.Asn401Lys)
c.1185T>G (p.Asn395Lys)
c.1032T>G (p.Asn344Lys)
 dbSNP
10g.13126000T=CA1891470878OPTNc.1203T= (p.Asn401=)
c.1185T= (p.Asn395=)
c.1032T= (p.Asn344=)
10g.13126001A>CCA376029678OPTNc.1204A>C (p.Asn402His)
c.1186A>C (p.Asn396His)
c.1033A>C (p.Asn345His)
10g.13126001A>GCA376029679OPTNc.1204A>G (p.Asn402Asp)
c.1186A>G (p.Asn396Asp)
c.1033A>G (p.Asn345Asp)
10g.13126001A>TCA376029680OPTNc.1204A>T (p.Asn402Tyr)
c.1186A>T (p.Asn396Tyr)
c.1033A>T (p.Asn345Tyr)
10g.13126002A>CCA376029683OPTNc.1205A>C (p.Asn402Thr)
c.1187A>C (p.Asn396Thr)
c.1034A>C (p.Asn345Thr)
 COSMIC
10g.13126002A>GCA376029681OPTNc.1205A>G (p.Asn402Ser)
c.1187A>G (p.Asn396Ser)
c.1034A>G (p.Asn345Ser)
10g.13126002A>TCA376029682OPTNc.1205A>T (p.Asn402Ile)
c.1187A>T (p.Asn396Ile)
c.1034A>T (p.Asn345Ile)
10g.13126003T>ACA376029684OPTNc.1206T>A (p.Asn402Lys)
c.1188T>A (p.Asn396Lys)
c.1035T>A (p.Asn345Lys)
 gnomAD v4
10g.13126003T>CCA468240669OPTNc.1206T>C (p.Asn402=)
c.1188T>C (p.Asn396=)
c.1035T>C (p.Asn345=)
10g.13126003T>GCA376029685OPTNc.1206T>G (p.Asn402Lys)
c.1188T>G (p.Asn396Lys)
c.1035T>G (p.Asn345Lys)
10g.13126004G>ACA376029686OPTNc.1207G>A (p.Ala403Thr)
c.1189G>A (p.Ala397Thr)
c.1036G>A (p.Ala346Thr)
10g.13126004G>CCA376029687OPTNc.1207G>C (p.Ala403Pro)
c.1189G>C (p.Ala397Pro)
c.1036G>C (p.Ala346Pro)
10g.13126004G>TCA376029688OPTNc.1207G>T (p.Ala403Ser)
c.1189G>T (p.Ala397Ser)
c.1036G>T (p.Ala346Ser)
 COSMIC
10g.13126005C>ACA376029689OPTNc.1208C>A (p.Ala403Glu)
c.1190C>A (p.Ala397Glu)
c.1037C>A (p.Ala346Glu)
10g.13126005C>GCA376029691OPTNc.1208C>G (p.Ala403Gly)
c.1190C>G (p.Ala397Gly)
c.1037C>G (p.Ala346Gly)
10g.13126005C>TCA376029690OPTNc.1208C>T (p.Ala403Val)
c.1190C>T (p.Ala397Val)
c.1037C>T (p.Ala346Val)
 gnomAD v4
10g.13126006A=CA1891470882OPTNc.1209A= (p.Ala403=)
c.1191A= (p.Ala397=)
c.1038A= (p.Ala346=)
10g.13126006A>CCA468240670OPTNc.1209A>C (p.Ala403=)
c.1191A>C (p.Ala397=)
c.1038A>C (p.Ala346=)
 dbSNP gnomAD v3 gnomAD v4
10g.13126006A>GCA468240671OPTNc.1209A>G (p.Ala403=)
c.1191A>G (p.Ala397=)
c.1038A>G (p.Ala346=)
 gnomAD v4
10g.13126006A>TCA468240672OPTNc.1209A>T (p.Ala403=)
c.1191A>T (p.Ala397=)
c.1038A>T (p.Ala346=)
10g.13126007T>ACA376029692OPTNc.1210T>A (p.Leu404Met)
c.1192T>A (p.Leu398Met)
c.1039T>A (p.Leu347Met)
10g.13126007T>CCA5410900OPTNc.1210T>C (p.Leu404=)
c.1192T>C (p.Leu398=)
c.1039T>C (p.Leu347=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13126007T>GCA376029693OPTNc.1210T>G (p.Leu404Val)
c.1192T>G (p.Leu398Val)
c.1039T>G (p.Leu347Val)
10g.13126007T=CA1891470886OPTNc.1210T= (p.Leu404=)
c.1192T= (p.Leu398=)
c.1039T= (p.Leu347=)
10g.13126008T>ACA376029694OPTNc.1211T>A (p.Leu404Ter)
c.1193T>A (p.Leu398Ter)
c.1040T>A (p.Leu347Ter)
 dbSNP
10g.13126008T>CCA376029695OPTNc.1211T>C (p.Leu404Ser)
c.1193T>C (p.Leu398Ser)
c.1040T>C (p.Leu347Ser)
10g.13126008T>GCA376029696OPTNc.1211T>G (p.Leu404Trp)
c.1193T>G (p.Leu398Trp)
c.1040T>G (p.Leu347Trp)
10g.13126008T=CA1891470893OPTNc.1211T= (p.Leu404=)
c.1193T= (p.Leu398=)
c.1040T= (p.Leu347=)
10g.13126009G>ACA468240673OPTNc.1212G>A (p.Leu404=)
c.1194G>A (p.Leu398=)
c.1041G>A (p.Leu347=)
 ClinVar
10g.13126009G>CCA376029697OPTNc.1212G>C (p.Leu404Phe)
c.1194G>C (p.Leu398Phe)
c.1041G>C (p.Leu347Phe)
10g.13126009G=CA1891470895OPTNc.1212G= (p.Leu404=)
c.1194G= (p.Leu398=)
c.1041G= (p.Leu347=)
10g.13126009G>TCA376029698OPTNc.1212G>T (p.Leu404Phe)
c.1194G>T (p.Leu398Phe)
c.1041G>T (p.Leu347Phe)
 dbSNP
10g.13126010A=CA1891470899OPTNc.1213A= (p.Lys405=)
c.1195A= (p.Lys399=)
c.1042A= (p.Lys348=)
10g.13126010A>CCA376029699OPTNc.1213A>C (p.Lys405Gln)
c.1195A>C (p.Lys399Gln)
c.1042A>C (p.Lys348Gln)
10g.13126010A>GCA376029700OPTNc.1213A>G (p.Lys405Glu)
c.1195A>G (p.Lys399Glu)
c.1042A>G (p.Lys348Glu)
 dbSNP
10g.13126010A>TCA376029701OPTNc.1213A>T (p.Lys405Ter)
c.1195A>T (p.Lys399Ter)
c.1042A>T (p.Lys348Ter)
10g.13126011A>CCA376029702OPTNc.1214A>C (p.Lys405Thr)
c.1196A>C (p.Lys399Thr)
c.1043A>C (p.Lys348Thr)
10g.13126011A>GCA376029703OPTNc.1214A>G (p.Lys405Arg)
c.1196A>G (p.Lys399Arg)
c.1043A>G (p.Lys348Arg)
 gnomAD v4
10g.13126011A>TCA376029704OPTNc.1214A>T (p.Lys405Ile)
c.1196A>T (p.Lys399Ile)
c.1043A>T (p.Lys348Ile)
10g.13126012A>CCA376029705OPTNc.1215A>C (p.Lys405Asn)
c.1197A>C (p.Lys399Asn)
c.1044A>C (p.Lys348Asn)
10g.13126012A>GCA468240674OPTNc.1215A>G (p.Lys405=)
c.1197A>G (p.Lys399=)
c.1044A>G (p.Lys348=)
10g.13126012A>TCA376029706OPTNc.1215A>T (p.Lys405Asn)
c.1197A>T (p.Lys399Asn)
c.1044A>T (p.Lys348Asn)
10g.13126013A>CCA376029707OPTNc.1216A>C (p.Thr406Pro)
c.1198A>C (p.Thr400Pro)
c.1045A>C (p.Thr349Pro)
10g.13126013A>GCA376029709OPTNc.1216A>G (p.Thr406Ala)
c.1198A>G (p.Thr400Ala)
c.1045A>G (p.Thr349Ala)
10g.13126013A>TCA376029708OPTNc.1216A>T (p.Thr406Ser)
c.1198A>T (p.Thr400Ser)
c.1045A>T (p.Thr349Ser)
10g.13126013_13126014delinsACCA1891470903OPTNc.1216_1217delinsAC (p.Thr406=)
c.1198_1199delinsAC (p.Thr400=)
c.1045_1046delinsAC (p.Thr349=)
10g.13126014delCA1139661387OPTNc.1217del (p.Thr406LysfsTer5)
c.1199del (p.Thr400LysfsTer5)
c.1046del (p.Thr349LysfsTer5)
 ClinVar dbSNP
10g.13126014C>ACA376029710OPTNc.1217C>A (p.Thr406Lys)
c.1199C>A (p.Thr400Lys)
c.1046C>A (p.Thr349Lys)
10g.13126014C=CA1891470912OPTNc.1217C= (p.Thr406=)
c.1199C= (p.Thr400=)
c.1046C= (p.Thr349=)
10g.13126014C>GCA376029711OPTNc.1217C>G (p.Thr406Arg)
c.1199C>G (p.Thr400Arg)
c.1046C>G (p.Thr349Arg)
 gnomAD v4
10g.13126014C>TCA5410901OPTNc.1217C>T (p.Thr406Ile)
c.1199C>T (p.Thr400Ile)
c.1046C>T (p.Thr349Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13126015A=CA1891470919OPTNc.1218A= (p.Thr406=)
c.1200A= (p.Thr400=)
c.1047A= (p.Thr349=)
10g.13126015A>CCA468240675OPTNc.1218A>C (p.Thr406=)
c.1200A>C (p.Thr400=)
c.1047A>C (p.Thr349=)
10g.13126015A>GCA468240676OPTNc.1218A>G (p.Thr406=)
c.1200A>G (p.Thr400=)
c.1047A>G (p.Thr349=)
10g.13126015A>TCA5410902OPTNc.1218A>T (p.Thr406=)
c.1200A>T (p.Thr400=)
c.1047A>T (p.Thr349=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13126016A>CCA376029712OPTNc.1219A>C (p.Ile407Leu)
c.1201A>C (p.Ile401Leu)
c.1048A>C (p.Ile350Leu)
 gnomAD v4
10g.13126016A>GCA376029713OPTNc.1219A>G (p.Ile407Val)
c.1201A>G (p.Ile401Val)
c.1048A>G (p.Ile350Val)
10g.13126016A>TCA376029714OPTNc.1219A>T (p.Ile407Phe)
c.1201A>T (p.Ile401Phe)
c.1048A>T (p.Ile350Phe)
10g.13126017T>ACA376029715OPTNc.1220T>A (p.Ile407Asn)
c.1202T>A (p.Ile401Asn)
c.1049T>A (p.Ile350Asn)
10g.13126017T>CCA5410903OPTNc.1220T>C (p.Ile407Thr)
c.1202T>C (p.Ile401Thr)
c.1049T>C (p.Ile350Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13126017T>GCA376029716OPTNc.1220T>G (p.Ile407Ser)
c.1202T>G (p.Ile401Ser)
c.1049T>G (p.Ile350Ser)
10g.13126017T=CA1891470924OPTNc.1220T= (p.Ile407=)
c.1202T= (p.Ile401=)
c.1049T= (p.Ile350=)
10g.13126018T>ACA5410904OPTNc.1221T>A (p.Ile407=)
c.1203T>A (p.Ile401=)
c.1050T>A (p.Ile350=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13126018T>CCA468240678OPTNc.1221T>C (p.Ile407=)
c.1203T>C (p.Ile401=)
c.1050T>C (p.Ile350=)
 dbSNP
10g.13126018T>GCA376029717OPTNc.1221T>G (p.Ile407Met)
c.1203T>G (p.Ile401Met)
c.1050T>G (p.Ile350Met)
 dbSNP
10g.13126018T=CA1891470925OPTNc.1221T= (p.Ile407=)
c.1203T= (p.Ile401=)
c.1050T= (p.Ile350=)
10g.13126019G>ACA376029718OPTNc.1222G>A (p.Glu408Lys)
c.1204G>A (p.Glu402Lys)
c.1051G>A (p.Glu351Lys)
10g.13126019G>CCA376029719OPTNc.1222G>C (p.Glu408Gln)
c.1204G>C (p.Glu402Gln)
c.1051G>C (p.Glu351Gln)
10g.13126019G>TCA376029720OPTNc.1222G>T (p.Glu408Ter)
c.1204G>T (p.Glu402Ter)
c.1051G>T (p.Glu351Ter)
10g.13126020A=CA1891470929OPTNc.1223A= (p.Glu408=)
c.1205A= (p.Glu402=)
c.1052A= (p.Glu351=)
10g.13126020A>CCA376029721OPTNc.1223A>C (p.Glu408Ala)
c.1205A>C (p.Glu402Ala)
c.1052A>C (p.Glu351Ala)
10g.13126020A>GCA376029722OPTNc.1223A>G (p.Glu408Gly)
c.1205A>G (p.Glu402Gly)
c.1052A>G (p.Glu351Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.13126020A>TCA376029723OPTNc.1223A>T (p.Glu408Val)
c.1205A>T (p.Glu402Val)
c.1052A>T (p.Glu351Val)
10g.13126021G>ACA468240679OPTNc.1224G>A (p.Glu408=)
c.1206G>A (p.Glu402=)
c.1053G>A (p.Glu351=)
10g.13126021G>CCA376029724OPTNc.1224G>C (p.Glu408Asp)
c.1206G>C (p.Glu402Asp)
c.1053G>C (p.Glu351Asp)
 dbSNP
10g.13126021G=CA1891470930OPTNc.1224G= (p.Glu408=)
c.1206G= (p.Glu402=)
c.1053G= (p.Glu351=)
10g.13126021G>TCA376029725OPTNc.1224G>T (p.Glu408Asp)
c.1206G>T (p.Glu402Asp)
c.1053G>T (p.Glu351Asp)
10g.13126022G>ACA376029726OPTNc.1225G>A (p.Glu409Lys)
c.1207G>A (p.Glu403Lys)
c.1054G>A (p.Glu352Lys)
10g.13126022G>CCA376029727OPTNc.1225G>C (p.Glu409Gln)
c.1207G>C (p.Glu403Gln)
c.1054G>C (p.Glu352Gln)
10g.13126022G>TCA376029728OPTNc.1225G>T (p.Glu409Ter)
c.1207G>T (p.Glu403Ter)
c.1054G>T (p.Glu352Ter)
10g.13126023A>CCA376029729OPTNc.1226A>C (p.Glu409Ala)
c.1208A>C (p.Glu403Ala)
c.1055A>C (p.Glu352Ala)
10g.13126023A>GCA376029730OPTNc.1226A>G (p.Glu409Gly)
c.1208A>G (p.Glu403Gly)
c.1055A>G (p.Glu352Gly)
10g.13126023A>TCA376029731OPTNc.1226A>T (p.Glu409Val)
c.1208A>T (p.Glu403Val)
c.1055A>T (p.Glu352Val)
10g.13126024A>CCA376029732OPTNc.1227A>C (p.Glu409Asp)
c.1209A>C (p.Glu403Asp)
c.1056A>C (p.Glu352Asp)
10g.13126024A>GCA468240680OPTNc.1227A>G (p.Glu409=)
c.1209A>G (p.Glu403=)
c.1056A>G (p.Glu352=)
 gnomAD v4
10g.13126024A>TCA376029733OPTNc.1227A>T (p.Glu409Asp)
c.1209A>T (p.Glu403Asp)
c.1056A>T (p.Glu352Asp)
10g.13126025C>ACA376029734OPTNc.1228C>A (p.Leu410Ile)
c.1210C>A (p.Leu404Ile)
c.1057C>A (p.Leu353Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.13126025C=CA1891470933OPTNc.1228C= (p.Leu410=)
c.1210C= (p.Leu404=)
c.1057C= (p.Leu353=)
10g.13126025C>GCA376029735OPTNc.1228C>G (p.Leu410Val)
c.1210C>G (p.Leu404Val)
c.1057C>G (p.Leu353Val)
10g.13126025C>TCA468240681OPTNc.1228C>T (p.Leu410=)
c.1210C>T (p.Leu404=)
c.1057C>T (p.Leu353=)

Number of alleles fetched