Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169541927C>ACA343119142F5c.3163G>T (p.Ala1055Ser)
c.3178G>T (p.Ala1060Ser)
c.2752G>T (p.Ala918Ser)
1g.169541927C>GCA343119143F5c.3163G>C (p.Ala1055Pro)
c.3178G>C (p.Ala1060Pro)
c.2752G>C (p.Ala918Pro)
1g.169541927C>TCA343119144F5c.3163G>A (p.Ala1055Thr)
c.3178G>A (p.Ala1060Thr)
c.2752G>A (p.Ala918Thr)
1g.169541928T>ACA343119145F5c.3162A>T (p.Glu1054Asp)
c.3177A>T (p.Glu1059Asp)
c.2751A>T (p.Glu917Asp)
1g.169541928T>CCA421930657F5c.3162A>G (p.Glu1054=)
c.3177A>G (p.Glu1059=)
c.2751A>G (p.Glu917=)
1g.169541928T>GCA1233961F5c.3162A>C (p.Glu1054Asp)
c.3177A>C (p.Glu1059Asp)
c.2751A>C (p.Glu917Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541928T=CA1142277151F5c.3162A= (p.Glu1054=)
c.3177A= (p.Glu1059=)
c.2751A= (p.Glu917=)
1g.169541929T>ACA343119146F5c.3161A>T (p.Glu1054Val)
c.3176A>T (p.Glu1059Val)
c.2750A>T (p.Glu917Val)
1g.169541929T>CCA343119147F5c.3161A>G (p.Glu1054Gly)
c.3176A>G (p.Glu1059Gly)
c.2750A>G (p.Glu917Gly)
1g.169541929T>GCA343119148F5c.3161A>C (p.Glu1054Ala)
c.3176A>C (p.Glu1059Ala)
c.2750A>C (p.Glu917Ala)
1g.169541930C>ACA343119149F5c.3160G>T (p.Glu1054Ter)
c.3175G>T (p.Glu1059Ter)
c.2749G>T (p.Glu917Ter)
1g.169541930C>GCA343119150F5c.3160G>C (p.Glu1054Gln)
c.3175G>C (p.Glu1059Gln)
c.2749G>C (p.Glu917Gln)
1g.169541930C>TCA343119151F5c.3160G>A (p.Glu1054Lys)
c.3175G>A (p.Glu1059Lys)
c.2749G>A (p.Glu917Lys)
1g.169541931A=CA1206132535F5c.3159T= (p.Ser1053=)
c.3174T= (p.Ser1058=)
c.2748T= (p.Ser916=)
1g.169541931A>CCA343119152F5c.3159T>G (p.Ser1053Arg)
c.3174T>G (p.Ser1058Arg)
c.2748T>G (p.Ser916Arg)
1g.169541931A>GCA421930661F5c.3159T>C (p.Ser1053=)
c.3174T>C (p.Ser1058=)
c.2748T>C (p.Ser916=)
 dbSNP gnomAD v3 gnomAD v4
1g.169541931A>TCA343119153F5c.3159T>A (p.Ser1053Arg)
c.3174T>A (p.Ser1058Arg)
c.2748T>A (p.Ser916Arg)
1g.169541932C>ACA343119154F5c.3158G>T (p.Ser1053Ile)
c.3173G>T (p.Ser1058Ile)
c.2747G>T (p.Ser916Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.169541932C=CA1206132537F5c.3158G= (p.Ser1053=)
c.3173G= (p.Ser1058=)
c.2747G= (p.Ser916=)
1g.169541932C>GCA343119155F5c.3158G>C (p.Ser1053Thr)
c.3173G>C (p.Ser1058Thr)
c.2747G>C (p.Ser916Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541932C>TCA343119156F5c.3158G>A (p.Ser1053Asn)
c.3173G>A (p.Ser1058Asn)
c.2747G>A (p.Ser916Asn)
1g.169541933T>ACA343119157F5c.3157A>T (p.Ser1053Cys)
c.3172A>T (p.Ser1058Cys)
c.2746A>T (p.Ser916Cys)
1g.169541933T>CCA343119158F5c.3157A>G (p.Ser1053Gly)
c.3172A>G (p.Ser1058Gly)
c.2746A>G (p.Ser916Gly)
 gnomAD v4
1g.169541933T>GCA343119159F5c.3157A>C (p.Ser1053Arg)
c.3172A>C (p.Ser1058Arg)
c.2746A>C (p.Ser916Arg)
1g.169541934T>ACA32385380F5c.3156A>T (p.Arg1052Ser)
c.3171A>T (p.Arg1057Ser)
c.2745A>T (p.Arg915Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541934T>CCA421930665F5c.3156A>G (p.Arg1052=)
c.3171A>G (p.Arg1057=)
c.2745A>G (p.Arg915=)
1g.169541934T>GCA1233962F5c.3156A>C (p.Arg1052Ser)
c.3171A>C (p.Arg1057Ser)
c.2745A>C (p.Arg915Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541934T=CA1206132539F5c.3156A= (p.Arg1052=)
c.3171A= (p.Arg1057=)
c.2745A= (p.Arg915=)
1g.169541935C>ACA343119160F5c.3155G>T (p.Arg1052Ile)
c.3170G>T (p.Arg1057Ile)
c.2744G>T (p.Arg915Ile)
1g.169541935C>GCA343119161F5c.3155G>C (p.Arg1052Thr)
c.3170G>C (p.Arg1057Thr)
c.2744G>C (p.Arg915Thr)
1g.169541935C>TCA343119162F5c.3155G>A (p.Arg1052Lys)
c.3170G>A (p.Arg1057Lys)
c.2744G>A (p.Arg915Lys)
1g.169541935_169541936insCTGACCACA2538199622F5c.3154_3155insTGGTCAG (p.Arg1052MetfsTer5)
c.3169_3170insTGGTCAG (p.Arg1057MetfsTer5)
c.2743_2744insTGGTCAG (p.Arg915MetfsTer5)
1g.169541936T>ACA343119163F5c.3154A>T (p.Arg1052Ter)
c.3169A>T (p.Arg1057Ter)
c.2743A>T (p.Arg915Ter)
1g.169541936T>CCA343119164F5c.3154A>G (p.Arg1052Gly)
c.3169A>G (p.Arg1057Gly)
c.2743A>G (p.Arg915Gly)
1g.169541936T>GCA421930668F5c.3154A>C (p.Arg1052=)
c.3169A>C (p.Arg1057=)
c.2743A>C (p.Arg915=)
1g.169541936_169541937insAGCA2586964382F5c.3153_3154insCT (p.Arg1052LeufsTer?)
c.3168_3169insCT (p.Arg1057LeufsTer?)
c.2742_2743insCT (p.Arg915LeufsTer?)
1g.169541937T>ACA421930669F5c.3153A>T (p.Leu1051=)
c.3168A>T (p.Leu1056=)
c.2742A>T (p.Leu914=)
1g.169541937T>CCA1233963F5c.3153A>G (p.Leu1051=)
c.3168A>G (p.Leu1056=)
c.2742A>G (p.Leu914=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541937T>GCA421930672F5c.3153A>C (p.Leu1051=)
c.3168A>C (p.Leu1056=)
c.2742A>C (p.Leu914=)
 dbSNP gnomAD v2 gnomAD v4
1g.169541937T=CA1144609550F5c.3153A= (p.Leu1051=)
c.3168A= (p.Leu1056=)
c.2742A= (p.Leu914=)
1g.169541938A>CCA343119168F5c.3152T>G (p.Leu1051Arg)
c.3167T>G (p.Leu1056Arg)
c.2741T>G (p.Leu914Arg)
1g.169541938A>GCA343119167F5c.3152T>C (p.Leu1051Pro)
c.3167T>C (p.Leu1056Pro)
c.2741T>C (p.Leu914Pro)
1g.169541938A>TCA343119166F5c.3152T>A (p.Leu1051Gln)
c.3167T>A (p.Leu1056Gln)
c.2741T>A (p.Leu914Gln)
1g.169541939G>ACA32385384F5c.3151C>T (p.Leu1051=)
c.3166C>T (p.Leu1056=)
c.2740C>T (p.Leu914=)
 dbSNP gnomAD v3 gnomAD v4
1g.169541939G>CCA343119169F5c.3151C>G (p.Leu1051Val)
c.3166C>G (p.Leu1056Val)
c.2740C>G (p.Leu914Val)
1g.169541939G=CA1142295936F5c.3151C= (p.Leu1051=)
c.3166C= (p.Leu1056=)
c.2740C= (p.Leu914=)
1g.169541939G>TCA343119170F5c.3151C>A (p.Leu1051Ile)
c.3166C>A (p.Leu1056Ile)
c.2740C>A (p.Leu914Ile)
1g.169541940A>CCA421930674F5c.3150T>G (p.Pro1050=)
c.3165T>G (p.Pro1055=)
c.2739T>G (p.Pro913=)
1g.169541940A>GCA421930675F5c.3150T>C (p.Pro1050=)
c.3165T>C (p.Pro1055=)
c.2739T>C (p.Pro913=)
1g.169541940A>TCA421930676F5c.3150T>A (p.Pro1050=)
c.3165T>A (p.Pro1055=)
c.2739T>A (p.Pro913=)
1g.169541941G>ACA1233964F5c.3149C>T (p.Pro1050Leu)
c.3164C>T (p.Pro1055Leu)
c.2738C>T (p.Pro913Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541941G>CCA343119171F5c.3149C>G (p.Pro1050Arg)
c.3164C>G (p.Pro1055Arg)
c.2738C>G (p.Pro913Arg)
 gnomAD v4
1g.169541941G=CA1206132542F5c.3149C= (p.Pro1050=)
c.3164C= (p.Pro1055=)
c.2738C= (p.Pro913=)
1g.169541941G>TCA343119172F5c.3149C>A (p.Pro1050His)
c.3164C>A (p.Pro1055His)
c.2738C>A (p.Pro913His)
 dbSNP
1g.169541942G>ACA343119175F5c.3148C>T (p.Pro1050Ser)
c.3163C>T (p.Pro1055Ser)
c.2737C>T (p.Pro913Ser)
1g.169541942G>CCA343119173F5c.3148C>G (p.Pro1050Ala)
c.3163C>G (p.Pro1055Ala)
c.2737C>G (p.Pro913Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.169541942G=CA1206132544F5c.3148C= (p.Pro1050=)
c.3163C= (p.Pro1055=)
c.2737C= (p.Pro913=)
1g.169541942G>TCA343119174F5c.3148C>A (p.Pro1050Thr)
c.3163C>A (p.Pro1055Thr)
c.2737C>A (p.Pro913Thr)
1g.169541943G>ACA32385388F5c.3147C>T (p.His1049=)
c.3162C>T (p.His1054=)
c.2736C>T (p.His912=)
 dbSNP gnomAD v3 gnomAD v4
1g.169541943G>CCA343119176F5c.3147C>G (p.His1049Gln)
c.3162C>G (p.His1054Gln)
c.2736C>G (p.His912Gln)
1g.169541943G=CA1206132546F5c.3147C= (p.His1049=)
c.3162C= (p.His1054=)
c.2736C= (p.His912=)
1g.169541943G>TCA343119177F5c.3147C>A (p.His1049Gln)
c.3162C>A (p.His1054Gln)
c.2736C>A (p.His912Gln)
1g.169541944T>ACA343119178F5c.3146A>T (p.His1049Leu)
c.3161A>T (p.His1054Leu)
c.2735A>T (p.His912Leu)
1g.169541944T>CCA343119179F5c.3146A>G (p.His1049Arg)
c.3161A>G (p.His1054Arg)
c.2735A>G (p.His912Arg)
 dbSNP gnomAD v4
1g.169541944T>GCA343119180F5c.3146A>C (p.His1049Pro)
c.3161A>C (p.His1054Pro)
c.2735A>C (p.His912Pro)
1g.169541944T=CA1206132547F5c.3146A= (p.His1049=)
c.3161A= (p.His1054=)
c.2735A= (p.His912=)
1g.169541945G>ACA1233965F5c.3145C>T (p.His1049Tyr)
c.3160C>T (p.His1054Tyr)
c.2734C>T (p.His912Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541945G>CCA343119181F5c.3145C>G (p.His1049Asp)
c.3160C>G (p.His1054Asp)
c.2734C>G (p.His912Asp)
1g.169541945G=CA1206132548F5c.3145C= (p.His1049=)
c.3160C= (p.His1054=)
c.2734C= (p.His912=)
1g.169541945G>TCA343119182F5c.3145C>A (p.His1049Asn)
c.3160C>A (p.His1054Asn)
c.2734C>A (p.His912Asn)
1g.169541946A>CCA343119183F5c.3144T>G (p.Phe1048Leu)
c.3159T>G (p.Phe1053Leu)
c.2733T>G (p.Phe911Leu)
1g.169541946A>GCA421930686F5c.3144T>C (p.Phe1048=)
c.3159T>C (p.Phe1053=)
c.2733T>C (p.Phe911=)
1g.169541946A>TCA343119184F5c.3144T>A (p.Phe1048Leu)
c.3159T>A (p.Phe1053Leu)
c.2733T>A (p.Phe911Leu)
1g.169541947A>CCA343119185F5c.3143T>G (p.Phe1048Cys)
c.3158T>G (p.Phe1053Cys)
c.2732T>G (p.Phe911Cys)
1g.169541947A>GCA343119186F5c.3143T>C (p.Phe1048Ser)
c.3158T>C (p.Phe1053Ser)
c.2732T>C (p.Phe911Ser)
1g.169541947A>TCA343119187F5c.3143T>A (p.Phe1048Tyr)
c.3158T>A (p.Phe1053Tyr)
c.2732T>A (p.Phe911Tyr)
1g.169541948A=CA1206132549F5c.3142T= (p.Phe1048=)
c.3157T= (p.Phe1053=)
c.2731T= (p.Phe911=)
1g.169541948A>CCA343119188F5c.3142T>G (p.Phe1048Val)
c.3157T>G (p.Phe1053Val)
c.2731T>G (p.Phe911Val)
1g.169541948A>GCA1233966F5c.3142T>C (p.Phe1048Leu)
c.3157T>C (p.Phe1053Leu)
c.2731T>C (p.Phe911Leu)
 dbSNP ExAC gnomAD v4
1g.169541948A>TCA343119189F5c.3142T>A (p.Phe1048Ile)
c.3157T>A (p.Phe1053Ile)
c.2731T>A (p.Phe911Ile)
1g.169541949G>ACA1233967F5c.3141C>T (p.Thr1047=)
c.3156C>T (p.Thr1052=)
c.2730C>T (p.Thr910=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541949G>CCA421930690F5c.3141C>G (p.Thr1047=)
c.3156C>G (p.Thr1052=)
c.2730C>G (p.Thr910=)
1g.169541949G=CA1206132551F5c.3141C= (p.Thr1047=)
c.3156C= (p.Thr1052=)
c.2730C= (p.Thr910=)
1g.169541949G>TCA421930692F5c.3141C>A (p.Thr1047=)
c.3156C>A (p.Thr1052=)
c.2730C>A (p.Thr910=)
 dbSNP gnomAD v3 gnomAD v4
1g.169541950G>ACA343119190F5c.3140C>T (p.Thr1047Ile)
c.3155C>T (p.Thr1052Ile)
c.2729C>T (p.Thr910Ile)
1g.169541950G>CCA343119191F5c.3140C>G (p.Thr1047Ser)
c.3155C>G (p.Thr1052Ser)
c.2729C>G (p.Thr910Ser)
1g.169541950G>TCA343119192F5c.3140C>A (p.Thr1047Asn)
c.3155C>A (p.Thr1052Asn)
c.2729C>A (p.Thr910Asn)
1g.169541951T>ACA343119193F5c.3139A>T (p.Thr1047Ser)
c.3154A>T (p.Thr1052Ser)
c.2728A>T (p.Thr910Ser)
 dbSNP gnomAD v4
1g.169541951T>CCA343119194F5c.3139A>G (p.Thr1047Ala)
c.3154A>G (p.Thr1052Ala)
c.2728A>G (p.Thr910Ala)
1g.169541951T>GCA343119195F5c.3139A>C (p.Thr1047Pro)
c.3154A>C (p.Thr1052Pro)
c.2728A>C (p.Thr910Pro)
1g.169541951T=CA1206132552F5c.3139A= (p.Thr1047=)
c.3154A= (p.Thr1052=)
c.2728A= (p.Thr910=)
1g.169541952C>ACA343119196F5c.3138G>T (p.Arg1046Ser)
c.3153G>T (p.Arg1051Ser)
c.2727G>T (p.Arg909Ser)
1g.169541952C>GCA343119197F5c.3138G>C (p.Arg1046Ser)
c.3153G>C (p.Arg1051Ser)
c.2727G>C (p.Arg909Ser)
1g.169541952C>TCA421930693F5c.3138G>A (p.Arg1046=)
c.3153G>A (p.Arg1051=)
c.2727G>A (p.Arg909=)
 gnomAD v4 COSMIC
1g.169541953C>ACA343119198F5c.3137G>T (p.Arg1046Met)
c.3152G>T (p.Arg1051Met)
c.2726G>T (p.Arg909Met)
1g.169541953C>GCA343119199F5c.3137G>C (p.Arg1046Thr)
c.3152G>C (p.Arg1051Thr)
c.2726G>C (p.Arg909Thr)
1g.169541953C>TCA343119200F5c.3137G>A (p.Arg1046Lys)
c.3152G>A (p.Arg1051Lys)
c.2726G>A (p.Arg909Lys)
1g.169541954T>ACA343119201F5c.3136A>T (p.Arg1046Trp)
c.3151A>T (p.Arg1051Trp)
c.2725A>T (p.Arg909Trp)
 gnomAD v4
1g.169541954T>CCA343119202F5c.3136A>G (p.Arg1046Gly)
c.3151A>G (p.Arg1051Gly)
c.2725A>G (p.Arg909Gly)
1g.169541954T>GCA421930698F5c.3136A>C (p.Arg1046=)
c.3151A>C (p.Arg1051=)
c.2725A>C (p.Arg909=)
1g.169541955C>ACA1233968F5c.3135G>T (p.Pro1045=)
c.3150G>T (p.Pro1050=)
c.2724G>T (p.Pro908=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541955C=CA1206132554F5c.3135G= (p.Pro1045=)
c.3150G= (p.Pro1050=)
c.2724G= (p.Pro908=)
1g.169541955C>GCA421930702F5c.3135G>C (p.Pro1045=)
c.3150G>C (p.Pro1050=)
c.2724G>C (p.Pro908=)
1g.169541955C>TCA32385394F5c.3135G>A (p.Pro1045=)
c.3150G>A (p.Pro1050=)
c.2724G>A (p.Pro908=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541956G>ACA1233969F5c.3134C>T (p.Pro1045Leu)
c.3149C>T (p.Pro1050Leu)
c.2723C>T (p.Pro908Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169541956G>CCA343119203F5c.3134C>G (p.Pro1045Arg)
c.3149C>G (p.Pro1050Arg)
c.2723C>G (p.Pro908Arg)
1g.169541956G=CA1206132556F5c.3134C= (p.Pro1045=)
c.3149C= (p.Pro1050=)
c.2723C= (p.Pro908=)
1g.169541956G>TCA343119204F5c.3134C>A (p.Pro1045Gln)
c.3149C>A (p.Pro1050Gln)
c.2723C>A (p.Pro908Gln)
1g.169541957G>ACA343119205F5c.3133C>T (p.Pro1045Ser)
c.3148C>T (p.Pro1050Ser)
c.2722C>T (p.Pro908Ser)
1g.169541957G>CCA343119206F5c.3133C>G (p.Pro1045Ala)
c.3148C>G (p.Pro1050Ala)
c.2722C>G (p.Pro908Ala)
1g.169541957G>TCA343119207F5c.3133C>A (p.Pro1045Thr)
c.3148C>A (p.Pro1050Thr)
c.2722C>A (p.Pro908Thr)
1g.169541958A>CCA421930705F5c.3132T>G (p.Ser1044=)
c.3147T>G (p.Ser1049=)
c.2721T>G (p.Ser907=)
1g.169541958A>GCA421930706F5c.3132T>C (p.Ser1044=)
c.3147T>C (p.Ser1049=)
c.2721T>C (p.Ser907=)
1g.169541958A>TCA421930707F5c.3132T>A (p.Ser1044=)
c.3147T>A (p.Ser1049=)
c.2721T>A (p.Ser907=)
1g.169541959G>ACA343119210F5c.3131C>T (p.Ser1044Phe)
c.3146C>T (p.Ser1049Phe)
c.2720C>T (p.Ser907Phe)
1g.169541959G>CCA343119208F5c.3131C>G (p.Ser1044Cys)
c.3146C>G (p.Ser1049Cys)
c.2720C>G (p.Ser907Cys)
1g.169541959G>TCA343119209F5c.3131C>A (p.Ser1044Tyr)
c.3146C>A (p.Ser1049Tyr)
c.2720C>A (p.Ser907Tyr)
1g.169541960A>CCA343119211F5c.3130T>G (p.Ser1044Ala)
c.3145T>G (p.Ser1049Ala)
c.2719T>G (p.Ser907Ala)
1g.169541960A>GCA343119212F5c.3130T>C (p.Ser1044Pro)
c.3145T>C (p.Ser1049Pro)
c.2719T>C (p.Ser907Pro)
1g.169541960A>TCA343119213F5c.3130T>A (p.Ser1044Thr)
c.3145T>A (p.Ser1049Thr)
c.2719T>A (p.Ser907Thr)
1g.169541961T>ACA343119214F5c.3129A>T (p.Leu1043Phe)
c.3144A>T (p.Leu1048Phe)
c.2718A>T (p.Leu906Phe)
1g.169541961T>CCA421930709F5c.3129A>G (p.Leu1043=)
c.3144A>G (p.Leu1048=)
c.2718A>G (p.Leu906=)
1g.169541961T>GCA343119215F5c.3129A>C (p.Leu1043Phe)
c.3144A>C (p.Leu1048Phe)
c.2718A>C (p.Leu906Phe)
1g.169541962A>CCA343119216F5c.3128T>G (p.Leu1043Ter)
c.3143T>G (p.Leu1048Ter)
c.2717T>G (p.Leu906Ter)
1g.169541962A>GCA343119218F5c.3128T>C (p.Leu1043Ser)
c.3143T>C (p.Leu1048Ser)
c.2717T>C (p.Leu906Ser)
1g.169541962A>TCA343119217F5c.3128T>A (p.Leu1043Ter)
c.3143T>A (p.Leu1048Ter)
c.2717T>A (p.Leu906Ter)
1g.169541963A>CCA343119219F5c.3127T>G (p.Leu1043Val)
c.3142T>G (p.Leu1048Val)
c.2716T>G (p.Leu906Val)
1g.169541963A>GCA421930711F5c.3127T>C (p.Leu1043=)
c.3142T>C (p.Leu1048=)
c.2716T>C (p.Leu906=)
 gnomAD v4
1g.169541963A>TCA343119220F5c.3127T>A (p.Leu1043Ile)
c.3142T>A (p.Leu1048Ile)
c.2716T>A (p.Leu906Ile)
1g.169541964A>CCA421930713F5c.3126T>G (p.Pro1042=)
c.3141T>G (p.Pro1047=)
c.2715T>G (p.Pro905=)
1g.169541964A>GCA421930714F5c.3126T>C (p.Pro1042=)
c.3141T>C (p.Pro1047=)
c.2715T>C (p.Pro905=)
 gnomAD v4
1g.169541964A>TCA421930712F5c.3126T>A (p.Pro1042=)
c.3141T>A (p.Pro1047=)
c.2715T>A (p.Pro905=)
1g.169541965G>ACA343119221F5c.3125C>T (p.Pro1042Leu)
c.3140C>T (p.Pro1047Leu)
c.2714C>T (p.Pro905Leu)
1g.169541965G>CCA343119222F5c.3125C>G (p.Pro1042Arg)
c.3140C>G (p.Pro1047Arg)
c.2714C>G (p.Pro905Arg)
1g.169541965G>TCA343119223F5c.3125C>A (p.Pro1042His)
c.3140C>A (p.Pro1047His)
c.2714C>A (p.Pro905His)
1g.169541966G>ACA343119224F5c.3124C>T (p.Pro1042Ser)
c.3139C>T (p.Pro1047Ser)
c.2713C>T (p.Pro905Ser)
 ClinVar dbSNP COSMIC
1g.169541966G>CCA343119225F5c.3124C>G (p.Pro1042Ala)
c.3139C>G (p.Pro1047Ala)
c.2713C>G (p.Pro905Ala)
 dbSNP
1g.169541966G=CA1206132558F5c.3124C= (p.Pro1042=)
c.3139C= (p.Pro1047=)
c.2713C= (p.Pro905=)
1g.169541966G>TCA343119226F5c.3124C>A (p.Pro1042Thr)
c.3139C>A (p.Pro1047Thr)
c.2713C>A (p.Pro905Thr)
1g.169541967A>CCA421930718F5c.3123T>G (p.Ala1041=)
c.3138T>G (p.Ala1046=)
c.2712T>G (p.Ala904=)
 gnomAD v4
1g.169541967A>GCA421930715F5c.3123T>C (p.Ala1041=)
c.3138T>C (p.Ala1046=)
c.2712T>C (p.Ala904=)
 gnomAD v4
1g.169541967A>TCA421930716F5c.3123T>A (p.Ala1041=)
c.3138T>A (p.Ala1046=)
c.2712T>A (p.Ala904=)
1g.169541968G>ACA343119227F5c.3122C>T (p.Ala1041Val)
c.3137C>T (p.Ala1046Val)
c.2711C>T (p.Ala904Val)
1g.169541968G>CCA32385397F5c.3122C>G (p.Ala1041Gly)
c.3137C>G (p.Ala1046Gly)
c.2711C>G (p.Ala904Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.169541968G=CA1206132561F5c.3122C= (p.Ala1041=)
c.3137C= (p.Ala1046=)
c.2711C= (p.Ala904=)
1g.169541968G>TCA343119228F5c.3122C>A (p.Ala1041Asp)
c.3137C>A (p.Ala1046Asp)
c.2711C>A (p.Ala904Asp)
1g.169541969C>ACA343119229F5c.3121G>T (p.Ala1041Ser)
c.3136G>T (p.Ala1046Ser)
c.2710G>T (p.Ala904Ser)
 gnomAD v4
1g.169541969C>GCA343119230F5c.3121G>C (p.Ala1041Pro)
c.3136G>C (p.Ala1046Pro)
c.2710G>C (p.Ala904Pro)
1g.169541969C>TCA343119231F5c.3121G>A (p.Ala1041Thr)
c.3136G>A (p.Ala1046Thr)
c.2710G>A (p.Ala904Thr)
1g.169541970A=CA1206132564F5c.3120T= (p.His1040=)
c.3135T= (p.His1045=)
c.2709T= (p.His903=)
1g.169541970A>CCA343119232F5c.3120T>G (p.His1040Gln)
c.3135T>G (p.His1045Gln)
c.2709T>G (p.His903Gln)
1g.169541970A>GCA421930722F5c.3120T>C (p.His1040=)
c.3135T>C (p.His1045=)
c.2709T>C (p.His903=)
 ClinVar dbSNP gnomAD v4
1g.169541970A>TCA343119233F5c.3120T>A (p.His1040Gln)
c.3135T>A (p.His1045Gln)
c.2709T>A (p.His903Gln)
1g.169541971T>ACA343119234F5c.3119A>T (p.His1040Leu)
c.3134A>T (p.His1045Leu)
c.2708A>T (p.His903Leu)
1g.169541971T>CCA343119235F5c.3119A>G (p.His1040Arg)
c.3134A>G (p.His1045Arg)
c.2708A>G (p.His903Arg)
1g.169541971T>GCA343119236F5c.3119A>C (p.His1040Pro)
c.3134A>C (p.His1045Pro)
c.2708A>C (p.His903Pro)
1g.169541971_169541972dupCA1206132567F5c.3118_3119dup (p.Ala1041MetfsTer12)
c.3133_3134dup (p.Ala1046MetfsTer12)
c.2707_2708dup (p.Ala904MetfsTer12)
 dbSNP
1g.169541972G>ACA1233970F5c.3118C>T (p.His1040Tyr)
c.3133C>T (p.His1045Tyr)
c.2707C>T (p.His903Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541972G>CCA343119237F5c.3118C>G (p.His1040Asp)
c.3133C>G (p.His1045Asp)
c.2707C>G (p.His903Asp)
1g.169541972G=CA1206132569F5c.3118C= (p.His1040=)
c.3133C= (p.His1045=)
c.2707C= (p.His903=)
1g.169541972G>TCA343119238F5c.3118C>A (p.His1040Asn)
c.3133C>A (p.His1045Asn)
c.2707C>A (p.His903Asn)
1g.169541973G>ACA421930727F5c.3117C>T (p.His1039=)
c.3132C>T (p.His1044=)
c.2706C>T (p.His902=)
1g.169541973G>CCA343119239F5c.3117C>G (p.His1039Gln)
c.3132C>G (p.His1044Gln)
c.2706C>G (p.His902Gln)
 gnomAD v4
1g.169541973G>TCA343119240F5c.3117C>A (p.His1039Gln)
c.3132C>A (p.His1044Gln)
c.2706C>A (p.His902Gln)
1g.169541980_169541981dupCA2649035552F5c.3116_3117dup (p.His1040ThrfsTer13)
c.3131_3132dup (p.His1045ThrfsTer13)
c.2705_2706dup (p.His903ThrfsTer13)
 gnomAD v4
1g.169541974T>ACA343119241F5c.3116A>T (p.His1039Leu)
c.3131A>T (p.His1044Leu)
c.2705A>T (p.His902Leu)
1g.169541974T>CCA343119242F5c.3116A>G (p.His1039Arg)
c.3131A>G (p.His1044Arg)
c.2705A>G (p.His902Arg)
1g.169541974T>GCA343119243F5c.3116A>C (p.His1039Pro)
c.3131A>C (p.His1044Pro)
c.2705A>C (p.His902Pro)
 gnomAD v4
1g.169541975G>ACA343119246F5c.3115C>T (p.His1039Tyr)
c.3130C>T (p.His1044Tyr)
c.2704C>T (p.His902Tyr)
1g.169541975G>CCA343119244F5c.3115C>G (p.His1039Asp)
c.3130C>G (p.His1044Asp)
c.2704C>G (p.His902Asp)
1g.169541975G>TCA343119245F5c.3115C>A (p.His1039Asn)
c.3130C>A (p.His1044Asn)
c.2704C>A (p.His902Asn)
1g.169541976T>ACA421930728F5c.3114A>T (p.Thr1038=)
c.3129A>T (p.Thr1043=)
c.2703A>T (p.Thr901=)
 dbSNP gnomAD v2 gnomAD v4
1g.169541976T>CCA421930729F5c.3114A>G (p.Thr1038=)
c.3129A>G (p.Thr1043=)
c.2703A>G (p.Thr901=)
 gnomAD v4
1g.169541976T>GCA421930730F5c.3114A>C (p.Thr1038=)
c.3129A>C (p.Thr1043=)
c.2703A>C (p.Thr901=)
1g.169541976T=CA1206132570F5c.3114A= (p.Thr1038=)
c.3129A= (p.Thr1043=)
c.2703A= (p.Thr901=)
1g.169541977G>ACA1233971F5c.3113C>T (p.Thr1038Ile)
c.3128C>T (p.Thr1043Ile)
c.2702C>T (p.Thr901Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541977G>CCA343119248F5c.3113C>G (p.Thr1038Arg)
c.3128C>G (p.Thr1043Arg)
c.2702C>G (p.Thr901Arg)
 gnomAD v4
1g.169541977G=CA1206132572F5c.3113C= (p.Thr1038=)
c.3128C= (p.Thr1043=)
c.2702C= (p.Thr901=)
1g.169541977G>TCA343119247F5c.3113C>A (p.Thr1038Lys)
c.3128C>A (p.Thr1043Lys)
c.2702C>A (p.Thr901Lys)
1g.169541978T>ACA343119249F5c.3112A>T (p.Thr1038Ser)
c.3127A>T (p.Thr1043Ser)
c.2701A>T (p.Thr901Ser)
1g.169541978T>CCA343119250F5c.3112A>G (p.Thr1038Ala)
c.3127A>G (p.Thr1043Ala)
c.2701A>G (p.Thr901Ala)
 gnomAD v4
1g.169541978T>GCA343119251F5c.3112A>C (p.Thr1038Pro)
c.3127A>C (p.Thr1043Pro)
c.2701A>C (p.Thr901Pro)
1g.169541979G>ACA421930734F5c.3111C>T (p.His1037=)
c.3126C>T (p.His1042=)
c.2700C>T (p.His900=)
 gnomAD v4
1g.169541979G>CCA343119252F5c.3111C>G (p.His1037Gln)
c.3126C>G (p.His1042Gln)
c.2700C>G (p.His900Gln)
1g.169541979G=CA1206132574F5c.3111C= (p.His1037=)
c.3126C= (p.His1042=)
c.2700C= (p.His900=)
1g.169541979G>TCA343119253F5c.3111C>A (p.His1037Gln)
c.3126C>A (p.His1042Gln)
c.2700C>A (p.His900Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.169541980T>ACA343119254F5c.3110A>T (p.His1037Leu)
c.3125A>T (p.His1042Leu)
c.2699A>T (p.His900Leu)
1g.169541980T>CCA343119255F5c.3110A>G (p.His1037Arg)
c.3125A>G (p.His1042Arg)
c.2699A>G (p.His900Arg)
1g.169541980T>GCA343119256F5c.3110A>C (p.His1037Pro)
c.3125A>C (p.His1042Pro)
c.2699A>C (p.His900Pro)
1g.169541981G>ACA343119257F5c.3109C>T (p.His1037Tyr)
c.3124C>T (p.His1042Tyr)
c.2698C>T (p.His900Tyr)
1g.169541981G>CCA343119258F5c.3109C>G (p.His1037Asp)
c.3124C>G (p.His1042Asp)
c.2698C>G (p.His900Asp)
1g.169541981G>TCA343119259F5c.3109C>A (p.His1037Asn)
c.3124C>A (p.His1042Asn)
c.2698C>A (p.His900Asn)
1g.169541982C>ACA343119260F5c.3108G>T (p.Lys1036Asn)
c.3123G>T (p.Lys1041Asn)
c.2697G>T (p.Lys899Asn)
1g.169541982C=CA1206132576F5c.3108G= (p.Lys1036=)
c.3123G= (p.Lys1041=)
c.2697G= (p.Lys899=)
1g.169541982C>GCA343119261F5c.3108G>C (p.Lys1036Asn)
c.3123G>C (p.Lys1041Asn)
c.2697G>C (p.Lys899Asn)
1g.169541982C>TCA421930740F5c.3108G>A (p.Lys1036=)
c.3123G>A (p.Lys1041=)
c.2697G>A (p.Lys899=)
 dbSNP gnomAD v3 gnomAD v4
1g.169541984_169541986delCA421930741F5c.3106_3108del (p.Lys1036del)
c.3121_3123del (p.Lys1041del)
c.2695_2697del (p.Lys899del)
 ClinVar gnomAD v4
1g.169541983T>ACA343119264F5c.3107A>T (p.Lys1036Met)
c.3122A>T (p.Lys1041Met)
c.2696A>T (p.Lys899Met)
1g.169541983T>CCA343119262F5c.3107A>G (p.Lys1036Arg)
c.3122A>G (p.Lys1041Arg)
c.2696A>G (p.Lys899Arg)
1g.169541983T>GCA343119263F5c.3107A>C (p.Lys1036Thr)
c.3122A>C (p.Lys1041Thr)
c.2696A>C (p.Lys899Thr)
1g.169541983_169541985delinsTTCCA1206132578F5c.3105_3107delinsGAA (p.Glu1035=)
c.3120_3122delinsGAA (p.Glu1040=)
c.2694_2696delinsGAA (p.Glu898=)
1g.169541984T>ACA343119265F5c.3106A>T (p.Lys1036Ter)
c.3121A>T (p.Lys1041Ter)
c.2695A>T (p.Lys899Ter)
1g.169541984T>CCA343119266F5c.3106A>G (p.Lys1036Glu)
c.3121A>G (p.Lys1041Glu)
c.2695A>G (p.Lys899Glu)
1g.169541984T>GCA343119267F5c.3106A>C (p.Lys1036Gln)
c.3121A>C (p.Lys1041Gln)
c.2695A>C (p.Lys899Gln)
1g.169541987_169541988delCA527131168F5c.3105_3106del (p.Lys1036AlafsTer18)
c.3120_3121del (p.Lys1041AlafsTer18)
c.2694_2695del (p.Lys899AlafsTer18)
 dbSNP gnomAD v2 gnomAD v4
1g.169541985C>ACA343119268F5c.3105G>T (p.Glu1035Asp)
c.3120G>T (p.Glu1040Asp)
c.2694G>T (p.Glu898Asp)
1g.169541985C=CA1206132579F5c.3105G= (p.Glu1035=)
c.3120G= (p.Glu1040=)
c.2694G= (p.Glu898=)
1g.169541985C>GCA343119269F5c.3105G>C (p.Glu1035Asp)
c.3120G>C (p.Glu1040Asp)
c.2694G>C (p.Glu898Asp)
1g.169541985C>TCA1233972F5c.3105G>A (p.Glu1035=)
c.3120G>A (p.Glu1040=)
c.2694G>A (p.Glu898=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169541985_169541992delinsCTCTTTTTCA1206132582F5c.3098_3105delinsAAAAAGAG (p.Lys1033=)
c.3113_3120delinsAAAAAGAG (p.Lys1038=)
c.2687_2694delinsAAAAAGAG (p.Lys896=)
1g.169541986T>ACA343119270F5c.3104A>T (p.Glu1035Val)
c.3119A>T (p.Glu1040Val)
c.2693A>T (p.Glu898Val)
1g.169541986T>CCA343119271F5c.3104A>G (p.Glu1035Gly)
c.3119A>G (p.Glu1040Gly)
c.2693A>G (p.Glu898Gly)
1g.169541986T>GCA343119272F5c.3104A>C (p.Glu1035Ala)
c.3119A>C (p.Glu1040Ala)
c.2693A>C (p.Glu898Ala)
 dbSNP gnomAD v4
1g.169541986T=CA1206132584F5c.3104A= (p.Glu1035=)
c.3119A= (p.Glu1040=)
c.2693A= (p.Glu898=)
1g.169541995_169542001delCA527131169F5c.3098_3104del (p.Lys1033ArgfsTer17)
c.3113_3119del (p.Lys1038ArgfsTer17)
c.2687_2693del (p.Lys896ArgfsTer17)
 dbSNP gnomAD v2 gnomAD v4
1g.169541987C>ACA343119273F5c.3103G>T (p.Glu1035Ter)
c.3118G>T (p.Glu1040Ter)
c.2692G>T (p.Glu898Ter)
1g.169541987C=CA1206132586F5c.3103G= (p.Glu1035=)
c.3118G= (p.Glu1040=)
c.2692G= (p.Glu898=)
1g.169541987C>GCA343119274F5c.3103G>C (p.Glu1035Gln)
c.3118G>C (p.Glu1040Gln)
c.2692G>C (p.Glu898Gln)
1g.169541987C>TCA1233973F5c.3103G>A (p.Glu1035Lys)
c.3118G>A (p.Glu1040Lys)
c.2692G>A (p.Glu898Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541988T>ACA343119276F5c.3102A>T (p.Lys1034Asn)
c.3117A>T (p.Lys1039Asn)
c.2691A>T (p.Lys897Asn)
1g.169541988T>CCA421930750F5c.3102A>G (p.Lys1034=)
c.3117A>G (p.Lys1039=)
c.2691A>G (p.Lys897=)
1g.169541988T>GCA343119275F5c.3102A>C (p.Lys1034Asn)
c.3117A>C (p.Lys1039Asn)
c.2691A>C (p.Lys897Asn)
 COSMIC
1g.169541989T>ACA343119277F5c.3101A>T (p.Lys1034Ile)
c.3116A>T (p.Lys1039Ile)
c.2690A>T (p.Lys897Ile)
 gnomAD v4
1g.169541989T>CCA343119278F5c.3101A>G (p.Lys1034Arg)
c.3116A>G (p.Lys1039Arg)
c.2690A>G (p.Lys897Arg)
1g.169541989T>GCA343119279F5c.3101A>C (p.Lys1034Thr)
c.3116A>C (p.Lys1039Thr)
c.2690A>C (p.Lys897Thr)
1g.169541990T>ACA343119280F5c.3100A>T (p.Lys1034Ter)
c.3115A>T (p.Lys1039Ter)
c.2689A>T (p.Lys897Ter)
1g.169541990T>CCA343119281F5c.3100A>G (p.Lys1034Glu)
c.3115A>G (p.Lys1039Glu)
c.2689A>G (p.Lys897Glu)
1g.169541990T>GCA343119282F5c.3100A>C (p.Lys1034Gln)
c.3115A>C (p.Lys1039Gln)
c.2689A>C (p.Lys897Gln)
1g.169541991T>ACA343119283F5c.3099A>T (p.Lys1033Asn)
c.3114A>T (p.Lys1038Asn)
c.2688A>T (p.Lys896Asn)
1g.169541991T>CCA421930758F5c.3099A>G (p.Lys1033=)
c.3114A>G (p.Lys1038=)
c.2688A>G (p.Lys896=)
1g.169541991T>GCA343119284F5c.3099A>C (p.Lys1033Asn)
c.3114A>C (p.Lys1038Asn)
c.2688A>C (p.Lys896Asn)
1g.169541992T>ACA343119285F5c.3098A>T (p.Lys1033Ile)
c.3113A>T (p.Lys1038Ile)
c.2687A>T (p.Lys896Ile)
1g.169541992T>CCA1233974F5c.3098A>G (p.Lys1033Arg)
c.3113A>G (p.Lys1038Arg)
c.2687A>G (p.Lys896Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541992T>GCA343119286F5c.3098A>C (p.Lys1033Thr)
c.3113A>C (p.Lys1038Thr)
c.2687A>C (p.Lys896Thr)
1g.169541992T=CA1206132587F5c.3098A= (p.Lys1033=)
c.3113A= (p.Lys1038=)
c.2687A= (p.Lys896=)
1g.169541993T>ACA343119287F5c.3097A>T (p.Lys1033Ter)
c.3112A>T (p.Lys1038Ter)
c.2686A>T (p.Lys896Ter)
1g.169541993T>CCA343119288F5c.3097A>G (p.Lys1033Glu)
c.3112A>G (p.Lys1038Glu)
c.2686A>G (p.Lys896Glu)
 gnomAD v4
1g.169541993T>GCA343119289F5c.3097A>C (p.Lys1033Gln)
c.3112A>C (p.Lys1038Gln)
c.2686A>C (p.Lys896Gln)
1g.169541994delCA2574085132F5c.3096del (p.Glu1035ArgfsTer17)
c.3111del (p.Glu1040ArgfsTer17)
c.2685del (p.Glu898ArgfsTer17)
1g.169541994C>ACA343119291F5c.3096G>T (p.Lys1032Asn)
c.3111G>T (p.Lys1037Asn)
c.2685G>T (p.Lys895Asn)
1g.169541994C=CA1206132588F5c.3096G= (p.Lys1032=)
c.3111G= (p.Lys1037=)
c.2685G= (p.Lys895=)
1g.169541994C>GCA343119290F5c.3096G>C (p.Lys1032Asn)
c.3111G>C (p.Lys1037Asn)
c.2685G>C (p.Lys895Asn)
 COSMIC
1g.169541994C>TCA421930761F5c.3096G>A (p.Lys1032=)
c.3111G>A (p.Lys1037=)
c.2685G>A (p.Lys895=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541995T>ACA343119292F5c.3095A>T (p.Lys1032Met)
c.3110A>T (p.Lys1037Met)
c.2684A>T (p.Lys895Met)
1g.169541995T>CCA343119293F5c.3095A>G (p.Lys1032Arg)
c.3110A>G (p.Lys1037Arg)
c.2684A>G (p.Lys895Arg)
1g.169541995T>GCA343119294F5c.3095A>C (p.Lys1032Thr)
c.3110A>C (p.Lys1037Thr)
c.2684A>C (p.Lys895Thr)
1g.169542000delCA2649035597F5c.3095del (p.Lys1032ArgfsTer20)
c.3110del (p.Lys1037ArgfsTer20)
c.2684del (p.Lys895ArgfsTer20)
 gnomAD v4
1g.169541996T>ACA343119295F5c.3094A>T (p.Lys1032Ter)
c.3109A>T (p.Lys1037Ter)
c.2683A>T (p.Lys895Ter)
1g.169541996T>CCA343119296F5c.3094A>G (p.Lys1032Glu)
c.3109A>G (p.Lys1037Glu)
c.2683A>G (p.Lys895Glu)
1g.169541996T>GCA343119297F5c.3094A>C (p.Lys1032Gln)
c.3109A>C (p.Lys1037Gln)
c.2683A>C (p.Lys895Gln)
1g.169541997T>ACA343119299F5c.3093A>T (p.Lys1031Asn)
c.3108A>T (p.Lys1036Asn)
c.2682A>T (p.Lys894Asn)
1g.169541997T>CCA421930764F5c.3093A>G (p.Lys1031=)
c.3108A>G (p.Lys1036=)
c.2682A>G (p.Lys894=)
1g.169541997T>GCA343119298F5c.3093A>C (p.Lys1031Asn)
c.3108A>C (p.Lys1036Asn)
c.2682A>C (p.Lys894Asn)
1g.169541998_169542005delCA2649035601F5c.3086_3093del (p.Thr1029LysfsTer23)
c.3101_3108del (p.Thr1034LysfsTer23)
c.2675_2682del (p.Thr892LysfsTer23)
 gnomAD v4
1g.169541998T>ACA343119300F5c.3092A>T (p.Lys1031Ile)
c.3107A>T (p.Lys1036Ile)
c.2681A>T (p.Lys894Ile)
1g.169541998T>CCA1233975F5c.3092A>G (p.Lys1031Arg)
c.3107A>G (p.Lys1036Arg)
c.2681A>G (p.Lys894Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541998T>GCA343119301F5c.3092A>C (p.Lys1031Thr)
c.3107A>C (p.Lys1036Thr)
c.2681A>C (p.Lys894Thr)
1g.169541998T=CA1206132590F5c.3092A= (p.Lys1031=)
c.3107A= (p.Lys1036=)
c.2681A= (p.Lys894=)
1g.169541999T>ACA343119302F5c.3091A>T (p.Lys1031Ter)
c.3106A>T (p.Lys1036Ter)
c.2680A>T (p.Lys894Ter)
1g.169541999T>CCA343119303F5c.3091A>G (p.Lys1031Glu)
c.3106A>G (p.Lys1036Glu)
c.2680A>G (p.Lys894Glu)
 dbSNP
1g.169541999T>GCA343119304F5c.3091A>C (p.Lys1031Gln)
c.3106A>C (p.Lys1036Gln)
c.2680A>C (p.Lys894Gln)
1g.169541999T=CA1206132592F5c.3091A= (p.Lys1031=)
c.3106A= (p.Lys1036=)
c.2680A= (p.Lys894=)
1g.169542000T>ACA421930768F5c.3090A>T (p.Arg1030=)
c.3105A>T (p.Arg1035=)
c.2679A>T (p.Arg893=)
1g.169542000T>CCA421930769F5c.3090A>G (p.Arg1030=)
c.3105A>G (p.Arg1035=)
c.2679A>G (p.Arg893=)
1g.169542000T>GCA421930770F5c.3090A>C (p.Arg1030=)
c.3105A>C (p.Arg1035=)
c.2679A>C (p.Arg893=)
1g.169542001C>ACA343119305F5c.3089G>T (p.Arg1030Leu)
c.3104G>T (p.Arg1035Leu)
c.2678G>T (p.Arg893Leu)
 gnomAD v4
1g.169542001C=CA1206132595F5c.3089G= (p.Arg1030=)
c.3104G= (p.Arg1035=)
c.2678G= (p.Arg893=)
1g.169542001C>GCA343119306F5c.3089G>C (p.Arg1030Pro)
c.3104G>C (p.Arg1035Pro)
c.2678G>C (p.Arg893Pro)
1g.169542001C>TCA1233976F5c.3089G>A (p.Arg1030Gln)
c.3104G>A (p.Arg1035Gln)
c.2678G>A (p.Arg893Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169542002G>ACA1233977F5c.3088C>T (p.Arg1030Ter)
c.3103C>T (p.Arg1035Ter)
c.2677C>T (p.Arg893Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169542002G>CCA343119307F5c.3088C>G (p.Arg1030Gly)
c.3103C>G (p.Arg1035Gly)
c.2677C>G (p.Arg893Gly)
1g.169542002G=CA1206132598F5c.3088C= (p.Arg1030=)
c.3103C= (p.Arg1035=)
c.2677C= (p.Arg893=)
1g.169542002G>TCA421930772F5c.3088C>A (p.Arg1030=)
c.3103C>A (p.Arg1035=)
c.2677C>A (p.Arg893=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169542003T>ACA421930774F5c.3087A>T (p.Thr1029=)
c.3102A>T (p.Thr1034=)
c.2676A>T (p.Thr892=)
1g.169542003T>CCA421930775F5c.3087A>G (p.Thr1029=)
c.3102A>G (p.Thr1034=)
c.2676A>G (p.Thr892=)
 ClinVar
1g.169542003T>GCA421930776F5c.3087A>C (p.Thr1029=)
c.3102A>C (p.Thr1034=)
c.2676A>C (p.Thr892=)
1g.169542004G>ACA343119308F5c.3086C>T (p.Thr1029Ile)
c.3101C>T (p.Thr1034Ile)
c.2675C>T (p.Thr892Ile)
1g.169542004G>CCA343119309F5c.3086C>G (p.Thr1029Arg)
c.3101C>G (p.Thr1034Arg)
c.2675C>G (p.Thr892Arg)
1g.169542004G=CA1206132601F5c.3086C= (p.Thr1029=)
c.3101C= (p.Thr1034=)
c.2675C= (p.Thr892=)
1g.169542004G>TCA343119310F5c.3086C>A (p.Thr1029Lys)
c.3101C>A (p.Thr1034Lys)
c.2675C>A (p.Thr892Lys)
 dbSNP gnomAD v2
1g.169542005T>ACA343119311F5c.3085A>T (p.Thr1029Ser)
c.3100A>T (p.Thr1034Ser)
c.2674A>T (p.Thr892Ser)
1g.169542005T>CCA343119312F5c.3085A>G (p.Thr1029Ala)
c.3100A>G (p.Thr1034Ala)
c.2674A>G (p.Thr892Ala)
1g.169542005T>GCA343119313F5c.3085A>C (p.Thr1029Pro)
c.3100A>C (p.Thr1034Pro)
c.2674A>C (p.Thr892Pro)
1g.169542006C>ACA343119314F5c.3084G>T (p.Lys1028Asn)
c.3099G>T (p.Lys1033Asn)
c.2673G>T (p.Lys891Asn)
 gnomAD v4
1g.169542006C>GCA343119315F5c.3084G>C (p.Lys1028Asn)
c.3099G>C (p.Lys1033Asn)
c.2673G>C (p.Lys891Asn)
1g.169542006C>TCA421930778F5c.3084G>A (p.Lys1028=)
c.3099G>A (p.Lys1033=)
c.2673G>A (p.Lys891=)
 ClinVar
1g.169542007T>ACA343119316F5c.3083A>T (p.Lys1028Met)
c.3098A>T (p.Lys1033Met)
c.2672A>T (p.Lys891Met)
1g.169542007T>CCA343119317F5c.3083A>G (p.Lys1028Arg)
c.3098A>G (p.Lys1033Arg)
c.2672A>G (p.Lys891Arg)
1g.169542007T>GCA343119318F5c.3083A>C (p.Lys1028Thr)
c.3098A>C (p.Lys1033Thr)
c.2672A>C (p.Lys891Thr)
1g.169542008T>ACA343119321F5c.3082A>T (p.Lys1028Ter)
c.3097A>T (p.Lys1033Ter)
c.2671A>T (p.Lys891Ter)
1g.169542008T>CCA343119320F5c.3082A>G (p.Lys1028Glu)
c.3097A>G (p.Lys1033Glu)
c.2671A>G (p.Lys891Glu)
1g.169542008T>GCA343119319F5c.3082A>C (p.Lys1028Gln)
c.3097A>C (p.Lys1033Gln)
c.2671A>C (p.Lys891Gln)
1g.169542009A=CA1206132605F5c.3081T= (p.Ile1027=)
c.3096T= (p.Ile1032=)
c.2670T= (p.Ile890=)
1g.169542009A>CCA343119322F5c.3081T>G (p.Ile1027Met)
c.3096T>G (p.Ile1032Met)
c.2670T>G (p.Ile890Met)
 gnomAD v4
1g.169542009A>GCA421930781F5c.3081T>C (p.Ile1027=)
c.3096T>C (p.Ile1032=)
c.2670T>C (p.Ile890=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169542009A>TCA421930782F5c.3081T>A (p.Ile1027=)
c.3096T>A (p.Ile1032=)
c.2670T>A (p.Ile890=)
1g.169542010A>CCA343119323F5c.3080T>G (p.Ile1027Ser)
c.3095T>G (p.Ile1032Ser)
c.2669T>G (p.Ile890Ser)
1g.169542010A>GCA343119324F5c.3080T>C (p.Ile1027Thr)
c.3095T>C (p.Ile1032Thr)
c.2669T>C (p.Ile890Thr)
1g.169542010A>TCA343119325F5c.3080T>A (p.Ile1027Asn)
c.3095T>A (p.Ile1032Asn)
c.2669T>A (p.Ile890Asn)
1g.169542011T>ACA343119326F5c.3079A>T (p.Ile1027Phe)
c.3094A>T (p.Ile1032Phe)
c.2668A>T (p.Ile890Phe)
1g.169542011T>CCA343119327F5c.3079A>G (p.Ile1027Val)
c.3094A>G (p.Ile1032Val)
c.2668A>G (p.Ile890Val)
 gnomAD v4
1g.169542011T>GCA343119328F5c.3079A>C (p.Ile1027Leu)
c.3094A>C (p.Ile1032Leu)
c.2668A>C (p.Ile890Leu)
 gnomAD v4
1g.169542012G>ACA421930783F5c.3078C>T (p.Leu1026=)
c.3093C>T (p.Leu1031=)
c.2667C>T (p.Leu889=)
 dbSNP gnomAD v3 gnomAD v4
1g.169542012G>CCA421930785F5c.3078C>G (p.Leu1026=)
c.3093C>G (p.Leu1031=)
c.2667C>G (p.Leu889=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169542012G=CA1206132607F5c.3078C= (p.Leu1026=)
c.3093C= (p.Leu1031=)
c.2667C= (p.Leu889=)
1g.169542012G>TCA421930786F5c.3078C>A (p.Leu1026=)
c.3093C>A (p.Leu1031=)
c.2667C>A (p.Leu889=)
1g.169542013A>CCA343119329F5c.3077T>G (p.Leu1026Arg)
c.3092T>G (p.Leu1031Arg)
c.2666T>G (p.Leu889Arg)
1g.169542013A>GCA343119330F5c.3077T>C (p.Leu1026Pro)
c.3092T>C (p.Leu1031Pro)
c.2666T>C (p.Leu889Pro)
1g.169542013A>TCA343119331F5c.3077T>A (p.Leu1026His)
c.3092T>A (p.Leu1031His)
c.2666T>A (p.Leu889His)
1g.169542014G>ACA343119332F5c.3076C>T (p.Leu1026Phe)
c.3091C>T (p.Leu1031Phe)
c.2665C>T (p.Leu889Phe)
1g.169542014G>CCA343119333F5c.3076C>G (p.Leu1026Val)
c.3091C>G (p.Leu1031Val)
c.2665C>G (p.Leu889Val)
1g.169542014G>TCA343119334F5c.3076C>A (p.Leu1026Ile)
c.3091C>A (p.Leu1031Ile)
c.2665C>A (p.Leu889Ile)
 COSMIC
1g.169542015A=CA1206132610F5c.3075T= (p.Phe1025=)
c.3090T= (p.Phe1030=)
c.2664T= (p.Phe888=)
1g.169542015A>CCA343119336F5c.3075T>G (p.Phe1025Leu)
c.3090T>G (p.Phe1030Leu)
c.2664T>G (p.Phe888Leu)
1g.169542015A>GCA421930790F5c.3075T>C (p.Phe1025=)
c.3090T>C (p.Phe1030=)
c.2664T>C (p.Phe888=)
 dbSNP gnomAD v2 gnomAD v4
1g.169542015A>TCA343119335F5c.3075T>A (p.Phe1025Leu)
c.3090T>A (p.Phe1030Leu)
c.2664T>A (p.Phe888Leu)
 dbSNP
1g.169542016A>CCA343119337F5c.3074T>G (p.Phe1025Cys)
c.3089T>G (p.Phe1030Cys)
c.2663T>G (p.Phe888Cys)
1g.169542016A>GCA343119338F5c.3074T>C (p.Phe1025Ser)
c.3089T>C (p.Phe1030Ser)
c.2663T>C (p.Phe888Ser)
1g.169542016A>TCA343119339F5c.3074T>A (p.Phe1025Tyr)
c.3089T>A (p.Phe1030Tyr)
c.2663T>A (p.Phe888Tyr)
1g.169542017A>CCA343119340F5c.3073T>G (p.Phe1025Val)
c.3088T>G (p.Phe1030Val)
c.2662T>G (p.Phe888Val)
1g.169542017A>GCA343119341F5c.3073T>C (p.Phe1025Leu)
c.3088T>C (p.Phe1030Leu)
c.2662T>C (p.Phe888Leu)
 COSMIC
1g.169542017A>TCA343119342F5c.3073T>A (p.Phe1025Ile)
c.3088T>A (p.Phe1030Ile)
c.2662T>A (p.Phe888Ile)
1g.169542018C>ACA343119343F5c.3072G>T (p.Gln1024His)
c.3087G>T (p.Gln1029His)
c.2661G>T (p.Gln887His)
1g.169542018C=CA1144162785F5c.3072G= (p.Gln1024=)
c.3087G= (p.Gln1029=)
c.2661G= (p.Gln887=)
1g.169542018C>GCA343119344F5c.3072G>C (p.Gln1024His)
c.3087G>C (p.Gln1029His)
c.2661G>C (p.Gln887His)
 gnomAD v4
1g.169542018C>TCA1233978F5c.3072G>A (p.Gln1024=)
c.3087G>A (p.Gln1029=)
c.2661G>A (p.Gln887=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169542019T>ACA343119345F5c.3071A>T (p.Gln1024Leu)
c.3086A>T (p.Gln1029Leu)
c.2660A>T (p.Gln887Leu)
1g.169542019T>CCA343119346F5c.3071A>G (p.Gln1024Arg)
c.3086A>G (p.Gln1029Arg)
c.2660A>G (p.Gln887Arg)
1g.169542019T>GCA1233979F5c.3071A>C (p.Gln1024Pro)
c.3086A>C (p.Gln1029Pro)
c.2660A>C (p.Gln887Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169542019T=CA1206132614F5c.3071A= (p.Gln1024=)
c.3086A= (p.Gln1029=)
c.2660A= (p.Gln887=)
1g.169542020G>ACA343119348F5c.3070C>T (p.Gln1024Ter)
c.3085C>T (p.Gln1029Ter)
c.2659C>T (p.Gln887Ter)
1g.169542020G>CCA343119349F5c.3070C>G (p.Gln1024Glu)
c.3085C>G (p.Gln1029Glu)
c.2659C>G (p.Gln887Glu)
 dbSNP
1g.169542020G=CA1206132616F5c.3070C= (p.Gln1024=)
c.3085C= (p.Gln1029=)
c.2659C= (p.Gln887=)
1g.169542020G>TCA343119347F5c.3070C>A (p.Gln1024Lys)
c.3085C>A (p.Gln1029Lys)
c.2659C>A (p.Gln887Lys)
 gnomAD v4
1g.169542021G>ACA421930824F5c.3069C>T (p.Ser1023=)
c.3084C>T (p.Ser1028=)
c.2658C>T (p.Ser886=)
 COSMIC
1g.169542021G>CCA343119350F5c.3069C>G (p.Ser1023Arg)
c.3084C>G (p.Ser1028Arg)
c.2658C>G (p.Ser886Arg)
1g.169542021G>TCA343119351F5c.3069C>A (p.Ser1023Arg)
c.3084C>A (p.Ser1028Arg)
c.2658C>A (p.Ser886Arg)
1g.169542022C>ACA343119352F5c.3068G>T (p.Ser1023Ile)
c.3083G>T (p.Ser1028Ile)
c.2657G>T (p.Ser886Ile)
1g.169542022C=CA1206132617F5c.3068G= (p.Ser1023=)
c.3083G= (p.Ser1028=)
c.2657G= (p.Ser886=)
1g.169542022C>GCA343119353F5c.3068G>C (p.Ser1023Thr)
c.3083G>C (p.Ser1028Thr)
c.2657G>C (p.Ser886Thr)
1g.169542022C>TCA32385409F5c.3068G>A (p.Ser1023Asn)
c.3083G>A (p.Ser1028Asn)
c.2657G>A (p.Ser886Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169542023T>ACA343119356F5c.3067A>T (p.Ser1023Cys)
c.3082A>T (p.Ser1028Cys)
c.2656A>T (p.Ser886Cys)
1g.169542023T>CCA343119354F5c.3067A>G (p.Ser1023Gly)
c.3082A>G (p.Ser1028Gly)
c.2656A>G (p.Ser886Gly)
1g.169542023T>GCA343119355F5c.3067A>C (p.Ser1023Arg)
c.3082A>C (p.Ser1028Arg)
c.2656A>C (p.Ser886Arg)
1g.169542024T>ACA343119357F5c.3066A>T (p.Lys1022Asn)
c.3081A>T (p.Lys1027Asn)
c.2655A>T (p.Lys885Asn)
1g.169542024T>CCA421930825F5c.3066A>G (p.Lys1022=)
c.3081A>G (p.Lys1027=)
c.2655A>G (p.Lys885=)
1g.169542024T>GCA343119358F5c.3066A>C (p.Lys1022Asn)
c.3081A>C (p.Lys1027Asn)
c.2655A>C (p.Lys885Asn)
1g.169542025T>ACA343119359F5c.3065A>T (p.Lys1022Ile)
c.3080A>T (p.Lys1027Ile)
c.2654A>T (p.Lys885Ile)
1g.169542025T>CCA343119360F5c.3065A>G (p.Lys1022Arg)
c.3080A>G (p.Lys1027Arg)
c.2654A>G (p.Lys885Arg)
1g.169542025T>GCA343119361F5c.3065A>C (p.Lys1022Thr)
c.3080A>C (p.Lys1027Thr)
c.2654A>C (p.Lys885Thr)
 ClinVar dbSNP
1g.169542025T=CA1206132620F5c.3065A= (p.Lys1022=)
c.3080A= (p.Lys1027=)
c.2654A= (p.Lys885=)
1g.169542026T>ACA343119362F5c.3064A>T (p.Lys1022Ter)
c.3079A>T (p.Lys1027Ter)
c.2653A>T (p.Lys885Ter)
1g.169542026T>CCA343119364F5c.3064A>G (p.Lys1022Glu)
c.3079A>G (p.Lys1027Glu)
c.2653A>G (p.Lys885Glu)
1g.169542026T>GCA343119363F5c.3064A>C (p.Lys1022Gln)
c.3079A>C (p.Lys1027Gln)
c.2653A>C (p.Lys885Gln)
1g.169542027C>ACA343119365F5c.3063G>T (p.Lys1021Asn)
c.3078G>T (p.Lys1026Asn)
c.2652G>T (p.Lys884Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.169542027C=CA1206132623F5c.3063G= (p.Lys1021=)
c.3078G= (p.Lys1026=)
c.2652G= (p.Lys884=)
1g.169542027C>GCA343119366F5c.3063G>C (p.Lys1021Asn)
c.3078G>C (p.Lys1026Asn)
c.2652G>C (p.Lys884Asn)
1g.169542027C>TCA421930826F5c.3063G>A (p.Lys1021=)
c.3078G>A (p.Lys1026=)
c.2652G>A (p.Lys884=)

Number of alleles fetched