Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53241815C>ACA413148929IQSEC2c.3143G>T (p.Arg1048Leu)
c.936G>T
c.445G>T
c.274G>T
c.47G>T (p.Arg16Leu)
c.2984G>T (p.Arg995Leu)
n.1291G>T
c.2954G>T (p.Arg985Leu)
c.2369G>T (p.Arg790Leu)
c.3080G>T (p.Arg1027Leu)
c.2306G>T (p.Arg769Leu)
c.2273G>T (p.Arg758Leu)
n.3307G>T
c.2486G>T (p.Arg829Leu)
n.3301G>T
Xg.53241815C=CA2429772808IQSEC2c.3143G= (p.Arg1048=)
c.936G=
c.445G=
c.274G=
c.47G= (p.Arg16=)
c.2984G= (p.Arg995=)
n.1291G=
c.2954G= (p.Arg985=)
c.2369G= (p.Arg790=)
c.3080G= (p.Arg1027=)
c.2306G= (p.Arg769=)
c.2273G= (p.Arg758=)
n.3307G=
c.2486G= (p.Arg829=)
n.3301G=
Xg.53241815C>GCA413148933IQSEC2c.3143G>C (p.Arg1048Pro)
c.936G>C
c.445G>C
c.274G>C
c.47G>C (p.Arg16Pro)
c.2984G>C (p.Arg995Pro)
n.1291G>C
c.2954G>C (p.Arg985Pro)
c.2369G>C (p.Arg790Pro)
c.3080G>C (p.Arg1027Pro)
c.2306G>C (p.Arg769Pro)
c.2273G>C (p.Arg758Pro)
n.3307G>C
c.2486G>C (p.Arg829Pro)
n.3301G>C
 ClinVar
Xg.53241815C>TCA10603495IQSEC2c.3143G>A (p.Arg1048Gln)
c.936G>A
c.445G>A
c.274G>A
c.47G>A (p.Arg16Gln)
c.2984G>A (p.Arg995Gln)
n.1291G>A
c.2954G>A (p.Arg985Gln)
c.2369G>A (p.Arg790Gln)
c.3080G>A (p.Arg1027Gln)
c.2306G>A (p.Arg769Gln)
c.2273G>A (p.Arg758Gln)
n.3307G>A
c.2486G>A (p.Arg829Gln)
n.3301G>A
 ClinVar dbSNP
Xg.53241815_53241816delinsCGCA2429772809IQSEC2c.3142_3143delinsCG (p.Arg1048=)
c.935_936delinsCG
c.444_445delinsCG
c.273_274delinsCG
c.46_47delinsCG (p.Arg16=)
c.2983_2984delinsCG (p.Arg995=)
n.1290_1291delinsCG
c.2953_2954delinsCG (p.Arg985=)
c.2368_2369delinsCG (p.Arg790=)
c.3079_3080delinsCG (p.Arg1027=)
c.2305_2306delinsCG (p.Arg769=)
c.2272_2273delinsCG (p.Arg758=)
n.3306_3307delinsCG
c.2485_2486delinsCG (p.Arg829=)
n.3300_3301delinsCG
Xg.53241816delCA915951125IQSEC2c.3142del (p.Arg1048GlyfsTer23)
c.935del
c.444del
c.273del
c.46del (p.Arg16GlyfsTer23)
c.2983del (p.Arg995GlyfsTer23)
n.1290del
c.2953del (p.Arg985GlyfsTer23)
c.2368del (p.Arg790GlyfsTer23)
c.3079del (p.Arg1027GlyfsTer23)
c.2305del (p.Arg769GlyfsTer23)
c.2272del (p.Arg758GlyfsTer23)
n.3306del
c.2485del (p.Arg829GlyfsTer23)
n.3300del
 ClinVar dbSNP
Xg.53241816G>ACA501123IQSEC2c.3142C>T (p.Arg1048Trp)
c.935C>T
c.444C>T
c.273C>T
c.46C>T (p.Arg16Trp)
c.2983C>T (p.Arg995Trp)
n.1290C>T
c.2953C>T (p.Arg985Trp)
c.2368C>T (p.Arg790Trp)
c.3079C>T (p.Arg1027Trp)
c.2305C>T (p.Arg769Trp)
c.2272C>T (p.Arg758Trp)
n.3306C>T
c.2485C>T (p.Arg829Trp)
n.3300C>T
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.53241816G>CCA413148941IQSEC2c.3142C>G (p.Arg1048Gly)
c.935C>G
c.444C>G
c.273C>G
c.46C>G (p.Arg16Gly)
c.2983C>G (p.Arg995Gly)
n.1290C>G
c.2953C>G (p.Arg985Gly)
c.2368C>G (p.Arg790Gly)
c.3079C>G (p.Arg1027Gly)
c.2305C>G (p.Arg769Gly)
c.2272C>G (p.Arg758Gly)
n.3306C>G
c.2485C>G (p.Arg829Gly)
n.3300C>G
Xg.53241816G=CA2429772810IQSEC2c.3142C= (p.Arg1048=)
c.935C=
c.444C=
c.273C=
c.46C= (p.Arg16=)
c.2983C= (p.Arg995=)
n.1290C=
c.2953C= (p.Arg985=)
c.2368C= (p.Arg790=)
c.3079C= (p.Arg1027=)
c.2305C= (p.Arg769=)
c.2272C= (p.Arg758=)
n.3306C=
c.2485C= (p.Arg829=)
n.3300C=
Xg.53241816G>TCA516424711IQSEC2c.3142C>A (p.Arg1048=)
c.935C>A
c.444C>A
c.273C>A
c.46C>A (p.Arg16=)
c.2983C>A (p.Arg995=)
n.1290C>A
c.2953C>A (p.Arg985=)
c.2368C>A (p.Arg790=)
c.3079C>A (p.Arg1027=)
c.2305C>A (p.Arg769=)
c.2272C>A (p.Arg758=)
n.3306C>A
c.2485C>A (p.Arg829=)
n.3300C>A
Xg.53241817C>ACA413148948IQSEC2c.3141G>T (p.Gln1047His)
c.934G>T
c.443G>T
c.272G>T
c.45G>T (p.Gln15His)
c.2982G>T (p.Gln994His)
n.1289G>T
c.2952G>T (p.Gln984His)
c.2367G>T (p.Gln789His)
c.3078G>T (p.Gln1026His)
c.2304G>T (p.Gln768His)
c.2271G>T (p.Gln757His)
n.3305G>T
c.2484G>T (p.Gln828His)
n.3299G>T
Xg.53241817C>GCA413148965IQSEC2c.3141G>C (p.Gln1047His)
c.934G>C
c.443G>C
c.272G>C
c.45G>C (p.Gln15His)
c.2982G>C (p.Gln994His)
n.1289G>C
c.2952G>C (p.Gln984His)
c.2367G>C (p.Gln789His)
c.3078G>C (p.Gln1026His)
c.2304G>C (p.Gln768His)
c.2271G>C (p.Gln757His)
n.3305G>C
c.2484G>C (p.Gln828His)
n.3299G>C
Xg.53241817C>TCA516424718IQSEC2c.3141G>A (p.Gln1047=)
c.934G>A
c.443G>A
c.272G>A
c.45G>A (p.Gln15=)
c.2982G>A (p.Gln994=)
n.1289G>A
c.2952G>A (p.Gln984=)
c.2367G>A (p.Gln789=)
c.3078G>A (p.Gln1026=)
c.2304G>A (p.Gln768=)
c.2271G>A (p.Gln757=)
n.3305G>A
c.2484G>A (p.Gln828=)
n.3299G>A
Xg.53241818T>ACA413148972IQSEC2c.3140A>T (p.Gln1047Leu)
c.933A>T
c.442A>T
c.271A>T
c.44A>T (p.Gln15Leu)
c.2981A>T (p.Gln994Leu)
n.1288A>T
c.2951A>T (p.Gln984Leu)
c.2366A>T (p.Gln789Leu)
c.3077A>T (p.Gln1026Leu)
c.2303A>T (p.Gln768Leu)
c.2270A>T (p.Gln757Leu)
n.3304A>T
c.2483A>T (p.Gln828Leu)
n.3298A>T
Xg.53241818T>CCA413148989IQSEC2c.3140A>G (p.Gln1047Arg)
c.933A>G
c.442A>G
c.271A>G
c.44A>G (p.Gln15Arg)
c.2981A>G (p.Gln994Arg)
n.1288A>G
c.2951A>G (p.Gln984Arg)
c.2366A>G (p.Gln789Arg)
c.3077A>G (p.Gln1026Arg)
c.2303A>G (p.Gln768Arg)
c.2270A>G (p.Gln757Arg)
n.3304A>G
c.2483A>G (p.Gln828Arg)
n.3298A>G
 gnomAD v4
Xg.53241818T>GCA413148993IQSEC2c.3140A>C (p.Gln1047Pro)
c.933A>C
c.442A>C
c.271A>C
c.44A>C (p.Gln15Pro)
c.2981A>C (p.Gln994Pro)
n.1288A>C
c.2951A>C (p.Gln984Pro)
c.2366A>C (p.Gln789Pro)
c.3077A>C (p.Gln1026Pro)
c.2303A>C (p.Gln768Pro)
c.2270A>C (p.Gln757Pro)
n.3304A>C
c.2483A>C (p.Gln828Pro)
n.3298A>C
Xg.53241819G>ACA413149011IQSEC2c.3139C>T (p.Gln1047Ter)
c.932C>T
c.441C>T
c.270C>T
c.43C>T (p.Gln15Ter)
c.2980C>T (p.Gln994Ter)
n.1287C>T
c.2950C>T (p.Gln984Ter)
c.2365C>T (p.Gln789Ter)
c.3076C>T (p.Gln1026Ter)
c.2302C>T (p.Gln768Ter)
c.2269C>T (p.Gln757Ter)
n.3303C>T
c.2482C>T (p.Gln828Ter)
n.3297C>T
Xg.53241819G>CCA413149001IQSEC2c.3139C>G (p.Gln1047Glu)
c.932C>G
c.441C>G
c.270C>G
c.43C>G (p.Gln15Glu)
c.2980C>G (p.Gln994Glu)
n.1287C>G
c.2950C>G (p.Gln984Glu)
c.2365C>G (p.Gln789Glu)
c.3076C>G (p.Gln1026Glu)
c.2302C>G (p.Gln768Glu)
c.2269C>G (p.Gln757Glu)
n.3303C>G
c.2482C>G (p.Gln828Glu)
n.3297C>G
Xg.53241819G>TCA413149008IQSEC2c.3139C>A (p.Gln1047Lys)
c.932C>A
c.441C>A
c.270C>A
c.43C>A (p.Gln15Lys)
c.2980C>A (p.Gln994Lys)
n.1287C>A
c.2950C>A (p.Gln984Lys)
c.2365C>A (p.Gln789Lys)
c.3076C>A (p.Gln1026Lys)
c.2302C>A (p.Gln768Lys)
c.2269C>A (p.Gln757Lys)
n.3303C>A
c.2482C>A (p.Gln828Lys)
n.3297C>A
Xg.53241820A>CCA413149012IQSEC2c.3138T>G (p.His1046Gln)
c.931T>G
c.440T>G
c.269T>G
c.42T>G (p.His14Gln)
c.2979T>G (p.His993Gln)
n.1286T>G
c.2949T>G (p.His983Gln)
c.2364T>G (p.His788Gln)
c.3075T>G (p.His1025Gln)
c.2301T>G (p.His767Gln)
c.2268T>G (p.His756Gln)
n.3302T>G
c.2481T>G (p.His827Gln)
n.3296T>G
 ClinVar dbSNP
Xg.53241820A>GCA516424743IQSEC2c.3138T>C (p.His1046=)
c.931T>C
c.440T>C
c.269T>C
c.42T>C (p.His14=)
c.2979T>C (p.His993=)
n.1286T>C
c.2949T>C (p.His983=)
c.2364T>C (p.His788=)
c.3075T>C (p.His1025=)
c.2301T>C (p.His767=)
c.2268T>C (p.His756=)
n.3302T>C
c.2481T>C (p.His827=)
n.3296T>C
Xg.53241820A>TCA413149013IQSEC2c.3138T>A (p.His1046Gln)
c.931T>A
c.440T>A
c.269T>A
c.42T>A (p.His14Gln)
c.2979T>A (p.His993Gln)
n.1286T>A
c.2949T>A (p.His983Gln)
c.2364T>A (p.His788Gln)
c.3075T>A (p.His1025Gln)
c.2301T>A (p.His767Gln)
c.2268T>A (p.His756Gln)
n.3302T>A
c.2481T>A (p.His827Gln)
n.3296T>A
Xg.53241821T>ACA413149016IQSEC2c.3137A>T (p.His1046Leu)
c.930A>T
c.439A>T
c.268A>T
c.41A>T (p.His14Leu)
c.2978A>T (p.His993Leu)
n.1285A>T
c.2948A>T (p.His983Leu)
c.2363A>T (p.His788Leu)
c.3074A>T (p.His1025Leu)
c.2300A>T (p.His767Leu)
c.2267A>T (p.His756Leu)
n.3301A>T
c.2480A>T (p.His827Leu)
n.3295A>T
Xg.53241821T>CCA413149017IQSEC2c.3137A>G (p.His1046Arg)
c.930A>G
c.439A>G
c.268A>G
c.41A>G (p.His14Arg)
c.2978A>G (p.His993Arg)
n.1285A>G
c.2948A>G (p.His983Arg)
c.2363A>G (p.His788Arg)
c.3074A>G (p.His1025Arg)
c.2300A>G (p.His767Arg)
c.2267A>G (p.His756Arg)
n.3301A>G
c.2480A>G (p.His827Arg)
n.3295A>G
Xg.53241821T>GCA413149018IQSEC2c.3137A>C (p.His1046Pro)
c.930A>C
c.439A>C
c.268A>C
c.41A>C (p.His14Pro)
c.2978A>C (p.His993Pro)
n.1285A>C
c.2948A>C (p.His983Pro)
c.2363A>C (p.His788Pro)
c.3074A>C (p.His1025Pro)
c.2300A>C (p.His767Pro)
c.2267A>C (p.His756Pro)
n.3301A>C
c.2480A>C (p.His827Pro)
n.3295A>C
Xg.53241822G>ACA413149023IQSEC2c.3136C>T (p.His1046Tyr)
c.929C>T
c.438C>T
c.267C>T
c.40C>T (p.His14Tyr)
c.2977C>T (p.His993Tyr)
n.1284C>T
c.2947C>T (p.His983Tyr)
c.2362C>T (p.His788Tyr)
c.3073C>T (p.His1025Tyr)
c.2299C>T (p.His767Tyr)
c.2266C>T (p.His756Tyr)
n.3300C>T
c.2479C>T (p.His827Tyr)
n.3294C>T
 ClinVar
Xg.53241822G>CCA413149026IQSEC2c.3136C>G (p.His1046Asp)
c.929C>G
c.438C>G
c.267C>G
c.40C>G (p.His14Asp)
c.2977C>G (p.His993Asp)
n.1284C>G
c.2947C>G (p.His983Asp)
c.2362C>G (p.His788Asp)
c.3073C>G (p.His1025Asp)
c.2299C>G (p.His767Asp)
c.2266C>G (p.His756Asp)
n.3300C>G
c.2479C>G (p.His827Asp)
n.3294C>G
Xg.53241822G>TCA413149031IQSEC2c.3136C>A (p.His1046Asn)
c.929C>A
c.438C>A
c.267C>A
c.40C>A (p.His14Asn)
c.2977C>A (p.His993Asn)
n.1284C>A
c.2947C>A (p.His983Asn)
c.2362C>A (p.His788Asn)
c.3073C>A (p.His1025Asn)
c.2299C>A (p.His767Asn)
c.2266C>A (p.His756Asn)
n.3300C>A
c.2479C>A (p.His827Asn)
n.3294C>A
Xg.53241823C>ACA413149037IQSEC2c.3135G>T (p.Leu1045Phe)
c.928G>T
c.437G>T
c.266G>T
c.39G>T (p.Leu13Phe)
c.2976G>T (p.Leu992Phe)
n.1283G>T
c.2946G>T (p.Leu982Phe)
c.2361G>T (p.Leu787Phe)
c.3072G>T (p.Leu1024Phe)
c.2298G>T (p.Leu766Phe)
c.2265G>T (p.Leu755Phe)
n.3299G>T
c.2478G>T (p.Leu826Phe)
n.3293G>T
Xg.53241823C>GCA413149047IQSEC2c.3135G>C (p.Leu1045Phe)
c.928G>C
c.437G>C
c.266G>C
c.39G>C (p.Leu13Phe)
c.2976G>C (p.Leu992Phe)
n.1283G>C
c.2946G>C (p.Leu982Phe)
c.2361G>C (p.Leu787Phe)
c.3072G>C (p.Leu1024Phe)
c.2298G>C (p.Leu766Phe)
c.2265G>C (p.Leu755Phe)
n.3299G>C
c.2478G>C (p.Leu826Phe)
n.3293G>C
Xg.53241823C>TCA516424764IQSEC2c.3135G>A (p.Leu1045=)
c.928G>A
c.437G>A
c.266G>A
c.39G>A (p.Leu13=)
c.2976G>A (p.Leu992=)
n.1283G>A
c.2946G>A (p.Leu982=)
c.2361G>A (p.Leu787=)
c.3072G>A (p.Leu1024=)
c.2298G>A (p.Leu766=)
c.2265G>A (p.Leu755=)
n.3299G>A
c.2478G>A (p.Leu826=)
n.3293G>A
Xg.53241824A=CA2429772811IQSEC2c.3134T= (p.Leu1045=)
c.927T=
c.436T=
c.265T=
c.38T= (p.Leu13=)
c.2975T= (p.Leu992=)
n.1282T=
c.2945T= (p.Leu982=)
c.2360T= (p.Leu787=)
c.3071T= (p.Leu1024=)
c.2297T= (p.Leu766=)
c.2264T= (p.Leu755=)
n.3298T=
c.2477T= (p.Leu826=)
n.3292T=
Xg.53241824A>CCA413149055IQSEC2c.3134T>G (p.Leu1045Trp)
c.927T>G
c.436T>G
c.265T>G
c.38T>G (p.Leu13Trp)
c.2975T>G (p.Leu992Trp)
n.1282T>G
c.2945T>G (p.Leu982Trp)
c.2360T>G (p.Leu787Trp)
c.3071T>G (p.Leu1024Trp)
c.2297T>G (p.Leu766Trp)
c.2264T>G (p.Leu755Trp)
n.3298T>G
c.2477T>G (p.Leu826Trp)
n.3292T>G
Xg.53241824A>GCA413149063IQSEC2c.3134T>C (p.Leu1045Ser)
c.927T>C
c.436T>C
c.265T>C
c.38T>C (p.Leu13Ser)
c.2975T>C (p.Leu992Ser)
n.1282T>C
c.2945T>C (p.Leu982Ser)
c.2360T>C (p.Leu787Ser)
c.3071T>C (p.Leu1024Ser)
c.2297T>C (p.Leu766Ser)
c.2264T>C (p.Leu755Ser)
n.3298T>C
c.2477T>C (p.Leu826Ser)
n.3292T>C
Xg.53241824A>TCA10419867IQSEC2c.3134T>A (p.Leu1045Ter)
c.927T>A
c.436T>A
c.265T>A
c.38T>A (p.Leu13Ter)
c.2975T>A (p.Leu992Ter)
n.1282T>A
c.2945T>A (p.Leu982Ter)
c.2360T>A (p.Leu787Ter)
c.3071T>A (p.Leu1024Ter)
c.2297T>A (p.Leu766Ter)
c.2264T>A (p.Leu755Ter)
n.3298T>A
c.2477T>A (p.Leu826Ter)
n.3292T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241825A>CCA413149068IQSEC2c.3133T>G (p.Leu1045Val)
c.926T>G
c.435T>G
c.264T>G
c.37T>G (p.Leu13Val)
c.2974T>G (p.Leu992Val)
n.1281T>G
c.2944T>G (p.Leu982Val)
c.2359T>G (p.Leu787Val)
c.3070T>G (p.Leu1024Val)
c.2296T>G (p.Leu766Val)
c.2263T>G (p.Leu755Val)
n.3297T>G
c.2476T>G (p.Leu826Val)
n.3291T>G
Xg.53241825A>GCA516424779IQSEC2c.3133T>C (p.Leu1045=)
c.926T>C
c.435T>C
c.264T>C
c.37T>C (p.Leu13=)
c.2974T>C (p.Leu992=)
n.1281T>C
c.2944T>C (p.Leu982=)
c.2359T>C (p.Leu787=)
c.3070T>C (p.Leu1024=)
c.2296T>C (p.Leu766=)
c.2263T>C (p.Leu755=)
n.3297T>C
c.2476T>C (p.Leu826=)
n.3291T>C
Xg.53241825A>TCA413149072IQSEC2c.3133T>A (p.Leu1045Met)
c.926T>A
c.435T>A
c.264T>A
c.37T>A (p.Leu13Met)
c.2974T>A (p.Leu992Met)
n.1281T>A
c.2944T>A (p.Leu982Met)
c.2359T>A (p.Leu787Met)
c.3070T>A (p.Leu1024Met)
c.2296T>A (p.Leu766Met)
c.2263T>A (p.Leu755Met)
n.3297T>A
c.2476T>A (p.Leu826Met)
n.3291T>A
Xg.53241826C>ACA516424785IQSEC2c.3132G>T (p.Gly1044=)
c.925G>T
c.434G>T
c.263G>T
c.36G>T (p.Gly12=)
c.2973G>T (p.Gly991=)
n.1280G>T
c.2943G>T (p.Gly981=)
c.2358G>T (p.Gly786=)
c.3069G>T (p.Gly1023=)
c.2295G>T (p.Gly765=)
c.2262G>T (p.Gly754=)
n.3296G>T
c.2475G>T (p.Gly825=)
n.3290G>T
Xg.53241826C>GCA516424789IQSEC2c.3132G>C (p.Gly1044=)
c.925G>C
c.434G>C
c.263G>C
c.36G>C (p.Gly12=)
c.2973G>C (p.Gly991=)
n.1280G>C
c.2943G>C (p.Gly981=)
c.2358G>C (p.Gly786=)
c.3069G>C (p.Gly1023=)
c.2295G>C (p.Gly765=)
c.2262G>C (p.Gly754=)
n.3296G>C
c.2475G>C (p.Gly825=)
n.3290G>C
Xg.53241826C>TCA516424790IQSEC2c.3132G>A (p.Gly1044=)
c.925G>A
c.434G>A
c.263G>A
c.36G>A (p.Gly12=)
c.2973G>A (p.Gly991=)
n.1280G>A
c.2943G>A (p.Gly981=)
c.2358G>A (p.Gly786=)
c.3069G>A (p.Gly1023=)
c.2295G>A (p.Gly765=)
c.2262G>A (p.Gly754=)
n.3296G>A
c.2475G>A (p.Gly825=)
n.3290G>A
Xg.53241827C>ACA413149082IQSEC2c.3131G>T (p.Gly1044Val)
c.924G>T
c.433G>T
c.262G>T
c.35G>T (p.Gly12Val)
c.2972G>T (p.Gly991Val)
n.1279G>T
c.2942G>T (p.Gly981Val)
c.2357G>T (p.Gly786Val)
c.3068G>T (p.Gly1023Val)
c.2294G>T (p.Gly765Val)
c.2261G>T (p.Gly754Val)
n.3295G>T
c.2474G>T (p.Gly825Val)
n.3289G>T
Xg.53241827C>GCA413149084IQSEC2c.3131G>C (p.Gly1044Ala)
c.924G>C
c.433G>C
c.262G>C
c.35G>C (p.Gly12Ala)
c.2972G>C (p.Gly991Ala)
n.1279G>C
c.2942G>C (p.Gly981Ala)
c.2357G>C (p.Gly786Ala)
c.3068G>C (p.Gly1023Ala)
c.2294G>C (p.Gly765Ala)
c.2261G>C (p.Gly754Ala)
n.3295G>C
c.2474G>C (p.Gly825Ala)
n.3289G>C
Xg.53241827C>TCA413149089IQSEC2c.3131G>A (p.Gly1044Glu)
c.924G>A
c.433G>A
c.262G>A
c.35G>A (p.Gly12Glu)
c.2972G>A (p.Gly991Glu)
n.1279G>A
c.2942G>A (p.Gly981Glu)
c.2357G>A (p.Gly786Glu)
c.3068G>A (p.Gly1023Glu)
c.2294G>A (p.Gly765Glu)
c.2261G>A (p.Gly754Glu)
n.3295G>A
c.2474G>A (p.Gly825Glu)
n.3289G>A
Xg.53241828C>ACA413149095IQSEC2c.3130G>T (p.Gly1044Trp)
c.923G>T
c.432G>T
c.261G>T
c.34G>T (p.Gly12Trp)
c.2971G>T (p.Gly991Trp)
n.1278G>T
c.2941G>T (p.Gly981Trp)
c.2356G>T (p.Gly786Trp)
c.3067G>T (p.Gly1023Trp)
c.2293G>T (p.Gly765Trp)
c.2260G>T (p.Gly754Trp)
n.3294G>T
c.2473G>T (p.Gly825Trp)
n.3288G>T
Xg.53241828C=CA2429772812IQSEC2c.3130G= (p.Gly1044=)
c.923G=
c.432G=
c.261G=
c.34G= (p.Gly12=)
c.2971G= (p.Gly991=)
n.1278G=
c.2941G= (p.Gly981=)
c.2356G= (p.Gly786=)
c.3067G= (p.Gly1023=)
c.2293G= (p.Gly765=)
c.2260G= (p.Gly754=)
n.3294G=
c.2473G= (p.Gly825=)
n.3288G=
Xg.53241828C>GCA10419868IQSEC2c.3130G>C (p.Gly1044Arg)
c.923G>C
c.432G>C
c.261G>C
c.34G>C (p.Gly12Arg)
c.2971G>C (p.Gly991Arg)
n.1278G>C
c.2941G>C (p.Gly981Arg)
c.2356G>C (p.Gly786Arg)
c.3067G>C (p.Gly1023Arg)
c.2293G>C (p.Gly765Arg)
c.2260G>C (p.Gly754Arg)
n.3294G>C
c.2473G>C (p.Gly825Arg)
n.3288G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241828C>TCA413149103IQSEC2c.3130G>A (p.Gly1044Arg)
c.923G>A
c.432G>A
c.261G>A
c.34G>A (p.Gly12Arg)
c.2971G>A (p.Gly991Arg)
n.1278G>A
c.2941G>A (p.Gly981Arg)
c.2356G>A (p.Gly786Arg)
c.3067G>A (p.Gly1023Arg)
c.2293G>A (p.Gly765Arg)
c.2260G>A (p.Gly754Arg)
n.3294G>A
c.2473G>A (p.Gly825Arg)
n.3288G>A
 dbSNP gnomAD v2
Xg.53241829T>ACA516424808IQSEC2c.3129A>T (p.Leu1043=)
c.922A>T
c.431A>T
c.260A>T
c.33A>T (p.Leu11=)
c.2970A>T (p.Leu990=)
n.1277A>T
c.2940A>T (p.Leu980=)
c.2355A>T (p.Leu785=)
c.3066A>T (p.Leu1022=)
c.2292A>T (p.Leu764=)
c.2259A>T (p.Leu753=)
n.3293A>T
c.2472A>T (p.Leu824=)
n.3287A>T
Xg.53241829T>CCA516424812IQSEC2c.3129A>G (p.Leu1043=)
c.922A>G
c.431A>G
c.260A>G
c.33A>G (p.Leu11=)
c.2970A>G (p.Leu990=)
n.1277A>G
c.2940A>G (p.Leu980=)
c.2355A>G (p.Leu785=)
c.3066A>G (p.Leu1022=)
c.2292A>G (p.Leu764=)
c.2259A>G (p.Leu753=)
n.3293A>G
c.2472A>G (p.Leu824=)
n.3287A>G
Xg.53241829T>GCA516424813IQSEC2c.3129A>C (p.Leu1043=)
c.922A>C
c.431A>C
c.260A>C
c.33A>C (p.Leu11=)
c.2970A>C (p.Leu990=)
n.1277A>C
c.2940A>C (p.Leu980=)
c.2355A>C (p.Leu785=)
c.3066A>C (p.Leu1022=)
c.2292A>C (p.Leu764=)
c.2259A>C (p.Leu753=)
n.3293A>C
c.2472A>C (p.Leu824=)
n.3287A>C
Xg.53241830A>CCA413149111IQSEC2c.3128T>G (p.Leu1043Arg)
c.921T>G
c.430T>G
c.259T>G
c.32T>G (p.Leu11Arg)
c.2969T>G (p.Leu990Arg)
n.1276T>G
c.2939T>G (p.Leu980Arg)
c.2354T>G (p.Leu785Arg)
c.3065T>G (p.Leu1022Arg)
c.2291T>G (p.Leu764Arg)
c.2258T>G (p.Leu753Arg)
n.3292T>G
c.2471T>G (p.Leu824Arg)
n.3286T>G
Xg.53241830A>GCA413149122IQSEC2c.3128T>C (p.Leu1043Pro)
c.921T>C
c.430T>C
c.259T>C
c.32T>C (p.Leu11Pro)
c.2969T>C (p.Leu990Pro)
n.1276T>C
c.2939T>C (p.Leu980Pro)
c.2354T>C (p.Leu785Pro)
c.3065T>C (p.Leu1022Pro)
c.2291T>C (p.Leu764Pro)
c.2258T>C (p.Leu753Pro)
n.3292T>C
c.2471T>C (p.Leu824Pro)
n.3286T>C
Xg.53241830A>TCA413149144IQSEC2c.3128T>A (p.Leu1043Gln)
c.921T>A
c.430T>A
c.259T>A
c.32T>A (p.Leu11Gln)
c.2969T>A (p.Leu990Gln)
n.1276T>A
c.2939T>A (p.Leu980Gln)
c.2354T>A (p.Leu785Gln)
c.3065T>A (p.Leu1022Gln)
c.2291T>A (p.Leu764Gln)
c.2258T>A (p.Leu753Gln)
n.3292T>A
c.2471T>A (p.Leu824Gln)
n.3286T>A
Xg.53241831G>ACA516424828IQSEC2c.3127C>T (p.Leu1043=)
c.920C>T
c.429C>T
c.258C>T
c.31C>T (p.Leu11=)
c.2968C>T (p.Leu990=)
n.1275C>T
c.2938C>T (p.Leu980=)
c.2353C>T (p.Leu785=)
c.3064C>T (p.Leu1022=)
c.2290C>T (p.Leu764=)
c.2257C>T (p.Leu753=)
n.3291C>T
c.2470C>T (p.Leu824=)
n.3285C>T
Xg.53241831G>CCA413149145IQSEC2c.3127C>G (p.Leu1043Val)
c.920C>G
c.429C>G
c.258C>G
c.31C>G (p.Leu11Val)
c.2968C>G (p.Leu990Val)
n.1275C>G
c.2938C>G (p.Leu980Val)
c.2353C>G (p.Leu785Val)
c.3064C>G (p.Leu1022Val)
c.2290C>G (p.Leu764Val)
c.2257C>G (p.Leu753Val)
n.3291C>G
c.2470C>G (p.Leu824Val)
n.3285C>G
Xg.53241831G>TCA413149146IQSEC2c.3127C>A (p.Leu1043Ile)
c.920C>A
c.429C>A
c.258C>A
c.31C>A (p.Leu11Ile)
c.2968C>A (p.Leu990Ile)
n.1275C>A
c.2938C>A (p.Leu980Ile)
c.2353C>A (p.Leu785Ile)
c.3064C>A (p.Leu1022Ile)
c.2290C>A (p.Leu764Ile)
c.2257C>A (p.Leu753Ile)
n.3291C>A
c.2470C>A (p.Leu824Ile)
n.3285C>A
Xg.53241832C>ACA413149148IQSEC2c.3126G>T (p.Arg1042Ser)
c.919G>T
c.428G>T
c.257G>T
c.30G>T (p.Arg10Ser)
c.2967G>T (p.Arg989Ser)
n.1274G>T
c.2937G>T (p.Arg979Ser)
c.2352G>T (p.Arg784Ser)
c.3063G>T (p.Arg1021Ser)
c.2289G>T (p.Arg763Ser)
c.2256G>T (p.Arg752Ser)
n.3290G>T
c.2469G>T (p.Arg823Ser)
n.3284G>T
Xg.53241832C>GCA413149152IQSEC2c.3126G>C (p.Arg1042Ser)
c.919G>C
c.428G>C
c.257G>C
c.30G>C (p.Arg10Ser)
c.2967G>C (p.Arg989Ser)
n.1274G>C
c.2937G>C (p.Arg979Ser)
c.2352G>C (p.Arg784Ser)
c.3063G>C (p.Arg1021Ser)
c.2289G>C (p.Arg763Ser)
c.2256G>C (p.Arg752Ser)
n.3290G>C
c.2469G>C (p.Arg823Ser)
n.3284G>C
Xg.53241832C>TCA516424841IQSEC2c.3126G>A (p.Arg1042=)
c.919G>A
c.428G>A
c.257G>A
c.30G>A (p.Arg10=)
c.2967G>A (p.Arg989=)
n.1274G>A
c.2937G>A (p.Arg979=)
c.2352G>A (p.Arg784=)
c.3063G>A (p.Arg1021=)
c.2289G>A (p.Arg763=)
c.2256G>A (p.Arg752=)
n.3290G>A
c.2469G>A (p.Arg823=)
n.3284G>A
Xg.53241833C>ACA413149156IQSEC2c.3125G>T (p.Arg1042Met)
c.918G>T
c.427G>T
c.256G>T
c.29G>T (p.Arg10Met)
c.2966G>T (p.Arg989Met)
n.1273G>T
c.2936G>T (p.Arg979Met)
c.2351G>T (p.Arg784Met)
c.3062G>T (p.Arg1021Met)
c.2288G>T (p.Arg763Met)
c.2255G>T (p.Arg752Met)
n.3289G>T
c.2468G>T (p.Arg823Met)
n.3283G>T
Xg.53241833C>GCA413149157IQSEC2c.3125G>C (p.Arg1042Thr)
c.918G>C
c.427G>C
c.256G>C
c.29G>C (p.Arg10Thr)
c.2966G>C (p.Arg989Thr)
n.1273G>C
c.2936G>C (p.Arg979Thr)
c.2351G>C (p.Arg784Thr)
c.3062G>C (p.Arg1021Thr)
c.2288G>C (p.Arg763Thr)
c.2255G>C (p.Arg752Thr)
n.3289G>C
c.2468G>C (p.Arg823Thr)
n.3283G>C
Xg.53241833C>TCA413149160IQSEC2c.3125G>A (p.Arg1042Lys)
c.918G>A
c.427G>A
c.256G>A
c.29G>A (p.Arg10Lys)
c.2966G>A (p.Arg989Lys)
n.1273G>A
c.2936G>A (p.Arg979Lys)
c.2351G>A (p.Arg784Lys)
c.3062G>A (p.Arg1021Lys)
c.2288G>A (p.Arg763Lys)
c.2255G>A (p.Arg752Lys)
n.3289G>A
c.2468G>A (p.Arg823Lys)
n.3283G>A
Xg.53241834T>ACA413149173IQSEC2c.3124A>T (p.Arg1042Trp)
c.917A>T
c.426A>T
c.255A>T
c.28A>T (p.Arg10Trp)
c.2965A>T (p.Arg989Trp)
n.1272A>T
c.2935A>T (p.Arg979Trp)
c.2350A>T (p.Arg784Trp)
c.3061A>T (p.Arg1021Trp)
c.2287A>T (p.Arg763Trp)
c.2254A>T (p.Arg752Trp)
n.3288A>T
c.2467A>T (p.Arg823Trp)
n.3282A>T
Xg.53241834T>CCA413149175IQSEC2c.3124A>G (p.Arg1042Gly)
c.917A>G
c.426A>G
c.255A>G
c.28A>G (p.Arg10Gly)
c.2965A>G (p.Arg989Gly)
n.1272A>G
c.2935A>G (p.Arg979Gly)
c.2350A>G (p.Arg784Gly)
c.3061A>G (p.Arg1021Gly)
c.2287A>G (p.Arg763Gly)
c.2254A>G (p.Arg752Gly)
n.3288A>G
c.2467A>G (p.Arg823Gly)
n.3282A>G
Xg.53241834T>GCA516424852IQSEC2c.3124A>C (p.Arg1042=)
c.917A>C
c.426A>C
c.255A>C
c.28A>C (p.Arg10=)
c.2965A>C (p.Arg989=)
n.1272A>C
c.2935A>C (p.Arg979=)
c.2350A>C (p.Arg784=)
c.3061A>C (p.Arg1021=)
c.2287A>C (p.Arg763=)
c.2254A>C (p.Arg752=)
n.3288A>C
c.2467A>C (p.Arg823=)
n.3282A>C
Xg.53241835C>ACA413149180IQSEC2c.3123G>T (p.Gln1041His)
c.916G>T
c.425G>T
c.254G>T
c.27G>T (p.Gln9His)
c.2964G>T (p.Gln988His)
n.1271G>T
c.2934G>T (p.Gln978His)
c.2349G>T (p.Gln783His)
c.3060G>T (p.Gln1020His)
c.2286G>T (p.Gln762His)
c.2253G>T (p.Gln751His)
n.3287G>T
c.2466G>T (p.Gln822His)
n.3281G>T
Xg.53241835C>GCA413149181IQSEC2c.3123G>C (p.Gln1041His)
c.916G>C
c.425G>C
c.254G>C
c.27G>C (p.Gln9His)
c.2964G>C (p.Gln988His)
n.1271G>C
c.2934G>C (p.Gln978His)
c.2349G>C (p.Gln783His)
c.3060G>C (p.Gln1020His)
c.2286G>C (p.Gln762His)
c.2253G>C (p.Gln751His)
n.3287G>C
c.2466G>C (p.Gln822His)
n.3281G>C
Xg.53241835C>TCA516424859IQSEC2c.3123G>A (p.Gln1041=)
c.916G>A
c.425G>A
c.254G>A
c.27G>A (p.Gln9=)
c.2964G>A (p.Gln988=)
n.1271G>A
c.2934G>A (p.Gln978=)
c.2349G>A (p.Gln783=)
c.3060G>A (p.Gln1020=)
c.2286G>A (p.Gln762=)
c.2253G>A (p.Gln751=)
n.3287G>A
c.2466G>A (p.Gln822=)
n.3281G>A
 gnomAD v4
Xg.53241836delCA516424868IQSEC2c.3122del (p.Gln1041ArgfsTer3)
c.915del
c.424del
c.253del
c.26del (p.Gln9ArgfsTer3)
c.2963del (p.Gln988ArgfsTer3)
n.1270del
c.2933del (p.Gln978ArgfsTer3)
c.2348del (p.Gln783ArgfsTer3)
c.3059del (p.Gln1020ArgfsTer3)
c.2285del (p.Gln762ArgfsTer3)
c.2252del (p.Gln751ArgfsTer3)
n.3286del
c.2465del (p.Gln822ArgfsTer3)
n.3280del
 COSMIC COSMIC
Xg.53241836T>ACA413149186IQSEC2c.3122A>T (p.Gln1041Leu)
c.915A>T
c.424A>T
c.253A>T
c.26A>T (p.Gln9Leu)
c.2963A>T (p.Gln988Leu)
n.1270A>T
c.2933A>T (p.Gln978Leu)
c.2348A>T (p.Gln783Leu)
c.3059A>T (p.Gln1020Leu)
c.2285A>T (p.Gln762Leu)
c.2252A>T (p.Gln751Leu)
n.3286A>T
c.2465A>T (p.Gln822Leu)
n.3280A>T
Xg.53241836T>CCA413149190IQSEC2c.3122A>G (p.Gln1041Arg)
c.915A>G
c.424A>G
c.253A>G
c.26A>G (p.Gln9Arg)
c.2963A>G (p.Gln988Arg)
n.1270A>G
c.2933A>G (p.Gln978Arg)
c.2348A>G (p.Gln783Arg)
c.3059A>G (p.Gln1020Arg)
c.2285A>G (p.Gln762Arg)
c.2252A>G (p.Gln751Arg)
n.3286A>G
c.2465A>G (p.Gln822Arg)
n.3280A>G
Xg.53241836T>GCA413149197IQSEC2c.3122A>C (p.Gln1041Pro)
c.915A>C
c.424A>C
c.253A>C
c.26A>C (p.Gln9Pro)
c.2963A>C (p.Gln988Pro)
n.1270A>C
c.2933A>C (p.Gln978Pro)
c.2348A>C (p.Gln783Pro)
c.3059A>C (p.Gln1020Pro)
c.2285A>C (p.Gln762Pro)
c.2252A>C (p.Gln751Pro)
n.3286A>C
c.2465A>C (p.Gln822Pro)
n.3280A>C
Xg.53241837G>ACA413149198IQSEC2c.3121C>T (p.Gln1041Ter)
c.914C>T
c.423C>T
c.252C>T
c.25C>T (p.Gln9Ter)
c.2962C>T (p.Gln988Ter)
n.1269C>T
c.2932C>T (p.Gln978Ter)
c.2347C>T (p.Gln783Ter)
c.3058C>T (p.Gln1020Ter)
c.2284C>T (p.Gln762Ter)
c.2251C>T (p.Gln751Ter)
n.3285C>T
c.2464C>T (p.Gln822Ter)
n.3279C>T
Xg.53241837G>CCA413149199IQSEC2c.3121C>G (p.Gln1041Glu)
c.914C>G
c.423C>G
c.252C>G
c.25C>G (p.Gln9Glu)
c.2962C>G (p.Gln988Glu)
n.1269C>G
c.2932C>G (p.Gln978Glu)
c.2347C>G (p.Gln783Glu)
c.3058C>G (p.Gln1020Glu)
c.2284C>G (p.Gln762Glu)
c.2251C>G (p.Gln751Glu)
n.3285C>G
c.2464C>G (p.Gln822Glu)
n.3279C>G
Xg.53241837G>TCA413149204IQSEC2c.3121C>A (p.Gln1041Lys)
c.914C>A
c.423C>A
c.252C>A
c.25C>A (p.Gln9Lys)
c.2962C>A (p.Gln988Lys)
n.1269C>A
c.2932C>A (p.Gln978Lys)
c.2347C>A (p.Gln783Lys)
c.3058C>A (p.Gln1020Lys)
c.2284C>A (p.Gln762Lys)
c.2251C>A (p.Gln751Lys)
n.3285C>A
c.2464C>A (p.Gln822Lys)
n.3279C>A
Xg.53241838G>ACA516424884IQSEC2c.3120C>T (p.Pro1040=)
c.913C>T
c.422C>T
c.251C>T
c.24C>T (p.Pro8=)
c.2961C>T (p.Pro987=)
n.1268C>T
c.2931C>T (p.Pro977=)
c.2346C>T (p.Pro782=)
c.3057C>T (p.Pro1019=)
c.2283C>T (p.Pro761=)
c.2250C>T (p.Pro750=)
n.3284C>T
c.2463C>T (p.Pro821=)
n.3278C>T
Xg.53241838G>CCA516424881IQSEC2c.3120C>G (p.Pro1040=)
c.913C>G
c.422C>G
c.251C>G
c.24C>G (p.Pro8=)
c.2961C>G (p.Pro987=)
n.1268C>G
c.2931C>G (p.Pro977=)
c.2346C>G (p.Pro782=)
c.3057C>G (p.Pro1019=)
c.2283C>G (p.Pro761=)
c.2250C>G (p.Pro750=)
n.3284C>G
c.2463C>G (p.Pro821=)
n.3278C>G
Xg.53241838G>TCA516424883IQSEC2c.3120C>A (p.Pro1040=)
c.913C>A
c.422C>A
c.251C>A
c.24C>A (p.Pro8=)
c.2961C>A (p.Pro987=)
n.1268C>A
c.2931C>A (p.Pro977=)
c.2346C>A (p.Pro782=)
c.3057C>A (p.Pro1019=)
c.2283C>A (p.Pro761=)
c.2250C>A (p.Pro750=)
n.3284C>A
c.2463C>A (p.Pro821=)
n.3278C>A
Xg.53241839G>ACA413149211IQSEC2c.3119C>T (p.Pro1040Leu)
c.912C>T
c.421C>T
c.250C>T
c.23C>T (p.Pro8Leu)
c.2960C>T (p.Pro987Leu)
n.1267C>T
c.2930C>T (p.Pro977Leu)
c.2345C>T (p.Pro782Leu)
c.3056C>T (p.Pro1019Leu)
c.2282C>T (p.Pro761Leu)
c.2249C>T (p.Pro750Leu)
n.3283C>T
c.2462C>T (p.Pro821Leu)
n.3277C>T
 gnomAD v4
Xg.53241839G>CCA413149215IQSEC2c.3119C>G (p.Pro1040Arg)
c.912C>G
c.421C>G
c.250C>G
c.23C>G (p.Pro8Arg)
c.2960C>G (p.Pro987Arg)
n.1267C>G
c.2930C>G (p.Pro977Arg)
c.2345C>G (p.Pro782Arg)
c.3056C>G (p.Pro1019Arg)
c.2282C>G (p.Pro761Arg)
c.2249C>G (p.Pro750Arg)
n.3283C>G
c.2462C>G (p.Pro821Arg)
n.3277C>G
Xg.53241839G>TCA413149207IQSEC2c.3119C>A (p.Pro1040His)
c.912C>A
c.421C>A
c.250C>A
c.23C>A (p.Pro8His)
c.2960C>A (p.Pro987His)
n.1267C>A
c.2930C>A (p.Pro977His)
c.2345C>A (p.Pro782His)
c.3056C>A (p.Pro1019His)
c.2282C>A (p.Pro761His)
c.2249C>A (p.Pro750His)
n.3283C>A
c.2462C>A (p.Pro821His)
n.3277C>A
Xg.53241840G>ACA10419869IQSEC2c.3118C>T (p.Pro1040Ser)
c.911C>T
c.420C>T
c.249C>T
c.22C>T (p.Pro8Ser)
c.2959C>T (p.Pro987Ser)
n.1266C>T
c.2929C>T (p.Pro977Ser)
c.2344C>T (p.Pro782Ser)
c.3055C>T (p.Pro1019Ser)
c.2281C>T (p.Pro761Ser)
c.2248C>T (p.Pro750Ser)
n.3282C>T
c.2461C>T (p.Pro821Ser)
n.3276C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241840G>CCA413149224IQSEC2c.3118C>G (p.Pro1040Ala)
c.911C>G
c.420C>G
c.249C>G
c.22C>G (p.Pro8Ala)
c.2959C>G (p.Pro987Ala)
n.1266C>G
c.2929C>G (p.Pro977Ala)
c.2344C>G (p.Pro782Ala)
c.3055C>G (p.Pro1019Ala)
c.2281C>G (p.Pro761Ala)
c.2248C>G (p.Pro750Ala)
n.3282C>G
c.2461C>G (p.Pro821Ala)
n.3276C>G
Xg.53241840G=CA2429772813IQSEC2c.3118C= (p.Pro1040=)
c.911C=
c.420C=
c.249C=
c.22C= (p.Pro8=)
c.2959C= (p.Pro987=)
n.1266C=
c.2929C= (p.Pro977=)
c.2344C= (p.Pro782=)
c.3055C= (p.Pro1019=)
c.2281C= (p.Pro761=)
c.2248C= (p.Pro750=)
n.3282C=
c.2461C= (p.Pro821=)
n.3276C=
Xg.53241840G>TCA413149227IQSEC2c.3118C>A (p.Pro1040Thr)
c.911C>A
c.420C>A
c.249C>A
c.22C>A (p.Pro8Thr)
c.2959C>A (p.Pro987Thr)
n.1266C>A
c.2929C>A (p.Pro977Thr)
c.2344C>A (p.Pro782Thr)
c.3055C>A (p.Pro1019Thr)
c.2281C>A (p.Pro761Thr)
c.2248C>A (p.Pro750Thr)
n.3282C>A
c.2461C>A (p.Pro821Thr)
n.3276C>A
Xg.53241841G>ACA516424898IQSEC2c.3117C>T (p.Arg1039=)
c.910C>T
c.419C>T
c.248C>T
c.21C>T (p.Arg7=)
c.2958C>T (p.Arg986=)
n.1265C>T
c.2928C>T (p.Arg976=)
c.2343C>T (p.Arg781=)
c.3054C>T (p.Arg1018=)
c.2280C>T (p.Arg760=)
c.2247C>T (p.Arg749=)
n.3281C>T
c.2460C>T (p.Arg820=)
n.3275C>T
 dbSNP
Xg.53241841G>CCA516424905IQSEC2c.3117C>G (p.Arg1039=)
c.910C>G
c.419C>G
c.248C>G
c.21C>G (p.Arg7=)
c.2958C>G (p.Arg986=)
n.1265C>G
c.2928C>G (p.Arg976=)
c.2343C>G (p.Arg781=)
c.3054C>G (p.Arg1018=)
c.2280C>G (p.Arg760=)
c.2247C>G (p.Arg749=)
n.3281C>G
c.2460C>G (p.Arg820=)
n.3275C>G
Xg.53241841G=CA2429772814IQSEC2c.3117C= (p.Arg1039=)
c.910C=
c.419C=
c.248C=
c.21C= (p.Arg7=)
c.2958C= (p.Arg986=)
n.1265C=
c.2928C= (p.Arg976=)
c.2343C= (p.Arg781=)
c.3054C= (p.Arg1018=)
c.2280C= (p.Arg760=)
c.2247C= (p.Arg749=)
n.3281C=
c.2460C= (p.Arg820=)
n.3275C=
Xg.53241841G>TCA516424901IQSEC2c.3117C>A (p.Arg1039=)
c.910C>A
c.419C>A
c.248C>A
c.21C>A (p.Arg7=)
c.2958C>A (p.Arg986=)
n.1265C>A
c.2928C>A (p.Arg976=)
c.2343C>A (p.Arg781=)
c.3054C>A (p.Arg1018=)
c.2280C>A (p.Arg760=)
c.2247C>A (p.Arg749=)
n.3281C>A
c.2460C>A (p.Arg820=)
n.3275C>A
Xg.53241842C>ACA413149237IQSEC2c.3116G>T (p.Arg1039Leu)
c.909G>T
c.418G>T
c.247G>T
c.20G>T (p.Arg7Leu)
c.2957G>T (p.Arg986Leu)
n.1264G>T
c.2927G>T (p.Arg976Leu)
c.2342G>T (p.Arg781Leu)
c.3053G>T (p.Arg1018Leu)
c.2279G>T (p.Arg760Leu)
c.2246G>T (p.Arg749Leu)
n.3280G>T
c.2459G>T (p.Arg820Leu)
n.3274G>T
Xg.53241842C=CA2429772815IQSEC2c.3116G= (p.Arg1039=)
c.909G=
c.418G=
c.247G=
c.20G= (p.Arg7=)
c.2957G= (p.Arg986=)
n.1264G=
c.2927G= (p.Arg976=)
c.2342G= (p.Arg781=)
c.3053G= (p.Arg1018=)
c.2279G= (p.Arg760=)
c.2246G= (p.Arg749=)
n.3280G=
c.2459G= (p.Arg820=)
n.3274G=
Xg.53241842C>GCA413149240IQSEC2c.3116G>C (p.Arg1039Pro)
c.909G>C
c.418G>C
c.247G>C
c.20G>C (p.Arg7Pro)
c.2957G>C (p.Arg986Pro)
n.1264G>C
c.2927G>C (p.Arg976Pro)
c.2342G>C (p.Arg781Pro)
c.3053G>C (p.Arg1018Pro)
c.2279G>C (p.Arg760Pro)
c.2246G>C (p.Arg749Pro)
n.3280G>C
c.2459G>C (p.Arg820Pro)
n.3274G>C
Xg.53241842C>TCA10419870IQSEC2c.3116G>A (p.Arg1039His)
c.909G>A
c.418G>A
c.247G>A
c.20G>A (p.Arg7His)
c.2957G>A (p.Arg986His)
n.1264G>A
c.2927G>A (p.Arg976His)
c.2342G>A (p.Arg781His)
c.3053G>A (p.Arg1018His)
c.2279G>A (p.Arg760His)
c.2246G>A (p.Arg749His)
n.3280G>A
c.2459G>A (p.Arg820His)
n.3274G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241843G>ACA413149249IQSEC2c.3115C>T (p.Arg1039Cys)
c.908C>T
c.417C>T
c.246C>T
c.19C>T (p.Arg7Cys)
c.2956C>T (p.Arg986Cys)
n.1263C>T
c.2926C>T (p.Arg976Cys)
c.2341C>T (p.Arg781Cys)
c.3052C>T (p.Arg1018Cys)
c.2278C>T (p.Arg760Cys)
c.2245C>T (p.Arg749Cys)
n.3279C>T
c.2458C>T (p.Arg820Cys)
n.3273C>T
 ClinVar dbSNP gnomAD v4
Xg.53241843G>CCA413149252IQSEC2c.3115C>G (p.Arg1039Gly)
c.908C>G
c.417C>G
c.246C>G
c.19C>G (p.Arg7Gly)
c.2956C>G (p.Arg986Gly)
n.1263C>G
c.2926C>G (p.Arg976Gly)
c.2341C>G (p.Arg781Gly)
c.3052C>G (p.Arg1018Gly)
c.2278C>G (p.Arg760Gly)
c.2245C>G (p.Arg749Gly)
n.3279C>G
c.2458C>G (p.Arg820Gly)
n.3273C>G
Xg.53241843G=CA2429772816IQSEC2c.3115C= (p.Arg1039=)
c.908C=
c.417C=
c.246C=
c.19C= (p.Arg7=)
c.2956C= (p.Arg986=)
n.1263C=
c.2926C= (p.Arg976=)
c.2341C= (p.Arg781=)
c.3052C= (p.Arg1018=)
c.2278C= (p.Arg760=)
c.2245C= (p.Arg749=)
n.3279C=
c.2458C= (p.Arg820=)
n.3273C=
Xg.53241843G>TCA413149254IQSEC2c.3115C>A (p.Arg1039Ser)
c.908C>A
c.417C>A
c.246C>A
c.19C>A (p.Arg7Ser)
c.2956C>A (p.Arg986Ser)
n.1263C>A
c.2926C>A (p.Arg976Ser)
c.2341C>A (p.Arg781Ser)
c.3052C>A (p.Arg1018Ser)
c.2278C>A (p.Arg760Ser)
c.2245C>A (p.Arg749Ser)
n.3279C>A
c.2458C>A (p.Arg820Ser)
n.3273C>A
Xg.53241844G>ACA516424925IQSEC2c.3114C>T (p.Asn1038=)
c.907C>T
c.416C>T
c.245C>T
c.18C>T (p.Asn6=)
c.2955C>T (p.Asn985=)
n.1262C>T
c.2925C>T (p.Asn975=)
c.2340C>T (p.Asn780=)
c.3051C>T (p.Asn1017=)
c.2277C>T (p.Asn759=)
c.2244C>T (p.Asn748=)
n.3278C>T
c.2457C>T (p.Asn819=)
n.3272C>T
Xg.53241844G>CCA413149263IQSEC2c.3114C>G (p.Asn1038Lys)
c.907C>G
c.416C>G
c.245C>G
c.18C>G (p.Asn6Lys)
c.2955C>G (p.Asn985Lys)
n.1262C>G
c.2925C>G (p.Asn975Lys)
c.2340C>G (p.Asn780Lys)
c.3051C>G (p.Asn1017Lys)
c.2277C>G (p.Asn759Lys)
c.2244C>G (p.Asn748Lys)
n.3278C>G
c.2457C>G (p.Asn819Lys)
n.3272C>G
Xg.53241844G>TCA413149268IQSEC2c.3114C>A (p.Asn1038Lys)
c.907C>A
c.416C>A
c.245C>A
c.18C>A (p.Asn6Lys)
c.2955C>A (p.Asn985Lys)
n.1262C>A
c.2925C>A (p.Asn975Lys)
c.2340C>A (p.Asn780Lys)
c.3051C>A (p.Asn1017Lys)
c.2277C>A (p.Asn759Lys)
c.2244C>A (p.Asn748Lys)
n.3278C>A
c.2457C>A (p.Asn819Lys)
n.3272C>A
Xg.53241845T>ACA413149275IQSEC2c.3113A>T (p.Asn1038Ile)
c.906A>T
c.415A>T
c.244A>T
c.17A>T (p.Asn6Ile)
c.2954A>T (p.Asn985Ile)
n.1261A>T
c.2924A>T (p.Asn975Ile)
c.2339A>T (p.Asn780Ile)
c.3050A>T (p.Asn1017Ile)
c.2276A>T (p.Asn759Ile)
c.2243A>T (p.Asn748Ile)
n.3277A>T
c.2456A>T (p.Asn819Ile)
n.3271A>T
Xg.53241845T>CCA413149280IQSEC2c.3113A>G (p.Asn1038Ser)
c.906A>G
c.415A>G
c.244A>G
c.17A>G (p.Asn6Ser)
c.2954A>G (p.Asn985Ser)
n.1261A>G
c.2924A>G (p.Asn975Ser)
c.2339A>G (p.Asn780Ser)
c.3050A>G (p.Asn1017Ser)
c.2276A>G (p.Asn759Ser)
c.2243A>G (p.Asn748Ser)
n.3277A>G
c.2456A>G (p.Asn819Ser)
n.3271A>G
Xg.53241845T>GCA413149290IQSEC2c.3113A>C (p.Asn1038Thr)
c.906A>C
c.415A>C
c.244A>C
c.17A>C (p.Asn6Thr)
c.2954A>C (p.Asn985Thr)
n.1261A>C
c.2924A>C (p.Asn975Thr)
c.2339A>C (p.Asn780Thr)
c.3050A>C (p.Asn1017Thr)
c.2276A>C (p.Asn759Thr)
c.2243A>C (p.Asn748Thr)
n.3277A>C
c.2456A>C (p.Asn819Thr)
n.3271A>C
Xg.53241846T>ACA413149311IQSEC2c.3112A>T (p.Asn1038Tyr)
c.905A>T
c.414A>T
c.243A>T
c.16A>T (p.Asn6Tyr)
c.2953A>T (p.Asn985Tyr)
n.1260A>T
c.2923A>T (p.Asn975Tyr)
c.2338A>T (p.Asn780Tyr)
c.3049A>T (p.Asn1017Tyr)
c.2275A>T (p.Asn759Tyr)
c.2242A>T (p.Asn748Tyr)
n.3276A>T
c.2455A>T (p.Asn819Tyr)
n.3270A>T
Xg.53241846T>CCA413149301IQSEC2c.3112A>G (p.Asn1038Asp)
c.905A>G
c.414A>G
c.243A>G
c.16A>G (p.Asn6Asp)
c.2953A>G (p.Asn985Asp)
n.1260A>G
c.2923A>G (p.Asn975Asp)
c.2338A>G (p.Asn780Asp)
c.3049A>G (p.Asn1017Asp)
c.2275A>G (p.Asn759Asp)
c.2242A>G (p.Asn748Asp)
n.3276A>G
c.2455A>G (p.Asn819Asp)
n.3270A>G
Xg.53241846T>GCA413149308IQSEC2c.3112A>C (p.Asn1038His)
c.905A>C
c.414A>C
c.243A>C
c.16A>C (p.Asn6His)
c.2953A>C (p.Asn985His)
n.1260A>C
c.2923A>C (p.Asn975His)
c.2338A>C (p.Asn780His)
c.3049A>C (p.Asn1017His)
c.2275A>C (p.Asn759His)
c.2242A>C (p.Asn748His)
n.3276A>C
c.2455A>C (p.Asn819His)
n.3270A>C
Xg.53241847T>ACA516424942IQSEC2c.3111A>T (p.Pro1037=)
c.904A>T
c.413A>T
c.242A>T
c.15A>T (p.Pro5=)
c.2952A>T (p.Pro984=)
n.1259A>T
c.2922A>T (p.Pro974=)
c.2337A>T (p.Pro779=)
c.3048A>T (p.Pro1016=)
c.2274A>T (p.Pro758=)
c.2241A>T (p.Pro747=)
n.3275A>T
c.2454A>T (p.Pro818=)
n.3269A>T
Xg.53241847T>CCA516424946IQSEC2c.3111A>G (p.Pro1037=)
c.904A>G
c.413A>G
c.242A>G
c.15A>G (p.Pro5=)
c.2952A>G (p.Pro984=)
n.1259A>G
c.2922A>G (p.Pro974=)
c.2337A>G (p.Pro779=)
c.3048A>G (p.Pro1016=)
c.2274A>G (p.Pro758=)
c.2241A>G (p.Pro747=)
n.3275A>G
c.2454A>G (p.Pro818=)
n.3269A>G
Xg.53241847T>GCA10419871IQSEC2c.3111A>C (p.Pro1037=)
c.904A>C
c.413A>C
c.242A>C
c.15A>C (p.Pro5=)
c.2952A>C (p.Pro984=)
n.1259A>C
c.2922A>C (p.Pro974=)
c.2337A>C (p.Pro779=)
c.3048A>C (p.Pro1016=)
c.2274A>C (p.Pro758=)
c.2241A>C (p.Pro747=)
n.3275A>C
c.2454A>C (p.Pro818=)
n.3269A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241847T=CA2429772817IQSEC2c.3111A= (p.Pro1037=)
c.904A=
c.413A=
c.242A=
c.15A= (p.Pro5=)
c.2952A= (p.Pro984=)
n.1259A=
c.2922A= (p.Pro974=)
c.2337A= (p.Pro779=)
c.3048A= (p.Pro1016=)
c.2274A= (p.Pro758=)
c.2241A= (p.Pro747=)
n.3275A=
c.2454A= (p.Pro818=)
n.3269A=
Xg.53241848G>ACA413149316IQSEC2c.3110C>T (p.Pro1037Leu)
c.903C>T
c.412C>T
c.241C>T
c.14C>T (p.Pro5Leu)
c.2951C>T (p.Pro984Leu)
n.1258C>T
c.2921C>T (p.Pro974Leu)
c.2336C>T (p.Pro779Leu)
c.3047C>T (p.Pro1016Leu)
c.2273C>T (p.Pro758Leu)
c.2240C>T (p.Pro747Leu)
n.3274C>T
c.2453C>T (p.Pro818Leu)
n.3268C>T
Xg.53241848G>CCA413149317IQSEC2c.3110C>G (p.Pro1037Arg)
c.903C>G
c.412C>G
c.241C>G
c.14C>G (p.Pro5Arg)
c.2951C>G (p.Pro984Arg)
n.1258C>G
c.2921C>G (p.Pro974Arg)
c.2336C>G (p.Pro779Arg)
c.3047C>G (p.Pro1016Arg)
c.2273C>G (p.Pro758Arg)
c.2240C>G (p.Pro747Arg)
n.3274C>G
c.2453C>G (p.Pro818Arg)
n.3268C>G
 gnomAD v4
Xg.53241848G>TCA413149318IQSEC2c.3110C>A (p.Pro1037Gln)
c.903C>A
c.412C>A
c.241C>A
c.14C>A (p.Pro5Gln)
c.2951C>A (p.Pro984Gln)
n.1258C>A
c.2921C>A (p.Pro974Gln)
c.2336C>A (p.Pro779Gln)
c.3047C>A (p.Pro1016Gln)
c.2273C>A (p.Pro758Gln)
c.2240C>A (p.Pro747Gln)
n.3274C>A
c.2453C>A (p.Pro818Gln)
n.3268C>A
Xg.53241849G>ACA413149320IQSEC2c.3109C>T (p.Pro1037Ser)
c.902C>T
c.411C>T
c.240C>T
c.13C>T (p.Pro5Ser)
c.2950C>T (p.Pro984Ser)
n.1257C>T
c.2920C>T (p.Pro974Ser)
c.2335C>T (p.Pro779Ser)
c.3046C>T (p.Pro1016Ser)
c.2272C>T (p.Pro758Ser)
c.2239C>T (p.Pro747Ser)
n.3273C>T
c.2452C>T (p.Pro818Ser)
n.3267C>T
Xg.53241849G>CCA413149321IQSEC2c.3109C>G (p.Pro1037Ala)
c.902C>G
c.411C>G
c.240C>G
c.13C>G (p.Pro5Ala)
c.2950C>G (p.Pro984Ala)
n.1257C>G
c.2920C>G (p.Pro974Ala)
c.2335C>G (p.Pro779Ala)
c.3046C>G (p.Pro1016Ala)
c.2272C>G (p.Pro758Ala)
c.2239C>G (p.Pro747Ala)
n.3273C>G
c.2452C>G (p.Pro818Ala)
n.3267C>G
Xg.53241849G>TCA413149323IQSEC2c.3109C>A (p.Pro1037Thr)
c.902C>A
c.411C>A
c.240C>A
c.13C>A (p.Pro5Thr)
c.2950C>A (p.Pro984Thr)
n.1257C>A
c.2920C>A (p.Pro974Thr)
c.2335C>A (p.Pro779Thr)
c.3046C>A (p.Pro1016Thr)
c.2272C>A (p.Pro758Thr)
c.2239C>A (p.Pro747Thr)
n.3273C>A
c.2452C>A (p.Pro818Thr)
n.3267C>A
Xg.53241850A>CCA413149327IQSEC2c.3108T>G (p.Asp1036Glu)
c.901T>G
c.410T>G
c.239T>G
c.12T>G (p.Asp4Glu)
c.2949T>G (p.Asp983Glu)
n.1256T>G
c.2919T>G (p.Asp973Glu)
c.2334T>G (p.Asp778Glu)
c.3045T>G (p.Asp1015Glu)
c.2271T>G (p.Asp757Glu)
c.2238T>G (p.Asp746Glu)
n.3272T>G
c.2451T>G (p.Asp817Glu)
n.3266T>G
Xg.53241850A>GCA516424969IQSEC2c.3108T>C (p.Asp1036=)
c.901T>C
c.410T>C
c.239T>C
c.12T>C (p.Asp4=)
c.2949T>C (p.Asp983=)
n.1256T>C
c.2919T>C (p.Asp973=)
c.2334T>C (p.Asp778=)
c.3045T>C (p.Asp1015=)
c.2271T>C (p.Asp757=)
c.2238T>C (p.Asp746=)
n.3272T>C
c.2451T>C (p.Asp817=)
n.3266T>C
 ClinVar
Xg.53241850A>TCA413149329IQSEC2c.3108T>A (p.Asp1036Glu)
c.901T>A
c.410T>A
c.239T>A
c.12T>A (p.Asp4Glu)
c.2949T>A (p.Asp983Glu)
n.1256T>A
c.2919T>A (p.Asp973Glu)
c.2334T>A (p.Asp778Glu)
c.3045T>A (p.Asp1015Glu)
c.2271T>A (p.Asp757Glu)
c.2238T>A (p.Asp746Glu)
n.3272T>A
c.2451T>A (p.Asp817Glu)
n.3266T>A
Xg.53241851T>ACA413149342IQSEC2c.3107A>T (p.Asp1036Val)
c.900A>T
c.409A>T
c.238A>T
c.11A>T (p.Asp4Val)
c.2948A>T (p.Asp983Val)
n.1255A>T
c.2918A>T (p.Asp973Val)
c.2333A>T (p.Asp778Val)
c.3044A>T (p.Asp1015Val)
c.2270A>T (p.Asp757Val)
c.2237A>T (p.Asp746Val)
n.3271A>T
c.2450A>T (p.Asp817Val)
n.3265A>T
Xg.53241851T>CCA413149345IQSEC2c.3107A>G (p.Asp1036Gly)
c.900A>G
c.409A>G
c.238A>G
c.11A>G (p.Asp4Gly)
c.2948A>G (p.Asp983Gly)
n.1255A>G
c.2918A>G (p.Asp973Gly)
c.2333A>G (p.Asp778Gly)
c.3044A>G (p.Asp1015Gly)
c.2270A>G (p.Asp757Gly)
c.2237A>G (p.Asp746Gly)
n.3271A>G
c.2450A>G (p.Asp817Gly)
n.3265A>G
Xg.53241851T>GCA413149348IQSEC2c.3107A>C (p.Asp1036Ala)
c.900A>C
c.409A>C
c.238A>C
c.11A>C (p.Asp4Ala)
c.2948A>C (p.Asp983Ala)
n.1255A>C
c.2918A>C (p.Asp973Ala)
c.2333A>C (p.Asp778Ala)
c.3044A>C (p.Asp1015Ala)
c.2270A>C (p.Asp757Ala)
c.2237A>C (p.Asp746Ala)
n.3271A>C
c.2450A>C (p.Asp817Ala)
n.3265A>C
Xg.53241852C>ACA413149357IQSEC2c.3106G>T (p.Asp1036Tyr)
c.899G>T
c.408G>T
c.237G>T
c.10G>T (p.Asp4Tyr)
c.2947G>T (p.Asp983Tyr)
n.1254G>T
c.2917G>T (p.Asp973Tyr)
c.2332G>T (p.Asp778Tyr)
c.3043G>T (p.Asp1015Tyr)
c.2269G>T (p.Asp757Tyr)
c.2236G>T (p.Asp746Tyr)
n.3270G>T
c.2449G>T (p.Asp817Tyr)
n.3264G>T
Xg.53241852C>GCA413149355IQSEC2c.3106G>C (p.Asp1036His)
c.899G>C
c.408G>C
c.237G>C
c.10G>C (p.Asp4His)
c.2947G>C (p.Asp983His)
n.1254G>C
c.2917G>C (p.Asp973His)
c.2332G>C (p.Asp778His)
c.3043G>C (p.Asp1015His)
c.2269G>C (p.Asp757His)
c.2236G>C (p.Asp746His)
n.3270G>C
c.2449G>C (p.Asp817His)
n.3264G>C
Xg.53241852C>TCA413149354IQSEC2c.3106G>A (p.Asp1036Asn)
c.899G>A
c.408G>A
c.237G>A
c.10G>A (p.Asp4Asn)
c.2947G>A (p.Asp983Asn)
n.1254G>A
c.2917G>A (p.Asp973Asn)
c.2332G>A (p.Asp778Asn)
c.3043G>A (p.Asp1015Asn)
c.2269G>A (p.Asp757Asn)
c.2236G>A (p.Asp746Asn)
n.3270G>A
c.2449G>A (p.Asp817Asn)
n.3264G>A
Xg.53241853T>ACA516424993IQSEC2c.3105A>T (p.Pro1035=)
c.898A>T
c.407A>T
c.236A>T
c.9A>T (p.Pro3=)
c.2946A>T (p.Pro982=)
n.1253A>T
c.2916A>T (p.Pro972=)
c.2331A>T (p.Pro777=)
c.3042A>T (p.Pro1014=)
c.2268A>T (p.Pro756=)
c.2235A>T (p.Pro745=)
n.3269A>T
c.2448A>T (p.Pro816=)
n.3263A>T
Xg.53241853T>CCA516424995IQSEC2c.3105A>G (p.Pro1035=)
c.898A>G
c.407A>G
c.236A>G
c.9A>G (p.Pro3=)
c.2946A>G (p.Pro982=)
n.1253A>G
c.2916A>G (p.Pro972=)
c.2331A>G (p.Pro777=)
c.3042A>G (p.Pro1014=)
c.2268A>G (p.Pro756=)
c.2235A>G (p.Pro745=)
n.3269A>G
c.2448A>G (p.Pro816=)
n.3263A>G
Xg.53241853T>GCA516424997IQSEC2c.3105A>C (p.Pro1035=)
c.898A>C
c.407A>C
c.236A>C
c.9A>C (p.Pro3=)
c.2946A>C (p.Pro982=)
n.1253A>C
c.2916A>C (p.Pro972=)
c.2331A>C (p.Pro777=)
c.3042A>C (p.Pro1014=)
c.2268A>C (p.Pro756=)
c.2235A>C (p.Pro745=)
n.3269A>C
c.2448A>C (p.Pro816=)
n.3263A>C
Xg.53241854G>ACA413149360IQSEC2c.3104C>T (p.Pro1035Leu)
c.897C>T
c.406C>T
c.235C>T
c.8C>T (p.Pro3Leu)
c.2945C>T (p.Pro982Leu)
n.1252C>T
c.2915C>T (p.Pro972Leu)
c.2330C>T (p.Pro777Leu)
c.3041C>T (p.Pro1014Leu)
c.2267C>T (p.Pro756Leu)
c.2234C>T (p.Pro745Leu)
n.3268C>T
c.2447C>T (p.Pro816Leu)
n.3262C>T
Xg.53241854G>CCA413149361IQSEC2c.3104C>G (p.Pro1035Arg)
c.897C>G
c.406C>G
c.235C>G
c.8C>G (p.Pro3Arg)
c.2945C>G (p.Pro982Arg)
n.1252C>G
c.2915C>G (p.Pro972Arg)
c.2330C>G (p.Pro777Arg)
c.3041C>G (p.Pro1014Arg)
c.2267C>G (p.Pro756Arg)
c.2234C>G (p.Pro745Arg)
n.3268C>G
c.2447C>G (p.Pro816Arg)
n.3262C>G
Xg.53241854G>TCA413149362IQSEC2c.3104C>A (p.Pro1035Gln)
c.897C>A
c.406C>A
c.235C>A
c.8C>A (p.Pro3Gln)
c.2945C>A (p.Pro982Gln)
n.1252C>A
c.2915C>A (p.Pro972Gln)
c.2330C>A (p.Pro777Gln)
c.3041C>A (p.Pro1014Gln)
c.2267C>A (p.Pro756Gln)
c.2234C>A (p.Pro745Gln)
n.3268C>A
c.2447C>A (p.Pro816Gln)
n.3262C>A
Xg.53241855G>ACA413149365IQSEC2c.3103C>T (p.Pro1035Ser)
c.896C>T
c.405C>T
c.234C>T
c.7C>T (p.Pro3Ser)
c.2944C>T (p.Pro982Ser)
n.1251C>T
c.2914C>T (p.Pro972Ser)
c.2329C>T (p.Pro777Ser)
c.3040C>T (p.Pro1014Ser)
c.2266C>T (p.Pro756Ser)
c.2233C>T (p.Pro745Ser)
n.3267C>T
c.2446C>T (p.Pro816Ser)
n.3261C>T
Xg.53241855G>CCA413149369IQSEC2c.3103C>G (p.Pro1035Ala)
c.896C>G
c.405C>G
c.234C>G
c.7C>G (p.Pro3Ala)
c.2944C>G (p.Pro982Ala)
n.1251C>G
c.2914C>G (p.Pro972Ala)
c.2329C>G (p.Pro777Ala)
c.3040C>G (p.Pro1014Ala)
c.2266C>G (p.Pro756Ala)
c.2233C>G (p.Pro745Ala)
n.3267C>G
c.2446C>G (p.Pro816Ala)
n.3261C>G
Xg.53241855G>TCA413149372IQSEC2c.3103C>A (p.Pro1035Thr)
c.896C>A
c.405C>A
c.234C>A
c.7C>A (p.Pro3Thr)
c.2944C>A (p.Pro982Thr)
n.1251C>A
c.2914C>A (p.Pro972Thr)
c.2329C>A (p.Pro777Thr)
c.3040C>A (p.Pro1014Thr)
c.2266C>A (p.Pro756Thr)
c.2233C>A (p.Pro745Thr)
n.3267C>A
c.2446C>A (p.Pro816Thr)
n.3261C>A
Xg.53241856C>ACA516425010IQSEC2c.3102G>T (p.Val1034=)
c.895G>T
c.404G>T
c.233G>T
c.6G>T (p.Val2=)
c.2943G>T (p.Val981=)
n.1250G>T
c.2913G>T (p.Val971=)
c.2328G>T (p.Val776=)
c.3039G>T (p.Val1013=)
c.2265G>T (p.Val755=)
c.2232G>T (p.Val744=)
n.3266G>T
c.2445G>T (p.Val815=)
n.3260G>T
Xg.53241856C>GCA516425013IQSEC2c.3102G>C (p.Val1034=)
c.895G>C
c.404G>C
c.233G>C
c.6G>C (p.Val2=)
c.2943G>C (p.Val981=)
n.1250G>C
c.2913G>C (p.Val971=)
c.2328G>C (p.Val776=)
c.3039G>C (p.Val1013=)
c.2265G>C (p.Val755=)
c.2232G>C (p.Val744=)
n.3266G>C
c.2445G>C (p.Val815=)
n.3260G>C
Xg.53241856C>TCA516425011IQSEC2c.3102G>A (p.Val1034=)
c.895G>A
c.404G>A
c.233G>A
c.6G>A (p.Val2=)
c.2943G>A (p.Val981=)
n.1250G>A
c.2913G>A (p.Val971=)
c.2328G>A (p.Val776=)
c.3039G>A (p.Val1013=)
c.2265G>A (p.Val755=)
c.2232G>A (p.Val744=)
n.3266G>A
c.2445G>A (p.Val815=)
n.3260G>A
 ClinVar
Xg.53241857A>CCA413149390IQSEC2c.3101T>G (p.Val1034Gly)
c.894T>G
c.403T>G
c.232T>G
c.5T>G (p.Val2Gly)
c.2942T>G (p.Val981Gly)
n.1249T>G
c.2912T>G (p.Val971Gly)
c.2327T>G (p.Val776Gly)
c.3038T>G (p.Val1013Gly)
c.2264T>G (p.Val755Gly)
c.2231T>G (p.Val744Gly)
n.3265T>G
c.2444T>G (p.Val815Gly)
n.3259T>G
Xg.53241857A>GCA413149378IQSEC2c.3101T>C (p.Val1034Ala)
c.894T>C
c.403T>C
c.232T>C
c.5T>C (p.Val2Ala)
c.2942T>C (p.Val981Ala)
n.1249T>C
c.2912T>C (p.Val971Ala)
c.2327T>C (p.Val776Ala)
c.3038T>C (p.Val1013Ala)
c.2264T>C (p.Val755Ala)
c.2231T>C (p.Val744Ala)
n.3265T>C
c.2444T>C (p.Val815Ala)
n.3259T>C
Xg.53241857A>TCA413149387IQSEC2c.3101T>A (p.Val1034Glu)
c.894T>A
c.403T>A
c.232T>A
c.5T>A (p.Val2Glu)
c.2942T>A (p.Val981Glu)
n.1249T>A
c.2912T>A (p.Val971Glu)
c.2327T>A (p.Val776Glu)
c.3038T>A (p.Val1013Glu)
c.2264T>A (p.Val755Glu)
c.2231T>A (p.Val744Glu)
n.3265T>A
c.2444T>A (p.Val815Glu)
n.3259T>A
Xg.53241858C>ACA413149395IQSEC2c.3100G>T (p.Val1034Leu)
c.893G>T
c.402G>T
c.231G>T
c.4G>T (p.Val2Leu)
c.2941G>T (p.Val981Leu)
n.1248G>T
c.2911G>T (p.Val971Leu)
c.2326G>T (p.Val776Leu)
c.3037G>T (p.Val1013Leu)
c.2263G>T (p.Val755Leu)
c.2230G>T (p.Val744Leu)
n.3264G>T
c.2443G>T (p.Val815Leu)
n.3258G>T
 ClinVar dbSNP gnomAD v4
Xg.53241858C=CA2429772818IQSEC2c.3100G= (p.Val1034=)
c.893G=
c.402G=
c.231G=
c.4G= (p.Val2=)
c.2941G= (p.Val981=)
n.1248G=
c.2911G= (p.Val971=)
c.2326G= (p.Val776=)
c.3037G= (p.Val1013=)
c.2263G= (p.Val755=)
c.2230G= (p.Val744=)
n.3264G=
c.2443G= (p.Val815=)
n.3258G=
Xg.53241858C>GCA413149399IQSEC2c.3100G>C (p.Val1034Leu)
c.893G>C
c.402G>C
c.231G>C
c.4G>C (p.Val2Leu)
c.2941G>C (p.Val981Leu)
n.1248G>C
c.2911G>C (p.Val971Leu)
c.2326G>C (p.Val776Leu)
c.3037G>C (p.Val1013Leu)
c.2263G>C (p.Val755Leu)
c.2230G>C (p.Val744Leu)
n.3264G>C
c.2443G>C (p.Val815Leu)
n.3258G>C
Xg.53241858C>TCA10419872IQSEC2c.3100G>A (p.Val1034Met)
c.893G>A
c.402G>A
c.231G>A
c.4G>A (p.Val2Met)
c.2941G>A (p.Val981Met)
n.1248G>A
c.2911G>A (p.Val971Met)
c.2326G>A (p.Val776Met)
c.3037G>A (p.Val1013Met)
c.2263G>A (p.Val755Met)
c.2230G>A (p.Val744Met)
n.3264G>A
c.2443G>A (p.Val815Met)
n.3258G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241859C>ACA413149405IQSEC2c.3099G>T (p.Glu1033Asp)
c.892G>T
c.401G>T
c.230G>T
c.3G>T (p.Glu1Asp)
c.2940G>T (p.Glu980Asp)
n.1247G>T
c.2910G>T (p.Glu970Asp)
c.2325G>T (p.Glu775Asp)
c.3036G>T (p.Glu1012Asp)
c.2262G>T (p.Glu754Asp)
c.2229G>T (p.Glu743Asp)
n.3263G>T
c.2442G>T (p.Glu814Asp)
n.3257G>T
Xg.53241859C=CA2429772819IQSEC2c.3099G= (p.Glu1033=)
c.892G=
c.401G=
c.230G=
c.3G= (p.Glu1=)
c.2940G= (p.Glu980=)
n.1247G=
c.2910G= (p.Glu970=)
c.2325G= (p.Glu775=)
c.3036G= (p.Glu1012=)
c.2262G= (p.Glu754=)
c.2229G= (p.Glu743=)
n.3263G=
c.2442G= (p.Glu814=)
n.3257G=
Xg.53241859C>GCA413149412IQSEC2c.3099G>C (p.Glu1033Asp)
c.892G>C
c.401G>C
c.230G>C
c.3G>C (p.Glu1Asp)
c.2940G>C (p.Glu980Asp)
n.1247G>C
c.2910G>C (p.Glu970Asp)
c.2325G>C (p.Glu775Asp)
c.3036G>C (p.Glu1012Asp)
c.2262G>C (p.Glu754Asp)
c.2229G>C (p.Glu743Asp)
n.3263G>C
c.2442G>C (p.Glu814Asp)
n.3257G>C
Xg.53241859C>TCA329164037IQSEC2c.3099G>A (p.Glu1033=)
c.892G>A
c.401G>A
c.230G>A
c.3G>A (p.Glu1=)
c.2940G>A (p.Glu980=)
n.1247G>A
c.2910G>A (p.Glu970=)
c.2325G>A (p.Glu775=)
c.3036G>A (p.Glu1012=)
c.2262G>A (p.Glu754=)
c.2229G>A (p.Glu743=)
n.3263G>A
c.2442G>A (p.Glu814=)
n.3257G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241860T>ACA413149415IQSEC2c.3098A>T (p.Glu1033Val)
c.891A>T
c.400A>T
c.229A>T
c.2A>T (p.Glu1Val)
c.2939A>T (p.Glu980Val)
n.1246A>T
c.2909A>T (p.Glu970Val)
c.2324A>T (p.Glu775Val)
c.3035A>T (p.Glu1012Val)
c.2261A>T (p.Glu754Val)
c.2228A>T (p.Glu743Val)
n.3262A>T
c.2441A>T (p.Glu814Val)
n.3256A>T
Xg.53241860T>CCA413149420IQSEC2c.3098A>G (p.Glu1033Gly)
c.891A>G
c.400A>G
c.229A>G
c.2A>G (p.Glu1Gly)
c.2939A>G (p.Glu980Gly)
n.1246A>G
c.2909A>G (p.Glu970Gly)
c.2324A>G (p.Glu775Gly)
c.3035A>G (p.Glu1012Gly)
c.2261A>G (p.Glu754Gly)
c.2228A>G (p.Glu743Gly)
n.3262A>G
c.2441A>G (p.Glu814Gly)
n.3256A>G
Xg.53241860T>GCA413149416IQSEC2c.3098A>C (p.Glu1033Ala)
c.891A>C
c.400A>C
c.229A>C
c.2A>C (p.Glu1Ala)
c.2939A>C (p.Glu980Ala)
n.1246A>C
c.2909A>C (p.Glu970Ala)
c.2324A>C (p.Glu775Ala)
c.3035A>C (p.Glu1012Ala)
c.2261A>C (p.Glu754Ala)
c.2228A>C (p.Glu743Ala)
n.3262A>C
c.2441A>C (p.Glu814Ala)
n.3256A>C
Xg.53241861C>ACA413149424IQSEC2c.3097G>T (p.Glu1033Ter)
c.890G>T
c.399G>T
c.228G>T
c.1G>T (p.Glu1Ter)
c.2938G>T (p.Glu980Ter)
n.1245G>T
c.2908G>T (p.Glu970Ter)
c.2323G>T (p.Glu775Ter)
c.3034G>T (p.Glu1012Ter)
c.2260G>T (p.Glu754Ter)
c.2227G>T (p.Glu743Ter)
n.3261G>T
c.2440G>T (p.Glu814Ter)
n.3255G>T
Xg.53241861C=CA2429772820IQSEC2c.3097G= (p.Glu1033=)
c.890G=
c.399G=
c.228G=
c.1G= (p.Glu1=)
c.2938G= (p.Glu980=)
n.1245G=
c.2908G= (p.Glu970=)
c.2323G= (p.Glu775=)
c.3034G= (p.Glu1012=)
c.2260G= (p.Glu754=)
c.2227G= (p.Glu743=)
n.3261G=
c.2440G= (p.Glu814=)
n.3255G=
Xg.53241861C>GCA413149428IQSEC2c.3097G>C (p.Glu1033Gln)
c.890G>C
c.399G>C
c.228G>C
c.1G>C (p.Glu1Gln)
c.2938G>C (p.Glu980Gln)
n.1245G>C
c.2908G>C (p.Glu970Gln)
c.2323G>C (p.Glu775Gln)
c.3034G>C (p.Glu1012Gln)
c.2260G>C (p.Glu754Gln)
c.2227G>C (p.Glu743Gln)
n.3261G>C
c.2440G>C (p.Glu814Gln)
n.3255G>C
Xg.53241861C>TCA413149435IQSEC2c.3097G>A (p.Glu1033Lys)
c.890G>A
c.399G>A
c.228G>A
c.1G>A (p.Glu1Lys)
c.2938G>A (p.Glu980Lys)
n.1245G>A
c.2908G>A (p.Glu970Lys)
c.2323G>A (p.Glu775Lys)
c.3034G>A (p.Glu1012Lys)
c.2260G>A (p.Glu754Lys)
c.2227G>A (p.Glu743Lys)
n.3261G>A
c.2440G>A (p.Glu814Lys)
n.3255G>A
 dbSNP gnomAD v2
Xg.53241862G>ACA10419873IQSEC2c.3096C>T (p.Tyr1032=)
c.889C>T
c.398C>T
c.227C>T
c.2937C>T (p.Tyr979=)
n.1244C>T
c.2907C>T (p.Tyr969=)
c.2322C>T (p.Tyr774=)
c.3033C>T (p.Tyr1011=)
c.2259C>T (p.Tyr753=)
c.2226C>T (p.Tyr742=)
n.3260C>T
c.2439C>T (p.Tyr813=)
n.3254C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53241862G>CCA413149440IQSEC2c.3096C>G (p.Tyr1032Ter)
c.889C>G
c.398C>G
c.227C>G
c.2937C>G (p.Tyr979Ter)
n.1244C>G
c.2907C>G (p.Tyr969Ter)
c.2322C>G (p.Tyr774Ter)
c.3033C>G (p.Tyr1011Ter)
c.2259C>G (p.Tyr753Ter)
c.2226C>G (p.Tyr742Ter)
n.3260C>G
c.2439C>G (p.Tyr813Ter)
n.3254C>G
Xg.53241862G=CA2429772821IQSEC2c.3096C= (p.Tyr1032=)
c.889C=
c.398C=
c.227C=
c.2937C= (p.Tyr979=)
n.1244C=
c.2907C= (p.Tyr969=)
c.2322C= (p.Tyr774=)
c.3033C= (p.Tyr1011=)
c.2259C= (p.Tyr753=)
c.2226C= (p.Tyr742=)
n.3260C=
c.2439C= (p.Tyr813=)
n.3254C=
Xg.53241862G>TCA413149446IQSEC2c.3096C>A (p.Tyr1032Ter)
c.889C>A
c.398C>A
c.227C>A
c.2937C>A (p.Tyr979Ter)
n.1244C>A
c.2907C>A (p.Tyr969Ter)
c.2322C>A (p.Tyr774Ter)
c.3033C>A (p.Tyr1011Ter)
c.2259C>A (p.Tyr753Ter)
c.2226C>A (p.Tyr742Ter)
n.3260C>A
c.2439C>A (p.Tyr813Ter)
n.3254C>A
Xg.53241863T>ACA413149448IQSEC2c.3095A>T (p.Tyr1032Phe)
c.888A>T
c.397A>T
c.226A>T
c.2936A>T (p.Tyr979Phe)
n.1243A>T
c.2906A>T (p.Tyr969Phe)
c.2321A>T (p.Tyr774Phe)
c.3032A>T (p.Tyr1011Phe)
c.2258A>T (p.Tyr753Phe)
c.2225A>T (p.Tyr742Phe)
n.3259A>T
c.2438A>T (p.Tyr813Phe)
n.3253A>T
Xg.53241863T>CCA413149451IQSEC2c.3095A>G (p.Tyr1032Cys)
c.888A>G
c.397A>G
c.226A>G
c.2936A>G (p.Tyr979Cys)
n.1243A>G
c.2906A>G (p.Tyr969Cys)
c.2321A>G (p.Tyr774Cys)
c.3032A>G (p.Tyr1011Cys)
c.2258A>G (p.Tyr753Cys)
c.2225A>G (p.Tyr742Cys)
n.3259A>G
c.2438A>G (p.Tyr813Cys)
n.3253A>G
 gnomAD v4
Xg.53241863T>GCA413149454IQSEC2c.3095A>C (p.Tyr1032Ser)
c.888A>C
c.397A>C
c.226A>C
c.2936A>C (p.Tyr979Ser)
n.1243A>C
c.2906A>C (p.Tyr969Ser)
c.2321A>C (p.Tyr774Ser)
c.3032A>C (p.Tyr1011Ser)
c.2258A>C (p.Tyr753Ser)
c.2225A>C (p.Tyr742Ser)
n.3259A>C
c.2438A>C (p.Tyr813Ser)
n.3253A>C
Xg.53241864A>CCA413149459IQSEC2c.3094T>G (p.Tyr1032Asp)
c.887T>G
c.396T>G
c.225T>G
c.2935T>G (p.Tyr979Asp)
n.1242T>G
c.2905T>G (p.Tyr969Asp)
c.2320T>G (p.Tyr774Asp)
c.3031T>G (p.Tyr1011Asp)
c.2257T>G (p.Tyr753Asp)
c.2224T>G (p.Tyr742Asp)
n.3258T>G
c.2437T>G (p.Tyr813Asp)
n.3252T>G
Xg.53241864A>GCA413149461IQSEC2c.3094T>C (p.Tyr1032His)
c.887T>C
c.396T>C
c.225T>C
c.2935T>C (p.Tyr979His)
n.1242T>C
c.2905T>C (p.Tyr969His)
c.2320T>C (p.Tyr774His)
c.3031T>C (p.Tyr1011His)
c.2257T>C (p.Tyr753His)
c.2224T>C (p.Tyr742His)
n.3258T>C
c.2437T>C (p.Tyr813His)
n.3252T>C
 COSMIC COSMIC COSMIC
Xg.53241864A>TCA413149464IQSEC2c.3094T>A (p.Tyr1032Asn)
c.887T>A
c.396T>A
c.225T>A
c.2935T>A (p.Tyr979Asn)
n.1242T>A
c.2905T>A (p.Tyr969Asn)
c.2320T>A (p.Tyr774Asn)
c.3031T>A (p.Tyr1011Asn)
c.2257T>A (p.Tyr753Asn)
c.2224T>A (p.Tyr742Asn)
n.3258T>A
c.2437T>A (p.Tyr813Asn)
n.3252T>A
Xg.53241865G>ACA516425081IQSEC2c.3093C>T (p.Leu1031=)
c.886C>T
c.395C>T
c.224C>T
c.2934C>T (p.Leu978=)
n.1241C>T
c.2904C>T (p.Leu968=)
c.2319C>T (p.Leu773=)
c.3030C>T (p.Leu1010=)
c.2256C>T (p.Leu752=)
c.2223C>T (p.Leu741=)
n.3257C>T
c.2436C>T (p.Leu812=)
n.3251C>T
Xg.53241865G>CCA516425083IQSEC2c.3093C>G (p.Leu1031=)
c.886C>G
c.395C>G
c.224C>G
c.2934C>G (p.Leu978=)
n.1241C>G
c.2904C>G (p.Leu968=)
c.2319C>G (p.Leu773=)
c.3030C>G (p.Leu1010=)
c.2256C>G (p.Leu752=)
c.2223C>G (p.Leu741=)
n.3257C>G
c.2436C>G (p.Leu812=)
n.3251C>G
Xg.53241865G>TCA516425084IQSEC2c.3093C>A (p.Leu1031=)
c.886C>A
c.395C>A
c.224C>A
c.2934C>A (p.Leu978=)
n.1241C>A
c.2904C>A (p.Leu968=)
c.2319C>A (p.Leu773=)
c.3030C>A (p.Leu1010=)
c.2256C>A (p.Leu752=)
c.2223C>A (p.Leu741=)
n.3257C>A
c.2436C>A (p.Leu812=)
n.3251C>A
 COSMIC COSMIC COSMIC
Xg.53241866A>CCA413149475IQSEC2c.3092T>G (p.Leu1031Arg)
c.885T>G
c.394T>G
c.223T>G
c.2933T>G (p.Leu978Arg)
n.1240T>G
c.2903T>G (p.Leu968Arg)
c.2318T>G (p.Leu773Arg)
c.3029T>G (p.Leu1010Arg)
c.2255T>G (p.Leu752Arg)
c.2222T>G (p.Leu741Arg)
n.3256T>G
c.2435T>G (p.Leu812Arg)
n.3250T>G
Xg.53241866A>GCA413149477IQSEC2c.3092T>C (p.Leu1031Pro)
c.885T>C
c.394T>C
c.223T>C
c.2933T>C (p.Leu978Pro)
n.1240T>C
c.2903T>C (p.Leu968Pro)
c.2318T>C (p.Leu773Pro)
c.3029T>C (p.Leu1010Pro)
c.2255T>C (p.Leu752Pro)
c.2222T>C (p.Leu741Pro)
n.3256T>C
c.2435T>C (p.Leu812Pro)
n.3250T>C
Xg.53241866A>TCA413149469IQSEC2c.3092T>A (p.Leu1031His)
c.885T>A
c.394T>A
c.223T>A
c.2933T>A (p.Leu978His)
n.1240T>A
c.2903T>A (p.Leu968His)
c.2318T>A (p.Leu773His)
c.3029T>A (p.Leu1010His)
c.2255T>A (p.Leu752His)
c.2222T>A (p.Leu741His)
n.3256T>A
c.2435T>A (p.Leu812His)
n.3250T>A
Xg.53241867G>ACA413149493IQSEC2c.3091C>T (p.Leu1031Phe)
c.884C>T
c.393C>T
c.222C>T
c.2932C>T (p.Leu978Phe)
n.1239C>T
c.2902C>T (p.Leu968Phe)
c.2317C>T (p.Leu773Phe)
c.3028C>T (p.Leu1010Phe)
c.2254C>T (p.Leu752Phe)
c.2221C>T (p.Leu741Phe)
n.3255C>T
c.2434C>T (p.Leu812Phe)
n.3249C>T
Xg.53241867G>CCA413149482IQSEC2c.3091C>G (p.Leu1031Val)
c.884C>G
c.393C>G
c.222C>G
c.2932C>G (p.Leu978Val)
n.1239C>G
c.2902C>G (p.Leu968Val)
c.2317C>G (p.Leu773Val)
c.3028C>G (p.Leu1010Val)
c.2254C>G (p.Leu752Val)
c.2221C>G (p.Leu741Val)
n.3255C>G
c.2434C>G (p.Leu812Val)
n.3249C>G
Xg.53241867G>TCA413149496IQSEC2c.3091C>A (p.Leu1031Ile)
c.884C>A
c.393C>A
c.222C>A
c.2932C>A (p.Leu978Ile)
n.1239C>A
c.2902C>A (p.Leu968Ile)
c.2317C>A (p.Leu773Ile)
c.3028C>A (p.Leu1010Ile)
c.2254C>A (p.Leu752Ile)
c.2221C>A (p.Leu741Ile)
n.3255C>A
c.2434C>A (p.Leu812Ile)
n.3249C>A
Xg.53241868C>ACA413149501IQSEC2c.3090G>T (p.Gln1030His)
c.883G>T
c.392G>T
c.221G>T
c.2931G>T (p.Gln977His)
n.1238G>T
c.2901G>T (p.Gln967His)
c.2316G>T (p.Gln772His)
c.3027G>T (p.Gln1009His)
c.2253G>T (p.Gln751His)
c.2220G>T (p.Gln740His)
n.3254G>T
c.2433G>T (p.Gln811His)
n.3248G>T
Xg.53241868C=CA2429772822IQSEC2c.3090G= (p.Gln1030=)
c.883G=
c.392G=
c.221G=
c.2931G= (p.Gln977=)
n.1238G=
c.2901G= (p.Gln967=)
c.2316G= (p.Gln772=)
c.3027G= (p.Gln1009=)
c.2253G= (p.Gln751=)
c.2220G= (p.Gln740=)
n.3254G=
c.2433G= (p.Gln811=)
n.3248G=
Xg.53241868C>GCA413149507IQSEC2c.3090G>C (p.Gln1030His)
c.883G>C
c.392G>C
c.221G>C
c.2931G>C (p.Gln977His)
n.1238G>C
c.2901G>C (p.Gln967His)
c.2316G>C (p.Gln772His)
c.3027G>C (p.Gln1009His)
c.2253G>C (p.Gln751His)
c.2220G>C (p.Gln740His)
n.3254G>C
c.2433G>C (p.Gln811His)
n.3248G>C
Xg.53241868C>TCA10419874IQSEC2c.3090G>A (p.Gln1030=)
c.883G>A
c.392G>A
c.221G>A
c.2931G>A (p.Gln977=)
n.1238G>A
c.2901G>A (p.Gln967=)
c.2316G>A (p.Gln772=)
c.3027G>A (p.Gln1009=)
c.2253G>A (p.Gln751=)
c.2220G>A (p.Gln740=)
n.3254G>A
c.2433G>A (p.Gln811=)
n.3248G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241869T>ACA413149510IQSEC2c.3089A>T (p.Gln1030Leu)
c.882A>T
c.391A>T
c.220A>T
c.2930A>T (p.Gln977Leu)
n.1237A>T
c.2900A>T (p.Gln967Leu)
c.2315A>T (p.Gln772Leu)
c.3026A>T (p.Gln1009Leu)
c.2252A>T (p.Gln751Leu)
c.2219A>T (p.Gln740Leu)
n.3253A>T
c.2432A>T (p.Gln811Leu)
n.3247A>T
Xg.53241869T>CCA413149514IQSEC2c.3089A>G (p.Gln1030Arg)
c.882A>G
c.391A>G
c.220A>G
c.2930A>G (p.Gln977Arg)
n.1237A>G
c.2900A>G (p.Gln967Arg)
c.2315A>G (p.Gln772Arg)
c.3026A>G (p.Gln1009Arg)
c.2252A>G (p.Gln751Arg)
c.2219A>G (p.Gln740Arg)
n.3253A>G
c.2432A>G (p.Gln811Arg)
n.3247A>G
Xg.53241869T>GCA413149517IQSEC2c.3089A>C (p.Gln1030Pro)
c.882A>C
c.391A>C
c.220A>C
c.2930A>C (p.Gln977Pro)
n.1237A>C
c.2900A>C (p.Gln967Pro)
c.2315A>C (p.Gln772Pro)
c.3026A>C (p.Gln1009Pro)
c.2252A>C (p.Gln751Pro)
c.2219A>C (p.Gln740Pro)
n.3253A>C
c.2432A>C (p.Gln811Pro)
n.3247A>C
Xg.53241870G>ACA413149520IQSEC2c.3088C>T (p.Gln1030Ter)
c.881C>T
c.390C>T
c.219C>T
c.2929C>T (p.Gln977Ter)
n.1236C>T
c.2899C>T (p.Gln967Ter)
c.2314C>T (p.Gln772Ter)
c.3025C>T (p.Gln1009Ter)
c.2251C>T (p.Gln751Ter)
c.2218C>T (p.Gln740Ter)
n.3252C>T
c.2431C>T (p.Gln811Ter)
n.3246C>T
Xg.53241870G>CCA413149523IQSEC2c.3088C>G (p.Gln1030Glu)
c.881C>G
c.390C>G
c.219C>G
c.2929C>G (p.Gln977Glu)
n.1236C>G
c.2899C>G (p.Gln967Glu)
c.2314C>G (p.Gln772Glu)
c.3025C>G (p.Gln1009Glu)
c.2251C>G (p.Gln751Glu)
c.2218C>G (p.Gln740Glu)
n.3252C>G
c.2431C>G (p.Gln811Glu)
n.3246C>G
Xg.53241870G>TCA413149526IQSEC2c.3088C>A (p.Gln1030Lys)
c.881C>A
c.390C>A
c.219C>A
c.2929C>A (p.Gln977Lys)
n.1236C>A
c.2899C>A (p.Gln967Lys)
c.2314C>A (p.Gln772Lys)
c.3025C>A (p.Gln1009Lys)
c.2251C>A (p.Gln751Lys)
c.2218C>A (p.Gln740Lys)
n.3252C>A
c.2431C>A (p.Gln811Lys)
n.3246C>A
Xg.53241871G>ACA516425115IQSEC2c.3087C>T (p.Cys1029=)
c.880C>T
c.389C>T
c.218C>T
c.2928C>T (p.Cys976=)
n.1235C>T
c.2898C>T (p.Cys966=)
c.2313C>T (p.Cys771=)
c.3024C>T (p.Cys1008=)
c.2250C>T (p.Cys750=)
c.2217C>T (p.Cys739=)
n.3251C>T
c.2430C>T (p.Cys810=)
n.3245C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241871G>CCA413149530IQSEC2c.3087C>G (p.Cys1029Trp)
c.880C>G
c.389C>G
c.218C>G
c.2928C>G (p.Cys976Trp)
n.1235C>G
c.2898C>G (p.Cys966Trp)
c.2313C>G (p.Cys771Trp)
c.3024C>G (p.Cys1008Trp)
c.2250C>G (p.Cys750Trp)
c.2217C>G (p.Cys739Trp)
n.3251C>G
c.2430C>G (p.Cys810Trp)
n.3245C>G
Xg.53241871G=CA2429772823IQSEC2c.3087C= (p.Cys1029=)
c.880C=
c.389C=
c.218C=
c.2928C= (p.Cys976=)
n.1235C=
c.2898C= (p.Cys966=)
c.2313C= (p.Cys771=)
c.3024C= (p.Cys1008=)
c.2250C= (p.Cys750=)
c.2217C= (p.Cys739=)
n.3251C=
c.2430C= (p.Cys810=)
n.3245C=
Xg.53241871G>TCA413149533IQSEC2c.3087C>A (p.Cys1029Ter)
c.880C>A
c.389C>A
c.218C>A
c.2928C>A (p.Cys976Ter)
n.1235C>A
c.2898C>A (p.Cys966Ter)
c.2313C>A (p.Cys771Ter)
c.3024C>A (p.Cys1008Ter)
c.2250C>A (p.Cys750Ter)
c.2217C>A (p.Cys739Ter)
n.3251C>A
c.2430C>A (p.Cys810Ter)
n.3245C>A
Xg.53241872C>ACA413149538IQSEC2c.3086G>T (p.Cys1029Phe)
c.879G>T
c.388G>T
c.217G>T
c.2927G>T (p.Cys976Phe)
n.1234G>T
c.2897G>T (p.Cys966Phe)
c.2312G>T (p.Cys771Phe)
c.3023G>T (p.Cys1008Phe)
c.2249G>T (p.Cys750Phe)
c.2216G>T (p.Cys739Phe)
n.3250G>T
c.2429G>T (p.Cys810Phe)
n.3244G>T
Xg.53241872C>GCA413149540IQSEC2c.3086G>C (p.Cys1029Ser)
c.879G>C
c.388G>C
c.217G>C
c.2927G>C (p.Cys976Ser)
n.1234G>C
c.2897G>C (p.Cys966Ser)
c.2312G>C (p.Cys771Ser)
c.3023G>C (p.Cys1008Ser)
c.2249G>C (p.Cys750Ser)
c.2216G>C (p.Cys739Ser)
n.3250G>C
c.2429G>C (p.Cys810Ser)
n.3244G>C
Xg.53241872C>TCA413149545IQSEC2c.3086G>A (p.Cys1029Tyr)
c.879G>A
c.388G>A
c.217G>A
c.2927G>A (p.Cys976Tyr)
n.1234G>A
c.2897G>A (p.Cys966Tyr)
c.2312G>A (p.Cys771Tyr)
c.3023G>A (p.Cys1008Tyr)
c.2249G>A (p.Cys750Tyr)
c.2216G>A (p.Cys739Tyr)
n.3250G>A
c.2429G>A (p.Cys810Tyr)
n.3244G>A
Xg.53241873A>CCA413149548IQSEC2c.3085T>G (p.Cys1029Gly)
c.878T>G
c.387T>G
c.216T>G
c.2926T>G (p.Cys976Gly)
n.1233T>G
c.2896T>G (p.Cys966Gly)
c.2311T>G (p.Cys771Gly)
c.3022T>G (p.Cys1008Gly)
c.2248T>G (p.Cys750Gly)
c.2215T>G (p.Cys739Gly)
n.3249T>G
c.2428T>G (p.Cys810Gly)
n.3243T>G
Xg.53241873A>GCA413149551IQSEC2c.3085T>C (p.Cys1029Arg)
c.878T>C
c.387T>C
c.216T>C
c.2926T>C (p.Cys976Arg)
n.1233T>C
c.2896T>C (p.Cys966Arg)
c.2311T>C (p.Cys771Arg)
c.3022T>C (p.Cys1008Arg)
c.2248T>C (p.Cys750Arg)
c.2215T>C (p.Cys739Arg)
n.3249T>C
c.2428T>C (p.Cys810Arg)
n.3243T>C
Xg.53241873A>TCA413149554IQSEC2c.3085T>A (p.Cys1029Ser)
c.878T>A
c.387T>A
c.216T>A
c.2926T>A (p.Cys976Ser)
n.1233T>A
c.2896T>A (p.Cys966Ser)
c.2311T>A (p.Cys771Ser)
c.3022T>A (p.Cys1008Ser)
c.2248T>A (p.Cys750Ser)
c.2215T>A (p.Cys739Ser)
n.3249T>A
c.2428T>A (p.Cys810Ser)
n.3243T>A
Xg.53241874G>ACA516425141IQSEC2c.3084C>T (p.Cys1028=)
c.877C>T
c.386C>T
c.215C>T
c.2925C>T (p.Cys975=)
n.1232C>T
c.2895C>T (p.Cys965=)
c.2310C>T (p.Cys770=)
c.3021C>T (p.Cys1007=)
c.2247C>T (p.Cys749=)
c.2214C>T (p.Cys738=)
n.3248C>T
c.2427C>T (p.Cys809=)
n.3242C>T
Xg.53241874G>CCA413149561IQSEC2c.3084C>G (p.Cys1028Trp)
c.877C>G
c.386C>G
c.215C>G
c.2925C>G (p.Cys975Trp)
n.1232C>G
c.2895C>G (p.Cys965Trp)
c.2310C>G (p.Cys770Trp)
c.3021C>G (p.Cys1007Trp)
c.2247C>G (p.Cys749Trp)
c.2214C>G (p.Cys738Trp)
n.3248C>G
c.2427C>G (p.Cys809Trp)
n.3242C>G
Xg.53241874G>TCA413149558IQSEC2c.3084C>A (p.Cys1028Ter)
c.877C>A
c.386C>A
c.215C>A
c.2925C>A (p.Cys975Ter)
n.1232C>A
c.2895C>A (p.Cys965Ter)
c.2310C>A (p.Cys770Ter)
c.3021C>A (p.Cys1007Ter)
c.2247C>A (p.Cys749Ter)
c.2214C>A (p.Cys738Ter)
n.3248C>A
c.2427C>A (p.Cys809Ter)
n.3242C>A
Xg.53241875C>ACA413149566IQSEC2c.3083G>T (p.Cys1028Phe)
c.876G>T
c.385G>T
c.214G>T
c.2924G>T (p.Cys975Phe)
n.1231G>T
c.2894G>T (p.Cys965Phe)
c.2309G>T (p.Cys770Phe)
c.3020G>T (p.Cys1007Phe)
c.2246G>T (p.Cys749Phe)
c.2213G>T (p.Cys738Phe)
n.3247G>T
c.2426G>T (p.Cys809Phe)
n.3241G>T
Xg.53241875C=CA2429772824IQSEC2c.3083G= (p.Cys1028=)
c.876G=
c.385G=
c.214G=
c.2924G= (p.Cys975=)
n.1231G=
c.2894G= (p.Cys965=)
c.2309G= (p.Cys770=)
c.3020G= (p.Cys1007=)
c.2246G= (p.Cys749=)
c.2213G= (p.Cys738=)
n.3247G=
c.2426G= (p.Cys809=)
n.3241G=
Xg.53241875C>GCA413149568IQSEC2c.3083G>C (p.Cys1028Ser)
c.876G>C
c.385G>C
c.214G>C
c.2924G>C (p.Cys975Ser)
n.1231G>C
c.2894G>C (p.Cys965Ser)
c.2309G>C (p.Cys770Ser)
c.3020G>C (p.Cys1007Ser)
c.2246G>C (p.Cys749Ser)
c.2213G>C (p.Cys738Ser)
n.3247G>C
c.2426G>C (p.Cys809Ser)
n.3241G>C
Xg.53241875C>TCA413149571IQSEC2c.3083G>A (p.Cys1028Tyr)
c.876G>A
c.385G>A
c.214G>A
c.2924G>A (p.Cys975Tyr)
n.1231G>A
c.2894G>A (p.Cys965Tyr)
c.2309G>A (p.Cys770Tyr)
c.3020G>A (p.Cys1007Tyr)
c.2246G>A (p.Cys749Tyr)
c.2213G>A (p.Cys738Tyr)
n.3247G>A
c.2426G>A (p.Cys809Tyr)
n.3241G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53241876A>CCA413149575IQSEC2c.3082T>G (p.Cys1028Gly)
c.875T>G
c.384T>G
c.213T>G
c.2923T>G (p.Cys975Gly)
n.1230T>G
c.2893T>G (p.Cys965Gly)
c.2308T>G (p.Cys770Gly)
c.3019T>G (p.Cys1007Gly)
c.2245T>G (p.Cys749Gly)
c.2212T>G (p.Cys738Gly)
n.3246T>G
c.2425T>G (p.Cys809Gly)
n.3240T>G
Xg.53241876A>GCA413149578IQSEC2c.3082T>C (p.Cys1028Arg)
c.875T>C
c.384T>C
c.213T>C
c.2923T>C (p.Cys975Arg)
n.1230T>C
c.2893T>C (p.Cys965Arg)
c.2308T>C (p.Cys770Arg)
c.3019T>C (p.Cys1007Arg)
c.2245T>C (p.Cys749Arg)
c.2212T>C (p.Cys738Arg)
n.3246T>C
c.2425T>C (p.Cys809Arg)
n.3240T>C
 COSMIC COSMIC COSMIC
Xg.53241876A>TCA413149580IQSEC2c.3082T>A (p.Cys1028Ser)
c.875T>A
c.384T>A
c.213T>A
c.2923T>A (p.Cys975Ser)
n.1230T>A
c.2893T>A (p.Cys965Ser)
c.2308T>A (p.Cys770Ser)
c.3019T>A (p.Cys1007Ser)
c.2245T>A (p.Cys749Ser)
c.2212T>A (p.Cys738Ser)
n.3246T>A
c.2425T>A (p.Cys809Ser)
n.3240T>A
Xg.53241877G>ACA516425158IQSEC2c.3081C>T (p.Cys1027=)
c.874C>T
c.383C>T
c.212C>T
c.2922C>T (p.Cys974=)
n.1229C>T
c.2892C>T (p.Cys964=)
c.2307C>T (p.Cys769=)
c.3018C>T (p.Cys1006=)
c.2244C>T (p.Cys748=)
c.2211C>T (p.Cys737=)
n.3245C>T
c.2424C>T (p.Cys808=)
n.3239C>T
Xg.53241877G>CCA413149588IQSEC2c.3081C>G (p.Cys1027Trp)
c.874C>G
c.383C>G
c.212C>G
c.2922C>G (p.Cys974Trp)
n.1229C>G
c.2892C>G (p.Cys964Trp)
c.2307C>G (p.Cys769Trp)
c.3018C>G (p.Cys1006Trp)
c.2244C>G (p.Cys748Trp)
c.2211C>G (p.Cys737Trp)
n.3245C>G
c.2424C>G (p.Cys808Trp)
n.3239C>G
Xg.53241877G>TCA413149585IQSEC2c.3081C>A (p.Cys1027Ter)
c.874C>A
c.383C>A
c.212C>A
c.2922C>A (p.Cys974Ter)
n.1229C>A
c.2892C>A (p.Cys964Ter)
c.2307C>A (p.Cys769Ter)
c.3018C>A (p.Cys1006Ter)
c.2244C>A (p.Cys748Ter)
c.2211C>A (p.Cys737Ter)
n.3245C>A
c.2424C>A (p.Cys808Ter)
n.3239C>A
Xg.53241878C>ACA413149592IQSEC2c.3080G>T (p.Cys1027Phe)
c.873G>T
c.382G>T
c.211G>T
c.2921G>T (p.Cys974Phe)
n.1228G>T
c.2891G>T (p.Cys964Phe)
c.2306G>T (p.Cys769Phe)
c.3017G>T (p.Cys1006Phe)
c.2243G>T (p.Cys748Phe)
c.2210G>T (p.Cys737Phe)
n.3244G>T
c.2423G>T (p.Cys808Phe)
n.3238G>T
Xg.53241878C>GCA413149595IQSEC2c.3080G>C (p.Cys1027Ser)
c.873G>C
c.382G>C
c.211G>C
c.2921G>C (p.Cys974Ser)
n.1228G>C
c.2891G>C (p.Cys964Ser)
c.2306G>C (p.Cys769Ser)
c.3017G>C (p.Cys1006Ser)
c.2243G>C (p.Cys748Ser)
c.2210G>C (p.Cys737Ser)
n.3244G>C
c.2423G>C (p.Cys808Ser)
n.3238G>C
Xg.53241878C>TCA413149599IQSEC2c.3080G>A (p.Cys1027Tyr)
c.873G>A
c.382G>A
c.211G>A
c.2921G>A (p.Cys974Tyr)
n.1228G>A
c.2891G>A (p.Cys964Tyr)
c.2306G>A (p.Cys769Tyr)
c.3017G>A (p.Cys1006Tyr)
c.2243G>A (p.Cys748Tyr)
c.2210G>A (p.Cys737Tyr)
n.3244G>A
c.2423G>A (p.Cys808Tyr)
n.3238G>A
Xg.53241879A>CCA413149604IQSEC2c.3079T>G (p.Cys1027Gly)
c.872T>G
c.381T>G
c.210T>G
c.2920T>G (p.Cys974Gly)
n.1227T>G
c.2890T>G (p.Cys964Gly)
c.2305T>G (p.Cys769Gly)
c.3016T>G (p.Cys1006Gly)
c.2242T>G (p.Cys748Gly)
c.2209T>G (p.Cys737Gly)
n.3243T>G
c.2422T>G (p.Cys808Gly)
n.3237T>G
Xg.53241879A>GCA413149608IQSEC2c.3079T>C (p.Cys1027Arg)
c.872T>C
c.381T>C
c.210T>C
c.2920T>C (p.Cys974Arg)
n.1227T>C
c.2890T>C (p.Cys964Arg)
c.2305T>C (p.Cys769Arg)
c.3016T>C (p.Cys1006Arg)
c.2242T>C (p.Cys748Arg)
c.2209T>C (p.Cys737Arg)
n.3243T>C
c.2422T>C (p.Cys808Arg)
n.3237T>C
Xg.53241879A>TCA413149612IQSEC2c.3079T>A (p.Cys1027Ser)
c.872T>A
c.381T>A
c.210T>A
c.2920T>A (p.Cys974Ser)
n.1227T>A
c.2890T>A (p.Cys964Ser)
c.2305T>A (p.Cys769Ser)
c.3016T>A (p.Cys1006Ser)
c.2242T>A (p.Cys748Ser)
c.2209T>A (p.Cys737Ser)
n.3243T>A
c.2422T>A (p.Cys808Ser)
n.3237T>A
Xg.53241880A>CCA516425193IQSEC2c.3078T>G (p.Val1026=)
c.871T>G
c.380T>G
c.209T>G
c.2919T>G (p.Val973=)
n.1226T>G
c.2889T>G (p.Val963=)
c.2304T>G (p.Val768=)
c.3015T>G (p.Val1005=)
c.2241T>G (p.Val747=)
c.2208T>G (p.Val736=)
n.3242T>G
c.2421T>G (p.Val807=)
n.3236T>G
Xg.53241880A>GCA516425194IQSEC2c.3078T>C (p.Val1026=)
c.871T>C
c.380T>C
c.209T>C
c.2919T>C (p.Val973=)
n.1226T>C
c.2889T>C (p.Val963=)
c.2304T>C (p.Val768=)
c.3015T>C (p.Val1005=)
c.2241T>C (p.Val747=)
c.2208T>C (p.Val736=)
n.3242T>C
c.2421T>C (p.Val807=)
n.3236T>C
Xg.53241880A>TCA516425195IQSEC2c.3078T>A (p.Val1026=)
c.871T>A
c.380T>A
c.209T>A
c.2919T>A (p.Val973=)
n.1226T>A
c.2889T>A (p.Val963=)
c.2304T>A (p.Val768=)
c.3015T>A (p.Val1005=)
c.2241T>A (p.Val747=)
c.2208T>A (p.Val736=)
n.3242T>A
c.2421T>A (p.Val807=)
n.3236T>A
Xg.53241881A=CA2429772825IQSEC2c.3077T= (p.Val1026=)
c.870T=
c.379T=
c.208T=
c.2918T= (p.Val973=)
n.1225T=
c.2888T= (p.Val963=)
c.2303T= (p.Val768=)
c.3014T= (p.Val1005=)
c.2240T= (p.Val747=)
c.2207T= (p.Val736=)
n.3241T=
c.2420T= (p.Val807=)
n.3235T=
Xg.53241881A>CCA413149620IQSEC2c.3077T>G (p.Val1026Gly)
c.870T>G
c.379T>G
c.208T>G
c.2918T>G (p.Val973Gly)
n.1225T>G
c.2888T>G (p.Val963Gly)
c.2303T>G (p.Val768Gly)
c.3014T>G (p.Val1005Gly)
c.2240T>G (p.Val747Gly)
c.2207T>G (p.Val736Gly)
n.3241T>G
c.2420T>G (p.Val807Gly)
n.3235T>G
Xg.53241881A>GCA10419875IQSEC2c.3077T>C (p.Val1026Ala)
c.870T>C
c.379T>C
c.208T>C
c.2918T>C (p.Val973Ala)
n.1225T>C
c.2888T>C (p.Val963Ala)
c.2303T>C (p.Val768Ala)
c.3014T>C (p.Val1005Ala)
c.2240T>C (p.Val747Ala)
c.2207T>C (p.Val736Ala)
n.3241T>C
c.2420T>C (p.Val807Ala)
n.3235T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241881A>TCA413149622IQSEC2c.3077T>A (p.Val1026Asp)
c.870T>A
c.379T>A
c.208T>A
c.2918T>A (p.Val973Asp)
n.1225T>A
c.2888T>A (p.Val963Asp)
c.2303T>A (p.Val768Asp)
c.3014T>A (p.Val1005Asp)
c.2240T>A (p.Val747Asp)
c.2207T>A (p.Val736Asp)
n.3241T>A
c.2420T>A (p.Val807Asp)
n.3235T>A
Xg.53241882C>ACA413149630IQSEC2c.3076G>T (p.Val1026Phe)
c.869G>T
c.378G>T
c.207G>T
c.2917G>T (p.Val973Phe)
n.1224G>T
c.2887G>T (p.Val963Phe)
c.2302G>T (p.Val768Phe)
c.3013G>T (p.Val1005Phe)
c.2239G>T (p.Val747Phe)
c.2206G>T (p.Val736Phe)
n.3240G>T
c.2419G>T (p.Val807Phe)
n.3234G>T
Xg.53241882C>GCA413149634IQSEC2c.3076G>C (p.Val1026Leu)
c.869G>C
c.378G>C
c.207G>C
c.2917G>C (p.Val973Leu)
n.1224G>C
c.2887G>C (p.Val963Leu)
c.2302G>C (p.Val768Leu)
c.3013G>C (p.Val1005Leu)
c.2239G>C (p.Val747Leu)
c.2206G>C (p.Val736Leu)
n.3240G>C
c.2419G>C (p.Val807Leu)
n.3234G>C
Xg.53241882C>TCA413149635IQSEC2c.3076G>A (p.Val1026Ile)
c.869G>A
c.378G>A
c.207G>A
c.2917G>A (p.Val973Ile)
n.1224G>A
c.2887G>A (p.Val963Ile)
c.2302G>A (p.Val768Ile)
c.3013G>A (p.Val1005Ile)
c.2239G>A (p.Val747Ile)
c.2206G>A (p.Val736Ile)
n.3240G>A
c.2419G>A (p.Val807Ile)
n.3234G>A
Xg.53241883C>ACA516425216IQSEC2c.3075G>T (p.Leu1025=)
c.868G>T
c.377G>T
c.206G>T
c.2916G>T (p.Leu972=)
n.1223G>T
c.2886G>T (p.Leu962=)
c.2301G>T (p.Leu767=)
c.3012G>T (p.Leu1004=)
c.2238G>T (p.Leu746=)
c.2205G>T (p.Leu735=)
n.3239G>T
c.2418G>T (p.Leu806=)
n.3233G>T
Xg.53241883C>GCA516425221IQSEC2c.3075G>C (p.Leu1025=)
c.868G>C
c.377G>C
c.206G>C
c.2916G>C (p.Leu972=)
n.1223G>C
c.2886G>C (p.Leu962=)
c.2301G>C (p.Leu767=)
c.3012G>C (p.Leu1004=)
c.2238G>C (p.Leu746=)
c.2205G>C (p.Leu735=)
n.3239G>C
c.2418G>C (p.Leu806=)
n.3233G>C
Xg.53241883C>TCA516425219IQSEC2c.3075G>A (p.Leu1025=)
c.868G>A
c.377G>A
c.206G>A
c.2916G>A (p.Leu972=)
n.1223G>A
c.2886G>A (p.Leu962=)
c.2301G>A (p.Leu767=)
c.3012G>A (p.Leu1004=)
c.2238G>A (p.Leu746=)
c.2205G>A (p.Leu735=)
n.3239G>A
c.2418G>A (p.Leu806=)
n.3233G>A
Xg.53241884A=CA2429772826IQSEC2c.3074T= (p.Leu1025=)
c.867T=
c.376T=
c.205T=
c.2915T= (p.Leu972=)
n.1222T=
c.2885T= (p.Leu962=)
c.2300T= (p.Leu767=)
c.3011T= (p.Leu1004=)
c.2237T= (p.Leu746=)
c.2204T= (p.Leu735=)
n.3238T=
c.2417T= (p.Leu806=)
n.3232T=
Xg.53241884A>CCA413149636IQSEC2c.3074T>G (p.Leu1025Arg)
c.867T>G
c.376T>G
c.205T>G
c.2915T>G (p.Leu972Arg)
n.1222T>G
c.2885T>G (p.Leu962Arg)
c.2300T>G (p.Leu767Arg)
c.3011T>G (p.Leu1004Arg)
c.2237T>G (p.Leu746Arg)
c.2204T>G (p.Leu735Arg)
n.3238T>G
c.2417T>G (p.Leu806Arg)
n.3232T>G
Xg.53241884A>GCA413149637IQSEC2c.3074T>C (p.Leu1025Pro)
c.867T>C
c.376T>C
c.205T>C
c.2915T>C (p.Leu972Pro)
n.1222T>C
c.2885T>C (p.Leu962Pro)
c.2300T>C (p.Leu767Pro)
c.3011T>C (p.Leu1004Pro)
c.2237T>C (p.Leu746Pro)
c.2204T>C (p.Leu735Pro)
n.3238T>C
c.2417T>C (p.Leu806Pro)
n.3232T>C
 dbSNP
Xg.53241884A>TCA413149638IQSEC2c.3074T>A (p.Leu1025Gln)
c.867T>A
c.376T>A
c.205T>A
c.2915T>A (p.Leu972Gln)
n.1222T>A
c.2885T>A (p.Leu962Gln)
c.2300T>A (p.Leu767Gln)
c.3011T>A (p.Leu1004Gln)
c.2237T>A (p.Leu746Gln)
c.2204T>A (p.Leu735Gln)
n.3238T>A
c.2417T>A (p.Leu806Gln)
n.3232T>A
Xg.53241885G>ACA516425236IQSEC2c.3073C>T (p.Leu1025=)
c.866C>T
c.375C>T
c.204C>T
c.2914C>T (p.Leu972=)
n.1221C>T
c.2884C>T (p.Leu962=)
c.2299C>T (p.Leu767=)
c.3010C>T (p.Leu1004=)
c.2236C>T (p.Leu746=)
c.2203C>T (p.Leu735=)
n.3237C>T
c.2416C>T (p.Leu806=)
n.3231C>T
 gnomAD v4
Xg.53241885G>CCA413149643IQSEC2c.3073C>G (p.Leu1025Val)
c.866C>G
c.375C>G
c.204C>G
c.2914C>G (p.Leu972Val)
n.1221C>G
c.2884C>G (p.Leu962Val)
c.2299C>G (p.Leu767Val)
c.3010C>G (p.Leu1004Val)
c.2236C>G (p.Leu746Val)
c.2203C>G (p.Leu735Val)
n.3237C>G
c.2416C>G (p.Leu806Val)
n.3231C>G
Xg.53241885G>TCA413149645IQSEC2c.3073C>A (p.Leu1025Met)
c.866C>A
c.375C>A
c.204C>A
c.2914C>A (p.Leu972Met)
n.1221C>A
c.2884C>A (p.Leu962Met)
c.2299C>A (p.Leu767Met)
c.3010C>A (p.Leu1004Met)
c.2236C>A (p.Leu746Met)
c.2203C>A (p.Leu735Met)
n.3237C>A
c.2416C>A (p.Leu806Met)
n.3231C>A
Xg.53241886T>ACA516425250IQSEC2c.3072A>T (p.Arg1024=)
c.865A>T
c.374A>T
c.203A>T
c.2913A>T (p.Arg971=)
n.1220A>T
c.2883A>T (p.Arg961=)
c.2298A>T (p.Arg766=)
c.3009A>T (p.Arg1003=)
c.2235A>T (p.Arg745=)
c.2202A>T (p.Arg734=)
n.3236A>T
c.2415A>T (p.Arg805=)
n.3230A>T
 gnomAD v4
Xg.53241886T>CCA516425254IQSEC2c.3072A>G (p.Arg1024=)
c.865A>G
c.374A>G
c.203A>G
c.2913A>G (p.Arg971=)
n.1220A>G
c.2883A>G (p.Arg961=)
c.2298A>G (p.Arg766=)
c.3009A>G (p.Arg1003=)
c.2235A>G (p.Arg745=)
c.2202A>G (p.Arg734=)
n.3236A>G
c.2415A>G (p.Arg805=)
n.3230A>G
Xg.53241886T>GCA516425255IQSEC2c.3072A>C (p.Arg1024=)
c.865A>C
c.374A>C
c.203A>C
c.2913A>C (p.Arg971=)
n.1220A>C
c.2883A>C (p.Arg961=)
c.2298A>C (p.Arg766=)
c.3009A>C (p.Arg1003=)
c.2235A>C (p.Arg745=)
c.2202A>C (p.Arg734=)
n.3236A>C
c.2415A>C (p.Arg805=)
n.3230A>C
Xg.53241887C>ACA413149652IQSEC2c.3071G>T (p.Arg1024Leu)
c.864G>T
c.373G>T
c.202G>T
c.2912G>T (p.Arg971Leu)
n.1219G>T
c.2882G>T (p.Arg961Leu)
c.2297G>T (p.Arg766Leu)
c.3008G>T (p.Arg1003Leu)
c.2234G>T (p.Arg745Leu)
c.2201G>T (p.Arg734Leu)
n.3235G>T
c.2414G>T (p.Arg805Leu)
n.3229G>T
Xg.53241887C>GCA413149659IQSEC2c.3071G>C (p.Arg1024Pro)
c.864G>C
c.373G>C
c.202G>C
c.2912G>C (p.Arg971Pro)
n.1219G>C
c.2882G>C (p.Arg961Pro)
c.2297G>C (p.Arg766Pro)
c.3008G>C (p.Arg1003Pro)
c.2234G>C (p.Arg745Pro)
c.2201G>C (p.Arg734Pro)
n.3235G>C
c.2414G>C (p.Arg805Pro)
n.3229G>C
Xg.53241887C>TCA413149662IQSEC2c.3071G>A (p.Arg1024Gln)
c.864G>A
c.373G>A
c.202G>A
c.2912G>A (p.Arg971Gln)
n.1219G>A
c.2882G>A (p.Arg961Gln)
c.2297G>A (p.Arg766Gln)
c.3008G>A (p.Arg1003Gln)
c.2234G>A (p.Arg745Gln)
c.2201G>A (p.Arg734Gln)
n.3235G>A
c.2414G>A (p.Arg805Gln)
n.3229G>A
Xg.53241888G>ACA413149665IQSEC2c.3070C>T (p.Arg1024Ter)
c.863C>T
c.372C>T
c.201C>T
c.2911C>T (p.Arg971Ter)
n.1218C>T
c.2881C>T (p.Arg961Ter)
c.2296C>T (p.Arg766Ter)
c.3007C>T (p.Arg1003Ter)
c.2233C>T (p.Arg745Ter)
c.2200C>T (p.Arg734Ter)
n.3234C>T
c.2413C>T (p.Arg805Ter)
n.3228C>T
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.53241888G>CCA413149668IQSEC2c.3070C>G (p.Arg1024Gly)
c.863C>G
c.372C>G
c.201C>G
c.2911C>G (p.Arg971Gly)
n.1218C>G
c.2881C>G (p.Arg961Gly)
c.2296C>G (p.Arg766Gly)
c.3007C>G (p.Arg1003Gly)
c.2233C>G (p.Arg745Gly)
c.2200C>G (p.Arg734Gly)
n.3234C>G
c.2413C>G (p.Arg805Gly)
n.3228C>G
Xg.53241888G=CA2429772827IQSEC2c.3070C= (p.Arg1024=)
c.863C=
c.372C=
c.201C=
c.2911C= (p.Arg971=)
n.1218C=
c.2881C= (p.Arg961=)
c.2296C= (p.Arg766=)
c.3007C= (p.Arg1003=)
c.2233C= (p.Arg745=)
c.2200C= (p.Arg734=)
n.3234C=
c.2413C= (p.Arg805=)
n.3228C=
Xg.53241888G>TCA516425260IQSEC2c.3070C>A (p.Arg1024=)
c.863C>A
c.372C>A
c.201C>A
c.2911C>A (p.Arg971=)
n.1218C>A
c.2881C>A (p.Arg961=)
c.2296C>A (p.Arg766=)
c.3007C>A (p.Arg1003=)
c.2233C>A (p.Arg745=)
c.2200C>A (p.Arg734=)
n.3234C>A
c.2413C>A (p.Arg805=)
n.3228C>A
Xg.53241889A>CCA516425261IQSEC2c.3069T>G (p.Arg1023=)
c.862T>G
c.371T>G
c.200T>G
c.2910T>G (p.Arg970=)
n.1217T>G
c.2880T>G (p.Arg960=)
c.2295T>G (p.Arg765=)
c.3006T>G (p.Arg1002=)
c.2232T>G (p.Arg744=)
c.2199T>G (p.Arg733=)
n.3233T>G
c.2412T>G (p.Arg804=)
n.3227T>G
Xg.53241889A>GCA516425263IQSEC2c.3069T>C (p.Arg1023=)
c.862T>C
c.371T>C
c.200T>C
c.2910T>C (p.Arg970=)
n.1217T>C
c.2880T>C (p.Arg960=)
c.2295T>C (p.Arg765=)
c.3006T>C (p.Arg1002=)
c.2232T>C (p.Arg744=)
c.2199T>C (p.Arg733=)
n.3233T>C
c.2412T>C (p.Arg804=)
n.3227T>C
Xg.53241889A>TCA516425266IQSEC2c.3069T>A (p.Arg1023=)
c.862T>A
c.371T>A
c.200T>A
c.2910T>A (p.Arg970=)
n.1217T>A
c.2880T>A (p.Arg960=)
c.2295T>A (p.Arg765=)
c.3006T>A (p.Arg1002=)
c.2232T>A (p.Arg744=)
c.2199T>A (p.Arg733=)
n.3233T>A
c.2412T>A (p.Arg804=)
n.3227T>A
Xg.53241890C>ACA413149681IQSEC2c.3068G>T (p.Arg1023Leu)
c.861G>T
c.370G>T
c.199G>T
c.2909G>T (p.Arg970Leu)
n.1216G>T
c.2879G>T (p.Arg960Leu)
c.2294G>T (p.Arg765Leu)
c.3005G>T (p.Arg1002Leu)
c.2231G>T (p.Arg744Leu)
c.2198G>T (p.Arg733Leu)
n.3232G>T
c.2411G>T (p.Arg804Leu)
n.3226G>T
Xg.53241890C=CA2429772828IQSEC2c.3068G= (p.Arg1023=)
c.861G=
c.370G=
c.199G=
c.2909G= (p.Arg970=)
n.1216G=
c.2879G= (p.Arg960=)
c.2294G= (p.Arg765=)
c.3005G= (p.Arg1002=)
c.2231G= (p.Arg744=)
c.2198G= (p.Arg733=)
n.3232G=
c.2411G= (p.Arg804=)
n.3226G=
Xg.53241890C>GCA413149672IQSEC2c.3068G>C (p.Arg1023Pro)
c.861G>C
c.370G>C
c.199G>C
c.2909G>C (p.Arg970Pro)
n.1216G>C
c.2879G>C (p.Arg960Pro)
c.2294G>C (p.Arg765Pro)
c.3005G>C (p.Arg1002Pro)
c.2231G>C (p.Arg744Pro)
c.2198G>C (p.Arg733Pro)
n.3232G>C
c.2411G>C (p.Arg804Pro)
n.3226G>C
Xg.53241890C>TCA413149676IQSEC2c.3068G>A (p.Arg1023His)
c.861G>A
c.370G>A
c.199G>A
c.2909G>A (p.Arg970His)
n.1216G>A
c.2879G>A (p.Arg960His)
c.2294G>A (p.Arg765His)
c.3005G>A (p.Arg1002His)
c.2231G>A (p.Arg744His)
c.2198G>A (p.Arg733His)
n.3232G>A
c.2411G>A (p.Arg804His)
n.3226G>A
 ClinVar dbSNP
Xg.53241891G>ACA413149688IQSEC2c.3067C>T (p.Arg1023Cys)
c.860C>T
c.369C>T
c.198C>T
c.2908C>T (p.Arg970Cys)
n.1215C>T
c.2878C>T (p.Arg960Cys)
c.2293C>T (p.Arg765Cys)
c.3004C>T (p.Arg1002Cys)
c.2230C>T (p.Arg744Cys)
c.2197C>T (p.Arg733Cys)
n.3231C>T
c.2410C>T (p.Arg804Cys)
n.3225C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53241891G>CCA413149691IQSEC2c.3067C>G (p.Arg1023Gly)
c.860C>G
c.369C>G
c.198C>G
c.2908C>G (p.Arg970Gly)
n.1215C>G
c.2878C>G (p.Arg960Gly)
c.2293C>G (p.Arg765Gly)
c.3004C>G (p.Arg1002Gly)
c.2230C>G (p.Arg744Gly)
c.2197C>G (p.Arg733Gly)
n.3231C>G
c.2410C>G (p.Arg804Gly)
n.3225C>G
Xg.53241891G=CA2429772829IQSEC2c.3067C= (p.Arg1023=)
c.860C=
c.369C=
c.198C=
c.2908C= (p.Arg970=)
n.1215C=
c.2878C= (p.Arg960=)
c.2293C= (p.Arg765=)
c.3004C= (p.Arg1002=)
c.2230C= (p.Arg744=)
c.2197C= (p.Arg733=)
n.3231C=
c.2410C= (p.Arg804=)
n.3225C=
Xg.53241891G>TCA413149693IQSEC2c.3067C>A (p.Arg1023Ser)
c.860C>A
c.369C>A
c.198C>A
c.2908C>A (p.Arg970Ser)
n.1215C>A
c.2878C>A (p.Arg960Ser)
c.2293C>A (p.Arg765Ser)
c.3004C>A (p.Arg1002Ser)
c.2230C>A (p.Arg744Ser)
c.2197C>A (p.Arg733Ser)
n.3231C>A
c.2410C>A (p.Arg804Ser)
n.3225C>A
Xg.53241892G>ACA516425282IQSEC2c.3066C>T (p.His1022=)
c.859C>T
c.368C>T
c.197C>T
c.2907C>T (p.His969=)
n.1214C>T
c.2877C>T (p.His959=)
c.2292C>T (p.His764=)
c.3003C>T (p.His1001=)
c.2229C>T (p.His743=)
c.2196C>T (p.His732=)
n.3230C>T
c.2409C>T (p.His803=)
n.3224C>T
 gnomAD v4
Xg.53241892G>CCA413149695IQSEC2c.3066C>G (p.His1022Gln)
c.859C>G
c.368C>G
c.197C>G
c.2907C>G (p.His969Gln)
n.1214C>G
c.2877C>G (p.His959Gln)
c.2292C>G (p.His764Gln)
c.3003C>G (p.His1001Gln)
c.2229C>G (p.His743Gln)
c.2196C>G (p.His732Gln)
n.3230C>G
c.2409C>G (p.His803Gln)
n.3224C>G
Xg.53241892G>TCA413149698IQSEC2c.3066C>A (p.His1022Gln)
c.859C>A
c.368C>A
c.197C>A
c.2907C>A (p.His969Gln)
n.1214C>A
c.2877C>A (p.His959Gln)
c.2292C>A (p.His764Gln)
c.3003C>A (p.His1001Gln)
c.2229C>A (p.His743Gln)
c.2196C>A (p.His732Gln)
n.3230C>A
c.2409C>A (p.His803Gln)
n.3224C>A
 COSMIC COSMIC COSMIC
Xg.53241893T>ACA413149702IQSEC2c.3065A>T (p.His1022Leu)
c.858A>T
c.367A>T
c.196A>T
c.2906A>T (p.His969Leu)
n.1213A>T
c.2876A>T (p.His959Leu)
c.2291A>T (p.His764Leu)
c.3002A>T (p.His1001Leu)
c.2228A>T (p.His743Leu)
c.2195A>T (p.His732Leu)
n.3229A>T
c.2408A>T (p.His803Leu)
n.3223A>T
Xg.53241893T>CCA413149706IQSEC2c.3065A>G (p.His1022Arg)
c.858A>G
c.367A>G
c.196A>G
c.2906A>G (p.His969Arg)
n.1213A>G
c.2876A>G (p.His959Arg)
c.2291A>G (p.His764Arg)
c.3002A>G (p.His1001Arg)
c.2228A>G (p.His743Arg)
c.2195A>G (p.His732Arg)
n.3229A>G
c.2408A>G (p.His803Arg)
n.3223A>G
 gnomAD v4
Xg.53241893T>GCA413149708IQSEC2c.3065A>C (p.His1022Pro)
c.858A>C
c.367A>C
c.196A>C
c.2906A>C (p.His969Pro)
n.1213A>C
c.2876A>C (p.His959Pro)
c.2291A>C (p.His764Pro)
c.3002A>C (p.His1001Pro)
c.2228A>C (p.His743Pro)
c.2195A>C (p.His732Pro)
n.3229A>C
c.2408A>C (p.His803Pro)
n.3223A>C
Xg.53241894G>ACA413149713IQSEC2c.3064C>T (p.His1022Tyr)
c.857C>T
c.366C>T
c.195C>T
c.2905C>T (p.His969Tyr)
n.1212C>T
c.2875C>T (p.His959Tyr)
c.2290C>T (p.His764Tyr)
c.3001C>T (p.His1001Tyr)
c.2227C>T (p.His743Tyr)
c.2194C>T (p.His732Tyr)
n.3228C>T
c.2407C>T (p.His803Tyr)
n.3222C>T
Xg.53241894G>CCA413149715IQSEC2c.3064C>G (p.His1022Asp)
c.857C>G
c.366C>G
c.195C>G
c.2905C>G (p.His969Asp)
n.1212C>G
c.2875C>G (p.His959Asp)
c.2290C>G (p.His764Asp)
c.3001C>G (p.His1001Asp)
c.2227C>G (p.His743Asp)
c.2194C>G (p.His732Asp)
n.3228C>G
c.2407C>G (p.His803Asp)
n.3222C>G
Xg.53241894G>TCA413149719IQSEC2c.3064C>A (p.His1022Asn)
c.857C>A
c.366C>A
c.195C>A
c.2905C>A (p.His969Asn)
n.1212C>A
c.2875C>A (p.His959Asn)
c.2290C>A (p.His764Asn)
c.3001C>A (p.His1001Asn)
c.2227C>A (p.His743Asn)
c.2194C>A (p.His732Asn)
n.3228C>A
c.2407C>A (p.His803Asn)
n.3222C>A
Xg.53241895A>CCA516425293IQSEC2c.3063T>G (p.Pro1021=)
c.856T>G
c.365T>G
c.194T>G
c.2904T>G (p.Pro968=)
n.1211T>G
c.2874T>G (p.Pro958=)
c.2289T>G (p.Pro763=)
c.3000T>G (p.Pro1000=)
c.2226T>G (p.Pro742=)
c.2193T>G (p.Pro731=)
n.3227T>G
c.2406T>G (p.Pro802=)
n.3221T>G
Xg.53241895A>GCA516425297IQSEC2c.3063T>C (p.Pro1021=)
c.856T>C
c.365T>C
c.194T>C
c.2904T>C (p.Pro968=)
n.1211T>C
c.2874T>C (p.Pro958=)
c.2289T>C (p.Pro763=)
c.3000T>C (p.Pro1000=)
c.2226T>C (p.Pro742=)
c.2193T>C (p.Pro731=)
n.3227T>C
c.2406T>C (p.Pro802=)
n.3221T>C
Xg.53241895A>TCA516425300IQSEC2c.3063T>A (p.Pro1021=)
c.856T>A
c.365T>A
c.194T>A
c.2904T>A (p.Pro968=)
n.1211T>A
c.2874T>A (p.Pro958=)
c.2289T>A (p.Pro763=)
c.3000T>A (p.Pro1000=)
c.2226T>A (p.Pro742=)
c.2193T>A (p.Pro731=)
n.3227T>A
c.2406T>A (p.Pro802=)
n.3221T>A
Xg.53241896G>ACA413149724IQSEC2c.3062C>T (p.Pro1021Leu)
c.855C>T
c.364C>T
c.193C>T
c.2903C>T (p.Pro968Leu)
n.1210C>T
c.2873C>T (p.Pro958Leu)
c.2288C>T (p.Pro763Leu)
c.2999C>T (p.Pro1000Leu)
c.2225C>T (p.Pro742Leu)
c.2192C>T (p.Pro731Leu)
n.3226C>T
c.2405C>T (p.Pro802Leu)
n.3220C>T
Xg.53241896G>CCA413149742IQSEC2c.3062C>G (p.Pro1021Arg)
c.855C>G
c.364C>G
c.193C>G
c.2903C>G (p.Pro968Arg)
n.1210C>G
c.2873C>G (p.Pro958Arg)
c.2288C>G (p.Pro763Arg)
c.2999C>G (p.Pro1000Arg)
c.2225C>G (p.Pro742Arg)
c.2192C>G (p.Pro731Arg)
n.3226C>G
c.2405C>G (p.Pro802Arg)
n.3220C>G
Xg.53241896G>TCA413149736IQSEC2c.3062C>A (p.Pro1021His)
c.855C>A
c.364C>A
c.193C>A
c.2903C>A (p.Pro968His)
n.1210C>A
c.2873C>A (p.Pro958His)
c.2288C>A (p.Pro763His)
c.2999C>A (p.Pro1000His)
c.2225C>A (p.Pro742His)
c.2192C>A (p.Pro731His)
n.3226C>A
c.2405C>A (p.Pro802His)
n.3220C>A
Xg.53241897G>ACA413149747IQSEC2c.3061C>T (p.Pro1021Ser)
c.854C>T
c.363C>T
c.192C>T
c.2902C>T (p.Pro968Ser)
n.1209C>T
c.2872C>T (p.Pro958Ser)
c.2287C>T (p.Pro763Ser)
c.2998C>T (p.Pro1000Ser)
c.2224C>T (p.Pro742Ser)
c.2191C>T (p.Pro731Ser)
n.3225C>T
c.2404C>T (p.Pro802Ser)
n.3219C>T
Xg.53241897G>CCA413149748IQSEC2c.3061C>G (p.Pro1021Ala)
c.854C>G
c.363C>G
c.192C>G
c.2902C>G (p.Pro968Ala)
n.1209C>G
c.2872C>G (p.Pro958Ala)
c.2287C>G (p.Pro763Ala)
c.2998C>G (p.Pro1000Ala)
c.2224C>G (p.Pro742Ala)
c.2191C>G (p.Pro731Ala)
n.3225C>G
c.2404C>G (p.Pro802Ala)
n.3219C>G
Xg.53241897G>TCA413149751IQSEC2c.3061C>A (p.Pro1021Thr)
c.854C>A
c.363C>A
c.192C>A
c.2902C>A (p.Pro968Thr)
n.1209C>A
c.2872C>A (p.Pro958Thr)
c.2287C>A (p.Pro763Thr)
c.2998C>A (p.Pro1000Thr)
c.2224C>A (p.Pro742Thr)
c.2191C>A (p.Pro731Thr)
n.3225C>A
c.2404C>A (p.Pro802Thr)
n.3219C>A
Xg.53241898G>ACA516425305IQSEC2c.3060C>T (p.Leu1020=)
c.853C>T
c.362C>T
c.191C>T
c.2901C>T (p.Leu967=)
n.1208C>T
c.2871C>T (p.Leu957=)
c.2286C>T (p.Leu762=)
c.2997C>T (p.Leu999=)
c.2223C>T (p.Leu741=)
c.2190C>T (p.Leu730=)
n.3224C>T
c.2403C>T (p.Leu801=)
n.3218C>T
Xg.53241898G>CCA516425307IQSEC2c.3060C>G (p.Leu1020=)
c.853C>G
c.362C>G
c.191C>G
c.2901C>G (p.Leu967=)
n.1208C>G
c.2871C>G (p.Leu957=)
c.2286C>G (p.Leu762=)
c.2997C>G (p.Leu999=)
c.2223C>G (p.Leu741=)
c.2190C>G (p.Leu730=)
n.3224C>G
c.2403C>G (p.Leu801=)
n.3218C>G
Xg.53241898G>TCA516425310IQSEC2c.3060C>A (p.Leu1020=)
c.853C>A
c.362C>A
c.191C>A
c.2901C>A (p.Leu967=)
n.1208C>A
c.2871C>A (p.Leu957=)
c.2286C>A (p.Leu762=)
c.2997C>A (p.Leu999=)
c.2223C>A (p.Leu741=)
c.2190C>A (p.Leu730=)
n.3224C>A
c.2403C>A (p.Leu801=)
n.3218C>A
Xg.53241899A=CA2429772830IQSEC2c.3059T= (p.Leu1020=)
c.852T=
c.361T=
c.190T=
c.2900T= (p.Leu967=)
n.1207T=
c.2870T= (p.Leu957=)
c.2285T= (p.Leu762=)
c.2996T= (p.Leu999=)
c.2222T= (p.Leu741=)
c.2189T= (p.Leu730=)
n.3223T=
c.2402T= (p.Leu801=)
n.3217T=
Xg.53241899A>CCA413149756IQSEC2c.3059T>G (p.Leu1020Arg)
c.852T>G
c.361T>G
c.190T>G
c.2900T>G (p.Leu967Arg)
n.1207T>G
c.2870T>G (p.Leu957Arg)
c.2285T>G (p.Leu762Arg)
c.2996T>G (p.Leu999Arg)
c.2222T>G (p.Leu741Arg)
c.2189T>G (p.Leu730Arg)
n.3223T>G
c.2402T>G (p.Leu801Arg)
n.3217T>G
Xg.53241899A>GCA413149760IQSEC2c.3059T>C (p.Leu1020Pro)
c.852T>C
c.361T>C
c.190T>C
c.2900T>C (p.Leu967Pro)
n.1207T>C
c.2870T>C (p.Leu957Pro)
c.2285T>C (p.Leu762Pro)
c.2996T>C (p.Leu999Pro)
c.2222T>C (p.Leu741Pro)
c.2189T>C (p.Leu730Pro)
n.3223T>C
c.2402T>C (p.Leu801Pro)
n.3217T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.53241899A>TCA413149763IQSEC2c.3059T>A (p.Leu1020His)
c.852T>A
c.361T>A
c.190T>A
c.2900T>A (p.Leu967His)
n.1207T>A
c.2870T>A (p.Leu957His)
c.2285T>A (p.Leu762His)
c.2996T>A (p.Leu999His)
c.2222T>A (p.Leu741His)
c.2189T>A (p.Leu730His)
n.3223T>A
c.2402T>A (p.Leu801His)
n.3217T>A
Xg.53241900G>ACA413149783IQSEC2c.3058C>T (p.Leu1020Phe)
c.851C>T
c.360C>T
c.189C>T
c.2899C>T (p.Leu967Phe)
n.1206C>T
c.2869C>T (p.Leu957Phe)
c.2284C>T (p.Leu762Phe)
c.2995C>T (p.Leu999Phe)
c.2221C>T (p.Leu741Phe)
c.2188C>T (p.Leu730Phe)
n.3222C>T
c.2401C>T (p.Leu801Phe)
n.3216C>T
 gnomAD v4
Xg.53241900G>CCA413149779IQSEC2c.3058C>G (p.Leu1020Val)
c.851C>G
c.360C>G
c.189C>G
c.2899C>G (p.Leu967Val)
n.1206C>G
c.2869C>G (p.Leu957Val)
c.2284C>G (p.Leu762Val)
c.2995C>G (p.Leu999Val)
c.2221C>G (p.Leu741Val)
c.2188C>G (p.Leu730Val)
n.3222C>G
c.2401C>G (p.Leu801Val)
n.3216C>G
Xg.53241900G>TCA413149768IQSEC2c.3058C>A (p.Leu1020Ile)
c.851C>A
c.360C>A
c.189C>A
c.2899C>A (p.Leu967Ile)
n.1206C>A
c.2869C>A (p.Leu957Ile)
c.2284C>A (p.Leu762Ile)
c.2995C>A (p.Leu999Ile)
c.2221C>A (p.Leu741Ile)
c.2188C>A (p.Leu730Ile)
n.3222C>A
c.2401C>A (p.Leu801Ile)
n.3216C>A
Xg.53241901A>CCA516425331IQSEC2c.3057T>G (p.Ser1019=)
c.850T>G
c.359T>G
c.188T>G
c.2898T>G (p.Ser966=)
n.1205T>G
c.2868T>G (p.Ser956=)
c.2283T>G (p.Ser761=)
c.2994T>G (p.Ser998=)
c.2220T>G (p.Ser740=)
c.2187T>G (p.Ser729=)
n.3221T>G
c.2400T>G (p.Ser800=)
n.3215T>G
Xg.53241901A>GCA516425334IQSEC2c.3057T>C (p.Ser1019=)
c.850T>C
c.359T>C
c.188T>C
c.2898T>C (p.Ser966=)
n.1205T>C
c.2868T>C (p.Ser956=)
c.2283T>C (p.Ser761=)
c.2994T>C (p.Ser998=)
c.2220T>C (p.Ser740=)
c.2187T>C (p.Ser729=)
n.3221T>C
c.2400T>C (p.Ser800=)
n.3215T>C
Xg.53241901A>TCA516425337IQSEC2c.3057T>A (p.Ser1019=)
c.850T>A
c.359T>A
c.188T>A
c.2898T>A (p.Ser966=)
n.1205T>A
c.2868T>A (p.Ser956=)
c.2283T>A (p.Ser761=)
c.2994T>A (p.Ser998=)
c.2220T>A (p.Ser740=)
c.2187T>A (p.Ser729=)
n.3221T>A
c.2400T>A (p.Ser800=)
n.3215T>A
Xg.53241908_53241918delCA2695234292IQSEC2c.3049-2_3057del
c.842-2_850del
c.351-2_359del
c.180-2_188del
c.2890-2_2898del
n.1195_1205del
c.2860-2_2868del
c.2275-2_2283del
c.2986-2_2994del
c.2212-2_2220del
c.2179-2_2187del
n.3213-2_3221del
c.2392-2_2400del
n.3207-2_3215del
Xg.53241902G>ACA413149789IQSEC2c.3056C>T (p.Ser1019Phe)
c.849C>T
c.358C>T
c.187C>T
c.2897C>T (p.Ser966Phe)
n.1204C>T
c.2867C>T (p.Ser956Phe)
c.2282C>T (p.Ser761Phe)
c.2993C>T (p.Ser998Phe)
c.2219C>T (p.Ser740Phe)
c.2186C>T (p.Ser729Phe)
n.3220C>T
c.2399C>T (p.Ser800Phe)
n.3214C>T
Xg.53241902G>CCA413149792IQSEC2c.3056C>G (p.Ser1019Cys)
c.849C>G
c.358C>G
c.187C>G
c.2897C>G (p.Ser966Cys)
n.1204C>G
c.2867C>G (p.Ser956Cys)
c.2282C>G (p.Ser761Cys)
c.2993C>G (p.Ser998Cys)
c.2219C>G (p.Ser740Cys)
c.2186C>G (p.Ser729Cys)
n.3220C>G
c.2399C>G (p.Ser800Cys)
n.3214C>G
 gnomAD v4
Xg.53241902G>TCA413149795IQSEC2c.3056C>A (p.Ser1019Tyr)
c.849C>A
c.358C>A
c.187C>A
c.2897C>A (p.Ser966Tyr)
n.1204C>A
c.2867C>A (p.Ser956Tyr)
c.2282C>A (p.Ser761Tyr)
c.2993C>A (p.Ser998Tyr)
c.2219C>A (p.Ser740Tyr)
c.2186C>A (p.Ser729Tyr)
n.3220C>A
c.2399C>A (p.Ser800Tyr)
n.3214C>A
Xg.53241903A>CCA413149800IQSEC2c.3055T>G (p.Ser1019Ala)
c.848T>G
c.357T>G
c.186T>G
c.2896T>G (p.Ser966Ala)
n.1203T>G
c.2866T>G (p.Ser956Ala)
c.2281T>G (p.Ser761Ala)
c.2992T>G (p.Ser998Ala)
c.2218T>G (p.Ser740Ala)
c.2185T>G (p.Ser729Ala)
n.3219T>G
c.2398T>G (p.Ser800Ala)
n.3213T>G
Xg.53241903A>GCA413149803IQSEC2c.3055T>C (p.Ser1019Pro)
c.848T>C
c.357T>C
c.186T>C
c.2896T>C (p.Ser966Pro)
n.1203T>C
c.2866T>C (p.Ser956Pro)
c.2281T>C (p.Ser761Pro)
c.2992T>C (p.Ser998Pro)
c.2218T>C (p.Ser740Pro)
c.2185T>C (p.Ser729Pro)
n.3219T>C
c.2398T>C (p.Ser800Pro)
n.3213T>C
 gnomAD v4
Xg.53241903A>TCA413149806IQSEC2c.3055T>A (p.Ser1019Thr)
c.848T>A
c.357T>A
c.186T>A
c.2896T>A (p.Ser966Thr)
n.1203T>A
c.2866T>A (p.Ser956Thr)
c.2281T>A (p.Ser761Thr)
c.2992T>A (p.Ser998Thr)
c.2218T>A (p.Ser740Thr)
c.2185T>A (p.Ser729Thr)
n.3219T>A
c.2398T>A (p.Ser800Thr)
n.3213T>A
Xg.53241904C>ACA516425351IQSEC2c.3054G>T (p.Leu1018=)
c.847G>T
c.356G>T
c.185G>T
c.2895G>T (p.Leu965=)
n.1202G>T
c.2865G>T (p.Leu955=)
c.2280G>T (p.Leu760=)
c.2991G>T (p.Leu997=)
c.2217G>T (p.Leu739=)
c.2184G>T (p.Leu728=)
n.3218G>T
c.2397G>T (p.Leu799=)
n.3212G>T
Xg.53241904C>GCA516425353IQSEC2c.3054G>C (p.Leu1018=)
c.847G>C
c.356G>C
c.185G>C
c.2895G>C (p.Leu965=)
n.1202G>C
c.2865G>C (p.Leu955=)
c.2280G>C (p.Leu760=)
c.2991G>C (p.Leu997=)
c.2217G>C (p.Leu739=)
c.2184G>C (p.Leu728=)
n.3218G>C
c.2397G>C (p.Leu799=)
n.3212G>C
Xg.53241904C>TCA516425356IQSEC2c.3054G>A (p.Leu1018=)
c.847G>A
c.356G>A
c.185G>A
c.2895G>A (p.Leu965=)
n.1202G>A
c.2865G>A (p.Leu955=)
c.2280G>A (p.Leu760=)
c.2991G>A (p.Leu997=)
c.2217G>A (p.Leu739=)
c.2184G>A (p.Leu728=)
n.3218G>A
c.2397G>A (p.Leu799=)
n.3212G>A
Xg.53241905A=CA2429772831IQSEC2c.3053T= (p.Leu1018=)
c.846T=
c.355T=
c.184T=
c.2894T= (p.Leu965=)
n.1201T=
c.2864T= (p.Leu955=)
c.2279T= (p.Leu760=)
c.2990T= (p.Leu997=)
c.2216T= (p.Leu739=)
c.2183T= (p.Leu728=)
n.3217T=
c.2396T= (p.Leu799=)
n.3211T=
Xg.53241905A>CCA413149809IQSEC2c.3053T>G (p.Leu1018Arg)
c.846T>G
c.355T>G
c.184T>G
c.2894T>G (p.Leu965Arg)
n.1201T>G
c.2864T>G (p.Leu955Arg)
c.2279T>G (p.Leu760Arg)
c.2990T>G (p.Leu997Arg)
c.2216T>G (p.Leu739Arg)
c.2183T>G (p.Leu728Arg)
n.3217T>G
c.2396T>G (p.Leu799Arg)
n.3211T>G
Xg.53241905A>GCA413149816IQSEC2c.3053T>C (p.Leu1018Pro)
c.846T>C
c.355T>C
c.184T>C
c.2894T>C (p.Leu965Pro)
n.1201T>C
c.2864T>C (p.Leu955Pro)
c.2279T>C (p.Leu760Pro)
c.2990T>C (p.Leu997Pro)
c.2216T>C (p.Leu739Pro)
c.2183T>C (p.Leu728Pro)
n.3217T>C
c.2396T>C (p.Leu799Pro)
n.3211T>C
 ClinVar dbSNP
Xg.53241905A>TCA413149813IQSEC2c.3053T>A (p.Leu1018Gln)
c.846T>A
c.355T>A
c.184T>A
c.2894T>A (p.Leu965Gln)
n.1201T>A
c.2864T>A (p.Leu955Gln)
c.2279T>A (p.Leu760Gln)
c.2990T>A (p.Leu997Gln)
c.2216T>A (p.Leu739Gln)
c.2183T>A (p.Leu728Gln)
n.3217T>A
c.2396T>A (p.Leu799Gln)
n.3211T>A
Xg.53241906G>ACA516425364IQSEC2c.3052C>T (p.Leu1018=)
c.845C>T
c.354C>T
c.183C>T
c.2893C>T (p.Leu965=)
n.1200C>T
c.2863C>T (p.Leu955=)
c.2278C>T (p.Leu760=)
c.2989C>T (p.Leu997=)
c.2215C>T (p.Leu739=)
c.2182C>T (p.Leu728=)
n.3216C>T
c.2395C>T (p.Leu799=)
n.3210C>T
 gnomAD v4
Xg.53241906G>CCA413149817IQSEC2c.3052C>G (p.Leu1018Val)
c.845C>G
c.354C>G
c.183C>G
c.2893C>G (p.Leu965Val)
n.1200C>G
c.2863C>G (p.Leu955Val)
c.2278C>G (p.Leu760Val)
c.2989C>G (p.Leu997Val)
c.2215C>G (p.Leu739Val)
c.2182C>G (p.Leu728Val)
n.3216C>G
c.2395C>G (p.Leu799Val)
n.3210C>G
Xg.53241906G>TCA413149820IQSEC2c.3052C>A (p.Leu1018Met)
c.845C>A
c.354C>A
c.183C>A
c.2893C>A (p.Leu965Met)
n.1200C>A
c.2863C>A (p.Leu955Met)
c.2278C>A (p.Leu760Met)
c.2989C>A (p.Leu997Met)
c.2215C>A (p.Leu739Met)
c.2182C>A (p.Leu728Met)
n.3216C>A
c.2395C>A (p.Leu799Met)
n.3210C>A
Xg.53241907G>ACA516425369IQSEC2c.3051C>T (p.Val1017=)
c.844C>T
c.353C>T
c.182C>T
c.2892C>T (p.Val964=)
n.1199C>T
c.2862C>T (p.Val954=)
c.2277C>T (p.Val759=)
c.2988C>T (p.Val996=)
c.2214C>T (p.Val738=)
c.2181C>T (p.Val727=)
n.3215C>T
c.2394C>T (p.Val798=)
n.3209C>T
 gnomAD v4
Xg.53241907G>CCA516425372IQSEC2c.3051C>G (p.Val1017=)
c.844C>G
c.353C>G
c.182C>G
c.2892C>G (p.Val964=)
n.1199C>G
c.2862C>G (p.Val954=)
c.2277C>G (p.Val759=)
c.2988C>G (p.Val996=)
c.2214C>G (p.Val738=)
c.2181C>G (p.Val727=)
n.3215C>G
c.2394C>G (p.Val798=)
n.3209C>G
Xg.53241907G>TCA516425373IQSEC2c.3051C>A (p.Val1017=)
c.844C>A
c.353C>A
c.182C>A
c.2892C>A (p.Val964=)
n.1199C>A
c.2862C>A (p.Val954=)
c.2277C>A (p.Val759=)
c.2988C>A (p.Val996=)
c.2214C>A (p.Val738=)
c.2181C>A (p.Val727=)
n.3215C>A
c.2394C>A (p.Val798=)
n.3209C>A
Xg.53241908A>CCA413149828IQSEC2c.3050T>G (p.Val1017Gly)
c.843T>G
c.352T>G
c.181T>G
c.2891T>G (p.Val964Gly)
n.1198T>G
c.2861T>G (p.Val954Gly)
c.2276T>G (p.Val759Gly)
c.2987T>G (p.Val996Gly)
c.2213T>G (p.Val738Gly)
c.2180T>G (p.Val727Gly)
n.3214T>G
c.2393T>G (p.Val798Gly)
n.3208T>G
Xg.53241908A>GCA413149829IQSEC2c.3050T>C (p.Val1017Ala)
c.843T>C
c.352T>C
c.181T>C
c.2891T>C (p.Val964Ala)
n.1198T>C
c.2861T>C (p.Val954Ala)
c.2276T>C (p.Val759Ala)
c.2987T>C (p.Val996Ala)
c.2213T>C (p.Val738Ala)
c.2180T>C (p.Val727Ala)
n.3214T>C
c.2393T>C (p.Val798Ala)
n.3208T>C
Xg.53241908A>TCA413149831IQSEC2c.3050T>A (p.Val1017Asp)
c.843T>A
c.352T>A
c.181T>A
c.2891T>A (p.Val964Asp)
n.1198T>A
c.2861T>A (p.Val954Asp)
c.2276T>A (p.Val759Asp)
c.2987T>A (p.Val996Asp)
c.2213T>A (p.Val738Asp)
c.2180T>A (p.Val727Asp)
n.3214T>A
c.2393T>A (p.Val798Asp)
n.3208T>A
Xg.53241909C>ACA413149834IQSEC2c.3049G>T (p.Val1017Phe)
c.842G>T
c.351G>T
c.180G>T
c.2890G>T (p.Val964Phe)
n.1197G>T
c.2860G>T (p.Val954Phe)
c.2275G>T (p.Val759Phe)
c.2986G>T (p.Val996Phe)
c.2212G>T (p.Val738Phe)
c.2179G>T (p.Val727Phe)
n.3213G>T
c.2392G>T (p.Val798Phe)
n.3207G>T
Xg.53241909C>GCA413149836IQSEC2c.3049G>C (p.Val1017Leu)
c.842G>C
c.351G>C
c.180G>C
c.2890G>C (p.Val964Leu)
n.1197G>C
c.2860G>C (p.Val954Leu)
c.2275G>C (p.Val759Leu)
c.2986G>C (p.Val996Leu)
c.2212G>C (p.Val738Leu)
c.2179G>C (p.Val727Leu)
n.3213G>C
c.2392G>C (p.Val798Leu)
n.3207G>C
 gnomAD v4
Xg.53241909C>TCA413149838IQSEC2c.3049G>A (p.Val1017Ile)
c.842G>A
c.351G>A
c.180G>A
c.2890G>A (p.Val964Ile)
n.1197G>A
c.2860G>A (p.Val954Ile)
c.2275G>A (p.Val759Ile)
c.2986G>A (p.Val996Ile)
c.2212G>A (p.Val738Ile)
c.2179G>A (p.Val727Ile)
n.3213G>A
c.2392G>A (p.Val798Ile)
n.3207G>A
Xg.53241910C>ACA413149841IQSEC2c.3049-1G>T (n.3049-1G>T)
c.842-1G>T
c.351-1G>T
c.180-1G>T
c.2890-1G>T (n.2890-1G>T)
n.1196G>T
c.2860-1G>T (n.2860-1G>T)
c.2275-1G>T (n.2275-1G>T)
c.2986-1G>T (n.2986-1G>T)
c.2212-1G>T (n.2212-1G>T)
c.2179-1G>T (n.2179-1G>T)
n.3213-1G>T
c.2392-1G>T (n.2392-1G>T)
n.3207-1G>T
Xg.53241910C>GCA413149846IQSEC2c.3049-1G>C (n.3049-1G>C)
c.842-1G>C
c.351-1G>C
c.180-1G>C
c.2890-1G>C (n.2890-1G>C)
n.1196G>C
c.2860-1G>C (n.2860-1G>C)
c.2275-1G>C (n.2275-1G>C)
c.2986-1G>C (n.2986-1G>C)
c.2212-1G>C (n.2212-1G>C)
c.2179-1G>C (n.2179-1G>C)
n.3213-1G>C
c.2392-1G>C (n.2392-1G>C)
n.3207-1G>C
Xg.53241910C>TCA413149849IQSEC2c.3049-1G>A (n.3049-1G>A)
c.842-1G>A
c.351-1G>A
c.180-1G>A
c.2890-1G>A (n.2890-1G>A)
n.1196G>A
c.2860-1G>A (n.2860-1G>A)
c.2275-1G>A (n.2275-1G>A)
c.2986-1G>A (n.2986-1G>A)
c.2212-1G>A (n.2212-1G>A)
c.2179-1G>A (n.2179-1G>A)
n.3213-1G>A
c.2392-1G>A (n.2392-1G>A)
n.3207-1G>A
Xg.53241911T>ACA413149854IQSEC2c.3049-2A>T (n.3049-2A>T)
c.842-2A>T
c.351-2A>T
c.180-2A>T
c.2890-2A>T (n.2890-2A>T)
n.1195A>T
c.2860-2A>T (n.2860-2A>T)
c.2275-2A>T (n.2275-2A>T)
c.2986-2A>T (n.2986-2A>T)
c.2212-2A>T (n.2212-2A>T)
c.2179-2A>T (n.2179-2A>T)
n.3213-2A>T
c.2392-2A>T (n.2392-2A>T)
n.3207-2A>T
Xg.53241911T>CCA413149860IQSEC2c.3049-2A>G (n.3049-2A>G)
c.842-2A>G
c.351-2A>G
c.180-2A>G
c.2890-2A>G (n.2890-2A>G)
n.1195A>G
c.2860-2A>G (n.2860-2A>G)
c.2275-2A>G (n.2275-2A>G)
c.2986-2A>G (n.2986-2A>G)
c.2212-2A>G (n.2212-2A>G)
c.2179-2A>G (n.2179-2A>G)
n.3213-2A>G
c.2392-2A>G (n.2392-2A>G)
n.3207-2A>G
Xg.53241911T>GCA413149857IQSEC2c.3049-2A>C (n.3049-2A>C)
c.842-2A>C
c.351-2A>C
c.180-2A>C
c.2890-2A>C (n.2890-2A>C)
n.1195A>C
c.2860-2A>C (n.2860-2A>C)
c.2275-2A>C (n.2275-2A>C)
c.2986-2A>C (n.2986-2A>C)
c.2212-2A>C (n.2212-2A>C)
c.2179-2A>C (n.2179-2A>C)
n.3213-2A>C
c.2392-2A>C (n.2392-2A>C)
n.3207-2A>C
Xg.53241912A>CCA2573055361IQSEC2c.3049-3T>G (n.3049-3T>G)
c.842-3T>G
c.351-3T>G
c.180-3T>G
c.2890-3T>G (n.2890-3T>G)
n.1194T>G
c.2860-3T>G (n.2860-3T>G)
c.2275-3T>G (n.2275-3T>G)
c.2986-3T>G (n.2986-3T>G)
c.2212-3T>G (n.2212-3T>G)
c.2179-3T>G (n.2179-3T>G)
n.3213-3T>G
c.2392-3T>G (n.2392-3T>G)
n.3207-3T>G
 ClinVar dbSNP
Xg.53241913G>ACA2693796593IQSEC2c.3049-4C>T (n.3049-4C>T)
c.842-4C>T
c.351-4C>T
c.180-4C>T
c.2890-4C>T (n.2890-4C>T)
n.1193C>T
c.2860-4C>T (n.2860-4C>T)
c.2275-4C>T (n.2275-4C>T)
c.2986-4C>T (n.2986-4C>T)
c.2212-4C>T (n.2212-4C>T)
c.2179-4C>T (n.2179-4C>T)
n.3213-4C>T
c.2392-4C>T (n.2392-4C>T)
n.3207-4C>T
 gnomAD v4
Xg.53241914A>GCA2693796595IQSEC2c.3049-5T>C (n.3049-5T>C)
c.842-5T>C
c.351-5T>C
c.180-5T>C
c.2890-5T>C (n.2890-5T>C)
n.1192T>C
c.2860-5T>C (n.2860-5T>C)
c.2275-5T>C (n.2275-5T>C)
c.2986-5T>C (n.2986-5T>C)
c.2212-5T>C (n.2212-5T>C)
c.2179-5T>C (n.2179-5T>C)
n.3213-5T>C
c.2392-5T>C (n.2392-5T>C)
n.3207-5T>C
 gnomAD v4
Xg.53241915C>ACA2820950735IQSEC2c.3049-6G>T (n.3049-6G>T)
c.842-6G>T
c.351-6G>T
c.180-6G>T
c.2890-6G>T (n.2890-6G>T)
n.1191G>T
c.2860-6G>T (n.2860-6G>T)
c.2275-6G>T (n.2275-6G>T)
c.2986-6G>T (n.2986-6G>T)
c.2212-6G>T (n.2212-6G>T)
c.2179-6G>T (n.2179-6G>T)
n.3213-6G>T
c.2392-6G>T (n.2392-6G>T)
n.3207-6G>T
Xg.53241915C=CA2429772832IQSEC2c.3049-6G= (n.3049-6G=)
c.842-6G=
c.351-6G=
c.180-6G=
c.2890-6G= (n.2890-6G=)
n.1191G=
c.2860-6G= (n.2860-6G=)
c.2275-6G= (n.2275-6G=)
c.2986-6G= (n.2986-6G=)
c.2212-6G= (n.2212-6G=)
c.2179-6G= (n.2179-6G=)
n.3213-6G=
c.2392-6G= (n.2392-6G=)
n.3207-6G=
Xg.53241915C>GCA2693796596IQSEC2c.3049-6G>C (n.3049-6G>C)
c.842-6G>C
c.351-6G>C
c.180-6G>C
c.2890-6G>C (n.2890-6G>C)
n.1191G>C
c.2860-6G>C (n.2860-6G>C)
c.2275-6G>C (n.2275-6G>C)
c.2986-6G>C (n.2986-6G>C)
c.2212-6G>C (n.2212-6G>C)
c.2179-6G>C (n.2179-6G>C)
n.3213-6G>C
c.2392-6G>C (n.2392-6G>C)
n.3207-6G>C
 gnomAD v4
Xg.53241915C>TCA10419876IQSEC2c.3049-6G>A (n.3049-6G>A)
c.842-6G>A
c.351-6G>A
c.180-6G>A
c.2890-6G>A (n.2890-6G>A)
n.1191G>A
c.2860-6G>A (n.2860-6G>A)
c.2275-6G>A (n.2275-6G>A)
c.2986-6G>A (n.2986-6G>A)
c.2212-6G>A (n.2212-6G>A)
c.2179-6G>A (n.2179-6G>A)
n.3213-6G>A
c.2392-6G>A (n.2392-6G>A)
n.3207-6G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched