Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121577369_121577373dupCA2004947508SORL1c.3549_3553dup (p.Asp1185AlafsTer?)
c.381_385dup (p.Asp129AlafsTer?)
c.87_91dup (p.Asp31AlafsTer?)
c.279_283dup (p.Asp95AlafsTer?)
c.3435_3439dup (p.Asp1147AlafsTer?)
c.2010_2014dup (p.Asp672AlafsTer?)
c.909_913dup (p.Asp305AlafsTer?)
c.3237_3241dup (p.Asp1081AlafsTer?)
c.3024_3028dup (p.Asp1010AlafsTer?)
 dbSNP
11g.121577371G>ACA383024921SORL1c.3551G>A (p.Arg1184Lys)
c.383G>A (p.Arg128Lys)
c.89G>A (p.Arg30Lys)
c.281G>A (p.Arg94Lys)
c.3437G>A (p.Arg1146Lys)
c.2012G>A (p.Arg671Lys)
c.911G>A (p.Arg304Lys)
c.3239G>A (p.Arg1080Lys)
c.3026G>A (p.Arg1009Lys)
 COSMIC
11g.121577371G>CCA383024922SORL1c.3551G>C (p.Arg1184Thr)
c.383G>C (p.Arg128Thr)
c.89G>C (p.Arg30Thr)
c.281G>C (p.Arg94Thr)
c.3437G>C (p.Arg1146Thr)
c.2012G>C (p.Arg671Thr)
c.911G>C (p.Arg304Thr)
c.3239G>C (p.Arg1080Thr)
c.3026G>C (p.Arg1009Thr)
11g.121577371G>TCA383024923SORL1c.3551G>T (p.Arg1184Met)
c.383G>T (p.Arg128Met)
c.89G>T (p.Arg30Met)
c.281G>T (p.Arg94Met)
c.3437G>T (p.Arg1146Met)
c.2012G>T (p.Arg671Met)
c.911G>T (p.Arg304Met)
c.3239G>T (p.Arg1080Met)
c.3026G>T (p.Arg1009Met)
11g.121577373dupCA229853392SORL1c.3553dup (p.Asp1185GlyfsTer4)
c.385dup (p.Asp129GlyfsTer4)
c.91dup (p.Asp31GlyfsTer4)
c.283dup (p.Asp95GlyfsTer4)
c.3439dup (p.Asp1147GlyfsTer4)
c.2014dup (p.Asp672GlyfsTer4)
c.913dup (p.Asp305GlyfsTer4)
c.3241dup (p.Asp1081GlyfsTer4)
c.3028dup (p.Asp1010GlyfsTer4)
 dbSNP
11g.121577372G>ACA477219351SORL1c.3552G>A (p.Arg1184=)
c.384G>A (p.Arg128=)
c.90G>A (p.Arg30=)
c.282G>A (p.Arg94=)
c.3438G>A (p.Arg1146=)
c.2013G>A (p.Arg671=)
c.912G>A (p.Arg304=)
c.3240G>A (p.Arg1080=)
c.3027G>A (p.Arg1009=)
 gnomAD v4
11g.121577372G>CCA383024924SORL1c.3552G>C (p.Arg1184Ser)
c.384G>C (p.Arg128Ser)
c.90G>C (p.Arg30Ser)
c.282G>C (p.Arg94Ser)
c.3438G>C (p.Arg1146Ser)
c.2013G>C (p.Arg671Ser)
c.912G>C (p.Arg304Ser)
c.3240G>C (p.Arg1080Ser)
c.3027G>C (p.Arg1009Ser)
11g.121577372G=CA2004947512SORL1c.3552G= (p.Arg1184=)
c.384G= (p.Arg128=)
c.90G= (p.Arg30=)
c.282G= (p.Arg94=)
c.3438G= (p.Arg1146=)
c.2013G= (p.Arg671=)
c.912G= (p.Arg304=)
c.3240G= (p.Arg1080=)
c.3027G= (p.Arg1009=)
11g.121577372G>TCA383024925SORL1c.3552G>T (p.Arg1184Ser)
c.384G>T (p.Arg128Ser)
c.90G>T (p.Arg30Ser)
c.282G>T (p.Arg94Ser)
c.3438G>T (p.Arg1146Ser)
c.2013G>T (p.Arg671Ser)
c.912G>T (p.Arg304Ser)
c.3240G>T (p.Arg1080Ser)
c.3027G>T (p.Arg1009Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.121577373G>ACA383024926SORL1c.3553G>A (p.Asp1185Asn)
c.385G>A (p.Asp129Asn)
c.91G>A (p.Asp31Asn)
c.283G>A (p.Asp95Asn)
c.3439G>A (p.Asp1147Asn)
c.2014G>A (p.Asp672Asn)
c.913G>A (p.Asp305Asn)
c.3241G>A (p.Asp1081Asn)
c.3028G>A (p.Asp1010Asn)
 COSMIC
11g.121577373G>CCA383024927SORL1c.3553G>C (p.Asp1185His)
c.385G>C (p.Asp129His)
c.91G>C (p.Asp31His)
c.283G>C (p.Asp95His)
c.3439G>C (p.Asp1147His)
c.2014G>C (p.Asp672His)
c.913G>C (p.Asp305His)
c.3241G>C (p.Asp1081His)
c.3028G>C (p.Asp1010His)
11g.121577373G>TCA383024928SORL1c.3553G>T (p.Asp1185Tyr)
c.385G>T (p.Asp129Tyr)
c.91G>T (p.Asp31Tyr)
c.283G>T (p.Asp95Tyr)
c.3439G>T (p.Asp1147Tyr)
c.2014G>T (p.Asp672Tyr)
c.913G>T (p.Asp305Tyr)
c.3241G>T (p.Asp1081Tyr)
c.3028G>T (p.Asp1010Tyr)
 dbSNP
11g.121577374A>CCA383024929SORL1c.3554A>C (p.Asp1185Ala)
c.386A>C (p.Asp129Ala)
c.92A>C (p.Asp31Ala)
c.284A>C (p.Asp95Ala)
c.3440A>C (p.Asp1147Ala)
c.2015A>C (p.Asp672Ala)
c.914A>C (p.Asp305Ala)
c.3242A>C (p.Asp1081Ala)
c.3029A>C (p.Asp1010Ala)
11g.121577374A>GCA383024930SORL1c.3554A>G (p.Asp1185Gly)
c.386A>G (p.Asp129Gly)
c.92A>G (p.Asp31Gly)
c.284A>G (p.Asp95Gly)
c.3440A>G (p.Asp1147Gly)
c.2015A>G (p.Asp672Gly)
c.914A>G (p.Asp305Gly)
c.3242A>G (p.Asp1081Gly)
c.3029A>G (p.Asp1010Gly)
 gnomAD v4
11g.121577374A>TCA383024931SORL1c.3554A>T (p.Asp1185Val)
c.386A>T (p.Asp129Val)
c.92A>T (p.Asp31Val)
c.284A>T (p.Asp95Val)
c.3440A>T (p.Asp1147Val)
c.2015A>T (p.Asp672Val)
c.914A>T (p.Asp305Val)
c.3242A>T (p.Asp1081Val)
c.3029A>T (p.Asp1010Val)
11g.121577375C>ACA383024932SORL1c.3555C>A (p.Asp1185Glu)
c.387C>A (p.Asp129Glu)
c.93C>A (p.Asp31Glu)
c.285C>A (p.Asp95Glu)
c.3441C>A (p.Asp1147Glu)
c.2016C>A (p.Asp672Glu)
c.915C>A (p.Asp305Glu)
c.3243C>A (p.Asp1081Glu)
c.3030C>A (p.Asp1010Glu)
11g.121577375C>GCA383024933SORL1c.3555C>G (p.Asp1185Glu)
c.387C>G (p.Asp129Glu)
c.93C>G (p.Asp31Glu)
c.285C>G (p.Asp95Glu)
c.3441C>G (p.Asp1147Glu)
c.2016C>G (p.Asp672Glu)
c.915C>G (p.Asp305Glu)
c.3243C>G (p.Asp1081Glu)
c.3030C>G (p.Asp1010Glu)
11g.121577375C>TCA477219352SORL1c.3555C>T (p.Asp1185=)
c.387C>T (p.Asp129=)
c.93C>T (p.Asp31=)
c.285C>T (p.Asp95=)
c.3441C>T (p.Asp1147=)
c.2016C>T (p.Asp672=)
c.915C>T (p.Asp305=)
c.3243C>T (p.Asp1081=)
c.3030C>T (p.Asp1010=)
11g.121577376T>ACA383024935SORL1c.3556T>A (p.Trp1186Arg)
c.388T>A (p.Trp130Arg)
c.94T>A (p.Trp32Arg)
c.286T>A (p.Trp96Arg)
c.3442T>A (p.Trp1148Arg)
c.2017T>A (p.Trp673Arg)
c.916T>A (p.Trp306Arg)
c.3244T>A (p.Trp1082Arg)
c.3031T>A (p.Trp1011Arg)
11g.121577376T>CCA383024934SORL1c.3556T>C (p.Trp1186Arg)
c.388T>C (p.Trp130Arg)
c.94T>C (p.Trp32Arg)
c.286T>C (p.Trp96Arg)
c.3442T>C (p.Trp1148Arg)
c.2017T>C (p.Trp673Arg)
c.916T>C (p.Trp306Arg)
c.3244T>C (p.Trp1082Arg)
c.3031T>C (p.Trp1011Arg)
 gnomAD v4
11g.121577376T>GCA6329299SORL1c.3556T>G (p.Trp1186Gly)
c.388T>G (p.Trp130Gly)
c.94T>G (p.Trp32Gly)
c.286T>G (p.Trp96Gly)
c.3442T>G (p.Trp1148Gly)
c.2017T>G (p.Trp673Gly)
c.916T>G (p.Trp306Gly)
c.3244T>G (p.Trp1082Gly)
c.3031T>G (p.Trp1011Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121577376T=CA2004947513SORL1c.3556T= (p.Trp1186=)
c.388T= (p.Trp130=)
c.94T= (p.Trp32=)
c.286T= (p.Trp96=)
c.3442T= (p.Trp1148=)
c.2017T= (p.Trp673=)
c.916T= (p.Trp306=)
c.3244T= (p.Trp1082=)
c.3031T= (p.Trp1011=)
11g.121577377G>ACA383024936SORL1c.3557G>A (p.Trp1186Ter)
c.389G>A (p.Trp130Ter)
c.95G>A (p.Trp32Ter)
c.287G>A (p.Trp96Ter)
c.3443G>A (p.Trp1148Ter)
c.2018G>A (p.Trp673Ter)
c.917G>A (p.Trp306Ter)
c.3245G>A (p.Trp1082Ter)
c.3032G>A (p.Trp1011Ter)
11g.121577377G>CCA383024937SORL1c.3557G>C (p.Trp1186Ser)
c.389G>C (p.Trp130Ser)
c.95G>C (p.Trp32Ser)
c.287G>C (p.Trp96Ser)
c.3443G>C (p.Trp1148Ser)
c.2018G>C (p.Trp673Ser)
c.917G>C (p.Trp306Ser)
c.3245G>C (p.Trp1082Ser)
c.3032G>C (p.Trp1011Ser)
11g.121577377G>TCA383024938SORL1c.3557G>T (p.Trp1186Leu)
c.389G>T (p.Trp130Leu)
c.95G>T (p.Trp32Leu)
c.287G>T (p.Trp96Leu)
c.3443G>T (p.Trp1148Leu)
c.2018G>T (p.Trp673Leu)
c.917G>T (p.Trp306Leu)
c.3245G>T (p.Trp1082Leu)
c.3032G>T (p.Trp1011Leu)
11g.121577378delCA2616500473SORL1c.3558del (p.Trp1186CysfsTer?)
c.390del (p.Trp130CysfsTer?)
c.96del (p.Trp32CysfsTer?)
c.288del (p.Trp96CysfsTer?)
c.3444del (p.Trp1148CysfsTer?)
c.2019del (p.Trp673CysfsTer?)
c.918del (p.Trp306CysfsTer?)
c.3246del (p.Trp1082CysfsTer?)
c.3033del (p.Trp1011CysfsTer?)
 gnomAD v4
11g.121577378G>ACA383024939SORL1c.3558G>A (p.Trp1186Ter)
c.390G>A (p.Trp130Ter)
c.96G>A (p.Trp32Ter)
c.288G>A (p.Trp96Ter)
c.3444G>A (p.Trp1148Ter)
c.2019G>A (p.Trp673Ter)
c.918G>A (p.Trp306Ter)
c.3246G>A (p.Trp1082Ter)
c.3033G>A (p.Trp1011Ter)
 dbSNP gnomAD v2
11g.121577378G>CCA383024940SORL1c.3558G>C (p.Trp1186Cys)
c.390G>C (p.Trp130Cys)
c.96G>C (p.Trp32Cys)
c.288G>C (p.Trp96Cys)
c.3444G>C (p.Trp1148Cys)
c.2019G>C (p.Trp673Cys)
c.918G>C (p.Trp306Cys)
c.3246G>C (p.Trp1082Cys)
c.3033G>C (p.Trp1011Cys)
11g.121577378G=CA2004947514SORL1c.3558G= (p.Trp1186=)
c.390G= (p.Trp130=)
c.96G= (p.Trp32=)
c.288G= (p.Trp96=)
c.3444G= (p.Trp1148=)
c.2019G= (p.Trp673=)
c.918G= (p.Trp306=)
c.3246G= (p.Trp1082=)
c.3033G= (p.Trp1011=)
11g.121577378G>TCA383024941SORL1c.3558G>T (p.Trp1186Cys)
c.390G>T (p.Trp130Cys)
c.96G>T (p.Trp32Cys)
c.288G>T (p.Trp96Cys)
c.3444G>T (p.Trp1148Cys)
c.2019G>T (p.Trp673Cys)
c.918G>T (p.Trp306Cys)
c.3246G>T (p.Trp1082Cys)
c.3033G>T (p.Trp1011Cys)
11g.121577379T>ACA383024942SORL1c.3559T>A (p.Ser1187Thr)
c.391T>A (p.Ser131Thr)
c.97T>A (p.Ser33Thr)
c.289T>A (p.Ser97Thr)
c.3445T>A (p.Ser1149Thr)
c.2020T>A (p.Ser674Thr)
c.919T>A (p.Ser307Thr)
c.3247T>A (p.Ser1083Thr)
c.3034T>A (p.Ser1012Thr)
11g.121577379T>CCA383024943SORL1c.3559T>C (p.Ser1187Pro)
c.391T>C (p.Ser131Pro)
c.97T>C (p.Ser33Pro)
c.289T>C (p.Ser97Pro)
c.3445T>C (p.Ser1149Pro)
c.2020T>C (p.Ser674Pro)
c.919T>C (p.Ser307Pro)
c.3247T>C (p.Ser1083Pro)
c.3034T>C (p.Ser1012Pro)
11g.121577379T>GCA383024944SORL1c.3559T>G (p.Ser1187Ala)
c.391T>G (p.Ser131Ala)
c.97T>G (p.Ser33Ala)
c.289T>G (p.Ser97Ala)
c.3445T>G (p.Ser1149Ala)
c.2020T>G (p.Ser674Ala)
c.919T>G (p.Ser307Ala)
c.3247T>G (p.Ser1083Ala)
c.3034T>G (p.Ser1012Ala)
11g.121577380C>ACA383024945SORL1c.3560C>A (p.Ser1187Tyr)
c.392C>A (p.Ser131Tyr)
c.98C>A (p.Ser33Tyr)
c.290C>A (p.Ser97Tyr)
c.3446C>A (p.Ser1149Tyr)
c.2021C>A (p.Ser674Tyr)
c.920C>A (p.Ser307Tyr)
c.3248C>A (p.Ser1083Tyr)
c.3035C>A (p.Ser1012Tyr)
 gnomAD v4
11g.121577380C=CA2004947515SORL1c.3560C= (p.Ser1187=)
c.392C= (p.Ser131=)
c.98C= (p.Ser33=)
c.290C= (p.Ser97=)
c.3446C= (p.Ser1149=)
c.2021C= (p.Ser674=)
c.920C= (p.Ser307=)
c.3248C= (p.Ser1083=)
c.3035C= (p.Ser1012=)
11g.121577380C>GCA383024946SORL1c.3560C>G (p.Ser1187Cys)
c.392C>G (p.Ser131Cys)
c.98C>G (p.Ser33Cys)
c.290C>G (p.Ser97Cys)
c.3446C>G (p.Ser1149Cys)
c.2021C>G (p.Ser674Cys)
c.920C>G (p.Ser307Cys)
c.3248C>G (p.Ser1083Cys)
c.3035C>G (p.Ser1012Cys)
11g.121577380C>TCA383024947SORL1c.3560C>T (p.Ser1187Phe)
c.392C>T (p.Ser131Phe)
c.98C>T (p.Ser33Phe)
c.290C>T (p.Ser97Phe)
c.3446C>T (p.Ser1149Phe)
c.2021C>T (p.Ser674Phe)
c.920C>T (p.Ser307Phe)
c.3248C>T (p.Ser1083Phe)
c.3035C>T (p.Ser1012Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.121577380_121577381delinsTGCA2580083719SORL1c.3560_3561delinsTG (p.Ser1187Leu)
c.392_393delinsTG (p.Ser131Leu)
c.98_99delinsTG (p.Ser33Leu)
c.290_291delinsTG (p.Ser97Leu)
c.3446_3447delinsTG (p.Ser1149Leu)
c.2021_2022delinsTG (p.Ser674Leu)
c.920_921delinsTG (p.Ser307Leu)
c.3248_3249delinsTG (p.Ser1083Leu)
c.3035_3036delinsTG (p.Ser1012Leu)
 ClinVar
11g.121577381T>ACA477219353SORL1c.3561T>A (p.Ser1187=)
c.393T>A (p.Ser131=)
c.99T>A (p.Ser33=)
c.291T>A (p.Ser97=)
c.3447T>A (p.Ser1149=)
c.2022T>A (p.Ser674=)
c.921T>A (p.Ser307=)
c.3249T>A (p.Ser1083=)
c.3036T>A (p.Ser1012=)
 gnomAD v4
11g.121577381T>CCA477219354SORL1c.3561T>C (p.Ser1187=)
c.393T>C (p.Ser131=)
c.99T>C (p.Ser33=)
c.291T>C (p.Ser97=)
c.3447T>C (p.Ser1149=)
c.2022T>C (p.Ser674=)
c.921T>C (p.Ser307=)
c.3249T>C (p.Ser1083=)
c.3036T>C (p.Ser1012=)
11g.121577381T>GCA6329300SORL1c.3561T>G (p.Ser1187=)
c.393T>G (p.Ser131=)
c.99T>G (p.Ser33=)
c.291T>G (p.Ser97=)
c.3447T>G (p.Ser1149=)
c.2022T>G (p.Ser674=)
c.921T>G (p.Ser307=)
c.3249T>G (p.Ser1083=)
c.3036T>G (p.Ser1012=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121577381T=CA2004947516SORL1c.3561T= (p.Ser1187=)
c.393T= (p.Ser131=)
c.99T= (p.Ser33=)
c.291T= (p.Ser97=)
c.3447T= (p.Ser1149=)
c.2022T= (p.Ser674=)
c.921T= (p.Ser307=)
c.3249T= (p.Ser1083=)
c.3036T= (p.Ser1012=)
11g.121577382G>ACA383024949SORL1c.3562G>A (p.Asp1188Asn)
c.394G>A (p.Asp132Asn)
c.100G>A (p.Asp34Asn)
c.292G>A (p.Asp98Asn)
c.3448G>A (p.Asp1150Asn)
c.2023G>A (p.Asp675Asn)
c.922G>A (p.Asp308Asn)
c.3250G>A (p.Asp1084Asn)
c.3037G>A (p.Asp1013Asn)
 gnomAD v4
11g.121577382G>CCA383024950SORL1c.3562G>C (p.Asp1188His)
c.394G>C (p.Asp132His)
c.100G>C (p.Asp34His)
c.292G>C (p.Asp98His)
c.3448G>C (p.Asp1150His)
c.2023G>C (p.Asp675His)
c.922G>C (p.Asp308His)
c.3250G>C (p.Asp1084His)
c.3037G>C (p.Asp1013His)
11g.121577382G>TCA383024948SORL1c.3562G>T (p.Asp1188Tyr)
c.394G>T (p.Asp132Tyr)
c.100G>T (p.Asp34Tyr)
c.292G>T (p.Asp98Tyr)
c.3448G>T (p.Asp1150Tyr)
c.2023G>T (p.Asp675Tyr)
c.922G>T (p.Asp308Tyr)
c.3250G>T (p.Asp1084Tyr)
c.3037G>T (p.Asp1013Tyr)
11g.121577383A>CCA383024952SORL1c.3563A>C (p.Asp1188Ala)
c.395A>C (p.Asp132Ala)
c.101A>C (p.Asp34Ala)
c.293A>C (p.Asp98Ala)
c.3449A>C (p.Asp1150Ala)
c.2024A>C (p.Asp675Ala)
c.923A>C (p.Asp308Ala)
c.3251A>C (p.Asp1084Ala)
c.3038A>C (p.Asp1013Ala)
11g.121577383A>GCA383024956SORL1c.3563A>G (p.Asp1188Gly)
c.395A>G (p.Asp132Gly)
c.101A>G (p.Asp34Gly)
c.293A>G (p.Asp98Gly)
c.3449A>G (p.Asp1150Gly)
c.2024A>G (p.Asp675Gly)
c.923A>G (p.Asp308Gly)
c.3251A>G (p.Asp1084Gly)
c.3038A>G (p.Asp1013Gly)
11g.121577383A>TCA383024954SORL1c.3563A>T (p.Asp1188Val)
c.395A>T (p.Asp132Val)
c.101A>T (p.Asp34Val)
c.293A>T (p.Asp98Val)
c.3449A>T (p.Asp1150Val)
c.2024A>T (p.Asp675Val)
c.923A>T (p.Asp308Val)
c.3251A>T (p.Asp1084Val)
c.3038A>T (p.Asp1013Val)
11g.121577384T>ACA383024958SORL1c.3564T>A (p.Asp1188Glu)
c.396T>A (p.Asp132Glu)
c.102T>A (p.Asp34Glu)
c.294T>A (p.Asp98Glu)
c.3450T>A (p.Asp1150Glu)
c.2025T>A (p.Asp675Glu)
c.924T>A (p.Asp308Glu)
c.3252T>A (p.Asp1084Glu)
c.3039T>A (p.Asp1013Glu)
11g.121577384T>CCA6329301SORL1c.3564T>C (p.Asp1188=)
c.396T>C (p.Asp132=)
c.102T>C (p.Asp34=)
c.294T>C (p.Asp98=)
c.3450T>C (p.Asp1150=)
c.2025T>C (p.Asp675=)
c.924T>C (p.Asp308=)
c.3252T>C (p.Asp1084=)
c.3039T>C (p.Asp1013=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched