Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46938612_46938614delCA278920GOSR2,LRRC37A2c.491_493del (p.Lys164del)
c.296_298del (p.Lys99del)
c.485_487del (p.Lys162del)
c.547_549del (p.Arg183del)
c.437_439del (p.Lys146del)
c.134_136del (p.Lys45del)
c.244_246del
c.347_349del (p.Lys116del)
c.350_352del (p.Lys117del)
c.488_490del (p.Lys163del)
c.-20_-18del (n.-20_-18del)
n.383_385del
c.362_364del (p.Lys121del)
c.157_159del (p.Arg53del)
c.430_432del
c.8_10del (p.Lys3del)
c.291_293del (p.Glu97del)
c.484_486del
c.14_16del (p.Lys5del)
n.570_572del
n.783_785del
n.567_569del
n.426_428del
c.434_436del (p.Lys145del)
c.4810-110444_4810-110442del (n.4810-110444_4810-110442del)
n.551_553del
n.926_928del
n.524_526del
 ClinVar dbSNP gnomAD v4
17g.46938612A>CCA400018899GOSR2,LRRC37A2c.491A>C (p.Lys164Thr)
c.296A>C (p.Lys99Thr)
c.485A>C (p.Lys162Thr)
c.547A>C (p.Arg183=)
c.437A>C (p.Lys146Thr)
c.134A>C (p.Lys45Thr)
c.244A>C
c.347A>C (p.Lys116Thr)
c.350A>C (p.Lys117Thr)
c.488A>C (p.Lys163Thr)
c.-20A>C (n.-20A>C)
n.383A>C
c.362A>C (p.Lys121Thr)
c.157A>C (p.Arg53=)
c.430A>C
c.8A>C (p.Lys3Thr)
c.291A>C (p.Glu97Asp)
c.484A>C
c.14A>C (p.Lys5Thr)
n.570A>C
n.783A>C
n.567A>C
n.426A>C
c.434A>C (p.Lys145Thr)
c.4810-110444A>C (n.4810-110444A>C)
n.551A>C
n.926A>C
n.524A>C
17g.46938612A>GCA400018900GOSR2,LRRC37A2c.491A>G (p.Lys164Arg)
c.296A>G (p.Lys99Arg)
c.485A>G (p.Lys162Arg)
c.547A>G (p.Arg183Gly)
c.437A>G (p.Lys146Arg)
c.134A>G (p.Lys45Arg)
c.244A>G
c.347A>G (p.Lys116Arg)
c.350A>G (p.Lys117Arg)
c.488A>G (p.Lys163Arg)
c.-20A>G (n.-20A>G)
n.383A>G
c.362A>G (p.Lys121Arg)
c.157A>G (p.Arg53Gly)
c.430A>G
c.8A>G (p.Lys3Arg)
c.291A>G (p.Glu97=)
c.484A>G
c.14A>G (p.Lys5Arg)
n.570A>G
n.783A>G
n.567A>G
n.426A>G
c.434A>G (p.Lys145Arg)
c.4810-110444A>G (n.4810-110444A>G)
n.551A>G
n.926A>G
n.524A>G
17g.46938612A>TCA400018901GOSR2,LRRC37A2c.491A>T (p.Lys164Met)
c.296A>T (p.Lys99Met)
c.485A>T (p.Lys162Met)
c.547A>T (p.Arg183Ter)
c.437A>T (p.Lys146Met)
c.134A>T (p.Lys45Met)
c.244A>T
c.347A>T (p.Lys116Met)
c.350A>T (p.Lys117Met)
c.488A>T (p.Lys163Met)
c.-20A>T (n.-20A>T)
n.383A>T
c.362A>T (p.Lys121Met)
c.157A>T (p.Arg53Ter)
c.430A>T
c.8A>T (p.Lys3Met)
c.291A>T (p.Glu97Asp)
c.484A>T
c.14A>T (p.Lys5Met)
n.570A>T
n.783A>T
n.567A>T
n.426A>T
c.434A>T (p.Lys145Met)
c.4810-110444A>T (n.4810-110444A>T)
n.551A>T
n.926A>T
n.524A>T
 gnomAD v4
17g.46938613G>ACA500414487GOSR2,LRRC37A2c.492G>A (p.Lys164=)
c.297G>A (p.Lys99=)
c.486G>A (p.Lys162=)
c.548G>A (p.Arg183Lys)
c.438G>A (p.Lys146=)
c.135G>A (p.Lys45=)
c.245G>A
c.348G>A (p.Lys116=)
c.351G>A (p.Lys117=)
c.489G>A (p.Lys163=)
c.-19G>A (n.-19G>A)
n.384G>A
c.363G>A (p.Lys121=)
c.158G>A (p.Arg53Lys)
c.431G>A
c.9G>A (p.Lys3=)
c.292G>A (p.Asp98Asn)
c.485G>A
c.15G>A (p.Lys5=)
n.571G>A
n.784G>A
n.568G>A
n.427G>A
c.435G>A (p.Lys145=)
c.4810-110443G>A (n.4810-110443G>A)
n.552G>A
n.927G>A
n.525G>A
17g.46938613G>CCA400018902GOSR2,LRRC37A2c.492G>C (p.Lys164Asn)
c.297G>C (p.Lys99Asn)
c.486G>C (p.Lys162Asn)
c.548G>C (p.Arg183Thr)
c.438G>C (p.Lys146Asn)
c.135G>C (p.Lys45Asn)
c.245G>C
c.348G>C (p.Lys116Asn)
c.351G>C (p.Lys117Asn)
c.489G>C (p.Lys163Asn)
c.-19G>C (n.-19G>C)
n.384G>C
c.363G>C (p.Lys121Asn)
c.158G>C (p.Arg53Thr)
c.431G>C
c.9G>C (p.Lys3Asn)
c.292G>C (p.Asp98His)
c.485G>C
c.15G>C (p.Lys5Asn)
n.571G>C
n.784G>C
n.568G>C
n.427G>C
c.435G>C (p.Lys145Asn)
c.4810-110443G>C (n.4810-110443G>C)
n.552G>C
n.927G>C
n.525G>C
17g.46938613G>TCA400018904GOSR2,LRRC37A2c.492G>T (p.Lys164Asn)
c.297G>T (p.Lys99Asn)
c.486G>T (p.Lys162Asn)
c.548G>T (p.Arg183Ile)
c.438G>T (p.Lys146Asn)
c.135G>T (p.Lys45Asn)
c.245G>T
c.348G>T (p.Lys116Asn)
c.351G>T (p.Lys117Asn)
c.489G>T (p.Lys163Asn)
c.-19G>T (n.-19G>T)
n.384G>T
c.363G>T (p.Lys121Asn)
c.158G>T (p.Arg53Ile)
c.431G>T
c.9G>T (p.Lys3Asn)
c.292G>T (p.Asp98Tyr)
c.485G>T
c.15G>T (p.Lys5Asn)
n.571G>T
n.784G>T
n.568G>T
n.427G>T
c.435G>T (p.Lys145Asn)
c.4810-110443G>T (n.4810-110443G>T)
n.552G>T
n.927G>T
n.525G>T
17g.46938614A=CA2262452839GOSR2,LRRC37A2c.493A= (p.Ile165=)
c.298A= (p.Ile100=)
c.487A= (p.Ile163=)
c.549A= (p.Arg183=)
c.439A= (p.Ile147=)
c.136A= (p.Ile46=)
c.246A=
c.349A= (p.Ile117=)
c.352A= (p.Ile118=)
c.490A= (p.Ile164=)
c.-18A= (n.-18A=)
n.385A=
c.364A= (p.Ile122=)
c.159A= (p.Arg53=)
c.432A=
c.10A= (p.Ile4=)
c.293A= (p.Asp98=)
c.486A=
c.16A= (p.Ile6=)
n.572A=
n.785A=
n.569A=
n.428A=
c.436A= (p.Ile146=)
c.4810-110442A= (n.4810-110442A=)
n.553A=
n.928A=
n.526A=
17g.46938614A>CCA400018909GOSR2,LRRC37A2c.493A>C (p.Ile165Leu)
c.298A>C (p.Ile100Leu)
c.487A>C (p.Ile163Leu)
c.549A>C (p.Arg183Ser)
c.439A>C (p.Ile147Leu)
c.136A>C (p.Ile46Leu)
c.246A>C
c.349A>C (p.Ile117Leu)
c.352A>C (p.Ile118Leu)
c.490A>C (p.Ile164Leu)
c.-18A>C (n.-18A>C)
n.385A>C
c.364A>C (p.Ile122Leu)
c.159A>C (p.Arg53Ser)
c.432A>C
c.10A>C (p.Ile4Leu)
c.293A>C (p.Asp98Ala)
c.486A>C
c.16A>C (p.Ile6Leu)
n.572A>C
n.785A>C
n.569A>C
n.428A>C
c.436A>C (p.Ile146Leu)
c.4810-110442A>C (n.4810-110442A>C)
n.553A>C
n.928A>C
n.526A>C
 dbSNP gnomAD v4
17g.46938614A>GCA400018907GOSR2,LRRC37A2c.493A>G (p.Ile165Val)
c.298A>G (p.Ile100Val)
c.487A>G (p.Ile163Val)
c.549A>G (p.Arg183=)
c.439A>G (p.Ile147Val)
c.136A>G (p.Ile46Val)
c.246A>G
c.349A>G (p.Ile117Val)
c.352A>G (p.Ile118Val)
c.490A>G (p.Ile164Val)
c.-18A>G (n.-18A>G)
n.385A>G
c.364A>G (p.Ile122Val)
c.159A>G (p.Arg53=)
c.432A>G
c.10A>G (p.Ile4Val)
c.293A>G (p.Asp98Gly)
c.486A>G
c.16A>G (p.Ile6Val)
n.572A>G
n.785A>G
n.569A>G
n.428A>G
c.436A>G (p.Ile146Val)
c.4810-110442A>G (n.4810-110442A>G)
n.553A>G
n.928A>G
n.526A>G
 gnomAD v4
17g.46938614A>TCA400018906GOSR2,LRRC37A2c.493A>T (p.Ile165Phe)
c.298A>T (p.Ile100Phe)
c.487A>T (p.Ile163Phe)
c.549A>T (p.Arg183Ser)
c.439A>T (p.Ile147Phe)
c.136A>T (p.Ile46Phe)
c.246A>T
c.349A>T (p.Ile117Phe)
c.352A>T (p.Ile118Phe)
c.490A>T (p.Ile164Phe)
c.-18A>T (n.-18A>T)
n.385A>T
c.364A>T (p.Ile122Phe)
c.159A>T (p.Arg53Ser)
c.432A>T
c.10A>T (p.Ile4Phe)
c.293A>T (p.Asp98Val)
c.486A>T
c.16A>T (p.Ile6Phe)
n.572A>T
n.785A>T
n.569A>T
n.428A>T
c.436A>T (p.Ile146Phe)
c.4810-110442A>T (n.4810-110442A>T)
n.553A>T
n.928A>T
n.526A>T
17g.46938615T>ACA400018910GOSR2,LRRC37A2c.494T>A (p.Ile165Asn)
c.299T>A (p.Ile100Asn)
c.488T>A (p.Ile163Asn)
c.550T>A (p.Ser184Thr)
c.440T>A (p.Ile147Asn)
c.137T>A (p.Ile46Asn)
c.247T>A
c.350T>A (p.Ile117Asn)
c.353T>A (p.Ile118Asn)
c.491T>A (p.Ile164Asn)
c.-17T>A (n.-17T>A)
n.386T>A
c.365T>A (p.Ile122Asn)
c.160T>A (p.Ser54Thr)
c.433T>A
c.11T>A (p.Ile4Asn)
c.294T>A (p.Asp98Glu)
c.487T>A
c.17T>A (p.Ile6Asn)
n.573T>A
n.786T>A
n.570T>A
n.429T>A
c.437T>A (p.Ile146Asn)
c.4810-110441T>A (n.4810-110441T>A)
n.554T>A
n.929T>A
n.527T>A
17g.46938615T>CCA400018912GOSR2,LRRC37A2c.494T>C (p.Ile165Thr)
c.299T>C (p.Ile100Thr)
c.488T>C (p.Ile163Thr)
c.550T>C (p.Ser184Pro)
c.440T>C (p.Ile147Thr)
c.137T>C (p.Ile46Thr)
c.247T>C
c.350T>C (p.Ile117Thr)
c.353T>C (p.Ile118Thr)
c.491T>C (p.Ile164Thr)
c.-17T>C (n.-17T>C)
n.386T>C
c.365T>C (p.Ile122Thr)
c.160T>C (p.Ser54Pro)
c.433T>C
c.11T>C (p.Ile4Thr)
c.294T>C (p.Asp98=)
c.487T>C
c.17T>C (p.Ile6Thr)
n.573T>C
n.786T>C
n.570T>C
n.429T>C
c.437T>C (p.Ile146Thr)
c.4810-110441T>C (n.4810-110441T>C)
n.554T>C
n.929T>C
n.527T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46938615T>GCA400018914GOSR2,LRRC37A2c.494T>G (p.Ile165Ser)
c.299T>G (p.Ile100Ser)
c.488T>G (p.Ile163Ser)
c.550T>G (p.Ser184Ala)
c.440T>G (p.Ile147Ser)
c.137T>G (p.Ile46Ser)
c.247T>G
c.350T>G (p.Ile117Ser)
c.353T>G (p.Ile118Ser)
c.491T>G (p.Ile164Ser)
c.-17T>G (n.-17T>G)
n.386T>G
c.365T>G (p.Ile122Ser)
c.160T>G (p.Ser54Ala)
c.433T>G
c.11T>G (p.Ile4Ser)
c.294T>G (p.Asp98Glu)
c.487T>G
c.17T>G (p.Ile6Ser)
n.573T>G
n.786T>G
n.570T>G
n.429T>G
c.437T>G (p.Ile146Ser)
c.4810-110441T>G (n.4810-110441T>G)
n.554T>G
n.929T>G
n.527T>G
17g.46938615T=CA2262452840GOSR2,LRRC37A2c.494T= (p.Ile165=)
c.299T= (p.Ile100=)
c.488T= (p.Ile163=)
c.550T= (p.Ser184=)
c.440T= (p.Ile147=)
c.137T= (p.Ile46=)
c.247T=
c.350T= (p.Ile117=)
c.353T= (p.Ile118=)
c.491T= (p.Ile164=)
c.-17T= (n.-17T=)
n.386T=
c.365T= (p.Ile122=)
c.160T= (p.Ser54=)
c.433T=
c.11T= (p.Ile4=)
c.294T= (p.Asp98=)
c.487T=
c.17T= (p.Ile6=)
n.573T=
n.786T=
n.570T=
n.429T=
c.437T= (p.Ile146=)
c.4810-110441T= (n.4810-110441T=)
n.554T=
n.929T=
n.527T=
17g.46938616C>ACA500414496GOSR2,LRRC37A2c.495C>A (p.Ile165=)
c.300C>A (p.Ile100=)
c.489C>A (p.Ile163=)
c.551C>A (p.Ser184Tyr)
c.441C>A (p.Ile147=)
c.138C>A (p.Ile46=)
c.248C>A
c.351C>A (p.Ile117=)
c.354C>A (p.Ile118=)
c.492C>A (p.Ile164=)
c.-16C>A (n.-16C>A)
n.387C>A
c.366C>A (p.Ile122=)
c.161C>A (p.Ser54Tyr)
c.434C>A
c.12C>A (p.Ile4=)
c.295C>A (p.Pro99Thr)
c.488C>A
c.18C>A (p.Ile6=)
n.574C>A
n.787C>A
n.571C>A
n.430C>A
c.438C>A (p.Ile146=)
c.4810-110440C>A (n.4810-110440C>A)
n.555C>A
n.930C>A
n.528C>A
 gnomAD v4
17g.46938616C>GCA400018915GOSR2,LRRC37A2c.495C>G (p.Ile165Met)
c.300C>G (p.Ile100Met)
c.489C>G (p.Ile163Met)
c.551C>G (p.Ser184Cys)
c.441C>G (p.Ile147Met)
c.138C>G (p.Ile46Met)
c.248C>G
c.351C>G (p.Ile117Met)
c.354C>G (p.Ile118Met)
c.492C>G (p.Ile164Met)
c.-16C>G (n.-16C>G)
n.387C>G
c.366C>G (p.Ile122Met)
c.161C>G (p.Ser54Cys)
c.434C>G
c.12C>G (p.Ile4Met)
c.295C>G (p.Pro99Ala)
c.488C>G
c.18C>G (p.Ile6Met)
n.574C>G
n.787C>G
n.571C>G
n.430C>G
c.438C>G (p.Ile146Met)
c.4810-110440C>G (n.4810-110440C>G)
n.555C>G
n.930C>G
n.528C>G
17g.46938616C>TCA500414498GOSR2,LRRC37A2c.495C>T (p.Ile165=)
c.300C>T (p.Ile100=)
c.489C>T (p.Ile163=)
c.551C>T (p.Ser184Phe)
c.441C>T (p.Ile147=)
c.138C>T (p.Ile46=)
c.248C>T
c.351C>T (p.Ile117=)
c.354C>T (p.Ile118=)
c.492C>T (p.Ile164=)
c.-16C>T (n.-16C>T)
n.387C>T
c.366C>T (p.Ile122=)
c.161C>T (p.Ser54Phe)
c.434C>T
c.12C>T (p.Ile4=)
c.295C>T (p.Pro99Ser)
c.488C>T
c.18C>T (p.Ile6=)
n.574C>T
n.787C>T
n.571C>T
n.430C>T
c.438C>T (p.Ile146=)
c.4810-110440C>T (n.4810-110440C>T)
n.555C>T
n.930C>T
n.528C>T
 COSMIC COSMIC COSMIC
17g.46938617C>ACA400018917GOSR2,LRRC37A2c.496C>A (p.Leu166Ile)
c.301C>A (p.Leu101Ile)
c.490C>A (p.Leu164Ile)
c.552C>A (p.Ser184=)
c.442C>A (p.Leu148Ile)
c.139C>A (p.Leu47Ile)
c.249C>A
c.352C>A (p.Leu118Ile)
c.355C>A (p.Leu119Ile)
c.493C>A (p.Leu165Ile)
c.-15C>A (n.-15C>A)
n.388C>A
c.367C>A (p.Leu123Ile)
c.162C>A (p.Ser54=)
c.435C>A
c.13C>A (p.Leu5Ile)
c.296C>A (p.Pro99His)
c.489C>A
c.19C>A (p.Leu7Ile)
n.575C>A
n.788C>A
n.572C>A
n.431C>A
c.439C>A (p.Leu147Ile)
c.4810-110439C>A (n.4810-110439C>A)
n.556C>A
n.931C>A
n.529C>A
17g.46938617C>GCA400018918GOSR2,LRRC37A2c.496C>G (p.Leu166Val)
c.301C>G (p.Leu101Val)
c.490C>G (p.Leu164Val)
c.552C>G (p.Ser184=)
c.442C>G (p.Leu148Val)
c.139C>G (p.Leu47Val)
c.249C>G
c.352C>G (p.Leu118Val)
c.355C>G (p.Leu119Val)
c.493C>G (p.Leu165Val)
c.-15C>G (n.-15C>G)
n.388C>G
c.367C>G (p.Leu123Val)
c.162C>G (p.Ser54=)
c.435C>G
c.13C>G (p.Leu5Val)
c.296C>G (p.Pro99Arg)
c.489C>G
c.19C>G (p.Leu7Val)
n.575C>G
n.788C>G
n.572C>G
n.431C>G
c.439C>G (p.Leu147Val)
c.4810-110439C>G (n.4810-110439C>G)
n.556C>G
n.931C>G
n.529C>G
17g.46938617C>TCA400018920GOSR2,LRRC37A2c.496C>T (p.Leu166Phe)
c.301C>T (p.Leu101Phe)
c.490C>T (p.Leu164Phe)
c.552C>T (p.Ser184=)
c.442C>T (p.Leu148Phe)
c.139C>T (p.Leu47Phe)
c.249C>T
c.352C>T (p.Leu118Phe)
c.355C>T (p.Leu119Phe)
c.493C>T (p.Leu165Phe)
c.-15C>T (n.-15C>T)
n.388C>T
c.367C>T (p.Leu123Phe)
c.162C>T (p.Ser54=)
c.435C>T
c.13C>T (p.Leu5Phe)
c.296C>T (p.Pro99Leu)
c.489C>T
c.19C>T (p.Leu7Phe)
n.575C>T
n.788C>T
n.572C>T
n.431C>T
c.439C>T (p.Leu147Phe)
c.4810-110439C>T (n.4810-110439C>T)
n.556C>T
n.931C>T
n.529C>T
17g.46938618T>ACA400018922GOSR2,LRRC37A2c.497T>A (p.Leu166His)
c.302T>A (p.Leu101His)
c.491T>A (p.Leu164His)
c.553T>A (p.Leu185Met)
c.443T>A (p.Leu148His)
c.140T>A (p.Leu47His)
c.250T>A
c.353T>A (p.Leu118His)
c.356T>A (p.Leu119His)
c.494T>A (p.Leu165His)
c.-14T>A (n.-14T>A)
n.389T>A
c.368T>A (p.Leu123His)
c.163T>A (p.Leu55Met)
c.436T>A
c.14T>A (p.Leu5His)
c.297T>A (p.Pro99=)
c.490T>A
c.20T>A (p.Leu7His)
n.576T>A
n.789T>A
n.573T>A
n.432T>A
c.440T>A (p.Leu147His)
c.4810-110438T>A (n.4810-110438T>A)
n.557T>A
n.932T>A
n.530T>A
17g.46938618T>CCA400018924GOSR2,LRRC37A2c.497T>C (p.Leu166Pro)
c.302T>C (p.Leu101Pro)
c.491T>C (p.Leu164Pro)
c.553T>C (p.Leu185=)
c.443T>C (p.Leu148Pro)
c.140T>C (p.Leu47Pro)
c.250T>C
c.353T>C (p.Leu118Pro)
c.356T>C (p.Leu119Pro)
c.494T>C (p.Leu165Pro)
c.-14T>C (n.-14T>C)
n.389T>C
c.368T>C (p.Leu123Pro)
c.163T>C (p.Leu55=)
c.436T>C
c.14T>C (p.Leu5Pro)
c.297T>C (p.Pro99=)
c.490T>C
c.20T>C (p.Leu7Pro)
n.576T>C
n.789T>C
n.573T>C
n.432T>C
c.440T>C (p.Leu147Pro)
c.4810-110438T>C (n.4810-110438T>C)
n.557T>C
n.932T>C
n.530T>C
17g.46938618T>GCA400018926GOSR2,LRRC37A2c.497T>G (p.Leu166Arg)
c.302T>G (p.Leu101Arg)
c.491T>G (p.Leu164Arg)
c.553T>G (p.Leu185Val)
c.443T>G (p.Leu148Arg)
c.140T>G (p.Leu47Arg)
c.250T>G
c.353T>G (p.Leu118Arg)
c.356T>G (p.Leu119Arg)
c.494T>G (p.Leu165Arg)
c.-14T>G (n.-14T>G)
n.389T>G
c.368T>G (p.Leu123Arg)
c.163T>G (p.Leu55Val)
c.436T>G
c.14T>G (p.Leu5Arg)
c.297T>G (p.Pro99=)
c.490T>G
c.20T>G (p.Leu7Arg)
n.576T>G
n.789T>G
n.573T>G
n.432T>G
c.440T>G (p.Leu147Arg)
c.4810-110438T>G (n.4810-110438T>G)
n.557T>G
n.932T>G
n.530T>G
17g.46938619T>ACA500414506GOSR2,LRRC37A2c.498T>A (p.Leu166=)
c.303T>A (p.Leu101=)
c.492T>A (p.Leu164=)
c.554T>A (p.Leu185Ter)
c.444T>A (p.Leu148=)
c.141T>A (p.Leu47=)
c.251T>A
c.354T>A (p.Leu118=)
c.357T>A (p.Leu119=)
c.495T>A (p.Leu165=)
c.-13T>A (n.-13T>A)
n.390T>A
c.369T>A (p.Leu123=)
c.164T>A (p.Leu55Ter)
c.437T>A
c.15T>A (p.Leu5=)
c.298T>A (p.Ter100Arg)
c.491T>A
c.21T>A (p.Leu7=)
n.577T>A
n.790T>A
n.574T>A
n.433T>A
c.441T>A (p.Leu147=)
c.4810-110437T>A (n.4810-110437T>A)
n.558T>A
n.933T>A
n.531T>A
17g.46938619T>CCA500414507GOSR2,LRRC37A2c.498T>C (p.Leu166=)
c.303T>C (p.Leu101=)
c.492T>C (p.Leu164=)
c.554T>C (p.Leu185Ser)
c.444T>C (p.Leu148=)
c.141T>C (p.Leu47=)
c.251T>C
c.354T>C (p.Leu118=)
c.357T>C (p.Leu119=)
c.495T>C (p.Leu165=)
c.-13T>C (n.-13T>C)
n.390T>C
c.369T>C (p.Leu123=)
c.164T>C (p.Leu55Ser)
c.437T>C
c.15T>C (p.Leu5=)
c.298T>C (p.Ter100Arg)
c.491T>C
c.21T>C (p.Leu7=)
n.577T>C
n.790T>C
n.574T>C
n.433T>C
c.441T>C (p.Leu147=)
c.4810-110437T>C (n.4810-110437T>C)
n.558T>C
n.933T>C
n.531T>C
 gnomAD v4
17g.46938619T>GCA500414509GOSR2,LRRC37A2c.498T>G (p.Leu166=)
c.303T>G (p.Leu101=)
c.492T>G (p.Leu164=)
c.554T>G (p.Leu185Trp)
c.444T>G (p.Leu148=)
c.141T>G (p.Leu47=)
c.251T>G
c.354T>G (p.Leu118=)
c.357T>G (p.Leu119=)
c.495T>G (p.Leu165=)
c.-13T>G (n.-13T>G)
n.390T>G
c.369T>G (p.Leu123=)
c.164T>G (p.Leu55Trp)
c.437T>G
c.15T>G (p.Leu5=)
c.298T>G (p.Ter100Gly)
c.491T>G
c.21T>G (p.Leu7=)
n.577T>G
n.790T>G
n.574T>G
n.433T>G
c.441T>G (p.Leu147=)
c.4810-110437T>G (n.4810-110437T>G)
n.558T>G
n.933T>G
n.531T>G
17g.46938620G>ACA400018927GOSR2,LRRC37A2c.499G>A (p.Asp167Asn)
c.304G>A (p.Asp102Asn)
c.493G>A (p.Asp165Asn)
c.555G>A (p.Leu185=)
c.445G>A (p.Asp149Asn)
c.142G>A (p.Asp48Asn)
c.252G>A
c.355G>A (p.Asp119Asn)
c.358G>A (p.Asp120Asn)
c.496G>A (p.Asp166Asn)
c.-12G>A (n.-12G>A)
n.391G>A
c.370G>A (p.Asp124Asn)
c.165G>A (p.Leu55=)
c.438G>A
c.16G>A (p.Asp6Asn)
c.299G>A (p.Ter100=)
c.492G>A
c.22G>A (p.Asp8Asn)
n.578G>A
n.791G>A
n.575G>A
n.434G>A
c.442G>A (p.Asp148Asn)
c.4810-110436G>A (n.4810-110436G>A)
n.559G>A
n.934G>A
n.532G>A
17g.46938620G>CCA400018929GOSR2,LRRC37A2c.499G>C (p.Asp167His)
c.304G>C (p.Asp102His)
c.493G>C (p.Asp165His)
c.555G>C (p.Leu185Phe)
c.445G>C (p.Asp149His)
c.142G>C (p.Asp48His)
c.252G>C
c.355G>C (p.Asp119His)
c.358G>C (p.Asp120His)
c.496G>C (p.Asp166His)
c.-12G>C (n.-12G>C)
n.391G>C
c.370G>C (p.Asp124His)
c.165G>C (p.Leu55Phe)
c.438G>C
c.16G>C (p.Asp6His)
c.299G>C (p.Ter100Ser)
c.492G>C
c.22G>C (p.Asp8His)
n.578G>C
n.791G>C
n.575G>C
n.434G>C
c.442G>C (p.Asp148His)
c.4810-110436G>C (n.4810-110436G>C)
n.559G>C
n.934G>C
n.532G>C
17g.46938620G>TCA400018931GOSR2,LRRC37A2c.499G>T (p.Asp167Tyr)
c.304G>T (p.Asp102Tyr)
c.493G>T (p.Asp165Tyr)
c.555G>T (p.Leu185Phe)
c.445G>T (p.Asp149Tyr)
c.142G>T (p.Asp48Tyr)
c.252G>T
c.355G>T (p.Asp119Tyr)
c.358G>T (p.Asp120Tyr)
c.496G>T (p.Asp166Tyr)
c.-12G>T (n.-12G>T)
n.391G>T
c.370G>T (p.Asp124Tyr)
c.165G>T (p.Leu55Phe)
c.438G>T
c.16G>T (p.Asp6Tyr)
c.299G>T (p.Ter100Leu)
c.492G>T
c.22G>T (p.Asp8Tyr)
n.578G>T
n.791G>T
n.575G>T
n.434G>T
c.442G>T (p.Asp148Tyr)
c.4810-110436G>T (n.4810-110436G>T)
n.559G>T
n.934G>T
n.532G>T
17g.46938621A>CCA400018935GOSR2,LRRC37A2c.500A>C (p.Asp167Ala)
c.305A>C (p.Asp102Ala)
c.494A>C (p.Asp165Ala)
c.556A>C (p.Thr186Pro)
c.446A>C (p.Asp149Ala)
c.143A>C (p.Asp48Ala)
c.253A>C
c.356A>C (p.Asp119Ala)
c.359A>C (p.Asp120Ala)
c.497A>C (p.Asp166Ala)
c.-11A>C (n.-11A>C)
n.392A>C
c.371A>C (p.Asp124Ala)
c.166A>C (p.Thr56Pro)
c.439A>C
c.17A>C (p.Asp6Ala)
c.300A>C (p.Ter100Cys)
c.493A>C
c.23A>C (p.Asp8Ala)
n.579A>C
n.792A>C
n.576A>C
n.435A>C
c.443A>C (p.Asp148Ala)
c.4810-110435A>C (n.4810-110435A>C)
n.560A>C
n.935A>C
n.533A>C
17g.46938621A>GCA400018932GOSR2,LRRC37A2c.500A>G (p.Asp167Gly)
c.305A>G (p.Asp102Gly)
c.494A>G (p.Asp165Gly)
c.556A>G (p.Thr186Ala)
c.446A>G (p.Asp149Gly)
c.143A>G (p.Asp48Gly)
c.253A>G
c.356A>G (p.Asp119Gly)
c.359A>G (p.Asp120Gly)
c.497A>G (p.Asp166Gly)
c.-11A>G (n.-11A>G)
n.392A>G
c.371A>G (p.Asp124Gly)
c.166A>G (p.Thr56Ala)
c.439A>G
c.17A>G (p.Asp6Gly)
c.300A>G (p.Ter100Trp)
c.493A>G
c.23A>G (p.Asp8Gly)
n.579A>G
n.792A>G
n.576A>G
n.435A>G
c.443A>G (p.Asp148Gly)
c.4810-110435A>G (n.4810-110435A>G)
n.560A>G
n.935A>G
n.533A>G
17g.46938621A>TCA400018933GOSR2,LRRC37A2c.500A>T (p.Asp167Val)
c.305A>T (p.Asp102Val)
c.494A>T (p.Asp165Val)
c.556A>T (p.Thr186Ser)
c.446A>T (p.Asp149Val)
c.143A>T (p.Asp48Val)
c.253A>T
c.356A>T (p.Asp119Val)
c.359A>T (p.Asp120Val)
c.497A>T (p.Asp166Val)
c.-11A>T (n.-11A>T)
n.392A>T
c.371A>T (p.Asp124Val)
c.166A>T (p.Thr56Ser)
c.439A>T
c.17A>T (p.Asp6Val)
c.300A>T (p.Ter100Cys)
c.493A>T
c.23A>T (p.Asp8Val)
n.579A>T
n.792A>T
n.576A>T
n.435A>T
c.443A>T (p.Asp148Val)
c.4810-110435A>T (n.4810-110435A>T)
n.560A>T
n.935A>T
n.533A>T
17g.46938622C>ACA400018937GOSR2,LRRC37A2c.501C>A (p.Asp167Glu)
c.306C>A (p.Asp102Glu)
c.495C>A (p.Asp165Glu)
c.557C>A (p.Thr186Lys)
c.447C>A (p.Asp149Glu)
c.144C>A (p.Asp48Glu)
c.254C>A
c.357C>A (p.Asp119Glu)
c.360C>A (p.Asp120Glu)
c.498C>A (p.Asp166Glu)
c.-10C>A (n.-10C>A)
n.393C>A
c.372C>A (p.Asp124Glu)
c.167C>A (p.Thr56Lys)
c.440C>A
c.18C>A (p.Asp6Glu)
c.301C>A (n.301C>A)
c.494C>A
c.24C>A (p.Asp8Glu)
n.580C>A
n.793C>A
n.577C>A
n.436C>A
c.444C>A (p.Asp148Glu)
c.4810-110434C>A (n.4810-110434C>A)
n.561C>A
n.936C>A
n.534C>A
17g.46938622C>GCA400018939GOSR2,LRRC37A2c.501C>G (p.Asp167Glu)
c.306C>G (p.Asp102Glu)
c.495C>G (p.Asp165Glu)
c.557C>G (p.Thr186Arg)
c.447C>G (p.Asp149Glu)
c.144C>G (p.Asp48Glu)
c.254C>G
c.357C>G (p.Asp119Glu)
c.360C>G (p.Asp120Glu)
c.498C>G (p.Asp166Glu)
c.-10C>G (n.-10C>G)
n.393C>G
c.372C>G (p.Asp124Glu)
c.167C>G (p.Thr56Arg)
c.440C>G
c.18C>G (p.Asp6Glu)
c.301C>G (n.301C>G)
c.494C>G
c.24C>G (p.Asp8Glu)
n.580C>G
n.793C>G
n.577C>G
n.436C>G
c.444C>G (p.Asp148Glu)
c.4810-110434C>G (n.4810-110434C>G)
n.561C>G
n.936C>G
n.534C>G
 gnomAD v4
17g.46938622C>TCA500414517GOSR2,LRRC37A2c.501C>T (p.Asp167=)
c.306C>T (p.Asp102=)
c.495C>T (p.Asp165=)
c.557C>T (p.Thr186Ile)
c.447C>T (p.Asp149=)
c.144C>T (p.Asp48=)
c.254C>T
c.357C>T (p.Asp119=)
c.360C>T (p.Asp120=)
c.498C>T (p.Asp166=)
c.-10C>T (n.-10C>T)
n.393C>T
c.372C>T (p.Asp124=)
c.167C>T (p.Thr56Ile)
c.440C>T
c.18C>T (p.Asp6=)
c.301C>T (n.301C>T)
c.494C>T
c.24C>T (p.Asp8=)
n.580C>T
n.793C>T
n.577C>T
n.436C>T
c.444C>T (p.Asp148=)
c.4810-110434C>T (n.4810-110434C>T)
n.561C>T
n.936C>T
n.534C>T
17g.46938623A>CCA400018940GOSR2,LRRC37A2c.502A>C (p.Ile168Leu)
c.307A>C (p.Ile103Leu)
c.496A>C (p.Ile166Leu)
c.558A>C (p.Thr186=)
c.448A>C (p.Ile150Leu)
c.145A>C (p.Ile49Leu)
c.255A>C
c.358A>C (p.Ile120Leu)
c.361A>C (p.Ile121Leu)
c.499A>C (p.Ile167Leu)
c.-9A>C (n.-9A>C)
n.394A>C
c.373A>C (p.Ile125Leu)
c.168A>C (p.Thr56=)
c.441A>C
c.19A>C (p.Ile7Leu)
c.302A>C (n.302A>C)
c.495A>C
c.25A>C (p.Ile9Leu)
n.581A>C
n.794A>C
n.578A>C
n.437A>C
c.445A>C (p.Ile149Leu)
c.4810-110433A>C (n.4810-110433A>C)
n.562A>C
n.937A>C
n.535A>C
17g.46938623A>GCA400018942GOSR2,LRRC37A2c.502A>G (p.Ile168Val)
c.307A>G (p.Ile103Val)
c.496A>G (p.Ile166Val)
c.558A>G (p.Thr186=)
c.448A>G (p.Ile150Val)
c.145A>G (p.Ile49Val)
c.255A>G
c.358A>G (p.Ile120Val)
c.361A>G (p.Ile121Val)
c.499A>G (p.Ile167Val)
c.-9A>G (n.-9A>G)
n.394A>G
c.373A>G (p.Ile125Val)
c.168A>G (p.Thr56=)
c.441A>G
c.19A>G (p.Ile7Val)
c.302A>G (n.302A>G)
c.495A>G
c.25A>G (p.Ile9Val)
n.581A>G
n.794A>G
n.578A>G
n.437A>G
c.445A>G (p.Ile149Val)
c.4810-110433A>G (n.4810-110433A>G)
n.562A>G
n.937A>G
n.535A>G
17g.46938623A>TCA400018944GOSR2,LRRC37A2c.502A>T (p.Ile168Phe)
c.307A>T (p.Ile103Phe)
c.496A>T (p.Ile166Phe)
c.558A>T (p.Thr186=)
c.448A>T (p.Ile150Phe)
c.145A>T (p.Ile49Phe)
c.255A>T
c.358A>T (p.Ile120Phe)
c.361A>T (p.Ile121Phe)
c.499A>T (p.Ile167Phe)
c.-9A>T (n.-9A>T)
n.394A>T
c.373A>T (p.Ile125Phe)
c.168A>T (p.Thr56=)
c.441A>T
c.19A>T (p.Ile7Phe)
c.302A>T (n.302A>T)
c.495A>T
c.25A>T (p.Ile9Phe)
n.581A>T
n.794A>T
n.578A>T
n.437A>T
c.445A>T (p.Ile149Phe)
c.4810-110433A>T (n.4810-110433A>T)
n.562A>T
n.937A>T
n.535A>T
17g.46938624T>ACA400018945GOSR2,LRRC37A2c.503T>A (p.Ile168Asn)
c.308T>A (p.Ile103Asn)
c.497T>A (p.Ile166Asn)
c.559T>A (p.Leu187Met)
c.449T>A (p.Ile150Asn)
c.146T>A (p.Ile49Asn)
c.256T>A
c.359T>A (p.Ile120Asn)
c.362T>A (p.Ile121Asn)
c.500T>A (p.Ile167Asn)
c.-8T>A (n.-8T>A)
n.395T>A
c.374T>A (p.Ile125Asn)
c.169T>A (p.Leu57Met)
c.442T>A
c.20T>A (p.Ile7Asn)
c.303T>A (n.303T>A)
c.496T>A
c.26T>A (p.Ile9Asn)
n.582T>A
n.795T>A
n.579T>A
n.438T>A
c.446T>A (p.Ile149Asn)
c.4810-110432T>A (n.4810-110432T>A)
n.563T>A
n.938T>A
n.536T>A
17g.46938624T>CCA400018947GOSR2,LRRC37A2c.503T>C (p.Ile168Thr)
c.308T>C (p.Ile103Thr)
c.497T>C (p.Ile166Thr)
c.559T>C (p.Leu187=)
c.449T>C (p.Ile150Thr)
c.146T>C (p.Ile49Thr)
c.256T>C
c.359T>C (p.Ile120Thr)
c.362T>C (p.Ile121Thr)
c.500T>C (p.Ile167Thr)
c.-8T>C (n.-8T>C)
n.395T>C
c.374T>C (p.Ile125Thr)
c.169T>C (p.Leu57=)
c.442T>C
c.20T>C (p.Ile7Thr)
c.303T>C (n.303T>C)
c.496T>C
c.26T>C (p.Ile9Thr)
n.582T>C
n.795T>C
n.579T>C
n.438T>C
c.446T>C (p.Ile149Thr)
c.4810-110432T>C (n.4810-110432T>C)
n.563T>C
n.938T>C
n.536T>C
17g.46938624T>GCA400018948GOSR2,LRRC37A2c.503T>G (p.Ile168Ser)
c.308T>G (p.Ile103Ser)
c.497T>G (p.Ile166Ser)
c.559T>G (p.Leu187Val)
c.449T>G (p.Ile150Ser)
c.146T>G (p.Ile49Ser)
c.256T>G
c.359T>G (p.Ile120Ser)
c.362T>G (p.Ile121Ser)
c.500T>G (p.Ile167Ser)
c.-8T>G (n.-8T>G)
n.395T>G
c.374T>G (p.Ile125Ser)
c.169T>G (p.Leu57Val)
c.442T>G
c.20T>G (p.Ile7Ser)
c.303T>G (n.303T>G)
c.496T>G
c.26T>G (p.Ile9Ser)
n.582T>G
n.795T>G
n.579T>G
n.438T>G
c.446T>G (p.Ile149Ser)
c.4810-110432T>G (n.4810-110432T>G)
n.563T>G
n.938T>G
n.536T>G
17g.46938625T>ACA500414528GOSR2,LRRC37A2c.504T>A (p.Ile168=)
c.309T>A (p.Ile103=)
c.498T>A (p.Ile166=)
c.560T>A (p.Leu187Ter)
c.450T>A (p.Ile150=)
c.147T>A (p.Ile49=)
c.257T>A
c.360T>A (p.Ile120=)
c.363T>A (p.Ile121=)
c.501T>A (p.Ile167=)
c.-7T>A (n.-7T>A)
n.396T>A
c.375T>A (p.Ile125=)
c.170T>A (p.Leu57Ter)
c.443T>A
c.21T>A (p.Ile7=)
c.304T>A (n.304T>A)
c.497T>A
c.27T>A (p.Ile9=)
n.583T>A
n.796T>A
n.580T>A
n.439T>A
c.447T>A (p.Ile149=)
c.4810-110431T>A (n.4810-110431T>A)
n.564T>A
n.939T>A
n.537T>A
17g.46938625T>CCA500414526GOSR2,LRRC37A2c.504T>C (p.Ile168=)
c.309T>C (p.Ile103=)
c.498T>C (p.Ile166=)
c.560T>C (p.Leu187Ser)
c.450T>C (p.Ile150=)
c.147T>C (p.Ile49=)
c.257T>C
c.360T>C (p.Ile120=)
c.363T>C (p.Ile121=)
c.501T>C (p.Ile167=)
c.-7T>C (n.-7T>C)
n.396T>C
c.375T>C (p.Ile125=)
c.170T>C (p.Leu57Ser)
c.443T>C
c.21T>C (p.Ile7=)
c.304T>C (n.304T>C)
c.497T>C
c.27T>C (p.Ile9=)
n.583T>C
n.796T>C
n.580T>C
n.439T>C
c.447T>C (p.Ile149=)
c.4810-110431T>C (n.4810-110431T>C)
n.564T>C
n.939T>C
n.537T>C
17g.46938625T>GCA400018949GOSR2,LRRC37A2c.504T>G (p.Ile168Met)
c.309T>G (p.Ile103Met)
c.498T>G (p.Ile166Met)
c.560T>G (p.Leu187Trp)
c.450T>G (p.Ile150Met)
c.147T>G (p.Ile49Met)
c.257T>G
c.360T>G (p.Ile120Met)
c.363T>G (p.Ile121Met)
c.501T>G (p.Ile167Met)
c.-7T>G (n.-7T>G)
n.396T>G
c.375T>G (p.Ile125Met)
c.170T>G (p.Leu57Trp)
c.443T>G
c.21T>G (p.Ile7Met)
c.304T>G (n.304T>G)
c.497T>G
c.27T>G (p.Ile9Met)
n.583T>G
n.796T>G
n.580T>G
n.439T>G
c.447T>G (p.Ile149Met)
c.4810-110431T>G (n.4810-110431T>G)
n.564T>G
n.939T>G
n.537T>G
17g.46938626G>ACA400018951GOSR2,LRRC37A2c.505G>A (p.Ala169Thr)
c.310G>A (p.Ala104Thr)
c.499G>A (p.Ala167Thr)
c.561G>A (p.Leu187=)
c.451G>A (p.Ala151Thr)
c.148G>A (p.Ala50Thr)
c.258G>A
c.361G>A (p.Ala121Thr)
c.364G>A (p.Ala122Thr)
c.502G>A (p.Ala168Thr)
c.-6G>A (n.-6G>A)
n.397G>A
c.376G>A (p.Ala126Thr)
c.171G>A (p.Leu57=)
c.444G>A
c.22G>A (p.Ala8Thr)
c.305G>A (n.305G>A)
c.498G>A
c.28G>A (p.Ala10Thr)
n.584G>A
n.797G>A
n.581G>A
n.440G>A
c.448G>A (p.Ala150Thr)
c.4810-110430G>A (n.4810-110430G>A)
n.565G>A
n.940G>A
n.538G>A
17g.46938626G>CCA400018952GOSR2,LRRC37A2c.505G>C (p.Ala169Pro)
c.310G>C (p.Ala104Pro)
c.499G>C (p.Ala167Pro)
c.561G>C (p.Leu187Phe)
c.451G>C (p.Ala151Pro)
c.148G>C (p.Ala50Pro)
c.258G>C
c.361G>C (p.Ala121Pro)
c.364G>C (p.Ala122Pro)
c.502G>C (p.Ala168Pro)
c.-6G>C (n.-6G>C)
n.397G>C
c.376G>C (p.Ala126Pro)
c.171G>C (p.Leu57Phe)
c.444G>C
c.22G>C (p.Ala8Pro)
c.305G>C (n.305G>C)
c.498G>C
c.28G>C (p.Ala10Pro)
n.584G>C
n.797G>C
n.581G>C
n.440G>C
c.448G>C (p.Ala150Pro)
c.4810-110430G>C (n.4810-110430G>C)
n.565G>C
n.940G>C
n.538G>C
17g.46938626G>TCA400018953GOSR2,LRRC37A2c.505G>T (p.Ala169Ser)
c.310G>T (p.Ala104Ser)
c.499G>T (p.Ala167Ser)
c.561G>T (p.Leu187Phe)
c.451G>T (p.Ala151Ser)
c.148G>T (p.Ala50Ser)
c.258G>T
c.361G>T (p.Ala121Ser)
c.364G>T (p.Ala122Ser)
c.502G>T (p.Ala168Ser)
c.-6G>T (n.-6G>T)
n.397G>T
c.376G>T (p.Ala126Ser)
c.171G>T (p.Leu57Phe)
c.444G>T
c.22G>T (p.Ala8Ser)
c.305G>T (n.305G>T)
c.498G>T
c.28G>T (p.Ala10Ser)
n.584G>T
n.797G>T
n.581G>T
n.440G>T
c.448G>T (p.Ala150Ser)
c.4810-110430G>T (n.4810-110430G>T)
n.565G>T
n.940G>T
n.538G>T
17g.46938626_46938632dupCA2638414196GOSR2,LRRC37A2c.505_511dup (p.Met171SerfsTer?)
c.310_316dup (p.Met106SerfsTer?)
c.499_505dup (p.Met169SerfsTer?)
c.561_567dup (p.Cys190AlafsTer?)
c.451_457dup (p.Met153SerfsTer?)
c.148_154dup (p.Met52SerfsTer?)
c.258_264dup
c.361_367dup (p.Met123SerfsTer?)
c.364_370dup (p.Met124SerfsTer?)
c.502_508dup (p.Met170SerfsTer?)
c.-6_1dup (p.Met1SerfsTer?)
n.397_403dup
c.364_370dup (p.Met124SerfsTer29)
c.451_457dup (p.Met153SerfsTer29)
c.376_382dup (p.Met128SerfsTer?)
c.505_511dup (p.Met171SerfsTer29)
c.171_177dup (p.Cys60AlafsTer?)
c.444_450dup
c.22_28dup (p.Met10SerfsTer?)
c.305_311dup (n.305_311dup)
c.498_504dup
c.28_34dup (p.Met12SerfsTer?)
n.584_590dup
n.797_803dup
n.581_587dup
n.440_446dup
c.448_454dup (p.Met152SerfsTer?)
c.4810-110430_4810-110424dup (n.4810-110430_4810-110424dup)
n.565_571dup
n.940_946dup
n.538_544dup
 gnomAD v4
17g.46938627C>ACA400018955GOSR2,LRRC37A2c.506C>A (p.Ala169Asp)
c.311C>A (p.Ala104Asp)
c.500C>A (p.Ala167Asp)
c.562C>A (p.Pro188Thr)
c.452C>A (p.Ala151Asp)
c.149C>A (p.Ala50Asp)
c.259C>A
c.362C>A (p.Ala121Asp)
c.365C>A (p.Ala122Asp)
c.503C>A (p.Ala168Asp)
c.-5C>A (n.-5C>A)
n.398C>A
c.377C>A (p.Ala126Asp)
c.172C>A (p.Pro58Thr)
c.445C>A
c.23C>A (p.Ala8Asp)
c.306C>A (n.306C>A)
c.499C>A
c.29C>A (p.Ala10Asp)
n.585C>A
n.798C>A
n.582C>A
n.441C>A
c.449C>A (p.Ala150Asp)
c.4810-110429C>A (n.4810-110429C>A)
n.566C>A
n.941C>A
n.539C>A
17g.46938627C=CA2262452841GOSR2,LRRC37A2c.506C= (p.Ala169=)
c.311C= (p.Ala104=)
c.500C= (p.Ala167=)
c.562C= (p.Pro188=)
c.452C= (p.Ala151=)
c.149C= (p.Ala50=)
c.259C=
c.362C= (p.Ala121=)
c.365C= (p.Ala122=)
c.503C= (p.Ala168=)
c.-5C= (n.-5C=)
n.398C=
c.377C= (p.Ala126=)
c.172C= (p.Pro58=)
c.445C=
c.23C= (p.Ala8=)
c.306C= (n.306C=)
c.499C=
c.29C= (p.Ala10=)
n.585C=
n.798C=
n.582C=
n.441C=
c.449C= (p.Ala150=)
c.4810-110429C= (n.4810-110429C=)
n.566C=
n.941C=
n.539C=
17g.46938627C>GCA400018959GOSR2,LRRC37A2c.506C>G (p.Ala169Gly)
c.311C>G (p.Ala104Gly)
c.500C>G (p.Ala167Gly)
c.562C>G (p.Pro188Ala)
c.452C>G (p.Ala151Gly)
c.149C>G (p.Ala50Gly)
c.259C>G
c.362C>G (p.Ala121Gly)
c.365C>G (p.Ala122Gly)
c.503C>G (p.Ala168Gly)
c.-5C>G (n.-5C>G)
n.398C>G
c.377C>G (p.Ala126Gly)
c.172C>G (p.Pro58Ala)
c.445C>G
c.23C>G (p.Ala8Gly)
c.306C>G (n.306C>G)
c.499C>G
c.29C>G (p.Ala10Gly)
n.585C>G
n.798C>G
n.582C>G
n.441C>G
c.449C>G (p.Ala150Gly)
c.4810-110429C>G (n.4810-110429C>G)
n.566C>G
n.941C>G
n.539C>G
 ClinVar dbSNP
17g.46938627C>TCA400018957GOSR2,LRRC37A2c.506C>T (p.Ala169Val)
c.311C>T (p.Ala104Val)
c.500C>T (p.Ala167Val)
c.562C>T (p.Pro188Ser)
c.452C>T (p.Ala151Val)
c.149C>T (p.Ala50Val)
c.259C>T
c.362C>T (p.Ala121Val)
c.365C>T (p.Ala122Val)
c.503C>T (p.Ala168Val)
c.-5C>T (n.-5C>T)
n.398C>T
c.377C>T (p.Ala126Val)
c.172C>T (p.Pro58Ser)
c.445C>T
c.23C>T (p.Ala8Val)
c.306C>T (n.306C>T)
c.499C>T
c.29C>T (p.Ala10Val)
n.585C>T
n.798C>T
n.582C>T
n.441C>T
c.449C>T (p.Ala150Val)
c.4810-110429C>T (n.4810-110429C>T)
n.566C>T
n.941C>T
n.539C>T
 dbSNP gnomAD v3 gnomAD v4
17g.46938628C>ACA500414534GOSR2,LRRC37A2c.507C>A (p.Ala169=)
c.312C>A (p.Ala104=)
c.501C>A (p.Ala167=)
c.563C>A (p.Pro188Gln)
c.453C>A (p.Ala151=)
c.150C>A (p.Ala50=)
c.260C>A
c.363C>A (p.Ala121=)
c.366C>A (p.Ala122=)
c.504C>A (p.Ala168=)
c.-4C>A (n.-4C>A)
n.399C>A
c.378C>A (p.Ala126=)
c.173C>A (p.Pro58Gln)
c.446C>A
c.24C>A (p.Ala8=)
c.307C>A (n.307C>A)
c.500C>A
c.30C>A (p.Ala10=)
n.586C>A
n.799C>A
n.583C>A
n.442C>A
c.450C>A (p.Ala150=)
c.4810-110428C>A (n.4810-110428C>A)
n.567C>A
n.942C>A
n.540C>A
17g.46938628C=CA2262452842GOSR2,LRRC37A2c.507C= (p.Ala169=)
c.312C= (p.Ala104=)
c.501C= (p.Ala167=)
c.563C= (p.Pro188=)
c.453C= (p.Ala151=)
c.150C= (p.Ala50=)
c.260C=
c.363C= (p.Ala121=)
c.366C= (p.Ala122=)
c.504C= (p.Ala168=)
c.-4C= (n.-4C=)
n.399C=
c.378C= (p.Ala126=)
c.173C= (p.Pro58=)
c.446C=
c.24C= (p.Ala8=)
c.307C= (n.307C=)
c.500C=
c.30C= (p.Ala10=)
n.586C=
n.799C=
n.583C=
n.442C=
c.450C= (p.Ala150=)
c.4810-110428C= (n.4810-110428C=)
n.567C=
n.942C=
n.540C=
17g.46938628C>GCA500414532GOSR2,LRRC37A2c.507C>G (p.Ala169=)
c.312C>G (p.Ala104=)
c.501C>G (p.Ala167=)
c.563C>G (p.Pro188Arg)
c.453C>G (p.Ala151=)
c.150C>G (p.Ala50=)
c.260C>G
c.363C>G (p.Ala121=)
c.366C>G (p.Ala122=)
c.504C>G (p.Ala168=)
c.-4C>G (n.-4C>G)
n.399C>G
c.378C>G (p.Ala126=)
c.173C>G (p.Pro58Arg)
c.446C>G
c.24C>G (p.Ala8=)
c.307C>G (n.307C>G)
c.500C>G
c.30C>G (p.Ala10=)
n.586C>G
n.799C>G
n.583C>G
n.442C>G
c.450C>G (p.Ala150=)
c.4810-110428C>G (n.4810-110428C>G)
n.567C>G
n.942C>G
n.540C>G
 dbSNP gnomAD v3 gnomAD v4
17g.46938628C>TCA500414536GOSR2,LRRC37A2c.507C>T (p.Ala169=)
c.312C>T (p.Ala104=)
c.501C>T (p.Ala167=)
c.563C>T (p.Pro188Leu)
c.453C>T (p.Ala151=)
c.150C>T (p.Ala50=)
c.260C>T
c.363C>T (p.Ala121=)
c.366C>T (p.Ala122=)
c.504C>T (p.Ala168=)
c.-4C>T (n.-4C>T)
n.399C>T
c.378C>T (p.Ala126=)
c.173C>T (p.Pro58Leu)
c.446C>T
c.24C>T (p.Ala8=)
c.307C>T (n.307C>T)
c.500C>T
c.30C>T (p.Ala10=)
n.586C>T
n.799C>T
n.583C>T
n.442C>T
c.450C>T (p.Ala150=)
c.4810-110428C>T (n.4810-110428C>T)
n.567C>T
n.942C>T
n.540C>T
17g.46938629A>CCA400018960GOSR2,LRRC37A2c.508A>C (p.Asn170His)
c.313A>C (p.Asn105His)
c.502A>C (p.Asn168His)
c.564A>C (p.Pro188=)
c.454A>C (p.Asn152His)
c.151A>C (p.Asn51His)
c.261A>C
c.364A>C (p.Asn122His)
c.367A>C (p.Asn123His)
c.505A>C (p.Asn169His)
c.-3A>C (n.-3A>C)
n.400A>C
c.379A>C (p.Asn127His)
c.174A>C (p.Pro58=)
c.447A>C
c.25A>C (p.Asn9His)
c.308A>C (n.308A>C)
c.501A>C
c.31A>C (p.Asn11His)
n.587A>C
n.800A>C
n.584A>C
n.443A>C
c.451A>C (p.Asn151His)
c.4810-110427A>C (n.4810-110427A>C)
n.568A>C
n.943A>C
n.541A>C
17g.46938629A>GCA400018962GOSR2,LRRC37A2c.508A>G (p.Asn170Asp)
c.313A>G (p.Asn105Asp)
c.502A>G (p.Asn168Asp)
c.564A>G (p.Pro188=)
c.454A>G (p.Asn152Asp)
c.151A>G (p.Asn51Asp)
c.261A>G
c.364A>G (p.Asn122Asp)
c.367A>G (p.Asn123Asp)
c.505A>G (p.Asn169Asp)
c.-3A>G (n.-3A>G)
n.400A>G
c.379A>G (p.Asn127Asp)
c.174A>G (p.Pro58=)
c.447A>G
c.25A>G (p.Asn9Asp)
c.308A>G (n.308A>G)
c.501A>G
c.31A>G (p.Asn11Asp)
n.587A>G
n.800A>G
n.584A>G
n.443A>G
c.451A>G (p.Asn151Asp)
c.4810-110427A>G (n.4810-110427A>G)
n.568A>G
n.943A>G
n.541A>G
17g.46938629A>TCA400018961GOSR2,LRRC37A2c.508A>T (p.Asn170Tyr)
c.313A>T (p.Asn105Tyr)
c.502A>T (p.Asn168Tyr)
c.564A>T (p.Pro188=)
c.454A>T (p.Asn152Tyr)
c.151A>T (p.Asn51Tyr)
c.261A>T
c.364A>T (p.Asn122Tyr)
c.367A>T (p.Asn123Tyr)
c.505A>T (p.Asn169Tyr)
c.-3A>T (n.-3A>T)
n.400A>T
c.379A>T (p.Asn127Tyr)
c.174A>T (p.Pro58=)
c.447A>T
c.25A>T (p.Asn9Tyr)
c.308A>T (n.308A>T)
c.501A>T
c.31A>T (p.Asn11Tyr)
n.587A>T
n.800A>T
n.584A>T
n.443A>T
c.451A>T (p.Asn151Tyr)
c.4810-110427A>T (n.4810-110427A>T)
n.568A>T
n.943A>T
n.541A>T
17g.46938630A=CA2262452843GOSR2,LRRC37A2c.509A= (p.Asn170=)
c.314A= (p.Asn105=)
c.503A= (p.Asn168=)
c.565A= (p.Thr189=)
c.455A= (p.Asn152=)
c.152A= (p.Asn51=)
c.262A=
c.365A= (p.Asn122=)
c.368A= (p.Asn123=)
c.506A= (p.Asn169=)
c.-2A= (n.-2A=)
n.401A=
c.380A= (p.Asn127=)
c.175A= (p.Thr59=)
c.448A=
c.26A= (p.Asn9=)
c.309A= (n.309A=)
c.502A=
c.32A= (p.Asn11=)
n.588A=
n.801A=
n.585A=
n.444A=
c.452A= (p.Asn151=)
c.4810-110426A= (n.4810-110426A=)
n.569A=
n.944A=
n.542A=
17g.46938630A>CCA400018964GOSR2,LRRC37A2c.509A>C (p.Asn170Thr)
c.314A>C (p.Asn105Thr)
c.503A>C (p.Asn168Thr)
c.565A>C (p.Thr189Pro)
c.455A>C (p.Asn152Thr)
c.152A>C (p.Asn51Thr)
c.262A>C
c.365A>C (p.Asn122Thr)
c.368A>C (p.Asn123Thr)
c.506A>C (p.Asn169Thr)
c.-2A>C (n.-2A>C)
n.401A>C
c.380A>C (p.Asn127Thr)
c.175A>C (p.Thr59Pro)
c.448A>C
c.26A>C (p.Asn9Thr)
c.309A>C (n.309A>C)
c.502A>C
c.32A>C (p.Asn11Thr)
n.588A>C
n.801A>C
n.585A>C
n.444A>C
c.452A>C (p.Asn151Thr)
c.4810-110426A>C (n.4810-110426A>C)
n.569A>C
n.944A>C
n.542A>C
17g.46938630A>GCA314904GOSR2,LRRC37A2c.509A>G (p.Asn170Ser)
c.314A>G (p.Asn105Ser)
c.503A>G (p.Asn168Ser)
c.565A>G (p.Thr189Ala)
c.455A>G (p.Asn152Ser)
c.152A>G (p.Asn51Ser)
c.262A>G
c.365A>G (p.Asn122Ser)
c.368A>G (p.Asn123Ser)
c.506A>G (p.Asn169Ser)
c.-2A>G (n.-2A>G)
n.401A>G
c.380A>G (p.Asn127Ser)
c.175A>G (p.Thr59Ala)
c.448A>G
c.26A>G (p.Asn9Ser)
c.309A>G (n.309A>G)
c.502A>G
c.32A>G (p.Asn11Ser)
n.588A>G
n.801A>G
n.585A>G
n.444A>G
c.452A>G (p.Asn151Ser)
c.4810-110426A>G (n.4810-110426A>G)
n.569A>G
n.944A>G
n.542A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938630A>TCA400018965GOSR2,LRRC37A2c.509A>T (p.Asn170Ile)
c.314A>T (p.Asn105Ile)
c.503A>T (p.Asn168Ile)
c.565A>T (p.Thr189Ser)
c.455A>T (p.Asn152Ile)
c.152A>T (p.Asn51Ile)
c.262A>T
c.365A>T (p.Asn122Ile)
c.368A>T (p.Asn123Ile)
c.506A>T (p.Asn169Ile)
c.-2A>T (n.-2A>T)
n.401A>T
c.380A>T (p.Asn127Ile)
c.175A>T (p.Thr59Ser)
c.448A>T
c.26A>T (p.Asn9Ile)
c.309A>T (n.309A>T)
c.502A>T
c.32A>T (p.Asn11Ile)
n.588A>T
n.801A>T
n.585A>T
n.444A>T
c.452A>T (p.Asn151Ile)
c.4810-110426A>T (n.4810-110426A>T)
n.569A>T
n.944A>T
n.542A>T
17g.46938631C>ACA400018968GOSR2,LRRC37A2c.510C>A (p.Asn170Lys)
c.315C>A (p.Asn105Lys)
c.504C>A (p.Asn168Lys)
c.566C>A (p.Thr189Lys)
c.456C>A (p.Asn152Lys)
c.153C>A (p.Asn51Lys)
c.263C>A
c.366C>A (p.Asn122Lys)
c.369C>A (p.Asn123Lys)
c.507C>A (p.Asn169Lys)
c.-1C>A (n.-1C>A)
n.402C>A
c.381C>A (p.Asn127Lys)
c.176C>A (p.Thr59Lys)
c.449C>A
c.27C>A (p.Asn9Lys)
c.310C>A (n.310C>A)
c.503C>A
c.33C>A (p.Asn11Lys)
n.589C>A
n.802C>A
n.586C>A
n.445C>A
c.453C>A (p.Asn151Lys)
c.4810-110425C>A (n.4810-110425C>A)
n.570C>A
n.945C>A
n.543C>A
17g.46938631C=CA2262452844GOSR2,LRRC37A2c.510C= (p.Asn170=)
c.315C= (p.Asn105=)
c.504C= (p.Asn168=)
c.566C= (p.Thr189=)
c.456C= (p.Asn152=)
c.153C= (p.Asn51=)
c.263C=
c.366C= (p.Asn122=)
c.369C= (p.Asn123=)
c.507C= (p.Asn169=)
c.-1C= (n.-1C=)
n.402C=
c.381C= (p.Asn127=)
c.176C= (p.Thr59=)
c.449C=
c.27C= (p.Asn9=)
c.310C= (n.310C=)
c.503C=
c.33C= (p.Asn11=)
n.589C=
n.802C=
n.586C=
n.445C=
c.453C= (p.Asn151=)
c.4810-110425C= (n.4810-110425C=)
n.570C=
n.945C=
n.543C=
17g.46938631C>GCA8621346GOSR2,LRRC37A2c.510C>G (p.Asn170Lys)
c.315C>G (p.Asn105Lys)
c.504C>G (p.Asn168Lys)
c.566C>G (p.Thr189Arg)
c.456C>G (p.Asn152Lys)
c.153C>G (p.Asn51Lys)
c.263C>G
c.366C>G (p.Asn122Lys)
c.369C>G (p.Asn123Lys)
c.507C>G (p.Asn169Lys)
c.-1C>G (n.-1C>G)
n.402C>G
c.381C>G (p.Asn127Lys)
c.176C>G (p.Thr59Arg)
c.449C>G
c.27C>G (p.Asn9Lys)
c.310C>G (n.310C>G)
c.503C>G
c.33C>G (p.Asn11Lys)
n.589C>G
n.802C>G
n.586C>G
n.445C>G
c.453C>G (p.Asn151Lys)
c.4810-110425C>G (n.4810-110425C>G)
n.570C>G
n.945C>G
n.543C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938631C>TCA500414544GOSR2,LRRC37A2c.510C>T (p.Asn170=)
c.315C>T (p.Asn105=)
c.504C>T (p.Asn168=)
c.566C>T (p.Thr189Ile)
c.456C>T (p.Asn152=)
c.153C>T (p.Asn51=)
c.263C>T
c.366C>T (p.Asn122=)
c.369C>T (p.Asn123=)
c.507C>T (p.Asn169=)
c.-1C>T (n.-1C>T)
n.402C>T
c.381C>T (p.Asn127=)
c.176C>T (p.Thr59Ile)
c.449C>T
c.27C>T (p.Asn9=)
c.310C>T (n.310C>T)
c.503C>T
c.33C>T (p.Asn11=)
n.589C>T
n.802C>T
n.586C>T
n.445C>T
c.453C>T (p.Asn151=)
c.4810-110425C>T (n.4810-110425C>T)
n.570C>T
n.945C>T
n.543C>T
 gnomAD v4
17g.46938632A=CA2262452845GOSR2,LRRC37A2c.511A= (p.Met171=)
c.316A= (p.Met106=)
c.505A= (p.Met169=)
c.567A= (p.Thr189=)
c.457A= (p.Met153=)
c.154A= (p.Met52=)
c.264A=
c.367A= (p.Met123=)
c.370A= (p.Met124=)
c.508A= (p.Met170=)
c.1A= (p.Met1=)
n.403A=
c.382A= (p.Met128=)
c.177A= (p.Thr59=)
c.450A=
c.28A= (p.Met10=)
c.311A= (n.311A=)
c.504A=
c.34A= (p.Met12=)
n.590A=
n.803A=
n.587A=
n.446A=
c.454A= (p.Met152=)
c.4810-110424A= (n.4810-110424A=)
n.571A=
n.946A=
n.544A=
17g.46938632A>CCA400018970GOSR2,LRRC37A2c.511A>C (p.Met171Leu)
c.316A>C (p.Met106Leu)
c.505A>C (p.Met169Leu)
c.567A>C (p.Thr189=)
c.457A>C (p.Met153Leu)
c.154A>C (p.Met52Leu)
c.264A>C
c.367A>C (p.Met123Leu)
c.370A>C (p.Met124Leu)
c.508A>C (p.Met170Leu)
c.1A>C (p.Met1Leu)
n.403A>C
c.382A>C (p.Met128Leu)
c.177A>C (p.Thr59=)
c.450A>C
c.28A>C (p.Met10Leu)
c.311A>C (n.311A>C)
c.504A>C
c.34A>C (p.Met12Leu)
n.590A>C
n.803A>C
n.587A>C
n.446A>C
c.454A>C (p.Met152Leu)
c.4810-110424A>C (n.4810-110424A>C)
n.571A>C
n.946A>C
n.544A>C
17g.46938632A>GCA400018972GOSR2,LRRC37A2c.511A>G (p.Met171Val)
c.316A>G (p.Met106Val)
c.505A>G (p.Met169Val)
c.567A>G (p.Thr189=)
c.457A>G (p.Met153Val)
c.154A>G (p.Met52Val)
c.264A>G
c.367A>G (p.Met123Val)
c.370A>G (p.Met124Val)
c.508A>G (p.Met170Val)
c.1A>G (p.Met1Val)
n.403A>G
c.382A>G (p.Met128Val)
c.177A>G (p.Thr59=)
c.450A>G
c.28A>G (p.Met10Val)
c.311A>G (n.311A>G)
c.504A>G
c.34A>G (p.Met12Val)
n.590A>G
n.803A>G
n.587A>G
n.446A>G
c.454A>G (p.Met152Val)
c.4810-110424A>G (n.4810-110424A>G)
n.571A>G
n.946A>G
n.544A>G
 dbSNP
17g.46938632A>TCA400018971GOSR2,LRRC37A2c.511A>T (p.Met171Leu)
c.316A>T (p.Met106Leu)
c.505A>T (p.Met169Leu)
c.567A>T (p.Thr189=)
c.457A>T (p.Met153Leu)
c.154A>T (p.Met52Leu)
c.264A>T
c.367A>T (p.Met123Leu)
c.370A>T (p.Met124Leu)
c.508A>T (p.Met170Leu)
c.1A>T (p.Met1Leu)
n.403A>T
c.382A>T (p.Met128Leu)
c.177A>T (p.Thr59=)
c.450A>T
c.28A>T (p.Met10Leu)
c.311A>T (n.311A>T)
c.504A>T
c.34A>T (p.Met12Leu)
n.590A>T
n.803A>T
n.587A>T
n.446A>T
c.454A>T (p.Met152Leu)
c.4810-110424A>T (n.4810-110424A>T)
n.571A>T
n.946A>T
n.544A>T
 gnomAD v4
17g.46938633T>ACA400018974GOSR2,LRRC37A2c.512T>A (p.Met171Lys)
c.317T>A (p.Met106Lys)
c.506T>A (p.Met169Lys)
c.568T>A (p.Cys190Ser)
c.458T>A (p.Met153Lys)
c.155T>A (p.Met52Lys)
c.265T>A
c.368T>A (p.Met123Lys)
c.371T>A (p.Met124Lys)
c.509T>A (p.Met170Lys)
c.2T>A (p.Met1Lys)
n.404T>A
c.383T>A (p.Met128Lys)
c.178T>A (p.Cys60Ser)
c.451T>A
c.29T>A (p.Met10Lys)
c.312T>A (n.312T>A)
c.505T>A
c.35T>A (p.Met12Lys)
n.591T>A
n.804T>A
n.588T>A
n.447T>A
c.455T>A (p.Met152Lys)
c.4810-110423T>A (n.4810-110423T>A)
n.572T>A
n.947T>A
n.545T>A
17g.46938633T>CCA400018976GOSR2,LRRC37A2c.512T>C (p.Met171Thr)
c.317T>C (p.Met106Thr)
c.506T>C (p.Met169Thr)
c.568T>C (p.Cys190Arg)
c.458T>C (p.Met153Thr)
c.155T>C (p.Met52Thr)
c.265T>C
c.368T>C (p.Met123Thr)
c.371T>C (p.Met124Thr)
c.509T>C (p.Met170Thr)
c.2T>C (p.Met1Thr)
n.404T>C
c.383T>C (p.Met128Thr)
c.178T>C (p.Cys60Arg)
c.451T>C
c.29T>C (p.Met10Thr)
c.312T>C (n.312T>C)
c.505T>C
c.35T>C (p.Met12Thr)
n.591T>C
n.804T>C
n.588T>C
n.447T>C
c.455T>C (p.Met152Thr)
c.4810-110423T>C (n.4810-110423T>C)
n.572T>C
n.947T>C
n.545T>C
17g.46938633T>GCA400018977GOSR2,LRRC37A2c.512T>G (p.Met171Arg)
c.317T>G (p.Met106Arg)
c.506T>G (p.Met169Arg)
c.568T>G (p.Cys190Gly)
c.458T>G (p.Met153Arg)
c.155T>G (p.Met52Arg)
c.265T>G
c.368T>G (p.Met123Arg)
c.371T>G (p.Met124Arg)
c.509T>G (p.Met170Arg)
c.2T>G (p.Met1Arg)
n.404T>G
c.383T>G (p.Met128Arg)
c.178T>G (p.Cys60Gly)
c.451T>G
c.29T>G (p.Met10Arg)
c.312T>G (n.312T>G)
c.505T>G
c.35T>G (p.Met12Arg)
n.591T>G
n.804T>G
n.588T>G
n.447T>G
c.455T>G (p.Met152Arg)
c.4810-110423T>G (n.4810-110423T>G)
n.572T>G
n.947T>G
n.545T>G
17g.46938634G>ACA400018978GOSR2,LRRC37A2c.513G>A (p.Met171Ile)
c.318G>A (p.Met106Ile)
c.507G>A (p.Met169Ile)
c.569G>A (p.Cys190Tyr)
c.459G>A (p.Met153Ile)
c.156G>A (p.Met52Ile)
c.266G>A
c.369G>A (p.Met123Ile)
c.372G>A (p.Met124Ile)
c.510G>A (p.Met170Ile)
c.3G>A (p.Met1Ile)
n.405G>A
c.384G>A (p.Met128Ile)
c.179G>A (p.Cys60Tyr)
c.452G>A
c.30G>A (p.Met10Ile)
c.313G>A (n.313G>A)
c.506G>A
c.36G>A (p.Met12Ile)
n.592G>A
n.805G>A
n.589G>A
n.448G>A
c.456G>A (p.Met152Ile)
c.4810-110422G>A (n.4810-110422G>A)
n.573G>A
n.948G>A
n.546G>A
17g.46938634G>CCA400018979GOSR2,LRRC37A2c.513G>C (p.Met171Ile)
c.318G>C (p.Met106Ile)
c.507G>C (p.Met169Ile)
c.569G>C (p.Cys190Ser)
c.459G>C (p.Met153Ile)
c.156G>C (p.Met52Ile)
c.266G>C
c.369G>C (p.Met123Ile)
c.372G>C (p.Met124Ile)
c.510G>C (p.Met170Ile)
c.3G>C (p.Met1Ile)
n.405G>C
c.384G>C (p.Met128Ile)
c.179G>C (p.Cys60Ser)
c.452G>C
c.30G>C (p.Met10Ile)
c.313G>C (n.313G>C)
c.506G>C
c.36G>C (p.Met12Ile)
n.592G>C
n.805G>C
n.589G>C
n.448G>C
c.456G>C (p.Met152Ile)
c.4810-110422G>C (n.4810-110422G>C)
n.573G>C
n.948G>C
n.546G>C
17g.46938634G>TCA400018980GOSR2,LRRC37A2c.513G>T (p.Met171Ile)
c.318G>T (p.Met106Ile)
c.507G>T (p.Met169Ile)
c.569G>T (p.Cys190Phe)
c.459G>T (p.Met153Ile)
c.156G>T (p.Met52Ile)
c.266G>T
c.369G>T (p.Met123Ile)
c.372G>T (p.Met124Ile)
c.510G>T (p.Met170Ile)
c.3G>T (p.Met1Ile)
n.405G>T
c.384G>T (p.Met128Ile)
c.179G>T (p.Cys60Phe)
c.452G>T
c.30G>T (p.Met10Ile)
c.313G>T (n.313G>T)
c.506G>T
c.36G>T (p.Met12Ile)
n.592G>T
n.805G>T
n.589G>T
n.448G>T
c.456G>T (p.Met152Ile)
c.4810-110422G>T (n.4810-110422G>T)
n.573G>T
n.948G>T
n.546G>T
17g.46938635C>ACA400018981GOSR2,LRRC37A2c.514C>A (p.Leu172Met)
c.319C>A (p.Leu107Met)
c.508C>A (p.Leu170Met)
c.570C>A (p.Cys190Ter)
c.460C>A (p.Leu154Met)
c.157C>A (p.Leu53Met)
c.267C>A
c.370C>A (p.Leu124Met)
c.373C>A (p.Leu125Met)
c.511C>A (p.Leu171Met)
c.4C>A (p.Leu2Met)
n.406C>A
c.385C>A (p.Leu129Met)
c.180C>A (p.Cys60Ter)
c.453C>A
c.31C>A (p.Leu11Met)
c.314C>A (n.314C>A)
c.507C>A
c.37C>A (p.Leu13Met)
n.593C>A
n.806C>A
n.590C>A
n.449C>A
c.457C>A (p.Leu153Met)
c.4810-110421C>A (n.4810-110421C>A)
n.574C>A
n.949C>A
n.547C>A
17g.46938635C=CA2262452846GOSR2,LRRC37A2c.514C= (p.Leu172=)
c.319C= (p.Leu107=)
c.508C= (p.Leu170=)
c.570C= (p.Cys190=)
c.460C= (p.Leu154=)
c.157C= (p.Leu53=)
c.267C=
c.370C= (p.Leu124=)
c.373C= (p.Leu125=)
c.511C= (p.Leu171=)
c.4C= (p.Leu2=)
n.406C=
c.385C= (p.Leu129=)
c.180C= (p.Cys60=)
c.453C=
c.31C= (p.Leu11=)
c.314C= (n.314C=)
c.507C=
c.37C= (p.Leu13=)
n.593C=
n.806C=
n.590C=
n.449C=
c.457C= (p.Leu153=)
c.4810-110421C= (n.4810-110421C=)
n.574C=
n.949C=
n.547C=
17g.46938635C>GCA400018982GOSR2,LRRC37A2c.514C>G (p.Leu172Val)
c.319C>G (p.Leu107Val)
c.508C>G (p.Leu170Val)
c.570C>G (p.Cys190Trp)
c.460C>G (p.Leu154Val)
c.157C>G (p.Leu53Val)
c.267C>G
c.370C>G (p.Leu124Val)
c.373C>G (p.Leu125Val)
c.511C>G (p.Leu171Val)
c.4C>G (p.Leu2Val)
n.406C>G
c.385C>G (p.Leu129Val)
c.180C>G (p.Cys60Trp)
c.453C>G
c.31C>G (p.Leu11Val)
c.314C>G (n.314C>G)
c.507C>G
c.37C>G (p.Leu13Val)
n.593C>G
n.806C>G
n.590C>G
n.449C>G
c.457C>G (p.Leu153Val)
c.4810-110421C>G (n.4810-110421C>G)
n.574C>G
n.949C>G
n.547C>G
17g.46938635C>TCA8621347GOSR2,LRRC37A2c.514C>T (p.Leu172=)
c.319C>T (p.Leu107=)
c.508C>T (p.Leu170=)
c.570C>T (p.Cys190=)
c.460C>T (p.Leu154=)
c.157C>T (p.Leu53=)
c.267C>T
c.370C>T (p.Leu124=)
c.373C>T (p.Leu125=)
c.511C>T (p.Leu171=)
c.4C>T (p.Leu2=)
n.406C>T
c.385C>T (p.Leu129=)
c.180C>T (p.Cys60=)
c.453C>T
c.31C>T (p.Leu11=)
c.314C>T (n.314C>T)
c.507C>T
c.37C>T (p.Leu13=)
n.593C>T
n.806C>T
n.590C>T
n.449C>T
c.457C>T (p.Leu153=)
c.4810-110421C>T (n.4810-110421C>T)
n.574C>T
n.949C>T
n.547C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46938636T>ACA400018984GOSR2,LRRC37A2c.515T>A (p.Leu172Gln)
c.320T>A (p.Leu107Gln)
c.509T>A (p.Leu170Gln)
c.571T>A (p.Trp191Arg)
c.461T>A (p.Leu154Gln)
c.158T>A (p.Leu53Gln)
c.268T>A
c.371T>A (p.Leu124Gln)
c.374T>A (p.Leu125Gln)
c.512T>A (p.Leu171Gln)
c.5T>A (p.Leu2Gln)
n.407T>A
c.386T>A (p.Leu129Gln)
c.181T>A (p.Trp61Arg)
c.454T>A
c.32T>A (p.Leu11Gln)
c.315T>A (n.315T>A)
c.508T>A
c.38T>A (p.Leu13Gln)
n.594T>A
n.807T>A
n.591T>A
n.450T>A
c.458T>A (p.Leu153Gln)
c.4810-110420T>A (n.4810-110420T>A)
n.575T>A
n.950T>A
n.548T>A
17g.46938636T>CCA400018985GOSR2,LRRC37A2c.515T>C (p.Leu172Pro)
c.320T>C (p.Leu107Pro)
c.509T>C (p.Leu170Pro)
c.571T>C (p.Trp191Arg)
c.461T>C (p.Leu154Pro)
c.158T>C (p.Leu53Pro)
c.268T>C
c.371T>C (p.Leu124Pro)
c.374T>C (p.Leu125Pro)
c.512T>C (p.Leu171Pro)
c.5T>C (p.Leu2Pro)
n.407T>C
c.386T>C (p.Leu129Pro)
c.181T>C (p.Trp61Arg)
c.454T>C
c.32T>C (p.Leu11Pro)
c.315T>C (n.315T>C)
c.508T>C
c.38T>C (p.Leu13Pro)
n.594T>C
n.807T>C
n.591T>C
n.450T>C
c.458T>C (p.Leu153Pro)
c.4810-110420T>C (n.4810-110420T>C)
n.575T>C
n.950T>C
n.548T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46938636T>GCA400018986GOSR2,LRRC37A2c.515T>G (p.Leu172Arg)
c.320T>G (p.Leu107Arg)
c.509T>G (p.Leu170Arg)
c.571T>G (p.Trp191Gly)
c.461T>G (p.Leu154Arg)
c.158T>G (p.Leu53Arg)
c.268T>G
c.371T>G (p.Leu124Arg)
c.374T>G (p.Leu125Arg)
c.512T>G (p.Leu171Arg)
c.5T>G (p.Leu2Arg)
n.407T>G
c.386T>G (p.Leu129Arg)
c.181T>G (p.Trp61Gly)
c.454T>G
c.32T>G (p.Leu11Arg)
c.315T>G (n.315T>G)
c.508T>G
c.38T>G (p.Leu13Arg)
n.594T>G
n.807T>G
n.591T>G
n.450T>G
c.458T>G (p.Leu153Arg)
c.4810-110420T>G (n.4810-110420T>G)
n.575T>G
n.950T>G
n.548T>G
17g.46938636T=CA2262452847GOSR2,LRRC37A2c.515T= (p.Leu172=)
c.320T= (p.Leu107=)
c.509T= (p.Leu170=)
c.571T= (p.Trp191=)
c.461T= (p.Leu154=)
c.158T= (p.Leu53=)
c.268T=
c.371T= (p.Leu124=)
c.374T= (p.Leu125=)
c.512T= (p.Leu171=)
c.5T= (p.Leu2=)
n.407T=
c.386T= (p.Leu129=)
c.181T= (p.Trp61=)
c.454T=
c.32T= (p.Leu11=)
c.315T= (n.315T=)
c.508T=
c.38T= (p.Leu13=)
n.594T=
n.807T=
n.591T=
n.450T=
c.458T= (p.Leu153=)
c.4810-110420T= (n.4810-110420T=)
n.575T=
n.950T=
n.548T=
17g.46938637G>ACA500414560GOSR2,LRRC37A2c.516G>A (p.Leu172=)
c.321G>A (p.Leu107=)
c.510G>A (p.Leu170=)
c.572G>A (p.Trp191Ter)
c.462G>A (p.Leu154=)
c.159G>A (p.Leu53=)
c.269G>A
c.372G>A (p.Leu124=)
c.375G>A (p.Leu125=)
c.513G>A (p.Leu171=)
c.6G>A (p.Leu2=)
n.408G>A
c.387G>A (p.Leu129=)
c.182G>A (p.Trp61Ter)
c.455G>A
c.33G>A (p.Leu11=)
c.316G>A (n.316G>A)
c.509G>A
c.39G>A (p.Leu13=)
n.595G>A
n.808G>A
n.592G>A
n.451G>A
c.459G>A (p.Leu153=)
c.4810-110419G>A (n.4810-110419G>A)
n.576G>A
n.951G>A
n.549G>A
17g.46938637G>CCA500414558GOSR2,LRRC37A2c.516G>C (p.Leu172=)
c.321G>C (p.Leu107=)
c.510G>C (p.Leu170=)
c.572G>C (p.Trp191Ser)
c.462G>C (p.Leu154=)
c.159G>C (p.Leu53=)
c.269G>C
c.372G>C (p.Leu124=)
c.375G>C (p.Leu125=)
c.513G>C (p.Leu171=)
c.6G>C (p.Leu2=)
n.408G>C
c.387G>C (p.Leu129=)
c.182G>C (p.Trp61Ser)
c.455G>C
c.33G>C (p.Leu11=)
c.316G>C (n.316G>C)
c.509G>C
c.39G>C (p.Leu13=)
n.595G>C
n.808G>C
n.592G>C
n.451G>C
c.459G>C (p.Leu153=)
c.4810-110419G>C (n.4810-110419G>C)
n.576G>C
n.951G>C
n.549G>C
17g.46938637G>TCA500414556GOSR2,LRRC37A2c.516G>T (p.Leu172=)
c.321G>T (p.Leu107=)
c.510G>T (p.Leu170=)
c.572G>T (p.Trp191Leu)
c.462G>T (p.Leu154=)
c.159G>T (p.Leu53=)
c.269G>T
c.372G>T (p.Leu124=)
c.375G>T (p.Leu125=)
c.513G>T (p.Leu171=)
c.6G>T (p.Leu2=)
n.408G>T
c.387G>T (p.Leu129=)
c.182G>T (p.Trp61Leu)
c.455G>T
c.33G>T (p.Leu11=)
c.316G>T (n.316G>T)
c.509G>T
c.39G>T (p.Leu13=)
n.595G>T
n.808G>T
n.592G>T
n.451G>T
c.459G>T (p.Leu153=)
c.4810-110419G>T (n.4810-110419G>T)
n.576G>T
n.951G>T
n.549G>T
17g.46938639_46938661delCA2809675780GOSR2,LRRC37A2c.518_540del (p.Gly173AlafsTer?)
c.323_345del (p.Gly108AlafsTer?)
c.512_534del (p.Gly171AlafsTer?)
c.574_*5del (n.[c.574_*5del;Ala192LeufsTer?])
c.518_540del (p.Gly173AlafsTer27)
c.464_486del (p.Gly155AlafsTer?)
c.161_183del (p.Gly54AlafsTer?)
c.271_293del
c.374_396del (p.Gly125AlafsTer?)
c.377_399del (p.Gly126AlafsTer23)
c.515_537del (p.Gly172AlafsTer?)
c.8_30del (p.Gly3AlafsTer?)
n.410_432del
c.377_399del (p.Gly126AlafsTer17)
c.518_540del (p.Gly173AlafsTer28)
c.464_486del (p.Gly155AlafsTer17)
c.389_411del (p.Gly130AlafsTer25)
c.377_399del (p.Gly126AlafsTer28)
c.518_540del (p.Gly173AlafsTer17)
c.377_399del (p.Gly126AlafsTer?)
c.184_*5del (n.[c.184_*5del;Ala62LeufsTer?])
c.457_479del
c.35_57del (p.Gly12AlafsTer27)
c.318_340del (n.318_340del)
c.511_533del
c.41_63del (p.Gly14AlafsTer?)
c.518_540del (p.Gly173AlafsTer23)
c.518_540del (p.Gly173AlafsTer25)
n.597_619del
n.810_832del
n.594_616del
n.453_475del
c.461_483del (p.Gly154AlafsTer?)
c.4810-110417_4810-110395del (n.4810-110417_4810-110395del)
n.578_600del
n.953_975del
n.551_573del
17g.46938638G>ACA400018988GOSR2,LRRC37A2c.517G>A (p.Gly173Ser)
c.322G>A (p.Gly108Ser)
c.511G>A (p.Gly171Ser)
c.573G>A (p.Trp191Ter)
c.463G>A (p.Gly155Ser)
c.160G>A (p.Gly54Ser)
c.270G>A
c.373G>A (p.Gly125Ser)
c.376G>A (p.Gly126Ser)
c.514G>A (p.Gly172Ser)
c.7G>A (p.Gly3Ser)
n.409G>A
c.388G>A (p.Gly130Ser)
c.183G>A (p.Trp61Ter)
c.456G>A
c.34G>A (p.Gly12Ser)
c.317G>A (n.317G>A)
c.510G>A
c.40G>A (p.Gly14Ser)
n.596G>A
n.809G>A
n.593G>A
n.452G>A
c.460G>A (p.Gly154Ser)
c.4810-110418G>A (n.4810-110418G>A)
n.577G>A
n.952G>A
n.550G>A
 gnomAD v4
17g.46938638G>CCA400018987GOSR2,LRRC37A2c.517G>C (p.Gly173Arg)
c.322G>C (p.Gly108Arg)
c.511G>C (p.Gly171Arg)
c.573G>C (p.Trp191Cys)
c.463G>C (p.Gly155Arg)
c.160G>C (p.Gly54Arg)
c.270G>C
c.373G>C (p.Gly125Arg)
c.376G>C (p.Gly126Arg)
c.514G>C (p.Gly172Arg)
c.7G>C (p.Gly3Arg)
n.409G>C
c.388G>C (p.Gly130Arg)
c.183G>C (p.Trp61Cys)
c.456G>C
c.34G>C (p.Gly12Arg)
c.317G>C (n.317G>C)
c.510G>C
c.40G>C (p.Gly14Arg)
n.596G>C
n.809G>C
n.593G>C
n.452G>C
c.460G>C (p.Gly154Arg)
c.4810-110418G>C (n.4810-110418G>C)
n.577G>C
n.952G>C
n.550G>C
17g.46938638G=CA2262452848GOSR2,LRRC37A2c.517G= (p.Gly173=)
c.322G= (p.Gly108=)
c.511G= (p.Gly171=)
c.573G= (p.Trp191=)
c.463G= (p.Gly155=)
c.160G= (p.Gly54=)
c.270G=
c.373G= (p.Gly125=)
c.376G= (p.Gly126=)
c.514G= (p.Gly172=)
c.7G= (p.Gly3=)
n.409G=
c.388G= (p.Gly130=)
c.183G= (p.Trp61=)
c.456G=
c.34G= (p.Gly12=)
c.317G= (n.317G=)
c.510G=
c.40G= (p.Gly14=)
n.596G=
n.809G=
n.593G=
n.452G=
c.460G= (p.Gly154=)
c.4810-110418G= (n.4810-110418G=)
n.577G=
n.952G=
n.550G=
17g.46938638G>TCA291204229GOSR2,LRRC37A2c.517G>T (p.Gly173Cys)
c.322G>T (p.Gly108Cys)
c.511G>T (p.Gly171Cys)
c.573G>T (p.Trp191Cys)
c.463G>T (p.Gly155Cys)
c.160G>T (p.Gly54Cys)
c.270G>T
c.373G>T (p.Gly125Cys)
c.376G>T (p.Gly126Cys)
c.514G>T (p.Gly172Cys)
c.7G>T (p.Gly3Cys)
n.409G>T
c.388G>T (p.Gly130Cys)
c.183G>T (p.Trp61Cys)
c.456G>T
c.34G>T (p.Gly12Cys)
c.317G>T (n.317G>T)
c.510G>T
c.40G>T (p.Gly14Cys)
n.596G>T
n.809G>T
n.593G>T
n.452G>T
c.460G>T (p.Gly154Cys)
c.4810-110418G>T (n.4810-110418G>T)
n.577G>T
n.952G>T
n.550G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.46938639G>ACA400018989GOSR2,LRRC37A2c.518G>A (p.Gly173Asp)
c.323G>A (p.Gly108Asp)
c.512G>A (p.Gly171Asp)
c.574G>A (p.Ala192Thr)
c.464G>A (p.Gly155Asp)
c.161G>A (p.Gly54Asp)
c.271G>A
c.374G>A (p.Gly125Asp)
c.377G>A (p.Gly126Asp)
c.515G>A (p.Gly172Asp)
c.8G>A (p.Gly3Asp)
n.410G>A
c.389G>A (p.Gly130Asp)
c.184G>A (p.Ala62Thr)
c.457G>A
c.35G>A (p.Gly12Asp)
c.318G>A (n.318G>A)
c.511G>A
c.41G>A (p.Gly14Asp)
n.597G>A
n.810G>A
n.594G>A
n.453G>A
c.461G>A (p.Gly154Asp)
c.4810-110417G>A (n.4810-110417G>A)
n.578G>A
n.953G>A
n.551G>A
 dbSNP gnomAD v3 gnomAD v4
17g.46938639G>CCA400018990GOSR2,LRRC37A2c.518G>C (p.Gly173Ala)
c.323G>C (p.Gly108Ala)
c.512G>C (p.Gly171Ala)
c.574G>C (p.Ala192Pro)
c.464G>C (p.Gly155Ala)
c.161G>C (p.Gly54Ala)
c.271G>C
c.374G>C (p.Gly125Ala)
c.377G>C (p.Gly126Ala)
c.515G>C (p.Gly172Ala)
c.8G>C (p.Gly3Ala)
n.410G>C
c.389G>C (p.Gly130Ala)
c.184G>C (p.Ala62Pro)
c.457G>C
c.35G>C (p.Gly12Ala)
c.318G>C (n.318G>C)
c.511G>C
c.41G>C (p.Gly14Ala)
n.597G>C
n.810G>C
n.594G>C
n.453G>C
c.461G>C (p.Gly154Ala)
c.4810-110417G>C (n.4810-110417G>C)
n.578G>C
n.953G>C
n.551G>C
17g.46938639G=CA2262452849GOSR2,LRRC37A2c.518G= (p.Gly173=)
c.323G= (p.Gly108=)
c.512G= (p.Gly171=)
c.574G= (p.Ala192=)
c.464G= (p.Gly155=)
c.161G= (p.Gly54=)
c.271G=
c.374G= (p.Gly125=)
c.377G= (p.Gly126=)
c.515G= (p.Gly172=)
c.8G= (p.Gly3=)
n.410G=
c.389G= (p.Gly130=)
c.184G= (p.Ala62=)
c.457G=
c.35G= (p.Gly12=)
c.318G= (n.318G=)
c.511G=
c.41G= (p.Gly14=)
n.597G=
n.810G=
n.594G=
n.453G=
c.461G= (p.Gly154=)
c.4810-110417G= (n.4810-110417G=)
n.578G=
n.953G=
n.551G=
17g.46938639G>TCA400018991GOSR2,LRRC37A2c.518G>T (p.Gly173Val)
c.323G>T (p.Gly108Val)
c.512G>T (p.Gly171Val)
c.574G>T (p.Ala192Ser)
c.464G>T (p.Gly155Val)
c.161G>T (p.Gly54Val)
c.271G>T
c.374G>T (p.Gly125Val)
c.377G>T (p.Gly126Val)
c.515G>T (p.Gly172Val)
c.8G>T (p.Gly3Val)
n.410G>T
c.389G>T (p.Gly130Val)
c.184G>T (p.Ala62Ser)
c.457G>T
c.35G>T (p.Gly12Val)
c.318G>T (n.318G>T)
c.511G>T
c.41G>T (p.Gly14Val)
n.597G>T
n.810G>T
n.594G>T
n.453G>T
c.461G>T (p.Gly154Val)
c.4810-110417G>T (n.4810-110417G>T)
n.578G>T
n.953G>T
n.551G>T
 COSMIC COSMIC COSMIC
17g.46938640C>ACA500414569GOSR2,LRRC37A2c.519C>A (p.Gly173=)
c.324C>A (p.Gly108=)
c.513C>A (p.Gly171=)
c.575C>A (p.Ala192Asp)
c.465C>A (p.Gly155=)
c.162C>A (p.Gly54=)
c.272C>A
c.375C>A (p.Gly125=)
c.378C>A (p.Gly126=)
c.516C>A (p.Gly172=)
c.9C>A (p.Gly3=)
n.411C>A
c.390C>A (p.Gly130=)
c.185C>A (p.Ala62Asp)
c.458C>A
c.36C>A (p.Gly12=)
c.319C>A (n.319C>A)
c.512C>A
c.42C>A (p.Gly14=)
n.598C>A
n.811C>A
n.595C>A
n.454C>A
c.462C>A (p.Gly154=)
c.4810-110416C>A (n.4810-110416C>A)
n.579C>A
n.954C>A
n.552C>A
17g.46938640C=CA2262452850GOSR2,LRRC37A2c.519C= (p.Gly173=)
c.324C= (p.Gly108=)
c.513C= (p.Gly171=)
c.575C= (p.Ala192=)
c.465C= (p.Gly155=)
c.162C= (p.Gly54=)
c.272C=
c.375C= (p.Gly125=)
c.378C= (p.Gly126=)
c.516C= (p.Gly172=)
c.9C= (p.Gly3=)
n.411C=
c.390C= (p.Gly130=)
c.185C= (p.Ala62=)
c.458C=
c.36C= (p.Gly12=)
c.319C= (n.319C=)
c.512C=
c.42C= (p.Gly14=)
n.598C=
n.811C=
n.595C=
n.454C=
c.462C= (p.Gly154=)
c.4810-110416C= (n.4810-110416C=)
n.579C=
n.954C=
n.552C=
17g.46938640C>GCA500414571GOSR2,LRRC37A2c.519C>G (p.Gly173=)
c.324C>G (p.Gly108=)
c.513C>G (p.Gly171=)
c.575C>G (p.Ala192Gly)
c.465C>G (p.Gly155=)
c.162C>G (p.Gly54=)
c.272C>G
c.375C>G (p.Gly125=)
c.378C>G (p.Gly126=)
c.516C>G (p.Gly172=)
c.9C>G (p.Gly3=)
n.411C>G
c.390C>G (p.Gly130=)
c.185C>G (p.Ala62Gly)
c.458C>G
c.36C>G (p.Gly12=)
c.319C>G (n.319C>G)
c.512C>G
c.42C>G (p.Gly14=)
n.598C>G
n.811C>G
n.595C>G
n.454C>G
c.462C>G (p.Gly154=)
c.4810-110416C>G (n.4810-110416C>G)
n.579C>G
n.954C>G
n.552C>G
17g.46938640C>TCA8621348GOSR2,LRRC37A2c.519C>T (p.Gly173=)
c.324C>T (p.Gly108=)
c.513C>T (p.Gly171=)
c.575C>T (p.Ala192Val)
c.465C>T (p.Gly155=)
c.162C>T (p.Gly54=)
c.272C>T
c.375C>T (p.Gly125=)
c.378C>T (p.Gly126=)
c.516C>T (p.Gly172=)
c.9C>T (p.Gly3=)
n.411C>T
c.390C>T (p.Gly130=)
c.185C>T (p.Ala62Val)
c.458C>T
c.36C>T (p.Gly12=)
c.319C>T (n.319C>T)
c.512C>T
c.42C>T (p.Gly14=)
n.598C>T
n.811C>T
n.595C>T
n.454C>T
c.462C>T (p.Gly154=)
c.4810-110416C>T (n.4810-110416C>T)
n.579C>T
n.954C>T
n.552C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938641T>ACA400018992GOSR2,LRRC37A2c.520T>A (p.Leu174Met)
c.325T>A (p.Leu109Met)
c.514T>A (p.Leu172Met)
c.576T>A (p.Ala192=)
c.466T>A (p.Leu156Met)
c.163T>A (p.Leu55Met)
c.273T>A
c.376T>A (p.Leu126Met)
c.379T>A (p.Leu127Met)
c.517T>A (p.Leu173Met)
c.10T>A (p.Leu4Met)
n.412T>A
c.391T>A (p.Leu131Met)
c.186T>A (p.Ala62=)
c.459T>A
c.37T>A (p.Leu13Met)
c.320T>A (n.320T>A)
c.513T>A
c.43T>A (p.Leu15Met)
n.599T>A
n.812T>A
n.596T>A
n.455T>A
c.463T>A (p.Leu155Met)
c.4810-110415T>A (n.4810-110415T>A)
n.580T>A
n.955T>A
n.553T>A
17g.46938641T>CCA500414575GOSR2,LRRC37A2c.520T>C (p.Leu174=)
c.325T>C (p.Leu109=)
c.514T>C (p.Leu172=)
c.576T>C (p.Ala192=)
c.466T>C (p.Leu156=)
c.163T>C (p.Leu55=)
c.273T>C
c.376T>C (p.Leu126=)
c.379T>C (p.Leu127=)
c.517T>C (p.Leu173=)
c.10T>C (p.Leu4=)
n.412T>C
c.391T>C (p.Leu131=)
c.186T>C (p.Ala62=)
c.459T>C
c.37T>C (p.Leu13=)
c.320T>C (n.320T>C)
c.513T>C
c.43T>C (p.Leu15=)
n.599T>C
n.812T>C
n.596T>C
n.455T>C
c.463T>C (p.Leu155=)
c.4810-110415T>C (n.4810-110415T>C)
n.580T>C
n.955T>C
n.553T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46938641T>GCA400018993GOSR2,LRRC37A2c.520T>G (p.Leu174Val)
c.325T>G (p.Leu109Val)
c.514T>G (p.Leu172Val)
c.576T>G (p.Ala192=)
c.466T>G (p.Leu156Val)
c.163T>G (p.Leu55Val)
c.273T>G
c.376T>G (p.Leu126Val)
c.379T>G (p.Leu127Val)
c.517T>G (p.Leu173Val)
c.10T>G (p.Leu4Val)
n.412T>G
c.391T>G (p.Leu131Val)
c.186T>G (p.Ala62=)
c.459T>G
c.37T>G (p.Leu13Val)
c.320T>G (n.320T>G)
c.513T>G
c.43T>G (p.Leu15Val)
n.599T>G
n.812T>G
n.596T>G
n.455T>G
c.463T>G (p.Leu155Val)
c.4810-110415T>G (n.4810-110415T>G)
n.580T>G
n.955T>G
n.553T>G
17g.46938641T=CA2262452851GOSR2,LRRC37A2c.520T= (p.Leu174=)
c.325T= (p.Leu109=)
c.514T= (p.Leu172=)
c.576T= (p.Ala192=)
c.466T= (p.Leu156=)
c.163T= (p.Leu55=)
c.273T=
c.376T= (p.Leu126=)
c.379T= (p.Leu127=)
c.517T= (p.Leu173=)
c.10T= (p.Leu4=)
n.412T=
c.391T= (p.Leu131=)
c.186T= (p.Ala62=)
c.459T=
c.37T= (p.Leu13=)
c.320T= (n.320T=)
c.513T=
c.43T= (p.Leu15=)
n.599T=
n.812T=
n.596T=
n.455T=
c.463T= (p.Leu155=)
c.4810-110415T= (n.4810-110415T=)
n.580T=
n.955T=
n.553T=
17g.46938642T>ACA400018994GOSR2,LRRC37A2c.521T>A (p.Leu174Ter)
c.326T>A (p.Leu109Ter)
c.515T>A (p.Leu172Ter)
c.577T>A (p.Cys193Ser)
c.467T>A (p.Leu156Ter)
c.164T>A (p.Leu55Ter)
c.274T>A
c.377T>A (p.Leu126Ter)
c.380T>A (p.Leu127Ter)
c.518T>A (p.Leu173Ter)
c.11T>A (p.Leu4Ter)
n.413T>A
c.392T>A (p.Leu131Ter)
c.187T>A (p.Cys63Ser)
c.460T>A
c.38T>A (p.Leu13Ter)
c.321T>A (n.321T>A)
c.514T>A
c.44T>A (p.Leu15Ter)
n.600T>A
n.813T>A
n.597T>A
n.456T>A
c.464T>A (p.Leu155Ter)
c.4810-110414T>A (n.4810-110414T>A)
n.581T>A
n.956T>A
n.554T>A
17g.46938642T>CCA400018995GOSR2,LRRC37A2c.521T>C (p.Leu174Ser)
c.326T>C (p.Leu109Ser)
c.515T>C (p.Leu172Ser)
c.577T>C (p.Cys193Arg)
c.467T>C (p.Leu156Ser)
c.164T>C (p.Leu55Ser)
c.274T>C
c.377T>C (p.Leu126Ser)
c.380T>C (p.Leu127Ser)
c.518T>C (p.Leu173Ser)
c.11T>C (p.Leu4Ser)
n.413T>C
c.392T>C (p.Leu131Ser)
c.187T>C (p.Cys63Arg)
c.460T>C
c.38T>C (p.Leu13Ser)
c.321T>C (n.321T>C)
c.514T>C
c.44T>C (p.Leu15Ser)
n.600T>C
n.813T>C
n.597T>C
n.456T>C
c.464T>C (p.Leu155Ser)
c.4810-110414T>C (n.4810-110414T>C)
n.581T>C
n.956T>C
n.554T>C
17g.46938642T>GCA400018996GOSR2,LRRC37A2c.521T>G (p.Leu174Trp)
c.326T>G (p.Leu109Trp)
c.515T>G (p.Leu172Trp)
c.577T>G (p.Cys193Gly)
c.467T>G (p.Leu156Trp)
c.164T>G (p.Leu55Trp)
c.274T>G
c.377T>G (p.Leu126Trp)
c.380T>G (p.Leu127Trp)
c.518T>G (p.Leu173Trp)
c.11T>G (p.Leu4Trp)
n.413T>G
c.392T>G (p.Leu131Trp)
c.187T>G (p.Cys63Gly)
c.460T>G
c.38T>G (p.Leu13Trp)
c.321T>G (n.321T>G)
c.514T>G
c.44T>G (p.Leu15Trp)
n.600T>G
n.813T>G
n.597T>G
n.456T>G
c.464T>G (p.Leu155Trp)
c.4810-110414T>G (n.4810-110414T>G)
n.581T>G
n.956T>G
n.554T>G
17g.46938643G>ACA500414583GOSR2,LRRC37A2c.522G>A (p.Leu174=)
c.327G>A (p.Leu109=)
c.516G>A (p.Leu172=)
c.578G>A (p.Cys193Tyr)
c.468G>A (p.Leu156=)
c.165G>A (p.Leu55=)
c.275G>A
c.378G>A (p.Leu126=)
c.381G>A (p.Leu127=)
c.519G>A (p.Leu173=)
c.12G>A (p.Leu4=)
n.414G>A
c.393G>A (p.Leu131=)
c.188G>A (p.Cys63Tyr)
c.461G>A
c.39G>A (p.Leu13=)
c.322G>A (n.322G>A)
c.515G>A
c.45G>A (p.Leu15=)
n.601G>A
n.814G>A
n.598G>A
n.457G>A
c.465G>A (p.Leu155=)
c.4810-110413G>A (n.4810-110413G>A)
n.582G>A
n.957G>A
n.555G>A
17g.46938643G>CCA400018997GOSR2,LRRC37A2c.522G>C (p.Leu174Phe)
c.327G>C (p.Leu109Phe)
c.516G>C (p.Leu172Phe)
c.578G>C (p.Cys193Ser)
c.468G>C (p.Leu156Phe)
c.165G>C (p.Leu55Phe)
c.275G>C
c.378G>C (p.Leu126Phe)
c.381G>C (p.Leu127Phe)
c.519G>C (p.Leu173Phe)
c.12G>C (p.Leu4Phe)
n.414G>C
c.393G>C (p.Leu131Phe)
c.188G>C (p.Cys63Ser)
c.461G>C
c.39G>C (p.Leu13Phe)
c.322G>C (n.322G>C)
c.515G>C
c.45G>C (p.Leu15Phe)
n.601G>C
n.814G>C
n.598G>C
n.457G>C
c.465G>C (p.Leu155Phe)
c.4810-110413G>C (n.4810-110413G>C)
n.582G>C
n.957G>C
n.555G>C
17g.46938643G>TCA400018998GOSR2,LRRC37A2c.522G>T (p.Leu174Phe)
c.327G>T (p.Leu109Phe)
c.516G>T (p.Leu172Phe)
c.578G>T (p.Cys193Phe)
c.468G>T (p.Leu156Phe)
c.165G>T (p.Leu55Phe)
c.275G>T
c.378G>T (p.Leu126Phe)
c.381G>T (p.Leu127Phe)
c.519G>T (p.Leu173Phe)
c.12G>T (p.Leu4Phe)
n.414G>T
c.393G>T (p.Leu131Phe)
c.188G>T (p.Cys63Phe)
c.461G>T
c.39G>T (p.Leu13Phe)
c.322G>T (n.322G>T)
c.515G>T
c.45G>T (p.Leu15Phe)
n.601G>T
n.814G>T
n.598G>T
n.457G>T
c.465G>T (p.Leu155Phe)
c.4810-110413G>T (n.4810-110413G>T)
n.582G>T
n.957G>T
n.555G>T
17g.46938644T>ACA400019001GOSR2,LRRC37A2c.523T>A (p.Ser175Thr)
c.328T>A (p.Ser110Thr)
c.517T>A (p.Ser173Thr)
c.579T>A (p.Cys193Ter)
c.469T>A (p.Ser157Thr)
c.166T>A (p.Ser56Thr)
c.276T>A
c.379T>A (p.Ser127Thr)
c.382T>A (p.Ser128Thr)
c.520T>A (p.Ser174Thr)
c.13T>A (p.Ser5Thr)
n.415T>A
c.394T>A (p.Ser132Thr)
c.189T>A (p.Cys63Ter)
c.462T>A
c.40T>A (p.Ser14Thr)
c.323T>A (n.323T>A)
c.516T>A
c.46T>A (p.Ser16Thr)
n.602T>A
n.815T>A
n.599T>A
n.458T>A
c.466T>A (p.Ser156Thr)
c.4810-110412T>A (n.4810-110412T>A)
n.583T>A
n.958T>A
n.556T>A
17g.46938644T>CCA400019000GOSR2,LRRC37A2c.523T>C (p.Ser175Pro)
c.328T>C (p.Ser110Pro)
c.517T>C (p.Ser173Pro)
c.579T>C (p.Cys193=)
c.469T>C (p.Ser157Pro)
c.166T>C (p.Ser56Pro)
c.276T>C
c.379T>C (p.Ser127Pro)
c.382T>C (p.Ser128Pro)
c.520T>C (p.Ser174Pro)
c.13T>C (p.Ser5Pro)
n.415T>C
c.394T>C (p.Ser132Pro)
c.189T>C (p.Cys63=)
c.462T>C
c.40T>C (p.Ser14Pro)
c.323T>C (n.323T>C)
c.516T>C
c.46T>C (p.Ser16Pro)
n.602T>C
n.815T>C
n.599T>C
n.458T>C
c.466T>C (p.Ser156Pro)
c.4810-110412T>C (n.4810-110412T>C)
n.583T>C
n.958T>C
n.556T>C
 gnomAD v4
17g.46938644T>GCA400018999GOSR2,LRRC37A2c.523T>G (p.Ser175Ala)
c.328T>G (p.Ser110Ala)
c.517T>G (p.Ser173Ala)
c.579T>G (p.Cys193Trp)
c.469T>G (p.Ser157Ala)
c.166T>G (p.Ser56Ala)
c.276T>G
c.379T>G (p.Ser127Ala)
c.382T>G (p.Ser128Ala)
c.520T>G (p.Ser174Ala)
c.13T>G (p.Ser5Ala)
n.415T>G
c.394T>G (p.Ser132Ala)
c.189T>G (p.Cys63Trp)
c.462T>G
c.40T>G (p.Ser14Ala)
c.323T>G (n.323T>G)
c.516T>G
c.46T>G (p.Ser16Ala)
n.602T>G
n.815T>G
n.599T>G
n.458T>G
c.466T>G (p.Ser156Ala)
c.4810-110412T>G (n.4810-110412T>G)
n.583T>G
n.958T>G
n.556T>G
17g.46938645C>ACA400019004GOSR2,LRRC37A2c.524C>A (p.Ser175Tyr)
c.329C>A (p.Ser110Tyr)
c.518C>A (p.Ser173Tyr)
c.580C>A (p.Pro194Thr)
c.470C>A (p.Ser157Tyr)
c.167C>A (p.Ser56Tyr)
c.277C>A
c.380C>A (p.Ser127Tyr)
c.383C>A (p.Ser128Tyr)
c.521C>A (p.Ser174Tyr)
c.14C>A (p.Ser5Tyr)
n.416C>A
c.395C>A (p.Ser132Tyr)
c.190C>A (p.Pro64Thr)
c.463C>A
c.41C>A (p.Ser14Tyr)
c.324C>A (n.324C>A)
c.517C>A
c.47C>A (p.Ser16Tyr)
n.603C>A
n.816C>A
n.600C>A
n.459C>A
c.467C>A (p.Ser156Tyr)
c.4810-110411C>A (n.4810-110411C>A)
n.584C>A
n.959C>A
n.557C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46938645C=CA2262452852GOSR2,LRRC37A2c.524C= (p.Ser175=)
c.329C= (p.Ser110=)
c.518C= (p.Ser173=)
c.580C= (p.Pro194=)
c.470C= (p.Ser157=)
c.167C= (p.Ser56=)
c.277C=
c.380C= (p.Ser127=)
c.383C= (p.Ser128=)
c.521C= (p.Ser174=)
c.14C= (p.Ser5=)
n.416C=
c.395C= (p.Ser132=)
c.190C= (p.Pro64=)
c.463C=
c.41C= (p.Ser14=)
c.324C= (n.324C=)
c.517C=
c.47C= (p.Ser16=)
n.603C=
n.816C=
n.600C=
n.459C=
c.467C= (p.Ser156=)
c.4810-110411C= (n.4810-110411C=)
n.584C=
n.959C=
n.557C=
17g.46938645C>GCA400019002GOSR2,LRRC37A2c.524C>G (p.Ser175Cys)
c.329C>G (p.Ser110Cys)
c.518C>G (p.Ser173Cys)
c.580C>G (p.Pro194Ala)
c.470C>G (p.Ser157Cys)
c.167C>G (p.Ser56Cys)
c.277C>G
c.380C>G (p.Ser127Cys)
c.383C>G (p.Ser128Cys)
c.521C>G (p.Ser174Cys)
c.14C>G (p.Ser5Cys)
n.416C>G
c.395C>G (p.Ser132Cys)
c.190C>G (p.Pro64Ala)
c.463C>G
c.41C>G (p.Ser14Cys)
c.324C>G (n.324C>G)
c.517C>G
c.47C>G (p.Ser16Cys)
n.603C>G
n.816C>G
n.600C>G
n.459C>G
c.467C>G (p.Ser156Cys)
c.4810-110411C>G (n.4810-110411C>G)
n.584C>G
n.959C>G
n.557C>G
17g.46938645C>TCA400019003GOSR2,LRRC37A2c.524C>T (p.Ser175Phe)
c.329C>T (p.Ser110Phe)
c.518C>T (p.Ser173Phe)
c.580C>T (p.Pro194Ser)
c.470C>T (p.Ser157Phe)
c.167C>T (p.Ser56Phe)
c.277C>T
c.380C>T (p.Ser127Phe)
c.383C>T (p.Ser128Phe)
c.521C>T (p.Ser174Phe)
c.14C>T (p.Ser5Phe)
n.416C>T
c.395C>T (p.Ser132Phe)
c.190C>T (p.Pro64Ser)
c.463C>T
c.41C>T (p.Ser14Phe)
c.324C>T (n.324C>T)
c.517C>T
c.47C>T (p.Ser16Phe)
n.603C>T
n.816C>T
n.600C>T
n.459C>T
c.467C>T (p.Ser156Phe)
c.4810-110411C>T (n.4810-110411C>T)
n.584C>T
n.959C>T
n.557C>T
 ClinVar dbSNP gnomAD v4
17g.46938646C>ACA500414593GOSR2,LRRC37A2c.525C>A (p.Ser175=)
c.330C>A (p.Ser110=)
c.519C>A (p.Ser173=)
c.581C>A (p.Pro194Gln)
c.471C>A (p.Ser157=)
c.168C>A (p.Ser56=)
c.278C>A
c.381C>A (p.Ser127=)
c.384C>A (p.Ser128=)
c.522C>A (p.Ser174=)
c.15C>A (p.Ser5=)
n.417C>A
c.396C>A (p.Ser132=)
c.191C>A (p.Pro64Gln)
c.464C>A
c.42C>A (p.Ser14=)
c.325C>A (n.325C>A)
c.518C>A
c.48C>A (p.Ser16=)
n.604C>A
n.817C>A
n.601C>A
n.460C>A
c.468C>A (p.Ser156=)
c.4810-110410C>A (n.4810-110410C>A)
n.585C>A
n.960C>A
n.558C>A
17g.46938646C>GCA500414594GOSR2,LRRC37A2c.525C>G (p.Ser175=)
c.330C>G (p.Ser110=)
c.519C>G (p.Ser173=)
c.581C>G (p.Pro194Arg)
c.471C>G (p.Ser157=)
c.168C>G (p.Ser56=)
c.278C>G
c.381C>G (p.Ser127=)
c.384C>G (p.Ser128=)
c.522C>G (p.Ser174=)
c.15C>G (p.Ser5=)
n.417C>G
c.396C>G (p.Ser132=)
c.191C>G (p.Pro64Arg)
c.464C>G
c.42C>G (p.Ser14=)
c.325C>G (n.325C>G)
c.518C>G
c.48C>G (p.Ser16=)
n.604C>G
n.817C>G
n.601C>G
n.460C>G
c.468C>G (p.Ser156=)
c.4810-110410C>G (n.4810-110410C>G)
n.585C>G
n.960C>G
n.558C>G
17g.46938646C>TCA500414597GOSR2,LRRC37A2c.525C>T (p.Ser175=)
c.330C>T (p.Ser110=)
c.519C>T (p.Ser173=)
c.581C>T (p.Pro194Leu)
c.471C>T (p.Ser157=)
c.168C>T (p.Ser56=)
c.278C>T
c.381C>T (p.Ser127=)
c.384C>T (p.Ser128=)
c.522C>T (p.Ser174=)
c.15C>T (p.Ser5=)
n.417C>T
c.396C>T (p.Ser132=)
c.191C>T (p.Pro64Leu)
c.464C>T
c.42C>T (p.Ser14=)
c.325C>T (n.325C>T)
c.518C>T
c.48C>T (p.Ser16=)
n.604C>T
n.817C>T
n.601C>T
n.460C>T
c.468C>T (p.Ser156=)
c.4810-110410C>T (n.4810-110410C>T)
n.585C>T
n.960C>T
n.558C>T
 ClinVar dbSNP gnomAD v4
17g.46938647A=CA2262452853GOSR2,LRRC37A2c.526A= (p.Asn176=)
c.331A= (p.Asn111=)
c.520A= (p.Asn174=)
c.582A= (p.Pro194=)
c.472A= (p.Asn158=)
c.169A= (p.Asn57=)
c.279A=
c.382A= (p.Asn128=)
c.385A= (p.Asn129=)
c.523A= (p.Asn175=)
c.16A= (p.Asn6=)
n.418A=
c.397A= (p.Asn133=)
c.192A= (p.Pro64=)
c.465A=
c.43A= (p.Asn15=)
c.326A= (n.326A=)
c.519A=
c.49A= (p.Asn17=)
n.605A=
n.818A=
n.602A=
n.461A=
c.469A= (p.Asn157=)
c.4810-110409A= (n.4810-110409A=)
n.586A=
n.961A=
n.559A=
17g.46938647A>CCA400019005GOSR2,LRRC37A2c.526A>C (p.Asn176His)
c.331A>C (p.Asn111His)
c.520A>C (p.Asn174His)
c.582A>C (p.Pro194=)
c.472A>C (p.Asn158His)
c.169A>C (p.Asn57His)
c.279A>C
c.382A>C (p.Asn128His)
c.385A>C (p.Asn129His)
c.523A>C (p.Asn175His)
c.16A>C (p.Asn6His)
n.418A>C
c.397A>C (p.Asn133His)
c.192A>C (p.Pro64=)
c.465A>C
c.43A>C (p.Asn15His)
c.326A>C (n.326A>C)
c.519A>C
c.49A>C (p.Asn17His)
n.605A>C
n.818A>C
n.602A>C
n.461A>C
c.469A>C (p.Asn157His)
c.4810-110409A>C (n.4810-110409A>C)
n.586A>C
n.961A>C
n.559A>C
17g.46938647A>GCA8621349GOSR2,LRRC37A2c.526A>G (p.Asn176Asp)
c.331A>G (p.Asn111Asp)
c.520A>G (p.Asn174Asp)
c.582A>G (p.Pro194=)
c.472A>G (p.Asn158Asp)
c.169A>G (p.Asn57Asp)
c.279A>G
c.382A>G (p.Asn128Asp)
c.385A>G (p.Asn129Asp)
c.523A>G (p.Asn175Asp)
c.16A>G (p.Asn6Asp)
n.418A>G
c.397A>G (p.Asn133Asp)
c.192A>G (p.Pro64=)
c.465A>G
c.43A>G (p.Asn15Asp)
c.326A>G (n.326A>G)
c.519A>G
c.49A>G (p.Asn17Asp)
n.605A>G
n.818A>G
n.602A>G
n.461A>G
c.469A>G (p.Asn157Asp)
c.4810-110409A>G (n.4810-110409A>G)
n.586A>G
n.961A>G
n.559A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46938647A>TCA400019006GOSR2,LRRC37A2c.526A>T (p.Asn176Tyr)
c.331A>T (p.Asn111Tyr)
c.520A>T (p.Asn174Tyr)
c.582A>T (p.Pro194=)
c.472A>T (p.Asn158Tyr)
c.169A>T (p.Asn57Tyr)
c.279A>T
c.382A>T (p.Asn128Tyr)
c.385A>T (p.Asn129Tyr)
c.523A>T (p.Asn175Tyr)
c.16A>T (p.Asn6Tyr)
n.418A>T
c.397A>T (p.Asn133Tyr)
c.192A>T (p.Pro64=)
c.465A>T
c.43A>T (p.Asn15Tyr)
c.326A>T (n.326A>T)
c.519A>T
c.49A>T (p.Asn17Tyr)
n.605A>T
n.818A>T
n.602A>T
n.461A>T
c.469A>T (p.Asn157Tyr)
c.4810-110409A>T (n.4810-110409A>T)
n.586A>T
n.961A>T
n.559A>T
17g.46938648A=CA2262452854GOSR2,LRRC37A2c.527A= (p.Asn176=)
c.332A= (p.Asn111=)
c.521A= (p.Asn174=)
c.583A= (p.Thr195=)
c.473A= (p.Asn158=)
c.170A= (p.Asn57=)
c.280A=
c.383A= (p.Asn128=)
c.386A= (p.Asn129=)
c.524A= (p.Asn175=)
c.17A= (p.Asn6=)
n.419A=
c.398A= (p.Asn133=)
c.193A= (p.Thr65=)
c.466A=
c.44A= (p.Asn15=)
c.327A= (n.327A=)
c.520A=
c.50A= (p.Asn17=)
n.606A=
n.819A=
n.603A=
n.462A=
c.470A= (p.Asn157=)
c.4810-110408A= (n.4810-110408A=)
n.587A=
n.962A=
n.560A=
17g.46938648A>CCA400019007GOSR2,LRRC37A2c.527A>C (p.Asn176Thr)
c.332A>C (p.Asn111Thr)
c.521A>C (p.Asn174Thr)
c.583A>C (p.Thr195Pro)
c.473A>C (p.Asn158Thr)
c.170A>C (p.Asn57Thr)
c.280A>C
c.383A>C (p.Asn128Thr)
c.386A>C (p.Asn129Thr)
c.524A>C (p.Asn175Thr)
c.17A>C (p.Asn6Thr)
n.419A>C
c.398A>C (p.Asn133Thr)
c.193A>C (p.Thr65Pro)
c.466A>C
c.44A>C (p.Asn15Thr)
c.327A>C (n.327A>C)
c.520A>C
c.50A>C (p.Asn17Thr)
n.606A>C
n.819A>C
n.603A>C
n.462A>C
c.470A>C (p.Asn157Thr)
c.4810-110408A>C (n.4810-110408A>C)
n.587A>C
n.962A>C
n.560A>C
17g.46938648A>GCA400019008GOSR2,LRRC37A2c.527A>G (p.Asn176Ser)
c.332A>G (p.Asn111Ser)
c.521A>G (p.Asn174Ser)
c.583A>G (p.Thr195Ala)
c.473A>G (p.Asn158Ser)
c.170A>G (p.Asn57Ser)
c.280A>G
c.383A>G (p.Asn128Ser)
c.386A>G (p.Asn129Ser)
c.524A>G (p.Asn175Ser)
c.17A>G (p.Asn6Ser)
n.419A>G
c.398A>G (p.Asn133Ser)
c.193A>G (p.Thr65Ala)
c.466A>G
c.44A>G (p.Asn15Ser)
c.327A>G (n.327A>G)
c.520A>G
c.50A>G (p.Asn17Ser)
n.606A>G
n.819A>G
n.603A>G
n.462A>G
c.470A>G (p.Asn157Ser)
c.4810-110408A>G (n.4810-110408A>G)
n.587A>G
n.962A>G
n.560A>G
17g.46938648A>TCA400019009GOSR2,LRRC37A2c.527A>T (p.Asn176Ile)
c.332A>T (p.Asn111Ile)
c.521A>T (p.Asn174Ile)
c.583A>T (p.Thr195Ser)
c.473A>T (p.Asn158Ile)
c.170A>T (p.Asn57Ile)
c.280A>T
c.383A>T (p.Asn128Ile)
c.386A>T (p.Asn129Ile)
c.524A>T (p.Asn175Ile)
c.17A>T (p.Asn6Ile)
n.419A>T
c.398A>T (p.Asn133Ile)
c.193A>T (p.Thr65Ser)
c.466A>T
c.44A>T (p.Asn15Ile)
c.327A>T (n.327A>T)
c.520A>T
c.50A>T (p.Asn17Ile)
n.606A>T
n.819A>T
n.603A>T
n.462A>T
c.470A>T (p.Asn157Ile)
c.4810-110408A>T (n.4810-110408A>T)
n.587A>T
n.962A>T
n.560A>T
 dbSNP gnomAD v3 gnomAD v4
17g.46938649C>ACA400019010GOSR2,LRRC37A2c.528C>A (p.Asn176Lys)
c.333C>A (p.Asn111Lys)
c.522C>A (p.Asn174Lys)
c.584C>A (p.Thr195Lys)
c.474C>A (p.Asn158Lys)
c.171C>A (p.Asn57Lys)
c.281C>A
c.384C>A (p.Asn128Lys)
c.387C>A (p.Asn129Lys)
c.525C>A (p.Asn175Lys)
c.18C>A (p.Asn6Lys)
n.420C>A
c.399C>A (p.Asn133Lys)
c.194C>A (p.Thr65Lys)
c.467C>A
c.45C>A (p.Asn15Lys)
c.328C>A (n.328C>A)
c.521C>A
c.51C>A (p.Asn17Lys)
n.607C>A
n.820C>A
n.604C>A
n.463C>A
c.471C>A (p.Asn157Lys)
c.4810-110407C>A (n.4810-110407C>A)
n.588C>A
n.963C>A
n.561C>A
17g.46938649C=CA2262452855GOSR2,LRRC37A2c.528C= (p.Asn176=)
c.333C= (p.Asn111=)
c.522C= (p.Asn174=)
c.584C= (p.Thr195=)
c.474C= (p.Asn158=)
c.171C= (p.Asn57=)
c.281C=
c.384C= (p.Asn128=)
c.387C= (p.Asn129=)
c.525C= (p.Asn175=)
c.18C= (p.Asn6=)
n.420C=
c.399C= (p.Asn133=)
c.194C= (p.Thr65=)
c.467C=
c.45C= (p.Asn15=)
c.328C= (n.328C=)
c.521C=
c.51C= (p.Asn17=)
n.607C=
n.820C=
n.604C=
n.463C=
c.471C= (p.Asn157=)
c.4810-110407C= (n.4810-110407C=)
n.588C=
n.963C=
n.561C=
17g.46938649C>GCA400019011GOSR2,LRRC37A2c.528C>G (p.Asn176Lys)
c.333C>G (p.Asn111Lys)
c.522C>G (p.Asn174Lys)
c.584C>G (p.Thr195Arg)
c.474C>G (p.Asn158Lys)
c.171C>G (p.Asn57Lys)
c.281C>G
c.384C>G (p.Asn128Lys)
c.387C>G (p.Asn129Lys)
c.525C>G (p.Asn175Lys)
c.18C>G (p.Asn6Lys)
n.420C>G
c.399C>G (p.Asn133Lys)
c.194C>G (p.Thr65Arg)
c.467C>G
c.45C>G (p.Asn15Lys)
c.328C>G (n.328C>G)
c.521C>G
c.51C>G (p.Asn17Lys)
n.607C>G
n.820C>G
n.604C>G
n.463C>G
c.471C>G (p.Asn157Lys)
c.4810-110407C>G (n.4810-110407C>G)
n.588C>G
n.963C>G
n.561C>G
17g.46938649C>TCA500414605GOSR2,LRRC37A2c.528C>T (p.Asn176=)
c.333C>T (p.Asn111=)
c.522C>T (p.Asn174=)
c.584C>T (p.Thr195Ile)
c.474C>T (p.Asn158=)
c.171C>T (p.Asn57=)
c.281C>T
c.384C>T (p.Asn128=)
c.387C>T (p.Asn129=)
c.525C>T (p.Asn175=)
c.18C>T (p.Asn6=)
n.420C>T
c.399C>T (p.Asn133=)
c.194C>T (p.Thr65Ile)
c.467C>T
c.45C>T (p.Asn15=)
c.328C>T (n.328C>T)
c.521C>T
c.51C>T (p.Asn17=)
n.607C>T
n.820C>T
n.604C>T
n.463C>T
c.471C>T (p.Asn157=)
c.4810-110407C>T (n.4810-110407C>T)
n.588C>T
n.963C>T
n.561C>T
 ClinVar dbSNP gnomAD v4
17g.46938650A>CCA400019012GOSR2,LRRC37A2c.529A>C (p.Thr177Pro)
c.334A>C (p.Thr112Pro)
c.523A>C (p.Thr175Pro)
c.585A>C (p.Thr195=)
c.475A>C (p.Thr159Pro)
c.172A>C (p.Thr58Pro)
c.282A>C
c.385A>C (p.Thr129Pro)
c.388A>C (p.Thr130Pro)
c.526A>C (p.Thr176Pro)
c.19A>C (p.Thr7Pro)
n.421A>C
c.400A>C (p.Thr134Pro)
c.195A>C (p.Thr65=)
c.468A>C
c.46A>C (p.Thr16Pro)
c.329A>C (n.329A>C)
c.522A>C
c.52A>C (p.Thr18Pro)
n.608A>C
n.821A>C
n.605A>C
n.464A>C
c.472A>C (p.Thr158Pro)
c.4810-110406A>C (n.4810-110406A>C)
n.589A>C
n.964A>C
n.562A>C
17g.46938650A>GCA400019013GOSR2,LRRC37A2c.529A>G (p.Thr177Ala)
c.334A>G (p.Thr112Ala)
c.523A>G (p.Thr175Ala)
c.585A>G (p.Thr195=)
c.475A>G (p.Thr159Ala)
c.172A>G (p.Thr58Ala)
c.282A>G
c.385A>G (p.Thr129Ala)
c.388A>G (p.Thr130Ala)
c.526A>G (p.Thr176Ala)
c.19A>G (p.Thr7Ala)
n.421A>G
c.400A>G (p.Thr134Ala)
c.195A>G (p.Thr65=)
c.468A>G
c.46A>G (p.Thr16Ala)
c.329A>G (n.329A>G)
c.522A>G
c.52A>G (p.Thr18Ala)
n.608A>G
n.821A>G
n.605A>G
n.464A>G
c.472A>G (p.Thr158Ala)
c.4810-110406A>G (n.4810-110406A>G)
n.589A>G
n.964A>G
n.562A>G
 gnomAD v4
17g.46938650A>TCA400019014GOSR2,LRRC37A2c.529A>T (p.Thr177Ser)
c.334A>T (p.Thr112Ser)
c.523A>T (p.Thr175Ser)
c.585A>T (p.Thr195=)
c.475A>T (p.Thr159Ser)
c.172A>T (p.Thr58Ser)
c.282A>T
c.385A>T (p.Thr129Ser)
c.388A>T (p.Thr130Ser)
c.526A>T (p.Thr176Ser)
c.19A>T (p.Thr7Ser)
n.421A>T
c.400A>T (p.Thr134Ser)
c.195A>T (p.Thr65=)
c.468A>T
c.46A>T (p.Thr16Ser)
c.329A>T (n.329A>T)
c.522A>T
c.52A>T (p.Thr18Ser)
n.608A>T
n.821A>T
n.605A>T
n.464A>T
c.472A>T (p.Thr158Ser)
c.4810-110406A>T (n.4810-110406A>T)
n.589A>T
n.964A>T
n.562A>T
17g.46938651C>ACA400019016GOSR2,LRRC37A2c.530C>A (p.Thr177Lys)
c.335C>A (p.Thr112Lys)
c.524C>A (p.Thr175Lys)
c.586C>A (p.Gln196Lys)
c.476C>A (p.Thr159Lys)
c.173C>A (p.Thr58Lys)
c.283C>A
c.386C>A (p.Thr129Lys)
c.389C>A (p.Thr130Lys)
c.527C>A (p.Thr176Lys)
c.20C>A (p.Thr7Lys)
n.422C>A
c.401C>A (p.Thr134Lys)
c.196C>A (p.Gln66Lys)
c.469C>A
c.47C>A (p.Thr16Lys)
c.330C>A (n.330C>A)
c.523C>A
c.53C>A (p.Thr18Lys)
n.609C>A
n.822C>A
n.606C>A
n.465C>A
c.473C>A (p.Thr158Lys)
c.4810-110405C>A (n.4810-110405C>A)
n.590C>A
n.965C>A
n.563C>A
17g.46938651C=CA2262452856GOSR2,LRRC37A2c.530C= (p.Thr177=)
c.335C= (p.Thr112=)
c.524C= (p.Thr175=)
c.586C= (p.Gln196=)
c.476C= (p.Thr159=)
c.173C= (p.Thr58=)
c.283C=
c.386C= (p.Thr129=)
c.389C= (p.Thr130=)
c.527C= (p.Thr176=)
c.20C= (p.Thr7=)
n.422C=
c.401C= (p.Thr134=)
c.196C= (p.Gln66=)
c.469C=
c.47C= (p.Thr16=)
c.330C= (n.330C=)
c.523C=
c.53C= (p.Thr18=)
n.609C=
n.822C=
n.606C=
n.465C=
c.473C= (p.Thr158=)
c.4810-110405C= (n.4810-110405C=)
n.590C=
n.965C=
n.563C=
17g.46938651C>GCA8621350GOSR2,LRRC37A2c.530C>G (p.Thr177Arg)
c.335C>G (p.Thr112Arg)
c.524C>G (p.Thr175Arg)
c.586C>G (p.Gln196Glu)
c.476C>G (p.Thr159Arg)
c.173C>G (p.Thr58Arg)
c.283C>G
c.386C>G (p.Thr129Arg)
c.389C>G (p.Thr130Arg)
c.527C>G (p.Thr176Arg)
c.20C>G (p.Thr7Arg)
n.422C>G
c.401C>G (p.Thr134Arg)
c.196C>G (p.Gln66Glu)
c.469C>G
c.47C>G (p.Thr16Arg)
c.330C>G (n.330C>G)
c.523C>G
c.53C>G (p.Thr18Arg)
n.609C>G
n.822C>G
n.606C>G
n.465C>G
c.473C>G (p.Thr158Arg)
c.4810-110405C>G (n.4810-110405C>G)
n.590C>G
n.965C>G
n.563C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938651C>TCA400019015GOSR2,LRRC37A2c.530C>T (p.Thr177Ile)
c.335C>T (p.Thr112Ile)
c.524C>T (p.Thr175Ile)
c.586C>T (p.Gln196Ter)
c.476C>T (p.Thr159Ile)
c.173C>T (p.Thr58Ile)
c.283C>T
c.386C>T (p.Thr129Ile)
c.389C>T (p.Thr130Ile)
c.527C>T (p.Thr176Ile)
c.20C>T (p.Thr7Ile)
n.422C>T
c.401C>T (p.Thr134Ile)
c.196C>T (p.Gln66Ter)
c.469C>T
c.47C>T (p.Thr16Ile)
c.330C>T (n.330C>T)
c.523C>T
c.53C>T (p.Thr18Ile)
n.609C>T
n.822C>T
n.606C>T
n.465C>T
c.473C>T (p.Thr158Ile)
c.4810-110405C>T (n.4810-110405C>T)
n.590C>T
n.965C>T
n.563C>T
17g.46938652A>CCA500414620GOSR2,LRRC37A2c.531A>C (p.Thr177=)
c.336A>C (p.Thr112=)
c.525A>C (p.Thr175=)
c.587A>C (p.Gln196Pro)
c.477A>C (p.Thr159=)
c.174A>C (p.Thr58=)
c.284A>C
c.387A>C (p.Thr129=)
c.390A>C (p.Thr130=)
c.528A>C (p.Thr176=)
c.21A>C (p.Thr7=)
n.423A>C
c.402A>C (p.Thr134=)
c.197A>C (p.Gln66Pro)
c.470A>C
c.48A>C (p.Thr16=)
c.331A>C (n.331A>C)
c.524A>C
c.54A>C (p.Thr18=)
n.610A>C
n.823A>C
n.607A>C
n.466A>C
c.474A>C (p.Thr158=)
c.4810-110404A>C (n.4810-110404A>C)
n.591A>C
n.966A>C
n.564A>C
17g.46938652A>GCA500414619GOSR2,LRRC37A2c.531A>G (p.Thr177=)
c.336A>G (p.Thr112=)
c.525A>G (p.Thr175=)
c.587A>G (p.Gln196Arg)
c.477A>G (p.Thr159=)
c.174A>G (p.Thr58=)
c.284A>G
c.387A>G (p.Thr129=)
c.390A>G (p.Thr130=)
c.528A>G (p.Thr176=)
c.21A>G (p.Thr7=)
n.423A>G
c.402A>G (p.Thr134=)
c.197A>G (p.Gln66Arg)
c.470A>G
c.48A>G (p.Thr16=)
c.331A>G (n.331A>G)
c.524A>G
c.54A>G (p.Thr18=)
n.610A>G
n.823A>G
n.607A>G
n.466A>G
c.474A>G (p.Thr158=)
c.4810-110404A>G (n.4810-110404A>G)
n.591A>G
n.966A>G
n.564A>G
17g.46938652A>TCA500414622GOSR2,LRRC37A2c.531A>T (p.Thr177=)
c.336A>T (p.Thr112=)
c.525A>T (p.Thr175=)
c.587A>T (p.Gln196Leu)
c.477A>T (p.Thr159=)
c.174A>T (p.Thr58=)
c.284A>T
c.387A>T (p.Thr129=)
c.390A>T (p.Thr130=)
c.528A>T (p.Thr176=)
c.21A>T (p.Thr7=)
n.423A>T
c.402A>T (p.Thr134=)
c.197A>T (p.Gln66Leu)
c.470A>T
c.48A>T (p.Thr16=)
c.331A>T (n.331A>T)
c.524A>T
c.54A>T (p.Thr18=)
n.610A>T
n.823A>T
n.607A>T
n.466A>T
c.474A>T (p.Thr158=)
c.4810-110404A>T (n.4810-110404A>T)
n.591A>T
n.966A>T
n.564A>T
17g.46938653G>ACA400019017GOSR2,LRRC37A2c.532G>A (p.Val178Met)
c.337G>A (p.Val113Met)
c.526G>A (p.Val176Met)
c.588G>A (p.Gln196=)
c.478G>A (p.Val160Met)
c.175G>A (p.Val59Met)
c.285G>A
c.388G>A (p.Val130Met)
c.391G>A (p.Val131Met)
c.529G>A (p.Val177Met)
c.22G>A (p.Val8Met)
n.424G>A
c.403G>A (p.Val135Met)
c.198G>A (p.Gln66=)
c.471G>A
c.49G>A (p.Val17Met)
c.332G>A (n.332G>A)
c.525G>A
c.55G>A (p.Val19Met)
n.611G>A
n.824G>A
n.608G>A
n.467G>A
c.475G>A (p.Val159Met)
c.4810-110403G>A (n.4810-110403G>A)
n.592G>A
n.967G>A
n.565G>A
17g.46938653G>CCA400019018GOSR2,LRRC37A2c.532G>C (p.Val178Leu)
c.337G>C (p.Val113Leu)
c.526G>C (p.Val176Leu)
c.588G>C (p.Gln196His)
c.478G>C (p.Val160Leu)
c.175G>C (p.Val59Leu)
c.285G>C
c.388G>C (p.Val130Leu)
c.391G>C (p.Val131Leu)
c.529G>C (p.Val177Leu)
c.22G>C (p.Val8Leu)
n.424G>C
c.403G>C (p.Val135Leu)
c.198G>C (p.Gln66His)
c.471G>C
c.49G>C (p.Val17Leu)
c.332G>C (n.332G>C)
c.525G>C
c.55G>C (p.Val19Leu)
n.611G>C
n.824G>C
n.608G>C
n.467G>C
c.475G>C (p.Val159Leu)
c.4810-110403G>C (n.4810-110403G>C)
n.592G>C
n.967G>C
n.565G>C
17g.46938653G>TCA400019019GOSR2,LRRC37A2c.532G>T (p.Val178Leu)
c.337G>T (p.Val113Leu)
c.526G>T (p.Val176Leu)
c.588G>T (p.Gln196His)
c.478G>T (p.Val160Leu)
c.175G>T (p.Val59Leu)
c.285G>T
c.388G>T (p.Val130Leu)
c.391G>T (p.Val131Leu)
c.529G>T (p.Val177Leu)
c.22G>T (p.Val8Leu)
n.424G>T
c.403G>T (p.Val135Leu)
c.198G>T (p.Gln66His)
c.471G>T
c.49G>T (p.Val17Leu)
c.332G>T (n.332G>T)
c.525G>T
c.55G>T (p.Val19Leu)
n.611G>T
n.824G>T
n.608G>T
n.467G>T
c.475G>T (p.Val159Leu)
c.4810-110403G>T (n.4810-110403G>T)
n.592G>T
n.967G>T
n.565G>T
17g.46938654T>ACA400019020GOSR2,LRRC37A2c.533T>A (p.Val178Glu)
c.338T>A (p.Val113Glu)
c.527T>A (p.Val176Glu)
c.589T>A (p.Ter197Arg)
c.479T>A (p.Val160Glu)
c.176T>A (p.Val59Glu)
c.286T>A
c.389T>A (p.Val130Glu)
c.392T>A (p.Val131Glu)
c.530T>A (p.Val177Glu)
c.23T>A (p.Val8Glu)
n.425T>A
c.404T>A (p.Val135Glu)
c.199T>A (p.Ter67Arg)
c.472T>A
c.50T>A (p.Val17Glu)
c.333T>A (n.333T>A)
c.526T>A
c.56T>A (p.Val19Glu)
n.612T>A
n.825T>A
n.609T>A
n.468T>A
c.476T>A (p.Val159Glu)
c.4810-110402T>A (n.4810-110402T>A)
n.593T>A
n.968T>A
n.566T>A
17g.46938654T>CCA400019021GOSR2,LRRC37A2c.533T>C (p.Val178Ala)
c.338T>C (p.Val113Ala)
c.527T>C (p.Val176Ala)
c.589T>C (p.Ter197Arg)
c.479T>C (p.Val160Ala)
c.176T>C (p.Val59Ala)
c.286T>C
c.389T>C (p.Val130Ala)
c.392T>C (p.Val131Ala)
c.530T>C (p.Val177Ala)
c.23T>C (p.Val8Ala)
n.425T>C
c.404T>C (p.Val135Ala)
c.199T>C (p.Ter67Arg)
c.472T>C
c.50T>C (p.Val17Ala)
c.333T>C (n.333T>C)
c.526T>C
c.56T>C (p.Val19Ala)
n.612T>C
n.825T>C
n.609T>C
n.468T>C
c.476T>C (p.Val159Ala)
c.4810-110402T>C (n.4810-110402T>C)
n.593T>C
n.968T>C
n.566T>C
17g.46938654T>GCA400019022GOSR2,LRRC37A2c.533T>G (p.Val178Gly)
c.338T>G (p.Val113Gly)
c.527T>G (p.Val176Gly)
c.589T>G (p.Ter197Gly)
c.479T>G (p.Val160Gly)
c.176T>G (p.Val59Gly)
c.286T>G
c.389T>G (p.Val130Gly)
c.392T>G (p.Val131Gly)
c.530T>G (p.Val177Gly)
c.23T>G (p.Val8Gly)
n.425T>G
c.404T>G (p.Val135Gly)
c.199T>G (p.Ter67Gly)
c.472T>G
c.50T>G (p.Val17Gly)
c.333T>G (n.333T>G)
c.526T>G
c.56T>G (p.Val19Gly)
n.612T>G
n.825T>G
n.609T>G
n.468T>G
c.476T>G (p.Val159Gly)
c.4810-110402T>G (n.4810-110402T>G)
n.593T>G
n.968T>G
n.566T>G
17g.46938655G>ACA500414632GOSR2,LRRC37A2c.534G>A (p.Val178=)
c.339G>A (p.Val113=)
c.528G>A (p.Val176=)
c.590G>A (p.Ter197=)
c.480G>A (p.Val160=)
c.177G>A (p.Val59=)
c.287G>A
c.390G>A (p.Val130=)
c.393G>A (p.Val131=)
c.531G>A (p.Val177=)
c.24G>A (p.Val8=)
n.426G>A
c.405G>A (p.Val135=)
c.200G>A (p.Ter67=)
c.473G>A
c.51G>A (p.Val17=)
c.334G>A (n.334G>A)
c.527G>A
c.57G>A (p.Val19=)
n.613G>A
n.826G>A
n.610G>A
n.469G>A
c.477G>A (p.Val159=)
c.4810-110401G>A (n.4810-110401G>A)
n.594G>A
n.969G>A
n.567G>A
17g.46938655G>CCA500414634GOSR2,LRRC37A2c.534G>C (p.Val178=)
c.339G>C (p.Val113=)
c.528G>C (p.Val176=)
c.590G>C (p.Ter197Ser)
c.480G>C (p.Val160=)
c.177G>C (p.Val59=)
c.287G>C
c.390G>C (p.Val130=)
c.393G>C (p.Val131=)
c.531G>C (p.Val177=)
c.24G>C (p.Val8=)
n.426G>C
c.405G>C (p.Val135=)
c.200G>C (p.Ter67Ser)
c.473G>C
c.51G>C (p.Val17=)
c.334G>C (n.334G>C)
c.527G>C
c.57G>C (p.Val19=)
n.613G>C
n.826G>C
n.610G>C
n.469G>C
c.477G>C (p.Val159=)
c.4810-110401G>C (n.4810-110401G>C)
n.594G>C
n.969G>C
n.567G>C
 gnomAD v4
17g.46938655G>TCA500414636GOSR2,LRRC37A2c.534G>T (p.Val178=)
c.339G>T (p.Val113=)
c.528G>T (p.Val176=)
c.590G>T (p.Ter197Leu)
c.480G>T (p.Val160=)
c.177G>T (p.Val59=)
c.287G>T
c.390G>T (p.Val130=)
c.393G>T (p.Val131=)
c.531G>T (p.Val177=)
c.24G>T (p.Val8=)
n.426G>T
c.405G>T (p.Val135=)
c.200G>T (p.Ter67Leu)
c.473G>T
c.51G>T (p.Val17=)
c.334G>T (n.334G>T)
c.527G>T
c.57G>T (p.Val19=)
n.613G>T
n.826G>T
n.610G>T
n.469G>T
c.477G>T (p.Val159=)
c.4810-110401G>T (n.4810-110401G>T)
n.594G>T
n.969G>T
n.567G>T
 COSMIC
17g.46938656A=CA2262452857GOSR2,LRRC37A2c.535A= (p.Met179=)
c.340A= (p.Met114=)
c.529A= (p.Met177=)
c.591A= (p.Ter197=)
c.481A= (p.Met161=)
c.178A= (p.Met60=)
c.288A=
c.391A= (p.Met131=)
c.394A= (p.Met132=)
c.532A= (p.Met178=)
c.25A= (p.Met9=)
n.427A=
c.406A= (p.Met136=)
c.201A= (p.Ter67=)
c.474A=
c.52A= (p.Met18=)
c.335A= (n.335A=)
c.528A=
c.58A= (p.Met20=)
n.614A=
n.827A=
n.611A=
n.470A=
c.478A= (p.Met160=)
c.4810-110400A= (n.4810-110400A=)
n.595A=
n.970A=
n.568A=
17g.46938656A>CCA400019023GOSR2,LRRC37A2c.535A>C (p.Met179Leu)
c.340A>C (p.Met114Leu)
c.529A>C (p.Met177Leu)
c.591A>C (p.Ter197Cys)
c.481A>C (p.Met161Leu)
c.178A>C (p.Met60Leu)
c.288A>C
c.391A>C (p.Met131Leu)
c.394A>C (p.Met132Leu)
c.532A>C (p.Met178Leu)
c.25A>C (p.Met9Leu)
n.427A>C
c.406A>C (p.Met136Leu)
c.201A>C (p.Ter67Cys)
c.474A>C
c.52A>C (p.Met18Leu)
c.335A>C (n.335A>C)
c.528A>C
c.58A>C (p.Met20Leu)
n.614A>C
n.827A>C
n.611A>C
n.470A>C
c.478A>C (p.Met160Leu)
c.4810-110400A>C (n.4810-110400A>C)
n.595A>C
n.970A>C
n.568A>C
17g.46938656A>GCA400019024GOSR2,LRRC37A2c.535A>G (p.Met179Val)
c.340A>G (p.Met114Val)
c.529A>G (p.Met177Val)
c.591A>G (p.Ter197Trp)
c.481A>G (p.Met161Val)
c.178A>G (p.Met60Val)
c.288A>G
c.391A>G (p.Met131Val)
c.394A>G (p.Met132Val)
c.532A>G (p.Met178Val)
c.25A>G (p.Met9Val)
n.427A>G
c.406A>G (p.Met136Val)
c.201A>G (p.Ter67Trp)
c.474A>G
c.52A>G (p.Met18Val)
c.335A>G (n.335A>G)
c.528A>G
c.58A>G (p.Met20Val)
n.614A>G
n.827A>G
n.611A>G
n.470A>G
c.478A>G (p.Met160Val)
c.4810-110400A>G (n.4810-110400A>G)
n.595A>G
n.970A>G
n.568A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46938656A>TCA8621351GOSR2,LRRC37A2c.535A>T (p.Met179Leu)
c.340A>T (p.Met114Leu)
c.529A>T (p.Met177Leu)
c.591A>T (p.Ter197Cys)
c.481A>T (p.Met161Leu)
c.178A>T (p.Met60Leu)
c.288A>T
c.391A>T (p.Met131Leu)
c.394A>T (p.Met132Leu)
c.532A>T (p.Met178Leu)
c.25A>T (p.Met9Leu)
n.427A>T
c.406A>T (p.Met136Leu)
c.201A>T (p.Ter67Cys)
c.474A>T
c.52A>T (p.Met18Leu)
c.335A>T (n.335A>T)
c.528A>T
c.58A>T (p.Met20Leu)
n.614A>T
n.827A>T
n.611A>T
n.470A>T
c.478A>T (p.Met160Leu)
c.4810-110400A>T (n.4810-110400A>T)
n.595A>T
n.970A>T
n.568A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46938657T>ACA400019025GOSR2,LRRC37A2c.536T>A (p.Met179Lys)
c.341T>A (p.Met114Lys)
c.530T>A (p.Met177Lys)
c.*1T>A (n.*1T>A)
c.482T>A (p.Met161Lys)
c.179T>A (p.Met60Lys)
c.289T>A
c.392T>A (p.Met131Lys)
c.395T>A (p.Met132Lys)
c.533T>A (p.Met178Lys)
c.26T>A (p.Met9Lys)
n.428T>A
c.407T>A (p.Met136Lys)
c.475T>A
c.53T>A (p.Met18Lys)
c.336T>A (n.336T>A)
c.529T>A
c.59T>A (p.Met20Lys)
n.615T>A
n.828T>A
n.612T>A
n.471T>A
c.479T>A (p.Met160Lys)
c.4810-110399T>A (n.4810-110399T>A)
n.596T>A
n.971T>A
n.569T>A
17g.46938657T>CCA400019026GOSR2,LRRC37A2c.536T>C (p.Met179Thr)
c.341T>C (p.Met114Thr)
c.530T>C (p.Met177Thr)
c.*1T>C (n.*1T>C)
c.482T>C (p.Met161Thr)
c.179T>C (p.Met60Thr)
c.289T>C
c.392T>C (p.Met131Thr)
c.395T>C (p.Met132Thr)
c.533T>C (p.Met178Thr)
c.26T>C (p.Met9Thr)
n.428T>C
c.407T>C (p.Met136Thr)
c.475T>C
c.53T>C (p.Met18Thr)
c.336T>C (n.336T>C)
c.529T>C
c.59T>C (p.Met20Thr)
n.615T>C
n.828T>C
n.612T>C
n.471T>C
c.479T>C (p.Met160Thr)
c.4810-110399T>C (n.4810-110399T>C)
n.596T>C
n.971T>C
n.569T>C
 ClinVar
17g.46938657T>GCA400019027GOSR2,LRRC37A2c.536T>G (p.Met179Arg)
c.341T>G (p.Met114Arg)
c.530T>G (p.Met177Arg)
c.*1T>G (n.*1T>G)
c.482T>G (p.Met161Arg)
c.179T>G (p.Met60Arg)
c.289T>G
c.392T>G (p.Met131Arg)
c.395T>G (p.Met132Arg)
c.533T>G (p.Met178Arg)
c.26T>G (p.Met9Arg)
n.428T>G
c.407T>G (p.Met136Arg)
c.475T>G
c.53T>G (p.Met18Arg)
c.336T>G (n.336T>G)
c.529T>G
c.59T>G (p.Met20Arg)
n.615T>G
n.828T>G
n.612T>G
n.471T>G
c.479T>G (p.Met160Arg)
c.4810-110399T>G (n.4810-110399T>G)
n.596T>G
n.971T>G
n.569T>G
17g.46938658G>ACA400019029GOSR2,LRRC37A2c.537G>A (p.Met179Ile)
c.342G>A (p.Met114Ile)
c.531G>A (p.Met177Ile)
c.*2G>A (n.*2G>A)
c.483G>A (p.Met161Ile)
c.180G>A (p.Met60Ile)
c.290G>A
c.393G>A (p.Met131Ile)
c.396G>A (p.Met132Ile)
c.534G>A (p.Met178Ile)
c.27G>A (p.Met9Ile)
n.429G>A
c.408G>A (p.Met136Ile)
c.476G>A
c.54G>A (p.Met18Ile)
c.337G>A (n.337G>A)
c.530G>A
c.60G>A (p.Met20Ile)
n.616G>A
n.829G>A
n.613G>A
n.472G>A
c.480G>A (p.Met160Ile)
c.4810-110398G>A (n.4810-110398G>A)
n.597G>A
n.972G>A
n.570G>A
17g.46938658G>CCA400019030GOSR2,LRRC37A2c.537G>C (p.Met179Ile)
c.342G>C (p.Met114Ile)
c.531G>C (p.Met177Ile)
c.*2G>C (n.*2G>C)
c.483G>C (p.Met161Ile)
c.180G>C (p.Met60Ile)
c.290G>C
c.393G>C (p.Met131Ile)
c.396G>C (p.Met132Ile)
c.534G>C (p.Met178Ile)
c.27G>C (p.Met9Ile)
n.429G>C
c.408G>C (p.Met136Ile)
c.476G>C
c.54G>C (p.Met18Ile)
c.337G>C (n.337G>C)
c.530G>C
c.60G>C (p.Met20Ile)
n.616G>C
n.829G>C
n.613G>C
n.472G>C
c.480G>C (p.Met160Ile)
c.4810-110398G>C (n.4810-110398G>C)
n.597G>C
n.972G>C
n.570G>C
17g.46938658G>TCA400019028GOSR2,LRRC37A2c.537G>T (p.Met179Ile)
c.342G>T (p.Met114Ile)
c.531G>T (p.Met177Ile)
c.*2G>T (n.*2G>T)
c.483G>T (p.Met161Ile)
c.180G>T (p.Met60Ile)
c.290G>T
c.393G>T (p.Met131Ile)
c.396G>T (p.Met132Ile)
c.534G>T (p.Met178Ile)
c.27G>T (p.Met9Ile)
n.429G>T
c.408G>T (p.Met136Ile)
c.476G>T
c.54G>T (p.Met18Ile)
c.337G>T (n.337G>T)
c.530G>T
c.60G>T (p.Met20Ile)
n.616G>T
n.829G>T
n.613G>T
n.472G>T
c.480G>T (p.Met160Ile)
c.4810-110398G>T (n.4810-110398G>T)
n.597G>T
n.972G>T
n.570G>T
17g.46938659C>ACA500414650GOSR2,LRRC37A2c.538C>A (p.Arg180=)
c.343C>A (p.Arg115=)
c.532C>A (p.Arg178=)
c.*3C>A (n.*3C>A)
c.484C>A (p.Arg162=)
c.181C>A (p.Arg61=)
c.291C>A
c.394C>A (p.Arg132=)
c.397C>A (p.Arg133=)
c.535C>A (p.Arg179=)
c.28C>A (p.Arg10=)
n.430C>A
c.409C>A (p.Arg137=)
c.477C>A
c.55C>A (p.Arg19=)
c.338C>A (n.338C>A)
c.531C>A
c.61C>A (p.Arg21=)
n.617C>A
n.830C>A
n.614C>A
n.473C>A
c.481C>A (p.Arg161=)
c.4810-110397C>A (n.4810-110397C>A)
n.598C>A
n.973C>A
n.571C>A
 dbSNP
17g.46938659C=CA2262452858GOSR2,LRRC37A2c.538C= (p.Arg180=)
c.343C= (p.Arg115=)
c.532C= (p.Arg178=)
c.*3C= (n.*3C=)
c.484C= (p.Arg162=)
c.181C= (p.Arg61=)
c.291C=
c.394C= (p.Arg132=)
c.397C= (p.Arg133=)
c.535C= (p.Arg179=)
c.28C= (p.Arg10=)
n.430C=
c.409C= (p.Arg137=)
c.477C=
c.55C= (p.Arg19=)
c.338C= (n.338C=)
c.531C=
c.61C= (p.Arg21=)
n.617C=
n.830C=
n.614C=
n.473C=
c.481C= (p.Arg161=)
c.4810-110397C= (n.4810-110397C=)
n.598C=
n.973C=
n.571C=
17g.46938659C>GCA400019031GOSR2,LRRC37A2c.538C>G (p.Arg180Gly)
c.343C>G (p.Arg115Gly)
c.532C>G (p.Arg178Gly)
c.*3C>G (n.*3C>G)
c.484C>G (p.Arg162Gly)
c.181C>G (p.Arg61Gly)
c.291C>G
c.394C>G (p.Arg132Gly)
c.397C>G (p.Arg133Gly)
c.535C>G (p.Arg179Gly)
c.28C>G (p.Arg10Gly)
n.430C>G
c.409C>G (p.Arg137Gly)
c.477C>G
c.55C>G (p.Arg19Gly)
c.338C>G (n.338C>G)
c.531C>G
c.61C>G (p.Arg21Gly)
n.617C>G
n.830C>G
n.614C>G
n.473C>G
c.481C>G (p.Arg161Gly)
c.4810-110397C>G (n.4810-110397C>G)
n.598C>G
n.973C>G
n.571C>G
 dbSNP gnomAD v2 gnomAD v4
17g.46938659C>TCA400019032GOSR2,LRRC37A2c.538C>T (p.Arg180Trp)
c.343C>T (p.Arg115Trp)
c.532C>T (p.Arg178Trp)
c.*3C>T (n.*3C>T)
c.484C>T (p.Arg162Trp)
c.181C>T (p.Arg61Trp)
c.291C>T
c.394C>T (p.Arg132Trp)
c.397C>T (p.Arg133Trp)
c.535C>T (p.Arg179Trp)
c.28C>T (p.Arg10Trp)
n.430C>T
c.409C>T (p.Arg137Trp)
c.477C>T
c.55C>T (p.Arg19Trp)
c.338C>T (n.338C>T)
c.531C>T
c.61C>T (p.Arg21Trp)
n.617C>T
n.830C>T
n.614C>T
n.473C>T
c.481C>T (p.Arg161Trp)
c.4810-110397C>T (n.4810-110397C>T)
n.598C>T
n.973C>T
n.571C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.46938660G>ACA400019033GOSR2,LRRC37A2c.539G>A (p.Arg180Gln)
c.344G>A (p.Arg115Gln)
c.533G>A (p.Arg178Gln)
c.*4G>A (n.*4G>A)
c.485G>A (p.Arg162Gln)
c.182G>A (p.Arg61Gln)
c.292G>A
c.395G>A (p.Arg132Gln)
c.398G>A (p.Arg133Gln)
c.536G>A (p.Arg179Gln)
c.29G>A (p.Arg10Gln)
n.431G>A
c.410G>A (p.Arg137Gln)
c.478G>A
c.56G>A (p.Arg19Gln)
c.339G>A (n.339G>A)
c.532G>A
c.62G>A (p.Arg21Gln)
n.618G>A
n.831G>A
n.615G>A
n.474G>A
c.482G>A (p.Arg161Gln)
c.4810-110396G>A (n.4810-110396G>A)
n.599G>A
n.974G>A
n.572G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.46938660G>CCA400019034GOSR2,LRRC37A2c.539G>C (p.Arg180Pro)
c.344G>C (p.Arg115Pro)
c.533G>C (p.Arg178Pro)
c.*4G>C (n.*4G>C)
c.485G>C (p.Arg162Pro)
c.182G>C (p.Arg61Pro)
c.292G>C
c.395G>C (p.Arg132Pro)
c.398G>C (p.Arg133Pro)
c.536G>C (p.Arg179Pro)
c.29G>C (p.Arg10Pro)
n.431G>C
c.410G>C (p.Arg137Pro)
c.478G>C
c.56G>C (p.Arg19Pro)
c.339G>C (n.339G>C)
c.532G>C
c.62G>C (p.Arg21Pro)
n.618G>C
n.831G>C
n.615G>C
n.474G>C
c.482G>C (p.Arg161Pro)
c.4810-110396G>C (n.4810-110396G>C)
n.599G>C
n.974G>C
n.572G>C
17g.46938660G=CA2262452859GOSR2,LRRC37A2c.539G= (p.Arg180=)
c.344G= (p.Arg115=)
c.533G= (p.Arg178=)
c.*4G= (n.*4G=)
c.485G= (p.Arg162=)
c.182G= (p.Arg61=)
c.292G=
c.395G= (p.Arg132=)
c.398G= (p.Arg133=)
c.536G= (p.Arg179=)
c.29G= (p.Arg10=)
n.431G=
c.410G= (p.Arg137=)
c.478G=
c.56G= (p.Arg19=)
c.339G= (n.339G=)
c.532G=
c.62G= (p.Arg21=)
n.618G=
n.831G=
n.615G=
n.474G=
c.482G= (p.Arg161=)
c.4810-110396G= (n.4810-110396G=)
n.599G=
n.974G=
n.572G=
17g.46938660G>TCA400019035GOSR2,LRRC37A2c.539G>T (p.Arg180Leu)
c.344G>T (p.Arg115Leu)
c.533G>T (p.Arg178Leu)
c.*4G>T (n.*4G>T)
c.485G>T (p.Arg162Leu)
c.182G>T (p.Arg61Leu)
c.292G>T
c.395G>T (p.Arg132Leu)
c.398G>T (p.Arg133Leu)
c.536G>T (p.Arg179Leu)
c.29G>T (p.Arg10Leu)
n.431G>T
c.410G>T (p.Arg137Leu)
c.478G>T
c.56G>T (p.Arg19Leu)
c.339G>T (n.339G>T)
c.532G>T
c.62G>T (p.Arg21Leu)
n.618G>T
n.831G>T
n.615G>T
n.474G>T
c.482G>T (p.Arg161Leu)
c.4810-110396G>T (n.4810-110396G>T)
n.599G>T
n.974G>T
n.572G>T
17g.46938661G>ACA500414662GOSR2,LRRC37A2c.540G>A (p.Arg180=)
c.345G>A (p.Arg115=)
c.534G>A (p.Arg178=)
c.*5G>A (n.*5G>A)
c.486G>A (p.Arg162=)
c.183G>A (p.Arg61=)
c.293G>A
c.396G>A (p.Arg132=)
c.399G>A (p.Arg133=)
c.537G>A (p.Arg179=)
c.30G>A (p.Arg10=)
n.432G>A
c.411G>A (p.Arg137=)
c.479G>A
c.57G>A (p.Arg19=)
c.340G>A (n.340G>A)
c.533G>A
c.63G>A (p.Arg21=)
n.619G>A
n.832G>A
n.616G>A
n.475G>A
c.483G>A (p.Arg161=)
c.4810-110395G>A (n.4810-110395G>A)
n.600G>A
n.975G>A
n.573G>A
 dbSNP gnomAD v2 gnomAD v4
17g.46938661G>CCA500414659GOSR2,LRRC37A2c.540G>C (p.Arg180=)
c.345G>C (p.Arg115=)
c.534G>C (p.Arg178=)
c.*5G>C (n.*5G>C)
c.486G>C (p.Arg162=)
c.183G>C (p.Arg61=)
c.293G>C
c.396G>C (p.Arg132=)
c.399G>C (p.Arg133=)
c.537G>C (p.Arg179=)
c.30G>C (p.Arg10=)
n.432G>C
c.411G>C (p.Arg137=)
c.479G>C
c.57G>C (p.Arg19=)
c.340G>C (n.340G>C)
c.533G>C
c.63G>C (p.Arg21=)
n.619G>C
n.832G>C
n.616G>C
n.475G>C
c.483G>C (p.Arg161=)
c.4810-110395G>C (n.4810-110395G>C)
n.600G>C
n.975G>C
n.573G>C
17g.46938661G=CA2262452860GOSR2,LRRC37A2c.540G= (p.Arg180=)
c.345G= (p.Arg115=)
c.534G= (p.Arg178=)
c.*5G= (n.*5G=)
c.486G= (p.Arg162=)
c.183G= (p.Arg61=)
c.293G=
c.396G= (p.Arg132=)
c.399G= (p.Arg133=)
c.537G= (p.Arg179=)
c.30G= (p.Arg10=)
n.432G=
c.411G= (p.Arg137=)
c.479G=
c.57G= (p.Arg19=)
c.340G= (n.340G=)
c.533G=
c.63G= (p.Arg21=)
n.619G=
n.832G=
n.616G=
n.475G=
c.483G= (p.Arg161=)
c.4810-110395G= (n.4810-110395G=)
n.600G=
n.975G=
n.573G=
17g.46938661G>TCA500414660GOSR2,LRRC37A2c.540G>T (p.Arg180=)
c.345G>T (p.Arg115=)
c.534G>T (p.Arg178=)
c.*5G>T (n.*5G>T)
c.486G>T (p.Arg162=)
c.183G>T (p.Arg61=)
c.293G>T
c.396G>T (p.Arg132=)
c.399G>T (p.Arg133=)
c.537G>T (p.Arg179=)
c.30G>T (p.Arg10=)
n.432G>T
c.411G>T (p.Arg137=)
c.479G>T
c.57G>T (p.Arg19=)
c.340G>T (n.340G>T)
c.533G>T
c.63G>T (p.Arg21=)
n.619G>T
n.832G>T
n.616G>T
n.475G>T
c.483G>T (p.Arg161=)
c.4810-110395G>T (n.4810-110395G>T)
n.600G>T
n.975G>T
n.573G>T
 dbSNP gnomAD v2 gnomAD v4
17g.46938662C>ACA400019037GOSR2,LRRC37A2c.541C>A (p.Leu181Ile)
c.346C>A (p.Leu116Ile)
c.535C>A (p.Leu179Ile)
c.*6C>A (n.*6C>A)
c.487C>A (p.Leu163Ile)
c.184C>A (p.Leu62Ile)
c.294C>A
c.397C>A (p.Leu133Ile)
c.400C>A (p.Leu134Ile)
c.538C>A (p.Leu180Ile)
c.31C>A (p.Leu11Ile)
n.433C>A
c.412C>A (p.Leu138Ile)
c.480C>A
c.58C>A (p.Leu20Ile)
c.341C>A (n.341C>A)
c.534C>A
c.64C>A (p.Leu22Ile)
n.620C>A
n.833C>A
n.617C>A
n.476C>A
c.484C>A (p.Leu162Ile)
c.4810-110394C>A (n.4810-110394C>A)
n.601C>A
n.976C>A
n.574C>A
17g.46938662C=CA2262452861GOSR2,LRRC37A2c.541C= (p.Leu181=)
c.346C= (p.Leu116=)
c.535C= (p.Leu179=)
c.*6C= (n.*6C=)
c.487C= (p.Leu163=)
c.184C= (p.Leu62=)
c.294C=
c.397C= (p.Leu133=)
c.400C= (p.Leu134=)
c.538C= (p.Leu180=)
c.31C= (p.Leu11=)
n.433C=
c.412C= (p.Leu138=)
c.480C=
c.58C= (p.Leu20=)
c.341C= (n.341C=)
c.534C=
c.64C= (p.Leu22=)
n.620C=
n.833C=
n.617C=
n.476C=
c.484C= (p.Leu162=)
c.4810-110394C= (n.4810-110394C=)
n.601C=
n.976C=
n.574C=
17g.46938662C>GCA8621352GOSR2,LRRC37A2c.541C>G (p.Leu181Val)
c.346C>G (p.Leu116Val)
c.535C>G (p.Leu179Val)
c.*6C>G (n.*6C>G)
c.487C>G (p.Leu163Val)
c.184C>G (p.Leu62Val)
c.294C>G
c.397C>G (p.Leu133Val)
c.400C>G (p.Leu134Val)
c.538C>G (p.Leu180Val)
c.31C>G (p.Leu11Val)
n.433C>G
c.412C>G (p.Leu138Val)
c.480C>G
c.58C>G (p.Leu20Val)
c.341C>G (n.341C>G)
c.534C>G
c.64C>G (p.Leu22Val)
n.620C>G
n.833C>G
n.617C>G
n.476C>G
c.484C>G (p.Leu162Val)
c.4810-110394C>G (n.4810-110394C>G)
n.601C>G
n.976C>G
n.574C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938662C>TCA400019036GOSR2,LRRC37A2c.541C>T (p.Leu181Phe)
c.346C>T (p.Leu116Phe)
c.535C>T (p.Leu179Phe)
c.*6C>T (n.*6C>T)
c.487C>T (p.Leu163Phe)
c.184C>T (p.Leu62Phe)
c.294C>T
c.397C>T (p.Leu133Phe)
c.400C>T (p.Leu134Phe)
c.538C>T (p.Leu180Phe)
c.31C>T (p.Leu11Phe)
n.433C>T
c.412C>T (p.Leu138Phe)
c.480C>T
c.58C>T (p.Leu20Phe)
c.341C>T (n.341C>T)
c.534C>T
c.64C>T (p.Leu22Phe)
n.620C>T
n.833C>T
n.617C>T
n.476C>T
c.484C>T (p.Leu162Phe)
c.4810-110394C>T (n.4810-110394C>T)
n.601C>T
n.976C>T
n.574C>T
17g.46938663T>ACA400019038GOSR2,LRRC37A2c.542T>A (p.Leu181His)
c.347T>A (p.Leu116His)
c.536T>A (p.Leu179His)
c.*7T>A (n.*7T>A)
c.488T>A (p.Leu163His)
c.185T>A (p.Leu62His)
c.295T>A
c.398T>A (p.Leu133His)
c.401T>A (p.Leu134His)
c.539T>A (p.Leu180His)
c.32T>A (p.Leu11His)
n.434T>A
c.413T>A (p.Leu138His)
c.481T>A
c.59T>A (p.Leu20His)
c.342T>A (n.342T>A)
c.535T>A
c.65T>A (p.Leu22His)
n.621T>A
n.834T>A
n.618T>A
n.477T>A
c.485T>A (p.Leu162His)
c.4810-110393T>A (n.4810-110393T>A)
n.602T>A
n.977T>A
n.575T>A
17g.46938663T>CCA400019039GOSR2,LRRC37A2c.542T>C (p.Leu181Pro)
c.347T>C (p.Leu116Pro)
c.536T>C (p.Leu179Pro)
c.*7T>C (n.*7T>C)
c.488T>C (p.Leu163Pro)
c.185T>C (p.Leu62Pro)
c.295T>C
c.398T>C (p.Leu133Pro)
c.401T>C (p.Leu134Pro)
c.539T>C (p.Leu180Pro)
c.32T>C (p.Leu11Pro)
n.434T>C
c.413T>C (p.Leu138Pro)
c.481T>C
c.59T>C (p.Leu20Pro)
c.342T>C (n.342T>C)
c.535T>C
c.65T>C (p.Leu22Pro)
n.621T>C
n.834T>C
n.618T>C
n.477T>C
c.485T>C (p.Leu162Pro)
c.4810-110393T>C (n.4810-110393T>C)
n.602T>C
n.977T>C
n.575T>C
 gnomAD v4
17g.46938663T>GCA400019040GOSR2,LRRC37A2c.542T>G (p.Leu181Arg)
c.347T>G (p.Leu116Arg)
c.536T>G (p.Leu179Arg)
c.*7T>G (n.*7T>G)
c.488T>G (p.Leu163Arg)
c.185T>G (p.Leu62Arg)
c.295T>G
c.398T>G (p.Leu133Arg)
c.401T>G (p.Leu134Arg)
c.539T>G (p.Leu180Arg)
c.32T>G (p.Leu11Arg)
n.434T>G
c.413T>G (p.Leu138Arg)
c.481T>G
c.59T>G (p.Leu20Arg)
c.342T>G (n.342T>G)
c.535T>G
c.65T>G (p.Leu22Arg)
n.621T>G
n.834T>G
n.618T>G
n.477T>G
c.485T>G (p.Leu162Arg)
c.4810-110393T>G (n.4810-110393T>G)
n.602T>G
n.977T>G
n.575T>G
17g.46938664C>ACA500414677GOSR2,LRRC37A2c.543C>A (p.Leu181=)
c.348C>A (p.Leu116=)
c.537C>A (p.Leu179=)
c.*8C>A (n.*8C>A)
c.489C>A (p.Leu163=)
c.186C>A (p.Leu62=)
c.296C>A
c.399C>A (p.Leu133=)
c.402C>A (p.Leu134=)
c.540C>A (p.Leu180=)
c.33C>A (p.Leu11=)
n.435C>A
c.414C>A (p.Leu138=)
c.482C>A
c.60C>A (p.Leu20=)
c.343C>A (n.343C>A)
c.536C>A
c.66C>A (p.Leu22=)
n.622C>A
n.835C>A
n.619C>A
n.478C>A
c.486C>A (p.Leu162=)
c.4810-110392C>A (n.4810-110392C>A)
n.603C>A
n.978C>A
n.576C>A
17g.46938664C>GCA500414673GOSR2,LRRC37A2c.543C>G (p.Leu181=)
c.348C>G (p.Leu116=)
c.537C>G (p.Leu179=)
c.*8C>G (n.*8C>G)
c.489C>G (p.Leu163=)
c.186C>G (p.Leu62=)
c.296C>G
c.399C>G (p.Leu133=)
c.402C>G (p.Leu134=)
c.540C>G (p.Leu180=)
c.33C>G (p.Leu11=)
n.435C>G
c.414C>G (p.Leu138=)
c.482C>G
c.60C>G (p.Leu20=)
c.343C>G (n.343C>G)
c.536C>G
c.66C>G (p.Leu22=)
n.622C>G
n.835C>G
n.619C>G
n.478C>G
c.486C>G (p.Leu162=)
c.4810-110392C>G (n.4810-110392C>G)
n.603C>G
n.978C>G
n.576C>G
17g.46938664C>TCA500414675GOSR2,LRRC37A2c.543C>T (p.Leu181=)
c.348C>T (p.Leu116=)
c.537C>T (p.Leu179=)
c.*8C>T (n.*8C>T)
c.489C>T (p.Leu163=)
c.186C>T (p.Leu62=)
c.296C>T
c.399C>T (p.Leu133=)
c.402C>T (p.Leu134=)
c.540C>T (p.Leu180=)
c.33C>T (p.Leu11=)
n.435C>T
c.414C>T (p.Leu138=)
c.482C>T
c.60C>T (p.Leu20=)
c.343C>T (n.343C>T)
c.536C>T
c.66C>T (p.Leu22=)
n.622C>T
n.835C>T
n.619C>T
n.478C>T
c.486C>T (p.Leu162=)
c.4810-110392C>T (n.4810-110392C>T)
n.603C>T
n.978C>T
n.576C>T
17g.46938665A=CA2262452862GOSR2,LRRC37A2c.544A= (p.Ile182=)
c.349A= (p.Ile117=)
c.538A= (p.Ile180=)
c.*9A= (n.*9A=)
c.490A= (p.Ile164=)
c.187A= (p.Ile63=)
c.297A=
c.400A= (p.Ile134=)
c.403A= (p.Ile135=)
c.541A= (p.Ile181=)
c.34A= (p.Ile12=)
n.436A=
c.415A= (p.Ile139=)
c.483A=
c.61A= (p.Ile21=)
c.344A= (n.344A=)
c.537A=
c.67A= (p.Ile23=)
n.623A=
n.836A=
n.620A=
n.479A=
c.487A= (p.Ile163=)
c.4810-110391A= (n.4810-110391A=)
n.604A=
n.979A=
n.577A=
17g.46938665A>CCA400019041GOSR2,LRRC37A2c.544A>C (p.Ile182Leu)
c.349A>C (p.Ile117Leu)
c.538A>C (p.Ile180Leu)
c.*9A>C (n.*9A>C)
c.490A>C (p.Ile164Leu)
c.187A>C (p.Ile63Leu)
c.297A>C
c.400A>C (p.Ile134Leu)
c.403A>C (p.Ile135Leu)
c.541A>C (p.Ile181Leu)
c.34A>C (p.Ile12Leu)
n.436A>C
c.415A>C (p.Ile139Leu)
c.483A>C
c.61A>C (p.Ile21Leu)
c.344A>C (n.344A>C)
c.537A>C
c.67A>C (p.Ile23Leu)
n.623A>C
n.836A>C
n.620A>C
n.479A>C
c.487A>C (p.Ile163Leu)
c.4810-110391A>C (n.4810-110391A>C)
n.604A>C
n.979A>C
n.577A>C
17g.46938665A>GCA400019042GOSR2,LRRC37A2c.544A>G (p.Ile182Val)
c.349A>G (p.Ile117Val)
c.538A>G (p.Ile180Val)
c.*9A>G (n.*9A>G)
c.490A>G (p.Ile164Val)
c.187A>G (p.Ile63Val)
c.297A>G
c.400A>G (p.Ile134Val)
c.403A>G (p.Ile135Val)
c.541A>G (p.Ile181Val)
c.34A>G (p.Ile12Val)
n.436A>G
c.415A>G (p.Ile139Val)
c.483A>G
c.61A>G (p.Ile21Val)
c.344A>G (n.344A>G)
c.537A>G
c.67A>G (p.Ile23Val)
n.623A>G
n.836A>G
n.620A>G
n.479A>G
c.487A>G (p.Ile163Val)
c.4810-110391A>G (n.4810-110391A>G)
n.604A>G
n.979A>G
n.577A>G
 dbSNP gnomAD v2
17g.46938665A>TCA400019043GOSR2,LRRC37A2c.544A>T (p.Ile182Phe)
c.349A>T (p.Ile117Phe)
c.538A>T (p.Ile180Phe)
c.*9A>T (n.*9A>T)
c.490A>T (p.Ile164Phe)
c.187A>T (p.Ile63Phe)
c.297A>T
c.400A>T (p.Ile134Phe)
c.403A>T (p.Ile135Phe)
c.541A>T (p.Ile181Phe)
c.34A>T (p.Ile12Phe)
n.436A>T
c.415A>T (p.Ile139Phe)
c.483A>T
c.61A>T (p.Ile21Phe)
c.344A>T (n.344A>T)
c.537A>T
c.67A>T (p.Ile23Phe)
n.623A>T
n.836A>T
n.620A>T
n.479A>T
c.487A>T (p.Ile163Phe)
c.4810-110391A>T (n.4810-110391A>T)
n.604A>T
n.979A>T
n.577A>T
17g.46938666T>ACA400019046GOSR2,LRRC37A2c.545T>A (p.Ile182Asn)
c.350T>A (p.Ile117Asn)
c.539T>A (p.Ile180Asn)
c.*10T>A (n.*10T>A)
c.491T>A (p.Ile164Asn)
c.188T>A (p.Ile63Asn)
c.298T>A
c.401T>A (p.Ile134Asn)
c.404T>A (p.Ile135Asn)
c.542T>A (p.Ile181Asn)
c.35T>A (p.Ile12Asn)
n.437T>A
c.416T>A (p.Ile139Asn)
c.484T>A
c.62T>A (p.Ile21Asn)
c.345T>A (n.345T>A)
c.538T>A
c.68T>A (p.Ile23Asn)
n.624T>A
n.837T>A
n.621T>A
n.480T>A
c.488T>A (p.Ile163Asn)
c.4810-110390T>A (n.4810-110390T>A)
n.605T>A
n.980T>A
n.578T>A
17g.46938666T>CCA400019044GOSR2,LRRC37A2c.545T>C (p.Ile182Thr)
c.350T>C (p.Ile117Thr)
c.539T>C (p.Ile180Thr)
c.*10T>C (n.*10T>C)
c.491T>C (p.Ile164Thr)
c.188T>C (p.Ile63Thr)
c.298T>C
c.401T>C (p.Ile134Thr)
c.404T>C (p.Ile135Thr)
c.542T>C (p.Ile181Thr)
c.35T>C (p.Ile12Thr)
n.437T>C
c.416T>C (p.Ile139Thr)
c.484T>C
c.62T>C (p.Ile21Thr)
c.345T>C (n.345T>C)
c.538T>C
c.68T>C (p.Ile23Thr)
n.624T>C
n.837T>C
n.621T>C
n.480T>C
c.488T>C (p.Ile163Thr)
c.4810-110390T>C (n.4810-110390T>C)
n.605T>C
n.980T>C
n.578T>C
17g.46938666T>GCA400019045GOSR2,LRRC37A2c.545T>G (p.Ile182Ser)
c.350T>G (p.Ile117Ser)
c.539T>G (p.Ile180Ser)
c.*10T>G (n.*10T>G)
c.491T>G (p.Ile164Ser)
c.188T>G (p.Ile63Ser)
c.298T>G
c.401T>G (p.Ile134Ser)
c.404T>G (p.Ile135Ser)
c.542T>G (p.Ile181Ser)
c.35T>G (p.Ile12Ser)
n.437T>G
c.416T>G (p.Ile139Ser)
c.484T>G
c.62T>G (p.Ile21Ser)
c.345T>G (n.345T>G)
c.538T>G
c.68T>G (p.Ile23Ser)
n.624T>G
n.837T>G
n.621T>G
n.480T>G
c.488T>G (p.Ile163Ser)
c.4810-110390T>G (n.4810-110390T>G)
n.605T>G
n.980T>G
n.578T>G
17g.46938667C>ACA500414686GOSR2,LRRC37A2c.546C>A (p.Ile182=)
c.351C>A (p.Ile117=)
c.540C>A (p.Ile180=)
c.*11C>A (n.*11C>A)
c.492C>A (p.Ile164=)
c.189C>A (p.Ile63=)
c.299C>A
c.402C>A (p.Ile134=)
c.405C>A (p.Ile135=)
c.543C>A (p.Ile181=)
c.36C>A (p.Ile12=)
n.438C>A
c.417C>A (p.Ile139=)
c.485C>A
c.63C>A (p.Ile21=)
c.346C>A (n.346C>A)
c.539C>A
c.69C>A (p.Ile23=)
n.625C>A
n.838C>A
n.622C>A
n.481C>A
c.489C>A (p.Ile163=)
c.4810-110389C>A (n.4810-110389C>A)
n.606C>A
n.981C>A
n.579C>A
17g.46938667C=CA2262452863GOSR2,LRRC37A2c.546C= (p.Ile182=)
c.351C= (p.Ile117=)
c.540C= (p.Ile180=)
c.*11C= (n.*11C=)
c.492C= (p.Ile164=)
c.189C= (p.Ile63=)
c.299C=
c.402C= (p.Ile134=)
c.405C= (p.Ile135=)
c.543C= (p.Ile181=)
c.36C= (p.Ile12=)
n.438C=
c.417C= (p.Ile139=)
c.485C=
c.63C= (p.Ile21=)
c.346C= (n.346C=)
c.539C=
c.69C= (p.Ile23=)
n.625C=
n.838C=
n.622C=
n.481C=
c.489C= (p.Ile163=)
c.4810-110389C= (n.4810-110389C=)
n.606C=
n.981C=
n.579C=
17g.46938667C>GCA400019047GOSR2,LRRC37A2c.546C>G (p.Ile182Met)
c.351C>G (p.Ile117Met)
c.540C>G (p.Ile180Met)
c.*11C>G (n.*11C>G)
c.492C>G (p.Ile164Met)
c.189C>G (p.Ile63Met)
c.299C>G
c.402C>G (p.Ile134Met)
c.405C>G (p.Ile135Met)
c.543C>G (p.Ile181Met)
c.36C>G (p.Ile12Met)
n.438C>G
c.417C>G (p.Ile139Met)
c.485C>G
c.63C>G (p.Ile21Met)
c.346C>G (n.346C>G)
c.539C>G
c.69C>G (p.Ile23Met)
n.625C>G
n.838C>G
n.622C>G
n.481C>G
c.489C>G (p.Ile163Met)
c.4810-110389C>G (n.4810-110389C>G)
n.606C>G
n.981C>G
n.579C>G
 gnomAD v4
17g.46938667C>TCA16607333GOSR2,LRRC37A2c.546C>T (p.Ile182=)
c.351C>T (p.Ile117=)
c.540C>T (p.Ile180=)
c.*11C>T (n.*11C>T)
c.492C>T (p.Ile164=)
c.189C>T (p.Ile63=)
c.299C>T
c.402C>T (p.Ile134=)
c.405C>T (p.Ile135=)
c.543C>T (p.Ile181=)
c.36C>T (p.Ile12=)
n.438C>T
c.417C>T (p.Ile139=)
c.485C>T
c.63C>T (p.Ile21=)
c.346C>T (n.346C>T)
c.539C>T
c.69C>T (p.Ile23=)
n.625C>T
n.838C>T
n.622C>T
n.481C>T
c.489C>T (p.Ile163=)
c.4810-110389C>T (n.4810-110389C>T)
n.606C>T
n.981C>T
n.579C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46938668delCA2638414331GOSR2,LRRC37A2c.547del (p.Glu183ArgfsTer11)
c.352del (p.Glu118ArgfsTer11)
c.541del (p.Glu181ArgfsTer11)
c.*12del (n.*12del)
c.493del (p.Glu165ArgfsTer11)
c.190del (p.Glu64ArgfsTer11)
c.300del
c.403del (p.Glu135ArgfsTer11)
c.406del (p.Glu136ArgfsTer11)
c.544del (p.Glu182ArgfsTer11)
c.37del (p.Glu13ArgfsTer11)
n.439del
c.418del (p.Glu140ArgfsTer11)
c.486del
c.64del (p.Glu22ArgfsTer11)
c.347del (n.347del)
c.540del
c.70del (p.Glu24ArgfsTer11)
n.626del
n.839del
n.623del
n.482del
c.490del (p.Glu164ArgfsTer11)
c.4810-110388del (n.4810-110388del)
n.607del
n.982del
n.580del
 gnomAD v4
17g.46938668G>ACA8621353GOSR2,LRRC37A2c.547G>A (p.Glu183Lys)
c.352G>A (p.Glu118Lys)
c.541G>A (p.Glu181Lys)
c.*12G>A (n.*12G>A)
c.493G>A (p.Glu165Lys)
c.190G>A (p.Glu64Lys)
c.300G>A
c.403G>A (p.Glu135Lys)
c.406G>A (p.Glu136Lys)
c.544G>A (p.Glu182Lys)
c.37G>A (p.Glu13Lys)
n.439G>A
c.418G>A (p.Glu140Lys)
c.486G>A
c.64G>A (p.Glu22Lys)
c.347G>A (n.347G>A)
c.540G>A
c.70G>A (p.Glu24Lys)
n.626G>A
n.839G>A
n.623G>A
n.482G>A
c.490G>A (p.Glu164Lys)
c.4810-110388G>A (n.4810-110388G>A)
n.607G>A
n.982G>A
n.580G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938668G>CCA400019048GOSR2,LRRC37A2c.547G>C (p.Glu183Gln)
c.352G>C (p.Glu118Gln)
c.541G>C (p.Glu181Gln)
c.*12G>C (n.*12G>C)
c.493G>C (p.Glu165Gln)
c.190G>C (p.Glu64Gln)
c.300G>C
c.403G>C (p.Glu135Gln)
c.406G>C (p.Glu136Gln)
c.544G>C (p.Glu182Gln)
c.37G>C (p.Glu13Gln)
n.439G>C
c.418G>C (p.Glu140Gln)
c.486G>C
c.64G>C (p.Glu22Gln)
c.347G>C (n.347G>C)
c.540G>C
c.70G>C (p.Glu24Gln)
n.626G>C
n.839G>C
n.623G>C
n.482G>C
c.490G>C (p.Glu164Gln)
c.4810-110388G>C (n.4810-110388G>C)
n.607G>C
n.982G>C
n.580G>C
17g.46938668G=CA2262452864GOSR2,LRRC37A2c.547G= (p.Glu183=)
c.352G= (p.Glu118=)
c.541G= (p.Glu181=)
c.*12G= (n.*12G=)
c.493G= (p.Glu165=)
c.190G= (p.Glu64=)
c.300G=
c.403G= (p.Glu135=)
c.406G= (p.Glu136=)
c.544G= (p.Glu182=)
c.37G= (p.Glu13=)
n.439G=
c.418G= (p.Glu140=)
c.486G=
c.64G= (p.Glu22=)
c.347G= (n.347G=)
c.540G=
c.70G= (p.Glu24=)
n.626G=
n.839G=
n.623G=
n.482G=
c.490G= (p.Glu164=)
c.4810-110388G= (n.4810-110388G=)
n.607G=
n.982G=
n.580G=
17g.46938668G>TCA400019049GOSR2,LRRC37A2c.547G>T (p.Glu183Ter)
c.352G>T (p.Glu118Ter)
c.541G>T (p.Glu181Ter)
c.*12G>T (n.*12G>T)
c.493G>T (p.Glu165Ter)
c.190G>T (p.Glu64Ter)
c.300G>T
c.403G>T (p.Glu135Ter)
c.406G>T (p.Glu136Ter)
c.544G>T (p.Glu182Ter)
c.37G>T (p.Glu13Ter)
n.439G>T
c.418G>T (p.Glu140Ter)
c.486G>T
c.64G>T (p.Glu22Ter)
c.347G>T (n.347G>T)
c.540G>T
c.70G>T (p.Glu24Ter)
n.626G>T
n.839G>T
n.623G>T
n.482G>T
c.490G>T (p.Glu164Ter)
c.4810-110388G>T (n.4810-110388G>T)
n.607G>T
n.982G>T
n.580G>T
17g.46938669A>CCA400019050GOSR2,LRRC37A2c.548A>C (p.Glu183Ala)
c.353A>C (p.Glu118Ala)
c.542A>C (p.Glu181Ala)
c.*13A>C (n.*13A>C)
c.494A>C (p.Glu165Ala)
c.191A>C (p.Glu64Ala)
c.301A>C
c.404A>C (p.Glu135Ala)
c.407A>C (p.Glu136Ala)
c.545A>C (p.Glu182Ala)
c.38A>C (p.Glu13Ala)
n.440A>C
c.419A>C (p.Glu140Ala)
c.487A>C
c.65A>C (p.Glu22Ala)
c.348A>C (n.348A>C)
c.541A>C
c.71A>C (p.Glu24Ala)
n.627A>C
n.840A>C
n.624A>C
n.483A>C
c.491A>C (p.Glu164Ala)
c.4810-110387A>C (n.4810-110387A>C)
n.608A>C
n.983A>C
n.581A>C
17g.46938669A>GCA400019051GOSR2,LRRC37A2c.548A>G (p.Glu183Gly)
c.353A>G (p.Glu118Gly)
c.542A>G (p.Glu181Gly)
c.*13A>G (n.*13A>G)
c.494A>G (p.Glu165Gly)
c.191A>G (p.Glu64Gly)
c.301A>G
c.404A>G (p.Glu135Gly)
c.407A>G (p.Glu136Gly)
c.545A>G (p.Glu182Gly)
c.38A>G (p.Glu13Gly)
n.440A>G
c.419A>G (p.Glu140Gly)
c.487A>G
c.65A>G (p.Glu22Gly)
c.348A>G (n.348A>G)
c.541A>G
c.71A>G (p.Glu24Gly)
n.627A>G
n.840A>G
n.624A>G
n.483A>G
c.491A>G (p.Glu164Gly)
c.4810-110387A>G (n.4810-110387A>G)
n.608A>G
n.983A>G
n.581A>G
17g.46938669A>TCA400019052GOSR2,LRRC37A2c.548A>T (p.Glu183Val)
c.353A>T (p.Glu118Val)
c.542A>T (p.Glu181Val)
c.*13A>T (n.*13A>T)
c.494A>T (p.Glu165Val)
c.191A>T (p.Glu64Val)
c.301A>T
c.404A>T (p.Glu135Val)
c.407A>T (p.Glu136Val)
c.545A>T (p.Glu182Val)
c.38A>T (p.Glu13Val)
n.440A>T
c.419A>T (p.Glu140Val)
c.487A>T
c.65A>T (p.Glu22Val)
c.348A>T (n.348A>T)
c.541A>T
c.71A>T (p.Glu24Val)
n.627A>T
n.840A>T
n.624A>T
n.483A>T
c.491A>T (p.Glu164Val)
c.4810-110387A>T (n.4810-110387A>T)
n.608A>T
n.983A>T
n.581A>T
17g.46938670G>ACA500414700GOSR2,LRRC37A2c.549G>A (p.Glu183=)
c.354G>A (p.Glu118=)
c.543G>A (p.Glu181=)
c.*14G>A (n.*14G>A)
c.495G>A (p.Glu165=)
c.192G>A (p.Glu64=)
c.302G>A
c.405G>A (p.Glu135=)
c.408G>A (p.Glu136=)
c.546G>A (p.Glu182=)
c.39G>A (p.Glu13=)
n.441G>A
c.420G>A (p.Glu140=)
c.488G>A
c.66G>A (p.Glu22=)
c.349G>A (n.349G>A)
c.542G>A
c.72G>A (p.Glu24=)
n.628G>A
n.841G>A
n.625G>A
n.484G>A
c.492G>A (p.Glu164=)
c.4810-110386G>A (n.4810-110386G>A)
n.609G>A
n.984G>A
n.582G>A
17g.46938670G>CCA400019053GOSR2,LRRC37A2c.549G>C (p.Glu183Asp)
c.354G>C (p.Glu118Asp)
c.543G>C (p.Glu181Asp)
c.*14G>C (n.*14G>C)
c.495G>C (p.Glu165Asp)
c.192G>C (p.Glu64Asp)
c.302G>C
c.405G>C (p.Glu135Asp)
c.408G>C (p.Glu136Asp)
c.546G>C (p.Glu182Asp)
c.39G>C (p.Glu13Asp)
n.441G>C
c.420G>C (p.Glu140Asp)
c.488G>C
c.66G>C (p.Glu22Asp)
c.349G>C (n.349G>C)
c.542G>C
c.72G>C (p.Glu24Asp)
n.628G>C
n.841G>C
n.625G>C
n.484G>C
c.492G>C (p.Glu164Asp)
c.4810-110386G>C (n.4810-110386G>C)
n.609G>C
n.984G>C
n.582G>C
17g.46938670G>TCA400019054GOSR2,LRRC37A2c.549G>T (p.Glu183Asp)
c.354G>T (p.Glu118Asp)
c.543G>T (p.Glu181Asp)
c.*14G>T (n.*14G>T)
c.495G>T (p.Glu165Asp)
c.192G>T (p.Glu64Asp)
c.302G>T
c.405G>T (p.Glu135Asp)
c.408G>T (p.Glu136Asp)
c.546G>T (p.Glu182Asp)
c.39G>T (p.Glu13Asp)
n.441G>T
c.420G>T (p.Glu140Asp)
c.488G>T
c.66G>T (p.Glu22Asp)
c.349G>T (n.349G>T)
c.542G>T
c.72G>T (p.Glu24Asp)
n.628G>T
n.841G>T
n.625G>T
n.484G>T
c.492G>T (p.Glu164Asp)
c.4810-110386G>T (n.4810-110386G>T)
n.609G>T
n.984G>T
n.582G>T
17g.46938670_46938678delCA2638414340GOSR2,LRRC37A2c.549_557del (p.Glu183_Ala186delinsAsp)
c.354_362del (p.Glu118_Ala121delinsAsp)
c.543_551del (p.Glu181_Ala184delinsAsp)
c.*14_*22del (n.*14_*22del)
c.495_503del (p.Glu165_Ala168delinsAsp)
c.192_200del (p.Glu64_Ala67delinsAsp)
c.302_310del
c.405_413del (p.Glu135_Ala138delinsAsp)
c.408_416del (p.Glu136_Ala139delinsAsp)
c.546_554del (p.Glu182_Ala185delinsAsp)
c.39_47del (p.Glu13_Ala16delinsAsp)
n.441_449del
c.420_428del (p.Glu140_Ala143delinsAsp)
c.488_496del
c.66_74del (p.Glu22_Ala25delinsAsp)
c.349_357del (n.349_357del)
c.542_550del
c.72_80del (p.Glu24_Ala27delinsAsp)
n.628_636del
n.841_849del
n.625_633del
n.484_492del
c.492_500del (p.Glu164_Ala167delinsAsp)
c.4810-110386_4810-110378del (n.4810-110386_4810-110378del)
n.609_617del
n.984_992del
n.582_590del
 gnomAD v4
17g.46938671A>CCA400019055GOSR2,LRRC37A2c.550A>C (p.Lys184Gln)
c.355A>C (p.Lys119Gln)
c.544A>C (p.Lys182Gln)
c.*15A>C (n.*15A>C)
c.496A>C (p.Lys166Gln)
c.193A>C (p.Lys65Gln)
c.303A>C
c.406A>C (p.Lys136Gln)
c.409A>C (p.Lys137Gln)
c.547A>C (p.Lys183Gln)
c.40A>C (p.Lys14Gln)
n.442A>C
c.421A>C (p.Lys141Gln)
c.489A>C
c.67A>C (p.Lys23Gln)
c.350A>C (n.350A>C)
c.543A>C
c.73A>C (p.Lys25Gln)
n.629A>C
n.842A>C
n.626A>C
n.485A>C
c.493A>C (p.Lys165Gln)
c.4810-110385A>C (n.4810-110385A>C)
n.610A>C
n.985A>C
n.583A>C
17g.46938671A>GCA400019056GOSR2,LRRC37A2c.550A>G (p.Lys184Glu)
c.355A>G (p.Lys119Glu)
c.544A>G (p.Lys182Glu)
c.*15A>G (n.*15A>G)
c.496A>G (p.Lys166Glu)
c.193A>G (p.Lys65Glu)
c.303A>G
c.406A>G (p.Lys136Glu)
c.409A>G (p.Lys137Glu)
c.547A>G (p.Lys183Glu)
c.40A>G (p.Lys14Glu)
n.442A>G
c.421A>G (p.Lys141Glu)
c.489A>G
c.67A>G (p.Lys23Glu)
c.350A>G (n.350A>G)
c.543A>G
c.73A>G (p.Lys25Glu)
n.629A>G
n.842A>G
n.626A>G
n.485A>G
c.493A>G (p.Lys165Glu)
c.4810-110385A>G (n.4810-110385A>G)
n.610A>G
n.985A>G
n.583A>G
17g.46938671A>TCA400019057GOSR2,LRRC37A2c.550A>T (p.Lys184Ter)
c.355A>T (p.Lys119Ter)
c.544A>T (p.Lys182Ter)
c.*15A>T (n.*15A>T)
c.496A>T (p.Lys166Ter)
c.193A>T (p.Lys65Ter)
c.303A>T
c.406A>T (p.Lys136Ter)
c.409A>T (p.Lys137Ter)
c.547A>T (p.Lys183Ter)
c.40A>T (p.Lys14Ter)
n.442A>T
c.421A>T (p.Lys141Ter)
c.489A>T
c.67A>T (p.Lys23Ter)
c.350A>T (n.350A>T)
c.543A>T
c.73A>T (p.Lys25Ter)
n.629A>T
n.842A>T
n.626A>T
n.485A>T
c.493A>T (p.Lys165Ter)
c.4810-110385A>T (n.4810-110385A>T)
n.610A>T
n.985A>T
n.583A>T
 gnomAD v4
17g.46938672A>CCA400019058GOSR2,LRRC37A2c.551A>C (p.Lys184Thr)
c.356A>C (p.Lys119Thr)
c.545A>C (p.Lys182Thr)
c.*16A>C (n.*16A>C)
c.497A>C (p.Lys166Thr)
c.194A>C (p.Lys65Thr)
c.304A>C
c.407A>C (p.Lys136Thr)
c.410A>C (p.Lys137Thr)
c.548A>C (p.Lys183Thr)
c.41A>C (p.Lys14Thr)
n.443A>C
c.422A>C (p.Lys141Thr)
c.490A>C
c.68A>C (p.Lys23Thr)
c.351A>C (n.351A>C)
c.544A>C
c.74A>C (p.Lys25Thr)
n.630A>C
n.843A>C
n.627A>C
n.486A>C
c.494A>C (p.Lys165Thr)
c.4810-110384A>C (n.4810-110384A>C)
n.611A>C
n.986A>C
n.584A>C
17g.46938672A>GCA400019060GOSR2,LRRC37A2c.551A>G (p.Lys184Arg)
c.356A>G (p.Lys119Arg)
c.545A>G (p.Lys182Arg)
c.*16A>G (n.*16A>G)
c.497A>G (p.Lys166Arg)
c.194A>G (p.Lys65Arg)
c.304A>G
c.407A>G (p.Lys136Arg)
c.410A>G (p.Lys137Arg)
c.548A>G (p.Lys183Arg)
c.41A>G (p.Lys14Arg)
n.443A>G
c.422A>G (p.Lys141Arg)
c.490A>G
c.68A>G (p.Lys23Arg)
c.351A>G (n.351A>G)
c.544A>G
c.74A>G (p.Lys25Arg)
n.630A>G
n.843A>G
n.627A>G
n.486A>G
c.494A>G (p.Lys165Arg)
c.4810-110384A>G (n.4810-110384A>G)
n.611A>G
n.986A>G
n.584A>G
17g.46938672A>TCA400019059GOSR2,LRRC37A2c.551A>T (p.Lys184Met)
c.356A>T (p.Lys119Met)
c.545A>T (p.Lys182Met)
c.*16A>T (n.*16A>T)
c.497A>T (p.Lys166Met)
c.194A>T (p.Lys65Met)
c.304A>T
c.407A>T (p.Lys136Met)
c.410A>T (p.Lys137Met)
c.548A>T (p.Lys183Met)
c.41A>T (p.Lys14Met)
n.443A>T
c.422A>T (p.Lys141Met)
c.490A>T
c.68A>T (p.Lys23Met)
c.351A>T (n.351A>T)
c.544A>T
c.74A>T (p.Lys25Met)
n.630A>T
n.843A>T
n.627A>T
n.486A>T
c.494A>T (p.Lys165Met)
c.4810-110384A>T (n.4810-110384A>T)
n.611A>T
n.986A>T
n.584A>T
17g.46938673G>ACA500414709GOSR2,LRRC37A2c.552G>A (p.Lys184=)
c.357G>A (p.Lys119=)
c.546G>A (p.Lys182=)
c.*17G>A (n.*17G>A)
c.498G>A (p.Lys166=)
c.195G>A (p.Lys65=)
c.305G>A
c.408G>A (p.Lys136=)
c.411G>A (p.Lys137=)
c.549G>A (p.Lys183=)
c.42G>A (p.Lys14=)
n.444G>A
c.423G>A (p.Lys141=)
c.491G>A
c.69G>A (p.Lys23=)
c.352G>A (n.352G>A)
c.545G>A
c.75G>A (p.Lys25=)
n.631G>A
n.844G>A
n.628G>A
n.487G>A
c.495G>A (p.Lys165=)
c.4810-110383G>A (n.4810-110383G>A)
n.612G>A
n.987G>A
n.585G>A
17g.46938673G>CCA400019061GOSR2,LRRC37A2c.552G>C (p.Lys184Asn)
c.357G>C (p.Lys119Asn)
c.546G>C (p.Lys182Asn)
c.*17G>C (n.*17G>C)
c.498G>C (p.Lys166Asn)
c.195G>C (p.Lys65Asn)
c.305G>C
c.408G>C (p.Lys136Asn)
c.411G>C (p.Lys137Asn)
c.549G>C (p.Lys183Asn)
c.42G>C (p.Lys14Asn)
n.444G>C
c.423G>C (p.Lys141Asn)
c.491G>C
c.69G>C (p.Lys23Asn)
c.352G>C (n.352G>C)
c.545G>C
c.75G>C (p.Lys25Asn)
n.631G>C
n.844G>C
n.628G>C
n.487G>C
c.495G>C (p.Lys165Asn)
c.4810-110383G>C (n.4810-110383G>C)
n.612G>C
n.987G>C
n.585G>C
17g.46938673G=CA2262452865GOSR2,LRRC37A2c.552G= (p.Lys184=)
c.357G= (p.Lys119=)
c.546G= (p.Lys182=)
c.*17G= (n.*17G=)
c.498G= (p.Lys166=)
c.195G= (p.Lys65=)
c.305G=
c.408G= (p.Lys136=)
c.411G= (p.Lys137=)
c.549G= (p.Lys183=)
c.42G= (p.Lys14=)
n.444G=
c.423G= (p.Lys141=)
c.491G=
c.69G= (p.Lys23=)
c.352G= (n.352G=)
c.545G=
c.75G= (p.Lys25=)
n.631G=
n.844G=
n.628G=
n.487G=
c.495G= (p.Lys165=)
c.4810-110383G= (n.4810-110383G=)
n.612G=
n.987G=
n.585G=
17g.46938673G>TCA8621354GOSR2,LRRC37A2c.552G>T (p.Lys184Asn)
c.357G>T (p.Lys119Asn)
c.546G>T (p.Lys182Asn)
c.*17G>T (n.*17G>T)
c.498G>T (p.Lys166Asn)
c.195G>T (p.Lys65Asn)
c.305G>T
c.408G>T (p.Lys136Asn)
c.411G>T (p.Lys137Asn)
c.549G>T (p.Lys183Asn)
c.42G>T (p.Lys14Asn)
n.444G>T
c.423G>T (p.Lys141Asn)
c.491G>T
c.69G>T (p.Lys23Asn)
c.352G>T (n.352G>T)
c.545G>T
c.75G>T (p.Lys25Asn)
n.631G>T
n.844G>T
n.628G>T
n.487G>T
c.495G>T (p.Lys165Asn)
c.4810-110383G>T (n.4810-110383G>T)
n.612G>T
n.987G>T
n.585G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938674C>ACA500414711GOSR2,LRRC37A2c.553C>A (p.Arg185=)
c.358C>A (p.Arg120=)
c.547C>A (p.Arg183=)
c.*18C>A (n.*18C>A)
c.499C>A (p.Arg167=)
c.196C>A (p.Arg66=)
c.306C>A
c.409C>A (p.Arg137=)
c.412C>A (p.Arg138=)
c.550C>A (p.Arg184=)
c.43C>A (p.Arg15=)
n.445C>A
c.424C>A (p.Arg142=)
c.492C>A
c.70C>A (p.Arg24=)
c.353C>A (n.353C>A)
c.546C>A
c.76C>A (p.Arg26=)
n.632C>A
n.845C>A
n.629C>A
n.488C>A
c.496C>A (p.Arg166=)
c.4810-110382C>A (n.4810-110382C>A)
n.613C>A
n.988C>A
n.586C>A
17g.46938674C=CA2262452866GOSR2,LRRC37A2c.553C= (p.Arg185=)
c.358C= (p.Arg120=)
c.547C= (p.Arg183=)
c.*18C= (n.*18C=)
c.499C= (p.Arg167=)
c.196C= (p.Arg66=)
c.306C=
c.409C= (p.Arg137=)
c.412C= (p.Arg138=)
c.550C= (p.Arg184=)
c.43C= (p.Arg15=)
n.445C=
c.424C= (p.Arg142=)
c.492C=
c.70C= (p.Arg24=)
c.353C= (n.353C=)
c.546C=
c.76C= (p.Arg26=)
n.632C=
n.845C=
n.629C=
n.488C=
c.496C= (p.Arg166=)
c.4810-110382C= (n.4810-110382C=)
n.613C=
n.988C=
n.586C=
17g.46938674C>GCA400019062GOSR2,LRRC37A2c.553C>G (p.Arg185Gly)
c.358C>G (p.Arg120Gly)
c.547C>G (p.Arg183Gly)
c.*18C>G (n.*18C>G)
c.499C>G (p.Arg167Gly)
c.196C>G (p.Arg66Gly)
c.306C>G
c.409C>G (p.Arg137Gly)
c.412C>G (p.Arg138Gly)
c.550C>G (p.Arg184Gly)
c.43C>G (p.Arg15Gly)
n.445C>G
c.424C>G (p.Arg142Gly)
c.492C>G
c.70C>G (p.Arg24Gly)
c.353C>G (n.353C>G)
c.546C>G
c.76C>G (p.Arg26Gly)
n.632C>G
n.845C>G
n.629C>G
n.488C>G
c.496C>G (p.Arg166Gly)
c.4810-110382C>G (n.4810-110382C>G)
n.613C>G
n.988C>G
n.586C>G
17g.46938674C>TCA8621355GOSR2,LRRC37A2c.553C>T (p.Arg185Trp)
c.358C>T (p.Arg120Trp)
c.547C>T (p.Arg183Trp)
c.*18C>T (n.*18C>T)
c.499C>T (p.Arg167Trp)
c.196C>T (p.Arg66Trp)
c.306C>T
c.409C>T (p.Arg137Trp)
c.412C>T (p.Arg138Trp)
c.550C>T (p.Arg184Trp)
c.43C>T (p.Arg15Trp)
n.445C>T
c.424C>T (p.Arg142Trp)
c.492C>T
c.70C>T (p.Arg24Trp)
c.353C>T (n.353C>T)
c.546C>T
c.76C>T (p.Arg26Trp)
n.632C>T
n.845C>T
n.629C>T
n.488C>T
c.496C>T (p.Arg166Trp)
c.4810-110382C>T (n.4810-110382C>T)
n.613C>T
n.988C>T
n.586C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46938675G>ACA400019063GOSR2,LRRC37A2c.554G>A (p.Arg185Gln)
c.359G>A (p.Arg120Gln)
c.548G>A (p.Arg183Gln)
c.*19G>A (n.*19G>A)
c.500G>A (p.Arg167Gln)
c.197G>A (p.Arg66Gln)
c.307G>A
c.410G>A (p.Arg137Gln)
c.413G>A (p.Arg138Gln)
c.551G>A (p.Arg184Gln)
c.44G>A (p.Arg15Gln)
n.446G>A
c.425G>A (p.Arg142Gln)
c.493G>A
c.71G>A (p.Arg24Gln)
c.354G>A (n.354G>A)
c.547G>A
c.77G>A (p.Arg26Gln)
n.633G>A
n.846G>A
n.630G>A
n.489G>A
c.497G>A (p.Arg166Gln)
c.4810-110381G>A (n.4810-110381G>A)
n.614G>A
n.989G>A
n.587G>A
 dbSNP gnomAD v4
17g.46938675G>CCA400019064GOSR2,LRRC37A2c.554G>C (p.Arg185Pro)
c.359G>C (p.Arg120Pro)
c.548G>C (p.Arg183Pro)
c.*19G>C (n.*19G>C)
c.500G>C (p.Arg167Pro)
c.197G>C (p.Arg66Pro)
c.307G>C
c.410G>C (p.Arg137Pro)
c.413G>C (p.Arg138Pro)
c.551G>C (p.Arg184Pro)
c.44G>C (p.Arg15Pro)
n.446G>C
c.425G>C (p.Arg142Pro)
c.493G>C
c.71G>C (p.Arg24Pro)
c.354G>C (n.354G>C)
c.547G>C
c.77G>C (p.Arg26Pro)
n.633G>C
n.846G>C
n.630G>C
n.489G>C
c.497G>C (p.Arg166Pro)
c.4810-110381G>C (n.4810-110381G>C)
n.614G>C
n.989G>C
n.587G>C
17g.46938675G=CA2262452868GOSR2,LRRC37A2c.554G= (p.Arg185=)
c.359G= (p.Arg120=)
c.548G= (p.Arg183=)
c.*19G= (n.*19G=)
c.500G= (p.Arg167=)
c.197G= (p.Arg66=)
c.307G=
c.410G= (p.Arg137=)
c.413G= (p.Arg138=)
c.551G= (p.Arg184=)
c.44G= (p.Arg15=)
n.446G=
c.425G= (p.Arg142=)
c.493G=
c.71G= (p.Arg24=)
c.354G= (n.354G=)
c.547G=
c.77G= (p.Arg26=)
n.633G=
n.846G=
n.630G=
n.489G=
c.497G= (p.Arg166=)
c.4810-110381G= (n.4810-110381G=)
n.614G=
n.989G=
n.587G=
17g.46938675G>TCA400019065GOSR2,LRRC37A2c.554G>T (p.Arg185Leu)
c.359G>T (p.Arg120Leu)
c.548G>T (p.Arg183Leu)
c.*19G>T (n.*19G>T)
c.500G>T (p.Arg167Leu)
c.197G>T (p.Arg66Leu)
c.307G>T
c.410G>T (p.Arg137Leu)
c.413G>T (p.Arg138Leu)
c.551G>T (p.Arg184Leu)
c.44G>T (p.Arg15Leu)
n.446G>T
c.425G>T (p.Arg142Leu)
c.493G>T
c.71G>T (p.Arg24Leu)
c.354G>T (n.354G>T)
c.547G>T
c.77G>T (p.Arg26Leu)
n.633G>T
n.846G>T
n.630G>T
n.489G>T
c.497G>T (p.Arg166Leu)
c.4810-110381G>T (n.4810-110381G>T)
n.614G>T
n.989G>T
n.587G>T
17g.46938675_46938703delinsGGGCTTTCCAGGACAAGTACTTTATGATACA2262452867GOSR2,LRRC37A2c.554_582delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg185=)
c.359_387delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg120=)
c.548_576delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg183=)
c.*19_*47delinsGGGCTTTCCAGGACAAGTACTTTATGATA (n.*19_*47delinsGGGCTTTCCAGGACAAGTACTTTATGATA)
c.500_528delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg167=)
c.197_225delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg66=)
c.307_335delinsGGGCTTTCCAGGACAAGTACTTTATGATA
c.410_438delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg137=)
c.413_441delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg138=)
c.551_579delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg184=)
c.44_72delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg15=)
n.446_474delinsGGGCTTTCCAGGACAAGTACTTTATGATA
c.425_453delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg142=)
c.493_521delinsGGGCTTTCCAGGACAAGTACTTTATGATA
c.71_99delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg24=)
c.354_382delinsGGGCTTTCCAGGACAAGTACTTTATGATA (n.354_382delinsGGGCTTTCCAGGACAAGTACTTTATGATA)
c.547_575delinsGGGCTTTCCAGGACAAGTACTTTATGATA
c.77_105delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg26=)
n.633_661delinsGGGCTTTCCAGGACAAGTACTTTATGATA
n.846_874delinsGGGCTTTCCAGGACAAGTACTTTATGATA
n.630_658delinsGGGCTTTCCAGGACAAGTACTTTATGATA
n.489_517delinsGGGCTTTCCAGGACAAGTACTTTATGATA
c.497_525delinsGGGCTTTCCAGGACAAGTACTTTATGATA (p.Arg166=)
c.4810-110381_4810-110353delinsGGGCTTTCCAGGACAAGTACTTTATGATA (n.4810-110381_4810-110353delinsGGGCTTTCCAGGACAAGTACTTTATGATA)
n.614_642delinsGGGCTTTCCAGGACAAGTACTTTATGATA
n.989_1017delinsGGGCTTTCCAGGACAAGTACTTTATGATA
n.587_615delinsGGGCTTTCCAGGACAAGTACTTTATGATA
17g.46938676G>ACA500414720GOSR2,LRRC37A2c.555G>A (p.Arg185=)
c.360G>A (p.Arg120=)
c.549G>A (p.Arg183=)
c.*20G>A (n.*20G>A)
c.501G>A (p.Arg167=)
c.198G>A (p.Arg66=)
c.308G>A
c.411G>A (p.Arg137=)
c.414G>A (p.Arg138=)
c.552G>A (p.Arg184=)
c.45G>A (p.Arg15=)
n.447G>A
c.426G>A (p.Arg142=)
c.494G>A
c.72G>A (p.Arg24=)
c.355G>A (n.355G>A)
c.548G>A
c.78G>A (p.Arg26=)
n.634G>A
n.847G>A
n.631G>A
n.490G>A
c.498G>A (p.Arg166=)
c.4810-110380G>A (n.4810-110380G>A)
n.615G>A
n.990G>A
n.588G>A
 dbSNP
17g.46938676G>CCA500414718GOSR2,LRRC37A2c.555G>C (p.Arg185=)
c.360G>C (p.Arg120=)
c.549G>C (p.Arg183=)
c.*20G>C (n.*20G>C)
c.501G>C (p.Arg167=)
c.198G>C (p.Arg66=)
c.308G>C
c.411G>C (p.Arg137=)
c.414G>C (p.Arg138=)
c.552G>C (p.Arg184=)
c.45G>C (p.Arg15=)
n.447G>C
c.426G>C (p.Arg142=)
c.494G>C
c.72G>C (p.Arg24=)
c.355G>C (n.355G>C)
c.548G>C
c.78G>C (p.Arg26=)
n.634G>C
n.847G>C
n.631G>C
n.490G>C
c.498G>C (p.Arg166=)
c.4810-110380G>C (n.4810-110380G>C)
n.615G>C
n.990G>C
n.588G>C
17g.46938676G=CA2262452869GOSR2,LRRC37A2c.555G= (p.Arg185=)
c.360G= (p.Arg120=)
c.549G= (p.Arg183=)
c.*20G= (n.*20G=)
c.501G= (p.Arg167=)
c.198G= (p.Arg66=)
c.308G=
c.411G= (p.Arg137=)
c.414G= (p.Arg138=)
c.552G= (p.Arg184=)
c.45G= (p.Arg15=)
n.447G=
c.426G= (p.Arg142=)
c.494G=
c.72G= (p.Arg24=)
c.355G= (n.355G=)
c.548G=
c.78G= (p.Arg26=)
n.634G=
n.847G=
n.631G=
n.490G=
c.498G= (p.Arg166=)
c.4810-110380G= (n.4810-110380G=)
n.615G=
n.990G=
n.588G=
17g.46938676G>TCA500414722GOSR2,LRRC37A2c.555G>T (p.Arg185=)
c.360G>T (p.Arg120=)
c.549G>T (p.Arg183=)
c.*20G>T (n.*20G>T)
c.501G>T (p.Arg167=)
c.198G>T (p.Arg66=)
c.308G>T
c.411G>T (p.Arg137=)
c.414G>T (p.Arg138=)
c.552G>T (p.Arg184=)
c.45G>T (p.Arg15=)
n.447G>T
c.426G>T (p.Arg142=)
c.494G>T
c.72G>T (p.Arg24=)
c.355G>T (n.355G>T)
c.548G>T
c.78G>T (p.Arg26=)
n.634G>T
n.847G>T
n.631G>T
n.490G>T
c.498G>T (p.Arg166=)
c.4810-110380G>T (n.4810-110380G>T)
n.615G>T
n.990G>T
n.588G>T
17g.46938678_46938705delCA314910GOSR2,LRRC37A2c.557_583+1del
c.362_389del (p.Ala121ValfsTer5)
c.551_578del (p.Ala184ValfsTer5)
c.*22_*49del (n.*22_*49del)
c.503_530del (p.Ala168ValfsTer5)
c.200_227del (p.Ala67ValfsTer5)
c.310_336+1del
c.413_440del (p.Ala138ValfsTer5)
c.416_442+1del
c.554_581del (p.Ala185ValfsTer5)
c.47_74del (p.Ala16ValfsTer5)
n.449_475+1del
c.503_529+1del
c.428_454+1del
c.557_584del (p.Ala186ValfsTer5)
c.416_443del (p.Ala139ValfsTer5)
c.*22_*48+1del
c.496_522+1del
c.74_100+1del
c.357_384del (n.357_384del)
c.550_577del
c.362_388+1del
c.80_106+1del
n.636_662+1del
n.849_875+1del
c.413_439+1del
n.633_659+1del
n.492_518+1del
c.554_580+1del
c.500_526+1del
c.4810-110378_4810-110351del (n.4810-110378_4810-110351del)
n.617_643+1del
n.992_1018+1del
n.590_616+1del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938677G>ACA400019066GOSR2,LRRC37A2c.556G>A (p.Ala186Thr)
c.361G>A (p.Ala121Thr)
c.550G>A (p.Ala184Thr)
c.*21G>A (n.*21G>A)
c.502G>A (p.Ala168Thr)
c.199G>A (p.Ala67Thr)
c.309G>A
c.412G>A (p.Ala138Thr)
c.415G>A (p.Ala139Thr)
c.553G>A (p.Ala185Thr)
c.46G>A (p.Ala16Thr)
n.448G>A
c.427G>A (p.Ala143Thr)
c.495G>A
c.73G>A (p.Ala25Thr)
c.356G>A (n.356G>A)
c.549G>A
c.79G>A (p.Ala27Thr)
n.635G>A
n.848G>A
n.632G>A
n.491G>A
c.499G>A (p.Ala167Thr)
c.4810-110379G>A (n.4810-110379G>A)
n.616G>A
n.991G>A
n.589G>A
 gnomAD v4
17g.46938677G>CCA400019067GOSR2,LRRC37A2c.556G>C (p.Ala186Pro)
c.361G>C (p.Ala121Pro)
c.550G>C (p.Ala184Pro)
c.*21G>C (n.*21G>C)
c.502G>C (p.Ala168Pro)
c.199G>C (p.Ala67Pro)
c.309G>C
c.412G>C (p.Ala138Pro)
c.415G>C (p.Ala139Pro)
c.553G>C (p.Ala185Pro)
c.46G>C (p.Ala16Pro)
n.448G>C
c.427G>C (p.Ala143Pro)
c.495G>C
c.73G>C (p.Ala25Pro)
c.356G>C (n.356G>C)
c.549G>C
c.79G>C (p.Ala27Pro)
n.635G>C
n.848G>C
n.632G>C
n.491G>C
c.499G>C (p.Ala167Pro)
c.4810-110379G>C (n.4810-110379G>C)
n.616G>C
n.991G>C
n.589G>C
17g.46938677G>TCA400019068GOSR2,LRRC37A2c.556G>T (p.Ala186Ser)
c.361G>T (p.Ala121Ser)
c.550G>T (p.Ala184Ser)
c.*21G>T (n.*21G>T)
c.502G>T (p.Ala168Ser)
c.199G>T (p.Ala67Ser)
c.309G>T
c.412G>T (p.Ala138Ser)
c.415G>T (p.Ala139Ser)
c.553G>T (p.Ala185Ser)
c.46G>T (p.Ala16Ser)
n.448G>T
c.427G>T (p.Ala143Ser)
c.495G>T
c.73G>T (p.Ala25Ser)
c.356G>T (n.356G>T)
c.549G>T
c.79G>T (p.Ala27Ser)
n.635G>T
n.848G>T
n.632G>T
n.491G>T
c.499G>T (p.Ala167Ser)
c.4810-110379G>T (n.4810-110379G>T)
n.616G>T
n.991G>T
n.589G>T
17g.46938678C>ACA400019071GOSR2,LRRC37A2c.557C>A (p.Ala186Asp)
c.362C>A (p.Ala121Asp)
c.551C>A (p.Ala184Asp)
c.*22C>A (n.*22C>A)
c.503C>A (p.Ala168Asp)
c.200C>A (p.Ala67Asp)
c.310C>A
c.413C>A (p.Ala138Asp)
c.416C>A (p.Ala139Asp)
c.554C>A (p.Ala185Asp)
c.47C>A (p.Ala16Asp)
n.449C>A
c.428C>A (p.Ala143Asp)
c.496C>A
c.74C>A (p.Ala25Asp)
c.357C>A (n.357C>A)
c.550C>A
c.80C>A (p.Ala27Asp)
n.636C>A
n.849C>A
n.633C>A
n.492C>A
c.500C>A (p.Ala167Asp)
c.4810-110378C>A (n.4810-110378C>A)
n.617C>A
n.992C>A
n.590C>A
17g.46938678C=CA2262452870GOSR2,LRRC37A2c.557C= (p.Ala186=)
c.362C= (p.Ala121=)
c.551C= (p.Ala184=)
c.*22C= (n.*22C=)
c.503C= (p.Ala168=)
c.200C= (p.Ala67=)
c.310C=
c.413C= (p.Ala138=)
c.416C= (p.Ala139=)
c.554C= (p.Ala185=)
c.47C= (p.Ala16=)
n.449C=
c.428C= (p.Ala143=)
c.496C=
c.74C= (p.Ala25=)
c.357C= (n.357C=)
c.550C=
c.80C= (p.Ala27=)
n.636C=
n.849C=
n.633C=
n.492C=
c.500C= (p.Ala167=)
c.4810-110378C= (n.4810-110378C=)
n.617C=
n.992C=
n.590C=
17g.46938678C>GCA400019070GOSR2,LRRC37A2c.557C>G (p.Ala186Gly)
c.362C>G (p.Ala121Gly)
c.551C>G (p.Ala184Gly)
c.*22C>G (n.*22C>G)
c.503C>G (p.Ala168Gly)
c.200C>G (p.Ala67Gly)
c.310C>G
c.413C>G (p.Ala138Gly)
c.416C>G (p.Ala139Gly)
c.554C>G (p.Ala185Gly)
c.47C>G (p.Ala16Gly)
n.449C>G
c.428C>G (p.Ala143Gly)
c.496C>G
c.74C>G (p.Ala25Gly)
c.357C>G (n.357C>G)
c.550C>G
c.80C>G (p.Ala27Gly)
n.636C>G
n.849C>G
n.633C>G
n.492C>G
c.500C>G (p.Ala167Gly)
c.4810-110378C>G (n.4810-110378C>G)
n.617C>G
n.992C>G
n.590C>G
17g.46938678C>TCA400019069GOSR2,LRRC37A2c.557C>T (p.Ala186Val)
c.362C>T (p.Ala121Val)
c.551C>T (p.Ala184Val)
c.*22C>T (n.*22C>T)
c.503C>T (p.Ala168Val)
c.200C>T (p.Ala67Val)
c.310C>T
c.413C>T (p.Ala138Val)
c.416C>T (p.Ala139Val)
c.554C>T (p.Ala185Val)
c.47C>T (p.Ala16Val)
n.449C>T
c.428C>T (p.Ala143Val)
c.496C>T
c.74C>T (p.Ala25Val)
c.357C>T (n.357C>T)
c.550C>T
c.80C>T (p.Ala27Val)
n.636C>T
n.849C>T
n.633C>T
n.492C>T
c.500C>T (p.Ala167Val)
c.4810-110378C>T (n.4810-110378C>T)
n.617C>T
n.992C>T
n.590C>T
 dbSNP
17g.46938679T>ACA500414739GOSR2,LRRC37A2c.558T>A (p.Ala186=)
c.363T>A (p.Ala121=)
c.552T>A (p.Ala184=)
c.*23T>A (n.*23T>A)
c.504T>A (p.Ala168=)
c.201T>A (p.Ala67=)
c.311T>A
c.414T>A (p.Ala138=)
c.417T>A (p.Ala139=)
c.555T>A (p.Ala185=)
c.48T>A (p.Ala16=)
n.450T>A
c.429T>A (p.Ala143=)
c.497T>A
c.75T>A (p.Ala25=)
c.358T>A (n.358T>A)
c.551T>A
c.81T>A (p.Ala27=)
n.637T>A
n.850T>A
n.634T>A
n.493T>A
c.501T>A (p.Ala167=)
c.4810-110377T>A (n.4810-110377T>A)
n.618T>A
n.993T>A
n.591T>A
17g.46938679T>CCA500414736GOSR2,LRRC37A2c.558T>C (p.Ala186=)
c.363T>C (p.Ala121=)
c.552T>C (p.Ala184=)
c.*23T>C (n.*23T>C)
c.504T>C (p.Ala168=)
c.201T>C (p.Ala67=)
c.311T>C
c.414T>C (p.Ala138=)
c.417T>C (p.Ala139=)
c.555T>C (p.Ala185=)
c.48T>C (p.Ala16=)
n.450T>C
c.429T>C (p.Ala143=)
c.497T>C
c.75T>C (p.Ala25=)
c.358T>C (n.358T>C)
c.551T>C
c.81T>C (p.Ala27=)
n.637T>C
n.850T>C
n.634T>C
n.493T>C
c.501T>C (p.Ala167=)
c.4810-110377T>C (n.4810-110377T>C)
n.618T>C
n.993T>C
n.591T>C
17g.46938679T>GCA500414735GOSR2,LRRC37A2c.558T>G (p.Ala186=)
c.363T>G (p.Ala121=)
c.552T>G (p.Ala184=)
c.*23T>G (n.*23T>G)
c.504T>G (p.Ala168=)
c.201T>G (p.Ala67=)
c.311T>G
c.414T>G (p.Ala138=)
c.417T>G (p.Ala139=)
c.555T>G (p.Ala185=)
c.48T>G (p.Ala16=)
n.450T>G
c.429T>G (p.Ala143=)
c.497T>G
c.75T>G (p.Ala25=)
c.358T>G (n.358T>G)
c.551T>G
c.81T>G (p.Ala27=)
n.637T>G
n.850T>G
n.634T>G
n.493T>G
c.501T>G (p.Ala167=)
c.4810-110377T>G (n.4810-110377T>G)
n.618T>G
n.993T>G
n.591T>G
17g.46938680T>ACA400019072GOSR2,LRRC37A2c.559T>A (p.Phe187Ile)
c.364T>A (p.Phe122Ile)
c.553T>A (p.Phe185Ile)
c.*24T>A (n.*24T>A)
c.505T>A (p.Phe169Ile)
c.202T>A (p.Phe68Ile)
c.312T>A
c.415T>A (p.Phe139Ile)
c.418T>A (p.Phe140Ile)
c.556T>A (p.Phe186Ile)
c.49T>A (p.Phe17Ile)
n.451T>A
c.430T>A (p.Phe144Ile)
c.498T>A
c.76T>A (p.Phe26Ile)
c.359T>A (n.359T>A)
c.552T>A
c.82T>A (p.Phe28Ile)
n.638T>A
n.851T>A
n.635T>A
n.494T>A
c.502T>A (p.Phe168Ile)
c.4810-110376T>A (n.4810-110376T>A)
n.619T>A
n.994T>A
n.592T>A
17g.46938680T>CCA400019073GOSR2,LRRC37A2c.559T>C (p.Phe187Leu)
c.364T>C (p.Phe122Leu)
c.553T>C (p.Phe185Leu)
c.*24T>C (n.*24T>C)
c.505T>C (p.Phe169Leu)
c.202T>C (p.Phe68Leu)
c.312T>C
c.415T>C (p.Phe139Leu)
c.418T>C (p.Phe140Leu)
c.556T>C (p.Phe186Leu)
c.49T>C (p.Phe17Leu)
n.451T>C
c.430T>C (p.Phe144Leu)
c.498T>C
c.76T>C (p.Phe26Leu)
c.359T>C (n.359T>C)
c.552T>C
c.82T>C (p.Phe28Leu)
n.638T>C
n.851T>C
n.635T>C
n.494T>C
c.502T>C (p.Phe168Leu)
c.4810-110376T>C (n.4810-110376T>C)
n.619T>C
n.994T>C
n.592T>C
17g.46938680T>GCA400019074GOSR2,LRRC37A2c.559T>G (p.Phe187Val)
c.364T>G (p.Phe122Val)
c.553T>G (p.Phe185Val)
c.*24T>G (n.*24T>G)
c.505T>G (p.Phe169Val)
c.202T>G (p.Phe68Val)
c.312T>G
c.415T>G (p.Phe139Val)
c.418T>G (p.Phe140Val)
c.556T>G (p.Phe186Val)
c.49T>G (p.Phe17Val)
n.451T>G
c.430T>G (p.Phe144Val)
c.498T>G
c.76T>G (p.Phe26Val)
c.359T>G (n.359T>G)
c.552T>G
c.82T>G (p.Phe28Val)
n.638T>G
n.851T>G
n.635T>G
n.494T>G
c.502T>G (p.Phe168Val)
c.4810-110376T>G (n.4810-110376T>G)
n.619T>G
n.994T>G
n.592T>G
17g.46938681T>ACA400019075GOSR2,LRRC37A2c.560T>A (p.Phe187Tyr)
c.365T>A (p.Phe122Tyr)
c.554T>A (p.Phe185Tyr)
c.*25T>A (n.*25T>A)
c.506T>A (p.Phe169Tyr)
c.203T>A (p.Phe68Tyr)
c.313T>A
c.416T>A (p.Phe139Tyr)
c.419T>A (p.Phe140Tyr)
c.557T>A (p.Phe186Tyr)
c.50T>A (p.Phe17Tyr)
n.452T>A
c.431T>A (p.Phe144Tyr)
c.499T>A
c.77T>A (p.Phe26Tyr)
c.360T>A (n.360T>A)
c.553T>A
c.83T>A (p.Phe28Tyr)
n.639T>A
n.852T>A
n.636T>A
n.495T>A
c.503T>A (p.Phe168Tyr)
c.4810-110375T>A (n.4810-110375T>A)
n.620T>A
n.995T>A
n.593T>A
17g.46938681T>CCA400019076GOSR2,LRRC37A2c.560T>C (p.Phe187Ser)
c.365T>C (p.Phe122Ser)
c.554T>C (p.Phe185Ser)
c.*25T>C (n.*25T>C)
c.506T>C (p.Phe169Ser)
c.203T>C (p.Phe68Ser)
c.313T>C
c.416T>C (p.Phe139Ser)
c.419T>C (p.Phe140Ser)
c.557T>C (p.Phe186Ser)
c.50T>C (p.Phe17Ser)
n.452T>C
c.431T>C (p.Phe144Ser)
c.499T>C
c.77T>C (p.Phe26Ser)
c.360T>C (n.360T>C)
c.553T>C
c.83T>C (p.Phe28Ser)
n.639T>C
n.852T>C
n.636T>C
n.495T>C
c.503T>C (p.Phe168Ser)
c.4810-110375T>C (n.4810-110375T>C)
n.620T>C
n.995T>C
n.593T>C
17g.46938681T>GCA400019077GOSR2,LRRC37A2c.560T>G (p.Phe187Cys)
c.365T>G (p.Phe122Cys)
c.554T>G (p.Phe185Cys)
c.*25T>G (n.*25T>G)
c.506T>G (p.Phe169Cys)
c.203T>G (p.Phe68Cys)
c.313T>G
c.416T>G (p.Phe139Cys)
c.419T>G (p.Phe140Cys)
c.557T>G (p.Phe186Cys)
c.50T>G (p.Phe17Cys)
n.452T>G
c.431T>G (p.Phe144Cys)
c.499T>G
c.77T>G (p.Phe26Cys)
c.360T>G (n.360T>G)
c.553T>G
c.83T>G (p.Phe28Cys)
n.639T>G
n.852T>G
n.636T>G
n.495T>G
c.503T>G (p.Phe168Cys)
c.4810-110375T>G (n.4810-110375T>G)
n.620T>G
n.995T>G
n.593T>G
17g.46938682C>ACA400019078GOSR2,LRRC37A2c.561C>A (p.Phe187Leu)
c.366C>A (p.Phe122Leu)
c.555C>A (p.Phe185Leu)
c.*26C>A (n.*26C>A)
c.507C>A (p.Phe169Leu)
c.204C>A (p.Phe68Leu)
c.314C>A
c.417C>A (p.Phe139Leu)
c.420C>A (p.Phe140Leu)
c.558C>A (p.Phe186Leu)
c.51C>A (p.Phe17Leu)
n.453C>A
c.432C>A (p.Phe144Leu)
c.500C>A
c.78C>A (p.Phe26Leu)
c.361C>A (n.361C>A)
c.554C>A
c.84C>A (p.Phe28Leu)
n.640C>A
n.853C>A
n.637C>A
n.496C>A
c.504C>A (p.Phe168Leu)
c.4810-110374C>A (n.4810-110374C>A)
n.621C>A
n.996C>A
n.594C>A
17g.46938682C>GCA400019079GOSR2,LRRC37A2c.561C>G (p.Phe187Leu)
c.366C>G (p.Phe122Leu)
c.555C>G (p.Phe185Leu)
c.*26C>G (n.*26C>G)
c.507C>G (p.Phe169Leu)
c.204C>G (p.Phe68Leu)
c.314C>G
c.417C>G (p.Phe139Leu)
c.420C>G (p.Phe140Leu)
c.558C>G (p.Phe186Leu)
c.51C>G (p.Phe17Leu)
n.453C>G
c.432C>G (p.Phe144Leu)
c.500C>G
c.78C>G (p.Phe26Leu)
c.361C>G (n.361C>G)
c.554C>G
c.84C>G (p.Phe28Leu)
n.640C>G
n.853C>G
n.637C>G
n.496C>G
c.504C>G (p.Phe168Leu)
c.4810-110374C>G (n.4810-110374C>G)
n.621C>G
n.996C>G
n.594C>G
17g.46938682C>TCA500414747GOSR2,LRRC37A2c.561C>T (p.Phe187=)
c.366C>T (p.Phe122=)
c.555C>T (p.Phe185=)
c.*26C>T (n.*26C>T)
c.507C>T (p.Phe169=)
c.204C>T (p.Phe68=)
c.314C>T
c.417C>T (p.Phe139=)
c.420C>T (p.Phe140=)
c.558C>T (p.Phe186=)
c.51C>T (p.Phe17=)
n.453C>T
c.432C>T (p.Phe144=)
c.500C>T
c.78C>T (p.Phe26=)
c.361C>T (n.361C>T)
c.554C>T
c.84C>T (p.Phe28=)
n.640C>T
n.853C>T
n.637C>T
n.496C>T
c.504C>T (p.Phe168=)
c.4810-110374C>T (n.4810-110374C>T)
n.621C>T
n.996C>T
n.594C>T
17g.46938683C>ACA400019080GOSR2,LRRC37A2c.562C>A (p.Gln188Lys)
c.367C>A (p.Gln123Lys)
c.556C>A (p.Gln186Lys)
c.*27C>A (n.*27C>A)
c.508C>A (p.Gln170Lys)
c.205C>A (p.Gln69Lys)
c.315C>A
c.418C>A (p.Gln140Lys)
c.421C>A (p.Gln141Lys)
c.559C>A (p.Gln187Lys)
c.52C>A (p.Gln18Lys)
n.454C>A
c.433C>A (p.Gln145Lys)
c.501C>A
c.79C>A (p.Gln27Lys)
c.362C>A (n.362C>A)
c.555C>A
c.85C>A (p.Gln29Lys)
n.641C>A
n.854C>A
n.638C>A
n.497C>A
c.505C>A (p.Gln169Lys)
c.4810-110373C>A (n.4810-110373C>A)
n.622C>A
n.997C>A
n.595C>A
 COSMIC COSMIC COSMIC
17g.46938683C>GCA400019081GOSR2,LRRC37A2c.562C>G (p.Gln188Glu)
c.367C>G (p.Gln123Glu)
c.556C>G (p.Gln186Glu)
c.*27C>G (n.*27C>G)
c.508C>G (p.Gln170Glu)
c.205C>G (p.Gln69Glu)
c.315C>G
c.418C>G (p.Gln140Glu)
c.421C>G (p.Gln141Glu)
c.559C>G (p.Gln187Glu)
c.52C>G (p.Gln18Glu)
n.454C>G
c.433C>G (p.Gln145Glu)
c.501C>G
c.79C>G (p.Gln27Glu)
c.362C>G (n.362C>G)
c.555C>G
c.85C>G (p.Gln29Glu)
n.641C>G
n.854C>G
n.638C>G
n.497C>G
c.505C>G (p.Gln169Glu)
c.4810-110373C>G (n.4810-110373C>G)
n.622C>G
n.997C>G
n.595C>G
17g.46938683C>TCA400019082GOSR2,LRRC37A2c.562C>T (p.Gln188Ter)
c.367C>T (p.Gln123Ter)
c.556C>T (p.Gln186Ter)
c.*27C>T (n.*27C>T)
c.508C>T (p.Gln170Ter)
c.205C>T (p.Gln69Ter)
c.315C>T
c.418C>T (p.Gln140Ter)
c.421C>T (p.Gln141Ter)
c.559C>T (p.Gln187Ter)
c.52C>T (p.Gln18Ter)
n.454C>T
c.433C>T (p.Gln145Ter)
c.501C>T
c.79C>T (p.Gln27Ter)
c.362C>T (n.362C>T)
c.555C>T
c.85C>T (p.Gln29Ter)
n.641C>T
n.854C>T
n.638C>T
n.497C>T
c.505C>T (p.Gln169Ter)
c.4810-110373C>T (n.4810-110373C>T)
n.622C>T
n.997C>T
n.595C>T
 COSMIC COSMIC COSMIC
17g.46938684A=CA2262452871GOSR2,LRRC37A2c.563A= (p.Gln188=)
c.368A= (p.Gln123=)
c.557A= (p.Gln186=)
c.*28A= (n.*28A=)
c.509A= (p.Gln170=)
c.206A= (p.Gln69=)
c.316A=
c.419A= (p.Gln140=)
c.422A= (p.Gln141=)
c.560A= (p.Gln187=)
c.53A= (p.Gln18=)
n.455A=
c.434A= (p.Gln145=)
c.502A=
c.80A= (p.Gln27=)
c.363A= (n.363A=)
c.556A=
c.86A= (p.Gln29=)
n.642A=
n.855A=
n.639A=
n.498A=
c.506A= (p.Gln169=)
c.4810-110372A= (n.4810-110372A=)
n.623A=
n.998A=
n.596A=
17g.46938684A>CCA400019084GOSR2,LRRC37A2c.563A>C (p.Gln188Pro)
c.368A>C (p.Gln123Pro)
c.557A>C (p.Gln186Pro)
c.*28A>C (n.*28A>C)
c.509A>C (p.Gln170Pro)
c.206A>C (p.Gln69Pro)
c.316A>C
c.419A>C (p.Gln140Pro)
c.422A>C (p.Gln141Pro)
c.560A>C (p.Gln187Pro)
c.53A>C (p.Gln18Pro)
n.455A>C
c.434A>C (p.Gln145Pro)
c.502A>C
c.80A>C (p.Gln27Pro)
c.363A>C (n.363A>C)
c.556A>C
c.86A>C (p.Gln29Pro)
n.642A>C
n.855A>C
n.639A>C
n.498A>C
c.506A>C (p.Gln169Pro)
c.4810-110372A>C (n.4810-110372A>C)
n.623A>C
n.998A>C
n.596A>C
17g.46938684A>GCA8621356GOSR2,LRRC37A2c.563A>G (p.Gln188Arg)
c.368A>G (p.Gln123Arg)
c.557A>G (p.Gln186Arg)
c.*28A>G (n.*28A>G)
c.509A>G (p.Gln170Arg)
c.206A>G (p.Gln69Arg)
c.316A>G
c.419A>G (p.Gln140Arg)
c.422A>G (p.Gln141Arg)
c.560A>G (p.Gln187Arg)
c.53A>G (p.Gln18Arg)
n.455A>G
c.434A>G (p.Gln145Arg)
c.502A>G
c.80A>G (p.Gln27Arg)
c.363A>G (n.363A>G)
c.556A>G
c.86A>G (p.Gln29Arg)
n.642A>G
n.855A>G
n.639A>G
n.498A>G
c.506A>G (p.Gln169Arg)
c.4810-110372A>G (n.4810-110372A>G)
n.623A>G
n.998A>G
n.596A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938684A>TCA400019083GOSR2,LRRC37A2c.563A>T (p.Gln188Leu)
c.368A>T (p.Gln123Leu)
c.557A>T (p.Gln186Leu)
c.*28A>T (n.*28A>T)
c.509A>T (p.Gln170Leu)
c.206A>T (p.Gln69Leu)
c.316A>T
c.419A>T (p.Gln140Leu)
c.422A>T (p.Gln141Leu)
c.560A>T (p.Gln187Leu)
c.53A>T (p.Gln18Leu)
n.455A>T
c.434A>T (p.Gln145Leu)
c.502A>T
c.80A>T (p.Gln27Leu)
c.363A>T (n.363A>T)
c.556A>T
c.86A>T (p.Gln29Leu)
n.642A>T
n.855A>T
n.639A>T
n.498A>T
c.506A>T (p.Gln169Leu)
c.4810-110372A>T (n.4810-110372A>T)
n.623A>T
n.998A>T
n.596A>T
17g.46938685G>ACA8621357GOSR2,LRRC37A2c.564G>A (p.Gln188=)
c.369G>A (p.Gln123=)
c.558G>A (p.Gln186=)
c.*29G>A (n.*29G>A)
c.510G>A (p.Gln170=)
c.207G>A (p.Gln69=)
c.317G>A
c.420G>A (p.Gln140=)
c.423G>A (p.Gln141=)
c.561G>A (p.Gln187=)
c.54G>A (p.Gln18=)
n.456G>A
c.435G>A (p.Gln145=)
c.503G>A
c.81G>A (p.Gln27=)
c.364G>A (n.364G>A)
c.557G>A
c.87G>A (p.Gln29=)
n.643G>A
n.856G>A
n.640G>A
n.499G>A
c.507G>A (p.Gln169=)
c.4810-110371G>A (n.4810-110371G>A)
n.624G>A
n.999G>A
n.597G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938685G>CCA400019086GOSR2,LRRC37A2c.564G>C (p.Gln188His)
c.369G>C (p.Gln123His)
c.558G>C (p.Gln186His)
c.*29G>C (n.*29G>C)
c.510G>C (p.Gln170His)
c.207G>C (p.Gln69His)
c.317G>C
c.420G>C (p.Gln140His)
c.423G>C (p.Gln141His)
c.561G>C (p.Gln187His)
c.54G>C (p.Gln18His)
n.456G>C
c.435G>C (p.Gln145His)
c.503G>C
c.81G>C (p.Gln27His)
c.364G>C (n.364G>C)
c.557G>C
c.87G>C (p.Gln29His)
n.643G>C
n.856G>C
n.640G>C
n.499G>C
c.507G>C (p.Gln169His)
c.4810-110371G>C (n.4810-110371G>C)
n.624G>C
n.999G>C
n.597G>C
17g.46938685G=CA2262452872GOSR2,LRRC37A2c.564G= (p.Gln188=)
c.369G= (p.Gln123=)
c.558G= (p.Gln186=)
c.*29G= (n.*29G=)
c.510G= (p.Gln170=)
c.207G= (p.Gln69=)
c.317G=
c.420G= (p.Gln140=)
c.423G= (p.Gln141=)
c.561G= (p.Gln187=)
c.54G= (p.Gln18=)
n.456G=
c.435G= (p.Gln145=)
c.503G=
c.81G= (p.Gln27=)
c.364G= (n.364G=)
c.557G=
c.87G= (p.Gln29=)
n.643G=
n.856G=
n.640G=
n.499G=
c.507G= (p.Gln169=)
c.4810-110371G= (n.4810-110371G=)
n.624G=
n.999G=
n.597G=
17g.46938685G>TCA400019085GOSR2,LRRC37A2c.564G>T (p.Gln188His)
c.369G>T (p.Gln123His)
c.558G>T (p.Gln186His)
c.*29G>T (n.*29G>T)
c.510G>T (p.Gln170His)
c.207G>T (p.Gln69His)
c.317G>T
c.420G>T (p.Gln140His)
c.423G>T (p.Gln141His)
c.561G>T (p.Gln187His)
c.54G>T (p.Gln18His)
n.456G>T
c.435G>T (p.Gln145His)
c.503G>T
c.81G>T (p.Gln27His)
c.364G>T (n.364G>T)
c.557G>T
c.87G>T (p.Gln29His)
n.643G>T
n.856G>T
n.640G>T
n.499G>T
c.507G>T (p.Gln169His)
c.4810-110371G>T (n.4810-110371G>T)
n.624G>T
n.999G>T
n.597G>T
17g.46938686G>ACA400019087GOSR2,LRRC37A2c.565G>A (p.Asp189Asn)
c.370G>A (p.Asp124Asn)
c.559G>A (p.Asp187Asn)
c.*30G>A (n.*30G>A)
c.511G>A (p.Asp171Asn)
c.208G>A (p.Asp70Asn)
c.318G>A
c.421G>A (p.Asp141Asn)
c.424G>A (p.Asp142Asn)
c.562G>A (p.Asp188Asn)
c.55G>A (p.Asp19Asn)
n.457G>A
c.436G>A (p.Asp146Asn)
c.504G>A
c.82G>A (p.Asp28Asn)
c.365G>A (n.365G>A)
c.558G>A
c.88G>A (p.Asp30Asn)
n.644G>A
n.857G>A
n.641G>A
n.500G>A
c.508G>A (p.Asp170Asn)
c.4810-110370G>A (n.4810-110370G>A)
n.625G>A
n.1000G>A
n.598G>A
17g.46938686G>CCA400019089GOSR2,LRRC37A2c.565G>C (p.Asp189His)
c.370G>C (p.Asp124His)
c.559G>C (p.Asp187His)
c.*30G>C (n.*30G>C)
c.511G>C (p.Asp171His)
c.208G>C (p.Asp70His)
c.318G>C
c.421G>C (p.Asp141His)
c.424G>C (p.Asp142His)
c.562G>C (p.Asp188His)
c.55G>C (p.Asp19His)
n.457G>C
c.436G>C (p.Asp146His)
c.504G>C
c.82G>C (p.Asp28His)
c.365G>C (n.365G>C)
c.558G>C
c.88G>C (p.Asp30His)
n.644G>C
n.857G>C
n.641G>C
n.500G>C
c.508G>C (p.Asp170His)
c.4810-110370G>C (n.4810-110370G>C)
n.625G>C
n.1000G>C
n.598G>C
17g.46938686G>TCA400019088GOSR2,LRRC37A2c.565G>T (p.Asp189Tyr)
c.370G>T (p.Asp124Tyr)
c.559G>T (p.Asp187Tyr)
c.*30G>T (n.*30G>T)
c.511G>T (p.Asp171Tyr)
c.208G>T (p.Asp70Tyr)
c.318G>T
c.421G>T (p.Asp141Tyr)
c.424G>T (p.Asp142Tyr)
c.562G>T (p.Asp188Tyr)
c.55G>T (p.Asp19Tyr)
n.457G>T
c.436G>T (p.Asp146Tyr)
c.504G>T
c.82G>T (p.Asp28Tyr)
c.365G>T (n.365G>T)
c.558G>T
c.88G>T (p.Asp30Tyr)
n.644G>T
n.857G>T
n.641G>T
n.500G>T
c.508G>T (p.Asp170Tyr)
c.4810-110370G>T (n.4810-110370G>T)
n.625G>T
n.1000G>T
n.598G>T
17g.46938687A=CA2262452873GOSR2,LRRC37A2c.566A= (p.Asp189=)
c.371A= (p.Asp124=)
c.560A= (p.Asp187=)
c.*31A= (n.*31A=)
c.512A= (p.Asp171=)
c.209A= (p.Asp70=)
c.319A=
c.422A= (p.Asp141=)
c.425A= (p.Asp142=)
c.563A= (p.Asp188=)
c.56A= (p.Asp19=)
n.458A=
c.437A= (p.Asp146=)
c.505A=
c.83A= (p.Asp28=)
c.366A= (n.366A=)
c.559A=
c.89A= (p.Asp30=)
n.645A=
n.858A=
n.642A=
n.501A=
c.509A= (p.Asp170=)
c.4810-110369A= (n.4810-110369A=)
n.626A=
n.1001A=
n.599A=
17g.46938687A>CCA291204322GOSR2,LRRC37A2c.566A>C (p.Asp189Ala)
c.371A>C (p.Asp124Ala)
c.560A>C (p.Asp187Ala)
c.*31A>C (n.*31A>C)
c.512A>C (p.Asp171Ala)
c.209A>C (p.Asp70Ala)
c.319A>C
c.422A>C (p.Asp141Ala)
c.425A>C (p.Asp142Ala)
c.563A>C (p.Asp188Ala)
c.56A>C (p.Asp19Ala)
n.458A>C
c.437A>C (p.Asp146Ala)
c.505A>C
c.83A>C (p.Asp28Ala)
c.366A>C (n.366A>C)
c.559A>C
c.89A>C (p.Asp30Ala)
n.645A>C
n.858A>C
n.642A>C
n.501A>C
c.509A>C (p.Asp170Ala)
c.4810-110369A>C (n.4810-110369A>C)
n.626A>C
n.1001A>C
n.599A>C
 dbSNP
17g.46938687A>GCA400019090GOSR2,LRRC37A2c.566A>G (p.Asp189Gly)
c.371A>G (p.Asp124Gly)
c.560A>G (p.Asp187Gly)
c.*31A>G (n.*31A>G)
c.512A>G (p.Asp171Gly)
c.209A>G (p.Asp70Gly)
c.319A>G
c.422A>G (p.Asp141Gly)
c.425A>G (p.Asp142Gly)
c.563A>G (p.Asp188Gly)
c.56A>G (p.Asp19Gly)
n.458A>G
c.437A>G (p.Asp146Gly)
c.505A>G
c.83A>G (p.Asp28Gly)
c.366A>G (n.366A>G)
c.559A>G
c.89A>G (p.Asp30Gly)
n.645A>G
n.858A>G
n.642A>G
n.501A>G
c.509A>G (p.Asp170Gly)
c.4810-110369A>G (n.4810-110369A>G)
n.626A>G
n.1001A>G
n.599A>G
 dbSNP gnomAD v3 gnomAD v4
17g.46938687A>TCA400019091GOSR2,LRRC37A2c.566A>T (p.Asp189Val)
c.371A>T (p.Asp124Val)
c.560A>T (p.Asp187Val)
c.*31A>T (n.*31A>T)
c.512A>T (p.Asp171Val)
c.209A>T (p.Asp70Val)
c.319A>T
c.422A>T (p.Asp141Val)
c.425A>T (p.Asp142Val)
c.563A>T (p.Asp188Val)
c.56A>T (p.Asp19Val)
n.458A>T
c.437A>T (p.Asp146Val)
c.505A>T
c.83A>T (p.Asp28Val)
c.366A>T (n.366A>T)
c.559A>T
c.89A>T (p.Asp30Val)
n.645A>T
n.858A>T
n.642A>T
n.501A>T
c.509A>T (p.Asp170Val)
c.4810-110369A>T (n.4810-110369A>T)
n.626A>T
n.1001A>T
n.599A>T
17g.46938688C>ACA400019092GOSR2,LRRC37A2c.567C>A (p.Asp189Glu)
c.372C>A (p.Asp124Glu)
c.561C>A (p.Asp187Glu)
c.*32C>A (n.*32C>A)
c.513C>A (p.Asp171Glu)
c.210C>A (p.Asp70Glu)
c.320C>A
c.423C>A (p.Asp141Glu)
c.426C>A (p.Asp142Glu)
c.564C>A (p.Asp188Glu)
c.57C>A (p.Asp19Glu)
n.459C>A
c.438C>A (p.Asp146Glu)
c.506C>A
c.84C>A (p.Asp28Glu)
c.367C>A (n.367C>A)
c.560C>A
c.90C>A (p.Asp30Glu)
n.646C>A
n.859C>A
n.643C>A
n.502C>A
c.510C>A (p.Asp170Glu)
c.4810-110368C>A (n.4810-110368C>A)
n.627C>A
n.1002C>A
n.600C>A
17g.46938688C>GCA400019093GOSR2,LRRC37A2c.567C>G (p.Asp189Glu)
c.372C>G (p.Asp124Glu)
c.561C>G (p.Asp187Glu)
c.*32C>G (n.*32C>G)
c.513C>G (p.Asp171Glu)
c.210C>G (p.Asp70Glu)
c.320C>G
c.423C>G (p.Asp141Glu)
c.426C>G (p.Asp142Glu)
c.564C>G (p.Asp188Glu)
c.57C>G (p.Asp19Glu)
n.459C>G
c.438C>G (p.Asp146Glu)
c.506C>G
c.84C>G (p.Asp28Glu)
c.367C>G (n.367C>G)
c.560C>G
c.90C>G (p.Asp30Glu)
n.646C>G
n.859C>G
n.643C>G
n.502C>G
c.510C>G (p.Asp170Glu)
c.4810-110368C>G (n.4810-110368C>G)
n.627C>G
n.1002C>G
n.600C>G
17g.46938688C>TCA500414765GOSR2,LRRC37A2c.567C>T (p.Asp189=)
c.372C>T (p.Asp124=)
c.561C>T (p.Asp187=)
c.*32C>T (n.*32C>T)
c.513C>T (p.Asp171=)
c.210C>T (p.Asp70=)
c.320C>T
c.423C>T (p.Asp141=)
c.426C>T (p.Asp142=)
c.564C>T (p.Asp188=)
c.57C>T (p.Asp19=)
n.459C>T
c.438C>T (p.Asp146=)
c.506C>T
c.84C>T (p.Asp28=)
c.367C>T (n.367C>T)
c.560C>T
c.90C>T (p.Asp30=)
n.646C>T
n.859C>T
n.643C>T
n.502C>T
c.510C>T (p.Asp170=)
c.4810-110368C>T (n.4810-110368C>T)
n.627C>T
n.1002C>T
n.600C>T
17g.46938689A=CA2262452874GOSR2,LRRC37A2c.568A= (p.Lys190=)
c.373A= (p.Lys125=)
c.562A= (p.Lys188=)
c.*33A= (n.*33A=)
c.514A= (p.Lys172=)
c.211A= (p.Lys71=)
c.321A=
c.424A= (p.Lys142=)
c.427A= (p.Lys143=)
c.565A= (p.Lys189=)
c.58A= (p.Lys20=)
n.460A=
c.439A= (p.Lys147=)
c.507A=
c.85A= (p.Lys29=)
c.368A= (n.368A=)
c.561A=
c.91A= (p.Lys31=)
n.647A=
n.860A=
n.644A=
n.503A=
c.511A= (p.Lys171=)
c.4810-110367A= (n.4810-110367A=)
n.628A=
n.1003A=
n.601A=
17g.46938689A>CCA400019094GOSR2,LRRC37A2c.568A>C (p.Lys190Gln)
c.373A>C (p.Lys125Gln)
c.562A>C (p.Lys188Gln)
c.*33A>C (n.*33A>C)
c.514A>C (p.Lys172Gln)
c.211A>C (p.Lys71Gln)
c.321A>C
c.424A>C (p.Lys142Gln)
c.427A>C (p.Lys143Gln)
c.565A>C (p.Lys189Gln)
c.58A>C (p.Lys20Gln)
n.460A>C
c.439A>C (p.Lys147Gln)
c.507A>C
c.85A>C (p.Lys29Gln)
c.368A>C (n.368A>C)
c.561A>C
c.91A>C (p.Lys31Gln)
n.647A>C
n.860A>C
n.644A>C
n.503A>C
c.511A>C (p.Lys171Gln)
c.4810-110367A>C (n.4810-110367A>C)
n.628A>C
n.1003A>C
n.601A>C
17g.46938689A>GCA8621358GOSR2,LRRC37A2c.568A>G (p.Lys190Glu)
c.373A>G (p.Lys125Glu)
c.562A>G (p.Lys188Glu)
c.*33A>G (n.*33A>G)
c.514A>G (p.Lys172Glu)
c.211A>G (p.Lys71Glu)
c.321A>G
c.424A>G (p.Lys142Glu)
c.427A>G (p.Lys143Glu)
c.565A>G (p.Lys189Glu)
c.58A>G (p.Lys20Glu)
n.460A>G
c.439A>G (p.Lys147Glu)
c.507A>G
c.85A>G (p.Lys29Glu)
c.368A>G (n.368A>G)
c.561A>G
c.91A>G (p.Lys31Glu)
n.647A>G
n.860A>G
n.644A>G
n.503A>G
c.511A>G (p.Lys171Glu)
c.4810-110367A>G (n.4810-110367A>G)
n.628A>G
n.1003A>G
n.601A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46938689A>TCA400019095GOSR2,LRRC37A2c.568A>T (p.Lys190Ter)
c.373A>T (p.Lys125Ter)
c.562A>T (p.Lys188Ter)
c.*33A>T (n.*33A>T)
c.514A>T (p.Lys172Ter)
c.211A>T (p.Lys71Ter)
c.321A>T
c.424A>T (p.Lys142Ter)
c.427A>T (p.Lys143Ter)
c.565A>T (p.Lys189Ter)
c.58A>T (p.Lys20Ter)
n.460A>T
c.439A>T (p.Lys147Ter)
c.507A>T
c.85A>T (p.Lys29Ter)
c.368A>T (n.368A>T)
c.561A>T
c.91A>T (p.Lys31Ter)
n.647A>T
n.860A>T
n.644A>T
n.503A>T
c.511A>T (p.Lys171Ter)
c.4810-110367A>T (n.4810-110367A>T)
n.628A>T
n.1003A>T
n.601A>T
17g.46938690A>CCA400019096GOSR2,LRRC37A2c.569A>C (p.Lys190Thr)
c.374A>C (p.Lys125Thr)
c.563A>C (p.Lys188Thr)
c.*34A>C (n.*34A>C)
c.515A>C (p.Lys172Thr)
c.212A>C (p.Lys71Thr)
c.322A>C
c.425A>C (p.Lys142Thr)
c.428A>C (p.Lys143Thr)
c.566A>C (p.Lys189Thr)
c.59A>C (p.Lys20Thr)
n.461A>C
c.440A>C (p.Lys147Thr)
c.508A>C
c.86A>C (p.Lys29Thr)
c.369A>C (n.369A>C)
c.562A>C
c.92A>C (p.Lys31Thr)
n.648A>C
n.861A>C
n.645A>C
n.504A>C
c.512A>C (p.Lys171Thr)
c.4810-110366A>C (n.4810-110366A>C)
n.629A>C
n.1004A>C
n.602A>C
17g.46938690A>GCA400019097GOSR2,LRRC37A2c.569A>G (p.Lys190Arg)
c.374A>G (p.Lys125Arg)
c.563A>G (p.Lys188Arg)
c.*34A>G (n.*34A>G)
c.515A>G (p.Lys172Arg)
c.212A>G (p.Lys71Arg)
c.322A>G
c.425A>G (p.Lys142Arg)
c.428A>G (p.Lys143Arg)
c.566A>G (p.Lys189Arg)
c.59A>G (p.Lys20Arg)
n.461A>G
c.440A>G (p.Lys147Arg)
c.508A>G
c.86A>G (p.Lys29Arg)
c.369A>G (n.369A>G)
c.562A>G
c.92A>G (p.Lys31Arg)
n.648A>G
n.861A>G
n.645A>G
n.504A>G
c.512A>G (p.Lys171Arg)
c.4810-110366A>G (n.4810-110366A>G)
n.629A>G
n.1004A>G
n.602A>G
 gnomAD v4
17g.46938690A>TCA400019098GOSR2,LRRC37A2c.569A>T (p.Lys190Met)
c.374A>T (p.Lys125Met)
c.563A>T (p.Lys188Met)
c.*34A>T (n.*34A>T)
c.515A>T (p.Lys172Met)
c.212A>T (p.Lys71Met)
c.322A>T
c.425A>T (p.Lys142Met)
c.428A>T (p.Lys143Met)
c.566A>T (p.Lys189Met)
c.59A>T (p.Lys20Met)
n.461A>T
c.440A>T (p.Lys147Met)
c.508A>T
c.86A>T (p.Lys29Met)
c.369A>T (n.369A>T)
c.562A>T
c.92A>T (p.Lys31Met)
n.648A>T
n.861A>T
n.645A>T
n.504A>T
c.512A>T (p.Lys171Met)
c.4810-110366A>T (n.4810-110366A>T)
n.629A>T
n.1004A>T
n.602A>T
17g.46938691G>ACA500414786GOSR2,LRRC37A2c.570G>A (p.Lys190=)
c.375G>A (p.Lys125=)
c.564G>A (p.Lys188=)
c.*35G>A (n.*35G>A)
c.516G>A (p.Lys172=)
c.213G>A (p.Lys71=)
c.323G>A
c.426G>A (p.Lys142=)
c.429G>A (p.Lys143=)
c.567G>A (p.Lys189=)
c.60G>A (p.Lys20=)
n.462G>A
c.441G>A (p.Lys147=)
c.509G>A
c.87G>A (p.Lys29=)
c.370G>A (n.370G>A)
c.563G>A
c.93G>A (p.Lys31=)
n.649G>A
n.862G>A
n.646G>A
n.505G>A
c.513G>A (p.Lys171=)
c.4810-110365G>A (n.4810-110365G>A)
n.630G>A
n.1005G>A
n.603G>A
 dbSNP gnomAD v2 gnomAD v4
17g.46938691G>CCA400019100GOSR2,LRRC37A2c.570G>C (p.Lys190Asn)
c.375G>C (p.Lys125Asn)
c.564G>C (p.Lys188Asn)
c.*35G>C (n.*35G>C)
c.516G>C (p.Lys172Asn)
c.213G>C (p.Lys71Asn)
c.323G>C
c.426G>C (p.Lys142Asn)
c.429G>C (p.Lys143Asn)
c.567G>C (p.Lys189Asn)
c.60G>C (p.Lys20Asn)
n.462G>C
c.441G>C (p.Lys147Asn)
c.509G>C
c.87G>C (p.Lys29Asn)
c.370G>C (n.370G>C)
c.563G>C
c.93G>C (p.Lys31Asn)
n.649G>C
n.862G>C
n.646G>C
n.505G>C
c.513G>C (p.Lys171Asn)
c.4810-110365G>C (n.4810-110365G>C)
n.630G>C
n.1005G>C
n.603G>C
17g.46938691G=CA2262452875GOSR2,LRRC37A2c.570G= (p.Lys190=)
c.375G= (p.Lys125=)
c.564G= (p.Lys188=)
c.*35G= (n.*35G=)
c.516G= (p.Lys172=)
c.213G= (p.Lys71=)
c.323G=
c.426G= (p.Lys142=)
c.429G= (p.Lys143=)
c.567G= (p.Lys189=)
c.60G= (p.Lys20=)
n.462G=
c.441G= (p.Lys147=)
c.509G=
c.87G= (p.Lys29=)
c.370G= (n.370G=)
c.563G=
c.93G= (p.Lys31=)
n.649G=
n.862G=
n.646G=
n.505G=
c.513G= (p.Lys171=)
c.4810-110365G= (n.4810-110365G=)
n.630G=
n.1005G=
n.603G=
17g.46938691G>TCA400019099GOSR2,LRRC37A2c.570G>T (p.Lys190Asn)
c.375G>T (p.Lys125Asn)
c.564G>T (p.Lys188Asn)
c.*35G>T (n.*35G>T)
c.516G>T (p.Lys172Asn)
c.213G>T (p.Lys71Asn)
c.323G>T
c.426G>T (p.Lys142Asn)
c.429G>T (p.Lys143Asn)
c.567G>T (p.Lys189Asn)
c.60G>T (p.Lys20Asn)
n.462G>T
c.441G>T (p.Lys147Asn)
c.509G>T
c.87G>T (p.Lys29Asn)
c.370G>T (n.370G>T)
c.563G>T
c.93G>T (p.Lys31Asn)
n.649G>T
n.862G>T
n.646G>T
n.505G>T
c.513G>T (p.Lys171Asn)
c.4810-110365G>T (n.4810-110365G>T)
n.630G>T
n.1005G>T
n.603G>T
17g.46938692T>ACA400019101GOSR2,LRRC37A2c.571T>A (p.Tyr191Asn)
c.376T>A (p.Tyr126Asn)
c.565T>A (p.Tyr189Asn)
c.*36T>A (n.*36T>A)
c.517T>A (p.Tyr173Asn)
c.214T>A (p.Tyr72Asn)
c.324T>A
c.427T>A (p.Tyr143Asn)
c.430T>A (p.Tyr144Asn)
c.568T>A (p.Tyr190Asn)
c.61T>A (p.Tyr21Asn)
n.463T>A
c.442T>A (p.Tyr148Asn)
c.510T>A
c.88T>A (p.Tyr30Asn)
c.371T>A (n.371T>A)
c.564T>A
c.94T>A (p.Tyr32Asn)
n.650T>A
n.863T>A
n.647T>A
n.506T>A
c.514T>A (p.Tyr172Asn)
c.4810-110364T>A (n.4810-110364T>A)
n.631T>A
n.1006T>A
n.604T>A
17g.46938692T>CCA400019102GOSR2,LRRC37A2c.571T>C (p.Tyr191His)
c.376T>C (p.Tyr126His)
c.565T>C (p.Tyr189His)
c.*36T>C (n.*36T>C)
c.517T>C (p.Tyr173His)
c.214T>C (p.Tyr72His)
c.324T>C
c.427T>C (p.Tyr143His)
c.430T>C (p.Tyr144His)
c.568T>C (p.Tyr190His)
c.61T>C (p.Tyr21His)
n.463T>C
c.442T>C (p.Tyr148His)
c.510T>C
c.88T>C (p.Tyr30His)
c.371T>C (n.371T>C)
c.564T>C
c.94T>C (p.Tyr32His)
n.650T>C
n.863T>C
n.647T>C
n.506T>C
c.514T>C (p.Tyr172His)
c.4810-110364T>C (n.4810-110364T>C)
n.631T>C
n.1006T>C
n.604T>C
17g.46938692T>GCA400019103GOSR2,LRRC37A2c.571T>G (p.Tyr191Asp)
c.376T>G (p.Tyr126Asp)
c.565T>G (p.Tyr189Asp)
c.*36T>G (n.*36T>G)
c.517T>G (p.Tyr173Asp)
c.214T>G (p.Tyr72Asp)
c.324T>G
c.427T>G (p.Tyr143Asp)
c.430T>G (p.Tyr144Asp)
c.568T>G (p.Tyr190Asp)
c.61T>G (p.Tyr21Asp)
n.463T>G
c.442T>G (p.Tyr148Asp)
c.510T>G
c.88T>G (p.Tyr30Asp)
c.371T>G (n.371T>G)
c.564T>G
c.94T>G (p.Tyr32Asp)
n.650T>G
n.863T>G
n.647T>G
n.506T>G
c.514T>G (p.Tyr172Asp)
c.4810-110364T>G (n.4810-110364T>G)
n.631T>G
n.1006T>G
n.604T>G
17g.46938693A=CA2262452876GOSR2,LRRC37A2c.572A= (p.Tyr191=)
c.377A= (p.Tyr126=)
c.566A= (p.Tyr189=)
c.*37A= (n.*37A=)
c.518A= (p.Tyr173=)
c.215A= (p.Tyr72=)
c.325A=
c.428A= (p.Tyr143=)
c.431A= (p.Tyr144=)
c.569A= (p.Tyr190=)
c.62A= (p.Tyr21=)
n.464A=
c.443A= (p.Tyr148=)
c.511A=
c.89A= (p.Tyr30=)
c.372A= (n.372A=)
c.565A=
c.95A= (p.Tyr32=)
n.651A=
n.864A=
n.648A=
n.507A=
c.515A= (p.Tyr172=)
c.4810-110363A= (n.4810-110363A=)
n.632A=
n.1007A=
n.605A=
17g.46938693A>CCA400019104GOSR2,LRRC37A2c.572A>C (p.Tyr191Ser)
c.377A>C (p.Tyr126Ser)
c.566A>C (p.Tyr189Ser)
c.*37A>C (n.*37A>C)
c.518A>C (p.Tyr173Ser)
c.215A>C (p.Tyr72Ser)
c.325A>C
c.428A>C (p.Tyr143Ser)
c.431A>C (p.Tyr144Ser)
c.569A>C (p.Tyr190Ser)
c.62A>C (p.Tyr21Ser)
n.464A>C
c.443A>C (p.Tyr148Ser)
c.511A>C
c.89A>C (p.Tyr30Ser)
c.372A>C (n.372A>C)
c.565A>C
c.95A>C (p.Tyr32Ser)
n.651A>C
n.864A>C
n.648A>C
n.507A>C
c.515A>C (p.Tyr172Ser)
c.4810-110363A>C (n.4810-110363A>C)
n.632A>C
n.1007A>C
n.605A>C
17g.46938693A>GCA400019105GOSR2,LRRC37A2c.572A>G (p.Tyr191Cys)
c.377A>G (p.Tyr126Cys)
c.566A>G (p.Tyr189Cys)
c.*37A>G (n.*37A>G)
c.518A>G (p.Tyr173Cys)
c.215A>G (p.Tyr72Cys)
c.325A>G
c.428A>G (p.Tyr143Cys)
c.431A>G (p.Tyr144Cys)
c.569A>G (p.Tyr190Cys)
c.62A>G (p.Tyr21Cys)
n.464A>G
c.443A>G (p.Tyr148Cys)
c.511A>G
c.89A>G (p.Tyr30Cys)
c.372A>G (n.372A>G)
c.565A>G
c.95A>G (p.Tyr32Cys)
n.651A>G
n.864A>G
n.648A>G
n.507A>G
c.515A>G (p.Tyr172Cys)
c.4810-110363A>G (n.4810-110363A>G)
n.632A>G
n.1007A>G
n.605A>G
17g.46938693A>TCA400019106GOSR2,LRRC37A2c.572A>T (p.Tyr191Phe)
c.377A>T (p.Tyr126Phe)
c.566A>T (p.Tyr189Phe)
c.*37A>T (n.*37A>T)
c.518A>T (p.Tyr173Phe)
c.215A>T (p.Tyr72Phe)
c.325A>T
c.428A>T (p.Tyr143Phe)
c.431A>T (p.Tyr144Phe)
c.569A>T (p.Tyr190Phe)
c.62A>T (p.Tyr21Phe)
n.464A>T
c.443A>T (p.Tyr148Phe)
c.511A>T
c.89A>T (p.Tyr30Phe)
c.372A>T (n.372A>T)
c.565A>T
c.95A>T (p.Tyr32Phe)
n.651A>T
n.864A>T
n.648A>T
n.507A>T
c.515A>T (p.Tyr172Phe)
c.4810-110363A>T (n.4810-110363A>T)
n.632A>T
n.1007A>T
n.605A>T
 dbSNP gnomAD v2 gnomAD v4
17g.46938694C>ACA400019107GOSR2,LRRC37A2c.573C>A (p.Tyr191Ter)
c.378C>A (p.Tyr126Ter)
c.567C>A (p.Tyr189Ter)
c.*38C>A (n.*38C>A)
c.519C>A (p.Tyr173Ter)
c.216C>A (p.Tyr72Ter)
c.326C>A
c.429C>A (p.Tyr143Ter)
c.432C>A (p.Tyr144Ter)
c.570C>A (p.Tyr190Ter)
c.63C>A (p.Tyr21Ter)
n.465C>A
c.444C>A (p.Tyr148Ter)
c.512C>A
c.90C>A (p.Tyr30Ter)
c.373C>A (n.373C>A)
c.566C>A
c.96C>A (p.Tyr32Ter)
n.652C>A
n.865C>A
n.649C>A
n.508C>A
c.516C>A (p.Tyr172Ter)
c.4810-110362C>A (n.4810-110362C>A)
n.633C>A
n.1008C>A
n.606C>A
17g.46938694C=CA2262452877GOSR2,LRRC37A2c.573C= (p.Tyr191=)
c.378C= (p.Tyr126=)
c.567C= (p.Tyr189=)
c.*38C= (n.*38C=)
c.519C= (p.Tyr173=)
c.216C= (p.Tyr72=)
c.326C=
c.429C= (p.Tyr143=)
c.432C= (p.Tyr144=)
c.570C= (p.Tyr190=)
c.63C= (p.Tyr21=)
n.465C=
c.444C= (p.Tyr148=)
c.512C=
c.90C= (p.Tyr30=)
c.373C= (n.373C=)
c.566C=
c.96C= (p.Tyr32=)
n.652C=
n.865C=
n.649C=
n.508C=
c.516C= (p.Tyr172=)
c.4810-110362C= (n.4810-110362C=)
n.633C=
n.1008C=
n.606C=
17g.46938694C>GCA400019108GOSR2,LRRC37A2c.573C>G (p.Tyr191Ter)
c.378C>G (p.Tyr126Ter)
c.567C>G (p.Tyr189Ter)
c.*38C>G (n.*38C>G)
c.519C>G (p.Tyr173Ter)
c.216C>G (p.Tyr72Ter)
c.326C>G
c.429C>G (p.Tyr143Ter)
c.432C>G (p.Tyr144Ter)
c.570C>G (p.Tyr190Ter)
c.63C>G (p.Tyr21Ter)
n.465C>G
c.444C>G (p.Tyr148Ter)
c.512C>G
c.90C>G (p.Tyr30Ter)
c.373C>G (n.373C>G)
c.566C>G
c.96C>G (p.Tyr32Ter)
n.652C>G
n.865C>G
n.649C>G
n.508C>G
c.516C>G (p.Tyr172Ter)
c.4810-110362C>G (n.4810-110362C>G)
n.633C>G
n.1008C>G
n.606C>G
17g.46938694C>TCA500414795GOSR2,LRRC37A2c.573C>T (p.Tyr191=)
c.378C>T (p.Tyr126=)
c.567C>T (p.Tyr189=)
c.*38C>T (n.*38C>T)
c.519C>T (p.Tyr173=)
c.216C>T (p.Tyr72=)
c.326C>T
c.429C>T (p.Tyr143=)
c.432C>T (p.Tyr144=)
c.570C>T (p.Tyr190=)
c.63C>T (p.Tyr21=)
n.465C>T
c.444C>T (p.Tyr148=)
c.512C>T
c.90C>T (p.Tyr30=)
c.373C>T (n.373C>T)
c.566C>T
c.96C>T (p.Tyr32=)
n.652C>T
n.865C>T
n.649C>T
n.508C>T
c.516C>T (p.Tyr172=)
c.4810-110362C>T (n.4810-110362C>T)
n.633C>T
n.1008C>T
n.606C>T
 dbSNP gnomAD v3 gnomAD v4
17g.46938695T>ACA400019109GOSR2,LRRC37A2c.574T>A (p.Phe192Ile)
c.379T>A (p.Phe127Ile)
c.568T>A (p.Phe190Ile)
c.*39T>A (n.*39T>A)
c.520T>A (p.Phe174Ile)
c.217T>A (p.Phe73Ile)
c.327T>A
c.430T>A (p.Phe144Ile)
c.433T>A (p.Phe145Ile)
c.571T>A (p.Phe191Ile)
c.64T>A (p.Phe22Ile)
n.466T>A
c.445T>A (p.Phe149Ile)
c.513T>A
c.91T>A (p.Phe31Ile)
c.374T>A (n.374T>A)
c.567T>A
c.97T>A (p.Phe33Ile)
n.653T>A
n.866T>A
n.650T>A
n.509T>A
c.517T>A (p.Phe173Ile)
c.4810-110361T>A (n.4810-110361T>A)
n.634T>A
n.1009T>A
n.607T>A
 dbSNP gnomAD v2 gnomAD v4
17g.46938695T>CCA400019110GOSR2,LRRC37A2c.574T>C (p.Phe192Leu)
c.379T>C (p.Phe127Leu)
c.568T>C (p.Phe190Leu)
c.*39T>C (n.*39T>C)
c.520T>C (p.Phe174Leu)
c.217T>C (p.Phe73Leu)
c.327T>C
c.430T>C (p.Phe144Leu)
c.433T>C (p.Phe145Leu)
c.571T>C (p.Phe191Leu)
c.64T>C (p.Phe22Leu)
n.466T>C
c.445T>C (p.Phe149Leu)
c.513T>C
c.91T>C (p.Phe31Leu)
c.374T>C (n.374T>C)
c.567T>C
c.97T>C (p.Phe33Leu)
n.653T>C
n.866T>C
n.650T>C
n.509T>C
c.517T>C (p.Phe173Leu)
c.4810-110361T>C (n.4810-110361T>C)
n.634T>C
n.1009T>C
n.607T>C
17g.46938695T>GCA400019111GOSR2,LRRC37A2c.574T>G (p.Phe192Val)
c.379T>G (p.Phe127Val)
c.568T>G (p.Phe190Val)
c.*39T>G (n.*39T>G)
c.520T>G (p.Phe174Val)
c.217T>G (p.Phe73Val)
c.327T>G
c.430T>G (p.Phe144Val)
c.433T>G (p.Phe145Val)
c.571T>G (p.Phe191Val)
c.64T>G (p.Phe22Val)
n.466T>G
c.445T>G (p.Phe149Val)
c.513T>G
c.91T>G (p.Phe31Val)
c.374T>G (n.374T>G)
c.567T>G
c.97T>G (p.Phe33Val)
n.653T>G
n.866T>G
n.650T>G
n.509T>G
c.517T>G (p.Phe173Val)
c.4810-110361T>G (n.4810-110361T>G)
n.634T>G
n.1009T>G
n.607T>G
17g.46938695T=CA2262452878GOSR2,LRRC37A2c.574T= (p.Phe192=)
c.379T= (p.Phe127=)
c.568T= (p.Phe190=)
c.*39T= (n.*39T=)
c.520T= (p.Phe174=)
c.217T= (p.Phe73=)
c.327T=
c.430T= (p.Phe144=)
c.433T= (p.Phe145=)
c.571T= (p.Phe191=)
c.64T= (p.Phe22=)
n.466T=
c.445T= (p.Phe149=)
c.513T=
c.91T= (p.Phe31=)
c.374T= (n.374T=)
c.567T=
c.97T= (p.Phe33=)
n.653T=
n.866T=
n.650T=
n.509T=
c.517T= (p.Phe173=)
c.4810-110361T= (n.4810-110361T=)
n.634T=
n.1009T=
n.607T=
17g.46938696T>ACA400019113GOSR2,LRRC37A2c.575T>A (p.Phe192Tyr)
c.380T>A (p.Phe127Tyr)
c.569T>A (p.Phe190Tyr)
c.*40T>A (n.*40T>A)
c.521T>A (p.Phe174Tyr)
c.218T>A (p.Phe73Tyr)
c.328T>A
c.431T>A (p.Phe144Tyr)
c.434T>A (p.Phe145Tyr)
c.572T>A (p.Phe191Tyr)
c.65T>A (p.Phe22Tyr)
n.467T>A
c.446T>A (p.Phe149Tyr)
c.514T>A
c.92T>A (p.Phe31Tyr)
c.375T>A (n.375T>A)
c.568T>A
c.98T>A (p.Phe33Tyr)
n.654T>A
n.867T>A
n.651T>A
n.510T>A
c.518T>A (p.Phe173Tyr)
c.4810-110360T>A (n.4810-110360T>A)
n.635T>A
n.1010T>A
n.608T>A
17g.46938696T>CCA400019114GOSR2,LRRC37A2c.575T>C (p.Phe192Ser)
c.380T>C (p.Phe127Ser)
c.569T>C (p.Phe190Ser)
c.*40T>C (n.*40T>C)
c.521T>C (p.Phe174Ser)
c.218T>C (p.Phe73Ser)
c.328T>C
c.431T>C (p.Phe144Ser)
c.434T>C (p.Phe145Ser)
c.572T>C (p.Phe191Ser)
c.65T>C (p.Phe22Ser)
n.467T>C
c.446T>C (p.Phe149Ser)
c.514T>C
c.92T>C (p.Phe31Ser)
c.375T>C (n.375T>C)
c.568T>C
c.98T>C (p.Phe33Ser)
n.654T>C
n.867T>C
n.651T>C
n.510T>C
c.518T>C (p.Phe173Ser)
c.4810-110360T>C (n.4810-110360T>C)
n.635T>C
n.1010T>C
n.608T>C
17g.46938696T>GCA400019112GOSR2,LRRC37A2c.575T>G (p.Phe192Cys)
c.380T>G (p.Phe127Cys)
c.569T>G (p.Phe190Cys)
c.*40T>G (n.*40T>G)
c.521T>G (p.Phe174Cys)
c.218T>G (p.Phe73Cys)
c.328T>G
c.431T>G (p.Phe144Cys)
c.434T>G (p.Phe145Cys)
c.572T>G (p.Phe191Cys)
c.65T>G (p.Phe22Cys)
n.467T>G
c.446T>G (p.Phe149Cys)
c.514T>G
c.92T>G (p.Phe31Cys)
c.375T>G (n.375T>G)
c.568T>G
c.98T>G (p.Phe33Cys)
n.654T>G
n.867T>G
n.651T>G
n.510T>G
c.518T>G (p.Phe173Cys)
c.4810-110360T>G (n.4810-110360T>G)
n.635T>G
n.1010T>G
n.608T>G
17g.46938697T>ACA400019115GOSR2,LRRC37A2c.576T>A (p.Phe192Leu)
c.381T>A (p.Phe127Leu)
c.570T>A (p.Phe190Leu)
c.*41T>A (n.*41T>A)
c.522T>A (p.Phe174Leu)
c.219T>A (p.Phe73Leu)
c.329T>A
c.432T>A (p.Phe144Leu)
c.435T>A (p.Phe145Leu)
c.573T>A (p.Phe191Leu)
c.66T>A (p.Phe22Leu)
n.468T>A
c.447T>A (p.Phe149Leu)
c.515T>A
c.93T>A (p.Phe31Leu)
c.376T>A (n.376T>A)
c.569T>A
c.99T>A (p.Phe33Leu)
n.655T>A
n.868T>A
n.652T>A
n.511T>A
c.519T>A (p.Phe173Leu)
c.4810-110359T>A (n.4810-110359T>A)
n.636T>A
n.1011T>A
n.609T>A
17g.46938697T>CCA500414807GOSR2,LRRC37A2c.576T>C (p.Phe192=)
c.381T>C (p.Phe127=)
c.570T>C (p.Phe190=)
c.*41T>C (n.*41T>C)
c.522T>C (p.Phe174=)
c.219T>C (p.Phe73=)
c.329T>C
c.432T>C (p.Phe144=)
c.435T>C (p.Phe145=)
c.573T>C (p.Phe191=)
c.66T>C (p.Phe22=)
n.468T>C
c.447T>C (p.Phe149=)
c.515T>C
c.93T>C (p.Phe31=)
c.376T>C (n.376T>C)
c.569T>C
c.99T>C (p.Phe33=)
n.655T>C
n.868T>C
n.652T>C
n.511T>C
c.519T>C (p.Phe173=)
c.4810-110359T>C (n.4810-110359T>C)
n.636T>C
n.1011T>C
n.609T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46938697T>GCA400019116GOSR2,LRRC37A2c.576T>G (p.Phe192Leu)
c.381T>G (p.Phe127Leu)
c.570T>G (p.Phe190Leu)
c.*41T>G (n.*41T>G)
c.522T>G (p.Phe174Leu)
c.219T>G (p.Phe73Leu)
c.329T>G
c.432T>G (p.Phe144Leu)
c.435T>G (p.Phe145Leu)
c.573T>G (p.Phe191Leu)
c.66T>G (p.Phe22Leu)
n.468T>G
c.447T>G (p.Phe149Leu)
c.515T>G
c.93T>G (p.Phe31Leu)
c.376T>G (n.376T>G)
c.569T>G
c.99T>G (p.Phe33Leu)
n.655T>G
n.868T>G
n.652T>G
n.511T>G
c.519T>G (p.Phe173Leu)
c.4810-110359T>G (n.4810-110359T>G)
n.636T>G
n.1011T>G
n.609T>G
17g.46938697T=CA2262452879GOSR2,LRRC37A2c.576T= (p.Phe192=)
c.381T= (p.Phe127=)
c.570T= (p.Phe190=)
c.*41T= (n.*41T=)
c.522T= (p.Phe174=)
c.219T= (p.Phe73=)
c.329T=
c.432T= (p.Phe144=)
c.435T= (p.Phe145=)
c.573T= (p.Phe191=)
c.66T= (p.Phe22=)
n.468T=
c.447T= (p.Phe149=)
c.515T=
c.93T= (p.Phe31=)
c.376T= (n.376T=)
c.569T=
c.99T= (p.Phe33=)
n.655T=
n.868T=
n.652T=
n.511T=
c.519T= (p.Phe173=)
c.4810-110359T= (n.4810-110359T=)
n.636T=
n.1011T=
n.609T=
17g.46938698A>CCA400019117GOSR2,LRRC37A2c.577A>C (p.Met193Leu)
c.382A>C (p.Met128Leu)
c.571A>C (p.Met191Leu)
c.*42A>C (n.*42A>C)
c.523A>C (p.Met175Leu)
c.220A>C (p.Met74Leu)
c.330A>C
c.433A>C (p.Met145Leu)
c.436A>C (p.Met146Leu)
c.574A>C (p.Met192Leu)
c.67A>C (p.Met23Leu)
n.469A>C
c.448A>C (p.Met150Leu)
c.516A>C
c.94A>C (p.Met32Leu)
c.377A>C (n.377A>C)
c.570A>C
c.100A>C (p.Met34Leu)
n.656A>C
n.869A>C
n.653A>C
n.512A>C
c.520A>C (p.Met174Leu)
c.4810-110358A>C (n.4810-110358A>C)
n.637A>C
n.1012A>C
n.610A>C
17g.46938698A>GCA400019118GOSR2,LRRC37A2c.577A>G (p.Met193Val)
c.382A>G (p.Met128Val)
c.571A>G (p.Met191Val)
c.*42A>G (n.*42A>G)
c.523A>G (p.Met175Val)
c.220A>G (p.Met74Val)
c.330A>G
c.433A>G (p.Met145Val)
c.436A>G (p.Met146Val)
c.574A>G (p.Met192Val)
c.67A>G (p.Met23Val)
n.469A>G
c.448A>G (p.Met150Val)
c.516A>G
c.94A>G (p.Met32Val)
c.377A>G (n.377A>G)
c.570A>G
c.100A>G (p.Met34Val)
n.656A>G
n.869A>G
n.653A>G
n.512A>G
c.520A>G (p.Met174Val)
c.4810-110358A>G (n.4810-110358A>G)
n.637A>G
n.1012A>G
n.610A>G
 gnomAD v4
17g.46938698A>TCA400019119GOSR2,LRRC37A2c.577A>T (p.Met193Leu)
c.382A>T (p.Met128Leu)
c.571A>T (p.Met191Leu)
c.*42A>T (n.*42A>T)
c.523A>T (p.Met175Leu)
c.220A>T (p.Met74Leu)
c.330A>T
c.433A>T (p.Met145Leu)
c.436A>T (p.Met146Leu)
c.574A>T (p.Met192Leu)
c.67A>T (p.Met23Leu)
n.469A>T
c.448A>T (p.Met150Leu)
c.516A>T
c.94A>T (p.Met32Leu)
c.377A>T (n.377A>T)
c.570A>T
c.100A>T (p.Met34Leu)
n.656A>T
n.869A>T
n.653A>T
n.512A>T
c.520A>T (p.Met174Leu)
c.4810-110358A>T (n.4810-110358A>T)
n.637A>T
n.1012A>T
n.610A>T
 gnomAD v4
17g.46938699T>ACA400019120GOSR2,LRRC37A2c.578T>A (p.Met193Lys)
c.383T>A (p.Met128Lys)
c.572T>A (p.Met191Lys)
c.*43T>A (n.*43T>A)
c.524T>A (p.Met175Lys)
c.221T>A (p.Met74Lys)
c.331T>A
c.434T>A (p.Met145Lys)
c.437T>A (p.Met146Lys)
c.575T>A (p.Met192Lys)
c.68T>A (p.Met23Lys)
n.470T>A
c.449T>A (p.Met150Lys)
c.517T>A
c.95T>A (p.Met32Lys)
c.378T>A (n.378T>A)
c.571T>A
c.101T>A (p.Met34Lys)
n.657T>A
n.870T>A
n.654T>A
n.513T>A
c.521T>A (p.Met174Lys)
c.4810-110357T>A (n.4810-110357T>A)
n.638T>A
n.1013T>A
n.611T>A
17g.46938699T>CCA400019121GOSR2,LRRC37A2c.578T>C (p.Met193Thr)
c.383T>C (p.Met128Thr)
c.572T>C (p.Met191Thr)
c.*43T>C (n.*43T>C)
c.524T>C (p.Met175Thr)
c.221T>C (p.Met74Thr)
c.331T>C
c.434T>C (p.Met145Thr)
c.437T>C (p.Met146Thr)
c.575T>C (p.Met192Thr)
c.68T>C (p.Met23Thr)
n.470T>C
c.449T>C (p.Met150Thr)
c.517T>C
c.95T>C (p.Met32Thr)
c.378T>C (n.378T>C)
c.571T>C
c.101T>C (p.Met34Thr)
n.657T>C
n.870T>C
n.654T>C
n.513T>C
c.521T>C (p.Met174Thr)
c.4810-110357T>C (n.4810-110357T>C)
n.638T>C
n.1013T>C
n.611T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46938699T>GCA400019122GOSR2,LRRC37A2c.578T>G (p.Met193Arg)
c.383T>G (p.Met128Arg)
c.572T>G (p.Met191Arg)
c.*43T>G (n.*43T>G)
c.524T>G (p.Met175Arg)
c.221T>G (p.Met74Arg)
c.331T>G
c.434T>G (p.Met145Arg)
c.437T>G (p.Met146Arg)
c.575T>G (p.Met192Arg)
c.68T>G (p.Met23Arg)
n.470T>G
c.449T>G (p.Met150Arg)
c.517T>G
c.95T>G (p.Met32Arg)
c.378T>G (n.378T>G)
c.571T>G
c.101T>G (p.Met34Arg)
n.657T>G
n.870T>G
n.654T>G
n.513T>G
c.521T>G (p.Met174Arg)
c.4810-110357T>G (n.4810-110357T>G)
n.638T>G
n.1013T>G
n.611T>G
17g.46938699T=CA2262452880GOSR2,LRRC37A2c.578T= (p.Met193=)
c.383T= (p.Met128=)
c.572T= (p.Met191=)
c.*43T= (n.*43T=)
c.524T= (p.Met175=)
c.221T= (p.Met74=)
c.331T=
c.434T= (p.Met145=)
c.437T= (p.Met146=)
c.575T= (p.Met192=)
c.68T= (p.Met23=)
n.470T=
c.449T= (p.Met150=)
c.517T=
c.95T= (p.Met32=)
c.378T= (n.378T=)
c.571T=
c.101T= (p.Met34=)
n.657T=
n.870T=
n.654T=
n.513T=
c.521T= (p.Met174=)
c.4810-110357T= (n.4810-110357T=)
n.638T=
n.1013T=
n.611T=
17g.46938700G>ACA8621359GOSR2,LRRC37A2c.579G>A (p.Met193Ile)
c.384G>A (p.Met128Ile)
c.573G>A (p.Met191Ile)
c.*44G>A (n.*44G>A)
c.525G>A (p.Met175Ile)
c.222G>A (p.Met74Ile)
c.332G>A
c.435G>A (p.Met145Ile)
c.438G>A (p.Met146Ile)
c.576G>A (p.Met192Ile)
c.69G>A (p.Met23Ile)
n.471G>A
c.450G>A (p.Met150Ile)
c.518G>A
c.96G>A (p.Met32Ile)
c.379G>A (n.379G>A)
c.572G>A
c.102G>A (p.Met34Ile)
n.658G>A
n.871G>A
n.655G>A
n.514G>A
c.522G>A (p.Met174Ile)
c.4810-110356G>A (n.4810-110356G>A)
n.639G>A
n.1014G>A
n.612G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46938700G>CCA400019123GOSR2,LRRC37A2c.579G>C (p.Met193Ile)
c.384G>C (p.Met128Ile)
c.573G>C (p.Met191Ile)
c.*44G>C (n.*44G>C)
c.525G>C (p.Met175Ile)
c.222G>C (p.Met74Ile)
c.332G>C
c.435G>C (p.Met145Ile)
c.438G>C (p.Met146Ile)
c.576G>C (p.Met192Ile)
c.69G>C (p.Met23Ile)
n.471G>C
c.450G>C (p.Met150Ile)
c.518G>C
c.96G>C (p.Met32Ile)
c.379G>C (n.379G>C)
c.572G>C
c.102G>C (p.Met34Ile)
n.658G>C
n.871G>C
n.655G>C
n.514G>C
c.522G>C (p.Met174Ile)
c.4810-110356G>C (n.4810-110356G>C)
n.639G>C
n.1014G>C
n.612G>C
17g.46938700G=CA2262452881GOSR2,LRRC37A2c.579G= (p.Met193=)
c.384G= (p.Met128=)
c.573G= (p.Met191=)
c.*44G= (n.*44G=)
c.525G= (p.Met175=)
c.222G= (p.Met74=)
c.332G=
c.435G= (p.Met145=)
c.438G= (p.Met146=)
c.576G= (p.Met192=)
c.69G= (p.Met23=)
n.471G=
c.450G= (p.Met150=)
c.518G=
c.96G= (p.Met32=)
c.379G= (n.379G=)
c.572G=
c.102G= (p.Met34=)
n.658G=
n.871G=
n.655G=
n.514G=
c.522G= (p.Met174=)
c.4810-110356G= (n.4810-110356G=)
n.639G=
n.1014G=
n.612G=
17g.46938700G>TCA400019124GOSR2,LRRC37A2c.579G>T (p.Met193Ile)
c.384G>T (p.Met128Ile)
c.573G>T (p.Met191Ile)
c.*44G>T (n.*44G>T)
c.525G>T (p.Met175Ile)
c.222G>T (p.Met74Ile)
c.332G>T
c.435G>T (p.Met145Ile)
c.438G>T (p.Met146Ile)
c.576G>T (p.Met192Ile)
c.69G>T (p.Met23Ile)
n.471G>T
c.450G>T (p.Met150Ile)
c.518G>T
c.96G>T (p.Met32Ile)
c.379G>T (n.379G>T)
c.572G>T
c.102G>T (p.Met34Ile)
n.658G>T
n.871G>T
n.655G>T
n.514G>T
c.522G>T (p.Met174Ile)
c.4810-110356G>T (n.4810-110356G>T)
n.639G>T
n.1014G>T
n.612G>T
 dbSNP gnomAD v3 gnomAD v4
17g.46938703_46938711delCA2638414438GOSR2,LRRC37A2c.582_583+7del
c.387_395del (p.Ile129_Gly131del)
c.576_584del (p.Ile192_Gly194del)
c.*47_*55del (n.*47_*55del)
c.528_536del (p.Ile176_Gly178del)
c.225_233del (p.Ile75_Gly77del)
c.335_336+7del
c.438_446del (p.Ile146_Gly148del)
c.441_442+7del
c.579_587del (p.Ile193_Gly195del)
c.72_80del (p.Ile24_Gly26del)
n.474_475+7del
c.528_529+7del
c.453_454+7del
c.582_590del (p.Ile194_Gly196del)
c.441_449del (p.Ile147_Gly149del)
c.*47_*48+7del
c.521_522+7del
c.99_100+7del
c.382_390del (n.382_390del)
c.575_583del
c.387_388+7del
c.105_106+7del
n.661_662+7del
n.874_875+7del
c.438_439+7del
n.658_659+7del
n.517_518+7del
c.579_580+7del
c.525_526+7del
c.4810-110353_4810-110345del (n.4810-110353_4810-110345del)
n.642_643+7del
n.1017_1018+7del
n.615_616+7del
 gnomAD v4
17g.46938701A=CA2262452882GOSR2,LRRC37A2c.580A= (p.Ile194=)
c.385A= (p.Ile129=)
c.574A= (p.Ile192=)
c.*45A= (n.*45A=)
c.526A= (p.Ile176=)
c.223A= (p.Ile75=)
c.333A=
c.436A= (p.Ile146=)
c.439A= (p.Ile147=)
c.577A= (p.Ile193=)
c.70A= (p.Ile24=)
n.472A=
c.451A= (p.Ile151=)
c.519A=
c.97A= (p.Ile33=)
c.380A= (n.380A=)
c.573A=
c.103A= (p.Ile35=)
n.659A=
n.872A=
n.656A=
n.515A=
c.523A= (p.Ile175=)
c.4810-110355A= (n.4810-110355A=)
n.640A=
n.1015A=
n.613A=
17g.46938701A>CCA400019126GOSR2,LRRC37A2c.580A>C (p.Ile194Leu)
c.385A>C (p.Ile129Leu)
c.574A>C (p.Ile192Leu)
c.*45A>C (n.*45A>C)
c.526A>C (p.Ile176Leu)
c.223A>C (p.Ile75Leu)
c.333A>C
c.436A>C (p.Ile146Leu)
c.439A>C (p.Ile147Leu)
c.577A>C (p.Ile193Leu)
c.70A>C (p.Ile24Leu)
n.472A>C
c.451A>C (p.Ile151Leu)
c.519A>C
c.97A>C (p.Ile33Leu)
c.380A>C (n.380A>C)
c.573A>C
c.103A>C (p.Ile35Leu)
n.659A>C
n.872A>C
n.656A>C
n.515A>C
c.523A>C (p.Ile175Leu)
c.4810-110355A>C (n.4810-110355A>C)
n.640A>C
n.1015A>C
n.613A>C
17g.46938701A>GCA8621360GOSR2,LRRC37A2c.580A>G (p.Ile194Val)
c.385A>G (p.Ile129Val)
c.574A>G (p.Ile192Val)
c.*45A>G (n.*45A>G)
c.526A>G (p.Ile176Val)
c.223A>G (p.Ile75Val)
c.333A>G
c.436A>G (p.Ile146Val)
c.439A>G (p.Ile147Val)
c.577A>G (p.Ile193Val)
c.70A>G (p.Ile24Val)
n.472A>G
c.451A>G (p.Ile151Val)
c.519A>G
c.97A>G (p.Ile33Val)
c.380A>G (n.380A>G)
c.573A>G
c.103A>G (p.Ile35Val)
n.659A>G
n.872A>G
n.656A>G
n.515A>G
c.523A>G (p.Ile175Val)
c.4810-110355A>G (n.4810-110355A>G)
n.640A>G
n.1015A>G
n.613A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46938701A>TCA400019125GOSR2,LRRC37A2c.580A>T (p.Ile194Leu)
c.385A>T (p.Ile129Leu)
c.574A>T (p.Ile192Leu)
c.*45A>T (n.*45A>T)
c.526A>T (p.Ile176Leu)
c.223A>T (p.Ile75Leu)
c.333A>T
c.436A>T (p.Ile146Leu)
c.439A>T (p.Ile147Leu)
c.577A>T (p.Ile193Leu)
c.70A>T (p.Ile24Leu)
n.472A>T
c.451A>T (p.Ile151Leu)
c.519A>T
c.97A>T (p.Ile33Leu)
c.380A>T (n.380A>T)
c.573A>T
c.103A>T (p.Ile35Leu)
n.659A>T
n.872A>T
n.656A>T
n.515A>T
c.523A>T (p.Ile175Leu)
c.4810-110355A>T (n.4810-110355A>T)
n.640A>T
n.1015A>T
n.613A>T
17g.46938702T>ACA400019127GOSR2,LRRC37A2c.581T>A (p.Ile194Lys)
c.386T>A (p.Ile129Lys)
c.575T>A (p.Ile192Lys)
c.*46T>A (n.*46T>A)
c.527T>A (p.Ile176Lys)
c.224T>A (p.Ile75Lys)
c.334T>A
c.437T>A (p.Ile146Lys)
c.440T>A (p.Ile147Lys)
c.578T>A (p.Ile193Lys)
c.71T>A (p.Ile24Lys)
n.473T>A
c.452T>A (p.Ile151Lys)
c.520T>A
c.98T>A (p.Ile33Lys)
c.381T>A (n.381T>A)
c.574T>A
c.104T>A (p.Ile35Lys)
n.660T>A
n.873T>A
n.657T>A
n.516T>A
c.524T>A (p.Ile175Lys)
c.4810-110354T>A (n.4810-110354T>A)
n.641T>A
n.1016T>A
n.614T>A
17g.46938702T>CCA400019128GOSR2,LRRC37A2c.581T>C (p.Ile194Thr)
c.386T>C (p.Ile129Thr)
c.575T>C (p.Ile192Thr)
c.*46T>C (n.*46T>C)
c.527T>C (p.Ile176Thr)
c.224T>C (p.Ile75Thr)
c.334T>C
c.437T>C (p.Ile146Thr)
c.440T>C (p.Ile147Thr)
c.578T>C (p.Ile193Thr)
c.71T>C (p.Ile24Thr)
n.473T>C
c.452T>C (p.Ile151Thr)
c.520T>C
c.98T>C (p.Ile33Thr)
c.381T>C (n.381T>C)
c.574T>C
c.104T>C (p.Ile35Thr)
n.660T>C
n.873T>C
n.657T>C
n.516T>C
c.524T>C (p.Ile175Thr)
c.4810-110354T>C (n.4810-110354T>C)
n.641T>C
n.1016T>C
n.614T>C
17g.46938702T>GCA400019129GOSR2,LRRC37A2c.581T>G (p.Ile194Arg)
c.386T>G (p.Ile129Arg)
c.575T>G (p.Ile192Arg)
c.*46T>G (n.*46T>G)
c.527T>G (p.Ile176Arg)
c.224T>G (p.Ile75Arg)
c.334T>G
c.437T>G (p.Ile146Arg)
c.440T>G (p.Ile147Arg)
c.578T>G (p.Ile193Arg)
c.71T>G (p.Ile24Arg)
n.473T>G
c.452T>G (p.Ile151Arg)
c.520T>G
c.98T>G (p.Ile33Arg)
c.381T>G (n.381T>G)
c.574T>G
c.104T>G (p.Ile35Arg)
n.660T>G
n.873T>G
n.657T>G
n.516T>G
c.524T>G (p.Ile175Arg)
c.4810-110354T>G (n.4810-110354T>G)
n.641T>G
n.1016T>G
n.614T>G
17g.46938703A>CCA500414837GOSR2,LRRC37A2c.582A>C (p.Ile194=)
c.387A>C (p.Ile129=)
c.576A>C (p.Ile192=)
c.*47A>C (n.*47A>C)
c.528A>C (p.Ile176=)
c.225A>C (p.Ile75=)
c.335A>C
c.438A>C (p.Ile146=)
c.441A>C (p.Ile147=)
c.579A>C (p.Ile193=)
c.72A>C (p.Ile24=)
n.474A>C
c.453A>C (p.Ile151=)
c.521A>C
c.99A>C (p.Ile33=)
c.382A>C (n.382A>C)
c.575A>C
c.105A>C (p.Ile35=)
n.661A>C
n.874A>C
n.658A>C
n.517A>C
c.525A>C (p.Ile175=)
c.4810-110353A>C (n.4810-110353A>C)
n.642A>C
n.1017A>C
n.615A>C
17g.46938703A>GCA400019130GOSR2,LRRC37A2c.582A>G (p.Ile194Met)
c.387A>G (p.Ile129Met)
c.576A>G (p.Ile192Met)
c.*47A>G (n.*47A>G)
c.528A>G (p.Ile176Met)
c.225A>G (p.Ile75Met)
c.335A>G
c.438A>G (p.Ile146Met)
c.441A>G (p.Ile147Met)
c.579A>G (p.Ile193Met)
c.72A>G (p.Ile24Met)
n.474A>G
c.453A>G (p.Ile151Met)
c.521A>G
c.99A>G (p.Ile33Met)
c.382A>G (n.382A>G)
c.575A>G
c.105A>G (p.Ile35Met)
n.661A>G
n.874A>G
n.658A>G
n.517A>G
c.525A>G (p.Ile175Met)
c.4810-110353A>G (n.4810-110353A>G)
n.642A>G
n.1017A>G
n.615A>G
17g.46938703A>TCA500414834GOSR2,LRRC37A2c.582A>T (p.Ile194=)
c.387A>T (p.Ile129=)
c.576A>T (p.Ile192=)
c.*47A>T (n.*47A>T)
c.528A>T (p.Ile176=)
c.225A>T (p.Ile75=)
c.335A>T
c.438A>T (p.Ile146=)
c.441A>T (p.Ile147=)
c.579A>T (p.Ile193=)
c.72A>T (p.Ile24=)
n.474A>T
c.453A>T (p.Ile151=)
c.521A>T
c.99A>T (p.Ile33=)
c.382A>T (n.382A>T)
c.575A>T
c.105A>T (p.Ile35=)
n.661A>T
n.874A>T
n.658A>T
n.517A>T
c.525A>T (p.Ile175=)
c.4810-110353A>T (n.4810-110353A>T)
n.642A>T
n.1017A>T
n.615A>T
17g.46938704G>ACA400019133GOSR2,LRRC37A2c.583G>A (p.Gly195Ser)
c.388G>A (p.Gly130Ser)
c.583G>A (p.Glu195Lys)
c.577G>A (p.Gly193Ser)
c.*48G>A (n.*48G>A)
c.529G>A (p.Gly177Ser)
c.583G>A (p.Ala195Thr)
c.226G>A (p.Gly76Ser)
c.336G>A
c.439G>A (p.Gly147Ser)
c.442G>A (p.Ala148Thr)
c.580G>A (p.Gly194Ser)
c.73G>A (p.Gly25Ser)
n.475G>A
c.442G>A (p.Glu148Lys)
c.529G>A (p.Glu177Lys)
c.454G>A (p.Ala152Thr)
c.442G>A (p.Gly148Ser)
c.522G>A
c.583G>A (p.Asp195Asn)
c.100G>A (p.Glu34Lys)
c.383G>A (n.383G>A)
c.576G>A
c.388G>A (p.Asp130Asn)
c.106G>A (p.Glu36Lys)
c.529G>A (p.Asp177Asn)
c.442G>A (p.Asp148Asn)
n.662G>A
n.875G>A
n.659G>A
n.518G>A
c.580G>A (p.Glu194Lys)
c.526G>A (p.Glu176Lys)
c.439G>A (p.Glu147Lys)
c.4810-110352G>A (n.4810-110352G>A)
n.643G>A
n.1018G>A
n.616G>A
 gnomAD v4
17g.46938704G>CCA400019132GOSR2,LRRC37A2c.583G>C (p.Gly195Arg)
c.388G>C (p.Gly130Arg)
c.583G>C (p.Glu195Gln)
c.577G>C (p.Gly193Arg)
c.*48G>C (n.*48G>C)
c.529G>C (p.Gly177Arg)
c.583G>C (p.Ala195Pro)
c.226G>C (p.Gly76Arg)
c.336G>C
c.439G>C (p.Gly147Arg)
c.442G>C (p.Ala148Pro)
c.580G>C (p.Gly194Arg)
c.73G>C (p.Gly25Arg)
n.475G>C
c.442G>C (p.Glu148Gln)
c.529G>C (p.Glu177Gln)
c.454G>C (p.Ala152Pro)
c.442G>C (p.Gly148Arg)
c.522G>C
c.583G>C (p.Asp195His)
c.100G>C (p.Glu34Gln)
c.383G>C (n.383G>C)
c.576G>C
c.388G>C (p.Asp130His)
c.106G>C (p.Glu36Gln)
c.529G>C (p.Asp177His)
c.442G>C (p.Asp148His)
n.662G>C
n.875G>C
n.659G>C
n.518G>C
c.580G>C (p.Glu194Gln)
c.526G>C (p.Glu176Gln)
c.439G>C (p.Glu147Gln)
c.4810-110352G>C (n.4810-110352G>C)
n.643G>C
n.1018G>C
n.616G>C
17g.46938704G>TCA400019131GOSR2,LRRC37A2c.583G>T (p.Gly195Cys)
c.388G>T (p.Gly130Cys)
c.583G>T (p.Glu195Ter)
c.577G>T (p.Gly193Cys)
c.*48G>T (n.*48G>T)
c.529G>T (p.Gly177Cys)
c.583G>T (p.Ala195Ser)
c.226G>T (p.Gly76Cys)
c.336G>T
c.439G>T (p.Gly147Cys)
c.442G>T (p.Ala148Ser)
c.580G>T (p.Gly194Cys)
c.73G>T (p.Gly25Cys)
n.475G>T
c.442G>T (p.Glu148Ter)
c.529G>T (p.Glu177Ter)
c.454G>T (p.Ala152Ser)
c.442G>T (p.Gly148Cys)
c.522G>T
c.583G>T (p.Asp195Tyr)
c.100G>T (p.Glu34Ter)
c.383G>T (n.383G>T)
c.576G>T
c.388G>T (p.Asp130Tyr)
c.106G>T (p.Glu36Ter)
c.529G>T (p.Asp177Tyr)
c.442G>T (p.Asp148Tyr)
n.662G>T
n.875G>T
n.659G>T
n.518G>T
c.580G>T (p.Glu194Ter)
c.526G>T (p.Glu176Ter)
c.439G>T (p.Glu147Ter)
c.4810-110352G>T (n.4810-110352G>T)
n.643G>T
n.1018G>T
n.616G>T
 gnomAD v4
17g.46938705G>ACA400019134GOSR2,LRRC37A2c.583+1G>A (n.583+1G>A)
c.389G>A (p.Gly130Asp)
c.578G>A (p.Gly193Asp)
c.*49G>A (n.*49G>A)
c.530G>A (p.Gly177Asp)
c.227G>A (p.Gly76Asp)
c.336+1G>A
c.440G>A (p.Gly147Asp)
c.442+1G>A (n.442+1G>A)
c.581G>A (p.Gly194Asp)
c.74G>A (p.Gly25Asp)
n.475+1G>A
c.529+1G>A (n.529+1G>A)
c.454+1G>A (n.454+1G>A)
c.584G>A (p.Gly195Asp)
c.443G>A (p.Gly148Asp)
c.*48+1G>A (n.*48+1G>A)
c.522+1G>A
c.100+1G>A (n.100+1G>A)
c.384G>A (n.384G>A)
c.577G>A
c.388+1G>A (n.388+1G>A)
c.106+1G>A (n.106+1G>A)
n.662+1G>A
n.875+1G>A
c.439+1G>A (n.439+1G>A)
n.659+1G>A
n.518+1G>A
c.580+1G>A (n.580+1G>A)
c.526+1G>A (n.526+1G>A)
c.4810-110351G>A (n.4810-110351G>A)
n.643+1G>A
n.1018+1G>A
n.616+1G>A
 gnomAD v4
17g.46938705G>CCA400019135GOSR2,LRRC37A2c.583+1G>C (n.583+1G>C)
c.389G>C (p.Gly130Ala)
c.578G>C (p.Gly193Ala)
c.*49G>C (n.*49G>C)
c.530G>C (p.Gly177Ala)
c.227G>C (p.Gly76Ala)
c.336+1G>C
c.440G>C (p.Gly147Ala)
c.442+1G>C (n.442+1G>C)
c.581G>C (p.Gly194Ala)
c.74G>C (p.Gly25Ala)
n.475+1G>C
c.529+1G>C (n.529+1G>C)
c.454+1G>C (n.454+1G>C)
c.584G>C (p.Gly195Ala)
c.443G>C (p.Gly148Ala)
c.*48+1G>C (n.*48+1G>C)
c.522+1G>C
c.100+1G>C (n.100+1G>C)
c.384G>C (n.384G>C)
c.577G>C
c.388+1G>C (n.388+1G>C)
c.106+1G>C (n.106+1G>C)
n.662+1G>C
n.875+1G>C
c.439+1G>C (n.439+1G>C)
n.659+1G>C
n.518+1G>C
c.580+1G>C (n.580+1G>C)
c.526+1G>C (n.526+1G>C)
c.4810-110351G>C (n.4810-110351G>C)
n.643+1G>C
n.1018+1G>C
n.616+1G>C
17g.46938705G>TCA400019136GOSR2,LRRC37A2c.583+1G>T (n.583+1G>T)
c.389G>T (p.Gly130Val)
c.578G>T (p.Gly193Val)
c.*49G>T (n.*49G>T)
c.530G>T (p.Gly177Val)
c.227G>T (p.Gly76Val)
c.336+1G>T
c.440G>T (p.Gly147Val)
c.442+1G>T (n.442+1G>T)
c.581G>T (p.Gly194Val)
c.74G>T (p.Gly25Val)
n.475+1G>T
c.529+1G>T (n.529+1G>T)
c.454+1G>T (n.454+1G>T)
c.584G>T (p.Gly195Val)
c.443G>T (p.Gly148Val)
c.*48+1G>T (n.*48+1G>T)
c.522+1G>T
c.100+1G>T (n.100+1G>T)
c.384G>T (n.384G>T)
c.577G>T
c.388+1G>T (n.388+1G>T)
c.106+1G>T (n.106+1G>T)
n.662+1G>T
n.875+1G>T
c.439+1G>T (n.439+1G>T)
n.659+1G>T
n.518+1G>T
c.580+1G>T (n.580+1G>T)
c.526+1G>T (n.526+1G>T)
c.4810-110351G>T (n.4810-110351G>T)
n.643+1G>T
n.1018+1G>T
n.616+1G>T
17g.46938706T>ACA400019137GOSR2,LRRC37A2c.583+2T>A (n.583+2T>A)
c.390T>A (p.Gly130=)
c.579T>A (p.Gly193=)
c.*50T>A (n.*50T>A)
c.531T>A (p.Gly177=)
c.228T>A (p.Gly76=)
c.336+2T>A
c.441T>A (p.Gly147=)
c.442+2T>A (n.442+2T>A)
c.582T>A (p.Gly194=)
c.75T>A (p.Gly25=)
n.475+2T>A
c.529+2T>A (n.529+2T>A)
c.454+2T>A (n.454+2T>A)
c.585T>A (p.Gly195=)
c.444T>A (p.Gly148=)
c.*48+2T>A (n.*48+2T>A)
c.522+2T>A
c.100+2T>A (n.100+2T>A)
c.385T>A (n.385T>A)
c.578T>A
c.388+2T>A (n.388+2T>A)
c.106+2T>A (n.106+2T>A)
n.662+2T>A
n.875+2T>A
c.439+2T>A (n.439+2T>A)
n.659+2T>A
n.518+2T>A
c.580+2T>A (n.580+2T>A)
c.526+2T>A (n.526+2T>A)
c.4810-110350T>A (n.4810-110350T>A)
n.643+2T>A
n.1018+2T>A
n.616+2T>A
17g.46938706T>CCA400019138GOSR2,LRRC37A2c.583+2T>C (n.583+2T>C)
c.390T>C (p.Gly130=)
c.579T>C (p.Gly193=)
c.*50T>C (n.*50T>C)
c.531T>C (p.Gly177=)
c.228T>C (p.Gly76=)
c.336+2T>C
c.441T>C (p.Gly147=)
c.442+2T>C (n.442+2T>C)
c.582T>C (p.Gly194=)
c.75T>C (p.Gly25=)
n.475+2T>C
c.529+2T>C (n.529+2T>C)
c.454+2T>C (n.454+2T>C)
c.585T>C (p.Gly195=)
c.444T>C (p.Gly148=)
c.*48+2T>C (n.*48+2T>C)
c.522+2T>C
c.100+2T>C (n.100+2T>C)
c.385T>C (n.385T>C)
c.578T>C
c.388+2T>C (n.388+2T>C)
c.106+2T>C (n.106+2T>C)
n.662+2T>C
n.875+2T>C
c.439+2T>C (n.439+2T>C)
n.659+2T>C
n.518+2T>C
c.580+2T>C (n.580+2T>C)
c.526+2T>C (n.526+2T>C)
c.4810-110350T>C (n.4810-110350T>C)
n.643+2T>C
n.1018+2T>C
n.616+2T>C
17g.46938706T>GCA400019139GOSR2,LRRC37A2c.583+2T>G (n.583+2T>G)
c.390T>G (p.Gly130=)
c.579T>G (p.Gly193=)
c.*50T>G (n.*50T>G)
c.531T>G (p.Gly177=)
c.228T>G (p.Gly76=)
c.336+2T>G
c.441T>G (p.Gly147=)
c.442+2T>G (n.442+2T>G)
c.582T>G (p.Gly194=)
c.75T>G (p.Gly25=)
n.475+2T>G
c.529+2T>G (n.529+2T>G)
c.454+2T>G (n.454+2T>G)
c.585T>G (p.Gly195=)
c.444T>G (p.Gly148=)
c.*48+2T>G (n.*48+2T>G)
c.522+2T>G
c.100+2T>G (n.100+2T>G)
c.385T>G (n.385T>G)
c.578T>G
c.388+2T>G (n.388+2T>G)
c.106+2T>G (n.106+2T>G)
n.662+2T>G
n.875+2T>G
c.439+2T>G (n.439+2T>G)
n.659+2T>G
n.518+2T>G
c.580+2T>G (n.580+2T>G)
c.526+2T>G (n.526+2T>G)
c.4810-110350T>G (n.4810-110350T>G)
n.643+2T>G
n.1018+2T>G
n.616+2T>G
17g.46938707G>ACA400019142GOSR2,LRRC37A2c.583+3G>A (n.583+3G>A)
c.391G>A (p.Gly131Arg)
c.580G>A (p.Gly194Arg)
c.*51G>A (n.*51G>A)
c.532G>A (p.Gly178Arg)
c.229G>A (p.Gly77Arg)
c.336+3G>A
c.442G>A (p.Gly148Arg)
c.442+3G>A (n.442+3G>A)
c.583G>A (p.Gly195Arg)
c.76G>A (p.Gly26Arg)
n.475+3G>A
c.529+3G>A (n.529+3G>A)
c.454+3G>A (n.454+3G>A)
c.586G>A (p.Gly196Arg)
c.445G>A (p.Gly149Arg)
c.*48+3G>A (n.*48+3G>A)
c.522+3G>A
c.100+3G>A (n.100+3G>A)
c.386G>A (n.386G>A)
c.579G>A
c.388+3G>A (n.388+3G>A)
c.106+3G>A (n.106+3G>A)
n.662+3G>A
n.875+3G>A
c.439+3G>A (n.439+3G>A)
n.659+3G>A
n.518+3G>A
c.580+3G>A (n.580+3G>A)
c.526+3G>A (n.526+3G>A)
c.4810-110349G>A (n.4810-110349G>A)
n.643+3G>A
n.1018+3G>A
n.616+3G>A
 dbSNP
17g.46938707G>CCA400019141GOSR2,LRRC37A2c.583+3G>C (n.583+3G>C)
c.391G>C (p.Gly131Arg)
c.580G>C (p.Gly194Arg)
c.*51G>C (n.*51G>C)
c.532G>C (p.Gly178Arg)
c.229G>C (p.Gly77Arg)
c.336+3G>C
c.442G>C (p.Gly148Arg)
c.442+3G>C (n.442+3G>C)
c.583G>C (p.Gly195Arg)
c.76G>C (p.Gly26Arg)
n.475+3G>C
c.529+3G>C (n.529+3G>C)
c.454+3G>C (n.454+3G>C)
c.586G>C (p.Gly196Arg)
c.445G>C (p.Gly149Arg)
c.*48+3G>C (n.*48+3G>C)
c.522+3G>C
c.100+3G>C (n.100+3G>C)
c.386G>C (n.386G>C)
c.579G>C
c.388+3G>C (n.388+3G>C)
c.106+3G>C (n.106+3G>C)
n.662+3G>C
n.875+3G>C
c.439+3G>C (n.439+3G>C)
n.659+3G>C
n.518+3G>C
c.580+3G>C (n.580+3G>C)
c.526+3G>C (n.526+3G>C)
c.4810-110349G>C (n.4810-110349G>C)
n.643+3G>C
n.1018+3G>C
n.616+3G>C
17g.46938707G=CA2262452883GOSR2,LRRC37A2c.583+3G= (n.583+3G=)
c.391G= (p.Gly131=)
c.580G= (p.Gly194=)
c.*51G= (n.*51G=)
c.532G= (p.Gly178=)
c.229G= (p.Gly77=)
c.336+3G=
c.442G= (p.Gly148=)
c.442+3G= (n.442+3G=)
c.583G= (p.Gly195=)
c.76G= (p.Gly26=)
n.475+3G=
c.529+3G= (n.529+3G=)
c.454+3G= (n.454+3G=)
c.586G= (p.Gly196=)
c.445G= (p.Gly149=)
c.*48+3G= (n.*48+3G=)
c.522+3G=
c.100+3G= (n.100+3G=)
c.386G= (n.386G=)
c.579G=
c.388+3G= (n.388+3G=)
c.106+3G= (n.106+3G=)
n.662+3G=
n.875+3G=
c.439+3G= (n.439+3G=)
n.659+3G=
n.518+3G=
c.580+3G= (n.580+3G=)
c.526+3G= (n.526+3G=)
c.4810-110349G= (n.4810-110349G=)
n.643+3G=
n.1018+3G=
n.616+3G=
17g.46938707G>TCA400019140GOSR2,LRRC37A2c.583+3G>T (n.583+3G>T)
c.391G>T (p.Gly131Trp)
c.580G>T (p.Gly194Trp)
c.*51G>T (n.*51G>T)
c.532G>T (p.Gly178Trp)
c.229G>T (p.Gly77Trp)
c.336+3G>T
c.442G>T (p.Gly148Trp)
c.442+3G>T (n.442+3G>T)
c.583G>T (p.Gly195Trp)
c.76G>T (p.Gly26Trp)
n.475+3G>T
c.529+3G>T (n.529+3G>T)
c.454+3G>T (n.454+3G>T)
c.586G>T (p.Gly196Trp)
c.445G>T (p.Gly149Trp)
c.*48+3G>T (n.*48+3G>T)
c.522+3G>T
c.100+3G>T (n.100+3G>T)
c.386G>T (n.386G>T)
c.579G>T
c.388+3G>T (n.388+3G>T)
c.106+3G>T (n.106+3G>T)
n.662+3G>T
n.875+3G>T
c.439+3G>T (n.439+3G>T)
n.659+3G>T
n.518+3G>T
c.580+3G>T (n.580+3G>T)
c.526+3G>T (n.526+3G>T)
c.4810-110349G>T (n.4810-110349G>T)
n.643+3G>T
n.1018+3G>T
n.616+3G>T
17g.46938708G>ACA400019143GOSR2,LRRC37A2c.583+4G>A (n.583+4G>A)
c.392G>A (p.Gly131Glu)
c.581G>A (p.Gly194Glu)
c.*52G>A (n.*52G>A)
c.533G>A (p.Gly178Glu)
c.230G>A (p.Gly77Glu)
c.336+4G>A
c.443G>A (p.Gly148Glu)
c.442+4G>A (n.442+4G>A)
c.584G>A (p.Gly195Glu)
c.77G>A (p.Gly26Glu)
n.475+4G>A
c.529+4G>A (n.529+4G>A)
c.454+4G>A (n.454+4G>A)
c.587G>A (p.Gly196Glu)
c.446G>A (p.Gly149Glu)
c.*48+4G>A (n.*48+4G>A)
c.522+4G>A
c.100+4G>A (n.100+4G>A)
c.387G>A (n.387G>A)
c.580G>A
c.388+4G>A (n.388+4G>A)
c.106+4G>A (n.106+4G>A)
n.662+4G>A
n.875+4G>A
c.439+4G>A (n.439+4G>A)
n.659+4G>A
n.518+4G>A
c.580+4G>A (n.580+4G>A)
c.526+4G>A (n.526+4G>A)
c.4810-110348G>A (n.4810-110348G>A)
n.643+4G>A
n.1018+4G>A
n.616+4G>A
17g.46938708G>CCA400019145GOSR2,LRRC37A2c.583+4G>C (n.583+4G>C)
c.392G>C (p.Gly131Ala)
c.581G>C (p.Gly194Ala)
c.*52G>C (n.*52G>C)
c.533G>C (p.Gly178Ala)
c.230G>C (p.Gly77Ala)
c.336+4G>C
c.443G>C (p.Gly148Ala)
c.442+4G>C (n.442+4G>C)
c.584G>C (p.Gly195Ala)
c.77G>C (p.Gly26Ala)
n.475+4G>C
c.529+4G>C (n.529+4G>C)
c.454+4G>C (n.454+4G>C)
c.587G>C (p.Gly196Ala)
c.446G>C (p.Gly149Ala)
c.*48+4G>C (n.*48+4G>C)
c.522+4G>C
c.100+4G>C (n.100+4G>C)
c.387G>C (n.387G>C)
c.580G>C
c.388+4G>C (n.388+4G>C)
c.106+4G>C (n.106+4G>C)
n.662+4G>C
n.875+4G>C
c.439+4G>C (n.439+4G>C)
n.659+4G>C
n.518+4G>C
c.580+4G>C (n.580+4G>C)
c.526+4G>C (n.526+4G>C)
c.4810-110348G>C (n.4810-110348G>C)
n.643+4G>C
n.1018+4G>C
n.616+4G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46938708G>TCA400019144GOSR2,LRRC37A2c.583+4G>T (n.583+4G>T)
c.392G>T (p.Gly131Val)
c.581G>T (p.Gly194Val)
c.*52G>T (n.*52G>T)
c.533G>T (p.Gly178Val)
c.230G>T (p.Gly77Val)
c.336+4G>T
c.443G>T (p.Gly148Val)
c.442+4G>T (n.442+4G>T)
c.584G>T (p.Gly195Val)
c.77G>T (p.Gly26Val)
n.475+4G>T
c.529+4G>T (n.529+4G>T)
c.454+4G>T (n.454+4G>T)
c.587G>T (p.Gly196Val)
c.446G>T (p.Gly149Val)
c.*48+4G>T (n.*48+4G>T)
c.522+4G>T
c.100+4G>T (n.100+4G>T)
c.387G>T (n.387G>T)
c.580G>T
c.388+4G>T (n.388+4G>T)
c.106+4G>T (n.106+4G>T)
n.662+4G>T
n.875+4G>T
c.439+4G>T (n.439+4G>T)
n.659+4G>T
n.518+4G>T
c.580+4G>T (n.580+4G>T)
c.526+4G>T (n.526+4G>T)
c.4810-110348G>T (n.4810-110348G>T)
n.643+4G>T
n.1018+4G>T
n.616+4G>T
 gnomAD v4
17g.46938710A>CCA400019146GOSR2,LRRC37A2c.583+6A>C (n.583+6A>C)
c.394A>C (p.Met132Leu)
c.583A>C (p.Met195Leu)
c.*54A>C (n.*54A>C)
c.535A>C (p.Met179Leu)
c.232A>C (p.Met78Leu)
c.336+6A>C
c.445A>C (p.Met149Leu)
c.442+6A>C (n.442+6A>C)
c.586A>C (p.Met196Leu)
c.79A>C (p.Met27Leu)
n.475+6A>C
c.529+6A>C (n.529+6A>C)
c.454+6A>C (n.454+6A>C)
c.589A>C (p.Met197Leu)
c.448A>C (p.Met150Leu)
c.*48+6A>C (n.*48+6A>C)
c.522+6A>C
c.100+6A>C (n.100+6A>C)
c.389A>C (n.389A>C)
c.582A>C
c.388+6A>C (n.388+6A>C)
c.106+6A>C (n.106+6A>C)
n.662+6A>C
n.875+6A>C
c.439+6A>C (n.439+6A>C)
n.659+6A>C
n.518+6A>C
c.580+6A>C (n.580+6A>C)
c.526+6A>C (n.526+6A>C)
c.4810-110346A>C (n.4810-110346A>C)
n.643+6A>C
n.1018+6A>C
n.616+6A>C
17g.46938710A>GCA400019147GOSR2,LRRC37A2c.583+6A>G (n.583+6A>G)
c.394A>G (p.Met132Val)
c.583A>G (p.Met195Val)
c.*54A>G (n.*54A>G)
c.535A>G (p.Met179Val)
c.232A>G (p.Met78Val)
c.336+6A>G
c.445A>G (p.Met149Val)
c.442+6A>G (n.442+6A>G)
c.586A>G (p.Met196Val)
c.79A>G (p.Met27Val)
n.475+6A>G
c.529+6A>G (n.529+6A>G)
c.454+6A>G (n.454+6A>G)
c.589A>G (p.Met197Val)
c.448A>G (p.Met150Val)
c.*48+6A>G (n.*48+6A>G)
c.522+6A>G
c.100+6A>G (n.100+6A>G)
c.389A>G (n.389A>G)
c.582A>G
c.388+6A>G (n.388+6A>G)
c.106+6A>G (n.106+6A>G)
n.662+6A>G
n.875+6A>G
c.439+6A>G (n.439+6A>G)
n.659+6A>G
n.518+6A>G
c.580+6A>G (n.580+6A>G)
c.526+6A>G (n.526+6A>G)
c.4810-110346A>G (n.4810-110346A>G)
n.643+6A>G
n.1018+6A>G
n.616+6A>G
17g.46938710A>TCA400019148GOSR2,LRRC37A2c.583+6A>T (n.583+6A>T)
c.394A>T (p.Met132Leu)
c.583A>T (p.Met195Leu)
c.*54A>T (n.*54A>T)
c.535A>T (p.Met179Leu)
c.232A>T (p.Met78Leu)
c.336+6A>T
c.445A>T (p.Met149Leu)
c.442+6A>T (n.442+6A>T)
c.586A>T (p.Met196Leu)
c.79A>T (p.Met27Leu)
n.475+6A>T
c.529+6A>T (n.529+6A>T)
c.454+6A>T (n.454+6A>T)
c.589A>T (p.Met197Leu)
c.448A>T (p.Met150Leu)
c.*48+6A>T (n.*48+6A>T)
c.522+6A>T
c.100+6A>T (n.100+6A>T)
c.389A>T (n.389A>T)
c.582A>T
c.388+6A>T (n.388+6A>T)
c.106+6A>T (n.106+6A>T)
n.662+6A>T
n.875+6A>T
c.439+6A>T (n.439+6A>T)
n.659+6A>T
n.518+6A>T
c.580+6A>T (n.580+6A>T)
c.526+6A>T (n.526+6A>T)
c.4810-110346A>T (n.4810-110346A>T)
n.643+6A>T
n.1018+6A>T
n.616+6A>T
 gnomAD v4
17g.46938711T>ACA400019149GOSR2,LRRC37A2c.583+7T>A (n.583+7T>A)
c.395T>A (p.Met132Lys)
c.584T>A (p.Met195Lys)
c.*55T>A (n.*55T>A)
c.536T>A (p.Met179Lys)
c.233T>A (p.Met78Lys)
c.336+7T>A
c.446T>A (p.Met149Lys)
c.442+7T>A (n.442+7T>A)
c.587T>A (p.Met196Lys)
c.80T>A (p.Met27Lys)
n.475+7T>A
c.529+7T>A (n.529+7T>A)
c.454+7T>A (n.454+7T>A)
c.590T>A (p.Met197Lys)
c.449T>A (p.Met150Lys)
c.*48+7T>A (n.*48+7T>A)
c.522+7T>A
c.100+7T>A (n.100+7T>A)
c.390T>A (n.390T>A)
c.583T>A
c.388+7T>A (n.388+7T>A)
c.106+7T>A (n.106+7T>A)
n.662+7T>A
n.875+7T>A
c.439+7T>A (n.439+7T>A)
n.659+7T>A
n.518+7T>A
c.580+7T>A (n.580+7T>A)
c.526+7T>A (n.526+7T>A)
c.4810-110345T>A (n.4810-110345T>A)
n.643+7T>A
n.1018+7T>A
n.616+7T>A
17g.46938711T>CCA400019150GOSR2,LRRC37A2c.583+7T>C (n.583+7T>C)
c.395T>C (p.Met132Thr)
c.584T>C (p.Met195Thr)
c.*55T>C (n.*55T>C)
c.536T>C (p.Met179Thr)
c.233T>C (p.Met78Thr)
c.336+7T>C
c.446T>C (p.Met149Thr)
c.442+7T>C (n.442+7T>C)
c.587T>C (p.Met196Thr)
c.80T>C (p.Met27Thr)
n.475+7T>C
c.529+7T>C (n.529+7T>C)
c.454+7T>C (n.454+7T>C)
c.590T>C (p.Met197Thr)
c.449T>C (p.Met150Thr)
c.*48+7T>C (n.*48+7T>C)
c.522+7T>C
c.100+7T>C (n.100+7T>C)
c.390T>C (n.390T>C)
c.583T>C
c.388+7T>C (n.388+7T>C)
c.106+7T>C (n.106+7T>C)
n.662+7T>C
n.875+7T>C
c.439+7T>C (n.439+7T>C)
n.659+7T>C
n.518+7T>C
c.580+7T>C (n.580+7T>C)
c.526+7T>C (n.526+7T>C)
c.4810-110345T>C (n.4810-110345T>C)
n.643+7T>C
n.1018+7T>C
n.616+7T>C
17g.46938711T>GCA400019151GOSR2,LRRC37A2c.583+7T>G (n.583+7T>G)
c.395T>G (p.Met132Arg)
c.584T>G (p.Met195Arg)
c.*55T>G (n.*55T>G)
c.536T>G (p.Met179Arg)
c.233T>G (p.Met78Arg)
c.336+7T>G
c.446T>G (p.Met149Arg)
c.442+7T>G (n.442+7T>G)
c.587T>G (p.Met196Arg)
c.80T>G (p.Met27Arg)
n.475+7T>G
c.529+7T>G (n.529+7T>G)
c.454+7T>G (n.454+7T>G)
c.590T>G (p.Met197Arg)
c.449T>G (p.Met150Arg)
c.*48+7T>G (n.*48+7T>G)
c.522+7T>G
c.100+7T>G (n.100+7T>G)
c.390T>G (n.390T>G)
c.583T>G
c.388+7T>G (n.388+7T>G)
c.106+7T>G (n.106+7T>G)
n.662+7T>G
n.875+7T>G
c.439+7T>G (n.439+7T>G)
n.659+7T>G
n.518+7T>G
c.580+7T>G (n.580+7T>G)
c.526+7T>G (n.526+7T>G)
c.4810-110345T>G (n.4810-110345T>G)
n.643+7T>G
n.1018+7T>G
n.616+7T>G
17g.46938712G>ACA400019152GOSR2,LRRC37A2c.583+8G>A (n.583+8G>A)
c.396G>A (p.Met132Ile)
c.585G>A (p.Met195Ile)
c.*56G>A (n.*56G>A)
c.537G>A (p.Met179Ile)
c.234G>A (p.Met78Ile)
c.336+8G>A
c.447G>A (p.Met149Ile)
c.442+8G>A (n.442+8G>A)
c.588G>A (p.Met196Ile)
c.81G>A (p.Met27Ile)
n.475+8G>A
c.529+8G>A (n.529+8G>A)
c.454+8G>A (n.454+8G>A)
c.591G>A (p.Met197Ile)
c.450G>A (p.Met150Ile)
c.*48+8G>A (n.*48+8G>A)
c.522+8G>A
c.100+8G>A (n.100+8G>A)
c.391G>A (n.391G>A)
c.584G>A
c.388+8G>A (n.388+8G>A)
c.106+8G>A (n.106+8G>A)
n.662+8G>A
n.875+8G>A
c.439+8G>A (n.439+8G>A)
n.659+8G>A
n.518+8G>A
c.580+8G>A (n.580+8G>A)
c.526+8G>A (n.526+8G>A)
c.4810-110344G>A (n.4810-110344G>A)
n.643+8G>A
n.1018+8G>A
n.616+8G>A
17g.46938712G>CCA400019153GOSR2,LRRC37A2c.583+8G>C (n.583+8G>C)
c.396G>C (p.Met132Ile)
c.585G>C (p.Met195Ile)
c.*56G>C (n.*56G>C)
c.537G>C (p.Met179Ile)
c.234G>C (p.Met78Ile)
c.336+8G>C
c.447G>C (p.Met149Ile)
c.442+8G>C (n.442+8G>C)
c.588G>C (p.Met196Ile)
c.81G>C (p.Met27Ile)
n.475+8G>C
c.529+8G>C (n.529+8G>C)
c.454+8G>C (n.454+8G>C)
c.591G>C (p.Met197Ile)
c.450G>C (p.Met150Ile)
c.*48+8G>C (n.*48+8G>C)
c.522+8G>C
c.100+8G>C (n.100+8G>C)
c.391G>C (n.391G>C)
c.584G>C
c.388+8G>C (n.388+8G>C)
c.106+8G>C (n.106+8G>C)
n.662+8G>C
n.875+8G>C
c.439+8G>C (n.439+8G>C)
n.659+8G>C
n.518+8G>C
c.580+8G>C (n.580+8G>C)
c.526+8G>C (n.526+8G>C)
c.4810-110344G>C (n.4810-110344G>C)
n.643+8G>C
n.1018+8G>C
n.616+8G>C
17g.46938712G>TCA400019154GOSR2,LRRC37A2c.583+8G>T (n.583+8G>T)
c.396G>T (p.Met132Ile)
c.585G>T (p.Met195Ile)
c.*56G>T (n.*56G>T)
c.537G>T (p.Met179Ile)
c.234G>T (p.Met78Ile)
c.336+8G>T
c.447G>T (p.Met149Ile)
c.442+8G>T (n.442+8G>T)
c.588G>T (p.Met196Ile)
c.81G>T (p.Met27Ile)
n.475+8G>T
c.529+8G>T (n.529+8G>T)
c.454+8G>T (n.454+8G>T)
c.591G>T (p.Met197Ile)
c.450G>T (p.Met150Ile)
c.*48+8G>T (n.*48+8G>T)
c.522+8G>T
c.100+8G>T (n.100+8G>T)
c.391G>T (n.391G>T)
c.584G>T
c.388+8G>T (n.388+8G>T)
c.106+8G>T (n.106+8G>T)
n.662+8G>T
n.875+8G>T
c.439+8G>T (n.439+8G>T)
n.659+8G>T
n.518+8G>T
c.580+8G>T (n.580+8G>T)
c.526+8G>T (n.526+8G>T)
c.4810-110344G>T (n.4810-110344G>T)
n.643+8G>T
n.1018+8G>T
n.616+8G>T

Number of alleles fetched