Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.66633388C>ACA367695663KCTD7c.258C>A (p.Tyr86Ter)
c.236C>A
c.144+4180C>A (n.144+4180C>A)
c.139+4180C>A
c.118+4180C>A
c.128C>A
7g.66633388C=CA1714174494KCTD7c.258C= (p.Tyr86=)
c.236C=
c.144+4180C= (n.144+4180C=)
c.139+4180C=
c.118+4180C=
c.128C=
7g.66633388C>GCA367695664KCTD7c.258C>G (p.Tyr86Ter)
c.236C>G
c.144+4180C>G (n.144+4180C>G)
c.139+4180C>G
c.118+4180C>G
c.128C>G
7g.66633388C>TCA4278213KCTD7c.258C>T (p.Tyr86=)
c.236C>T
c.144+4180C>T (n.144+4180C>T)
c.139+4180C>T
c.118+4180C>T
c.128C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633389A=CA1714174495KCTD7c.259A= (p.Ile87=)
c.237A=
c.144+4181A= (n.144+4181A=)
c.139+4181A=
c.118+4181A=
c.129A=
7g.66633389A>CCA367695665KCTD7c.259A>C (p.Ile87Leu)
c.237A>C
c.144+4181A>C (n.144+4181A>C)
c.139+4181A>C
c.118+4181A>C
c.129A>C
7g.66633389A>GCA367695666KCTD7c.259A>G (p.Ile87Val)
c.237A>G
c.144+4181A>G (n.144+4181A>G)
c.139+4181A>G
c.118+4181A>G
c.129A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.66633389A>TCA367695667KCTD7c.259A>T (p.Ile87Phe)
c.237A>T
c.144+4181A>T (n.144+4181A>T)
c.139+4181A>T
c.118+4181A>T
c.129A>T
7g.66633390T>ACA367695668KCTD7c.260T>A (p.Ile87Asn)
c.238T>A
c.144+4182T>A (n.144+4182T>A)
c.139+4182T>A
c.118+4182T>A
c.130T>A
7g.66633390T>CCA367695669KCTD7c.260T>C (p.Ile87Thr)
c.238T>C
c.144+4182T>C (n.144+4182T>C)
c.139+4182T>C
c.118+4182T>C
c.130T>C
7g.66633390T>GCA367695670KCTD7c.260T>G (p.Ile87Ser)
c.238T>G
c.144+4182T>G (n.144+4182T>G)
c.139+4182T>G
c.118+4182T>G
c.130T>G
7g.66633391C>ACA455937277KCTD7c.261C>A (p.Ile87=)
c.239C>A
c.144+4183C>A (n.144+4183C>A)
c.139+4183C>A
c.118+4183C>A
c.131C>A
7g.66633391C>GCA367695671KCTD7c.261C>G (p.Ile87Met)
c.239C>G
c.144+4183C>G (n.144+4183C>G)
c.139+4183C>G
c.118+4183C>G
c.131C>G
7g.66633391C>TCA455937279KCTD7c.261C>T (p.Ile87=)
c.239C>T
c.144+4183C>T (n.144+4183C>T)
c.139+4183C>T
c.118+4183C>T
c.131C>T
7g.66633392C>ACA367695672KCTD7c.262C>A (p.Pro88Thr)
c.240C>A
c.144+4184C>A (n.144+4184C>A)
c.139+4184C>A
c.118+4184C>A
c.132C>A
 dbSNP gnomAD v3 gnomAD v4
7g.66633392C=CA1714174496KCTD7c.262C= (p.Pro88=)
c.240C=
c.144+4184C= (n.144+4184C=)
c.139+4184C=
c.118+4184C=
c.132C=
7g.66633392C>GCA367695674KCTD7c.262C>G (p.Pro88Ala)
c.240C>G
c.144+4184C>G (n.144+4184C>G)
c.139+4184C>G
c.118+4184C>G
c.132C>G
7g.66633392C>TCA367695673KCTD7c.262C>T (p.Pro88Ser)
c.240C>T
c.144+4184C>T (n.144+4184C>T)
c.139+4184C>T
c.118+4184C>T
c.132C>T
 gnomAD v4
7g.66633393C>ACA367695675KCTD7c.263C>A (p.Pro88His)
c.241C>A
c.144+4185C>A (n.144+4185C>A)
c.139+4185C>A
c.118+4185C>A
c.133C>A
7g.66633393C>GCA367695676KCTD7c.263C>G (p.Pro88Arg)
c.241C>G
c.144+4185C>G (n.144+4185C>G)
c.139+4185C>G
c.118+4185C>G
c.133C>G
7g.66633393C>TCA367695677KCTD7c.263C>T (p.Pro88Leu)
c.241C>T
c.144+4185C>T (n.144+4185C>T)
c.139+4185C>T
c.118+4185C>T
c.133C>T
7g.66633394C>ACA455937291KCTD7c.264C>A (p.Pro88=)
c.242C>A
c.144+4186C>A (n.144+4186C>A)
c.139+4186C>A
c.118+4186C>A
c.134C>A
7g.66633394C=CA1714174497KCTD7c.264C= (p.Pro88=)
c.242C=
c.144+4186C= (n.144+4186C=)
c.139+4186C=
c.118+4186C=
c.134C=
7g.66633394C>GCA455937294KCTD7c.264C>G (p.Pro88=)
c.242C>G
c.144+4186C>G (n.144+4186C>G)
c.139+4186C>G
c.118+4186C>G
c.134C>G
7g.66633394C>TCA160219744KCTD7c.264C>T (p.Pro88=)
c.242C>T
c.144+4186C>T (n.144+4186C>T)
c.139+4186C>T
c.118+4186C>T
c.134C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.66633395A>CCA367695678KCTD7c.265A>C (p.Thr89Pro)
c.243A>C
c.144+4187A>C (n.144+4187A>C)
c.139+4187A>C
c.118+4187A>C
c.135A>C
7g.66633395A>GCA367695679KCTD7c.265A>G (p.Thr89Ala)
c.243A>G
c.144+4187A>G (n.144+4187A>G)
c.139+4187A>G
c.118+4187A>G
c.135A>G
7g.66633395A>TCA367695680KCTD7c.265A>T (p.Thr89Ser)
c.243A>T
c.144+4187A>T (n.144+4187A>T)
c.139+4187A>T
c.118+4187A>T
c.135A>T
7g.66633396C>ACA367695681KCTD7c.266C>A (p.Thr89Lys)
c.244C>A
c.144+4188C>A (n.144+4188C>A)
c.139+4188C>A
c.118+4188C>A
c.136C>A
7g.66633396C=CA1714174498KCTD7c.266C= (p.Thr89=)
c.244C=
c.144+4188C= (n.144+4188C=)
c.139+4188C=
c.118+4188C=
c.136C=
7g.66633396C>GCA367695682KCTD7c.266C>G (p.Thr89Arg)
c.244C>G
c.144+4188C>G (n.144+4188C>G)
c.139+4188C>G
c.118+4188C>G
c.136C>G
7g.66633396C>TCA4278214KCTD7c.266C>T (p.Thr89Met)
c.244C>T
c.144+4188C>T (n.144+4188C>T)
c.139+4188C>T
c.118+4188C>T
c.136C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633397G>ACA288947KCTD7c.267G>A (p.Thr89=)
c.245G>A
c.144+4189G>A (n.144+4189G>A)
c.139+4189G>A
c.118+4189G>A
c.137G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633397G>CCA455937303KCTD7c.267G>C (p.Thr89=)
c.245G>C
c.144+4189G>C (n.144+4189G>C)
c.139+4189G>C
c.118+4189G>C
c.137G>C
 dbSNP
7g.66633397G=CA1714174499KCTD7c.267G= (p.Thr89=)
c.245G=
c.144+4189G= (n.144+4189G=)
c.139+4189G=
c.118+4189G=
c.137G=
7g.66633397G>TCA455937304KCTD7c.267G>T (p.Thr89=)
c.245G>T
c.144+4189G>T (n.144+4189G>T)
c.139+4189G>T
c.118+4189G>T
c.137G>T
7g.66633398G>ACA367695685KCTD7c.268G>A (p.Asp90Asn)
c.246G>A
c.144+4190G>A (n.144+4190G>A)
c.139+4190G>A
c.118+4190G>A
c.138G>A
 COSMIC
7g.66633398G>CCA367695684KCTD7c.268G>C (p.Asp90His)
c.246G>C
c.144+4190G>C (n.144+4190G>C)
c.139+4190G>C
c.118+4190G>C
c.138G>C
7g.66633398G>TCA367695683KCTD7c.268G>T (p.Asp90Tyr)
c.246G>T
c.144+4190G>T (n.144+4190G>T)
c.139+4190G>T
c.118+4190G>T
c.138G>T
7g.66633399A>CCA367695688KCTD7c.269A>C (p.Asp90Ala)
c.247A>C
c.144+4191A>C (n.144+4191A>C)
c.139+4191A>C
c.118+4191A>C
c.139A>C
7g.66633399A>GCA367695686KCTD7c.269A>G (p.Asp90Gly)
c.247A>G
c.144+4191A>G (n.144+4191A>G)
c.139+4191A>G
c.118+4191A>G
c.139A>G
7g.66633399A>TCA367695687KCTD7c.269A>T (p.Asp90Val)
c.247A>T
c.144+4191A>T (n.144+4191A>T)
c.139+4191A>T
c.118+4191A>T
c.139A>T
7g.66633400C>ACA367695689KCTD7c.270C>A (p.Asp90Glu)
c.248C>A
c.144+4192C>A (n.144+4192C>A)
c.139+4192C>A
c.118+4192C>A
c.140C>A
7g.66633400C=CA1714174500KCTD7c.270C= (p.Asp90=)
c.248C=
c.144+4192C= (n.144+4192C=)
c.139+4192C=
c.118+4192C=
c.140C=
7g.66633400C>GCA367695690KCTD7c.270C>G (p.Asp90Glu)
c.248C>G
c.144+4192C>G (n.144+4192C>G)
c.139+4192C>G
c.118+4192C>G
c.140C>G
7g.66633400C>TCA4278215KCTD7c.270C>T (p.Asp90=)
c.248C>T
c.144+4192C>T (n.144+4192C>T)
c.139+4192C>T
c.118+4192C>T
c.140C>T
 ClinVar dbSNP ExAC
7g.66633401T>ACA367695691KCTD7c.271T>A (p.Ser91Thr)
c.249T>A
c.144+4193T>A (n.144+4193T>A)
c.139+4193T>A
c.118+4193T>A
c.141T>A
7g.66633401T>CCA367695692KCTD7c.271T>C (p.Ser91Pro)
c.249T>C
c.144+4193T>C (n.144+4193T>C)
c.139+4193T>C
c.118+4193T>C
c.141T>C
7g.66633401T>GCA367695693KCTD7c.271T>G (p.Ser91Ala)
c.249T>G
c.144+4193T>G (n.144+4193T>G)
c.139+4193T>G
c.118+4193T>G
c.141T>G
7g.66633402C>ACA367695694KCTD7c.272C>A (p.Ser91Tyr)
c.250C>A
c.144+4194C>A (n.144+4194C>A)
c.139+4194C>A
c.118+4194C>A
c.142C>A
7g.66633402C>GCA367695695KCTD7c.272C>G (p.Ser91Cys)
c.250C>G
c.144+4194C>G (n.144+4194C>G)
c.139+4194C>G
c.118+4194C>G
c.142C>G
7g.66633402C>TCA367695696KCTD7c.272C>T (p.Ser91Phe)
c.250C>T
c.144+4194C>T (n.144+4194C>T)
c.139+4194C>T
c.118+4194C>T
c.142C>T
7g.66633403C>ACA455937326KCTD7c.273C>A (p.Ser91=)
c.251C>A
c.144+4195C>A (n.144+4195C>A)
c.139+4195C>A
c.118+4195C>A
c.143C>A
7g.66633403C=CA1714174501KCTD7c.273C= (p.Ser91=)
c.251C=
c.144+4195C= (n.144+4195C=)
c.139+4195C=
c.118+4195C=
c.143C=
7g.66633403C>GCA455937329KCTD7c.273C>G (p.Ser91=)
c.251C>G
c.144+4195C>G (n.144+4195C>G)
c.139+4195C>G
c.118+4195C>G
c.143C>G
7g.66633403C>TCA315679KCTD7c.273C>T (p.Ser91=)
c.251C>T
c.144+4195C>T (n.144+4195C>T)
c.139+4195C>T
c.118+4195C>T
c.143C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633404G>ACA4278216KCTD7c.274G>A (p.Glu92Lys)
c.252G>A
c.144+4196G>A (n.144+4196G>A)
c.139+4196G>A
c.118+4196G>A
c.144G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.66633404G>CCA367695698KCTD7c.274G>C (p.Glu92Gln)
c.252G>C
c.144+4196G>C (n.144+4196G>C)
c.139+4196G>C
c.118+4196G>C
c.144G>C
7g.66633404G=CA1714174502KCTD7c.274G= (p.Glu92=)
c.252G=
c.144+4196G= (n.144+4196G=)
c.139+4196G=
c.118+4196G=
c.144G=
7g.66633404G>TCA367695697KCTD7c.274G>T (p.Glu92Ter)
c.252G>T
c.144+4196G>T (n.144+4196G>T)
c.139+4196G>T
c.118+4196G>T
c.144G>T
7g.66633405A=CA1714174503KCTD7c.275A= (p.Glu92=)
c.253A=
c.144+4197A= (n.144+4197A=)
c.139+4197A=
c.118+4197A=
c.145A=
7g.66633405A>CCA367695699KCTD7c.275A>C (p.Glu92Ala)
c.253A>C
c.144+4197A>C (n.144+4197A>C)
c.139+4197A>C
c.118+4197A>C
c.145A>C
7g.66633405A>GCA160219745KCTD7c.275A>G (p.Glu92Gly)
c.253A>G
c.144+4197A>G (n.144+4197A>G)
c.139+4197A>G
c.118+4197A>G
c.145A>G
 dbSNP gnomAD v4
7g.66633405A>TCA367695700KCTD7c.275A>T (p.Glu92Val)
c.253A>T
c.144+4197A>T (n.144+4197A>T)
c.139+4197A>T
c.118+4197A>T
c.145A>T
7g.66633406G>ACA455937341KCTD7c.276G>A (p.Glu92=)
c.254G>A
c.144+4198G>A (n.144+4198G>A)
c.139+4198G>A
c.118+4198G>A
c.146G>A
7g.66633406G>CCA367695701KCTD7c.276G>C (p.Glu92Asp)
c.254G>C
c.144+4198G>C (n.144+4198G>C)
c.139+4198G>C
c.118+4198G>C
c.146G>C
7g.66633406G>TCA367695702KCTD7c.276G>T (p.Glu92Asp)
c.254G>T
c.144+4198G>T (n.144+4198G>T)
c.139+4198G>T
c.118+4198G>T
c.146G>T
7g.66633407G>ACA367695703KCTD7c.277G>A (p.Gly93Ser)
c.255G>A
c.144+4199G>A (n.144+4199G>A)
c.139+4199G>A
c.118+4199G>A
c.147G>A
7g.66633407G>CCA367695704KCTD7c.277G>C (p.Gly93Arg)
c.255G>C
c.144+4199G>C (n.144+4199G>C)
c.139+4199G>C
c.118+4199G>C
c.147G>C
7g.66633407G>TCA367695705KCTD7c.277G>T (p.Gly93Cys)
c.255G>T
c.144+4199G>T (n.144+4199G>T)
c.139+4199G>T
c.118+4199G>T
c.147G>T
7g.66633408G>ACA367695706KCTD7c.278G>A (p.Gly93Asp)
c.256G>A
c.144+4200G>A (n.144+4200G>A)
c.139+4200G>A
c.118+4200G>A
c.148G>A
 ClinVar dbSNP
7g.66633408G>CCA160219746KCTD7c.278G>C (p.Gly93Ala)
c.256G>C
c.144+4200G>C (n.144+4200G>C)
c.139+4200G>C
c.118+4200G>C
c.148G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.66633408G=CA1714174504KCTD7c.278G= (p.Gly93=)
c.256G=
c.144+4200G= (n.144+4200G=)
c.139+4200G=
c.118+4200G=
c.148G=
7g.66633408G>TCA367695707KCTD7c.278G>T (p.Gly93Val)
c.256G>T
c.144+4200G>T (n.144+4200G>T)
c.139+4200G>T
c.118+4200G>T
c.148G>T
7g.66633409C>ACA455937357KCTD7c.279C>A (p.Gly93=)
c.257C>A
c.144+4201C>A (n.144+4201C>A)
c.139+4201C>A
c.118+4201C>A
c.149C>A
7g.66633409C=CA1714174505KCTD7c.279C= (p.Gly93=)
c.257C=
c.144+4201C= (n.144+4201C=)
c.139+4201C=
c.118+4201C=
c.149C=
7g.66633409C>GCA455937358KCTD7c.279C>G (p.Gly93=)
c.257C>G
c.144+4201C>G (n.144+4201C>G)
c.139+4201C>G
c.118+4201C>G
c.149C>G
 gnomAD v4
7g.66633409C>TCA455937361KCTD7c.279C>T (p.Gly93=)
c.257C>T
c.144+4201C>T (n.144+4201C>T)
c.139+4201C>T
c.118+4201C>T
c.149C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.66633410C>ACA455937364KCTD7c.280C>A (p.Arg94=)
c.258C>A
c.144+4202C>A (n.144+4202C>A)
c.139+4202C>A
c.118+4202C>A
c.150C>A
7g.66633410C=CA1714174506KCTD7c.280C= (p.Arg94=)
c.258C=
c.144+4202C= (n.144+4202C=)
c.139+4202C=
c.118+4202C=
c.150C=
7g.66633410C>GCA367695708KCTD7c.280C>G (p.Arg94Gly)
c.258C>G
c.144+4202C>G (n.144+4202C>G)
c.139+4202C>G
c.118+4202C>G
c.150C>G
7g.66633410C>TCA130028KCTD7c.280C>T (p.Arg94Trp)
c.258C>T
c.144+4202C>T (n.144+4202C>T)
c.139+4202C>T
c.118+4202C>T
c.150C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633411G>ACA160219747KCTD7c.281G>A (p.Arg94Gln)
c.259G>A
c.144+4203G>A (n.144+4203G>A)
c.139+4203G>A
c.118+4203G>A
c.151G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.66633411G>CCA367695710KCTD7c.281G>C (p.Arg94Pro)
c.259G>C
c.144+4203G>C (n.144+4203G>C)
c.139+4203G>C
c.118+4203G>C
c.151G>C
7g.66633411G=CA1714174507KCTD7c.281G= (p.Arg94=)
c.259G=
c.144+4203G= (n.144+4203G=)
c.139+4203G=
c.118+4203G=
c.151G=
7g.66633411G>TCA367695709KCTD7c.281G>T (p.Arg94Leu)
c.259G>T
c.144+4203G>T (n.144+4203G>T)
c.139+4203G>T
c.118+4203G>T
c.151G>T
7g.66633411_66633413dupCA2578900510KCTD7c.281_283dup (p.Arg94_Tyr95insTrp)
c.259_261dup
c.144+4203_144+4205dup (n.144+4203_144+4205dup)
c.139+4203_139+4205dup
c.118+4203_118+4205dup
c.151_153dup
7g.66633412G>ACA455937374KCTD7c.282G>A (p.Arg94=)
c.260G>A
c.144+4204G>A (n.144+4204G>A)
c.139+4204G>A
c.118+4204G>A
c.152G>A
 gnomAD v4
7g.66633412G>CCA455937372KCTD7c.282G>C (p.Arg94=)
c.260G>C
c.144+4204G>C (n.144+4204G>C)
c.139+4204G>C
c.118+4204G>C
c.152G>C
7g.66633412G>TCA455937371KCTD7c.282G>T (p.Arg94=)
c.260G>T
c.144+4204G>T (n.144+4204G>T)
c.139+4204G>T
c.118+4204G>T
c.152G>T
7g.66633413T>ACA367695711KCTD7c.283T>A (p.Tyr95Asn)
c.261T>A
c.144+4205T>A (n.144+4205T>A)
c.139+4205T>A
c.118+4205T>A
c.153T>A
7g.66633413T>CCA367695713KCTD7c.283T>C (p.Tyr95His)
c.261T>C
c.144+4205T>C (n.144+4205T>C)
c.139+4205T>C
c.118+4205T>C
c.153T>C
7g.66633413T>GCA367695712KCTD7c.283T>G (p.Tyr95Asp)
c.261T>G
c.144+4205T>G (n.144+4205T>G)
c.139+4205T>G
c.118+4205T>G
c.153T>G
7g.66633414A>CCA367695714KCTD7c.284A>C (p.Tyr95Ser)
c.262A>C
c.144+4206A>C (n.144+4206A>C)
c.139+4206A>C
c.118+4206A>C
c.154A>C
7g.66633414A>GCA367695715KCTD7c.284A>G (p.Tyr95Cys)
c.262A>G
c.144+4206A>G (n.144+4206A>G)
c.139+4206A>G
c.118+4206A>G
c.154A>G
7g.66633414A>TCA367695716KCTD7c.284A>T (p.Tyr95Phe)
c.262A>T
c.144+4206A>T (n.144+4206A>T)
c.139+4206A>T
c.118+4206A>T
c.154A>T
7g.66633415C>ACA367695717KCTD7c.285C>A (p.Tyr95Ter)
c.263C>A
c.144+4207C>A (n.144+4207C>A)
c.139+4207C>A
c.118+4207C>A
c.155C>A
7g.66633415C=CA1714174508KCTD7c.285C= (p.Tyr95=)
c.263C=
c.144+4207C= (n.144+4207C=)
c.139+4207C=
c.118+4207C=
c.155C=
7g.66633415C>GCA367695718KCTD7c.285C>G (p.Tyr95Ter)
c.263C>G
c.144+4207C>G (n.144+4207C>G)
c.139+4207C>G
c.118+4207C>G
c.155C>G
 dbSNP
7g.66633415C>TCA455937385KCTD7c.285C>T (p.Tyr95=)
c.263C>T
c.144+4207C>T (n.144+4207C>T)
c.139+4207C>T
c.118+4207C>T
c.155C>T
 ClinVar dbSNP
7g.66633416T>ACA367695719KCTD7c.286T>A (p.Phe96Ile)
c.264T>A
c.144+4208T>A (n.144+4208T>A)
c.139+4208T>A
c.118+4208T>A
c.156T>A
7g.66633416T>CCA367695720KCTD7c.286T>C (p.Phe96Leu)
c.264T>C
c.144+4208T>C (n.144+4208T>C)
c.139+4208T>C
c.118+4208T>C
c.156T>C
7g.66633416T>GCA367695721KCTD7c.286T>G (p.Phe96Val)
c.264T>G
c.144+4208T>G (n.144+4208T>G)
c.139+4208T>G
c.118+4208T>G
c.156T>G
7g.66633417T>ACA367695722KCTD7c.287T>A (p.Phe96Tyr)
c.265T>A
c.144+4209T>A (n.144+4209T>A)
c.139+4209T>A
c.118+4209T>A
c.157T>A
7g.66633417T>CCA367695723KCTD7c.287T>C (p.Phe96Ser)
c.265T>C
c.144+4209T>C (n.144+4209T>C)
c.139+4209T>C
c.118+4209T>C
c.157T>C
7g.66633417T>GCA367695724KCTD7c.287T>G (p.Phe96Cys)
c.265T>G
c.144+4209T>G (n.144+4209T>G)
c.139+4209T>G
c.118+4209T>G
c.157T>G
7g.66633418C>ACA367695726KCTD7c.288C>A (p.Phe96Leu)
c.266C>A
c.144+4210C>A (n.144+4210C>A)
c.139+4210C>A
c.118+4210C>A
c.158C>A
 gnomAD v4
7g.66633418C=CA1714174509KCTD7c.288C= (p.Phe96=)
c.266C=
c.144+4210C= (n.144+4210C=)
c.139+4210C=
c.118+4210C=
c.158C=
7g.66633418C>GCA367695725KCTD7c.288C>G (p.Phe96Leu)
c.266C>G
c.144+4210C>G (n.144+4210C>G)
c.139+4210C>G
c.118+4210C>G
c.158C>G
7g.66633418C>TCA455937397KCTD7c.288C>T (p.Phe96=)
c.266C>T
c.144+4210C>T (n.144+4210C>T)
c.139+4210C>T
c.118+4210C>T
c.158C>T
 dbSNP gnomAD v2 gnomAD v4
7g.66633419A=CA1714174510KCTD7c.289A= (p.Ile97=)
c.267A=
c.144+4211A= (n.144+4211A=)
c.139+4211A=
c.118+4211A=
c.159A=
7g.66633419A>CCA367695727KCTD7c.289A>C (p.Ile97Leu)
c.267A>C
c.144+4211A>C (n.144+4211A>C)
c.139+4211A>C
c.118+4211A>C
c.159A>C
7g.66633419A>GCA367695728KCTD7c.289A>G (p.Ile97Val)
c.267A>G
c.144+4211A>G (n.144+4211A>G)
c.139+4211A>G
c.118+4211A>G
c.159A>G
 dbSNP gnomAD v2 gnomAD v4
7g.66633419A>TCA367695729KCTD7c.289A>T (p.Ile97Phe)
c.267A>T
c.144+4211A>T (n.144+4211A>T)
c.139+4211A>T
c.118+4211A>T
c.159A>T
7g.66633420T>ACA367695730KCTD7c.290T>A (p.Ile97Asn)
c.268T>A
c.144+4212T>A (n.144+4212T>A)
c.139+4212T>A
c.118+4212T>A
c.160T>A
7g.66633420T>CCA367695731KCTD7c.290T>C (p.Ile97Thr)
c.268T>C
c.144+4212T>C (n.144+4212T>C)
c.139+4212T>C
c.118+4212T>C
c.160T>C
7g.66633420T>GCA367695732KCTD7c.290T>G (p.Ile97Ser)
c.268T>G
c.144+4212T>G (n.144+4212T>G)
c.139+4212T>G
c.118+4212T>G
c.160T>G
7g.66633421C>ACA455937404KCTD7c.291C>A (p.Ile97=)
c.269C>A
c.144+4213C>A (n.144+4213C>A)
c.139+4213C>A
c.118+4213C>A
c.161C>A
7g.66633421C=CA1714174511KCTD7c.291C= (p.Ile97=)
c.269C=
c.144+4213C= (n.144+4213C=)
c.139+4213C=
c.118+4213C=
c.161C=
7g.66633421C>GCA367695733KCTD7c.291C>G (p.Ile97Met)
c.269C>G
c.144+4213C>G (n.144+4213C>G)
c.139+4213C>G
c.118+4213C>G
c.161C>G
7g.66633421C>TCA4278217KCTD7c.291C>T (p.Ile97=)
c.269C>T
c.144+4213C>T (n.144+4213C>T)
c.139+4213C>T
c.118+4213C>T
c.161C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633422G>ACA367695734KCTD7c.292G>A (p.Asp98Asn)
c.270G>A
c.144+4214G>A (n.144+4214G>A)
c.139+4214G>A
c.118+4214G>A
c.162G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.66633422G>CCA367695735KCTD7c.292G>C (p.Asp98His)
c.270G>C
c.144+4214G>C (n.144+4214G>C)
c.139+4214G>C
c.118+4214G>C
c.162G>C
7g.66633422G=CA1714174512KCTD7c.292G= (p.Asp98=)
c.270G=
c.144+4214G= (n.144+4214G=)
c.139+4214G=
c.118+4214G=
c.162G=
7g.66633422G>TCA367695736KCTD7c.292G>T (p.Asp98Tyr)
c.270G>T
c.144+4214G>T (n.144+4214G>T)
c.139+4214G>T
c.118+4214G>T
c.162G>T
7g.66633423A>CCA367695738KCTD7c.293A>C (p.Asp98Ala)
c.271A>C
c.144+4215A>C (n.144+4215A>C)
c.139+4215A>C
c.118+4215A>C
c.163A>C
7g.66633423A>GCA367695739KCTD7c.293A>G (p.Asp98Gly)
c.271A>G
c.144+4215A>G (n.144+4215A>G)
c.139+4215A>G
c.118+4215A>G
c.163A>G
 gnomAD v4
7g.66633423A>TCA367695737KCTD7c.293A>T (p.Asp98Val)
c.271A>T
c.144+4215A>T (n.144+4215A>T)
c.139+4215A>T
c.118+4215A>T
c.163A>T
7g.66633424C>ACA367695740KCTD7c.294C>A (p.Asp98Glu)
c.272C>A
c.144+4216C>A (n.144+4216C>A)
c.139+4216C>A
c.118+4216C>A
c.164C>A
7g.66633424C>GCA367695741KCTD7c.294C>G (p.Asp98Glu)
c.272C>G
c.144+4216C>G (n.144+4216C>G)
c.139+4216C>G
c.118+4216C>G
c.164C>G
7g.66633424C>TCA455937416KCTD7c.294C>T (p.Asp98=)
c.272C>T
c.144+4216C>T (n.144+4216C>T)
c.139+4216C>T
c.118+4216C>T
c.164C>T
 ClinVar gnomAD v4
7g.66633424_66633425insACTCA2776256139KCTD7c.294_295insACT (p.Asp98_Arg99insThr)
c.272_273insACT
c.144+4216_144+4217insACT (n.144+4216_144+4217insACT)
c.139+4216_139+4217insACT
c.118+4216_118+4217insACT
c.164_165insACT
7g.66633425C>ACA4278218KCTD7c.295C>A (p.Arg99=)
c.273C>A
c.144+4217C>A (n.144+4217C>A)
c.139+4217C>A
c.118+4217C>A
c.165C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633425C=CA1714174513KCTD7c.295C= (p.Arg99=)
c.273C=
c.144+4217C= (n.144+4217C=)
c.139+4217C=
c.118+4217C=
c.165C=
7g.66633425C>GCA367695742KCTD7c.295C>G (p.Arg99Gly)
c.273C>G
c.144+4217C>G (n.144+4217C>G)
c.139+4217C>G
c.118+4217C>G
c.165C>G
 gnomAD v4
7g.66633425C>TCA114572KCTD7c.295C>T (p.Arg99Ter)
c.273C>T
c.144+4217C>T (n.144+4217C>T)
c.139+4217C>T
c.118+4217C>T
c.165C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.66633426G>ACA367695743KCTD7c.296G>A (p.Arg99Gln)
c.274G>A
c.144+4218G>A (n.144+4218G>A)
c.139+4218G>A
c.118+4218G>A
c.166G>A
 dbSNP gnomAD v2 gnomAD v4
7g.66633426G>CCA367695744KCTD7c.296G>C (p.Arg99Pro)
c.274G>C
c.144+4218G>C (n.144+4218G>C)
c.139+4218G>C
c.118+4218G>C
c.166G>C
7g.66633426G=CA1714174514KCTD7c.296G= (p.Arg99=)
c.274G=
c.144+4218G= (n.144+4218G=)
c.139+4218G=
c.118+4218G=
c.166G=
7g.66633426G>TCA367695745KCTD7c.296G>T (p.Arg99Leu)
c.274G>T
c.144+4218G>T (n.144+4218G>T)
c.139+4218G>T
c.118+4218G>T
c.166G>T
 ClinVar dbSNP
7g.66633427A>CCA455937423KCTD7c.297A>C (p.Arg99=)
c.275A>C
c.144+4219A>C (n.144+4219A>C)
c.139+4219A>C
c.118+4219A>C
c.167A>C
7g.66633427A>GCA455937424KCTD7c.297A>G (p.Arg99=)
c.275A>G
c.144+4219A>G (n.144+4219A>G)
c.139+4219A>G
c.118+4219A>G
c.167A>G
7g.66633427A>TCA455937427KCTD7c.297A>T (p.Arg99=)
c.275A>T
c.144+4219A>T (n.144+4219A>T)
c.139+4219A>T
c.118+4219A>T
c.167A>T
7g.66633428G>ACA367695746KCTD7c.298G>A (p.Asp100Asn)
c.276G>A
c.144+4220G>A (n.144+4220G>A)
c.139+4220G>A
c.118+4220G>A
c.168G>A
7g.66633428G>CCA367695747KCTD7c.298G>C (p.Asp100His)
c.276G>C
c.144+4220G>C (n.144+4220G>C)
c.139+4220G>C
c.118+4220G>C
c.168G>C
 gnomAD v4
7g.66633428G>TCA367695748KCTD7c.298G>T (p.Asp100Tyr)
c.276G>T
c.144+4220G>T (n.144+4220G>T)
c.139+4220G>T
c.118+4220G>T
c.168G>T
7g.66633429A=CA1714174515KCTD7c.299A= (p.Asp100=)
c.277A=
c.144+4221A= (n.144+4221A=)
c.139+4221A=
c.118+4221A=
c.169A=
7g.66633429A>CCA367695750KCTD7c.299A>C (p.Asp100Ala)
c.277A>C
c.144+4221A>C (n.144+4221A>C)
c.139+4221A>C
c.118+4221A>C
c.169A>C
7g.66633429A>GCA367695751KCTD7c.299A>G (p.Asp100Gly)
c.277A>G
c.144+4221A>G (n.144+4221A>G)
c.139+4221A>G
c.118+4221A>G
c.169A>G
 dbSNP
7g.66633429A>TCA367695749KCTD7c.299A>T (p.Asp100Val)
c.277A>T
c.144+4221A>T (n.144+4221A>T)
c.139+4221A>T
c.118+4221A>T
c.169A>T
7g.66633430T>ACA367695752KCTD7c.300T>A (p.Asp100Glu)
c.278T>A
c.144+4222T>A (n.144+4222T>A)
c.139+4222T>A
c.118+4222T>A
c.170T>A
7g.66633430T>CCA455937436KCTD7c.300T>C (p.Asp100=)
c.278T>C
c.144+4222T>C (n.144+4222T>C)
c.139+4222T>C
c.118+4222T>C
c.170T>C
7g.66633430T>GCA367695753KCTD7c.300T>G (p.Asp100Glu)
c.278T>G
c.144+4222T>G (n.144+4222T>G)
c.139+4222T>G
c.118+4222T>G
c.170T>G
7g.66633431G>ACA367695754KCTD7c.301G>A (p.Gly101Ser)
c.279G>A
c.144+4223G>A (n.144+4223G>A)
c.139+4223G>A
c.118+4223G>A
c.171G>A
7g.66633431G>CCA367695755KCTD7c.301G>C (p.Gly101Arg)
c.279G>C
c.144+4223G>C (n.144+4223G>C)
c.139+4223G>C
c.118+4223G>C
c.171G>C
7g.66633431G>TCA367695756KCTD7c.301G>T (p.Gly101Cys)
c.279G>T
c.144+4223G>T (n.144+4223G>T)
c.139+4223G>T
c.118+4223G>T
c.171G>T
7g.66633432G>ACA367695759KCTD7c.302G>A (p.Gly101Asp)
c.280G>A
c.144+4224G>A (n.144+4224G>A)
c.139+4224G>A
c.118+4224G>A
c.172G>A
 ClinVar dbSNP
7g.66633432G>CCA367695757KCTD7c.302G>C (p.Gly101Ala)
c.280G>C
c.144+4224G>C (n.144+4224G>C)
c.139+4224G>C
c.118+4224G>C
c.172G>C
7g.66633432G=CA1714174516KCTD7c.302G= (p.Gly101=)
c.280G=
c.144+4224G= (n.144+4224G=)
c.139+4224G=
c.118+4224G=
c.172G=
7g.66633432G>TCA367695758KCTD7c.302G>T (p.Gly101Val)
c.280G>T
c.144+4224G>T (n.144+4224G>T)
c.139+4224G>T
c.118+4224G>T
c.172G>T
7g.66633433C>ACA455937446KCTD7c.303C>A (p.Gly101=)
c.281C>A
c.144+4225C>A (n.144+4225C>A)
c.139+4225C>A
c.118+4225C>A
c.173C>A
7g.66633433C>GCA455937448KCTD7c.303C>G (p.Gly101=)
c.281C>G
c.144+4225C>G (n.144+4225C>G)
c.139+4225C>G
c.118+4225C>G
c.173C>G
7g.66633433C>TCA455937450KCTD7c.303C>T (p.Gly101=)
c.281C>T
c.144+4225C>T (n.144+4225C>T)
c.139+4225C>T
c.118+4225C>T
c.173C>T
7g.66633434A>CCA367695760KCTD7c.304A>C (p.Thr102Pro)
c.282A>C
c.144+4226A>C (n.144+4226A>C)
c.139+4226A>C
c.118+4226A>C
c.174A>C
7g.66633434A>GCA367695761KCTD7c.304A>G (p.Thr102Ala)
c.282A>G
c.144+4226A>G (n.144+4226A>G)
c.139+4226A>G
c.118+4226A>G
c.174A>G
7g.66633434A>TCA367695762KCTD7c.304A>T (p.Thr102Ser)
c.282A>T
c.144+4226A>T (n.144+4226A>T)
c.139+4226A>T
c.118+4226A>T
c.174A>T
7g.66633435C>ACA367695763KCTD7c.305C>A (p.Thr102Lys)
c.283C>A
c.144+4227C>A (n.144+4227C>A)
c.139+4227C>A
c.118+4227C>A
c.175C>A
 dbSNP
7g.66633435C=CA1714174517KCTD7c.305C= (p.Thr102=)
c.283C=
c.144+4227C= (n.144+4227C=)
c.139+4227C=
c.118+4227C=
c.175C=
7g.66633435C>GCA367695764KCTD7c.305C>G (p.Thr102Arg)
c.283C>G
c.144+4227C>G (n.144+4227C>G)
c.139+4227C>G
c.118+4227C>G
c.175C>G
7g.66633435C>TCA367695765KCTD7c.305C>T (p.Thr102Ile)
c.283C>T
c.144+4227C>T (n.144+4227C>T)
c.139+4227C>T
c.118+4227C>T
c.175C>T
7g.66633436A=CA1714174518KCTD7c.306A= (p.Thr102=)
c.284A=
c.144+4228A= (n.144+4228A=)
c.139+4228A=
c.118+4228A=
c.176A=
7g.66633436A>CCA455937459KCTD7c.306A>C (p.Thr102=)
c.284A>C
c.144+4228A>C (n.144+4228A>C)
c.139+4228A>C
c.118+4228A>C
c.176A>C
 dbSNP gnomAD v4
7g.66633436A>GCA455937461KCTD7c.306A>G (p.Thr102=)
c.284A>G
c.144+4228A>G (n.144+4228A>G)
c.139+4228A>G
c.118+4228A>G
c.176A>G
7g.66633436A>TCA455937462KCTD7c.306A>T (p.Thr102=)
c.284A>T
c.144+4228A>T (n.144+4228A>T)
c.139+4228A>T
c.118+4228A>T
c.176A>T
7g.66633437C>ACA367695767KCTD7c.307C>A (p.His103Asn)
c.285C>A
c.144+4229C>A (n.144+4229C>A)
c.139+4229C>A
c.118+4229C>A
c.177C>A
7g.66633437C>GCA367695768KCTD7c.307C>G (p.His103Asp)
c.285C>G
c.144+4229C>G (n.144+4229C>G)
c.139+4229C>G
c.118+4229C>G
c.177C>G
7g.66633437C>TCA367695766KCTD7c.307C>T (p.His103Tyr)
c.285C>T
c.144+4229C>T (n.144+4229C>T)
c.139+4229C>T
c.118+4229C>T
c.177C>T
7g.66633438A>CCA367695770KCTD7c.308A>C (p.His103Pro)
c.286A>C
c.144+4230A>C (n.144+4230A>C)
c.139+4230A>C
c.118+4230A>C
c.178A>C
7g.66633438A>GCA367695769KCTD7c.308A>G (p.His103Arg)
c.286A>G
c.144+4230A>G (n.144+4230A>G)
c.139+4230A>G
c.118+4230A>G
c.178A>G
 ClinVar dbSNP
7g.66633438A>TCA367695771KCTD7c.308A>T (p.His103Leu)
c.286A>T
c.144+4230A>T (n.144+4230A>T)
c.139+4230A>T
c.118+4230A>T
c.178A>T
7g.66633439C>ACA367695772KCTD7c.309C>A (p.His103Gln)
c.287C>A
c.144+4231C>A (n.144+4231C>A)
c.139+4231C>A
c.118+4231C>A
c.179C>A
7g.66633439C>GCA367695773KCTD7c.309C>G (p.His103Gln)
c.287C>G
c.144+4231C>G (n.144+4231C>G)
c.139+4231C>G
c.118+4231C>G
c.179C>G
7g.66633439C>TCA455937472KCTD7c.309C>T (p.His103=)
c.287C>T
c.144+4231C>T (n.144+4231C>T)
c.139+4231C>T
c.118+4231C>T
c.179C>T
 gnomAD v4
7g.66633440T>ACA367695774KCTD7c.310T>A (p.Phe104Ile)
c.288T>A
c.144+4232T>A (n.144+4232T>A)
c.139+4232T>A
c.118+4232T>A
c.180T>A
7g.66633440T>CCA367695775KCTD7c.310T>C (p.Phe104Leu)
c.288T>C
c.144+4232T>C (n.144+4232T>C)
c.139+4232T>C
c.118+4232T>C
c.180T>C
7g.66633440T>GCA367695776KCTD7c.310T>G (p.Phe104Val)
c.288T>G
c.144+4232T>G (n.144+4232T>G)
c.139+4232T>G
c.118+4232T>G
c.180T>G
7g.66633441T>ACA367695777KCTD7c.311T>A (p.Phe104Tyr)
c.289T>A
c.144+4233T>A (n.144+4233T>A)
c.139+4233T>A
c.118+4233T>A
c.181T>A
7g.66633441T>CCA367695778KCTD7c.311T>C (p.Phe104Ser)
c.289T>C
c.144+4233T>C (n.144+4233T>C)
c.139+4233T>C
c.118+4233T>C
c.181T>C
7g.66633441T>GCA367695779KCTD7c.311T>G (p.Phe104Cys)
c.289T>G
c.144+4233T>G (n.144+4233T>G)
c.139+4233T>G
c.118+4233T>G
c.181T>G
7g.66633442T>ACA367695780KCTD7c.312T>A (p.Phe104Leu)
c.290T>A
c.144+4234T>A (n.144+4234T>A)
c.139+4234T>A
c.118+4234T>A
c.182T>A
7g.66633442T>CCA455937482KCTD7c.312T>C (p.Phe104=)
c.290T>C
c.144+4234T>C (n.144+4234T>C)
c.139+4234T>C
c.118+4234T>C
c.182T>C
7g.66633442T>GCA367695781KCTD7c.312T>G (p.Phe104Leu)
c.290T>G
c.144+4234T>G (n.144+4234T>G)
c.139+4234T>G
c.118+4234T>G
c.182T>G
7g.66633442T=CA1714174519KCTD7c.312T= (p.Phe104=)
c.290T=
c.144+4234T= (n.144+4234T=)
c.139+4234T=
c.118+4234T=
c.182T=
7g.66633443G>ACA367695782KCTD7c.313G>A (p.Gly105Arg)
c.291G>A
c.144+4235G>A (n.144+4235G>A)
c.139+4235G>A
c.118+4235G>A
c.183G>A
 dbSNP
7g.66633443G>CCA367695783KCTD7c.313G>C (p.Gly105Arg)
c.291G>C
c.144+4235G>C (n.144+4235G>C)
c.139+4235G>C
c.118+4235G>C
c.183G>C
 dbSNP
7g.66633443G=CA1714174520KCTD7c.313G= (p.Gly105=)
c.291G=
c.144+4235G= (n.144+4235G=)
c.139+4235G=
c.118+4235G=
c.183G=
7g.66633443G>TCA367695784KCTD7c.313G>T (p.Gly105Ter)
c.291G>T
c.144+4235G>T (n.144+4235G>T)
c.139+4235G>T
c.118+4235G>T
c.183G>T
7g.66633445dupCA160219748KCTD7c.314+1dup
c.292+1dup
c.144+4237dup (n.144+4237dup)
c.139+4237dup
c.118+4237dup
c.184+1dup
 dbSNP
7g.66633444G>ACA367695787KCTD7c.314G>A (p.Gly105Glu)
c.292G>A
c.144+4236G>A (n.144+4236G>A)
c.139+4236G>A
c.118+4236G>A
c.184G>A
 gnomAD v4
7g.66633444G>CCA367695785KCTD7c.314G>C (p.Gly105Ala)
c.292G>C
c.144+4236G>C (n.144+4236G>C)
c.139+4236G>C
c.118+4236G>C
c.184G>C
7g.66633444G>TCA367695786KCTD7c.314G>T (p.Gly105Val)
c.292G>T
c.144+4236G>T (n.144+4236G>T)
c.139+4236G>T
c.118+4236G>T
c.184G>T
7g.66633445G>ACA367695788KCTD7c.314+1G>A (n.314+1G>A)
c.292+1G>A
c.144+4237G>A (n.144+4237G>A)
c.139+4237G>A
c.118+4237G>A
c.184+1G>A
 ClinVar dbSNP gnomAD v4
7g.66633445G>CCA367695789KCTD7c.314+1G>C (n.314+1G>C)
c.292+1G>C
c.144+4237G>C (n.144+4237G>C)
c.139+4237G>C
c.118+4237G>C
c.184+1G>C
7g.66633445G=CA1714174521KCTD7c.314+1G= (n.314+1G=)
c.292+1G=
c.144+4237G= (n.144+4237G=)
c.139+4237G=
c.118+4237G=
c.184+1G=
7g.66633445G>TCA367695790KCTD7c.314+1G>T (n.314+1G>T)
c.292+1G>T
c.144+4237G>T (n.144+4237G>T)
c.139+4237G>T
c.118+4237G>T
c.184+1G>T
 gnomAD v4
7g.66633446T>ACA367695791KCTD7c.314+2T>A (n.314+2T>A)
c.292+2T>A
c.144+4238T>A (n.144+4238T>A)
c.139+4238T>A
c.118+4238T>A
c.184+2T>A
7g.66633446T>CCA367695792KCTD7c.314+2T>C (n.314+2T>C)
c.292+2T>C
c.144+4238T>C (n.144+4238T>C)
c.139+4238T>C
c.118+4238T>C
c.184+2T>C
7g.66633446T>GCA367695793KCTD7c.314+2T>G (n.314+2T>G)
c.292+2T>G
c.144+4238T>G (n.144+4238T>G)
c.139+4238T>G
c.118+4238T>G
c.184+2T>G
7g.66633447A=CA1714174522KCTD7c.314+3A= (n.314+3A=)
c.292+3A=
c.144+4239A= (n.144+4239A=)
c.139+4239A=
c.118+4239A=
c.184+3A=
7g.66633447A>CCA1714174523KCTD7c.314+3A>C (n.314+3A>C)
c.292+3A>C
c.144+4239A>C (n.144+4239A>C)
c.139+4239A>C
c.118+4239A>C
c.184+3A>C
 dbSNP
7g.66633447A>GCA2683113722KCTD7c.314+3A>G (n.314+3A>G)
c.292+3A>G
c.144+4239A>G (n.144+4239A>G)
c.139+4239A>G
c.118+4239A>G
c.184+3A>G
 gnomAD v4
7g.66633449G>CCA160219749KCTD7c.314+5G>C (n.314+5G>C)
c.292+5G>C
c.144+4241G>C (n.144+4241G>C)
c.139+4241G>C
c.118+4241G>C
c.184+5G>C
 dbSNP gnomAD v4
7g.66633449G=CA1714174524KCTD7c.314+5G= (n.314+5G=)
c.292+5G=
c.144+4241G= (n.144+4241G=)
c.139+4241G=
c.118+4241G=
c.184+5G=
7g.66633451C>ACA2683113723KCTD7c.314+7C>A (n.314+7C>A)
c.292+7C>A
c.144+4243C>A (n.144+4243C>A)
c.139+4243C>A
c.118+4243C>A
c.184+7C>A
 gnomAD v4
7g.66633453C=CA1714174525KCTD7c.314+9C= (n.314+9C=)
c.292+9C=
c.144+4245C= (n.144+4245C=)
c.139+4245C=
c.118+4245C=
c.184+9C=
7g.66633453C>TCA4278219KCTD7c.314+9C>T (n.314+9C>T)
c.292+9C>T
c.144+4245C>T (n.144+4245C>T)
c.139+4245C>T
c.118+4245C>T
c.184+9C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633455C=CA1714174526KCTD7c.314+11C= (n.314+11C=)
c.292+11C=
c.144+4247C= (n.144+4247C=)
c.139+4247C=
c.118+4247C=
c.184+11C=
7g.66633455C>GCA4278220KCTD7c.314+11C>G (n.314+11C>G)
c.292+11C>G
c.144+4247C>G (n.144+4247C>G)
c.139+4247C>G
c.118+4247C>G
c.184+11C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633455C>TCA575262129KCTD7c.314+11C>T (n.314+11C>T)
c.292+11C>T
c.144+4247C>T (n.144+4247C>T)
c.139+4247C>T
c.118+4247C>T
c.184+11C>T
 dbSNP gnomAD v2 gnomAD v4
7g.66633456C>TCA2683113724KCTD7c.314+12C>T (n.314+12C>T)
c.292+12C>T
c.144+4248C>T (n.144+4248C>T)
c.139+4248C>T
c.118+4248C>T
c.184+12C>T
 gnomAD v4
7g.66633457C>ACA2578900511KCTD7c.314+13C>A (n.314+13C>A)
c.292+13C>A
c.144+4249C>A (n.144+4249C>A)
c.139+4249C>A
c.118+4249C>A
c.184+13C>A
7g.66633457C=CA1714174527KCTD7c.314+13C= (n.314+13C=)
c.292+13C=
c.144+4249C= (n.144+4249C=)
c.139+4249C=
c.118+4249C=
c.184+13C=
7g.66633457C>GCA1714174528KCTD7c.314+13C>G (n.314+13C>G)
c.292+13C>G
c.144+4249C>G (n.144+4249C>G)
c.139+4249C>G
c.118+4249C>G
c.184+13C>G
 dbSNP
7g.66633457C>TCA2573142308KCTD7c.314+13C>T (n.314+13C>T)
c.292+13C>T
c.144+4249C>T (n.144+4249C>T)
c.139+4249C>T
c.118+4249C>T
c.184+13C>T
 ClinVar dbSNP gnomAD v4
7g.66633461A=CA1714174529KCTD7c.314+17A= (n.314+17A=)
c.292+17A=
c.144+4253A= (n.144+4253A=)
c.139+4253A=
c.118+4253A=
c.184+17A=
7g.66633461A>GCA1714174530KCTD7c.314+17A>G (n.314+17A>G)
c.292+17A>G
c.144+4253A>G (n.144+4253A>G)
c.139+4253A>G
c.118+4253A>G
c.184+17A>G
 dbSNP gnomAD v4
7g.66633462C>ACA575145116KCTD7c.314+18C>A (n.314+18C>A)
c.292+18C>A
c.144+4254C>A (n.144+4254C>A)
c.139+4254C>A
c.118+4254C>A
c.184+18C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.66633462C=CA1714174531KCTD7c.314+18C= (n.314+18C=)
c.292+18C=
c.144+4254C= (n.144+4254C=)
c.139+4254C=
c.118+4254C=
c.184+18C=
7g.66633462C>GCA575145118KCTD7c.314+18C>G (n.314+18C>G)
c.292+18C>G
c.144+4254C>G (n.144+4254C>G)
c.139+4254C>G
c.118+4254C>G
c.184+18C>G
 dbSNP gnomAD v2 gnomAD v4
7g.66633463A=CA1714174532KCTD7c.314+19A= (n.314+19A=)
c.292+19A=
c.144+4255A= (n.144+4255A=)
c.139+4255A=
c.118+4255A=
c.184+19A=
7g.66633463A>CCA2580077304KCTD7c.314+19A>C (n.314+19A>C)
c.292+19A>C
c.144+4255A>C (n.144+4255A>C)
c.139+4255A>C
c.118+4255A>C
c.184+19A>C
 ClinVar
7g.66633463A>GCA4278221KCTD7c.314+19A>G (n.314+19A>G)
c.292+19A>G
c.144+4255A>G (n.144+4255A>G)
c.139+4255A>G
c.118+4255A>G
c.184+19A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633464A=CA1714174533KCTD7c.314+20A= (n.314+20A=)
c.292+20A=
c.144+4256A= (n.144+4256A=)
c.139+4256A=
c.118+4256A=
c.184+20A=
7g.66633464A>GCA841292882KCTD7c.314+20A>G (n.314+20A>G)
c.292+20A>G
c.144+4256A>G (n.144+4256A>G)
c.139+4256A>G
c.118+4256A>G
c.184+20A>G
 dbSNP gnomAD v3 gnomAD v4
7g.66633464A>TCA2683113725KCTD7c.314+20A>T (n.314+20A>T)
c.292+20A>T
c.144+4256A>T (n.144+4256A>T)
c.139+4256A>T
c.118+4256A>T
c.184+20A>T
 gnomAD v4
7g.66633466C>ACA2683113726KCTD7c.314+22C>A (n.314+22C>A)
c.292+22C>A
c.144+4258C>A (n.144+4258C>A)
c.139+4258C>A
c.118+4258C>A
c.184+22C>A
 gnomAD v4
7g.66633466C>GCA2683113727KCTD7c.314+22C>G (n.314+22C>G)
c.292+22C>G
c.144+4258C>G (n.144+4258C>G)
c.139+4258C>G
c.118+4258C>G
c.184+22C>G
 gnomAD v4
7g.66633468A=CA1714174534KCTD7c.314+24A= (n.314+24A=)
c.292+24A=
c.144+4260A= (n.144+4260A=)
c.139+4260A=
c.118+4260A=
c.184+24A=
7g.66633468A>CCA2683113728KCTD7c.314+24A>C (n.314+24A>C)
c.292+24A>C
c.144+4260A>C (n.144+4260A>C)
c.139+4260A>C
c.118+4260A>C
c.184+24A>C
 gnomAD v4
7g.66633468A>GCA4278222KCTD7c.314+24A>G (n.314+24A>G)
c.292+24A>G
c.144+4260A>G (n.144+4260A>G)
c.139+4260A>G
c.118+4260A>G
c.184+24A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633468A>TCA1714174535KCTD7c.314+24A>T (n.314+24A>T)
c.292+24A>T
c.144+4260A>T (n.144+4260A>T)
c.139+4260A>T
c.118+4260A>T
c.184+24A>T
 dbSNP
7g.66633469C>ACA2683113729KCTD7c.314+25C>A (n.314+25C>A)
c.292+25C>A
c.144+4261C>A (n.144+4261C>A)
c.139+4261C>A
c.118+4261C>A
c.184+25C>A
 gnomAD v4
7g.66633469C=CA1714174536KCTD7c.314+25C= (n.314+25C=)
c.292+25C=
c.144+4261C= (n.144+4261C=)
c.139+4261C=
c.118+4261C=
c.184+25C=
7g.66633469C>GCA4278223KCTD7c.314+25C>G (n.314+25C>G)
c.292+25C>G
c.144+4261C>G (n.144+4261C>G)
c.139+4261C>G
c.118+4261C>G
c.184+25C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633471T>CCA1714174538KCTD7c.314+27T>C (n.314+27T>C)
c.292+27T>C
c.144+4263T>C (n.144+4263T>C)
c.139+4263T>C
c.118+4263T>C
c.184+27T>C
 dbSNP gnomAD v4
7g.66633471T=CA1714174537KCTD7c.314+27T= (n.314+27T=)
c.292+27T=
c.144+4263T= (n.144+4263T=)
c.139+4263T=
c.118+4263T=
c.184+27T=
7g.66633472T>CCA2683113730KCTD7c.314+28T>C (n.314+28T>C)
c.292+28T>C
c.144+4264T>C (n.144+4264T>C)
c.139+4264T>C
c.118+4264T>C
c.184+28T>C
 gnomAD v4
7g.66633472T>GCA2683113731KCTD7c.314+28T>G (n.314+28T>G)
c.292+28T>G
c.144+4264T>G (n.144+4264T>G)
c.139+4264T>G
c.118+4264T>G
c.184+28T>G
 gnomAD v4
7g.66633473G>ACA4278224KCTD7c.314+29G>A (n.314+29G>A)
c.292+29G>A
c.144+4265G>A (n.144+4265G>A)
c.139+4265G>A
c.118+4265G>A
c.184+29G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633473G=CA1714174539KCTD7c.314+29G= (n.314+29G=)
c.292+29G=
c.144+4265G= (n.144+4265G=)
c.139+4265G=
c.118+4265G=
c.184+29G=
7g.66633474T>GCA841292885KCTD7c.314+30T>G (n.314+30T>G)
c.292+30T>G
c.144+4266T>G (n.144+4266T>G)
c.139+4266T>G
c.118+4266T>G
c.184+30T>G
 dbSNP
7g.66633474T=CA1714174540KCTD7c.314+30T= (n.314+30T=)
c.292+30T=
c.144+4266T= (n.144+4266T=)
c.139+4266T=
c.118+4266T=
c.184+30T=
7g.66633474dupCA2683113732KCTD7c.314+30dup (n.314+30dup)
c.292+30dup
c.144+4266dup (n.144+4266dup)
c.139+4266dup
c.118+4266dup
c.184+30dup
 gnomAD v4
7g.66633475A=CA1714174541KCTD7c.314+31A= (n.314+31A=)
c.292+31A=
c.144+4267A= (n.144+4267A=)
c.139+4267A=
c.118+4267A=
c.184+31A=
7g.66633475A>GCA1714174542KCTD7c.314+31A>G (n.314+31A>G)
c.292+31A>G
c.144+4267A>G (n.144+4267A>G)
c.139+4267A>G
c.118+4267A>G
c.184+31A>G
 dbSNP gnomAD v4
7g.66633476G=CA1714174543KCTD7c.314+32G= (n.314+32G=)
c.292+32G=
c.144+4268G= (n.144+4268G=)
c.139+4268G=
c.118+4268G=
c.184+32G=
7g.66633476G>TCA4278225KCTD7c.314+32G>T (n.314+32G>T)
c.292+32G>T
c.144+4268G>T (n.144+4268G>T)
c.139+4268G>T
c.118+4268G>T
c.184+32G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633477T>GCA2683113733KCTD7c.314+33T>G (n.314+33T>G)
c.292+33T>G
c.144+4269T>G (n.144+4269T>G)
c.139+4269T>G
c.118+4269T>G
c.184+33T>G
 gnomAD v4
7g.66633478C>ACA2683113734KCTD7c.314+34C>A (n.314+34C>A)
c.292+34C>A
c.144+4270C>A (n.144+4270C>A)
c.139+4270C>A
c.118+4270C>A
c.184+34C>A
 gnomAD v4
7g.66633478C=CA1714174544KCTD7c.314+34C= (n.314+34C=)
c.292+34C=
c.144+4270C= (n.144+4270C=)
c.139+4270C=
c.118+4270C=
c.184+34C=
7g.66633478C>TCA1714174545KCTD7c.314+34C>T (n.314+34C>T)
c.292+34C>T
c.144+4270C>T (n.144+4270C>T)
c.139+4270C>T
c.118+4270C>T
c.184+34C>T
 dbSNP gnomAD v4
7g.66633479C>ACA2683113735KCTD7c.314+35C>A (n.314+35C>A)
c.292+35C>A
c.144+4271C>A (n.144+4271C>A)
c.139+4271C>A
c.118+4271C>A
c.184+35C>A
 gnomAD v4
7g.66633479C=CA1714174546KCTD7c.314+35C= (n.314+35C=)
c.292+35C=
c.144+4271C= (n.144+4271C=)
c.139+4271C=
c.118+4271C=
c.184+35C=
7g.66633479C>TCA160219750KCTD7c.314+35C>T (n.314+35C>T)
c.292+35C>T
c.144+4271C>T (n.144+4271C>T)
c.139+4271C>T
c.118+4271C>T
c.184+35C>T
 dbSNP
7g.66633482G>ACA2683113736KCTD7c.314+38G>A (n.314+38G>A)
c.292+38G>A
c.144+4274G>A (n.144+4274G>A)
c.139+4274G>A
c.118+4274G>A
c.184+38G>A
 gnomAD v4
7g.66633482G>CCA2683113737KCTD7c.314+38G>C (n.314+38G>C)
c.292+38G>C
c.144+4274G>C (n.144+4274G>C)
c.139+4274G>C
c.118+4274G>C
c.184+38G>C
 gnomAD v4
7g.66633483C>ACA2683113738KCTD7c.314+39C>A (n.314+39C>A)
c.292+39C>A
c.144+4275C>A (n.144+4275C>A)
c.139+4275C>A
c.118+4275C>A
c.184+39C>A
 gnomAD v4
7g.66633483C>GCA2683113739KCTD7c.314+39C>G (n.314+39C>G)
c.292+39C>G
c.144+4275C>G (n.144+4275C>G)
c.139+4275C>G
c.118+4275C>G
c.184+39C>G
 gnomAD v4
7g.66633485G>ACA1714174548KCTD7c.314+41G>A (n.314+41G>A)
c.292+41G>A
c.144+4277G>A (n.144+4277G>A)
c.139+4277G>A
c.118+4277G>A
c.184+41G>A
 dbSNP gnomAD v4
7g.66633485G=CA1714174547KCTD7c.314+41G= (n.314+41G=)
c.292+41G=
c.144+4277G= (n.144+4277G=)
c.139+4277G=
c.118+4277G=
c.184+41G=
7g.66633486G>ACA575145131KCTD7c.314+42G>A (n.314+42G>A)
c.292+42G>A
c.144+4278G>A (n.144+4278G>A)
c.139+4278G>A
c.118+4278G>A
c.184+42G>A
 dbSNP gnomAD v2 gnomAD v4
7g.66633486G=CA1714174549KCTD7c.314+42G= (n.314+42G=)
c.292+42G=
c.144+4278G= (n.144+4278G=)
c.139+4278G=
c.118+4278G=
c.184+42G=
7g.66633487T>CCA1714174551KCTD7c.314+43T>C (n.314+43T>C)
c.292+43T>C
c.144+4279T>C (n.144+4279T>C)
c.139+4279T>C
c.118+4279T>C
c.184+43T>C
 dbSNP
7g.66633487T=CA1714174550KCTD7c.314+43T= (n.314+43T=)
c.292+43T=
c.144+4279T= (n.144+4279T=)
c.139+4279T=
c.118+4279T=
c.184+43T=
7g.66633487_66633491delCA2776256141KCTD7c.314+43_314+47del (n.314+43_314+47del)
c.292+43_292+47del
c.144+4279_144+4283del (n.144+4279_144+4283del)
c.139+4279_139+4283del
c.118+4279_118+4283del
c.184+43_184+47del
7g.66633487_66633488insACA2776256143KCTD7c.314+43_314+44insA (n.314+43_314+44insA)
c.292+43_292+44insA
c.144+4279_144+4280insA (n.144+4279_144+4280insA)
c.139+4279_139+4280insA
c.118+4279_118+4280insA
c.184+43_184+44insA
7g.66633488G>ACA2776256142KCTD7c.314+44G>A (n.314+44G>A)
c.292+44G>A
c.144+4280G>A (n.144+4280G>A)
c.139+4280G>A
c.118+4280G>A
c.184+44G>A
7g.66633488G>CCA575145134KCTD7c.314+44G>C (n.314+44G>C)
c.292+44G>C
c.144+4280G>C (n.144+4280G>C)
c.139+4280G>C
c.118+4280G>C
c.184+44G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.66633488G=CA1714174552KCTD7c.314+44G= (n.314+44G=)
c.292+44G=
c.144+4280G= (n.144+4280G=)
c.139+4280G=
c.118+4280G=
c.184+44G=

Number of alleles fetched