Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.66633312A=CA1714174461KCTD7c.182A= (p.His61=)
c.160A=
c.144+4104A= (n.144+4104A=)
c.139+4104A=
c.118+4104A=
c.52A=
7g.66633312A>CCA367695508KCTD7c.182A>C (p.His61Pro)
c.160A>C
c.144+4104A>C (n.144+4104A>C)
c.139+4104A>C
c.118+4104A>C
c.52A>C
7g.66633312A>GCA4278194KCTD7c.182A>G (p.His61Arg)
c.160A>G
c.144+4104A>G (n.144+4104A>G)
c.139+4104A>G
c.118+4104A>G
c.52A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633312A>TCA367695509KCTD7c.182A>T (p.His61Leu)
c.160A>T
c.144+4104A>T (n.144+4104A>T)
c.139+4104A>T
c.118+4104A>T
c.52A>T
 dbSNP gnomAD v3 gnomAD v4
7g.66633313C>ACA367695510KCTD7c.183C>A (p.His61Gln)
c.161C>A
c.144+4105C>A (n.144+4105C>A)
c.139+4105C>A
c.118+4105C>A
c.53C>A
7g.66633313C>GCA367695511KCTD7c.183C>G (p.His61Gln)
c.161C>G
c.144+4105C>G (n.144+4105C>G)
c.139+4105C>G
c.118+4105C>G
c.53C>G
 gnomAD v4
7g.66633313C>TCA455936978KCTD7c.183C>T (p.His61=)
c.161C>T
c.144+4105C>T (n.144+4105C>T)
c.139+4105C>T
c.118+4105C>T
c.53C>T
7g.66633314T>ACA367695512KCTD7c.184T>A (p.Phe62Ile)
c.162T>A
c.144+4106T>A (n.144+4106T>A)
c.139+4106T>A
c.118+4106T>A
c.54T>A
7g.66633314T>CCA367695513KCTD7c.184T>C (p.Phe62Leu)
c.162T>C
c.144+4106T>C (n.144+4106T>C)
c.139+4106T>C
c.118+4106T>C
c.54T>C
7g.66633314T>GCA367695514KCTD7c.184T>G (p.Phe62Val)
c.162T>G
c.144+4106T>G (n.144+4106T>G)
c.139+4106T>G
c.118+4106T>G
c.54T>G
7g.66633315T>ACA367695515KCTD7c.185T>A (p.Phe62Tyr)
c.163T>A
c.144+4107T>A (n.144+4107T>A)
c.139+4107T>A
c.118+4107T>A
c.55T>A
7g.66633315T>CCA367695516KCTD7c.185T>C (p.Phe62Ser)
c.163T>C
c.144+4107T>C (n.144+4107T>C)
c.139+4107T>C
c.118+4107T>C
c.55T>C
7g.66633315T>GCA367695517KCTD7c.185T>G (p.Phe62Cys)
c.163T>G
c.144+4107T>G (n.144+4107T>G)
c.139+4107T>G
c.118+4107T>G
c.55T>G
7g.66633315_66633316delinsCTCA2580077290KCTD7c.185_186delinsCT (p.Phe62Ser)
c.163_164delinsCT
c.144+4107_144+4108delinsCT (n.144+4107_144+4108delinsCT)
c.139+4107_139+4108delinsCT
c.118+4107_118+4108delinsCT
c.55_56delinsCT
 ClinVar
7g.66633316C>ACA367695518KCTD7c.186C>A (p.Phe62Leu)
c.164C>A
c.144+4108C>A (n.144+4108C>A)
c.139+4108C>A
c.118+4108C>A
c.56C>A
7g.66633316C>GCA367695519KCTD7c.186C>G (p.Phe62Leu)
c.164C>G
c.144+4108C>G (n.144+4108C>G)
c.139+4108C>G
c.118+4108C>G
c.56C>G
7g.66633316C>TCA455936987KCTD7c.186C>T (p.Phe62=)
c.164C>T
c.144+4108C>T (n.144+4108C>T)
c.139+4108C>T
c.118+4108C>T
c.56C>T
7g.66633317A>CCA367695520KCTD7c.187A>C (p.Thr63Pro)
c.165A>C
c.144+4109A>C (n.144+4109A>C)
c.139+4109A>C
c.118+4109A>C
c.57A>C
7g.66633317A>GCA367695521KCTD7c.187A>G (p.Thr63Ala)
c.165A>G
c.144+4109A>G (n.144+4109A>G)
c.139+4109A>G
c.118+4109A>G
c.57A>G
7g.66633317A>TCA367695522KCTD7c.187A>T (p.Thr63Ser)
c.165A>T
c.144+4109A>T (n.144+4109A>T)
c.139+4109A>T
c.118+4109A>T
c.57A>T
7g.66633318C>ACA367695523KCTD7c.188C>A (p.Thr63Asn)
c.166C>A
c.144+4110C>A (n.144+4110C>A)
c.139+4110C>A
c.118+4110C>A
c.58C>A
7g.66633318C=CA1714174462KCTD7c.188C= (p.Thr63=)
c.166C=
c.144+4110C= (n.144+4110C=)
c.139+4110C=
c.118+4110C=
c.58C=
7g.66633318C>GCA367695524KCTD7c.188C>G (p.Thr63Ser)
c.166C>G
c.144+4110C>G (n.144+4110C>G)
c.139+4110C>G
c.118+4110C>G
c.58C>G
7g.66633318C>TCA367695525KCTD7c.188C>T (p.Thr63Ile)
c.166C>T
c.144+4110C>T (n.144+4110C>T)
c.139+4110C>T
c.118+4110C>T
c.58C>T
 ClinVar dbSNP gnomAD v2
7g.66633319T>ACA455937001KCTD7c.189T>A (p.Thr63=)
c.167T>A
c.144+4111T>A (n.144+4111T>A)
c.139+4111T>A
c.118+4111T>A
c.59T>A
7g.66633319T>CCA455937003KCTD7c.189T>C (p.Thr63=)
c.167T>C
c.144+4111T>C (n.144+4111T>C)
c.139+4111T>C
c.118+4111T>C
c.59T>C
7g.66633319T>GCA455937005KCTD7c.189T>G (p.Thr63=)
c.167T>G
c.144+4111T>G (n.144+4111T>G)
c.139+4111T>G
c.118+4111T>G
c.59T>G
7g.66633320A=CA1714174463KCTD7c.190A= (p.Thr64=)
c.168A=
c.144+4112A= (n.144+4112A=)
c.139+4112A=
c.118+4112A=
c.60A=
7g.66633320A>CCA367695526KCTD7c.190A>C (p.Thr64Pro)
c.168A>C
c.144+4112A>C (n.144+4112A>C)
c.139+4112A>C
c.118+4112A>C
c.60A>C
7g.66633320A>GCA241849KCTD7c.190A>G (p.Thr64Ala)
c.168A>G
c.144+4112A>G (n.144+4112A>G)
c.139+4112A>G
c.118+4112A>G
c.60A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633320A>TCA367695527KCTD7c.190A>T (p.Thr64Ser)
c.168A>T
c.144+4112A>T (n.144+4112A>T)
c.139+4112A>T
c.118+4112A>T
c.60A>T
7g.66633321C>ACA367695528KCTD7c.191C>A (p.Thr64Lys)
c.169C>A
c.144+4113C>A (n.144+4113C>A)
c.139+4113C>A
c.118+4113C>A
c.61C>A
7g.66633321C>GCA367695529KCTD7c.191C>G (p.Thr64Arg)
c.169C>G
c.144+4113C>G (n.144+4113C>G)
c.139+4113C>G
c.118+4113C>G
c.61C>G
7g.66633321C>TCA367695530KCTD7c.191C>T (p.Thr64Ile)
c.169C>T
c.144+4113C>T (n.144+4113C>T)
c.139+4113C>T
c.118+4113C>T
c.61C>T
7g.66633322A=CA1714174464KCTD7c.192A= (p.Thr64=)
c.170A=
c.144+4114A= (n.144+4114A=)
c.139+4114A=
c.118+4114A=
c.62A=
7g.66633322A>CCA455937016KCTD7c.192A>C (p.Thr64=)
c.170A>C
c.144+4114A>C (n.144+4114A>C)
c.139+4114A>C
c.118+4114A>C
c.62A>C
7g.66633322A>GCA315677KCTD7c.192A>G (p.Thr64=)
c.170A>G
c.144+4114A>G (n.144+4114A>G)
c.139+4114A>G
c.118+4114A>G
c.62A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633322A>TCA455937019KCTD7c.192A>T (p.Thr64=)
c.170A>T
c.144+4114A>T (n.144+4114A>T)
c.139+4114A>T
c.118+4114A>T
c.62A>T
7g.66633323C>ACA367695532KCTD7c.193C>A (p.Arg65Ser)
c.171C>A
c.144+4115C>A (n.144+4115C>A)
c.139+4115C>A
c.118+4115C>A
c.63C>A
7g.66633323C=CA1714174465KCTD7c.193C= (p.Arg65=)
c.171C=
c.144+4115C= (n.144+4115C=)
c.139+4115C=
c.118+4115C=
c.63C=
7g.66633323C>GCA367695531KCTD7c.193C>G (p.Arg65Gly)
c.171C>G
c.144+4115C>G (n.144+4115C>G)
c.139+4115C>G
c.118+4115C>G
c.63C>G
7g.66633323C>TCA315685KCTD7c.193C>T (p.Arg65Cys)
c.171C>T
c.144+4115C>T (n.144+4115C>T)
c.139+4115C>T
c.118+4115C>T
c.63C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633324G>ACA367695533KCTD7c.194G>A (p.Arg65His)
c.172G>A
c.144+4116G>A (n.144+4116G>A)
c.139+4116G>A
c.118+4116G>A
c.64G>A
 dbSNP gnomAD v2 gnomAD v4
7g.66633324G>CCA367695534KCTD7c.194G>C (p.Arg65Pro)
c.172G>C
c.144+4116G>C (n.144+4116G>C)
c.139+4116G>C
c.118+4116G>C
c.64G>C
7g.66633324G=CA1714174466KCTD7c.194G= (p.Arg65=)
c.172G=
c.144+4116G= (n.144+4116G=)
c.139+4116G=
c.118+4116G=
c.64G=
7g.66633324G>TCA367695535KCTD7c.194G>T (p.Arg65Leu)
c.172G>T
c.144+4116G>T (n.144+4116G>T)
c.139+4116G>T
c.118+4116G>T
c.64G>T
 dbSNP
7g.66633325C>ACA455937023KCTD7c.195C>A (p.Arg65=)
c.173C>A
c.144+4117C>A (n.144+4117C>A)
c.139+4117C>A
c.118+4117C>A
c.65C>A
7g.66633325C=CA1714174467KCTD7c.195C= (p.Arg65=)
c.173C=
c.144+4117C= (n.144+4117C=)
c.139+4117C=
c.118+4117C=
c.65C=
7g.66633325C>GCA455937025KCTD7c.195C>G (p.Arg65=)
c.173C>G
c.144+4117C>G (n.144+4117C>G)
c.139+4117C>G
c.118+4117C>G
c.65C>G
7g.66633325C>TCA4278195KCTD7c.195C>T (p.Arg65=)
c.173C>T
c.144+4117C>T (n.144+4117C>T)
c.139+4117C>T
c.118+4117C>T
c.65C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633326C>ACA367695536KCTD7c.196C>A (p.Leu66Met)
c.174C>A
c.144+4118C>A (n.144+4118C>A)
c.139+4118C>A
c.118+4118C>A
c.66C>A
7g.66633326C>GCA367695537KCTD7c.196C>G (p.Leu66Val)
c.174C>G
c.144+4118C>G (n.144+4118C>G)
c.139+4118C>G
c.118+4118C>G
c.66C>G
7g.66633326C>TCA455937028KCTD7c.196C>T (p.Leu66=)
c.174C>T
c.144+4118C>T (n.144+4118C>T)
c.139+4118C>T
c.118+4118C>T
c.66C>T
 gnomAD v4
7g.66633327T>ACA367695538KCTD7c.197T>A (p.Leu66Gln)
c.175T>A
c.144+4119T>A (n.144+4119T>A)
c.139+4119T>A
c.118+4119T>A
c.67T>A
7g.66633327T>CCA367695539KCTD7c.197T>C (p.Leu66Pro)
c.175T>C
c.144+4119T>C (n.144+4119T>C)
c.139+4119T>C
c.118+4119T>C
c.67T>C
7g.66633327T>GCA367695540KCTD7c.197T>G (p.Leu66Arg)
c.175T>G
c.144+4119T>G (n.144+4119T>G)
c.139+4119T>G
c.118+4119T>G
c.67T>G
7g.66633328G>ACA455937034KCTD7c.198G>A (p.Leu66=)
c.176G>A
c.144+4120G>A (n.144+4120G>A)
c.139+4120G>A
c.118+4120G>A
c.68G>A
7g.66633328G>CCA455937038KCTD7c.198G>C (p.Leu66=)
c.176G>C
c.144+4120G>C (n.144+4120G>C)
c.139+4120G>C
c.118+4120G>C
c.68G>C
 dbSNP
7g.66633328G=CA1714174468KCTD7c.198G= (p.Leu66=)
c.176G=
c.144+4120G= (n.144+4120G=)
c.139+4120G=
c.118+4120G=
c.68G=
7g.66633328G>TCA455937036KCTD7c.198G>T (p.Leu66=)
c.176G>T
c.144+4120G>T (n.144+4120G>T)
c.139+4120G>T
c.118+4120G>T
c.68G>T
7g.66633329T>ACA367695541KCTD7c.199T>A (p.Ser67Thr)
c.177T>A
c.144+4121T>A (n.144+4121T>A)
c.139+4121T>A
c.118+4121T>A
c.69T>A
7g.66633329T>CCA367695542KCTD7c.199T>C (p.Ser67Pro)
c.177T>C
c.144+4121T>C (n.144+4121T>C)
c.139+4121T>C
c.118+4121T>C
c.69T>C
7g.66633329T>GCA367695543KCTD7c.199T>G (p.Ser67Ala)
c.177T>G
c.144+4121T>G (n.144+4121T>G)
c.139+4121T>G
c.118+4121T>G
c.69T>G
7g.66633330C>ACA367695546KCTD7c.200C>A (p.Ser67Tyr)
c.178C>A
c.144+4122C>A (n.144+4122C>A)
c.139+4122C>A
c.118+4122C>A
c.70C>A
 COSMIC
7g.66633330C>GCA367695545KCTD7c.200C>G (p.Ser67Cys)
c.178C>G
c.144+4122C>G (n.144+4122C>G)
c.139+4122C>G
c.118+4122C>G
c.70C>G
7g.66633330C>TCA367695544KCTD7c.200C>T (p.Ser67Phe)
c.178C>T
c.144+4122C>T (n.144+4122C>T)
c.139+4122C>T
c.118+4122C>T
c.70C>T
7g.66633331C>ACA455937044KCTD7c.201C>A (p.Ser67=)
c.179C>A
c.144+4123C>A (n.144+4123C>A)
c.139+4123C>A
c.118+4123C>A
c.71C>A
7g.66633331C>GCA455937047KCTD7c.201C>G (p.Ser67=)
c.179C>G
c.144+4123C>G (n.144+4123C>G)
c.139+4123C>G
c.118+4123C>G
c.71C>G
7g.66633331C>TCA455937049KCTD7c.201C>T (p.Ser67=)
c.179C>T
c.144+4123C>T (n.144+4123C>T)
c.139+4123C>T
c.118+4123C>T
c.71C>T
7g.66633332A>CCA367695547KCTD7c.202A>C (p.Thr68Pro)
c.180A>C
c.144+4124A>C (n.144+4124A>C)
c.139+4124A>C
c.118+4124A>C
c.72A>C
7g.66633332A>GCA367695549KCTD7c.202A>G (p.Thr68Ala)
c.180A>G
c.144+4124A>G (n.144+4124A>G)
c.139+4124A>G
c.118+4124A>G
c.72A>G
7g.66633332A>TCA367695548KCTD7c.202A>T (p.Thr68Ser)
c.180A>T
c.144+4124A>T (n.144+4124A>T)
c.139+4124A>T
c.118+4124A>T
c.72A>T
7g.66633333C>ACA367695550KCTD7c.203C>A (p.Thr68Lys)
c.181C>A
c.144+4125C>A (n.144+4125C>A)
c.139+4125C>A
c.118+4125C>A
c.73C>A
7g.66633333C>GCA367695552KCTD7c.203C>G (p.Thr68Arg)
c.181C>G
c.144+4125C>G (n.144+4125C>G)
c.139+4125C>G
c.118+4125C>G
c.73C>G
7g.66633333C>TCA367695551KCTD7c.203C>T (p.Thr68Ile)
c.181C>T
c.144+4125C>T (n.144+4125C>T)
c.139+4125C>T
c.118+4125C>T
c.73C>T
7g.66633334A=CA1714174469KCTD7c.204A= (p.Thr68=)
c.182A=
c.144+4126A= (n.144+4126A=)
c.139+4126A=
c.118+4126A=
c.74A=
7g.66633334A>CCA4278196KCTD7c.204A>C (p.Thr68=)
c.182A>C
c.144+4126A>C (n.144+4126A>C)
c.139+4126A>C
c.118+4126A>C
c.74A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633334A>GCA455937058KCTD7c.204A>G (p.Thr68=)
c.182A>G
c.144+4126A>G (n.144+4126A>G)
c.139+4126A>G
c.118+4126A>G
c.74A>G
 dbSNP gnomAD v2 gnomAD v4
7g.66633334A>TCA455937060KCTD7c.204A>T (p.Thr68=)
c.182A>T
c.144+4126A>T (n.144+4126A>T)
c.139+4126A>T
c.118+4126A>T
c.74A>T
7g.66633335C>ACA367695553KCTD7c.205C>A (p.Leu69Met)
c.183C>A
c.144+4127C>A (n.144+4127C>A)
c.139+4127C>A
c.118+4127C>A
c.75C>A
7g.66633335C>GCA367695554KCTD7c.205C>G (p.Leu69Val)
c.183C>G
c.144+4127C>G (n.144+4127C>G)
c.139+4127C>G
c.118+4127C>G
c.75C>G
 ClinVar dbSNP
7g.66633335C>TCA455937065KCTD7c.205C>T (p.Leu69=)
c.183C>T
c.144+4127C>T (n.144+4127C>T)
c.139+4127C>T
c.118+4127C>T
c.75C>T
 ClinVar
7g.66633337_66633344delCA2580615896KCTD7c.207_214del (p.Cys71ArgfsTer?)
c.185_192del
c.144+4129_144+4136del (n.144+4129_144+4136del)
c.139+4129_139+4136del
c.118+4129_118+4136del
c.77_84del
 ClinVar
7g.66633336T>ACA367695555KCTD7c.206T>A (p.Leu69Gln)
c.184T>A
c.144+4128T>A (n.144+4128T>A)
c.139+4128T>A
c.118+4128T>A
c.76T>A
7g.66633336T>CCA367695556KCTD7c.206T>C (p.Leu69Pro)
c.184T>C
c.144+4128T>C (n.144+4128T>C)
c.139+4128T>C
c.118+4128T>C
c.76T>C
7g.66633336T>GCA367695557KCTD7c.206T>G (p.Leu69Arg)
c.184T>G
c.144+4128T>G (n.144+4128T>G)
c.139+4128T>G
c.118+4128T>G
c.76T>G
7g.66633337G>ACA455937072KCTD7c.207G>A (p.Leu69=)
c.185G>A
c.144+4129G>A (n.144+4129G>A)
c.139+4129G>A
c.118+4129G>A
c.77G>A
 dbSNP gnomAD v4
7g.66633337G>CCA455937073KCTD7c.207G>C (p.Leu69=)
c.185G>C
c.144+4129G>C (n.144+4129G>C)
c.139+4129G>C
c.118+4129G>C
c.77G>C
7g.66633337G=CA1714174470KCTD7c.207G= (p.Leu69=)
c.185G=
c.144+4129G= (n.144+4129G=)
c.139+4129G=
c.118+4129G=
c.77G=
7g.66633337G>TCA455937071KCTD7c.207G>T (p.Leu69=)
c.185G>T
c.144+4129G>T (n.144+4129G>T)
c.139+4129G>T
c.118+4129G>T
c.77G>T
7g.66633338C>ACA455937076KCTD7c.208C>A (p.Arg70=)
c.186C>A
c.144+4130C>A (n.144+4130C>A)
c.139+4130C>A
c.118+4130C>A
c.78C>A
7g.66633338C=CA1714174471KCTD7c.208C= (p.Arg70=)
c.186C=
c.144+4130C= (n.144+4130C=)
c.139+4130C=
c.118+4130C=
c.78C=
7g.66633338C>GCA367695558KCTD7c.208C>G (p.Arg70Gly)
c.186C>G
c.144+4130C>G (n.144+4130C>G)
c.139+4130C>G
c.118+4130C>G
c.78C>G
 gnomAD v4
7g.66633338C>TCA160219741KCTD7c.208C>T (p.Arg70Trp)
c.186C>T
c.144+4130C>T (n.144+4130C>T)
c.139+4130C>T
c.118+4130C>T
c.78C>T
 ClinVar dbSNP gnomAD v4
7g.66633339G>ACA4278197KCTD7c.209G>A (p.Arg70Gln)
c.187G>A
c.144+4131G>A (n.144+4131G>A)
c.139+4131G>A
c.118+4131G>A
c.79G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.66633339G>CCA367695559KCTD7c.209G>C (p.Arg70Pro)
c.187G>C
c.144+4131G>C (n.144+4131G>C)
c.139+4131G>C
c.118+4131G>C
c.79G>C
7g.66633339G=CA1714174472KCTD7c.209G= (p.Arg70=)
c.187G=
c.144+4131G= (n.144+4131G=)
c.139+4131G=
c.118+4131G=
c.79G=
7g.66633339G>TCA367695560KCTD7c.209G>T (p.Arg70Leu)
c.187G>T
c.144+4131G>T (n.144+4131G>T)
c.139+4131G>T
c.118+4131G>T
c.79G>T
 gnomAD v4
7g.66633340G>ACA455937084KCTD7c.210G>A (p.Arg70=)
c.188G>A
c.144+4132G>A (n.144+4132G>A)
c.139+4132G>A
c.118+4132G>A
c.80G>A
 dbSNP gnomAD v4
7g.66633340G>CCA455937086KCTD7c.210G>C (p.Arg70=)
c.188G>C
c.144+4132G>C (n.144+4132G>C)
c.139+4132G>C
c.118+4132G>C
c.80G>C
7g.66633340G>TCA455937088KCTD7c.210G>T (p.Arg70=)
c.188G>T
c.144+4132G>T (n.144+4132G>T)
c.139+4132G>T
c.118+4132G>T
c.80G>T
7g.66633341T>ACA367695563KCTD7c.211T>A (p.Cys71Ser)
c.189T>A
c.144+4133T>A (n.144+4133T>A)
c.139+4133T>A
c.118+4133T>A
c.81T>A
7g.66633341T>CCA367695562KCTD7c.211T>C (p.Cys71Arg)
c.189T>C
c.144+4133T>C (n.144+4133T>C)
c.139+4133T>C
c.118+4133T>C
c.81T>C
7g.66633341T>GCA367695561KCTD7c.211T>G (p.Cys71Gly)
c.189T>G
c.144+4133T>G (n.144+4133T>G)
c.139+4133T>G
c.118+4133T>G
c.81T>G
7g.66633342G>ACA367695564KCTD7c.212G>A (p.Cys71Tyr)
c.190G>A
c.144+4134G>A (n.144+4134G>A)
c.139+4134G>A
c.118+4134G>A
c.82G>A
7g.66633342G>CCA367695565KCTD7c.212G>C (p.Cys71Ser)
c.190G>C
c.144+4134G>C (n.144+4134G>C)
c.139+4134G>C
c.118+4134G>C
c.82G>C
7g.66633342G>TCA367695566KCTD7c.212G>T (p.Cys71Phe)
c.190G>T
c.144+4134G>T (n.144+4134G>T)
c.139+4134G>T
c.118+4134G>T
c.82G>T
7g.66633343C>ACA4278198KCTD7c.213C>A (p.Cys71Ter)
c.191C>A
c.144+4135C>A (n.144+4135C>A)
c.139+4135C>A
c.118+4135C>A
c.83C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633343C=CA1714174473KCTD7c.213C= (p.Cys71=)
c.191C=
c.144+4135C= (n.144+4135C=)
c.139+4135C=
c.118+4135C=
c.83C=
7g.66633343C>GCA367695567KCTD7c.213C>G (p.Cys71Trp)
c.191C>G
c.144+4135C>G (n.144+4135C>G)
c.139+4135C>G
c.118+4135C>G
c.83C>G
7g.66633343C>TCA455937097KCTD7c.213C>T (p.Cys71=)
c.191C>T
c.144+4135C>T (n.144+4135C>T)
c.139+4135C>T
c.118+4135C>T
c.83C>T
7g.66633344T>ACA367695568KCTD7c.214T>A (p.Tyr72Asn)
c.192T>A
c.144+4136T>A (n.144+4136T>A)
c.139+4136T>A
c.118+4136T>A
c.84T>A
7g.66633344T>CCA367695569KCTD7c.214T>C (p.Tyr72His)
c.192T>C
c.144+4136T>C (n.144+4136T>C)
c.139+4136T>C
c.118+4136T>C
c.84T>C
7g.66633344T>GCA367695570KCTD7c.214T>G (p.Tyr72Asp)
c.192T>G
c.144+4136T>G (n.144+4136T>G)
c.139+4136T>G
c.118+4136T>G
c.84T>G
7g.66633345A=CA1714174474KCTD7c.215A= (p.Tyr72=)
c.193A=
c.144+4137A= (n.144+4137A=)
c.139+4137A=
c.118+4137A=
c.85A=
7g.66633345A>CCA367695571KCTD7c.215A>C (p.Tyr72Ser)
c.193A>C
c.144+4137A>C (n.144+4137A>C)
c.139+4137A>C
c.118+4137A>C
c.85A>C
7g.66633345A>GCA4278199KCTD7c.215A>G (p.Tyr72Cys)
c.193A>G
c.144+4137A>G (n.144+4137A>G)
c.139+4137A>G
c.118+4137A>G
c.85A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633345A>TCA367695572KCTD7c.215A>T (p.Tyr72Phe)
c.193A>T
c.144+4137A>T (n.144+4137A>T)
c.139+4137A>T
c.118+4137A>T
c.85A>T
7g.66633346C>ACA367695574KCTD7c.216C>A (p.Tyr72Ter)
c.194C>A
c.144+4138C>A (n.144+4138C>A)
c.139+4138C>A
c.118+4138C>A
c.86C>A
 COSMIC
7g.66633346C=CA1714174475KCTD7c.216C= (p.Tyr72=)
c.194C=
c.144+4138C= (n.144+4138C=)
c.139+4138C=
c.118+4138C=
c.86C=
7g.66633346C>GCA367695573KCTD7c.216C>G (p.Tyr72Ter)
c.194C>G
c.144+4138C>G (n.144+4138C>G)
c.139+4138C>G
c.118+4138C>G
c.86C>G
7g.66633346C>TCA4278200KCTD7c.216C>T (p.Tyr72=)
c.194C>T
c.144+4138C>T (n.144+4138C>T)
c.139+4138C>T
c.118+4138C>T
c.86C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633347G>ACA4278201KCTD7c.217G>A (p.Glu73Lys)
c.195G>A
c.144+4139G>A (n.144+4139G>A)
c.139+4139G>A
c.118+4139G>A
c.87G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.66633347G>CCA367695575KCTD7c.217G>C (p.Glu73Gln)
c.195G>C
c.144+4139G>C (n.144+4139G>C)
c.139+4139G>C
c.118+4139G>C
c.87G>C
7g.66633347G=CA1714174476KCTD7c.217G= (p.Glu73=)
c.195G=
c.144+4139G= (n.144+4139G=)
c.139+4139G=
c.118+4139G=
c.87G=
7g.66633347G>TCA367695576KCTD7c.217G>T (p.Glu73Ter)
c.195G>T
c.144+4139G>T (n.144+4139G>T)
c.139+4139G>T
c.118+4139G>T
c.87G>T
7g.66633348A>CCA367695577KCTD7c.218A>C (p.Glu73Ala)
c.196A>C
c.144+4140A>C (n.144+4140A>C)
c.139+4140A>C
c.118+4140A>C
c.88A>C
7g.66633348A>GCA367695578KCTD7c.218A>G (p.Glu73Gly)
c.196A>G
c.144+4140A>G (n.144+4140A>G)
c.139+4140A>G
c.118+4140A>G
c.88A>G
7g.66633348A>TCA367695579KCTD7c.218A>T (p.Glu73Val)
c.196A>T
c.144+4140A>T (n.144+4140A>T)
c.139+4140A>T
c.118+4140A>T
c.88A>T
7g.66633349A>CCA367695580KCTD7c.219A>C (p.Glu73Asp)
c.197A>C
c.144+4141A>C (n.144+4141A>C)
c.139+4141A>C
c.118+4141A>C
c.89A>C
7g.66633349A>GCA455937115KCTD7c.219A>G (p.Glu73=)
c.197A>G
c.144+4141A>G (n.144+4141A>G)
c.139+4141A>G
c.118+4141A>G
c.89A>G
7g.66633349A>TCA367695581KCTD7c.219A>T (p.Glu73Asp)
c.197A>T
c.144+4141A>T (n.144+4141A>T)
c.139+4141A>T
c.118+4141A>T
c.89A>T
7g.66633350G>ACA367695582KCTD7c.220G>A (p.Asp74Asn)
c.198G>A
c.144+4142G>A (n.144+4142G>A)
c.139+4142G>A
c.118+4142G>A
c.90G>A
7g.66633350G>CCA367695583KCTD7c.220G>C (p.Asp74His)
c.198G>C
c.144+4142G>C (n.144+4142G>C)
c.139+4142G>C
c.118+4142G>C
c.90G>C
7g.66633350G>TCA367695584KCTD7c.220G>T (p.Asp74Tyr)
c.198G>T
c.144+4142G>T (n.144+4142G>T)
c.139+4142G>T
c.118+4142G>T
c.90G>T
7g.66633351A=CA1714174477KCTD7c.221A= (p.Asp74=)
c.199A=
c.144+4143A= (n.144+4143A=)
c.139+4143A=
c.118+4143A=
c.91A=
7g.66633351A>CCA367695585KCTD7c.221A>C (p.Asp74Ala)
c.199A>C
c.144+4143A>C (n.144+4143A>C)
c.139+4143A>C
c.118+4143A>C
c.91A>C
7g.66633351A>GCA4278202KCTD7c.221A>G (p.Asp74Gly)
c.199A>G
c.144+4143A>G (n.144+4143A>G)
c.139+4143A>G
c.118+4143A>G
c.91A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633351A>TCA367695586KCTD7c.221A>T (p.Asp74Val)
c.199A>T
c.144+4143A>T (n.144+4143A>T)
c.139+4143A>T
c.118+4143A>T
c.91A>T
7g.66633352C>ACA367695587KCTD7c.222C>A (p.Asp74Glu)
c.200C>A
c.144+4144C>A (n.144+4144C>A)
c.139+4144C>A
c.118+4144C>A
c.92C>A
7g.66633352C>GCA367695588KCTD7c.222C>G (p.Asp74Glu)
c.200C>G
c.144+4144C>G (n.144+4144C>G)
c.139+4144C>G
c.118+4144C>G
c.92C>G
7g.66633352C>TCA455937127KCTD7c.222C>T (p.Asp74=)
c.200C>T
c.144+4144C>T (n.144+4144C>T)
c.139+4144C>T
c.118+4144C>T
c.92C>T
7g.66633353A>CCA367695589KCTD7c.223A>C (p.Thr75Pro)
c.201A>C
c.144+4145A>C (n.144+4145A>C)
c.139+4145A>C
c.118+4145A>C
c.93A>C
7g.66633353A>GCA367695590KCTD7c.223A>G (p.Thr75Ala)
c.201A>G
c.144+4145A>G (n.144+4145A>G)
c.139+4145A>G
c.118+4145A>G
c.93A>G
7g.66633353A>TCA367695591KCTD7c.223A>T (p.Thr75Ser)
c.201A>T
c.144+4145A>T (n.144+4145A>T)
c.139+4145A>T
c.118+4145A>T
c.93A>T
7g.66633354C>ACA367695592KCTD7c.224C>A (p.Thr75Asn)
c.202C>A
c.144+4146C>A (n.144+4146C>A)
c.139+4146C>A
c.118+4146C>A
c.94C>A
 gnomAD v4
7g.66633354C>GCA367695593KCTD7c.224C>G (p.Thr75Ser)
c.202C>G
c.144+4146C>G (n.144+4146C>G)
c.139+4146C>G
c.118+4146C>G
c.94C>G
7g.66633354C>TCA367695594KCTD7c.224C>T (p.Thr75Ile)
c.202C>T
c.144+4146C>T (n.144+4146C>T)
c.139+4146C>T
c.118+4146C>T
c.94C>T
 ClinVar
7g.66633355C>ACA4278204KCTD7c.225C>A (p.Thr75=)
c.203C>A
c.144+4147C>A (n.144+4147C>A)
c.139+4147C>A
c.118+4147C>A
c.95C>A
 dbSNP ExAC gnomAD v2
7g.66633355C=CA1714174478KCTD7c.225C= (p.Thr75=)
c.203C=
c.144+4147C= (n.144+4147C=)
c.139+4147C=
c.118+4147C=
c.95C=
7g.66633355C>GCA4278203KCTD7c.225C>G (p.Thr75=)
c.203C>G
c.144+4147C>G (n.144+4147C>G)
c.139+4147C>G
c.118+4147C>G
c.95C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633355C>TCA455937133KCTD7c.225C>T (p.Thr75=)
c.203C>T
c.144+4147C>T (n.144+4147C>T)
c.139+4147C>T
c.118+4147C>T
c.95C>T
7g.66633356A=CA1714174479KCTD7c.226A= (p.Met76=)
c.204A=
c.144+4148A= (n.144+4148A=)
c.139+4148A=
c.118+4148A=
c.96A=
7g.66633356A>CCA367695595KCTD7c.226A>C (p.Met76Leu)
c.204A>C
c.144+4148A>C (n.144+4148A>C)
c.139+4148A>C
c.118+4148A>C
c.96A>C
7g.66633356A>GCA4278205KCTD7c.226A>G (p.Met76Val)
c.204A>G
c.144+4148A>G (n.144+4148A>G)
c.139+4148A>G
c.118+4148A>G
c.96A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633356A>TCA367695596KCTD7c.226A>T (p.Met76Leu)
c.204A>T
c.144+4148A>T (n.144+4148A>T)
c.139+4148A>T
c.118+4148A>T
c.96A>T
 gnomAD v4
7g.66633357T>ACA367695598KCTD7c.227T>A (p.Met76Lys)
c.205T>A
c.144+4149T>A (n.144+4149T>A)
c.139+4149T>A
c.118+4149T>A
c.97T>A
7g.66633357T>CCA4278206KCTD7c.227T>C (p.Met76Thr)
c.205T>C
c.144+4149T>C (n.144+4149T>C)
c.139+4149T>C
c.118+4149T>C
c.97T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633357T>GCA367695597KCTD7c.227T>G (p.Met76Arg)
c.205T>G
c.144+4149T>G (n.144+4149T>G)
c.139+4149T>G
c.118+4149T>G
c.97T>G
7g.66633357T=CA1714174480KCTD7c.227T= (p.Met76=)
c.205T=
c.144+4149T= (n.144+4149T=)
c.139+4149T=
c.118+4149T=
c.97T=
7g.66633358G>ACA367695599KCTD7c.228G>A (p.Met76Ile)
c.206G>A
c.144+4150G>A (n.144+4150G>A)
c.139+4150G>A
c.118+4150G>A
c.98G>A
7g.66633358G>CCA367695601KCTD7c.228G>C (p.Met76Ile)
c.206G>C
c.144+4150G>C (n.144+4150G>C)
c.139+4150G>C
c.118+4150G>C
c.98G>C
7g.66633358G>TCA367695600KCTD7c.228G>T (p.Met76Ile)
c.206G>T
c.144+4150G>T (n.144+4150G>T)
c.139+4150G>T
c.118+4150G>T
c.98G>T
7g.66633359T>ACA367695602KCTD7c.229T>A (p.Leu77Met)
c.207T>A
c.144+4151T>A (n.144+4151T>A)
c.139+4151T>A
c.118+4151T>A
c.99T>A
7g.66633359T>CCA455937146KCTD7c.229T>C (p.Leu77=)
c.207T>C
c.144+4151T>C (n.144+4151T>C)
c.139+4151T>C
c.118+4151T>C
c.99T>C
7g.66633359T>GCA367695603KCTD7c.229T>G (p.Leu77Val)
c.207T>G
c.144+4151T>G (n.144+4151T>G)
c.139+4151T>G
c.118+4151T>G
c.99T>G
7g.66633360T>ACA367695604KCTD7c.230T>A (p.Leu77Ter)
c.208T>A
c.144+4152T>A (n.144+4152T>A)
c.139+4152T>A
c.118+4152T>A
c.100T>A
7g.66633360T>CCA367695605KCTD7c.230T>C (p.Leu77Ser)
c.208T>C
c.144+4152T>C (n.144+4152T>C)
c.139+4152T>C
c.118+4152T>C
c.100T>C
7g.66633360T>GCA367695606KCTD7c.230T>G (p.Leu77Trp)
c.208T>G
c.144+4152T>G (n.144+4152T>G)
c.139+4152T>G
c.118+4152T>G
c.100T>G
7g.66633361G>ACA455937157KCTD7c.231G>A (p.Leu77=)
c.209G>A
c.144+4153G>A (n.144+4153G>A)
c.139+4153G>A
c.118+4153G>A
c.101G>A
7g.66633361G>CCA367695607KCTD7c.231G>C (p.Leu77Phe)
c.209G>C
c.144+4153G>C (n.144+4153G>C)
c.139+4153G>C
c.118+4153G>C
c.101G>C
7g.66633361G=CA1714174481KCTD7c.231G= (p.Leu77=)
c.209G=
c.144+4153G= (n.144+4153G=)
c.139+4153G=
c.118+4153G=
c.101G=
7g.66633361G>TCA367695608KCTD7c.231G>T (p.Leu77Phe)
c.209G>T
c.144+4153G>T (n.144+4153G>T)
c.139+4153G>T
c.118+4153G>T
c.101G>T
 ClinVar dbSNP
7g.66633362G>ACA367695609KCTD7c.232G>A (p.Ala78Thr)
c.210G>A
c.144+4154G>A (n.144+4154G>A)
c.139+4154G>A
c.118+4154G>A
c.102G>A
 gnomAD v4
7g.66633362G>CCA367695610KCTD7c.232G>C (p.Ala78Pro)
c.210G>C
c.144+4154G>C (n.144+4154G>C)
c.139+4154G>C
c.118+4154G>C
c.102G>C
7g.66633362G>TCA367695611KCTD7c.232G>T (p.Ala78Ser)
c.210G>T
c.144+4154G>T (n.144+4154G>T)
c.139+4154G>T
c.118+4154G>T
c.102G>T
7g.66633363C>ACA367695614KCTD7c.233C>A (p.Ala78Glu)
c.211C>A
c.144+4155C>A (n.144+4155C>A)
c.139+4155C>A
c.118+4155C>A
c.103C>A
7g.66633363C>GCA367695613KCTD7c.233C>G (p.Ala78Gly)
c.211C>G
c.144+4155C>G (n.144+4155C>G)
c.139+4155C>G
c.118+4155C>G
c.103C>G
7g.66633363C>TCA367695612KCTD7c.233C>T (p.Ala78Val)
c.211C>T
c.144+4155C>T (n.144+4155C>T)
c.139+4155C>T
c.118+4155C>T
c.103C>T
7g.66633363_66633371delCA2683113720KCTD7c.233_241del (p.Ala78_Phe81delinsVal)
c.211_219del
c.144+4155_144+4163del (n.144+4155_144+4163del)
c.139+4155_139+4163del
c.118+4155_118+4163del
c.103_111del
 gnomAD v4
7g.66633364A>CCA455937173KCTD7c.234A>C (p.Ala78=)
c.212A>C
c.144+4156A>C (n.144+4156A>C)
c.139+4156A>C
c.118+4156A>C
c.104A>C
7g.66633364A>GCA455937175KCTD7c.234A>G (p.Ala78=)
c.212A>G
c.144+4156A>G (n.144+4156A>G)
c.139+4156A>G
c.118+4156A>G
c.104A>G
7g.66633364A>TCA455937177KCTD7c.234A>T (p.Ala78=)
c.212A>T
c.144+4156A>T (n.144+4156A>T)
c.139+4156A>T
c.118+4156A>T
c.104A>T
7g.66633365G>ACA367695615KCTD7c.235G>A (p.Ala79Thr)
c.213G>A
c.144+4157G>A (n.144+4157G>A)
c.139+4157G>A
c.118+4157G>A
c.105G>A
 ClinVar
7g.66633365G>CCA367695616KCTD7c.235G>C (p.Ala79Pro)
c.213G>C
c.144+4157G>C (n.144+4157G>C)
c.139+4157G>C
c.118+4157G>C
c.105G>C
7g.66633365G>TCA367695617KCTD7c.235G>T (p.Ala79Ser)
c.213G>T
c.144+4157G>T (n.144+4157G>T)
c.139+4157G>T
c.118+4157G>T
c.105G>T
7g.66633366C>ACA367695618KCTD7c.236C>A (p.Ala79Asp)
c.214C>A
c.144+4158C>A (n.144+4158C>A)
c.139+4158C>A
c.118+4158C>A
c.106C>A
7g.66633366C>GCA367695619KCTD7c.236C>G (p.Ala79Gly)
c.214C>G
c.144+4158C>G (n.144+4158C>G)
c.139+4158C>G
c.118+4158C>G
c.106C>G
7g.66633366C>TCA367695620KCTD7c.236C>T (p.Ala79Val)
c.214C>T
c.144+4158C>T (n.144+4158C>T)
c.139+4158C>T
c.118+4158C>T
c.106C>T
7g.66633367C>ACA455937190KCTD7c.237C>A (p.Ala79=)
c.215C>A
c.144+4159C>A (n.144+4159C>A)
c.139+4159C>A
c.118+4159C>A
c.107C>A
7g.66633367C>GCA455937193KCTD7c.237C>G (p.Ala79=)
c.215C>G
c.144+4159C>G (n.144+4159C>G)
c.139+4159C>G
c.118+4159C>G
c.107C>G
7g.66633367C>TCA455937195KCTD7c.237C>T (p.Ala79=)
c.215C>T
c.144+4159C>T (n.144+4159C>T)
c.139+4159C>T
c.118+4159C>T
c.107C>T
7g.66633368A=CA1714174482KCTD7c.238A= (p.Met80=)
c.216A=
c.144+4160A= (n.144+4160A=)
c.139+4160A=
c.118+4160A=
c.108A=
7g.66633368A>CCA367695621KCTD7c.238A>C (p.Met80Leu)
c.216A>C
c.144+4160A>C (n.144+4160A>C)
c.139+4160A>C
c.118+4160A>C
c.108A>C
7g.66633368A>GCA367695622KCTD7c.238A>G (p.Met80Val)
c.216A>G
c.144+4160A>G (n.144+4160A>G)
c.139+4160A>G
c.118+4160A>G
c.108A>G
 ClinVar dbSNP
7g.66633368A>TCA367695623KCTD7c.238A>T (p.Met80Leu)
c.216A>T
c.144+4160A>T (n.144+4160A>T)
c.139+4160A>T
c.118+4160A>T
c.108A>T
7g.66633369T>ACA367695624KCTD7c.239T>A (p.Met80Lys)
c.217T>A
c.144+4161T>A (n.144+4161T>A)
c.139+4161T>A
c.118+4161T>A
c.109T>A
7g.66633369T>CCA160219742KCTD7c.239T>C (p.Met80Thr)
c.217T>C
c.144+4161T>C (n.144+4161T>C)
c.139+4161T>C
c.118+4161T>C
c.109T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.66633369T>GCA367695625KCTD7c.239T>G (p.Met80Arg)
c.217T>G
c.144+4161T>G (n.144+4161T>G)
c.139+4161T>G
c.118+4161T>G
c.109T>G
7g.66633369T=CA1714174483KCTD7c.239T= (p.Met80=)
c.217T=
c.144+4161T= (n.144+4161T=)
c.139+4161T=
c.118+4161T=
c.109T=
7g.66633370G>ACA4278207KCTD7c.240G>A (p.Met80Ile)
c.218G>A
c.144+4162G>A (n.144+4162G>A)
c.139+4162G>A
c.118+4162G>A
c.110G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633370G>CCA367695627KCTD7c.240G>C (p.Met80Ile)
c.218G>C
c.144+4162G>C (n.144+4162G>C)
c.139+4162G>C
c.118+4162G>C
c.110G>C
7g.66633370G=CA1714174484KCTD7c.240G= (p.Met80=)
c.218G=
c.144+4162G= (n.144+4162G=)
c.139+4162G=
c.118+4162G=
c.110G=
7g.66633370G>TCA367695626KCTD7c.240G>T (p.Met80Ile)
c.218G>T
c.144+4162G>T (n.144+4162G>T)
c.139+4162G>T
c.118+4162G>T
c.110G>T
 COSMIC
7g.66633371T>ACA367695628KCTD7c.241T>A (p.Phe81Ile)
c.219T>A
c.144+4163T>A (n.144+4163T>A)
c.139+4163T>A
c.118+4163T>A
c.111T>A
7g.66633371T>CCA367695629KCTD7c.241T>C (p.Phe81Leu)
c.219T>C
c.144+4163T>C (n.144+4163T>C)
c.139+4163T>C
c.118+4163T>C
c.111T>C
7g.66633371T>GCA367695630KCTD7c.241T>G (p.Phe81Val)
c.219T>G
c.144+4163T>G (n.144+4163T>G)
c.139+4163T>G
c.118+4163T>G
c.111T>G
7g.66633372T>ACA367695631KCTD7c.242T>A (p.Phe81Tyr)
c.220T>A
c.144+4164T>A (n.144+4164T>A)
c.139+4164T>A
c.118+4164T>A
c.112T>A
7g.66633372T>CCA367695632KCTD7c.242T>C (p.Phe81Ser)
c.220T>C
c.144+4164T>C (n.144+4164T>C)
c.139+4164T>C
c.118+4164T>C
c.112T>C
7g.66633372T>GCA367695633KCTD7c.242T>G (p.Phe81Cys)
c.220T>G
c.144+4164T>G (n.144+4164T>G)
c.139+4164T>G
c.118+4164T>G
c.112T>G
7g.66633373C>ACA367695634KCTD7c.243C>A (p.Phe81Leu)
c.221C>A
c.144+4165C>A (n.144+4165C>A)
c.139+4165C>A
c.118+4165C>A
c.113C>A
7g.66633373C=CA1714174485KCTD7c.243C= (p.Phe81=)
c.221C=
c.144+4165C= (n.144+4165C=)
c.139+4165C=
c.118+4165C=
c.113C=
7g.66633373C>GCA367695635KCTD7c.243C>G (p.Phe81Leu)
c.221C>G
c.144+4165C>G (n.144+4165C>G)
c.139+4165C>G
c.118+4165C>G
c.113C>G
7g.66633373C>TCA455937213KCTD7c.243C>T (p.Phe81=)
c.221C>T
c.144+4165C>T (n.144+4165C>T)
c.139+4165C>T
c.118+4165C>T
c.113C>T
 dbSNP gnomAD v2 gnomAD v4
7g.66633374A=CA1714174486KCTD7c.244A= (p.Ser82=)
c.222A=
c.144+4166A= (n.144+4166A=)
c.139+4166A=
c.118+4166A=
c.114A=
7g.66633374A>CCA367695636KCTD7c.244A>C (p.Ser82Arg)
c.222A>C
c.144+4166A>C (n.144+4166A>C)
c.139+4166A>C
c.118+4166A>C
c.114A>C
7g.66633374A>GCA4278208KCTD7c.244A>G (p.Ser82Gly)
c.222A>G
c.144+4166A>G (n.144+4166A>G)
c.139+4166A>G
c.118+4166A>G
c.114A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633374A>TCA367695637KCTD7c.244A>T (p.Ser82Cys)
c.222A>T
c.144+4166A>T (n.144+4166A>T)
c.139+4166A>T
c.118+4166A>T
c.114A>T
7g.66633375G>ACA367695638KCTD7c.245G>A (p.Ser82Asn)
c.223G>A
c.144+4167G>A (n.144+4167G>A)
c.139+4167G>A
c.118+4167G>A
c.115G>A
7g.66633375G>CCA367695639KCTD7c.245G>C (p.Ser82Thr)
c.223G>C
c.144+4167G>C (n.144+4167G>C)
c.139+4167G>C
c.118+4167G>C
c.115G>C
7g.66633375G>TCA367695640KCTD7c.245G>T (p.Ser82Ile)
c.223G>T
c.144+4167G>T (n.144+4167G>T)
c.139+4167G>T
c.118+4167G>T
c.115G>T
 gnomAD v4
7g.66633376T>ACA367695641KCTD7c.246T>A (p.Ser82Arg)
c.224T>A
c.144+4168T>A (n.144+4168T>A)
c.139+4168T>A
c.118+4168T>A
c.116T>A
7g.66633376T>CCA455937222KCTD7c.246T>C (p.Ser82=)
c.224T>C
c.144+4168T>C (n.144+4168T>C)
c.139+4168T>C
c.118+4168T>C
c.116T>C
 gnomAD v3 gnomAD v4
7g.66633376T>GCA367695642KCTD7c.246T>G (p.Ser82Arg)
c.224T>G
c.144+4168T>G (n.144+4168T>G)
c.139+4168T>G
c.118+4168T>G
c.116T>G
7g.66633377G>ACA367695643KCTD7c.247G>A (p.Gly83Arg)
c.225G>A
c.144+4169G>A (n.144+4169G>A)
c.139+4169G>A
c.118+4169G>A
c.117G>A
7g.66633377G>CCA367695644KCTD7c.247G>C (p.Gly83Arg)
c.225G>C
c.144+4169G>C (n.144+4169G>C)
c.139+4169G>C
c.118+4169G>C
c.117G>C
7g.66633377G>TCA367695645KCTD7c.247G>T (p.Gly83Trp)
c.225G>T
c.144+4169G>T (n.144+4169G>T)
c.139+4169G>T
c.118+4169G>T
c.117G>T
7g.66633378G>ACA367695646KCTD7c.248G>A (p.Gly83Glu)
c.226G>A
c.144+4170G>A (n.144+4170G>A)
c.139+4170G>A
c.118+4170G>A
c.118G>A
7g.66633378G>CCA367695647KCTD7c.248G>C (p.Gly83Ala)
c.226G>C
c.144+4170G>C (n.144+4170G>C)
c.139+4170G>C
c.118+4170G>C
c.118G>C
7g.66633378G>TCA367695648KCTD7c.248G>T (p.Gly83Val)
c.226G>T
c.144+4170G>T (n.144+4170G>T)
c.139+4170G>T
c.118+4170G>T
c.118G>T
7g.66633379G>ACA455937233KCTD7c.249G>A (p.Gly83=)
c.227G>A
c.144+4171G>A (n.144+4171G>A)
c.139+4171G>A
c.118+4171G>A
c.119G>A
 dbSNP gnomAD v3 gnomAD v4
7g.66633379G>CCA455937234KCTD7c.249G>C (p.Gly83=)
c.227G>C
c.144+4171G>C (n.144+4171G>C)
c.139+4171G>C
c.118+4171G>C
c.119G>C
7g.66633379G=CA1714174487KCTD7c.249G= (p.Gly83=)
c.227G=
c.144+4171G= (n.144+4171G=)
c.139+4171G=
c.118+4171G=
c.119G=
7g.66633379G>TCA455937236KCTD7c.249G>T (p.Gly83=)
c.227G>T
c.144+4171G>T (n.144+4171G>T)
c.139+4171G>T
c.118+4171G>T
c.119G>T
 gnomAD v4 COSMIC
7g.66633380_66633381delCA2683113721KCTD7c.250_251del (p.Arg84AlafsTer?)
c.228_229del
c.144+4172_144+4173del (n.144+4172_144+4173del)
c.139+4172_139+4173del
c.118+4172_118+4173del
c.120_121del
 gnomAD v4
7g.66633380C>ACA455937240KCTD7c.250C>A (p.Arg84=)
c.228C>A
c.144+4172C>A (n.144+4172C>A)
c.139+4172C>A
c.118+4172C>A
c.120C>A
7g.66633380C=CA1714174488KCTD7c.250C= (p.Arg84=)
c.228C=
c.144+4172C= (n.144+4172C=)
c.139+4172C=
c.118+4172C=
c.120C=
7g.66633380C>GCA367695649KCTD7c.250C>G (p.Arg84Gly)
c.228C>G
c.144+4172C>G (n.144+4172C>G)
c.139+4172C>G
c.118+4172C>G
c.120C>G
7g.66633380C>TCA4278209KCTD7c.250C>T (p.Arg84Trp)
c.228C>T
c.144+4172C>T (n.144+4172C>T)
c.139+4172C>T
c.118+4172C>T
c.120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633381G>ACA4278210KCTD7c.251G>A (p.Arg84Gln)
c.229G>A
c.144+4173G>A (n.144+4173G>A)
c.139+4173G>A
c.118+4173G>A
c.121G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633381G>CCA367695650KCTD7c.251G>C (p.Arg84Pro)
c.229G>C
c.144+4173G>C (n.144+4173G>C)
c.139+4173G>C
c.118+4173G>C
c.121G>C
7g.66633381G=CA1714174489KCTD7c.251G= (p.Arg84=)
c.229G=
c.144+4173G= (n.144+4173G=)
c.139+4173G=
c.118+4173G=
c.121G=
7g.66633381G>TCA367695651KCTD7c.251G>T (p.Arg84Leu)
c.229G>T
c.144+4173G>T (n.144+4173G>T)
c.139+4173G>T
c.118+4173G>T
c.121G>T
 COSMIC
7g.66633382G>ACA455937246KCTD7c.252G>A (p.Arg84=)
c.230G>A
c.144+4174G>A (n.144+4174G>A)
c.139+4174G>A
c.118+4174G>A
c.122G>A
 ClinVar
7g.66633382G>CCA455937247KCTD7c.252G>C (p.Arg84=)
c.230G>C
c.144+4174G>C (n.144+4174G>C)
c.139+4174G>C
c.118+4174G>C
c.122G>C
 gnomAD v4
7g.66633382G>TCA455937249KCTD7c.252G>T (p.Arg84=)
c.230G>T
c.144+4174G>T (n.144+4174G>T)
c.139+4174G>T
c.118+4174G>T
c.122G>T
7g.66633383C>ACA367695652KCTD7c.253C>A (p.His85Asn)
c.231C>A
c.144+4175C>A (n.144+4175C>A)
c.139+4175C>A
c.118+4175C>A
c.123C>A
7g.66633383C>GCA367695653KCTD7c.253C>G (p.His85Asp)
c.231C>G
c.144+4175C>G (n.144+4175C>G)
c.139+4175C>G
c.118+4175C>G
c.123C>G
7g.66633383C>TCA367695654KCTD7c.253C>T (p.His85Tyr)
c.231C>T
c.144+4175C>T (n.144+4175C>T)
c.139+4175C>T
c.118+4175C>T
c.123C>T
7g.66633384A=CA1714174490KCTD7c.254A= (p.His85=)
c.232A=
c.144+4176A= (n.144+4176A=)
c.139+4176A=
c.118+4176A=
c.124A=
7g.66633384A>CCA367695656KCTD7c.254A>C (p.His85Pro)
c.232A>C
c.144+4176A>C (n.144+4176A>C)
c.139+4176A>C
c.118+4176A>C
c.124A>C
7g.66633384A>GCA367695657KCTD7c.254A>G (p.His85Arg)
c.232A>G
c.144+4176A>G (n.144+4176A>G)
c.139+4176A>G
c.118+4176A>G
c.124A>G
 dbSNP gnomAD v4
7g.66633384A>TCA367695655KCTD7c.254A>T (p.His85Leu)
c.232A>T
c.144+4176A>T (n.144+4176A>T)
c.139+4176A>T
c.118+4176A>T
c.124A>T
 gnomAD v4
7g.66633385C>ACA367695659KCTD7c.255C>A (p.His85Gln)
c.233C>A
c.144+4177C>A (n.144+4177C>A)
c.139+4177C>A
c.118+4177C>A
c.125C>A
7g.66633385C=CA1714174491KCTD7c.255C= (p.His85=)
c.233C=
c.144+4177C= (n.144+4177C=)
c.139+4177C=
c.118+4177C=
c.125C=
7g.66633385C>GCA367695658KCTD7c.255C>G (p.His85Gln)
c.233C>G
c.144+4177C>G (n.144+4177C>G)
c.139+4177C>G
c.118+4177C>G
c.125C>G
7g.66633385C>TCA4278211KCTD7c.255C>T (p.His85=)
c.233C>T
c.144+4177C>T (n.144+4177C>T)
c.139+4177C>T
c.118+4177C>T
c.125C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.66633386T>ACA367695660KCTD7c.256T>A (p.Tyr86Asn)
c.234T>A
c.144+4178T>A (n.144+4178T>A)
c.139+4178T>A
c.118+4178T>A
c.126T>A
7g.66633386T>CCA315687KCTD7c.256T>C (p.Tyr86His)
c.234T>C
c.144+4178T>C (n.144+4178T>C)
c.139+4178T>C
c.118+4178T>C
c.126T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633386T>GCA160219743KCTD7c.256T>G (p.Tyr86Asp)
c.234T>G
c.144+4178T>G (n.144+4178T>G)
c.139+4178T>G
c.118+4178T>G
c.126T>G
 dbSNP gnomAD v3 gnomAD v4
7g.66633386T=CA1714174492KCTD7c.256T= (p.Tyr86=)
c.234T=
c.144+4178T= (n.144+4178T=)
c.139+4178T=
c.118+4178T=
c.126T=
7g.66633387A=CA1714174493KCTD7c.257A= (p.Tyr86=)
c.235A=
c.144+4179A= (n.144+4179A=)
c.139+4179A=
c.118+4179A=
c.127A=
7g.66633387A>CCA367695661KCTD7c.257A>C (p.Tyr86Ser)
c.235A>C
c.144+4179A>C (n.144+4179A>C)
c.139+4179A>C
c.118+4179A>C
c.127A>C
7g.66633387A>GCA4278212KCTD7c.257A>G (p.Tyr86Cys)
c.235A>G
c.144+4179A>G (n.144+4179A>G)
c.139+4179A>G
c.118+4179A>G
c.127A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.66633387A>TCA367695662KCTD7c.257A>T (p.Tyr86Phe)
c.235A>T
c.144+4179A>T (n.144+4179A>T)
c.139+4179A>T
c.118+4179A>T
c.127A>T
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

Number of alleles fetched