Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72230022_72230122delCA2614932014INPPL1c.939+3_941del
c.213+3_215del
c.123+3_125del
c.741+3_743del
c.1005+3_1007del
c.975+3_977del
 gnomAD v4
11g.72230081C=CA1981897908INPPL1c.940-40C= (n.940-40C=)
c.214-40C= (n.214-40C=)
c.124-40C= (n.124-40C=)
c.742-40C= (n.742-40C=)
c.1006-40C= (n.1006-40C=)
c.976-40C= (n.976-40C=)
11g.72230081C>TCA1981897909INPPL1c.940-40C>T (n.940-40C>T)
c.214-40C>T (n.214-40C>T)
c.124-40C>T (n.124-40C>T)
c.742-40C>T (n.742-40C>T)
c.1006-40C>T (n.1006-40C>T)
c.976-40C>T (n.976-40C>T)
 dbSNP
11g.72230082T>CCA600243209INPPL1c.940-39T>C (n.940-39T>C)
c.214-39T>C (n.214-39T>C)
c.124-39T>C (n.124-39T>C)
c.742-39T>C (n.742-39T>C)
c.1006-39T>C (n.1006-39T>C)
c.976-39T>C (n.976-39T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.72230082T=CA1981897910INPPL1c.940-39T= (n.940-39T=)
c.214-39T= (n.214-39T=)
c.124-39T= (n.124-39T=)
c.742-39T= (n.742-39T=)
c.1006-39T= (n.1006-39T=)
c.976-39T= (n.976-39T=)
11g.72230083C=CA1981897911INPPL1c.940-38C= (n.940-38C=)
c.214-38C= (n.214-38C=)
c.124-38C= (n.124-38C=)
c.742-38C= (n.742-38C=)
c.1006-38C= (n.1006-38C=)
c.976-38C= (n.976-38C=)
11g.72230083C>TCA600243210INPPL1c.940-38C>T (n.940-38C>T)
c.214-38C>T (n.214-38C>T)
c.124-38C>T (n.124-38C>T)
c.742-38C>T (n.742-38C>T)
c.1006-38C>T (n.1006-38C>T)
c.976-38C>T (n.976-38C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.72230084C=CA1981897912INPPL1c.940-37C= (n.940-37C=)
c.214-37C= (n.214-37C=)
c.124-37C= (n.124-37C=)
c.742-37C= (n.742-37C=)
c.1006-37C= (n.1006-37C=)
c.976-37C= (n.976-37C=)
11g.72230084C>GCA224375864INPPL1c.940-37C>G (n.940-37C>G)
c.214-37C>G (n.214-37C>G)
c.124-37C>G (n.124-37C>G)
c.742-37C>G (n.742-37C>G)
c.1006-37C>G (n.1006-37C>G)
c.976-37C>G (n.976-37C>G)
 dbSNP gnomAD v3 gnomAD v4
11g.72230084C>TCA2614932035INPPL1c.940-37C>T (n.940-37C>T)
c.214-37C>T (n.214-37C>T)
c.124-37C>T (n.124-37C>T)
c.742-37C>T (n.742-37C>T)
c.1006-37C>T (n.1006-37C>T)
c.976-37C>T (n.976-37C>T)
 gnomAD v4
11g.72230085A>TCA2614932036INPPL1c.940-36A>T (n.940-36A>T)
c.214-36A>T (n.214-36A>T)
c.124-36A>T (n.124-36A>T)
c.742-36A>T (n.742-36A>T)
c.1006-36A>T (n.1006-36A>T)
c.976-36A>T (n.976-36A>T)
 gnomAD v4
11g.72230086A=CA1981897913INPPL1c.940-35A= (n.940-35A=)
c.214-35A= (n.214-35A=)
c.124-35A= (n.124-35A=)
c.742-35A= (n.742-35A=)
c.1006-35A= (n.1006-35A=)
c.976-35A= (n.976-35A=)
11g.72230086A>GCA6169849INPPL1c.940-35A>G (n.940-35A>G)
c.214-35A>G (n.214-35A>G)
c.124-35A>G (n.124-35A>G)
c.742-35A>G (n.742-35A>G)
c.1006-35A>G (n.1006-35A>G)
c.976-35A>G (n.976-35A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230087G>ACA1981897915INPPL1c.940-34G>A (n.940-34G>A)
c.214-34G>A (n.214-34G>A)
c.124-34G>A (n.124-34G>A)
c.742-34G>A (n.742-34G>A)
c.1006-34G>A (n.1006-34G>A)
c.976-34G>A (n.976-34G>A)
 dbSNP gnomAD v4
11g.72230087G=CA1981897914INPPL1c.940-34G= (n.940-34G=)
c.214-34G= (n.214-34G=)
c.124-34G= (n.124-34G=)
c.742-34G= (n.742-34G=)
c.1006-34G= (n.1006-34G=)
c.976-34G= (n.976-34G=)
11g.72230087G>TCA2614932037INPPL1c.940-34G>T (n.940-34G>T)
c.214-34G>T (n.214-34G>T)
c.124-34G>T (n.124-34G>T)
c.742-34G>T (n.742-34G>T)
c.1006-34G>T (n.1006-34G>T)
c.976-34G>T (n.976-34G>T)
 gnomAD v4
11g.72230088G>ACA6169850INPPL1c.940-33G>A (n.940-33G>A)
c.214-33G>A (n.214-33G>A)
c.124-33G>A (n.124-33G>A)
c.742-33G>A (n.742-33G>A)
c.1006-33G>A (n.1006-33G>A)
c.976-33G>A (n.976-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230088G=CA1981897916INPPL1c.940-33G= (n.940-33G=)
c.214-33G= (n.214-33G=)
c.124-33G= (n.124-33G=)
c.742-33G= (n.742-33G=)
c.1006-33G= (n.1006-33G=)
c.976-33G= (n.976-33G=)
11g.72230088G>TCA2574912876INPPL1c.940-33G>T (n.940-33G>T)
c.214-33G>T (n.214-33G>T)
c.124-33G>T (n.124-33G>T)
c.742-33G>T (n.742-33G>T)
c.1006-33G>T (n.1006-33G>T)
c.976-33G>T (n.976-33G>T)
 gnomAD v4
11g.72230089T>ACA2574912877INPPL1c.940-32T>A (n.940-32T>A)
c.214-32T>A (n.214-32T>A)
c.124-32T>A (n.124-32T>A)
c.742-32T>A (n.742-32T>A)
c.1006-32T>A (n.1006-32T>A)
c.976-32T>A (n.976-32T>A)
11g.72230093G>ACA600243211INPPL1c.940-28G>A (n.940-28G>A)
c.214-28G>A (n.214-28G>A)
c.124-28G>A (n.124-28G>A)
c.742-28G>A (n.742-28G>A)
c.1006-28G>A (n.1006-28G>A)
c.976-28G>A (n.976-28G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230093G=CA1981897917INPPL1c.940-28G= (n.940-28G=)
c.214-28G= (n.214-28G=)
c.124-28G= (n.124-28G=)
c.742-28G= (n.742-28G=)
c.1006-28G= (n.1006-28G=)
c.976-28G= (n.976-28G=)
11g.72230093G>TCA1981897918INPPL1c.940-28G>T (n.940-28G>T)
c.214-28G>T (n.214-28G>T)
c.124-28G>T (n.124-28G>T)
c.742-28G>T (n.742-28G>T)
c.1006-28G>T (n.1006-28G>T)
c.976-28G>T (n.976-28G>T)
 dbSNP gnomAD v4
11g.72230095C=CA1981897919INPPL1c.940-26C= (n.940-26C=)
c.214-26C= (n.214-26C=)
c.124-26C= (n.124-26C=)
c.742-26C= (n.742-26C=)
c.1006-26C= (n.1006-26C=)
c.976-26C= (n.976-26C=)
11g.72230095C>GCA6169851INPPL1c.940-26C>G (n.940-26C>G)
c.214-26C>G (n.214-26C>G)
c.124-26C>G (n.124-26C>G)
c.742-26C>G (n.742-26C>G)
c.1006-26C>G (n.1006-26C>G)
c.976-26C>G (n.976-26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230098C>TCA2792650693INPPL1c.940-23C>T (n.940-23C>T)
c.214-23C>T (n.214-23C>T)
c.124-23C>T (n.124-23C>T)
c.742-23C>T (n.742-23C>T)
c.1006-23C>T (n.1006-23C>T)
c.976-23C>T (n.976-23C>T)
11g.72230100G=CA1981897920INPPL1c.940-21G= (n.940-21G=)
c.214-21G= (n.214-21G=)
c.124-21G= (n.124-21G=)
c.742-21G= (n.742-21G=)
c.1006-21G= (n.1006-21G=)
c.976-21G= (n.976-21G=)
11g.72230100G>TCA1981897921INPPL1c.940-21G>T (n.940-21G>T)
c.214-21G>T (n.214-21G>T)
c.124-21G>T (n.124-21G>T)
c.742-21G>T (n.742-21G>T)
c.1006-21G>T (n.1006-21G>T)
c.976-21G>T (n.976-21G>T)
 dbSNP gnomAD v4
11g.72230101C>TCA2573147664INPPL1c.940-20C>T (n.940-20C>T)
c.214-20C>T (n.214-20C>T)
c.124-20C>T (n.124-20C>T)
c.742-20C>T (n.742-20C>T)
c.1006-20C>T (n.1006-20C>T)
c.976-20C>T (n.976-20C>T)
 ClinVar dbSNP gnomAD v4
11g.72230102C=CA1981897922INPPL1c.940-19C= (n.940-19C=)
c.214-19C= (n.214-19C=)
c.124-19C= (n.124-19C=)
c.742-19C= (n.742-19C=)
c.1006-19C= (n.1006-19C=)
c.976-19C= (n.976-19C=)
11g.72230102C>TCA600243212INPPL1c.940-19C>T (n.940-19C>T)
c.214-19C>T (n.214-19C>T)
c.124-19C>T (n.124-19C>T)
c.742-19C>T (n.742-19C>T)
c.1006-19C>T (n.1006-19C>T)
c.976-19C>T (n.976-19C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.72230104C=CA1981897923INPPL1c.940-17C= (n.940-17C=)
c.214-17C= (n.214-17C=)
c.124-17C= (n.124-17C=)
c.742-17C= (n.742-17C=)
c.1006-17C= (n.1006-17C=)
c.976-17C= (n.976-17C=)
11g.72230104C>GCA2614932038INPPL1c.940-17C>G (n.940-17C>G)
c.214-17C>G (n.214-17C>G)
c.124-17C>G (n.124-17C>G)
c.742-17C>G (n.742-17C>G)
c.1006-17C>G (n.1006-17C>G)
c.976-17C>G (n.976-17C>G)
 gnomAD v4
11g.72230104C>TCA1981897924INPPL1c.940-17C>T (n.940-17C>T)
c.214-17C>T (n.214-17C>T)
c.124-17C>T (n.124-17C>T)
c.742-17C>T (n.742-17C>T)
c.1006-17C>T (n.1006-17C>T)
c.976-17C>T (n.976-17C>T)
 dbSNP
11g.72230106C>ACA600243214INPPL1c.940-15C>A (n.940-15C>A)
c.214-15C>A (n.214-15C>A)
c.124-15C>A (n.124-15C>A)
c.742-15C>A (n.742-15C>A)
c.1006-15C>A (n.1006-15C>A)
c.976-15C>A (n.976-15C>A)
 dbSNP gnomAD v2
11g.72230106C=CA1981897925INPPL1c.940-15C= (n.940-15C=)
c.214-15C= (n.214-15C=)
c.124-15C= (n.124-15C=)
c.742-15C= (n.742-15C=)
c.1006-15C= (n.1006-15C=)
c.976-15C= (n.976-15C=)
11g.72230106C>GCA600243213INPPL1c.940-15C>G (n.940-15C>G)
c.214-15C>G (n.214-15C>G)
c.124-15C>G (n.124-15C>G)
c.742-15C>G (n.742-15C>G)
c.1006-15C>G (n.1006-15C>G)
c.976-15C>G (n.976-15C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.72230107C>ACA2574912878INPPL1c.940-14C>A (n.940-14C>A)
c.214-14C>A (n.214-14C>A)
c.124-14C>A (n.124-14C>A)
c.742-14C>A (n.742-14C>A)
c.1006-14C>A (n.1006-14C>A)
c.976-14C>A (n.976-14C>A)
11g.72230107C=CA1981897926INPPL1c.940-14C= (n.940-14C=)
c.214-14C= (n.214-14C=)
c.124-14C= (n.124-14C=)
c.742-14C= (n.742-14C=)
c.1006-14C= (n.1006-14C=)
c.976-14C= (n.976-14C=)
11g.72230107C>TCA939440511INPPL1c.940-14C>T (n.940-14C>T)
c.214-14C>T (n.214-14C>T)
c.124-14C>T (n.124-14C>T)
c.742-14C>T (n.742-14C>T)
c.1006-14C>T (n.1006-14C>T)
c.976-14C>T (n.976-14C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.72230108A>CCA2614932039INPPL1c.940-13A>C (n.940-13A>C)
c.214-13A>C (n.214-13A>C)
c.124-13A>C (n.124-13A>C)
c.742-13A>C (n.742-13A>C)
c.1006-13A>C (n.1006-13A>C)
c.976-13A>C (n.976-13A>C)
 gnomAD v4
11g.72230108A>GCA2614932040INPPL1c.940-13A>G (n.940-13A>G)
c.214-13A>G (n.214-13A>G)
c.124-13A>G (n.124-13A>G)
c.742-13A>G (n.742-13A>G)
c.1006-13A>G (n.1006-13A>G)
c.976-13A>G (n.976-13A>G)
 gnomAD v4
11g.72230109C>ACA2614932041INPPL1c.940-12C>A (n.940-12C>A)
c.214-12C>A (n.214-12C>A)
c.124-12C>A (n.124-12C>A)
c.742-12C>A (n.742-12C>A)
c.1006-12C>A (n.1006-12C>A)
c.976-12C>A (n.976-12C>A)
 gnomAD v4
11g.72230110C>ACA600243215INPPL1c.940-11C>A (n.940-11C>A)
c.214-11C>A (n.214-11C>A)
c.124-11C>A (n.124-11C>A)
c.742-11C>A (n.742-11C>A)
c.1006-11C>A (n.1006-11C>A)
c.976-11C>A (n.976-11C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.72230110C=CA1981897927INPPL1c.940-11C= (n.940-11C=)
c.214-11C= (n.214-11C=)
c.124-11C= (n.124-11C=)
c.742-11C= (n.742-11C=)
c.1006-11C= (n.1006-11C=)
c.976-11C= (n.976-11C=)
11g.72230110C>TCA600243216INPPL1c.940-11C>T (n.940-11C>T)
c.214-11C>T (n.214-11C>T)
c.124-11C>T (n.124-11C>T)
c.742-11C>T (n.742-11C>T)
c.1006-11C>T (n.1006-11C>T)
c.976-11C>T (n.976-11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230112G>ACA2614932042INPPL1c.940-9G>A (n.940-9G>A)
c.214-9G>A (n.214-9G>A)
c.124-9G>A (n.124-9G>A)
c.742-9G>A (n.742-9G>A)
c.1006-9G>A (n.1006-9G>A)
c.976-9G>A (n.976-9G>A)
 gnomAD v4
11g.72230112G>CCA1981897929INPPL1c.940-9G>C (n.940-9G>C)
c.214-9G>C (n.214-9G>C)
c.124-9G>C (n.124-9G>C)
c.742-9G>C (n.742-9G>C)
c.1006-9G>C (n.1006-9G>C)
c.976-9G>C (n.976-9G>C)
 dbSNP
11g.72230112G=CA1981897928INPPL1c.940-9G= (n.940-9G=)
c.214-9G= (n.214-9G=)
c.124-9G= (n.124-9G=)
c.742-9G= (n.742-9G=)
c.1006-9G= (n.1006-9G=)
c.976-9G= (n.976-9G=)
11g.72230114C>TCA2574912879INPPL1c.940-7C>T (n.940-7C>T)
c.214-7C>T (n.214-7C>T)
c.124-7C>T (n.124-7C>T)
c.742-7C>T (n.742-7C>T)
c.1006-7C>T (n.1006-7C>T)
c.976-7C>T (n.976-7C>T)
11g.72230117A=CA1981897930INPPL1c.940-4A= (n.940-4A=)
c.214-4A= (n.214-4A=)
c.124-4A= (n.124-4A=)
c.742-4A= (n.742-4A=)
c.1006-4A= (n.1006-4A=)
c.976-4A= (n.976-4A=)
11g.72230117A>GCA6169852INPPL1c.940-4A>G (n.940-4A>G)
c.214-4A>G (n.214-4A>G)
c.124-4A>G (n.124-4A>G)
c.742-4A>G (n.742-4A>G)
c.1006-4A>G (n.1006-4A>G)
c.976-4A>G (n.976-4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230118C=CA1981897931INPPL1c.940-3C= (n.940-3C=)
c.214-3C= (n.214-3C=)
c.124-3C= (n.124-3C=)
c.742-3C= (n.742-3C=)
c.1006-3C= (n.1006-3C=)
c.976-3C= (n.976-3C=)
11g.72230118C>TCA1981897932INPPL1c.940-3C>T (n.940-3C>T)
c.214-3C>T (n.214-3C>T)
c.124-3C>T (n.124-3C>T)
c.742-3C>T (n.742-3C>T)
c.1006-3C>T (n.1006-3C>T)
c.976-3C>T (n.976-3C>T)
 dbSNP gnomAD v4
11g.72230119A=CA1981897933INPPL1c.940-2A= (n.940-2A=)
c.214-2A= (n.214-2A=)
c.124-2A= (n.124-2A=)
c.742-2A= (n.742-2A=)
c.1006-2A= (n.1006-2A=)
c.976-2A= (n.976-2A=)
11g.72230119A>CCA381723537INPPL1c.940-2A>C (n.940-2A>C)
c.214-2A>C (n.214-2A>C)
c.124-2A>C (n.124-2A>C)
c.742-2A>C (n.742-2A>C)
c.1006-2A>C (n.1006-2A>C)
c.976-2A>C (n.976-2A>C)
11g.72230119A>GCA381723541INPPL1c.940-2A>G (n.940-2A>G)
c.214-2A>G (n.214-2A>G)
c.124-2A>G (n.124-2A>G)
c.742-2A>G (n.742-2A>G)
c.1006-2A>G (n.1006-2A>G)
c.976-2A>G (n.976-2A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.72230119A>TCA381723544INPPL1c.940-2A>T (n.940-2A>T)
c.214-2A>T (n.214-2A>T)
c.124-2A>T (n.124-2A>T)
c.742-2A>T (n.742-2A>T)
c.1006-2A>T (n.1006-2A>T)
c.976-2A>T (n.976-2A>T)
11g.72230120G>ACA381723548INPPL1c.940-1G>A (n.940-1G>A)
c.214-1G>A (n.214-1G>A)
c.124-1G>A (n.124-1G>A)
c.742-1G>A (n.742-1G>A)
c.1006-1G>A (n.1006-1G>A)
c.976-1G>A (n.976-1G>A)
 gnomAD v4
11g.72230120G>CCA6169853INPPL1c.940-1G>C (n.940-1G>C)
c.214-1G>C (n.214-1G>C)
c.124-1G>C (n.124-1G>C)
c.742-1G>C (n.742-1G>C)
c.1006-1G>C (n.1006-1G>C)
c.976-1G>C (n.976-1G>C)
 dbSNP ExAC gnomAD v2
11g.72230120G=CA1981897934INPPL1c.940-1G= (n.940-1G=)
c.214-1G= (n.214-1G=)
c.124-1G= (n.124-1G=)
c.742-1G= (n.742-1G=)
c.1006-1G= (n.1006-1G=)
c.976-1G= (n.976-1G=)
11g.72230120G>TCA381723551INPPL1c.940-1G>T (n.940-1G>T)
c.214-1G>T (n.214-1G>T)
c.124-1G>T (n.124-1G>T)
c.742-1G>T (n.742-1G>T)
c.1006-1G>T (n.1006-1G>T)
c.976-1G>T (n.976-1G>T)
11g.72230121G>ACA6169854INPPL1c.940G>A (p.Val314Met)
c.214G>A (p.Val72Met)
c.124G>A (p.Val42Met)
c.742G>A (p.Val248Met)
c.1006G>A (p.Val336Met)
c.976G>A (p.Val326Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230121G>CCA381723557INPPL1c.940G>C (p.Val314Leu)
c.214G>C (p.Val72Leu)
c.124G>C (p.Val42Leu)
c.742G>C (p.Val248Leu)
c.1006G>C (p.Val336Leu)
c.976G>C (p.Val326Leu)
11g.72230121G=CA1981897935INPPL1c.940G= (p.Val314=)
c.214G= (p.Val72=)
c.124G= (p.Val42=)
c.742G= (p.Val248=)
c.1006G= (p.Val336=)
c.976G= (p.Val326=)
11g.72230121G>TCA381723558INPPL1c.940G>T (p.Val314Leu)
c.214G>T (p.Val72Leu)
c.124G>T (p.Val42Leu)
c.742G>T (p.Val248Leu)
c.1006G>T (p.Val336Leu)
c.976G>T (p.Val326Leu)
11g.72230122T>ACA381723569INPPL1c.941T>A (p.Val314Glu)
c.215T>A (p.Val72Glu)
c.125T>A (p.Val42Glu)
c.743T>A (p.Val248Glu)
c.1007T>A (p.Val336Glu)
c.977T>A (p.Val326Glu)
11g.72230122T>CCA381723577INPPL1c.941T>C (p.Val314Ala)
c.215T>C (p.Val72Ala)
c.125T>C (p.Val42Ala)
c.743T>C (p.Val248Ala)
c.1007T>C (p.Val336Ala)
c.977T>C (p.Val326Ala)
11g.72230122T>GCA381723574INPPL1c.941T>G (p.Val314Gly)
c.215T>G (p.Val72Gly)
c.125T>G (p.Val42Gly)
c.743T>G (p.Val248Gly)
c.1007T>G (p.Val336Gly)
c.977T>G (p.Val326Gly)
 gnomAD v4
11g.72230123G>ACA475865949INPPL1c.942G>A (p.Val314=)
c.216G>A (p.Val72=)
c.126G>A (p.Val42=)
c.744G>A (p.Val248=)
c.1008G>A (p.Val336=)
c.978G>A (p.Val326=)
11g.72230123G>CCA475865950INPPL1c.942G>C (p.Val314=)
c.216G>C (p.Val72=)
c.126G>C (p.Val42=)
c.744G>C (p.Val248=)
c.1008G>C (p.Val336=)
c.978G>C (p.Val326=)
11g.72230123G>TCA475865951INPPL1c.942G>T (p.Val314=)
c.216G>T (p.Val72=)
c.126G>T (p.Val42=)
c.744G>T (p.Val248=)
c.1008G>T (p.Val336=)
c.978G>T (p.Val326=)
11g.72230124A>CCA381723580INPPL1c.943A>C (p.Lys315Gln)
c.217A>C (p.Lys73Gln)
c.127A>C (p.Lys43Gln)
c.745A>C (p.Lys249Gln)
c.1009A>C (p.Lys337Gln)
c.979A>C (p.Lys327Gln)
11g.72230124A>GCA381723582INPPL1c.943A>G (p.Lys315Glu)
c.217A>G (p.Lys73Glu)
c.127A>G (p.Lys43Glu)
c.745A>G (p.Lys249Glu)
c.1009A>G (p.Lys337Glu)
c.979A>G (p.Lys327Glu)
11g.72230124A>TCA381723581INPPL1c.943A>T (p.Lys315Ter)
c.217A>T (p.Lys73Ter)
c.127A>T (p.Lys43Ter)
c.745A>T (p.Lys249Ter)
c.1009A>T (p.Lys337Ter)
c.979A>T (p.Lys327Ter)
11g.72230125A>CCA381723583INPPL1c.944A>C (p.Lys315Thr)
c.218A>C (p.Lys73Thr)
c.128A>C (p.Lys43Thr)
c.746A>C (p.Lys249Thr)
c.1010A>C (p.Lys337Thr)
c.980A>C (p.Lys327Thr)
11g.72230125A>GCA381723586INPPL1c.944A>G (p.Lys315Arg)
c.218A>G (p.Lys73Arg)
c.128A>G (p.Lys43Arg)
c.746A>G (p.Lys249Arg)
c.1010A>G (p.Lys337Arg)
c.980A>G (p.Lys327Arg)
11g.72230125A>TCA381723597INPPL1c.944A>T (p.Lys315Met)
c.218A>T (p.Lys73Met)
c.128A>T (p.Lys43Met)
c.746A>T (p.Lys249Met)
c.1010A>T (p.Lys337Met)
c.980A>T (p.Lys327Met)
11g.72230126G>ACA475865952INPPL1c.945G>A (p.Lys315=)
c.219G>A (p.Lys73=)
c.129G>A (p.Lys43=)
c.747G>A (p.Lys249=)
c.1011G>A (p.Lys337=)
c.981G>A (p.Lys327=)
 gnomAD v4
11g.72230126G>CCA381723601INPPL1c.945G>C (p.Lys315Asn)
c.219G>C (p.Lys73Asn)
c.129G>C (p.Lys43Asn)
c.747G>C (p.Lys249Asn)
c.1011G>C (p.Lys337Asn)
c.981G>C (p.Lys327Asn)
11g.72230126G>TCA381723606INPPL1c.945G>T (p.Lys315Asn)
c.219G>T (p.Lys73Asn)
c.129G>T (p.Lys43Asn)
c.747G>T (p.Lys249Asn)
c.1011G>T (p.Lys337Asn)
c.981G>T (p.Lys327Asn)
11g.72230127C>ACA381723629INPPL1c.946C>A (p.Leu316Ile)
c.220C>A (p.Leu74Ile)
c.130C>A (p.Leu44Ile)
c.748C>A (p.Leu250Ile)
c.1012C>A (p.Leu338Ile)
c.982C>A (p.Leu328Ile)
11g.72230127C=CA1981897936INPPL1c.946C= (p.Leu316=)
c.220C= (p.Leu74=)
c.130C= (p.Leu44=)
c.748C= (p.Leu250=)
c.1012C= (p.Leu338=)
c.982C= (p.Leu328=)
11g.72230127C>GCA381723631INPPL1c.946C>G (p.Leu316Val)
c.220C>G (p.Leu74Val)
c.130C>G (p.Leu44Val)
c.748C>G (p.Leu250Val)
c.1012C>G (p.Leu338Val)
c.982C>G (p.Leu328Val)
11g.72230127C>TCA224375874INPPL1c.946C>T (p.Leu316=)
c.220C>T (p.Leu74=)
c.130C>T (p.Leu44=)
c.748C>T (p.Leu250=)
c.1012C>T (p.Leu338=)
c.982C>T (p.Leu328=)
 dbSNP gnomAD v3 gnomAD v4
11g.72230128T>ACA381723636INPPL1c.947T>A (p.Leu316Gln)
c.221T>A (p.Leu74Gln)
c.131T>A (p.Leu44Gln)
c.749T>A (p.Leu250Gln)
c.1013T>A (p.Leu338Gln)
c.983T>A (p.Leu328Gln)
11g.72230128T>CCA381723639INPPL1c.947T>C (p.Leu316Pro)
c.221T>C (p.Leu74Pro)
c.131T>C (p.Leu44Pro)
c.749T>C (p.Leu250Pro)
c.1013T>C (p.Leu338Pro)
c.983T>C (p.Leu328Pro)
11g.72230128T>GCA381723643INPPL1c.947T>G (p.Leu316Arg)
c.221T>G (p.Leu74Arg)
c.131T>G (p.Leu44Arg)
c.749T>G (p.Leu250Arg)
c.1013T>G (p.Leu338Arg)
c.983T>G (p.Leu328Arg)
11g.72230129A=CA1981897937INPPL1c.948A= (p.Leu316=)
c.222A= (p.Leu74=)
c.132A= (p.Leu44=)
c.750A= (p.Leu250=)
c.1014A= (p.Leu338=)
c.984A= (p.Leu328=)
11g.72230129A>CCA475865953INPPL1c.948A>C (p.Leu316=)
c.222A>C (p.Leu74=)
c.132A>C (p.Leu44=)
c.750A>C (p.Leu250=)
c.1014A>C (p.Leu338=)
c.984A>C (p.Leu328=)
11g.72230129A>GCA475865954INPPL1c.948A>G (p.Leu316=)
c.222A>G (p.Leu74=)
c.132A>G (p.Leu44=)
c.750A>G (p.Leu250=)
c.1014A>G (p.Leu338=)
c.984A>G (p.Leu328=)
 dbSNP gnomAD v2 gnomAD v4
11g.72230129A>TCA475865955INPPL1c.948A>T (p.Leu316=)
c.222A>T (p.Leu74=)
c.132A>T (p.Leu44=)
c.750A>T (p.Leu250=)
c.1014A>T (p.Leu338=)
c.984A>T (p.Leu328=)
11g.72230130G>ACA381723658INPPL1c.949G>A (p.Asp317Asn)
c.223G>A (p.Asp75Asn)
c.133G>A (p.Asp45Asn)
c.751G>A (p.Asp251Asn)
c.1015G>A (p.Asp339Asn)
c.985G>A (p.Asp329Asn)
11g.72230130G>CCA381723652INPPL1c.949G>C (p.Asp317His)
c.223G>C (p.Asp75His)
c.133G>C (p.Asp45His)
c.751G>C (p.Asp251His)
c.1015G>C (p.Asp339His)
c.985G>C (p.Asp329His)
11g.72230130G>TCA381723655INPPL1c.949G>T (p.Asp317Tyr)
c.223G>T (p.Asp75Tyr)
c.133G>T (p.Asp45Tyr)
c.751G>T (p.Asp251Tyr)
c.1015G>T (p.Asp339Tyr)
c.985G>T (p.Asp329Tyr)
11g.72230131A>CCA381723666INPPL1c.950A>C (p.Asp317Ala)
c.224A>C (p.Asp75Ala)
c.134A>C (p.Asp45Ala)
c.752A>C (p.Asp251Ala)
c.1016A>C (p.Asp339Ala)
c.986A>C (p.Asp329Ala)
11g.72230131A>GCA381723667INPPL1c.950A>G (p.Asp317Gly)
c.224A>G (p.Asp75Gly)
c.134A>G (p.Asp45Gly)
c.752A>G (p.Asp251Gly)
c.1016A>G (p.Asp339Gly)
c.986A>G (p.Asp329Gly)
11g.72230131A>TCA381723669INPPL1c.950A>T (p.Asp317Val)
c.224A>T (p.Asp75Val)
c.134A>T (p.Asp45Val)
c.752A>T (p.Asp251Val)
c.1016A>T (p.Asp339Val)
c.986A>T (p.Asp329Val)
 COSMIC
11g.72230132T>ACA381723674INPPL1c.951T>A (p.Asp317Glu)
c.225T>A (p.Asp75Glu)
c.135T>A (p.Asp45Glu)
c.753T>A (p.Asp251Glu)
c.1017T>A (p.Asp339Glu)
c.987T>A (p.Asp329Glu)
11g.72230132T>CCA475865956INPPL1c.951T>C (p.Asp317=)
c.225T>C (p.Asp75=)
c.135T>C (p.Asp45=)
c.753T>C (p.Asp251=)
c.1017T>C (p.Asp339=)
c.987T>C (p.Asp329=)
11g.72230132T>GCA381723678INPPL1c.951T>G (p.Asp317Glu)
c.225T>G (p.Asp75Glu)
c.135T>G (p.Asp45Glu)
c.753T>G (p.Asp251Glu)
c.1017T>G (p.Asp339Glu)
c.987T>G (p.Asp329Glu)
11g.72230133G>ACA381723682INPPL1c.952G>A (p.Val318Met)
c.226G>A (p.Val76Met)
c.136G>A (p.Val46Met)
c.754G>A (p.Val252Met)
c.1018G>A (p.Val340Met)
c.988G>A (p.Val330Met)
11g.72230133G>CCA381723684INPPL1c.952G>C (p.Val318Leu)
c.226G>C (p.Val76Leu)
c.136G>C (p.Val46Leu)
c.754G>C (p.Val252Leu)
c.1018G>C (p.Val340Leu)
c.988G>C (p.Val330Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.72230133G=CA1981897938INPPL1c.952G= (p.Val318=)
c.226G= (p.Val76=)
c.136G= (p.Val46=)
c.754G= (p.Val252=)
c.1018G= (p.Val340=)
c.988G= (p.Val330=)
11g.72230133G>TCA381723688INPPL1c.952G>T (p.Val318Leu)
c.226G>T (p.Val76Leu)
c.136G>T (p.Val46Leu)
c.754G>T (p.Val252Leu)
c.1018G>T (p.Val340Leu)
c.988G>T (p.Val330Leu)
 gnomAD v4
11g.72230134T>ACA381723692INPPL1c.953T>A (p.Val318Glu)
c.227T>A (p.Val76Glu)
c.137T>A (p.Val46Glu)
c.755T>A (p.Val252Glu)
c.1019T>A (p.Val340Glu)
c.989T>A (p.Val330Glu)
11g.72230134T>CCA381723695INPPL1c.953T>C (p.Val318Ala)
c.227T>C (p.Val76Ala)
c.137T>C (p.Val46Ala)
c.755T>C (p.Val252Ala)
c.1019T>C (p.Val340Ala)
c.989T>C (p.Val330Ala)
11g.72230134T>GCA381723699INPPL1c.953T>G (p.Val318Gly)
c.227T>G (p.Val76Gly)
c.137T>G (p.Val46Gly)
c.755T>G (p.Val252Gly)
c.1019T>G (p.Val340Gly)
c.989T>G (p.Val330Gly)
11g.72230135G>ACA475865957INPPL1c.954G>A (p.Val318=)
c.228G>A (p.Val76=)
c.138G>A (p.Val46=)
c.756G>A (p.Val252=)
c.1020G>A (p.Val340=)
c.990G>A (p.Val330=)
11g.72230135G>CCA475865958INPPL1c.954G>C (p.Val318=)
c.228G>C (p.Val76=)
c.138G>C (p.Val46=)
c.756G>C (p.Val252=)
c.1020G>C (p.Val340=)
c.990G>C (p.Val330=)
11g.72230135G>TCA475865959INPPL1c.954G>T (p.Val318=)
c.228G>T (p.Val76=)
c.138G>T (p.Val46=)
c.756G>T (p.Val252=)
c.1020G>T (p.Val340=)
c.990G>T (p.Val330=)
11g.72230136A>CCA381723706INPPL1c.955A>C (p.Thr319Pro)
c.229A>C (p.Thr77Pro)
c.139A>C (p.Thr47Pro)
c.757A>C (p.Thr253Pro)
c.1021A>C (p.Thr341Pro)
c.991A>C (p.Thr331Pro)
11g.72230136A>GCA381723713INPPL1c.955A>G (p.Thr319Ala)
c.229A>G (p.Thr77Ala)
c.139A>G (p.Thr47Ala)
c.757A>G (p.Thr253Ala)
c.1021A>G (p.Thr341Ala)
c.991A>G (p.Thr331Ala)
11g.72230136A>TCA381723702INPPL1c.955A>T (p.Thr319Ser)
c.229A>T (p.Thr77Ser)
c.139A>T (p.Thr47Ser)
c.757A>T (p.Thr253Ser)
c.1021A>T (p.Thr341Ser)
c.991A>T (p.Thr331Ser)
11g.72230137C>ACA381723718INPPL1c.956C>A (p.Thr319Asn)
c.230C>A (p.Thr77Asn)
c.140C>A (p.Thr47Asn)
c.758C>A (p.Thr253Asn)
c.1022C>A (p.Thr341Asn)
c.992C>A (p.Thr331Asn)
11g.72230137C=CA1981897939INPPL1c.956C= (p.Thr319=)
c.230C= (p.Thr77=)
c.140C= (p.Thr47=)
c.758C= (p.Thr253=)
c.1022C= (p.Thr341=)
c.992C= (p.Thr331=)
11g.72230137C>GCA381723723INPPL1c.956C>G (p.Thr319Ser)
c.230C>G (p.Thr77Ser)
c.140C>G (p.Thr47Ser)
c.758C>G (p.Thr253Ser)
c.1022C>G (p.Thr341Ser)
c.992C>G (p.Thr331Ser)
11g.72230137C>TCA6169855INPPL1c.956C>T (p.Thr319Ile)
c.230C>T (p.Thr77Ile)
c.140C>T (p.Thr47Ile)
c.758C>T (p.Thr253Ile)
c.1022C>T (p.Thr341Ile)
c.992C>T (p.Thr331Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72230138C>ACA475865960INPPL1c.957C>A (p.Thr319=)
c.231C>A (p.Thr77=)
c.141C>A (p.Thr47=)
c.759C>A (p.Thr253=)
c.1023C>A (p.Thr341=)
c.993C>A (p.Thr331=)
 dbSNP gnomAD v2 gnomAD v4
11g.72230138C=CA1981897940INPPL1c.957C= (p.Thr319=)
c.231C= (p.Thr77=)
c.141C= (p.Thr47=)
c.759C= (p.Thr253=)
c.1023C= (p.Thr341=)
c.993C= (p.Thr331=)
11g.72230138C>GCA475865961INPPL1c.957C>G (p.Thr319=)
c.231C>G (p.Thr77=)
c.141C>G (p.Thr47=)
c.759C>G (p.Thr253=)
c.1023C>G (p.Thr341=)
c.993C>G (p.Thr331=)
 gnomAD v4
11g.72230138C>TCA475865962INPPL1c.957C>T (p.Thr319=)
c.231C>T (p.Thr77=)
c.141C>T (p.Thr47=)
c.759C>T (p.Thr253=)
c.1023C>T (p.Thr341=)
c.993C>T (p.Thr331=)
11g.72230139C>ACA381723740INPPL1c.958C>A (p.Leu320Met)
c.232C>A (p.Leu78Met)
c.142C>A (p.Leu48Met)
c.760C>A (p.Leu254Met)
c.1024C>A (p.Leu342Met)
c.994C>A (p.Leu332Met)
11g.72230139C=CA1981897941INPPL1c.958C= (p.Leu320=)
c.232C= (p.Leu78=)
c.142C= (p.Leu48=)
c.760C= (p.Leu254=)
c.1024C= (p.Leu342=)
c.994C= (p.Leu332=)
11g.72230139C>GCA381723741INPPL1c.958C>G (p.Leu320Val)
c.232C>G (p.Leu78Val)
c.142C>G (p.Leu48Val)
c.760C>G (p.Leu254Val)
c.1024C>G (p.Leu342Val)
c.994C>G (p.Leu332Val)
11g.72230139C>TCA6169856INPPL1c.958C>T (p.Leu320=)
c.232C>T (p.Leu78=)
c.142C>T (p.Leu48=)
c.760C>T (p.Leu254=)
c.1024C>T (p.Leu342=)
c.994C>T (p.Leu332=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230140T>ACA381723742INPPL1c.959T>A (p.Leu320Gln)
c.233T>A (p.Leu78Gln)
c.143T>A (p.Leu48Gln)
c.761T>A (p.Leu254Gln)
c.1025T>A (p.Leu342Gln)
c.995T>A (p.Leu332Gln)
11g.72230140T>CCA381723743INPPL1c.959T>C (p.Leu320Pro)
c.233T>C (p.Leu78Pro)
c.143T>C (p.Leu48Pro)
c.761T>C (p.Leu254Pro)
c.1025T>C (p.Leu342Pro)
c.995T>C (p.Leu332Pro)
11g.72230140T>GCA381723744INPPL1c.959T>G (p.Leu320Arg)
c.233T>G (p.Leu78Arg)
c.143T>G (p.Leu48Arg)
c.761T>G (p.Leu254Arg)
c.1025T>G (p.Leu342Arg)
c.995T>G (p.Leu332Arg)
11g.72230141G>ACA475865964INPPL1c.960G>A (p.Leu320=)
c.234G>A (p.Leu78=)
c.144G>A (p.Leu48=)
c.762G>A (p.Leu254=)
c.1026G>A (p.Leu342=)
c.996G>A (p.Leu332=)
 gnomAD v4
11g.72230141G>CCA475865965INPPL1c.960G>C (p.Leu320=)
c.234G>C (p.Leu78=)
c.144G>C (p.Leu48=)
c.762G>C (p.Leu254=)
c.1026G>C (p.Leu342=)
c.996G>C (p.Leu332=)
11g.72230141G>TCA475865963INPPL1c.960G>T (p.Leu320=)
c.234G>T (p.Leu78=)
c.144G>T (p.Leu48=)
c.762G>T (p.Leu254=)
c.1026G>T (p.Leu342=)
c.996G>T (p.Leu332=)
11g.72230142G>ACA381723748INPPL1c.961G>A (p.Gly321Ser)
c.235G>A (p.Gly79Ser)
c.145G>A (p.Gly49Ser)
c.763G>A (p.Gly255Ser)
c.1027G>A (p.Gly343Ser)
c.997G>A (p.Gly333Ser)
 gnomAD v4
11g.72230142G>CCA381723749INPPL1c.961G>C (p.Gly321Arg)
c.235G>C (p.Gly79Arg)
c.145G>C (p.Gly49Arg)
c.763G>C (p.Gly255Arg)
c.1027G>C (p.Gly343Arg)
c.997G>C (p.Gly333Arg)
11g.72230142G>TCA381723753INPPL1c.961G>T (p.Gly321Cys)
c.235G>T (p.Gly79Cys)
c.145G>T (p.Gly49Cys)
c.763G>T (p.Gly255Cys)
c.1027G>T (p.Gly343Cys)
c.997G>T (p.Gly333Cys)
11g.72230143G>ACA381723767INPPL1c.962G>A (p.Gly321Asp)
c.236G>A (p.Gly79Asp)
c.146G>A (p.Gly49Asp)
c.764G>A (p.Gly255Asp)
c.1028G>A (p.Gly343Asp)
c.998G>A (p.Gly333Asp)
11g.72230143G>CCA381723770INPPL1c.962G>C (p.Gly321Ala)
c.236G>C (p.Gly79Ala)
c.146G>C (p.Gly49Ala)
c.764G>C (p.Gly255Ala)
c.1028G>C (p.Gly343Ala)
c.998G>C (p.Gly333Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.72230143G=CA1981897942INPPL1c.962G= (p.Gly321=)
c.236G= (p.Gly79=)
c.146G= (p.Gly49=)
c.764G= (p.Gly255=)
c.1028G= (p.Gly343=)
c.998G= (p.Gly333=)
11g.72230143G>TCA381723758INPPL1c.962G>T (p.Gly321Val)
c.236G>T (p.Gly79Val)
c.146G>T (p.Gly49Val)
c.764G>T (p.Gly255Val)
c.1028G>T (p.Gly343Val)
c.998G>T (p.Gly333Val)
11g.72230144T>ACA475865968INPPL1c.963T>A (p.Gly321=)
c.237T>A (p.Gly79=)
c.147T>A (p.Gly49=)
c.765T>A (p.Gly255=)
c.1029T>A (p.Gly343=)
c.999T>A (p.Gly333=)
11g.72230144T>CCA475865967INPPL1c.963T>C (p.Gly321=)
c.237T>C (p.Gly79=)
c.147T>C (p.Gly49=)
c.765T>C (p.Gly255=)
c.1029T>C (p.Gly343=)
c.999T>C (p.Gly333=)
11g.72230144T>GCA475865966INPPL1c.963T>G (p.Gly321=)
c.237T>G (p.Gly79=)
c.147T>G (p.Gly49=)
c.765T>G (p.Gly255=)
c.1029T>G (p.Gly343=)
c.999T>G (p.Gly333=)
11g.72230145G>ACA381723774INPPL1c.964G>A (p.Asp322Asn)
c.238G>A (p.Asp80Asn)
c.148G>A (p.Asp50Asn)
c.766G>A (p.Asp256Asn)
c.1030G>A (p.Asp344Asn)
c.1000G>A (p.Asp334Asn)
 gnomAD v4
11g.72230145G>CCA381723777INPPL1c.964G>C (p.Asp322His)
c.238G>C (p.Asp80His)
c.148G>C (p.Asp50His)
c.766G>C (p.Asp256His)
c.1030G>C (p.Asp344His)
c.1000G>C (p.Asp334His)
11g.72230145G>TCA381723781INPPL1c.964G>T (p.Asp322Tyr)
c.238G>T (p.Asp80Tyr)
c.148G>T (p.Asp50Tyr)
c.766G>T (p.Asp256Tyr)
c.1030G>T (p.Asp344Tyr)
c.1000G>T (p.Asp334Tyr)
11g.72230146A>CCA381723786INPPL1c.965A>C (p.Asp322Ala)
c.239A>C (p.Asp80Ala)
c.149A>C (p.Asp50Ala)
c.767A>C (p.Asp256Ala)
c.1031A>C (p.Asp344Ala)
c.1001A>C (p.Asp334Ala)
11g.72230146A>GCA381723791INPPL1c.965A>G (p.Asp322Gly)
c.239A>G (p.Asp80Gly)
c.149A>G (p.Asp50Gly)
c.767A>G (p.Asp256Gly)
c.1031A>G (p.Asp344Gly)
c.1001A>G (p.Asp334Gly)
11g.72230146A>TCA381723797INPPL1c.965A>T (p.Asp322Val)
c.239A>T (p.Asp80Val)
c.149A>T (p.Asp50Val)
c.767A>T (p.Asp256Val)
c.1031A>T (p.Asp344Val)
c.1001A>T (p.Asp334Val)
11g.72230147C>ACA381723801INPPL1c.966C>A (p.Asp322Glu)
c.240C>A (p.Asp80Glu)
c.150C>A (p.Asp50Glu)
c.768C>A (p.Asp256Glu)
c.1032C>A (p.Asp344Glu)
c.1002C>A (p.Asp334Glu)
11g.72230147C=CA1981897943INPPL1c.966C= (p.Asp322=)
c.240C= (p.Asp80=)
c.150C= (p.Asp50=)
c.768C= (p.Asp256=)
c.1032C= (p.Asp344=)
c.1002C= (p.Asp334=)
11g.72230147C>GCA381723802INPPL1c.966C>G (p.Asp322Glu)
c.240C>G (p.Asp80Glu)
c.150C>G (p.Asp50Glu)
c.768C>G (p.Asp256Glu)
c.1032C>G (p.Asp344Glu)
c.1002C>G (p.Asp334Glu)
11g.72230147C>TCA475865970INPPL1c.966C>T (p.Asp322=)
c.240C>T (p.Asp80=)
c.150C>T (p.Asp50=)
c.768C>T (p.Asp256=)
c.1032C>T (p.Asp344=)
c.1002C>T (p.Asp334=)
 dbSNP
11g.72230148C>ACA381723803INPPL1c.967C>A (p.Leu323Met)
c.241C>A (p.Leu81Met)
c.151C>A (p.Leu51Met)
c.769C>A (p.Leu257Met)
c.1033C>A (p.Leu345Met)
c.1003C>A (p.Leu335Met)
11g.72230148C=CA1981897944INPPL1c.967C= (p.Leu323=)
c.241C= (p.Leu81=)
c.151C= (p.Leu51=)
c.769C= (p.Leu257=)
c.1033C= (p.Leu345=)
c.1003C= (p.Leu335=)
11g.72230148C>GCA381723804INPPL1c.967C>G (p.Leu323Val)
c.241C>G (p.Leu81Val)
c.151C>G (p.Leu51Val)
c.769C>G (p.Leu257Val)
c.1033C>G (p.Leu345Val)
c.1003C>G (p.Leu335Val)
11g.72230148C>TCA475865971INPPL1c.967C>T (p.Leu323=)
c.241C>T (p.Leu81=)
c.151C>T (p.Leu51=)
c.769C>T (p.Leu257=)
c.1033C>T (p.Leu345=)
c.1003C>T (p.Leu335=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230149T>ACA381723808INPPL1c.968T>A (p.Leu323Gln)
c.242T>A (p.Leu81Gln)
c.152T>A (p.Leu51Gln)
c.770T>A (p.Leu257Gln)
c.1034T>A (p.Leu345Gln)
c.1004T>A (p.Leu335Gln)
11g.72230149T>CCA381723813INPPL1c.968T>C (p.Leu323Pro)
c.242T>C (p.Leu81Pro)
c.152T>C (p.Leu51Pro)
c.770T>C (p.Leu257Pro)
c.1034T>C (p.Leu345Pro)
c.1004T>C (p.Leu335Pro)
 gnomAD v4
11g.72230149T>GCA381723817INPPL1c.968T>G (p.Leu323Arg)
c.242T>G (p.Leu81Arg)
c.152T>G (p.Leu51Arg)
c.770T>G (p.Leu257Arg)
c.1034T>G (p.Leu345Arg)
c.1004T>G (p.Leu335Arg)
11g.72230151_72230160dupCA2573147665INPPL1c.970_979dup (p.Gly327AspfsTer?)
c.244_253dup (p.Gly85AspfsTer?)
c.154_163dup (p.Gly55AspfsTer?)
c.772_781dup (p.Gly261AspfsTer?)
c.1036_1045dup (p.Gly349AspfsTer?)
c.1006_1015dup (p.Gly339AspfsTer?)
 ClinVar dbSNP
11g.72230150G>ACA475865972INPPL1c.969G>A (p.Leu323=)
c.243G>A (p.Leu81=)
c.153G>A (p.Leu51=)
c.771G>A (p.Leu257=)
c.1035G>A (p.Leu345=)
c.1005G>A (p.Leu335=)
11g.72230150G>CCA475865973INPPL1c.969G>C (p.Leu323=)
c.243G>C (p.Leu81=)
c.153G>C (p.Leu51=)
c.771G>C (p.Leu257=)
c.1035G>C (p.Leu345=)
c.1005G>C (p.Leu335=)
11g.72230150G>TCA475865974INPPL1c.969G>T (p.Leu323=)
c.243G>T (p.Leu81=)
c.153G>T (p.Leu51=)
c.771G>T (p.Leu257=)
c.1035G>T (p.Leu345=)
c.1005G>T (p.Leu335=)
 gnomAD v4
11g.72230151A>CCA381723823INPPL1c.970A>C (p.Thr324Pro)
c.244A>C (p.Thr82Pro)
c.154A>C (p.Thr52Pro)
c.772A>C (p.Thr258Pro)
c.1036A>C (p.Thr346Pro)
c.1006A>C (p.Thr336Pro)
11g.72230151A>GCA381723821INPPL1c.970A>G (p.Thr324Ala)
c.244A>G (p.Thr82Ala)
c.154A>G (p.Thr52Ala)
c.772A>G (p.Thr258Ala)
c.1036A>G (p.Thr346Ala)
c.1006A>G (p.Thr336Ala)
11g.72230151A>TCA381723819INPPL1c.970A>T (p.Thr324Ser)
c.244A>T (p.Thr82Ser)
c.154A>T (p.Thr52Ser)
c.772A>T (p.Thr258Ser)
c.1036A>T (p.Thr346Ser)
c.1006A>T (p.Thr336Ser)
11g.72230151_72230152delinsACCA1981897945INPPL1c.970_971delinsAC (p.Thr324=)
c.244_245delinsAC (p.Thr82=)
c.154_155delinsAC (p.Thr52=)
c.772_773delinsAC (p.Thr258=)
c.1036_1037delinsAC (p.Thr346=)
c.1006_1007delinsAC (p.Thr336=)
11g.72230152C>ACA381723825INPPL1c.971C>A (p.Thr324Asn)
c.245C>A (p.Thr82Asn)
c.155C>A (p.Thr52Asn)
c.773C>A (p.Thr258Asn)
c.1037C>A (p.Thr346Asn)
c.1007C>A (p.Thr336Asn)
 gnomAD v4
11g.72230152C>GCA381723830INPPL1c.971C>G (p.Thr324Ser)
c.245C>G (p.Thr82Ser)
c.155C>G (p.Thr52Ser)
c.773C>G (p.Thr258Ser)
c.1037C>G (p.Thr346Ser)
c.1007C>G (p.Thr336Ser)
11g.72230152C>TCA381723827INPPL1c.971C>T (p.Thr324Ile)
c.245C>T (p.Thr82Ile)
c.155C>T (p.Thr52Ile)
c.773C>T (p.Thr258Ile)
c.1037C>T (p.Thr346Ile)
c.1007C>T (p.Thr336Ile)
11g.72230153delCA679976559INPPL1c.972del (p.Lys325ArgfsTer10)
c.246del (p.Lys83ArgfsTer10)
c.156del (p.Lys53ArgfsTer10)
c.774del (p.Lys259ArgfsTer10)
c.1038del (p.Lys347ArgfsTer10)
c.1008del (p.Lys337ArgfsTer10)
 dbSNP gnomAD v3 gnomAD v4
11g.72230153C>ACA475865975INPPL1c.972C>A (p.Thr324=)
c.246C>A (p.Thr82=)
c.156C>A (p.Thr52=)
c.774C>A (p.Thr258=)
c.1038C>A (p.Thr346=)
c.1008C>A (p.Thr336=)
 dbSNP gnomAD v2 gnomAD v4
11g.72230153C=CA1981897946INPPL1c.972C= (p.Thr324=)
c.246C= (p.Thr82=)
c.156C= (p.Thr52=)
c.774C= (p.Thr258=)
c.1038C= (p.Thr346=)
c.1008C= (p.Thr336=)
11g.72230153C>GCA475865976INPPL1c.972C>G (p.Thr324=)
c.246C>G (p.Thr82=)
c.156C>G (p.Thr52=)
c.774C>G (p.Thr258=)
c.1038C>G (p.Thr346=)
c.1008C>G (p.Thr336=)
11g.72230153C>TCA475865977INPPL1c.972C>T (p.Thr324=)
c.246C>T (p.Thr82=)
c.156C>T (p.Thr52=)
c.774C>T (p.Thr258=)
c.1038C>T (p.Thr346=)
c.1008C>T (p.Thr336=)
11g.72230154A>CCA381723840INPPL1c.973A>C (p.Lys325Gln)
c.247A>C (p.Lys83Gln)
c.157A>C (p.Lys53Gln)
c.775A>C (p.Lys259Gln)
c.1039A>C (p.Lys347Gln)
c.1009A>C (p.Lys337Gln)
11g.72230154A>GCA381723842INPPL1c.973A>G (p.Lys325Glu)
c.247A>G (p.Lys83Glu)
c.157A>G (p.Lys53Glu)
c.775A>G (p.Lys259Glu)
c.1039A>G (p.Lys347Glu)
c.1009A>G (p.Lys337Glu)
11g.72230154A>TCA381723841INPPL1c.973A>T (p.Lys325Ter)
c.247A>T (p.Lys83Ter)
c.157A>T (p.Lys53Ter)
c.775A>T (p.Lys259Ter)
c.1039A>T (p.Lys347Ter)
c.1009A>T (p.Lys337Ter)
11g.72230155A>CCA381723845INPPL1c.974A>C (p.Lys325Thr)
c.248A>C (p.Lys83Thr)
c.158A>C (p.Lys53Thr)
c.776A>C (p.Lys259Thr)
c.1040A>C (p.Lys347Thr)
c.1010A>C (p.Lys337Thr)
11g.72230155A>GCA381723847INPPL1c.974A>G (p.Lys325Arg)
c.248A>G (p.Lys83Arg)
c.158A>G (p.Lys53Arg)
c.776A>G (p.Lys259Arg)
c.1040A>G (p.Lys347Arg)
c.1010A>G (p.Lys337Arg)
11g.72230155A>TCA381723846INPPL1c.974A>T (p.Lys325Met)
c.248A>T (p.Lys83Met)
c.158A>T (p.Lys53Met)
c.776A>T (p.Lys259Met)
c.1040A>T (p.Lys347Met)
c.1010A>T (p.Lys337Met)
11g.72230156G>ACA475865978INPPL1c.975G>A (p.Lys325=)
c.249G>A (p.Lys83=)
c.159G>A (p.Lys53=)
c.777G>A (p.Lys259=)
c.1041G>A (p.Lys347=)
c.1011G>A (p.Lys337=)
11g.72230156G>CCA381723849INPPL1c.975G>C (p.Lys325Asn)
c.249G>C (p.Lys83Asn)
c.159G>C (p.Lys53Asn)
c.777G>C (p.Lys259Asn)
c.1041G>C (p.Lys347Asn)
c.1011G>C (p.Lys337Asn)
11g.72230156G>TCA381723851INPPL1c.975G>T (p.Lys325Asn)
c.249G>T (p.Lys83Asn)
c.159G>T (p.Lys53Asn)
c.777G>T (p.Lys259Asn)
c.1041G>T (p.Lys347Asn)
c.1011G>T (p.Lys337Asn)
11g.72230157A>CCA381723852INPPL1c.976A>C (p.Ile326Leu)
c.250A>C (p.Ile84Leu)
c.160A>C (p.Ile54Leu)
c.778A>C (p.Ile260Leu)
c.1042A>C (p.Ile348Leu)
c.1012A>C (p.Ile338Leu)
11g.72230157A>GCA381723856INPPL1c.976A>G (p.Ile326Val)
c.250A>G (p.Ile84Val)
c.160A>G (p.Ile54Val)
c.778A>G (p.Ile260Val)
c.1042A>G (p.Ile348Val)
c.1012A>G (p.Ile338Val)
11g.72230157A>TCA381723858INPPL1c.976A>T (p.Ile326Phe)
c.250A>T (p.Ile84Phe)
c.160A>T (p.Ile54Phe)
c.778A>T (p.Ile260Phe)
c.1042A>T (p.Ile348Phe)
c.1012A>T (p.Ile338Phe)
11g.72230158T>ACA381723881INPPL1c.977T>A (p.Ile326Asn)
c.251T>A (p.Ile84Asn)
c.161T>A (p.Ile54Asn)
c.779T>A (p.Ile260Asn)
c.1043T>A (p.Ile348Asn)
c.1013T>A (p.Ile338Asn)
11g.72230158T>CCA381723889INPPL1c.977T>C (p.Ile326Thr)
c.251T>C (p.Ile84Thr)
c.161T>C (p.Ile54Thr)
c.779T>C (p.Ile260Thr)
c.1043T>C (p.Ile348Thr)
c.1013T>C (p.Ile338Thr)
 gnomAD v4
11g.72230158T>GCA381723893INPPL1c.977T>G (p.Ile326Ser)
c.251T>G (p.Ile84Ser)
c.161T>G (p.Ile54Ser)
c.779T>G (p.Ile260Ser)
c.1043T>G (p.Ile348Ser)
c.1013T>G (p.Ile338Ser)
11g.72230159delCA2614932043INPPL1c.978del (p.Ile326MetfsTer9)
c.252del (p.Ile84MetfsTer9)
c.162del (p.Ile54MetfsTer9)
c.780del (p.Ile260MetfsTer9)
c.1044del (p.Ile348MetfsTer9)
c.1014del (p.Ile338MetfsTer9)
 gnomAD v4
11g.72230159T>ACA475865979INPPL1c.978T>A (p.Ile326=)
c.252T>A (p.Ile84=)
c.162T>A (p.Ile54=)
c.780T>A (p.Ile260=)
c.1044T>A (p.Ile348=)
c.1014T>A (p.Ile338=)
11g.72230159T>CCA475865980INPPL1c.978T>C (p.Ile326=)
c.252T>C (p.Ile84=)
c.162T>C (p.Ile54=)
c.780T>C (p.Ile260=)
c.1044T>C (p.Ile348=)
c.1014T>C (p.Ile338=)
11g.72230159T>GCA381723895INPPL1c.978T>G (p.Ile326Met)
c.252T>G (p.Ile84Met)
c.162T>G (p.Ile54Met)
c.780T>G (p.Ile260Met)
c.1044T>G (p.Ile348Met)
c.1014T>G (p.Ile338Met)
11g.72230160G>ACA381723898INPPL1c.979G>A (p.Gly327Arg)
c.253G>A (p.Gly85Arg)
c.163G>A (p.Gly55Arg)
c.781G>A (p.Gly261Arg)
c.1045G>A (p.Gly349Arg)
c.1015G>A (p.Gly339Arg)
 dbSNP gnomAD v2
11g.72230160G>CCA381723900INPPL1c.979G>C (p.Gly327Arg)
c.253G>C (p.Gly85Arg)
c.163G>C (p.Gly55Arg)
c.781G>C (p.Gly261Arg)
c.1045G>C (p.Gly349Arg)
c.1015G>C (p.Gly339Arg)
11g.72230160G=CA1981897947INPPL1c.979G= (p.Gly327=)
c.253G= (p.Gly85=)
c.163G= (p.Gly55=)
c.781G= (p.Gly261=)
c.1045G= (p.Gly349=)
c.1015G= (p.Gly339=)
11g.72230160G>TCA381723913INPPL1c.979G>T (p.Gly327Trp)
c.253G>T (p.Gly85Trp)
c.163G>T (p.Gly55Trp)
c.781G>T (p.Gly261Trp)
c.1045G>T (p.Gly349Trp)
c.1015G>T (p.Gly339Trp)
11g.72230161G>ACA381723929INPPL1c.980G>A (p.Gly327Glu)
c.254G>A (p.Gly85Glu)
c.164G>A (p.Gly55Glu)
c.782G>A (p.Gly261Glu)
c.1046G>A (p.Gly349Glu)
c.1016G>A (p.Gly339Glu)
 gnomAD v4
11g.72230161G>CCA381723920INPPL1c.980G>C (p.Gly327Ala)
c.254G>C (p.Gly85Ala)
c.164G>C (p.Gly55Ala)
c.782G>C (p.Gly261Ala)
c.1046G>C (p.Gly349Ala)
c.1016G>C (p.Gly339Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.72230161G=CA1981897948INPPL1c.980G= (p.Gly327=)
c.254G= (p.Gly85=)
c.164G= (p.Gly55=)
c.782G= (p.Gly261=)
c.1046G= (p.Gly349=)
c.1016G= (p.Gly339=)
11g.72230161G>TCA381723917INPPL1c.980G>T (p.Gly327Val)
c.254G>T (p.Gly85Val)
c.164G>T (p.Gly55Val)
c.782G>T (p.Gly261Val)
c.1046G>T (p.Gly349Val)
c.1016G>T (p.Gly339Val)
11g.72230162G>ACA475865981INPPL1c.981G>A (p.Gly327=)
c.255G>A (p.Gly85=)
c.165G>A (p.Gly55=)
c.783G>A (p.Gly261=)
c.1047G>A (p.Gly349=)
c.1017G>A (p.Gly339=)
11g.72230162G>CCA475865983INPPL1c.981G>C (p.Gly327=)
c.255G>C (p.Gly85=)
c.165G>C (p.Gly55=)
c.783G>C (p.Gly261=)
c.1047G>C (p.Gly349=)
c.1017G>C (p.Gly339=)
11g.72230162G>TCA475865982INPPL1c.981G>T (p.Gly327=)
c.255G>T (p.Gly85=)
c.165G>T (p.Gly55=)
c.783G>T (p.Gly261=)
c.1047G>T (p.Gly349=)
c.1017G>T (p.Gly339=)
11g.72230163A>CCA381723930INPPL1c.982A>C (p.Lys328Gln)
c.256A>C (p.Lys86Gln)
c.166A>C (p.Lys56Gln)
c.784A>C (p.Lys262Gln)
c.1048A>C (p.Lys350Gln)
c.1018A>C (p.Lys340Gln)
11g.72230163A>GCA381723932INPPL1c.982A>G (p.Lys328Glu)
c.256A>G (p.Lys86Glu)
c.166A>G (p.Lys56Glu)
c.784A>G (p.Lys262Glu)
c.1048A>G (p.Lys350Glu)
c.1018A>G (p.Lys340Glu)
 gnomAD v4
11g.72230163A>TCA381723934INPPL1c.982A>T (p.Lys328Ter)
c.256A>T (p.Lys86Ter)
c.166A>T (p.Lys56Ter)
c.784A>T (p.Lys262Ter)
c.1048A>T (p.Lys350Ter)
c.1018A>T (p.Lys340Ter)
11g.72230164A>CCA381723940INPPL1c.983A>C (p.Lys328Thr)
c.257A>C (p.Lys86Thr)
c.167A>C (p.Lys56Thr)
c.785A>C (p.Lys262Thr)
c.1049A>C (p.Lys350Thr)
c.1019A>C (p.Lys340Thr)
11g.72230164A>GCA381723945INPPL1c.983A>G (p.Lys328Arg)
c.257A>G (p.Lys86Arg)
c.167A>G (p.Lys56Arg)
c.785A>G (p.Lys262Arg)
c.1049A>G (p.Lys350Arg)
c.1019A>G (p.Lys340Arg)
11g.72230164A>TCA381723947INPPL1c.983A>T (p.Lys328Met)
c.257A>T (p.Lys86Met)
c.167A>T (p.Lys56Met)
c.785A>T (p.Lys262Met)
c.1049A>T (p.Lys350Met)
c.1019A>T (p.Lys340Met)
11g.72230165G>ACA475865984INPPL1c.984G>A (p.Lys328=)
c.258G>A (p.Lys86=)
c.168G>A (p.Lys56=)
c.786G>A (p.Lys262=)
c.1050G>A (p.Lys350=)
c.1020G>A (p.Lys340=)
11g.72230165G>CCA381723951INPPL1c.984G>C (p.Lys328Asn)
c.258G>C (p.Lys86Asn)
c.168G>C (p.Lys56Asn)
c.786G>C (p.Lys262Asn)
c.1050G>C (p.Lys350Asn)
c.1020G>C (p.Lys340Asn)
11g.72230165G>TCA381723959INPPL1c.984G>T (p.Lys328Asn)
c.258G>T (p.Lys86Asn)
c.168G>T (p.Lys56Asn)
c.786G>T (p.Lys262Asn)
c.1050G>T (p.Lys350Asn)
c.1020G>T (p.Lys340Asn)
11g.72230166T>ACA381723961INPPL1c.985T>A (p.Ser329Thr)
c.259T>A (p.Ser87Thr)
c.169T>A (p.Ser57Thr)
c.787T>A (p.Ser263Thr)
c.1051T>A (p.Ser351Thr)
c.1021T>A (p.Ser341Thr)
 gnomAD v4
11g.72230166T>CCA381723963INPPL1c.985T>C (p.Ser329Pro)
c.259T>C (p.Ser87Pro)
c.169T>C (p.Ser57Pro)
c.787T>C (p.Ser263Pro)
c.1051T>C (p.Ser351Pro)
c.1021T>C (p.Ser341Pro)
11g.72230166T>GCA381723964INPPL1c.985T>G (p.Ser329Ala)
c.259T>G (p.Ser87Ala)
c.169T>G (p.Ser57Ala)
c.787T>G (p.Ser263Ala)
c.1051T>G (p.Ser351Ala)
c.1021T>G (p.Ser341Ala)
11g.72230167C>ACA381723986INPPL1c.986C>A (p.Ser329Ter)
c.260C>A (p.Ser87Ter)
c.170C>A (p.Ser57Ter)
c.788C>A (p.Ser263Ter)
c.1052C>A (p.Ser351Ter)
c.1022C>A (p.Ser341Ter)
11g.72230167C>GCA381723968INPPL1c.986C>G (p.Ser329Ter)
c.260C>G (p.Ser87Ter)
c.170C>G (p.Ser57Ter)
c.788C>G (p.Ser263Ter)
c.1052C>G (p.Ser351Ter)
c.1022C>G (p.Ser341Ter)
11g.72230167C>TCA381723967INPPL1c.986C>T (p.Ser329Leu)
c.260C>T (p.Ser87Leu)
c.170C>T (p.Ser57Leu)
c.788C>T (p.Ser263Leu)
c.1052C>T (p.Ser351Leu)
c.1022C>T (p.Ser341Leu)
 dbSNP gnomAD v4
11g.72230168A=CA1981897949INPPL1c.987A= (p.Ser329=)
c.261A= (p.Ser87=)
c.171A= (p.Ser57=)
c.789A= (p.Ser263=)
c.1053A= (p.Ser351=)
c.1023A= (p.Ser341=)
11g.72230168A>CCA475865985INPPL1c.987A>C (p.Ser329=)
c.261A>C (p.Ser87=)
c.171A>C (p.Ser57=)
c.789A>C (p.Ser263=)
c.1053A>C (p.Ser351=)
c.1023A>C (p.Ser341=)
11g.72230168A>GCA6169857INPPL1c.987A>G (p.Ser329=)
c.261A>G (p.Ser87=)
c.171A>G (p.Ser57=)
c.789A>G (p.Ser263=)
c.1053A>G (p.Ser351=)
c.1023A>G (p.Ser341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230168A>TCA475865986INPPL1c.987A>T (p.Ser329=)
c.261A>T (p.Ser87=)
c.171A>T (p.Ser57=)
c.789A>T (p.Ser263=)
c.1053A>T (p.Ser351=)
c.1023A>T (p.Ser341=)
 gnomAD v4
11g.72230169C>ACA381723999INPPL1c.988C>A (p.Gln330Lys)
c.262C>A (p.Gln88Lys)
c.172C>A (p.Gln58Lys)
c.790C>A (p.Gln264Lys)
c.1054C>A (p.Gln352Lys)
c.1024C>A (p.Gln342Lys)
11g.72230169C>GCA381724001INPPL1c.988C>G (p.Gln330Glu)
c.262C>G (p.Gln88Glu)
c.172C>G (p.Gln58Glu)
c.790C>G (p.Gln264Glu)
c.1054C>G (p.Gln352Glu)
c.1024C>G (p.Gln342Glu)
11g.72230169C>TCA381724005INPPL1c.988C>T (p.Gln330Ter)
c.262C>T (p.Gln88Ter)
c.172C>T (p.Gln58Ter)
c.790C>T (p.Gln264Ter)
c.1054C>T (p.Gln352Ter)
c.1024C>T (p.Gln342Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.72230170delCA2614932049INPPL1c.989del (p.Gln330ArgfsTer5)
c.263del (p.Gln88ArgfsTer5)
c.173del (p.Gln58ArgfsTer5)
c.791del (p.Gln264ArgfsTer5)
c.1055del (p.Gln352ArgfsTer5)
c.1025del (p.Gln342ArgfsTer5)
 gnomAD v4
11g.72230170A>CCA381724006INPPL1c.989A>C (p.Gln330Pro)
c.263A>C (p.Gln88Pro)
c.173A>C (p.Gln58Pro)
c.791A>C (p.Gln264Pro)
c.1055A>C (p.Gln352Pro)
c.1025A>C (p.Gln342Pro)
11g.72230170A>GCA381724007INPPL1c.989A>G (p.Gln330Arg)
c.263A>G (p.Gln88Arg)
c.173A>G (p.Gln58Arg)
c.791A>G (p.Gln264Arg)
c.1055A>G (p.Gln352Arg)
c.1025A>G (p.Gln342Arg)
11g.72230170A>TCA381724008INPPL1c.989A>T (p.Gln330Leu)
c.263A>T (p.Gln88Leu)
c.173A>T (p.Gln58Leu)
c.791A>T (p.Gln264Leu)
c.1055A>T (p.Gln352Leu)
c.1025A>T (p.Gln342Leu)
11g.72230171G>ACA224375877INPPL1c.990G>A (p.Gln330=)
c.264G>A (p.Gln88=)
c.174G>A (p.Gln58=)
c.792G>A (p.Gln264=)
c.1056G>A (p.Gln352=)
c.1026G>A (p.Gln342=)
 dbSNP gnomAD v4
11g.72230171G>CCA381724013INPPL1c.990G>C (p.Gln330His)
c.264G>C (p.Gln88His)
c.174G>C (p.Gln58His)
c.792G>C (p.Gln264His)
c.1056G>C (p.Gln352His)
c.1026G>C (p.Gln342His)
11g.72230171G=CA1981897950INPPL1c.990G= (p.Gln330=)
c.264G= (p.Gln88=)
c.174G= (p.Gln58=)
c.792G= (p.Gln264=)
c.1056G= (p.Gln352=)
c.1026G= (p.Gln342=)
11g.72230171G>TCA381724014INPPL1c.990G>T (p.Gln330His)
c.264G>T (p.Gln88His)
c.174G>T (p.Gln58His)
c.792G>T (p.Gln264His)
c.1056G>T (p.Gln352His)
c.1026G>T (p.Gln342His)
11g.72230172A>CCA381724016INPPL1c.991A>C (p.Lys331Gln)
c.265A>C (p.Lys89Gln)
c.175A>C (p.Lys59Gln)
c.793A>C (p.Lys265Gln)
c.1057A>C (p.Lys353Gln)
c.1027A>C (p.Lys343Gln)
11g.72230172A>GCA381724019INPPL1c.991A>G (p.Lys331Glu)
c.265A>G (p.Lys89Glu)
c.175A>G (p.Lys59Glu)
c.793A>G (p.Lys265Glu)
c.1057A>G (p.Lys353Glu)
c.1027A>G (p.Lys343Glu)
11g.72230172A>TCA381724027INPPL1c.991A>T (p.Lys331Ter)
c.265A>T (p.Lys89Ter)
c.175A>T (p.Lys59Ter)
c.793A>T (p.Lys265Ter)
c.1057A>T (p.Lys353Ter)
c.1027A>T (p.Lys343Ter)
11g.72230173A>CCA381724036INPPL1c.992A>C (p.Lys331Thr)
c.266A>C (p.Lys89Thr)
c.176A>C (p.Lys59Thr)
c.794A>C (p.Lys265Thr)
c.1058A>C (p.Lys353Thr)
c.1028A>C (p.Lys343Thr)
 gnomAD v4
11g.72230173A>GCA381724042INPPL1c.992A>G (p.Lys331Arg)
c.266A>G (p.Lys89Arg)
c.176A>G (p.Lys59Arg)
c.794A>G (p.Lys265Arg)
c.1058A>G (p.Lys353Arg)
c.1028A>G (p.Lys343Arg)
11g.72230173A>TCA381724041INPPL1c.992A>T (p.Lys331Met)
c.266A>T (p.Lys89Met)
c.176A>T (p.Lys59Met)
c.794A>T (p.Lys265Met)
c.1058A>T (p.Lys353Met)
c.1028A>T (p.Lys343Met)
11g.72230174G>ACA475865987INPPL1c.993G>A (p.Lys331=)
c.267G>A (p.Lys89=)
c.177G>A (p.Lys59=)
c.795G>A (p.Lys265=)
c.1059G>A (p.Lys353=)
c.1029G>A (p.Lys343=)
11g.72230174G>CCA381724045INPPL1c.993G>C (p.Lys331Asn)
c.267G>C (p.Lys89Asn)
c.177G>C (p.Lys59Asn)
c.795G>C (p.Lys265Asn)
c.1059G>C (p.Lys353Asn)
c.1029G>C (p.Lys343Asn)
11g.72230174G>TCA381724047INPPL1c.993G>T (p.Lys331Asn)
c.267G>T (p.Lys89Asn)
c.177G>T (p.Lys59Asn)
c.795G>T (p.Lys265Asn)
c.1059G>T (p.Lys353Asn)
c.1029G>T (p.Lys343Asn)
11g.72230175T>ACA381724053INPPL1c.994T>A (p.Phe332Ile)
c.268T>A (p.Phe90Ile)
c.178T>A (p.Phe60Ile)
c.796T>A (p.Phe266Ile)
c.1060T>A (p.Phe354Ile)
c.1030T>A (p.Phe344Ile)
11g.72230175T>CCA381724055INPPL1c.994T>C (p.Phe332Leu)
c.268T>C (p.Phe90Leu)
c.178T>C (p.Phe60Leu)
c.796T>C (p.Phe266Leu)
c.1060T>C (p.Phe354Leu)
c.1030T>C (p.Phe344Leu)
11g.72230175T>GCA381724061INPPL1c.994T>G (p.Phe332Val)
c.268T>G (p.Phe90Val)
c.178T>G (p.Phe60Val)
c.796T>G (p.Phe266Val)
c.1060T>G (p.Phe354Val)
c.1030T>G (p.Phe344Val)
 gnomAD v4
11g.72230176T>ACA381724065INPPL1c.995T>A (p.Phe332Tyr)
c.269T>A (p.Phe90Tyr)
c.179T>A (p.Phe60Tyr)
c.797T>A (p.Phe266Tyr)
c.1061T>A (p.Phe354Tyr)
c.1031T>A (p.Phe344Tyr)
11g.72230176T>CCA381724072INPPL1c.995T>C (p.Phe332Ser)
c.269T>C (p.Phe90Ser)
c.179T>C (p.Phe60Ser)
c.797T>C (p.Phe266Ser)
c.1061T>C (p.Phe354Ser)
c.1031T>C (p.Phe344Ser)
11g.72230176T>GCA381724073INPPL1c.995T>G (p.Phe332Cys)
c.269T>G (p.Phe90Cys)
c.179T>G (p.Phe60Cys)
c.797T>G (p.Phe266Cys)
c.1061T>G (p.Phe354Cys)
c.1031T>G (p.Phe344Cys)
11g.72230177C>ACA381724079INPPL1c.996C>A (p.Phe332Leu)
c.270C>A (p.Phe90Leu)
c.180C>A (p.Phe60Leu)
c.798C>A (p.Phe266Leu)
c.1062C>A (p.Phe354Leu)
c.1032C>A (p.Phe344Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.72230177C=CA1981897951INPPL1c.996C= (p.Phe332=)
c.270C= (p.Phe90=)
c.180C= (p.Phe60=)
c.798C= (p.Phe266=)
c.1062C= (p.Phe354=)
c.1032C= (p.Phe344=)
11g.72230177C>GCA381724085INPPL1c.996C>G (p.Phe332Leu)
c.270C>G (p.Phe90Leu)
c.180C>G (p.Phe60Leu)
c.798C>G (p.Phe266Leu)
c.1062C>G (p.Phe354Leu)
c.1032C>G (p.Phe344Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72230177C>TCA475865988INPPL1c.996C>T (p.Phe332=)
c.270C>T (p.Phe90=)
c.180C>T (p.Phe60=)
c.798C>T (p.Phe266=)
c.1062C>T (p.Phe354=)
c.1032C>T (p.Phe344=)
11g.72230177_72230182delinsGATGTGCA2580084853INPPL1c.996_1001delinsGATGTG (p.Phe332_Leu334delinsLeuMetTrp)
c.270_275delinsGATGTG (p.Phe90_Leu92delinsLeuMetTrp)
c.180_185delinsGATGTG (p.Phe60_Leu62delinsLeuMetTrp)
c.798_803delinsGATGTG (p.Phe266_Leu268delinsLeuMetTrp)
c.1062_1067delinsGATGTG (p.Phe354_Leu356delinsLeuMetTrp)
c.1032_1037delinsGATGTG (p.Phe344_Leu346delinsLeuMetTrp)
 ClinVar
11g.72230178A>CCA381724091INPPL1c.997A>C (p.Thr333Pro)
c.271A>C (p.Thr91Pro)
c.181A>C (p.Thr61Pro)
c.799A>C (p.Thr267Pro)
c.1063A>C (p.Thr355Pro)
c.1033A>C (p.Thr345Pro)
11g.72230178A>GCA381724092INPPL1c.997A>G (p.Thr333Ala)
c.271A>G (p.Thr91Ala)
c.181A>G (p.Thr61Ala)
c.799A>G (p.Thr267Ala)
c.1063A>G (p.Thr355Ala)
c.1033A>G (p.Thr345Ala)
11g.72230178A>TCA381724090INPPL1c.997A>T (p.Thr333Ser)
c.271A>T (p.Thr91Ser)
c.181A>T (p.Thr61Ser)
c.799A>T (p.Thr267Ser)
c.1063A>T (p.Thr355Ser)
c.1033A>T (p.Thr345Ser)
11g.72230179C>ACA381724098INPPL1c.998C>A (p.Thr333Lys)
c.272C>A (p.Thr91Lys)
c.182C>A (p.Thr61Lys)
c.800C>A (p.Thr267Lys)
c.1064C>A (p.Thr355Lys)
c.1034C>A (p.Thr345Lys)
11g.72230179C=CA1981897952INPPL1c.998C= (p.Thr333=)
c.272C= (p.Thr91=)
c.182C= (p.Thr61=)
c.800C= (p.Thr267=)
c.1064C= (p.Thr355=)
c.1034C= (p.Thr345=)
11g.72230179C>GCA381724093INPPL1c.998C>G (p.Thr333Arg)
c.272C>G (p.Thr91Arg)
c.182C>G (p.Thr61Arg)
c.800C>G (p.Thr267Arg)
c.1064C>G (p.Thr355Arg)
c.1034C>G (p.Thr345Arg)
11g.72230179C>TCA6169858INPPL1c.998C>T (p.Thr333Met)
c.272C>T (p.Thr91Met)
c.182C>T (p.Thr61Met)
c.800C>T (p.Thr267Met)
c.1064C>T (p.Thr355Met)
c.1034C>T (p.Thr345Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72230180G>ACA6169859INPPL1c.999G>A (p.Thr333=)
c.273G>A (p.Thr91=)
c.183G>A (p.Thr61=)
c.801G>A (p.Thr267=)
c.1065G>A (p.Thr355=)
c.1035G>A (p.Thr345=)
 dbSNP ExAC gnomAD v4
11g.72230180G>CCA475865989INPPL1c.999G>C (p.Thr333=)
c.273G>C (p.Thr91=)
c.183G>C (p.Thr61=)
c.801G>C (p.Thr267=)
c.1065G>C (p.Thr355=)
c.1035G>C (p.Thr345=)
11g.72230180G=CA1981897953INPPL1c.999G= (p.Thr333=)
c.273G= (p.Thr91=)
c.183G= (p.Thr61=)
c.801G= (p.Thr267=)
c.1065G= (p.Thr355=)
c.1035G= (p.Thr345=)
11g.72230180G>TCA475865990INPPL1c.999G>T (p.Thr333=)
c.273G>T (p.Thr91=)
c.183G>T (p.Thr61=)
c.801G>T (p.Thr267=)
c.1065G>T (p.Thr355=)
c.1035G>T (p.Thr345=)
11g.72230181C>ACA381724106INPPL1c.1000C>A (p.Leu334Met)
c.274C>A (p.Leu92Met)
c.184C>A (p.Leu62Met)
c.802C>A (p.Leu268Met)
c.1066C>A (p.Leu356Met)
c.1036C>A (p.Leu346Met)
11g.72230181C=CA1981897954INPPL1c.1000C= (p.Leu334=)
c.274C= (p.Leu92=)
c.184C= (p.Leu62=)
c.802C= (p.Leu268=)
c.1066C= (p.Leu356=)
c.1036C= (p.Leu346=)
11g.72230181C>GCA381724115INPPL1c.1000C>G (p.Leu334Val)
c.274C>G (p.Leu92Val)
c.184C>G (p.Leu62Val)
c.802C>G (p.Leu268Val)
c.1066C>G (p.Leu356Val)
c.1036C>G (p.Leu346Val)
11g.72230181C>TCA475865991INPPL1c.1000C>T (p.Leu334=)
c.274C>T (p.Leu92=)
c.184C>T (p.Leu62=)
c.802C>T (p.Leu268=)
c.1066C>T (p.Leu356=)
c.1036C>T (p.Leu346=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched