Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.65240082T>ACA691029080LEMD3c.2023+52T>A (n.2023+52T>A)
c.2020+52T>A (n.2020+52T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.65240082T=CA2042446764LEMD3c.2023+52T= (n.2023+52T=)
c.2020+52T= (n.2020+52T=)
12g.65240086C>ACA2619669588LEMD3c.2024-50C>A (n.2024-50C>A)
c.2021-50C>A (n.2021-50C>A)
 gnomAD v4
12g.65240086C=CA2042446768LEMD3c.2024-50C= (n.2024-50C=)
c.2021-50C= (n.2021-50C=)
12g.65240086C>TCA6671103LEMD3c.2024-50C>T (n.2024-50C>T)
c.2021-50C>T (n.2021-50C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240087T>ACA6671104LEMD3c.2024-49T>A (n.2024-49T>A)
c.2021-49T>A (n.2021-49T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240087T>CCA691029086LEMD3c.2024-49T>C (n.2024-49T>C)
c.2021-49T>C (n.2021-49T>C)
 dbSNP
12g.65240087T=CA2042446773LEMD3c.2024-49T= (n.2024-49T=)
c.2021-49T= (n.2021-49T=)
12g.65240088A>GCA2619669589LEMD3c.2024-48A>G (n.2024-48A>G)
c.2021-48A>G (n.2021-48A>G)
 gnomAD v4
12g.65240089C>ACA2619669590LEMD3c.2024-47C>A (n.2024-47C>A)
c.2021-47C>A (n.2021-47C>A)
 gnomAD v4
12g.65240089C=CA2042446777LEMD3c.2024-47C= (n.2024-47C=)
c.2021-47C= (n.2021-47C=)
12g.65240089C>TCA691029087LEMD3c.2024-47C>T (n.2024-47C>T)
c.2021-47C>T (n.2021-47C>T)
 dbSNP
12g.65240090A=CA2042446780LEMD3c.2024-46A= (n.2024-46A=)
c.2021-46A= (n.2021-46A=)
12g.65240090_65240091insCCCA6671105LEMD3c.2024-46_2024-45insCC (n.2024-46_2024-45insCC)
c.2021-46_2021-45insCC (n.2021-46_2021-45insCC)
 dbSNP ExAC gnomAD v2
12g.65240090_65240091insCCTGCA2839662965LEMD3c.2024-46_2024-45insCCTG (n.2024-46_2024-45insCCTG)
c.2021-46_2021-45insCCTG (n.2021-46_2021-45insCCTG)
12g.65240090_65240091insCCTGTAATATTAATATACCA2741264094LEMD3c.2024-46_2024-45insCCTGTAATATTAATATAC (n.2024-46_2024-45insCCTGTAATATTAATATAC)
c.2021-46_2021-45insCCTGTAATATTAATATAC (n.2021-46_2021-45insCCTGTAATATTAATATAC)
12g.65240090_65240091insCCTGTAATATTAATATACTCA605710033LEMD3c.2024-46_2024-45insCCTGTAATATTAATATACT (n.2024-46_2024-45insCCTGTAATATTAATATACT)
c.2021-46_2021-45insCCTGTAATATTAATATACT (n.2021-46_2021-45insCCTGTAATATTAATATACT)
 gnomAD v2
12g.65240090_65240091insCCTGTAATATTAATATACTTTGTATCA605710034LEMD3c.2024-46_2024-45insCCTGTAATATTAATATACTTTGTAT (n.2024-46_2024-45insCCTGTAATATTAATATACTTTGTAT)
c.2021-46_2021-45insCCTGTAATATTAATATACTTTGTAT (n.2021-46_2021-45insCCTGTAATATTAATATACTTTGTAT)
 gnomAD v2
12g.65240091T=CA2042446783LEMD3c.2024-45T= (n.2024-45T=)
c.2021-45T= (n.2021-45T=)
12g.65240091_65240092insGCA2841515525LEMD3c.2024-45_2024-44insG (n.2024-45_2024-44insG)
c.2021-45_2021-44insG (n.2021-45_2021-44insG)
12g.65240091_65240092insGTAATATTAACA605710035LEMD3c.2024-45_2024-44insGTAATATTAA (n.2024-45_2024-44insGTAATATTAA)
c.2021-45_2021-44insGTAATATTAA (n.2021-45_2021-44insGTAATATTAA)
 gnomAD v2
12g.65240091_65240092insGTAATATTAATACA605710036LEMD3c.2024-45_2024-44insGTAATATTAATA (n.2024-45_2024-44insGTAATATTAATA)
c.2021-45_2021-44insGTAATATTAATA (n.2021-45_2021-44insGTAATATTAATA)
 gnomAD v2
12g.65240091_65240092insGTAATATTAATATACTTTGCA919107529LEMD3c.2024-45_2024-44insGTAATATTAATATACTTTG (n.2024-45_2024-44insGTAATATTAATATACTTTG)
c.2021-45_2021-44insGTAATATTAATATACTTTG (n.2021-45_2021-44insGTAATATTAATATACTTTG)
 dbSNP
12g.65240092T>ACA2575215412LEMD3c.2024-44T>A (n.2024-44T>A)
c.2021-44T>A (n.2021-44T>A)
12g.65240093A>GCA2619669591LEMD3c.2024-43A>G (n.2024-43A>G)
c.2021-43A>G (n.2021-43A>G)
 gnomAD v4
12g.65240094T>CCA2619669592LEMD3c.2024-42T>C (n.2024-42T>C)
c.2021-42T>C (n.2021-42T>C)
 gnomAD v4
12g.65240097C>ACA2619669593LEMD3c.2024-39C>A (n.2024-39C>A)
c.2021-39C>A (n.2021-39C>A)
 gnomAD v4
12g.65240098_65240101delCA2619669594LEMD3c.2024-38_2024-35del (n.2024-38_2024-35del)
c.2021-38_2021-35del (n.2021-38_2021-35del)
 gnomAD v4
12g.65240099A=CA2042446788LEMD3c.2024-37A= (n.2024-37A=)
c.2021-37A= (n.2021-37A=)
12g.65240099A>GCA238915178LEMD3c.2024-37A>G (n.2024-37A>G)
c.2021-37A>G (n.2021-37A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.65240100_65240103delCA2726559225LEMD3c.2024-36_2024-33del (n.2024-36_2024-33del)
c.2021-36_2021-33del (n.2021-36_2021-33del)
 dbSNP
12g.65240100G>ACA2619669595LEMD3c.2024-36G>A (n.2024-36G>A)
c.2021-36G>A (n.2021-36G>A)
 gnomAD v4
12g.65240100G=CA2742040771LEMD3c.2024-36G= (n.2024-36G=)
c.2021-36G= (n.2021-36G=)
12g.65240100_65240104delCA655048146LEMD3c.2024-36_2024-32del (n.2024-36_2024-32del)
c.2021-36_2021-32del (n.2021-36_2021-32del)
 COSMIC
12g.65240100_65240104delinsGTGATCA2042446792LEMD3c.2024-36_2024-32delinsGTGAT (n.2024-36_2024-32delinsGTGAT)
c.2021-36_2021-32delinsGTGAT (n.2021-36_2021-32delinsGTGAT)
12g.65240106_65240109dupCA2726352965LEMD3c.2024-30_2024-27dup (n.2024-30_2024-27dup)
c.2021-30_2021-27dup (n.2021-30_2021-27dup)
 dbSNP
12g.65240106_65240109delCA6671106LEMD3c.2024-30_2024-27del (n.2024-30_2024-27del)
c.2021-30_2021-27del (n.2021-30_2021-27del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240102delCA2619669596LEMD3c.2024-34del (n.2024-34del)
c.2021-34del (n.2021-34del)
 gnomAD v4
12g.65240102G=CA2042446798LEMD3c.2024-34G= (n.2024-34G=)
c.2021-34G= (n.2021-34G=)
12g.65240102G>TCA6671107LEMD3c.2024-34G>T (n.2024-34G>T)
c.2021-34G>T (n.2021-34G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240102_65240103delCA2548682440LEMD3c.2024-34_2024-33del (n.2024-34_2024-33del)
c.2021-34_2021-33del (n.2021-34_2021-33del)
12g.65240103_65240104delCA2619669597LEMD3c.2024-33_2024-32del (n.2024-33_2024-32del)
c.2021-33_2021-32del (n.2021-33_2021-32del)
 gnomAD v4
12g.65240104T>GCA238915179LEMD3c.2024-32T>G (n.2024-32T>G)
c.2021-32T>G (n.2021-32T>G)
 dbSNP gnomAD v4
12g.65240104T=CA2042446803LEMD3c.2024-32T= (n.2024-32T=)
c.2021-32T= (n.2021-32T=)
12g.65240104_65240105delCA2619669599LEMD3c.2024-32_2024-31del (n.2024-32_2024-31del)
c.2021-32_2021-31del (n.2021-32_2021-31del)
 gnomAD v4
12g.65240105delCA2619669598LEMD3c.2024-31del (n.2024-31del)
c.2021-31del (n.2021-31del)
 gnomAD v4
12g.65240104_65240106delCA2619669600LEMD3c.2024-32_2024-30del (n.2024-32_2024-30del)
c.2021-32_2021-30del (n.2021-32_2021-30del)
 gnomAD v4
12g.65240105T>GCA605710037LEMD3c.2024-31T>G (n.2024-31T>G)
c.2021-31T>G (n.2021-31T>G)
 dbSNP gnomAD v2 gnomAD v4
12g.65240105T=CA2042446811LEMD3c.2024-31T= (n.2024-31T=)
c.2021-31T= (n.2021-31T=)
12g.65240105_65240106delCA2527067470LEMD3c.2024-31_2024-30del (n.2024-31_2024-30del)
c.2021-31_2021-30del (n.2021-31_2021-30del)
 gnomAD v4
12g.65240106_65240108dupCA919107530LEMD3c.2024-30_2024-28dup (n.2024-30_2024-28dup)
c.2021-30_2021-28dup (n.2021-30_2021-28dup)
 dbSNP
12g.65240106G>ACA2619669601LEMD3c.2024-30G>A (n.2024-30G>A)
c.2021-30G>A (n.2021-30G>A)
 gnomAD v4
12g.65240106G>CCA6671108LEMD3c.2024-30G>C (n.2024-30G>C)
c.2021-30G>C (n.2021-30G>C)
 dbSNP ExAC COSMIC COSMIC
12g.65240106G=CA2042446822LEMD3c.2024-30G= (n.2024-30G=)
c.2021-30G= (n.2021-30G=)
12g.65240107_65240108delinsATCA2042446823LEMD3c.2024-29_2024-28delinsAT (n.2024-29_2024-28delinsAT)
c.2021-29_2021-28delinsAT (n.2021-29_2021-28delinsAT)
12g.65240107_65240109delCA2619669602LEMD3c.2024-29_2024-27del (n.2024-29_2024-27del)
c.2021-29_2021-27del (n.2021-29_2021-27del)
 gnomAD v4
12g.65240110_65240113delCA2619669603LEMD3c.2024-26_2024-23del (n.2024-26_2024-23del)
c.2021-26_2021-23del (n.2021-26_2021-23del)
 gnomAD v4
12g.65240108T>CCA2619669604LEMD3c.2024-28T>C (n.2024-28T>C)
c.2021-28T>C (n.2021-28T>C)
 gnomAD v4
12g.65240109delCA919107531LEMD3c.2024-27del (n.2024-27del)
c.2021-27del (n.2021-27del)
 dbSNP
12g.65240109_65240110delinsTCCA2042446826LEMD3c.2024-27_2024-26delinsTC (n.2024-27_2024-26delinsTC)
c.2021-27_2021-26delinsTC (n.2021-27_2021-26delinsTC)
12g.65240110delCA6671109LEMD3c.2024-26del (n.2024-26del)
c.2021-26del (n.2021-26del)
 dbSNP ExAC gnomAD v2
12g.65240110C>ACA2575215413LEMD3c.2024-26C>A (n.2024-26C>A)
c.2021-26C>A (n.2021-26C>A)
 gnomAD v4
12g.65240110C=CA2042446829LEMD3c.2024-26C= (n.2024-26C=)
c.2021-26C= (n.2021-26C=)
12g.65240110C>GCA6671110LEMD3c.2024-26C>G (n.2024-26C>G)
c.2021-26C>G (n.2021-26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240111A=CA2042446832LEMD3c.2024-25A= (n.2024-25A=)
c.2021-25A= (n.2021-25A=)
12g.65240111A>CCA2575215414LEMD3c.2024-25A>C (n.2024-25A>C)
c.2021-25A>C (n.2021-25A>C)
12g.65240111A>GCA6671111LEMD3c.2024-25A>G (n.2024-25A>G)
c.2021-25A>G (n.2021-25A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240111A>TCA2042446836LEMD3c.2024-25A>T (n.2024-25A>T)
c.2021-25A>T (n.2021-25A>T)
 dbSNP
12g.65240111_65240112delinsATCA2042446838LEMD3c.2024-25_2024-24delinsAT (n.2024-25_2024-24delinsAT)
c.2021-25_2021-24delinsAT (n.2021-25_2021-24delinsAT)
12g.65240112T>CCA2619669605LEMD3c.2024-24T>C (n.2024-24T>C)
c.2021-24T>C (n.2021-24T>C)
 gnomAD v4
12g.65240114delCA948623721LEMD3c.2024-22del (n.2024-22del)
c.2021-22del (n.2021-22del)
 dbSNP gnomAD v3 gnomAD v4
12g.65240115G=CA2042446842LEMD3c.2024-21G= (n.2024-21G=)
c.2021-21G= (n.2021-21G=)
12g.65240115G>TCA238915180LEMD3c.2024-21G>T (n.2024-21G>T)
c.2021-21G>T (n.2021-21G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.65240118A>CCA2619669606LEMD3c.2024-18A>C (n.2024-18A>C)
c.2021-18A>C (n.2021-18A>C)
 gnomAD v4
12g.65240119A=CA2042446845LEMD3c.2024-17A= (n.2024-17A=)
c.2021-17A= (n.2021-17A=)
12g.65240119A>CCA2042446847LEMD3c.2024-17A>C (n.2024-17A>C)
c.2021-17A>C (n.2021-17A>C)
 dbSNP
12g.65240122T>CCA6671112LEMD3c.2024-14T>C (n.2024-14T>C)
c.2021-14T>C (n.2021-14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240122T>GCA2042446852LEMD3c.2024-14T>G (n.2024-14T>G)
c.2021-14T>G (n.2021-14T>G)
 dbSNP
12g.65240122T=CA2042446850LEMD3c.2024-14T= (n.2024-14T=)
c.2021-14T= (n.2021-14T=)
12g.65240124A=CA2042446855LEMD3c.2024-12A= (n.2024-12A=)
c.2021-12A= (n.2021-12A=)
12g.65240124A>GCA6671113LEMD3c.2024-12A>G (n.2024-12A>G)
c.2021-12A>G (n.2021-12A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240125T>CCA2575215415LEMD3c.2024-11T>C (n.2024-11T>C)
c.2021-11T>C (n.2021-11T>C)
12g.65240128_65240132delCA2619669607LEMD3c.2024-8_2024-4del (n.2024-8_2024-4del)
c.2021-8_2021-4del (n.2021-8_2021-4del)
 gnomAD v4
12g.65240126T>GCA2042446859LEMD3c.2024-10T>G (n.2024-10T>G)
c.2021-10T>G (n.2021-10T>G)
 dbSNP
12g.65240126T=CA2042446858LEMD3c.2024-10T= (n.2024-10T=)
c.2021-10T= (n.2021-10T=)
12g.65240129T>CCA2619669609LEMD3c.2024-7T>C (n.2024-7T>C)
c.2021-7T>C (n.2021-7T>C)
 gnomAD v4
12g.65240133delCA2575215416LEMD3c.2024-3del (n.2024-3del)
c.2021-3del (n.2021-3del)
12g.65240132_65240133delCA2619669608LEMD3c.2024-4_2024-3del (n.2024-4_2024-3del)
c.2021-4_2021-3del (n.2021-4_2021-3del)
 gnomAD v4
12g.65240134A>CCA385672149LEMD3c.2024-2A>C (n.2024-2A>C)
c.2021-2A>C (n.2021-2A>C)
12g.65240134A>GCA385672152LEMD3c.2024-2A>G (n.2024-2A>G)
c.2021-2A>G (n.2021-2A>G)
 ClinVar dbSNP gnomAD v4
12g.65240134A>TCA385672151LEMD3c.2024-2A>T (n.2024-2A>T)
c.2021-2A>T (n.2021-2A>T)
 gnomAD v4
12g.65240135G>ACA385672155LEMD3c.2024-1G>A (n.2024-1G>A)
c.2021-1G>A (n.2021-1G>A)
12g.65240135G>CCA385672156LEMD3c.2024-1G>C (n.2024-1G>C)
c.2021-1G>C (n.2021-1G>C)
 COSMIC
12g.65240135G>TCA385672158LEMD3c.2024-1G>T (n.2024-1G>T)
c.2021-1G>T (n.2021-1G>T)
12g.65240136A>CCA385672160LEMD3c.2024A>C (p.Asp675Ala)
c.2021A>C (p.Asp674Ala)
12g.65240136A>GCA385672161LEMD3c.2024A>G (p.Asp675Gly)
c.2021A>G (p.Asp674Gly)
12g.65240136A>TCA385672163LEMD3c.2024A>T (p.Asp675Val)
c.2021A>T (p.Asp674Val)
12g.65240137T>ACA385672164LEMD3c.2025T>A (p.Asp675Glu)
c.2022T>A (p.Asp674Glu)
12g.65240137T>CCA480666269LEMD3c.2025T>C (p.Asp675=)
c.2022T>C (p.Asp674=)
12g.65240137T>GCA385672166LEMD3c.2025T>G (p.Asp675Glu)
c.2022T>G (p.Asp674Glu)
12g.65240138G>ACA6671114LEMD3c.2026G>A (p.Val676Ile)
c.2023G>A (p.Val675Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240138G>CCA385672168LEMD3c.2026G>C (p.Val676Leu)
c.2023G>C (p.Val675Leu)
12g.65240138G=CA2042446862LEMD3c.2026G= (p.Val676=)
c.2023G= (p.Val675=)
12g.65240138G>TCA385672169LEMD3c.2026G>T (p.Val676Phe)
c.2023G>T (p.Val675Phe)
12g.65240139T>ACA385672170LEMD3c.2027T>A (p.Val676Asp)
c.2024T>A (p.Val675Asp)
12g.65240139T>CCA6671115LEMD3c.2027T>C (p.Val676Ala)
c.2024T>C (p.Val675Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.65240139T>GCA385672171LEMD3c.2027T>G (p.Val676Gly)
c.2024T>G (p.Val675Gly)
12g.65240139T=CA2042446865LEMD3c.2027T= (p.Val676=)
c.2024T= (p.Val675=)
12g.65240140T>ACA480666270LEMD3c.2028T>A (p.Val676=)
c.2025T>A (p.Val675=)
12g.65240140T>CCA480666271LEMD3c.2028T>C (p.Val676=)
c.2025T>C (p.Val675=)
12g.65240140T>GCA480666272LEMD3c.2028T>G (p.Val676=)
c.2025T>G (p.Val675=)
12g.65240141T>ACA385672172LEMD3c.2029T>A (p.Leu677Ile)
c.2026T>A (p.Leu676Ile)
12g.65240141T>CCA480666273LEMD3c.2029T>C (p.Leu677=)
c.2026T>C (p.Leu676=)
12g.65240141T>GCA385672173LEMD3c.2029T>G (p.Leu677Val)
c.2026T>G (p.Leu676Val)
12g.65240142T>ACA385672175LEMD3c.2030T>A (p.Leu677Ter)
c.2027T>A (p.Leu676Ter)
12g.65240142T>CCA385672176LEMD3c.2030T>C (p.Leu677Ser)
c.2027T>C (p.Leu676Ser)
12g.65240142T>GCA385672177LEMD3c.2030T>G (p.Leu677Ter)
c.2027T>G (p.Leu676Ter)
12g.65240143A=CA2042446867LEMD3c.2031A= (p.Leu677=)
c.2028A= (p.Leu676=)
12g.65240143A>CCA385672179LEMD3c.2031A>C (p.Leu677Phe)
c.2028A>C (p.Leu676Phe)
12g.65240143A>GCA6671116LEMD3c.2031A>G (p.Leu677=)
c.2028A>G (p.Leu676=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240143A>TCA385672180LEMD3c.2031A>T (p.Leu677Phe)
c.2028A>T (p.Leu676Phe)
12g.65240144C>ACA480666274LEMD3c.2032C>A (p.Arg678=)
c.2029C>A (p.Arg677=)
12g.65240144C>GCA385672182LEMD3c.2032C>G (p.Arg678Gly)
c.2029C>G (p.Arg677Gly)
12g.65240144C>TCA385672183LEMD3c.2032C>T (p.Arg678Ter)
c.2029C>T (p.Arg677Ter)
 ClinVar dbSNP gnomAD v4
12g.65240145G>ACA6671118LEMD3c.2033G>A (p.Arg678Gln)
c.2030G>A (p.Arg677Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240145G>CCA6671117LEMD3c.2033G>C (p.Arg678Pro)
c.2030G>C (p.Arg677Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240145G=CA2042446873LEMD3c.2033G= (p.Arg678=)
c.2030G= (p.Arg677=)
12g.65240145G>TCA385672186LEMD3c.2033G>T (p.Arg678Leu)
c.2030G>T (p.Arg677Leu)
12g.65240146A>CCA480666275LEMD3c.2034A>C (p.Arg678=)
c.2031A>C (p.Arg677=)
12g.65240146A>GCA480666276LEMD3c.2034A>G (p.Arg678=)
c.2031A>G (p.Arg677=)
12g.65240146A>TCA480666277LEMD3c.2034A>T (p.Arg678=)
c.2031A>T (p.Arg677=)
12g.65240147A>CCA385672191LEMD3c.2035A>C (p.Ser679Arg)
c.2032A>C (p.Ser678Arg)
12g.65240147A>GCA385672188LEMD3c.2035A>G (p.Ser679Gly)
c.2032A>G (p.Ser678Gly)
12g.65240147A>TCA385672190LEMD3c.2035A>T (p.Ser679Cys)
c.2032A>T (p.Ser678Cys)
12g.65240148G>ACA385672193LEMD3c.2036G>A (p.Ser679Asn)
c.2033G>A (p.Ser678Asn)
12g.65240148G>CCA385672194LEMD3c.2036G>C (p.Ser679Thr)
c.2033G>C (p.Ser678Thr)
12g.65240148G>TCA385672195LEMD3c.2036G>T (p.Ser679Ile)
c.2033G>T (p.Ser678Ile)
12g.65240149T>ACA385672198LEMD3c.2037T>A (p.Ser679Arg)
c.2034T>A (p.Ser678Arg)
12g.65240149T>CCA480666278LEMD3c.2037T>C (p.Ser679=)
c.2034T>C (p.Ser678=)
12g.65240149T>GCA385672199LEMD3c.2037T>G (p.Ser679Arg)
c.2034T>G (p.Ser678Arg)
12g.65240150C>ACA385672201LEMD3c.2038C>A (p.His680Asn)
c.2035C>A (p.His679Asn)
 gnomAD v4
12g.65240150C=CA2042446879LEMD3c.2038C= (p.His680=)
c.2035C= (p.His679=)
12g.65240150C>GCA385672202LEMD3c.2038C>G (p.His680Asp)
c.2035C>G (p.His679Asp)
12g.65240150C>TCA385672203LEMD3c.2038C>T (p.His680Tyr)
c.2035C>T (p.His679Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.65240151A=CA2042446885LEMD3c.2039A= (p.His680=)
c.2036A= (p.His679=)
12g.65240151A>CCA385672204LEMD3c.2039A>C (p.His680Pro)
c.2036A>C (p.His679Pro)
12g.65240151A>GCA6671119LEMD3c.2039A>G (p.His680Arg)
c.2036A>G (p.His679Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240151A>TCA385672207LEMD3c.2039A>T (p.His680Leu)
c.2036A>T (p.His679Leu)
12g.65240152T>ACA385672210LEMD3c.2040T>A (p.His680Gln)
c.2037T>A (p.His679Gln)
12g.65240152T>CCA6671120LEMD3c.2040T>C (p.His680=)
c.2037T>C (p.His679=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240152T>GCA385672209LEMD3c.2040T>G (p.His680Gln)
c.2037T>G (p.His679Gln)
12g.65240152T=CA2042446891LEMD3c.2040T= (p.His680=)
c.2037T= (p.His679=)
12g.65240153A>CCA385672212LEMD3c.2041A>C (p.Asn681His)
c.2038A>C (p.Asn680His)
12g.65240153A>GCA385672214LEMD3c.2041A>G (p.Asn681Asp)
c.2038A>G (p.Asn680Asp)
 gnomAD v4
12g.65240153A>TCA385672215LEMD3c.2041A>T (p.Asn681Tyr)
c.2038A>T (p.Asn680Tyr)
12g.65240154A=CA2042446893LEMD3c.2042A= (p.Asn681=)
c.2039A= (p.Asn680=)
12g.65240154A>CCA385672216LEMD3c.2042A>C (p.Asn681Thr)
c.2039A>C (p.Asn680Thr)
12g.65240154A>GCA6671121LEMD3c.2042A>G (p.Asn681Ser)
c.2039A>G (p.Asn680Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240154A>TCA385672218LEMD3c.2042A>T (p.Asn681Ile)
c.2039A>T (p.Asn680Ile)
12g.65240155T>ACA385672220LEMD3c.2043T>A (p.Asn681Lys)
c.2040T>A (p.Asn680Lys)
12g.65240155T>CCA6671122LEMD3c.2043T>C (p.Asn681=)
c.2040T>C (p.Asn680=)
 dbSNP ExAC gnomAD v2
12g.65240155T>GCA385672222LEMD3c.2043T>G (p.Asn681Lys)
c.2040T>G (p.Asn680Lys)
12g.65240155T=CA2042446896LEMD3c.2043T= (p.Asn681=)
c.2040T= (p.Asn680=)
12g.65240156G>ACA385672223LEMD3c.2044G>A (p.Glu682Lys)
c.2041G>A (p.Glu681Lys)
12g.65240156G>CCA385672225LEMD3c.2044G>C (p.Glu682Gln)
c.2041G>C (p.Glu681Gln)
 ClinVar
12g.65240156G>TCA385672226LEMD3c.2044G>T (p.Glu682Ter)
c.2041G>T (p.Glu681Ter)
12g.65240157A>CCA385672229LEMD3c.2045A>C (p.Glu682Ala)
c.2042A>C (p.Glu681Ala)
12g.65240157A>GCA385672231LEMD3c.2045A>G (p.Glu682Gly)
c.2042A>G (p.Glu681Gly)
 gnomAD v4
12g.65240157A>TCA385672228LEMD3c.2045A>T (p.Glu682Val)
c.2042A>T (p.Glu681Val)
12g.65240158A>CCA385672232LEMD3c.2046A>C (p.Glu682Asp)
c.2043A>C (p.Glu681Asp)
12g.65240158A>GCA480666279LEMD3c.2046A>G (p.Glu682=)
c.2043A>G (p.Glu681=)
12g.65240158A>TCA385672233LEMD3c.2046A>T (p.Glu682Asp)
c.2043A>T (p.Glu681Asp)
12g.65240159G>ACA385672234LEMD3c.2047G>A (p.Ala683Thr)
c.2044G>A (p.Ala682Thr)
12g.65240159G>CCA385672236LEMD3c.2047G>C (p.Ala683Pro)
c.2044G>C (p.Ala682Pro)
12g.65240159G>TCA385672237LEMD3c.2047G>T (p.Ala683Ser)
c.2044G>T (p.Ala682Ser)
12g.65240160C>ACA6671123LEMD3c.2048C>A (p.Ala683Asp)
c.2045C>A (p.Ala682Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240160C=CA2042446902LEMD3c.2048C= (p.Ala683=)
c.2045C= (p.Ala682=)
12g.65240160C>GCA385672239LEMD3c.2048C>G (p.Ala683Gly)
c.2045C>G (p.Ala682Gly)
 gnomAD v4
12g.65240160C>TCA385672240LEMD3c.2048C>T (p.Ala683Val)
c.2045C>T (p.Ala682Val)
12g.65240161C>ACA480666282LEMD3c.2049C>A (p.Ala683=)
c.2046C>A (p.Ala682=)
12g.65240161C>GCA480666281LEMD3c.2049C>G (p.Ala683=)
c.2046C>G (p.Ala682=)
12g.65240161C>TCA480666280LEMD3c.2049C>T (p.Ala683=)
c.2046C>T (p.Ala682=)
12g.65240162T>ACA385672242LEMD3c.2050T>A (p.Cys684Ser)
c.2047T>A (p.Cys683Ser)
12g.65240162T>CCA385672244LEMD3c.2050T>C (p.Cys684Arg)
c.2047T>C (p.Cys683Arg)
12g.65240162T>GCA385672245LEMD3c.2050T>G (p.Cys684Gly)
c.2047T>G (p.Cys683Gly)
12g.65240163G>ACA385672247LEMD3c.2051G>A (p.Cys684Tyr)
c.2048G>A (p.Cys683Tyr)
12g.65240163G>CCA385672248LEMD3c.2051G>C (p.Cys684Ser)
c.2048G>C (p.Cys683Ser)
12g.65240163G=CA2042446906LEMD3c.2051G= (p.Cys684=)
c.2048G= (p.Cys683=)
12g.65240163G>TCA385672250LEMD3c.2051G>T (p.Cys684Phe)
c.2048G>T (p.Cys683Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.65240164C>ACA385672252LEMD3c.2052C>A (p.Cys684Ter)
c.2049C>A (p.Cys683Ter)
12g.65240164C>GCA385672253LEMD3c.2052C>G (p.Cys684Trp)
c.2049C>G (p.Cys683Trp)
12g.65240164C>TCA480666283LEMD3c.2052C>T (p.Cys684=)
c.2049C>T (p.Cys683=)
 gnomAD v4
12g.65240165C>ACA385672254LEMD3c.2053C>A (p.Gln685Lys)
c.2050C>A (p.Gln684Lys)
 ClinVar dbSNP gnomAD v4
12g.65240165C>GCA385672257LEMD3c.2053C>G (p.Gln685Glu)
c.2050C>G (p.Gln684Glu)
12g.65240165C>TCA385672255LEMD3c.2053C>T (p.Gln685Ter)
c.2050C>T (p.Gln684Ter)
12g.65240166A>CCA385672259LEMD3c.2054A>C (p.Gln685Pro)
c.2051A>C (p.Gln684Pro)
12g.65240166A>GCA385672262LEMD3c.2054A>G (p.Gln685Arg)
c.2051A>G (p.Gln684Arg)
12g.65240166A>TCA385672261LEMD3c.2054A>T (p.Gln685Leu)
c.2051A>T (p.Gln684Leu)
12g.65240167G>ACA480666284LEMD3c.2055G>A (p.Gln685=)
c.2052G>A (p.Gln684=)
 dbSNP gnomAD v2 gnomAD v4
12g.65240167G>CCA385672264LEMD3c.2055G>C (p.Gln685His)
c.2052G>C (p.Gln684His)
12g.65240167G=CA2042446919LEMD3c.2055G= (p.Gln685=)
c.2052G= (p.Gln684=)
12g.65240167G>TCA385672266LEMD3c.2055G>T (p.Gln685His)
c.2052G>T (p.Gln684His)
12g.65240168G>ACA6671124LEMD3c.2056G>A (p.Glu686Lys)
c.2053G>A (p.Glu685Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65240168G>CCA385672268LEMD3c.2056G>C (p.Glu686Gln)
c.2053G>C (p.Glu685Gln)
12g.65240168G=CA2042446929LEMD3c.2056G= (p.Glu686=)
c.2053G= (p.Glu685=)
12g.65240168G>TCA385672270LEMD3c.2056G>T (p.Glu686Ter)
c.2053G>T (p.Glu685Ter)
 COSMIC
12g.65240169A>CCA385672272LEMD3c.2057A>C (p.Glu686Ala)
c.2054A>C (p.Glu685Ala)
12g.65240169A>GCA385672274LEMD3c.2057A>G (p.Glu686Gly)
c.2054A>G (p.Glu685Gly)
12g.65240169A>TCA385672275LEMD3c.2057A>T (p.Glu686Val)
c.2054A>T (p.Glu685Val)
12g.65240170A>CCA385672277LEMD3c.2058A>C (p.Glu686Asp)
c.2055A>C (p.Glu685Asp)
12g.65240170A>GCA480666285LEMD3c.2058A>G (p.Glu686=)
c.2055A>G (p.Glu685=)
12g.65240170A>TCA385672278LEMD3c.2058A>T (p.Glu686Asp)
c.2055A>T (p.Glu685Asp)
12g.65240171A>CCA385672280LEMD3c.2059A>C (p.Asn687His)
c.2056A>C (p.Asn686His)
12g.65240171A>GCA385672282LEMD3c.2059A>G (p.Asn687Asp)
c.2056A>G (p.Asn686Asp)
12g.65240171A>TCA385672283LEMD3c.2059A>T (p.Asn687Tyr)
c.2056A>T (p.Asn686Tyr)
12g.65240172A>CCA385672285LEMD3c.2060A>C (p.Asn687Thr)
c.2057A>C (p.Asn686Thr)
12g.65240172A>GCA385672288LEMD3c.2060A>G (p.Asn687Ser)
c.2057A>G (p.Asn686Ser)
12g.65240172A>TCA385672287LEMD3c.2060A>T (p.Asn687Ile)
c.2057A>T (p.Asn686Ile)
12g.65240173C>ACA385672290LEMD3c.2061C>A (p.Asn687Lys)
c.2058C>A (p.Asn686Lys)
12g.65240173C>GCA385672291LEMD3c.2061C>G (p.Asn687Lys)
c.2058C>G (p.Asn686Lys)
12g.65240173C>TCA480666286LEMD3c.2061C>T (p.Asn687=)
c.2058C>T (p.Asn686=)
12g.65240173_65240174delinsCACA2042446948LEMD3c.2061_2062delinsCA (p.Asn687=)
c.2058_2059delinsCA (p.Asn686=)
12g.65240174A=CA2042446955LEMD3c.2062A= (p.Lys688=)
c.2059A= (p.Lys687=)
12g.65240174A>CCA385672293LEMD3c.2062A>C (p.Lys688Gln)
c.2059A>C (p.Lys687Gln)
12g.65240174A>GCA6671125LEMD3c.2062A>G (p.Lys688Glu)
c.2059A>G (p.Lys687Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240174A>TCA385672296LEMD3c.2062A>T (p.Lys688Ter)
c.2059A>T (p.Lys687Ter)
12g.65240176delCA691029168LEMD3c.2064del (p.Asp689IlefsTer15)
c.2061del (p.Asp688IlefsTer15)
 dbSNP
12g.65240175A=CA2042446977LEMD3c.2063A= (p.Lys688=)
c.2060A= (p.Lys687=)
12g.65240175A>CCA385672297LEMD3c.2063A>C (p.Lys688Thr)
c.2060A>C (p.Lys687Thr)
12g.65240175A>GCA6671126LEMD3c.2063A>G (p.Lys688Arg)
c.2060A>G (p.Lys687Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.65240175A>TCA385672299LEMD3c.2063A>T (p.Lys688Ile)
c.2060A>T (p.Lys687Ile)
12g.65240176A>CCA385672301LEMD3c.2064A>C (p.Lys688Asn)
c.2061A>C (p.Lys687Asn)
12g.65240176A>GCA480666287LEMD3c.2064A>G (p.Lys688=)
c.2061A>G (p.Lys687=)
12g.65240176A>TCA385672302LEMD3c.2064A>T (p.Lys688Asn)
c.2061A>T (p.Lys687Asn)
12g.65240177G>ACA385672307LEMD3c.2065G>A (p.Asp689Asn)
c.2062G>A (p.Asp688Asn)
 gnomAD v4
12g.65240177G>CCA385672305LEMD3c.2065G>C (p.Asp689His)
c.2062G>C (p.Asp688His)
12g.65240177G>TCA385672304LEMD3c.2065G>T (p.Asp689Tyr)
c.2062G>T (p.Asp688Tyr)
12g.65240178A=CA2042446985LEMD3c.2066A= (p.Asp689=)
c.2063A= (p.Asp688=)
12g.65240178A>CCA385672312LEMD3c.2066A>C (p.Asp689Ala)
c.2063A>C (p.Asp688Ala)
 ClinVar
12g.65240178A>GCA385672310LEMD3c.2066A>G (p.Asp689Gly)
c.2063A>G (p.Asp688Gly)
 dbSNP
12g.65240178A>TCA385672311LEMD3c.2066A>T (p.Asp689Val)
c.2063A>T (p.Asp688Val)
12g.65240179T>ACA385672314LEMD3c.2067T>A (p.Asp689Glu)
c.2064T>A (p.Asp688Glu)
12g.65240179T>CCA480666288LEMD3c.2067T>C (p.Asp689=)
c.2064T>C (p.Asp688=)
12g.65240179T>GCA385672316LEMD3c.2067T>G (p.Asp689Glu)
c.2064T>G (p.Asp688Glu)
12g.65240180T>ACA385672318LEMD3c.2068T>A (p.Leu690Ile)
c.2065T>A (p.Leu689Ile)
12g.65240180T>CCA480666289LEMD3c.2068T>C (p.Leu690=)
c.2065T>C (p.Leu689=)
12g.65240180T>GCA385672319LEMD3c.2068T>G (p.Leu690Val)
c.2065T>G (p.Leu689Val)
12g.65240181T>ACA385672324LEMD3c.2069T>A (p.Leu690Ter)
c.2066T>A (p.Leu689Ter)
12g.65240181T>CCA6671127LEMD3c.2069T>C (p.Leu690Ser)
c.2066T>C (p.Leu689Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.65240181T>GCA385672322LEMD3c.2069T>G (p.Leu690Ter)
c.2066T>G (p.Leu689Ter)
12g.65240181T=CA2042446988LEMD3c.2069T= (p.Leu690=)
c.2066T= (p.Leu689=)
12g.65240182A>CCA385672326LEMD3c.2070A>C (p.Leu690Phe)
c.2067A>C (p.Leu689Phe)
12g.65240182A>GCA480666290LEMD3c.2070A>G (p.Leu690=)
c.2067A>G (p.Leu689=)
12g.65240182A>TCA385672327LEMD3c.2070A>T (p.Leu690Phe)
c.2067A>T (p.Leu689Phe)

Number of alleles fetched