|
ENST00000382896.9:c.1590A>T
|
ENSP00000372352.5:p.Leu530Phe
|
|
|
ENST00000537580.6:c.1500A>T
|
ENSP00000439922.2:p.Leu500Phe
|
|
|
ENST00000538878.6:c.1365A>T
|
ENSP00000445274.2:p.Leu455Phe
|
|
|
ENST00000540140.6:c.1491A>T
|
ENSP00000441943.2:p.Leu497Phe
|
|
|
ENST00000545955.6:c.1656A>T
MANE Select
|
ENSP00000442047.2:p.Leu552Phe
|
|
|
ENST00000612274.5:c.1500A>T
|
ENSP00000485013.1:p.Leu500Phe
|
|
|
ENST00000617789.5:c.1521A>T
|
ENSP00000483735.1:p.Leu507Phe
|
|
|
ENST00000618474.5:c.1116A>T
|
ENSP00000484698.1:p.Leu372Phe
|
|
|
ENST00000682112.1:c.1365A>T
|
ENSP00000508171.1:p.Leu455Phe
|
|
|
ENST00000682216.1:c.1365A>T
|
ENSP00000507656.1:p.Leu455Phe
|
|
|
ENST00000682913.1:c.1500A>T
|
ENSP00000507736.1:p.Leu500Phe
|
|
|
ENST00000684226.1:c.492A>T
|
ENSP00000507919.1:p.Leu164Phe
|
|
|
ENST00000329134.9:c.1365A>T
|
ENSP00000330446.5:p.Leu455Phe
|
|
|
ENST00000331397.8:c.1365A>T
|
ENSP00000328939.4:p.Leu455Phe
|
|
|
ENST00000362096.8:c.1365A>T
|
ENSP00000355420.4:p.Leu455Phe
|
|
|
ENST00000382896.8:c.1500A>T
|
ENSP00000372352.4:p.Leu500Phe
|
|
|
ENST00000537580.5:c.1500A>T
|
ENSP00000439922.2:p.Leu500Phe
|
|
|
ENST00000538878.5:c.1365A>T
|
ENSP00000445274.2:p.Leu455Phe
|
|
|
ENST00000540140.5:c.1491A>T
|
ENSP00000441943.2:p.Leu497Phe
|
|
|
ENST00000545955.5:c.1656A>T
|
ENSP00000442047.2:p.Leu552Phe
|
|
|
ENST00000612274.4:c.1500A>T
|
ENSP00000485013.1:p.Leu500Phe
|
|
|
ENST00000617789.4:c.1521A>T
|
ENSP00000483735.1:p.Leu507Phe
|
|
|
ENST00000618474.4:c.1116A>T
|
ENSP00000484698.1:p.Leu372Phe
|
|
|
ENST00000624098.3:c.1500A>T
|
ENSP00000485539.2:p.Leu500Phe
|
|
|
NM_001258249.1:c.1656A>T
|
NP_001245178.1:p.Leu552Phe
|
|
|
NM_001258250.1:c.1317A>T
|
NP_001245179.1:p.Leu439Phe
|
|
|
NM_001258251.1:c.1365A>T
|
NP_001245180.1:p.Leu455Phe
|
|
|
NM_001258252.1:c.1500A>T
|
NP_001245181.1:p.Leu500Phe
|
|
|
NM_001258253.1:c.1365A>T
|
NP_001245182.1:p.Leu455Phe
|
|
|
NM_001258254.1:c.1500A>T
|
NP_001245183.1:p.Leu500Phe
|
|
|
NM_001258255.1:c.1500A>T
|
NP_001245184.1:p.Leu500Phe
|
|
|
NM_001258256.1:c.1500A>T
|
NP_001245185.1:p.Leu500Phe
|
|
|
NM_001258257.1:c.1365A>T
|
NP_001245186.1:p.Leu455Phe
|
|
|
NM_001258258.1:c.1521A>T
|
NP_001245187.1:p.Leu507Phe
|
|
|
NM_001258259.1:c.1317A>T
|
NP_001245188.1:p.Leu439Phe
|
|
|
NM_001258260.1:c.1455A>T
|
NP_001245189.1:p.Leu485Phe
|
|
|
NM_001258261.1:c.1491A>T
|
NP_001245190.1:p.Leu497Phe
|
|
|
NM_001258262.1:c.1656A>T
|
NP_001245191.1:p.Leu552Phe
|
|
|
NM_001258263.1:c.1365A>T
|
NP_001245192.1:p.Leu455Phe
|
|
|
NM_001258264.1:c.1452A>T
|
NP_001245193.1:p.Leu484Phe
|
|
|
NM_001258265.1:c.1116A>T
|
NP_001245194.1:p.Leu372Phe
|
|
|
NM_001258266.1:c.1500A>T
|
NP_001245195.1:p.Leu500Phe
|
|
|
NM_001258267.1:c.1365A>T
|
NP_001245196.1:p.Leu455Phe
|
|
|
NM_001258268.1:c.1500A>T
|
NP_001245197.1:p.Leu500Phe
|
|
|
NM_001258269.1:c.1590A>T
|
NP_001245198.1:p.Leu530Phe
|
|
|
NM_001258270.1:c.1365A>T
|
NP_001245199.1:p.Leu455Phe
|
|
|
NM_007125.4:c.1365A>T
|
NP_009056.3:p.Leu455Phe
|
|
|
NM_182659.1:c.1365A>T
|
NP_872600.1:p.Leu455Phe
|
|
|
NM_182660.1:c.1365A>T
|
NP_872601.1:p.Leu455Phe
|
|
|
NR_047596.1:n.2370A>T
|
|
|
|
NR_047597.1:n.2476A>T
|
|
|
|
NR_047598.1:n.2606A>T
|
|
|
|
NR_047599.1:n.2370A>T
|
|
|
|
NR_047600.1:n.2470A>T
|
|
|
|
NR_047601.1:n.2505A>T
|
|
|
|
NR_047602.1:n.2335A>T
|
|
|
|
NR_047603.1:n.2493A>T
|
|
|
|
NR_047604.1:n.2370A>T
|
|
|
|
NR_047605.1:n.2322A>T
|
|
|
|
NR_047606.1:n.2506A>T
|
|
|
|
NR_047607.1:n.2716A>T
|
|
|
|
NR_047608.1:n.2457A>T
|
|
|
|
NR_047609.1:n.2370A>T
|
|
|
|
NR_047610.1:n.2370A>T
|
|
|
|
NR_047611.1:n.2505A>T
|
|
|
|
NR_047612.1:n.2661A>T
|
|
|
|
NR_047613.1:n.2611A>T
|
|
|
|
NR_047614.1:n.2574A>T
|
|
|
|
NR_047615.1:n.2428A>T
|
|
|
|
NR_047616.1:n.2484A>T
|
|
|
|
NR_047617.1:n.2632A>T
|
|
|
|
NR_047618.1:n.2661A>T
|
|
|
|
NR_047619.1:n.2428A>T
|
|
|
|
NR_047620.1:n.2505A>T
|
|
|
|
NR_047621.1:n.2732A>T
|
|
|
|
NR_047622.1:n.2562A>T
|
|
|
|
NR_047623.1:n.2505A>T
|
|
|
|
NR_047624.1:n.2590A>T
|
|
|
|
NR_047625.1:n.2243A>T
|
|
|
|
NR_047626.1:n.2370A>T
|
|
|
|
NR_047627.1:n.2335A>T
|
|
|
|
NR_047628.1:n.2370A>T
|
|
|
|
NR_047629.1:n.2370A>T
|
|
|
|
NR_047630.1:n.2370A>T
|
|
|
|
NR_047631.1:n.2370A>T
|
|
|
|
NR_047632.1:n.2450A>T
|
|
|
|
NR_047633.1:n.2595A>T
|
|
|
|
NR_047634.1:n.2491A>T
|
|
|
|
NR_047635.1:n.2365A>T
|
|
|
|
NR_047636.1:n.2460A>T
|
|
|
|
NR_047637.1:n.2428A>T
|
|
|
|
NR_047638.1:n.2436A>T
|
|
|
|
NR_047639.1:n.2276A>T
|
|
|
|
NR_047640.1:n.2476A>T
|
|
|
|
NR_047641.1:n.2370A>T
|
|
|
|
NR_047642.1:n.2370A>T
|
|
|
|
NR_047643.1:n.2505A>T
|
|
|
|
NR_047644.1:n.2563A>T
|
|
|
|
NR_047645.1:n.2576A>T
|
|
|
|
NR_047646.1:n.2243A>T
|
|
|
|
NR_047647.1:n.2327A>T
|
|
|
|
XM_005262518.2:c.1500A>T
|
XP_005262575.1:p.Leu500Phe
|
|
|
XM_006724875.2:c.1656A>T
|
XP_006724938.1:p.Leu552Phe
|
|
|
XM_006724876.2:c.1365A>T
|
XP_006724939.1:p.Leu455Phe
|
|
|
XM_011531441.1:c.1656A>T
|
XP_011529743.1:p.Leu552Phe
|
|
|
XM_011531442.1:c.1656A>T
|
XP_011529744.1:p.Leu552Phe
|
|
|
XM_011531443.1:c.1590A>T
|
XP_011529745.1:p.Leu530Phe
|
|
|
XM_011531444.1:c.1590A>T
|
XP_011529746.1:p.Leu530Phe
|
|
|
XM_011531445.1:c.1521A>T
|
XP_011529747.1:p.Leu507Phe
|
|
|
XM_011531446.1:c.1500A>T
|
XP_011529748.1:p.Leu500Phe
|
|
|
XM_011531447.1:c.1521A>T
|
XP_011529749.1:p.Leu507Phe
|
|
|
XM_011531448.1:c.1455A>T
|
XP_011529750.1:p.Leu485Phe
|
|
|
XM_011531449.1:c.1500A>T
|
XP_011529751.1:p.Leu500Phe
|
|
|
XM_011531450.1:c.1455A>T
|
XP_011529752.1:p.Leu485Phe
|
|
|
XM_011531451.1:c.1365A>T
|
XP_011529753.1:p.Leu455Phe
|
|
|
XM_011531452.1:c.1365A>T
|
XP_011529754.1:p.Leu455Phe
|
|
|
XM_011531453.1:c.1656A>T
|
XP_011529755.1:p.Leu552Phe
|
|
|
XM_011531454.1:c.1656A>T
|
XP_011529756.1:p.Leu552Phe
|
|
|
XM_011531455.1:c.1656A>T
|
XP_011529757.1:p.Leu552Phe
|
|
|
XM_011531456.1:c.1656A>T
|
XP_011529758.1:p.Leu552Phe
|
|
|
XM_011531457.1:c.1656A>T
|
XP_011529759.1:p.Leu552Phe
|
|
|
XM_011531458.1:c.1590A>T
|
XP_011529760.1:p.Leu530Phe
|
|
|
XM_011531459.1:c.1656A>T
|
XP_011529761.1:p.Leu552Phe
|
|
|
XM_011531460.1:c.1656A>T
|
XP_011529762.1:p.Leu552Phe
|
|
|
XM_011531461.1:c.1656A>T
|
XP_011529763.1:p.Leu552Phe
|
|
|
XM_011531462.1:c.1590A>T
|
XP_011529764.1:p.Leu530Phe
|
|
|
XM_011531463.1:c.1500A>T
|
XP_011529765.1:p.Leu500Phe
|
|
|
XM_011531464.1:c.1500A>T
|
XP_011529766.1:p.Leu500Phe
|
|
|
XM_011531465.1:c.1365A>T
|
XP_011529767.1:p.Leu455Phe
|
|
|
XM_011531466.1:c.1590A>T
|
XP_011529768.1:p.Leu530Phe
|
|
|
XM_011531467.1:c.1500A>T
|
XP_011529769.1:p.Leu500Phe
|
|
|
XR_938608.1:n.2011A>T
|
|
|
|
XM_005262518.4:c.1500A>T
|
XP_005262575.1:p.Leu500Phe
|
|
|
XM_006724875.4:c.1656A>T
|
XP_006724938.1:p.Leu552Phe
|
|
|
XM_011531441.3:c.1656A>T
|
XP_011529743.1:p.Leu552Phe
|
|
|
XM_011531442.3:c.1656A>T
|
XP_011529744.1:p.Leu552Phe
|
|
|
XM_011531443.3:c.1590A>T
|
XP_011529745.1:p.Leu530Phe
|
|
|
XM_011531445.3:c.1521A>T
|
XP_011529747.1:p.Leu507Phe
|
|
|
XM_011531446.3:c.1500A>T
|
XP_011529748.1:p.Leu500Phe
|
|
|
XM_011531447.3:c.1521A>T
|
XP_011529749.1:p.Leu507Phe
|
|
|
XM_011531448.3:c.1455A>T
|
XP_011529750.1:p.Leu485Phe
|
|
|
XM_011531449.3:c.1500A>T
|
XP_011529751.1:p.Leu500Phe
|
|
|
XM_011531450.3:c.1455A>T
|
XP_011529752.1:p.Leu485Phe
|
|
|
XM_011531451.3:c.1365A>T
|
XP_011529753.1:p.Leu455Phe
|
|
|
XM_011531452.3:c.1365A>T
|
XP_011529754.1:p.Leu455Phe
|
|
|
XM_011531453.3:c.1656A>T
|
XP_011529755.1:p.Leu552Phe
|
|
|
XM_011531454.3:c.1656A>T
|
XP_011529756.1:p.Leu552Phe
|
|
|
XM_011531455.3:c.1656A>T
|
XP_011529757.1:p.Leu552Phe
|
|
|
XM_011531458.3:c.1590A>T
|
XP_011529760.1:p.Leu530Phe
|
|
|
XM_011531459.3:c.1656A>T
|
XP_011529761.1:p.Leu552Phe
|
|
|
XM_011531460.3:c.1656A>T
|
XP_011529762.1:p.Leu552Phe
|
|
|
XM_011531461.3:c.1656A>T
|
XP_011529763.1:p.Leu552Phe
|
|
|
XM_011531462.3:c.1590A>T
|
XP_011529764.1:p.Leu530Phe
|
|
|
XM_011531463.3:c.1500A>T
|
XP_011529765.1:p.Leu500Phe
|
|
|
XM_011531464.3:c.1500A>T
|
XP_011529766.1:p.Leu500Phe
|
|
|
XM_011531465.3:c.1365A>T
|
XP_011529767.1:p.Leu455Phe
|
|
|
XM_017030066.2:c.1590A>T
|
XP_016885555.1:p.Leu530Phe
|
|
|
XM_017030067.2:c.1500A>T
|
XP_016885556.1:p.Leu500Phe
|
|
|
XM_017030068.2:c.1365A>T
|
XP_016885557.1:p.Leu455Phe
|
|
|
XM_017030070.2:c.1656A>T
|
XP_016885559.1:p.Leu552Phe
|
|
|
XM_017030071.2:c.1656A>T
|
XP_016885560.1:p.Leu552Phe
|
|
|
XM_017030072.2:c.1455A>T
|
XP_016885561.1:p.Leu485Phe
|
|
|
XM_017030073.2:c.1365A>T
|
XP_016885562.1:p.Leu455Phe
|
|
|
XM_017030074.2:c.1590A>T
|
XP_016885563.1:p.Leu530Phe
|
|
|
XM_024452493.1:c.1656A>T
|
XP_024308261.1:p.Leu552Phe
|
|
|
XM_024452494.1:c.1455A>T
|
XP_024308262.1:p.Leu485Phe
|
|
|
XR_001756008.2:n.1720A>T
|
|
|
|
XR_002958831.1:n.1876A>T
|
|
|
|
NM_001258249.2:c.1656A>T
MANE Select
|
NP_001245178.1:p.Leu552Phe
|
|
|
NM_001400170.1:c.1500A>T
|
NP_001387099.1:p.Leu500Phe
|
|
|
NM_001400171.1:c.1455A>T
|
NP_001387100.1:p.Leu485Phe
|
|
|
NM_001400173.1:c.1365A>T
|
NP_001387102.1:p.Leu455Phe
|
|
|
NM_001400175.1:c.1590A>T
|
NP_001387104.1:p.Leu530Phe
|
|
|
NM_001400177.1:c.1590A>T
|
NP_001387106.1:p.Leu530Phe
|
|
|
NM_001400178.1:c.1500A>T
|
NP_001387107.1:p.Leu500Phe
|
|
|
NM_001400181.1:c.1365A>T
|
NP_001387110.1:p.Leu455Phe
|
|
|
NM_001400183.1:c.1656A>T
|
NP_001387112.1:p.Leu552Phe
|
|
|
NM_001400185.1:c.1590A>T
|
NP_001387114.1:p.Leu530Phe
|
|
|
NM_001400187.1:c.1500A>T
|
NP_001387116.1:p.Leu500Phe
|
|
|
NM_001400189.1:c.1455A>T
|
NP_001387118.1:p.Leu485Phe
|
|
|
NM_001400192.1:c.1500A>T
|
NP_001387121.1:p.Leu500Phe
|
|
|
NM_001400195.1:c.1455A>T
|
NP_001387124.1:p.Leu485Phe
|
|
|
NM_001400199.1:c.1365A>T
|
NP_001387128.1:p.Leu455Phe
|
|
|
NR_174404.1:n.1889A>T
|
|
|
|
NR_174405.1:n.1733A>T
|
|
|
