|
ENST00000412971.6:c.139_140insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000410263.2:p.Arg47GlnfsTer2
|
|
|
ENST00000435155.2:c.556_557insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000403655.2:p.Arg186GlnfsTer2
|
|
|
ENST00000467459.6:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000435889.2:p.Arg175GlnfsTer2
|
|
|
ENST00000483127.2:c.541_542insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000436469.2:p.Arg181GlnfsTer2
|
|
|
ENST00000485271.6:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000431264.2:p.Arg175GlnfsTer2
|
|
|
ENST00000529892.6:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000432528.2:p.Arg189GlnfsTer2
|
|
|
ENST00000533178.6:c.146_147insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000436430.2:p.Tyr50ValfsTer?
|
|
|
ENST00000672314.2:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500828.2:p.Arg175GlnfsTer2
|
|
|
ENST00000674679.2:c.*435_*436insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000501623.2:n.*435_*436insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000710952.2:c.607_608insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
MANE Plus Clinical
|
ENSP00000518552.2:p.Arg203GlnfsTer2
|
|
|
ENST00000672818.3:c.598_599insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500891.1:p.Arg200GlnfsTer2
|
|
|
ENST00000450313.6:c.533_534insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000408176.2:p.Tyr179ValfsTer?
|
|
|
ENST00000456914.7:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
MANE Select
|
ENSP00000407590.2:p.Arg175GlnfsTer2
|
|
|
ENST00000461495.6:c.*262_*263insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000437166.1:n.*262_*263insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000671856.1:n.469_470insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
ENST00000671898.1:c.1111_1112insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000499896.1:p.Arg371GlnfsTer2
|
|
|
ENST00000672011.1:c.491_492insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500418.1:p.Tyr165ValfsTer?
|
|
|
ENST00000672314.1:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500828.1:p.Arg175GlnfsTer2
|
|
|
ENST00000672593.1:c.*411_*412insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500455.1:n.*411_*412insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000672764.1:c.482_483insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500886.1:p.Tyr162ValfsTer?
|
|
|
ENST00000672818.2:c.598_599insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500891.1:p.Arg200GlnfsTer2
|
|
|
ENST00000673134.1:c.*220_*221insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000500526.1:n.*220_*221insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000674679.1:c.551_552insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000501623.1:n.551_552insAGTAATATATTCATGTAGAACATGTAGGAAA...
|
|
|
ENST00000354383.10:c.526_527insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000346354.6:p.Arg176GlnfsTer2
|
|
|
ENST00000355498.6:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000347685.2:p.Arg175GlnfsTer2
|
|
|
ENST00000372098.7:c.598_599insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000361170.3:p.Arg200GlnfsTer2
|
|
|
ENST00000372104.5:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000361176.1:p.Arg175GlnfsTer2
|
|
|
ENST00000372110.7:c.568_569insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000361182.3:p.Arg190GlnfsTer2
|
|
|
ENST00000372115.7:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000361187.3:p.Arg189GlnfsTer2
|
|
|
ENST00000412971.5:c.139_140insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000410263.1:p.Arg47GlnfsTer2
|
|
|
ENST00000435155.1:c.556_557insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000403655.1:p.Arg186GlnfsTer2
|
|
|
ENST00000448481.5:c.556_557insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000409718.1:p.Arg186GlnfsTer2
|
|
|
ENST00000450313.5:c.607_608insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000408176.1:p.Arg203GlnfsTer2
|
|
|
ENST00000456914.6:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000407590.2:p.Arg175GlnfsTer2
|
|
|
ENST00000461495.5:c.*262_*263insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000437166.1:n.*262_*263insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000462388.5:n.214_215insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
ENST00000467940.5:c.*446_*447insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000436478.1:n.*446_*447insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000470256.5:c.410_411insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000434985.1:p.Tyr138ValfsTer?
|
|
|
ENST00000475516.5:c.*336_*337insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000433843.1:n.*336_*337insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000478796.5:n.510_511insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
ENST00000479746.6:n.881_882insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
ENST00000481571.5:c.*336_*337insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000436597.1:n.*336_*337insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000483642.5:n.1038_1039insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
ENST00000488731.6:c.187+106_187+107insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000432330.1:n.187+106_187+107insAGTAATATATTCATGTAGAACAT...
|
|
|
ENST00000492494.5:n.920_921insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
ENST00000525160.5:c.*174_*175insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000431568.1:n.*174_*175insAGTAATATATTCATGTAGAACATGTAGGA...
|
|
|
ENST00000528013.6:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000433130.2:p.Arg189GlnfsTer2
|
|
|
ENST00000529984.5:c.187+106_187+107insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000437093.1:n.187+106_187+107insAGTAATATATTCATGTAGAACAT...
|
|
|
ENST00000531105.5:c.115+1734_115+1735insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000431292.1:n.115+1734_115+1735insAGTAATATATTCATGTAGAAC...
|
|
|
ENST00000533178.5:c.152_153insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
ENSP00000436430.1:p.Tyr52ValfsTer?
|
|
|
NM_001048171.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001041636.1:p.Arg189GlnfsTer2
|
|
|
NM_001048172.1:c.526_527insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001041637.1:p.Arg176GlnfsTer2
|
|
|
NM_001048173.1:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001041638.1:p.Arg175GlnfsTer2
|
|
|
NM_001048174.1:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001041639.1:p.Arg175GlnfsTer2
|
|
|
NM_001128425.1:c.607_608insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA , LRG_220t1:c.607_608insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001121897.1:p.Arg203GlnfsTer2
|
|
|
NM_001293190.1:c.568_569insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280119.1:p.Arg190GlnfsTer2
|
|
|
NM_001293191.1:c.556_557insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280120.1:p.Arg186GlnfsTer2
|
|
|
NM_001293192.1:c.247_248insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280121.1:p.Arg83GlnfsTer2
|
|
|
NM_001293195.1:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280124.1:p.Arg175GlnfsTer2
|
|
|
NM_001293196.1:c.247_248insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280125.1:p.Arg83GlnfsTer2
|
|
|
NM_012222.2:c.598_599insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_036354.1:p.Arg200GlnfsTer2
|
|
|
XM_011541497.1:c.583_584insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539799.1:p.Arg195GlnfsTer2
|
|
|
XM_011541498.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539800.1:p.Arg189GlnfsTer2
|
|
|
XM_011541499.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539801.1:p.Arg189GlnfsTer2
|
|
|
XM_011541500.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539802.1:p.Arg189GlnfsTer2
|
|
|
XM_011541501.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539803.1:p.Arg189GlnfsTer2
|
|
|
XM_011541502.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539804.1:p.Arg189GlnfsTer2
|
|
|
XM_011541503.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539805.1:p.Arg189GlnfsTer2
|
|
|
XM_011541504.1:c.556_557insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539806.1:p.Arg186GlnfsTer2
|
|
|
XM_011541505.1:c.145_146insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539807.1:p.Arg49GlnfsTer2
|
|
|
XM_011541506.1:c.145_146insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539808.1:p.Arg49GlnfsTer2
|
|
|
XM_011541507.1:c.136_137insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539809.1:p.Arg46GlnfsTer2
|
|
|
XM_011541508.1:c.151_152insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539810.1:p.Arg51GlnfsTer2
|
|
|
XR_946658.1:n.654_655insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
NM_001350650.1:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001337579.1:p.Arg60GlnfsTer2
|
|
|
NM_001350651.1:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001337580.1:p.Arg60GlnfsTer2
|
|
|
NR_146882.1:n.781_782insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
NR_146883.1:n.595_596insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
XM_011541497.3:c.583_584insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539799.1:p.Arg195GlnfsTer2
|
|
|
XM_011541500.3:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539802.1:p.Arg189GlnfsTer2
|
|
|
XM_011541501.2:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539803.1:p.Arg189GlnfsTer2
|
|
|
XM_011541502.2:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539804.1:p.Arg189GlnfsTer2
|
|
|
XM_011541503.2:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539805.1:p.Arg189GlnfsTer2
|
|
|
XM_011541504.2:c.556_557insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539806.1:p.Arg186GlnfsTer2
|
|
|
XM_011541505.2:c.145_146insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539807.1:p.Arg49GlnfsTer2
|
|
|
XM_011541506.2:c.145_146insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_011539808.1:p.Arg49GlnfsTer2
|
|
|
XM_017001331.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_016856820.1:p.Arg189GlnfsTer2
|
|
|
XM_017001332.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_016856821.1:p.Arg189GlnfsTer2
|
|
|
XM_017001333.1:c.565_566insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_016856822.1:p.Arg189GlnfsTer2
|
|
|
XM_017001334.1:c.526_527insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_016856823.1:p.Arg176GlnfsTer2
|
|
|
XM_017001335.1:c.247_248insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_016856824.1:p.Arg83GlnfsTer2
|
|
|
XM_017001336.1:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_016856825.1:p.Arg60GlnfsTer2
|
|
|
XM_017001337.1:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_016856826.1:p.Arg60GlnfsTer2
|
|
|
XM_024447244.1:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_024303012.1:p.Arg60GlnfsTer2
|
|
|
XM_024447245.1:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_024303013.1:p.Arg60GlnfsTer2
|
|
|
XM_024447248.1:c.136_137insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_024303016.1:p.Arg46GlnfsTer2
|
|
|
XM_024447249.1:c.7_8insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_024303017.1:p.Arg3GlnfsTer2
|
|
|
XM_024447250.1:c.7_8insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_024303018.1:p.Arg3GlnfsTer2
|
|
|
XM_024447251.1:c.7_8insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
XP_024303019.1:p.Arg3GlnfsTer2
|
|
|
XR_001737190.1:n.568_569insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
XR_001737192.1:n.380_381insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
XR_002956643.1:n.560_561insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
XR_002956644.1:n.1095_1096insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
XR_946658.2:n.668_669insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
NM_001048171.2:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001041636.2:p.Arg175GlnfsTer2
|
|
|
NM_001128425.2:c.607_608insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
MANE Plus Clinical
|
NP_001121897.1:p.Arg203GlnfsTer2
|
|
|
NM_001048172.2:c.526_527insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001041637.1:p.Arg176GlnfsTer2
|
|
|
NM_001048173.2:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001041638.1:p.Arg175GlnfsTer2
|
|
|
NM_001048174.2:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
MANE Select
|
NP_001041639.1:p.Arg175GlnfsTer2
|
|
|
NM_001293190.2:c.568_569insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280119.1:p.Arg190GlnfsTer2
|
|
|
NM_001293191.2:c.556_557insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280120.1:p.Arg186GlnfsTer2
|
|
|
NM_001293192.2:c.247_248insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280121.1:p.Arg83GlnfsTer2
|
|
|
NM_001293195.2:c.523_524insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280124.1:p.Arg175GlnfsTer2
|
|
|
NM_001293196.2:c.247_248insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001280125.1:p.Arg83GlnfsTer2
|
|
|
NM_001350650.2:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001337579.1:p.Arg60GlnfsTer2
|
|
|
NM_001350651.2:c.178_179insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_001337580.1:p.Arg60GlnfsTer2
|
|
|
NM_012222.3:c.598_599insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
NP_036354.1:p.Arg200GlnfsTer2
|
|
|
NR_146882.2:n.751_752insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
|
NR_146883.2:n.600_601insAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAA
|
|
|
