|
ENST00000524561.2:n.3068del
|
|
|
|
ENST00000528374.2:c.78del
|
|
|
|
ENST00000529967.6:n.1838del
|
|
|
|
ENST00000532220.2:n.1231del
|
|
|
|
ENST00000642611.2:n.3568del
|
|
|
|
ENST00000645004.2:n.998del
|
|
|
|
ENST00000682051.1:n.3515del
|
|
|
|
ENST00000682110.1:n.3568del
|
|
|
|
ENST00000682140.1:c.3496del
|
ENSP00000507829.1:p.Leu1166SerfsTer?
|
|
|
ENST00000682185.1:n.4804del
|
|
|
|
ENST00000682204.1:c.*1637del
|
ENSP00000507094.1:n.*1637del
|
|
|
ENST00000682215.1:n.3565del
|
|
|
|
ENST00000682288.1:c.*1930del
|
ENSP00000507506.1:n.*1930del
|
|
|
ENST00000682442.1:n.3788del
|
|
|
|
ENST00000682528.1:n.3645del
|
|
|
|
ENST00000682673.1:n.3512del
|
|
|
|
ENST00000682805.1:n.3565del
|
|
|
|
ENST00000682965.1:c.3396+924del
|
ENSP00000508229.1:n.3396+924del
|
|
|
ENST00000683093.1:n.3667del
|
|
|
|
ENST00000683136.1:c.3496del
|
ENSP00000507768.1:p.Leu1166SerfsTer?
|
|
|
ENST00000683153.1:n.3724del
|
|
|
|
ENST00000683365.1:n.3670del
|
|
|
|
ENST00000683377.1:n.3568del
|
|
|
|
ENST00000683456.1:c.*636del
|
ENSP00000508318.1:n.*636del
|
|
|
ENST00000683522.1:n.3568del
|
|
|
|
ENST00000683562.1:c.*1668del
|
ENSP00000508265.1:n.*1668del
|
|
|
ENST00000683693.1:n.3645del
|
|
|
|
ENST00000683725.1:c.3499del
|
ENSP00000507496.1:p.Leu1167SerfsTer?
|
|
|
ENST00000684010.1:n.3563del
|
|
|
|
ENST00000684157.1:n.3568del
|
|
|
|
ENST00000684253.1:n.3471del
|
|
|
|
ENST00000684288.1:c.*1671del
|
ENSP00000507143.1:n.*1671del
|
|
|
ENST00000684313.1:n.3000del
|
|
|
|
ENST00000684332.1:n.3641del
|
|
|
|
ENST00000684371.1:n.3674del
|
|
|
|
ENST00000684404.1:n.3611del
|
|
|
|
ENST00000684442.1:n.3568del
|
|
|
|
ENST00000684555.1:c.*1711del
|
ENSP00000507705.1:n.*1711del
|
|
|
ENST00000684571.1:c.3340del
|
ENSP00000506935.1:p.Leu1114SerfsTer?
|
|
|
ENST00000684593.1:c.*3204del
|
ENSP00000507005.1:n.*3204del
|
|
|
ENST00000684711.1:c.*1895del
|
ENSP00000506841.1:n.*1895del
|
|
|
ENST00000302539.9:c.3502del
|
ENSP00000303960.4:p.Leu1168SerfsTer?
|
|
|
ENST00000389817.8:c.3499del
MANE Select
|
ENSP00000374467.4:p.Leu1167SerfsTer?
|
|
|
ENST00000642271.1:c.3496del
|
ENSP00000493749.1:p.Leu1166SerfsTer?
|
|
|
ENST00000642579.1:c.1583del
|
|
|
|
ENST00000642611.1:n.3453del
|
|
|
|
ENST00000642902.1:c.3281del
|
|
|
|
ENST00000643260.1:c.3499del
|
ENSP00000494450.1:p.Leu1167SerfsTer?
|
|
|
ENST00000643562.1:c.*1475del
|
ENSP00000496124.1:n.*1475del
|
|
|
ENST00000643925.1:c.1623del
|
|
|
|
ENST00000644447.1:c.1855del
|
ENSP00000496282.1:p.Leu619SerfsTer?
|
|
|
ENST00000644484.1:c.*1754del
|
ENSP00000493558.1:n.*1754del
|
|
|
ENST00000644675.1:c.*1671del
|
ENSP00000494567.1:n.*1671del
|
|
|
ENST00000644757.1:c.*1784del
|
ENSP00000495085.1:n.*1784del
|
|
|
ENST00000644772.1:c.3565del
|
ENSP00000494321.1:p.Leu1189SerfsTer?
|
|
|
ENST00000645004.1:n.638del
|
|
|
|
ENST00000645076.1:c.2698del
|
|
|
|
ENST00000645417.1:c.665del
|
|
|
|
ENST00000645744.1:c.*1763del
|
ENSP00000494564.1:n.*1763del
|
|
|
ENST00000645760.1:c.3774del
|
|
|
|
ENST00000645884.1:c.*636del
|
ENSP00000495516.1:n.*636del
|
|
|
ENST00000646003.1:c.*1455del
|
ENSP00000495259.1:n.*1455del
|
|
|
ENST00000646207.1:c.*1966del
|
ENSP00000495025.1:n.*1966del
|
|
|
ENST00000646276.1:c.*1772del
|
ENSP00000496070.1:n.*1772del
|
|
|
ENST00000646592.1:c.2805del
|
|
|
|
ENST00000646902.1:c.3496del
|
ENSP00000494101.1:p.Leu1166SerfsTer?
|
|
|
ENST00000646993.1:c.*1895del
|
ENSP00000493720.1:n.*1895del
|
|
|
ENST00000647013.1:c.3505del
|
ENSP00000496741.1:n.3505del
|
|
|
ENST00000647015.1:c.3250del
|
ENSP00000495389.1:p.Leu1084SerfsTer?
|
|
|
ENST00000647086.1:c.*3229del
|
ENSP00000493677.1:n.*3229del
|
|
|
ENST00000647158.1:c.*1640del
|
ENSP00000495744.1:n.*1640del
|
|
|
ENST00000302539.8:c.3502del
|
ENSP00000303960.4:p.Leu1168SerfsTer?
|
|
|
ENST00000389817.7:c.3499del
|
ENSP00000374467.3:p.Leu1167SerfsTer?
|
|
|
ENST00000524561.1:n.631del
|
|
|
|
ENST00000527905.5:c.*375del
|
ENSP00000431653.1:n.*375del
|
|
|
NM_000352.4:c.3499del
|
NP_000343.2:p.Leu1167SerfsTer?
|
|
|
NM_001287174.1:c.3502del
|
NP_001274103.1:p.Leu1168SerfsTer?
|
|
|
XM_011520331.1:c.3499del
|
XP_011518633.1:p.Leu1167SerfsTer?
|
|
|
XM_011520332.1:c.3502del
|
XP_011518634.1:p.Leu1168SerfsTer?
|
|
|
XM_011520333.1:c.1999del
|
XP_011518635.1:p.Leu667SerfsTer?
|
|
|
XR_930890.1:n.3565del
|
|
|
|
XR_930892.1:n.3465del
|
|
|
|
XR_930893.1:n.3462del
|
|
|
|
NM_001351295.1:c.3565del
|
NP_001338224.1:p.Leu1189SerfsTer?
|
|
|
NM_001351296.1:c.3499del
|
NP_001338225.1:p.Leu1167SerfsTer?
|
|
|
NM_001351297.1:c.3496del
|
NP_001338226.1:p.Leu1166SerfsTer?
|
|
|
NR_147094.1:n.3648del
|
|
|
|
XM_017018197.2:c.3568del
|
XP_016873686.1:p.Leu1190SerfsTer?
|
|
|
XM_017018199.1:c.3565del
|
XP_016873688.1:p.Leu1189SerfsTer?
|
|
|
XM_017018201.2:c.3568del
|
XP_016873690.1:p.Leu1190SerfsTer?
|
|
|
XM_017018202.1:c.2065del
|
XP_016873691.1:p.Leu689SerfsTer?
|
|
|
XM_017018204.1:c.1456del
|
XP_016873693.1:p.Leu486SerfsTer?
|
|
|
XM_024448668.1:c.1867del
|
XP_024304436.1:p.Leu623SerfsTer?
|
|
|
XR_001747945.2:n.3640del
|
|
|
|
XR_001747946.2:n.3571del
|
|
|
|
XR_002957189.1:n.3720del
|
|
|
|
NM_000352.6:c.3499del
MANE Select
|
NP_000343.2:p.Leu1167SerfsTer?
|
|
|
NM_001287174.2:c.3502del
|
NP_001274103.1:p.Leu1168SerfsTer?
|
|
|
NM_001351295.2:c.3565del
|
NP_001338224.1:p.Leu1189SerfsTer?
|
|
|
NM_001351296.2:c.3499del
|
NP_001338225.1:p.Leu1167SerfsTer?
|
|
|
NM_001351297.2:c.3496del
|
NP_001338226.1:p.Leu1166SerfsTer?
|
|
|
NR_147094.2:n.3648del
|
|
|
|
NM_001287174.3:c.3502del
|
NP_001274103.1:p.Leu1168SerfsTer?
|
|
