Full data view for gene PPM1D

Information The variants shown are described using the NM_003620.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.90G>A r.(=) p.(=) g.58677865G>A Copied from the Exome Variant Server PPM1D_000001 644/12924 5/8548 639/4376 - - - - - - -
?/? c.126G>A r.(=) p.(=) g.58677901G>A Copied from the Exome Variant Server PPM1D_000002 1/12410 1/8230 0/4180 - - - - - - -
?/? c.131C>G r.(?) p.(Ser44Trp) g.58677906C>G Copied from the Exome Variant Server PPM1D_000003 2/12286 1/8156 1/4130 - - - - - - -
?/? c.281G>A r.(?) p.(Arg94His) g.58678056G>A Copied from the Exome Variant Server PPM1D_000004 1/11368 0/7620 1/3748 - - - - - - -
?/? c.439C>G r.(?) p.(Leu147Val) g.58678214C>G Copied from the Exome Variant Server PPM1D_000005 3/12076 3/8068 0/4008 - - - - - - -
?/? c.456C>T r.(=) p.(=) g.58678231C>T Copied from the Exome Variant Server PPM1D_000006 53/11850 50/7930 3/3920 - - - - - - -
?/? c.472+33T>A r.(=) p.(=) g.58678280T>A Copied from the Exome Variant Server PPM1D_000007 1/10690 0/7106 1/3584 - - - - - - -
?/? c.473-24G>A r.(=) p.(=) g.58700858G>A Copied from the Exome Variant Server PPM1D_000008 210/13006 1/8600 209/4406 - - - - - - -
?/? c.473-10C>G r.(=) p.(=) g.58700872C>G Copied from the Exome Variant Server PPM1D_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.568G>A r.(?) p.(Val190Ile) g.58700977G>A Copied from the Exome Variant Server PPM1D_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.617A>T r.(?) p.(Asp206Val) g.58701026A>T Copied from the Exome Variant Server PPM1D_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.625A>G r.(?) p.(Arg209Gly) g.58701034A>G Copied from the Exome Variant Server PPM1D_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.701+43A>C r.(=) p.(=) g.58701153A>C Copied from the Exome Variant Server PPM1D_000013 1/13004 0/8600 1/4404 - - - - - - -
?/? c.702-51_702-49del r.(=) p.(=) g.58711163_58711165del Copied from the Exome Variant Server PPM1D_000014 3/12500 0/8248 3/4252 - - - - - - -
?/? c.702-21A>G r.(=) p.(=) g.58711193A>G Copied from the Exome Variant Server PPM1D_000015 44/13006 40/8600 4/4406 - - - - - - -
?/? c.715T>G r.(?) p.(Ser239Ala) g.58711227T>G Copied from the Exome Variant Server PPM1D_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.826+45A>G r.(=) p.(=) g.58711383A>G Copied from the Exome Variant Server PPM1D_000017 2/13006 0/8600 2/4406 - - - - - - -
?/? c.826+48T>C r.(=) p.(=) g.58711386T>C Copied from the Exome Variant Server PPM1D_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.827-50C>G r.(=) p.(=) g.58725203C>G Copied from the Exome Variant Server PPM1D_000019 2/13006 0/8600 2/4406 - - - - - - -
?/? c.827-47_827-46del r.(=) p.(=) g.58725206_58725207del Copied from the Exome Variant Server PPM1D_000020 1/12518 0/8254 1/4264 - - - - - - -
?/? c.827-45A>G r.(=) p.(=) g.58725208A>G Copied from the Exome Variant Server PPM1D_000021 3/13006 3/8600 0/4406 - - - - - - -
?/? c.827-37A>G r.(=) p.(=) g.58725216A>G Copied from the Exome Variant Server PPM1D_000022 20/13006 0/8600 20/4406 - - - - - - -
?/? c.827-26T>C r.(=) p.(=) g.58725227T>C Copied from the Exome Variant Server PPM1D_000023 44/13006 0/8600 44/4406 - - - - - - -
?/? c.827-12C>A r.(=) p.(=) g.58725241C>A Copied from the Exome Variant Server PPM1D_000024 576/13006 19/8600 557/4406 - - - - - - -
?/? c.931T>C r.(=) p.(=) g.58725357T>C Copied from the Exome Variant Server PPM1D_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.938G>C r.(?) p.(Ser313Thr) g.58725364G>C Copied from the Exome Variant Server PPM1D_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.982A>G r.(?) p.(Met328Val) g.58725408A>G Copied from the Exome Variant Server PPM1D_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1012C>T r.(=) p.(=) g.58725438C>T Copied from the Exome Variant Server PPM1D_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1017+50T>C r.(=) p.(=) g.58725493T>C Copied from the Exome Variant Server PPM1D_000029 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1017+51A>G r.(=) p.(=) g.58725494A>G Copied from the Exome Variant Server PPM1D_000030 55/13004 50/8600 5/4404 - - - - - - -
?/? c.1058G>A r.(?) p.(Arg353Gln) g.58734000G>A Copied from the Exome Variant Server PPM1D_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1069C>T r.(?) p.(Arg357Cys) g.58734011C>T Copied from the Exome Variant Server PPM1D_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1113A>G r.(?) p.(Ile371Met) g.58734055A>G Copied from the Exome Variant Server PPM1D_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1127C>T r.(?) p.(Ser376Phe) g.58734069C>T Copied from the Exome Variant Server PPM1D_000034 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1149A>C r.(=) p.(=) g.58734091A>C Copied from the Exome Variant Server PPM1D_000035 110/13006 4/8600 106/4406 - - - - - - -
?/? c.1157C>T r.(?) p.(Thr386Ile) g.58734099C>T Copied from the Exome Variant Server PPM1D_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1202A>T r.(?) p.(Tyr401Phe) g.58734144A>T Copied from the Exome Variant Server PPM1D_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1260+3A>T r.spl? p.? g.58734205A>T Copied from the Exome Variant Server PPM1D_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1260+14T>C r.(=) p.(=) g.58734216T>C Copied from the Exome Variant Server PPM1D_000039 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1260+19T>G r.(=) p.(=) g.58734221T>G Copied from the Exome Variant Server PPM1D_000040 8/13000 0/8596 8/4404 - - - - - - -
?/? c.1261-28T>A r.(=) p.(=) g.58740328T>A Copied from the Exome Variant Server PPM1D_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1263A>T r.(=) p.(=) g.58740358A>T Copied from the Exome Variant Server PPM1D_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1340A>G r.(?) p.(Glu447Gly) g.58740435A>G Copied from the Exome Variant Server PPM1D_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1373G>A r.(?) p.(Arg458Gln) g.58740468G>A Copied from the Exome Variant Server PPM1D_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1403C>G r.(?) p.(Ser468*) g.58740498C>G Copied from the Exome Variant Server PPM1D_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1405A>G r.(?) p.(Lys469Glu) g.58740500A>G Copied from the Exome Variant Server PPM1D_000046 8/13006 4/8600 4/4406 - - - - - - -
?/? c.1408G>A r.(?) p.(Asp470Asn) g.58740503G>A Copied from the Exome Variant Server PPM1D_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1486A>G r.(?) p.(Ile496Val) g.58740581A>G Copied from the Exome Variant Server PPM1D_000048 13/13006 12/8600 1/4406 - - - - - - -
?/? c.1497G>C r.(=) p.(=) g.58740592G>C Copied from the Exome Variant Server PPM1D_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1501A>G r.(?) p.(Thr501Ala) g.58740596A>G Copied from the Exome Variant Server PPM1D_000050 41/13006 0/8600 41/4406 - - - - - - -
?/? c.1508C>A r.(?) p.(Ser503*) g.58740603C>A Copied from the Exome Variant Server PPM1D_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1525G>C r.(?) p.(Asp509His) g.58740620G>C Copied from the Exome Variant Server PPM1D_000052 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1528C>T r.(?) p.(Gln510*) g.58740623C>T Copied from the Exome Variant Server PPM1D_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1676G>A r.(?) p.(Ser559Asn) g.58740771G>A Copied from the Exome Variant Server PPM1D_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1690G>C r.(?) p.(Ala564Pro) g.58740785G>C Copied from the Exome Variant Server PPM1D_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1727T>G r.(?) p.(Val576Gly) g.58740822T>G Copied from the Exome Variant Server PPM1D_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1745G>A r.(?) p.(Arg582His) g.58740840G>A Copied from the Exome Variant Server PPM1D_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1815C>G r.(?) p.(Cys605Trp) g.58740910C>G Copied from the Exome Variant Server PPM1D_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1818_*1del r.(=) p.(=) g.58740913_58740914del Copied from the Exome Variant Server PPM1D_000059 1/12518 0/8254 1/4264 - - - - - - -
?/? c.*32_*33del r.(=) p.(=) g.58740945_58740946del Copied from the Exome Variant Server PPM1D_000060 1/12384 0/8198 1/4186 - - - - - - -
?/? c.*37A>G r.(=) p.(=) g.58740950A>G Copied from the Exome Variant Server PPM1D_000061 59/12848 56/8534 3/4314 - - - - - - -
?/? c.*38T>C r.(=) p.(=) g.58740951T>C Copied from the Exome Variant Server PPM1D_000062 1/12842 1/8532 0/4310 - - - - - - -
?/? c.*42A>G r.(=) p.(=) g.58740955A>G Copied from the Exome Variant Server PPM1D_000063 1/12756 1/8506 0/4250 - - - - - - -
?/? c.*43_*44insA r.(=) p.(=) g.58740956_58740957insA Copied from the Exome Variant Server PPM1D_000064 3/12202 2/8120 1/4082 - - - - - - -
Legend