Full data view for gene POU4F1

Information The variants shown are described using the NM_006237.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.-44C>A r.(=) p.(=) g.79177505G>T Copied from the Exome Variant Server POU4F1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-43G>A r.(=) p.(=) g.79177504C>T Copied from the Exome Variant Server POU4F1_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-34G>T r.(=) p.(=) g.79177495C>A Copied from the Exome Variant Server POU4F1_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-26G>C r.(=) p.(=) g.79177487C>G Copied from the Exome Variant Server POU4F1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-6G>A r.(=) p.(=) g.79177467C>T Copied from the Exome Variant Server POU4F1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.58C>T r.(?) p.(His20Tyr) g.79177404G>A Copied from the Exome Variant Server POU4F1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.123+6C>A r.(=) p.(=) g.79177333G>T Copied from the Exome Variant Server POU4F1_000039 1/12702 1/8420 0/4282 - - - - - - -
?/? c.123+7G>T r.(=) p.(=) g.79177332C>A Copied from the Exome Variant Server POU4F1_000038 1/12664 1/8398 0/4266 - - - - - - -
?/? c.123+8C>T r.(=) p.(=) g.79177331G>A Copied from the Exome Variant Server POU4F1_000037 16/12666 0/8400 16/4266 - - - - - - -
?/? c.123+13C>T r.(=) p.(=) g.79177326G>A Copied from the Exome Variant Server POU4F1_000036 1/12628 1/8378 0/4250 - - - - - - -
?/? c.123+19C>T r.(=) p.(=) g.79177320G>A Copied from the Exome Variant Server POU4F1_000035 17/12368 0/8154 17/4214 - - - - - - -
?/? c.124-46T>A r.(=) p.(=) g.79176732A>T Copied from the Exome Variant Server POU4F1_000034 4/12792 0/8480 4/4312 - - - - - - -
?/? c.136C>T r.(?) p.(Leu46Phe) g.79176674G>A Copied from the Exome Variant Server POU4F1_000033 49/12990 47/8590 2/4400 - - - - - - -
?/? c.192G>A r.(=) p.(=) g.79176618C>T Copied from the Exome Variant Server POU4F1_000032 121/12988 0/8590 121/4398 - - - - - - -
?/? c.201C>T r.(=) p.(=) g.79176609G>A Copied from the Exome Variant Server POU4F1_000031 2/13000 0/8596 2/4404 - - - - - - -
?/? c.223C>G r.(?) p.(Pro75Ala) g.79176587G>C Copied from the Exome Variant Server POU4F1_000030 2/13002 0/8600 2/4402 - - - - - - -
?/? c.264G>A r.(=) p.(=) g.79176546C>T Copied from the Exome Variant Server POU4F1_000029 1/12978 1/8598 0/4380 - - - - - - -
?/? c.266C>G r.(?) p.(Pro89Arg) g.79176544G>C Copied from the Exome Variant Server POU4F1_000028 1/12974 1/8594 0/4380 - - - - - - -
?/? c.282C>G r.(=) p.(=) g.79176528G>C Copied from the Exome Variant Server POU4F1_000027 1/12956 1/8578 0/4378 - - - - - - -
?/? c.283A>G r.(?) p.(Thr95Ala) g.79176527T>C Copied from the Exome Variant Server POU4F1_000026 8/12952 7/8578 1/4374 - - - - - - -
?/? c.285G>A r.(=) p.(=) g.79176525C>T Copied from the Exome Variant Server POU4F1_000025 128/12924 2/8564 126/4360 - - - - - - -
?/? c.297G>T r.(=) p.(=) g.79176513C>A Copied from the Exome Variant Server POU4F1_000024 2/12818 0/8500 2/4318 - - - - - - -
?/? c.321_323del r.(?) p.(His108del) g.79176487_79176489del Copied from the Exome Variant Server POU4F1_000022 1502/11232 974/7456 528/3776 - - - - - - -
?/? c.321_323dup r.(?) p.(His108dup) g.79176487_79176489dup Copied from the Exome Variant Server POU4F1_000023 24/11232 21/7456 3/3776 - - - - - - -
?/? c.321_326del r.(?) p.(His107_His108del) g.79176484_79176489del Copied from the Exome Variant Server POU4F1_000021 100/11232 73/7456 27/3776 - - - - - - -
?/? c.760_762del r.(?) p.(Gly254del) g.79176048_79176050del Copied from the Exome Variant Server POU4F1_000020 9/11162 4/7372 5/3790 - - - - - - -
?/? c.804C>T r.(=) p.(=) g.79176006G>A Copied from the Exome Variant Server POU4F1_000019 2/12974 0/8586 2/4388 - - - - - - -
?/? c.846G>A r.(=) p.(=) g.79175964C>T Copied from the Exome Variant Server POU4F1_000018 3/12998 2/8596 1/4402 - - - - - - -
?/? c.861C>G r.(=) p.(=) g.79175949G>C Copied from the Exome Variant Server POU4F1_000017 11/12998 10/8596 1/4402 - - - - - - -
?/? c.873G>A r.(=) p.(=) g.79175937C>T Copied from the Exome Variant Server POU4F1_000016 1/13004 1/8600 0/4404 - - - - - - -
?/? c.900C>T r.(=) p.(=) g.79175910G>A Copied from the Exome Variant Server POU4F1_000015 1/13004 0/8600 1/4404 - - - - - - -
?/? c.906C>T r.(=) p.(=) g.79175904G>A Copied from the Exome Variant Server POU4F1_000014 1/13004 0/8600 1/4404 - - - - - - -
?/? c.981C>T r.(=) p.(=) g.79175829G>A Copied from the Exome Variant Server POU4F1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1023C>T r.(=) p.(=) g.79175787G>A Copied from the Exome Variant Server POU4F1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1038G>A r.(=) p.(=) g.79175772C>T Copied from the Exome Variant Server POU4F1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1039C>A r.(?) p.(Pro347Thr) g.79175771G>T Copied from the Exome Variant Server POU4F1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1083C>T r.(=) p.(=) g.79175727G>A Copied from the Exome Variant Server POU4F1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1092G>A r.(=) p.(=) g.79175718C>T Copied from the Exome Variant Server POU4F1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1122C>T r.(=) p.(=) g.79175688G>A Copied from the Exome Variant Server POU4F1_000007 14/13006 13/8600 1/4406 - - - - - - -
?/? c.1176G>A r.(=) p.(=) g.79175634C>T Copied from the Exome Variant Server POU4F1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1184A>G r.(?) p.(Lys395Arg) g.79175626T>C Copied from the Exome Variant Server POU4F1_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1200G>A r.(=) p.(=) g.79175610C>T Copied from the Exome Variant Server POU4F1_000004 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*12G>A r.(=) p.(=) g.79175538C>T Copied from the Exome Variant Server POU4F1_000003 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*29A>C r.(=) p.(=) g.79175521T>G Copied from the Exome Variant Server POU4F1_000002 3/13006 0/8600 3/4406 - - - - - - -
?/? c.*44A>C r.(=) p.(=) g.79175506T>G Copied from the Exome Variant Server POU4F1_000001 1/13006 1/8600 0/4406 - - - - - - -
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