Full data view for gene FRMPD4

Information The variants shown are described using the NM_014728.3 transcript reference sequence.

144 entries on 2 pages. Showing entries 1 - 100.
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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.-35G>A r.(=) p.(=) g.12157056G>A Copied from the Exome Variant Server FRMPD4_000001 1/10526 1/6698 0/3828 - - - - - - -
?/? c.-16G>C r.(=) p.(=) g.12157075G>C Copied from the Exome Variant Server FRMPD4_000002 5/10547 4/6714 1/3833 - - - - - - -
?/? c.26T>C r.(?) p.(Ile9Thr) g.12157116T>C Copied from the Exome Variant Server FRMPD4_000003 1/10554 1/6722 0/3832 - - - - - - -
?/? c.27T>A r.(=) p.(=) g.12157117T>A Copied from the Exome Variant Server FRMPD4_000004 1/10555 1/6723 0/3832 - - - - - - -
?/? c.42-21_42-20del r.(=) p.(=) g.12516778_12516779del Copied from the Exome Variant Server FRMPD4_000014 179/10204 117/6483 62/3721 - - - - - - -
?/? c.42-20del r.(=) p.(=) g.12516779del Copied from the Exome Variant Server FRMPD4_000006 3580/10204 2392/6483 1188/3721 - - - - - - -
?/? c.42-20dup r.(=) p.(=) g.12516779dup Copied from the Exome Variant Server FRMPD4_000005 1082/10204 661/6483 421/3721 - - - - - - -
?/? c.50C>T r.(?) p.(Thr17Met) g.12516807C>T Copied from the Exome Variant Server FRMPD4_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.78G>A r.(=) p.(=) g.12516835G>A Copied from the Exome Variant Server FRMPD4_000008 22/10563 0/6728 22/3835 - - - - - - -
?/? c.110A>G r.(?) p.(Tyr37Cys) g.12516867A>G Copied from the Exome Variant Server FRMPD4_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.125C>T r.(?) p.(Thr42Met) g.12516882C>T Copied from the Exome Variant Server FRMPD4_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.126G>A r.(=) p.(=) g.12516883G>A Copied from the Exome Variant Server FRMPD4_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.158+25A>T r.(=) p.(=) g.12516940A>T Copied from the Exome Variant Server FRMPD4_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.158+42A>G r.(=) p.(=) g.12516957A>G Copied from the Exome Variant Server FRMPD4_000013 25/10563 0/6728 25/3835 - - - - - - -
?/? c.221C>T r.(?) p.(Pro74Leu) g.12627902C>T Copied from the Exome Variant Server FRMPD4_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.223G>A r.(?) p.(Ala75Thr) g.12627904G>A Copied from the Exome Variant Server FRMPD4_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.319+36A>C r.(=) p.(=) g.12628036A>C Copied from the Exome Variant Server FRMPD4_000017 1428/10563 439/6728 989/3835 - - - - - - -
?/? c.319+49T>C r.(=) p.(=) g.12628049T>C Copied from the Exome Variant Server FRMPD4_000018 7130/10563 3858/6728 3272/3835 - - - - - - -
?/? c.388G>A r.(?) p.(Ala130Thr) g.12632966G>A Copied from the Exome Variant Server FRMPD4_000019 6/10563 6/6728 0/3835 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.12632989C>T Copied from the Exome Variant Server FRMPD4_000020 2/10563 0/6728 2/3835 - - - - - - -
?/? c.422+34T>C r.(=) p.(=) g.12633034T>C Copied from the Exome Variant Server FRMPD4_000021 7089/10563 3848/6728 3241/3835 - - - - - - -
?/? c.422+37G>A r.(=) p.(=) g.12633037G>A Copied from the Exome Variant Server FRMPD4_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.423-53T>C r.(=) p.(=) g.12692929T>C Copied from the Exome Variant Server FRMPD4_000023 47/3600 0/2391 47/1209 - - - - - - -
?/? c.423-46C>T r.(=) p.(=) g.12692936C>T Copied from the Exome Variant Server FRMPD4_000024 2/10563 2/6728 0/3835 - - - - - - -
?/? c.423-45G>A r.(=) p.(=) g.12692937G>A Copied from the Exome Variant Server FRMPD4_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.423-34A>G r.(=) p.(=) g.12692948A>G Copied from the Exome Variant Server FRMPD4_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.468+29del r.(=) p.(=) g.12693056del Copied from the Exome Variant Server FRMPD4_000027 1/10205 1/6484 0/3721 - - - - - - -
?/? c.474C>A r.(=) p.(=) g.12701607C>A Copied from the Exome Variant Server FRMPD4_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.519C>G r.(=) p.(=) g.12701652C>G Copied from the Exome Variant Server FRMPD4_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.574-40T>G r.(=) p.(=) g.12704176T>G Copied from the Exome Variant Server FRMPD4_000030 8/10563 0/6728 8/3835 - - - - - - -
?/? c.681+32C>T r.(=) p.(=) g.12704355C>T Copied from the Exome Variant Server FRMPD4_000031 15/10563 13/6728 2/3835 - - - - - - -
?/? c.682-46G>A r.(=) p.(=) g.12708268G>A Copied from the Exome Variant Server FRMPD4_000032 2/10563 2/6728 0/3835 - - - - - - -
?/? c.682-23C>T r.(=) p.(=) g.12708291C>T Copied from the Exome Variant Server FRMPD4_000033 5/10563 4/6728 1/3835 - - - - - - -
?/? c.741C>G r.(=) p.(=) g.12708373C>G Copied from the Exome Variant Server FRMPD4_000034 162/10563 0/6728 162/3835 - - - - - - -
?/? c.773C>T r.(?) p.(Thr258Met) g.12708405C>T Copied from the Exome Variant Server FRMPD4_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.774G>A r.(=) p.(=) g.12708406G>A Copied from the Exome Variant Server FRMPD4_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.813+20C>G r.(=) p.(=) g.12708465C>G Copied from the Exome Variant Server FRMPD4_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.934-50G>A r.(=) p.(=) g.12719943G>A Copied from the Exome Variant Server FRMPD4_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.975G>A r.(=) p.(=) g.12720034G>A Copied from the Exome Variant Server FRMPD4_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1021G>A r.(?) p.(Ala341Thr) g.12720080G>A Copied from the Exome Variant Server FRMPD4_000040 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1026C>T r.(=) p.(=) g.12720085C>T Copied from the Exome Variant Server FRMPD4_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1070+27C>T r.(=) p.(=) g.12720156C>T Copied from the Exome Variant Server FRMPD4_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1070+42C>T r.(=) p.(=) g.12720171C>T Copied from the Exome Variant Server FRMPD4_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1071-48A>G r.(=) p.(=) g.12722430A>G Copied from the Exome Variant Server FRMPD4_000044 6/10563 5/6728 1/3835 - - - - - - -
?/? c.1071-11C>T r.(=) p.(=) g.12722467C>T Copied from the Exome Variant Server FRMPD4_000045 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1187C>T r.(?) p.(Pro396Leu) g.12722594C>T Copied from the Exome Variant Server FRMPD4_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1197+12C>G r.(=) p.(=) g.12722616C>G Copied from the Exome Variant Server FRMPD4_000047 10508/10563 6675/6728 3833/3835 - - - - - - -
?/? c.1218G>A r.(=) p.(=) g.12724965G>A Copied from the Exome Variant Server FRMPD4_000048 5/10563 5/6728 0/3835 - - - - - - -
?/? c.1301G>T r.(?) p.(Arg434Leu) g.12725601G>T Copied from the Exome Variant Server FRMPD4_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1351A>G r.(?) p.(Ile451Val) g.12725651A>G Copied from the Exome Variant Server FRMPD4_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1398C>T r.(=) p.(=) g.12725698C>T Copied from the Exome Variant Server FRMPD4_000051 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1399G>A r.(?) p.(Val467Ile) g.12725699G>A Copied from the Exome Variant Server FRMPD4_000052 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1401C>G r.(=) p.(=) g.12725701C>G Copied from the Exome Variant Server FRMPD4_000053 944/10563 804/6728 140/3835 - - - - - - -
?/? c.1452C>G r.(=) p.(=) g.12725752C>G Copied from the Exome Variant Server FRMPD4_000054 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1453C>T r.(?) p.(His485Tyr) g.12725753C>T Copied from the Exome Variant Server FRMPD4_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1470+9C>T r.(=) p.(=) g.12725779C>T Copied from the Exome Variant Server FRMPD4_000056 684/10563 6/6728 678/3835 - - - - - - -
?/? c.1471-29del r.(=) p.(=) g.12728489del Copied from the Exome Variant Server FRMPD4_000057 4/10205 3/6484 1/3721 - - - - - - -
?/? c.1513G>A r.(?) p.(Ala505Thr) g.12728560G>A Copied from the Exome Variant Server FRMPD4_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1609+8C>T r.(=) p.(=) g.12728664C>T Copied from the Exome Variant Server FRMPD4_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1610-18G>A r.(=) p.(=) g.12734170G>A Copied from the Exome Variant Server FRMPD4_000060 1/10560 0/6725 1/3835 - - - - - - -
?/? c.1610-6C>G r.(=) p.(=) g.12734182C>G Copied from the Exome Variant Server FRMPD4_000061 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1649A>G r.(?) p.(Asp550Gly) g.12734227A>G Copied from the Exome Variant Server FRMPD4_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1686C>T r.(=) p.(=) g.12734264C>T Copied from the Exome Variant Server FRMPD4_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1728G>A r.(=) p.(=) g.12734306G>A Copied from the Exome Variant Server FRMPD4_000064 8/10563 0/6728 8/3835 - - - - - - -
?/? c.1736C>T r.(?) p.(Thr579Met) g.12734314C>T Copied from the Exome Variant Server FRMPD4_000065 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1821C>T r.(=) p.(=) g.12734399C>T Copied from the Exome Variant Server FRMPD4_000066 113/10563 2/6728 111/3835 - - - - - - -
?/? c.1891T>C r.(=) p.(=) g.12734469T>C Copied from the Exome Variant Server FRMPD4_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1894A>G r.(?) p.(Thr632Ala) g.12734472A>G Copied from the Exome Variant Server FRMPD4_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1896C>A r.(=) p.(=) g.12734474C>A Copied from the Exome Variant Server FRMPD4_000069 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1897C>A r.(?) p.(Leu633Ile) g.12734475C>A Copied from the Exome Variant Server FRMPD4_000070 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1925C>T r.(?) p.(Ala642Val) g.12734503C>T Copied from the Exome Variant Server FRMPD4_000071 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1938G>A r.(=) p.(=) g.12734516G>A Copied from the Exome Variant Server FRMPD4_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2007T>C r.(=) p.(=) g.12734585T>C Copied from the Exome Variant Server FRMPD4_000073 1077/10563 15/6728 1062/3835 - - - - - - -
?/? c.2022A>G r.(=) p.(=) g.12734600A>G Copied from the Exome Variant Server FRMPD4_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2072G>T r.(?) p.(Gly691Val) g.12734650G>T Copied from the Exome Variant Server FRMPD4_000075 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2081A>G r.(?) p.(Asn694Ser) g.12734659A>G Copied from the Exome Variant Server FRMPD4_000076 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2155A>G r.(?) p.(Ile719Val) g.12734733A>G Copied from the Exome Variant Server FRMPD4_000077 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2161G>A r.(?) p.(Asp721Asn) g.12734739G>A Copied from the Exome Variant Server FRMPD4_000078 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2243C>G r.(?) p.(Ala748Gly) g.12734821C>G Copied from the Exome Variant Server FRMPD4_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2250C>T r.(=) p.(=) g.12734828C>T Copied from the Exome Variant Server FRMPD4_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2301G>A r.(=) p.(=) g.12734879G>A Copied from the Exome Variant Server FRMPD4_000081 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2494G>A r.(?) p.(Glu832Lys) g.12735072G>A Copied from the Exome Variant Server FRMPD4_000082 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2549T>A r.(?) p.(Ile850Asn) g.12735127T>A Copied from the Exome Variant Server FRMPD4_000083 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2569G>A r.(?) p.(Ala857Thr) g.12735147G>A Copied from the Exome Variant Server FRMPD4_000084 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2599A>G r.(?) p.(Asn867Asp) g.12735177A>G Copied from the Exome Variant Server FRMPD4_000085 4/10563 4/6728 0/3835 - - - - - - -
?/? c.2605G>A r.(?) p.(Val869Ile) g.12735183G>A Copied from the Exome Variant Server FRMPD4_000086 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2640C>T r.(=) p.(=) g.12735218C>T Copied from the Exome Variant Server FRMPD4_000087 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2641G>A r.(?) p.(Val881Met) g.12735219G>A Copied from the Exome Variant Server FRMPD4_000088 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2674+27C>A r.(=) p.(=) g.12735279C>A Copied from the Exome Variant Server FRMPD4_000089 12/10563 11/6728 1/3835 - - - - - - -
?/? c.2674+41T>A r.(=) p.(=) g.12735293T>A Copied from the Exome Variant Server FRMPD4_000090 12/10563 10/6728 2/3835 - - - - - - -
?/? c.2675-18G>A r.(=) p.(=) g.12735602G>A Copied from the Exome Variant Server FRMPD4_000091 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2712G>A r.(=) p.(=) g.12735657G>A Copied from the Exome Variant Server FRMPD4_000092 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2760T>C r.(=) p.(=) g.12735705T>C Copied from the Exome Variant Server FRMPD4_000093 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2805G>A r.(?) p.(Met935Ile) g.12735750G>A Copied from the Exome Variant Server FRMPD4_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2829C>T r.(=) p.(=) g.12735774C>T Copied from the Exome Variant Server FRMPD4_000095 7/10563 0/6728 7/3835 - - - - - - -
?/? c.2841A>G r.(=) p.(=) g.12735786A>G Copied from the Exome Variant Server FRMPD4_000096 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2856G>A r.(=) p.(=) g.12735801G>A Copied from the Exome Variant Server FRMPD4_000097 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2877C>T r.(=) p.(=) g.12735822C>T Copied from the Exome Variant Server FRMPD4_000098 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2878G>A r.(?) p.(Ala960Thr) g.12735823G>A Copied from the Exome Variant Server FRMPD4_000099 7/10563 7/6728 0/3835 - - - - - - -
?/? c.2881G>A r.(?) p.(Gly961Arg) g.12735826G>A Copied from the Exome Variant Server FRMPD4_000100 1/10563 0/6728 1/3835 - - - - - - -
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