All transcript variants in gene PPEF1

Information The variants shown are described using the NM_006240.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.23C>T r.(?) p.(Thr8Met) g.18725922C>T Copied from the Exome Variant Server PPEF1_000001 1/10563 1/6728 0/3835
?/? c.145G>A r.(?) p.(Glu49Lys) g.18748397G>A Copied from the Exome Variant Server PPEF1_000002 1/10563 1/6728 0/3835
?/? c.174+32T>C r.(=) p.(=) g.18748458T>C Copied from the Exome Variant Server PPEF1_000003 1/10563 0/6728 1/3835
?/? c.174+44C>G r.(=) p.(=) g.18748470C>G Copied from the Exome Variant Server PPEF1_000004 1/10563 0/6728 1/3835
?/? c.175-20del r.(=) p.(=) g.18751846del Copied from the Exome Variant Server PPEF1_000006 181/10179 120/6476 61/3703
?/? c.175-20dup r.(=) p.(=) g.18751846dup Copied from the Exome Variant Server PPEF1_000005 44/10179 34/6476 10/3703
?/? c.235+45A>G r.(=) p.(=) g.18751971A>G Copied from the Exome Variant Server PPEF1_000007 7/10533 0/6713 7/3820
?/? c.236-44_236-33del r.(=) p.(=) g.18767866_18767877del Copied from the Exome Variant Server PPEF1_000008 33/9294 14/5882 19/3412
?/? c.236-35_236-34insCC r.(=) p.(=) g.18767875_18767876insCC Copied from the Exome Variant Server PPEF1_000009 264/9772 97/6191 167/3581
?/? c.236-33C>T r.(=) p.(=) g.18767877C>T Copied from the Exome Variant Server PPEF1_000010 17/10398 1/6593 16/3805
?/? c.236-31_236-29del r.(=) p.(=) g.18767879_18767881del Copied from the Exome Variant Server PPEF1_000011 308/9877 112/6259 196/3618
?/? c.236-30_236-29del r.(=) p.(=) g.18767880_18767881del Copied from the Exome Variant Server PPEF1_000012 364/9943 134/6302 230/3641
?/? c.236-29del r.(=) p.(=) g.18767881del Copied from the Exome Variant Server PPEF1_000013 421/9979 171/6326 250/3653
?/? c.236-29_236-28insC r.(=) p.(=) g.18767881_18767882insC Copied from the Exome Variant Server PPEF1_000014 322/9622 203/6205 119/3417
?/? c.251C>A r.(?) p.(Ser84Tyr) g.18767925C>A Copied from the Exome Variant Server PPEF1_000015 1/10563 1/6728 0/3835
?/? c.260G>A r.(?) p.(Ser87Asn) g.18767934G>A Copied from the Exome Variant Server PPEF1_000016 1/10563 0/6728 1/3835
?/? c.271A>T r.(?) p.(Met91Leu) g.18767945A>T Copied from the Exome Variant Server PPEF1_000017 19/10563 1/6728 18/3835
?/? c.286G>C r.(?) p.(Asp96His) g.18767960G>C Copied from the Exome Variant Server PPEF1_000018 1/10563 1/6728 0/3835
?/? c.297C>T r.(=) p.(=) g.18767971C>T Copied from the Exome Variant Server PPEF1_000019 7/10563 1/6728 6/3835
?/? c.389A>C r.(?) p.(Glu130Ala) g.18768063A>C Copied from the Exome Variant Server PPEF1_000020 3/10563 3/6728 0/3835
?/? c.396+14G>C r.(=) p.(=) g.18768084G>C Copied from the Exome Variant Server PPEF1_000021 1/10563 1/6728 0/3835
?/? c.397-8G>A r.(=) p.(=) g.18775737G>A Copied from the Exome Variant Server PPEF1_000022 1/10563 1/6728 0/3835
?/? c.462G>A r.(=) p.(=) g.18775810G>A Copied from the Exome Variant Server PPEF1_000023 3/10563 0/6728 3/3835
?/? c.468C>T r.(=) p.(=) g.18775816C>T Copied from the Exome Variant Server PPEF1_000024 5/10563 4/6728 1/3835
?/? c.473A>G r.(?) p.(His158Arg) g.18775821A>G Copied from the Exome Variant Server PPEF1_000025 2/10563 0/6728 2/3835
?/? c.512-75del r.(=) p.(=) g.18779573del Copied from the Exome Variant Server PPEF1_000026 1/10203 1/6484 0/3719
?/? c.558+27A>G r.(=) p.(=) g.18779721A>G Copied from the Exome Variant Server PPEF1_000027 6104/10563 3810/6728 2294/3835
?/? c.559-43A>G r.(=) p.(=) g.18797085A>G Copied from the Exome Variant Server PPEF1_000028 55/10561 0/6728 55/3833
?/? c.559-37T>C r.(=) p.(=) g.18797091T>C Copied from the Exome Variant Server PPEF1_000029 8/10561 8/6728 0/3833
?/? c.559-19C>A r.(=) p.(=) g.18797109C>A Copied from the Exome Variant Server PPEF1_000030 4/10563 4/6728 0/3835
?/? c.559-15C>T r.(=) p.(=) g.18797113C>T Copied from the Exome Variant Server PPEF1_000031 5/10563 0/6728 5/3835
?/? c.559-4del r.spl? p.? g.18797124del Copied from the Exome Variant Server PPEF1_000032 1/10205 0/6484 1/3721
?/? c.567C>T r.(=) p.(=) g.18797136C>T Copied from the Exome Variant Server PPEF1_000033 274/10563 3/6728 271/3835
?/? c.636C>A r.(=) p.(=) g.18797205C>A Copied from the Exome Variant Server PPEF1_000034 5/10563 0/6728 5/3835
?/? c.648G>A r.(=) p.(=) g.18797217G>A Copied from the Exome Variant Server PPEF1_000035 1/10563 0/6728 1/3835
?/? c.674A>G r.(?) p.(Asn225Ser) g.18797243A>G Copied from the Exome Variant Server PPEF1_000036 1/10563 1/6728 0/3835
?/? c.699C>T r.(=) p.(=) g.18797268C>T Copied from the Exome Variant Server PPEF1_000037 4/10563 0/6728 4/3835
?/? c.702C>T r.(=) p.(=) g.18797271C>T Copied from the Exome Variant Server PPEF1_000038 2/10563 2/6728 0/3835
?/? c.725+39G>A r.(=) p.(=) g.18797333G>A Copied from the Exome Variant Server PPEF1_000039 46/10563 3/6728 43/3835
?/? c.726-12A>G r.(=) p.(=) g.18800472A>G Copied from the Exome Variant Server PPEF1_000040 11/10557 0/6726 11/3831
?/? c.726-11del r.(=) p.(=) g.18800473del Copied from the Exome Variant Server PPEF1_000041 12/10197 7/6480 5/3717
?/? c.817A>G r.(?) p.(Ile273Val) g.18802071A>G Copied from the Exome Variant Server PPEF1_000042 9/10563 1/6728 8/3835
?/? c.819C>T r.(=) p.(=) g.18802073C>T Copied from the Exome Variant Server PPEF1_000043 1/10563 0/6728 1/3835
?/? c.836A>G r.(?) p.(Asn279Ser) g.18802090A>G Copied from the Exome Variant Server PPEF1_000044 1/10563 1/6728 0/3835
?/? c.895C>T r.(?) p.(Arg299Cys) g.18802149C>T Copied from the Exome Variant Server PPEF1_000045 1/10563 0/6728 1/3835
?/? c.900A>G r.(=) p.(=) g.18802154A>G Copied from the Exome Variant Server PPEF1_000046 177/10563 0/6728 177/3835
?/? c.928A>G r.(?) p.(Ile310Val) g.18807254A>G Copied from the Exome Variant Server PPEF1_000047 1/10563 1/6728 0/3835
?/? c.938C>T r.(?) p.(Thr313Met) g.18807264C>T Copied from the Exome Variant Server PPEF1_000048 3/10563 0/6728 3/3835
?/? c.939G>A r.(=) p.(=) g.18807265G>A Copied from the Exome Variant Server PPEF1_000049 1/10563 0/6728 1/3835
?/? c.967T>C r.(?) p.(Ser323Pro) g.18807293T>C Copied from the Exome Variant Server PPEF1_000050 1/10563 1/6728 0/3835
?/? c.968C>T r.(?) p.(Ser323Leu) g.18807294C>T Copied from the Exome Variant Server PPEF1_000051 1/10563 0/6728 1/3835
?/? c.1065+11A>G r.(=) p.(=) g.18807402A>G Copied from the Exome Variant Server PPEF1_000052 1/10563 0/6728 1/3835
?/? c.1065+35A>G r.(=) p.(=) g.18807426A>G Copied from the Exome Variant Server PPEF1_000053 1/10563 1/6728 0/3835
?/? c.1065+46G>A r.(=) p.(=) g.18807437G>A Copied from the Exome Variant Server PPEF1_000054 4/10563 2/6728 2/3835
?/? c.1080G>A r.(=) p.(=) g.18822024G>A Copied from the Exome Variant Server PPEF1_000055 1/10563 1/6728 0/3835
?/? c.1097G>A r.(?) p.(Gly366Asp) g.18822041G>A Copied from the Exome Variant Server PPEF1_000056 1/10563 1/6728 0/3835
?/? c.1251+15T>G r.(=) p.(=) g.18822210T>G Copied from the Exome Variant Server PPEF1_000057 1/10563 1/6728 0/3835
?/? c.1252-51C>A r.(=) p.(=) g.18824470C>A Copied from the Exome Variant Server PPEF1_000058 7/10563 7/6728 0/3835
?/? c.1252-31C>T r.(=) p.(=) g.18824490C>T Copied from the Exome Variant Server PPEF1_000059 638/10563 585/6728 53/3835
?/? c.1252-3C>T r.spl? p.? g.18824518C>T Copied from the Exome Variant Server PPEF1_000060 1/10563 1/6728 0/3835
?/? c.1327G>A r.(?) p.(Gly443Ser) g.18824596G>A Copied from the Exome Variant Server PPEF1_000061 512/10563 477/6728 35/3835
?/? c.1386T>C r.(=) p.(=) g.18824655T>C Copied from the Exome Variant Server PPEF1_000062 1/10563 1/6728 0/3835
?/? c.1394+44C>T r.(=) p.(=) g.18824707C>T Copied from the Exome Variant Server PPEF1_000063 1/10563 0/6728 1/3835
?/? c.1395-35A>G r.(=) p.(=) g.18836122A>G Copied from the Exome Variant Server PPEF1_000064 1/10562 0/6727 1/3835
?/? c.1395-18T>G r.(=) p.(=) g.18836139T>G Copied from the Exome Variant Server PPEF1_000065 1/10562 1/6727 0/3835
?/? c.1501+30C>A r.(=) p.(=) g.18836293C>A Copied from the Exome Variant Server PPEF1_000066 1/10563 1/6728 0/3835
?/? c.1501+35C>T r.(=) p.(=) g.18836298C>T Copied from the Exome Variant Server PPEF1_000067 1/10563 0/6728 1/3835
?/? c.1502-34C>T r.(=) p.(=) g.18842007C>T Copied from the Exome Variant Server PPEF1_000068 97/10563 0/6728 97/3835
?/? c.1580C>T r.(?) p.(Ser527Leu) g.18842119C>T Copied from the Exome Variant Server PPEF1_000069 2/10563 0/6728 2/3835
?/? c.1581G>A r.(=) p.(=) g.18842120G>A Copied from the Exome Variant Server PPEF1_000070 3/10563 3/6728 0/3835
?/? c.1643G>A r.(?) p.(Arg548His) g.18842182G>A Copied from the Exome Variant Server PPEF1_000071 1/10563 0/6728 1/3835
?/? c.1645A>G r.(?) p.(Ile549Val) g.18842184A>G Copied from the Exome Variant Server PPEF1_000072 1/10563 1/6728 0/3835
?/? c.1665+31A>G r.(=) p.(=) g.18842235A>G Copied from the Exome Variant Server PPEF1_000073 1/10563 1/6728 0/3835
?/? c.1706C>A r.(?) p.(Ser569Tyr) g.18843909C>A Copied from the Exome Variant Server PPEF1_000074 1/10563 1/6728 0/3835
?/? c.1750+36G>A r.(=) p.(=) g.18843989G>A Copied from the Exome Variant Server PPEF1_000075 43/10563 1/6728 42/3835
?/? c.1750+38_1750+39insT r.(=) p.(=) g.18843991_18843992insT Copied from the Exome Variant Server PPEF1_000076 1/10205 0/6484 1/3721
?/? c.1750+59G>A r.(=) p.(=) g.18844012G>A Copied from the Exome Variant Server PPEF1_000077 2573/3597 1829/2388 744/1209
?/? c.1751-22A>G r.(=) p.(=) g.18845372A>G Copied from the Exome Variant Server PPEF1_000078 369/10562 1/6728 368/3834
?/? c.1826C>T r.(?) p.(Ser609Phe) g.18845469C>T Copied from the Exome Variant Server PPEF1_000079 1/10563 1/6728 0/3835
?/? c.1903T>A r.(?) p.(Phe635Ile) g.18845546T>A Copied from the Exome Variant Server PPEF1_000080 1/10563 1/6728 0/3835
?/? c.*8T>G r.(=) p.(=) g.18845613T>G Copied from the Exome Variant Server PPEF1_000081 1/10563 1/6728 0/3835
?/? c.*11G>A r.(=) p.(=) g.18845616G>A Copied from the Exome Variant Server PPEF1_000082 1/10563 0/6728 1/3835
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