All transcript variants in gene ATP6AP2

Information The variants shown are described using the NM_005765.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-46C>A r.(=) p.(=) g.40440272C>A Copied from the Exome Variant Server ATP6AP2_000001 16/8094 0/5054 16/3040
?/? c.-35G>C r.(=) p.(=) g.40440283G>C Copied from the Exome Variant Server ATP6AP2_000002 68/8451 0/5291 68/3160
?/? c.38-13G>A r.(=) p.(=) g.40448225G>A Copied from the Exome Variant Server ATP6AP2_000003 1/10563 1/6728 0/3835
?/? c.38-5T>C r.spl? p.? g.40448233T>C Copied from the Exome Variant Server ATP6AP2_000004 40/10563 0/6728 40/3835
?/? c.44T>C r.(?) p.(Leu15Ser) g.40448244T>C Copied from the Exome Variant Server ATP6AP2_000005 1/10563 1/6728 0/3835
?/? c.51C>T r.(=) p.(=) g.40448251C>T Copied from the Exome Variant Server ATP6AP2_000006 1/10563 1/6728 0/3835
?/? c.122G>A r.(?) p.(Arg41Gln) g.40448322G>A Copied from the Exome Variant Server ATP6AP2_000007 1/10563 0/6728 1/3835
?/? c.132C>T r.(=) p.(=) g.40448332C>T Copied from the Exome Variant Server ATP6AP2_000008 2/10563 2/6728 0/3835
?/? c.169-50G>A r.(=) p.(=) g.40450436G>A Copied from the Exome Variant Server ATP6AP2_000009 1/10563 1/6728 0/3835
?/? c.169-28G>A r.(=) p.(=) g.40450458G>A Copied from the Exome Variant Server ATP6AP2_000010 1/10563 1/6728 0/3835
?/? c.189C>T r.(=) p.(=) g.40450506C>T Copied from the Exome Variant Server ATP6AP2_000011 28/10563 0/6728 28/3835
?/? c.192A>T r.(=) p.(=) g.40450509A>T Copied from the Exome Variant Server ATP6AP2_000012 1/10563 0/6728 1/3835
?/? c.218G>A r.(?) p.(Arg73Gln) g.40450535G>A Copied from the Exome Variant Server ATP6AP2_000013 1/10563 0/6728 1/3835
?/? c.262C>G r.(?) p.(Leu88Val) g.40450579C>G Copied from the Exome Variant Server ATP6AP2_000014 1/10563 1/6728 0/3835
?/? c.268C>G r.(?) p.(Pro90Ala) g.40450585C>G Copied from the Exome Variant Server ATP6AP2_000015 527/10563 484/6728 43/3835
?/? c.285G>A r.(=) p.(=) g.40450602G>A Copied from the Exome Variant Server ATP6AP2_000016 200/10563 1/6728 199/3835
?/? c.300+49del r.(=) p.(=) g.40450666del Copied from the Exome Variant Server ATP6AP2_000017 1/10171 0/6464 1/3707
?/? c.301-34A>T r.(=) p.(=) g.40456467A>T Copied from the Exome Variant Server ATP6AP2_000018 70/10563 0/6728 70/3835
?/? c.301-22C>T r.(=) p.(=) g.40456479C>T Copied from the Exome Variant Server ATP6AP2_000019 6/10563 0/6728 6/3835
?/? c.342C>A r.(?) p.(His114Gln) g.40456542C>A Copied from the Exome Variant Server ATP6AP2_000020 1/10563 0/6728 1/3835
?/? c.357G>A r.(=) p.(=) g.40456557G>A Copied from the Exome Variant Server ATP6AP2_000021 8/10563 0/6728 8/3835
?/? c.385C>T r.(?) p.(Pro129Ser) g.40456585C>T Copied from the Exome Variant Server ATP6AP2_000022 1/10563 1/6728 0/3835
?/? c.397-13A>G r.(=) p.(=) g.40456766A>G Copied from the Exome Variant Server ATP6AP2_000023 1/10563 1/6728 0/3835
?/? c.463C>T r.(?) p.(Arg155Cys) g.40456845C>T Copied from the Exome Variant Server ATP6AP2_000024 2/10563 0/6728 2/3835
?/? c.469C>T r.(?) p.(Arg157Cys) g.40456851C>T Copied from the Exome Variant Server ATP6AP2_000025 1/10563 0/6728 1/3835
?/? c.472C>T r.(=) p.(=) g.40456854C>T Copied from the Exome Variant Server ATP6AP2_000026 1/10563 1/6728 0/3835
?/? c.490G>A r.(?) p.(Val164Ile) g.40456872G>A Copied from the Exome Variant Server ATP6AP2_000027 1/10563 0/6728 1/3835
?/? c.530A>G r.(?) p.(Asn177Ser) g.40456912A>G Copied from the Exome Variant Server ATP6AP2_000028 1/10563 1/6728 0/3835
?/? c.534+7G>A r.(=) p.(=) g.40456923G>A Copied from the Exome Variant Server ATP6AP2_000029 2/10563 0/6728 2/3835
?/? c.534+34C>A r.(=) p.(=) g.40456950C>A Copied from the Exome Variant Server ATP6AP2_000030 4/10563 4/6728 0/3835
?/? c.534+45G>C r.(=) p.(=) g.40456961G>C Copied from the Exome Variant Server ATP6AP2_000031 9918/10557 6144/6726 3774/3831
?/? c.535-24T>A r.(=) p.(=) g.40457909T>A Copied from the Exome Variant Server ATP6AP2_000032 1/10563 0/6728 1/3835
?/? c.572A>G r.(?) p.(His191Arg) g.40457970A>G Copied from the Exome Variant Server ATP6AP2_000033 1/10563 0/6728 1/3835
?/? c.588+7A>G r.(=) p.(=) g.40457993A>G Copied from the Exome Variant Server ATP6AP2_000034 1/10563 0/6728 1/3835
?/? c.589-3A>G r.spl? p.? g.40458841A>G Copied from the Exome Variant Server ATP6AP2_000035 1/10563 1/6728 0/3835
?/? c.738+10A>T r.(=) p.(=) g.40459003A>T Copied from the Exome Variant Server ATP6AP2_000036 1/10563 1/6728 0/3835
?/? c.765T>C r.(=) p.(=) g.40460040T>C Copied from the Exome Variant Server ATP6AP2_000037 1191/10563 42/6728 1149/3835
?/? c.822T>C r.(=) p.(=) g.40460097T>C Copied from the Exome Variant Server ATP6AP2_000038 4/10563 4/6728 0/3835
?/? c.859-2A>C r.spl? p.? g.40464811A>C Copied from the Exome Variant Server ATP6AP2_000039 1/10559 1/6724 0/3835
?/? c.868G>C r.(?) p.(Ala290Pro) g.40464822G>C Copied from the Exome Variant Server ATP6AP2_000040 239/10561 0/6726 239/3835
?/? c.913G>A r.(?) p.(Val305Met) g.40464867G>A Copied from the Exome Variant Server ATP6AP2_000041 2/10563 1/6728 1/3835
?/? c.1050T>C r.(=) p.(=) g.40465004T>C Copied from the Exome Variant Server ATP6AP2_000042 13/10563 0/6728 13/3835
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