Full data view for gene ATP6AP1

Information The variants shown are described using the NM_001183.4 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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.39G>A r.(=) p.(=) g.153657077G>A Copied from the Exome Variant Server ATP6AP1_000001 1/8376 0/5269 1/3107 - - - - - - -
?/? c.43C>T r.(?) p.(Arg15*) g.153657081C>T Copied from the Exome Variant Server ATP6AP1_000002 5/8261 5/5181 0/3080 - - - - - - -
?/? c.45A>G r.(=) p.(=) g.153657083A>G Copied from the Exome Variant Server ATP6AP1_000003 7482/8266 4664/5175 2818/3091 - - - - - - -
?/? c.96_98del r.(?) p.(Ala41del) g.153657134_153657136del Copied from the Exome Variant Server ATP6AP1_000004 55/3329 41/2291 14/1038 - - - - - - -
?/? c.98_99insGGCGGC r.(?) p.(Ala40_Ala41dup) g.153657136_153657137insGGCGGC Copied from the Exome Variant Server ATP6AP1_000005 82/3329 2/2291 80/1038 - - - - - - -
?/? c.161+19_161+20insCCC r.(=) p.(=) g.153657218_153657219insCCC Copied from the Exome Variant Server ATP6AP1_000006 12/7953 4/5060 8/2893 - - - - - - -
?/? c.162-47G>C r.(=) p.(=) g.153657347G>C Copied from the Exome Variant Server ATP6AP1_000007 13/10561 0/6727 13/3834 - - - - - - -
?/? c.162-36C>T r.(=) p.(=) g.153657358C>T Copied from the Exome Variant Server ATP6AP1_000008 1/10562 0/6728 1/3834 - - - - - - -
?/? c.162-8C>T r.(=) p.(=) g.153657386C>T Copied from the Exome Variant Server ATP6AP1_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.165C>G r.(?) p.(Asp55Glu) g.153657397C>G Copied from the Exome Variant Server ATP6AP1_000010 4/10563 4/6728 0/3835 - - - - - - -
?/? c.179C>G r.(?) p.(Ala60Gly) g.153657411C>G Copied from the Exome Variant Server ATP6AP1_000011 2/10563 2/6728 0/3835 - - - - - - -
?/? c.226A>G r.(?) p.(Thr76Ala) g.153657458A>G Copied from the Exome Variant Server ATP6AP1_000037 522/10563 0/6728 522/3835 - - - - - - -
?/? c.240C>T r.(=) p.(=) g.153657472C>T Copied from the Exome Variant Server ATP6AP1_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.241G>A r.(?) p.(Ala81Thr) g.153657473G>A Copied from the Exome Variant Server ATP6AP1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.288+28C>G r.(=) p.(=) g.153657548C>G Copied from the Exome Variant Server ATP6AP1_000013 2/10562 2/6727 0/3835 - - - - - - -
?/? c.289-44C>G r.(=) p.(=) g.153660132C>G Copied from the Exome Variant Server ATP6AP1_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.289-41del r.(=) p.(=) g.153660135del Copied from the Exome Variant Server ATP6AP1_000015 24/10205 11/6484 13/3721 - - - - - - -
?/? c.289-16C>A r.(=) p.(=) g.153660160C>A Copied from the Exome Variant Server ATP6AP1_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.293G>A r.(?) p.(Ser98Asn) g.153660180G>A Copied from the Exome Variant Server ATP6AP1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.361G>C r.(?) p.(Glu121Gln) g.153660248G>C Copied from the Exome Variant Server ATP6AP1_000018 13/10563 10/6728 3/3835 - - - - - - -
?/? c.363+10C>T r.(=) p.(=) g.153660260C>T Copied from the Exome Variant Server ATP6AP1_000019 3/10563 2/6728 1/3835 - - - - - - -
?/? c.364-4C>T r.spl? p.? g.153660608C>T Copied from the Exome Variant Server ATP6AP1_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.407T>C r.(?) p.(Val136Ala) g.153660655T>C Copied from the Exome Variant Server ATP6AP1_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.468C>T r.(=) p.(=) g.153660716C>T Copied from the Exome Variant Server ATP6AP1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.482T>C r.(?) p.(Leu161Pro) g.153660730T>C Copied from the Exome Variant Server ATP6AP1_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.509A>G r.(?) p.(Asn170Ser) g.153660757A>G Copied from the Exome Variant Server ATP6AP1_000024 1/10561 0/6727 1/3834 - - - - - - -
?/? c.539G>A r.(?) p.(Arg180His) g.153660787G>A Copied from the Exome Variant Server ATP6AP1_000025 23/10553 2/6726 21/3827 - - - - - - -
?/? c.548A>G r.(?) p.(Tyr183Cys) g.153660796A>G Copied from the Exome Variant Server ATP6AP1_000026 1/10542 0/6713 1/3829 - - - - - - -
?/? c.549C>T r.(=) p.(=) g.153660797C>T Copied from the Exome Variant Server ATP6AP1_000027 1/10542 1/6713 0/3829 - - - - - - -
?/? c.558-36G>A r.(=) p.(=) g.153661241G>A Copied from the Exome Variant Server ATP6AP1_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.558-19_558-18del r.(=) p.(=) g.153661258_153661259del Copied from the Exome Variant Server ATP6AP1_000029 59/10205 46/6484 13/3721 - - - - - - -
?/? c.598+23C>G r.(=) p.(=) g.153661340C>G Copied from the Exome Variant Server ATP6AP1_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.598+80C>T r.(=) p.(=) g.153661397C>T Copied from the Exome Variant Server ATP6AP1_000031 5/3600 5/2391 0/1209 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.153661991C>T Copied from the Exome Variant Server ATP6AP1_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.669G>A r.(=) p.(=) g.153662051G>A Copied from the Exome Variant Server ATP6AP1_000033 2/10563 0/6728 2/3835 - - - - - - -
?/? c.684+32G>A r.(=) p.(=) g.153662098G>A Copied from the Exome Variant Server ATP6AP1_000034 1/10562 0/6728 1/3834 - - - - - - -
?/? c.685-41C>T r.(=) p.(=) g.153662513C>T Copied from the Exome Variant Server ATP6AP1_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.701C>A r.(?) p.(Ala234Asp) g.153662570C>A Copied from the Exome Variant Server ATP6AP1_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.702C>T r.(=) p.(=) g.153662571C>T Copied from the Exome Variant Server ATP6AP1_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.744G>A r.(=) p.(=) g.153662613G>A Copied from the Exome Variant Server ATP6AP1_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.789C>T r.(=) p.(=) g.153662658C>T Copied from the Exome Variant Server ATP6AP1_000065 1/10563 1/6728 0/3835 - - - - - - -
?/? c.804G>A r.(=) p.(=) g.153662673G>A Copied from the Exome Variant Server ATP6AP1_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.831G>A r.(=) p.(=) g.153662700G>A Copied from the Exome Variant Server ATP6AP1_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.888C>G r.(?) p.(Asn296Lys) g.153662757C>G Copied from the Exome Variant Server ATP6AP1_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.919G>T r.(?) p.(Ala307Ser) g.153662788G>T Copied from the Exome Variant Server ATP6AP1_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.924-27A>G r.(=) p.(=) g.153663458A>G Copied from the Exome Variant Server ATP6AP1_000043 1521/10561 6/6727 1515/3834 - - - - - - -
?/? c.924-22G>A r.(=) p.(=) g.153663463G>A Copied from the Exome Variant Server ATP6AP1_000044 1/10561 1/6727 0/3834 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.153663488C>T Copied from the Exome Variant Server ATP6AP1_000045 9/10562 0/6728 9/3834 - - - - - - -
?/? c.972-14G>A r.(=) p.(=) g.153663606G>A Copied from the Exome Variant Server ATP6AP1_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.988C>T r.(?) p.(Arg330Cys) g.153663636C>T Copied from the Exome Variant Server ATP6AP1_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1011G>A r.(=) p.(=) g.153663659G>A Copied from the Exome Variant Server ATP6AP1_000048 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1025T>C r.(?) p.(Met342Thr) g.153663673T>C Copied from the Exome Variant Server ATP6AP1_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1134C>T r.(=) p.(=) g.153663782C>T Copied from the Exome Variant Server ATP6AP1_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1162A>C r.(?) p.(Thr388Pro) g.153663810A>C Copied from the Exome Variant Server ATP6AP1_000051 88/10563 0/6728 88/3835 - - - - - - -
?/? c.1203+13C>T r.(=) p.(=) g.153663864C>T Copied from the Exome Variant Server ATP6AP1_000052 1/10558 0/6725 1/3833 - - - - - - -
?/? c.1203+24T>C r.(=) p.(=) g.153663875T>C Copied from the Exome Variant Server ATP6AP1_000053 1/10556 0/6723 1/3833 - - - - - - -
?/? c.1203+31G>T r.(=) p.(=) g.153663882G>T Copied from the Exome Variant Server ATP6AP1_000054 2/10555 0/6722 2/3833 - - - - - - -
?/? c.1204-35C>T r.(=) p.(=) g.153663993C>T Copied from the Exome Variant Server ATP6AP1_000055 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1204-20C>T r.(=) p.(=) g.153664008C>T Copied from the Exome Variant Server ATP6AP1_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1204-19G>A r.(=) p.(=) g.153664009G>A Copied from the Exome Variant Server ATP6AP1_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1204-15C>T r.(=) p.(=) g.153664013C>T Copied from the Exome Variant Server ATP6AP1_000058 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1242C>T r.(=) p.(=) g.153664066C>T Copied from the Exome Variant Server ATP6AP1_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1261T>C r.(?) p.(Phe421Leu) g.153664085T>C Copied from the Exome Variant Server ATP6AP1_000060 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1273G>A r.(?) p.(Gly425Ser) g.153664097G>A Copied from the Exome Variant Server ATP6AP1_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*12_*13insG r.(=) p.(=) g.153664249_153664250insG Copied from the Exome Variant Server ATP6AP1_000062 1011/10205 11/6484 1000/3721 - - - - - - -
?/? c.*12_*13insGG r.(=) p.(=) g.153664249_153664250insGG Copied from the Exome Variant Server ATP6AP1_000063 17/10205 0/6484 17/3721 - - - - - - -
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