Full data view for gene AASDHPPT

Information The variants shown are described using the NM_015423.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.105948394C>A Copied from the Exome Variant Server AASDHPPT_000001 1/13000 1/8598 0/4402 - - - - - - -
?/? c.-38A>G r.(=) p.(=) g.105948400A>G Copied from the Exome Variant Server AASDHPPT_000002 9/13000 2/8598 7/4402 - - - - - - -
?/? c.-34G>A r.(=) p.(=) g.105948404G>A Copied from the Exome Variant Server AASDHPPT_000003 1/13000 1/8598 0/4402 - - - - - - -
?/? c.-21G>A r.(=) p.(=) g.105948417G>A Copied from the Exome Variant Server AASDHPPT_000004 1/13000 1/8598 0/4402 - - - - - - -
?/? c.-18G>C r.(=) p.(=) g.105948420G>C Copied from the Exome Variant Server AASDHPPT_000005 10/13000 0/8598 10/4402 - - - - - - -
?/? c.1A>C r.(=) p.(=) g.105948438A>C Copied from the Exome Variant Server AASDHPPT_000006 1/13000 1/8598 0/4402 - - - - - - -
?/? c.10C>T r.(=) p.(=) g.105948447C>T Copied from the Exome Variant Server AASDHPPT_000007 1/13000 1/8598 0/4402 - - - - - - -
?/? c.17A>G r.(=) p.(=) g.105948454A>G Copied from the Exome Variant Server AASDHPPT_000008 1/13000 1/8598 0/4402 - - - - - - -
?/? c.35C>T r.(?) p.(Pro12Leu) g.105948472C>T Copied from the Exome Variant Server AASDHPPT_000009 1/13000 0/8598 1/4402 - - - - - - -
?/? c.39C>T r.(=) p.(=) g.105948476C>T Copied from the Exome Variant Server AASDHPPT_000010 7/13000 0/8598 7/4402 - - - - - - -
?/? c.91G>A r.(?) p.(Ala31Thr) g.105948528G>A Copied from the Exome Variant Server AASDHPPT_000011 1/13000 0/8598 1/4402 - - - - - - -
?/? c.126C>T r.(=) p.(=) g.105948563C>T Copied from the Exome Variant Server AASDHPPT_000012 75/13000 65/8598 10/4402 - - - - - - -
?/? c.129G>C r.(?) p.(Glu43Asp) g.105948566G>C Copied from the Exome Variant Server AASDHPPT_000013 1/13000 1/8598 0/4402 - - - - - - -
?/? c.140G>A r.(?) p.(Arg47His) g.105948577G>A Copied from the Exome Variant Server AASDHPPT_000014 8/13000 8/8598 0/4402 - - - - - - -
?/? c.181A>T r.(?) p.(Met61Leu) g.105948618A>T Copied from the Exome Variant Server AASDHPPT_000015 1/13000 0/8598 1/4402 - - - - - - -
?/? c.184-41_184-40insTAGA r.(=) p.(=) g.105950153_105950154insTAGA Copied from the Exome Variant Server AASDHPPT_000016 1/12478 0/8228 1/4250 - - - - - - -
?/? c.184-28C>T r.(=) p.(=) g.105950166C>T Copied from the Exome Variant Server AASDHPPT_000017 1/12980 1/8590 0/4390 - - - - - - -
?/? c.235T>G r.(?) p.(Trp79Gly) g.105950245T>G Copied from the Exome Variant Server AASDHPPT_000018 2/13000 2/8598 0/4402 - - - - - - -
?/? c.239_240insT r.(?) p.(His81Serfs*28) g.105950249_105950250insT Copied from the Exome Variant Server AASDHPPT_000019 1/12518 1/8254 0/4264 - - - - - - -
?/? c.286A>G r.(?) p.(Lys96Glu) g.105950296A>G Copied from the Exome Variant Server AASDHPPT_000020 1/13000 1/8598 0/4402 - - - - - - -
?/? c.330T>C r.(=) p.(=) g.105950340T>C Copied from the Exome Variant Server AASDHPPT_000021 7/13000 7/8598 0/4402 - - - - - - -
?/? c.371T>C r.(?) p.(Leu124Pro) g.105950381T>C Copied from the Exome Variant Server AASDHPPT_000022 1/13000 1/8598 0/4402 - - - - - - -
?/? c.409+24_409+26del r.(=) p.(=) g.105950443_105950445del Copied from the Exome Variant Server AASDHPPT_000023 1/12518 0/8254 1/4264 - - - - - - -
?/? c.409+39C>T r.(=) p.(=) g.105950458C>T Copied from the Exome Variant Server AASDHPPT_000024 19/13000 1/8598 18/4402 - - - - - - -
?/? c.409+41A>T r.(=) p.(=) g.105950460A>T Copied from the Exome Variant Server AASDHPPT_000025 1/13000 1/8598 0/4402 - - - - - - -
?/? c.410-48T>C r.(=) p.(=) g.105961236T>C Copied from the Exome Variant Server AASDHPPT_000026 5/12620 0/8474 5/4146 - - - - - - -
?/? c.410-38del r.(=) p.(=) g.105961246del Copied from the Exome Variant Server AASDHPPT_000027 13/12244 0/8166 13/4078 - - - - - - -
?/? c.441_442insA r.(?) p.(Met148Asnfs*17) g.105961315_105961316insA Copied from the Exome Variant Server AASDHPPT_000028 1/12514 1/8250 0/4264 - - - - - - -
?/? c.484A>C r.(?) p.(Ser162Arg) g.105961358A>C Copied from the Exome Variant Server AASDHPPT_000029 1/12996 1/8594 0/4402 - - - - - - -
?/? c.487T>C r.(?) p.(Phe163Leu) g.105961361T>C Copied from the Exome Variant Server AASDHPPT_000030 1/12996 0/8594 1/4402 - - - - - - -
?/? c.508C>T r.(=) p.(=) g.105961382C>T Copied from the Exome Variant Server AASDHPPT_000031 1/12996 1/8594 0/4402 - - - - - - -
?/? c.532-21A>C r.(=) p.(=) g.105962022A>C Copied from the Exome Variant Server AASDHPPT_000032 1/12994 0/8594 1/4400 - - - - - - -
?/? c.612A>G r.(=) p.(=) g.105962123A>G Copied from the Exome Variant Server AASDHPPT_000033 1/13000 1/8598 0/4402 - - - - - - -
?/? c.613T>C r.(=) p.(=) g.105962124T>C Copied from the Exome Variant Server AASDHPPT_000034 1/13000 0/8598 1/4402 - - - - - - -
?/? c.662A>T r.(?) p.(Asp221Val) g.105962173A>T Copied from the Exome Variant Server AASDHPPT_000035 1/12998 1/8598 0/4400 - - - - - - -
?/? c.694-40A>G r.(=) p.(=) g.105965270A>G Copied from the Exome Variant Server AASDHPPT_000036 1/12896 1/8544 0/4352 - - - - - - -
?/? c.757C>T r.(?) p.(His253Tyr) g.105965373C>T Copied from the Exome Variant Server AASDHPPT_000037 2/13000 1/8598 1/4402 - - - - - - -
?/? c.765+11A>G r.(=) p.(=) g.105965392A>G Copied from the Exome Variant Server AASDHPPT_000038 1/13000 1/8598 0/4402 - - - - - - -
?/? c.766-26T>C r.(=) p.(=) g.105967444T>C Copied from the Exome Variant Server AASDHPPT_000039 1/13000 1/8598 0/4402 - - - - - - -
?/? c.766-2A>G r.spl? p.? g.105967468A>G Copied from the Exome Variant Server AASDHPPT_000040 1/13000 1/8598 0/4402 - - - - - - -
?/? c.801G>A r.(=) p.(=) g.105967505G>A Copied from the Exome Variant Server AASDHPPT_000041 1/13000 1/8598 0/4402 - - - - - - -
?/? c.813T>G r.(?) p.(Ile271Met) g.105967517T>G Copied from the Exome Variant Server AASDHPPT_000042 1/13000 1/8598 0/4402 - - - - - - -
?/? c.843C>T r.(=) p.(=) g.105967547C>T Copied from the Exome Variant Server AASDHPPT_000043 41/12998 0/8596 41/4402 - - - - - - -
?/? c.893C>T r.(?) p.(Thr298Ile) g.105967597C>T Copied from the Exome Variant Server AASDHPPT_000044 1/12998 1/8596 0/4402 - - - - - - -
?/? c.*10G>A r.(=) p.(=) g.105967644G>A Copied from the Exome Variant Server AASDHPPT_000045 1/12994 0/8594 1/4400 - - - - - - -
?/? c.*34G>A r.(=) p.(=) g.105967668G>A Copied from the Exome Variant Server AASDHPPT_000046 1/12994 1/8594 0/4400 - - - - - - -
?/? c.*48G>A r.(=) p.(=) g.105967682G>A Copied from the Exome Variant Server AASDHPPT_000047 2/12994 0/8594 2/4400 - - - - - - -
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