Full data view for gene PNPLA4

Information The variants shown are described using the NM_004650.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.-13-29del r.(=) p.(=) g.7894202del Copied from the Exome Variant Server PNPLA4_000040 45/10199 0/6479 45/3720 - - - - - - -
?/? c.-7A>G r.(=) p.(=) g.7894167T>C Copied from the Exome Variant Server PNPLA4_000039 1/10562 1/6727 0/3835 - - - - - - -
?/? c.23T>C r.(?) p.(Phe8Ser) g.7894138A>G Copied from the Exome Variant Server PNPLA4_000038 1/10562 1/6727 0/3835 - - - - - - -
?/? c.93A>C r.(?) p.(Lys31Asn) g.7894068T>G Copied from the Exome Variant Server PNPLA4_000037 1/10562 0/6727 1/3835 - - - - - - -
?/? c.170A>C r.(?) p.(Glu57Ala) g.7893991T>G Copied from the Exome Variant Server PNPLA4_000036 1/10562 1/6727 0/3835 - - - - - - -
?/? c.181-37C>T r.(=) p.(=) g.7890176G>A Copied from the Exome Variant Server PNPLA4_000035 1/10528 1/6706 0/3822 - - - - - - -
?/? c.210C>T r.(=) p.(=) g.7890110G>A Copied from the Exome Variant Server PNPLA4_000034 2/10562 2/6727 0/3835 - - - - - - -
?/? c.211G>A r.(?) p.(Glu71Lys) g.7890109C>T Copied from the Exome Variant Server PNPLA4_000033 1/10562 1/6727 0/3835 - - - - - - -
?/? c.241G>A r.(?) p.(Val81Ile) g.7890079C>T Copied from the Exome Variant Server PNPLA4_000032 1/10562 1/6727 0/3835 - - - - - - -
?/? c.243A>G r.(=) p.(=) g.7890077T>C Copied from the Exome Variant Server PNPLA4_000031 4/10562 3/6727 1/3835 - - - - - - -
?/? c.245C>T r.(?) p.(Thr82Met) g.7890075G>A Copied from the Exome Variant Server PNPLA4_000030 2/10562 2/6727 0/3835 - - - - - - -
?/? c.250G>A r.(?) p.(Gly84Ser) g.7890070C>T Copied from the Exome Variant Server PNPLA4_000029 1/10562 1/6727 0/3835 - - - - - - -
?/? c.251G>A r.(?) p.(Gly84Asp) g.7890069C>T Copied from the Exome Variant Server PNPLA4_000028 1/10562 1/6727 0/3835 - - - - - - -
?/? c.264G>A r.(?) p.(Met88Ile) g.7890056C>T Copied from the Exome Variant Server PNPLA4_000027 2/10562 2/6727 0/3835 - - - - - - -
?/? c.276-18T>C r.(=) p.(=) g.7889907A>G Copied from the Exome Variant Server PNPLA4_000026 1/10560 1/6726 0/3834 - - - - - - -
?/? c.276-15C>T r.(=) p.(=) g.7889904G>A Copied from the Exome Variant Server PNPLA4_000025 1068/10561 3/6726 1065/3835 - - - - - - -
?/? c.291G>T r.(=) p.(=) g.7889874C>A Copied from the Exome Variant Server PNPLA4_000024 1/10562 0/6727 1/3835 - - - - - - -
?/? c.306C>T r.(=) p.(=) g.7889859G>A Copied from the Exome Variant Server PNPLA4_000023 1/10562 1/6727 0/3835 - - - - - - -
?/? c.307G>A r.(?) p.(Ala103Thr) g.7889858C>T Copied from the Exome Variant Server PNPLA4_000022 1/10562 1/6727 0/3835 - - - - - - -
?/? c.321C>G r.(=) p.(=) g.7889844G>C Copied from the Exome Variant Server PNPLA4_000021 9/10562 6/6727 3/3835 - - - - - - -
?/? c.336C>T r.(=) p.(=) g.7889829G>A Copied from the Exome Variant Server PNPLA4_000020 1/10562 0/6727 1/3835 - - - - - - -
?/? c.337G>A r.(?) p.(Val113Ile) g.7889828C>T Copied from the Exome Variant Server PNPLA4_000019 2/10562 1/6727 1/3835 - - - - - - -
?/? c.423del r.(?) p.(Ser142Alafs*10) g.7880123del Copied from the Exome Variant Server PNPLA4_000018 1/10204 1/6483 0/3721 - - - - - - -
?/? c.426C>A r.(?) p.(Ser142Arg) g.7880120G>T Copied from the Exome Variant Server PNPLA4_000017 1/10562 1/6727 0/3835 - - - - - - -
?/? c.461del r.(?) p.(Val154Glyfs*26) g.7880085del Copied from the Exome Variant Server PNPLA4_000016 1/10204 1/6483 0/3721 - - - - - - -
?/? c.477+47T>C r.(=) p.(=) g.7880022A>G Copied from the Exome Variant Server PNPLA4_000015 1/10562 1/6727 0/3835 - - - - - - -
?/? c.478-21G>A r.(=) p.(=) g.7870203C>T Copied from the Exome Variant Server PNPLA4_000014 1/10562 1/6727 0/3835 - - - - - - -
?/? c.481T>A r.(?) p.(Trp161Arg) g.7870179A>T Copied from the Exome Variant Server PNPLA4_000013 3/10562 3/6727 0/3835 - - - - - - -
?/? c.489C>T r.(=) p.(=) g.7870171G>A Copied from the Exome Variant Server PNPLA4_000012 1/10562 0/6727 1/3835 - - - - - - -
?/? c.523G>A r.(?) p.(Val175Ile) g.7870137C>T Copied from the Exome Variant Server PNPLA4_000011 2/10562 1/6727 1/3835 - - - - - - -
?/? c.533C>A r.(?) p.(Thr178Lys) g.7870127G>T Copied from the Exome Variant Server PNPLA4_000010 3/10562 0/6727 3/3835 - - - - - - -
?/? c.548C>A r.(?) p.(Pro183His) g.7870112G>T Copied from the Exome Variant Server PNPLA4_000009 1/10562 0/6727 1/3835 - - - - - - -
?/? c.559C>T r.(?) p.(Arg187*) g.7870101G>A Copied from the Exome Variant Server PNPLA4_000008 2/10562 0/6727 2/3835 - - - - - - -
?/? c.575C>T r.(?) p.(Pro192Leu) g.7870085G>A Copied from the Exome Variant Server PNPLA4_000007 2/10562 1/6727 1/3835 - - - - - - -
?/? c.576G>A r.(=) p.(=) g.7870084C>T Copied from the Exome Variant Server PNPLA4_000006 16/10562 0/6727 16/3835 - - - - - - -
?/? c.613G>A r.(?) p.(Ala205Thr) g.7870047C>T Copied from the Exome Variant Server PNPLA4_000005 1/10562 1/6727 0/3835 - - - - - - -
?/? c.631-13C>A r.(=) p.(=) g.7868871G>T Copied from the Exome Variant Server PNPLA4_000004 1/10561 0/6727 1/3834 - - - - - - -
?/? c.702G>T r.(?) p.(Leu234Phe) g.7868787C>A Copied from the Exome Variant Server PNPLA4_000003 1/10562 1/6727 0/3835 - - - - - - -
?/? c.*10A>G r.(=) p.(=) g.7868717T>C Copied from the Exome Variant Server PNPLA4_000002 1/10551 0/6718 1/3833 - - - - - - -
?/? c.*46G>T r.(=) p.(=) g.7868681C>A Copied from the Exome Variant Server PNPLA4_000001 37/10471 0/6677 37/3794 - - - - - - -
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