Full data view for gene PPP1R1B

Information The variants shown are described using the NM_032192.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.72G>A r.(=) p.(=) g.37783717G>A Copied from the Exome Variant Server PPP1R1B_000001 1/12888 0/8532 1/4356 - - - - - - -
?/? c.86G>A r.(?) p.(Arg29Gln) g.37785427G>A Copied from the Exome Variant Server PPP1R1B_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.102G>A r.(=) p.(=) g.37785443G>A Copied from the Exome Variant Server PPP1R1B_000003 19/13006 0/8600 19/4406 - - - - - - -
?/? c.119G>A r.(?) p.(Arg40Gln) g.37785460G>A Copied from the Exome Variant Server PPP1R1B_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.142+29G>C r.(=) p.(=) g.37785512G>C Copied from the Exome Variant Server PPP1R1B_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.143-40G>A r.(=) p.(=) g.37785753G>A Copied from the Exome Variant Server PPP1R1B_000006 1/13004 1/8598 0/4406 - - - - - - -
?/? c.143-26C>T r.(=) p.(=) g.37785767C>T Copied from the Exome Variant Server PPP1R1B_000007 4/13006 0/8600 4/4406 - - - - - - -
?/? c.156C>A r.(=) p.(=) g.37785806C>A Copied from the Exome Variant Server PPP1R1B_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.160C>A r.(?) p.(His54Asn) g.37785810C>A Copied from the Exome Variant Server PPP1R1B_000009 5/13006 2/8600 3/4406 - - - - - - -
?/? c.165+32T>A r.(=) p.(=) g.37785847T>A Copied from the Exome Variant Server PPP1R1B_000010 213/13006 0/8600 213/4406 - - - - - - -
?/? c.165+34C>T r.(=) p.(=) g.37785849C>T Copied from the Exome Variant Server PPP1R1B_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.165+47G>A r.(=) p.(=) g.37785862G>A Copied from the Exome Variant Server PPP1R1B_000012 3/13004 3/8598 0/4406 - - - - - - -
?/? c.190C>A r.(?) p.(Leu64Ile) g.37786249C>A Copied from the Exome Variant Server PPP1R1B_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.211C>T r.(?) p.(Pro71Ser) g.37786270C>T Copied from the Exome Variant Server PPP1R1B_000014 3/13006 3/8600 0/4406 - - - - - - -
?/? c.214T>C r.(?) p.(Cys72Arg) g.37786273T>C Copied from the Exome Variant Server PPP1R1B_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.234G>A r.(=) p.(=) g.37786293G>A Copied from the Exome Variant Server PPP1R1B_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237G>A r.(=) p.(=) g.37786296G>A Copied from the Exome Variant Server PPP1R1B_000017 2/13006 0/8600 2/4406 - - - - - - -
?/? c.241+4C>G r.spl? p.? g.37786304C>G Copied from the Exome Variant Server PPP1R1B_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.241+12C>T r.(=) p.(=) g.37786312C>T Copied from the Exome Variant Server PPP1R1B_000018 180/13006 0/8600 180/4406 - - - - - - -
?/? c.241+33C>T r.(=) p.(=) g.37786333C>T Copied from the Exome Variant Server PPP1R1B_000020 2/13006 1/8600 1/4406 - - - - - - -
?/? c.241+58C>T r.(=) p.(=) g.37786358C>T Copied from the Exome Variant Server PPP1R1B_000021 1/4566 1/3182 0/1384 - - - - - - -
?/? c.242-20C>T r.(=) p.(=) g.37790116C>T Copied from the Exome Variant Server PPP1R1B_000022 11/13006 11/8600 0/4406 - - - - - - -
?/? c.242-18C>T r.(=) p.(=) g.37790118C>T Copied from the Exome Variant Server PPP1R1B_000023 4/13006 0/8600 4/4406 - - - - - - -
?/? c.242-10_242-8del r.(=) p.(=) g.37790126_37790128del Copied from the Exome Variant Server PPP1R1B_000024 1/12518 0/8254 1/4264 - - - - - - -
?/? c.242-6T>G r.(=) p.(=) g.37790130T>G Copied from the Exome Variant Server PPP1R1B_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.251G>T r.(?) p.(Arg84Leu) g.37790145G>T Copied from the Exome Variant Server PPP1R1B_000026 2/13006 0/8600 2/4406 - - - - - - -
?/? c.261G>A r.(=) p.(=) g.37790155G>A Copied from the Exome Variant Server PPP1R1B_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.378G>T r.(?) p.(Glu126Asp) g.37790272G>T Copied from the Exome Variant Server PPP1R1B_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.379_381del r.(?) p.(Asp128del) g.37790273_37790275del Copied from the Exome Variant Server PPP1R1B_000029 1/12518 0/8254 1/4264 - - - - - - -
?/? c.385_387del r.(?) p.(Glu135del) g.37790279_37790281del Copied from the Exome Variant Server PPP1R1B_000030 1/12518 0/8254 1/4264 - - - - - - -
?/? c.390A>G r.(=) p.(=) g.37790284A>G Copied from the Exome Variant Server PPP1R1B_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.393G>A r.(=) p.(=) g.37790287G>A Copied from the Exome Variant Server PPP1R1B_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.432C>T r.(=) p.(=) g.37790326C>T Copied from the Exome Variant Server PPP1R1B_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.433A>T r.(?) p.(Ile145Phe) g.37790327A>T Copied from the Exome Variant Server PPP1R1B_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.445+32G>A r.(=) p.(=) g.37790371G>A Copied from the Exome Variant Server PPP1R1B_000035 7811/13006 6576/8600 1235/4406 - - - - - - -
?/? c.446-49G>A r.(=) p.(=) g.37791811G>A Copied from the Exome Variant Server PPP1R1B_000036 3/13006 3/8600 0/4406 - - - - - - -
?/? c.446-48G>A r.(=) p.(=) g.37791812G>A Copied from the Exome Variant Server PPP1R1B_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.466G>A r.(?) p.(Gly156Ser) g.37791880G>A Copied from the Exome Variant Server PPP1R1B_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.480A>G r.(=) p.(=) g.37791894A>G Copied from the Exome Variant Server PPP1R1B_000039 206/13006 0/8600 206/4406 - - - - - - -
?/? c.499C>T r.(?) p.(Pro167Ser) g.37791913C>T Copied from the Exome Variant Server PPP1R1B_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.517G>A r.(?) p.(Glu173Lys) g.37791931G>A Copied from the Exome Variant Server PPP1R1B_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.527G>A r.(?) p.(Gly176Glu) g.37791941G>A Copied from the Exome Variant Server PPP1R1B_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.565+14G>A r.(=) p.(=) g.37791993G>A Copied from the Exome Variant Server PPP1R1B_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.565+16G>A r.(=) p.(=) g.37791995G>A Copied from the Exome Variant Server PPP1R1B_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.565+22T>C r.(=) p.(=) g.37792001T>C Copied from the Exome Variant Server PPP1R1B_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.565+26G>A r.(=) p.(=) g.37792005G>A Copied from the Exome Variant Server PPP1R1B_000046 35/13006 34/8600 1/4406 - - - - - - -
?/? c.566-21C>A r.(=) p.(=) g.37792048C>A Copied from the Exome Variant Server PPP1R1B_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.587G>A r.(?) p.(Arg196His) g.37792090G>A Copied from the Exome Variant Server PPP1R1B_000048 535/13006 175/8600 360/4406 - - - - - - -
?/? c.593C>A r.(?) p.(Ser198Tyr) g.37792096C>A Copied from the Exome Variant Server PPP1R1B_000049 101/13006 94/8600 7/4406 - - - - - - -
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