All transcript variants in gene PPA1

Information The variants shown are described using the NM_021129.3 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-23G>A r.(=) p.(=) g.71993106C>T Copied from the Exome Variant Server PPA1_000071 122/8794 0/5828 122/2966
?/? c.-17_-15del r.(=) p.(=) g.71993098_71993100del Copied from the Exome Variant Server PPA1_000070 49/6924 11/4552 38/2372
?/? c.-11A>C r.(=) p.(=) g.71993094T>G Copied from the Exome Variant Server PPA1_000069 1745/9794 1482/6402 263/3392
?/? c.64+41C>T r.(=) p.(=) g.71992979G>A Copied from the Exome Variant Server PPA1_000068 4/10412 0/6836 4/3576
?/? c.64+52C>T r.(=) p.(=) g.71992968G>A Copied from the Exome Variant Server PPA1_000067 2/7494 2/5260 0/2234
?/? c.65-67del r.(=) p.(=) g.71990222del Copied from the Exome Variant Server PPA1_000066 893/12164 501/8016 392/4148
?/? c.65-67dup r.(=) p.(=) g.71990222dup Copied from the Exome Variant Server PPA1_000065 360/12164 225/8016 135/4148
?/? c.65-41C>T r.(=) p.(=) g.71990196G>A Copied from the Exome Variant Server PPA1_000064 3659/12954 3119/8572 540/4382
?/? c.65-36A>C r.(=) p.(=) g.71990191T>G Copied from the Exome Variant Server PPA1_000063 1/12976 1/8592 0/4384
?/? c.65-31T>C r.(=) p.(=) g.71990186A>G Copied from the Exome Variant Server PPA1_000062 314/12992 286/8598 28/4394
?/? c.123+1G>A r.spl? p.? g.71990096C>T Copied from the Exome Variant Server PPA1_000061 3/13006 3/8600 0/4406
?/? c.177+13C>T r.(=) p.(=) g.71978507G>A Copied from the Exome Variant Server PPA1_000060 1/13006 0/8600 1/4406
?/? c.177+34G>A r.(=) p.(=) g.71978486C>T Copied from the Exome Variant Server PPA1_000059 1/13006 1/8600 0/4406
?/? c.178-27C>G r.(=) p.(=) g.71977714G>C Copied from the Exome Variant Server PPA1_000058 1/13002 0/8596 1/4406
?/? c.245C>T r.(?) p.(Ala82Val) g.71977620G>A Copied from the Exome Variant Server PPA1_000057 1/13006 1/8600 0/4406
?/? c.258G>A r.(=) p.(=) g.71977607C>T Copied from the Exome Variant Server PPA1_000056 36/13006 33/8600 3/4406
?/? c.282T>C r.(=) p.(=) g.71977583A>G Copied from the Exome Variant Server PPA1_000055 1/13006 1/8600 0/4406
?/? c.297+22G>A r.(=) p.(=) g.71977546C>T Copied from the Exome Variant Server PPA1_000054 1/13006 1/8600 0/4406
?/? c.297+25A>G r.(=) p.(=) g.71977543T>C Copied from the Exome Variant Server PPA1_000053 145/13006 0/8600 145/4406
?/? c.297+30A>G r.(=) p.(=) g.71977538T>C Copied from the Exome Variant Server PPA1_000052 1/13006 1/8600 0/4406
?/? c.298-22A>G r.(=) p.(=) g.71974364T>C Copied from the Exome Variant Server PPA1_000051 1/13006 1/8600 0/4406
?/? c.298-9T>C r.(=) p.(=) g.71974351A>G Copied from the Exome Variant Server PPA1_000050 1/13006 0/8600 1/4406
?/? c.298-8A>G r.(=) p.(=) g.71974350T>C Copied from the Exome Variant Server PPA1_000049 1/13006 1/8600 0/4406
?/? c.348C>T r.(=) p.(=) g.71974292G>A Copied from the Exome Variant Server PPA1_000048 1/13006 1/8600 0/4406
?/? c.379A>G r.(?) p.(Ser127Gly) g.71974261T>C Copied from the Exome Variant Server PPA1_000047 1/13006 0/8600 1/4406
?/? c.384+16A>G r.(=) p.(=) g.71974240T>C Copied from the Exome Variant Server PPA1_000046 1/13006 1/8600 0/4406
?/? c.393A>G r.(=) p.(=) g.71973337T>C Copied from the Exome Variant Server PPA1_000045 1/13006 1/8600 0/4406
?/? c.397G>A r.(?) p.(Gly133Ser) g.71973333C>T Copied from the Exome Variant Server PPA1_000044 1/13006 1/8600 0/4406
?/? c.457G>A r.(?) p.(Asp153Asn) g.71973273C>T Copied from the Exome Variant Server PPA1_000043 1/13006 1/8600 0/4406
?/? c.465A>G r.(=) p.(=) g.71973265T>C Copied from the Exome Variant Server PPA1_000042 246/13006 1/8600 245/4406
?/? c.478A>G r.(?) p.(Asn160Asp) g.71973252T>C Copied from the Exome Variant Server PPA1_000041 2/13006 2/8600 0/4406
?/? c.481G>A r.(?) p.(Val161Met) g.71973249C>T Copied from the Exome Variant Server PPA1_000040 4/13006 0/8600 4/4406
?/? c.511+35T>C r.(=) p.(=) g.71973184A>G Copied from the Exome Variant Server PPA1_000039 7/13004 3/8600 4/4404
?/? c.512-728A>G r.(=) p.(=) g.71970169T>C Copied from the Exome Variant Server PPA1_000038 1/5734 0/3982 1/1752
?/? c.512-24del r.(=) p.(=) g.71969465del Copied from the Exome Variant Server PPA1_000037 1/12516 1/8254 0/4262
?/? c.512-19A>G r.(=) p.(=) g.71969460T>C Copied from the Exome Variant Server PPA1_000036 11/13006 9/8600 2/4406
?/? c.512-13C>T r.(=) p.(=) g.71969454G>A Copied from the Exome Variant Server PPA1_000035 1/13006 0/8600 1/4406
?/? c.512-6T>A r.(=) p.(=) g.71969447A>T Copied from the Exome Variant Server PPA1_000034 2/13006 2/8600 0/4406
?/? c.512A>T r.(?) p.(Asp171Val) g.71969441T>A Copied from the Exome Variant Server PPA1_000033 1/13006 1/8600 0/4406
?/? c.531G>A r.(=) p.(=) g.71969422C>T Copied from the Exome Variant Server PPA1_000032 8/13006 8/8600 0/4406
?/? c.587C>G r.(?) p.(Pro196Arg) g.71969366G>C Copied from the Exome Variant Server PPA1_000031 1/13006 1/8600 0/4406
?/? c.625G>A r.(?) p.(Glu209Lys) g.71969328C>T Copied from the Exome Variant Server PPA1_000030 1/13006 0/8600 1/4406
?/? c.639+42T>C r.(=) p.(=) g.71969272A>G Copied from the Exome Variant Server PPA1_000029 15/13006 13/8600 2/4406
?/? c.639+51A>G r.(=) p.(=) g.71969263T>C Copied from the Exome Variant Server PPA1_000028 1/13006 1/8600 0/4406
?/? c.640-39C>T r.(=) p.(=) g.71969085G>A Copied from the Exome Variant Server PPA1_000027 1/13000 1/8596 0/4404
?/? c.640-16C>T r.(=) p.(=) g.71969062G>A Copied from the Exome Variant Server PPA1_000026 11574/13000 7433/8596 4141/4404
?/? c.669T>A r.(=) p.(=) g.71969017A>T Copied from the Exome Variant Server PPA1_000025 615/13000 104/8596 511/4404
?/? c.725+12C>T r.(=) p.(=) g.71968949G>A Copied from the Exome Variant Server PPA1_000024 2/13002 2/8596 0/4406
?/? c.725+46T>C r.(=) p.(=) g.71968915A>G Copied from the Exome Variant Server PPA1_000023 1/13004 0/8598 1/4406
?/? c.726-11T>G r.(=) p.(=) g.71966100A>C Copied from the Exome Variant Server PPA1_000022 1/13004 1/8600 0/4404
?/? c.726-7T>G r.(=) p.(=) g.71966096A>C Copied from the Exome Variant Server PPA1_000021 1/13004 1/8600 0/4404
?/? c.742_745del r.(?) p.(Ser248Argfs*78) g.71966070_71966073del Copied from the Exome Variant Server PPA1_000020 2/12518 2/8254 0/4264
?/? c.749G>A r.(?) p.(Ser250Asn) g.71966066C>T Copied from the Exome Variant Server PPA1_000019 1/13006 1/8600 0/4406
?/? c.753C>T r.(=) p.(=) g.71966062G>A Copied from the Exome Variant Server PPA1_000018 2/13006 2/8600 0/4406
?/? c.795+27del r.(=) p.(=) g.71965993del Copied from the Exome Variant Server PPA1_000017 1024/12498 689/8250 335/4248
?/? c.795+27dup r.(=) p.(=) g.71965993dup Copied from the Exome Variant Server PPA1_000016 269/12498 169/8250 100/4248
?/? c.795+27_795+28del r.(=) p.(=) g.71965992_71965993del Copied from the Exome Variant Server PPA1_000015 39/12498 28/8250 11/4248
?/? c.795+29_795+30insC r.(=) p.(=) g.71965990_71965991insG Copied from the Exome Variant Server PPA1_000014 23/12504 10/8252 13/4252
?/? c.795+50A>G r.(=) p.(=) g.71965970T>C Copied from the Exome Variant Server PPA1_000013 2/12988 2/8598 0/4390
?/? c.795+54T>C r.(=) p.(=) g.71965966A>G Copied from the Exome Variant Server PPA1_000012 1/4566 1/3182 0/1384
?/? c.800C>T r.(?) p.(Pro267Leu) g.71964667G>A Copied from the Exome Variant Server PPA1_000011 1/12992 0/8586 1/4406
?/? c.838+3A>G r.spl? p.? g.71964626T>C Copied from the Exome Variant Server PPA1_000009 1/12984 0/8578 1/4406
?/? c.838+4A>T r.spl? p.? g.71964625T>A Copied from the Exome Variant Server PPA1_000007 2/12984 0/8578 2/4406
?/? c.838+13T>A r.(=) p.(=) g.71964616A>T Copied from the Exome Variant Server PPA1_000010 1/12978 1/8574 0/4404
?/? c.838+40A>G r.(=) p.(=) g.71964589T>C Copied from the Exome Variant Server PPA1_000008 1/12974 0/8568 1/4406
?/? c.838+63del r.(=) p.(=) g.71964566del Copied from the Exome Variant Server PPA1_000006 1/12482 1/8218 0/4264
?/? c.839-39A>G r.(=) p.(=) g.71962981T>C Copied from the Exome Variant Server PPA1_000005 1/12996 1/8590 0/4406
?/? c.839-8G>A r.(=) p.(=) g.71962950C>T Copied from the Exome Variant Server PPA1_000004 1/12998 1/8592 0/4406
?/? c.839-6A>C r.(=) p.(=) g.71962948T>G Copied from the Exome Variant Server PPA1_000003 1/13000 1/8594 0/4406
?/? c.853C>T r.(?) p.(His285Tyr) g.71962928G>A Copied from the Exome Variant Server PPA1_000002 1/13000 0/8594 1/4406
?/? c.*39G>A r.(=) p.(=) g.71962872C>T Copied from the Exome Variant Server PPA1_000001 2/12998 2/8592 0/4406
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