Full data view for gene GLRA4

Information The variants shown are described using the NM_001024452.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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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.72-36T>C r.(=) p.(=) g.102979992A>G Copied from the Exome Variant Server GLRA4_000076 2742/3600 1639/2391 1103/1209 - - - - - - -
?/? c.72-16_72-15insT r.(=) p.(=) g.102979971_102979972insA Copied from the Exome Variant Server GLRA4_000075 3/9296 0/6161 3/3135 - - - - - - -
?/? c.156G>C r.(?) p.(Met52Ile) g.102979872C>G Copied from the Exome Variant Server GLRA4_000074 1/9704 1/6476 0/3228 - - - - - - -
?/? c.160C>T r.(?) p.(Arg54*) g.102979868G>A Copied from the Exome Variant Server GLRA4_000073 80/9719 1/6477 79/3242 - - - - - - -
?/? c.202+7A>G r.(=) p.(=) g.102979819T>C Copied from the Exome Variant Server GLRA4_000072 31/9777 0/6495 31/3282 - - - - - - -
?/? c.202+28C>T r.(=) p.(=) g.102979798G>A Copied from the Exome Variant Server GLRA4_000071 93/9723 1/6485 92/3238 - - - - - - -
?/? c.203-27C>T r.(=) p.(=) g.102979563G>A Copied from the Exome Variant Server GLRA4_000069 3/10168 1/6602 2/3566 - - - - - - -
?/? c.203-4T>C r.spl? p.? g.102979540A>G Copied from the Exome Variant Server GLRA4_000067 1/10219 1/6611 0/3608 - - - - - - -
?/? c.203G>A r.(?) p.(Gly68Asp) g.102979536C>T Copied from the Exome Variant Server GLRA4_000065 3/10247 1/6619 2/3628 - - - - - - -
?/? c.253A>G r.(?) p.(Ile85Val) g.102979486T>C Copied from the Exome Variant Server GLRA4_000063 9846/10203 6272/6600 3574/3603 - - - - - - -
?/? c.270+5G>C r.spl? p.? g.102979464C>G Copied from the Exome Variant Server GLRA4_000070 303/10154 0/6579 303/3575 - - - - - - -
?/? c.270+27C>T r.(=) p.(=) g.102979442G>A Copied from the Exome Variant Server GLRA4_000068 65/10025 1/6530 64/3495 - - - - - - -
?/? c.271-48C>G r.(=) p.(=) g.102979277G>C Copied from the Exome Variant Server GLRA4_000066 3/9752 0/6466 3/3286 - - - - - - -
?/? c.271-9C>A r.(=) p.(=) g.102979238G>T Copied from the Exome Variant Server GLRA4_000064 1/9981 1/6539 0/3442 - - - - - - -
?/? c.278G>A r.(?) p.(Arg93Gln) g.102979222C>T Copied from the Exome Variant Server GLRA4_000062 1/10120 1/6582 0/3538 - - - - - - -
?/? c.313C>T r.(?) p.(Pro105Ser) g.102979187G>A Copied from the Exome Variant Server GLRA4_000061 27/10347 26/6669 1/3678 - - - - - - -
?/? c.316C>T r.(?) p.(Arg106Cys) g.102979184G>A Copied from the Exome Variant Server GLRA4_000060 694/10349 4/6667 690/3682 - - - - - - -
?/? c.337C>G r.(?) p.(Pro113Ala) g.102979163G>C Copied from the Exome Variant Server GLRA4_000059 1/10410 1/6686 0/3724 - - - - - - -
?/? c.363C>G r.(=) p.(=) g.102979137G>C Copied from the Exome Variant Server GLRA4_000058 1/10418 1/6702 0/3716 - - - - - - -
?/? c.405T>G r.(=) p.(=) g.102979095A>C Copied from the Exome Variant Server GLRA4_000057 318/10387 0/6687 318/3700 - - - - - - -
?/? c.433G>A r.(?) p.(Val145Met) g.102979067C>T Copied from the Exome Variant Server GLRA4_000056 1/10371 1/6683 0/3688 - - - - - - -
?/? c.458G>A r.(?) p.(Arg153His) g.102979042C>T Copied from the Exome Variant Server GLRA4_000055 259/10272 2/6630 257/3642 - - - - - - -
?/? c.494+7C>T r.(=) p.(=) g.102978999G>A Copied from the Exome Variant Server GLRA4_000054 1/10139 0/6580 1/3559 - - - - - - -
?/? c.494+8G>A r.(=) p.(=) g.102978998C>T Copied from the Exome Variant Server GLRA4_000053 1/10121 1/6580 0/3541 - - - - - - -
?/? c.494+32G>A r.(=) p.(=) g.102978974C>T Copied from the Exome Variant Server GLRA4_000052 1/10019 0/6548 1/3471 - - - - - - -
?/? c.494+41A>C r.(=) p.(=) g.102978965T>G Copied from the Exome Variant Server GLRA4_000051 978/10016 833/6541 145/3475 - - - - - - -
?/? c.495-57del r.(=) p.(=) g.102978923del Copied from the Exome Variant Server GLRA4_000050 1/9647 1/6274 0/3373 - - - - - - -
?/? c.495-41C>T r.(=) p.(=) g.102978907G>A Copied from the Exome Variant Server GLRA4_000049 4/10031 4/6532 0/3499 - - - - - - -
?/? c.531G>T r.(?) p.(Lys177Asn) g.102978830C>A Copied from the Exome Variant Server GLRA4_000048 1/10020 0/6534 1/3486 - - - - - - -
?/? c.555C>G r.(=) p.(=) g.102978806G>C Copied from the Exome Variant Server GLRA4_000047 2704/9974 2449/6518 255/3456 - - - - - - -
?/? c.577+3A>G r.spl? p.? g.102978781T>C Copied from the Exome Variant Server GLRA4_000046 32/9882 31/6502 1/3380 - - - - - - -
?/? c.577+34A>G r.(=) p.(=) g.102978750T>C Copied from the Exome Variant Server GLRA4_000045 3/9839 3/6493 0/3346 - - - - - - -
?/? c.577+51C>T r.(=) p.(=) g.102978733G>A Copied from the Exome Variant Server GLRA4_000044 1/9854 1/6492 0/3362 - - - - - - -
?/? c.597C>A r.(?) p.(Asp199Glu) g.102977201G>T Copied from the Exome Variant Server GLRA4_000043 2/10303 1/6646 1/3657 - - - - - - -
?/? c.601G>A r.(?) p.(Val201Met) g.102977197C>T Copied from the Exome Variant Server GLRA4_000042 1/10319 1/6652 0/3667 - - - - - - -
?/? c.673C>T r.(?) p.(Arg225Trp) g.102977125G>A Copied from the Exome Variant Server GLRA4_000041 198/10375 2/6675 196/3700 - - - - - - -
?/? c.695G>A r.(?) p.(Cys232Tyr) g.102977103C>T Copied from the Exome Variant Server GLRA4_000040 1/10353 0/6662 1/3691 - - - - - - -
?/? c.735C>T r.(=) p.(=) g.102974183G>A Copied from the Exome Variant Server GLRA4_000039 17/10554 16/6723 1/3831 - - - - - - -
?/? c.736G>A r.(?) p.(Glu246Lys) g.102974182C>T Copied from the Exome Variant Server GLRA4_000038 2/10558 1/6723 1/3835 - - - - - - -
?/? c.757C>T r.(?) p.(Arg253Trp) g.102974161G>A Copied from the Exome Variant Server GLRA4_000037 2/10562 2/6727 0/3835 - - - - - - -
?/? c.778A>G r.(?) p.(Ile260Val) g.102974140T>C Copied from the Exome Variant Server GLRA4_000036 1/10562 1/6727 0/3835 - - - - - - -
?/? c.799C>T r.(=) p.(=) g.102974119G>A Copied from the Exome Variant Server GLRA4_000035 95/10562 87/6727 8/3835 - - - - - - -
?/? c.814C>T r.(=) p.(=) g.102974104G>A Copied from the Exome Variant Server GLRA4_000034 1/10562 1/6727 0/3835 - - - - - - -
?/? c.820T>C r.(?) p.(Trp274Arg) g.102974098A>G Copied from the Exome Variant Server GLRA4_000033 1/10562 1/6727 0/3835 - - - - - - -
?/? c.845A>T r.(?) p.(Asp282Val) g.102974073T>A Copied from the Exome Variant Server GLRA4_000032 1/10562 0/6727 1/3835 - - - - - - -
?/? c.883G>A r.(?) p.(Val295Met) g.102974035C>T Copied from the Exome Variant Server GLRA4_000031 1/10562 1/6727 0/3835 - - - - - - -
?/? c.926T>A r.(?) p.(Leu309*) g.102973992A>T Copied from the Exome Variant Server GLRA4_000030 1/10562 1/6727 0/3835 - - - - - - -
?/? c.933+17G>C r.(=) p.(=) g.102973968C>G Copied from the Exome Variant Server GLRA4_000029 1/10561 0/6726 1/3835 - - - - - - -
?/? c.933+49C>T r.(=) p.(=) g.102973936G>A Copied from the Exome Variant Server GLRA4_000028 8/10537 0/6720 8/3817 - - - - - - -
?/? c.934-357C>T r.(=) p.(=) g.102968954G>A Copied from the Exome Variant Server GLRA4_000027 1/10379 1/6589 0/3790 - - - - - - -
?/? c.934-331A>G r.(=) p.(=) g.102968928T>C Copied from the Exome Variant Server GLRA4_000025 13/10522 0/6698 13/3824 - - - - - - -
?/? c.934-169A>G r.(?) p.(Met116Thr) g.102968766T>C Copied from the Exome Variant Server GLRA4_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.934-133G>C r.(?) p.(Ala104Gly) g.102968730C>G Copied from the Exome Variant Server GLRA4_000021 2/10563 2/6728 0/3835 - - - - - - -
?/? c.934-109T>A r.(?) p.(Glu96Val) g.102968706A>T Copied from the Exome Variant Server GLRA4_000019 2/10563 0/6728 2/3835 - - - - - - -
?/? c.934-87C>G r.(?) p.(Ala89Pro) g.102968684G>C Copied from the Exome Variant Server GLRA4_000018 2/10563 2/6728 0/3835 - - - - - - -
?/? c.934-59C>A r.(?) p.(Glu79Asp) g.102968656G>T Copied from the Exome Variant Server GLRA4_000016 215/10563 1/6728 214/3835 - - - - - - -
?/? c.943G>A r.(?) p.(Arg57Cys) g.102968588C>T Copied from the Exome Variant Server GLRA4_000014 3/10563 0/6728 3/3835 - - - - - - -
?/? c.954C>A r.(?) p.(Arg53Leu) g.102968577G>T Copied from the Exome Variant Server GLRA4_000012 3/10563 0/6728 3/3835 - - - - - - -
?/? c.955G>A r.(?) p.(Arg53*) g.102968576C>T Copied from the Exome Variant Server GLRA4_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.970G>T r.(?) p.(Gln48Lys) g.102968561C>A Copied from the Exome Variant Server GLRA4_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1031G>A r.(?) p.(Arg344His) g.102968500C>T Copied from the Exome Variant Server GLRA4_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1038T>C r.(=) p.(=) g.102968493A>G Copied from the Exome Variant Server GLRA4_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1049T>C r.(?) p.(Ile350Thr) g.102968482A>G Copied from the Exome Variant Server GLRA4_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1051C>T r.(?) p.(Arg351*) g.102968480G>A Copied from the Exome Variant Server GLRA4_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1077A>G r.(=) p.(=) g.102968454T>C Copied from the Exome Variant Server GLRA4_000017 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1083+29C>A r.(=) p.(=) g.102968419G>T Copied from the Exome Variant Server GLRA4_000015 1/10556 1/6721 0/3835 - - - - - - -
?/? c.1083+1141T>C r.(=) p.(=) g.102967307A>G Copied from the Exome Variant Server GLRA4_000013 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1083+1158G>A r.(=) p.(=) g.102967290C>T Copied from the Exome Variant Server GLRA4_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1083+1197T>C r.(?) p.(Asn22Ser) g.102967251A>G Copied from the Exome Variant Server GLRA4_000009 33/10563 0/6728 33/3835 - - - - - - -
?/? c.1091A>G r.(?) p.(Asp364Gly) g.102962435T>C Copied from the Exome Variant Server GLRA4_000007 37/9676 34/6432 3/3244 - - - - - - -
?/? c.1097T>C r.(?) p.(Ile366Thr) g.102962429A>G Copied from the Exome Variant Server GLRA4_000006 1/9665 0/6427 1/3238 - - - - - - -
?/? c.1158T>C r.(=) p.(=) g.102962368A>G Copied from the Exome Variant Server GLRA4_000005 169/9679 1/6425 168/3254 - - - - - - -
?/? c.1183A>G r.(?) p.(Ile395Val) g.102962343T>C Copied from the Exome Variant Server GLRA4_000004 95/9701 1/6427 94/3274 - - - - - - -
?/? c.1189A>T r.(?) p.(Ser397Cys) g.102962337T>A Copied from the Exome Variant Server GLRA4_000003 1/9696 1/6428 0/3268 - - - - - - -
?/? c.1233G>T r.(=) p.(=) g.102962293C>A Copied from the Exome Variant Server GLRA4_000002 7/9691 5/6433 2/3258 - - - - - - -
?/? c.1246G>A r.(?) p.(Val416Met) g.102962280C>T Copied from the Exome Variant Server GLRA4_000001 1/9713 0/6443 1/3270 - - - - - - -
Legend