Unique variants in gene GPR50

Information The variants shown are described using the NM_004224.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-14T>G r.(=) p.(=) g.150345180T>G Copied from the Exome Variant Server GPR50_000065 4/9943 3/6476 1/3467
1 c.61C>G r.(?) p.(Pro21Ala) g.150345254C>G Copied from the Exome Variant Server GPR50_000066 1/9622 1/6416 0/3206
1 c.75G>A r.(=) p.(=) g.150345268G>A Copied from the Exome Variant Server GPR50_000062 1/9591 0/6409 1/3182
1 c.92T>C r.(?) p.(Met31Thr) g.150345285T>C Copied from the Exome Variant Server GPR50_000063 1/9632 1/6422 0/3210
1 c.101C>A r.(?) p.(Ala34Glu) g.150345294C>A Copied from the Exome Variant Server GPR50_000064 1/9660 0/6432 1/3228
1 c.116T>C r.(?) p.(Ile39Thr) g.150345309T>C Copied from the Exome Variant Server GPR50_000059 1/9665 0/6425 1/3240
1 c.132C>T r.(=) p.(=) g.150345325C>T Copied from the Exome Variant Server GPR50_000060 1/9715 0/6443 1/3272
1 c.178C>T r.(?) p.(Arg60Trp) g.150345371C>T Copied from the Exome Variant Server GPR50_000001 2/9685 2/6431 0/3254
1 c.179G>A r.(?) p.(Arg60Gln) g.150345372G>A Copied from the Exome Variant Server GPR50_000002 1/9670 1/6430 0/3240
1 c.187+49C>A r.(=) p.(=) g.150345429C>A Copied from the Exome Variant Server GPR50_000003 1/9551 1/6397 0/3154
1 c.188-32C>T r.(=) p.(=) g.150348211C>T Copied from the Exome Variant Server GPR50_000004 1/9963 1/6537 0/3426
1 c.188-15C>T r.(=) p.(=) g.150348228C>T Copied from the Exome Variant Server GPR50_000005 8914/10017 5787/6547 3127/3470
1 c.229G>A r.(?) p.(Val77Met) g.150348284G>A Copied from the Exome Variant Server GPR50_000006 1/10351 1/6638 0/3713
1 c.307A>G r.(?) p.(Met103Val) g.150348362A>G Copied from the Exome Variant Server GPR50_000007 1/10545 0/6718 1/3827
1 c.409G>A r.(?) p.(Glu137Lys) g.150348464G>A Copied from the Exome Variant Server GPR50_000008 1/10562 1/6727 0/3835
1 c.428G>A r.(?) p.(Arg143His) g.150348483G>A Copied from the Exome Variant Server GPR50_000009 1/10558 1/6725 0/3833
1 c.486C>T r.(=) p.(=) g.150348541C>T Copied from the Exome Variant Server GPR50_000010 1/10538 0/6717 1/3821
1 c.506T>C r.(?) p.(Ile169Thr) g.150348561T>C Copied from the Exome Variant Server GPR50_000011 1/10533 0/6710 1/3823
1 c.508G>A r.(?) p.(Glu170Lys) g.150348563G>A Copied from the Exome Variant Server GPR50_000012 2/10529 1/6708 1/3821
1 c.514G>A r.(?) p.(Asp172Asn) g.150348569G>A Copied from the Exome Variant Server GPR50_000013 1/10522 1/6703 0/3819
1 c.521G>A r.(?) p.(Arg174His) g.150348576G>A Copied from the Exome Variant Server GPR50_000014 4/10504 4/6695 0/3809
1 c.555C>T r.(=) p.(=) g.150348610C>T Copied from the Exome Variant Server GPR50_000015 46/10458 43/6671 3/3787
1 c.586C>A r.(?) p.(His196Asn) g.150348641C>A Copied from the Exome Variant Server GPR50_000016 6/10395 0/6640 6/3755
1 c.651G>A r.(=) p.(=) g.150348706G>A Copied from the Exome Variant Server GPR50_000017 1/10177 1/6579 0/3598
1 c.657T>C r.(=) p.(=) g.150348712T>C Copied from the Exome Variant Server GPR50_000018 3/10143 0/6569 3/3574
1 c.792G>A r.(=) p.(=) g.150348847G>A Copied from the Exome Variant Server GPR50_000019 1/10183 0/6581 1/3602
1 c.818A>G r.(?) p.(Asn273Ser) g.150348873A>G Copied from the Exome Variant Server GPR50_000020 1/10171 0/6583 1/3588
1 c.873T>A r.(=) p.(=) g.150348928T>A Copied from the Exome Variant Server GPR50_000021 1/10034 1/6547 0/3487
1 c.937C>T r.(?) p.(Arg313Trp) g.150348992C>T Copied from the Exome Variant Server GPR50_000022 1/10040 1/6531 0/3509
1 c.989A>C r.(?) p.(Gln330Pro) g.150349044A>C Copied from the Exome Variant Server GPR50_000023 1/10192 1/6580 0/3612
1 c.990G>T r.(?) p.(Gln330His) g.150349045G>T Copied from the Exome Variant Server GPR50_000024 1/10188 0/6580 1/3608
1 c.996C>T r.(=) p.(=) g.150349051C>T Copied from the Exome Variant Server GPR50_000025 1/10202 0/6578 1/3624
1 c.998G>C r.(?) p.(Arg333Pro) g.150349053G>C Copied from the Exome Variant Server GPR50_000061 2/10229 0/6587 2/3642
1 c.1010G>A r.(?) p.(Arg337His) g.150349065G>A Copied from the Exome Variant Server GPR50_000040 2/10230 0/6594 2/3636
1 c.1012G>A r.(?) p.(Ala338Thr) g.150349067G>A Copied from the Exome Variant Server GPR50_000041 2/10258 2/6598 0/3660
1 c.1051C>T r.(?) p.(Arg351Cys) g.150349106C>T Copied from the Exome Variant Server GPR50_000042 7/10388 0/6636 7/3752
1 c.1052G>A r.(?) p.(Arg351His) g.150349107G>A Copied from the Exome Variant Server GPR50_000043 4/10388 0/6630 4/3758
1 c.1085C>T r.(?) p.(Pro362Leu) g.150349140C>T Copied from the Exome Variant Server GPR50_000044 2/10392 2/6640 0/3752
1 c.1093G>A r.(?) p.(Val365Ile) g.150349148G>A Copied from the Exome Variant Server GPR50_000045 1/10405 1/6647 0/3758
1 c.1096C>T r.(?) p.(Arg366Trp) g.150349151C>T Copied from the Exome Variant Server GPR50_000046 3/10404 3/6649 0/3755
1 c.1097G>A r.(?) p.(Arg366Gln) g.150349152G>A Copied from the Exome Variant Server GPR50_000047 1/10397 1/6644 0/3753
1 c.1138G>A r.(?) p.(Asp380Asn) g.150349193G>A Copied from the Exome Variant Server GPR50_000048 1/10346 0/6625 1/3721
1 c.1151G>C r.(?) p.(Gly384Ala) g.150349206G>C Copied from the Exome Variant Server GPR50_000049 8/10310 0/6619 8/3691
1 c.1181C>T r.(?) p.(Ser394Phe) g.150349236C>T Copied from the Exome Variant Server GPR50_000050 1/10247 1/6597 0/3650
1 c.1190G>A r.(?) p.(Arg397His) g.150349245G>A Copied from the Exome Variant Server GPR50_000051 1/10204 1/6591 0/3613
1 c.1251C>T r.(=) p.(=) g.150349306C>T Copied from the Exome Variant Server GPR50_000052 1/10168 1/6575 0/3593
1 c.1326_1346del r.(?) p.(Ala448_Lys454del) g.150349381_150349401del Copied from the Exome Variant Server GPR50_000053 22/9799 11/6346 11/3453
1 c.1342G>A r.(?) p.(Ala448Thr) g.150349397G>A Copied from the Exome Variant Server GPR50_000054 1/10290 0/6623 1/3667
1 c.1343C>A r.(?) p.(Ala448Asp) g.150349398C>A Copied from the Exome Variant Server GPR50_000055 1/10287 0/6624 1/3663
1 c.1369T>C r.(?) p.(Ser457Pro) g.150349424T>C Copied from the Exome Variant Server GPR50_000056 1/10287 0/6640 1/3647
1 c.1376A>G r.(?) p.(His459Arg) g.150349431A>G Copied from the Exome Variant Server GPR50_000057 1/10286 0/6635 1/3651
1 c.1434T>C r.(=) p.(=) g.150349489T>C Copied from the Exome Variant Server GPR50_000058 1/10259 0/6614 1/3645
1 c.1441C>A r.(?) p.(His481Asn) g.150349496C>A Copied from the Exome Variant Server GPR50_000026 1/10254 1/6611 0/3643
1 c.1478G>A r.(?) p.(Ser493Asn) g.150349533G>A Copied from the Exome Variant Server GPR50_000027 1048/10241 558/6594 490/3647
1 c.1503_1514del r.(?) p.(Thr502_His505del) g.150349558_150349569del Copied from the Exome Variant Server GPR50_000028 3975/9832 2487/6329 1488/3503
1 c.1549_1566del r.(?) p.(Thr517_Lys522del) g.150349604_150349621del Copied from the Exome Variant Server GPR50_000029 113/10006 78/6385 35/3621
1 c.1563C>T r.(=) p.(=) g.150349618C>T Copied from the Exome Variant Server GPR50_000030 1/10429 1/6660 0/3769
1 c.1594A>G r.(?) p.(Thr532Ala) g.150349649A>G Copied from the Exome Variant Server GPR50_000031 4674/10474 2782/6685 1892/3789
1 c.1607A>G r.(?) p.(Asn536Ser) g.150349662A>G Copied from the Exome Variant Server GPR50_000032 1/10462 0/6675 1/3787
1 c.1635C>T r.(=) p.(=) g.150349690C>T Copied from the Exome Variant Server GPR50_000033 1/10437 1/6670 0/3767
1 c.1636G>A r.(?) p.(Glu546Lys) g.150349691G>A Copied from the Exome Variant Server GPR50_000034 2/10432 0/6671 2/3761
1 c.1656C>A r.(?) p.(His552Gln) g.150349711C>A Copied from the Exome Variant Server GPR50_000035 2/10393 2/6652 0/3741
1 c.1689G>A r.(=) p.(=) g.150349744G>A Copied from the Exome Variant Server GPR50_000036 54/10391 53/6652 1/3739
1 c.1747A>G r.(?) p.(Thr583Ala) g.150349802A>G Copied from the Exome Variant Server GPR50_000037 1/10427 1/6672 0/3755
1 c.1810G>A r.(?) p.(Val604Met) g.150349865G>A Copied from the Exome Variant Server GPR50_000038 6/10302 6/6637 0/3665
1 c.1816A>G r.(?) p.(Ile606Val) g.150349871A>G Copied from the Exome Variant Server GPR50_000039 4866/10304 3870/6633 996/3671
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