Unique variants in gene GHRHR

Information The variants shown are described using the NM_000823.3 transcript reference sequence.

129 entries on 2 pages. Showing entries 1 - 100.
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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.-45C>T r.(=) p.(=) g.31003639C>T Copied from the Exome Variant Server GHRHR_000001 575/11018 96/7240 479/3778
1 c.-14C>T r.(=) p.(=) g.31003670C>T Copied from the Exome Variant Server GHRHR_000002 4/11176 0/7324 4/3852
1 c.6C>T r.(=) p.(=) g.31003689C>T Copied from the Exome Variant Server GHRHR_000003 2/11434 2/7496 0/3938
1 c.7C>T r.(?) p.(Arg3Cys) g.31003690C>T Copied from the Exome Variant Server GHRHR_000004 1/11452 1/7504 0/3948
1 c.10C>T r.(?) p.(Arg4Trp) g.31003693C>T Copied from the Exome Variant Server GHRHR_000005 6/11488 6/7532 0/3956
1 c.22G>A r.(?) p.(Ala8Thr) g.31003705G>A Copied from the Exome Variant Server GHRHR_000006 1/11478 0/7516 1/3962
1 c.29T>G r.(?) p.(Val10Gly) g.31003712T>G Copied from the Exome Variant Server GHRHR_000007 2/11478 2/7522 0/3956
1 c.53C>T r.(?) p.(Pro18Leu) g.31003736C>T Copied from the Exome Variant Server GHRHR_000008 3/11258 3/7362 0/3896
1 c.57+21C>A r.(=) p.(=) g.31003761C>A Copied from the Exome Variant Server GHRHR_000009 9/10816 0/7054 9/3762
1 c.58-28G>C r.(=) p.(=) g.31008421G>C Copied from the Exome Variant Server GHRHR_000010 1/13006 0/8600 1/4406
1 c.67C>T r.(?) p.(His23Tyr) g.31008458C>T Copied from the Exome Variant Server GHRHR_000011 1/13006 1/8600 0/4406
1 c.93C>T r.(=) p.(=) g.31008484C>T Copied from the Exome Variant Server GHRHR_000012 1/13006 1/8600 0/4406
1 c.126A>C r.(=) p.(=) g.31008517A>C Copied from the Exome Variant Server GHRHR_000013 1/13006 1/8600 0/4406
1 c.138G>A r.(=) p.(=) g.31008529G>A Copied from the Exome Variant Server GHRHR_000014 1/13006 0/8600 1/4406
1 c.141G>C r.(?) p.(Glu47Asp) g.31008532G>C Copied from the Exome Variant Server GHRHR_000015 1/13006 0/8600 1/4406
1 c.160+17G>A r.(=) p.(=) g.31008568G>A Copied from the Exome Variant Server GHRHR_000016 1/13006 1/8600 0/4406
1 c.161-52G>T r.(=) p.(=) g.31008626G>T Copied from the Exome Variant Server GHRHR_000017 1/5730 0/3980 1/1750
1 c.161-49C>T r.(=) p.(=) g.31008629C>T Copied from the Exome Variant Server GHRHR_000018 1/13002 1/8598 0/4404
1 c.169G>A r.(?) p.(Ala57Thr) g.31008686G>A Copied from the Exome Variant Server GHRHR_000019 1696/12994 492/8592 1204/4402
1 c.171G>A r.(=) p.(=) g.31008688G>A Copied from the Exome Variant Server GHRHR_000020 1/12998 0/8594 1/4404
1 c.237G>A r.(=) p.(=) g.31008754G>A Copied from the Exome Variant Server GHRHR_000021 60/12994 1/8590 59/4404
1 c.269-36A>G r.(=) p.(=) g.31009446A>G Copied from the Exome Variant Server GHRHR_000022 2/13006 1/8600 1/4406
1 c.269-26G>T r.(=) p.(=) g.31009456G>T Copied from the Exome Variant Server GHRHR_000023 117/13006 101/8600 16/4406
1 c.280C>T r.(?) p.(Arg94Trp) g.31009493C>T Copied from the Exome Variant Server GHRHR_000024 2/13006 0/8600 2/4406
1 c.292A>G r.(?) p.(Ile98Val) g.31009505A>G Copied from the Exome Variant Server GHRHR_000025 1/13006 0/8600 1/4406
1 c.328G>A r.(?) p.(Val110Met) g.31009541G>A Copied from the Exome Variant Server GHRHR_000026 1/13006 1/8600 0/4406
1 c.336C>T r.(=) p.(=) g.31009549C>T Copied from the Exome Variant Server GHRHR_000027 1/13006 0/8600 1/4406
1 c.359C>T r.(?) p.(Ala120Val) g.31009572C>T Copied from the Exome Variant Server GHRHR_000028 4/13006 4/8600 0/4406
1 c.363G>T r.(?) p.(Glu121Asp) g.31009576G>T Copied from the Exome Variant Server GHRHR_000029 1086/13006 464/8600 622/4406
1 c.366+11T>C r.(=) p.(=) g.31009590T>C Copied from the Exome Variant Server GHRHR_000030 1/13006 0/8600 1/4406
1 c.366+13T>G r.(=) p.(=) g.31009592T>G Copied from the Exome Variant Server GHRHR_000031 693/13006 191/8600 502/4406
1 c.366+15G>A r.(=) p.(=) g.31009594G>A Copied from the Exome Variant Server GHRHR_000032 2/13006 1/8600 1/4406
1 c.366+28A>G r.(=) p.(=) g.31009607A>G Copied from the Exome Variant Server GHRHR_000033 1/13006 1/8600 0/4406
1 c.366+38T>C r.(=) p.(=) g.31009617T>C Copied from the Exome Variant Server GHRHR_000034 2/13006 2/8600 0/4406
1 c.366+42C>T r.(=) p.(=) g.31009621C>T Copied from the Exome Variant Server GHRHR_000035 49/13006 0/8600 49/4406
1 c.367-41G>T r.(=) p.(=) g.31010693G>T Copied from the Exome Variant Server GHRHR_000036 1/12410 0/8164 1/4246
1 c.435C>T r.(=) p.(=) g.31010802C>T Copied from the Exome Variant Server GHRHR_000037 1/12982 0/8578 1/4404
1 c.489C>T r.(=) p.(=) g.31011602C>T Copied from the Exome Variant Server GHRHR_000038 3/13006 2/8600 1/4406
1 c.490G>A r.(?) p.(Val164Ile) g.31011603G>A Copied from the Exome Variant Server GHRHR_000039 6/13006 6/8600 0/4406
1 c.512C>G r.(?) p.(Thr171Ser) g.31011625C>G Copied from the Exome Variant Server GHRHR_000040 18/13006 0/8600 18/4406
1 c.516T>A r.(?) p.(Phe172Leu) g.31011629T>A Copied from the Exome Variant Server GHRHR_000041 2/13006 1/8600 1/4406
1 c.528G>A r.(=) p.(=) g.31011641G>A Copied from the Exome Variant Server GHRHR_000042 2/13006 0/8600 2/4406
1 c.538T>C r.(?) p.(Phe180Leu) g.31011651T>C Copied from the Exome Variant Server GHRHR_000043 1/13006 1/8600 0/4406
1 c.551C>T r.(?) p.(Ala184Val) g.31011664C>T Copied from the Exome Variant Server GHRHR_000044 1/13006 0/8600 1/4406
1 c.564C>T r.(=) p.(=) g.31011677C>T Copied from the Exome Variant Server GHRHR_000045 678/13006 191/8600 487/4406
1 c.580C>T r.(?) p.(His194Tyr) g.31011693C>T Copied from the Exome Variant Server GHRHR_000046 2/13006 0/8600 2/4406
1 c.597+14G>A r.(=) p.(=) g.31011724G>A Copied from the Exome Variant Server GHRHR_000047 1/13006 0/8600 1/4406
1 c.597+37_597+38del r.(=) p.(=) g.31011747_31011748del Copied from the Exome Variant Server GHRHR_000048 112/12518 2/8254 110/4264
1 c.598-27C>T r.(=) p.(=) g.31013573C>T Copied from the Exome Variant Server GHRHR_000049 2/13006 0/8600 2/4406
1 c.598-10T>C r.(=) p.(=) g.31013590T>C Copied from the Exome Variant Server GHRHR_000050 1455/13006 277/8600 1178/4406
1 c.598G>A r.(?) p.(Val200Ile) g.31013600G>A Copied from the Exome Variant Server GHRHR_000051 1/13006 1/8600 0/4406
1 c.634G>A r.(?) p.(Ala212Thr) g.31013636G>A Copied from the Exome Variant Server GHRHR_000052 1/13006 1/8600 0/4406
1 c.658C>T r.(=) p.(=) g.31013660C>T Copied from the Exome Variant Server GHRHR_000053 10/13006 1/8600 9/4406
1 c.672C>T r.(=) p.(=) g.31013674C>T Copied from the Exome Variant Server GHRHR_000054 1/13006 0/8600 1/4406
1 c.673G>A r.(?) p.(Val225Ile) g.31013675G>A Copied from the Exome Variant Server GHRHR_000055 5/13006 1/8600 4/4406
1 c.707C>T r.(?) p.(Pro236Leu) g.31013709C>T Copied from the Exome Variant Server GHRHR_000056 1/13006 1/8600 0/4406
1 c.741C>T r.(=) p.(=) g.31013743C>T Copied from the Exome Variant Server GHRHR_000057 66/13006 10/8600 56/4406
1 c.751+12G>A r.(=) p.(=) g.31013765G>A Copied from the Exome Variant Server GHRHR_000058 40/13006 38/8600 2/4406
1 c.751+16G>T r.(=) p.(=) g.31013769G>T Copied from the Exome Variant Server GHRHR_000059 471/13006 4/8600 467/4406
1 c.751+17G>A r.(=) p.(=) g.31013770G>A Copied from the Exome Variant Server GHRHR_000060 1/13006 1/8600 0/4406
1 c.751+18G>T r.(=) p.(=) g.31013771G>T Copied from the Exome Variant Server GHRHR_000061 107/13006 0/8600 107/4406
1 c.751+31_751+32insGGA r.(=) p.(=) g.31013784_31013785insGGA Copied from the Exome Variant Server GHRHR_000062 1/12510 1/8252 0/4258
1 c.751+33G>A r.(=) p.(=) g.31013786G>A Copied from the Exome Variant Server GHRHR_000063 1/13004 1/8600 0/4404
1 c.751+34A>T r.(=) p.(=) g.31013787A>T Copied from the Exome Variant Server GHRHR_000064 4/13004 4/8600 0/4404
1 c.752-51_752-50del r.(=) p.(=) g.31013993_31013994del Copied from the Exome Variant Server GHRHR_000065 39/12518 31/8254 8/4264
1 c.752-27G>A r.(=) p.(=) g.31014017G>A Copied from the Exome Variant Server GHRHR_000067 1/13006 1/8600 0/4406
1 c.759C>T r.(=) p.(=) g.31014051C>T Copied from the Exome Variant Server GHRHR_000069 1/13006 1/8600 0/4406
1 c.760G>A r.(?) p.(Val254Met) g.31014052G>A Copied from the Exome Variant Server GHRHR_000071 1/13006 1/8600 0/4406
1 c.777G>A r.(=) p.(=) g.31014069G>A Copied from the Exome Variant Server GHRHR_000066 1/13006 0/8600 1/4406
1 c.796G>A r.(?) p.(Ala266Thr) g.31014088G>A Copied from the Exome Variant Server GHRHR_000068 1/13006 1/8600 0/4406
1 c.811G>A r.(?) p.(Ala271Thr) g.31014103G>A Copied from the Exome Variant Server GHRHR_000070 1/13006 1/8600 0/4406
1 c.812+12C>T r.(=) p.(=) g.31014116C>T Copied from the Exome Variant Server GHRHR_000072 5/13006 5/8600 0/4406
1 c.812+22G>A r.(=) p.(=) g.31014126G>A Copied from the Exome Variant Server GHRHR_000073 1/13006 1/8600 0/4406
1 c.812+30C>T r.(=) p.(=) g.31014134C>T Copied from the Exome Variant Server GHRHR_000074 1/13006 1/8600 0/4406
1 c.812+65G>A r.(=) p.(=) g.31014169G>A Copied from the Exome Variant Server GHRHR_000075 30/4566 0/3182 30/1384
1 c.813-55C>A r.(=) p.(=) g.31014531C>A Copied from the Exome Variant Server GHRHR_000076 6/4566 0/3182 6/1384
1 c.813-36A>T r.(=) p.(=) g.31014550A>T Copied from the Exome Variant Server GHRHR_000077 1/13006 0/8600 1/4406
1 c.828C>T r.(=) p.(=) g.31014601C>T Copied from the Exome Variant Server GHRHR_000078 1/13006 1/8600 0/4406
1 c.839C>T r.(?) p.(Pro280Leu) g.31014612C>T Copied from the Exome Variant Server GHRHR_000079 4/13006 0/8600 4/4406
1 c.870C>T r.(=) p.(=) g.31014643C>T Copied from the Exome Variant Server GHRHR_000080 1/13006 1/8600 0/4406
1 c.873C>T r.(=) p.(=) g.31014646C>T Copied from the Exome Variant Server GHRHR_000081 2/13006 0/8600 2/4406
1 c.876G>C r.(=) p.(=) g.31014649G>C Copied from the Exome Variant Server GHRHR_000082 1/13006 0/8600 1/4406
1 c.879C>A r.(=) p.(=) g.31014652C>A Copied from the Exome Variant Server GHRHR_000083 1/13006 1/8600 0/4406
1 c.882+18T>A r.(=) p.(=) g.31014673T>A Copied from the Exome Variant Server GHRHR_000084 12/13006 1/8600 11/4406
1 c.885G>T r.(=) p.(=) g.31015394G>T Copied from the Exome Variant Server GHRHR_000085 2/13006 2/8600 0/4406
1 c.940G>T r.(?) p.(Ala314Ser) g.31015449G>T Copied from the Exome Variant Server GHRHR_000086 2/13006 0/8600 2/4406
1 c.960C>T r.(=) p.(=) g.31015469C>T Copied from the Exome Variant Server GHRHR_000087 1/13006 1/8600 0/4406
1 c.974+43G>A r.(=) p.(=) g.31015526G>A Copied from the Exome Variant Server GHRHR_000088 1/13006 1/8600 0/4406
1 c.974+47G>A r.(=) p.(=) g.31015530G>A Copied from the Exome Variant Server GHRHR_000089 4/13006 1/8600 3/4406
1 c.974+49G>A r.(=) p.(=) g.31015532G>A Copied from the Exome Variant Server GHRHR_000090 107/13006 2/8600 105/4406
1 c.974+82T>G r.(=) p.(=) g.31015565T>G Copied from the Exome Variant Server GHRHR_000091 706/7272 497/4618 209/2654
1 c.975-51C>G r.(=) p.(=) g.31015993C>G Copied from the Exome Variant Server GHRHR_000092 1/13006 1/8600 0/4406
1 c.975-26G>A r.(=) p.(=) g.31016018G>A Copied from the Exome Variant Server GHRHR_000093 1263/13006 906/8600 357/4406
1 c.975-18G>A r.(=) p.(=) g.31016026G>A Copied from the Exome Variant Server GHRHR_000094 16/13006 15/8600 1/4406
1 c.975-6C>A r.(=) p.(=) g.31016038C>A Copied from the Exome Variant Server GHRHR_000095 14/13006 13/8600 1/4406
1 c.975-4G>T r.spl? p.? g.31016040G>T Copied from the Exome Variant Server GHRHR_000096 1/13006 1/8600 0/4406
1 c.990G>A r.(=) p.(=) g.31016059G>A Copied from the Exome Variant Server GHRHR_000097 2/13006 2/8600 0/4406
1 c.1007C>T r.(?) p.(Pro336Leu) g.31016076C>T Copied from the Exome Variant Server GHRHR_000098 1/13006 1/8600 0/4406
1 c.1027A>G r.(?) p.(Ile343Val) g.31016096A>G Copied from the Exome Variant Server GHRHR_000099 1/13006 0/8600 1/4406
1 c.1062G>C r.(=) p.(=) g.31016131G>C Copied from the Exome Variant Server GHRHR_000100 3/13006 0/8600 3/4406
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