All transcript variants in gene GNAS

Information The variants shown are described using the NM_000516.4 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-24_-21del r.(=) p.(=) g.57466758_57466761del Copied from the Exome Variant Server GNAS_000001 71/9794 23/6584 48/3210
?/? c.-23del r.(=) p.(=) g.57466759del Copied from the Exome Variant Server GNAS_000002 35/9964 15/6706 20/3258
?/? c.-20_-12del r.(=) p.(=) g.57466762_57466770del Copied from the Exome Variant Server GNAS_000003 55/10402 42/6966 13/3436
?/? c.-18del r.(=) p.(=) g.57466764del Copied from the Exome Variant Server GNAS_000004 72/10654 53/7128 19/3526
?/? c.-17_-12dup r.(=) p.(=) g.57466765_57466770dup Copied from the Exome Variant Server GNAS_000005 55/10402 0/6966 55/3436
?/? c.-14_-12del r.(=) p.(=) g.57466768_57466770del Copied from the Exome Variant Server GNAS_000006 379/10402 270/6966 109/3436
?/? c.-14_-12dup r.(=) p.(=) g.57466768_57466770dup Copied from the Exome Variant Server GNAS_000007 13/10402 9/6966 4/3436
?/? c.81G>A r.(=) p.(=) g.57466862G>A Copied from the Exome Variant Server GNAS_000008 1/12992 0/8592 1/4400
?/? c.88C>T r.(=) p.(=) g.57466869C>T Copied from the Exome Variant Server GNAS_000009 1/12992 0/8592 1/4400
?/? c.90G>A r.(=) p.(=) g.57466871G>A Copied from the Exome Variant Server GNAS_000010 3/12988 3/8590 0/4398
?/? c.108C>T r.(=) p.(=) g.57466889C>T Copied from the Exome Variant Server GNAS_000011 2/12980 2/8586 0/4394
?/? c.139+12C>A r.(=) p.(=) g.57466932C>A Copied from the Exome Variant Server GNAS_000012 1/12778 0/8482 1/4296
?/? c.139+18G>A r.(=) p.(=) g.57466938G>A Copied from the Exome Variant Server GNAS_000013 1/12674 1/8414 0/4260
?/? c.140-25C>T r.(=) p.(=) g.57470642C>T Copied from the Exome Variant Server GNAS_000014 1/13006 1/8600 0/4406
?/? c.140-22G>T r.(=) p.(=) g.57470645G>T Copied from the Exome Variant Server GNAS_000015 2/13006 2/8600 0/4406
?/? c.159A>G r.(=) p.(=) g.57470686A>G Copied from the Exome Variant Server GNAS_000016 4/13006 0/8600 4/4406
?/? c.201G>A r.(=) p.(=) g.57470728G>A Copied from the Exome Variant Server GNAS_000017 1/13006 1/8600 0/4406
?/? c.212+39G>C r.(=) p.(=) g.57470778G>C Copied from the Exome Variant Server GNAS_000018 2/13006 2/8600 0/4406
?/? c.212+45G>C r.(=) p.(=) g.57470784G>C Copied from the Exome Variant Server GNAS_000019 2/13006 0/8600 2/4406
?/? c.213-74G>C r.(=) p.(=) g.57473922G>C Copied from the Exome Variant Server GNAS_000020 1/4566 1/3182 0/1384
?/? c.213-67_213-64del r.(=) p.(=) g.57473929_57473932del Copied from the Exome Variant Server GNAS_000021 13/12518 4/8254 9/4264
?/? c.213-54T>C r.(=) p.(=) g.57473942T>C Copied from the Exome Variant Server GNAS_000022 1/4566 0/3182 1/1384
?/? c.213-46_213-45insGC r.(=) p.(=) g.57473950_57473951insGC Copied from the Exome Variant Server GNAS_000023 3/12518 2/8254 1/4264
?/? c.213-11C>T r.(=) p.(=) g.57473985C>T Copied from the Exome Variant Server GNAS_000024 2/13006 0/8600 2/4406
?/? c.214G>A r.(?) p.(Gly72Ser) g.57473997G>A Copied from the Exome Variant Server GNAS_000025 1/13006 0/8600 1/4406
?/? c.219C>T r.(=) p.(=) g.57474002C>T Copied from the Exome Variant Server GNAS_000026 5/13006 5/8600 0/4406
?/? c.230C>T r.(?) p.(Pro77Leu) g.57474013C>T Copied from the Exome Variant Server GNAS_000027 2/13006 2/8600 0/4406
?/? c.257+27T>C r.(=) p.(=) g.57474067T>C Copied from the Exome Variant Server GNAS_000028 1/13006 1/8600 0/4406
?/? c.257+32_257+35del r.(=) p.(=) g.57474072_57474075del Copied from the Exome Variant Server GNAS_000029 1/12516 1/8254 0/4262
?/? c.257+48A>G r.(=) p.(=) g.57474088A>G Copied from the Exome Variant Server GNAS_000030 1/13006 0/8600 1/4406
?/? c.257+483C>T r.(=) p.(=) g.57474523C>T Copied from the Exome Variant Server GNAS_000031 72/11772 1/8146 71/3626
?/? c.257+517C>G r.(=) p.(=) g.57474557C>G Copied from the Exome Variant Server GNAS_000032 2/11798 2/8152 0/3646
?/? c.257+534A>G r.(=) p.(=) g.57474574A>G Copied from the Exome Variant Server GNAS_000033 12/11810 0/8156 12/3654
?/? c.257+568G>A r.(=) p.(=) g.57474608G>A Copied from the Exome Variant Server GNAS_000034 1/4566 0/3182 1/1384
?/? c.258-28_258-24del r.(=) p.(=) g.57478558_57478562del Copied from the Exome Variant Server GNAS_000035 7/12518 6/8254 1/4264
?/? c.258-26_258-24del r.(=) p.(=) g.57478560_57478562del Copied from the Exome Variant Server GNAS_000036 7/12518 6/8254 1/4264
?/? c.258-23T>G r.(=) p.(=) g.57478563T>G Copied from the Exome Variant Server GNAS_000037 1/13006 1/8600 0/4406
?/? c.306G>A r.(=) p.(=) g.57478634G>A Copied from the Exome Variant Server GNAS_000038 21/13006 0/8600 21/4406
?/? c.312+4C>T r.spl? p.? g.57478644C>T Copied from the Exome Variant Server GNAS_000039 1/13006 0/8600 1/4406
?/? c.312+15C>T r.(=) p.(=) g.57478655C>T Copied from the Exome Variant Server GNAS_000040 2/13006 2/8600 0/4406
?/? c.312+17T>C r.(=) p.(=) g.57478657T>C Copied from the Exome Variant Server GNAS_000041 4/13006 3/8600 1/4406
?/? c.312+36C>T r.(=) p.(=) g.57478676C>T Copied from the Exome Variant Server GNAS_000042 5/13006 4/8600 1/4406
?/? c.313-30T>C r.(=) p.(=) g.57478697T>C Copied from the Exome Variant Server GNAS_000043 8/13006 0/8600 8/4406
?/? c.313-22C>T r.(=) p.(=) g.57478705C>T Copied from the Exome Variant Server GNAS_000044 4/13006 1/8600 3/4406
?/? c.313-21del r.(=) p.(=) g.57478706del Copied from the Exome Variant Server GNAS_000045 1/12518 0/8254 1/4264
?/? c.342G>A r.(=) p.(=) g.57478756G>A Copied from the Exome Variant Server GNAS_000046 1/13006 0/8600 1/4406
?/? c.357G>A r.(=) p.(=) g.57478771G>A Copied from the Exome Variant Server GNAS_000047 2/13006 2/8600 0/4406
?/? c.366C>T r.(=) p.(=) g.57478780C>T Copied from the Exome Variant Server GNAS_000048 82/13006 1/8600 81/4406
?/? c.384G>A r.(=) p.(=) g.57478798G>A Copied from the Exome Variant Server GNAS_000049 88/13006 1/8600 87/4406
?/? c.393C>T r.(=) p.(=) g.57478807C>T Copied from the Exome Variant Server GNAS_000050 7536/13006 4238/8600 3298/4406
?/? c.398G>A r.(?) p.(Ser133Asn) g.57478812G>A Copied from the Exome Variant Server GNAS_000051 1/13006 1/8600 0/4406
?/? c.409G>A r.(?) p.(Val137Met) g.57478823G>A Copied from the Exome Variant Server GNAS_000052 1/13006 1/8600 0/4406
?/? c.432C>T r.(=) p.(=) g.57478846C>T Copied from the Exome Variant Server GNAS_000053 109/13006 1/8600 108/4406
?/? c.432+15G>A r.(=) p.(=) g.57478861G>A Copied from the Exome Variant Server GNAS_000054 2/13006 2/8600 0/4406
?/? c.432+35C>T r.(=) p.(=) g.57478881C>T Copied from the Exome Variant Server GNAS_000055 2/13006 0/8600 2/4406
?/? c.433-26C>T r.(=) p.(=) g.57480412C>T Copied from the Exome Variant Server GNAS_000056 1/13006 0/8600 1/4406
?/? c.433-18T>C r.(=) p.(=) g.57480420T>C Copied from the Exome Variant Server GNAS_000057 965/13006 173/8600 792/4406
?/? c.489C>T r.(=) p.(=) g.57480494C>T Copied from the Exome Variant Server GNAS_000058 1/13006 1/8600 0/4406
?/? c.530+10C>T r.(=) p.(=) g.57480545C>T Copied from the Exome Variant Server GNAS_000059 2/13006 1/8600 1/4406
?/? c.530+11G>A r.(=) p.(=) g.57480546G>A Copied from the Exome Variant Server GNAS_000060 1/13006 1/8600 0/4406
?/? c.530+39G>T r.(=) p.(=) g.57480574G>T Copied from the Exome Variant Server GNAS_000061 2/13006 0/8600 2/4406
?/? c.531-37G>A r.(=) p.(=) g.57484180G>A Copied from the Exome Variant Server GNAS_000062 2/13006 2/8600 0/4406
?/? c.531-21G>A r.(=) p.(=) g.57484196G>A Copied from the Exome Variant Server GNAS_000063 1/13006 1/8600 0/4406
?/? c.531-18_531-15del r.(=) p.(=) g.57484199_57484202del Copied from the Exome Variant Server GNAS_000064 25/12518 23/8254 2/4264
?/? c.555C>T r.(=) p.(=) g.57484241C>T Copied from the Exome Variant Server GNAS_000065 1154/13006 125/8600 1029/4406
?/? c.585+3G>A r.spl? p.? g.57484274G>A Copied from the Exome Variant Server GNAS_000066 1/13006 0/8600 1/4406
?/? c.585+6C>T r.(=) p.(=) g.57484277C>T Copied from the Exome Variant Server GNAS_000067 2/13006 1/8600 1/4406
?/? c.585+7del r.(=) p.(=) g.57484278del Copied from the Exome Variant Server GNAS_000068 3/12518 3/8254 0/4264
?/? c.585+26G>A r.(=) p.(=) g.57484297G>A Copied from the Exome Variant Server GNAS_000069 1/13006 1/8600 0/4406
?/? c.585+31C>T r.(=) p.(=) g.57484302C>T Copied from the Exome Variant Server GNAS_000070 7/13006 7/8600 0/4406
?/? c.585+35G>C r.(=) p.(=) g.57484306G>C Copied from the Exome Variant Server GNAS_000071 1/13006 1/8600 0/4406
?/? c.585+40C>G r.(=) p.(=) g.57484311C>G Copied from the Exome Variant Server GNAS_000072 9/13006 8/8600 1/4406
?/? c.585+52C>G r.(=) p.(=) g.57484323C>G Copied from the Exome Variant Server GNAS_000073 4/7272 3/4618 1/2654
?/? c.585+55C>G r.(=) p.(=) g.57484326C>G Copied from the Exome Variant Server GNAS_000074 268/4566 52/3182 216/1384
?/? c.586-44T>G r.(=) p.(=) g.57484361T>G Copied from the Exome Variant Server GNAS_000075 1/13006 0/8600 1/4406
?/? c.586-43C>T r.(=) p.(=) g.57484362C>T Copied from the Exome Variant Server GNAS_000076 3/13006 0/8600 3/4406
?/? c.586-42G>A r.(=) p.(=) g.57484363G>A Copied from the Exome Variant Server GNAS_000077 253/13006 231/8600 22/4406
?/? c.586-22A>G r.(=) p.(=) g.57484383A>G Copied from the Exome Variant Server GNAS_000078 1/13006 1/8600 0/4406
?/? c.586-12A>G r.(=) p.(=) g.57484393A>G Copied from the Exome Variant Server GNAS_000079 1/13006 1/8600 0/4406
?/? c.659+35T>C r.(=) p.(=) g.57484513T>C Copied from the Exome Variant Server GNAS_000080 1/13006 0/8600 1/4406
?/? c.660-47T>G r.(=) p.(=) g.57484529T>G Copied from the Exome Variant Server GNAS_000081 5/13006 0/8600 5/4406
?/? c.660-19C>T r.(=) p.(=) g.57484557C>T Copied from the Exome Variant Server GNAS_000082 1/13006 0/8600 1/4406
?/? c.684C>T r.(=) p.(=) g.57484600C>T Copied from the Exome Variant Server GNAS_000083 1/13006 0/8600 1/4406
?/? c.717C>T r.(=) p.(=) g.57484633C>T Copied from the Exome Variant Server GNAS_000084 3/13006 0/8600 3/4406
?/? c.718+27G>A r.(=) p.(=) g.57484661G>A Copied from the Exome Variant Server GNAS_000085 2/13006 1/8600 1/4406
?/? c.719-44C>T r.(=) p.(=) g.57484695C>T Copied from the Exome Variant Server GNAS_000086 1/13006 0/8600 1/4406
?/? c.719-37G>A r.(=) p.(=) g.57484702G>A Copied from the Exome Variant Server GNAS_000087 1/13006 1/8600 0/4406
?/? c.719-31C>T r.(=) p.(=) g.57484708C>T Copied from the Exome Variant Server GNAS_000088 1/13006 1/8600 0/4406
?/? c.729C>T r.(=) p.(=) g.57484749C>T Copied from the Exome Variant Server GNAS_000089 1/13006 1/8600 0/4406
?/? c.839+28C>T r.(=) p.(=) g.57484887C>T Copied from the Exome Variant Server GNAS_000090 1/13006 0/8600 1/4406
?/? c.839+47G>C r.(=) p.(=) g.57484906G>C Copied from the Exome Variant Server GNAS_000091 1/13006 1/8600 0/4406
?/? c.840-47C>T r.(=) p.(=) g.57484959C>T Copied from the Exome Variant Server GNAS_000092 1/13006 0/8600 1/4406
?/? c.840-40G>A r.(=) p.(=) g.57484966G>A Copied from the Exome Variant Server GNAS_000093 3/13006 0/8600 3/4406
?/? c.918G>A r.(=) p.(=) g.57485084G>A Copied from the Exome Variant Server GNAS_000094 1/13006 1/8600 0/4406
?/? c.951C>T r.(=) p.(=) g.57485117C>T Copied from the Exome Variant Server GNAS_000095 85/13006 0/8600 85/4406
?/? c.970+26G>A r.(=) p.(=) g.57485162G>A Copied from the Exome Variant Server GNAS_000096 1/13006 0/8600 1/4406
?/? c.984C>T r.(=) p.(=) g.57485402C>T Copied from the Exome Variant Server GNAS_000097 1/13006 1/8600 0/4406
?/? c.1036C>T r.(=) p.(=) g.57485454C>T Copied from the Exome Variant Server GNAS_000098 4/13006 0/8600 4/4406
?/? c.1038+17_1038+20del r.(=) p.(=) g.57485473_57485476del Copied from the Exome Variant Server GNAS_000099 2/12518 2/8254 0/4264
?/? c.1039-39G>A r.(=) p.(=) g.57485699G>A Copied from the Exome Variant Server GNAS_000100 23/13006 0/8600 23/4406
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