Unique variants in gene AR

Information The variants shown are described using the NM_000044.3 transcript reference sequence.

101 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.-9A>G r.(=) p.(=) g.66764980A>G Copied from the Exome Variant Server AR_000001 1/10563 1/6728 0/3835
1 c.6A>C r.(?) p.(Glu2Asp) g.66764994A>C Copied from the Exome Variant Server AR_000002 1/10562 1/6728 0/3834
1 c.45G>A r.(=) p.(=) g.66765033G>A Copied from the Exome Variant Server AR_000003 1/10563 1/6728 0/3835
1 c.51G>T r.(?) p.(Lys17Asn) g.66765039G>T Copied from the Exome Variant Server AR_000004 2/10563 0/6728 2/3835
1 c.72G>A r.(=) p.(=) g.66765060G>A Copied from the Exome Variant Server AR_000005 1/10563 1/6728 0/3835
1 c.119G>A r.(?) p.(Arg40Lys) g.66765107G>A Copied from the Exome Variant Server AR_000006 1/10563 1/6728 0/3835
1 c.134C>G r.(?) p.(Ala45Gly) g.66765122C>G Copied from the Exome Variant Server AR_000007 8/10563 0/6728 8/3835
1 c.161_163del r.(?) p.(Leu57del) g.66765149_66765151del Copied from the Exome Variant Server AR_000008 60/9889 38/6334 22/3555
1 c.171_206del r.(?) p.(Gln69_Gln80del) g.66765159_66765194del Copied from the Exome Variant Server AR_000009 14/4318 7/3033 7/1285
1 c.174_206del r.(?) p.(Gln70_Gln80del) g.66765162_66765194del Copied from the Exome Variant Server AR_000010 15/4318 9/3033 6/1285
1 c.180_206del r.(?) p.(Gln72_Gln80del) g.66765168_66765194del Copied from the Exome Variant Server AR_000011 24/4318 14/3033 10/1285
1 c.189_206del r.(?) p.(Gln75_Gln80del) g.66765177_66765194del Copied from the Exome Variant Server AR_000012 68/4318 25/3033 43/1285
1 c.198_206del r.(?) p.(Gln78_Gln80del) g.66765186_66765194del Copied from the Exome Variant Server AR_000013 223/4318 167/3033 56/1285
1 c.201_206del r.(?) p.(Gln79_Gln80del) g.66765189_66765194del Copied from the Exome Variant Server AR_000014 156/4318 133/3033 23/1285
1 c.240_254del r.(?) p.(Glu81_Arg85del) g.66765228_66765242del Copied from the Exome Variant Server AR_000015 135/10004 116/6372 19/3632
1 c.255_257del r.(?) p.(Gln91del) g.66765243_66765245del Copied from the Exome Variant Server AR_000016 379/10036 273/6381 106/3655
1 c.282T>A r.(?) p.(Asp94Glu) g.66765270T>A Copied from the Exome Variant Server AR_000017 1/10538 0/6714 1/3824
1 c.324G>C r.(=) p.(=) g.66765312G>C Copied from the Exome Variant Server AR_000018 39/10538 1/6716 38/3822
1 c.333T>C r.(=) p.(=) g.66765321T>C Copied from the Exome Variant Server AR_000019 1/10537 0/6713 1/3824
1 c.462C>T r.(=) p.(=) g.66765450C>T Copied from the Exome Variant Server AR_000020 1/10497 0/6691 1/3806
1 c.475G>A r.(?) p.(Ala159Thr) g.66765463G>A Copied from the Exome Variant Server AR_000022 1/10519 1/6700 0/3819
1 c.621C>G r.(?) p.(Ser207Arg) g.66765609C>G Copied from the Exome Variant Server AR_000024 1/10563 0/6728 1/3835
1 c.622A>G r.(?) p.(Ser208Gly) g.66765610A>G Copied from the Exome Variant Server AR_000026 1/10563 1/6728 0/3835
1 c.632C>G r.(?) p.(Ala211Gly) g.66765620C>G Copied from the Exome Variant Server AR_000028 1/10563 1/6728 0/3835
1 c.636G>A r.(=) p.(=) g.66765624G>A Copied from the Exome Variant Server AR_000030 17/10563 13/6728 4/3835
1 c.639G>A r.(=) p.(=) g.66765627G>A Copied from the Exome Variant Server AR_000021 3369/10563 1057/6728 2312/3835
1 c.814C>T r.(?) p.(Leu272Phe) g.66765802C>T Copied from the Exome Variant Server AR_000023 1/10563 1/6728 0/3835
1 c.859T>C r.(=) p.(=) g.66765847T>C Copied from the Exome Variant Server AR_000025 1/10563 1/6728 0/3835
1 c.957G>T r.(=) p.(=) g.66765945G>T Copied from the Exome Variant Server AR_000027 1/10563 1/6728 0/3835
1 c.980G>A r.(?) p.(Cys327Tyr) g.66765968G>A Copied from the Exome Variant Server AR_000029 1/10563 1/6728 0/3835
1 c.1014A>C r.(=) p.(=) g.66766002A>C Copied from the Exome Variant Server AR_000031 1/10563 1/6728 0/3835
1 c.1025C>A r.(?) p.(Pro342Gln) g.66766013C>A Copied from the Exome Variant Server AR_000032 1/10563 0/6728 1/3835
1 c.1029T>C r.(=) p.(=) g.66766017T>C Copied from the Exome Variant Server AR_000033 67/10562 0/6727 67/3835
1 c.1041C>G r.(=) p.(=) g.66766029C>G Copied from the Exome Variant Server AR_000034 1/10561 1/6728 0/3833
1 c.1043A>G r.(?) p.(Tyr348Cys) g.66766031A>G Copied from the Exome Variant Server AR_000035 1/10562 0/6728 1/3834
1 c.1063G>C r.(?) p.(Glu355Gln) g.66766051G>C Copied from the Exome Variant Server AR_000036 1/10556 1/6723 0/3833
1 c.1104A>G r.(=) p.(=) g.66766092A>G Copied from the Exome Variant Server AR_000037 2/10551 0/6718 2/3833
1 c.1139C>G r.(?) p.(Pro380Arg) g.66766127C>G Copied from the Exome Variant Server AR_000038 24/10453 0/6657 24/3796
1 c.1349_1351del r.(?) p.(Gly473del) g.66766337_66766339del Copied from the Exome Variant Server AR_000039 18/5084 9/3433 9/1651
1 c.1369_1386del r.(?) p.(Gly468_Gly473del) g.66766357_66766374del Copied from the Exome Variant Server AR_000040 33/435 30/357 3/78
1 c.1381del r.(?) p.(Gly461Alafs*18) g.66766369del Copied from the Exome Variant Server AR_000041 17/1947 17/1421 0/526
1 c.1447_1448insAA r.(?) p.(Tyr483*) g.66766435_66766436insAA Copied from the Exome Variant Server AR_000042 478/9307 315/5929 163/3378
1 c.1452_1453insC r.(?) p.(Arg485Profs*17) g.66766440_66766441insC Copied from the Exome Variant Server AR_000043 107/9630 64/6115 43/3515
1 c.1479G>A r.(=) p.(=) g.66766467G>A Copied from the Exome Variant Server AR_000044 3/10545 1/6715 2/3830
1 c.1536G>A r.(=) p.(=) g.66766524G>A Copied from the Exome Variant Server AR_000045 10/10563 9/6728 1/3835
1 c.1616+12C>T r.(=) p.(=) g.66766616C>T Copied from the Exome Variant Server AR_000046 4/10562 3/6727 1/3835
1 c.1616+22201G>A r.(=) p.(=) g.66788805G>A Copied from the Exome Variant Server AR_000047 1/9875 1/6503 0/3372
1 c.1616+22261G>A r.(=) p.(=) g.66788865G>A Copied from the Exome Variant Server AR_000048 1/9739 0/6459 1/3280
1 c.1617-51A>G r.(=) p.(=) g.66863047A>G Copied from the Exome Variant Server AR_000049 1/10563 1/6728 0/3835
1 c.1617-19G>T r.(=) p.(=) g.66863079G>T Copied from the Exome Variant Server AR_000051 3/10563 0/6728 3/3835
1 c.1644G>T r.(?) p.(Leu548Phe) g.66863125G>T Copied from the Exome Variant Server AR_000050 2/10563 2/6728 0/3835
1 c.1656T>C r.(=) p.(=) g.66863137T>C Copied from the Exome Variant Server AR_000052 1/10563 1/6728 0/3835
1 c.1675A>T r.(?) p.(Thr559Ser) g.66863156A>T Copied from the Exome Variant Server AR_000053 7/10563 0/6728 7/3835
1 c.1716T>C r.(=) p.(=) g.66863197T>C Copied from the Exome Variant Server AR_000054 1/10563 0/6728 1/3835
1 c.1723C>G r.(?) p.(Leu575Val) g.66863204C>G Copied from the Exome Variant Server AR_000055 1/10563 1/6728 0/3835
1 c.1743G>A r.(=) p.(=) g.66863224G>A Copied from the Exome Variant Server AR_000056 33/10563 0/6728 33/3835
1 c.1746C>T r.(=) p.(=) g.66863227C>T Copied from the Exome Variant Server AR_000057 3/10563 0/6728 3/3835
1 c.1769-35A>G r.(=) p.(=) g.66905817A>G Copied from the Exome Variant Server AR_000058 2/10563 0/6728 2/3835
1 c.1788C>T r.(=) p.(=) g.66905871C>T Copied from the Exome Variant Server AR_000059 46/10563 5/6728 41/3835
1 c.1792A>G r.(?) p.(Ser598Gly) g.66905875A>G Copied from the Exome Variant Server AR_000060 8/10563 8/6728 0/3835
1 c.1854G>A r.(=) p.(=) g.66905937G>A Copied from the Exome Variant Server AR_000061 19/10563 0/6728 19/3835
1 c.1885+4A>T r.spl? p.? g.66905972A>T Copied from the Exome Variant Server AR_000062 1/10563 1/6728 0/3835
1 c.1885+13T>C r.(=) p.(=) g.66905981T>C Copied from the Exome Variant Server AR_000063 3/10563 0/6728 3/3835
1 c.1885+24C>T r.(=) p.(=) g.66905992C>T Copied from the Exome Variant Server AR_000064 3/10563 3/6728 0/3835
1 c.1885+27C>T r.(=) p.(=) g.66905995C>T Copied from the Exome Variant Server AR_000066 1/10563 0/6728 1/3835
1 c.1885+32T>C r.(=) p.(=) g.66906000T>C Copied from the Exome Variant Server AR_000068 2/10563 0/6728 2/3835
1 c.1885+41C>G r.(=) p.(=) g.66906009C>G Copied from the Exome Variant Server AR_000070 1/10562 1/6727 0/3835
1 c.1886-4A>G r.spl? p.? g.66931240A>G Copied from the Exome Variant Server AR_000072 3/10544 0/6717 3/3827
1 c.1937C>A r.(?) p.(Ala646Asp) g.66931295C>A Copied from the Exome Variant Server AR_000074 17/10563 17/6728 0/3835
1 c.1967C>G r.(?) p.(Thr656Arg) g.66931325C>G Copied from the Exome Variant Server AR_000076 1/10563 1/6728 0/3835
1 c.1983A>G r.(=) p.(=) g.66931341A>G Copied from the Exome Variant Server AR_000078 1/10563 1/6728 0/3835
1 c.2017A>G r.(?) p.(Ile673Val) g.66931375A>G Copied from the Exome Variant Server AR_000080 4/10563 0/6728 4/3835
1 c.2083C>T r.(?) p.(Pro695Ser) g.66931441C>T Copied from the Exome Variant Server AR_000082 1/10563 1/6728 0/3835
1 c.2106C>G r.(=) p.(=) g.66931464C>G Copied from the Exome Variant Server AR_000084 1/10563 0/6728 1/3835
1 c.2173+36G>C r.(=) p.(=) g.66931567G>C Copied from the Exome Variant Server AR_000086 1/10563 1/6728 0/3835
1 c.2174-44G>A r.(=) p.(=) g.66937276G>A Copied from the Exome Variant Server AR_000065 1/10563 0/6728 1/3835
1 c.2180G>T r.(?) p.(Arg727Leu) g.66937326G>T Copied from the Exome Variant Server AR_000067 1/10563 1/6728 0/3835
1 c.2270A>G r.(?) p.(Asn757Ser) g.66937416A>G Copied from the Exome Variant Server AR_000069 1/10563 0/6728 1/3835
1 c.2295C>T r.(=) p.(=) g.66937441C>T Copied from the Exome Variant Server AR_000071 1/10563 1/6728 0/3835
1 c.2319-9C>T r.(=) p.(=) g.66941666C>T Copied from the Exome Variant Server AR_000073 1/10563 1/6728 0/3835
1 c.2395C>G r.(?) p.(Gln799Glu) g.66941751C>G Copied from the Exome Variant Server AR_000075 15/10563 15/6728 0/3835
1 c.2403C>T r.(=) p.(=) g.66941759C>T Copied from the Exome Variant Server AR_000077 5/10563 4/6728 1/3835
1 c.2449+27C>T r.(=) p.(=) g.66941832C>T Copied from the Exome Variant Server AR_000079 1/10563 0/6728 1/3835
1 c.2450-44G>A r.(=) p.(=) g.66942625G>A Copied from the Exome Variant Server AR_000081 199/10563 185/6728 14/3835
1 c.2450-29C>A r.(=) p.(=) g.66942640C>A Copied from the Exome Variant Server AR_000083 1/10563 0/6728 1/3835
1 c.2481C>A r.(?) p.(Phe827Leu) g.66942700C>A Copied from the Exome Variant Server AR_000085 1/10563 1/6728 0/3835
1 c.2490A>G r.(=) p.(=) g.66942709A>G Copied from the Exome Variant Server AR_000087 1/10563 1/6728 0/3835
1 c.2517C>T r.(=) p.(=) g.66942736C>T Copied from the Exome Variant Server AR_000088 5/10563 5/6728 0/3835
1 c.2524A>G r.(?) p.(Ile842Val) g.66942743A>G Copied from the Exome Variant Server AR_000089 1/10563 0/6728 1/3835
1 c.2556C>T r.(=) p.(=) g.66942775C>T Copied from the Exome Variant Server AR_000090 1/10563 0/6728 1/3835
1 c.2598C>T r.(=) p.(=) g.66942817C>T Copied from the Exome Variant Server AR_000091 1/10563 1/6728 0/3835
1 c.2607+37C>A r.(=) p.(=) g.66942863C>A Copied from the Exome Variant Server AR_000092 1/10563 1/6728 0/3835
1 c.2608-8C>T r.(=) p.(=) g.66943520C>T Copied from the Exome Variant Server AR_000093 1/10563 0/6728 1/3835
1 c.2612C>T r.(?) p.(Ala871Val) g.66943532C>T Copied from the Exome Variant Server AR_000094 1/10563 0/6728 1/3835
1 c.2679G>A r.(=) p.(=) g.66943599G>A Copied from the Exome Variant Server AR_000095 2/10563 2/6728 0/3835
1 c.2760G>A r.(=) p.(=) g.66943680G>A Copied from the Exome Variant Server AR_000096 2/10563 0/6728 2/3835
1 c.*12del r.(=) p.(=) g.66943695del Copied from the Exome Variant Server AR_000097 1/10205 1/6484 0/3721
1 c.*16A>G r.(=) p.(=) g.66943699A>G Copied from the Exome Variant Server AR_000098 4/10563 0/6728 4/3835
1 c.*25C>T r.(=) p.(=) g.66943708C>T Copied from the Exome Variant Server AR_000099 1/10563 1/6728 0/3835
1 c.*28C>G r.(=) p.(=) g.66943711C>G Copied from the Exome Variant Server AR_000100 1/10563 1/6728 0/3835
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