All transcript variants in gene IL1RAPL1

Information The variants shown are described using the NM_014271.3 transcript reference sequence.

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

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-20C>T r.(=) p.(=) g.28807441C>T Copied from the Exome Variant Server IL1RAPL1_000001 9/10561 9/6728 0/3833
?/? c.-19G>A r.(=) p.(=) g.28807442G>A Copied from the Exome Variant Server IL1RAPL1_000002 6737/10561 3310/6728 3427/3833
?/? c.10C>T r.(?) p.(Pro4Ser) g.28807470C>T Copied from the Exome Variant Server IL1RAPL1_000003 1/10561 1/6728 0/3833
?/? c.12G>A r.(=) p.(=) g.28807472G>A Copied from the Exome Variant Server IL1RAPL1_000004 10/10561 10/6728 0/3833
?/? c.36C>T r.(=) p.(=) g.28807496C>T Copied from the Exome Variant Server IL1RAPL1_000005 11/10561 9/6728 2/3833
?/? c.82G>A r.(?) p.(Ala28Thr) g.28807542G>A Copied from the Exome Variant Server IL1RAPL1_000006 1/10561 1/6728 0/3833
?/? c.82+27G>A r.(=) p.(=) g.28807569G>A Copied from the Exome Variant Server IL1RAPL1_000007 1/10559 1/6728 0/3831
?/? c.83-6C>T r.(=) p.(=) g.29301049C>T Copied from the Exome Variant Server IL1RAPL1_000008 17/10561 0/6728 17/3833
?/? c.83-5G>A r.spl? p.? g.29301050G>A Copied from the Exome Variant Server IL1RAPL1_000009 1/10561 1/6728 0/3833
?/? c.123T>C r.(=) p.(=) g.29301095T>C Copied from the Exome Variant Server IL1RAPL1_000010 1/10561 1/6728 0/3833
?/? c.149G>A r.(?) p.(Arg50Gln) g.29301121G>A Copied from the Exome Variant Server IL1RAPL1_000011 2/10561 0/6728 2/3833
?/? c.233A>G r.(?) p.(Lys78Arg) g.29301205A>G Copied from the Exome Variant Server IL1RAPL1_000012 1/10561 1/6728 0/3833
?/? c.537C>A r.(=) p.(=) g.29414549C>A Copied from the Exome Variant Server IL1RAPL1_000013 2/10560 0/6727 2/3833
?/? c.549+8C>T r.(=) p.(=) g.29414569C>T Copied from the Exome Variant Server IL1RAPL1_000014 3/10560 0/6727 3/3833
?/? c.549+11C>T r.(=) p.(=) g.29414572C>T Copied from the Exome Variant Server IL1RAPL1_000015 1/10560 1/6727 0/3833
?/? c.549+30T>C r.(=) p.(=) g.29414591T>C Copied from the Exome Variant Server IL1RAPL1_000016 1/10559 1/6726 0/3833
?/? c.549+48C>T r.(=) p.(=) g.29414609C>T Copied from the Exome Variant Server IL1RAPL1_000017 1/10555 0/6724 1/3831
?/? c.549+50T>C r.(=) p.(=) g.29414611T>C Copied from the Exome Variant Server IL1RAPL1_000018 15/10552 1/6724 14/3828
?/? c.550-32T>A r.(=) p.(=) g.29417240T>A Copied from the Exome Variant Server IL1RAPL1_000019 1/10536 0/6711 1/3825
?/? c.550-4A>G r.spl? p.? g.29417268A>G Copied from the Exome Variant Server IL1RAPL1_000020 1/10556 1/6725 0/3831
?/? c.565A>G r.(?) p.(Thr189Ala) g.29417287A>G Copied from the Exome Variant Server IL1RAPL1_000021 1/10557 0/6724 1/3833
?/? c.641A>T r.(?) p.(Tyr214Phe) g.29417363A>T Copied from the Exome Variant Server IL1RAPL1_000022 1/10552 0/6719 1/3833
?/? c.704-36A>G r.(=) p.(=) g.29686511A>G Copied from the Exome Variant Server IL1RAPL1_000023 1/10560 1/6727 0/3833
?/? c.704-17_704-15del r.(=) p.(=) g.29686530_29686532del Copied from the Exome Variant Server IL1RAPL1_000024 31/10204 24/6483 7/3721
?/? c.747A>G r.(=) p.(=) g.29686590A>G Copied from the Exome Variant Server IL1RAPL1_000025 1/10561 0/6728 1/3833
?/? c.759A>T r.(=) p.(=) g.29686602A>T Copied from the Exome Variant Server IL1RAPL1_000026 1/10561 1/6728 0/3833
?/? c.764A>G r.(?) p.(Gln255Arg) g.29686607A>G Copied from the Exome Variant Server IL1RAPL1_000027 1/10561 1/6728 0/3833
?/? c.778+38C>T r.(=) p.(=) g.29686659C>T Copied from the Exome Variant Server IL1RAPL1_000028 106/10557 31/6726 75/3831
?/? c.778+39G>A r.(=) p.(=) g.29686660G>A Copied from the Exome Variant Server IL1RAPL1_000029 221/10557 203/6726 18/3831
?/? c.784T>G r.(?) p.(Ser262Ala) g.29935586T>G Copied from the Exome Variant Server IL1RAPL1_000030 6/10561 6/6728 0/3833
?/? c.911+4_911+5insT r.spl? p.? g.29935717_29935718insT Copied from the Exome Variant Server IL1RAPL1_000031 5/10200 1/6482 4/3718
?/? c.912-44G>A r.(=) p.(=) g.29938022G>A Copied from the Exome Variant Server IL1RAPL1_000032 3/10561 0/6728 3/3833
?/? c.1038C>T r.(=) p.(=) g.29938192C>T Copied from the Exome Variant Server IL1RAPL1_000033 1/10561 1/6728 0/3833
?/? c.1057+24G>A r.(=) p.(=) g.29938235G>A Copied from the Exome Variant Server IL1RAPL1_000034 1/10561 0/6728 1/3833
?/? c.1057+41A>G r.(=) p.(=) g.29938252A>G Copied from the Exome Variant Server IL1RAPL1_000035 1/10561 0/6728 1/3833
?/? c.1057+50_1057+51insA r.(=) p.(=) g.29938261_29938262insA Copied from the Exome Variant Server IL1RAPL1_000036 3/10196 2/6475 1/3721
?/? c.1058-34_1058-30del r.(=) p.(=) g.29959734_29959738del Copied from the Exome Variant Server IL1RAPL1_000037 2/10205 2/6484 0/3721
?/? c.1058-31A>G r.(=) p.(=) g.29959737A>G Copied from the Exome Variant Server IL1RAPL1_000038 2/10561 1/6728 1/3833
?/? c.1136A>G r.(?) p.(Lys379Arg) g.29959846A>G Copied from the Exome Variant Server IL1RAPL1_000039 7/10561 6/6728 1/3833
?/? c.1139G>A r.(?) p.(Cys380Tyr) g.29959849G>A Copied from the Exome Variant Server IL1RAPL1_000040 1/10561 1/6728 0/3833
?/? c.1191G>A r.(=) p.(=) g.29959901G>A Copied from the Exome Variant Server IL1RAPL1_000041 87/10561 1/6728 86/3833
?/? c.1201+48_1201+50del r.(=) p.(=) g.29959959_29959961del Copied from the Exome Variant Server IL1RAPL1_000042 1/10204 1/6484 0/3720
?/? c.1202-26G>A r.(=) p.(=) g.29972613G>A Copied from the Exome Variant Server IL1RAPL1_000043 1/10559 0/6728 1/3831
?/? c.1202-12_1202-11insT r.(=) p.(=) g.29972627_29972628insT Copied from the Exome Variant Server IL1RAPL1_000044 1/10205 1/6484 0/3721
?/? c.1230A>G r.(=) p.(=) g.29972667A>G Copied from the Exome Variant Server IL1RAPL1_000045 1/10561 0/6728 1/3833
?/? c.1305T>C r.(=) p.(=) g.29972742T>C Copied from the Exome Variant Server IL1RAPL1_000046 1/10561 0/6728 1/3833
?/? c.1320G>A r.(=) p.(=) g.29972757G>A Copied from the Exome Variant Server IL1RAPL1_000047 1/10561 0/6728 1/3833
?/? c.1338G>A r.(=) p.(=) g.29972775G>A Copied from the Exome Variant Server IL1RAPL1_000048 2/10561 0/6728 2/3833
?/? c.1372+27G>A r.(=) p.(=) g.29972836G>A Copied from the Exome Variant Server IL1RAPL1_000049 2/10560 0/6727 2/3833
?/? c.1373-39C>A r.(=) p.(=) g.29973180C>A Copied from the Exome Variant Server IL1RAPL1_000050 39/10554 37/6722 2/3832
?/? c.1456G>A r.(?) p.(Gly486Ser) g.29973302G>A Copied from the Exome Variant Server IL1RAPL1_000051 1/10561 1/6728 0/3833
?/? c.1489C>A r.(=) p.(=) g.29973335C>A Copied from the Exome Variant Server IL1RAPL1_000052 2/10561 2/6728 0/3833
?/? c.1587C>T r.(=) p.(=) g.29973433C>T Copied from the Exome Variant Server IL1RAPL1_000053 1/10561 1/6728 0/3833
?/? c.1605G>T r.(=) p.(=) g.29973451G>T Copied from the Exome Variant Server IL1RAPL1_000054 12/10561 10/6728 2/3833
?/? c.1644C>T r.(=) p.(=) g.29973490C>T Copied from the Exome Variant Server IL1RAPL1_000055 1/10561 0/6728 1/3833
?/? c.1685A>G r.(?) p.(Lys562Arg) g.29973531A>G Copied from the Exome Variant Server IL1RAPL1_000056 1/10561 1/6728 0/3833
?/? c.1692A>C r.(=) p.(=) g.29973538A>C Copied from the Exome Variant Server IL1RAPL1_000057 1/10561 0/6728 1/3833
?/? c.1779C>T r.(=) p.(=) g.29973625C>T Copied from the Exome Variant Server IL1RAPL1_000058 1/10561 0/6728 1/3833
?/? c.1862A>G r.(?) p.(Gln621Arg) g.29973708A>G Copied from the Exome Variant Server IL1RAPL1_000059 1/10560 1/6727 0/3833
?/? c.1959T>C r.(=) p.(=) g.29973805T>C Copied from the Exome Variant Server IL1RAPL1_000060 22/10561 0/6728 22/3833
?/? c.2009A>C r.(?) p.(Gln670Pro) g.29973855A>C Copied from the Exome Variant Server IL1RAPL1_000061 1/10561 1/6728 0/3833
?/? c.2049G>A r.(=) p.(=) g.29973895G>A Copied from the Exome Variant Server IL1RAPL1_000062 21/10561 0/6728 21/3833
?/? c.2067C>G r.(=) p.(=) g.29973913C>G Copied from the Exome Variant Server IL1RAPL1_000063 7/10561 5/6728 2/3833
?/? c.2082G>A r.(=) p.(=) g.29973928G>A Copied from the Exome Variant Server IL1RAPL1_000064 1/10561 1/6728 0/3833
?/? c.*31A>T r.(=) p.(=) g.29973968A>T Copied from the Exome Variant Server IL1RAPL1_000065 4/10539 4/6716 0/3823
?/? c.*48C>T r.(=) p.(=) g.29973985C>T Copied from the Exome Variant Server IL1RAPL1_000066 1/10508 0/6692 1/3816
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