All transcript variants in gene RS1

Information The variants shown are described using the NM_000330.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-10C>T r.(=) p.(=) g.18690198G>A Copied from the Exome Variant Server RS1_000070 1/10563 1/6728 0/3835
?/? c.-9G>A r.(=) p.(=) g.18690197C>T Copied from the Exome Variant Server RS1_000069 2/10563 0/6728 2/3835
?/? c.8G>A r.(?) p.(Arg3His) g.18690181C>T Copied from the Exome Variant Server RS1_000068 1/10563 1/6728 0/3835
?/? c.52+33A>C r.(=) p.(=) g.18690104T>G Copied from the Exome Variant Server RS1_000067 1/10563 1/6728 0/3835
?/? c.52+60C>T r.(=) p.(=) g.18690077G>A Copied from the Exome Variant Server RS1_000066 6/3600 0/2391 6/1209
?/? c.53-84del r.(=) p.(=) g.18675869del Copied from the Exome Variant Server RS1_000065 141/10203 2/6482 139/3721
?/? c.53-34_53-31del r.(=) p.(=) g.18675816_18675819del Copied from the Exome Variant Server RS1_000064 1/10205 1/6484 0/3721
?/? c.76G>A r.(?) p.(Glu26Lys) g.18675762C>T Copied from the Exome Variant Server RS1_000063 34/10563 0/6728 34/3835
?/? c.78+6T>A r.(=) p.(=) g.18675754A>T Copied from the Exome Variant Server RS1_000062 1/10563 0/6728 1/3835
?/? c.78+85del r.(=) p.(=) g.18675675del Copied from the Exome Variant Server RS1_000061 2/10203 2/6483 0/3720
?/? c.88G>A r.(?) p.(Glu30Lys) g.18674869C>T Copied from the Exome Variant Server RS1_000060 2/10563 1/6728 1/3835
?/? c.121G>A r.(?) p.(Asp41Asn) g.18674836C>T Copied from the Exome Variant Server RS1_000059 1/10563 1/6728 0/3835
?/? c.150G>T r.(?) p.(Trp50Cys) g.18674807C>A Copied from the Exome Variant Server RS1_000058 2/10563 2/6728 0/3835
?/? c.184+9C>T r.(=) p.(=) g.18674764G>A Copied from the Exome Variant Server RS1_000057 2/10563 0/6728 2/3835
?/? c.184+35T>C r.(=) p.(=) g.18674738A>G Copied from the Exome Variant Server RS1_000056 195/10563 8/6728 187/3835
?/? c.184+46C>A r.(=) p.(=) g.18674727G>T Copied from the Exome Variant Server RS1_000055 1/10563 1/6728 0/3835
?/? c.184+3118C>T r.(=) p.(=) g.18671655G>A Copied from the Exome Variant Server RS1_000054 29/10563 29/6728 0/3835
?/? c.184+3159G>C r.(?) p.(Gln1015Glu) g.18671614C>G Copied from the Exome Variant Server RS1_000053 1/10563 0/6728 1/3835
?/? c.184+3189C>T r.(?) p.(Glu1005Lys) g.18671584G>A Copied from the Exome Variant Server RS1_000052 1/10563 1/6728 0/3835
?/? c.184+3199G>A r.(=) p.(=) g.18671574C>T Copied from the Exome Variant Server RS1_000051 31/10563 31/6728 0/3835
?/? c.184+3207C>T r.(?) p.(Val999Met) g.18671566G>A Copied from the Exome Variant Server RS1_000050 410/10563 2/6728 408/3835
?/? c.184+3208G>A r.(=) p.(=) g.18671565C>T Copied from the Exome Variant Server RS1_000049 27/10563 0/6728 27/3835
?/? c.184+3243C>T r.(=) p.(=) g.18671530G>A Copied from the Exome Variant Server RS1_000048 61/10563 1/6728 60/3835
?/? c.184+3262C>T r.(=) p.(=) g.18671511G>A Copied from the Exome Variant Server RS1_000047 1/10562 0/6728 1/3834
?/? c.184+3268C>T r.(=) p.(=) g.18671505G>A Copied from the Exome Variant Server RS1_000046 1/10561 1/6728 0/3833
?/? c.185-3308C>T r.(=) p.(=) g.18668760G>A Copied from the Exome Variant Server RS1_000045 3/10563 3/6728 0/3835
?/? c.185-3307G>A r.(=) p.(=) g.18668759C>T Copied from the Exome Variant Server RS1_000043 1/10563 1/6728 0/3835
?/? c.185-3221G>C r.(?) p.(Arg981Gly) g.18668673C>G Copied from the Exome Variant Server RS1_000041 1/10563 1/6728 0/3835
?/? c.185-3213A>C r.(?) p.(Leu978Arg) g.18668665T>G Copied from the Exome Variant Server RS1_000044 2/10563 2/6728 0/3835
?/? c.185-3208C>T r.(=) p.(=) g.18668660G>A Copied from the Exome Variant Server RS1_000042 1/10563 1/6728 0/3835
?/? c.185-3156G>C r.(?) p.(Ser959Cys) g.18668608C>G Copied from the Exome Variant Server RS1_000040 1/10563 0/6728 1/3835
?/? c.185-3121C>T r.(=) p.(=) g.18668573G>A Copied from the Exome Variant Server RS1_000039 1/10563 1/6728 0/3835
?/? c.185-3036C>T r.(=) p.(=) g.18668488G>A Copied from the Exome Variant Server RS1_000038 3/10563 0/6728 3/3835
?/? c.185-3035G>A r.(=) p.(=) g.18668487C>T Copied from the Exome Variant Server RS1_000037 1/10563 1/6728 0/3835
?/? c.185-3027G>A r.(=) p.(=) g.18668479C>T Copied from the Exome Variant Server RS1_000036 2/10563 0/6728 2/3835
?/? c.185-34T>G r.(=) p.(=) g.18665486A>C Copied from the Exome Variant Server RS1_000035 1/10563 1/6728 0/3835
?/? c.185-12T>C r.(=) p.(=) g.18665464A>G Copied from the Exome Variant Server RS1_000034 1/10563 0/6728 1/3835
?/? c.258G>A r.(=) p.(=) g.18665379C>T Copied from the Exome Variant Server RS1_000033 71/10563 2/6728 69/3835
?/? c.264G>C r.(?) p.(Gln88His) g.18665373C>G Copied from the Exome Variant Server RS1_000032 7/10563 6/6728 1/3835
?/? c.272G>C r.(?) p.(Gly91Ala) g.18665365C>G Copied from the Exome Variant Server RS1_000031 1/10563 0/6728 1/3835
?/? c.285G>A r.(=) p.(=) g.18665352C>T Copied from the Exome Variant Server RS1_000030 2/10563 2/6728 0/3835
?/? c.295A>G r.(?) p.(Asn99Asp) g.18665342T>C Copied from the Exome Variant Server RS1_000029 261/10563 1/6728 260/3835
?/? c.320G>T r.(?) p.(Gly107Val) g.18665317C>A Copied from the Exome Variant Server RS1_000028 1/10563 1/6728 0/3835
?/? c.326+14G>A r.(=) p.(=) g.18665297C>T Copied from the Exome Variant Server RS1_000027 1/10563 0/6728 1/3835
?/? c.326+21T>A r.(=) p.(=) g.18665290A>T Copied from the Exome Variant Server RS1_000026 1/10563 0/6728 1/3835
?/? c.326+46_326+47insA r.(=) p.(=) g.18665264_18665265insT Copied from the Exome Variant Server RS1_000025 29/10205 17/6484 12/3721
?/? c.326+1061C>T r.(=) p.(=) g.18664250G>A Copied from the Exome Variant Server RS1_000024 1/10563 1/6728 0/3835
?/? c.326+1062G>A r.(=) p.(=) g.18664249C>T Copied from the Exome Variant Server RS1_000023 6/10563 0/6728 6/3835
?/? c.326+1082T>C r.(=) p.(=) g.18664229A>G Copied from the Exome Variant Server RS1_000022 2/10563 2/6728 0/3835
?/? c.326+1114C>T r.(=) p.(=) g.18664197G>A Copied from the Exome Variant Server RS1_000021 1/10563 1/6728 0/3835
?/? c.326+1154T>C r.(?) p.(His915Arg) g.18664157A>G Copied from the Exome Variant Server RS1_000020 1/10563 0/6728 1/3835
?/? c.326+1182C>G r.(?) p.(Gly906Arg) g.18664129G>C Copied from the Exome Variant Server RS1_000019 1/10563 1/6728 0/3835
?/? c.326+1183G>A r.(=) p.(=) g.18664128C>T Copied from the Exome Variant Server RS1_000018 1/10563 0/6728 1/3835
?/? c.326+1190T>C r.(=) p.(=) g.18664121A>G Copied from the Exome Variant Server RS1_000017 1/10563 1/6728 0/3835
?/? c.326+1221C>A r.(=) p.(=) g.18664090G>T Copied from the Exome Variant Server RS1_000016 256/10563 2/6728 254/3835
?/? c.327-24G>A r.(=) p.(=) g.18662769C>T Copied from the Exome Variant Server RS1_000015 1/10563 1/6728 0/3835
?/? c.327-6C>T r.(=) p.(=) g.18662751G>A Copied from the Exome Variant Server RS1_000014 1/10563 1/6728 0/3835
?/? c.330T>C r.(=) p.(=) g.18662742A>G Copied from the Exome Variant Server RS1_000013 858/10563 36/6728 822/3835
?/? c.522+34C>T r.(=) p.(=) g.18662516G>A Copied from the Exome Variant Server RS1_000012 62/10563 0/6728 62/3835
?/? c.523-37C>A r.(=) p.(=) g.18660313G>T Copied from the Exome Variant Server RS1_000011 6/10563 0/6728 6/3835
?/? c.523-18T>C r.(=) p.(=) g.18660294A>G Copied from the Exome Variant Server RS1_000010 3/10563 0/6728 3/3835
?/? c.523-10A>C r.(=) p.(=) g.18660286T>G Copied from the Exome Variant Server RS1_000009 88/10563 0/6728 88/3835
?/? c.548C>T r.(?) p.(Thr183Ile) g.18660251G>A Copied from the Exome Variant Server RS1_000008 4/10563 3/6728 1/3835
?/? c.565C>T r.(=) p.(=) g.18660234G>A Copied from the Exome Variant Server RS1_000007 1/10563 0/6728 1/3835
?/? c.571C>T r.(?) p.(Arg191Trp) g.18660228G>A Copied from the Exome Variant Server RS1_000006 1/10563 1/6728 0/3835
?/? c.597C>A r.(=) p.(=) g.18660202G>T Copied from the Exome Variant Server RS1_000005 1/10563 1/6728 0/3835
?/? c.*1T>C r.(=) p.(=) g.18660123A>G Copied from the Exome Variant Server RS1_000004 1/10563 0/6728 1/3835
?/? c.*13C>T r.(=) p.(=) g.18660111G>A Copied from the Exome Variant Server RS1_000003 8/10559 0/6726 8/3833
?/? c.*25C>T r.(=) p.(=) g.18660099G>A Copied from the Exome Variant Server RS1_000002 1/10527 0/6712 1/3815
?/? c.*51C>T r.(=) p.(=) g.18660073G>A Copied from the Exome Variant Server RS1_000001 1/10499 1/6698 0/3801
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