All transcript variants in gene SHC2

Information The variants shown are described using the NM_012435.2 transcript reference sequence.

167 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.468+13del r.(=) p.(=) g.460516del Copied from the Exome Variant Server SHC2_000167 147/3638 20/2648 127/990
?/? c.468+14del r.(=) p.(=) g.460515del Copied from the Exome Variant Server SHC2_000166 374/3856 189/2808 185/1048
?/? c.468+22del r.(=) p.(=) g.460507del Copied from the Exome Variant Server SHC2_000165 92/2930 57/2256 35/674
?/? c.468+22dup r.(=) p.(=) g.460507dup Copied from the Exome Variant Server SHC2_000164 63/2930 35/2256 28/674
?/? c.469-54G>A r.(=) p.(=) g.440986C>T Copied from the Exome Variant Server SHC2_000163 1/4566 1/3182 0/1384
?/? c.469-41G>A r.(=) p.(=) g.440973C>T Copied from the Exome Variant Server SHC2_000162 1/12742 1/8458 0/4284
?/? c.469-33C>T r.(=) p.(=) g.440965G>A Copied from the Exome Variant Server SHC2_000161 1/12752 0/8464 1/4288
?/? c.469-7C>T r.(=) p.(=) g.440939G>A Copied from the Exome Variant Server SHC2_000160 1/12798 1/8484 0/4314
?/? c.469-3C>T r.spl? p.? g.440935G>A Copied from the Exome Variant Server SHC2_000159 1/12800 1/8486 0/4314
?/? c.471C>T r.(=) p.(=) g.440930G>A Copied from the Exome Variant Server SHC2_000158 2/12804 2/8484 0/4320
?/? c.483C>T r.(=) p.(=) g.440918G>A Copied from the Exome Variant Server SHC2_000157 50/12808 38/8492 12/4316
?/? c.484G>A r.(?) p.(Glu162Lys) g.440917C>T Copied from the Exome Variant Server SHC2_000156 2/12812 0/8500 2/4312
?/? c.487G>A r.(?) p.(Val163Ile) g.440914C>T Copied from the Exome Variant Server SHC2_000155 1/12808 0/8500 1/4308
?/? c.493C>T r.(?) p.(Arg165Cys) g.440908G>A Copied from the Exome Variant Server SHC2_000154 1/12794 1/8496 0/4298
?/? c.494G>A r.(?) p.(Arg165His) g.440907C>T Copied from the Exome Variant Server SHC2_000153 2/12780 2/8490 0/4290
?/? c.519C>T r.(=) p.(=) g.440882G>A Copied from the Exome Variant Server SHC2_000152 49/12728 38/8484 11/4244
?/? c.521C>T r.(?) p.(Thr174Met) g.440880G>A Copied from the Exome Variant Server SHC2_000151 3/12722 0/8484 3/4238
?/? c.523C>T r.(?) p.(Arg175Cys) g.440878G>A Copied from the Exome Variant Server SHC2_000150 1/12730 0/8484 1/4246
?/? c.527C>T r.(?) p.(Thr176Met) g.440874G>A Copied from the Exome Variant Server SHC2_000149 3/12722 3/8484 0/4238
?/? c.528G>A r.(=) p.(=) g.440873C>T Copied from the Exome Variant Server SHC2_000148 1/12706 1/8484 0/4222
?/? c.539+16T>C r.(=) p.(=) g.440846A>G Copied from the Exome Variant Server SHC2_000147 65/12676 0/8456 65/4220
?/? c.539+25C>T r.(=) p.(=) g.440837G>A Copied from the Exome Variant Server SHC2_000146 7/12640 6/8438 1/4202
?/? c.539+28G>A r.(=) p.(=) g.440834C>T Copied from the Exome Variant Server SHC2_000145 2/12642 2/8432 0/4210
?/? c.539+29T>C r.(=) p.(=) g.440833A>G Copied from the Exome Variant Server SHC2_000144 18/12642 0/8430 18/4212
?/? c.539+42C>T r.(=) p.(=) g.440820G>A Copied from the Exome Variant Server SHC2_000143 1/12654 1/8436 0/4218
?/? c.539+45A>G r.(=) p.(=) g.440817T>C Copied from the Exome Variant Server SHC2_000142 1787/12648 151/8432 1636/4216
?/? c.540-29C>A r.(=) p.(=) g.439059G>T Copied from the Exome Variant Server SHC2_000141 1/11656 1/8068 0/3588
?/? c.540-25C>T r.(=) p.(=) g.439055G>A Copied from the Exome Variant Server SHC2_000140 3565/11684 3289/8082 276/3602
?/? c.567C>T r.(=) p.(=) g.439003G>A Copied from the Exome Variant Server SHC2_000139 3/11862 0/8146 3/3716
?/? c.576C>T r.(=) p.(=) g.438994G>A Copied from the Exome Variant Server SHC2_000138 2/11874 2/8160 0/3714
?/? c.600+39C>T r.(=) p.(=) g.438931G>A Copied from the Exome Variant Server SHC2_000137 10/11796 9/8114 1/3682
?/? c.600+54G>A r.(=) p.(=) g.438916C>T Copied from the Exome Variant Server SHC2_000136 59/4562 0/3178 59/1384
?/? c.600+55G>A r.(=) p.(=) g.438915C>T Copied from the Exome Variant Server SHC2_000135 292/4562 178/3178 114/1384
?/? c.600+59G>A r.(=) p.(=) g.438911C>T Copied from the Exome Variant Server SHC2_000134 579/4562 412/3178 167/1384
?/? c.600+63C>T r.(=) p.(=) g.438907G>A Copied from the Exome Variant Server SHC2_000133 30/4562 26/3178 4/1384
?/? c.601-31C>T r.(=) p.(=) g.438868G>A Copied from the Exome Variant Server SHC2_000132 1572/11766 1310/8038 262/3728
?/? c.601-30C>T r.(=) p.(=) g.438867G>A Copied from the Exome Variant Server SHC2_000131 1/11782 1/8050 0/3732
?/? c.601-14C>T r.(=) p.(=) g.438851G>A Copied from the Exome Variant Server SHC2_000130 1/12084 0/8168 1/3916
?/? c.605C>T r.(?) p.(Pro202Leu) g.438833G>A Copied from the Exome Variant Server SHC2_000129 1/12244 0/8236 1/4008
?/? c.608A>G r.(?) p.(Asn203Ser) g.438830T>C Copied from the Exome Variant Server SHC2_000128 79/12284 1/8258 78/4026
?/? c.625G>A r.(?) p.(Val209Ile) g.438813C>T Copied from the Exome Variant Server SHC2_000127 3/12518 1/8358 2/4160
?/? c.654C>T r.(=) p.(=) g.438784G>A Copied from the Exome Variant Server SHC2_000126 1/12626 1/8402 0/4224
?/? c.655G>A r.(?) p.(Gly219Ser) g.438783C>T Copied from the Exome Variant Server SHC2_000125 2/12638 2/8408 0/4230
?/? c.687T>C r.(=) p.(=) g.438751A>G Copied from the Exome Variant Server SHC2_000124 4/12598 4/8390 0/4208
?/? c.714G>A r.(=) p.(=) g.438724C>T Copied from the Exome Variant Server SHC2_000123 2/12478 2/8332 0/4146
?/? c.720+17C>T r.(=) p.(=) g.438701G>A Copied from the Exome Variant Server SHC2_000122 19/12132 0/8144 19/3988
?/? c.720+41A>G r.(=) p.(=) g.438677T>C Copied from the Exome Variant Server SHC2_000121 2/11408 1/7784 1/3624
?/? c.721-59C>T r.(=) p.(=) g.436742G>A Copied from the Exome Variant Server SHC2_000120 17/4566 0/3182 17/1384
?/? c.721-58G>A r.(=) p.(=) g.436741C>T Copied from the Exome Variant Server SHC2_000119 75/4566 1/3182 74/1384
?/? c.721-44C>T r.(=) p.(=) g.436727G>A Copied from the Exome Variant Server SHC2_000118 65/12382 1/8324 64/4058
?/? c.721-38G>A r.(=) p.(=) g.436721C>T Copied from the Exome Variant Server SHC2_000117 1/12454 1/8348 0/4106
?/? c.721-7G>A r.(=) p.(=) g.436690C>T Copied from the Exome Variant Server SHC2_000116 249/12720 74/8462 175/4258
?/? c.724A>C r.(?) p.(Ile242Leu) g.436680T>G Copied from the Exome Variant Server SHC2_000115 1/12776 1/8488 0/4288
?/? c.727G>A r.(?) p.(Ala243Thr) g.436677C>T Copied from the Exome Variant Server SHC2_000114 2/12770 2/8486 0/4284
?/? c.756C>T r.(=) p.(=) g.436648G>A Copied from the Exome Variant Server SHC2_000113 1/12798 0/8504 1/4294
?/? c.765C>T r.(=) p.(=) g.436639G>A Copied from the Exome Variant Server SHC2_000112 1/12776 0/8488 1/4288
?/? c.774G>A r.(=) p.(=) g.436630C>T Copied from the Exome Variant Server SHC2_000111 19/12772 2/8486 17/4286
?/? c.774+37C>T r.(=) p.(=) g.436593G>A Copied from the Exome Variant Server SHC2_000110 1/12648 1/8406 0/4242
?/? c.774+42C>A r.(=) p.(=) g.436588G>T Copied from the Exome Variant Server SHC2_000109 1/12622 0/8398 1/4224
?/? c.774+43C>G r.(=) p.(=) g.436587G>C Copied from the Exome Variant Server SHC2_000108 1/12618 1/8400 0/4218
?/? c.774+47C>T r.(=) p.(=) g.436583G>A Copied from the Exome Variant Server SHC2_000107 5/12602 0/8390 5/4212
?/? c.774+52G>A r.(=) p.(=) g.436578C>T Copied from the Exome Variant Server SHC2_000106 5/4564 0/3180 5/1384
?/? c.775-41G>C r.(=) p.(=) g.436472C>G Copied from the Exome Variant Server SHC2_000105 1/11796 1/8072 0/3724
?/? c.775-14C>T r.(=) p.(=) g.436445G>A Copied from the Exome Variant Server SHC2_000104 3/11906 0/8132 3/3774
?/? c.775-13T>G r.(=) p.(=) g.436444A>C Copied from the Exome Variant Server SHC2_000103 1/11904 1/8134 0/3770
?/? c.775-9C>T r.(=) p.(=) g.436440G>A Copied from the Exome Variant Server SHC2_000102 2/11898 2/8134 0/3764
?/? c.775-8G>A r.(=) p.(=) g.436439C>T Copied from the Exome Variant Server SHC2_000101 84/11902 77/8142 7/3760
?/? c.775-1G>A r.spl? p.? g.436432C>T Copied from the Exome Variant Server SHC2_000100 2/11946 0/8166 2/3780
?/? c.782C>T r.(?) p.(Thr261Met) g.436424G>A Copied from the Exome Variant Server SHC2_000099 6/11970 3/8182 3/3788
?/? c.798C>T r.(=) p.(=) g.436408G>A Copied from the Exome Variant Server SHC2_000098 1/11998 0/8202 1/3796
?/? c.826+12G>A r.(=) p.(=) g.436368C>T Copied from the Exome Variant Server SHC2_000097 2/11938 2/8176 0/3762
?/? c.827-42C>T r.(=) p.(=) g.436333G>A Copied from the Exome Variant Server SHC2_000096 3/11992 2/8152 1/3840
?/? c.827-38C>T r.(=) p.(=) g.436329G>A Copied from the Exome Variant Server SHC2_000095 1/12006 1/8154 0/3852
?/? c.849T>C r.(=) p.(=) g.436269A>G Copied from the Exome Variant Server SHC2_000094 1/12604 1/8412 0/4192
?/? c.860C>A r.(?) p.(Ala287Glu) g.436258G>T Copied from the Exome Variant Server SHC2_000093 2/12672 0/8450 2/4222
?/? c.873C>G r.(?) p.(Ile291Met) g.436245G>C Copied from the Exome Variant Server SHC2_000092 2/12714 2/8460 0/4254
?/? c.880G>A r.(?) p.(Val294Met) g.436238C>T Copied from the Exome Variant Server SHC2_000091 1/12726 1/8468 0/4258
?/? c.894C>T r.(=) p.(=) g.436224G>A Copied from the Exome Variant Server SHC2_000090 2/12724 0/8470 2/4254
?/? c.902G>A r.(?) p.(Arg301His) g.436216C>T Copied from the Exome Variant Server SHC2_000089 2/12706 1/8454 1/4252
?/? c.919C>T r.(?) p.(His307Tyr) g.436199G>A Copied from the Exome Variant Server SHC2_000088 1/12714 0/8458 1/4256
?/? c.926C>T r.(?) p.(Pro309Leu) g.436192G>A Copied from the Exome Variant Server SHC2_000087 1/12670 1/8436 0/4234
?/? c.927G>A r.(=) p.(=) g.436191C>T Copied from the Exome Variant Server SHC2_000086 1/12656 1/8430 0/4226
?/? c.937G>T r.(?) p.(Ala313Ser) g.436181C>A Copied from the Exome Variant Server SHC2_000085 73/12628 0/8420 73/4208
?/? c.947C>G r.(?) p.(Pro316Arg) g.436171G>C Copied from the Exome Variant Server SHC2_000084 1/12592 1/8402 0/4190
?/? c.953+22G>A r.(=) p.(=) g.436143C>T Copied from the Exome Variant Server SHC2_000083 5/12510 5/8348 0/4162
?/? c.954-19G>A r.(=) p.(=) g.434884C>T Copied from the Exome Variant Server SHC2_000082 13/11944 1/8186 12/3758
?/? c.965C>T r.(?) p.(Pro322Leu) g.434854G>A Copied from the Exome Variant Server SHC2_000081 53/11908 1/8174 52/3734
?/? c.966G>A r.(=) p.(=) g.434853C>T Copied from the Exome Variant Server SHC2_000080 3/11930 2/8176 1/3754
?/? c.971A>G r.(?) p.(Glu324Gly) g.434848T>C Copied from the Exome Variant Server SHC2_000079 54/11968 0/8184 54/3784
?/? c.972G>T r.(?) p.(Glu324Asp) g.434847C>A Copied from the Exome Variant Server SHC2_000078 9/11968 0/8184 9/3784
?/? c.974C>T r.(?) p.(Ser325Leu) g.434845G>A Copied from the Exome Variant Server SHC2_000077 1/11968 0/8184 1/3784
?/? c.987C>T r.(=) p.(=) g.434832G>A Copied from the Exome Variant Server SHC2_000076 3/11996 3/8188 0/3808
?/? c.988G>A r.(?) p.(Glu330Lys) g.434831C>T Copied from the Exome Variant Server SHC2_000075 1/11986 1/8182 0/3804
?/? c.1046T>C r.(?) p.(Leu349Pro) g.434773A>G Copied from the Exome Variant Server SHC2_000074 1/12056 1/8190 0/3866
?/? c.1083del r.(?) p.(Gln361Hisfs*16) g.434736del Copied from the Exome Variant Server SHC2_000073 1/11786 1/7944 0/3842
?/? c.1098G>A r.(=) p.(=) g.434721C>T Copied from the Exome Variant Server SHC2_000072 1/12344 1/8322 0/4022
?/? c.1101C>T r.(=) p.(=) g.434718G>A Copied from the Exome Variant Server SHC2_000071 185/12342 106/8320 79/4022
?/? c.1111-29C>T r.(=) p.(=) g.430776G>A Copied from the Exome Variant Server SHC2_000070 165/12104 146/8252 19/3852
?/? c.1111-28G>A r.(=) p.(=) g.430775C>T Copied from the Exome Variant Server SHC2_000069 5/12106 4/8252 1/3854
?/? c.1174+49C>T r.(=) p.(=) g.430635G>A Copied from the Exome Variant Server SHC2_000068 3/12150 0/8262 3/3888
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