Full data view for gene HECTD1

Information The variants shown are described using the NM_015382.2 transcript reference sequence.

315 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.109A>G r.(?) p.(Met37Val) g.31675034T>C Copied from the Exome Variant Server HECTD1_000315 1/12326 1/8340 0/3986 - - - - - - -
?/? c.140+45C>T r.(=) p.(=) g.31674958G>A Copied from the Exome Variant Server HECTD1_000314 1/12102 1/8274 0/3828 - - - - - - -
?/? c.140+46A>G r.(=) p.(=) g.31674957T>C Copied from the Exome Variant Server HECTD1_000313 1/12084 1/8262 0/3822 - - - - - - -
?/? c.141-51G>C r.(=) p.(=) g.31647511C>G Copied from the Exome Variant Server HECTD1_000312 1/11674 0/8098 1/3576 - - - - - - -
?/? c.141-18T>G r.(=) p.(=) g.31647478A>C Copied from the Exome Variant Server HECTD1_000311 1/11748 0/8138 1/3610 - - - - - - -
?/? c.141A>C r.(=) p.(=) g.31647460T>G Copied from the Exome Variant Server HECTD1_000310 1/11824 0/8156 1/3668 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.31647448G>A Copied from the Exome Variant Server HECTD1_000309 1048/11868 981/8172 67/3696 - - - - - - -
?/? c.162A>G r.(=) p.(=) g.31647439T>C Copied from the Exome Variant Server HECTD1_000308 1101/11884 1010/8178 91/3706 - - - - - - -
?/? c.210A>G r.(=) p.(=) g.31647391T>C Copied from the Exome Variant Server HECTD1_000307 7/11992 0/8230 7/3762 - - - - - - -
?/? c.258G>A r.(=) p.(=) g.31647343C>T Copied from the Exome Variant Server HECTD1_000306 2/12072 2/8266 0/3806 - - - - - - -
?/? c.313C>G r.(?) p.(Arg105Gly) g.31647288G>C Copied from the Exome Variant Server HECTD1_000305 1/12050 1/8262 0/3788 - - - - - - -
?/? c.360C>T r.(=) p.(=) g.31647241G>A Copied from the Exome Variant Server HECTD1_000304 5743/11998 3245/8228 2498/3770 - - - - - - -
?/? c.375+21C>T r.(=) p.(=) g.31647205G>A Copied from the Exome Variant Server HECTD1_000303 1/11914 1/8212 0/3702 - - - - - - -
?/? c.376-42T>C r.(=) p.(=) g.31644386A>G Copied from the Exome Variant Server HECTD1_000302 1/11956 1/8194 0/3762 - - - - - - -
?/? c.376-41C>T r.(=) p.(=) g.31644385G>A Copied from the Exome Variant Server HECTD1_000301 1/11956 1/8194 0/3762 - - - - - - -
?/? c.376-25C>T r.(=) p.(=) g.31644369G>A Copied from the Exome Variant Server HECTD1_000300 1/12028 1/8224 0/3804 - - - - - - -
?/? c.376-10A>G r.(=) p.(=) g.31644354T>C Copied from the Exome Variant Server HECTD1_000299 2/12102 0/8252 2/3850 - - - - - - -
?/? c.391T>C r.(?) p.(Cys131Arg) g.31644329A>G Copied from the Exome Variant Server HECTD1_000298 1/12278 1/8318 0/3960 - - - - - - -
?/? c.547del r.(?) p.(Ser183Leufs*2) g.31644173del Copied from the Exome Variant Server HECTD1_000297 13/11512 11/7888 2/3624 - - - - - - -
?/? c.552A>G r.(=) p.(=) g.31644168T>C Copied from the Exome Variant Server HECTD1_000296 1/11956 1/8226 0/3730 - - - - - - -
?/? c.603+50_603+51insT r.(=) p.(=) g.31644066_31644067insA Copied from the Exome Variant Server HECTD1_000295 1/11316 0/7798 1/3518 - - - - - - -
?/? c.604-7T>C r.(=) p.(=) g.31643019A>G Copied from the Exome Variant Server HECTD1_000294 1/11994 0/8218 1/3776 - - - - - - -
?/? c.690T>C r.(=) p.(=) g.31642926A>G Copied from the Exome Variant Server HECTD1_000293 4/12416 0/8376 4/4040 - - - - - - -
?/? c.703G>C r.(?) p.(Glu235Gln) g.31642913C>G Copied from the Exome Variant Server HECTD1_000292 3/12454 0/8386 3/4068 - - - - - - -
?/? c.835A>G r.(?) p.(Ile279Val) g.31642781T>C Copied from the Exome Variant Server HECTD1_000291 1/12454 1/8382 0/4072 - - - - - - -
?/? c.885+15del r.(=) p.(=) g.31642716del Copied from the Exome Variant Server HECTD1_000290 1/11458 1/7844 0/3614 - - - - - - -
?/? c.885+31A>G r.(=) p.(=) g.31642700T>C Copied from the Exome Variant Server HECTD1_000289 1/11864 1/8168 0/3696 - - - - - - -
?/? c.886-26C>T r.(=) p.(=) g.31642658G>A Copied from the Exome Variant Server HECTD1_000288 1/11844 0/8168 1/3676 - - - - - - -
?/? c.922A>G r.(?) p.(Ser308Gly) g.31642596T>C Copied from the Exome Variant Server HECTD1_000287 1/12052 0/8254 1/3798 - - - - - - -
?/? c.931C>G r.(?) p.(Gln311Glu) g.31642587G>C Copied from the Exome Variant Server HECTD1_000286 1/12098 1/8256 0/3842 - - - - - - -
?/? c.1025G>A r.(?) p.(Ser342Asn) g.31642493C>T Copied from the Exome Variant Server HECTD1_000285 1/12184 1/8324 0/3860 - - - - - - -
?/? c.1049C>T r.(?) p.(Pro350Leu) g.31642469G>A Copied from the Exome Variant Server HECTD1_000284 1/12094 1/8284 0/3810 - - - - - - -
?/? c.1072T>C r.(?) p.(Ser358Pro) g.31642446A>G Copied from the Exome Variant Server HECTD1_000283 2/12032 2/8268 0/3764 - - - - - - -
?/? c.1082G>A r.(?) p.(Arg361His) g.31642436C>T Copied from the Exome Variant Server HECTD1_000282 1/12006 1/8248 0/3758 - - - - - - -
?/? c.1090C>A r.(=) p.(=) g.31642428G>T Copied from the Exome Variant Server HECTD1_000281 1/11986 1/8246 0/3740 - - - - - - -
?/? c.1125C>T r.(=) p.(=) g.31642393G>A Copied from the Exome Variant Server HECTD1_000280 1/11862 1/8192 0/3670 - - - - - - -
?/? c.1144A>G r.(?) p.(Ile382Val) g.31642374T>C Copied from the Exome Variant Server HECTD1_000279 3/11806 0/8162 3/3644 - - - - - - -
?/? c.1156+18_1156+19insT r.(=) p.(=) g.31642343_31642344insA Copied from the Exome Variant Server HECTD1_000278 7/11216 7/7762 0/3454 - - - - - - -
?/? c.1156+42A>G r.(=) p.(=) g.31642320T>C Copied from the Exome Variant Server HECTD1_000277 1/11352 1/7880 0/3472 - - - - - - -
?/? c.1156+45A>G r.(=) p.(=) g.31642317T>C Copied from the Exome Variant Server HECTD1_000276 5/11320 0/7856 5/3464 - - - - - - -
?/? c.1157-51A>G r.(=) p.(=) g.31641379T>C Copied from the Exome Variant Server HECTD1_000275 8/11676 0/8096 8/3580 - - - - - - -
?/? c.1157-29G>A r.(=) p.(=) g.31641357C>T Copied from the Exome Variant Server HECTD1_000274 4/11692 0/8118 4/3574 - - - - - - -
?/? c.1157-16del r.(=) p.(=) g.31641344del Copied from the Exome Variant Server HECTD1_000273 105/11246 80/7788 25/3458 - - - - - - -
?/? c.1157-15C>G r.(=) p.(=) g.31641343G>C Copied from the Exome Variant Server HECTD1_000272 1/11696 0/8122 1/3574 - - - - - - -
?/? c.1233+23G>A r.(=) p.(=) g.31641229C>T Copied from the Exome Variant Server HECTD1_000271 1/11690 0/8116 1/3574 - - - - - - -
?/? c.1233+39T>C r.(=) p.(=) g.31641213A>G Copied from the Exome Variant Server HECTD1_000270 1/11700 1/8116 0/3584 - - - - - - -
?/? c.1234-16C>T r.(=) p.(=) g.31641181G>A Copied from the Exome Variant Server HECTD1_000269 5/11754 4/8142 1/3612 - - - - - - -
?/? c.1234-15G>A r.(=) p.(=) g.31641180C>T Copied from the Exome Variant Server HECTD1_000268 1/11766 1/8148 0/3618 - - - - - - -
?/? c.1284A>G r.(=) p.(=) g.31641115T>C Copied from the Exome Variant Server HECTD1_000267 1/11844 1/8172 0/3672 - - - - - - -
?/? c.1322A>G r.(?) p.(Gln441Arg) g.31641077T>C Copied from the Exome Variant Server HECTD1_000266 3/11798 3/8150 0/3648 - - - - - - -
?/? c.1333-18A>C r.(=) p.(=) g.31638692T>G Copied from the Exome Variant Server HECTD1_000265 11/11820 0/8162 11/3658 - - - - - - -
?/? c.1386T>C r.(=) p.(=) g.31638621A>G Copied from the Exome Variant Server HECTD1_000264 1/11864 1/8184 0/3680 - - - - - - -
?/? c.1403G>T r.(?) p.(Arg468Leu) g.31638604C>A Copied from the Exome Variant Server HECTD1_000263 1/11862 1/8184 0/3678 - - - - - - -
?/? c.1447+3G>A r.spl? p.? g.31638557C>T Copied from the Exome Variant Server HECTD1_000262 1/11900 1/8212 0/3688 - - - - - - -
?/? c.1447+19del r.(=) p.(=) g.31638541del Copied from the Exome Variant Server HECTD1_000261 1/11416 1/7856 0/3560 - - - - - - -
?/? c.1447+33T>C r.(=) p.(=) g.31638527A>G Copied from the Exome Variant Server HECTD1_000260 1/11858 0/8194 1/3664 - - - - - - -
?/? c.1448-27A>G r.(=) p.(=) g.31637705T>C Copied from the Exome Variant Server HECTD1_000259 30/11672 28/8108 2/3564 - - - - - - -
?/? c.1573T>C r.(=) p.(=) g.31637553A>G Copied from the Exome Variant Server HECTD1_000258 5/11914 4/8196 1/3718 - - - - - - -
?/? c.1600C>G r.(?) p.(Gln534Glu) g.31637526G>C Copied from the Exome Variant Server HECTD1_000257 66/11894 1/8188 65/3706 - - - - - - -
?/? c.1618A>G r.(?) p.(Ile540Val) g.31637508T>C Copied from the Exome Variant Server HECTD1_000256 1/11886 1/8200 0/3686 - - - - - - -
?/? c.1622+13A>G r.(=) p.(=) g.31637491T>C Copied from the Exome Variant Server HECTD1_000255 183/11858 2/8204 181/3654 - - - - - - -
?/? c.1623-26A>G r.(=) p.(=) g.31626535T>C Copied from the Exome Variant Server HECTD1_000254 1/11708 0/8128 1/3580 - - - - - - -
?/? c.1623-24A>G r.(=) p.(=) g.31626533T>C Copied from the Exome Variant Server HECTD1_000253 2/11708 2/8128 0/3580 - - - - - - -
?/? c.1623-16A>G r.(=) p.(=) g.31626525T>C Copied from the Exome Variant Server HECTD1_000252 1/11716 1/8132 0/3584 - - - - - - -
?/? c.1761+27G>T r.(=) p.(=) g.31626344C>A Copied from the Exome Variant Server HECTD1_000251 1/11772 0/8146 1/3626 - - - - - - -
?/? c.1761+29A>C r.(=) p.(=) g.31626342T>G Copied from the Exome Variant Server HECTD1_000250 1/11774 1/8150 0/3624 - - - - - - -
?/? c.1761+46A>G r.(=) p.(=) g.31626325T>C Copied from the Exome Variant Server HECTD1_000249 12/11746 1/8146 11/3600 - - - - - - -
?/? c.1761+47G>A r.(=) p.(=) g.31626324C>T Copied from the Exome Variant Server HECTD1_000248 9/11744 1/8144 8/3600 - - - - - - -
?/? c.1800A>G r.(?) p.(Ile600Met) g.31626178T>C Copied from the Exome Variant Server HECTD1_000247 1/11902 1/8214 0/3688 - - - - - - -
?/? c.1932+19A>G r.(=) p.(=) g.31626027T>C Copied from the Exome Variant Server HECTD1_000246 9/11760 8/8146 1/3614 - - - - - - -
?/? c.1933-33T>C r.(=) p.(=) g.31619460A>G Copied from the Exome Variant Server HECTD1_000245 54/11750 0/8130 54/3620 - - - - - - -
?/? c.1933-12_1933-4del r.spl? p.? g.31619431_31619439del Copied from the Exome Variant Server HECTD1_000244 155/11388 1/7836 154/3552 - - - - - - -
?/? c.1968A>G r.(=) p.(=) g.31619392T>C Copied from the Exome Variant Server HECTD1_000243 2659/11966 1060/8224 1599/3742 - - - - - - -
?/? c.1980A>G r.(=) p.(=) g.31619380T>C Copied from the Exome Variant Server HECTD1_000242 1/12006 1/8242 0/3764 - - - - - - -
?/? c.2070T>C r.(=) p.(=) g.31619290A>G Copied from the Exome Variant Server HECTD1_000241 46/11988 40/8226 6/3762 - - - - - - -
?/? c.2155+17A>G r.(=) p.(=) g.31619188T>C Copied from the Exome Variant Server HECTD1_000240 8/11776 0/8156 8/3620 - - - - - - -
?/? c.2155+21A>C r.(=) p.(=) g.31619184T>G Copied from the Exome Variant Server HECTD1_000239 4/11778 0/8152 4/3626 - - - - - - -
?/? c.2155+38C>G r.(=) p.(=) g.31619167G>C Copied from the Exome Variant Server HECTD1_000238 7/11782 1/8144 6/3638 - - - - - - -
?/? c.2155+48G>A r.(=) p.(=) g.31619157C>T Copied from the Exome Variant Server HECTD1_000237 2/11782 2/8148 0/3634 - - - - - - -
?/? c.2156-8C>A r.(=) p.(=) g.31618374G>T Copied from the Exome Variant Server HECTD1_000236 1/11750 1/8138 0/3612 - - - - - - -
?/? c.2229T>C r.(=) p.(=) g.31618293A>G Copied from the Exome Variant Server HECTD1_000235 207/11996 4/8248 203/3748 - - - - - - -
?/? c.2233C>T r.(=) p.(=) g.31618289G>A Copied from the Exome Variant Server HECTD1_000234 23/12002 0/8248 23/3754 - - - - - - -
?/? c.2419+30del r.(=) p.(=) g.31618073del Copied from the Exome Variant Server HECTD1_000233 50/11282 42/7794 8/3488 - - - - - - -
?/? c.2420-28_2420-27insT r.(=) p.(=) g.31618030_31618031insA Copied from the Exome Variant Server HECTD1_000232 20/11268 0/7794 20/3474 - - - - - - -
?/? c.2420-19T>C r.(=) p.(=) g.31618022A>G Copied from the Exome Variant Server HECTD1_000231 2/11708 2/8118 0/3590 - - - - - - -
?/? c.2420-18_2420-17insC r.(=) p.(=) g.31618020_31618021insG Copied from the Exome Variant Server HECTD1_000230 1/11274 1/7794 0/3480 - - - - - - -
?/? c.2420-10del r.(=) p.(=) g.31618013del Copied from the Exome Variant Server HECTD1_000229 3/11270 1/7794 2/3476 - - - - - - -
?/? c.2420-4del r.spl? p.? g.31618007del Copied from the Exome Variant Server HECTD1_000228 2/11260 1/7792 1/3468 - - - - - - -
?/? c.2455G>T r.(?) p.(Gly819Cys) g.31617968C>A Copied from the Exome Variant Server HECTD1_000227 28/11736 0/8126 28/3610 - - - - - - -
?/? c.2496+8T>C r.(=) p.(=) g.31617919A>G Copied from the Exome Variant Server HECTD1_000226 55/11738 47/8136 8/3602 - - - - - - -
?/? c.2496+47T>G r.(=) p.(=) g.31617880A>C Copied from the Exome Variant Server HECTD1_000225 2611/11714 1051/8132 1560/3582 - - - - - - -
?/? c.2497-41_2497-39del r.(=) p.(=) g.31614186_31614188del Copied from the Exome Variant Server HECTD1_000224 26/11324 0/7832 26/3492 - - - - - - -
?/? c.2497-29_2497-28insA r.(=) p.(=) g.31614175_31614176insT Copied from the Exome Variant Server HECTD1_000223 3/11342 3/7834 0/3508 - - - - - - -
?/? c.2497-12_2497-3del r.spl? p.? g.31614150_31614159del Copied from the Exome Variant Server HECTD1_000222 1/11376 1/7836 0/3540 - - - - - - -
?/? c.2518T>A r.(?) p.(Leu840Ile) g.31614126A>T Copied from the Exome Variant Server HECTD1_000221 1/11904 1/8202 0/3702 - - - - - - -
?/? c.2625T>G r.(?) p.(Asn875Lys) g.31614019A>C Copied from the Exome Variant Server HECTD1_000220 1/11936 0/8216 1/3720 - - - - - - -
?/? c.2631+33G>A r.(=) p.(=) g.31613980C>T Copied from the Exome Variant Server HECTD1_000219 1/11890 1/8194 0/3696 - - - - - - -
?/? c.2631+35G>A r.(=) p.(=) g.31613978C>T Copied from the Exome Variant Server HECTD1_000218 1/11888 0/8194 1/3694 - - - - - - -
?/? c.2632-54_2632-52del r.(=) p.(=) g.31613515_31613517del Copied from the Exome Variant Server HECTD1_000217 2/11060 0/7628 2/3432 - - - - - - -
?/? c.2768T>C r.(?) p.(Val923Ala) g.31613327A>G Copied from the Exome Variant Server HECTD1_000216 1/11770 0/8144 1/3626 - - - - - - -
Legend   « First ‹ Prev     1 2 3 4     Next › Last »