Full data view for gene SMAP1

Information The variants shown are described using the NM_001044305.1 transcript reference sequence.

110 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-44C>T r.(=) p.(=) g.71377683C>T Copied from the Exome Variant Server SMAP1_000001 292/12640 270/8360 22/4280 - - - - - - -
?/? c.-42C>T r.(=) p.(=) g.71377685C>T Copied from the Exome Variant Server SMAP1_000002 1/12674 0/8384 1/4290 - - - - - - -
?/? c.-29T>C r.(=) p.(=) g.71377698T>C Copied from the Exome Variant Server SMAP1_000003 1/12898 1/8544 0/4354 - - - - - - -
?/? c.-21G>T r.(=) p.(=) g.71377706G>T Copied from the Exome Variant Server SMAP1_000004 1/12942 0/8568 1/4374 - - - - - - -
?/? c.-16C>T r.(=) p.(=) g.71377711C>T Copied from the Exome Variant Server SMAP1_000005 1642/12958 438/8578 1204/4380 - - - - - - -
?/? c.-9G>A r.(=) p.(=) g.71377718G>A Copied from the Exome Variant Server SMAP1_000006 2/12982 2/8590 0/4392 - - - - - - -
?/? c.8C>A r.(?) p.(Thr3Lys) g.71377734C>A Copied from the Exome Variant Server SMAP1_000007 1/12994 1/8598 0/4396 - - - - - - -
?/? c.45G>A r.(=) p.(=) g.71377771G>A Copied from the Exome Variant Server SMAP1_000009 1/13004 0/8598 1/4406 - - - - - - -
?/? c.55C>A r.(?) p.(Leu19Ile) g.71377781C>A Copied from the Exome Variant Server SMAP1_000011 103/13006 96/8600 7/4406 - - - - - - -
?/? c.63A>G r.(=) p.(=) g.71377789A>G Copied from the Exome Variant Server SMAP1_000013 2/13006 0/8600 2/4406 - - - - - - -
?/? c.118+11C>T r.(=) p.(=) g.71377855C>T Copied from the Exome Variant Server SMAP1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.118+26C>T r.(=) p.(=) g.71377870C>T Copied from the Exome Variant Server SMAP1_000017 4/13006 4/8600 0/4406 - - - - - - -
?/? c.118+34G>T r.(=) p.(=) g.71377878G>T Copied from the Exome Variant Server SMAP1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.118+35C>T r.(=) p.(=) g.71377879C>T Copied from the Exome Variant Server SMAP1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.145G>A r.(?) p.(Gly49Ser) g.71442107G>A Copied from the Exome Variant Server SMAP1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.216A>C r.(=) p.(=) g.71442178A>C Copied from the Exome Variant Server SMAP1_000010 2/13006 0/8600 2/4406 - - - - - - -
?/? c.240A>C r.(=) p.(=) g.71442202A>C Copied from the Exome Variant Server SMAP1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.252+11C>T r.(=) p.(=) g.71442225C>T Copied from the Exome Variant Server SMAP1_000014 17/13006 15/8600 2/4406 - - - - - - -
?/? c.252+12G>A r.(=) p.(=) g.71442226G>A Copied from the Exome Variant Server SMAP1_000016 3/13006 0/8600 3/4406 - - - - - - -
?/? c.253-39A>G r.(=) p.(=) g.71464644A>G Copied from the Exome Variant Server SMAP1_000018 2/12968 2/8582 0/4386 - - - - - - -
?/? c.303T>C r.(=) p.(=) g.71464733T>C Copied from the Exome Variant Server SMAP1_000020 1/12994 1/8590 0/4404 - - - - - - -
?/? c.315_316del r.(?) p.(Phe106Serfs*16) g.71464745_71464746del Copied from the Exome Variant Server SMAP1_000022 1/12506 1/8244 0/4262 - - - - - - -
?/? c.338+18T>C r.(=) p.(=) g.71464786T>C Copied from the Exome Variant Server SMAP1_000023 347/12998 320/8592 27/4406 - - - - - - -
?/? c.338+35A>C r.(=) p.(=) g.71464803A>C Copied from the Exome Variant Server SMAP1_000024 1/12992 1/8586 0/4406 - - - - - - -
?/? c.339-43A>G r.(=) p.(=) g.71483010A>G Copied from the Exome Variant Server SMAP1_000025 2/12928 2/8562 0/4366 - - - - - - -
?/? c.339-40T>C r.(=) p.(=) g.71483013T>C Copied from the Exome Variant Server SMAP1_000026 476/12936 5/8564 471/4372 - - - - - - -
?/? c.363T>G r.(?) p.(Asp121Glu) g.71483077T>G Copied from the Exome Variant Server SMAP1_000027 1/12950 1/8576 0/4374 - - - - - - -
?/? c.369T>C r.(=) p.(=) g.71483083T>C Copied from the Exome Variant Server SMAP1_000028 2/12952 2/8574 0/4378 - - - - - - -
?/? c.387C>T r.(=) p.(=) g.71483101C>T Copied from the Exome Variant Server SMAP1_000029 2/12954 2/8572 0/4382 - - - - - - -
?/? c.414+7del r.(=) p.(=) g.71483135del Copied from the Exome Variant Server SMAP1_000030 13/12454 1/8216 12/4238 - - - - - - -
?/? c.414+26_414+29del r.(=) p.(=) g.71483154_71483157del Copied from the Exome Variant Server SMAP1_000031 1/12444 1/8210 0/4234 - - - - - - -
?/? c.415-56T>C r.(=) p.(=) g.71501336T>C Copied from the Exome Variant Server SMAP1_000032 52/4566 46/3182 6/1384 - - - - - - -
?/? c.430G>T r.(?) p.(Ala144Ser) g.71501407G>T Copied from the Exome Variant Server SMAP1_000033 2/12044 2/8232 0/3812 - - - - - - -
?/? c.495+9A>C r.(=) p.(=) g.71501481A>C Copied from the Exome Variant Server SMAP1_000034 3/12044 3/8248 0/3796 - - - - - - -
?/? c.495+22C>A r.(=) p.(=) g.71501494C>A Copied from the Exome Variant Server SMAP1_000035 279/12020 255/8250 24/3770 - - - - - - -
?/? c.496-20A>T r.(=) p.(=) g.71508340A>T Copied from the Exome Variant Server SMAP1_000036 8/12600 0/8326 8/4274 - - - - - - -
?/? c.496-10_496-9del r.(=) p.(=) g.71508350_71508351del Copied from the Exome Variant Server SMAP1_000037 85/12200 64/8042 21/4158 - - - - - - -
?/? c.506_507del r.(?) p.(Lys172Glyfs*19) g.71508370_71508371del Copied from the Exome Variant Server SMAP1_000038 160/12370 108/8148 52/4222 - - - - - - -
?/? c.507del r.(?) p.(Lys172Argfs*48) g.71508371del Copied from the Exome Variant Server SMAP1_000040 1204/12370 754/8148 450/4222 - - - - - - -
?/? c.507dup r.(?) p.(Glu173Glyfs*19) g.71508371dup Copied from the Exome Variant Server SMAP1_000039 198/12370 126/8148 72/4222 - - - - - - -
?/? c.551C>T r.(?) p.(Pro184Leu) g.71508415C>T Copied from the Exome Variant Server SMAP1_000041 10/12974 10/8576 0/4398 - - - - - - -
?/? c.552G>A r.(=) p.(=) g.71508416G>A Copied from the Exome Variant Server SMAP1_000042 1/12974 1/8576 0/4398 - - - - - - -
?/? c.576+9_576+10insT r.(=) p.(=) g.71508449_71508450insT Copied from the Exome Variant Server SMAP1_000043 4/12412 3/8180 1/4232 - - - - - - -
?/? c.576+45A>C r.(=) p.(=) g.71508485A>C Copied from the Exome Variant Server SMAP1_000044 4/12582 0/8308 4/4274 - - - - - - -
?/? c.577-21A>G r.(=) p.(=) g.71546623A>G Copied from the Exome Variant Server SMAP1_000045 32/12982 0/8586 32/4396 - - - - - - -
?/? c.599T>C r.(?) p.(Leu200Pro) g.71546666T>C Copied from the Exome Variant Server SMAP1_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.631G>T r.(?) p.(Ala211Ser) g.71546698G>T Copied from the Exome Variant Server SMAP1_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.635C>T r.(?) p.(Ala212Val) g.71546702C>T Copied from the Exome Variant Server SMAP1_000048 1926/13006 646/8600 1280/4406 - - - - - - -
?/? c.664+39A>G r.(=) p.(=) g.71546770A>G Copied from the Exome Variant Server SMAP1_000049 4/12964 3/8574 1/4390 - - - - - - -
?/? c.664+46T>C r.(=) p.(=) g.71546777T>C Copied from the Exome Variant Server SMAP1_000050 206/12930 185/8554 21/4376 - - - - - - -
?/? c.665-30C>T r.(=) p.(=) g.71562213C>T Copied from the Exome Variant Server SMAP1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.665-22C>T r.(=) p.(=) g.71562221C>T Copied from the Exome Variant Server SMAP1_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.665-21G>A r.(=) p.(=) g.71562222G>A Copied from the Exome Variant Server SMAP1_000053 3/13006 0/8600 3/4406 - - - - - - -
?/? c.720C>T r.(=) p.(=) g.71562298C>T Copied from the Exome Variant Server SMAP1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.744G>A r.(=) p.(=) g.71562322G>A Copied from the Exome Variant Server SMAP1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.789+17del r.(=) p.(=) g.71562384del Copied from the Exome Variant Server SMAP1_000056 1/12518 1/8254 0/4264 - - - - - - -
?/? c.790-47C>T r.(=) p.(=) g.71566515C>T Copied from the Exome Variant Server SMAP1_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.790-38A>G r.(=) p.(=) g.71566524A>G Copied from the Exome Variant Server SMAP1_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.790-36G>A r.(=) p.(=) g.71566526G>A Copied from the Exome Variant Server SMAP1_000059 2/13006 0/8600 2/4406 - - - - - - -
?/? c.826A>G r.(?) p.(Thr276Ala) g.71566598A>G Copied from the Exome Variant Server SMAP1_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.827C>T r.(?) p.(Thr276Ile) g.71566599C>T Copied from the Exome Variant Server SMAP1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.876_878del r.(?) p.(Glu294del) g.71566648_71566650del Copied from the Exome Variant Server SMAP1_000062 80/12518 52/8254 28/4264 - - - - - - -
?/? c.961+6G>A r.(=) p.(=) g.71566739G>A Copied from the Exome Variant Server SMAP1_000063 3/13006 2/8600 1/4406 - - - - - - -
?/? c.961+39G>C r.(=) p.(=) g.71566772G>C Copied from the Exome Variant Server SMAP1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.962-34_962-33del r.(=) p.(=) g.71567591_71567592del Copied from the Exome Variant Server SMAP1_000065 88/12518 1/8254 87/4264 - - - - - - -
?/? c.962-20A>G r.(=) p.(=) g.71567605A>G Copied from the Exome Variant Server SMAP1_000066 3/13006 0/8600 3/4406 - - - - - - -
?/? c.962-20_962-19insTTTTC r.(=) p.(=) g.71567605_71567606insTTTTC Copied from the Exome Variant Server SMAP1_000067 2/12518 2/8254 0/4264 - - - - - - -
?/? c.962G>A r.(?) p.(Gly321Asp) g.71567625G>A Copied from the Exome Variant Server SMAP1_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.986T>C r.(?) p.(Ile329Thr) g.71567649T>C Copied from the Exome Variant Server SMAP1_000069 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1029A>G r.(=) p.(=) g.71567692A>G Copied from the Exome Variant Server SMAP1_000070 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1064T>C r.(?) p.(Leu355Pro) g.71567727T>C Copied from the Exome Variant Server SMAP1_000071 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1067T>C r.(?) p.(Ile356Thr) g.71567730T>C Copied from the Exome Variant Server SMAP1_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1091C>T r.(?) p.(Pro364Leu) g.71567754C>T Copied from the Exome Variant Server SMAP1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1121A>G r.(?) p.(Asn374Ser) g.71567784A>G Copied from the Exome Variant Server SMAP1_000074 4/13006 1/8600 3/4406 - - - - - - -
?/? c.1218_1219insAGTA r.(?) p.(Phe409*) g.71567881_71567882insAGTA Copied from the Exome Variant Server SMAP1_000075 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1226T>C r.(?) p.(Phe409Ser) g.71567889T>C Copied from the Exome Variant Server SMAP1_000076 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1229G>T r.(?) p.(Gly410Val) g.71567892G>T Copied from the Exome Variant Server SMAP1_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1269+3del r.spl? p.? g.71567935del Copied from the Exome Variant Server SMAP1_000078 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1269+21A>G r.(=) p.(=) g.71567953A>G Copied from the Exome Variant Server SMAP1_000079 4/13006 1/8600 3/4406 - - - - - - -
?/? c.1269+26C>T r.(=) p.(=) g.71567958C>T Copied from the Exome Variant Server SMAP1_000080 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1269+36del r.(=) p.(=) g.71567968del Copied from the Exome Variant Server SMAP1_000081 1/12502 1/8248 0/4254 - - - - - - -
?/? c.1270-51A>T r.(=) p.(=) g.71569852A>T Copied from the Exome Variant Server SMAP1_000082 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1270-50A>G r.(=) p.(=) g.71569853A>G Copied from the Exome Variant Server SMAP1_000083 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1270-40_1270-37del r.(=) p.(=) g.71569863_71569866del Copied from the Exome Variant Server SMAP1_000084 7/12518 6/8254 1/4264 - - - - - - -
?/? c.1296T>G r.(?) p.(Ser432Arg) g.71569929T>G Copied from the Exome Variant Server SMAP1_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1316C>T r.(?) p.(Thr439Ile) g.71569949C>T Copied from the Exome Variant Server SMAP1_000087 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1380T>A r.(=) p.(=) g.71570013T>A Copied from the Exome Variant Server SMAP1_000089 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1381C>T r.(?) p.(Leu461Phe) g.71570014C>T Copied from the Exome Variant Server SMAP1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*11A>G r.(=) p.(=) g.71570048A>G Copied from the Exome Variant Server SMAP1_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*1283A>T r.(=) p.(=) g.71571320A>T Copied from the Exome Variant Server SMAP1_000086 69/13006 0/8600 69/4406 - - - - - - -
?/? c.*1303C>T r.(=) p.(=) g.71571340C>T Copied from the Exome Variant Server SMAP1_000088 2/13006 1/8600 1/4406 - - - - - - -
?/? c.*1310C>T r.(=) p.(=) g.71571347C>T Copied from the Exome Variant Server SMAP1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*1315G>A r.(=) p.(=) g.71571352G>A Copied from the Exome Variant Server SMAP1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*1334C>T r.(?) p.(Val323Ile) g.71571371C>T Copied from the Exome Variant Server SMAP1_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*1346C>T r.(?) p.(Val319Met) g.71571383C>T Copied from the Exome Variant Server SMAP1_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*1392T>C r.(=) p.(=) g.71571429T>C Copied from the Exome Variant Server SMAP1_000096 7/13006 0/8600 7/4406 - - - - - - -
?/? c.*1392_*1393insGTCC r.(?) p.(Glu304Aspfs*5) g.71571429_71571430insGTCC Copied from the Exome Variant Server SMAP1_000097 1/12518 0/8254 1/4264 - - - - - - -
?/? c.*1396C>T r.(?) p.(Arg302Gln) g.71571433C>T Copied from the Exome Variant Server SMAP1_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*1397G>T r.(=) p.(=) g.71571434G>T Copied from the Exome Variant Server SMAP1_000099 5/13006 0/8600 5/4406 - - - - - - -
?/? c.*1466G>A r.(=) p.(=) g.71571503G>A Copied from the Exome Variant Server SMAP1_000100 1/13006 0/8600 1/4406 - - - - - - -
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