Full data view for gene FANCM

Information The variants shown are described using the NM_020937.2 transcript reference sequence.

298 entries on 3 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.-17C>T r.(=) p.(=) g.45605218C>T Copied from the Exome Variant Server FANCM_000001 2/12210 0/8116 2/4094 - - - - - - -
?/? c.-5G>A r.(=) p.(=) g.45605230G>A Copied from the Exome Variant Server FANCM_000002 1/12554 1/8330 0/4224 - - - - - - -
?/? c.11G>A r.(?) p.(Arg4Gln) g.45605245G>A Copied from the Exome Variant Server FANCM_000003 1/12760 0/8450 1/4310 - - - - - - -
?/? c.30G>A r.(=) p.(=) g.45605264G>A Copied from the Exome Variant Server FANCM_000004 3/12916 3/8538 0/4378 - - - - - - -
?/? c.53G>A r.(?) p.(Arg18Gln) g.45605287G>A Copied from the Exome Variant Server FANCM_000005 2/12998 2/8594 0/4404 - - - - - - -
?/? c.56C>T r.(?) p.(Ser19Leu) g.45605290C>T Copied from the Exome Variant Server FANCM_000006 1/12998 1/8594 0/4404 - - - - - - -
?/? c.68C>A r.(?) p.(Pro23Gln) g.45605302C>A Copied from the Exome Variant Server FANCM_000007 1/12992 1/8592 0/4400 - - - - - - -
?/? c.159C>T r.(=) p.(=) g.45605393C>T Copied from the Exome Variant Server FANCM_000009 9/13006 0/8600 9/4406 - - - - - - -
?/? c.162T>C r.(=) p.(=) g.45605396T>C Copied from the Exome Variant Server FANCM_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.163G>A r.(?) p.(Asp55Asn) g.45605397G>A Copied from the Exome Variant Server FANCM_000013 3/13006 3/8600 0/4406 - - - - - - -
?/? c.171G>C r.(?) p.(Leu57Phe) g.45605405G>C Copied from the Exome Variant Server FANCM_000008 24/13006 22/8600 2/4406 - - - - - - -
?/? c.219_220insG r.(?) p.(Phe75Valfs*110) g.45605453_45605454insG Copied from the Exome Variant Server FANCM_000010 45/12518 34/8254 11/4264 - - - - - - -
?/? c.226T>C r.(?) p.(Cys76Arg) g.45605460T>C Copied from the Exome Variant Server FANCM_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.229A>G r.(?) p.(Thr77Ala) g.45605463A>G Copied from the Exome Variant Server FANCM_000014 277/13006 123/8600 154/4406 - - - - - - -
?/? c.231C>T r.(=) p.(=) g.45605465C>T Copied from the Exome Variant Server FANCM_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.269C>T r.(?) p.(Pro90Leu) g.45605503C>T Copied from the Exome Variant Server FANCM_000016 8/13006 6/8600 2/4406 - - - - - - -
?/? c.291C>G r.(?) p.(His97Gln) g.45605525C>G Copied from the Exome Variant Server FANCM_000017 2/13006 0/8600 2/4406 - - - - - - -
?/? c.315C>T r.(=) p.(=) g.45605549C>T Copied from the Exome Variant Server FANCM_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.340G>A r.(?) p.(Gly114Arg) g.45605574G>A Copied from the Exome Variant Server FANCM_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.390C>T r.(=) p.(=) g.45605624C>T Copied from the Exome Variant Server FANCM_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.463T>C r.(?) p.(Tyr155His) g.45605697T>C Copied from the Exome Variant Server FANCM_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.486A>C r.(?) p.(Gln162His) g.45605720A>C Copied from the Exome Variant Server FANCM_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.491A>C r.(?) p.(His164Pro) g.45605725A>C Copied from the Exome Variant Server FANCM_000023 22/13006 0/8600 22/4406 - - - - - - -
?/? c.496G>A r.(?) p.(Ala166Thr) g.45605730G>A Copied from the Exome Variant Server FANCM_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.504G>C r.(?) p.(Met168Ile) g.45605738G>C Copied from the Exome Variant Server FANCM_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.524C>T r.(?) p.(Ser175Phe) g.45606287C>T Copied from the Exome Variant Server FANCM_000026 2216/13006 475/8600 1741/4406 - - - - - - -
?/? c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T Copied from the Exome Variant Server FANCM_000027 46/13006 44/8600 2/4406 - - - - - - -
?/? c.538A>G r.(?) p.(Ile180Val) g.45606301A>G Copied from the Exome Variant Server FANCM_000028 2/13006 2/8600 0/4406 - - - - - - -
?/? c.547A>C r.(?) p.(Ser183Arg) g.45606310A>C Copied from the Exome Variant Server FANCM_000029 2/13006 2/8600 0/4406 - - - - - - -
?/? c.601G>A r.(?) p.(Gly201Arg) g.45606364G>A Copied from the Exome Variant Server FANCM_000030 2/13006 0/8600 2/4406 - - - - - - -
?/? c.624A>G r.(?) p.(Ile208Met) g.45606387A>G Copied from the Exome Variant Server FANCM_000031 148/13006 130/8600 18/4406 - - - - - - -
?/? c.681+12G>A r.(=) p.(=) g.45606456G>A Copied from the Exome Variant Server FANCM_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.682-3A>C r.spl? p.? g.45609832A>C Copied from the Exome Variant Server FANCM_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.693A>G r.(=) p.(=) g.45609846A>G Copied from the Exome Variant Server FANCM_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.730C>T r.(=) p.(=) g.45609883C>T Copied from the Exome Variant Server FANCM_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.759+17_759+18insC r.(=) p.(=) g.45609929_45609930insC Copied from the Exome Variant Server FANCM_000036 1/12514 0/8252 1/4262 - - - - - - -
?/? c.760-21_760-18del r.(=) p.(=) g.45618019_45618022del Copied from the Exome Variant Server FANCM_000037 7/12508 5/8248 2/4260 - - - - - - -
?/? c.760G>A r.(?) p.(Ala254Thr) g.45618040G>A Copied from the Exome Variant Server FANCM_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.775A>G r.(?) p.(Ile259Val) g.45618055A>G Copied from the Exome Variant Server FANCM_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.869T>C r.(?) p.(Ile290Thr) g.45618149T>C Copied from the Exome Variant Server FANCM_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.874C>G r.(?) p.(Pro292Ala) g.45618154C>G Copied from the Exome Variant Server FANCM_000041 10/13006 0/8600 10/4406 - - - - - - -
?/? c.876G>A r.(=) p.(=) g.45618156G>A Copied from the Exome Variant Server FANCM_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.918+18C>G r.(=) p.(=) g.45618216C>G Copied from the Exome Variant Server FANCM_000043 2/13004 0/8598 2/4406 - - - - - - -
?/? c.919-19A>G r.(=) p.(=) g.45620581A>G Copied from the Exome Variant Server FANCM_000044 1/12998 1/8594 0/4404 - - - - - - -
?/? c.926A>C r.(?) p.(Glu309Ala) g.45620607A>C Copied from the Exome Variant Server FANCM_000045 10/12998 0/8596 10/4402 - - - - - - -
?/? c.937C>T r.(?) p.(Arg313Cys) g.45620618C>T Copied from the Exome Variant Server FANCM_000046 1/13000 1/8596 0/4404 - - - - - - -
?/? c.950A>G r.(?) p.(Gln317Arg) g.45620631A>G Copied from the Exome Variant Server FANCM_000047 1/13002 1/8598 0/4404 - - - - - - -
?/? c.990A>G r.(=) p.(=) g.45620671A>G Copied from the Exome Variant Server FANCM_000048 11/13006 0/8600 11/4406 - - - - - - -
?/? c.1040C>T r.(?) p.(Pro347Leu) g.45620721C>T Copied from the Exome Variant Server FANCM_000049 33/12998 0/8592 33/4406 - - - - - - -
?/? c.1041G>A r.(=) p.(=) g.45620722G>A Copied from the Exome Variant Server FANCM_000050 3/12998 0/8592 3/4406 - - - - - - -
?/? c.1043A>G r.(?) p.(Asn348Ser) g.45620724A>G Copied from the Exome Variant Server FANCM_000051 1/12998 0/8592 1/4406 - - - - - - -
?/? c.1051-33T>C r.(=) p.(=) g.45623090T>C Copied from the Exome Variant Server FANCM_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1051-12C>T r.(=) p.(=) g.45623111C>T Copied from the Exome Variant Server FANCM_000053 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1080G>A r.(=) p.(=) g.45623152G>A Copied from the Exome Variant Server FANCM_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1132G>C r.(?) p.(Gly378Arg) g.45623204G>C Copied from the Exome Variant Server FANCM_000055 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1183+23A>T r.(=) p.(=) g.45623278A>T Copied from the Exome Variant Server FANCM_000056 1/12978 0/8578 1/4400 - - - - - - -
?/? c.1183+25G>C r.(=) p.(=) g.45623280G>C Copied from the Exome Variant Server FANCM_000057 1/12978 1/8578 0/4400 - - - - - - -
?/? c.1183+32T>C r.(=) p.(=) g.45623287T>C Copied from the Exome Variant Server FANCM_000058 51/12980 0/8584 51/4396 - - - - - - -
?/? c.1183+39T>C r.(=) p.(=) g.45623294T>C Copied from the Exome Variant Server FANCM_000059 1/12974 0/8582 1/4392 - - - - - - -
?/? c.1184-48A>G r.(=) p.(=) g.45623852A>G Copied from the Exome Variant Server FANCM_000061 7/12534 7/8344 0/4190 - - - - - - -
?/? c.1222G>C r.(?) p.(Asp408His) g.45623938G>C Copied from the Exome Variant Server FANCM_000060 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1237T>C r.(?) p.(Tyr413His) g.45623953T>C Copied from the Exome Variant Server FANCM_000062 14/13006 12/8600 2/4406 - - - - - - -
?/? c.1249G>C r.(?) p.(Glu417Gln) g.45623965G>C Copied from the Exome Variant Server FANCM_000063 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1264C>T r.(?) p.(Arg422Cys) g.45623980C>T Copied from the Exome Variant Server FANCM_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1271G>A r.(?) p.(Arg424His) g.45623987G>A Copied from the Exome Variant Server FANCM_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1295C>T r.(?) p.(Ser432Phe) g.45624011C>T Copied from the Exome Variant Server FANCM_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1300A>C r.(?) p.(Ile434Leu) g.45624016A>C Copied from the Exome Variant Server FANCM_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1309+5G>T r.spl? p.? g.45624030G>T Copied from the Exome Variant Server FANCM_000068 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1309+10T>G r.(=) p.(=) g.45624035T>G Copied from the Exome Variant Server FANCM_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1310-43_1310-42insA r.(=) p.(=) g.45624533_45624534insA Copied from the Exome Variant Server FANCM_000070 642/11698 22/7900 620/3798 - - - - - - -
?/? c.1373T>C r.(?) p.(Ile458Thr) g.45624639T>C Copied from the Exome Variant Server FANCM_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1396+10A>G r.(=) p.(=) g.45624672A>G Copied from the Exome Variant Server FANCM_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1396+26G>A r.(=) p.(=) g.45624688G>A Copied from the Exome Variant Server FANCM_000073 337/13006 307/8600 30/4406 - - - - - - -
?/? c.1397-15_1397-12del r.(=) p.(=) g.45628284_45628287del Copied from the Exome Variant Server FANCM_000074 44/11880 25/8012 19/3868 - - - - - - -
?/? c.1397-13_1397-12del r.(=) p.(=) g.45628286_45628287del Copied from the Exome Variant Server FANCM_000075 1959/11880 1485/8012 474/3868 - - - - - - -
?/? c.1397-13_1397-12dup r.(=) p.(=) g.45628286_45628287dup Copied from the Exome Variant Server FANCM_000076 69/11880 47/8012 22/3868 - - - - - - -
?/? c.1462A>G r.(?) p.(Ser488Gly) g.45628364A>G Copied from the Exome Variant Server FANCM_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1528G>A r.(?) p.(Gly510Ser) g.45628430G>A Copied from the Exome Variant Server FANCM_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1530C>T r.(=) p.(=) g.45628432C>T Copied from the Exome Variant Server FANCM_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1551G>A r.(=) p.(=) g.45628453G>A Copied from the Exome Variant Server FANCM_000080 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1565A>G r.(?) p.(Gln522Arg) g.45628467A>G Copied from the Exome Variant Server FANCM_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1572G>A r.(=) p.(=) g.45628474G>A Copied from the Exome Variant Server FANCM_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1576C>G r.(?) p.(Leu526Val) g.45628478C>G Copied from the Exome Variant Server FANCM_000083 12/13006 10/8600 2/4406 - - - - - - -
?/? c.1581+1G>A r.spl? p.? g.45628484G>A Copied from the Exome Variant Server FANCM_000084 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1582-51A>G r.(=) p.(=) g.45633511A>G Copied from the Exome Variant Server FANCM_000085 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1582-40A>G r.(=) p.(=) g.45633522A>G Copied from the Exome Variant Server FANCM_000086 1006/13006 905/8600 101/4406 - - - - - - -
?/? c.1582-39C>T r.(=) p.(=) g.45633523C>T Copied from the Exome Variant Server FANCM_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1597C>T r.(?) p.(Arg533Cys) g.45633577C>T Copied from the Exome Variant Server FANCM_000088 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1656_1658del r.(?) p.(Gly553del) g.45633636_45633638del Copied from the Exome Variant Server FANCM_000089 33/12516 22/8252 11/4264 - - - - - - -
?/? c.1667A>G r.(?) p.(Asp556Gly) g.45633647A>G Copied from the Exome Variant Server FANCM_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1668T>C r.(=) p.(=) g.45633648T>C Copied from the Exome Variant Server FANCM_000091 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1690C>A r.(?) p.(Gln564Lys) g.45633670C>A Copied from the Exome Variant Server FANCM_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1717C>T r.(?) p.(Arg573*) g.45633697C>T Copied from the Exome Variant Server FANCM_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1735C>T r.(?) p.(Arg579Cys) g.45633715C>T Copied from the Exome Variant Server FANCM_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1752G>A r.(=) p.(=) g.45633732G>A Copied from the Exome Variant Server FANCM_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1760T>C r.(?) p.(Ile587Thr) g.45633740T>C Copied from the Exome Variant Server FANCM_000096 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1782G>T r.(?) p.(Glu594Asp) g.45633762G>T Copied from the Exome Variant Server FANCM_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1788+19A>G r.(=) p.(=) g.45633787A>G Copied from the Exome Variant Server FANCM_000098 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1788+31del r.(=) p.(=) g.45633799del Copied from the Exome Variant Server FANCM_000099 718/12514 16/8252 702/4262 - - - - - - -
?/? c.1789-47T>C r.(=) p.(=) g.45636106T>C Copied from the Exome Variant Server FANCM_000100 1/12608 0/8420 1/4188 - - - - - - -
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