Unique variants in gene FANCM

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

120 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-30T>C r.(=) p.(=) g.45605205T>C - FANCM_000061 - - - - Despoina Kalfakakou
./. 2 - c.53G>A r.(?) p.(Arg18Gln) g.45605287G>A - FANCM_000033 - - - - Despoina Kalfakakou
./. 1 - c.163G>A r.(?) p.(Asp55Asn) g.45605397G>A - FANCM_000087 - - - - Despoina Kalfakakou
./. 2 - c.171G>C r.(?) p.(Leu57Phe) g.45605405G>C - FANCM_000034 - - - - Despoina Kalfakakou
./. 1 - c.231C>T r.(=) p.(=) g.45605465C>T - FANCM_000060 - - - - Despoina Kalfakakou
./. 1 - c.235G>C r.(?) p.(Ala79Pro) g.45605469G>C - FANCM_000073 - - - - Despoina Kalfakakou
./. 1 - c.269C>T r.(?) p.(Pro90Leu) g.45605503C>T - FANCM_000102 - - - - Despoina Kalfakakou
./. 1 - c.346G>C r.(?) p.(Gly116Arg) g.45605580G>C - FANCM_000069 - - - - Despoina Kalfakakou
./. 1 - c.438G>A r.(=) p.(=) g.45605672G>A - FANCM_000082 - - - - Despoina Kalfakakou
./. 1 - c.454G>T r.(?) p.(Glu152*) g.45605688G>T - FANCM_000059 - - - - Despoina Kalfakakou
./. 1 - c.455A>T r.(?) p.(Glu152Val) g.45605689A>T - FANCM_000052 - - - - Despoina Kalfakakou
./. 23 - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. 1 - c.547A>C r.(?) p.(Ser183Arg) g.45606310A>C - FANCM_000089 - - - - Despoina Kalfakakou
./. 1 - c.637A>G r.(?) p.(Ile213Val) g.45606400A>G - FANCM_000070 - - - - Despoina Kalfakakou
./. 1 - c.682-49T>C r.(=) p.(=) g.45609786T>C - FANCM_000077 - - - - Despoina Kalfakakou
./. 1 - c.693A>G r.(=) p.(=) g.45609846A>G - FANCM_000113 - - - - Despoina Kalfakakou
./. 1 - c.760-38C>T r.(=) p.(=) g.45618002C>T - FANCM_000114 - - - - Despoina Kalfakakou
./. 1 - c.950A>G r.(?) p.(Gln317Arg) g.45620631A>G - FANCM_000012 - - - - Despoina Kalfakakou
./. 1 - c.1051-48A>C r.(=) p.(=) g.45623075A>C - FANCM_000080 - - - - Despoina Kalfakakou
./. 1 - c.1054A>C r.(?) p.(Ile352Leu) g.45623126A>C - FANCM_000053 - - - - Despoina Kalfakakou
./. 1 - c.1097G>A r.(?) p.(Ser366Asn) g.45623169G>A - FANCM_000103 - - - - Despoina Kalfakakou
./. 2 - c.1159T>G r.(?) p.(Cys387Gly) g.45623231T>G - FANCM_000013 - - - - Despoina Kalfakakou
./. 3 - c.1184-49T>G r.(=) p.(=) g.45623851T>G - FANCM_000014 - - - - Despoina Kalfakakou
./. 7 - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. 2 - c.1221A>G r.(=) p.(=) g.45623937A>G - FANCM_000063 - - - - Despoina Kalfakakou
./. 8 - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. 1 - c.1309+47C>G r.(=) p.(=) g.45624072C>G - FANCM_000088 - - - - Despoina Kalfakakou
./. 4 - c.1310-26A>G r.(=) p.(=) g.45624550A>G - FANCM_000003 - - - - Despoina Kalfakakou
./. 2 - c.1397-16_1397-15insTA r.spl? p.? g.45628283_45628284insTA - FANCM_000085 - - - - Despoina Kalfakakou
./. 1 - c.1490C>T r.(?) p.(Ser497Leu) g.45628392C>T - FANCM_000039 - - - - Despoina Kalfakakou
./. 1 - c.1567A>G r.(?) p.(Lys523Glu) g.45628469A>G - FANCM_000090 - - - - Despoina Kalfakakou
./. 2 - c.1576C>G r.(?) p.(Leu526Val) g.45628478C>G - FANCM_000116 - - - - Despoina Kalfakakou
./. 1 - c.1597C>T r.(?) p.(Arg533Cys) g.45633577C>T - FANCM_000075 - - - - Despoina Kalfakakou
./. 1 - c.1641A>G r.(=) p.(=) g.45633621A>G - FANCM_000098 - - - - Despoina Kalfakakou
./. 2 - c.1667A>G r.(?) p.(Asp556Gly) g.45633647A>G - FANCM_000091 - - - - Despoina Kalfakakou
./. 1 - c.1760T>C r.(?) p.(Ile587Thr) g.45633740T>C - FANCM_000099 - - - - Despoina Kalfakakou
./. 1 - c.1784A>C r.(?) p.(Glu595Ala) g.45633764A>C - FANCM_000046 - - - - Despoina Kalfakakou
./. 1 - c.1789-12T>A r.(=) p.(=) g.45636141T>A - FANCM_000054 - - - - Despoina Kalfakakou
./. 1 - c.1809C>A r.(=) p.(=) g.45636173C>A - FANCM_000048 - - - - Despoina Kalfakakou
./. 1 - c.1814A>G r.(?) p.(Lys605Arg) g.45636178A>G - FANCM_000015 - - - - Despoina Kalfakakou
./. 8 - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. 3 - c.1972C>T r.(?) p.(Arg658*) g.45636336C>T - FANCM_000016 - - - - Despoina Kalfakakou
./. 1 - c.1984A>G r.(?) p.(Ile662Val) g.45636348A>G - FANCM_000118 - - - - Despoina Kalfakakou
./. 1 - c.2002+25A>G r.(=) p.(=) g.45636391A>G - FANCM_000086 - - - - Despoina Kalfakakou
./. 1 - c.2086G>T r.(?) p.(Asp696Tyr) g.45639875G>T - FANCM_000045 - - - - Despoina Kalfakakou
./. 4 - c.2160+28del r.(=) p.(=) g.45639977del - FANCM_000094 - - - - Despoina Kalfakakou
./. 3 - c.2160+29T>G r.(=) p.(=) g.45639978T>G - FANCM_000049 - - - - Despoina Kalfakakou
./. 5 - c.2160+31T>C r.(=) p.(=) g.45639980T>C - FANCM_000017 rs76620062 - - - Despoina Kalfakakou
./. 3 - c.2160+32del r.(=) p.(=) g.45639981del - FANCM_000064 - - - - Despoina Kalfakakou
./. 1 - c.2227C>T r.(?) p.(Pro743Ser) g.45642324C>T - FANCM_000065 - - - - Despoina Kalfakakou
./. 1 - c.2316+46T>C r.(=) p.(=) g.45642459T>C - FANCM_000018 - - - - Despoina Kalfakakou
./. 3 - c.2392A>G r.(?) p.(Arg798Gly) g.45644349A>G - FANCM_000019 - - - - Despoina Kalfakakou
./. 1 - c.2445G>A r.(=) p.(=) g.45644402G>A - FANCM_000104 rs61745871 - - - Despoina Kalfakakou
./. 1 - c.2721T>G r.(=) p.(=) g.45644678T>G - FANCM_000020 - - - - Despoina Kalfakakou
./. 1 - c.2734A>G r.(?) p.(Ile912Val) g.45644691A>G - FANCM_000092 rs45568842 - - - Despoina Kalfakakou
./. 1 - c.2760G>A r.(=) p.(=) g.45644717G>A - FANCM_000055 - - - - Despoina Kalfakakou
./. 1 - c.2789C>T r.(?) p.(Thr930Ile) g.45644746C>T - FANCM_000056 - - - - Despoina Kalfakakou
./. 13 - c.2859A>C r.(?) p.(Lys953Asn) g.45644816A>C - FANCM_000001 - - - - Despoina Kalfakakou
./. 2 - c.2890G>A r.(?) p.(Glu964Lys) g.45644847G>A - FANCM_000066 - - - - Despoina Kalfakakou
./. 3 - c.2903A>G r.(?) p.(Tyr968Cys) g.45644860A>G - FANCM_000021 - - - - Despoina Kalfakakou
./. 1 - c.2997G>A r.(=) p.(=) g.45644954G>A - FANCM_000022 - - - - Despoina Kalfakakou
./. 1 - c.3040G>T r.(?) p.(Gly1014Cys) g.45644997G>T - FANCM_000023 rs77532752 - - - Despoina Kalfakakou
./. 2 - c.3049C>T r.(?) p.(Leu1017Phe) g.45645006C>T - FANCM_000043 - - - - Despoina Kalfakakou
./. 2 - c.3296G>A r.(?) p.(Arg1099His) g.45645253G>A - FANCM_000083 - - - - Despoina Kalfakakou
./. 3 - c.3407T>C r.(?) p.(Leu1136Ser) g.45645364T>C - FANCM_000042 - - - - Despoina Kalfakakou
./. 2 - c.3452C>T r.(?) p.(Pro1151Leu) g.45645409C>T - FANCM_000037 - - - - Despoina Kalfakakou
./. 3 - c.3510G>A r.(=) p.(=) g.45645467G>A - FANCM_000024 - - - - Despoina Kalfakakou
./. 1 - c.3753T>C r.(=) p.(=) g.45645710T>C - FANCM_000005 - - - - Despoina Kalfakakou
./. 1 - c.3828G>A r.(=) p.(=) g.45645785G>A - FANCM_000067 - - - - Despoina Kalfakakou
./. 1 - c.3884T>C r.(?) p.(Ile1295Thr) g.45645841T>C - FANCM_000108 - - - - Despoina Kalfakakou
./. 8 - c.3992C>T r.(?) p.(Pro1331Leu) g.45645949C>T - FANCM_000050 - - - - Despoina Kalfakakou
./. 1 - c.4047A>G r.(=) p.(=) g.45646004A>G - FANCM_000093 - - - - Despoina Kalfakakou
./. 1 - c.4096G>A r.(?) p.(Glu1366Lys) g.45646053G>A - FANCM_000100 - - - - Despoina Kalfakakou
./. 1 - c.4168A>C r.(?) p.(Lys1390Gln) g.45646125A>C - FANCM_000111 - - - - Despoina Kalfakakou
./. 1 - c.4222+48C>A r.(=) p.(=) g.45646227C>A - FANCM_000025 - - - - Despoina Kalfakakou
./. 1 - c.4223-29C>G r.(=) p.(=) g.45650604C>G - FANCM_000117 - - - - Despoina Kalfakakou
./. 7 - c.4223-4A>G r.spl? p.? g.45650629A>G - FANCM_000026 - - - - Despoina Kalfakakou
./. 6 - c.4317+24A>C r.(=) p.(=) g.45650751A>C - FANCM_000027 - - - - Despoina Kalfakakou
./. 18 - c.4366C>T r.(?) p.(Arg1456Cys) g.45650888C>T - FANCM_000006 - - - - Despoina Kalfakakou
./. 3 - c.4386+1G>A r.spl? p.? g.45650909G>A - FANCM_000041 - - - - Despoina Kalfakakou
./. 1 - c.4386+2T>G r.spl? p.? g.45650910T>G - FANCM_000112 - - - - Despoina Kalfakakou
./. 1 - c.4387-42A>G r.(=) p.(=) g.45652935A>G - FANCM_000119 - - - - Despoina Kalfakakou
./. 1 - c.4387-40T>G r.(=) p.(=) g.45652937T>G - FANCM_000105 - - - - Despoina Kalfakakou
./. 3 - c.4387-27T>C r.(=) p.(=) g.45652950T>C - FANCM_000040 - - - - Despoina Kalfakakou
./. 1 - c.4387-7A>G r.(=) p.(=) g.45652970A>G - FANCM_000096 - - - - Despoina Kalfakakou
./. 1 - c.4410G>A r.(=) p.(=) g.45653000G>A - FANCM_000072 - - - - Despoina Kalfakakou
./. 1 - c.4501C>G r.(?) p.(Gln1501Glu) g.45653091C>G - FANCM_000079 - - - - Despoina Kalfakakou
./. 1 - c.4556C>A r.(?) p.(Ser1519Tyr) g.45654460C>A - FANCM_000084 - - - - Despoina Kalfakakou
./. 1 - c.4563A>C r.(?) p.(Glu1521Asp) g.45654467A>C - FANCM_000028 - - - - Despoina Kalfakakou
./. 1 - c.4612C>G r.(?) p.(Gln1538Glu) g.45654516C>G - FANCM_000007 - - - - Despoina Kalfakakou
./. 5 - c.4627C>T r.(?) p.(Leu1543Phe) g.45654531C>T - FANCM_000008 - - - - Despoina Kalfakakou
./. 1 - c.4672+6T>C r.(=) p.(=) g.45654582T>C - FANCM_000009 - - - - Despoina Kalfakakou
./. 1 - c.4672+22A>T r.(=) p.(=) g.45654598A>T - FANCM_000038 - - - - Despoina Kalfakakou
./. 1 - c.4672+28T>C r.(=) p.(=) g.45654604T>C - FANCM_000106 - - - - Despoina Kalfakakou
./. 3 - c.4812T>C r.(=) p.(=) g.45658037T>C - FANCM_000036 - - - - Despoina Kalfakakou
./. 1 - c.4843A>T r.(?) p.(Lys1615*) g.45658068A>T - FANCM_000057 - - - - Despoina Kalfakakou
./. 3 - c.4858_4860del r.(?) p.(Glu1622del) g.45658083_45658085del - FANCM_000051 - - - - Despoina Kalfakakou
./. 1 - c.4933C>T r.(?) p.(Arg1645Cys) g.45658158C>T - FANCM_000110 - - - - Despoina Kalfakakou
./. 1 - c.5040A>G r.(=) p.(=) g.45658265A>G - FANCM_000035 - - - - Despoina Kalfakakou
./. 1 - c.5067G>A r.(=) p.(=) g.45658292G>A - FANCM_000097 - - - - Despoina Kalfakakou
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