All transcript variants in gene FANCM

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

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

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-30T>C r.(=) p.(=) g.45605205T>C - FANCM_000061 - - - - Despoina Kalfakakou
./. - c.53G>A r.(?) p.(Arg18Gln) g.45605287G>A - FANCM_000033 - - - - Despoina Kalfakakou
./. - c.53G>A r.(?) p.(Arg18Gln) g.45605287G>A - FANCM_000033 - - - - Despoina Kalfakakou
./. - c.163G>A r.(?) p.(Asp55Asn) g.45605397G>A - FANCM_000087 - - - - Despoina Kalfakakou
./. - c.171G>C r.(?) p.(Leu57Phe) g.45605405G>C - FANCM_000034 - - - - Despoina Kalfakakou
./. - c.171G>C r.(?) p.(Leu57Phe) g.45605405G>C - FANCM_000034 - - - - Despoina Kalfakakou
./. - c.231C>T r.(=) p.(=) g.45605465C>T - FANCM_000060 - - - - Despoina Kalfakakou
./. - c.235G>C r.(?) p.(Ala79Pro) g.45605469G>C - FANCM_000073 - - - - Despoina Kalfakakou
./. - c.269C>T r.(?) p.(Pro90Leu) g.45605503C>T - FANCM_000102 - - - - Despoina Kalfakakou
./. - c.346G>C r.(?) p.(Gly116Arg) g.45605580G>C - FANCM_000069 - - - - Despoina Kalfakakou
./. - c.438G>A r.(=) p.(=) g.45605672G>A - FANCM_000082 - - - - Despoina Kalfakakou
./. - c.454G>T r.(?) p.(Glu152*) g.45605688G>T - FANCM_000059 - - - - Despoina Kalfakakou
./. - c.455A>T r.(?) p.(Glu152Val) g.45605689A>T - FANCM_000052 - - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.527C>T r.(?) p.(Thr176Ile) g.45606290C>T - FANCM_000011 rs77374493 - - - Despoina Kalfakakou
./. - c.547A>C r.(?) p.(Ser183Arg) g.45606310A>C - FANCM_000089 - - - - Despoina Kalfakakou
./. - c.637A>G r.(?) p.(Ile213Val) g.45606400A>G - FANCM_000070 - - - - Despoina Kalfakakou
./. - c.682-49T>C r.(=) p.(=) g.45609786T>C - FANCM_000077 - - - - Despoina Kalfakakou
./. - c.693A>G r.(=) p.(=) g.45609846A>G - FANCM_000113 - - - - Despoina Kalfakakou
./. - c.760-38C>T r.(=) p.(=) g.45618002C>T - FANCM_000114 - - - - Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Gln317Arg) g.45620631A>G - FANCM_000012 - - - - Despoina Kalfakakou
./. - c.1051-48A>C r.(=) p.(=) g.45623075A>C - FANCM_000080 - - - - Despoina Kalfakakou
./. - c.1054A>C r.(?) p.(Ile352Leu) g.45623126A>C - FANCM_000053 - - - - Despoina Kalfakakou
./. - c.1097G>A r.(?) p.(Ser366Asn) g.45623169G>A - FANCM_000103 - - - - Despoina Kalfakakou
./. - c.1159T>G r.(?) p.(Cys387Gly) g.45623231T>G - FANCM_000013 - - - - Despoina Kalfakakou
./. - c.1159T>G r.(?) p.(Cys387Gly) g.45623231T>G - FANCM_000013 - - - - Despoina Kalfakakou
./. - c.1184-49T>G r.(=) p.(=) g.45623851T>G - FANCM_000014 - - - - Despoina Kalfakakou
./. - c.1184-49T>G r.(=) p.(=) g.45623851T>G - FANCM_000014 - - - - Despoina Kalfakakou
./. - c.1184-49T>G r.(=) p.(=) g.45623851T>G - FANCM_000014 - - - - Despoina Kalfakakou
./. - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. - c.1184-48A>G r.(=) p.(=) g.45623852A>G - FANCM_000062 - - - - Despoina Kalfakakou
./. - c.1221A>G r.(=) p.(=) g.45623937A>G - FANCM_000063 - - - - Despoina Kalfakakou
./. - c.1221A>G r.(=) p.(=) g.45623937A>G - FANCM_000063 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+25G>A r.(=) p.(=) g.45624050G>A - FANCM_000002 - - - - Despoina Kalfakakou
./. - c.1309+47C>G r.(=) p.(=) g.45624072C>G - FANCM_000088 - - - - Despoina Kalfakakou
./. - c.1310-26A>G r.(=) p.(=) g.45624550A>G - FANCM_000003 - - - - Despoina Kalfakakou
./. - c.1310-26A>G r.(=) p.(=) g.45624550A>G - FANCM_000003 - - - - Despoina Kalfakakou
./. - c.1310-26A>G r.(=) p.(=) g.45624550A>G - FANCM_000003 - - - - Despoina Kalfakakou
./. - c.1310-26A>G r.(=) p.(=) g.45624550A>G - FANCM_000003 - - - - Despoina Kalfakakou
./. - c.1397-16_1397-15insTA r.spl? p.? g.45628283_45628284insTA - FANCM_000085 - - - - Despoina Kalfakakou
./. - c.1397-16_1397-15insTA r.spl? p.? g.45628283_45628284insTA - FANCM_000085 - - - - Despoina Kalfakakou
./. - c.1490C>T r.(?) p.(Ser497Leu) g.45628392C>T - FANCM_000039 - - - - Despoina Kalfakakou
./. - c.1567A>G r.(?) p.(Lys523Glu) g.45628469A>G - FANCM_000090 - - - - Despoina Kalfakakou
./. - c.1576C>G r.(?) p.(Leu526Val) g.45628478C>G - FANCM_000116 - - - - Despoina Kalfakakou
./. - c.1576C>G r.(?) p.(Leu526Val) g.45628478C>G - FANCM_000116 - - - - Despoina Kalfakakou
./. - c.1597C>T r.(?) p.(Arg533Cys) g.45633577C>T - FANCM_000075 - - - - Despoina Kalfakakou
./. - c.1641A>G r.(=) p.(=) g.45633621A>G - FANCM_000098 - - - - Despoina Kalfakakou
./. - c.1667A>G r.(?) p.(Asp556Gly) g.45633647A>G - FANCM_000091 - - - - Despoina Kalfakakou
./. - c.1667A>G r.(?) p.(Asp556Gly) g.45633647A>G - FANCM_000091 - - - - Despoina Kalfakakou
./. - c.1760T>C r.(?) p.(Ile587Thr) g.45633740T>C - FANCM_000099 - - - - Despoina Kalfakakou
./. - c.1784A>C r.(?) p.(Glu595Ala) g.45633764A>C - FANCM_000046 - - - - Despoina Kalfakakou
./. - c.1789-12T>A r.(=) p.(=) g.45636141T>A - FANCM_000054 - - - - Despoina Kalfakakou
./. - c.1809C>A r.(=) p.(=) g.45636173C>A - FANCM_000048 - - - - Despoina Kalfakakou
./. - c.1814A>G r.(?) p.(Lys605Arg) g.45636178A>G - FANCM_000015 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1846A>G r.(?) p.(Arg616Gly) g.45636210A>G - FANCM_000004 - - - - Despoina Kalfakakou
./. - c.1972C>T r.(?) p.(Arg658*) g.45636336C>T - FANCM_000016 - - - - Despoina Kalfakakou
./. - c.1972C>T r.(?) p.(Arg658*) g.45636336C>T - FANCM_000016 - - - - Despoina Kalfakakou
./. - c.1972C>T r.(?) p.(Arg658*) g.45636336C>T - FANCM_000016 - - - - Despoina Kalfakakou
./. - c.1984A>G r.(?) p.(Ile662Val) g.45636348A>G - FANCM_000118 - - - - Despoina Kalfakakou
./. - c.2002+25A>G r.(=) p.(=) g.45636391A>G - FANCM_000086 - - - - Despoina Kalfakakou
Legend   « First ‹ Prev     1 2 3     Next › Last »