Transcript #00005919

Transcript name Fanconi anemia, complementation group M
Gene name FANCM (Fanconi anemia, complementation group M)
Chromosome 14
Transcript - NCBI ID NM_020937.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_065988.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

298 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-17C>T r.(=) p.(=)
?/? c.-5G>A r.(=) p.(=)
?/? c.11G>A r.(?) p.(Arg4Gln)
?/? c.30G>A r.(=) p.(=)
?/? c.53G>A r.(?) p.(Arg18Gln)
?/? c.56C>T r.(?) p.(Ser19Leu)
?/? c.68C>A r.(?) p.(Pro23Gln)
?/? c.159C>T r.(=) p.(=)
?/? c.162T>C r.(=) p.(=)
?/? c.163G>A r.(?) p.(Asp55Asn)
?/? c.171G>C r.(?) p.(Leu57Phe)
?/? c.219_220insG r.(?) p.(Phe75Valfs*110)
?/? c.226T>C r.(?) p.(Cys76Arg)
?/? c.229A>G r.(?) p.(Thr77Ala)
?/? c.231C>T r.(=) p.(=)
?/? c.269C>T r.(?) p.(Pro90Leu)
?/? c.291C>G r.(?) p.(His97Gln)
?/? c.315C>T r.(=) p.(=)
?/? c.340G>A r.(?) p.(Gly114Arg)
?/? c.390C>T r.(=) p.(=)
?/? c.463T>C r.(?) p.(Tyr155His)
?/? c.486A>C r.(?) p.(Gln162His)
?/? c.491A>C r.(?) p.(His164Pro)
?/? c.496G>A r.(?) p.(Ala166Thr)
?/? c.504G>C r.(?) p.(Met168Ile)
?/? c.524C>T r.(?) p.(Ser175Phe)
?/? c.527C>T r.(?) p.(Thr176Ile)
?/? c.538A>G r.(?) p.(Ile180Val)
?/? c.547A>C r.(?) p.(Ser183Arg)
?/? c.601G>A r.(?) p.(Gly201Arg)
?/? c.624A>G r.(?) p.(Ile208Met)
?/? c.681+12G>A r.(=) p.(=)
?/? c.682-3A>C r.spl? p.?
?/? c.693A>G r.(=) p.(=)
?/? c.730C>T r.(=) p.(=)
?/? c.759+17_759+18insC r.(=) p.(=)
?/? c.760-21_760-18del r.(=) p.(=)
?/? c.760G>A r.(?) p.(Ala254Thr)
?/? c.775A>G r.(?) p.(Ile259Val)
?/? c.869T>C r.(?) p.(Ile290Thr)
?/? c.874C>G r.(?) p.(Pro292Ala)
?/? c.876G>A r.(=) p.(=)
?/? c.918+18C>G r.(=) p.(=)
?/? c.919-19A>G r.(=) p.(=)
?/? c.926A>C r.(?) p.(Glu309Ala)
?/? c.937C>T r.(?) p.(Arg313Cys)
?/? c.950A>G r.(?) p.(Gln317Arg)
?/? c.990A>G r.(=) p.(=)
?/? c.1040C>T r.(?) p.(Pro347Leu)
?/? c.1041G>A r.(=) p.(=)
?/? c.1043A>G r.(?) p.(Asn348Ser)
?/? c.1051-33T>C r.(=) p.(=)
?/? c.1051-12C>T r.(=) p.(=)
?/? c.1080G>A r.(=) p.(=)
?/? c.1132G>C r.(?) p.(Gly378Arg)
?/? c.1183+23A>T r.(=) p.(=)
?/? c.1183+25G>C r.(=) p.(=)
?/? c.1183+32T>C r.(=) p.(=)
?/? c.1183+39T>C r.(=) p.(=)
?/? c.1184-48A>G r.(=) p.(=)
?/? c.1222G>C r.(?) p.(Asp408His)
?/? c.1237T>C r.(?) p.(Tyr413His)
?/? c.1249G>C r.(?) p.(Glu417Gln)
?/? c.1264C>T r.(?) p.(Arg422Cys)
?/? c.1271G>A r.(?) p.(Arg424His)
?/? c.1295C>T r.(?) p.(Ser432Phe)
?/? c.1300A>C r.(?) p.(Ile434Leu)
?/? c.1309+5G>T r.spl? p.?
?/? c.1309+10T>G r.(=) p.(=)
?/? c.1310-43_1310-42insA r.(=) p.(=)
?/? c.1373T>C r.(?) p.(Ile458Thr)
?/? c.1396+10A>G r.(=) p.(=)
?/? c.1396+26G>A r.(=) p.(=)
?/? c.1397-15_1397-12del r.(=) p.(=)
?/? c.1397-13_1397-12del r.(=) p.(=)
?/? c.1397-13_1397-12dup r.(=) p.(=)
?/? c.1462A>G r.(?) p.(Ser488Gly)
?/? c.1528G>A r.(?) p.(Gly510Ser)
?/? c.1530C>T r.(=) p.(=)
?/? c.1551G>A r.(=) p.(=)
?/? c.1565A>G r.(?) p.(Gln522Arg)
?/? c.1572G>A r.(=) p.(=)
?/? c.1576C>G r.(?) p.(Leu526Val)
?/? c.1581+1G>A r.spl? p.?
?/? c.1582-51A>G r.(=) p.(=)
?/? c.1582-40A>G r.(=) p.(=)
?/? c.1582-39C>T r.(=) p.(=)
?/? c.1597C>T r.(?) p.(Arg533Cys)
?/? c.1656_1658del r.(?) p.(Gly553del)
?/? c.1667A>G r.(?) p.(Asp556Gly)
?/? c.1668T>C r.(=) p.(=)
?/? c.1690C>A r.(?) p.(Gln564Lys)
?/? c.1717C>T r.(?) p.(Arg573*)
?/? c.1735C>T r.(?) p.(Arg579Cys)
?/? c.1752G>A r.(=) p.(=)
?/? c.1760T>C r.(?) p.(Ile587Thr)
?/? c.1782G>T r.(?) p.(Glu594Asp)
?/? c.1788+19A>G r.(=) p.(=)
?/? c.1788+31del r.(=) p.(=)
?/? c.1789-47T>C r.(=) p.(=)
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