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Samples with Characterized Mutations
Records Return:  (30)

12
Catalog IDCell TypeIntron/ExonNucleotide
Change
Nucleotide
Number
Codon
Change
Codon
Number
ConsequenceMutation
GM23308Fibroblast A>T2386K>X796K796XLYS796TER
GM23308Fibroblast6C>G856-3   IVS6-3C>G
GM23330Fibroblast29G>A1823-8   1823-8G>A
GM23681B-Lymphocyte C>T1552P>S518P518SPRO518SER
GM23681B-Lymphocyte G>A901G>S301G301SGLY301SER
GM23735B-Lymphocyte      Ex9 del
GM23782B-Lymphocyte9A>G955-2CAG>CGG319_333GLY319_LYS333DEL955-2A>G
GM24221B-Lymphocyte G>A    877G>A
GM24231B-Lymphocyte      1770+1delG
GM24231B-Lymphocyte      ARG784HIS
GM24232B-Lymphocyte A>T2386K>X796K796XLYS796TER
GM24232B-Lymphocyte6C>G856-3   IVS6-3C>G
GM24240B-Lymphocyte18A>G    c.6310-2A>G
GM24259Fibroblast G>A1002+1   1002+1G>A
GM24384Fibroblast G>A1182+3   1182+3G>A
GM24384Fibroblast C>G1814   1814-6C>G
GM24384Fibroblast G>A850GLY>ARG284 850G>A
GM24391B-Lymphocyte      c.5044delC
GM24391B-Lymphocyte G>T    c.7066G>T
GM24405Fibroblast12  G>A  957+1G>A

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