All transcript variants in gene NSD1

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

200 entries on 2 pages. Showing entries 1 - 100.
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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.-5del r.(=) p.(=) g.176562167del - NSD1_000083 - - - - Despoina Kalfakakou
./. - c.39A>C r.(=) p.(=) g.176562950A>C - NSD1_000098 - - - - Despoina Kalfakakou
./. - c.54T>C r.(=) p.(=) g.176562965T>C - NSD1_000088 - - - - Despoina Kalfakakou
./. - c.120+30A>G r.(=) p.(=) g.176563061A>G - NSD1_000072 - - - - Despoina Kalfakakou
./. - c.121-21C>T r.(=) p.(=) g.176618864C>T - NSD1_000023 - - - - Despoina Kalfakakou
./. - c.121-21C>T r.(=) p.(=) g.176618864C>T - NSD1_000023 - - - - Despoina Kalfakakou
./. - c.140C>A r.(?) p.(Ser47Tyr) g.176618904C>A - NSD1_000028 - - - - Despoina Kalfakakou
./. - c.273C>T r.(=) p.(=) g.176631137C>T - NSD1_000073 - - - - Despoina Kalfakakou
./. - c.304G>A r.(?) p.(Asp102Asn) g.176631168G>A - NSD1_000029 - - - - Despoina Kalfakakou
./. - c.352G>C r.(?) p.(Glu118Gln) g.176631216G>C - NSD1_000053 - - - - Despoina Kalfakakou
./. - c.430-51C>G r.(=) p.(=) g.176636586C>G - NSD1_000044 - - - - Despoina Kalfakakou
./. - c.430-40C>T r.(=) p.(=) g.176636597C>T - NSD1_000052 - - - - Despoina Kalfakakou
./. - c.575C>T r.(?) p.(Thr192Ile) g.176636782C>T - NSD1_000048 - - - - Despoina Kalfakakou
./. - c.647A>C r.(?) p.(His216Pro) g.176636854A>C - NSD1_000100 - - - - Despoina Kalfakakou
./. - c.714A>C r.(?) p.(Lys238Asn) g.176636921A>C - NSD1_000082 - - - - Despoina Kalfakakou
./. - c.748G>A r.(?) p.(Glu250Lys) g.176636955G>A - NSD1_000043 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.751G>A r.(?) p.(Ala251Thr) g.176636958G>A - NSD1_000038 - - - - Despoina Kalfakakou
./. - c.839A>C r.(?) p.(Asn280Thr) g.176637046A>C - NSD1_000024 - - - - Despoina Kalfakakou
./. - c.975T>C r.(=) p.(=) g.176637182T>C - NSD1_000081 - - - - Despoina Kalfakakou
./. - c.997T>C r.(?) p.(Cys333Arg) g.176637204T>C - NSD1_000091 - - - - Despoina Kalfakakou
./. - c.1004G>T r.(?) p.(Arg335Leu) g.176637211G>T - NSD1_000047 rs61744451 - - - Despoina Kalfakakou
./. - c.1004G>T r.(?) p.(Arg335Leu) g.176637211G>T - NSD1_000047 rs61744451 - - - Despoina Kalfakakou
./. - c.1088G>A r.(?) p.(Arg363Gln) g.176637295G>A - NSD1_000097 - - - - Despoina Kalfakakou
./. - c.1153C>A r.(?) p.(His385Asn) g.176637360C>A - NSD1_000089 - - - - Despoina Kalfakakou
./. - c.1266C>T r.(=) p.(=) g.176637473C>T - NSD1_000022 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1284A>G r.(=) p.(=) g.176637491A>G - NSD1_000039 - - - - Despoina Kalfakakou
./. - c.1367C>G r.(?) p.(Thr456Arg) g.176637574C>G - NSD1_000027 - - - - Despoina Kalfakakou
./. - c.1453A>G r.(?) p.(Lys485Glu) g.176637660A>G - NSD1_000015 - - - - Despoina Kalfakakou
./. - c.1453A>G r.(?) p.(Lys485Glu) g.176637660A>G - NSD1_000015 - - - - Despoina Kalfakakou
./. - c.1489T>G r.(?) p.(Ser497Ala) g.176637696T>G - NSD1_000096 - - - - Despoina Kalfakakou
./. - c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T - NSD1_000051 - - - - Despoina Kalfakakou
./. - c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T - NSD1_000051 - - - - Despoina Kalfakakou
./. - c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T - NSD1_000051 - - - - Despoina Kalfakakou
./. - c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T - NSD1_000051 - - - - Despoina Kalfakakou
./. - c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T - NSD1_000051 - - - - Despoina Kalfakakou
./. - c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T - NSD1_000051 - - - - Despoina Kalfakakou
./. - c.1597G>A r.(?) p.(Glu533Lys) g.176637804G>A - NSD1_000040 - - - - Despoina Kalfakakou
./. - c.2015G>A r.(?) p.(Arg672His) g.176638222G>A - NSD1_000079 - - - - Despoina Kalfakakou
./. - c.2028T>C r.(=) p.(=) g.176638235T>C - NSD1_000004 - - - - Despoina Kalfakakou
./. - c.2028T>C r.(=) p.(=) g.176638235T>C - NSD1_000004 - - - - Despoina Kalfakakou
./. - c.2028T>C r.(=) p.(=) g.176638235T>C - NSD1_000004 - - - - Despoina Kalfakakou
./. - c.2107A>G r.(?) p.(Thr703Ala) g.176638314A>G - NSD1_000080 - - - - Despoina Kalfakakou
./. - c.2250C>A r.(=) p.(=) g.176638457C>A - NSD1_000064 - - - - Despoina Kalfakakou
./. - c.2281T>C r.(=) p.(=) g.176638488T>C - NSD1_000085 rs61756006 - - - Despoina Kalfakakou
./. - c.2281T>C r.(=) p.(=) g.176638488T>C - NSD1_000085 rs61756006 - - - Despoina Kalfakakou
./. - c.2285G>A r.(?) p.(Arg762Gln) g.176638492G>A - NSD1_000046 - - - - Despoina Kalfakakou
./. - c.2479C>T r.(?) p.(His827Tyr) g.176638686C>T - NSD1_000016 - - - - Despoina Kalfakakou
./. - c.2479C>T r.(?) p.(His827Tyr) g.176638686C>T - NSD1_000016 - - - - Despoina Kalfakakou
./. - c.2479C>T r.(?) p.(His827Tyr) g.176638686C>T - NSD1_000016 - - - - Despoina Kalfakakou
./. - c.2479C>T r.(?) p.(His827Tyr) g.176638686C>T - NSD1_000016 - - - - Despoina Kalfakakou
./. - c.2479C>T r.(?) p.(His827Tyr) g.176638686C>T - NSD1_000016 - - - - Despoina Kalfakakou
./. - c.2523C>T r.(=) p.(=) g.176638730C>T - NSD1_000030 - - - - Despoina Kalfakakou
./. - c.2523C>T r.(=) p.(=) g.176638730C>T - NSD1_000030 - - - - Despoina Kalfakakou
./. - c.2523C>T r.(=) p.(=) g.176638730C>T - NSD1_000030 - - - - Despoina Kalfakakou
./. - c.2523C>T r.(=) p.(=) g.176638730C>T - NSD1_000030 - - - - Despoina Kalfakakou
./. - c.2523C>T r.(=) p.(=) g.176638730C>T - NSD1_000030 - - - - Despoina Kalfakakou
./. - c.2595C>T r.(=) p.(=) g.176638802C>T - NSD1_000084 - - - - Despoina Kalfakakou
./. - c.2693G>A r.(?) p.(Arg898His) g.176638900G>A - NSD1_000054 - - - - Despoina Kalfakakou
./. - c.2693G>A r.(?) p.(Arg898His) g.176638900G>A - NSD1_000054 - - - - Despoina Kalfakakou
./. - c.2737A>T r.(?) p.(Asn913Tyr) g.176638944A>T - NSD1_000075 - - - - Despoina Kalfakakou
./. - c.2855A>G r.(?) p.(Gln952Arg) g.176639062A>G - NSD1_000041 - - - - Despoina Kalfakakou
./. - c.2917G>A r.(?) p.(Ala973Thr) g.176639124G>A - NSD1_000095 - - - - Despoina Kalfakakou
./. - c.2932A>G r.(?) p.(Met978Val) g.176639139A>G - NSD1_000005 - - - - Despoina Kalfakakou
./. - c.3496-10T>C r.(=) p.(=) g.176671186T>C - NSD1_000055 - - - - Despoina Kalfakakou
./. - c.3496-8A>G r.(=) p.(=) g.176671188A>G - NSD1_000042 - - - - Despoina Kalfakakou
./. - c.3496-8A>G r.(=) p.(=) g.176671188A>G - NSD1_000042 - - - - Despoina Kalfakakou
./. - c.3496-8A>G r.(=) p.(=) g.176671188A>G - NSD1_000042 - - - - Despoina Kalfakakou
./. - c.3496-8A>G r.(=) p.(=) g.176671188A>G - NSD1_000042 - - - - Despoina Kalfakakou
./. - c.3521A>G r.(?) p.(Asn1174Ser) g.176671221A>G - NSD1_000017 - - - - Despoina Kalfakakou
./. - c.3521A>G r.(?) p.(Asn1174Ser) g.176671221A>G - NSD1_000017 - - - - Despoina Kalfakakou
./. - c.3521A>G r.(?) p.(Asn1174Ser) g.176671221A>G - NSD1_000017 - - - - Despoina Kalfakakou
./. - c.3521A>G r.(?) p.(Asn1174Ser) g.176671221A>G - NSD1_000017 - - - - Despoina Kalfakakou
./. - c.3521A>G r.(?) p.(Asn1174Ser) g.176671221A>G - NSD1_000017 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
./. - c.3571+26C>T r.(=) p.(=) g.176671297C>T - NSD1_000018 - - - - Despoina Kalfakakou
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