Full data view for gene NSD1

Information The variants shown are described using the NM_172349.2 transcript reference sequence.

276 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-84-33A>T r.(=) p.(=) g.176562055A>T Copied from the Exome Variant Server NSD1_000001 1/13002 0/8600 1/4402 - - - - - - -
?/? c.-84-23A>G r.(=) p.(=) g.176562065A>G Copied from the Exome Variant Server NSD1_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-75G>A r.(=) p.(=) g.176562097G>A Copied from the Exome Variant Server NSD1_000003 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-49C>A r.(=) p.(=) g.176562123C>A Copied from the Exome Variant Server NSD1_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-34T>C r.(=) p.(=) g.176562138T>C Copied from the Exome Variant Server NSD1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-25C>T r.(=) p.(=) g.176562147C>T Copied from the Exome Variant Server NSD1_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-10G>T r.(=) p.(=) g.176562162G>T Copied from the Exome Variant Server NSD1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.5C>T r.(?) p.(Pro2Leu) g.176562176C>T Copied from the Exome Variant Server NSD1_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30+16A>G r.(=) p.(=) g.176562217A>G Copied from the Exome Variant Server NSD1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30+45A>G r.(=) p.(=) g.176562246A>G Copied from the Exome Variant Server NSD1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30+158G>A r.(=) p.(=) g.176562359G>A Copied from the Exome Variant Server NSD1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.30+172C>G r.(=) p.(=) g.176562373C>G Copied from the Exome Variant Server NSD1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30+214A>T r.(=) p.(=) g.176562415A>T Copied from the Exome Variant Server NSD1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.30+242C>T r.(=) p.(=) g.176562443C>T Copied from the Exome Variant Server NSD1_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30+262G>A r.(=) p.(=) g.176562463G>A Copied from the Exome Variant Server NSD1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30+298G>C r.(=) p.(=) g.176562499G>C Copied from the Exome Variant Server NSD1_000016 2/13006 2/8600 0/4406 - - - - - - -
?/? c.31-263C>T r.(=) p.(=) g.176562679C>T Copied from the Exome Variant Server NSD1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.31-231G>A r.(=) p.(=) g.176562711G>A Copied from the Exome Variant Server NSD1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.31-172C>T r.(=) p.(=) g.176562770C>T Copied from the Exome Variant Server NSD1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.31-165C>T r.(=) p.(=) g.176562777C>T Copied from the Exome Variant Server NSD1_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.31-88_31-86del r.(=) p.(=) g.176562854_176562856del Copied from the Exome Variant Server NSD1_000021 26/12518 18/8254 8/4264 - - - - - - -
?/? c.31-83C>T r.(=) p.(=) g.176562859C>T Copied from the Exome Variant Server NSD1_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.31-78C>T r.(=) p.(=) g.176562864C>T Copied from the Exome Variant Server NSD1_000023 23/13006 0/8600 23/4406 - - - - - - -
?/? c.31-52C>T r.(=) p.(=) g.176562890C>T Copied from the Exome Variant Server NSD1_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.31-27T>C r.(=) p.(=) g.176562915T>C Copied from the Exome Variant Server NSD1_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.31-22C>A r.(=) p.(=) g.176562920C>A Copied from the Exome Variant Server NSD1_000026 2/13006 0/8600 2/4406 - - - - - - -
?/? c.39A>C r.(=) p.(=) g.176562950A>C Copied from the Exome Variant Server NSD1_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.120+48A>G r.(=) p.(=) g.176563079A>G Copied from the Exome Variant Server NSD1_000028 231/12940 204/8574 27/4366 - - - - - - -
?/? c.121-29T>C r.(=) p.(=) g.176618856T>C Copied from the Exome Variant Server NSD1_000029 2/13006 0/8600 2/4406 - - - - - - -
?/? c.256+23A>G r.(=) p.(=) g.176619043A>G Copied from the Exome Variant Server NSD1_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.256+47A>G r.(=) p.(=) g.176619067A>G Copied from the Exome Variant Server NSD1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.257-32C>G r.(=) p.(=) g.176631089C>G Copied from the Exome Variant Server NSD1_000034 6/13006 0/8600 6/4406 - - - - - - -
?/? c.273C>T r.(=) p.(=) g.176631137C>T Copied from the Exome Variant Server NSD1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.342C>T r.(=) p.(=) g.176631206C>T Copied from the Exome Variant Server NSD1_000032 23/13006 0/8600 23/4406 - - - - - - -
?/? c.346A>G r.(?) p.(Met116Val) g.176631210A>G Copied from the Exome Variant Server NSD1_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.366A>G r.(=) p.(=) g.176631230A>G Copied from the Exome Variant Server NSD1_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.465T>C r.(=) p.(=) g.176636672T>C Copied from the Exome Variant Server NSD1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.481C>G r.(?) p.(Gln161Glu) g.176636688C>G Copied from the Exome Variant Server NSD1_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.512G>A r.(?) p.(Arg171Gln) g.176636719G>A Copied from the Exome Variant Server NSD1_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.557T>C r.(?) p.(Met186Thr) g.176636764T>C Copied from the Exome Variant Server NSD1_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.607C>T r.(?) p.(Leu203Phe) g.176636814C>T Copied from the Exome Variant Server NSD1_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.660G>A r.(=) p.(=) g.176636867G>A Copied from the Exome Variant Server NSD1_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.670C>G r.(?) p.(Pro224Ala) g.176636877C>G Copied from the Exome Variant Server NSD1_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.671C>T r.(?) p.(Pro224Leu) g.176636878C>T Copied from the Exome Variant Server NSD1_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.674G>C r.(?) p.(Cys225Ser) g.176636881G>C Copied from the Exome Variant Server NSD1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.675C>T r.(=) p.(=) g.176636882C>T Copied from the Exome Variant Server NSD1_000046 4606/13006 1635/8600 2971/4406 - - - - - - -
?/? c.708T>C r.(=) p.(=) g.176636915T>C Copied from the Exome Variant Server NSD1_000047 92/13006 0/8600 92/4406 - - - - - - -
?/? c.767G>A r.(?) p.(Arg256Gln) g.176636974G>A Copied from the Exome Variant Server NSD1_000048 8/13004 0/8598 8/4406 - - - - - - -
?/? c.805A>G r.(?) p.(Ile269Val) g.176637012A>G Copied from the Exome Variant Server NSD1_000049 1/13002 0/8600 1/4402 - - - - - - -
?/? c.827C>T r.(?) p.(Thr276Met) g.176637034C>T Copied from the Exome Variant Server NSD1_000050 2/13002 2/8600 0/4402 - - - - - - -
?/? c.828G>A r.(=) p.(=) g.176637035G>A Copied from the Exome Variant Server NSD1_000051 1/13002 0/8600 1/4402 - - - - - - -
?/? c.859A>G r.(?) p.(Asn287Asp) g.176637066A>G Copied from the Exome Variant Server NSD1_000052 2/13006 0/8600 2/4406 - - - - - - -
?/? c.883G>T r.(?) p.(Ala295Ser) g.176637090G>T Copied from the Exome Variant Server NSD1_000053 59/13006 2/8600 57/4406 - - - - - - -
?/? c.884C>T r.(?) p.(Ala295Val) g.176637091C>T Copied from the Exome Variant Server NSD1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.909C>T r.(=) p.(=) g.176637116C>T Copied from the Exome Variant Server NSD1_000055 1/13000 1/8598 0/4402 - - - - - - -
?/? c.922A>T r.(?) p.(Thr308Ser) g.176637129A>T Copied from the Exome Variant Server NSD1_000056 1/13000 0/8596 1/4404 - - - - - - -
?/? c.942G>A r.(=) p.(=) g.176637149G>A Copied from the Exome Variant Server NSD1_000057 1305/12994 974/8598 331/4396 - - - - - - -
?/? c.975T>C r.(=) p.(=) g.176637182T>C Copied from the Exome Variant Server NSD1_000058 1/13000 1/8600 0/4400 - - - - - - -
?/? c.976G>A r.(?) p.(Glu326Lys) g.176637183G>A Copied from the Exome Variant Server NSD1_000059 1/13000 1/8600 0/4400 - - - - - - -
?/? c.985T>C r.(=) p.(=) g.176637192T>C Copied from the Exome Variant Server NSD1_000060 80/13000 77/8600 3/4400 - - - - - - -
?/? c.1004G>T r.(?) p.(Arg335Leu) g.176637211G>T Copied from the Exome Variant Server NSD1_000061 69/13004 0/8600 69/4404 - - - - - - -
?/? c.1022A>G r.(?) p.(Gln341Arg) g.176637229A>G Copied from the Exome Variant Server NSD1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1033G>T r.(?) p.(Val345Leu) g.176637240G>T Copied from the Exome Variant Server NSD1_000063 1292/13006 982/8600 310/4406 - - - - - - -
?/? c.1088G>A r.(?) p.(Arg363Gln) g.176637295G>A Copied from the Exome Variant Server NSD1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1124A>G r.(?) p.(Asp375Gly) g.176637331A>G Copied from the Exome Variant Server NSD1_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157G>T r.(?) p.(Ser386Ile) g.176637364G>T Copied from the Exome Variant Server NSD1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1161A>G r.(=) p.(=) g.176637368A>G Copied from the Exome Variant Server NSD1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1173C>T r.(=) p.(=) g.176637380C>T Copied from the Exome Variant Server NSD1_000068 15/13006 8/8600 7/4406 - - - - - - -
?/? c.1224T>G r.(=) p.(=) g.176637431T>G Copied from the Exome Variant Server NSD1_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1264G>A r.(?) p.(Ala422Thr) g.176637471G>A Copied from the Exome Variant Server NSD1_000070 235/13006 207/8600 28/4406 - - - - - - -
?/? c.1295A>G r.(?) p.(Lys432Arg) g.176637502A>G Copied from the Exome Variant Server NSD1_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1362C>T r.(=) p.(=) g.176637569C>T Copied from the Exome Variant Server NSD1_000072 62/13006 2/8600 60/4406 - - - - - - -
?/? c.1369T>C r.(?) p.(Ser457Pro) g.176637576T>C Copied from the Exome Variant Server NSD1_000073 1643/13006 1191/8600 452/4406 - - - - - - -
?/? c.1387G>A r.(?) p.(Asp463Asn) g.176637594G>A Copied from the Exome Variant Server NSD1_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1459A>G r.(?) p.(Asn487Asp) g.176637666A>G Copied from the Exome Variant Server NSD1_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1488C>T r.(=) p.(=) g.176637695C>T Copied from the Exome Variant Server NSD1_000076 29/13006 0/8600 29/4406 - - - - - - -
?/? c.1532C>T r.(?) p.(Ser511Leu) g.176637739C>T Copied from the Exome Variant Server NSD1_000077 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1543C>G r.(?) p.(Gln515Glu) g.176637750C>G Copied from the Exome Variant Server NSD1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1569C>G r.(?) p.(Cys523Trp) g.176637776C>G Copied from the Exome Variant Server NSD1_000079 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1580A>C r.(?) p.(Glu527Ala) g.176637787A>C Copied from the Exome Variant Server NSD1_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1592T>C r.(?) p.(Met531Thr) g.176637799T>C Copied from the Exome Variant Server NSD1_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1618G>A r.(?) p.(Glu540Lys) g.176637825G>A Copied from the Exome Variant Server NSD1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1620G>A r.(=) p.(=) g.176637827G>A Copied from the Exome Variant Server NSD1_000084 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1632A>G r.(=) p.(=) g.176637839A>G Copied from the Exome Variant Server NSD1_000275 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1643C>T r.(?) p.(Ser548Phe) g.176637850C>T Copied from the Exome Variant Server NSD1_000083 12/13006 0/8600 12/4406 - - - - - - -
?/? c.1658C>G r.(?) p.(Ser553Cys) g.176637865C>G Copied from the Exome Variant Server NSD1_000085 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1791A>G r.(=) p.(=) g.176637998A>G Copied from the Exome Variant Server NSD1_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1794C>A r.(=) p.(=) g.176638001C>A Copied from the Exome Variant Server NSD1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1833A>G r.(=) p.(=) g.176638040A>G Copied from the Exome Variant Server NSD1_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1888A>G r.(?) p.(Ile630Val) g.176638095A>G Copied from the Exome Variant Server NSD1_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1889T>C r.(?) p.(Ile630Thr) g.176638096T>C Copied from the Exome Variant Server NSD1_000090 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1939G>A r.(?) p.(Asp647Asn) g.176638146G>A Copied from the Exome Variant Server NSD1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1959G>A r.(=) p.(=) g.176638166G>A Copied from the Exome Variant Server NSD1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2020G>C r.(?) p.(Asp674His) g.176638227G>C Copied from the Exome Variant Server NSD1_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2028T>C r.(=) p.(=) g.176638235T>C Copied from the Exome Variant Server NSD1_000094 17/13006 17/8600 0/4406 - - - - - - -
?/? c.2032A>C r.(?) p.(Asn678His) g.176638239A>C Copied from the Exome Variant Server NSD1_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2060T>C r.(?) p.(Leu687Ser) g.176638267T>C Copied from the Exome Variant Server NSD1_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2140G>A r.(?) p.(Gly714Ser) g.176638347G>A Copied from the Exome Variant Server NSD1_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2161G>A r.(?) p.(Glu721Lys) g.176638368G>A Copied from the Exome Variant Server NSD1_000098 3/13006 2/8600 1/4406 - - - - - - -
?/? c.2163G>T r.(?) p.(Glu721Asp) g.176638370G>T Copied from the Exome Variant Server NSD1_000099 1/13006 0/8600 1/4406 - - - - - - -
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