Unique variants in gene CDKN2A

Information The variants shown are described using the NM_000077.4 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-2G>A r.(=) p.(=) g.21974828C>T Copied from the Exome Variant Server CDKN2A_000048 2/10784 1/7212 1/3572
1 c.50_54del r.(?) p.(Ala17Glyfs*25) g.21974773_21974777del Copied from the Exome Variant Server CDKN2A_000047 76/9436 52/6404 24/3032
1 c.122C>A r.(?) p.(Pro41Gln) g.21974705G>T Copied from the Exome Variant Server CDKN2A_000046 1/12998 1/8596 0/4402
1 c.150+21G>A r.(=) p.(=) g.21974656C>T Copied from the Exome Variant Server CDKN2A_000045 1/13006 0/8600 1/4406
1 c.150+34G>A r.(=) p.(=) g.21974643C>T Copied from the Exome Variant Server CDKN2A_000044 1/13006 0/8600 1/4406
1 c.150+37G>C r.(=) p.(=) g.21974640C>G Copied from the Exome Variant Server CDKN2A_000043 38/13006 32/8600 6/4406
1 c.150+45C>A r.(=) p.(=) g.21974632G>T Copied from the Exome Variant Server CDKN2A_000042 1/13006 1/8600 0/4406
1 c.150+46T>A r.(=) p.(=) g.21974631A>T Copied from the Exome Variant Server CDKN2A_000041 1/13006 1/8600 0/4406
1 c.150+153T>A r.(=) p.(=) g.21974524A>T Copied from the Exome Variant Server CDKN2A_000040 36/13006 0/8600 36/4406
1 c.150+155C>T r.(=) p.(=) g.21974522G>A Copied from the Exome Variant Server CDKN2A_000039 1/13006 0/8600 1/4406
1 c.150+194A>G r.(=) p.(=) g.21974483T>C Copied from the Exome Variant Server CDKN2A_000038 1/13006 1/8600 0/4406
1 c.150+198A>T r.(=) p.(=) g.21974479T>A Copied from the Exome Variant Server CDKN2A_000037 1/13006 0/8600 1/4406
1 c.150+209C>T r.(=) p.(=) g.21974468G>A Copied from the Exome Variant Server CDKN2A_000036 1/13006 0/8600 1/4406
1 c.150+214del r.(=) p.(=) g.21974463del Copied from the Exome Variant Server CDKN2A_000035 110/12518 3/8254 107/4264
1 c.150+216A>G r.(=) p.(=) g.21974461T>C Copied from the Exome Variant Server CDKN2A_000034 37/13002 0/8600 37/4402
1 c.150+216_150+218del r.(=) p.(=) g.21974459_21974461del Copied from the Exome Variant Server CDKN2A_000033 109/12516 3/8254 106/4262
1 c.150+217_150+226del r.(=) p.(=) g.21974451_21974460del Copied from the Exome Variant Server CDKN2A_000032 113/12518 3/8254 110/4264
1 c.150+239G>T r.(=) p.(=) g.21974438C>A Copied from the Exome Variant Server CDKN2A_000031 32/13006 0/8600 32/4406
1 c.170C>T r.(?) p.(Ala57Val) g.21971188G>A Copied from the Exome Variant Server CDKN2A_000030 1/12310 1/8212 0/4098
1 c.174A>C r.(=) p.(=) g.21971184T>G Copied from the Exome Variant Server CDKN2A_000029 25/12212 0/8162 25/4050
1 c.198C>T r.(=) p.(=) g.21971160G>A Copied from the Exome Variant Server CDKN2A_000028 1/12676 1/8446 0/4230
1 c.206A>G r.(?) p.(Glu69Gly) g.21971152T>C Copied from the Exome Variant Server CDKN2A_000027 1/12770 1/8476 0/4294
1 c.273G>A r.(=) p.(=) g.21971085C>T Copied from the Exome Variant Server CDKN2A_000026 6/12866 0/8512 6/4354
1 c.298G>T r.(?) p.(Ala100Ser) g.21971060C>A Copied from the Exome Variant Server CDKN2A_000025 7/12862 0/8496 7/4366
1 c.308G>A r.(?) p.(Arg103Gln) g.21971050C>T Copied from the Exome Variant Server CDKN2A_000024 2/12934 0/8540 2/4394
1 c.318G>A r.(=) p.(=) g.21971040C>T Copied from the Exome Variant Server CDKN2A_000023 2/12968 2/8574 0/4394
1 c.320G>A r.(?) p.(Arg107His) g.21971038C>T Copied from the Exome Variant Server CDKN2A_000022 1/12970 1/8576 0/4394
1 c.325G>C r.(?) p.(Ala109Pro) g.21971033C>G Copied from the Exome Variant Server CDKN2A_000021 2/12984 0/8588 2/4396
1 c.361C>G r.(?) p.(Leu121Val) g.21970997G>C Copied from the Exome Variant Server CDKN2A_000020 1/13000 0/8596 1/4404
1 c.365G>T r.(?) p.(Gly122Val) g.21970993C>A Copied from the Exome Variant Server CDKN2A_000019 1/13000 0/8596 1/4404
1 c.369T>A r.(?) p.(His123Gln) g.21970989A>T Copied from the Exome Variant Server CDKN2A_000018 15/13000 0/8596 15/4404
1 c.373G>C r.(?) p.(Asp125His) g.21970985C>G Copied from the Exome Variant Server CDKN2A_000017 2/13000 1/8596 1/4404
1 c.379G>T r.(?) p.(Ala127Ser) g.21970979C>A Copied from the Exome Variant Server CDKN2A_000016 71/13002 0/8596 71/4406
1 c.384G>A r.(=) p.(=) g.21970974C>T Copied from the Exome Variant Server CDKN2A_000015 1/13006 1/8600 0/4406
1 c.400G>C r.(?) p.(Ala134Pro) g.21970958C>G Copied from the Exome Variant Server CDKN2A_000014 1/13006 0/8600 1/4406
1 c.412A>G r.(?) p.(Arg138Gly) g.21970946T>C Copied from the Exome Variant Server CDKN2A_000013 2/13006 2/8600 0/4406
1 c.416G>A r.(?) p.(Gly139Asp) g.21970942C>T Copied from the Exome Variant Server CDKN2A_000012 1/13006 0/8600 1/4406
1 c.430C>T r.(?) p.(Arg144Cys) g.21970928G>A Copied from the Exome Variant Server CDKN2A_000011 29/13006 0/8600 29/4406
1 c.442G>A r.(?) p.(Ala148Thr) g.21970916C>T Copied from the Exome Variant Server CDKN2A_000010 293/13006 276/8600 17/4406
1 c.457+49C>G r.(=) p.(=) g.21970852G>C Copied from the Exome Variant Server CDKN2A_000009 1/13004 1/8598 0/4406
1 c.458-62G>A r.(=) p.(=) g.21968303C>T Copied from the Exome Variant Server CDKN2A_000008 8/4566 0/3182 8/1384
1 c.*13G>C r.(=) p.(=) g.21968215C>G Copied from the Exome Variant Server CDKN2A_000007 1/13006 0/8600 1/4406
1 c.*29G>C r.(=) p.(=) g.21968199C>G Copied from the Exome Variant Server CDKN2A_000006 11044/13006 7351/8600 3693/4406
1 c.*30G>A r.(=) p.(=) g.21968198C>T Copied from the Exome Variant Server CDKN2A_000005 5/13006 0/8600 5/4406
1 c.*42C>A r.(=) p.(=) g.21968186G>T Copied from the Exome Variant Server CDKN2A_000004 1/13006 0/8600 1/4406
1 c.*47G>A r.(=) p.(=) g.21968181C>T Copied from the Exome Variant Server CDKN2A_000003 1/13006 0/8600 1/4406
1 c.*69C>T r.(=) p.(=) g.21968159G>A Copied from the Exome Variant Server CDKN2A_000002 503/4566 264/3182 239/1384
1 c.*74C>A r.(=) p.(=) g.21968154G>T Copied from the Exome Variant Server CDKN2A_000001 1/4566 1/3182 0/1384
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