All transcript variants in gene DRGX

Information The variants shown are described using the NM_001080520.1 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.26+17del r.(=) p.(=) g.50599865del Copied from the Exome Variant Server DRGX_000053 1/11448 0/7860 1/3588
?/? c.26+38C>T r.(=) p.(=) g.50599844G>A Copied from the Exome Variant Server DRGX_000052 7/11870 0/8200 7/3670
?/? c.26+39G>A r.(=) p.(=) g.50599843C>T Copied from the Exome Variant Server DRGX_000051 1/11868 0/8198 1/3670
?/? c.27-32C>T r.(=) p.(=) g.50599362G>A Copied from the Exome Variant Server DRGX_000050 1/11968 1/8210 0/3758
?/? c.27-24G>A r.(=) p.(=) g.50599354C>T Copied from the Exome Variant Server DRGX_000049 29/11990 0/8220 29/3770
?/? c.27-13C>A r.(=) p.(=) g.50599343G>T Copied from the Exome Variant Server DRGX_000048 1/12012 1/8222 0/3790
?/? c.129G>T r.(=) p.(=) g.50599228C>A Copied from the Exome Variant Server DRGX_000047 1/12114 0/8268 1/3846
?/? c.132G>A r.(=) p.(=) g.50599225C>T Copied from the Exome Variant Server DRGX_000046 2/12118 1/8268 1/3850
?/? c.147+4C>A r.spl? p.? g.50599206G>T Copied from the Exome Variant Server DRGX_000045 49/12124 45/8280 4/3844
?/? c.147+10T>C r.(=) p.(=) g.50599200A>G Copied from the Exome Variant Server DRGX_000044 1/12108 1/8276 0/3832
?/? c.147+29T>C r.(=) p.(=) g.50599181A>G Copied from the Exome Variant Server DRGX_000043 1/12060 0/8258 1/3802
?/? c.148-20A>G r.(=) p.(=) g.50598300T>C Copied from the Exome Variant Server DRGX_000042 1/12022 1/8228 0/3794
?/? c.249+35A>G r.(=) p.(=) g.50598144T>C Copied from the Exome Variant Server DRGX_000041 2/11696 2/8096 0/3600
?/? c.249+46C>A r.(=) p.(=) g.50598133G>T Copied from the Exome Variant Server DRGX_000040 9/11664 0/8066 9/3598
?/? c.250-25G>A r.(=) p.(=) g.50594929C>T Copied from the Exome Variant Server DRGX_000039 1/12354 1/8370 0/3984
?/? c.250-6A>G r.(=) p.(=) g.50594910T>C Copied from the Exome Variant Server DRGX_000038 4/12326 4/8348 0/3978
?/? c.374C>T r.(?) p.(Pro125Leu) g.50594780G>A Copied from the Exome Variant Server DRGX_000037 1/12312 1/8314 0/3998
?/? c.376C>T r.(?) p.(Pro126Ser) g.50594778G>A Copied from the Exome Variant Server DRGX_000036 1/12280 1/8306 0/3974
?/? c.379C>T r.(?) p.(Pro127Ser) g.50594775G>A Copied from the Exome Variant Server DRGX_000035 2/12278 0/8304 2/3974
?/? c.388C>A r.(?) p.(Gln130Lys) g.50594766G>T Copied from the Exome Variant Server DRGX_000034 1/12312 1/8310 0/4002
?/? c.394C>T r.(?) p.(Arg132Trp) g.50594760G>A Copied from the Exome Variant Server DRGX_000033 1/12298 1/8324 0/3974
?/? c.395G>A r.(?) p.(Arg132Gln) g.50594759C>T Copied from the Exome Variant Server DRGX_000032 1/12294 1/8328 0/3966
?/? c.406G>C r.(?) p.(Glu136Gln) g.50594748C>G Copied from the Exome Variant Server DRGX_000031 1/12340 0/8350 1/3990
?/? c.410C>T r.(?) p.(Ala137Val) g.50594744G>A Copied from the Exome Variant Server DRGX_000030 32/12346 1/8350 31/3996
?/? c.428+37G>A r.(=) p.(=) g.50594689C>T Copied from the Exome Variant Server DRGX_000029 1/12514 1/8398 0/4116
?/? c.429-15T>G r.(=) p.(=) g.50594651A>C Copied from the Exome Variant Server DRGX_000028 1/12504 1/8382 0/4122
?/? c.437G>A r.(?) p.(Arg146Gln) g.50594628C>T Copied from the Exome Variant Server DRGX_000026 38/12492 31/8384 7/4108
?/? c.440C>T r.(?) p.(Thr147Met) g.50594625G>A Copied from the Exome Variant Server DRGX_000027 2/12490 0/8382 2/4108
?/? c.466C>T r.(?) p.(Pro156Ser) g.50594599G>A Copied from the Exome Variant Server DRGX_000025 3/12422 0/8376 3/4046
?/? c.480G>A r.(=) p.(=) g.50594585C>T Copied from the Exome Variant Server DRGX_000024 1/12426 0/8372 1/4054
?/? c.497C>T r.(?) p.(Thr166Met) g.50594568G>A Copied from the Exome Variant Server DRGX_000023 3/12372 3/8336 0/4036
?/? c.499G>A r.(?) p.(Ala167Thr) g.50594566C>T Copied from the Exome Variant Server DRGX_000022 8/12364 8/8336 0/4028
?/? c.500C>T r.(?) p.(Ala167Val) g.50594565G>A Copied from the Exome Variant Server DRGX_000021 1/12360 1/8334 0/4026
?/? c.504C>A r.(=) p.(=) g.50594561G>T Copied from the Exome Variant Server DRGX_000020 5/12368 0/8336 5/4032
?/? c.507C>T r.(=) p.(=) g.50594558G>A Copied from the Exome Variant Server DRGX_000019 6/12350 1/8328 5/4022
?/? c.525T>C r.(=) p.(=) g.50594540A>G Copied from the Exome Variant Server DRGX_000018 1/12354 1/8316 0/4038
?/? c.541+15G>T r.(=) p.(=) g.50594509C>A Copied from the Exome Variant Server DRGX_000017 2793/12396 1840/8354 953/4042
?/? c.541+31G>A r.(=) p.(=) g.50594493C>T Copied from the Exome Variant Server DRGX_000016 1/12352 1/8280 0/4072
?/? c.542-51G>C r.(=) p.(=) g.50574477C>G Copied from the Exome Variant Server DRGX_000015 14/6390 13/4290 1/2100
?/? c.542-22C>A r.(=) p.(=) g.50574448G>T Copied from the Exome Variant Server DRGX_000014 11/12244 0/8320 11/3924
?/? c.542-3C>T r.spl? p.? g.50574429G>A Copied from the Exome Variant Server DRGX_000013 1/12280 1/8338 0/3942
?/? c.564C>T r.(=) p.(=) g.50574404G>A Copied from the Exome Variant Server DRGX_000012 1/12450 1/8388 0/4062
?/? c.565G>A r.(?) p.(Val189Ile) g.50574403C>T Copied from the Exome Variant Server DRGX_000011 3/12468 0/8396 3/4072
?/? c.577A>G r.(?) p.(Met193Val) g.50574391T>C Copied from the Exome Variant Server DRGX_000010 1/12500 0/8396 1/4104
?/? c.579G>C r.(?) p.(Met193Ile) g.50574389C>G Copied from the Exome Variant Server DRGX_000009 5/12522 0/8404 5/4118
?/? c.643C>A r.(?) p.(Arg215Ser) g.50574325G>T Copied from the Exome Variant Server DRGX_000008 1/12740 1/8462 0/4278
?/? c.654C>T r.(=) p.(=) g.50574314G>A Copied from the Exome Variant Server DRGX_000007 36/12758 34/8466 2/4292
?/? c.657C>A r.(=) p.(=) g.50574311G>T Copied from the Exome Variant Server DRGX_000006 1/12734 1/8454 0/4280
?/? c.666A>C r.(=) p.(=) g.50574302T>G Copied from the Exome Variant Server DRGX_000005 1/12754 0/8472 1/4282
?/? c.717C>T r.(=) p.(=) g.50574251G>A Copied from the Exome Variant Server DRGX_000004 4/12582 0/8384 4/4198
?/? c.737C>T r.(?) p.(Ala246Val) g.50574231G>A Copied from the Exome Variant Server DRGX_000003 2/12432 0/8330 2/4102
?/? c.752G>T r.(?) p.(Ser251Ile) g.50574216C>A Copied from the Exome Variant Server DRGX_000002 1/12346 0/8300 1/4046
?/? c.764C>G r.(?) p.(Thr255Ser) g.50574204G>C Copied from the Exome Variant Server DRGX_000001 1/12338 1/8300 0/4038
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