All transcript variants in gene NKPD1

Information The variants shown are described using the NM_198478.3 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.7A>G r.(?) p.(Lys3Glu) g.45663402T>C Copied from the Exome Variant Server NKPD1_000053 1/4566 0/3182 1/1384
?/? c.18A>G r.(=) p.(=) g.45663391T>C Copied from the Exome Variant Server NKPD1_000052 2/4566 2/3182 0/1384
?/? c.91+21C>T r.(=) p.(=) g.45663297G>A Copied from the Exome Variant Server NKPD1_000051 1/4566 0/3182 1/1384
?/? c.91+33G>A r.(=) p.(=) g.45663285C>T Copied from the Exome Variant Server NKPD1_000050 1/4566 1/3182 0/1384
?/? c.549C>G r.(?) p.(Asp183Glu) g.45659155G>C Copied from the Exome Variant Server NKPD1_000049 46/4566 41/3182 5/1384
?/? c.550G>A r.(?) p.(Val184Ile) g.45659154C>T Copied from the Exome Variant Server NKPD1_000048 22/4566 0/3182 22/1384
?/? c.591G>A r.(=) p.(=) g.45659113C>T Copied from the Exome Variant Server NKPD1_000047 1/4566 1/3182 0/1384
?/? c.604G>A r.(?) p.(Val202Met) g.45659100C>T Copied from the Exome Variant Server NKPD1_000046 1/4566 1/3182 0/1384
?/? c.624C>T r.(=) p.(=) g.45659080G>A Copied from the Exome Variant Server NKPD1_000045 1/4566 1/3182 0/1384
?/? c.661+25G>A r.(=) p.(=) g.45659018C>T Copied from the Exome Variant Server NKPD1_000044 6/4566 6/3182 0/1384
?/? c.661+27G>T r.(=) p.(=) g.45659016C>A Copied from the Exome Variant Server NKPD1_000043 6/4566 0/3182 6/1384
?/? c.661+28G>A r.(=) p.(=) g.45659015C>T Copied from the Exome Variant Server NKPD1_000042 1/4566 1/3182 0/1384
?/? c.716A>T r.(?) p.(Gln239Leu) g.45656979T>A Copied from the Exome Variant Server NKPD1_000041 1/11522 1/7790 0/3732
?/? c.772G>C r.(?) p.(Val258Leu) g.45656923C>G Copied from the Exome Variant Server NKPD1_000040 2/12600 0/8392 2/4208
?/? c.774del r.(?) p.(Phe259Serfs*39) g.45656921del Copied from the Exome Variant Server NKPD1_000039 2/12090 0/8024 2/4066
?/? c.813C>T r.(=) p.(=) g.45656882G>A Copied from the Exome Variant Server NKPD1_000038 1/12582 1/8386 0/4196
?/? c.894C>T r.(=) p.(=) g.45656801G>A Copied from the Exome Variant Server NKPD1_000037 2/12360 0/8300 2/4060
?/? c.1317C>T r.(=) p.(=) g.45656378G>A Copied from the Exome Variant Server NKPD1_000036 4/12764 0/8492 4/4272
?/? c.1393T>C r.(?) p.(Tyr465His) g.45656302A>G Copied from the Exome Variant Server NKPD1_000035 2/12728 2/8466 0/4262
?/? c.1424C>A r.(?) p.(Ala475Asp) g.45656271G>T Copied from the Exome Variant Server NKPD1_000034 1/12748 1/8458 0/4290
?/? c.1440G>T r.(=) p.(=) g.45656255C>A Copied from the Exome Variant Server NKPD1_000033 1/12716 0/8452 1/4264
?/? c.1450C>T r.(?) p.(His484Tyr) g.45656245G>A Copied from the Exome Variant Server NKPD1_000032 1/12670 0/8438 1/4232
?/? c.1464C>T r.(=) p.(=) g.45656231G>A Copied from the Exome Variant Server NKPD1_000031 4/12638 4/8420 0/4218
?/? c.1509G>C r.(?) p.(Glu503Asp) g.45656186C>G Copied from the Exome Variant Server NKPD1_000030 2/12610 0/8426 2/4184
?/? c.1515G>A r.(=) p.(=) g.45656180C>T Copied from the Exome Variant Server NKPD1_000029 1/12586 0/8412 1/4174
?/? c.1548_1557del r.(?) p.(Tyr516*) g.45656138_45656147del Copied from the Exome Variant Server NKPD1_000028 32/11952 23/8008 9/3944
?/? c.1548_1558del r.(?) p.(Tyr516*) g.45656137_45656147del Copied from the Exome Variant Server NKPD1_000027 38/11948 24/8006 14/3942
?/? c.1560C>T r.(=) p.(=) g.45656135G>A Copied from the Exome Variant Server NKPD1_000026 1/12590 1/8418 0/4172
?/? c.1626C>A r.(?) p.(His542Gln) g.45656069G>T Copied from the Exome Variant Server NKPD1_000025 265/12538 8/8380 257/4158
?/? c.1631C>A r.(?) p.(Ala544Glu) g.45656064G>T Copied from the Exome Variant Server NKPD1_000024 1/12530 1/8380 0/4150
?/? c.1779G>A r.(=) p.(=) g.45655916C>T Copied from the Exome Variant Server NKPD1_000023 1/12124 1/8160 0/3964
?/? c.1825G>C r.(?) p.(Asp609His) g.45655870C>G Copied from the Exome Variant Server NKPD1_000022 3/12428 3/8316 0/4112
?/? c.1909C>T r.(?) p.(Gln637*) g.45655786G>A Copied from the Exome Variant Server NKPD1_000021 1/11890 0/8066 1/3824
?/? c.1924_1926del r.(?) p.(Gln642del) g.45655769_45655771del Copied from the Exome Variant Server NKPD1_000020 215/10218 143/7064 72/3154
?/? c.1924_1926dup r.(?) p.(Gln642dup) g.45655769_45655771dup Copied from the Exome Variant Server NKPD1_000019 88/10218 8/7064 80/3154
?/? c.1930G>A r.(?) p.(Asp644Asn) g.45655765C>T Copied from the Exome Variant Server NKPD1_000018 4/11368 4/7788 0/3580
?/? c.1974G>A r.(=) p.(=) g.45655721C>T Copied from the Exome Variant Server NKPD1_000017 1/11130 1/7664 0/3466
?/? c.2037G>A r.(=) p.(=) g.45655658C>T Copied from the Exome Variant Server NKPD1_000016 67/11464 0/7892 67/3572
?/? c.2048C>A r.(?) p.(Ala683Glu) g.45655647G>T Copied from the Exome Variant Server NKPD1_000015 1075/11588 1009/7978 66/3610
?/? c.2051C>T r.(?) p.(Pro684Leu) g.45655644G>A Copied from the Exome Variant Server NKPD1_000014 1/11680 1/8026 0/3654
?/? c.2059C>T r.(?) p.(Arg687Cys) g.45655636G>A Copied from the Exome Variant Server NKPD1_000013 34/11854 30/8098 4/3756
?/? c.2090A>G r.(?) p.(Asn697Ser) g.45655605T>C Copied from the Exome Variant Server NKPD1_000012 1/12248 0/8264 1/3984
?/? c.2094C>T r.(=) p.(=) g.45655601G>A Copied from the Exome Variant Server NKPD1_000011 117/12258 0/8266 117/3992
?/? c.2202C>T r.(=) p.(=) g.45655493G>A Copied from the Exome Variant Server NKPD1_000010 1/12150 1/8234 0/3916
?/? c.2209C>G r.(?) p.(Gln737Glu) g.45655486G>C Copied from the Exome Variant Server NKPD1_000009 227/12148 3/8244 224/3904
?/? c.2219T>C r.(?) p.(Leu740Pro) g.45655476A>G Copied from the Exome Variant Server NKPD1_000008 1/12162 1/8244 0/3918
?/? c.2286G>A r.(=) p.(=) g.45655409C>T Copied from the Exome Variant Server NKPD1_000007 2/11912 0/8078 2/3834
?/? c.2307C>G r.(=) p.(=) g.45655388G>C Copied from the Exome Variant Server NKPD1_000006 1/11954 1/8114 0/3840
?/? c.2332del r.(?) p.(His778Thrfs*98) g.45655363del Copied from the Exome Variant Server NKPD1_000005 6/11150 3/7610 3/3540
?/? c.2362A>G r.(?) p.(Arg788Gly) g.45655333T>C Copied from the Exome Variant Server NKPD1_000004 722/11342 584/7834 138/3508
?/? c.2381G>T r.(?) p.(Arg794Leu) g.45655314C>A Copied from the Exome Variant Server NKPD1_000003 1/11474 1/7916 0/3558
?/? c.2386_2387del r.(?) p.(Ser796Argfs*58) g.45655308_45655309del Copied from the Exome Variant Server NKPD1_000002 16/10944 6/7548 10/3396
?/? c.*14C>T r.(=) p.(=) g.45655182G>A Copied from the Exome Variant Server NKPD1_000001 1/11846 1/8086 0/3760
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