Unique variants in gene B3GNT6

Information The variants shown are described using the NM_138706.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.1-33T>A r.(=) p.(=) g.76750563T>A Copied from the Exome Variant Server B3GNT6_000001 68/12392 0/8340 68/4052
1 c.16C>T r.(?) p.(Arg6Cys) g.76750611C>T Copied from the Exome Variant Server B3GNT6_000002 1/12386 1/8348 0/4038
1 c.72A>G r.(=) p.(=) g.76750667A>G Copied from the Exome Variant Server B3GNT6_000003 1/12300 1/8326 0/3974
1 c.105G>T r.(?) p.(Arg35Ser) g.76750700G>T Copied from the Exome Variant Server B3GNT6_000004 1/12124 0/8248 1/3876
1 c.113G>A r.(?) p.(Arg38Gln) g.76750708G>A Copied from the Exome Variant Server B3GNT6_000005 9/12036 0/8222 9/3814
1 c.127C>G r.(?) p.(Pro43Ala) g.76750722C>G Copied from the Exome Variant Server B3GNT6_000006 3/12002 3/8196 0/3806
1 c.131A>G r.(?) p.(Gln44Arg) g.76750726A>G Copied from the Exome Variant Server B3GNT6_000007 1/11964 0/8182 1/3782
1 c.135G>T r.(?) p.(Glu45Asp) g.76750730G>T Copied from the Exome Variant Server B3GNT6_000008 2/11964 0/8180 2/3784
1 c.157G>A r.(?) p.(Asp53Asn) g.76750752G>A Copied from the Exome Variant Server B3GNT6_000009 1/11786 1/8088 0/3698
1 c.186G>A r.(=) p.(=) g.76750781G>A Copied from the Exome Variant Server B3GNT6_000010 1/11122 1/7652 0/3470
1 c.205C>T r.(?) p.(Pro69Ser) g.76750800C>T Copied from the Exome Variant Server B3GNT6_000011 3/11254 0/7700 3/3554
1 c.219C>T r.(=) p.(=) g.76750814C>T Copied from the Exome Variant Server B3GNT6_000012 1/11336 1/7718 0/3618
1 c.348C>T r.(=) p.(=) g.76750943C>T Copied from the Exome Variant Server B3GNT6_000013 1/10226 1/7006 0/3220
1 c.356T>C r.(?) p.(Leu119Pro) g.76750951T>C Copied from the Exome Variant Server B3GNT6_000014 8/10368 8/7102 0/3266
1 c.381T>A r.(=) p.(=) g.76750976T>A Copied from the Exome Variant Server B3GNT6_000015 5/10718 5/7326 0/3392
1 c.452T>C r.(?) p.(Val151Ala) g.76751047T>C Copied from the Exome Variant Server B3GNT6_000016 28/10480 26/7248 2/3232
1 c.459C>T r.(=) p.(=) g.76751054C>T Copied from the Exome Variant Server B3GNT6_000017 2/10642 2/7370 0/3272
1 c.462C>G r.(=) p.(=) g.76751057C>G Copied from the Exome Variant Server B3GNT6_000018 2/10674 2/7384 0/3290
1 c.468A>G r.(=) p.(=) g.76751063A>G Copied from the Exome Variant Server B3GNT6_000019 1/10710 1/7412 0/3298
1 c.512_513insG r.(?) p.(Ala172Glyfs*207) g.76751107_76751108insG Copied from the Exome Variant Server B3GNT6_000020 966/9948 614/6848 352/3100
1 c.571G>A r.(?) p.(Ala191Thr) g.76751166G>A Copied from the Exome Variant Server B3GNT6_000021 2265/12934 851/8544 1414/4390
1 c.593C>G r.(?) p.(Thr198Arg) g.76751188C>G Copied from the Exome Variant Server B3GNT6_000022 1/12952 1/8560 0/4392
1 c.644C>G r.(?) p.(Ala215Gly) g.76751239C>G Copied from the Exome Variant Server B3GNT6_000023 9/12966 0/8572 9/4394
1 c.727C>T r.(?) p.(Arg243Cys) g.76751322C>T Copied from the Exome Variant Server B3GNT6_000024 1/12836 1/8506 0/4330
1 c.740C>T r.(?) p.(Ser247Phe) g.76751335C>T Copied from the Exome Variant Server B3GNT6_000025 1/12790 0/8492 1/4298
1 c.748del r.(?) p.(Leu250Serfs*105) g.76751343del Copied from the Exome Variant Server B3GNT6_000026 1/12224 1/8110 0/4114
1 c.1009del r.(?) p.(Pro337Leufs*18) g.76751604del Copied from the Exome Variant Server B3GNT6_000027 11985/11988 7958/7960 4027/4028
1 c.1068G>T N/A N/A g.76751663G>T Copied from the Exome Variant Server B3GNT6_000028 9/12914 9/8548 0/4366
1 c.1109C>T N/A N/A g.76751704C>T Copied from the Exome Variant Server B3GNT6_000029 2/12874 0/8534 2/4340
1 c.*7T>C r.(=) p.(=) g.76751760T>C Copied from the Exome Variant Server B3GNT6_000030 1/12428 1/8380 0/4048
1 c.*25G>T r.(=) p.(=) g.76751778G>T Copied from the Exome Variant Server B3GNT6_000031 2/12310 2/8318 0/3992
1 c.*38T>C r.(=) p.(=) g.76751791T>C Copied from the Exome Variant Server B3GNT6_000032 1/12310 0/8308 1/4002
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