All transcript variants in gene GALNTL6

Information The variants shown are described using the NM_001034845.2 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-50G>A r.(=) p.(=) g.172735682G>A Copied from the Exome Variant Server GALNTL6_000001 2/13006 1/8600 1/4406
?/? c.-42G>A r.(=) p.(=) g.172735690G>A Copied from the Exome Variant Server GALNTL6_000002 1/13006 1/8600 0/4406
?/? c.-38C>T r.(=) p.(=) g.172735694C>T Copied from the Exome Variant Server GALNTL6_000003 72/13006 0/8600 72/4406
?/? c.-7A>C r.(=) p.(=) g.172735725A>C Copied from the Exome Variant Server GALNTL6_000004 2/13006 0/8600 2/4406
?/? c.10A>C r.(?) p.(Lys4Gln) g.172735741A>C Copied from the Exome Variant Server GALNTL6_000005 1/13006 1/8600 0/4406
?/? c.64C>T r.(=) p.(=) g.172735795C>T Copied from the Exome Variant Server GALNTL6_000006 1/13006 0/8600 1/4406
?/? c.120G>A r.(=) p.(=) g.172735851G>A Copied from the Exome Variant Server GALNTL6_000007 93/13006 24/8600 69/4406
?/? c.138+28C>G r.(=) p.(=) g.172735897C>G Copied from the Exome Variant Server GALNTL6_000008 9734/13006 8098/8600 1636/4406
?/? c.139-12C>T r.(=) p.(=) g.173150795C>T Copied from the Exome Variant Server GALNTL6_000009 1/13006 0/8600 1/4406
?/? c.247+18C>T r.(=) p.(=) g.173150933C>T Copied from the Exome Variant Server GALNTL6_000010 1/13006 1/8600 0/4406
?/? c.247+19G>T r.(=) p.(=) g.173150934G>T Copied from the Exome Variant Server GALNTL6_000011 397/13006 1/8600 396/4406
?/? c.247+30A>G r.(=) p.(=) g.173150945A>G Copied from the Exome Variant Server GALNTL6_000012 1/13006 1/8600 0/4406
?/? c.248-42C>A r.(=) p.(=) g.173232723C>A Copied from the Exome Variant Server GALNTL6_000013 1/13006 1/8600 0/4406
?/? c.248-21C>T r.(=) p.(=) g.173232744C>T Copied from the Exome Variant Server GALNTL6_000014 1/13006 1/8600 0/4406
?/? c.248-15G>T r.(=) p.(=) g.173232750G>T Copied from the Exome Variant Server GALNTL6_000015 9/13006 0/8600 9/4406
?/? c.258A>C r.(?) p.(Glu86Asp) g.173232775A>C Copied from the Exome Variant Server GALNTL6_000016 1/13006 0/8600 1/4406
?/? c.271T>G r.(?) p.(Tyr91Asp) g.173232788T>G Copied from the Exome Variant Server GALNTL6_000017 1/13006 1/8600 0/4406
?/? c.288G>A r.(=) p.(=) g.173232805G>A Copied from the Exome Variant Server GALNTL6_000018 2275/13006 1609/8600 666/4406
?/? c.312G>A r.(=) p.(=) g.173232829G>A Copied from the Exome Variant Server GALNTL6_000019 1/13006 1/8600 0/4406
?/? c.318T>C r.(=) p.(=) g.173232835T>C Copied from the Exome Variant Server GALNTL6_000020 1/13006 1/8600 0/4406
?/? c.334G>A r.(?) p.(Val112Ile) g.173232851G>A Copied from the Exome Variant Server GALNTL6_000021 1/13006 1/8600 0/4406
?/? c.386+13A>G r.(=) p.(=) g.173232916A>G Copied from the Exome Variant Server GALNTL6_000022 2/13006 2/8600 0/4406
?/? c.386+19G>C r.(=) p.(=) g.173232922G>C Copied from the Exome Variant Server GALNTL6_000023 4/13006 0/8600 4/4406
?/? c.386+33T>A r.(=) p.(=) g.173232936T>A Copied from the Exome Variant Server GALNTL6_000024 10/13006 0/8600 10/4406
?/? c.386+41G>T r.(=) p.(=) g.173232944G>T Copied from the Exome Variant Server GALNTL6_000025 6725/13006 5462/8600 1263/4406
?/? c.387-36T>C r.(=) p.(=) g.173269638T>C Copied from the Exome Variant Server GALNTL6_000026 5139/13006 2468/8600 2671/4406
?/? c.387-12C>T r.(=) p.(=) g.173269662C>T Copied from the Exome Variant Server GALNTL6_000027 19/13006 0/8600 19/4406
?/? c.394C>T r.(?) p.(His132Tyr) g.173269681C>T Copied from the Exome Variant Server GALNTL6_000028 4/13006 4/8600 0/4406
?/? c.450T>C r.(=) p.(=) g.173269737T>C Copied from the Exome Variant Server GALNTL6_000029 65/13006 62/8600 3/4406
?/? c.453A>G r.(=) p.(=) g.173269740A>G Copied from the Exome Variant Server GALNTL6_000030 1/13006 1/8600 0/4406
?/? c.473G>A r.(?) p.(Arg158Gln) g.173269760G>A Copied from the Exome Variant Server GALNTL6_000031 1/13006 1/8600 0/4406
?/? c.478A>G r.(?) p.(Ile160Val) g.173269765A>G Copied from the Exome Variant Server GALNTL6_000032 2/13006 1/8600 1/4406
?/? c.501C>T r.(=) p.(=) g.173269788C>T Copied from the Exome Variant Server GALNTL6_000033 65/13006 0/8600 65/4406
?/? c.553+39del r.(=) p.(=) g.173269879del Copied from the Exome Variant Server GALNTL6_000034 1/12520 1/8254 0/4266
?/? c.554-33G>A r.(=) p.(=) g.173730479G>A Copied from the Exome Variant Server GALNTL6_000035 1/13006 1/8600 0/4406
?/? c.554-24A>G r.(=) p.(=) g.173730488A>G Copied from the Exome Variant Server GALNTL6_000036 24/13006 1/8600 23/4406
?/? c.583A>G r.(?) p.(Met195Val) g.173730541A>G Copied from the Exome Variant Server GALNTL6_000037 2/13006 2/8600 0/4406
?/? c.586G>A r.(?) p.(Ala196Thr) g.173730544G>A Copied from the Exome Variant Server GALNTL6_000038 1/13006 0/8600 1/4406
?/? c.606G>A r.(=) p.(=) g.173730564G>A Copied from the Exome Variant Server GALNTL6_000039 1/13006 1/8600 0/4406
?/? c.619_621del r.(?) p.(Lys208del) g.173730577_173730579del Copied from the Exome Variant Server GALNTL6_000040 26/12520 16/8254 10/4266
?/? c.636C>T r.(=) p.(=) g.173730594C>T Copied from the Exome Variant Server GALNTL6_000041 1/13006 1/8600 0/4406
?/? c.641G>A r.(?) p.(Arg214Gln) g.173730599G>A Copied from the Exome Variant Server GALNTL6_000042 1/13006 1/8600 0/4406
?/? c.726G>A r.(=) p.(=) g.173730684G>A Copied from the Exome Variant Server GALNTL6_000043 1/13006 1/8600 0/4406
?/? c.768C>T r.(=) p.(=) g.173734719C>T Copied from the Exome Variant Server GALNTL6_000044 1/13006 1/8600 0/4406
?/? c.789C>A r.(=) p.(=) g.173734740C>A Copied from the Exome Variant Server GALNTL6_000045 1/13006 1/8600 0/4406
?/? c.801T>C r.(=) p.(=) g.173734752T>C Copied from the Exome Variant Server GALNTL6_000046 2/13006 0/8600 2/4406
?/? c.844G>A r.(?) p.(Ala282Thr) g.173734795G>A Copied from the Exome Variant Server GALNTL6_000047 1/13006 1/8600 0/4406
?/? c.850G>A r.(?) p.(Asp284Asn) g.173734801G>A Copied from the Exome Variant Server GALNTL6_000048 1/13006 0/8600 1/4406
?/? c.892C>T r.(?) p.(Leu298Phe) g.173734843C>T Copied from the Exome Variant Server GALNTL6_000049 1/13006 1/8600 0/4406
?/? c.912C>T r.(=) p.(=) g.173734863C>T Copied from the Exome Variant Server GALNTL6_000050 7/13006 6/8600 1/4406
?/? c.923+17G>A r.(=) p.(=) g.173734891G>A Copied from the Exome Variant Server GALNTL6_000051 2/13006 2/8600 0/4406
?/? c.923+22G>T r.(=) p.(=) g.173734896G>T Copied from the Exome Variant Server GALNTL6_000052 1/13006 1/8600 0/4406
?/? c.924-47T>C r.(=) p.(=) g.173803894T>C Copied from the Exome Variant Server GALNTL6_000053 1/13006 1/8600 0/4406
?/? c.924-40C>T r.(=) p.(=) g.173803901C>T Copied from the Exome Variant Server GALNTL6_000054 1/13006 1/8600 0/4406
?/? c.924-27T>C r.(=) p.(=) g.173803914T>C Copied from the Exome Variant Server GALNTL6_000055 4947/13006 3681/8600 1266/4406
?/? c.924-22G>T r.(=) p.(=) g.173803919G>T Copied from the Exome Variant Server GALNTL6_000056 2/13006 2/8600 0/4406
?/? c.924-9A>G r.(=) p.(=) g.173803932A>G Copied from the Exome Variant Server GALNTL6_000057 1/13006 1/8600 0/4406
?/? c.1041+35A>G r.(=) p.(=) g.173804093A>G Copied from the Exome Variant Server GALNTL6_000058 2/13006 2/8600 0/4406
?/? c.1041+43G>T r.(=) p.(=) g.173804101G>T Copied from the Exome Variant Server GALNTL6_000059 1/13006 1/8600 0/4406
?/? c.1041+47A>G r.(=) p.(=) g.173804105A>G Copied from the Exome Variant Server GALNTL6_000060 1/13006 1/8600 0/4406
?/? c.1042-42T>C r.(=) p.(=) g.173852270T>C Copied from the Exome Variant Server GALNTL6_000061 6/13006 0/8600 6/4406
?/? c.1042-16A>G r.(=) p.(=) g.173852296A>G Copied from the Exome Variant Server GALNTL6_000062 19/13006 17/8600 2/4406
?/? c.1119C>T r.(=) p.(=) g.173852389C>T Copied from the Exome Variant Server GALNTL6_000063 1/13006 0/8600 1/4406
?/? c.1149+29G>A r.(=) p.(=) g.173852448G>A Copied from the Exome Variant Server GALNTL6_000064 55/13006 0/8600 55/4406
?/? c.1149+39del r.(=) p.(=) g.173852458del Copied from the Exome Variant Server GALNTL6_000065 1/12518 0/8252 1/4266
?/? c.1150-18_1150-17del r.(=) p.(=) g.173873170_173873171del Copied from the Exome Variant Server GALNTL6_000066 12486/12520 8253/8254 4233/4266
?/? c.1212_1222del r.(?) p.(Pro405Alafs*35) g.173873250_173873260del Copied from the Exome Variant Server GALNTL6_000067 31/12520 23/8254 8/4266
?/? c.1218G>A r.(=) p.(=) g.173873256G>A Copied from the Exome Variant Server GALNTL6_000068 67/13006 63/8600 4/4406
?/? c.1277A>G r.(?) p.(Lys426Arg) g.173873315A>G Copied from the Exome Variant Server GALNTL6_000069 1/13006 1/8600 0/4406
?/? c.1292A>G r.(?) p.(Lys431Arg) g.173873330A>G Copied from the Exome Variant Server GALNTL6_000070 1/13006 0/8600 1/4406
?/? c.1320C>T r.(=) p.(=) g.173873358C>T Copied from the Exome Variant Server GALNTL6_000071 1/13006 0/8600 1/4406
?/? c.1341A>T r.(=) p.(=) g.173873379A>T Copied from the Exome Variant Server GALNTL6_000072 1/13006 1/8600 0/4406
?/? c.1352C>T r.(?) p.(Pro451Leu) g.173873390C>T Copied from the Exome Variant Server GALNTL6_000073 1/13006 1/8600 0/4406
?/? c.1371+47G>A r.(=) p.(=) g.173873456G>A Copied from the Exome Variant Server GALNTL6_000074 1/13002 0/8598 1/4404
?/? c.1371+51del r.(=) p.(=) g.173873460del Copied from the Exome Variant Server GALNTL6_000075 3/12512 2/8250 1/4262
?/? c.1372-51T>C r.(=) p.(=) g.173930278T>C Copied from the Exome Variant Server GALNTL6_000076 1/13006 0/8600 1/4406
?/? c.1372-45A>T r.(=) p.(=) g.173930284A>T Copied from the Exome Variant Server GALNTL6_000077 1/13006 0/8600 1/4406
?/? c.1372-31C>T r.(=) p.(=) g.173930298C>T Copied from the Exome Variant Server GALNTL6_000078 23/13006 20/8600 3/4406
?/? c.1376G>A r.(?) p.(Arg459Gln) g.173930333G>A Copied from the Exome Variant Server GALNTL6_000079 2/13006 1/8600 1/4406
?/? c.1423G>A r.(?) p.(Gly475Arg) g.173930380G>A Copied from the Exome Variant Server GALNTL6_000080 1/13006 1/8600 0/4406
?/? c.1464T>C r.(=) p.(=) g.173930421T>C Copied from the Exome Variant Server GALNTL6_000081 6/13006 0/8600 6/4406
?/? c.1488+11T>G r.(=) p.(=) g.173930456T>G Copied from the Exome Variant Server GALNTL6_000082 1/13006 0/8600 1/4406
?/? c.1488+18A>G r.(=) p.(=) g.173930463A>G Copied from the Exome Variant Server GALNTL6_000083 1/13006 1/8600 0/4406
?/? c.1488+33del r.(=) p.(=) g.173930478del Copied from the Exome Variant Server GALNTL6_000084 2/12520 2/8254 0/4266
?/? c.1488+34A>G r.(=) p.(=) g.173930479A>G Copied from the Exome Variant Server GALNTL6_000085 12803/13006 8597/8600 4206/4406
?/? c.1488+52C>T r.(=) p.(=) g.173930497C>T Copied from the Exome Variant Server GALNTL6_000086 1/7272 0/4618 1/2654
?/? c.1489-31T>G r.(=) p.(=) g.173942596T>G Copied from the Exome Variant Server GALNTL6_000087 1/13006 1/8600 0/4406
?/? c.1489-5G>A r.spl? p.? g.173942622G>A Copied from the Exome Variant Server GALNTL6_000088 19/13006 16/8600 3/4406
?/? c.1581C>T r.(=) p.(=) g.173942719C>T Copied from the Exome Variant Server GALNTL6_000089 1/13006 0/8600 1/4406
?/? c.1582G>A r.(?) p.(Val528Ile) g.173942720G>A Copied from the Exome Variant Server GALNTL6_000090 3/13006 3/8600 0/4406
?/? c.1638+27C>T r.(=) p.(=) g.173942803C>T Copied from the Exome Variant Server GALNTL6_000091 1/13006 0/8600 1/4406
?/? c.1638+50A>G r.(=) p.(=) g.173942826A>G Copied from the Exome Variant Server GALNTL6_000092 2/13006 2/8600 0/4406
?/? c.1639-40G>A r.(=) p.(=) g.173961044G>A Copied from the Exome Variant Server GALNTL6_000093 2/13006 1/8600 1/4406
?/? c.1639-32_1639-31del r.(=) p.(=) g.173961052_173961053del Copied from the Exome Variant Server GALNTL6_000094 23/12520 19/8254 4/4266
?/? c.1656T>C r.(=) p.(=) g.173961101T>C Copied from the Exome Variant Server GALNTL6_000095 100/13006 0/8600 100/4406
?/? c.1696A>G r.(?) p.(Lys566Glu) g.173961141A>G Copied from the Exome Variant Server GALNTL6_000096 1/13006 0/8600 1/4406
?/? c.1698G>T r.(?) p.(Lys566Asn) g.173961143G>T Copied from the Exome Variant Server GALNTL6_000097 1/13006 1/8600 0/4406
?/? c.1699A>C r.(?) p.(Lys567Gln) g.173961144A>C Copied from the Exome Variant Server GALNTL6_000098 1/13006 1/8600 0/4406
?/? c.1708A>C r.(?) p.(Met570Leu) g.173961153A>C Copied from the Exome Variant Server GALNTL6_000099 6/13006 0/8600 6/4406
?/? c.1709T>C r.(?) p.(Met570Thr) g.173961154T>C Copied from the Exome Variant Server GALNTL6_000100 1/13006 0/8600 1/4406
Legend