Full data view for gene SLC51A

Information The variants shown are described using the NM_152672.5 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-33G>A r.(=) p.(=) g.195943551G>A Copied from the Exome Variant Server SLC51A_000001 1/12470 1/8292 0/4178 - - - - - - -
?/? c.-30G>A r.(=) p.(=) g.195943554G>A Copied from the Exome Variant Server SLC51A_000002 7/12554 0/8340 7/4214 - - - - - - -
?/? c.-25C>T r.(=) p.(=) g.195943559C>T Copied from the Exome Variant Server SLC51A_000003 17/12646 1/8396 16/4250 - - - - - - -
?/? c.-17C>T r.(=) p.(=) g.195943567C>T Copied from the Exome Variant Server SLC51A_000004 1/12754 0/8454 1/4300 - - - - - - -
?/? c.9G>A r.(=) p.(=) g.195943592G>A Copied from the Exome Variant Server SLC51A_000005 3/12876 0/8518 3/4358 - - - - - - -
?/? c.38+15C>T r.(=) p.(=) g.195943636C>T Copied from the Exome Variant Server SLC51A_000006 1/12764 1/8424 0/4340 - - - - - - -
?/? c.38+41C>T r.(=) p.(=) g.195943662C>T Copied from the Exome Variant Server SLC51A_000007 1/12556 1/8296 0/4260 - - - - - - -
?/? c.39-48C>G r.(=) p.(=) g.195944665C>G Copied from the Exome Variant Server SLC51A_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.39-10G>A r.(=) p.(=) g.195944703G>A Copied from the Exome Variant Server SLC51A_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.41A>G r.(?) p.(Tyr14Cys) g.195944715A>G Copied from the Exome Variant Server SLC51A_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.58G>A r.(?) p.(Glu20Lys) g.195944732G>A Copied from the Exome Variant Server SLC51A_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.88T>A r.(?) p.(Ser30Thr) g.195944762T>A Copied from the Exome Variant Server SLC51A_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90C>T r.(=) p.(=) g.195944764C>T Copied from the Exome Variant Server SLC51A_000013 345/13006 2/8600 343/4406 - - - - - - -
?/? c.118G>A r.(?) p.(Ala40Thr) g.195944792G>A Copied from the Exome Variant Server SLC51A_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.124C>T r.(?) p.(Leu42Phe) g.195944798C>T Copied from the Exome Variant Server SLC51A_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.134-43C>T r.(=) p.(=) g.195953793C>T Copied from the Exome Variant Server SLC51A_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.134-32G>A r.(=) p.(=) g.195953804G>A Copied from the Exome Variant Server SLC51A_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.134-29C>T r.(=) p.(=) g.195953807C>T Copied from the Exome Variant Server SLC51A_000018 81/13006 1/8600 80/4406 - - - - - - -
?/? c.134-4C>T r.spl? p.? g.195953832C>T Copied from the Exome Variant Server SLC51A_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.135C>T r.(=) p.(=) g.195953837C>T Copied from the Exome Variant Server SLC51A_000020 15/13006 0/8600 15/4406 - - - - - - -
?/? c.138G>T r.(=) p.(=) g.195953840G>T Copied from the Exome Variant Server SLC51A_000022 20/13006 2/8600 18/4406 - - - - - - -
?/? c.174C>G r.(=) p.(=) g.195953876C>G Copied from the Exome Variant Server SLC51A_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.217G>A r.(?) p.(Val73Ile) g.195953919G>A Copied from the Exome Variant Server SLC51A_000026 2/13006 1/8600 1/4406 - - - - - - -
?/? c.266T>C r.(?) p.(Leu89Pro) g.195953968T>C Copied from the Exome Variant Server SLC51A_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.269G>C r.(?) p.(Trp90Ser) g.195953971G>C Copied from the Exome Variant Server SLC51A_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.278C>T r.(?) p.(Ser93Leu) g.195953980C>T Copied from the Exome Variant Server SLC51A_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.195953990G>A Copied from the Exome Variant Server SLC51A_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.288+12G>A r.(=) p.(=) g.195954002G>A Copied from the Exome Variant Server SLC51A_000021 12/13006 12/8600 0/4406 - - - - - - -
?/? c.288+25del r.(=) p.(=) g.195954015del Copied from the Exome Variant Server SLC51A_000023 34/12520 3/8254 31/4266 - - - - - - -
?/? c.289-23C>G r.(=) p.(=) g.195954512C>G Copied from the Exome Variant Server SLC51A_000025 104/13006 1/8600 103/4406 - - - - - - -
?/? c.308G>C r.(?) p.(Cys103Ser) g.195954554G>C Copied from the Exome Variant Server SLC51A_000027 12/13006 0/8600 12/4406 - - - - - - -
?/? c.324C>T r.(=) p.(=) g.195954570C>T Copied from the Exome Variant Server SLC51A_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.328C>G r.(?) p.(Arg110Gly) g.195954574C>G Copied from the Exome Variant Server SLC51A_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.362+9C>T r.(=) p.(=) g.195954617C>T Copied from the Exome Variant Server SLC51A_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.362+17G>A r.(=) p.(=) g.195954625G>A Copied from the Exome Variant Server SLC51A_000035 2/13006 2/8600 0/4406 - - - - - - -
?/? c.362+23C>T r.(=) p.(=) g.195954631C>T Copied from the Exome Variant Server SLC51A_000036 120/13006 1/8600 119/4406 - - - - - - -
?/? c.363-26T>C r.(=) p.(=) g.195954960T>C Copied from the Exome Variant Server SLC51A_000037 244/13006 4/8600 240/4406 - - - - - - -
?/? c.363-15C>A r.(=) p.(=) g.195954971C>A Copied from the Exome Variant Server SLC51A_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.363-11del r.(=) p.(=) g.195954975del Copied from the Exome Variant Server SLC51A_000039 35/12520 20/8254 15/4266 - - - - - - -
?/? c.372C>T r.(=) p.(=) g.195954995C>T Copied from the Exome Variant Server SLC51A_000040 13/13006 0/8600 13/4406 - - - - - - -
?/? c.420G>T r.(=) p.(=) g.195955043G>T Copied from the Exome Variant Server SLC51A_000041 6/13006 0/8600 6/4406 - - - - - - -
?/? c.437G>A r.(?) p.(Arg146Lys) g.195955060G>A Copied from the Exome Variant Server SLC51A_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.195955064G>A Copied from the Exome Variant Server SLC51A_000043 4/13006 0/8600 4/4406 - - - - - - -
?/? c.461T>C r.(?) p.(Met154Thr) g.195955084T>C Copied from the Exome Variant Server SLC51A_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.477_479del r.(?) p.(Cys164del) g.195955100_195955102del Copied from the Exome Variant Server SLC51A_000045 530/12518 364/8254 166/4264 - - - - - - -
?/? c.521+7C>T r.(=) p.(=) g.195955151C>T Copied from the Exome Variant Server SLC51A_000046 3/13006 3/8600 0/4406 - - - - - - -
?/? c.521+8G>A r.(=) p.(=) g.195955152G>A Copied from the Exome Variant Server SLC51A_000047 1/13004 1/8598 0/4406 - - - - - - -
?/? c.521+34C>T r.(=) p.(=) g.195955178C>T Copied from the Exome Variant Server SLC51A_000048 2276/12992 2001/8594 275/4398 - - - - - - -
?/? c.521+40G>A r.(=) p.(=) g.195955184G>A Copied from the Exome Variant Server SLC51A_000049 2/12984 2/8590 0/4394 - - - - - - -
?/? c.522-21C>G r.(=) p.(=) g.195955659C>G Copied from the Exome Variant Server SLC51A_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.522-13_522-12insT r.(=) p.(=) g.195955667_195955668insT Copied from the Exome Variant Server SLC51A_000051 4/12520 0/8254 4/4266 - - - - - - -
?/? c.522-3C>A r.spl? p.? g.195955677C>A Copied from the Exome Variant Server SLC51A_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.522G>A r.(=) p.(=) g.195955680G>A Copied from the Exome Variant Server SLC51A_000053 4/13006 3/8600 1/4406 - - - - - - -
?/? c.562G>A r.(?) p.(Ala188Thr) g.195955720G>A Copied from the Exome Variant Server SLC51A_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.570G>A r.(=) p.(=) g.195955728G>A Copied from the Exome Variant Server SLC51A_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.579G>A r.(=) p.(=) g.195955737G>A Copied from the Exome Variant Server SLC51A_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.586C>G r.(?) p.(Leu196Val) g.195955744C>G Copied from the Exome Variant Server SLC51A_000057 5/13006 4/8600 1/4406 - - - - - - -
?/? c.604G>A r.(?) p.(Val202Ile) g.195955762G>A Copied from the Exome Variant Server SLC51A_000058 5197/13006 4108/8600 1089/4406 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.195955767C>T Copied from the Exome Variant Server SLC51A_000059 4/13006 0/8600 4/4406 - - - - - - -
?/? c.633+8G>A r.(=) p.(=) g.195955799G>A Copied from the Exome Variant Server SLC51A_000060 12/13006 11/8600 1/4406 - - - - - - -
?/? c.633+11A>G r.(=) p.(=) g.195955802A>G Copied from the Exome Variant Server SLC51A_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.633+13_633+14insAAGG r.(=) p.(=) g.195955804_195955805insAAGG Copied from the Exome Variant Server SLC51A_000062 1/12520 1/8254 0/4266 - - - - - - -
?/? c.633+33G>T r.(=) p.(=) g.195955824G>T Copied from the Exome Variant Server SLC51A_000063 3/13006 3/8600 0/4406 - - - - - - -
?/? c.634-44G>A r.(=) p.(=) g.195956742G>A Copied from the Exome Variant Server SLC51A_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.634-8G>T r.(=) p.(=) g.195956778G>T Copied from the Exome Variant Server SLC51A_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.638C>T r.(?) p.(Ser213Phe) g.195956790C>T Copied from the Exome Variant Server SLC51A_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.657A>G r.(=) p.(=) g.195956809A>G Copied from the Exome Variant Server SLC51A_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.195956815C>T Copied from the Exome Variant Server SLC51A_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.675T>C r.(=) p.(=) g.195956827T>C Copied from the Exome Variant Server SLC51A_000069 5345/13006 3818/8600 1527/4406 - - - - - - -
?/? c.679G>A r.(?) p.(Val227Met) g.195956831G>A Copied from the Exome Variant Server SLC51A_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.722G>A r.(?) p.(Arg241His) g.195956874G>A Copied from the Exome Variant Server SLC51A_000072 12/13006 1/8600 11/4406 - - - - - - -
?/? c.741G>A r.(=) p.(=) g.195956893G>A Copied from the Exome Variant Server SLC51A_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.767T>C r.(?) p.(Phe256Ser) g.195956919T>C Copied from the Exome Variant Server SLC51A_000076 2/13006 0/8600 2/4406 - - - - - - -
?/? c.780+8T>C r.(=) p.(=) g.195956940T>C Copied from the Exome Variant Server SLC51A_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.780+10C>T r.(=) p.(=) g.195956942C>T Copied from the Exome Variant Server SLC51A_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.780+11C>T r.(=) p.(=) g.195956943C>T Copied from the Exome Variant Server SLC51A_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.780+34T>C r.(=) p.(=) g.195956966T>C Copied from the Exome Variant Server SLC51A_000084 4/13006 4/8600 0/4406 - - - - - - -
?/? c.780+38C>T r.(=) p.(=) g.195956970C>T Copied from the Exome Variant Server SLC51A_000071 3729/13006 2631/8600 1098/4406 - - - - - - -
?/? c.781-48C>T r.(=) p.(=) g.195959242C>T Copied from the Exome Variant Server SLC51A_000073 2/13006 2/8600 0/4406 - - - - - - -
?/? c.781-5C>T r.spl? p.? g.195959285C>T Copied from the Exome Variant Server SLC51A_000075 3/13006 1/8600 2/4406 - - - - - - -
?/? c.814A>G r.(?) p.(Ile272Val) g.195959323A>G Copied from the Exome Variant Server SLC51A_000077 26/13006 23/8600 3/4406 - - - - - - -
?/? c.832A>G r.(?) p.(Asn278Asp) g.195959341A>G Copied from the Exome Variant Server SLC51A_000079 2/13006 2/8600 0/4406 - - - - - - -
?/? c.834C>T r.(=) p.(=) g.195959343C>T Copied from the Exome Variant Server SLC51A_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.880T>C r.(?) p.(Ser294Pro) g.195959389T>C Copied from the Exome Variant Server SLC51A_000083 3/13006 0/8600 3/4406 - - - - - - -
?/? c.886+39T>C r.(=) p.(=) g.195959434T>C Copied from the Exome Variant Server SLC51A_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.887-50C>T r.(=) p.(=) g.195959884C>T Copied from the Exome Variant Server SLC51A_000086 5/13006 5/8600 0/4406 - - - - - - -
?/? c.887-42T>C r.(=) p.(=) g.195959892T>C Copied from the Exome Variant Server SLC51A_000087 46/13006 44/8600 2/4406 - - - - - - -
?/? c.887-24G>A r.(=) p.(=) g.195959910G>A Copied from the Exome Variant Server SLC51A_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.887-20T>C r.(=) p.(=) g.195959914T>C Copied from the Exome Variant Server SLC51A_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.887-10T>C r.(=) p.(=) g.195959924T>C Copied from the Exome Variant Server SLC51A_000090 5994/13006 3828/8600 2166/4406 - - - - - - -
?/? c.910C>T r.(=) p.(=) g.195959957C>T Copied from the Exome Variant Server SLC51A_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.941G>A r.(?) p.(Arg314Gln) g.195959988G>A Copied from the Exome Variant Server SLC51A_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.952C>T r.(?) p.(Arg318*) g.195959999C>T Copied from the Exome Variant Server SLC51A_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.973G>A r.(?) p.(Gly325Arg) g.195960020G>A Copied from the Exome Variant Server SLC51A_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1020C>T r.(=) p.(=) g.195960067C>T Copied from the Exome Variant Server SLC51A_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1021T>C r.(?) p.(*341Glnext*7) g.195960068T>C Copied from the Exome Variant Server SLC51A_000096 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*2G>A r.(=) p.(=) g.195960072G>A Copied from the Exome Variant Server SLC51A_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*7T>C r.(=) p.(=) g.195960077T>C Copied from the Exome Variant Server SLC51A_000098 1/13006 1/8600 0/4406 - - - - - - -
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