Full data view for gene SLC37A4

Information The variants shown are described using the NM_001467.5 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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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.-42G>C r.(=) p.(=) g.118900121C>G Copied from the Exome Variant Server SLC37A4_000094 27/12438 0/8368 27/4070 - - - - - - -
?/? c.21C>G r.(=) p.(=) g.118900059G>C Copied from the Exome Variant Server SLC37A4_000091 1/12448 1/8384 0/4064 - - - - - - -
?/? c.112T>C r.(=) p.(=) g.118899968A>G Copied from the Exome Variant Server SLC37A4_000095 1/12528 0/8412 1/4116 - - - - - - -
?/? c.141T>G r.(?) p.(Asp47Glu) g.118899939A>C Copied from the Exome Variant Server SLC37A4_000093 1/12534 1/8404 0/4130 - - - - - - -
?/? c.148+25T>C r.(=) p.(=) g.118899907A>G Copied from the Exome Variant Server SLC37A4_000092 1/12494 0/8406 1/4088 - - - - - - -
?/? c.149-38C>G r.(=) p.(=) g.118899174G>C Copied from the Exome Variant Server SLC37A4_000090 4/12210 0/8264 4/3946 - - - - - - -
?/? c.149-16G>A r.(=) p.(=) g.118899152C>T Copied from the Exome Variant Server SLC37A4_000089 1/12300 1/8332 0/3968 - - - - - - -
?/? c.149-14A>G r.(=) p.(=) g.118899150T>C Copied from the Exome Variant Server SLC37A4_000088 79/12314 73/8340 6/3974 - - - - - - -
?/? c.170C>T r.(?) p.(Ser57Leu) g.118899115G>A Copied from the Exome Variant Server SLC37A4_000087 1/12378 1/8370 0/4008 - - - - - - -
?/? c.174A>G r.(=) p.(=) g.118899111T>C Copied from the Exome Variant Server SLC37A4_000086 3/12390 0/8372 3/4018 - - - - - - -
?/? c.183T>C r.(=) p.(=) g.118899102A>G Copied from the Exome Variant Server SLC37A4_000085 540/12428 9/8392 531/4036 - - - - - - -
?/? c.192G>A r.(=) p.(=) g.118899093C>T Copied from the Exome Variant Server SLC37A4_000084 1/12462 0/8398 1/4064 - - - - - - -
?/? c.201T>C r.(=) p.(=) g.118899084A>G Copied from the Exome Variant Server SLC37A4_000083 2/12496 0/8404 2/4092 - - - - - - -
?/? c.204G>A r.(=) p.(=) g.118899081C>T Copied from the Exome Variant Server SLC37A4_000082 2/12536 2/8416 0/4120 - - - - - - -
?/? c.205G>T r.(?) p.(Val69Leu) g.118899080C>A Copied from the Exome Variant Server SLC37A4_000081 5/12544 0/8418 5/4126 - - - - - - -
?/? c.230G>A r.(?) p.(Arg77His) g.118899055C>T Copied from the Exome Variant Server SLC37A4_000080 1/12582 0/8416 1/4166 - - - - - - -
?/? c.242C>T r.(?) p.(Ser81Phe) g.118899043G>A Copied from the Exome Variant Server SLC37A4_000079 3/12558 0/8404 3/4154 - - - - - - -
?/? c.292T>G r.(?) p.(Ser98Ala) g.118898993A>C Copied from the Exome Variant Server SLC37A4_000078 1/12392 1/8352 0/4040 - - - - - - -
?/? c.299T>C r.(?) p.(Val100Ala) g.118898986A>G Copied from the Exome Variant Server SLC37A4_000077 1/12372 1/8344 0/4028 - - - - - - -
?/? c.345_346insGG r.(?) p.(Leu116Glyfs*31) g.118898939_118898940insCC Copied from the Exome Variant Server SLC37A4_000076 1/11580 1/7886 0/3694 - - - - - - -
?/? c.377G>A r.(?) p.(Arg126Gln) g.118898908C>T Copied from the Exome Variant Server SLC37A4_000075 1/12132 1/8238 0/3894 - - - - - - -
?/? c.382-44T>C r.(=) p.(=) g.118898626A>G Copied from the Exome Variant Server SLC37A4_000074 1/12262 1/8284 0/3978 - - - - - - -
?/? c.382-23A>G r.(=) p.(=) g.118898605T>C Copied from the Exome Variant Server SLC37A4_000073 2/12332 1/8318 1/4014 - - - - - - -
?/? c.405C>T r.(=) p.(=) g.118898559G>A Copied from the Exome Variant Server SLC37A4_000072 1/12422 1/8328 0/4094 - - - - - - -
?/? c.467C>T r.(?) p.(Ala156Val) g.118898497G>A Copied from the Exome Variant Server SLC37A4_000071 14/12508 13/8378 1/4130 - - - - - - -
?/? c.492C>A r.(?) p.(Ser164Arg) g.118898472G>T Copied from the Exome Variant Server SLC37A4_000070 5/12534 5/8400 0/4134 - - - - - - -
?/? c.496C>T r.(?) p.(Arg166Cys) g.118898468G>A Copied from the Exome Variant Server SLC37A4_000069 1/12530 0/8392 1/4138 - - - - - - -
?/? c.497G>A r.(?) p.(Arg166His) g.118898467C>T Copied from the Exome Variant Server SLC37A4_000068 16/12524 0/8386 16/4138 - - - - - - -
?/? c.522A>C r.(=) p.(=) g.118898442T>G Copied from the Exome Variant Server SLC37A4_000067 1/12596 1/8414 0/4182 - - - - - - -
?/? c.540C>G r.(=) p.(=) g.118898424G>C Copied from the Exome Variant Server SLC37A4_000066 1/12636 0/8430 1/4206 - - - - - - -
?/? c.541C>T N/A N/A g.118898423G>A Copied from the Exome Variant Server SLC37A4_000065 1/12636 1/8430 0/4206 - - - - - - -
?/? c.568T>C N/A N/A g.118898396A>G Copied from the Exome Variant Server SLC37A4_000064 2/12634 0/8424 2/4210 - - - - - - -
?/? c.591G>A N/A N/A g.118898373C>T Copied from the Exome Variant Server SLC37A4_000063 1/12588 1/8410 0/4178 - - - - - - -
?/? c.594A>T N/A N/A g.118898370T>A Copied from the Exome Variant Server SLC37A4_000062 57/12594 52/8414 5/4180 - - - - - - -
?/? c.604C>T N/A N/A g.118898360G>A Copied from the Exome Variant Server SLC37A4_000061 1/12546 1/8392 0/4154 - - - - - - -
?/? c.606T>G N/A N/A g.118898358A>C Copied from the Exome Variant Server SLC37A4_000060 1/12546 1/8398 0/4148 - - - - - - -
?/? c.626+14C>T r.(=) p.(=) g.118898324G>A Copied from the Exome Variant Server SLC37A4_000059 99/12476 86/8382 13/4094 - - - - - - -
?/? c.626+19C>T r.(=) p.(=) g.118898319G>A Copied from the Exome Variant Server SLC37A4_000058 1446/12482 1099/8390 347/4092 - - - - - - -
?/? c.627-51G>A r.(=) p.(=) g.118897856C>T Copied from the Exome Variant Server SLC37A4_000057 2/6668 0/4378 2/2290 - - - - - - -
?/? c.627-44G>A r.(=) p.(=) g.118897849C>T Copied from the Exome Variant Server SLC37A4_000056 1/12378 0/8350 1/4028 - - - - - - -
?/? c.627-23G>A r.(=) p.(=) g.118897828C>T Copied from the Exome Variant Server SLC37A4_000055 2/12254 2/8310 0/3944 - - - - - - -
?/? c.629T>C N/A N/A g.118897803A>G Copied from the Exome Variant Server SLC37A4_000054 16/12154 0/8268 16/3886 - - - - - - -
?/? c.664G>A N/A N/A g.118897768C>T Copied from the Exome Variant Server SLC37A4_000053 6/12194 0/8304 6/3890 - - - - - - -
?/? c.732C>T N/A N/A g.118897700G>A Copied from the Exome Variant Server SLC37A4_000052 1/12216 1/8292 0/3924 - - - - - - -
?/? c.785+3A>G r.spl? p.? g.118897644T>C Copied from the Exome Variant Server SLC37A4_000051 1/12344 0/8330 1/4014 - - - - - - -
?/? c.785+6A>T r.(=) p.(=) g.118897641T>A Copied from the Exome Variant Server SLC37A4_000050 8/12354 0/8334 8/4020 - - - - - - -
?/? c.785+43A>T r.(=) p.(=) g.118897604T>A Copied from the Exome Variant Server SLC37A4_000049 1/12402 1/8354 0/4048 - - - - - - -
?/? c.786-33C>G r.(=) p.(=) g.118897431G>C Copied from the Exome Variant Server SLC37A4_000048 1/12176 1/8282 0/3894 - - - - - - -
?/? c.812G>T N/A N/A g.118897372C>A Copied from the Exome Variant Server SLC37A4_000047 1/12192 1/8298 0/3894 - - - - - - -
?/? c.847C>T r.(=) p.(=) g.118897337G>A Copied from the Exome Variant Server SLC37A4_000046 1/12360 0/8350 1/4010 - - - - - - -
?/? c.850G>A N/A N/A g.118897334C>T Copied from the Exome Variant Server SLC37A4_000045 1/12368 1/8354 0/4014 - - - - - - -
?/? c.871+6C>T r.(=) p.(=) g.118897307G>A Copied from the Exome Variant Server SLC37A4_000044 1/12452 0/8374 1/4078 - - - - - - -
?/? c.871+17G>T r.(=) p.(=) g.118897296C>A Copied from the Exome Variant Server SLC37A4_000043 1/12488 1/8370 0/4118 - - - - - - -
?/? c.871+50C>T r.(=) p.(=) g.118897263G>A Copied from the Exome Variant Server SLC37A4_000042 436/12494 12/8352 424/4142 - - - - - - -
?/? c.871+51G>A r.(=) p.(=) g.118897262C>T Copied from the Exome Variant Server SLC37A4_000041 184/6808 39/4406 145/2402 - - - - - - -
?/? c.871+56G>A r.(=) p.(=) g.118897257C>T Copied from the Exome Variant Server SLC37A4_000040 30/4566 26/3182 4/1384 - - - - - - -
?/? c.872-28C>T r.(=) p.(=) g.118896818G>A Copied from the Exome Variant Server SLC37A4_000039 7/12610 6/8416 1/4194 - - - - - - -
?/? c.872-27G>A r.(=) p.(=) g.118896817C>T Copied from the Exome Variant Server SLC37A4_000038 1/12620 0/8426 1/4194 - - - - - - -
?/? c.872-21T>C r.(=) p.(=) g.118896811A>G Copied from the Exome Variant Server SLC37A4_000037 35/12628 1/8430 34/4198 - - - - - - -
?/? c.873C>T N/A N/A g.118896789G>A Copied from the Exome Variant Server SLC37A4_000036 12/12598 0/8432 12/4166 - - - - - - -
?/? c.907C>A r.(?) p.(Leu303Met) g.118896755G>T Copied from the Exome Variant Server SLC37A4_000035 1/12672 1/8460 0/4212 - - - - - - -
?/? c.931C>T N/A N/A g.118896731G>A Copied from the Exome Variant Server SLC37A4_000034 7/12686 0/8468 7/4218 - - - - - - -
?/? c.956C>T N/A N/A g.118896706G>A Copied from the Exome Variant Server SLC37A4_000033 1/12596 1/8434 0/4162 - - - - - - -
?/? c.969C>T r.(=) p.(=) g.118896693G>A Copied from the Exome Variant Server SLC37A4_000032 5/12578 5/8432 0/4146 - - - - - - -
?/? c.985+24C>T r.(=) p.(=) g.118896653G>A Copied from the Exome Variant Server SLC37A4_000031 1/12500 0/8374 1/4126 - - - - - - -
?/? c.985+25G>A r.(=) p.(=) g.118896652C>T Copied from the Exome Variant Server SLC37A4_000030 2/12498 2/8376 0/4122 - - - - - - -
?/? c.985+31G>A r.(=) p.(=) g.118896646C>T Copied from the Exome Variant Server SLC37A4_000029 2/12504 2/8368 0/4136 - - - - - - -
?/? c.985+34C>T r.(=) p.(=) g.118896643G>A Copied from the Exome Variant Server SLC37A4_000028 48/12512 43/8374 5/4138 - - - - - - -
?/? c.985+166_985+168del r.(=) p.(=) g.118896509_118896511del Copied from the Exome Variant Server SLC37A4_000027 12/9358 0/6304 12/3054 - - - - - - -
?/? c.985+228C>G r.(=) p.(=) g.118896449G>C Copied from the Exome Variant Server SLC37A4_000026 6/4566 4/3182 2/1384 - - - - - - -
?/? c.985+247C>T r.(=) p.(=) g.118896430G>A Copied from the Exome Variant Server SLC37A4_000025 1/4566 0/3182 1/1384 - - - - - - -
?/? c.985+248G>A r.(=) p.(=) g.118896429C>T Copied from the Exome Variant Server SLC37A4_000024 1/4566 1/3182 0/1384 - - - - - - -
?/? c.986-48C>T r.(=) p.(=) g.118896087G>A Copied from the Exome Variant Server SLC37A4_000023 30/12086 30/8232 0/3854 - - - - - - -
?/? c.986-32C>T r.(=) p.(=) g.118896071G>A Copied from the Exome Variant Server SLC37A4_000022 1/12138 1/8284 0/3854 - - - - - - -
?/? c.986-30C>G r.(=) p.(=) g.118896069G>C Copied from the Exome Variant Server SLC37A4_000021 1/12150 1/8290 0/3860 - - - - - - -
?/? c.986-18C>T r.(=) p.(=) g.118896057G>A Copied from the Exome Variant Server SLC37A4_000020 1/12164 1/8304 0/3860 - - - - - - -
?/? c.992A>G N/A N/A g.118896033T>C Copied from the Exome Variant Server SLC37A4_000019 1/12164 0/8298 1/3866 - - - - - - -
?/? c.1013T>C r.(?) p.(Phe338Ser) g.118896012A>G Copied from the Exome Variant Server SLC37A4_000018 6/12224 6/8314 0/3910 - - - - - - -
?/? c.1016G>T r.(?) p.(Gly339Val) g.118896009C>A Copied from the Exome Variant Server SLC37A4_000017 2/12230 2/8322 0/3908 - - - - - - -
?/? c.1026C>T N/A N/A g.118895999G>A Copied from the Exome Variant Server SLC37A4_000016 1/12258 1/8330 0/3928 - - - - - - -
?/? c.1043_1044del r.(?) p.(Phe349Trpfs*52) g.118895981_118895982del Copied from the Exome Variant Server SLC37A4_000015 4/11814 3/7974 1/3840 - - - - - - -
?/? c.1048T>C N/A N/A g.118895977A>G Copied from the Exome Variant Server SLC37A4_000014 1/12306 1/8334 0/3972 - - - - - - -
?/? c.1063C>T N/A N/A g.118895962G>A Copied from the Exome Variant Server SLC37A4_000013 130/12336 117/8342 13/3994 - - - - - - -
?/? c.1104T>C r.(=) p.(=) g.118895921A>G Copied from the Exome Variant Server SLC37A4_000012 1/12318 1/8314 0/4004 - - - - - - -
?/? c.1124+8T>C r.(=) p.(=) g.118895893A>G Copied from the Exome Variant Server SLC37A4_000011 2/12330 2/8318 0/4012 - - - - - - -
?/? c.1125-7_1125-6del r.(=) p.(=) g.118895792_118895793del Copied from the Exome Variant Server SLC37A4_000010 1/11808 1/7978 0/3830 - - - - - - -
?/? c.1169C>T N/A N/A g.118895742G>A Copied from the Exome Variant Server SLC37A4_000009 6/12392 0/8364 6/4028 - - - - - - -
?/? c.1202del r.(?) p.(Val402*) g.118895709del Copied from the Exome Variant Server SLC37A4_000008 1/11902 0/8016 1/3886 - - - - - - -
?/? c.1225G>A r.(?) p.(Ala409Thr) g.118895686C>T Copied from the Exome Variant Server SLC37A4_000007 3172/12404 1809/8362 1363/4042 - - - - - - -
?/? c.1253C>T N/A N/A g.118895658G>A Copied from the Exome Variant Server SLC37A4_000006 1/12378 1/8344 0/4034 - - - - - - -
?/? c.1276C>T N/A N/A g.118895635G>A Copied from the Exome Variant Server SLC37A4_000005 136/12396 1/8352 135/4044 - - - - - - -
?/? c.1279G>A N/A N/A g.118895632C>T Copied from the Exome Variant Server SLC37A4_000004 218/12380 0/8344 218/4036 - - - - - - -
?/? c.1287A>C N/A N/A g.118895624T>G Copied from the Exome Variant Server SLC37A4_000003 6/12398 0/8344 6/4054 - - - - - - -
?/? c.*5A>C r.(=) p.(=) g.118895615T>G Copied from the Exome Variant Server SLC37A4_000002 1/12378 1/8340 0/4038 - - - - - - -
?/? c.*7T>G r.(=) p.(=) g.118895613A>C Copied from the Exome Variant Server SLC37A4_000001 2/12380 0/8342 2/4038 - - - - - - -
Legend