View all transcript variants in gene SLC22A5

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

390 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Owner     
./. - - c.-207C>G - - - - - 5 Unknown - g.131705458C>G - - - SLC22A5_000232 MSCV_0021350 - - ; clinvar; - - - - -
+?/+? - - c.-185C>A p.(=) - - - - 5 Unknown subst g.131705480C>A - 4.020 - SLC22A5_000116 MSCV_0001037 rs2631366 - ; clinvar; - - - - -
+/+ - - c.-149G>A p.(=) - - - - 5 Unknown subst g.131705516G>A - 0.509 - SLC22A5_000117 MSCV_0001038 rs57262206 - ; clinvar; ensembl; - - - - -
./. - - c.-149G>A - - - - - 5 Unknown - g.131705516G>A - - - SLC22A5_000117 MSCV_0001038 - - ; clinvar; - - - - -
./. - - c.-139G>T - - - - - 5 Unknown - g.131705526G>T - - - SLC22A5_000230 MSCV_0021353 - - ; clinvar; - - - - -
./. - - c.-131A>C - - - - - 5 Unknown - g.131705534A>C - - - SLC22A5_000283 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.-130_-103del - - - - - 5 Unknown - g.131705535_131705562del - - - SLC22A5_000284 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.-118G>A - - - - - 5 Unknown - g.131705547G>A - - - SLC22A5_000231 MSCV_0021354 - - ; clinvar; - - - - -
./. - - c.-107G>T - - - - - 5 Unknown - g.131705558G>T - - - SLC22A5_000190 MSCV_0021355 - - ; clinvar; - - - - -
./. - - c.-91_8del - - - - - 5 Unknown - g.131705574_131705672del - - - SLC22A5_000124 MSCV_0021356 - - ; clinvar; - - - - -
+/+ - - c.-91_22del p.? - - - - 5 Unknown del g.131705574_131705686del - - - SLC22A5_000122 MSCV_0003137 - - ; clinvar; - - - - -
-/- - - c.-78C>T p.(=) - - - - 5 Unknown subst g.131705587C>T - -7.340 - SLC22A5_000049 MSCV_0001039 rs13180043 - ; clinvar; ensembl; 10545605 - - - -
./. - - c.-78C>T - - - - - 5 Unknown - g.131705587C>T - - - SLC22A5_000049 MSCV_0001039 - - ; clinvar; - - - - -
-/- - - c.-77G>A p.(=) - - - - 5 Unknown subst g.131705588G>A - 0.734 - SLC22A5_000050 MSCV_0001040 rs13180295 - ; clinvar; ensembl; 10545605 - - - -
./. - - c.-77G>A - - - - - 5 Unknown - g.131705588G>A - - - SLC22A5_000050 MSCV_0001040 - - ; clinvar; - - - - -
-/- - - c.-38C>A p.(=) - - - - 5 Unknown subst g.131705627C>A - -0.801 - SLC22A5_000051 MSCV_0001041 rs1045018 - ; clinvar; - - - - -
./. - - c.-30G>C - - - - - 5 Unknown - g.131705635G>C - - - SLC22A5_000125 MSCV_0021360 - - ; clinvar; - - - - -
./. - - c.-25C>T - - - - - 5 Unknown - g.131705640C>T - - - SLC22A5_000126 MSCV_0021361 - - ; clinvar; - - - - -
./. - - c.1A>G - - - - - 5 Unknown - g.131705665A>G - - - SLC22A5_000285 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.1A>T - - - - - 5 Unknown - g.131705665A>T - - - SLC22A5_000286 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.2T>G - - - - - 5 Unknown - g.131705666T>G - - - SLC22A5_000287 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 1/10 c.3G>T p.? possibly_damaging(0.742) initiator_codon_variant - tolerated(0.06) 5 Unknown subst g.131705667G>T - 4.990 - SLC22A5_000052 MSCV_0001043 rs121908892 - ; clinvar; ensembl; 15714519 - - - -
./. - - c.3G>T - - - - - 5 Unknown - g.131705667G>T - - - SLC22A5_000052 MSCV_0001043 - - ; clinvar; - - - - -
./. - - c.3_4insC - - - - - 5 Unknown ins g.131705667_131705668insC - - - SLC22A5_000053 MSCV_0001042 rs377767443 - ; 9916797 - - - -
./. - - c.3_4insC - - - - - 5 Unknown - g.131705667_131705668insC - - - SLC22A5_000053 MSCV_0001042 - - ; clinvar; - - - - -
./. - 1/10 c.3_4insC p.(Arg2Profs*160) - frameshift_variant - - 5 Unknown ins g.131705667_131705668insC - - - SLC22A5_000053 MSCV_0005238 rs377767443 - ; ensembl; 9916797 - - - -
?/? - - c.4dup p.(Arg2Profs*160) - - - - 5 Unknown dup g.131705668dup - 3.070 - SLC22A5_000054 MSCV_0001044 - - ; - - - - -
./. - 1/10 c.4_5insCG p.(Arg2Profs*7) - frameshift_variant - - 5 Unknown ins g.131705668_131705669insCG - - - SLC22A5_000121 MSCV_0003143 - - ; - - - - -
+/+ - 1/10 c.12C>G p.(Tyr4*) - stop_gained - - 5 Unknown subst g.131705676C>G - 4.990 - SLC22A5_000055 MSCV_0001045 rs72552722 - ; clinvar; ensembl; 11715001 - - - -
./. - - c.12C>G - - - - - 5 Unknown - g.131705676C>G - - - SLC22A5_000055 MSCV_0001045 - - ; clinvar; - - - - -
./. - - c.13del - - - - - 5 Unknown - g.131705677del - - - SLC22A5_000264 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 1/10 c.34G>A p.(Gly12Ser) probably_damaging(0.997) missense_variant - deleterious(0) 5 Unknown subst g.131705698G>A - 4.990 - SLC22A5_000056 MSCV_0001046 rs139203363 - ; clinvar; ensembl; - - - - -
./. - - c.34G>A - - - - - 5 Unknown - g.131705698G>A - - - SLC22A5_000056 MSCV_0001046 - - ; clinvar; - - - - -
./. - - c.39G>C - - - - - 5 Unknown - g.131705703G>C - - - SLC22A5_000265 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.40T>A - - - - - 5 Unknown - g.131705704T>A - - - SLC22A5_000266 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.40_41insGGG - - - - - 5 Unknown - g.131705704_131705705insGGG - - - SLC22A5_000267 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 1/10 c.43G>T p.(Gly15Trp) probably_damaging(0.999) missense_variant - deleterious(0) 5 Unknown subst g.131705707G>T - 4.990 - SLC22A5_000057 MSCV_0001047 rs267607052 - ; clinvar; ensembl; 20027113 - - - -
./. - - c.43G>T - - - - - 5 Unknown - g.131705707G>T - - - SLC22A5_000057 MSCV_0001047 - - ; clinvar; - - - - -
+/+ - 1/10 c.51C>G p.(Phe17Leu) possibly_damaging(0.703) missense_variant - deleterious(0.01) 5 Unknown subst g.131705715C>G - 3.210 - SLC22A5_000058 MSCV_0001048 rs11568520 - ; clinvar; ensembl; 23757202 - - - -
./. - - c.51C>G - - - - - 5 Unknown - g.131705715C>G - - - SLC22A5_000058 MSCV_0001048 - - ; clinvar; - - - - -
./. - - c.51del - - - - - 5 Unknown - g.131705715del - - - SLC22A5_000268 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 1/10 c.56G>C p.(Arg19Pro) possibly_damaging(0.818) missense_variant - tolerated(0.14) 5 Unknown subst g.131705720G>C - 4.990 - SLC22A5_000059 MSCV_0001049 rs72552723 - ; clinvar; ensembl; 11715001 - - - -
./. - - c.56G>C - - - - - 5 Unknown - g.131705720G>C - - - SLC22A5_000059 MSCV_0001049 - - ; clinvar; - - - - -
+/+ - 1/10 c.59T>A p.(Leu20His) benign(0.092) missense_variant - tolerated(0.19) 5 Unknown subst g.131705723T>A - 5.180 - SLC22A5_000060 MSCV_0001050 rs144020613 - ; clinvar; ensembl; - - - - -
./. - - c.59T>A - - - - - 5 Unknown - g.131705723T>A - - - SLC22A5_000060 MSCV_0001050 - - ; clinvar; - - - - -
./. - - c.62_64del - - - - - 5 Unknown - g.131705726_131705728del - - - SLC22A5_000131 MSCV_0021370 - - ; clinvar; - - - - -
+?/+? - - c.64_66del p.(Phe23del) - - - - 5 Unknown del g.131705728_131705730del - - - SLC22A5_000061 MSCV_0001051 rs377767444 - ; ensembl; 12210323 - - - -
?/? - - c.67_69del p.(Phe23del) - - - - 5 Unknown del g.131705731_131705733del - - - SLC22A5_000062 MSCV_0001052 - - ; - - - - -
./. - - c.71del - - - - - 5 Unknown - g.131705735del - - - SLC22A5_000269 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.75C>T - - - - - 5 Unknown - g.131705739C>T - - - SLC22A5_000133 MSCV_0021371 - - ; clinvar; - - - - -
+/+ - 1/10 c.83G>T p.(Ser28Ile) benign(0.254) missense_variant - tolerated(0.06) 5 Unknown subst g.131705747G>T - 5.180 - SLC22A5_000063 MSCV_0001053 rs72552724 - ; clinvar; ensembl; 12408185 - - - -
./. - - c.83G>T - - - - - 5 Unknown - g.131705747G>T - - - SLC22A5_000063 MSCV_0001053 - - ; clinvar; - - - - -
./. - - c.93C>T - - - - - 5 Unknown - g.131705757C>T - - - SLC22A5_000134 MSCV_0021373 - - ; clinvar; - - - - -
+/+ - 1/10 c.95A>G p.(Asn32Ser) benign(0.041) missense_variant - tolerated(0.05) 5 Unknown subst g.131705759A>G - 4.000 - SLC22A5_000064 MSCV_0001054 rs72552725 - ; clinvar; ensembl; 12210323 - - - -
./. - - c.95A>G - - - - - 5 Unknown - g.131705759A>G - - - SLC22A5_000064 MSCV_0001054 - - ; clinvar; - - - - -
./. - - c.119T>A - - - - - 5 Unknown - g.131705783T>A - - - SLC22A5_000270 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.122T>G - - - - - 5 Unknown - g.131705786T>G - - - SLC22A5_000271 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.131C>T - - - - - 5 Unknown - g.131705795C>T - - - SLC22A5_000272 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.133A>G - - - - - 5 Unknown - g.131705797A>G - - - SLC22A5_000136 MSCV_0021375 - - ; clinvar; - - - - -
./. - - c.134del - - - - - 5 Unknown - g.131705798del - - - SLC22A5_000273 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 1/10 c.136C>G p.(Pro46Ala) probably_damaging(0.992) missense_variant - deleterious(0) 5 Unknown subst g.131705800C>G - 5.320 - SLC22A5_000065 MSCV_0001055 rs202088921 - ; clinvar; ensembl; 17126586 - - - -
./. - - c.136C>G - - - - - 5 Unknown - g.131705800C>G - - - SLC22A5_000065 MSCV_0001055 - - ; clinvar; - - - - -
+/+ - 1/10 c.136C>T p.(Pro46Ser) probably_damaging(0.992) missense_variant - deleterious(0) 5 Unknown subst g.131705800C>T - 5.320 - SLC22A5_000066 MSCV_0001057 rs202088921 - ; clinvar; ensembl; 17126586 - - - -
./. - - c.136C>T - - - - - 5 Unknown - g.131705800C>T - - - SLC22A5_000066 MSCV_0001057 - - ; clinvar; - - - - -
+/+ - 1/10 c.137C>T p.(Pro46Leu) possibly_damaging(0.812) missense_variant - deleterious(0) 5 Unknown subst g.131705801C>T - 5.320 - SLC22A5_000067 MSCV_0001058 rs377767445 - ; clinvar; ensembl; - - - - -
./. - - c.137C>T - - - - - 5 Unknown - g.131705801C>T - - - SLC22A5_000067 MSCV_0001058 - - ; clinvar; - - - - -
+/+ - - c.148del p.(Cys50Alafs*9) - - - - 5 Unknown del g.131705812del - 5.460 - SLC22A5_000068 MSCV_0001059 rs386134227 - ; clinvar; ensembl; - - - - -
./. - - c.148del - - - - - 5 Unknown - g.131705812del - - - SLC22A5_000068 MSCV_0001059 - - ; clinvar; - - - - -
./. - - c.155_156insGCCGGAC - - - - - 5 Unknown - g.131705819_131705820insGCCGGAC - - - SLC22A5_000139 MSCV_0021380 - - ; clinvar; - - - - -
./. - - c.185G>A - - - - - 5 Unknown - g.131705849G>A - - - SLC22A5_000274 - - - ; clinvar; - - - - Lishuang Shen
-/- - 1/10 c.207G>C p.(=) - synonymous_variant - - 5 Unknown subst g.131705871G>C - 4.580 - SLC22A5_000069 MSCV_0001060 rs377767446 - ; clinvar; ensembl; 16437728 - - - -
./. - - c.207G>C - - - - - 5 Unknown - g.131705871G>C - - - SLC22A5_000069 MSCV_0001060 - - ; clinvar; - - - - -
./. - - c.208C>T - - - - - 5 Unknown - g.131705872C>T - - - SLC22A5_000191 MSCV_0021382 - - ; clinvar; - - - - -
+/+ - - c.232del p.(His79Thrfs*51) - - - - 5 Unknown del g.131705896del - 5.460 - SLC22A5_000070 MSCV_0001061 rs377767447 - ; clinvar; ensembl; 16652335 - - - -
./. - - c.232del - - - - - 5 Unknown - g.131705896del - - - SLC22A5_000070 MSCV_0001061 - - ; clinvar; - - - - -
./. - - c.242G>A - - - - - 5 Unknown - g.131705906G>A - - - SLC22A5_000275 - - - ; clinvar; - - - - Lishuang Shen
-/- - 1/10 c.246C>T p.(=) - synonymous_variant - - 5 Unknown subst g.131705910C>T - 1.140 - SLC22A5_000071 MSCV_0001062 rs377767448 - ; clinvar; ensembl; - - - - -
./. - - c.246C>T - - - - - 5 Unknown - g.131705910C>T - - - SLC22A5_000071 MSCV_0001062 - - ; clinvar; - - - - -
./. - - c.247C>T - - - - - 5 Unknown - g.131705911C>T - - - SLC22A5_000276 - - - ; clinvar; - - - - Lishuang Shen
+/+ - 1/10 c.248G>T p.(Arg83Leu) possibly_damaging(0.708) missense_variant - deleterious(0) 5 Unknown subst g.131705912G>T - 5.460 - SLC22A5_000072 MSCV_0001063 rs72552726 - ; clinvar; ensembl; 15617188;23757202 - - - -
./. - - c.248G>T - - - - - 5 Unknown - g.131705912G>T - - - SLC22A5_000072 MSCV_0001063 - - ; clinvar; - - - - -
./. - - c.250_251insACCGGCTCGCC - - - - - 5 Unknown - g.131705914_131705915insACCGGCTCGCC - - - SLC22A5_000192 MSCV_0021386 - - ; clinvar; - - - - -
./. - - c.250_251insACCGGCTCGCCACC - - - - - 5 Unknown - g.131705914_131705915insACCGGCTCGCCACC - - - SLC22A5_000277 - - - ; clinvar; - - - - Lishuang Shen
./. - - c.252C>G - - - - - 5 Unknown - g.131705916C>G - - - SLC22A5_000278 - - - ; clinvar; - - - - Lishuang Shen
./. - 1/10 c.253_254insGGCTCGCCACC p.(Ile89Glyfs*45) - frameshift_variant - - 5 Unknown ins g.131705917_131705918insGGCTCGCCACC - - - SLC22A5_000114 MSCV_0005237 rs377767449 - ; ensembl; 11715001 - - - -
?/? - - c.264_265insGGCTCGCCACC p.(Ile89Glyfs*45) - - - - 5 Unknown ins g.131705928_131705929insGGCTCGCCACC - - - SLC22A5_000115 MSCV_0001065 - - ; - - - - -
./. - - c.265A>G - - - - - 5 Unknown - g.131705929A>G - - - SLC22A5_000279 - - - ; clinvar; - - - - Lishuang Shen
./. - 1/10 c.265_266insGGCTCGCCACC p.(Ile89Argfs*45) - frameshift_variant - - 5 Unknown ins g.131705929_131705930insGGCTCGCCACC - - - SLC22A5_000026 MSCV_0005236 rs386134189 - ; ensembl; - - - - -
./. - - c.265_266insGGCTCGCCACC - - - - - 5 Unknown - g.131705929_131705930insGGCTCGCCACC - - - SLC22A5_000026 MSCV_0001066 - - ; clinvar; - - - - -
./. - - c.272A>G - - - - - 5 Unknown - g.131705936A>G - - - SLC22A5_000193 MSCV_0021388 - - ; clinvar; - - - - -
+/+ - 1/10 c.278C>G p.(Ser93Trp) probably_damaging(0.999) missense_variant - deleterious(0) 5 Unknown subst g.131705942C>G - 5.460 - SLC22A5_000027 MSCV_0001067 rs386134190 - ; clinvar; ensembl; - - - - -
./. - - c.278C>G - - - - - 5 Unknown - g.131705942C>G - - - SLC22A5_000027 MSCV_0001067 - - ; clinvar; - - - - -
./. - - c.279G>C - - - - - 5 Unknown - g.131705943G>C - - - SLC22A5_000194 MSCV_0021390 - - ; clinvar; - - - - -
+/+ - 1/10 c.283C>G p.(Leu95Val) benign(0.41) missense_variant - tolerated(0.34) 5 Unknown subst g.131705947C>G - 4.560 - SLC22A5_000028 MSCV_0001068 rs386134191 - ; clinvar; ensembl; - - - - -
./. - - c.283C>G - - - - - 5 Unknown - g.131705947C>G - - - SLC22A5_000028 MSCV_0001068 - - ; clinvar; - - - - -
./. - - c.285T>C - - - - - 5 Unknown - g.131705949T>C - - - SLC22A5_000195 MSCV_0021393 - - ; clinvar; - - - - -
+/+ - 1/10 c.287G>C p.(Gly96Ala) probably_damaging(0.984) missense_variant - deleterious(0.01) 5 Unknown subst g.131705951G>C - 5.460 - SLC22A5_000029 MSCV_0001069 rs377767450 - ; clinvar; ensembl; - - - - -
./. - - c.287G>C - - - - - 5 Unknown - g.131705951G>C - - - SLC22A5_000029 MSCV_0001069 - - ; clinvar; - - - - -
./. - - c.338G>A - - - - - 5 Unknown - g.131706002G>A - - - SLC22A5_000196 MSCV_0021395 - - ; clinvar; - - - - -
+/+ - 1/10 c.344A>G p.(Asp115Gly) possibly_damaging(0.794) missense_variant - deleterious(0.01) 5 Unknown subst g.131706008A>G - 5.460 - SLC22A5_000030 MSCV_0001070 rs386134192 - ; clinvar; ensembl; - - - - -
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