Full data view for gene SLC45A2

Information The variants shown are described using the NM_016180.3 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
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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.-7A>G r.(=) p.(=) g.33984695T>C Copied from the Exome Variant Server SLC45A2_000103 4/13006 4/8600 0/4406 - - - - - - -
?/? c.3G>A r.? p.? g.33984686C>T Copied from the Exome Variant Server SLC45A2_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.28_29insCCCC r.(?) p.(Arg10Profs*6) g.33984660_33984661insGGGG Copied from the Exome Variant Server SLC45A2_000101 44/12520 29/8254 15/4266 - - - - - - -
?/? c.36C>T r.(=) p.(=) g.33984653G>A Copied from the Exome Variant Server SLC45A2_000100 3/13006 0/8600 3/4406 - - - - - - -
?/? c.73G>C r.(?) p.(Val25Leu) g.33984616C>G Copied from the Exome Variant Server SLC45A2_000099 2/13006 0/8600 2/4406 - - - - - - -
?/? c.128T>C r.(?) p.(Phe43Ser) g.33984561A>G Copied from the Exome Variant Server SLC45A2_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.142T>C r.(?) p.(Cys48Arg) g.33984547A>G Copied from the Exome Variant Server SLC45A2_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.207G>C r.(=) p.(=) g.33984482C>G Copied from the Exome Variant Server SLC45A2_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.211A>G r.(?) p.(Ser71Gly) g.33984478T>C Copied from the Exome Variant Server SLC45A2_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.219G>A r.(=) p.(=) g.33984470C>T Copied from the Exome Variant Server SLC45A2_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.264C>G r.(=) p.(=) g.33984425G>C Copied from the Exome Variant Server SLC45A2_000093 3/13006 3/8600 0/4406 - - - - - - -
?/? c.264del r.(?) p.(Gly89Aspfs*24) g.33984425del Copied from the Exome Variant Server SLC45A2_000092 3/12520 2/8254 1/4266 - - - - - - -
?/? c.280C>G r.(?) p.(His94Asp) g.33984409G>C Copied from the Exome Variant Server SLC45A2_000091 2/13006 2/8600 0/4406 - - - - - - -
?/? c.310C>T r.(?) p.(Pro104Ser) g.33984379G>A Copied from the Exome Variant Server SLC45A2_000090 2/13006 1/8600 1/4406 - - - - - - -
?/? c.365A>G r.(?) p.(Asn122Ser) g.33984324T>C Copied from the Exome Variant Server SLC45A2_000089 5/13006 0/8600 5/4406 - - - - - - -
?/? c.370G>T r.(?) p.(Ala124Ser) g.33984319C>A Copied from the Exome Variant Server SLC45A2_000088 2/13004 2/8598 0/4406 - - - - - - -
?/? c.376G>A r.(?) p.(Val126Ile) g.33984313C>T Copied from the Exome Variant Server SLC45A2_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.386-51C>T r.(=) p.(=) g.33982568G>A Copied from the Exome Variant Server SLC45A2_000086 329/13000 95/8596 234/4404 - - - - - - -
?/? c.435C>A r.(=) p.(=) g.33982468G>T Copied from the Exome Variant Server SLC45A2_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.436A>C r.(?) p.(Met146Leu) g.33982467T>G Copied from the Exome Variant Server SLC45A2_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.448G>A r.(?) p.(Val150Ile) g.33982455C>T Copied from the Exome Variant Server SLC45A2_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528G>A r.(=) p.(=) g.33982375C>T Copied from the Exome Variant Server SLC45A2_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.561A>G r.(=) p.(=) g.33982342T>C Copied from the Exome Variant Server SLC45A2_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.562+24C>G r.(=) p.(=) g.33982317G>C Copied from the Exome Variant Server SLC45A2_000080 7/13006 0/8600 7/4406 - - - - - - -
?/? c.563-46A>G r.(=) p.(=) g.33964167T>C Copied from the Exome Variant Server SLC45A2_000079 1/13000 1/8596 0/4404 - - - - - - -
?/? c.563-44G>A r.(=) p.(=) g.33964165C>T Copied from the Exome Variant Server SLC45A2_000078 1/13000 1/8596 0/4404 - - - - - - -
?/? c.563-19A>T r.(=) p.(=) g.33964140T>A Copied from the Exome Variant Server SLC45A2_000077 46/13006 0/8600 46/4406 - - - - - - -
?/? c.563-17C>A r.(=) p.(=) g.33964138G>T Copied from the Exome Variant Server SLC45A2_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.563-11T>G r.(=) p.(=) g.33964132A>C Copied from the Exome Variant Server SLC45A2_000075 3/13006 0/8600 3/4406 - - - - - - -
?/? c.569G>T r.(?) p.(Gly190Val) g.33964115C>A Copied from the Exome Variant Server SLC45A2_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.585C>T r.(=) p.(=) g.33964099G>A Copied from the Exome Variant Server SLC45A2_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.606G>C r.(?) p.(Trp202Cys) g.33964078C>G Copied from the Exome Variant Server SLC45A2_000072 5/13006 2/8600 3/4406 - - - - - - -
?/? c.617_618insTGGA r.(?) p.(Glu206Aspfs*35) g.33964066_33964067insTCCA Copied from the Exome Variant Server SLC45A2_000071 1/12520 0/8254 1/4266 - - - - - - -
?/? c.621G>A r.(=) p.(=) g.33964063C>T Copied from the Exome Variant Server SLC45A2_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.633G>A r.(=) p.(=) g.33964051C>T Copied from the Exome Variant Server SLC45A2_000067 2/13006 0/8600 2/4406 - - - - - - -
?/? c.720C>T r.(=) p.(=) g.33963964G>A Copied from the Exome Variant Server SLC45A2_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754C>G r.(?) p.(Gln252Glu) g.33963930G>C Copied from the Exome Variant Server SLC45A2_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.798C>T r.(=) p.(=) g.33963886G>A Copied from the Exome Variant Server SLC45A2_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.799G>A r.(?) p.(Glu267Lys) g.33963885C>T Copied from the Exome Variant Server SLC45A2_000059 12/13006 9/8600 3/4406 - - - - - - -
?/? c.813C>T r.(=) p.(=) g.33963871G>A Copied from the Exome Variant Server SLC45A2_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.814G>A r.(?) p.(Glu272Lys) g.33963870C>T Copied from the Exome Variant Server SLC45A2_000055 364/13006 145/8600 219/4406 - - - - - - -
?/? c.835G>A r.(?) p.(Val279Ile) g.33963849C>T Copied from the Exome Variant Server SLC45A2_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.850G>A r.(?) p.(Ala284Thr) g.33963834C>T Copied from the Exome Variant Server SLC45A2_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.888+8T>C r.(=) p.(=) g.33963788A>G Copied from the Exome Variant Server SLC45A2_000049 2/13006 2/8600 0/4406 - - - - - - -
?/? c.889-40T>A r.(=) p.(=) g.33954649A>T Copied from the Exome Variant Server SLC45A2_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.892C>T r.(?) p.(Arg298Cys) g.33954606G>A Copied from the Exome Variant Server SLC45A2_000045 3/13006 2/8600 1/4406 - - - - - - -
?/? c.893G>T r.(?) p.(Arg298Leu) g.33954605C>A Copied from the Exome Variant Server SLC45A2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.900A>G r.(=) p.(=) g.33954598T>C Copied from the Exome Variant Server SLC45A2_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.952C>T r.(?) p.(Arg318Cys) g.33954546G>A Copied from the Exome Variant Server SLC45A2_000068 5/13006 0/8600 5/4406 - - - - - - -
?/? c.953G>A r.(?) p.(Arg318His) g.33954545C>T Copied from the Exome Variant Server SLC45A2_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.957C>A r.(?) p.(Tyr319*) g.33954541G>T Copied from the Exome Variant Server SLC45A2_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.972C>T r.(=) p.(=) g.33954526G>A Copied from the Exome Variant Server SLC45A2_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.987A>G N/A N/A g.33954511T>C Copied from the Exome Variant Server SLC45A2_000060 12476/13006 8516/8600 3960/4406 - - - - - - -
?/? c.994C>T r.(=) p.(=) g.33954504G>A Copied from the Exome Variant Server SLC45A2_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.995T>C r.(?) p.(Leu332Pro) g.33954503A>G Copied from the Exome Variant Server SLC45A2_000056 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1024A>G r.(?) p.(Met342Val) g.33954474T>C Copied from the Exome Variant Server SLC45A2_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1028G>A r.(?) p.(Gly343Asp) g.33954470C>T Copied from the Exome Variant Server SLC45A2_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1032+6G>T r.(=) p.(=) g.33954460C>A Copied from the Exome Variant Server SLC45A2_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1032+9C>T r.(=) p.(=) g.33954457G>A Copied from the Exome Variant Server SLC45A2_000048 147/13006 2/8600 145/4406 - - - - - - -
?/? c.1033-44C>A r.(=) p.(=) g.33951826G>T Copied from the Exome Variant Server SLC45A2_000046 278/13006 135/8600 143/4406 - - - - - - -
?/? c.1033-31G>A r.(=) p.(=) g.33951813C>T Copied from the Exome Variant Server SLC45A2_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1042C>T r.(?) p.(Arg348Cys) g.33951773G>A Copied from the Exome Variant Server SLC45A2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1045G>A r.(?) p.(Gly349Arg) g.33951770C>T Copied from the Exome Variant Server SLC45A2_000041 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1082T>C r.(?) p.(Leu361Pro) g.33951733A>G Copied from the Exome Variant Server SLC45A2_000040 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1083C>G r.(=) p.(=) g.33951732G>C Copied from the Exome Variant Server SLC45A2_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.33951726G>A Copied from the Exome Variant Server SLC45A2_000038 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1109G>A r.(?) p.(Gly370Glu) g.33951706C>T Copied from the Exome Variant Server SLC45A2_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1119C>A r.(=) p.(=) g.33951696G>T Copied from the Exome Variant Server SLC45A2_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1122G>C N/A N/A g.33951693C>G Copied from the Exome Variant Server SLC45A2_000035 9063/13006 8249/8600 814/4406 - - - - - - -
?/? c.1134C>T r.(=) p.(=) g.33951681G>A Copied from the Exome Variant Server SLC45A2_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157-49T>C r.(=) p.(=) g.33947528A>G Copied from the Exome Variant Server SLC45A2_000033 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1157-10C>T r.(=) p.(=) g.33947489G>A Copied from the Exome Variant Server SLC45A2_000032 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1196G>C r.(?) p.(Gly399Ala) g.33947440C>G Copied from the Exome Variant Server SLC45A2_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1208C>T r.(?) p.(Thr403Met) g.33947428G>A Copied from the Exome Variant Server SLC45A2_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1212A>T r.(=) p.(=) g.33947424T>A Copied from the Exome Variant Server SLC45A2_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1235C>T r.(?) p.(Thr412Met) g.33947401G>A Copied from the Exome Variant Server SLC45A2_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1254C>T r.(=) p.(=) g.33947382G>A Copied from the Exome Variant Server SLC45A2_000027 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1261G>A r.(?) p.(Val421Ile) g.33947375C>T Copied from the Exome Variant Server SLC45A2_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1273del r.(?) p.(Leu425Trpfs*9) g.33947363del Copied from the Exome Variant Server SLC45A2_000025 13/12520 13/8254 0/4266 - - - - - - -
?/? c.1336A>C r.(?) p.(Ile446Leu) g.33947300T>G Copied from the Exome Variant Server SLC45A2_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1351C>T r.(?) p.(Arg451Cys) g.33947285G>A Copied from the Exome Variant Server SLC45A2_000023 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1352G>A r.(?) p.(Arg451His) g.33947284C>T Copied from the Exome Variant Server SLC45A2_000022 7/13006 7/8600 0/4406 - - - - - - -
?/? c.1368+24C>G r.(=) p.(=) g.33947244G>C Copied from the Exome Variant Server SLC45A2_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1369-35G>A r.(=) p.(=) g.33945012C>T Copied from the Exome Variant Server SLC45A2_000020 2/13002 0/8598 2/4404 - - - - - - -
?/? c.1369-13G>A r.(=) p.(=) g.33944990C>T Copied from the Exome Variant Server SLC45A2_000019 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1404C>T r.(=) p.(=) g.33944942G>A Copied from the Exome Variant Server SLC45A2_000018 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1405G>A r.(?) p.(Val469Met) g.33944941C>T Copied from the Exome Variant Server SLC45A2_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1418del r.(?) p.(Gly473Alafs*36) g.33944928del Copied from the Exome Variant Server SLC45A2_000016 1/12520 1/8254 0/4266 - - - - - - -
?/? c.1428C>T r.(=) p.(=) g.33944918G>A Copied from the Exome Variant Server SLC45A2_000015 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1431C>T r.(=) p.(=) g.33944915G>A Copied from the Exome Variant Server SLC45A2_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1504G>A r.(?) p.(Gly502Arg) g.33944842C>T Copied from the Exome Variant Server SLC45A2_000013 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1510G>A r.(?) p.(Val504Ile) g.33944836C>T Copied from the Exome Variant Server SLC45A2_000012 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1515C>T r.(=) p.(=) g.33944831G>A Copied from the Exome Variant Server SLC45A2_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1516G>A r.(?) p.(Val506Ile) g.33944830C>T Copied from the Exome Variant Server SLC45A2_000010 4/13006 1/8600 3/4406 - - - - - - -
?/? c.1518C>T r.(=) p.(=) g.33944828G>A Copied from the Exome Variant Server SLC45A2_000009 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1519G>C r.(?) p.(Val507Leu) g.33944827C>G Copied from the Exome Variant Server SLC45A2_000008 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1522G>T r.(?) p.(Val508Leu) g.33944824C>A Copied from the Exome Variant Server SLC45A2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1538C>A r.(?) p.(Ala513Glu) g.33944808G>T Copied from the Exome Variant Server SLC45A2_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1539_1540insTCTGCG r.(?) p.(Ser512_Ala513dup) g.33944806_33944807insCGCAGA Copied from the Exome Variant Server SLC45A2_000005 1/12520 0/8254 1/4266 - - - - - - -
?/? c.1567G>A r.(?) p.(Ala523Thr) g.33944779C>T Copied from the Exome Variant Server SLC45A2_000004 1/13006 1/8600 0/4406 - - - - - - -
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