Transcript #00000137

Transcript name solute carrier family 26 (sulfate transporter), member 2
Gene name SLC26A2 (solute carrier family 26 (sulfate transporter), member 2)
Chromosome 5
Transcript - NCBI ID NM_000112.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000103.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

106 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-183G>C likely benign r.(?) p.(=)
+/+ 1i c.-26+2T>C - r.[0,=] p.[0,=]
+/. - c.-26+2T>C pathogenic r.spl? p.?
+/+ 2 c.47C>G - r.(47c>g) p.(Ser16*)
+/+ 2 c.55G>T - r.(55g>u) p.(Gly19*)
-?/. - c.229A>C likely benign r.(?) p.(Asn77His)
?/. 2 c.229A>C - r.(?) p.(Asn77His)
+?/+? 2 c.229A>C - r.(229a>c) p.(Asn77His)
+/+ 2 c.255delC - r.(255delc) p.(Asn87Ilefs*2)
+?/. - c.294G>A likely pathogenic r.(?) p.(Trp98*)
?/. - c.299C>G VUS r.(?) p.(Pro100Arg)
+?/+? 2 c.331G>T - r.(331g>u) p.(Asp111Tyr)
+?/. 2 c.344G>C likely pathogenic r.(?) p.(Gly115Ala)
+/. - c.391del pathogenic r.(?) p.(Leu131Cysfs*41)
+?/+? 2 c.403C>A - r.(403c>a) p.(Gln135Lys)
-?/. - c.474T>C likely benign r.(?) p.(=)
+?/+? 2 c.496G>A - r.(496g>a) p.(Gly166Arg)
+/. - c.532C>T pathogenic r.(?) p.(Arg178*)
+/+ 2 c.532C>T - r.(532c>u) p.(Arg178*)
+/. - c.532C>T pathogenic r.(?) p.(Arg178*)
-?/. - c.595A>G likely benign r.(?) p.(Asn199Asp)
+?/+? 3 c.700-1G>C - r.spl? p.?
+/+ 3 c.705_711delGATGGGC - r.(705_711delgaugggc) p.(Met236Serfs*16)
+/+ 3 c.764G>A - r.(764g>a) p.(Gly255Glu)
+/. - c.776G>T pathogenic r.(?) p.(Gly259Val)
?/. - c.782C>G VUS r.(?) p.(Ser261Cys)
+?/. - c.835C>T likely pathogenic r.(?) p.(Arg279Trp)
+/+ 3 c.835C>T - r.(835C>T) p.(Arg279Trp)
+/. - c.835C>T pathogenic r.(?) p.(Arg279Trp)
+/+ 3 c.906_907delCT - r.(906_907delcu) p.(Cys303*)
?/. - c.931T>C VUS r.(?) p.(Cys311Arg)
-?/. - c.987T>C likely benign r.(?) p.(=)
+/+ 3 c.1018_1020delGTT - r.(1018_1020delguu) p.(Val341del)
+/. - c.1020_1022del pathogenic r.(?) p.(Val341del)
+?/+? 3 c.1157C>T - r.(1157c>u) p.(Ala386Val)
+/+ 3 c.1242_1245delAAAC - r.(1242_1245delaaac) p.(Asn415Argfs*44)
+/. - c.1273A>G pathogenic r.(?) p.(Asn425Asp)
+/+ 3 c.1273A>G - r.(1273a>g) p.(Asn425Asp)
+?/+? 3 c.1361A>C - r.(1361a>c) p.(Gln454Pro)
+/+ 3 c.1394delT - r.(1394delu) p.(Leu465Cysfs*5)
+/. - c.1435C>T pathogenic r.(?) p.(Gln479*)
+/. - c.1448T>C ACMG: 5 r.(?) p.(Leu483Pro)
+?/+? 3 c.1451G>A - r.(1451g>a) p.(Gly484Asp)
-?/. - c.1474C>T likely benign r.(?) p.(Arg492Trp)
-/. - c.1474C>T benign r.(?) p.(Arg492Trp)
?/. 3 c.1474C>T - r.(?) p.(Arg492Trp)
?/. 3 c.1474C>T - r.(?) p.(Arg492Trp)
?/. 3 c.1474C>T - r.(?) p.(Arg492Trp)
-/. - c.1474C>T benign r.(?) p.(Arg492Trp)
+?/+? 3 c.1474C>T - r.(1474c>u) p.(Arg492Trp)
?/. - c.1532A>T VUS r.(?) p.(Asp511Val)
+/. - c.1535C>A pathogenic r.(?) p.(Thr512Lys)
+/+ 3 c.1535C>A - r.1535c>a p.Thr512Lys
+/+ 3 c.1650delG - r.(1650delg) p.(Ser551Valfs*34)
-/. - c.1721T>C benign r.(?) p.(Ile574Thr)
-/. - c.1721T>C benign r.(?) p.(Ile574Thr)
?/? 3 c.1721T>C - r.(1721u>c) p.(Ile574Thr)
-/. - c.1721T>C benign r.(?) p.(Ile574Thr)
-/. - c.1721T>C benign r.(?) p.(Ile574Thr)
+/+ 3 c.1724delA - r.(1724dela) p.(Lys575Serfs*10)
+/. - c.1806_1809del pathogenic r.(?) p.(Thr603Serfs*5)
+?/. 3 c.1905del likely pathogenic r.(?) p.(Met635Ilefs*15)
+/. - c.1957T>A pathogenic r.(?) p.(Cys653Ser)
+?/+? 3 c.1957T>A - r.(1957u>a) p.(Cys653Ser)
?/. - c.1957T>A VUS r.(?) p.(Cys653Ser)
+/+ 3 c.1976delT - r.(1976delu) p.(Leu659*)
+/+ 3 c.1983delA - r.(1983dela) p.(Ala662Glnfs*6)
+?/+? 3 c.1994A>C - r.(1994a>c) p.(His665Pro)
-/. - c.2065A>T benign r.(?) p.(Thr689Ser)
-/. - c.2065A>T benign r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser)
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