All transcript variants in gene SLC26A3

Information The variants shown are described using the NM_000111.2 transcript reference sequence.

133 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/+? _1_1i c.-211-?_-89+?del - r.? p.? g.(?_107443556)_(107443678_?)del g.107803111_107803233del 8.6 kb deletion: Exon 1 deletion - SLC26A3_000110 1 Swedish DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 2 c.119A>G - r.(?) p.(Lys40Arg) g.107434836T>C g.107794391T>C - - SLC26A3_000053 - PubMed: Wedenoja 2011 - rs78133952 Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 2i c.131+2_131+3ins288 - r.? p.? g.107434821_107434822ins288 - c.131+2_131+3insU14569.1 - SLC26A3_000083 1 Qatar DIAR1 patient; 288 bp sequence U14569.1 (genebank no) is inserted between bases c.131+2 and c.131+3 PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 2i c.131+2_131+3insU14569.1 - r.(?) p.(=) g.107434821_107434822insU14569.1 - - - SLC26A3_000071 Intron donor site change PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
?/? 3 c.145_157del - r.(?) p.(Lys49Leufs*8) g.107434301_107434313del g.107793856_107793868del - - SLC26A3_000001 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 3 c.145_157del - r.(145_157del) p.(Lys49Leufs*8) g.107434301_107434313del g.107793856_107793868del c.145-157del13bp - SLC26A3_000001 2 Belgian siblings (Togo ancestry; hom) with DIAR1 PubMed: Makela et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
./. - c.167_168del - r.(?) p.(Ser56Phefs*14) g.107434290_107434291del g.107793845_107793846del NM_000111.2(SLC26A3):c.167_168del p.(Ser56Phefs*14) - SLC26A3_000139 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
+?/+? 3 c.177dup - r.(177dup) p.(Ile60Hisfs*11) g.107434281dup g.107793836dup c.177-178insC - SLC26A3_000104 1 North American DIAR1 patient (com-het) PubMed: Höglung et al. 1998 - - SUMMARY record yes - - - - Anne Polvi
?/? 3 c.203G>A - r.(?) p.(Arg68Gln) g.107434255C>T g.107793810C>T - - SLC26A3_000054 - PubMed: Wedenoja 2011 - rs10280704 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 3 c.269_270insAA - r.(?) p.(Gly91Lysfs*3) g.107434188_107434189insTT g.107793743_107793744insTT - - SLC26A3_000003 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 3 c.269_270insAA - r.(269_270insaa) p.(Gly91Lysfs*3) g.107434188_107434189insTT g.107793743_107793744insTT c.268-269insAA - SLC26A3_000003 3 sisters from Hong Kong (com-het) with DIAR1 PubMed: Höglung et al. 1998b - - SUMMARY record yes - - - - Anne Polvi
?/? 3i_8i c.271+?_972-?del - r.(?) p.(Gly91Aspfs*17) g.107423797_107434187del g.107783352_107793742del - - SLC26A3_000072 7 kb deletion; Exon 4 to 8 deletion PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 3i_8i c.272-?_971+?del - r.(272_971del) p.(Gly91Aspfs*17) g.(?_107427272)_(107432385_?)del g.107786827_107791940del 7 kb deletion: Exon 4 to 8 deletion - SLC26A3_000115 1 Austrian DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 4 c.332del - r.(?) p.(Phe111Serfs*4) g.107432325del g.107791880del - - SLC26A3_000004 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 4 c.332del - r.(332del) p.(Phe111Serfs*4) g.107432325del g.107791880del c.332del - SLC26A3_000004 1 Swedish DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 4 c.332T>C - r.(?) p.(Phe111Ser) g.107432325A>G g.107791880A>G - - SLC26A3_000055 - PubMed: Wedenoja 2011 - rs75733585 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 4 c.344del - r.(?) p.(Ile115Thrfs*19) g.107432313del g.107791868del - - SLC26A3_000005 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 4 c.344delT - r.(344delu) p.(Ile115Thrfs*19) g.107432313delA g.107791868delA c.344delT - SLC26A3_000117 2 Polish DIAR1 families ( 1 hom and 1 het) PubMed: Höglung et al. 1996 - - SUMMARY record yes 0/159 CON - - - Anne Polvi
?/? 4 c.357C>T - r.(=) p.(=) g.107432300G>A g.107791855G>A - - SLC26A3_000056 - PubMed: Wedenoja 2011 - rs73419912 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 4 c.358G>A - r.(?) p.(Gly120Ser) g.107432299C>T g.107791854C>T - - SLC26A3_000006 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 4 c.358G>A - r.(358g>a) p.(Gly120Ser) g.107432299C>T g.107791854C>T c.358G>A - SLC26A3_000006 1 Polish, 1 Swedish and 1 Norwegian DIAR1 family (all com-het) PubMed: Höglung et al. 1998, PubMed: Höglung et al. 2001b - - SUMMARY record yes 0/100 CON - - - Anne Polvi
?/? 4 c.371A>T - r.(?) p.(His124Leu) g.107432286T>A g.107791841T>A - - SLC26A3_000007 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 4 c.371A>T - r.(371a>u) p.(His124Leu) g.107432286T>A g.107791841T>A c.371A>T - SLC26A3_000007 3 Polish (2 com-het) and 1 French DIAR1 family PubMed: Höglung et al. 1996, PubMed: Makela et al. 2002, PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 5 c.386C>T - r.(?) p.(Pro129Leu) g.107431677G>A g.107791232G>A - - SLC26A3_000008 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5 c.386C>T - r.(386c>u) p.(Pro129Leu) g.107431677G>A g.107791232G>A c.386C>T - SLC26A3_000008 1 Austrian DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 5 c.392C>G - r.(?) p.(Pro131Arg) g.107431671G>C g.107791226G>C - - SLC26A3_000010 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5 c.392C>G - r.(392c>g) p.(Pro131Arg) g.107431671G>C g.107791226G>C c.392C>A - SLC26A3_000010 2 North American DIAR1 patients (1 com-het and 1 het) PubMed: Höglung et al. 1998 - - SUMMARY record yes - - - - Anne Polvi
?/? 5 c.392C>T - r.(?) p.(Pro131Leu) g.107431671G>A g.107791226G>A - - SLC26A3_000011 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5 c.392C>T - r.(392c>u) p.(Pro131Leu) g.107431671G>A g.107791226G>A c.392C>T - SLC26A3_000011 1 American DIAR1 patient and 2 Korean siblings with DIAR1 PubMed: Wedenoja et al. 2011, PubMed: Hong et al. 2013 - - SUMMARY record yes - - 0 - Anne Polvi
?/? 5 c.392del - r.(?) p.(Pro131Argfs*3) g.107431671del g.107791226del - - SLC26A3_000009 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5 c.392del - r.(392del) p.(Pro131Argfs*3) g.107431671del g.107791226del c.392del - SLC26A3_000009 1 Austrian DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 5 c.401G>A - r.(?) p.(Ser134Asn) g.107431662C>T g.107791217C>T r.(401g>a) - SLC26A3_000136 1 Korean DIAR1 patient (com-het) PubMed: Hong et al. 2013 - - SUMMARY record yes - - 0 - Anne Polvi
?/? 5 c.408G>A - r.(?) p.(Met136Ile) g.107431655C>T g.107791210C>T - - SLC26A3_000012 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5 c.408G>A - r.(408g>a) p.(Met136Ile) g.107431655C>T g.107791210C>T c.408G>A - SLC26A3_000012 1 English DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 5 c.514G>A - r.(?) p.(Glu172Lys) g.107431549C>T g.107791104C>T - - SLC26A3_000057 - PubMed: Wedenoja 2011 - rs71566741 Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5 c.525G>C - r.(525g>c) p.(Arg175Ser) g.107431538C>G g.107791093C>G c.525G>C: p.Arg175 Ser - SLC26A3_000125 1 Korean DIAR1 patient (com-het) PubMed: Lee et al 2012 - - SUMMARY record yes 0/188 CON - - - Anne Polvi
?/? 5 c.559G>T - r.(?) p.(Gly187*) g.107431504C>A g.107791059C>A - - SLC26A3_000013 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5 c.559G>T - r.(559g>u) p.(Gly187*) g.107431504C>A g.107791059C>A c.559G>T - SLC26A3_000013 Arabic major DIAR1 mutation: >20 Kuwaiti and Saudi Arabian DIAR1 patients. Also patient from UK. PubMed: Höglung et al. 1998b, PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 5 c.571-2A>G - r.(=) p.(=) g.107430135T>C g.107789690T>C - - SLC26A3_000014 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5i c.571-2A>G - r.spl? p.? g.107430135T>C g.107789690T>C IVS5-2A>G - SLC26A3_000014 1 Canadian DIAR1 patient (com-het) PubMed: Höglung et al. 1998b - - SUMMARY record yes - - - - Anne Polvi
?/? 5 c.571-1G>T - r.(=) p.(=) g.107430134C>A g.107789689C>A - - SLC26A3_000015 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 5i c.571-1G>T - r.spl? p.? g.107430134C>A g.107789689C>A IVS5-1G>T - SLC26A3_000015 1 North American DIAR1 patient (com-het) PubMed: Höglung et al. 1998b - - SUMMARY record yes - - - - Anne Polvi
?/? 6 c.610T>G - r.(?) p.(Tyr204Asp) g.107430094A>C g.107789649A>C - - SLC26A3_000016 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 6 c.610T>G - r.(610u>g) p.(Tyr204Asp) g.107430094A>C g.107789649A>C c.610T>G - SLC26A3_000016 1 Spanish DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 6 c.616T>C - r.(?) p.(Ser206Pro) g.107430088A>G g.107789643A>G - - SLC26A3_000017 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 6 c.616T>C - r.(616u>c) p.(Ser206Pro) g.107430088A>G g.107789643A>G c.616A>C: S206P - SLC26A3_000017 1 Dutch DIAR1 family (Moroccan ancestry) PubMed: Höglung et al. 2001b - - SUMMARY record yes - - - - Anne Polvi
?/? 6 c.659A>C - r.(?) p.(His220Pro) g.107430045T>G g.107789600T>G - - SLC26A3_000018 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 6 c.659A>C - r.(659a>c) p.(His220Pro) g.107430045T>G g.107789600T>G 659A>C - SLC26A3_000018 2 Andalusian (southern Spain) sibs (com-het) and 1 Spanish patient with DIAR1 PubMed: Rodriques-Herrera et al. 2011, PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 6i_8i c.735+?_972-?del - r.(?) p.(Val246Ilefs*8) g.107423797_107429969del g.107783352_107789524del - - SLC26A3_000073 3.5 kb deletion, Exon 7 to 8 deletion PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+/. 6i_8i c.735+4_735+7delAGTA - r.571_735del p.Leu191_Lys245delinsVal g.107429962_107429965delTACT g.107789517_107789520delTACT - - SLC26A3_000138 - - - - Germline - - - 0 - Felice Amato
+?/+? 6i_8i c.736-?_971+?del - r.(736_971del) p.(Val246Ilefs*8) g.(?_107427272)_(107427954_?)del g.107786827_107787509del 3.5 kb genomic deletion: EX7-8del - SLC26A3_000132 2 Japanese siblings (hom) with DIAR1 PubMed: Höglung et al. 2001b - - SUMMARY record yes - - - - Anne Polvi
?/? 8 c.915C>A - r.(?) p.(Tyr305*) g.107427328G>T g.107786883G>T - - SLC26A3_000019 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 8 c.915C>A - r.(915c>a) p.(Tyr305*) g.107427328G>T g.107786883G>T Y305X - SLC26A3_000019 2 Polish DIAR1 families ( 1 hom and 1 com-het) PubMed: Höglung et al. 1998 - - SUMMARY record yes - - - - Anne Polvi
?/? 8 c.921T>G - r.(?) p.(Cys307Trp) g.107427322A>C g.107786877A>C - - SLC26A3_000058 - PubMed: Wedenoja 2011 - rs34407351 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 8 c.923A>G - r.(?) p.(Asp308Gly) g.107427320T>C g.107786875T>C - - SLC26A3_000059 - PubMed: Wedenoja 2011 - rs80222394 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 8 c.950T>G - r.(?) p.(Val317Gly) g.107427293A>C g.107786848A>C - - SLC26A3_000060 - PubMed: Wedenoja 2011 - rs78983942 Unknown - - - - - Ivo F.A.C. Fokkema
+/+ 8 c.951_953delGGT - r.(951_953delggu) p.(Val318del) g.107427290_107427292delACC g.107786845_107786847delACC c.951delGGT - SLC26A3_000134 Finnish major DIAR1 mutation. 45 Finnish (and Swedish) DIAR1 patients PubMed: Höglung et al. 1996, PubMed: Wedenoja et al. 2011 - - SUMMARY record yes 3/436 FIN (het) - - - Anne Polvi
+/. 8i c.971+3_971+4delAA - r.spl? p.? g.107427268_107427269delTT g.107786823_107786824delTT - - SLC26A3_000137 - - - - Germline - - - 0 - Felice Amato
?/? 9 c.996C>T - r.(=) p.(=) g.107423773G>A g.107783328G>A - - SLC26A3_000061 - PubMed: Wedenoja 2011 - rs35576676 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 9 c.1028G>A - r.(?) p.(Cys343Tyr) g.107423741C>T g.107783296C>T - - SLC26A3_000021 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 9 c.1028G>A - r.(1028g>a) p.(Cys343Tyr) g.107423741C>T g.107783296C>T c.1028G>A - SLC26A3_000021 1 French DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 9 c.1030_1047delinsGATGCC - r.(?) p.(Phe344_Val349delinsAspAla) g.107423722_107423739delinsGGCATC g.107783277_107783294delinsGGCATC - - SLC26A3_000022 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 9 c.1030_1047delinsGATGCC - r.(1030_1047delinsgaugcc) p.(Phe344_Val349delinsAspAla) g.107423722_107423739delinsGGCATC g.107783277_107783294delinsGGCATC c.1030_1047delinsGATGCC - SLC26A3_000022 1 Polish DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 9 c.1047+3A>C - r.spl? p.? g.107423719T>G g.107783274T>G - - SLC26A3_000135 1 Korean DIAR1 patient (com-het) PubMed: Hong et al. 2013 - - SUMMARY record yes - - 0 - Anne Polvi
?/? 10 c.1136G>C - r.(?) p.(Gly379Ala) g.107423522C>G g.107783077C>G - - SLC26A3_000023 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 10 c.1136G>C - r.(1136g>c) p.(Gly379Ala) g.107423522C>G g.107783077C>G c.1136G>C - SLC26A3_000023 1 British DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 10 c.1148_1149del - r.(?) p.(Ile383Serfs*74) g.107423509_107423510del g.107783064_107783065del - - SLC26A3_000024 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+/+ 10 c.1148_1149delTA - r.(1148_1149delua) p.(Ile383Serfs*74) g.107423509_107423510delTA g.107783064_107783065delTA deletion at 1148–1149 of a TA dinucleotide: frameshift, truncated protein product 455 amino acids long - SLC26A3_000080 2 Andalusian (southern Spain) sibs (com-het) and 1 Spanish DIAR1 patient PubMed: Rodriques-Herrera et al. 2011, PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 10 c.1193C>T - r.(?) p.(Ser398Phe) g.107423465G>A g.107783020G>A - - SLC26A3_000025 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 10 c.1193C>T - r.(1193c>u) p.(Ser398Phe) g.107423465G>A g.107783020G>A c.1193C>T - SLC26A3_000025 1 Austrian DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 11 c.1299G>A - r.(=) p.(=) g.107423254C>T g.107782809C>T - - SLC26A3_000062 - PubMed: Wedenoja 2011 - rs3735605 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 11 c.1306C>T - r.(?) p.(Gln436*) g.107423247G>A g.107782802G>A - - SLC26A3_000026 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 11 c.1306C>T - r.(1306c>u) p.(Gln436*) g.107423247G>A g.107782802G>A c.1306C>T - SLC26A3_000026 1 Dutch DIAR1 patient (hom) PubMed: Höglung et al. 2001b - - SUMMARY record yes 0/132 CON - - - Anne Polvi
?/? 11 c.1312-1G>A - r.(?) p.(=) g.107420209C>T g.107779764C>T - - SLC26A3_000027 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 11i c.1312-1G>A - r.spl? p.? g.107420209C>T g.107779764C>T IVS11-1G>A - SLC26A3_000027 1 Polish DIAR1 family (com-het) PubMed: Höglung et al. 1998b - - SUMMARY record yes - - - - Anne Polvi
?/? 12 c.1314C>T - r.(=) p.(=) g.107420206G>A g.107779761G>A - - SLC26A3_000063 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
?/? 12 c.1342_1343del - r.(?) p.(Leu448Lysfs*9) g.107420177_107420178del g.107779732_107779733del - - SLC26A3_000028 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 12 c.1342_1343del - r.(1342_1343del) p.(Leu448Lysfs*9) g.107420177_107420178del g.107779732_107779733del c.1342_1343del - SLC26A3_000028 1 Japanese DIAR1 patient PubMed: Makela et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
?/? 12 c.1360C>T - r.(?) p.(Gln454*) g.107420160G>A g.107779715G>A - - SLC26A3_000029 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 12 c.1360C>T - r.(1360c>u) p.(Gln454*) g.107420160G>A g.107779715G>A c.1360C>T - SLC26A3_000029 1 Canadian DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 12 c.1362del - r.(?) p.(Gln454Hisfs*5) g.107420158del g.107779713del - - SLC26A3_000030 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 12 c.1362del - r.(1362del) p.(Gln454Hisfs*5) g.107420158del g.107779713del c.1362del - SLC26A3_000030 3 DIAR1 patients (Belgium, Turkey) PubMed: Choi et al. 2009, PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 12 c.1386G>A - r.(?) p.(Trp462*) g.107420134C>T g.107779689C>T - - SLC26A3_000031 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 12 c.1386G>A - r.(1386g>a) p.(Trp462*) g.107420134C>T g.107779689C>T - - SLC26A3_000031 1 British DIAR1 family (Arabic ancestry; hom) PubMed: Makela et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
?/? 12 c.1387C>T - r.(?) p.(Arg463*) g.107420133G>A g.107779688G>A - - SLC26A3_000032 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 12 c.1387C>T - r.(1387c>u) p.(Arg463*) g.107420133G>A g.107779688G>A c.1387C>T - SLC26A3_000032 1 French DIAR1 patient PubMed: Wedenoja et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
?/? 12 c.1403A>T - r.(?) p.(Asp468Val) g.107420117T>A g.107779672T>A - - SLC26A3_000033 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 12 c.1403A>T - r.(1403a>u) p.(Asp468Val) g.107420117T>A g.107779672T>A c.1403A>T - SLC26A3_000033 1 Polish DIAR1 patient (com-het) PubMed: Höglung et al. 2001b - - SUMMARY record yes 0/48 CON - - - Anne Polvi
+?/+? 12i c.1408-1G>A - r.spl? p.? g.107418727C>T g.107778282C>T IVS12-1G>C - SLC26A3_000091 2 German (Palestinian) sibs (hom) with DIAR1 PubMed: Höglung et al. 2001b - - SUMMARY record yes 0/116 CON - - - Anne Polvi
?/? 13 c.1408-1G>C - r.(=) p.(=) g.107418727C>G g.107778282C>G - - SLC26A3_000034 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
?/? 13 c.1487T>G - r.(?) p.(Leu496Arg) g.107418647A>C g.107778202A>C - - SLC26A3_000035 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 13 c.1487T>G - r.(1487u>g) p.(Leu496Arg) g.107418647A>C g.107778202A>C - - SLC26A3_000035 3 sisters from Hong Kong (com-het) with DIAR1 PubMed: Höglung et al. 1998b - - SUMMARY record yes - - - - Anne Polvi
?/? 13i c.1515-2del - r.(=) p.(=) g.107417153del g.107776708del - - SLC26A3_000036 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 13i c.1515-2delA - r.spl? p.? g.107417153delT g.107776708delT IVS13-2delA - SLC26A3_000094 1 Kuwaiti DIAR1 patient (hom) PubMed: Höglung et al. 2001b - - SUMMARY record yes 0/77 CON - - - Anne Polvi
?/? 14 c.1517del - r.(?) p.(Pro506Glnfs*30) g.107417149del g.107776704del - - SLC26A3_000037 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 14 c.1517delC - r.(1517delc) p.(Pro506Glnfs*30) g.107417149delG g.107776704delG c.1516delC - SLC26A3_000095 1 Polish DIAR1 family (com-het) PubMed: Höglung et al. 1998 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 14 c.1526_1527delGC - r.(1526_1527delgc) p.(Ser509Asnfs*4) g.107417139_107417140delGC g.107776694_107776695delGC 1526-1527delTT at codon 509: frameshift and permature stop at codon 517 (no TT in this or nearby position) - SLC26A3_000096 1 Japanese DIAR1 family (hom) {PMID:Etani et al. 1998:10671059 - - SUMMARY record yes - - - - Anne Polvi
?/? 14 c.1529C>T - r.(?) p.(Thr510Met) g.107417137G>A g.107776692G>A - - SLC26A3_000064 - PubMed: Wedenoja 2011 - rs60147601 Unknown - - - - - Ivo F.A.C. Fokkema
?/? 14 c.1551_1554del - r.(?) p.(Asn518Serfs*17) g.107417112_107417115del g.107776667_107776670del - - SLC26A3_000038 - PubMed: Wedenoja 2011 - - Unknown - - - - - Ivo F.A.C. Fokkema
+?/+? 14 c.1551_1554delCAAC - r.(1551_1554delcaac) p.(Asn518Serfs*17) g.107417112_107417115delGTTG g.107776667_107776670delGTTG c.1548-1551delAACC - SLC26A3_000097 1 Polish DIAR1 family (com-het) PubMed: Höglung et al. 1998 - - SUMMARY record yes - - - - Anne Polvi
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