Unique variants in gene AR

Information The variants shown are described using the NM_000044.3 transcript reference sequence.

626 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

P-domain     

Enzyme activity     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 1 c.(1580_1581)G>A - r.(?) p.(Trp527*) N-term - g.? - - - AR_000000 - Hyytinen et al. Lab Invest. 82: 1591-1598, 2002 - Somatic - - - - - Bruce Gottlieb
+/. 1 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 - PubMed: Ahmed 2000 - Germline - - - - - Bruce Gottlieb
+/. 1 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 - PubMed: Hiort 1996 - Germline - - - - - Bruce Gottlieb
+/. 1 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 deletion breakpoints not yet defined Trifiro et al. Mol Cell Endocrinol 75: 37-47, 1991 - Germline - - - - - Bruce Gottlieb
+/. 1 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 - Quigley et al. J Clin Endocrinol Metab 74: 927-933, 1992 - Germline - - - - - Bruce Gottlieb
+/. 1 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term Bmax normal; kD normal g.? - - - AR_000450 CAG8; normal maternal uncle CAG23 Kooy et al. Am J Med Genet 85: 389-393. 1999 - Germline - - - - - Bruce Gottlieb
+/. 1 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 expansion of Gln repeat >40 LaSpada et al. Nature 352: 77-79, 1991 - Germline - - - - - Bruce Gottlieb
+/. 4 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 contraction of Gln repeat (20 to 18) Urushibata et al. 10th. Int. Cong. Endocrinol Abstr. P3-706, 1996, 2 more items - Somatic - - - - - Bruce Gottlieb
+/. 1 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 contraction of Gln repeat (24 to 18) Schoenberg et al. Biochem Biophys Res Comm 198: 74-80 1994 - Somatic - - - - - Bruce Gottlieb
-?/. 2 1 c.1351GGY[11] - r.(?) p.(Gly462_Gly473del) - - g.? - Gly11 - AR_000368 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[13] - r.(?) p.(Gly464_Gly473del) - Bmax low; kD high g.? - Gly13 - AR_000005 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
-?/. 2 1 c.1351GGY[14] - r.(?) p.(Gly465_Gly473del) - - g.? - Gly14 - AR_000005 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[15] - r.(?) p.(Gly466_Gly473del) - Bmax zero g.? - Gly15 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
-?/. 4 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high, Bmax zero, Bmax normal; kD high; k normal g.? - Gly16 - AR_000005 - PubMed: Gottlieb 1999, Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993, PubMed: Shkolny 1995, 1 more item - Germline - - - - - Bruce Gottlieb
-?/. 31 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero, Bmax low; kD low, Bmax low; kD normal, Bmax normal g.? - Gly17 - AR_000005 - PubMed: Audi 2010, Wong et al. Mol Cell Endocrinol 292: 69-78, 2008, 1 more item - Germline - - - - - Bruce Gottlieb
-?/. 25 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero, Bmax low; kD normal, Bmax low; kD high g.? - Gly18 - AR_000005 - PubMed: Audi 2010, Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - - - Bruce Gottlieb
-?/. 5 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - Bmax zero, Bmax normal; kD normal g.? - Gly19 - AR_000005 - PubMed: Shkolny 1995, PubMed: Audi 2010, Prior et al. Am J Hum Genet 51: 143, 1992, 2 more items - Germline, Somatic - - - - - Bruce Gottlieb
-?/. 2 1 c.1351GGY[22] - r.(?) p.(Gly473del) - Bmax low; k normal g.? - Gly22 - AR_000005 - PubMed: Pinsky 1992, Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999 - Germline - - - - - Bruce Gottlieb
-?/. 11 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax normal; kD high, Bmax v low, Bmax v low; kD normal, Bmax normal; kD normal; k normal, Bmax zero, 1 more item g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999, PubMed: Hellwinkel 2001, PubMed: Shkolny 1999, PubMed: Ghadessy 1999, 3 more items - Germline, Somatic - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[25] - r.(?) p.(Gly472_Gly473dup) - Bmax zero g.? - Gly25 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[26] - r.(?) p.(Gly471_Gly473dup) - Bmax zero g.? - Gly26 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[27] - r.(?) p.(Gly470_Gly473dup) - - g.? - Gly27 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[28] - r.(?) p.(Gly469_Gly473dup) - Bmax zero g.? - Gly28 - AR_000005 - PubMed: Holterhus 2005b - Germline - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[4] - r.(?) p.(Gly455_Gly473del) - Bmax normal; kD high g.? - Gly4 - AR_000369 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
-?/. 1 1 c.1351GGY[9] - r.(?) p.(Gly460_Gly473del) - - g.? - Gly9 - AR_000005 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.1500T>? - r.(?) p.(=) N-term - g.? - (Pro500Pro) - AR_000509 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.1526>G - r.(?) p.(Val509Gly) N-term - g.? - 2641>G - AR_000511 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - Somatic - - - - - Bruce Gottlieb
+/. 1 1i_8 c.1617-?_(*436_?)del - r.(?) p.? - Bmax zero g.? - - - AR_000140 - PubMed: Jakubiczka 1997 - Germline - - - - - Bruce Gottlieb
+/. 1 2i_8 c.1769-?_(*436_?)del - r.(?) p.? - - g.? - - - AR_000110 - PubMed: Brown 1993 - Germline - - - - - Bruce Gottlieb
+/. 1 3i_8 c.1886-?_(*436_?)del - r.(?) p.? LBD Bmax zero g.? - - - AR_000409 - Brown et al. Proc Natl Acad Sci 85: 8151, 1988 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.209>G - r.(?) p.(Gln70Arg) N-term - g.? - 1324>G - AR_000344 CAG22 in blood azoospermia Sertoli Cell only Syndrome; Gln20, 21 and 23 PubMed: Hose 2009 - Germline - - - - - Bruce Gottlieb
+/., +/+, ?/., -/- 34 ?, 1, 2i, 3, 4, 5, 7, 8, 2 c.? - r.(?), r.spl?, r.1769_1885del p.?, p.(Gly489fs*), p.(Val716*), 142, p.(Tyr?Arg), p.(Arg761fs*), p.(Asn849fs*), p.(Val867fs*), p.(=), 7 more items N-term, DBD, LBD, 3' UTR Bmax low, Bmax zero, Bmax zero; kD zero, Bmax high; kD normal g.? - 1034T>G, insATG, (Arg761Arg) - AR_000000 neg. N/C interaction, higher express variant in 7/13 breast cancer, ATG insertion at codon 869, AR23, 2 more items PubMed: Melo 2005, PubMed: Ahmed 2000, PubMed: Boehmer 2001, PubMed: Bouvattier 2002, 16 more items - Germline, Somatic - - - - - Lucy Raymond, Bruce Gottlieb
+/. 1 1 c.?C>T - r.(?) p.(=) N-term - g.? - 2558C>T (Tyr481Tyr) - AR_000000 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - Somatic - - - - - Bruce Gottlieb
+/. 2 5, 3 c.?del - r.(?) p.?, p.(fs*) LBD, N-term Bmax zero g.? - codon 598 1 nt del - AR_000000 affected aunt exon 6-7deletion only Maclean et al. J Clin Invest, 91: 1123, 1993, PubMed: Komori 1997 - Germline - - - - - Bruce Gottlieb
+/. 2 2i, 2 c.?del17 - r.(?), r.spl? p.?, p.(His541fs*) DBD Bmax normal; kD high g.? - - - AR_000000 deletion ~6 kb intron 2, affects splicing PubMed: Boehmer 2001, PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.-912C>A - r.(?) p.(=) - - g.66764077C>A - 203C>A - AR_000148 pos +214 from transcription initiation site AR-TIS II PubMed: Crocitto 1997 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.-800G>T - r.(?) p.? - - g.66764189G>T - (415G>T) - AR_000147 pos +2 from transcription initiation site AR-TIS II PubMed: Crocitto 1997 - Germline - - - - - Bruce Gottlieb
+/., +/+ 2 1 c.4G>A - r.(?) p.(Glu2Lys) N-term Bmax low; kD high, k high g.66764992G>A - 1119G>A - AR_000136 variant protein 20-50% reduced PubMed: Audi 2010, PubMed: Choong 1996 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.19delC - r.(?) p.(Leu7fs*) N-term - g.66765007delC - 1134delC - AR_000328 - PubMed: Barbaro 2007 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.39_42dup - r.(?) p.(Pro15fs*) N-term - g.66765027_66765030dup - 1154_1157dupGCCG - AR_000398 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.82C>T - r.(?) p.(Q28X - - g.66765070C>T - - - AR_000315 - PubMed: Katayama 2006 - Germline - - - - - Lucy Raymond
+/. 1 1 c.115_117del - r.(?) p.(Pro39del) N-term - g.66765103_66765105del - 1230_1232delCCC - AR_000446 - Jung et al. Human Genetics 114: 222, 2004 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.118delA - r.(?) p.(Arg40fs*) N-term - g.66765106delA - 1233delA - AR_000420 - Decaestecker et al.Fertility & Sterility 89: 1260 e3-7, 2008 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.125delC - r.(?) p.(Pro42fs*) N-term Bmax zero g.66765113delC - 1240delC - AR_000234 - PubMed: Boehmer 2001 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.128A>G - r.(?) p.(Glu43Gly) N-term - g.66765116A>G - 1243A>G - AR_000499 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.161T>C - r.(?) p.(Leu54Ser) N-term - g.66765149T>C - 1276T>C - AR_000549 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.163_164insC - r.(?) p.(Leu55fs*) N-term - g.66765151_66765152insC - 1278_1279insC - AR_000353 - PubMed: Philibert 2009 - Germline - - - - - Bruce Gottlieb
+/. 3 1 c.170T>A - r.(?) p.(Leu57Gln) N-term - g.66765158T>A - 1285T>A - AR_000411 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996, Yeh et al. Int J Cancer 120: 1610-1617, 2007, 1 more item - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.170_172del - r.(?) p.(Leu57del) N-term - g.66765158_66765160del - 1284_1286delCTG - AR_000421 seminoma Garolla et al. Encdorine Related Cancer 12: 645-655, 2005 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.170_172dup - r.(?) p.(Leu57dup) N-term - g.66765158_66765160dup - - - AR_000323 - PubMed: Ferlin 2006 - Germline - - - - - Bruce Gottlieb
?/. 2 1 c.172_174[11] - r.(?) p.(Gln70_Gln80del) - Bmax normal; kD high; thermolabile, Bmax zero g.66765160_66765162 - Gln12 - AR_000004 - McPhaul et al.J Clin Inv 87: 1413,1991: Batch&al Arc Dis Ch 68: 453 1993, PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
?/. 1 1 c.172_174[12] - r.(?) p.(Gln71_Gln80del) - - g.66765160_66765162 - Gln13 - AR_000004 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
?/. 3 1 c.172_174[13] - r.(?) p.(Gln72_Gln80del) - - g.66765160_66765162 - Gln14 - AR_000004 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008, Boehmer et al. Am J Hum Genetics 60: 1003-6, 1997, 1 more item - Germline - - - - - Bruce Gottlieb
?/. 1 1 c.172_174[14] - r.(?) p.(Gln73_Gln80del) - Bmax zero g.66765160_66765162 - Gln15 - AR_000004 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
?/. 3 1 c.172_174[15] - r.(?) p.(Gln74_Gln80del) - Bmax zero, Bmax normal; kD normal g.66765160_66765162 - Gln16 - AR_000004 - PubMed: Melo 2003, Chen et al. The Prostate 63: 395-406, 2005 - Germline, Somatic - - - - - Bruce Gottlieb
?/. 1 1 c.172_174[16] - r.(?) p.(Gln75_Gln80del) - - g.66765160_66765162 - Gln17 - AR_000004 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
?/. 10 1i, 1, 3, 5, 7 c.172_174[17] - r.(?) p.(Gln76_Gln80del) - Bmax zero; kD zero, Bmax low; kD normal, Bmax normal; kD high; k high; thermolabile g.66765160_66765162 - Gln18 - AR_000004 - Wallin et al. J Pathology 189: 559-653, 1999, PubMed: Audi 2010, PubMed: MacLean 2004, 2 more items - Somatic, Germline - - - - - Bruce Gottlieb
?/. 20 1, 5, 8, 2, 4, 6, 7 c.172_174[18] - r.(?) p.(Gln77_Gln80del) - Bmax normal; kD high, Bmax low; kD normal, Bmax zero; kD zero, Bmax normal, Bmax zero, 2 more items g.66765160_66765162 - Gln19 - AR_000004 - PubMed: Gottlieb 1999, Ko et al. J Reprod. Med 42: 424- 427, 1997, PubMed: Knoke 1999, 5 more items - Germline - - - - - Bruce Gottlieb
?/. 19 1, 5, 6, 7, 4, 3 c.172_174[19] - r.(?) p.(Gln78_Gln80del) - Bmax normal; kD high, Bmax zero, Bmax normal; kD high; k high, Bmax normal, Bmax zero; kD zero, 2 more items g.66765160_66765162 - Gln20 - AR_000004 - PubMed: Gottlieb 1999, Hyytinen et al. Lab Invest. 82: 1591-1598, 2002, PubMed: Pinsky 1992, 6 more items - Germline, Somatic - - - - - Bruce Gottlieb
?/. 23 1, 2, 8, 7, 4, 5, 6 c.172_174[20] - r.(?) p.(Gln79_Gln80del) - Bmax normal; kD normal, Bmax v low; kD normal, Bmax normal; kD high, Bmax zero, Bmax v low, Bmax low, 1 more item g.66765160_66765162 - Gln21 - AR_000004 - PubMed: Gottlieb 1999, PubMed: Boehmer 2001, PubMed: Hellwinkel 2001, PubMed: Saunders 1992, 10 more items - Germline, Somatic - - - - - Bruce Gottlieb
?/. 14 4, 1, 1i, 7, 2, 8, 5 c.172_174[21] - r.(?) p.(Gln80del) - Bmax zero, Bmax v low, Bmax low; k normal, Bmax normal, Bmax normal; kD normal, Bmax low; kD normal, 1 more item g.66765160_66765162 - Gln22 - AR_000004 - PubMed: Melo 2005, PubMed: Gottlieb 1999, PubMed: Pinsky 1992, PubMed: Audi 2010, PubMed: MacLean 2004, 4 more items - Germline, Somatic - - - - - Bruce Gottlieb
?/. 10 7, 1, 6, 1i, 2, 5, 3, 8 c.172_174[23] - r.(?) p.(Gln80dup) - Bmax normal; kD normal, Bmax normal; kD normal; k high; thermolabile g.66765160_66765162 - Gln24 - AR_000004 - PubMed: Pinsky 1992, Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999, PubMed: Audi 2010, 5 more items - Germline, Somatic - - - - - Bruce Gottlieb
?/. 9 7, 5, 3, 8, 1 c.172_174[24] - r.(?) p.(Gln79_Gln80dup) - Bmax normal; kD high, Bmax normal; kD normal; k high, Bmax low; kD high, Bmax zero g.66765160_66765162 - Gln25 - AR_000004 - PubMed: Saunders 1992, PubMed: Shkolny 1999, Beitel et al. Hum Mol Genet, 3: 21-27, 1994, 3 more items - Germline - - - - - Bruce Gottlieb
?/. 10 8, 7, 6, 2, 2i, 1 c.172_174[25] - r.(?) p.(Gln78_Gln80dup) - Bmax low; kD high, Bmax zero, Bmax normal; kD normal; k normal, Bmax normal; kD normal g.66765160_66765162 - Gln26 - AR_000004 - PubMed: Peters 1999, PubMed: Shkolny 1995, PubMed: Shkolny 1999, PubMed: Audi 2010, 2 more items - Germline - - - - - Bruce Gottlieb
?/. 10 8, 5, 1, 6, 3, 4 c.172_174[26] - r.(?) p.(Gln77_Gln80dup) - Bmax normal; kD high, Bmax normal; kD normal; k normal, Bmax zero, Bmax low; kD high, Bmax low, 1 more item g.66765160_66765162 - Gln27 - AR_000004 - PubMed: Pinsky 1992, Ko et al. J Reprod. Med 42: 424- 427, 1997, PubMed: Wang 1998, PubMed: Audi 2010, 5 more items - Germline, Somatic - - - - - Bruce Gottlieb
?/. 4 4, 6i, 7, 1 c.172_174[27] - r.(?) p.(Gln76_Gln80dup) - Bmax low; kD normal, Bmax zero to normal, Bmax zero g.66765160_66765162 - Gln28 - AR_000004 - Werner et al. J Clin Endocrinol Metab 91: 3515-3520, 2006, PubMed: Audi 2010, PubMed: Melo 2003, 1 more item - Germline - - - - - Bruce Gottlieb
?/. 1 2 c.172_174[28] - r.(?) p.(Gln75_Gln80dup) - - g.66765160_66765162 - Gln29 - AR_000373 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
?/. 2 4, 6 c.172_174[29] - r.(?) p.(Gln74_Gln80dup) - Bmax low g.66765160_66765162 - Gln30 - AR_000268 - Werner et al. J Clin Endocrinol Metab 91: 3515-3520, 2006, PubMed: Melo 2003 - Germline - - - - - Bruce Gottlieb
?/. 2 1i, 7 c.172_174[7] - r.(?) p.(Gln66_Gln80del) - Bmax normal; kD normal g.66765160_66765162 - Gln8 - AR_000374 - Kooy et al. Am J Med Genet 85: 389-393. 1999, PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
+/., ?/. 6 1 c.173A>T - r.(?) p.(Gln58Leu) N-term, DBD - g.66765161A>T - 1288A>T - AR_000267 - PubMed: Lund 2003, Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - Germline, Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.175C>T - r.(?) p.(Gln59*) N-term Bmax zero g.66765163C>T - 1291C>T - AR_000308 - PubMed: Holterhus 2005b - Germline - - - - - Bruce Gottlieb
+/+ 2 1 c.178C>T - r.(?) p.(Gln60*) N-term Bmax low; kD normal; k high g.66765166C>T - 1293C>T - AR_000115 normal upregulation PubMed: Bouvattier 2002, PubMed: Zoppi 1993 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.179dupA - r.(?) p.(Gln60fs*) N-term - g.66765167dupA - 1294dupA - AR_000576 either 1 nt insert or 2 nt del Zhu et al. J Clin Endocrinol Metab 84: 1590-1594, 1999 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.188A>G - r.(?) p.(Gln64Arg) N-term - g.66765176A>G - 1303A>G - AR_000551 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.196C>T - r.(?) p.(Gln67*) N-term - g.66765184C>T - 1311C>T - AR_000335 - PubMed: Cheikhelard 2008 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.199C>T - r.(?) p.(Gln67*) - - g.66765187C>T - - - AR_000336 - PubMed: Cheikhelard 2008 - Germline - - - - - Lucy Raymond
+/. 1 1 c.208C>T - r.(?) p.(Gln70*) N-term - g.66765196C>T - 1323C>T - AR_000354 - PubMed: Philibert 2009 - Germline - - - - - Bruce Gottlieb
+/. 1 4 c.212A>G - r.(?) p.(Gln71Arg) - - g.66765200A>G - - - AR_000345 - PubMed: Hose 2009 - Germline - - - - - Lucy Raymond
+/. 1 1 c.217C>T - r.(?) p.(Gln73*) N-term - g.66765205C>T - 1332C>T - AR_000470 somatic mosaicism, 2/3 variant and 1/3 wt Mueller et al. Hum Genet 119: 681, 2006 - Somatic - - - - - Bruce Gottlieb
+/. 2 1 c.226C>T - r.(?) p.(Gln76*) N-term - g.66765214C>T - 1341C>T - AR_000355 truncated CAG repeat? PubMed: Philibert 2009, PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.227delA - r.(?) p.(fs*) N-term - g.66765215delA - 1342delA - AR_000356 - PubMed: Philibert 2009 - Germline - - - - - Bruce Gottlieb
./. 1 1 c.172_174[20] - r.(?) p.(Gln78)[20] - - g.66765219_66765227del - NM_000044.3(AR):c.231_239del p.(Gln78_Gln80del) - AR_000581 variant could not be associated with disease phenotype Vogelaar, submitted - Germline - - - - - Marjolijn JL Ligtenberg
./. 1 1 c.172_174[21] - r.(?) p.(Gln78)[21] - - g.66765222_66765227del - NM_000044.3(AR):c.234_239del p.(Gln79_Gln80del) - AR_000582 variant could not be associated with disease phenotype Vogelaar, submitted - Germline - - - - - Marjolijn JL Ligtenberg
+/. 1 1 c.238C>T ACMG 5 r.(?) p.(Gln80*) - - g.66765226C>T - - - AR_000600 - Trujillano et al., submitted - Germline - - - - - Daniel Trujillano
+/. 1 1 c.240A>G - r.(?) p.(=) N-term - g.66765228A>G - 1355A>G (Gln80Gln) - AR_000572 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.240dupA - r.(?) p.(Glu81fs*) N-term - g.66765228dupA - 1355_1356insA - AR_000390 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.244_248del - r.(?) p.(Thr82fs*) N-term - g.66765232_66765236del - 1359_1363delACTAG - AR_000357 - PubMed: Philibert 2009 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.256C>T - r.(?) p.(Gln86*) N-term Bmax low; kD high g.66765244C>T - 1371C>T - AR_000394 - PubMed: Audi 2010 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.257dupA - r.(?) p.(Gln87fs*) N-term Bmax zero g.66765245dupA - 1372_1373insA - AR_000184 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.262C>T - r.(?) p.(Gln88*) N-term Bmax zero g.66765250C>T - 1377C>T - AR_000314 - PubMed: Jaaskelainen 2006 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.268C>T - r.(?) p.(Gln90*) N-term - g.66765256C>T - 1383C>T - AR_000250 - PubMed: Bouvattier 2002 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.270G>T - r.(?) p.(Gln90His) N-term - g.66765258G>T - 1385G>T - AR_000573 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - Somatic - - - - - Bruce Gottlieb
?/., +/. 7 1 c.271_273del - r.(?) p.(Gln86del), p.(Gln91del) N-term, DBD, LBD - g.66765259_66765261del - 1371_1373delCAG - AR_000517 AR23 splice variant Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.279G>Y - r.(?) p.(Glu93Asp) N-term - g.66765267G>Y - - - AR_000414 AR independant Chelnski et al. The Prostate 47: 66-75, 2001 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.302G>A - r.(?) p.(Arg101His) N-term - g.66765290G>A - 1417G>A - AR_000574 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.312delC - r.(?) p.(Pro104fs*) N-term Bmax zero g.66765300delC - 1427delC - AR_000186 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.325_326insA - r.(?) p.(Val109fs*) N-term - g.66765313_66765314insA - 1440_1441insA - AR_000358 - PubMed: Philibert 2009 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.342G>T - r.(?) p.(Gln114His) N-term - g.66765330G>T - 1457G>T - AR_000560 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 - Somatic - - - - - Bruce Gottlieb
+/. 1 1 c.343C>T - r.(?) p.(Gln115*) N-term - g.66765331C>T - 1458C>T - AR_000187 - PubMed: Gottlieb 1999 - Germline - - - - - Bruce Gottlieb
+/. 1 1 c.358C>T - r.(?) p.(Gln120*) N-term - g.66765346C>T - 1473C>T - AR_000327 - PubMed: Berg 2007 - Germline - - - - - Bruce Gottlieb
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