All transcript variants in gene PMS2

Information The variants shown are described using the NM_000535.5 transcript reference sequence.

1264 entries on 13 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 10 c.1004A>T - r.(?) p.(Asn335Ile) - - g.6029571T>A - Haraldsdottir et al. Accepted into Nature Communications PMS2_000021 0.03 Carrier frequency in Iceland (%): 0.03; Odds ratio for CRC (95%CI): 1.38 (0.24-7.97) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 c.11C>G - r.(?) p.(Ala4Gly) - - g.6048640G>C - Haraldsdottir et al. Accepted into Nature Communications PMS2_000018 0.04 Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 2.64 (0.62-11.2) Germline (inherited) - Sigurdis Haraldsdottir
?/? 11 c.1437C>G - r.(?) p.(His479Gln) Class 3 - g.6026959G>C - Haraldsdottir et al. Accepted into Nature Communications PMS2_000063 0.3 Carrier frequency in Iceland (%): 0.3; Odds ratio for CRC (95%CI): 1.12 (0.58-2.15) Germline (inherited) - Sigurdis Haraldsdottir
?/? 11 c.1450C>A - r.(?) p.(Pro484Thr) - - g.6026946G>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000022 0.04 Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 0.02 (0-4.18) Germline (inherited) - Sigurdis Haraldsdottir
?/? 11 c.1552G>A - r.(?) p.(Glu518Lys) - - g.6026844C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000023 0.33 Carrier frequency in Iceland (%): 0.33; Odds ratio for CRC (95%CI): 1.62 (0.95-2.77) Germline (inherited) - Sigurdis Haraldsdottir
?/? 11 c.1981G>A - r.(?) p.(Glu661Lys) - - g.6026415C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000024 0.29 Carrier frequency in Iceland (%): 0.29; Odds ratio for CRC (95%CI): 1.04 (0.52-2.06) Germline (inherited) - Sigurdis Haraldsdottir
?/? 12 c.2113G>A - r.(?) p.(Glu705Lys) Class 3 - g.6022516C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000135 - Found in 1 patient Germline (inherited) - Sigurdis Haraldsdottir
?/? 3 c.211_214del - r.(?) p.(Asn71Aspfs*4) - - g.6043639_6043642del - Haraldsdottir et al. Accepted into Nature Communications PMS2_000312 - Found in 1 patient Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 c.2T>A - r.(?) p.0? - - g.6048649A>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000017 - Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 c.2T>A - r.(?) p.Met1? - - g.6048649A>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000017 - Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 c.2T>A - r.(?) p.Met1? - - g.6048649A>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000017 - Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) Germline (inherited) - Sigurdis Haraldsdottir
?/? 5 c.475G>A - r.(?) p.(Val159Met) - - g.6042146C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000019 0.05 Carrier frequency in Iceland (%): 0.05; Odds ratio for CRC (95%CI): 0.96 (0.15-6.31) Germline (inherited) - Sigurdis Haraldsdottir
?/-? 2 c.52A>G - r.(?) p.(Ile18Val) Class 2 - g.6045634T>C - Haraldsdottir et al. Accepted into Nature Communications PMS2_000009 1.73 Carrier frequency in Iceland (%): 1.73; Odds ratio for CRC (95%CI): 0.9 (0.67-1.21) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.(Pro246Cysfs*3) - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - Sigurdis Haraldsdottir
?/? 8 c.898G>C - r.(?) p.(Ala300Pro) - - g.6035170C>G - Haraldsdottir et al. Accepted into Nature Communications PMS2_000020 0.03 Carrier frequency in Iceland (%): 0.03; Odds ratio for CRC (95%CI): 0.02 (0-8.04) Germline (inherited) - Sigurdis Haraldsdottir
+/. - c.(1144+1_1145 -1)_(2006+1_2007-1)dup duplication exons 11-12 r.(?) p.? - - g.6026390-?_6027251+?dup - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr7_000029 - - Germline (inherited) - Stephanie Baert-Desurmont
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - g.(?_6012870)_(6027252_6029430)del - {microatt:1002690, Carli Tops} PMS2_000270 - del ex 11_15, 36116 nt Germline (inherited) - InSiGHT group
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - g.(?_6012870)_(6027252_6029430)del - {microatt:1002691, Carli Tops} PMS2_000270 - - Germline (inherited) - InSiGHT group
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - g.(?_6012870)_(6027252_6029430)del - {microatt:1002692, Carli Tops} PMS2_000270 - - Germline (inherited) - InSiGHT group
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - g.(?_6012870)_(6027252_6029430)del - {microatt:1002693, Carli Tops} PMS2_000270 - - Germline (inherited) - InSiGHT group
+/+ 4i_15_ c.(353+1_354-1)_(*160_?)del del ex (3-)5-15 r.(?) p.? Class 5 - g.(?_6012870)_(6042268_6043320)del - van der Klift et al., 2010 PMS2_000209 - exon 3 and 4 not in MLPA - could be in the deletion Germline (inherited) - Carli Tops
+/? 5i_6i c.(537+1_538-1)_(705+1_706-1) - r.? p? - - g.(6037055_6038738)_(6038907_6042083)del - - PMS2_000293 - - Germline (inherited) - José Luis Soto
?/+ 8i_15_ c.(903+1_904-1)_(*160_?)del - r.(?) p.? Class 5 - g.(?_6012870)_(6031689_6035164)del - Will et al., 2007 PMS2_000197 - severe colorectal cancer, multiple adenomas along with mental retardation, dysmorphic features and cafe-au-lait spots. This deletion involves exons 9-15 of PMS2 and coding regions of genes oncomodulin, TRIAD3 and FSCN1. Germline (inherited) - Michael Woods
?/+ 8i_15_ c.(903+1_904-1)_(*160_?)del - r.(?) p.? Class 5 - g.(?_6012870)_(6031689_6035164)del - Will et al., 2007 PMS2_000197 - severe colorectal cancer, multiple adenomas along with mental retardation, dysmorphic features and cafe-au-lait spots. This deletion involves exons 9-15 of PMS2 and coding regions of genes oncomodulin, TRIAD3 and FSCN1. Germline (inherited) - Michael Woods
?/+ 8i_15_ c.(903+1_904-1)_(*160_?)del - r.(?) p.? Class 5 - g.(?_6012870)_(6031689_6035164)del - Will et al., 2007 PMS2_000197 - This deletion involves exons 9-15 of PMS2 (g.(?_5,597,458)_(5,998,620_?)del), as well as the coding regions of genes oncomodulin, TRIAD3 and FSCN1. Germline (inherited) - Michael Woods
?/+ 9i_15_ c.(988+1_989-1)_(*160_?)del - r.(?) p.? Class 5 - g.(?_6012870)_(6029587_6031603)del - Borras et al., 2013 PMS2_000248 - - Germline (inherited) - Gabriel Capellá
+/+ _1_15_ c.(?_-87)_(*160_?)del del ex1_15 r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - van der Klift et al., 2005, Hendriks et al., 2006 PMS2_000007 - - Germline (inherited) - Juul Wijnen
?/+ _1_15_ c.(?_-87)_(*160_?)del Deletion of Exon 1-15 r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - Senter et al., 2008; Tomsic et al., 2012 PMS2_000007 - - Germline (inherited) - Michael Woods
?/+ _1_15_ c.(?_-87)_(*160_?)del Deletion of Exon 1-15 r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - Senter et al., 2008; Tomsic et al., 2012 PMS2_000007 - - Germline (inherited) - Michael Woods
?/+ _1_15_ c.(?_-87)_(*160_?)del deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del). r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - Hendriks et al., 2006 PMS2_000007 - - Germline (inherited) - Michael Woods
?/+ _1_15_ c.(?_-87)_(*160_?)del Deletion of PMS2 r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - Overbeek et al., 2007; Tomsic et al., 2012 PMS2_000007 - - Germline (inherited) - Michael Woods
+/+ _1_15_ c.(?_-87)_(*160_?)del del ex 1-15, dupPMS2CL r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - van der Klift et al., 2010 PMS2_000007 - - Germline (inherited) - Carli Tops
?/+ _1_15_ c.(?_-87)_(*160_?)del PMS2 exon 1-15 del r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - Thompson et al., 2013; Tomsic et al., 2012; Senter et al., 2008 PMS2_000007 - - Germline (inherited) - Mark Jenkins
?/+ _1_15_ c.(?_-87)_(*160_?)del MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del - {microatt:1003407, Mark Jenkins} PMS2_000007 - - Germline (inherited) - InSiGHT group
+/+ - c.(?_-87)_(*160_?)del c.1-?_2586+?del Whole gene deletion r.(?) p.? Class 5 - g.6012870_6048737del - Lagerstedt-Robinson et al. 2016 chr7_000018 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del del ex01-10 r.(?) p.? Class 5 - g.(6027252_6029430)_(6048737_?)del - - PMS2_000179 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del ex01_ex10del r.(?) p.? Class 5 - g.(6027252_6029430)_(6048737_?)del - - PMS2_000179 - - Germline (inherited) - Beate Dr. Betz
?/+ 1 c.(?_-87)_(23+1_24-1)del Deletion of Exon 1 r.(?) p.? Class 5 - g.(6045663_6048627)_(6048737_?)del - Senter et al., 2008 PMS2_000044 - - Germline (inherited) - Michael Woods
?/- 15 c.*17G>C 1621G>A (E541K) r.(=) p.(=) Class 1 - g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - Michael Woods
?/- 15 c.*17G>C - r.(=) p.(=) Class 1 - g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - Michael Woods
?/- 15 c.*17G>C - r.(=) p.(=) Class 1 - g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - Michael Woods
?/- 15 c.*17G>C - r.(=) p.(=) Class 1 - g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/- 15 c.*92dup 780G>C (S260S), 1621G>A (E541K) r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/- 15 c.*92dup 1621G>A (E541K) r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/- 15 c.*92dup 780G>C (Ser260Ser) r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/+ 11_15 c.1145-1350_*20545del g.54564-54582_41826-41844del r.? p.? Class 5 - g.5992485_6028601del - van der Klift et al., 2005, Hendriks et al., 2006; van der Klift et al., 2010 PMS2_000334 - - Germline (inherited) - Carli Tops
?/? 11 c.1875A>Y Leu625Phe r.(?) p.(Leu625Phe) N/A - g.6026521T>R - Balogh et al., 2003 PMS2_000227 - Idenitified in MCF-10F breast epithelial transform cells. Somatic - Michael Woods
+/? 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - r.? p.? - - g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - PMS2_000326 - - Unknown - Julia Vogt
+/? 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - r.? p.? - - g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - PMS2_000326 - - Unknown - Julia Vogt
?/- _1 c.-2559T>A - r.(=) p.(=) Class 1 - g.6051209A>T - Jeske et al., 2008 PMS2_000158 - -2472 from transcription start site Germline (inherited) - Michael Woods
?/- _1 c.-2146C>A - r.(=) p.(=) Class 1 - g.6050796G>T - Jeske et al., 2008 PMS2_000136 - -2059 from the transcription start site Germline (inherited) - Michael Woods
?/? _1 c.-963A>G - r.(?) p.(=) Class 3 - g.6049613T>C - Jeske et al., 2008 PMS2_000199 - -876 from the transcription start site; allele possibly playing a functional role in familial hyperaldosteronism type II (FH-II) Germline (inherited) - Michael Woods
?/? _1 c.-340G>T - r.(?) p.(=) Class 3 - g.6048990C>A - Hendriks et al., 2006 PMS2_000001 - - Germline (inherited) - Juul Wijnen
?/- _1 c.-323G>T - r.(=) p.(=) Class 1 - g.6048973C>A - Hendriks et al., 2006 PMS2_000002 - - Germline (inherited) - Juul Wijnen
?/- _1 c.-195T>C - r.(=) p.(=) Class 1 - g.6048845A>G - Hendriks et al., 2006 PMS2_000003 - - Germline (inherited) - Juul Wijnen
?/- _1 c.-195T>C - r.(=) p.(=) Class 1 - g.6048845A>G - Thompson et al., 2004 PMS2_000003 - - Germline (inherited) - Michael Woods
?/- _1 c.-154C>G - r.(=) p.(=) Class 1 - g.6048804G>C - Hendriks et al., 2006 PMS2_000004 - - Germline (inherited) - Juul Wijnen
?/- _1 c.-154C>G - r.(=) p.(=) Class 1 - g.6048804G>C - Thompson et al., 2004 PMS2_000004 - - Germline (inherited) - Michael Woods
?/? _1 c.-120del - r.(?) p.(=) N/A - g.6048770del - Miyaki et al., 1997 PMS2_000052 - - Somatic - Michael Woods
?/? _1 c.-101A>G - r.(?) p.(=) Class 3 - g.6048751T>C - Hendriks et al., 2006 PMS2_000005 - - Germline (inherited) - Juul Wijnen
-?/- _1 c.-93G>A - r.(=) p.(=) Class 1 - g.6048743C>T - - PMS2_000241 - allele is trancsribed Germline (inherited) - Carli Tops
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del c.-87-?_2174+?del/Del exon 1-12 r.? p.? Not classified - g.(6018328_6022454)_(6048737_?)del - - PMS2_000366 - - Germline (inherited) - Thomas v. O. Hansen
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del c.-87-?_2445+?del /Deletion af exon 1-14 r.? p.? Not classified - g.(6013174_6017218)_(6048737_?)del - - PMS2_000367 - - Germline (inherited) - Thomas v. O. Hansen
?/. 1 c.-77delC - r.? p.? - - g.6048727delC - - PMS2_000374 - - Unknown - BARBARA LUISA SOARES
?/. 1 c.-53G>A c.-53G>A r.(=) p.(=) Not classified - g.6048703C>T - - PMS2_000375 - - Germline (inherited) - Thomas v. O. Hansen
+/? 1 c.1A>G - r.? p.0? - - g.6048650T>C - - PMS2_000256 - ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
?/+? 1 c.1A>G - r.(?) p.? Class 4 - g.6048650T>C - Senter et al., 2008 PMS2_000256 - - Germline (inherited) - Michael Woods
?/+? 1 c.1A>G - r.(?) p.? Class 4 - g.6048650T>C - Senter et al., 2008 PMS2_000256 - - Germline (inherited) - Michael Woods
?/+? 1 c.1A>G - r.(?) p.? Class 4 - g.6048650T>C - Senter et al., 2008 PMS2_000256 - - Germline (inherited) - Michael Woods
?/+? 1 c.1A>G - r.(?) p.? Class 4 - g.6048650T>C - Borras et al., 2013 PMS2_000256 - - Germline (inherited) - Gabriel Capellá
?/+? 1 c.1A>G c.1A>G r.(?) p.? Class 4 - g.6048650T>C - {microatt:1000399, Mark Jenkins; John Hopper} PMS2_000256 - - Germline (inherited) - InSiGHT group
?/+? 1 c.1A>G c.1A>G r.(?) p.? Class 4 - g.6048650T>C - {microatt:1000586, Mark Jenkins; John Hopper} PMS2_000256 - - Germline (inherited) - InSiGHT group
+/+? 1 c.1A>G - r.(?) p.? Class 4 - g.6048650T>C - Ian Berry, Leeds Genetics Laboratory PMS2_000256 - - Germline (inherited) - Ian Berry
?/+? 1 c.1A>G c.1A>G r.? p.Met1Val Class 4 - g.6048650T>C - - PMS2_000256 - - Germline (inherited) - Thomas v. O. Hansen
-?/. 1i c.23+10G>C c.23+10G>C r.(=) p.(=) Not classified - g.6048618C>G - - PMS2_000340 - - Germline (inherited) - Thomas v. O. Hansen
?/. 1i c.23+72C>T c.23+72C>T r.(?) p.? - - g.6048556G>A - InSiGHT, Rossi et al. 2017 chr7_000001 - WT MaxEntScan score: 8.7; Variant MaxEntScan score: 8.7; Difference in MaxEntScan score between variant and WT (%): 0 Germline (inherited) - MEV DOMINGUEZ VALENTIN
+/+ 1i_2 c.24-12_107delinsAAAT - r.24_163del p.Ser8Argfs*5 Class 5 - g.6045579_6045674delinsATTT - van der Klift et al., 2010 PMS2_000205 - 96bp deletion across intron1-exon2 border Germline (inherited) - Carli Tops
+/+ 1i_2 c.24-12_107delinsAAAT - r.24_163del p.Ser8Argfs*5 Class 5 - g.6045579_6045674delinsATTT - van der Klift et al., 2010 PMS2_000205 - 96bp deletion across intron1-exon2 border Germline (inherited) - Carli Tops
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - g.6045579_6045674delinsATTT - {microatt:1002659, Carli Tops} PMS2_000205 - 96bp deletion acros intron1-exon2 border Germline (inherited) - InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - g.6045579_6045674delinsATTT - {microatt:1002660, Carli Tops} PMS2_000205 - 96bp deletion acros intron1-exon2 border Germline (inherited) - InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - g.6045579_6045674delinsATTT - {microatt:1002661, Carli Tops} PMS2_000205 - - Germline (inherited) - InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - g.6045579_6045674delinsATTT - {microatt:1002662, Carli Tops} PMS2_000205 - - Germline (inherited) - InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - g.6045579_6045674delinsATTT - {microatt:1002663, Carli Tops} PMS2_000205 - - Germline (inherited) - InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT PMS2:c.24-12_107delinsAAAT r.(?) p.? Class 5 - g.6045579_6045674delinsATTT - {microatt:1003465, Fiona Lalloo} PMS2_000205 - - Germline (inherited) - InSiGHT group
+/? 1i_2 c.24-12_107delinsAAAT - r.? p.? - - g.6045579_6045674delinsATTT - - PMS2_000205 - ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
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