All variants in the ARG1 gene

Information The variants shown are described using the NM_000045.3 transcript reference sequence.

204 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. _1 - r.(?) p.(=) - association g.131893559G>T - -864G>T - ARG1_000038 significant association with myocardial infarction (p = 0.005), increased for GT heterozygotes (OR (95% CI) 1.5 (1.1 to 2.0)) and TT homozygotes (OR (95% CI) 2.2 (1.1 to 4.4)) PubMed: Dumont 2007 - rs2781666 Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.-79_(57+1_58-1){0} r.0? p.0? - pathogenic (recessive) g.(?_131894344)_(131894480_131897802)del - del ex1 - ARG1_000070 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.-79_(57+1_58-1){0} r.0? p.0? - pathogenic (recessive) g.(?_131894344)_(131894480_131897802)del - - - ARG1_000070 no variant 2nd chromosome PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 2i_8_ c.58-399_*424{0} r.0? p.0? - pathogenic (recessive) g.131897404_131908155del - del ex2-8 - ARG1_000097 - PubMed: Korman 2004 - - Germline - - - 0 - Johan den Dunnen
+/. - c.2T>C r.? p.(Met1?) - pathogenic (recessive) g.131894424T>C - Met1Thr - ARG1_000099 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.23T>A r.(?) p.(Ile8Lys) - pathogenic (recessive) g.131894445T>A - - - ARG1_000059 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.23T>A r.(?) p.(Ile8Lys) - pathogenic (recessive) g.131894445T>A - - - ARG1_000059 - PubMed: Amayreh 2014 - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.32T>C r.(?) p.(ile11Thr) - likely pathogenic g.131894454T>C g.131573314T>C - - ARG1_000011 - PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.32T>C r.(?) p.(ile11Thr) - NA g.131894454T>C g.131573314T>C - - ARG1_000011 E.coli expression cloning yields 0.12 protein activity PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.32T>C r.(?) p.(ile11Thr) - likely pathogenic g.131894454T>C g.131573314T>C - - ARG1_000011 - - - rs28941474 Germline - - - 0 - Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Lee 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Wu 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Cai 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.34G>T r.(?) p.(Gly12*) - pathogenic (recessive) g.131894456G>T - - - ARG1_000082 - PubMed: Wu 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.34G>T r.(?) p.(Gly12*) - pathogenic (recessive) g.131894456G>T - - - ARG1_000082 - PubMed: Zhang 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.53G>A r.(?) p.(Gly18Glu) - pathogenic (recessive) g.131894475G>A - - - ARG1_000077 - PubMed: Wu 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.57+1G>A r.spl? p.? - pathogenic g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 - PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.57+1G>A r.spl p.? - pathogenic (recessive) g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 - PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.58-3C>G r.spl? p.? - pathogenic (recessive) g.131897800C>G - IVS1-3C>G - ARG1_000056 - PubMed: Dorum 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.58-3C>G r.spl? p.? - pathogenic (recessive) g.131897800C>G - - - ARG1_000056 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Jain-Ghai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Jain-Ghai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
-/. 2 c.62G>A r.(?) p.(Arg21Gln ) - benign g.131897807G>A g.131576667G>A - - ARG1_000001 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - Johan den Dunnen
+/. - c.70del r.(?) p.(Val24Trpfs*8) - pathogenic (recessive) g.131897815del - 67delG - ARG1_000080 - PubMed: Wu 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.78del r.(?) p.(Gly27AlafsTer5) - pathogenic (recessive) g.131897823del g.131576683del - - ARG1_000005 - PubMed: Haraguchi 1990, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.78del r.(?) p.(Gly27Alafs*5) - pathogenic (recessive) g.131897823del g.131576683del - - ARG1_000005 - PubMed: Segawa 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.80G>A r.(?) p.(Gly27Asp) - pathogenic (recessive) g.131897825G>A - - - ARG1_000074 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.93del r.(?) p.(Arg32Glufs*16) - pathogenic (recessive) g.131897838del g.131576698del 93delG - ARG1_000041 - PubMed: Hertecant 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.121_122insCTT r.(?) p.(Lys41_Lys322delinsThr) - pathogenic (recessive) g.131897866_131897867insCTT - - - ARG1_000052 - PubMed: Nakajima 2021 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.124G>T r.(?) p.(Glu42*) - pathogenic (recessive) g.131897869G>T - - - ARG1_000086 - PubMed: Zhang 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.130+1G>A r.spl p.? - pathogenic (recessive) g.131897876G>A - - - ARG1_000089 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.130+1G>A r.spl p.? - pathogenic (recessive) g.131897876G>A - - - ARG1_000089 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132_146del r.(?) p.(Glu44_Lys48del) - pathogenic (recessive) g.131900252_131900266del - Glu44_Lys48del - ARG1_000062 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132_146del r.(?) p.(Glu44_Lys48del) - pathogenic (recessive) g.131900252_131900266del - - - ARG1_000062 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.206A>T r.(?) p.(Asn69Ile) - pathogenic (recessive) g.131900326A>T - - - ARG1_000083 - Mullane 2017, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.206A>T r.(?) p.(Asn69Ile) - pathogenic (recessive) g.131900326A>T - - - ARG1_000083 - Mullane 2017, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.212G>C r.(?) p.(Arg71Thr) - pathogenic (recessive) g.131900332G>C - - - ARG1_000085 - PubMed: Zhang 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.221G>T r.(?) p.(Gly74Val) - pathogenic (recessive) g.131900341G>T - - - ARG1_000073 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.223A>T - p.Lys75* - NA g.131900343A>T - K75X - ARG1_000039 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.223A>T r.(?) p.(Lys75*) - pathogenic (recessive) g.131900343A>T - - - ARG1_000039 - PubMed: Edwards 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.231C>A r.(?) p.(Ser77Arg) - pathogenic (recessive) g.131900351C>A - - - ARG1_000087 - Mustafa 2012, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.231C>T r.(?) p.(Ser77=) - likely benign g.131900351C>T g.131579211C>T ARG1(NM_001244438.1):c.255C>T (p.S85=) - ARG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.232dup r.(?) p.(Glu78Glyfs*40) - pathogenic (recessive) g.131900352dup - 232dupG - ARG1_000076 - PubMed: Wu 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.263_266del r.(?) p.(Lys88Argfs*45) - pathogenic (recessive) g.131900383_131900386del - - - ARG1_000050 - PubMed: Haraguchi 1990, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.263_266del r.(?) p.(Lys88Argfs*45) - pathogenic (recessive) g.131900383_131900386del g.131579243_131579246del - - ARG1_000050 - PubMed: Segawa 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.263_266del r.(?) p.(Lys88Argfs*45) - pathogenic (recessive) g.131900383_131900386del - 263-266delAGAA - ARG1_000050 - PubMed: Cui 2020, PubMed: Cui 2021 - - Germline - - - 0 - Johan den Dunnen
-/. 3 c.270C>T r.(?) p.(=) - benign g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - - - rs34504481 Germline - 5/94 - 0 - Johan den Dunnen
-/. 3 c.270C>T r.(?) p.(=) - benign g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - PubMed: Mitchell 2009 - - Germline - 5/94 - 0 - Johan den Dunnen
-/. - c.270C>T r.(?) p.(Asn90=) - benign g.131900390C>T g.131579250C>T ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A, MED23(NM_015979.4):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.270C>T r.(?) p.(Asn90=) - benign g.131900390C>T g.131579250C>T ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A, MED23(NM_015979.4):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.282C>G r.(?) p.(Ser94Arg) - pathogenic (recessive) g.131900402C>G - - - ARG1_000060 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.292G>A r.(?) p.(Gly98Ser) - pathogenic (recessive) g.131900412G>A - - - ARG1_000046 - PubMed: Jain-Ghai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.295G>A r.(?) p.(Gly99Arg) - pathogenic (recessive) g.131900415G>A - - - ARG1_000061 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.295G>A r.(?) p.(Gly99Arg) - pathogenic (recessive) g.131900415G>A - - - ARG1_000061 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.295G>A r.(?) p.(Gly99Arg) - pathogenic (recessive) g.131900415G>A - - - ARG1_000061 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.295G>A r.(?) p.(Gly99Arg) - pathogenic (recessive) g.131900415G>A - - - ARG1_000061 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.298G>A r.(?) p.(Asp100Asn) - pathogenic (recessive) g.131900418G>A - - - ARG1_000051 - PubMed: Nakajima 2021 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.298G>A r.(?) p.(Asp100Asn) - pathogenic (recessive) g.131900418G>A - - - ARG1_000051 - PubMed: Zhang 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.301_302delinsGG - p.His101Gly - NA g.131900421_131900422delinsGG - H101G - ARG1_000093 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 3i c.306-611T>C r.305_306ins306-620_306-496del p.Leu103fs - pathogenic (recessive) g.131901748T>C - 305+1323t > c - ARG1_000096 - PubMed: Cohen 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 3i c.306-611T>C r.305_306ins306-620_306-496del p.Leu103fs - pathogenic (recessive) g.131901748T>C - 305+1323t > c - ARG1_000096 - PubMed: Cohen 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.316G>C r.(?) p.(Gly106Arg) - pathogenic (recessive) g.131902369G>C - - - ARG1_000092 - Kuster 2015, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.336C>A r.(?) p.(Ala112=) - likely benign g.131902389C>A - - - ARG1_000068 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.365G>A r.(?) p.(Trp122*) - pathogenic g.131902418G>A g.131581278G>A - - ARG1_000008 - PubMed: Uchino 1992, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Vockley 1994 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.365G>A - p.Trp122* - NA g.131902418G>A g.131581278G>A W122X - ARG1_000008 no in vivo RBC arginase activity (<0.01) PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Amayreh 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Yokoi 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.374C>T r.(?) p.(Ala125Val) - pathogenic (recessive) g.131902427C>T - - - ARG1_000078 - PubMed: Wu 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) - pathogenic (recessive) g.131902436A>G - 382A>G - ARG1_000033 - PubMed: Vockley 1994 - - Germline - - - 0 - Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) - pathogenic (recessive) g.131902436A>G - 382A>G - ARG1_000033 - PubMed: Vockley 1994 - - Germline - - - 0 - Johan den Dunnen
+/. - c.383A>G - p.Asp128Gly - NA g.131902436A>G g.131581296A>G D128G - ARG1_000033 cDNA expression cloning E.coli no arginase activity (0.01), no in vivo RBC arginase activity (<0.02) PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.386_388del r.(?) p.(Ile129del) - pathogenic (recessive) g.131902439_131902441del - Ile129del - ARG1_000036 - PubMed: Vockley 1996 - - Germline - - - 0 - Johan den Dunnen
+/. - c.386_388del - p.Ile129del - NA g.131902439_131902441del g.131581299_131581301del dI129 - ARG1_000036 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
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