Unique variants in gene BTK

BTKbase is part of the IDbases
Information The variants shown are described using the NM_000061.2 transcript reference sequence.

916 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

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 - c.-4963G>A r.(?) likely benign p.(=) - - - - - - - - - g.100645982C>T - RPL36A(NM_001199972.1):c.59C>T (p.(Pro20Leu)) - RPL36A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 1 c.-230A>C r.(=) - p.(=) DNA substitution (VariO:0136);transversion (VariO:0316) - - Upstream much reduced - - - - g.100641249T>G g.101386261T>G -67a->c(promoter) - BTK_000309 mother is carrier PubMed: Futatani, T 2001, IDbase_AccNr: A0758 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 1 c.-193A>G r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PU1 site reduced - - - - g.100641212T>C g.101386224T>C - - BTK_000308 - PubMed: Holinski-Feder, E 1998, IDbase_AccNr: A0386 - - Unknown - - - - - Dr. Michael Weiss
+?/-? 1 1 c.(?_-193)_(-31_?)del(3500) r.? likely pathogenic p.? DNA deletion (VariO:0141) - - - - - - - - g.(?_100641050)_(100641212_?)[del(3000)] - - - BTK_000776 deletion of 3.5 kb encompassing exon 1, undefined borders Hendriks, RW; pers. comm., IDbase_AccNr: A0028 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 1 c.-193_-31del r.spl - p.? DNA deletion (VariO:0141) - - - - - - - - g.100641050_100641212del g.101386062_101386224del Exon 1 deletion - BTK_000845 - PubMed: Aadam 2016, IDbase_AccNr: A1572 - - Unknown - - - - - Qing Wang
+?/. 1 1_3 c.-193_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100629524_100641212del g.101374536_101386224del - - BTK_000777 Deletion of exon 1 to exon 3 PubMed: Singh 2016, IDbase_AccNr: A1609 - - Unknown - - - - - Qing Wang
+?/. 4 _1_19_ c.(?_-193)_(*438_?)del r.spl - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0005, PubMed: Vetrie 1993, IDbase_AccNr: A0006, 2 more items - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 1 c.-58A>G r.(=) - p.(=) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100641077T>C g.101386089T>C 5'UTR-58A>G - BTK_000307 mother is not carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1428 - - De novo - - - - - Gerard C.P. Schaafsma
+?/. 3 1i c.-31+1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100641049C>T g.101386061C>T IVS1+1G>A - BTK_000305 mother is carrier PubMed: Singh 2016, IDbase_AccNr: A1614, PubMed: Chen XF, 2016, IDbase_AccNr: A1682, 1 more item - - Unknown, Germline - - - - - Qing Wang, Gerard C.P. Schaafsma
+?/. 3 1i c.-31+1G>C r.spl - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - g.100641049C>G g.101386061C>G g.IVS1+1G>C - BTK_000306 mother is carrier PubMed: Conley, M. E 2005, IDbase_AccNr: A1078, PubMed: Conley, M. E 2005, IDbase_AccNr: A1079, 1 more item - - Unknown, Germline - - - - - Gerard C.P. Schaafsma
+?/., +?/+? 3 1i c.-31+5G>A r.(spl?) likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - g.100641045C>T g.101386057C>T - - BTK_000302 mother is carrier PubMed: Chun, J. K 2008, IDbase_AccNr: A1251, PubMed: Jo, E. K 2001, IDbase_AccNr: A0783, 1 more item - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 5 1i c.-31+5G>C r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - g.100641045C>G g.101386057C>G ivs1+5G>C - BTK_000304 splice donor defect PubMed: Abolhassani 2016, IDbase_AccNr: A1618, PubMed: Abolhassani 2016, IDbase_AccNr: A1619, 3 more items - - Unknown - - - - - Qing Wang, Asghar Aghamohammadi
+?/. 1 1i c.-31+5G>T r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - g.100641045C>A g.101386057C>A - - BTK_000303 - PubMed: Shin, D. M 2008, IDbase_AccNr: A1476 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 2 1i c.-31+6T>G r.(=) - p.(=) DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - g.100641044A>C g.101386056A>C - - BTK_000301 - PubMed: Conley, M. E 1998, IDbase_AccNr: A0471, PubMed: Conley, M. E 1998, IDbase_AccNr: A0470 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 1i_19_ c.-31+1781_*161625del r.0? pathogenic (recessive) p.0? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - g.100443248_100639269del - - - BTK_000931 196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?) PubMed: Arai 2011 - - Germline - - - - - Johan den Dunnen
+?/+? 2 1i_5i c.-31+4069_391+2400dup r.spl likely pathogenic (recessive) p.? DNA insertion (VariO:0142) - - PH absent - - - - g.100622586_100636981dup g.101367598_101381993dup - - BTK_000645 mother is carrier PubMed: Kristufek, D 2007, IDbase_AccNr: A1227, PubMed: Kristufek, D 2007, IDbase_AccNr: A1226 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 1i c.-30-1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - g.100630303C>T g.101375315C>T - - BTK_000587 - PubMed: Conley, M. E 1998, IDbase_AccNr: A0472 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 2_3 c.(?_-30-1)_(240+1_?)del(3000) r.? likely pathogenic p.? DNA deletion (VariO:0141) - - PH - - - - - g.(?_100629524)_(100630302_?)[del(3000)] - - - BTK_000822 deletion of 3 kb of exons 2 and 3 PubMed: Conley 2005, IDbase_AccNr: A1080 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 5 2_3 c.-30_240del r.spl likely pathogenic (recessive) p.? DNA deletion (VariO:0141) - - PH - - - - - g.100629524_100630302del g.101374536_101375314del EX2_EX3del, exon 2-3 deletion, EX2-EX3del - BTK_000451 Deletion of exon 2 to exon 3, mother is carrier PubMed: Yip 2000, IDbase_AccNr: A0631, PubMed: Singh 2016, IDbase_AccNr: A1610, IDbase_AccNr: A0534, 2 more items - - Unknown, Germline - - - - - Gerard C.P. Schaafsma, Qing Wang, Hans D. Ochs, Prof. Dr.
+?/+ 1 2_16 c.-30_1631del r.? - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - g.100609618_100630302del g.101354630_101375314del deletion of exon 2 to 16 - BTK_000782 - PubMed: Chen XF, 2016, IDbase_AccNr: A1760 - - Unknown - - - - - Qing Wang
+?/. 1 2_19 c.-30_*438del r.? - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - g.100604435_100630302del g.101349447_101375314del Ex2-19 del - BTK_000883 Deletion of exon 2 to exon 19 PubMed: Aadam 2016, IDbase_AccNr: A1573 - - Unknown - - - - - Qing Wang
+?/. 1 2 c.-23dup r.(=) - p.(=) DNA insertion (VariO:0142) - - - - - - - - g.100630295dup g.101375307dup - - BTK_000586 - PubMed: Okoh, M. P 2002, IDbase_AccNr: A0795 - - De novo - - - - - Michael Okoh
+?/. 1 2 c.-4_-1del r.(=) - p.(=) DNA deletion (VariO:0141) - - - - - - - - g.100630272_100630276del g.101375284_101375288del 128_133delAAGCT - BTK_000830 - PubMed: Chen XF, 2016, IDbase_AccNr: A1803 - - Unknown - - - - - Qing Wang
+?/. 1 1i c.(-31+?_-30-?)ins(13000) r.? - p.? DNA insertion (VariO:0142) - - - - - - - - g.(100641049_100630303)[ins(13000)] - - - BTK_000768 Insertion (13 kb) within intron 1 PubMed: Conley 1998, IDbase_AccNr: A0473 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 13_19 c.(1103-?)_(*438+?)del r.? - p.? DNA deletion (VariO:0141) - - SH2; TK - - - - - g.(?_100604435)_(100612571_?)del - - - BTK_000774 deletion of exons 13-19 IDbase_AccNr: A1606 - - Germline ? - - - - Qing Wang
+?/. 1 2i c.(141+?)_(142-?)ins(72) r.? - p.? DNA insertion (VariO:0142) - - PH - - - - - g.(100629623_?)_(?_100630131)[ins72] - 72 bp insertion between exons 2 and 3, IFinsL47 + 24 - BTK_000889 1 more item PubMed: Garcia-Garcia 2016, IDbase_AccNr: A1855 - - Germline - - - - - Qing Wang
+?/. 1 - c.(1632-?)_(1908+?)del r.? - p.? DNA deletion (VariO:0141) - - TK - - - - - g.(?_100608182)_(100608976_?)del - - - BTK_000828 large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier PubMed: Haire, R. N (1997); IDbase_AccNr: A0287 - - Unknown - - - - - Dr. Gary W. Litman
+?/. 1 17i c.(1750+?)_(1751-?)ins(518) r.? - p.? DNA insertion (VariO:0142) - - TK - - - - - g.(?_100608339)_(100608858_?)[ins518] - 518 bp insertion between exon 17 and exon 18 - BTK_000829 1 more item PubMed: Lopez-Herrera 2008, IDbase_AccNr: A1484 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 4i c.(309+?)_(310-?)ins(>30000) r.? - p.? DNA insertion (VariO:0142) - - PH - - - - - g.(100625068_?)_(?_100626620)[ins(>30000)] - - - BTK_000900 >30 kb insertion within intron 4 PubMed: Conley 1998, IDbase_AccNr: A0479 - - De novo - - - - - Gerard C.P. Schaafsma
+?/. 1 8i_9i c.(776+?)_(840-?)del r.spl - p.? DNA deletion (VariO:0141) - - SH3 - - - - - g.(?_100615556)_(100614335_?)del - Intron 8~9 deletion - BTK_000871 Deletion of intron 8 to intron 9? PubMed: Singh 2016, IDbase_AccNr: A1611 - - Unknown - - - - - Qing Wang
+?/. 1 19 c.(?_*432)_?del r.(=) - p.(=) DNA deletion (VariO:0141) - - TK - - - - - g.(?_100604441)_?del - - - BTK_000898 deletion including 3" end of BTK gene and including al least part of exon 19 IDbase_AccNr: A0611 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 - c.(?_-57)_1696del r.? - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - g.(?_100641212)_100608911del - 5'UTR-C1828 - BTK_000897 The 5'-terminal half of the cDNA was not amplified, suggesting a large deletion PubMed: Hashimoto et al 1996, IDbase_AccNr: A0324 - - De novo - - - - - Gerard C.P. Schaafsma
+?/. 1 10_19 c.888_(*438_?)del r.? - p.? DNA deletion (VariO:0141) - - SH2; TK absent; ref [2] - - - - g.100614287_(100604435_?)del - - - BTK_000899 - PubMed: Hashimoto et al 1996, PubMed: Futatani et al 1998, IDbase_AccNr: A0323 - - De novo - - - - - Gerard C.P. Schaafsma
+?/. 2 2 c.1A>G r.(1a>g) - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item - PH - - - - atg -> gtg; 1 g.100630272T>C g.101375284T>C - - BTK_000585 - PubMed: Conley, M. E 1994, IDbase_AccNr: A0079, PubMed: Bradley, L.A.D 1994, IDbase_AccNr: A0010 - - De novo, Germline - - - - - Gerard C.P. Schaafsma
+?/+? 1 2 c.2T>A r.(2u>a) likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> aag; 2 g.100630271A>T g.101375283A>T c.134T>A - BTK_000584 mother is carrier PubMed: Qin, X 2013, IDbase_AccNr: A1457 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 7 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 2 more items - PH - - - - atg -> acg; 2 g.100630271A>G g.101375283A>G 134T>C, M1T - BTK_000583 mother is carrier PubMed: Conley, M. E 2005, IDbase_AccNr: A1081, IDbase_AccNr: A0347, 5 more items - - Unknown, Germline, De novo - - EagI+ - - Gerard C.P. Schaafsma, Dr. Tracy Lester, Qing Wang
+?/. 7 2 c.3G>T r.(3g>u) -, likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317), 1 more item - PH - - - - atg -> att; 3 g.100630270C>A g.101375282C>A 135G>T - BTK_000378 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1438, PubMed: Yip, K. L 2000, IDbase_AccNr: A0625, 5 more items - - Germline, Unknown - - - - - Gerard C.P. Schaafsma
+?/. 2 2 c.12dup r.(12dup) - p.(Ile5Aspfs*37) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - g.100630261dup g.101375273dup - - BTK_000377 - PubMed: Kanegane, H 2001, IDbase_AccNr: A1051, PubMed: Kanegane, H 2001, IDbase_AccNr: A1052 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.15_40del r.(15_40del) - p.(Leu6Profs*27) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - g.100630233_100630258del g.101375245_101375270del - - BTK_000339 - IDbase_AccNr: A0448 - - Unknown - - - - - Hans D. Ochs, Prof. Dr.
+?/. 1 2 c.16_28del r.(16_28del) - p.(Leu6Phefs*2) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - g.100630245_100630257del g.101375257_101375269del - - BTK_000376 - IDbase_AccNr: A0190 - - Unknown - - - - - Hans D. Ochs, Prof. Dr.
+?/. 1 2 c.29T>A r.(29u>a) - p.(Phe10Tyr) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ttt -> tat; 2 g.100630244A>T g.101375256A>T - - BTK_000375 - PubMed: Toth, B 2009, IDbase_AccNr: A1370 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.30dup r.(30dup) - p.(Leu11Serfs*31) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH absent - inactive - - g.100630243dup g.101375255dup - - BTK_000374 - PubMed: Holinski-Feder, E 1998, IDbase_AccNr: A0327 - - Germline - - - - - Dr. Michael Weiss
+/. 1 2 c.31C>T r.(?) pathogenic p.(=) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - - PH - - - - - g.100630242G>A - BTK(NM_000061.2):c.31C>T (p.L11=) - BTK_000922 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 5 2 c.32T>C r.(32u>c) likely pathogenic (recessive), - p.(Leu11Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item amino acid substitution (VariO:0021) PH - - - - ctg -> ccg; 2 g.100630241A>G g.101375253A>G 164T>C - BTK_000373 mother is carrier PubMed: Brooimans, R.A 1997, IDbase_AccNr: A0273, PubMed: Brooimans, R.A 1997, IDbase_AccNr: A0272, 3 more items - - Unknown, Germline - - - - - Gerard C.P. Schaafsma, Qing Wang, Dr. Tracy Lester
+?/. 1 2 c.35A>G r.(35a>g) - p.(Lys12Arg) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item amino acid substitution (VariO:0021) PH - - normal - aag -> agg; 2 g.100630238T>C g.101375250T>C A67->G - BTK_000372 - PubMed: Hashimoto, S 1996, IDbase_AccNr: A0294 - - De novo - - - - - Gerard C.P. Schaafsma
+?/., +/., +?/+? 19 2 c.37C>T r.(37c>u), r.(?) -, pathogenic, likely pathogenic (recessive) p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item protein truncation (VariO:0015) PH 0.1%, reduced - - 1 cga -> tga; 1 g.100630236G>A g.101375248G>A 169C>T, BTK(NM_000061.2):c.37C>T (p.R13*), C169>T, c.169C>T, CGA>TGA [169] - BTK_000340 mother is carrier, VKGL data sharing initiative Nederland, mother is carrier; sister is not carrier PubMed: Conley, M. E 1994, OMIM:var0008, IDbase_AccNr: A0080, IDbase_AccNr: A0811, IDbase_AccNr: A0561, 15 more items - - Germline, Unknown, CLASSIFICATION record, De novo - - - - - Gerard C.P. Schaafsma, Dr. M. C. Garcia Rodriguez, Qing Wang, VKGL-NL, Dr. Gary W. Litman, Dr. Mary-Ellen Conley
+?/. 2 2 c.41C>A r.(41c>a) - p.(Ser14Tyr) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - tcc -> tac; 2 g.100630232G>T g.101375244G>T 173C>A - BTK_000338 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1333, PubMed: Lee, P. P 2010, IDbase_AccNr: A1332 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.41C>T r.(41c>u) - p.(Ser14Phe) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item amino acid substitution (VariO:0021) PH - - - - tcc -> ttc; 2 g.100630232G>A g.101375244G>A - - BTK_000337 - IDbase_AccNr: A0175 - - Unknown - - - - - Hans D. Ochs, Prof. Dr.
+?/. 1 2 c.41_43del r.(41_43del) - p.(Ser14*) DNA deletion (VariO:0141) in-frame deletion (VariO:0320) protein truncation (VariO:0015) PH normal - - - - g.100630230_100630232del g.101375242_101375244del del C (173-175) - BTK_000336 mother is carrier PubMed: Futatani, T 2001, IDbase_AccNr: A0748 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 5 2 c.43C>T r.(43c>u) likely pathogenic (recessive) p.(Gln15*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item protein truncation (VariO:0015) PH - - - - caa -> taa; 1 g.100630230G>A g.101375242G>A - - BTK_000335 mother is carrier PubMed: Conley, M. E 1994, IDbase_AccNr: A0082, PubMed: Conley, M. E 2005, IDbase_AccNr: A1083, 3 more items - - Germline, Unknown, De novo - - - - - Gerard C.P. Schaafsma, Dr. Tracy Lester, Dr. Mary-Ellen Conley
+?/. 1 2 c.45del r.(45del) - p.(Gln15Hisfs*9) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023) PH - - - - - g.100630228del g.101375240del 177delA - BTK_000334 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1353 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.49A>G r.(49a>g) - p.(Lys17Glu) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item amino acid substitution (VariO:0021) PH - - - - aaa -> gaa; 1 g.100630224T>C g.101375236T>C c.181A>G - BTK_000332 mother is carrier PubMed: Fiorini, M 2004, IDbase_AccNr: A0937 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 2 2 c.55A>G r.(55a>g) - p.(Lys19Glu) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item amino acid substitution (VariO:0021) PH normal - normal - aaa -> gaa; 1 g.100630218T>C g.101375230T>C - - BTK_000287 - PubMed: Holinski-Feder, E 1998, IDbase_AccNr: A0329, 1 more item - - Germline - - - - - Dr. Michael Weiss
+?/. 2 2 c.55A>T r.(55a>u) likely pathogenic (recessive), - p.(Lys19*) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - reduced - - aaa -> taa; 1 g.100630218T>A g.101375230T>A AAA/TAA 187, AAA>TAA [187] - BTK_000269 - PubMed: Moschese, V 2000, IDbase_AccNr: A0692, 1 more item - - Unknown - - - - - Gerard C.P. Schaafsma
+?/., +?/+? 2 2 c.62C>A r.(62c>a) likely pathogenic (recessive) p.(Ser21*) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - tca -> taa; 2 g.100630211G>T g.101375223G>T c.194C>A - BTK_000268 mother is carrier PubMed: Conley, M. E 1998, IDbase_AccNr: A0474, PubMed: Zhang, Z. Y 2010, IDbase_AccNr: A1483 - - De novo, Germline - - - - - Gerard C.P. Schaafsma
+?/. 2 2 c.63del r.(63del) - p.(Pro22Leufs*2) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - g.100630210del g.101375222del - - BTK_000267 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1084, IDbase_AccNr: A0563 - - Unknown, De novo - - - - - Gerard C.P. Schaafsma, Dr. Mary-Ellen Conley
+?/. 1 2 c.64C>G r.(64c>g) - p.(Pro22Ala) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - cct -> gct; 1 g.100630209G>C g.101375221G>C - - BTK_000266 - PubMed: Yang, Y. D 2014, IDbase_AccNr: A1523 - - Unknown - - - - - Gerard C.P. Schaafsma
?/. 1 2 c.72C>G r.(?) VUS p.(Asn24Lys) DNA substitution (VariO:0136);transversion (VariO:0316) - amino acid substitution (VariO:0021) PH - - - - - g.100630201G>C - BTK(NM_000061.2):c.72C>G (p.N24K) - BTK_000921 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 2 2 c.74T>C r.(?), r.(74u>c) pathogenic p.(Phe25Ser) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item amino acid substitution (VariO:0021) PH - - - - ttc -> tcc; 2 g.100630199A>G g.101375211A>G BTK(NM_000061.2):c.74T>C (p.F25S) - BTK_000264 VKGL data sharing initiative Nederland PubMed: Vorechovsky, I 1995, IDbase_AccNr: A0109 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL, Gerard C.P. Schaafsma
+?/. 1 2 c.80A>G r.(80a>g) - p.(Lys27Arg) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item amino acid substitution (VariO:0021) PH - - - - - g.100630193T>C g.101375205T>C - - BTK_000767 - IDbase_AccNr: A0510 - - Unknown - - - - - Paul Coucke
+?/. 3 2 c.82C>A r.(82c>a) - p.(Arg28Ser) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - cgc -> agc; 1 g.100630191G>T g.101375203G>T 214C>A - BTK_000263 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1684, PubMed: Lee, P. P 2010, IDbase_AccNr: A1334, 1 more item - - Germline, Unknown - - - - - Qing Wang, Gerard C.P. Schaafsma
+?/., +?/+? 19 2 c.82C>T r.(82c>u), r.(82c>a) likely pathogenic (recessive), - p.(Arg28Cys) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308), 1 more item amino acid substitution (VariO:0021) PH reduced, normal - - 1 cgc -> tgc; 1 g.100630191G>A g.101375203G>A c.214C>T, 214C>T, 213C>T, C214T - BTK_000262 mother is carrier PubMed: Aadam 2016, IDbase_AccNr: A1570, PubMed: Qin, X 2013, IDbase_AccNr: A1458, IDbase_AccNr: A0840, 16 more items - - Unknown, Germline, De novo - - HhaI- - - Qing Wang, Gerard C.P. Schaafsma, Dr. M. C. Garcia Rodriguez, Asghar Aghamohammadi, Dr. Tracy Lester
+?/. 1 2 c.82delC r.(82del) - p.(Arg28Alafs*5) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023) PH - - - - - g.100630191delG g.101375203delG - - BTK_000903 mother is carrier; maternal grandmother is carrier; cousin is carrier PubMed: Lee J, et al. 2016, IDbase_AccNr: A1811 - - Germline - - - - - Qing Wang
+?/., +?/+?, +/. 26 2 c.83G>A r.(83g>a), r.(?) -, likely pathogenic (recessive), pathogenic p.(Arg28His) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item amino acid substitution (VariO:0021) PH normal - normal 2 cgc -> cac; 2 g.100630190C>T g.101375202C>T 215G>A, c.215G>A, G215A, CGC/CAC 215, BTK(NM_000061.2):c.83G>A (p.R28H), CGC>CAC [215] - BTK_000144 mother is carrier, VKGL data sharing initiative Nederland, Two sisters are carrier PubMed: Vihinen, M 1995, IDbase_AccNr: A0457, PubMed: Ohta, Y 1994, OMIM:var0005, IDbase_AccNr: A0032, 23 more items - - Unknown, Germline, CLASSIFICATION record, De novo - - HhaI- - - Hans D. Ochs, Prof. Dr., Gerard C.P. Schaafsma, Qing Wang, Dr. Michael Weiss, C. I. Edvard Smith, Dr. Tracy Lester, VKGL-NL, Hirokazu Kanegane, Eduardo López Granados
+?/. 1 2 c.83G>C r.(83g>c) - p.(Arg28Pro) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH much reduced; ref[2] - normal; ref [3] - cgc -> ccc; 2 g.100630190C>G g.101375202C>G G215->C - BTK_000286 - PubMed: Hashimoto, S 1996, PubMed: Futatani, T 1998, IDbase_AccNr: A0295 - - De novo - - - - - Gerard C.P. Schaafsma
+?/+?, +?/. 2 2 c.83G>T r.(83g>u) likely pathogenic (recessive), - p.(Arg28Leu) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH 26.3% - - - cgc -> ctc; 2 g.100630190C>A g.101375202C>A 215G>T - BTK_000285 mother is carrier PubMed: Tani, S. M 2002, IDbase_AccNr: A0847, PubMed: Chen XF, 2016, IDbase_AccNr: A1794 - - Unknown, Germline - - - - - Gerard C.P. Schaafsma, Qing Wang
+?/. 1 2 c.84C>T r.(84c>u) - p.(=) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item - PH - - - 1 cgc -> tgc; 1 g.100630189G>A g.101375201G>A - - BTK_000143 mother is carrier PubMed: Conley, M. E 1998, IDbase_AccNr: A0475 - - Germline - - HhaI- - - Gerard C.P. Schaafsma
+?/. 1 2 c.89_101del r.(89_101del) - p.(Phe30Cysfs*23) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - g.100630172_100630184del g.101375184_101375196del - - BTK_000067 - PubMed: Toth, B 2009, IDbase_AccNr: A1371 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.92T>C r.(92u>c) - p.(Leu31Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item amino acid substitution (VariO:0021) PH - - - - ctc -> ccc; 2 g.100630181A>G g.101375193A>G - - BTK_000142 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1086 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 5 2 c.95T>C r.(95u>c) - p.(Leu32Ser), p.Leu32Ser DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item amino acid substitution (VariO:0021) PH - - - - ttg -> tcg; 2 g.100630178A>G g.101375190A>G 227T>C, 227C>T - BTK_000070 mother is carrier PubMed: Kanegane, H 2001, IDbase_AccNr: A0987, PubMed: Lee, P. P 2010, IDbase_AccNr: A1446, 3 more items - - Germline, De novo, Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.95T>G r.(95u>g) - p.(Leu32Trp) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ttg -> tgg; 2 g.100630178A>C g.101375190A>C c.227T>G - BTK_000141 mother is carrier PubMed: Fiorini, M 2004, IDbase_AccNr: A0938 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 3 2 c.97A>C r.(97a>c) - p.(Thr33Pro) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH absent - - - acc -> ccc; 1 g.100630176T>G g.101375188T>G - A229>C BTK_000069 - PubMed: Genevier, H.C 1994, PubMed: Gaspar, H. B 1995, IDbase_AccNr: A0043, 2 more items - - Unknown - - - - - Gerard C.P. Schaafsma
+?/+?, +?/. 2 2 c.98C>T r.(98c>u) likely pathogenic (recessive) p.(Thr33Ile) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item amino acid substitution (VariO:0021) PH - - - - acc -> atc; 2 g.100630175G>A g.101375187G>A 230C>T - BTK_000068 - PubMed: Mitsui, T 2006, IDbase_AccNr: A1252, IDbase_AccNr: A0841 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.99_103del r.(99_103del) - p.(Val34Glnfs*6) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - g.100630170_100630174del g.101375182_101375186del T33delX39* - BTK_000779 - [J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1541 - - Germline ? - - - - Qing Wang
+?/. 3 2 c.110T>C r.(110u>c) - p.(Leu37Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) 1 more item amino acid substitution (VariO:0021) PH - - - - ctc -> ccc; 2 g.100630163A>G g.101375175A>G 242T>C - BTK_000066 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1735, PubMed: Abolhassani 2016, IDbase_AccNr: A1628, 1 more item - - Germline, Unknown - - - - - Qing Wang, Gerard C.P. Schaafsma
+?/. 1 2 c.112_113del r.(112_113del) - p.(Ser38Leufs*3) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - g.100630160_100630161del g.101375172_101375173del - - BTK_000064 - PubMed: Noordzij, J. G 2002, PubMed: Noordzij, J. G 2002, IDbase_AccNr: A0421 - - De novo - - - - - J.G. Noordzij
+?/. 2 2 c.115T>A r.(115u>a) - p.(Tyr39Asn) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - tac -> aac; 1 g.100630158A>T g.101375170A>T - - BTK_000062 - PubMed: Toth, B 2009, IDbase_AccNr: A1373, PubMed: Toth, B 2009, IDbase_AccNr: A1372 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.116A>C r.(116a>c) likely pathogenic (recessive) p.(Tyr39Ser) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - tac -> tcc; 2 g.100630157T>G g.101375169T>G 248A>C - BTK_000061 - PubMed: Orlandi, P 2000, IDbase_AccNr: A0614 - - De novo - - - - - Gerard C.P. Schaafsma
?/., +?/. 3 2 c.116A>G r.(?), r.(116a>g) VUS p.(Tyr39Cys) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item amino acid substitution (VariO:0021) PH - - - - tac -> tgc; 2 g.100630157T>C g.101375169T>C BTK(NM_000061.2):c.116A>G (p.Y39C) - BTK_000060 VKGL data sharing initiative Nederland PubMed: Kanegane, H 2001, IDbase_AccNr: A0989, PubMed: Wang, Y 2001, IDbase_AccNr: A0759 - - CLASSIFICATION record, De novo - - - - - VKGL-NL, Gerard C.P. Schaafsma, Hirokazu Kanegane
+?/. 2 2 c.117C>A r.(117c>a) - p.(Tyr39*) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - tac -> taa; 3 g.100630156G>T g.101375168G>T c.249C>A - BTK_000059 mother is carrier PubMed: Fiorini, M 2004, IDbase_AccNr: A0939, PubMed: Fiorini, M 2004, IDbase_AccNr: A0940 - - Germline, Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.117_119del r.(117_119del) - p.(Tyr40del) DNA deletion (VariO:0141) in-frame deletion (VariO:0320) sequence retaining amino acid deletion (VariO:0016) PH - - - - - g.100630154_100630156del - - - BTK_000939 mother is carrier PubMed: Segundo 2018, IDbase_AccNr: A1817 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.118T>A r.(118u>a) likely pathogenic (recessive) p.(Tyr40Asn) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - tat -> aat; 1 g.100630155A>T g.101375167A>T T250A - BTK_000058 mother is carrier; sister is carrier PubMed: Saha, B. K 1997, IDbase_AccNr: A0393 - - Germline - - - - - Dr. Bratin K. Saha
+?/., +?/+? 5 2 c.119A>G r.(119a>g) likely pathogenic (recessive), - p.(Tyr40Cys) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) 1 more item amino acid substitution (VariO:0021) PH 9.0% - - - tat -> tgt; 2 g.100630154T>C g.101375166T>C 251A>G - BTK_000057 mother is carrier PubMed: Conley, M. E 1998, IDbase_AccNr: A0476, PubMed: Tani, S. M 2002, IDbase_AccNr: A0846, 3 more items - - Germline, Unknown - - - - - Gerard C.P. Schaafsma, Qing Wang, Dr. Bratin K. Saha
+?/. 2 2 c.119_120del r.(119_120del) - p.(Tyr40*) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015) PH - - - - tat -> tga; 1 g.100630153_100630154del g.101375165_101375166del 250-251delTA - BTK_000140 mother is not carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1685, PubMed: Lee, P. P 2010, IDbase_AccNr: A1354 - - De novo - - - - - Qing Wang, Gerard C.P. Schaafsma
+?/. 2 2 c.119_141del r.(119_141del) - p.(Tyr40*) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015) PH absent; ref [2] - inactive; ref [2] - tat -> tag; 2 g.100630132_100630154del g.101375144_101375166del - - BTK_000135 - PubMed: Hashimoto, S 1996, PubMed: Futatani, T 1998, IDbase_AccNr: A0296, 1 more item - - De novo - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.123_141del r.(123_141del) - p.(Tyr42Glufs*9) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023) PH - - - - - g.100630132_100630150del g.101375144_101375162del c.delG287–G305, FSdelY42*50 - BTK_000843 1 more item PubMed: Garcia-Garcia 2016, IDbase_AccNr: A1552 - - Germline - - - - - Qing Wang
+?/. 1 2 c.124T>G r.(124u>g) - p.(Tyr42Asp) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - - g.100630149A>C g.101375161A>C - - BTK_000934 mother is carrier PubMed: Segundo 2018, IDbase_AccNr: A1812 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 2 2 c.126del r.(126del) - p.(Tyr42*) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015) PH - - - - tat -> tag; 3 g.100630147del g.101375159del 258delT, 28delT - BTK_000138 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1686, PubMed: Lee, P. P 2010, IDbase_AccNr: A1355 - - Germline - - - - - Qing Wang, Gerard C.P. Schaafsma
+?/. 1 2 c.126T>A r.(126u>a) - p.(Tyr42*) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - - g.100630147A>T g.101375159A>T - - BTK_000844 - PubMed: Singh 2016, IDbase_AccNr: A1675 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.126T>C r.(126u>c) - p.(=) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314) - PH - - - - - g.100630147A>G g.101375159A>G 258T>C, Y42X - BTK_000783 - PubMed: Chen XF, 2016, IDbase_AccNr: A1783 - - Unknown - - - - - Qing Wang
+?/. 1 2 c.126T>G r.(126u>g) - p.(Tyr42*) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - tat -> tag; 3 g.100630147A>C g.101375159A>C - - BTK_000139 - PubMed: Kong, X 2014, IDbase_AccNr: A1525 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2 c.126_127insA r.(126_127insa) - p.(Asp43Argfs*3) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023) PH normal - - - - g.100630146_100630147insT g.101375158_101375159insT ins A (258-259) - BTK_000137 mother is carrier PubMed: Futatani, T 2001, IDbase_AccNr: A0749 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 2 2 c.137_139delinsTT r.(137_139delinsuu), r.(137_139delinsuu - p.(Arg46Leufs*11) DNA indel (VariO:0143) out-of-frame indel (VariO:0031) protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023) PH - - - - - g.100630134_100630136delinsAA g.101375146_101375148delinsAA 269-271delGTGinsTT, 269-271delGTGinsTT; R46fsX56 - BTK_000784, BTK_000136 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1687, PubMed: Lee, P. P 2010, IDbase_AccNr: A1368 - - Germline - - - - - Qing Wang, Gerard C.P. Schaafsma
+?/. 2 2i c.141+1del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100630131del g.101375143del - - BTK_000132 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1087, IDbase_AccNr: A0564 - - Unknown, De novo - - - - - Gerard C.P. Schaafsma, Dr. Mary-Ellen Conley
+?/. 4 2i c.141+1G>A r.spl likely pathogenic (recessive), - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100630131C>T g.101375143C>T g.IVS2+1G>A, GGG(g>a)taag - BTK_000133 mother is carrier PubMed: Danielian, S 2003, IDbase_AccNr: A0866, IDbase_AccNr: A0188, 2 more items - - Germline - - - - - Gerard C.P. Schaafsma, Patrizia Melia
+?/. 1 2i c.141+1G>C r.spl - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - PH - - - - - g.100630131C>G g.101375143C>G - - BTK_000134 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1088 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2i c.141+2T>A r.spl - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - PH - - - - - g.100630130A>T g.101375142A>T - - BTK_000130 - IDbase_AccNr: A0535 - - Unknown - - - - - Hans D. Ochs, Prof. Dr.
+?/. 1 2i c.141+2T>G r.spl - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - PH - - - - - g.100630130A>C g.101375142A>C IVS2+2T>G - BTK_000131 - PubMed: Fiorini, M 2004, IDbase_AccNr: A0941 - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 2i c.141+3_141+4del r.(spl?) - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100630128_100630129del g.101375140_101375141del - - BTK_000331 - PubMed: Hagemann, T. L 1994, OMIM:var0012, IDbase_AccNr: A0077 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 2i c.141+3_141+6del r.(spl?) - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100630126_100630129del g.101375138_101375141del IVS2+3_+6delAAGT - BTK_000785 - PubMed: Chen XF, 2016, IDbase_AccNr: A1786 - - Unknown - - - - - Qing Wang
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