All variants in the CRLF1 gene

Information The variants shown are described using the NM_004750.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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_1i c.(?_-1)_(115+1_116-1)del r.0? p.0? - - pathogenic g.18717352_18717466del - - - CRLF1_000013 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Thomas 2008 - - Unknown ? - - - - Insa Buers
+/. _1_1i c.(?_-1)_(115+1_116-1)del r.0? p.0? - - pathogenic g.18717352_18717466del - - - CRLF1_000013 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Thomas 2008 - - Unknown ? - - - - Insa Buers
?/. - c.? r.(?) p.(Lys285Glu) - - VUS g.? - - - NPHS1_000138 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
+?/+? 1 c.23-45dup r.? p.[Leu19Asnfs*32] - - pathogenic g.18717489dup - - - CRLF1_000049 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Buers 2020 - - Germline - - - - - Insa Buers
+/. 1 c.31_53del r.(?) p.(Gln11Valfs*68) signal peptide - pathogenic g.18717422_18717444del g.18606612_18606634del - - CRLF1_000017 - PubMed: Yamazakhi 2010 - rs137853929 Germline ? - - - - Insa Buers
+/. 1 c.31_53del r.(?) p.(Gln11Valfs*68) signal peptide - pathogenic g.18717422_18717444del g.18606612_18606634del - - CRLF1_000017 - PubMed: Hahn 2010 - rs137853929 Germline ? - - - - Insa Buers
+/. 1 c.31_53del r.(?) p.(Gln11Valfs*68) signal peptide - pathogenic g.18717422_18717444del g.18606612_18606634del - - CRLF1_000017 - PubMed: Piras 2014 - rs137853929 Unknown ? - - - - Insa Buers
+/. 1 c.31_53del r.(?) p.(Gln11Valfs*68) signal peptide - pathogenic g.18717422_18717444del g.18606612_18606634del - - CRLF1_000017 - PubMed: Yamazakhi 2010 - rs137853929 Germline ? - - - - Insa Buers
+/. 1 c.31_53del r.(?) p.(Gln11Valfs*68) signal peptide - pathogenic g.18717422_18717444del g.18606612_18606634del - - CRLF1_000017 - PubMed: Piras 2014 - rs137853929 Unknown ? - - - - Insa Buers
-/. 1 c.75_77del r.(?) p.(Leu26del) - - benign g.18717401_18717403del g.18606591_18606593del - - CRLF1_000037 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
+/. 1i c.115+1G>A r.spl p.? - - pathogenic g.18717351C>T g.18606541C>T - - CRLF1_000021 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+?/+? 2 c.120del r.(?) p.(Ala41Leufs*2) - - pathogenic (recessive) g.18710652del g.18599842del 120delA - CRLF1_000050 - PubMed: Buers 2020 - - Germline - - - - - Insa Buers
+/. 2 c.221T>C r.(?) p.(Leu74Pro) Ig-like - pathogenic g.18710551A>G g.18599741A>G - - CRLF1_000022 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 2 c.223T>G r.(?) p.(Tyr75Asp) Ig-like - pathogenic g.18710549A>C g.18599739A>C - - CRLF1_000006 - PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+?/+? 2 c.226T>C r.(?) p.(Trp76Arg) - - pathogenic g.18710546A>G g.18599736A>G - - CRLF1_000051 - {Buers 2020: 31497877} - - Germline - - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Dagoneau 2007, PubMed: Crisponi 2007, OMIM:var0004 - rs137853143 Germline ? - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Crisponi 2007 - rs137853143 Germline ? - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Crisponi 2007 - rs137853143 Germline ? - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Piras 2014 - rs137853143 Unknown ? - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Piras 2014 - rs137853143 Unknown ? - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Crisponi 2007 - rs137853143 Germline ? - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Piras 2014 - rs137853143 Unknown ? - - - - Insa Buers
+/. 2 c.226T>G r.(?) p.(Trp76Gly) Ig-like - pathogenic g.18710546A>C g.18599736A>C - - CRLF1_000001 - PubMed: Piras 2014 - rs137853143 Unknown ? - - - - Insa Buers
-/. 2 c.237C>T r.(?) p.(=) - - benign g.18710535G>A g.18599725G>A Asn79= - CRLF1_000038 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
-/. - c.237C>T r.(?) p.(Asn79=) - - benign g.18710535G>A - - - CRLF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 c.242G>A r.(?) p.(Arg81His) Ig-like - likely pathogenic g.18710530C>T g.18599720C>T - - CRLF1_000001 - PubMed: Knappskog 2003, PubMed: Hahn 2010, Sohar 1978, OMIM:var0002 - rs104894670 Germline ? - - - - Insa Buers
+?/. 2 c.242G>A r.(?) p.(Arg81His) Ig-like - likely pathogenic g.18710530C>T g.18599720C>T - - CRLF1_000001 - PubMed: Knappskog 2003, PubMed: Hahn 2010, Sohar 1978, OMIM:var0002 - rs104894670 Germline ? - - - - Insa Buers
+?/. 2 c.242G>A r.(?) p.(Arg81His) Ig-like - likely pathogenic g.18710530C>T g.18599720C>T - - CRLF1_000001 - PubMed: Knappskog 2003, PubMed: Hahn 2010, Sohar 1978, OMIM:var0002 - rs104894670 Germline ? - - - - Insa Buers
+?/. 2 c.242G>A r.(?) p.(Arg81His) Ig-like - likely pathogenic g.18710530C>T g.18599720C>T - - CRLF1_000001 - PubMed: Knappskog 2003, PubMed: Hahn 2010, Sohar 1978, OMIM:var0002 - rs104894670 Germline ? - - - - Insa Buers
-/. 2 c.266G>A r.(?) p.(Arg89His) - - benign g.18710506C>T g.18599696C>T - - CRLF1_000040 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
+/. 2 c.303del r.(?) p.(Asn102Thrfs*47) Ig-like - pathogenic g.18710470del g.18599660del - - CRLF1_000018 - PubMed: Hahn 2010 - rs137853931 Germline ? - - - - Insa Buers
+/. 2 c.338A>T r.(?) p.(Asn113Ile) - - pathogenic g.18710434T>A g.18599624T>A - - CRLF1_000008 together with 341T>C pathogenic PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 2 c.338A>T r.(?) p.(Asn113Ile) - - pathogenic g.18710434T>A g.18599624T>A - - CRLF1_000008 together with 341T>C pathogenic PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+?/. 2 c.341T>C r.(?) p.(Leu114Pro) - - likely pathogenic g.18710431A>G g.18599621A>G - - CRLF1_000010 together with 338A>T pathogenic PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+?/. 2 c.341T>C r.(?) p.(Leu114Pro) - - likely pathogenic g.18710431A>G g.18599621A>G - - CRLF1_000010 together with 338A>T pathogenic PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 2i c.397+1G>A r.spl p.? - - pathogenic g.18710374C>T g.18599564C>T - - CRLF1_000023 - PubMed: Hahn and Boman 2011 - rs137853932 Unknown ? - - - - Insa Buers
+/. - c.397+1G>A r.spl? p.? - ACMG pathogenic g.18710374C>T g.18599564C>T - - CRLF1_000023 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/. 2i_4i c.398-456_697+747del r.(del) p.? - - pathogenic g.18708495_18710167del g.18597685_18599357del - - CRLF1_000024 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 2i_4i c.398-456_697+747del r.(del) p.? - - pathogenic g.18708495_18710167del g.18597685_18599357del - - CRLF1_000024 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
-/. 2i c.398-57C>T r.(?=) p.(=) - - benign g.18709768G>A g.18598958G>A - - CRLF1_000041 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
-/. 2i c.398-50C>T r.(?=) p.(=) - - benign g.18709761G>A g.18598951G>A - - CRLF1_000044 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
+/. 3 c.413C>T r.(?) p.(Pro138Leu) FNIII 1 - pathogenic g.18709696G>A g.18598886G>A - - CRLF1_000019 - PubMed: Tüysüz 2012 - rs137853930 Germline ? - - - - Insa Buers
+/. 3 c.413C>T r.(?) p.(Pro138Leu) FNIII 1 - pathogenic g.18709696G>A g.18598886G>A - - CRLF1_000019 - PubMed: Tüysüz 2012 - rs137853930 Germline ? - - - - Insa Buers
+/. 3 c.413C>T r.(?) p.(Pro138Leu) FNIII 1 - pathogenic g.18709696G>A g.18598886G>A - - CRLF1_000019 - PubMed: Tüysüz 2012 - rs137853930 Germline ? - - - - Insa Buers
+/. 3 c.413C>T r.(?) p.(Pro138Leu) FNIII 1 - pathogenic g.18709696G>A g.18598886G>A - - CRLF1_000019 - PubMed: Tüysüz 2012 - rs137853930 Germline ? - - - - Insa Buers
+/. 3 c.433T>C r.(?) p.(Ser145Pro) FNIII 1 - pathogenic g.18709676A>G g.18598866A>G - - CRLF1_000025 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 3 c.433T>C r.(?) p.(Ser145Pro) FNIII 1 - pathogenic g.18709676A>G g.18598866A>G - - CRLF1_000025 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
-?/. - c.467C>T r.(?) p.(Thr156Met) - - likely benign g.18709642G>A - CRLF1(NM_004750.4):c.467C>T (p.(Thr156Met)) - CRLF1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 c.475del r.(?) p.(Ala159Profs*75) FNIII 1 - pathogenic g.18709637del g.18598827del - - CRLF1_000026 - PubMed: Hakan 2012 - - Unknown ? - - - - Insa Buers
+/. 3 c.475del r.(?) p.(Ala159Profs*75) FNIII 1 - pathogenic g.18709637del g.18598827del - - CRLF1_000026 - PubMed: Hakan 2012 - - Unknown ? - - - - Insa Buers
+/. 3i c.527+5G>A r.(spl?) p.? - - pathogenic g.18709577C>T g.18598767C>T - - CRLF1_000016 - PubMed: Dagoneau 2007, OMIM:var0005 - - Germline ? - - - - Insa Buers
+/. 3i c.527+5G>A r.(spl?) p.? - - pathogenic g.18709577C>T g.18598767C>T - - CRLF1_000016 - PubMed: Dagoneau 2007, OMIM:var0005 - - Germline ? - - - - Insa Buers
+/. 3i c.527+5G>T r.(spl?) p.? - - pathogenic g.18709577C>A g.18598767C>A - - CRLF1_000027 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 4 c.538C>T r.(?) p.(Gln180*) - - pathogenic g.18709401G>A g.18598591G>A - - CRLF1_000011 - PubMed: Hahn 2006, PubMed: Hahn 2010 - rs137853926 Germline ? - - - - Insa Buers
+/. 4 c.539dup r.(?) p.(Asp181Glyfs*5) - - pathogenic g.18709400dup g.18598590dup - - CRLF1_000005 - PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 4 c.539dup r.(?) p.(Asp181Glyfs*5) - - pathogenic g.18709400dup g.18598590dup - - CRLF1_000005 - PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 4 c.539dup r.(?) p.(Asp181Glyfs*5) - - pathogenic g.18709400dup g.18598590dup - - CRLF1_000005 - PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 4 c.539dup r.(?) p.(Asp181Glyfs*5) - - pathogenic g.18709400dup g.18598590dup - - CRLF1_000005 - PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 4 c.539dup r.(?) p.(Asp181Glyfs*5) - - pathogenic g.18709400dup g.18598590dup - - CRLF1_000005 - PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 4 c.539dup r.(?) p.(Asp181Glyfs*5) - - pathogenic g.18709400dup g.18598590dup - - CRLF1_000005 - PubMed: Herholz 2011 - - Germline ? - - - - Insa Buers
+/. 4 c.646C>T r.(?) p.(Arg216Cys) FNIII 1 - pathogenic g.18709293G>A g.18598483G>A - - CRLF1_000028 unknown variant found on 2nd chromosome PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) - - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - - - - Germline ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Dagoneau 2007, PubMed: Crisponi 2007, OMIM:var0003 - - Germline ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) - - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - - - - Germline ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 4 c.676dup r.(?) p.(Thr226Asnfs*104) FNIII 1 - pathogenic g.18709263dup g.18598453dup - - CRLF1_000002 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
-/. 4i c.697+67G>A r.(?=) p.(=) - - benign g.18709175C>T g.18598365C>T - - CRLF1_000042 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
-/. 4i c.698-19T>G r.(?=) p.(=) - - benign g.18707878A>C g.18597068A>C - - CRLF1_000039 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
-/. 4i c.698-19T>G r.(?=) p.(=) - - benign g.18707878A>C g.18597068A>C - - CRLF1_000043 - PubMed: Piras 2014 - - Germline - - - - - Johan den Dunnen
-/. - c.698-19T>G r.(=) p.(=) - - benign g.18707878A>C g.18597068A>C CRLF1(NM_004750.5):c.698-19T>G - CRLF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.698-19T>G r.(=) p.(=) - - benign g.18707878A>C g.18597068A>C CRLF1(NM_004750.5):c.698-19T>G - CRLF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4i_9_ c.(697+1_698-1)_(*1_?)del r.(del) p.? - - pathogenic g.18704376_18707859del - - - CRLF1_000029 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Uzunalic 2013 - - Unknown ? - - - - Insa Buers
+/. 4i_9_ c.(697+1_698-1)_(*1_?)del r.(del) p.? - - pathogenic g.18704376_18707859del - - - CRLF1_000029 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Uzunalic 2013 - - Unknown ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) - - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) - - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) - - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Cosar 2011 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) - - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) - - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) - - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Crisponi 2007 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Cosar 2011 - - Germline ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.708_709delinsT r.(?) p.(Pro238Argfs*6) FNIII 2 - pathogenic g.18707848_18707849delinsA g.18597038_18597039delinsA 708_709delCCinsT - CRLF1_000003 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.713dup r.(?) p.(Pro239Alafs*91) FNIII 2 - pathogenic g.18707849dup g.18597039dup - - CRLF1_000007 - PubMed: Dagoneau 2007, OMIM:var0006 - - Germline ? - - - - Insa Buers
+/. 5 c.713dup r.(?) p.(Pro239Alafs*91) FNIII 2 - pathogenic g.18707849dup g.18597039dup - - CRLF1_000007 - PubMed: Dagoneau 2007, OMIM:var0006 - - Germline ? - - - - Insa Buers
+/. 5 c.713dup r.(?) p.(Pro239Alafs*91) FNIII 2 - pathogenic g.18707849dup g.18597039dup - - CRLF1_000007 unknown variant found on 2nd chromosome PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.713dup r.(?) p.(Pro239Alafs*91) FNIII 2 - pathogenic g.18707849dup g.18597039dup - - CRLF1_000007 - PubMed: Gonzalez Fernandez 2013 - - Unknown ? - - - - Insa Buers
+/. 5 c.713dup r.(?) p.(Pro239Alafs*91) FNIII 2 - pathogenic g.18707849dup g.18597039dup - - CRLF1_000007 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.713dup r.(?) p.(Pro239Alafs*91) FNIII 2 - pathogenic g.18707849dup g.18597039dup - - CRLF1_000007 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
+/. 5 c.713dup r.(?) p.(Pro239Alafs*91) FNIII 2 - pathogenic g.18707849dup g.18597039dup - - CRLF1_000007 - PubMed: Piras 2014 - - Unknown ? - - - - Insa Buers
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