Full data view for gene FANCL

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_018062.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-3612733_*30786492dup r.0? p.0? - Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(?) p.0? - Unknown - pathogenic g.58468447A>G g.58241312A>G p.Met1? - FANCL_000017 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.2T>C r.(?) p.0? - Unknown - pathogenic g.58468447A>G g.58241312A>G p.Met1? - FANCL_000017 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.2T>C r.? p.? - Both (homozygous) ACMG pathogenic (recessive) g.58468447A>G g.58241312A>G NM_001114636.1:c.2T>C (Met1?) - FANCL_000017 ACMG PVS1, PM2, PP5 PubMed: Marinakis 2021 - rs761291501 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 20072 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
-?/. - c.112C>T r.(?) p.(Leu38Phe) - Unknown - likely benign g.58459232G>A g.58232097G>A FANCL(NM_001114636.1):c.112C>T (p.L38F), FANCL(NM_018062.4):c.112C>T (p.(Leu38Phe)) - FANCL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112C>T r.(?) p.(Leu38Phe) - Unknown - likely benign g.58459232G>A g.58232097G>A FANCL(NM_001114636.1):c.112C>T (p.L38F), FANCL(NM_018062.4):c.112C>T (p.(Leu38Phe)) - FANCL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.268del r.(?) p.(Leu90Phefs*6) - Both (homozygous) - pathogenic g.58453868del g.58226733del - - FANCL_000007 - PubMed: Vetro 2015, Journal: Vetro 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood - VATER - PubMed: Vetro 2015, Journal: Vetro 2015 - M yes Morocco - 00y02m - yes - 1 Annalisa Vetro
+?/. - c.273+1G>C r.spl? p.? - Unknown - likely pathogenic g.58453862C>G - FANCL(NM_001114636.1):c.273+1G>C - FANCL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+18_273+19del r.(=) p.(=) - Unknown - likely benign g.58453854_58453855del g.58226719_58226720del FANCL(NM_001114636.1):c.273+18_273+19delTT - FANCL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+18_273+19dup r.(=) p.(=) - Unknown - likely benign g.58453854_58453855dup - FANCL(NM_001114636.1):c.273+18_273+19dupTT - FANCL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273+19del r.(=) p.(=) - Unknown - benign g.58453855del g.58226720del FANCL(NM_001114636.1):c.273+19delT - FANCL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273+19dup r.(=) p.(=) - Unknown - benign g.58453855dup - FANCL(NM_018062.3):c.273+19dupT - FANCL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.274-3C>T r.spl? p.? - Unknown - likely benign g.58449180G>A g.58222045G>A FANCL(NM_001114636.1):c.274-3C>T - FANCL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288G>T r.(?) p.(Lys96Asn) - Unknown - likely benign g.58449163C>A g.58222028C>A FANCL(NM_001114636.1):c.288G>T (p.(Lys96Asn)) - FANCL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.317C>T r.(?) p.(Pro106Leu) - Unknown - likely benign g.58449134G>A g.58221999G>A FANCL(NM_001114636.1):c.317C>T (p.P106L) - FANCL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.375-2033C>G r.[374_375ins375-2066_375-2034, 374_375ins375-2360_375-2301ins375-2066_375-2034, 217_273del374_375ins375-2066_375-2034, ..] p.(=) FA Maternal (confirmed) - pathogenic g.58433394G>C g.58206259G>C - - FANCL_000004 affects splicing, series of products detected PubMed: Chandrasekharappa 2013 - - Germline ? - - - - DNA, RNA RT-PCR, SEQ - - FANCL - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 5i c.375-2033C>G r.[374_375ins375-2066_375-2034, 374_375ins375-2360_375-2301ins375-2066_375-2034, 217_273del374_375ins375-2066_375-2034, ..] p.(=) FA Maternal (confirmed) - pathogenic g.58433394G>C g.58206259G>C - - FANCL_000004 affects splicing, series of products detected PubMed: Chandrasekharappa 2013 - - Germline ? - - - - DNA, RNA RT-PCR, SEQ - - FANCL - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
-/. - c.402T>C r.(?) p.(Ser134=) - Unknown - benign g.58431334A>G - FANCL(NM_001114636.1):c.402T>C (p.S134=) - FANCL_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430del r.(?) p.(Ser144Leufs*6) - Both (homozygous) - pathogenic g.58431307del g.58204172del - - FANCL_000008 - - - - Germline yes - - - - DNA SEQp, SEQ-NG-I blood - VACTERLX - PubMed: Vetro 2015 - F ? Netherlands - 00y00m02d - no - 1 Annalisa Vetro
+/. - c.430del r.(?) p.(Ser144LeufsTer6) - Unknown - pathogenic g.58431307del g.58204172del FANCL(NM_001114636.1):c.430delT (p.S144Lfs*6) - FANCL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430del r.(?) p.(Ser144LeufsTer6) - Unknown - pathogenic g.58431307del - FANCL(NM_001114636.1):c.430delT (p.S144Lfs*6) - FANCL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.472-1G>C r.spl? p.? - Unknown - likely pathogenic g.58425798C>G g.58198663C>G FANCL(NM_001114636.1):c.472-1G>C, FANCL(NM_018062.4):c.472-1G>C - FANCL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.472-1G>C r.spl? p.? - Unknown - likely pathogenic g.58425798C>G - FANCL(NM_001114636.1):c.472-1G>C, FANCL(NM_018062.4):c.472-1G>C - FANCL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.540+10_540+24del r.(=) p.(=) - Unknown - VUS g.58425720_58425734del g.58198585_58198599del FANCL(NM_001114636.1):c.550_555+9delCCTCAGGTAAATTCT - FANCL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546C>T r.(?) p.(Ser182=) - Unknown - likely benign g.58393004G>A g.58165869G>A FANCL(NM_001114636.1):c.561C>T (p.(=)) - FANCL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.627_631del r.(?) p.(Glu209Aspfs*5) - Unknown - pathogenic g.58392921_58392925del - FANCL(NM_018062.4):c.627_631delGAAGA (p.E209Dfs*5) - FANCL_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.636G>A r.(?) p.(Trp212Ter) - Unknown - pathogenic g.58392914C>T - FANCL(NM_001114636.1):c.651G>A (p.W217*) - FANCL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670A>G r.(?) p.(Thr224Ala) - Unknown - likely benign g.58392880T>C - FANCL(NM_018062.3):c.670A>G (p.T224A) - FANCL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676C>T r.(?) p.(Arg226Cys) - Unknown - VUS g.58392874G>A g.58165739G>A FANCL(NM_001114636.1):c.691C>T (p.R231C) - FANCL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.692-2A>G r.spl? p.? - Unknown - likely pathogenic g.58390654T>C - - - FANCL_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.739dup r.(?) p.(Met247Asnfs*4) - Unknown - pathogenic (recessive) g.58390605dup g.58163470dup 739dupA - FANCL_000029 - - - - Germline/De novo (untested) - - - - - DNA PCR - - POF - - - F no China Asian - - - - 1 Yajuan Yang
-?/. - c.776-10del r.(=) p.(=) - Unknown - likely benign g.58390230del g.58163095del FANCL(NM_001114636.1):c.791-10delT - FANCL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.822-15dup r.(=) p.(=) - Unknown - benign g.58390103dup - FANCL(NM_018062.3):c.822-15dupT - FANCL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822-15T>C r.(=) p.(=) - Unknown - likely benign g.58390097A>G g.58162962A>G FANCL(NM_001114636.1):c.837-15T>C - FANCL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i c.822-15_822-9delins177 r.822_903del p.fs*) FA Parent #2 - pathogenic g.58390097_58390091delins - - - FANCL_000001 homo- or hemizygous ins177bp in pyrimidine-rich sequence IVS10 believed to disrupt splicing exons 10 and 12 Variant Error [ESYNTAX]: This genomic variant has an error (char 40: expected EOF). Please fix this entry and then remove this message. PubMed: Meetei 2003 - - Germline ? - - - - DNA, RNA RT-PCR, SEQ - - FANCL - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 11 c.871_874del r.(?) p.(D291Ffs*49) FA Paternal (confirmed) - VUS g.58390033_58390036del g.58162898_58162901del - - FANCL_000006 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCL - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
+/. - c.933T>A r.(?) p.(Tyr311Ter) - Unknown - pathogenic g.58388744A>T g.58161609A>T - - FANCL_000041 - Yuen (unpublished) - - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_06 Yuen (unpublished) - F - Singapore China - - - - 1 Jeanette Yuen
-/. - c.981T>C r.(?) p.(Ser327=) - Unknown - benign g.58388696A>G g.58161561A>G FANCL(NM_001114636.1):c.996T>C (p.S332=) - FANCL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1007_1009del r.(?) p.(Ile336_Cys337delinsSer) FA Maternal (confirmed) - pathogenic g.58388668_58388670del g.58161533_58161535del 1007_1009delTAT - FANCL_000002 - PubMed: Ali 2009 - - Germline ? - - - - DNA SEQ - - FANCL - - - M ? - - - - - - 1 Arleen D. Auerbach
+/. 12 c.1007_1009del r.(?) p.(Ile336_Cys337delinsSer) FA Paternal (confirmed) - pathogenic g.58388668_58388670del g.58161533_58161535del 1007_1009delTAT - FANCL_000002 - PubMed: Ali 2009 - - Germline ? - - - - DNA, RNA RT-PCR, SEQ - - FANCL - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
-?/. - c.1020+15T>C r.(=) p.(=) - Unknown - likely benign g.58388642A>G g.58161507A>G FANCL(NM_001114636.1):c.1035+15T>C - FANCL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1028G>C r.(?) p.(Arg343Thr) - Unknown - VUS g.58387307C>G - FANCL(NM_018062.4):c.1028G>C (p.(Arg343Thr)) - FANCL_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1048_1051del r.(?) p.(Gln350Valfs*18) - Paternal (confirmed) - likely pathogenic g.58387287_58387290del g.58160152_58160155del - - FANCL_000030 - - - - Germline - - - - - DNA PCR - - POF - - - F no China Asian - - - - 1 Yajuan Yang
-/. - c.1077T>C r.(?) p.(Cys359=) - Unknown - benign g.58387258A>G g.58160123A>G FANCL(NM_001114636.1):c.1092T>C (p.C364=), FANCL(NM_018062.4):c.1077T>C (p.(Cys359=)) - FANCL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077T>C r.(=) p.(=) - Parent #1 - benign g.58387258A>G g.58160123A>G - - FANCL_000011 29 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11539575 Germline - 29/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 29 Mohammed Faruq
-?/. - c.1077T>C r.(?) p.(Cys359=) - Unknown - likely benign g.58387258A>G - FANCL(NM_001114636.1):c.1092T>C (p.C364=), FANCL(NM_018062.4):c.1077T>C (p.(Cys359=)) - FANCL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1092G>A r.1021_1092del p.Trp341_Lys364del FA Paternal (inferred) - pathogenic g.58387243C>T g.58160108C>T K364K - FANCL_000005 - PubMed: Chandrasekharappa 2013 - - Germline ? - - - - DNA, RNA RT-PCR, SEQ - - FANCL - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 13 c.1092G>A r.1021_1092del p.Trp341_Lys364del FA Maternal (inferred) - pathogenic g.58387243C>T g.58160108C>T K364K - FANCL_000005 - PubMed: Chandrasekharappa 2013 - - Germline ? - - - - DNA, RNA RT-PCR, SEQ - - FANCL - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 14 c.1096_1099dup r.(?) p.(Thr367Asnfs*13) FA Paternal (confirmed) - pathogenic g.58386930_58386933dup g.58159795_58159798dup 1095_1098dupAATT - FANCL_000003 - PubMed: Ali 2009 - - Germline ? - - - - DNA SEQ - - FANCL - - - M ? - - - - - - 1 Arleen D. Auerbach
+?/. 14 c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown - likely pathogenic g.58386930_58386933dup g.58159795_58159798dup 1096_1099dupATTA - FANCL_000003 - - - - Germline - - - - - DNA SEQ-NG-S blood - cancer, breast - - - F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.1096_1099dup r.(?) p.(Thr367AsnfsTer13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup FANCL(NM_001114636.1):c.1111_1114dup (p.(Thr372Asnfs*13)), FANCL(NM_001114636.1):c.1111_1114dupATTA (p.T372Nfs*13) - FANCL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096_1099dup r.(?) p.(Thr367AsnfsTer13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup FANCL(NM_001114636.1):c.1111_1114dup (p.(Thr372Asnfs*13)), FANCL(NM_001114636.1):c.1111_1114dupATTA (p.T372Nfs*13) - FANCL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096_1099dup r.(?) p.(Thr367AsnfsTer13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup FANCL(NM_001114636.1):c.1111_1114dup (p.(Thr372Asnfs*13)), FANCL(NM_001114636.1):c.1111_1114dupATTA (p.T372Nfs*13) - FANCL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup 1096_1099dupATTA - FANCL_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
+?/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup 1096_1099dupATTA - FANCL_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
+?/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup 1096_1099dupATTA - FANCL_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
+?/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup 1096_1099dupATTA - FANCL_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
+?/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup 1096_1099dupATTA - FANCL_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.1096_1099dup r.(?) p.(Thr367AsnfsTer13) - Unknown - VUS g.58386930_58386933dup g.58159795_58159798dup FANCL(NM_001114636.1):c.1111_1114dup (p.(Thr372Asnfs*13)), FANCL(NM_001114636.1):c.1111_1114dupATTA (p.T372Nfs*13) - FANCL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown ACMG pathogenic g.58386930_58386933dup g.58159795_58159798dup NM_001114636.1:c.1111_1114dup (Thr372fs) - FANCL_000003 - - - rs759217526 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0260 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1096_1099dup r.(?) p.(Thr367Asnfs*13) - Unknown ACMG pathogenic g.58386930_58386933dup g.58159795_58159798dup NM_001114636.1:c.1111_1114dup (Thr372fs) rs759217526 FANCL_000003 - - - rs759217526 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon UCDMX016 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
?/. - c.*75646G>T r.(=) p.(=) - Unknown - VUS g.58311254C>A g.58084119C>A VRK2(NM_001130480.2):c.167C>A (p.(Ala56Glu)) - VRK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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