Full data view for gene ERCC3

Information The variants shown are described using the NM_000122.1 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.25C>G r.(?) p.(Arg9Gly) Unknown - likely benign g.128051633G>C g.127294057G>C ERCC3(NM_000122.1):c.25C>G (p.(Arg9Gly)) - ERCC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29-15G>T r.(=) p.(=) Unknown - likely benign g.128051309C>A - ERCC3(NM_000122.2):c.29-15G>T - ERCC3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.36_38del r.(?) p.(Lys13del) Unknown - VUS g.128051290_128051292del g.127293714_127293716del ERCC3(NM_000122.1):c.36_38delGAA (p.K13del) - ERCC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Ala42=) Unknown - likely benign g.128051197C>T g.127293621C>T ERCC3(NM_000122.2):c.126G>A (p.A42=) - ERCC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144G>C r.(?) p.(Glu48Asp) Unknown - likely benign g.128051179C>G g.127293603C>G ERCC3(NM_000122.1):c.144G>C (p.E48D) - ERCC3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224C>T r.(?) p.(Pro75Leu) Unknown - VUS g.128051099G>A - ERCC3(NM_000122.2):c.224C>T (p.(Pro75Leu)) - ERCC3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Pro80=) Unknown - likely benign g.128050417G>A g.127292841G>A ERCC3(NM_000122.1):c.240C>T (p.P80=) - ERCC3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.296T>C r.(?) p.(Phe99Ser) Both (homozygous) - pathogenic (recessive) g.128050361A>G g.127292785A>G - - ERCC3_000048 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP84BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.296T>C r.(?) p.(Phe99Ser) Parent #1 - pathogenic (recessive) g.128050361A>G g.127292785A>G - - ERCC3_000048 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP1SA PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) mixed 55y - - - 1 Johan den Dunnen
+/. - c.325C>T r.(?) p.(Arg109Ter) Unknown - pathogenic g.128050332G>A g.127292756G>A ERCC3(NM_000122.1):c.325C>T (p.R109*), ERCC3(NM_001303418.2):c.133C>T (p.R45*) - ERCC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.325C>T r.(?) p.(Arg109*) Unknown - pathogenic g.128050332G>A g.127292756G>A - - ERCC3_000011 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.325C>T r.(?) p.(Arg109Ter) Unknown - pathogenic g.128050332G>A g.127292756G>A ERCC3(NM_000122.1):c.325C>T (p.R109*), ERCC3(NM_001303418.2):c.133C>T (p.R45*) - ERCC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326G>A r.(?) p.(Arg109Gln) Unknown - VUS g.128050331C>T - ERCC3(NM_000122.2):c.326G>A (p.R109Q) - ERCC3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362A>G r.(?) p.(Tyr121Cys) Unknown - VUS g.128050295T>C - ERCC3(NM_000122.2):c.362A>G (p.(Tyr121Cys)) - ERCC3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Tyr139=) Unknown - likely benign g.128050240G>A g.127292664G>A ERCC3(NM_000122.1):c.417C>T (p.Y139=) - ERCC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Tyr139=) Unknown - likely benign g.128050240G>A g.127292664G>A ERCC3(NM_000122.1):c.417C>T (p.Y139=) - ERCC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.576C>T r.(?) p.(Pro192=) Unknown - likely benign g.128047346G>A - ERCC3(NM_001303418.1):c.384C>T (p.P128=) - ERCC3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.576_583del r.(?) p.(Val193Argfs*8) Unknown - pathogenic g.128047341_128047348del g.127289765_127289772del 576_583delCGTGATCC - ERCC3_000015 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
-?/. - c.611G>A r.(?) p.(Gly204Glu) Unknown - likely benign g.128047311C>T g.127289735C>T ERCC3(NM_001303418.1):c.419G>A (p.G140E) - ERCC3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.615G>A r.(?) p.(Glu205=) Unknown - benign g.128047307C>T g.127289731C>T ERCC3(NM_001303418.1):c.423G>A (p.E141=) - ERCC3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618C>T r.(?) p.(Ala206=) Unknown - likely benign g.128047304G>A - ERCC3(NM_000122.1):c.618C>T (p.A206=), ERCC3(NM_001303418.1):c.426C>T (p.A142=) - ERCC3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618C>T r.(?) p.(Ala206=) Unknown - likely benign g.128047304G>A - ERCC3(NM_000122.1):c.618C>T (p.A206=), ERCC3(NM_001303418.1):c.426C>T (p.A142=) - ERCC3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657C>T r.(?) p.(=) Unknown - likely benign g.128047265G>A - ERCC3(NM_000122.2):c.657C>T (p.(Ala219=)) - ERCC3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.760C>T r.(?) p.(Gln254Ter) Unknown - pathogenic g.128046975G>A g.127289399G>A ERCC3(NM_000122.2):c.760C>T (p.(Gln254*)), ERCC3(NM_001303418.1):c.568C>T (p.Q190*) - ERCC3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.760C>T r.(?) p.(Gln254Ter) Unknown - pathogenic g.128046975G>A - ERCC3(NM_000122.2):c.760C>T (p.(Gln254*)), ERCC3(NM_001303418.1):c.568C>T (p.Q190*) - ERCC3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789_791del r.(?) p.(Glu264del) Unknown - likely benign g.128046958_128046960del g.127289382_127289384del ERCC3(NM_000122.2):c.789_791del (p.(Glu264del)), ERCC3(NM_000122.2):c.789_791delAGA (p.E264del) - ERCC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.789_791del r.(?) p.(Glu264del) Unknown - VUS g.128046958_128046960del - ERCC3(NM_000122.2):c.789_791del (p.(Glu264del)), ERCC3(NM_000122.2):c.789_791delAGA (p.E264del) - ERCC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801A>G r.(?) p.(Thr267=) Unknown - likely benign g.128046934T>C g.127289358T>C ERCC3(NM_000122.1):c.801A>G (p.T267=) - ERCC3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822+14C>T r.(=) p.(=) Unknown - likely benign g.128046899G>A g.127289323G>A ERCC3(NM_000122.2):c.822+14C>T - ERCC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847C>T r.(?) p.(Arg283Cys) Unknown - VUS g.128046416G>A g.127288840G>A ERCC3(NM_000122.2):c.847C>T (p.(Arg283Cys), p.R283C), ERCC3(NM_001303418.1):c.655C>T (p.R219C) - ERCC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.847C>T r.(?) p.(Arg283Cys) Unknown - likely benign g.128046416G>A g.127288840G>A ERCC3(NM_000122.2):c.847C>T (p.(Arg283Cys), p.R283C), ERCC3(NM_001303418.1):c.655C>T (p.R219C) - ERCC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847C>T r.(?) p.(Arg283Cys) Unknown - VUS g.128046416G>A - ERCC3(NM_000122.2):c.847C>T (p.(Arg283Cys), p.R283C), ERCC3(NM_001303418.1):c.655C>T (p.R219C) - ERCC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.847C>T r.(?) p.(Arg283Cys) Unknown - likely benign g.128046416G>A - ERCC3(NM_000122.2):c.847C>T (p.(Arg283Cys), p.R283C), ERCC3(NM_001303418.1):c.655C>T (p.R219C) - ERCC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917T>C r.(?) p.(Ile306Thr) Unknown - VUS g.128046346A>G - ERCC3(NM_001303418.1):c.725T>C (p.I242T) - ERCC3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1005G>A r.(?) p.(Ser335=) Unknown - likely benign g.128046258C>T - ERCC3(NM_000122.1):c.1005G>A (p.S335=) - ERCC3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008G>A r.(?) p.(Gly336=) Unknown - likely benign g.128046255C>T - ERCC3(NM_001303418.2):c.816G>A (p.G272=) - ERCC3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1027+3A>G r.spl? p.? Unknown - benign g.128046233T>C - ERCC3(NM_000122.1):c.1027+3A>G - ERCC3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1028-16C>T r.(=) p.(=) Unknown - likely benign g.128044609G>A - ERCC3(NM_000122.1):c.1028-16C>T - ERCC3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1055C>A r.(?) p.(Thr352Asn) Unknown - VUS g.128044566G>T g.127286990G>T ERCC3(NM_001303418.1):c.863C>A (p.T288N) - ERCC3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1078C>T r.(?) p.(Arg360Cys) Unknown - VUS g.128044543G>A - ERCC3(NM_001303418.1):c.886C>T (p.R296C) - ERCC3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110T>C r.(?) p.(Ser370=) Unknown - likely benign g.128044511A>G - ERCC3(NM_001303418.1):c.918T>C (p.S306=) - ERCC3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119G>A r.(?) p.(Gln373=) Unknown - likely benign g.128044502C>T - ERCC3(NM_000122.1):c.1119G>A (p.Q373=) - ERCC3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1153G>A r.(?) p.(Asp385Asn) Unknown - VUS g.128044468C>T g.127286892C>T ERCC3(NM_000122.1):c.1153G>A (p.(Asp385Asn)) - ERCC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270G>A r.(?) p.(Glu424Lys) Unknown - VUS g.128044351C>T - ERCC3(NM_000122.2):c.1270G>A (p.E424K) - ERCC3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1273C>T r.(?) p.(Arg425*) Parent #2 - pathogenic (recessive) g.128044348G>A g.127286772G>A - - ERCC3_000047 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP1SA PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) mixed 55y - - - 1 Johan den Dunnen
-?/. - c.1335C>T r.(?) p.(Thr445=) Unknown - likely benign g.128044286G>A - ERCC3(NM_000122.1):c.1335C>T (p.T445=) - ERCC3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1485G>A r.(?) p.(Glu495=) Unknown - benign g.128038065C>T g.127280489C>T ERCC3(NM_000122.1):c.1485G>A (p.E495=), ERCC3(NM_000122.2):c.1485G>A (p.E495=) - ERCC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1485G>A r.(?) p.(Glu495=) Unknown - likely benign g.128038065C>T - ERCC3(NM_000122.1):c.1485G>A (p.E495=), ERCC3(NM_000122.2):c.1485G>A (p.E495=) - ERCC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1528-9G>A r.(=) p.(=) Unknown - likely benign g.128036960C>T - ERCC3(NM_001303418.1):c.1336-9G>A - ERCC3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1588C>T r.(?) p.(Arg530*) Unknown ACMG likely pathogenic (recessive) g.128036891G>A g.127279315G>A - - ERCC3_000044 - - 808798 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_04 - - F ? Brazil - - - - - 1 Giovana Torrezan
+/. - c.1720C>T r.(?) p.(Arg574Ter) Unknown - pathogenic g.128036759G>A g.127279183G>A ERCC3(NM_001303418.2):c.1528C>T (p.R510*) - ERCC3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1750A>G r.(?) p.(Thr584Ala) Unknown - VUS g.128030518T>C - ERCC3(NM_000122.2):c.1750A>G (p.T584A) - ERCC3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1757del r.(?) p.(Gln586ArgfsTer25) Unknown - pathogenic g.128030511del g.127272935del ERCC3(NM_000122.2):c.1757delA (p.Q586Rfs*25), ERCC3(NM_001303418.1):c.1565delA (p.Q522Rfs*25) - ERCC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1757del r.(?) p.(Gln586ArgfsTer25) Unknown - pathogenic g.128030511del - ERCC3(NM_000122.2):c.1757delA (p.Q586Rfs*25), ERCC3(NM_001303418.1):c.1565delA (p.Q522Rfs*25) - ERCC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1757del r.(?) p.(Gln586ArgfsTer25) Unknown - VUS g.128030511del - ERCC3(NM_000122.2):c.1757delA (p.Q586Rfs*25), ERCC3(NM_001303418.1):c.1565delA (p.Q522Rfs*25) - ERCC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1757delA r.(?) p.(Gln586ArgfsTer25) Unknown ACMG pathogenic g.128030511del g.127272935del ERCC3 c.1757delA p.(Gln586ArgfsTer25) het - ERCC3_000004 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15015181 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1762G>T r.(?) p.(Glu588*) Unknown - pathogenic g.128030506C>A - ERCC3(NM_001303418.1):c.1570G>T (p.E524*) - ERCC3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1960G>A r.(?) p.(Glu654Lys) Unknown - likely benign g.128018908C>T g.127261332C>T ERCC3(NM_000122.1):c.1960G>A (p.(Glu654Lys)) - ERCC3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1962G>C r.(?) p.(Glu654Asp) Unknown - benign g.128018906C>G g.127261330C>G ERCC3(NM_000122.2):c.1962G>C (p.E654D) - ERCC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2080G>A r.(?) p.(Ala694Thr) Unknown - likely benign g.128017009C>T g.127259433C>T ERCC3(NM_001303418.1):c.1888G>A (p.A630T) - ERCC3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2111C>T r.(?) p.(Ser704Leu) Unknown - VUS g.128016978G>A g.127259402G>A ERCC3(NM_000122.1):c.2111C>T (p.S704L), ERCC3(NM_000122.2):c.2111C>T (p.S704L), ERCC3(NM_001303418.1):c.1919C>T (p.S640L) - ERCC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2111C>T r.(?) p.(Ser704Leu) Unknown - VUS g.128016978G>A g.127259402G>A ERCC3(NM_000122.1):c.2111C>T (p.S704L), ERCC3(NM_000122.2):c.2111C>T (p.S704L), ERCC3(NM_001303418.1):c.1919C>T (p.S640L) - ERCC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2111C>T r.(?) p.(Ser704Leu) Unknown - likely benign g.128016978G>A - ERCC3(NM_000122.1):c.2111C>T (p.S704L), ERCC3(NM_000122.2):c.2111C>T (p.S704L), ERCC3(NM_001303418.1):c.1919C>T (p.S640L) - ERCC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2112G>A r.(?) p.(Ser704=) Unknown - likely benign g.128016977C>T g.127259401C>T ERCC3(NM_000122.1):c.2112G>A (p.S704=) - ERCC3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2218-6C>T r.(=) p.(=) Unknown - likely benign g.128015309G>A - ERCC3(NM_000122.2):c.2218-6C>T - ERCC3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2268T>C r.(?) p.(Thr756=) Unknown - likely benign g.128015253A>G g.127257677A>G ERCC3(NM_001303418.1):c.2076T>C (p.T692=) - ERCC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2304G>A r.(?) p.(=) Unknown - likely benign g.128015217C>T - ERCC3(NM_000122.2):c.2304G>A (p.A768=) - ERCC3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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