Table 2.

The individual characteristics of study subjects at initial investigations

Patient IDFamily IDInitial disease conditionAge (y)ERCC6L2 genotype c.(NM_0202027.7)ERCC6L2 genotype p.(NP_064592.3)Somatic TP53 clones in BM or PB (NM_000546.6; VAF)Other somatic clones (VAF)
EP1∗  EF1 BMF 2 c.[3409_3410del]; [3763C>T] p.[(Met1137GlufsTer7)];[(Arg1255Ter)] N/A N/A 
EP2∗  EF2 BMF 5 c.[1973G>A];[1973G>A] p.[(Ser658Asn)];[(Ser658Asn)] N/A N/A 
EP3∗  EF3 BMF 6 c.[1930C>T];[1930C>T] p.[(Arg644Ter)];[(Arg644Ter)] Yes, variant N/A (4.8%) No 
EP4∗  EF4 BMF 7 c.[2156del];[3675-2A>T] p.[(Gly719AspfsTer50)];[(?)] N/A N/A 
EP5 EF5 BMF 7 c.[3492+2T>G];[3492+2T>G] p.[(?)];[(?)] N/A N/A 
EP6∗  EF6 BMF 8 c.[2734del];[2734del] p.[(Glu912ArgfsTer8)]; [(Glu912ArgfsTer8)] N/A N/A 
EP7∗  EF7 BMF 8 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] Not detected initially, at age 15 y c.638G>T p.(Arg213Leu) (3%) N/A 
EP8∗  EF8 BMF 8 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] N/A N/A 
EP9 EF9 BMF 9 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] Not detected (latest screen at 10 y) N/A 
EP10∗  EF7 BMF 9 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.742C>T, p.(Arg248Trp) (1.5%) N/A 
EP11∗  EF10 BMF 10 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.659A>G, p.(Tyr220Cys) (36%); c.725G>T, p.(Cys242Phe) (3%) No 
EP12 EF11 BMF 11 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.723del, p.(Cys242AlafsTer5) (3%), c.376-2A>G (4.2%), c. 733G>A, p.(Gly245Ser) (41%) TET2 c.4102T>C, p.(Phe1368Leu) (2%) 
EP13 EF12 BMF 11 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] Not detected (latest screen at 11 y) No 
EP14 EF13 BMF 12 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.524G>A, p. (Arg175His)(7%) N/A 
EP15 EF14 BMF 12 c.[19C>T];[2156del] p.[(Gln7Ter)];[(Gly719AspfsTer50)] N/A N/A 
EP16∗  EF2 BMF 12 c.[1973G>A];[1973G>A] p.[(Ser658Asn)];[(Ser658Asn)] N/A N/A 
EP17 EF15 BMF 12 c.[1930C>T];[1930C>T] p.[(Arg644Ter)];[(Arg644Ter)] c.742C>T, p.(Arg248Trp) (18.7%) No 
EP18∗  EF4 BMF 13 c.[2156del];[3675-2A>T] p.[(Gly719AspfsTer50)];[(?)] N/A N/A 
EP19∗  EF16 BMF 13 c.[1930C>T];[1930C>T] p.[(Arg644Ter)];[(Arg644Ter)] N/A N/A 
EP20∗  EF17 BMF 14 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.646G>A, p.(Val216Met) (1.3%) No 
EP21∗  EF18 BMF 17 c.[2156del];[3300_3303del] p.[(Gly719AspfsTer50)];[(Asn1100LysfsTer12)] N/A N/A 
EP22∗  EF19 BMF 18 c.[1471C>T];[3796C>T] p.[(Gln491Ter)];[(Arg1266Ter)] N/A N/A 
EP23∗  EF20 BMF 20 c.[1203_1206del];[1203_1206del] p.[(Thr402CysfsTer2)];[(Thr402CysfsTer2)] N/A N/A 
EP24 EF21 BMF 20 c.[1606_1751del];[1606_1751del] p.[(Leu536GlyfsTer18)];[(Leu536GlyfsTer18)] c.745A>T, p.(Arg249Trp) (15%); c.514G>T, p.(Val172Phe) (4%); c.737T>A, p.(Met246Lys) (2%) No 
EP25 EF22 BMF 21 c.[1606-141_1752-2788del];[1606-141_1752-2788del] p.[(?)];[(?)] c.569C>T, p.(Pro190Leu) (5%) No 
EP26 EF23 BMF 24 c.[1606-141_1752-2788del];[1606-141_1752-2788del] p.[(?)];[(?)] c.743G>A, p.(Arg248Gln) (35%) No 
EP27 EF24 BMF 30 c.[2474_2484delinsAAAG];[2474_2484delinsAAAG] p.[(Thr825LysfsTer25)];[(Thr825LysfsTer25)] Not detected No 
EP28 EF25 BMF 32 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.713G>A, p.(Cys238Tyr), (19%) N/A 
EP29 EF25 BMF 33 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.659A>G, p.(Tyr220Cys) (3%); later new clone c.716A>G p.(Asn239Ser) (5%) No 
EP30∗,†  EF26 BMF 34 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] N/A N/A 
EP31∗  EF27 BMF 36 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.742C>T, p.(Arg248Trp) (15%); c.818G>T, p.(Arg273Leu) (2.5%); c.814G>A, p.(Val272Met) (2%); later new clone c.41T>C, p.(Leu14Pro) (1.5%) No 
EP32∗  EF17 BMF 57 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.743G>A, p.(Arg248Gln) (5%); c.830G>T, p.(Cys277Phe) (23%); c.843C>A, p.(Asp281Glu) (11%); later new clone c.528C>G, p.(Cys176Trp) (9%) No 
EP33∗  EF28 MDS 12 c.[2919_2923del];[2919_2923del] p.[(Lys974HisfsTer3)];[(Lys974HisfsTer3)] N/A N/A 
EP34 EF29 T-ALL 12 c.[1424del];[1930C>T] p.[(Ile475ThrfsTer36)];[(Arg644Ter)] c.730G>A, p.(Gly244Ser) (94%) TET2 c.5860G>A (p.Ala1954Thr) (52.4%) 
EP35∗  EF19 MDS 21 c.[1471C>T];[3796C>T] p.[(Gln491Ter)];[(Arg1266Ter)] N/A N/A 
EP36∗  EF30 MDS 22 c.[814G>A];[814G>A] p.[(Asp272Asn)];[(Asp272Asn)] N/A N/A 
EP37∗  EF23 MDS 22 c.[1606-141_1752-2788del];[1606-141_1752-2788del] p.[(?)];[(?)] Variant unknown (20%) N/A 
EP38∗  EF31 MDS-F 25 c.[4421_4422del];[1424del] p.[(Arg1474ThrfsTer10)];[(Ile475ThrfsTer36)] c.742C>T, p.(Arg248Trp) (9%); c.818G>T, p.(Arg273Leu) (13%) No 
EP39 EF32 MDS 29 c.[1424del];[1847+1G>A] p.[(Ile475ThrfsTer36)];[(?)] c.524G>A, p.Arg175His (27%); c.818G>A, p.(Arg273His) (5%) No 
EP40∗  EF33 MDS 36 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.517G>A, p.(Val173Met)(72%) No 
EP41 EF34 MDS 36 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.524G>A, p.(Arg175His) (6%) NRAS c.38G>A p. (Gly13Asp) (2%); CBL c.1273_1281del p.(Gly425_Glu427del) (0.5%) 
EP42∗,†  EF17 MDS 38 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] N/A N/A 
EP43∗  EF33 MDS/AML 38 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.532C>G, p.(His178Asp) (35%) No 
EP44 EF35 MDS/AML 40 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.817C>T, p.(Arg273Cys) (38%) No 
EP45 EF32 AML 20 c.[1424del];[1847+1G>A] p.[(Ile475ThrfsTer36)];[(?)] IHC TP53+++ NA 
EP46∗  EF17 AML 59 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.818G>T, p.(Arg273Leu) (VAF N/A) N/A 
EP47∗  EF26 AML 65 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.577C>T, p.(His193Tyr); c.818G>A, p.(Arg273His) (VAF N/A) N/A 
EP48∗  EF28 Sibling with biallelic ERCC6L2 variants 3 c.[2919_2923del];[2919_2923del] p.[(Lys974HisfsTer3)];[(Lys974HisfsTer3)] N/A N/A 
EP49∗  EF2 Sibling with biallelic ERCC6L2 variants 4 c.[1973G>A];[1973G>A] p.[(Ser658Asn)];[(Ser658Asn)] N/A N/A 
EP50∗  EF1 Sibling with biallelic ERCC6L2 variants 11 c.[3409_3410del];[3763C>T] p.[(Met1137GlufsTer7)];[(Arg1255Ter)] N/A N/A 
EP51∗  EF1 Sibling with biallelic ERCC6L2 variants 18 c.[3409_3410del];[3763C>T] p.[(Met1137GlufsTer7)];[(Arg1255Ter)] N/A N/A 
EP52 EF35 Sibling with biallelic ERCC6L2 variants 41 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.490A>G, p.(Lys164Glu) (9%) No 
Patient IDFamily IDInitial disease conditionAge (y)ERCC6L2 genotype c.(NM_0202027.7)ERCC6L2 genotype p.(NP_064592.3)Somatic TP53 clones in BM or PB (NM_000546.6; VAF)Other somatic clones (VAF)
EP1∗  EF1 BMF 2 c.[3409_3410del]; [3763C>T] p.[(Met1137GlufsTer7)];[(Arg1255Ter)] N/A N/A 
EP2∗  EF2 BMF 5 c.[1973G>A];[1973G>A] p.[(Ser658Asn)];[(Ser658Asn)] N/A N/A 
EP3∗  EF3 BMF 6 c.[1930C>T];[1930C>T] p.[(Arg644Ter)];[(Arg644Ter)] Yes, variant N/A (4.8%) No 
EP4∗  EF4 BMF 7 c.[2156del];[3675-2A>T] p.[(Gly719AspfsTer50)];[(?)] N/A N/A 
EP5 EF5 BMF 7 c.[3492+2T>G];[3492+2T>G] p.[(?)];[(?)] N/A N/A 
EP6∗  EF6 BMF 8 c.[2734del];[2734del] p.[(Glu912ArgfsTer8)]; [(Glu912ArgfsTer8)] N/A N/A 
EP7∗  EF7 BMF 8 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] Not detected initially, at age 15 y c.638G>T p.(Arg213Leu) (3%) N/A 
EP8∗  EF8 BMF 8 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] N/A N/A 
EP9 EF9 BMF 9 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] Not detected (latest screen at 10 y) N/A 
EP10∗  EF7 BMF 9 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.742C>T, p.(Arg248Trp) (1.5%) N/A 
EP11∗  EF10 BMF 10 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.659A>G, p.(Tyr220Cys) (36%); c.725G>T, p.(Cys242Phe) (3%) No 
EP12 EF11 BMF 11 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.723del, p.(Cys242AlafsTer5) (3%), c.376-2A>G (4.2%), c. 733G>A, p.(Gly245Ser) (41%) TET2 c.4102T>C, p.(Phe1368Leu) (2%) 
EP13 EF12 BMF 11 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] Not detected (latest screen at 11 y) No 
EP14 EF13 BMF 12 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.524G>A, p. (Arg175His)(7%) N/A 
EP15 EF14 BMF 12 c.[19C>T];[2156del] p.[(Gln7Ter)];[(Gly719AspfsTer50)] N/A N/A 
EP16∗  EF2 BMF 12 c.[1973G>A];[1973G>A] p.[(Ser658Asn)];[(Ser658Asn)] N/A N/A 
EP17 EF15 BMF 12 c.[1930C>T];[1930C>T] p.[(Arg644Ter)];[(Arg644Ter)] c.742C>T, p.(Arg248Trp) (18.7%) No 
EP18∗  EF4 BMF 13 c.[2156del];[3675-2A>T] p.[(Gly719AspfsTer50)];[(?)] N/A N/A 
EP19∗  EF16 BMF 13 c.[1930C>T];[1930C>T] p.[(Arg644Ter)];[(Arg644Ter)] N/A N/A 
EP20∗  EF17 BMF 14 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.646G>A, p.(Val216Met) (1.3%) No 
EP21∗  EF18 BMF 17 c.[2156del];[3300_3303del] p.[(Gly719AspfsTer50)];[(Asn1100LysfsTer12)] N/A N/A 
EP22∗  EF19 BMF 18 c.[1471C>T];[3796C>T] p.[(Gln491Ter)];[(Arg1266Ter)] N/A N/A 
EP23∗  EF20 BMF 20 c.[1203_1206del];[1203_1206del] p.[(Thr402CysfsTer2)];[(Thr402CysfsTer2)] N/A N/A 
EP24 EF21 BMF 20 c.[1606_1751del];[1606_1751del] p.[(Leu536GlyfsTer18)];[(Leu536GlyfsTer18)] c.745A>T, p.(Arg249Trp) (15%); c.514G>T, p.(Val172Phe) (4%); c.737T>A, p.(Met246Lys) (2%) No 
EP25 EF22 BMF 21 c.[1606-141_1752-2788del];[1606-141_1752-2788del] p.[(?)];[(?)] c.569C>T, p.(Pro190Leu) (5%) No 
EP26 EF23 BMF 24 c.[1606-141_1752-2788del];[1606-141_1752-2788del] p.[(?)];[(?)] c.743G>A, p.(Arg248Gln) (35%) No 
EP27 EF24 BMF 30 c.[2474_2484delinsAAAG];[2474_2484delinsAAAG] p.[(Thr825LysfsTer25)];[(Thr825LysfsTer25)] Not detected No 
EP28 EF25 BMF 32 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.713G>A, p.(Cys238Tyr), (19%) N/A 
EP29 EF25 BMF 33 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.659A>G, p.(Tyr220Cys) (3%); later new clone c.716A>G p.(Asn239Ser) (5%) No 
EP30∗,†  EF26 BMF 34 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] N/A N/A 
EP31∗  EF27 BMF 36 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.742C>T, p.(Arg248Trp) (15%); c.818G>T, p.(Arg273Leu) (2.5%); c.814G>A, p.(Val272Met) (2%); later new clone c.41T>C, p.(Leu14Pro) (1.5%) No 
EP32∗  EF17 BMF 57 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.743G>A, p.(Arg248Gln) (5%); c.830G>T, p.(Cys277Phe) (23%); c.843C>A, p.(Asp281Glu) (11%); later new clone c.528C>G, p.(Cys176Trp) (9%) No 
EP33∗  EF28 MDS 12 c.[2919_2923del];[2919_2923del] p.[(Lys974HisfsTer3)];[(Lys974HisfsTer3)] N/A N/A 
EP34 EF29 T-ALL 12 c.[1424del];[1930C>T] p.[(Ile475ThrfsTer36)];[(Arg644Ter)] c.730G>A, p.(Gly244Ser) (94%) TET2 c.5860G>A (p.Ala1954Thr) (52.4%) 
EP35∗  EF19 MDS 21 c.[1471C>T];[3796C>T] p.[(Gln491Ter)];[(Arg1266Ter)] N/A N/A 
EP36∗  EF30 MDS 22 c.[814G>A];[814G>A] p.[(Asp272Asn)];[(Asp272Asn)] N/A N/A 
EP37∗  EF23 MDS 22 c.[1606-141_1752-2788del];[1606-141_1752-2788del] p.[(?)];[(?)] Variant unknown (20%) N/A 
EP38∗  EF31 MDS-F 25 c.[4421_4422del];[1424del] p.[(Arg1474ThrfsTer10)];[(Ile475ThrfsTer36)] c.742C>T, p.(Arg248Trp) (9%); c.818G>T, p.(Arg273Leu) (13%) No 
EP39 EF32 MDS 29 c.[1424del];[1847+1G>A] p.[(Ile475ThrfsTer36)];[(?)] c.524G>A, p.Arg175His (27%); c.818G>A, p.(Arg273His) (5%) No 
EP40∗  EF33 MDS 36 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.517G>A, p.(Val173Met)(72%) No 
EP41 EF34 MDS 36 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.524G>A, p.(Arg175His) (6%) NRAS c.38G>A p. (Gly13Asp) (2%); CBL c.1273_1281del p.(Gly425_Glu427del) (0.5%) 
EP42∗,†  EF17 MDS 38 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] N/A N/A 
EP43∗  EF33 MDS/AML 38 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.532C>G, p.(His178Asp) (35%) No 
EP44 EF35 MDS/AML 40 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.817C>T, p.(Arg273Cys) (38%) No 
EP45 EF32 AML 20 c.[1424del];[1847+1G>A] p.[(Ile475ThrfsTer36)];[(?)] IHC TP53+++ NA 
EP46∗  EF17 AML 59 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.818G>T, p.(Arg273Leu) (VAF N/A) N/A 
EP47∗  EF26 AML 65 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.577C>T, p.(His193Tyr); c.818G>A, p.(Arg273His) (VAF N/A) N/A 
EP48∗  EF28 Sibling with biallelic ERCC6L2 variants 3 c.[2919_2923del];[2919_2923del] p.[(Lys974HisfsTer3)];[(Lys974HisfsTer3)] N/A N/A 
EP49∗  EF2 Sibling with biallelic ERCC6L2 variants 4 c.[1973G>A];[1973G>A] p.[(Ser658Asn)];[(Ser658Asn)] N/A N/A 
EP50∗  EF1 Sibling with biallelic ERCC6L2 variants 11 c.[3409_3410del];[3763C>T] p.[(Met1137GlufsTer7)];[(Arg1255Ter)] N/A N/A 
EP51∗  EF1 Sibling with biallelic ERCC6L2 variants 18 c.[3409_3410del];[3763C>T] p.[(Met1137GlufsTer7)];[(Arg1255Ter)] N/A N/A 
EP52 EF35 Sibling with biallelic ERCC6L2 variants 41 c.[1424del];[1424del] p.[(Ile475ThrfsTer36)];[(Ile475ThrfsTer36)] c.490A>G, p.(Lys164Glu) (9%) No 

Note the updated transcript (NM_0202027.7). Most previous studies reported variants in a previous transcript version; hence, the discrepancy in some cases.

MDS-F, MDS with fibrosis; N/A, not applicable; PB, peripheral blood.

∗

Previously reported.

†

Not tested.

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