PMID: 29845757

Pathway analysis of genetic variants in folate-mediated one-carbon metabolism-related genes and survival in a prospectively followed cohort of colorectal cancer patients.

Cancer medicine
J Ose, A Botma, Y Balavarca, K Buck, D Scherer, N Habermann, J Beyerle, K Pfütze, P Seibold, EJ Kap, A Benner, L Jansen, K Butterbach, M Hoffmeister, H Brenner, A Ulrich, M Schneider, J Chang-Claude, B Burwinkel, CM Ulrich
2018-05-29

428 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-105456303-T-A DPYS c.793+173A>T - IntronicSNV - 4/9
4-103496667-C-T NFKB1 c.408-1366C>T - IntronicSNV - 6/23
4-103496667-C-A NFKB1 c.408-1366C>A - IntronicSNV - 6/23
5-78409987-C-T BHMT c.34-1603C>T - IntronicSNV - 1/7
2-25483121-G-A DNMT3A c.640-12000C>T - IntronicSNV - 6/22
1-97853443-T-C DPYD c.1906-5426A>G - IntronicSNV - 14/22
13-95843575-T-C ABCC4 c.1264-2779A>G - IntronicSNV - 9/30
17-72876979-G-C FADS6 c.726+219C>G - IntronicSNV - 4/5
21-46957794-T-G SLC19A1 c.80A>C p.His27Pro Missense 2/6 -
1-97607837-G-T DPYD c.2623-43649C>A - IntronicSNV - 20/22
1-97607837-G-C DPYD c.2623-43649C>G - IntronicSNV - 20/22
22-31022952-C-T TCN2 c.*444C>T - 3-UTRSNV 9/9 -
1-53283088-A-T ZYG11B c.2044+787A>T - IntronicSNV - 13/13
1-53283088-A-G ZYG11B c.2044+787A>G - IntronicSNV - 13/13
1-97992465-A-G DPYD c.1525-10968T>C - IntronicSNV - 12/22
9-140624610-C-G EHMT1 c.823+1629C>G - IntronicSNV - 4/26
2-25457708-T-A DNMT3A c.2598-419A>T - IntronicSNV - 22/22
2-25457708-T-C DNMT3A c.2598-419A>G - IntronicSNV - 22/22
5-162941739-T-G MAT2B c.526+739T>G - IntronicSNV - 4/6
1-14125210-A-G PRDM2 c.5036+15884A>G - IntronicSNV - 8/9
1-14137908-T-C PRDM2 c.5037-5014T>C - IntronicSNV - 8/9
7-94940258-T-C PON1 c.497+505A>G - IntronicSNV - 5/8
18-662103-G-A TYMS c.280-43G>A - IntronicSNV - 2/6
1-97617789-C-T DPYD c.2622+40836G>A - IntronicSNV - 20/22
22-50959608-C-T NCAPH2 c.933+143C>T - IntronicSNV - 10/19
6-42958900-T-C PPP2R5D c.105+1474T>C - IntronicSNV - 2/15
1-14092902-G-A PRDM2 c.512-6671G>A - IntronicSNV - 6/9
2-74457718-A-C SLC4A5 c.2847+645T>G - IntronicSNV - 20/25
16-70323126-C-T AARS c.-22+198G>A - intron_variant - 1/20
1-97699757-T-C DPYD c.2442+651A>G - IntronicSNV - 19/22
17-18232096-G-A SHMT1 c.1420C>T p.Leu474Phe Missense 12/12 -
11-49173331-A-G FOLH1 c.1970+2067T>C - IntronicSNV - 17/18
1-98013638-A-G DPYD c.1524+1478T>C - IntronicSNV - 12/22
13-95829681-T-C ABCC4 c.1727+280A>G - IntronicSNV - 13/30
1-14105639-G-A PRDM2 c.1349G>A p.Ser450Asn Missense 8/10 -
4-100238413-G-A ADH1B c.259+790C>T - IntronicSNV - 3/8
1-236963867-G-A MTR c.35-2861G>A - IntronicSNV - 1/32
4-100263965-C-T ADH1C c.815G>A p.Arg272Gln Missense 6/9 -
14-64975679-T-A ZBTB1 c.-19+4015T>A - intron_variant - 1/1
17-76171330-C-T TK1 c.394-80G>A - IntronicSNV - 5/6
4-100236762-C-T ADH1B c.567+293G>A - IntronicSNV - 5/8
18-668258-C-T TYMS c.455-814C>T - IntronicSNV - 3/6
1-97583327-T-C DPYD c.2623-19139A>G - IntronicSNV - 20/22
8-63944344-G-A GGH c.225-1568C>T - IntronicSNV - 2/8
1-11860458-C-G MTHFR c.476-79G>C - IntronicSNV - 3/11
8-63944344-G-C GGH c.225-1568C>G - IntronicSNV - 2/8
1-98004512-G-A DPYD c.1524+10604C>T - IntronicSNV - 12/22
2-74452259-C-T SLC4A5 c.3139-137G>A - IntronicSNV - 23/25
14-64926097-T-C MTHFD1 c.*5-380T>C - intron_variant - 27/27
4-100257907-T-C ADH1C c.*2A>G - 3-UTRSNV 9/9 -
4-100257907-T-G ADH1C c.*2A>C - 3-UTRSNV 9/9 -
13-95697416-G-A ABCC4 c.3457-724C>T - IntronicSNV - 27/30
11-4143146-C-G RRM1 c.1038+151C>G - IntronicSNV - 10/18
13-95894120-G-C ABCC4 c.306+5109C>G - IntronicSNV - 3/30
2-25518470-C-G DNMT3A c.177+4538G>C - IntronicSNV - 3/22
21-44487891-G-A CBS c.316+728C>T - IntronicSNV - 4/16
1-14134154-G-T PRDM2 c.5037-8768G>T - IntronicSNV - 8/9
2-10264709-T-A RRM2 c.436-135T>A - IntronicSNV - 4/9
5-7887456-C-T MTRR c.1146+640C>T - IntronicSNV - 8/14
22-31013419-C-G TCN2 c.1043C>G p.Ser348Cys Missense 7/9 -
13-95906121-T-C ABCC4 c.75-6114A>G - IntronicSNV - 1/30
1-14083773-T-C PRDM2 c.511+7791T>C - IntronicSNV - 6/9
5-79930579-A-G DHFR c.370-768T>C - IntronicSNV - 4/5
8-63951312-A-G GGH c.16T>C p.Cys6Arg Missense 1/9 -
21-46957794-T-C SLC19A1 c.80A>G p.His27Arg Missense 2/6 -
2-10264709-T-C RRM2 c.436-135T>C - IntronicSNV - 4/9
5-79961643-A-G MSH3 c.579+461A>G - IntronicSNV - 3/23
13-95705453-T-C ABCC4 c.3367-15A>G - IntronicSNV - 26/30
22-50957462-C-T NCAPH2 c.731-157C>T - IntronicSNV - 8/19
14-64933355-C-T AKAP5 c.-264+1024C>T - intron_variant - 1/1
1-47833312-C-T CMPK1 c.172-829C>T - IntronicSNV - 1/5
17-76170735-C-T TK1 c.*105G>A - 3-UTRSNV 7/7 -
17-73120928-G-A ARMC7 c.236-3844G>A - IntronicSNV - 2/2
22-50957462-C-A NCAPH2 c.731-157C>A - IntronicSNV - 8/19
22-50957462-C-G NCAPH2 c.731-157C>G - IntronicSNV - 8/19
13-95844494-G-A ABCC4 c.1263+2596C>T - IntronicSNV - 9/30
13-95844494-G-C ABCC4 c.1263+2596C>G - IntronicSNV - 9/30
5-7885959-A-G MTRR c.1049A>G p.Lys350Arg Missense 7/15 -
17-49280693-C-T MBTD1 c.740-104G>A - IntronicSNV - 8/16
21-44485350-G-A CBS c.699C>T p.Tyr233Tyr Synonymous 8/17 -
8-105393687-G-A DPYS c.1444-145C>T - IntronicSNV - 8/9
13-95844494-G-T ABCC4 c.1263+2596C>A - IntronicSNV - 9/30
8-105399186-C-T DPYS c.1444-5644G>A - IntronicSNV - 8/9
1-98284940-T-A DPYD c.233+8730A>T - IntronicSNV - 3/22
21-44473425-G-A CBS c.*565C>T - 3-UTRSNV 17/17 -
9-140652537-G-T EHMT1 c.1501+74G>T - IntronicSNV - 9/26
8-105393876-T-C DPYS c.1444-334A>G - IntronicSNV - 8/9
4-103427476-A-C NFKB1 c.-8+4531A>C - intron_variant - 1/23
22-31016539-T-G TCN2 c.1107-2416T>G - IntronicSNV - 7/8
9-140692372-T-C EHMT1 c.2506-893T>C - IntronicSNV - 16/26
13-95929888-C-T ABCC4 c.74+23607G>A - IntronicSNV - 1/30
13-95795463-C-A ABCC4 c.2455+17980G>T - IntronicSNV - 19/30
13-95795463-C-G ABCC4 c.2455+17980G>C - IntronicSNV - 19/30
2-25492467-A-G DNMT3A c.639+5343T>C - IntronicSNV - 6/22
1-11850365-T-G MTHFR c.*372A>C - 3-UTRSNV 12/12 -
8-63937675-C-G GGH c.500-930G>C - IntronicSNV - 5/8
8-63937675-C-T GGH c.500-930G>A - IntronicSNV - 5/8
13-95750670-T-A ABCC4 c.2536-15126A>T - IntronicSNV - 20/30
1-98264578-G-T DPYD c.233+29092C>A - IntronicSNV - 3/22
1-11850365-T-A MTHFR c.*372A>T - 3-UTRSNV 12/12 -
4-103497785-G-A NFKB1 c.408-248G>A - IntronicSNV - 6/23
11-49174007-A-C FOLH1 c.1970+1391T>G - IntronicSNV - 17/18
14-64975679-T-G ZBTB1 c.-19+4015T>G - intron_variant - 1/1
2-25518470-C-A DNMT3A c.177+4538G>T - IntronicSNV - 3/22
12-109558197-T-C ACACB c.-10+3688T>C - intron_variant - 1/52
21-44491425-C-T CBS c.209+670G>A - IntronicSNV - 3/16
8-105427937-C-T DPYS c.1235+8538G>A - IntronicSNV - 7/9
13-95680590-T-C ABCC4 c.3870+6269A>G - IntronicSNV - 30/30
13-95929888-C-G ABCC4 c.74+23607G>C - IntronicSNV - 1/30
11-4106416-G-A STIM1 c.1475-1291G>A - IntronicSNV - 10/11
11-4106416-G-C STIM1 c.1475-1291G>C - IntronicSNV - 10/11
8-105393021-G-A DPYS c.*405C>T - IntronicSNV - 9/9
10-82032331-C-T MAT1A c.*1206G>A - 3-UTRSNV 9/9 -
9-140636333-G-A EHMT1 c.824-1490G>A - IntronicSNV - 4/26
9-140612997-G-T EHMT1 c.642+1363G>T - IntronicSNV - 3/26
11-4106416-G-T STIM1 c.1475-1291G>T - IntronicSNV - 10/11
10-82035923-C-A MAT1A c.768+209G>T - IntronicSNV - 6/8
8-63940776-T-A GGH c.276-952A>T - IntronicSNV - 3/8
1-11852300-C-T MTHFR c.1632+35G>A - IntronicSNV - 10/11
1-98284940-T-C DPYD c.233+8730A>G - IntronicSNV - 3/22
17-72862705-G-A FDXR c.271-15C>T - IntronicSNV - 3/11
14-64873599-A-C MTHFD1 c.127-4209A>C - IntronicSNV - 2/27
18-658064-G-C TYMS c.205+117G>C - IntronicSNV - 1/6
13-95731768-A-G ABCC4 c.2686+3626T>C - IntronicSNV - 21/30
13-95731768-A-T ABCC4 c.2686+3626T>A - IntronicSNV - 21/30
4-103527068-G-A NFKB1 c.1753-585G>A - IntronicSNV - 16/23
1-97600310-G-A DPYD c.2623-36122C>T - IntronicSNV - 20/22
12-109541171-T-C UNG c.623-67T>C - IntronicSNV - 5/6
13-95952437-T-C ABCC4 c.74+1058A>G - IntronicSNV - 1/30
13-95952437-T-A ABCC4 c.74+1058A>T - IntronicSNV - 1/30
5-78354446-G-A DMGDH c.277-2715C>T - IntronicSNV - 2/15
1-47825586-C-G CMPK1 c.172-8555C>G - IntronicSNV - 1/5
5-7897191-C-T MTRR c.1783C>T p.His595Tyr Missense 14/15 -
8-105423164-G-A DPYS c.1235+13311C>T - IntronicSNV - 7/9
17-76173022-G-C TK1 c.304-1323C>G - IntronicSNV - 4/6
5-78385845-T-G BHMT2 c.*1448T>G - 3-UTRSNV 8/8 -
9-130580093-T-C ENG c.1686+306A>G - IntronicSNV - 12/13
20-31409605-A-G MAPRE1 c.-4+1771A>G - intron_variant - 1/6
1-14141344-T-C PRDM2 c.5037-1578T>C - IntronicSNV - 8/9
5-7874424-T-G MTRR c.283+785T>G - IntronicSNV - 3/14
17-76173022-G-A TK1 c.304-1323C>T - IntronicSNV - 4/6
5-7878424-T-A MTRR c.769T>A p.Ser257Thr Missense 5/15 -
5-162933960-C-T MAT2B c.63+1205C>T - IntronicSNV - 1/6
4-103536901-G-A NFKB1 c.2750-690G>A - IntronicSNV - 23/23
5-162944309-C-T MAT2B c.721-258C>T - IntronicSNV - 5/6
3-124462808-C-T UMPS c.1320C>T p.Gly440Gly Synonymous 6/6 -
1-97691005-T-C DPYD c.2442+9403A>G - IntronicSNV - 19/22
4-100226324-C-A ADH1B c.*2673G>T - IntergenicSNV 9/9 -
14-64908845-G-A MTHFD1 c.1958G>A p.Arg653Gln Missense 20/28 -
1-97908878-T-G DPYD c.1905+6737A>C - IntronicSNV - 14/22
8-105426922-C-A DPYS c.1235+9553G>T - IntronicSNV - 7/9
13-95888277-T-C ABCC4 c.307-1189A>G - IntronicSNV - 3/30
1-237014635-G-A MTR c.1695+812G>A - IntronicSNV - 16/32
8-63951237-C-A GGH c.91G>T p.Ala31Ser Missense 1/9 -
1-98080308-G-A DPYD c.851-19586C>T - IntronicSNV - 8/22
21-46936958-G-A SLC19A1 c.1294-1892C>T - IntronicSNV - 5/5
1-11856847-G-A MTHFR c.587-391C>T - IntronicSNV - 4/11
13-95725359-T-A ABCC4 c.3018+99A>T - IntronicSNV - 24/30
13-95725359-T-C ABCC4 c.3018+99A>G - IntronicSNV - 24/30
5-79939471-T-C DHFR c.243-5643A>G - IntronicSNV - 3/5
7-94946084-A-C PON1 c.163T>G p.Leu55Val Missense 3/9 -
13-95750670-T-C ABCC4 c.2536-15126A>G - IntronicSNV - 20/30
1-47825586-C-A CMPK1 c.172-8555C>A - IntronicSNV - 1/5
14-64975679-T-C ZBTB1 c.-19+4015T>C - intron_variant - 1/1
11-4124276-G-C RRM1 c.108+965G>C - IntronicSNV - 2/18
11-49227620-A-G FOLH1 c.223T>C p.Tyr75His Missense 2/19 -
5-79966029-G-A MSH3 c.693G>A p.Pro231Pro Synonymous 4/24 -
2-25485735-C-T DNMT3A c.639+12075G>A - IntronicSNV - 6/22
5-79957717-G-A MSH3 c.359-3245G>A - IntronicSNV - 2/23
13-95734728-T-C ABCC4 c.2686+666A>G - IntronicSNV - 21/30
8-105456303-T-G DPYS c.793+173A>C - IntronicSNV - 4/9
1-14139683-A-C PRDM2 c.5037-3239A>C - IntronicSNV - 8/9
1-98290238-C-T DPYD c.233+3432G>A - IntronicSNV - 3/22
5-79992418-A-T MSH3 c.1340+17506A>T - IntronicSNV - 8/23
1-97721392-A-T DPYD c.2300-20842T>A - IntronicSNV - 18/22
1-14064010-G-A PRDM2 c.232-4490G>A - IntronicSNV - 4/9
1-14064010-G-C PRDM2 c.232-4490G>C - IntronicSNV - 4/9
5-79992418-A-C MSH3 c.1340+17506A>C - IntronicSNV - 8/23
22-50960682-C-T NCAPH2 c.1233+2C>T - IntronicSNV - 14/19
20-31427961-A-G MAPRE1 c.597+299A>G - IntronicSNV - 5/6
1-98064363-T-C DPYD c.851-3641A>G - IntronicSNV - 8/22
1-97890347-C-T DPYD c.1905+25268G>A - IntronicSNV - 14/22
13-95731058-G-A ABCC4 c.2687-3253C>T - IntronicSNV - 21/30
4-103533821-T-A NFKB1 c.2592+58T>A - IntronicSNV - 22/23
22-31013549-G-A TCN2 c.1106+67G>A - IntronicSNV - 7/8
8-63951237-C-T GGH c.91G>A p.Ala31Thr Missense 1/9 -
13-95897302-C-T ABCC4 c.306+1927G>A - IntronicSNV - 3/30
1-97721392-A-G DPYD c.2300-20842T>C - IntronicSNV - 18/22
1-47809955-C-T CMPK1 c.171+10167C>T - IntronicSNV - 1/5
1-11860458-C-T MTHFR c.476-79G>A - IntronicSNV - 3/11
1-98000861-A-G DPYD c.1524+14255T>C - IntronicSNV - 12/22
9-140601645-G-A EHMT1 c.22-3774G>A - IntronicSNV - 1/26
8-105440637-C-T DPYS c.951-288G>A - IntronicSNV - 5/9
1-98067896-C-T DPYD c.851-7174G>A - IntronicSNV - 8/22
1-97683997-T-C DPYD c.2442+16411A>G - IntronicSNV - 19/22
5-162939534-G-A MAT2B c.258+332G>A - IntronicSNV - 2/6
1-97595033-G-A DPYD c.2623-30845C>T - IntronicSNV - 20/22
13-95878842-G-A ABCC4 c.531+8022C>T - IntronicSNV - 4/30
1-97565233-T-C DPYD c.2623-1045A>G - IntronicSNV - 20/22
1-97685486-T-C DPYD c.2442+14922A>G - IntronicSNV - 19/22
1-11876662-G-A CLCN6 c.214-10G>A - IntronicSNV - 3/22
1-97915213-T-C DPYD c.1905+402A>G - IntronicSNV - 14/22
12-57644767-G-T STAC3 c.-2+9C>A - intron_variant - 1/11
13-95910726-C-A ABCC4 c.75-10719G>T - IntronicSNV - 1/30
18-683116-C-G ENOSF1 c.876+130G>C - IntronicSNV - 11/15
9-140710603-C-T EHMT1 c.3374+89C>T - IntronicSNV - 23/26
12-109525735-T-G USP30 c.*1999T>G - 3-UTRSNV 13/13 -
1-97947883-C-T DPYD c.1741-32104G>A - IntronicSNV - 13/22
13-95845973-G-T ABCC4 c.1263+1117C>A - IntronicSNV - 9/30
1-97812612-A-C DPYD c.2058+26505T>G - IntronicSNV - 16/22
12-57616061-G-A NXPH4 c.58-2600G>A - IntronicSNV - 1/1
22-31019044-G-C TCN2 c.1196G>C p.Arg399Pro Missense 8/9 -
1-98322379-C-T DPYD c.150+26441G>A - IntronicSNV - 2/22
4-103536261-C-T NFKB1 c.2750-1330C>T - IntronicSNV - 23/23
1-97841879-A-G DPYD c.1975-2679T>C - IntronicSNV - 15/22
22-31008745-A-G TCN2 c.258-115A>G - IntronicSNV - 2/8
22-31019044-G-A TCN2 c.1196G>A p.Arg399Gln Missense 8/9 -
1-97594060-G-T DPYD c.2623-29872C>A - IntronicSNV - 20/22
22-31011610-G-C TCN2 c.776G>C p.Arg259Pro Missense 6/9 -
22-31011610-G-A TCN2 c.776G>A p.Arg259His Missense 6/9 -
1-97610026-G-T DPYD c.2623-45838C>A - IntronicSNV - 20/22
1-98026801-A-G DPYD c.1340-11501T>C - IntronicSNV - 11/22
8-63934988-G-A GGH c.697+1478C>T - IntronicSNV - 7/8
20-31361861-T-C DNMT3B c.1-6269T>C - IntronicSNV - 1/22
2-25486770-T-C DNMT3A c.639+11040A>G - IntronicSNV - 6/22
19-10273372-T-C DNMT1 c.931A>G p.Ile311Val Missense 12/40 -
19-10273372-T-G DNMT1 c.931A>C p.Ile311Leu Missense 12/40 -
18-661005-A-G TYMS c.280-1141A>G - IntronicSNV - 2/6
4-103496437-C-T NFKB1 c.408-1596C>T - IntronicSNV - 6/23
8-105467983-T-A DPYS c.265-4351A>T - IntronicSNV - 1/9
17-72862809-T-C FDXR c.270+97A>G - IntronicSNV - 3/11
1-97649209-G-T DPYD c.2622+9416C>A - IntronicSNV - 20/22
12-57614484-C-T NXPH4 c.57+3675C>T - IntronicSNV - 1/1
13-95856286-C-T ABCC4 c.1161+2500G>A - IntronicSNV - 8/30
10-82042624-C-T MAT1A c.292+1048G>A - IntronicSNV - 3/8
13-95714367-G-A ABCC4 c.3366+591C>T - IntronicSNV - 26/30
13-95848667-T-C ABCC4 c.1162-1476A>G - IntronicSNV - 8/30
1-97761972-T-C DPYD c.2299+8843A>G - IntronicSNV - 18/22
21-46926093-G-A COL18A1 c.3756+213G>A - IntronicSNV - 36/40
1-97738860-C-T DPYD c.2299+31955G>A - IntronicSNV - 18/22
17-72876818-G-A FADS6 c.726+380C>T - IntronicSNV - 4/5
1-47841627-A-C CMPK1 c.645+662A>C - IntronicSNV - 5/5
5-7889304-C-T MTRR c.1243C>T p.Arg415Cys Missense 9/15 -
12-57676255-T-A R3HDM2 c.1129+1352A>T - IntronicSNV - 13/23
6-42903763-C-A CNPY3 c.372+355C>A - IntronicSNV - 3/5
6-42903763-C-G CNPY3 c.372+355C>G - IntronicSNV - 3/5
13-95851687-C-G ABCC4 c.1162-4496G>C - IntronicSNV - 8/30
12-109542392-T-C UNG c.801+976T>C - IntronicSNV - 6/6
13-95863008-C-A ABCC4 c.559G>T p.Gly187Trp Missense 5/31 -
1-14117876-G-C PRDM2 c.5036+8550G>C - IntronicSNV - 8/9
6-44191920-A-C SLC29A1 c.-159+542A>C - intron_variant - 1/13
12-109558638-T-C ACACB c.-10+4129T>C - intron_variant - 1/52
17-49244747-G-C NME1-NME2 c.471+430G>C - IntronicSNV - 5/7
17-73124692-C-T ARMC7 c.236-80C>T - IntronicSNV - 2/2
6-42903763-C-T CNPY3 c.372+355C>T - IntronicSNV - 3/5
5-7900712-G-A MTRR c.*541G>A - 3-UTRSNV 15/15 -
14-64909151-G-A MTHFD1 c.2136+31G>A - IntronicSNV - 21/27
4-103531112-A-G NFKB1 c.2228-620A>G - IntronicSNV - 19/23
13-95713715-G-A ABCC4 c.3366+1243C>T - IntronicSNV - 26/30
13-95713715-G-T ABCC4 c.3366+1243C>A - IntronicSNV - 26/30
4-100263584-T-G ADH1C c.828+368A>C - IntronicSNV - 6/8
1-98264578-G-A DPYD c.233+29092C>T - IntronicSNV - 3/22
13-95764061-C-T ABCC4 c.2535+4115G>A - IntronicSNV - 20/30
12-109547060-A-G UNG c.802-574A>G - IntronicSNV - 6/6
13-95862409-A-T ABCC4 c.621+537T>A - IntronicSNV - 5/30
6-44194345-G-C SLC29A1 c.-52+441G>C - intron_variant - 2/13
13-95811599-A-G ABCC4 c.2455+1844T>C - IntronicSNV - 19/30
1-236987185-G-A MTR c.765-234G>A - IntronicSNV - 8/32
13-95863465-C-T ABCC4 c.532-430G>A - IntronicSNV - 4/30
13-95899643-C-T ABCC4 c.185+254G>A - IntronicSNV - 2/30
4-100273173-C-G ADH1C c.18+642G>C - IntronicSNV - 1/8
1-237006914-A-G MTR c.1515+5015A>G - IntronicSNV - 15/32
8-105426922-C-T DPYS c.1235+9553G>A - IntronicSNV - 7/9
4-100273173-C-T ADH1C c.18+642G>A - IntronicSNV - 1/8
5-7891506-C-G MTRR c.1349C>G p.Pro450Arg Missense 10/15 -
2-74369151-A-T BOLA3 c.258+248T>A - IntronicSNV - 3/3
1-14117425-T-G PRDM2 c.5036+8099T>G - IntronicSNV - 8/9
1-98080308-G-T DPYD c.851-19586C>A - IntronicSNV - 8/22
1-97600039-G-T DPYD c.2623-35851C>A - IntronicSNV - 20/22
6-31843924-C-T SLC44A4 c.90-18G>A - IntronicSNV - 2/19
20-31396152-C-T DNMT3B c.*443C>T - 3-UTRSNV 23/23 -
1-97968757-T-A DPYD c.1740+12525A>T - IntronicSNV - 13/22
1-97600310-G-C DPYD c.2623-36122C>G - IntronicSNV - 20/22
1-97660692-A-G DPYD c.2443-1888T>C - IntronicSNV - 19/22
20-31364166-G-A DNMT3B c.1-3964G>A - IntronicSNV - 1/22
5-7877831-C-T MTRR c.402-226C>T - IntronicSNV - 4/14
8-105445909-T-A DPYS c.794-3980A>T - IntronicSNV - 4/9
5-78425188-C-T BHMT c.1037+1382C>T - IntronicSNV - 7/7
22-50955538-A-G NCAPH2 c.211-318A>G - IntronicSNV - 2/19
5-162941739-T-C MAT2B c.526+739T>C - IntronicSNV - 4/6
20-31360383-C-T DNMT3B c.1-7747C>T - IntronicSNV - 1/22
22-31018975-T-C TCN2 c.1127T>C p.Leu376Ser Missense 8/9 -
13-95752478-C-G ABCC4 c.2535+15698G>C - IntronicSNV - 20/30
1-97654795-C-T DPYD c.2622+3830G>A - IntronicSNV - 20/22
1-97585937-A-G DPYD c.2623-21749T>C - IntronicSNV - 20/22
17-76173423-T-C TK1 c.304-1724A>G - IntronicSNV - 4/6
13-95945118-A-T ABCC4 c.74+8377T>A - IntronicSNV - 1/30
17-49239431-C-T NME1 c.*225C>T - 3-UTRSNV 5/5 -
13-95876543-T-G ABCC4 c.531+10321A>C - IntronicSNV - 4/30
18-676008-G-C ENOSF1 c.1149-606C>G - IntronicSNV - 14/15
13-95693367-G-A ABCC4 c.3735+2569C>T - IntronicSNV - 29/30
1-98348885-G-A DPYD c.85C>T p.Arg29Cys Missense 2/23 -
17-18248021-T-C SHMT1 c.519+2789A>G - IntronicSNV - 5/11
1-97902790-A-T DPYD c.1905+12825T>A - IntronicSNV - 14/22
13-95765954-T-C ABCC4 c.2535+2222A>G - IntronicSNV - 20/30
13-95765954-T-A ABCC4 c.2535+2222A>T - IntronicSNV - 20/30
10-82043576-G-A MAT1A c.292+96C>T - IntronicSNV - 3/8
1-97645979-T-C DPYD c.2622+12646A>G - IntronicSNV - 20/22
6-42928758-T-G GNMT c.206+47T>G - IntronicSNV - 1/5
1-97594060-G-C DPYD c.2623-29872C>G - IntronicSNV - 20/22
2-74460904-A-G SLC4A5 c.2434-214T>C - IntronicSNV - 17/25
1-97600039-G-A DPYD c.2623-35851C>T - IntronicSNV - 20/22
7-94946084-A-G PON1 c.163T>C p.Leu55Leu Synonymous 3/9 -
7-94946084-A-T PON1 c.163T>A p.Leu55Met Missense 3/9 -
11-49192351-G-C FOLH1 c.1308+396C>G - IntronicSNV - 11/18
2-74448655-T-C SLC4A5 c.3380-27A>G - IntronicSNV - 25/25
11-49192351-G-A FOLH1 c.1308+396C>T - IntronicSNV - 11/18
2-10271196-A-G RRM2 c.*1683A>G - 3-UTRSNV 10/10 -
1-97747664-A-C DPYD c.2299+23151T>G - IntronicSNV - 18/22
1-97747664-A-G DPYD c.2299+23151T>C - IntronicSNV - 18/22
21-46957916-G-C SLC19A1 c.1-43C>G - 5-UTRSNV 2/6 -
21-46957916-G-A SLC19A1 c.1-43C>T - 5-UTRSNV 2/6 -
17-49239518-G-A NME1-NME2 c.341+885G>A - IntronicSNV - 4/7
7-94936129-A-G PON1 c.699-451T>C - IntronicSNV - 6/8
17-76160881-C-A C17orf99 c.640+436C>A - IntronicSNV - 4/4
17-76160881-C-T C17orf99 c.640+436C>T - IntronicSNV - 4/4
2-10268798-A-G RRM2 c.799-177A>G - IntronicSNV - 7/9
1-97979726-G-A DPYD c.1740+1556C>T - IntronicSNV - 13/22
13-95908507-A-G ABCC4 c.75-8500T>C - IntronicSNV - 1/30
5-78359271-G-A DMGDH c.276+165C>T - IntronicSNV - 2/15
5-7900598-T-C MTRR c.*427T>C - 3-UTRSNV 15/15 -
5-7870973-A-G MTRR c.66A>G p.Ile22Met Missense 2/15 -
11-49221885-T-A FOLH1 c.333A>T p.Ala111Ala Synonymous 3/19 -
5-79985702-T-G MSH3 c.1340+10790T>G - IntronicSNV - 8/23
1-97653070-C-T DPYD c.2622+5555G>A - IntronicSNV - 20/22
21-46951556-A-G SLC19A1 c.696T>C p.Pro232Pro Synonymous 3/6 -
10-82048173-G-C MAT1A c.91+916C>G - IntronicSNV - 1/8
9-140603073-G-T EHMT1 c.22-2346G>T - IntronicSNV - 1/26
19-10273372-T-A DNMT1 c.931A>T p.Ile311Phe Missense 12/40 -
1-97569544-T-C DPYD c.2623-5356A>G - IntronicSNV - 20/22
5-79930579-A-C DHFR c.370-768T>G - IntronicSNV - 4/5
13-95819942-A-G ABCC4 c.1825-1321T>C - IntronicSNV - 14/30
13-95883671-C-T ABCC4 c.531+3193G>A - IntronicSNV - 4/30
17-49187703-C-A SPAG9 c.303+10012G>T - IntronicSNV - 1/28
17-49187703-C-T SPAG9 c.303+10012G>A - IntronicSNV - 1/28
21-46957916-G-T SLC19A1 c.1-43C>A - 5-UTRSNV 2/6 -
13-95819942-A-T ABCC4 c.1825-1321T>A - IntronicSNV - 14/30
13-95932240-T-C ABCC4 c.74+21255A>G - IntronicSNV - 1/30
1-97896865-T-C DPYD c.1905+18750A>G - IntronicSNV - 14/22
11-4110148-C-T STIM1 c.1542-2364C>T - IntronicSNV - 11/11
13-95848246-T-A ABCC4 c.1162-1055A>T - IntronicSNV - 8/30
13-95848246-T-G ABCC4 c.1162-1055A>C - IntronicSNV - 8/30
5-79985702-T-C MSH3 c.1340+10790T>C - IntronicSNV - 8/23
11-4110148-C-G STIM1 c.1542-2364C>G - IntronicSNV - 11/11
16-70303580-G-A AARS c.903C>T p.His301His Synonymous 7/21 -
13-95672950-A-G ABCC4 c.*879T>C - 3-UTRSNV 31/31 -
13-95858704-G-T ABCC4 c.1161+82C>A - IntronicSNV - 8/30
21-44487111-C-A CBS c.317-624G>T - IntronicSNV - 4/16
8-63983203-T-C TTPA c.358+2291A>G - IntronicSNV - 2/4
13-95816525-A-G ABCC4 c.2175+107T>C - IntronicSNV - 16/30
13-95858704-G-A ABCC4 c.1161+82C>T - IntronicSNV - 8/30
13-95858704-G-C ABCC4 c.1161+82C>G - IntronicSNV - 8/30
18-676789-A-T ENOSF1 c.1148+556T>A - IntronicSNV - 14/15
11-49192667-C-T FOLH1 c.1308+80G>A - IntronicSNV - 11/18
17-18240746-C-G SHMT1 c.815-1757G>C - IntronicSNV - 7/11
4-103496437-C-A NFKB1 c.408-1596C>A - IntronicSNV - 6/23
1-97747389-T-C DPYD c.2299+23426A>G - IntronicSNV - 18/22
17-49233447-C-G NME1 c.126+306C>G - IntronicSNV - 2/4
12-57591226-T-C LRP1 c.9162+59T>C - IntronicSNV - 57/88
5-78369901-A-G BHMT2 c.34-3402A>G - IntronicSNV - 1/7
20-31430770-A-G MAPRE1 c.597+3108A>G - IntronicSNV - 5/6
12-57591226-T-A LRP1 c.9162+59T>A - IntronicSNV - 57/88
13-95893787-C-A ABCC4 c.306+5442G>T - IntronicSNV - 3/30
13-95893787-C-T ABCC4 c.306+5442G>A - IntronicSNV - 3/30
13-95680385-C-T ABCC4 c.3871-6449G>A - IntronicSNV - 30/30
2-74369151-A-G BOLA3 c.258+248T>C - IntronicSNV - 3/3
13-95793454-T-A ABCC4 c.2455+19989A>T - IntronicSNV - 19/30
20-31427342-C-T MAPRE1 c.476-199C>T - IntronicSNV - 4/6
4-103427476-A-G NFKB1 c.-8+4531A>G - intron_variant - 1/23
1-98007575-T-A DPYD c.1524+7541A>T - IntronicSNV - 12/22
22-31023191-A-C TCN2 c.*683A>C - IntergenicSNV 9/9 -
22-31013419-C-T TCN2 c.1043C>T p.Ser348Phe Missense 7/9 -
22-31023191-A-T TCN2 c.*683A>T - IntergenicSNV 9/9 -
22-31023191-A-G TCN2 c.*683A>G - IntergenicSNV 9/9 -
5-7898094-A-G MTRR c.1952+734A>G - IntronicSNV - 14/14
12-109547060-A-T UNG c.802-574A>T - IntronicSNV - 6/6
5-78425188-C-A BHMT c.1037+1382C>A - IntronicSNV - 7/7
7-94937893-G-A PON1 c.498-370C>T - IntronicSNV - 5/8
1-11852300-C-G MTHFR c.1632+35G>C - IntronicSNV - 10/11
5-7897319-G-A MTRR c.1911G>A p.Ala637Ala Synonymous 14/15 -
8-105406445-C-T DPYS c.1236-1226G>A - IntronicSNV - 7/9
17-72862705-G-C FDXR c.271-15C>G - IntronicSNV - 3/11
17-18247280-C-A SHMT1 c.520-3153G>T - IntronicSNV - 5/11
20-31375311-A-G DNMT3B c.654+54A>G - IntronicSNV - 6/22
8-105474935-T-C DPYS c.264+3950A>G - IntronicSNV - 1/9
8-105474935-T-G DPYS c.264+3950A>C - IntronicSNV - 1/9
17-18247280-C-T SHMT1 c.520-3153G>A - IntronicSNV - 5/11
18-666371-G-A TYMS c.455-2701G>A - IntronicSNV - 3/6
8-105463690-A-G DPYS c.265-58T>C - IntronicSNV - 1/9
8-105463690-A-T DPYS c.265-58T>A - IntronicSNV - 1/9
11-49203487-A-G FOLH1 c.920+1214T>C - IntronicSNV - 7/18
3-124458816-C-G UMPS c.983-55C>G - IntronicSNV - 3/5
18-659236-C-T TYMS c.206-405C>T - IntronicSNV - 1/6
3-124458816-C-T UMPS c.983-55C>T - IntronicSNV - 3/5
1-97973252-C-A DPYD c.1740+8030G>T - IntronicSNV - 13/22
1-97572669-C-T DPYD c.2623-8481G>A - IntronicSNV - 20/22
4-103427476-A-T NFKB1 c.-8+4531A>T - intron_variant - 1/23
4-103537442-C-T NFKB1 c.2750-149C>T - IntronicSNV - 23/23
13-95709072-T-C ABCC4 c.3367-3634A>G - IntronicSNV - 26/30
5-7874424-T-C MTRR c.283+785T>C - IntronicSNV - 3/14
13-95927856-C-G ABCC4 c.74+25639G>C - IntronicSNV - 1/30
17-49269366-A-C MBTD1 c.1768+198T>G - IntronicSNV - 16/16
1-97717024-G-A DPYD c.2300-16474C>T - IntronicSNV - 18/22
17-76180515-G-C TK1 c.209+621C>G - IntronicSNV - 3/6
1-98105438-A-C DPYD c.850+39213T>G - IntronicSNV - 8/22
22-31006860-A-G TCN2 c.67A>G p.Ile23Val Missense 2/9 -
8-105412148-A-C DPYS c.1236-6929T>G - IntronicSNV - 7/9
1-237048500-A-G MTR c.2756A>G p.Asp919Gly Missense 26/33 -
2-74444431-A-T MTHFD2 c.*3062A>T - IntergenicSNV 8/8 -
5-7862381-T-C FASTKD3 c.1699+555A>G - IntronicSNV - 4/6
2-74448655-T-A SLC4A5 c.3380-27A>T - IntronicSNV - 25/25
11-49202187-G-A FOLH1 c.920+2514C>T - IntronicSNV - 7/18
11-71929526-T-A FOLR2 c.1-103T>A - IntronicSNV - 1/4
13-95893787-C-G ABCC4 c.306+5442G>C - IntronicSNV - 3/30
4-103497875-A-T NFKB1 c.408-158A>T - IntronicSNV - 6/23
8-105472400-A-T DPYS c.264+6485T>A - IntronicSNV - 1/9
1-14033343-A-G PRDM2 c.-66+1203A>G - intron_variant - 1/9
8-63938764-G-A GGH c.452C>T p.Thr151Ile Missense 5/9 -