PMID: 29043008

Ancestors' dietary patterns and environments could drive positive selection in genes involved in micronutrient metabolism-the case of cofactor transporters.

Genes & nutrition
S Parolo, S Lacroix, J Kaput, MP Scott-Boyer
2017

492 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-73702832-G-A KCNB2 c.580-145338G>A - IntronicSNV - 2/2
8-15562672-A-G TUSC3 c.799-25503A>G - IntronicSNV - 6/10
10-16948801-A-C CUBN c.7706-393T>G - IntronicSNV - 49/66
11-111428095-C-T LAYN c.659-171C>T - IntronicSNV - 5/6
8-15622519-T-C TUSC3 c.*854T>C - 3_prime_UTR_variant 11/11 -
2-163241287-C-G KCNH7 c.2873G>C p.Gly958Ala Missense 13/16 -
8-15488656-C-T TUSC3 c.308+7898C>T - IntronicSNV - 2/10
8-15488656-C-A TUSC3 c.308+7898C>A - IntronicSNV - 2/10
2-109562495-C-T EDAR c.1-15025G>A - IntronicSNV - 1/11
3-54404288-G-C CACNA2D3 c.322-16454G>C - IntronicSNV - 3/37
2-109562495-C-A EDAR c.1-15025G>T - IntronicSNV - 1/11
14-90604277-G-T KCNK13 c.335-46178G>T - IntronicSNV - 1/1
2-40473425-A-G SLC8A1 c.1809-67792T>C - IntronicSNV - 2/10
2-40341660-C-T SLC8A1 c.*733G>A - 3-UTRSNV 11/11 -
2-40394140-G-T SLC8A1 c.2039-2016C>A - IntronicSNV - 7/10
2-40500993-T-A SLC8A1 c.1809-95360A>T - IntronicSNV - 2/10
10-17061681-A-T CUBN c.4168+151T>A - IntronicSNV - 28/66
8-15532585-T-C TUSC3 c.798+1240T>C - IntronicSNV - 6/10
8-73658605-T-C KCNB2 c.579+178057T>C - IntronicSNV - 2/2
20-19502878-A-G SLC24A3 c.348+6670A>G - IntronicSNV - 3/16
10-79237895-G-A KCNMA1 c.379-74114C>T - IntronicSNV - 1/26
15-49540216-A-G GALK2 c.471+8652A>G - IntronicSNV - 5/9
9-73250037-C-T TRPM3 c.1173+90G>A - IntronicSNV - 12/24
8-15425610-T-G TUSC3 c.138+27533T>G - IntronicSNV - 1/10
9-73250037-C-G TRPM3 c.1173+90G>C - IntronicSNV - 12/24
8-15425610-T-C TUSC3 c.138+27533T>C - IntronicSNV - 1/10
2-40384733-C-G SLC8A1 c.2269+3172G>C - IntronicSNV - 9/10
2-40384733-C-T SLC8A1 c.2269+3172G>A - IntronicSNV - 9/10
8-15608896-A-G TUSC3 c.1028+2922A>G - IntronicSNV - 9/10
8-15469237-G-A TUSC3 c.139-11352G>A - IntronicSNV - 1/10
8-73687200-A-C KCNB2 c.580-160970A>C - IntronicSNV - 2/2
12-51386184-A-C SLC11A2 c.1198-62T>G - IntronicSNV - 12/15
8-15581392-C-T TUSC3 c.799-6783C>T - IntronicSNV - 6/10
18-25564262-C-A CDH2 c.2209+702G>T - IntronicSNV - 13/15
2-40494866-G-A SLC8A1 c.1809-89233C>T - IntronicSNV - 2/10
10-17008422-C-T CUBN c.4696-11875G>A - IntronicSNV - 31/66
2-40500993-T-C SLC8A1 c.1809-95360A>G - IntronicSNV - 2/10
20-34509678-T-G PHF20 c.2004+4094T>G - IntronicSNV - 13/17
10-16931465-A-C CUBN c.8756-900T>G - IntronicSNV - 55/66
9-73314011-A-G TRPM3 c.814-17517T>C - IntronicSNV - 8/24
8-15599587-A-G TUSC3 c.863-1460A>G - IntronicSNV - 7/10
17-70884262-T-G SLC39A11 c.452-38319A>C - IntronicSNV - 5/9
10-17008901-C-T CUBN c.4696-12354G>A - IntronicSNV - 31/66
8-15420126-A-C TUSC3 c.138+22049A>C - IntronicSNV - 1/10
8-15420126-A-G TUSC3 c.138+22049A>G - IntronicSNV - 1/10
10-17035822-A-C CUBN c.4169-3308T>G - IntronicSNV - 28/66
2-40387463-C-G SLC8A1 c.2269+442G>C - IntronicSNV - 9/10
2-40501351-T-C SLC8A1 c.1809-95718A>G - IntronicSNV - 2/10
5-143605161-C-G KCTD16 c.832+18052C>G - IntronicSNV - 3/3
10-17005990-T-C CUBN c.4696-9443A>G - IntronicSNV - 31/66
3-54811259-G-A CACNA2D3 c.1380+12881G>A - IntronicSNV - 13/37
10-16928435-C-T CUBN c.8905+1981G>A - IntronicSNV - 56/66
12-113862943-T-A SDSL c.-143-1992T>A - intron_variant - 1/8
12-113862943-T-C SDSL c.-143-1992T>C - intron_variant - 1/8
7-119917158-G-T KCND2 c.1115+1357G>T - IntronicSNV - 1/5
10-17013192-C-A CUBN c.4695+11291G>T - IntronicSNV - 31/66
10-17013192-C-G CUBN c.4695+11291G>C - IntronicSNV - 31/66
19-49712908-C-T TRPM4 c.3132-558C>T - IntronicSNV - 20/24
20-19511396-G-A SLC24A3 c.348+15188G>A - IntronicSNV - 3/16
8-73583385-C-A KCNB2 c.579+102837C>A - IntronicSNV - 2/2
3-54748368-T-C CACNA2D3 c.1168-38258T>C - IntronicSNV - 11/37
1-215314010-C-A KCNK2 c.430+15917C>A - IntronicSNV - 3/6
8-73579879-T-C KCNB2 c.579+99331T>C - IntronicSNV - 2/2
8-15545152-C-G TUSC3 c.798+13807C>G - IntronicSNV - 6/10
3-97644652-T-C CRYBG3 c.8242-7886T>C - IntronicSNV - 17/21
15-64726264-T-A TRIP4 c.1575+8434T>A - IntronicSNV - 11/12
12-133266175-C-T PXMP2 c.123-674C>T - IntronicSNV - 1/4
14-90601397-T-C KCNK13 c.335-49058T>C - IntronicSNV - 1/1
1-25144573-T-C CLIC4 c.308+3863T>C - IntronicSNV - 3/5
8-15527984-A-G TUSC3 c.709-3272A>G - IntronicSNV - 5/10
8-15561260-A-G TUSC3 c.799-26915A>G - IntronicSNV - 6/10
8-15565126-A-T TUSC3 c.799-23049A>T - IntronicSNV - 6/10
3-54418601-A-G CACNA2D3 c.322-2141A>G - IntronicSNV - 3/37
12-26726859-G-A ITPR2 c.4630+4787C>T - IntronicSNV - 34/56
3-54404288-G-A CACNA2D3 c.322-16454G>A - IntronicSNV - 3/37
9-73311986-G-A TRPM3 c.814-15492C>T - IntronicSNV - 8/24
8-15424898-A-G TUSC3 c.138+26821A>G - IntronicSNV - 1/10
20-19530835-T-C SLC24A3 c.349-29809T>C - IntronicSNV - 3/16
8-15480039-A-G TUSC3 c.139-550A>G - IntronicSNV - 1/10
8-15565126-A-G TUSC3 c.799-23049A>G - IntronicSNV - 6/10
2-40387489-A-G SLC8A1 c.2269+416T>C - IntronicSNV - 9/10
8-15545152-C-T TUSC3 c.798+13807C>T - IntronicSNV - 6/10
8-15407216-G-A TUSC3 c.138+9139G>A - IntronicSNV - 1/10
2-40475441-G-T SLC8A1 c.1809-69808C>A - IntronicSNV - 2/10
8-15403298-T-C TUSC3 c.138+5221T>C - IntronicSNV - 1/10
10-16973346-C-T CUBN c.6124+1740G>A - IntronicSNV - 40/66
8-15612603-C-T TUSC3 c.1029-2697C>T - IntronicSNV - 9/10
21-39037636-A-G KCNJ6 c.947-39850T>C - IntronicSNV - 3/3
2-40468418-T-G SLC8A1 c.1809-62785A>C - IntronicSNV - 2/10
21-39037636-A-C KCNJ6 c.947-39850T>G - IntronicSNV - 3/3
20-19547213-C-T SLC24A3 c.349-13431C>T - IntronicSNV - 3/16
10-17024503-G-A CUBN c.4675C>T p.Pro1559Ser Missense 31/67 -
15-33758888-G-A RYR3 c.52-6732G>A - IntronicSNV - 1/103
9-73313963-C-T TRPM3 c.814-17469G>A - IntronicSNV - 8/24
20-19547213-C-G SLC24A3 c.349-13431C>G - IntronicSNV - 3/16
10-17024503-G-T CUBN c.4675C>A p.Pro1559Thr Missense 31/67 -
2-40373196-T-C SLC8A1 c.2270-6380A>G - IntronicSNV - 9/10
2-40454348-A-T SLC8A1 c.1809-48715T>A - IntronicSNV - 2/10
3-54696159-A-G CACNA2D3 c.1167+19891A>G - IntronicSNV - 11/37
2-40456843-A-G SLC8A1 c.1809-51210T>C - IntronicSNV - 2/10
9-73309097-T-C TRPM3 c.814-12603A>G - IntronicSNV - 8/24
20-19524558-T-C SLC24A3 c.348+28350T>C - IntronicSNV - 3/16
10-16994047-C-A CUBN c.4969+228G>T - IntronicSNV - 33/66
8-15525267-A-G TUSC3 c.708+5462A>G - IntronicSNV - 5/10
8-15525267-A-T TUSC3 c.708+5462A>T - IntronicSNV - 5/10
2-40454348-A-G SLC8A1 c.1809-48715T>C - IntronicSNV - 2/10
3-54806321-G-A CACNA2D3 c.1380+7943G>A - IntronicSNV - 13/37
10-17047781-G-A CUBN c.4168+14051C>T - IntronicSNV - 28/66
10-16939840-G-A CUBN c.8598+1155C>T - IntronicSNV - 54/66
3-19428314-C-T KCNH8 c.812-3659C>T - IntronicSNV - 5/15
1-32858280-C-T BSDC1 c.72+1401G>A - IntronicSNV - 2/10
21-33056859-G-A SCAF4 c.2488+503C>T - IntronicSNV - 19/19
8-15488238-T-C TUSC3 c.308+7480T>C - IntronicSNV - 2/10
8-15492045-G-A TUSC3 c.308+11287G>A - IntronicSNV - 2/10
10-17000617-A-G CUBN c.4696-4070T>C - IntronicSNV - 31/66
3-54676642-T-C CACNA2D3 c.1167+374T>C - IntronicSNV - 11/37
2-40349094-A-G SLC8A1 c.2546-6325T>C - IntronicSNV - 10/10
8-15427448-G-A TUSC3 c.138+29371G>A - IntronicSNV - 1/10
21-39085907-C-T KCNJ6 c.946+607G>A - IntronicSNV - 3/3
15-30036085-A-G TJP1 c.1011-1100T>C - IntronicSNV - 8/27
21-39075749-G-T KCNJ6 c.946+10765C>A - IntronicSNV - 3/3
10-17041473-T-C CUBN c.4169-8959A>G - IntronicSNV - 28/66
18-25564262-C-T CDH2 c.2209+702G>A - IntronicSNV - 13/15
21-39008629-C-T KCNJ6 c.947-10843G>A - IntronicSNV - 3/3
20-19527223-T-G SLC24A3 c.348+31015T>G - IntronicSNV - 3/16
5-169400394-G-T DOCK2 c.2800-9678G>T - IntronicSNV - 27/51
9-73306389-G-A TRPM3 c.814-9895C>T - IntronicSNV - 8/24
20-19521674-C-A SLC24A3 c.348+25466C>A - IntronicSNV - 3/16
8-15508200-T-C TUSC3 c.309-6T>C - IntronicSNV - 2/10
20-19527223-T-A SLC24A3 c.348+31015T>A - IntronicSNV - 3/16
2-40403803-T-A SLC8A1 c.1916-1382A>T - IntronicSNV - 3/10
3-66312079-G-A SLC25A26 c.301-396G>A - intron_variant - 4/10
7-81847651-G-A CACNA2D1 c.295-47726C>T - IntronicSNV - 3/38
7-81847651-G-T CACNA2D1 c.295-47726C>A - IntronicSNV - 3/38
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
20-34743922-T-C EPB41L1 c.-15+1104T>C - intron_variant - 1/21
15-33742178-C-T RYR3 c.52-23442C>T - IntronicSNV - 1/103
2-40357997-C-T SLC8A1 c.2545+8544G>A - IntronicSNV - 10/10
9-73281358-G-A TRPM3 c.886+15064C>T - IntronicSNV - 9/24
8-73623643-C-T KCNB2 c.579+143095C>T - IntronicSNV - 2/2
7-81877993-C-T CACNA2D1 c.295-78068G>A - IntronicSNV - 3/38
20-19278320-A-G SLC24A3 c.271+16589A>G - IntronicSNV - 2/16
2-40378186-C-A SLC8A1 c.2269+9719G>T - IntronicSNV - 9/10
8-73634872-T-A KCNB2 c.579+154324T>A - IntronicSNV - 2/2
20-19548324-T-C SLC24A3 c.349-12320T>C - IntronicSNV - 3/16
19-13573342-T-C CACNA1A c.294-7316A>G - IntronicSNV - 1/47
20-19469150-T-G SLC24A3 c.272-26982T>G - IntronicSNV - 2/16
14-63402456-T-C KCNH5 c.1369+14395A>G - IntronicSNV - 7/10
20-19536127-T-C SLC24A3 c.349-24517T>C - IntronicSNV - 3/16
14-90604277-G-A KCNK13 c.335-46178G>A - IntronicSNV - 1/1
2-40473347-T-G SLC8A1 c.1809-67714A>C - IntronicSNV - 2/10
2-40473347-T-A SLC8A1 c.1809-67714A>T - IntronicSNV - 2/10
2-40503734-A-C SLC8A1 c.1809-98101T>G - IntronicSNV - 2/10
2-40377680-A-G SLC8A1 c.2269+10225T>C - IntronicSNV - 9/10
2-40377680-A-T SLC8A1 c.2269+10225T>A - IntronicSNV - 9/10
7-81956740-A-T CACNA2D1 c.294+7711T>A - IntronicSNV - 3/38
9-73391084-C-T TRPM3 c.689+7937G>A - IntronicSNV - 7/24
10-17012098-C-T CUBN c.4695+12385G>A - IntronicSNV - 31/66
10-17004709-G-A CUBN c.4696-8162C>T - IntronicSNV - 31/66
20-19459328-A-T SLC24A3 c.272-36804A>T - IntronicSNV - 2/16
2-234852692-G-A TRPM8 c.699+1300G>A - IntronicSNV - 6/25
2-170047022-C-A LRP2 c.9032+1320G>T - IntronicSNV - 48/78
2-170047022-C-T LRP2 c.9032+1320G>A - IntronicSNV - 48/78
21-38997701-G-A KCNJ6 c.1032C>T p.Asp344Asp Synonymous 4/4 -
20-19459328-A-C SLC24A3 c.272-36804A>C - IntronicSNV - 2/16
7-81956740-A-G CACNA2D1 c.294+7711T>C - IntronicSNV - 3/38
10-17006664-C-T CUBN c.4696-10117G>A - IntronicSNV - 31/66
5-92997895-A-G FAM172A c.1109-41060T>C - IntronicSNV - 10/10
6-105844161-T-G PREP c.120+1567A>C - IntronicSNV - 2/14
20-19487535-A-G SLC24A3 c.272-8597A>G - IntronicSNV - 2/16
3-54649245-G-C CACNA2D3 c.964-12569G>C - IntronicSNV - 9/37
20-19487535-A-T SLC24A3 c.272-8597A>T - IntronicSNV - 2/16
1-215288919-C-T KCNK2 c.313-9057C>T - IntronicSNV - 2/6
8-15614315-T-C TUSC3 c.1029-985T>C - IntronicSNV - 9/10
8-15406306-C-A TUSC3 c.138+8229C>A - IntronicSNV - 1/10
2-40418386-T-G SLC8A1 c.1809-12753A>C - IntronicSNV - 2/10
3-54649245-G-A CACNA2D3 c.964-12569G>A - IntronicSNV - 9/37
15-48633153-C-T DUT c.557-333C>T - IntronicSNV - 4/6
1-237909539-C-T RYR2 c.11145+3890C>T - IntronicSNV - 80/104
10-16939976-G-T CUBN c.8598+1019C>A - IntronicSNV - 54/66
1-166922035-C-T ILDR2 c.499+3935G>A - IntronicSNV - 3/9
1-215331257-A-T KCNK2 c.431-11285A>T - IntronicSNV - 3/6
2-170052876-T-C LRP2 c.8698+545A>G - IntronicSNV - 46/78
2-40364895-C-G SLC8A1 c.2545+1646G>C - IntronicSNV - 10/10
9-73378890-T-C TRPM3 c.690-2250A>G - IntronicSNV - 7/24
21-39077777-A-G KCNJ6 c.946+8737T>C - IntronicSNV - 3/3
3-19427248-G-A KCNH8 c.812-4725G>A - IntronicSNV - 5/15
2-40391516-G-A SLC8A1 c.2169+478C>T - IntronicSNV - 8/10
3-156166830-G-A KCNAB1 c.287-3858G>A - IntronicSNV - 2/13
8-15497331-G-A TUSC3 c.309-10875G>A - IntronicSNV - 2/10
8-15497331-G-C TUSC3 c.309-10875G>C - IntronicSNV - 2/10
6-33036689-C-T HLA-DPA1 c.628+107G>A - IntronicSNV - 3/4
20-19498915-C-T SLC24A3 c.348+2707C>T - IntronicSNV - 3/16
15-33754911-A-T RYR3 c.52-10709A>T - IntronicSNV - 1/103
2-40364895-C-T SLC8A1 c.2545+1646G>A - IntronicSNV - 10/10
1-215331257-A-G KCNK2 c.431-11285A>G - IntronicSNV - 3/6
7-81912148-G-A CACNA2D1 c.294+52303C>T - IntronicSNV - 3/38
20-19507731-G-T SLC24A3 c.348+11523G>T - IntronicSNV - 3/16
8-15615689-C-A TUSC3 c.*371C>A - IntronicSNV - 10/10
1-25144573-T-A CLIC4 c.308+3863T>A - IntronicSNV - 3/5
10-16926922-G-T CUBN c.8905+3494C>A - IntronicSNV - 56/66
20-19494801-T-C SLC24A3 c.272-1331T>C - IntronicSNV - 2/16
8-15618380-C-T TUSC3 c.*3062C>T - IntronicSNV - 10/10
2-40397165-A-G SLC8A1 c.2038+256T>C - IntronicSNV - 7/10
9-73199483-C-T TRPM3 c.2734+6464G>A - IntronicSNV - 21/24
21-39027272-G-A KCNJ6 c.947-29486C>T - IntronicSNV - 3/3
3-54718721-T-C CACNA2D3 c.1167+42453T>C - IntronicSNV - 11/37
10-16997891-G-T CUBN c.4696-1344C>A - IntronicSNV - 31/66
10-16997891-G-A CUBN c.4696-1344C>T - IntronicSNV - 31/66
9-73389934-G-A TRPM3 c.689+9087C>T - IntronicSNV - 7/24
2-40485074-C-T SLC8A1 c.1809-79441G>A - IntronicSNV - 2/10
10-128153755-G-A C10orf90 c.1244-200C>T - IntronicSNV - 3/8
1-170696474-A-T PRRX1 c.599+932A>T - IntronicSNV - 3/4
8-15616806-A-G TUSC3 c.*1488A>G - IntronicSNV - 10/10
2-40390470-C-T SLC8A1 c.2169+1524G>A - IntronicSNV - 8/10
20-19527837-T-G SLC24A3 c.348+31629T>G - IntronicSNV - 3/16
20-19527837-T-A SLC24A3 c.348+31629T>A - IntronicSNV - 3/16
20-19527837-T-C SLC24A3 c.348+31629T>C - IntronicSNV - 3/16
12-26858066-G-C ITPR2 c.951+6040C>G - IntronicSNV - 9/56
10-16948177-A-G CUBN c.7912+25T>C - IntronicSNV - 50/66
8-15526849-C-A TUSC3 c.709-4407C>A - IntronicSNV - 5/10
10-17041473-T-G CUBN c.4169-8959A>C - IntronicSNV - 28/66
8-15526849-C-T TUSC3 c.709-4407C>T - IntronicSNV - 5/10
8-15452518-G-T TUSC3 c.139-28071G>T - IntronicSNV - 1/10
12-65264090-C-T TBC1D30 c.1292-292C>T - IntronicSNV - 10/11
8-73634872-T-C KCNB2 c.579+154324T>C - IntronicSNV - 2/2
8-15587568-T-C TUSC3 c.799-607T>C - IntronicSNV - 6/10
1-237234361-G-A RYR2 c.48+28492G>A - IntronicSNV - 1/104
2-40387463-C-A SLC8A1 c.2269+442G>T - IntronicSNV - 9/10
8-82004857-A-G PAG1 c.-234+18969T>C - intron_variant - 1/8
2-234855354-T-C TRPM8 c.875-378T>C - IntronicSNV - 7/25
8-15596087-C-T TUSC3 c.863-4960C>T - IntronicSNV - 7/10
8-15617084-T-C TUSC3 c.*1766T>C - IntronicSNV - 10/10
2-40447587-T-A SLC8A1 c.1809-41954A>T - IntronicSNV - 2/10
20-19456637-A-G SLC24A3 c.272-39495A>G - IntronicSNV - 2/16
2-40381369-A-G SLC8A1 c.2269+6536T>C - IntronicSNV - 9/10
3-54747244-C-T CACNA2D3 c.1168-39382C>T - IntronicSNV - 11/37
2-40397109-C-T SLC8A1 c.2038+312G>A - IntronicSNV - 7/10
7-81853237-G-A CACNA2D1 c.295-53312C>T - IntronicSNV - 3/38
2-163241287-C-A KCNH7 c.2873G>T p.Gly958Val Missense 13/16 -
11-6459169-C-A HPX c.491-287G>T - IntronicSNV - 5/9
2-40400332-A-G SLC8A1 c.1969+1514T>C - IntronicSNV - 6/10
2-40341605-G-A SLC8A1 c.*788C>T - 3-UTRSNV 11/11 -
10-16971426-C-T CUBN c.6125-1124G>A - IntronicSNV - 40/66
8-15431475-A-G TUSC3 c.138+33398A>G - IntronicSNV - 1/10
2-163243108-C-T KCNH7 c.2711-1659G>A - IntronicSNV - 12/15
15-64662900-A-T PCLAF c.291-4626T>A - IntronicSNV - 3/3
7-81923441-T-C CACNA2D1 c.294+41010A>G - IntronicSNV - 3/38
15-64662900-A-G PCLAF c.291-4626T>C - IntronicSNV - 3/3
2-40364273-A-G SLC8A1 c.2545+2268T>C - IntronicSNV - 10/10
20-19509947-G-A SLC24A3 c.348+13739G>A - IntronicSNV - 3/16
2-40373872-A-G SLC8A1 c.2270-7056T>C - IntronicSNV - 9/10
2-40349757-C-T SLC8A1 c.2546-6988G>A - IntronicSNV - 10/10
2-40403104-A-G SLC8A1 c.1916-683T>C - IntronicSNV - 3/10
10-17016337-C-T CUBN c.4695+8146G>A - IntronicSNV - 31/66
2-40372775-G-A SLC8A1 c.2270-5959C>T - IntronicSNV - 9/10
20-19478353-A-G SLC24A3 c.272-17779A>G - IntronicSNV - 2/16
10-17061681-A-G CUBN c.4168+151T>C - IntronicSNV - 28/66
9-73391369-T-C TRPM3 c.689+7652A>G - IntronicSNV - 7/24
3-77582239-G-A ROBO2 c.982+10186G>A - IntronicSNV - 7/26
8-15608896-A-C TUSC3 c.1028+2922A>C - IntronicSNV - 9/10
3-54662474-C-T CACNA2D3 c.1053+571C>T - IntronicSNV - 10/37
2-163277032-T-G KCNH7 c.2154+2814A>C - IntronicSNV - 9/15
10-16948801-A-T CUBN c.7706-393T>A - IntronicSNV - 49/66
8-15576123-T-C TUSC3 c.799-12052T>C - IntronicSNV - 6/10
9-73393190-C-T TRPM3 c.689+5831G>A - IntronicSNV - 7/24
8-15576123-T-A TUSC3 c.799-12052T>A - IntronicSNV - 6/10
10-17064992-G-A CUBN c.4018-3010C>T - IntronicSNV - 27/66
2-40501351-T-G SLC8A1 c.1809-95718A>C - IntronicSNV - 2/10
20-19562579-C-T SLC24A3 c.423+1861C>T - IntronicSNV - 4/16
8-15420126-A-T TUSC3 c.138+22049A>T - IntronicSNV - 1/10
8-15613113-A-T TUSC3 c.1029-2187A>T - IntronicSNV - 9/10
8-15613113-A-G TUSC3 c.1029-2187A>G - IntronicSNV - 9/10
10-17006863-T-C CUBN c.4696-10316A>G - IntronicSNV - 31/66
3-54820146-T-C CACNA2D3 c.1380+21768T>C - IntronicSNV - 13/37
8-15596693-C-T TUSC3 c.863-4354C>T - IntronicSNV - 7/10
2-170053580-C-T LRP2 c.8579-40G>A - IntronicSNV - 45/78
11-99735152-T-C CNTN5 c.577+19158T>C - IntronicSNV - 6/24
2-40349094-A-T SLC8A1 c.2546-6325T>A - IntronicSNV - 10/10
20-19688147-G-A SLC24A3 c.1719+8823G>A - IntronicSNV - 15/16
3-54769696-C-T CACNA2D3 c.1168-16930C>T - IntronicSNV - 11/37
21-39024771-T-C KCNJ6 c.947-26985A>G - IntronicSNV - 3/3
2-40497501-C-A SLC8A1 c.1809-91868G>T - IntronicSNV - 2/10
2-40400489-G-A SLC8A1 c.1969+1357C>T - IntronicSNV - 6/10
15-33733138-T-C RYR3 c.52-32482T>C - IntronicSNV - 1/103
2-40378344-T-C SLC8A1 c.2269+9561A>G - IntronicSNV - 9/10
15-33741322-T-C RYR3 c.52-24298T>C - IntronicSNV - 1/103
8-15511767-A-G TUSC3 c.426+3444A>G - IntronicSNV - 3/10
2-40403803-T-C SLC8A1 c.1916-1382A>G - IntronicSNV - 3/10
2-40377084-G-A SLC8A1 c.2270-10268C>T - IntronicSNV - 9/10
2-40404839-C-T SLC8A1 c.1915+688G>A - IntronicSNV - 3/10
10-16966766-A-G CUBN c.6646+474T>C - IntronicSNV - 43/66
12-26858066-G-A ITPR2 c.951+6040C>T - IntronicSNV - 9/56
2-40477658-A-C SLC8A1 c.1809-72025T>G - IntronicSNV - 2/10
8-15427448-G-T TUSC3 c.138+29371G>T - IntronicSNV - 1/10
2-40341847-C-T SLC8A1 c.*546G>A - 3-UTRSNV 11/11 -
2-40423454-T-G SLC8A1 c.1809-17821A>C - IntronicSNV - 2/10
20-19456060-A-T SLC24A3 c.272-40072A>T - IntronicSNV - 2/16
8-15616646-A-G TUSC3 c.*1328A>G - IntronicSNV - 10/10
10-17016258-C-T CUBN c.4695+8225G>A - IntronicSNV - 31/66
15-33754911-A-G RYR3 c.52-10709A>G - IntronicSNV - 1/103
8-15559730-G-T TUSC3 c.798+28385G>T - IntronicSNV - 6/10
14-90596297-C-A KCNK13 c.335-54158C>A - IntronicSNV - 1/1
2-40503013-C-T SLC8A1 c.1809-97380G>A - IntronicSNV - 2/10
8-15618407-A-G TUSC3 c.*3089A>G - IntronicSNV - 10/10
20-19456060-A-G SLC24A3 c.272-40072A>G - IntronicSNV - 2/16
2-40395982-C-T SLC8A1 c.2038+1439G>A - IntronicSNV - 7/10
8-15559730-G-A TUSC3 c.798+28385G>A - IntronicSNV - 6/10
3-54793450-T-C CACNA2D3 c.1247-4795T>C - IntronicSNV - 12/37
3-54793450-T-A CACNA2D3 c.1247-4795T>A - IntronicSNV - 12/37
6-36490733-A-G STK38 c.307-1139T>C - IntronicSNV - 4/13
8-15594164-T-C TUSC3 c.862+5926T>C - IntronicSNV - 7/10
9-73305723-T-C TRPM3 c.814-9229A>G - IntronicSNV - 8/24
8-15467658-C-T TUSC3 c.139-12931C>T - IntronicSNV - 1/10
5-143605161-C-T KCTD16 c.832+18052C>T - IntronicSNV - 3/3
10-16996966-C-G CUBN c.4696-419G>C - IntronicSNV - 31/66
9-73282815-A-G TRPM3 c.886+13607T>C - IntronicSNV - 9/24
2-40469480-C-A SLC8A1 c.1809-63847G>T - IntronicSNV - 2/10
20-37197701-A-C RALGAPB c.3955-830A>C - IntronicSNV - 26/29
8-73633305-C-T KCNB2 c.579+152757C>T - IntronicSNV - 2/2
8-15589066-C-A TUSC3 c.862+828C>A - IntronicSNV - 7/10
20-19547270-G-A SLC24A3 c.349-13374G>A - IntronicSNV - 3/16
3-54790379-C-T CACNA2D3 c.1246+3675C>T - IntronicSNV - 12/37
8-15535716-G-A TUSC3 c.798+4371G>A - IntronicSNV - 6/10
9-73288256-A-G TRPM3 c.886+8166T>C - IntronicSNV - 9/24
20-19356930-C-T SLC24A3 c.271+95199C>T - IntronicSNV - 2/16
2-40391789-G-T SLC8A1 c.2169+205C>A - IntronicSNV - 8/10
21-39014892-C-A KCNJ6 c.947-17106G>T - IntronicSNV - 3/3
8-15595782-G-A TUSC3 c.863-5265G>A - IntronicSNV - 7/10
2-40391789-G-A SLC8A1 c.2169+205C>T - IntronicSNV - 8/10
9-99311177-G-A CDC14B c.497+2901C>T - IntronicSNV - 5/13
10-16985766-A-G CUBN c.5342+3468T>C - IntronicSNV - 36/66
2-40401500-C-T SLC8A1 c.1969+346G>A - IntronicSNV - 6/10
2-40493990-C-T SLC8A1 c.1809-88357G>A - IntronicSNV - 2/10
2-40350271-G-T SLC8A1 c.2546-7502C>A - IntronicSNV - 10/10
21-39001613-T-G KCNJ6 c.947-3827A>C - IntronicSNV - 3/3
20-19463674-A-G SLC24A3 c.272-32458A>G - IntronicSNV - 2/16
1-1194804-T-C UBE2J2 c.173-2114A>G - IntronicSNV - 3/6
8-73665740-C-T KCNB2 c.580-182430C>T - IntronicSNV - 2/2
2-40489408-C-T SLC8A1 c.1809-83775G>A - IntronicSNV - 2/10
1-36079508-G-A PSMB2 c.286-4499C>T - IntronicSNV - 3/5
2-40400312-A-G SLC8A1 c.1969+1534T>C - IntronicSNV - 6/10
20-19544924-C-T SLC24A3 c.349-15720C>T - IntronicSNV - 3/16
10-17014984-G-A CUBN c.4695+9499C>T - IntronicSNV - 31/66
7-81944479-A-G CACNA2D1 c.294+19972T>C - IntronicSNV - 3/38
12-21451129-T-C SLCO1A2 c.911-627A>G - IntronicSNV - 7/13
3-54435563-G-A CACNA2D3 c.381+14762G>A - IntronicSNV - 4/37
20-19560664-G-T SLC24A3 c.369G>T p.Ala123Ala Synonymous 4/17 -
21-39012977-T-C KCNJ6 c.947-15191A>G - IntronicSNV - 3/3
9-73306537-C-T TRPM3 c.814-10043G>A - IntronicSNV - 8/24
20-19560664-G-A SLC24A3 c.369G>A p.Ala123Ala Synonymous 4/17 -
20-19560664-G-C SLC24A3 c.369G>C p.Ala123Ala Synonymous 4/17 -
15-64726264-T-C TRIP4 c.1575+8434T>C - IntronicSNV - 11/12
20-19516254-G-A SLC24A3 c.348+20046G>A - IntronicSNV - 3/16
10-17038138-G-A CUBN c.4169-5624C>T - IntronicSNV - 28/66
17-70892023-T-C SLC39A11 c.452-46080A>G - IntronicSNV - 5/9
2-40447587-T-C SLC8A1 c.1809-41954A>G - IntronicSNV - 2/10
9-73306537-C-A TRPM3 c.814-10043G>T - IntronicSNV - 8/24
15-33766809-A-C RYR3 c.171+1070A>C - IntronicSNV - 2/103
8-73633849-A-G KCNB2 c.579+153301A>G - IntronicSNV - 2/2
9-73361373-G-A TRPM3 c.813+15144C>T - IntronicSNV - 8/24
8-15530342-G-A TUSC3 c.709-914G>A - IntronicSNV - 5/10
8-15530342-G-T TUSC3 c.709-914G>T - IntronicSNV - 5/10
8-15608819-G-A TUSC3 c.1028+2845G>A - IntronicSNV - 9/10
15-33747956-G-A RYR3 c.52-17664G>A - IntronicSNV - 1/103
2-170054180-G-T LRP2 c.8579-640C>A - IntronicSNV - 45/78
9-73218656-C-T TRPM3 c.2179-270G>A - IntronicSNV - 18/24
8-15476383-C-T TUSC3 c.139-4206C>T - IntronicSNV - 1/10
8-15608819-G-T TUSC3 c.1028+2845G>T - IntronicSNV - 9/10
1-170696474-A-G PRRX1 c.599+932A>G - IntronicSNV - 3/4
1-170696474-A-C PRRX1 c.599+932A>C - IntronicSNV - 3/4
2-170054180-G-A LRP2 c.8579-640C>T - IntronicSNV - 45/78
10-17029935-C-T CUBN c.4350+2398G>A - IntronicSNV - 29/66
2-40459645-T-C SLC8A1 c.1809-54012A>G - IntronicSNV - 2/10
10-17024849-A-G CUBN c.4526-197T>C - IntronicSNV - 30/66
8-15585124-A-C TUSC3 c.799-3051A>C - IntronicSNV - 6/10
9-73225802-T-G TRPM3 c.2038-137A>C - IntronicSNV - 17/24
9-73225802-T-A TRPM3 c.2038-137A>T - IntronicSNV - 17/24
8-15450409-T-G TUSC3 c.139-30180T>G - IntronicSNV - 1/10
20-19505224-G-A SLC24A3 c.348+9016G>A - IntronicSNV - 3/16
2-40388357-G-A SLC8A1 c.2170-353C>T - IntronicSNV - 8/10
20-19505224-G-T SLC24A3 c.348+9016G>T - IntronicSNV - 3/16
7-81951532-A-T CACNA2D1 c.294+12919T>A - IntronicSNV - 3/38
10-16965227-A-G CUBN c.6646+2013T>C - IntronicSNV - 43/66
7-81951532-A-G CACNA2D1 c.294+12919T>C - IntronicSNV - 3/38
2-40363644-C-A SLC8A1 c.2545+2897G>T - IntronicSNV - 10/10
3-121459589-G-A GOLGB1 c.-3+8890C>T - intron_variant - 1/21
8-73795460-A-G KCNB2 c.580-52710A>G - IntronicSNV - 2/2
8-15479638-A-C TUSC3 c.139-951A>C - IntronicSNV - 1/10
8-15598202-A-C TUSC3 c.863-2845A>C - IntronicSNV - 7/10
12-51402914-G-A SLC11A2 c.35-507C>T - IntronicSNV - 2/15
2-170046850-C-T LRP2 c.9032+1492G>A - IntronicSNV - 48/78
10-17018318-C-T CUBN c.4695+6165G>A - IntronicSNV - 31/66
7-65709867-A-G TPST1 c.845+3610A>G - IntronicSNV - 2/5
8-15614315-T-G TUSC3 c.1029-985T>G - IntronicSNV - 9/10
8-73668999-G-A KCNB2 c.580-179171G>A - IntronicSNV - 2/2
20-19564963-A-C SLC24A3 c.424-652A>C - IntronicSNV - 4/16
1-215334079-G-T KCNK2 c.431-8463G>T - IntronicSNV - 3/6
20-19488952-A-G SLC24A3 c.272-7180A>G - IntronicSNV - 2/16
2-40406518-C-T SLC8A1 c.1809-885G>A - IntronicSNV - 2/10
7-65709867-A-T TPST1 c.845+3610A>T - IntronicSNV - 2/5
2-163365002-C-T KCNH7 c.914-3835G>A - IntronicSNV - 5/15
21-39012802-G-A KCNJ6 c.947-15016C>T - IntronicSNV - 3/3
8-15622858-A-G TUSC3 c.*1193A>G - 3_prime_UTR_variant 11/11 -
8-15594976-T-A TUSC3 c.863-6071T>A - IntronicSNV - 7/10
8-15422664-T-A TUSC3 c.138+24587T>A - IntronicSNV - 1/10
8-15422664-T-C TUSC3 c.138+24587T>C - IntronicSNV - 1/10
8-73635954-C-T KCNB2 c.579+155406C>T - IntronicSNV - 2/2
20-19547298-C-A SLC24A3 c.349-13346C>A - IntronicSNV - 3/16
8-15470543-G-A TUSC3 c.139-10046G>A - IntronicSNV - 1/10
9-73312129-C-A TRPM3 c.814-15635G>T - IntronicSNV - 8/24
8-73635954-C-G KCNB2 c.579+155406C>G - IntronicSNV - 2/2
1-59791970-T-C FGGY c.201+4548T>C - IntronicSNV - 2/16
1-59791970-T-G FGGY c.201+4548T>G - IntronicSNV - 2/16
14-63181642-C-T KCNH5 c.2020-6469G>A - IntronicSNV - 10/10
2-40395937-T-C SLC8A1 c.2038+1484A>G - IntronicSNV - 7/10
2-40369688-T-G SLC8A1 c.2270-2872A>C - IntronicSNV - 9/10
8-15425792-A-G TUSC3 c.138+27715A>G - IntronicSNV - 1/10
2-40453794-A-G SLC8A1 c.1809-48161T>C - IntronicSNV - 2/10
7-81958387-G-A CACNA2D1 c.294+6064C>T - IntronicSNV - 3/38
20-19568711-T-G SLC24A3 c.612+2523T>G - IntronicSNV - 6/16
10-17033429-G-A CUBN c.4169-915C>T - IntronicSNV - 28/66
20-19527508-C-T SLC24A3 c.348+31300C>T - IntronicSNV - 3/16
10-16978429-G-A CUBN c.5926+1162C>T - IntronicSNV - 39/66
10-17030775-C-T CUBN c.4350+1558G>A - IntronicSNV - 29/66
10-16990908-C-T CUBN c.5081-303G>A - IntronicSNV - 34/66
8-15571187-T-C TUSC3 c.799-16988T>C - IntronicSNV - 6/10
2-40345471-T-C SLC8A1 c.2546-2702A>G - IntronicSNV - 10/10
4-162650988-T-C FSTL5 c.727+29575A>G - IntronicSNV - 6/15
20-19357993-A-G SLC24A3 c.271+96262A>G - IntronicSNV - 2/16
5-106854252-T-C EFNA5 c.126-91042A>G - IntronicSNV - 1/4
8-15461996-G-C TUSC3 c.139-18593G>C - IntronicSNV - 1/10
6-124435941-G-T NKAIN2 c.55-168210G>T - IntronicSNV - 1/6
20-19524558-T-A SLC24A3 c.348+28350T>A - IntronicSNV - 3/16
2-40472864-C-T SLC8A1 c.1809-67231G>A - IntronicSNV - 2/10
3-66308807-A-G SLC25A26 c.301-3668A>G - intron_variant - 4/10
10-16979661-T-C CUBN c.5856A>G p.Ser1952Ser Synonymous 39/67 -
3-66308807-A-T SLC25A26 c.301-3668A>T - intron_variant - 4/10
15-64814293-G-A ZNF609 c.747+21928G>A - IntronicSNV - 2/9
2-40407867-G-A SLC8A1 c.1809-2234C>T - IntronicSNV - 2/10
8-15470729-A-G TUSC3 c.139-9860A>G - IntronicSNV - 1/10
8-15594976-T-G TUSC3 c.863-6071T>G - IntronicSNV - 7/10
2-40456356-G-C SLC8A1 c.1809-50723C>G - IntronicSNV - 2/10
2-40456356-G-A SLC8A1 c.1809-50723C>T - IntronicSNV - 2/10
2-40376453-T-G SLC8A1 c.2270-9637A>C - IntronicSNV - 9/10
10-16921370-T-C CUBN c.8906-2274A>G - IntronicSNV - 56/66
8-15470729-A-T TUSC3 c.139-9860A>T - IntronicSNV - 1/10
8-15584030-T-C TUSC3 c.799-4145T>C - IntronicSNV - 6/10
21-38998126-A-G KCNJ6 c.947-340T>C - IntronicSNV - 3/3
12-26744460-T-G ITPR2 c.4380+3938A>C - IntronicSNV - 32/56
9-73378890-T-A TRPM3 c.690-2250A>T - IntronicSNV - 7/24
13-24412180-A-G MIPEP c.1339-285T>C - IntronicSNV - 12/18
8-15488238-T-A TUSC3 c.308+7480T>A - IntronicSNV - 2/10
10-16926922-G-A CUBN c.8905+3494C>T - IntronicSNV - 56/66
3-54727077-C-A CACNA2D3 c.1167+50809C>A - IntronicSNV - 11/37
2-40451724-A-C SLC8A1 c.1809-46091T>G - IntronicSNV - 2/10
20-19522665-T-C SLC24A3 c.348+26457T>C - IntronicSNV - 3/16
8-15491550-C-G TUSC3 c.308+10792C>G - IntronicSNV - 2/10
8-15491550-C-T TUSC3 c.308+10792C>T - IntronicSNV - 2/10
10-16966766-A-T CUBN c.6646+474T>A - IntronicSNV - 43/66
8-73799524-A-C KCNB2 c.580-48646A>C - IntronicSNV - 2/2
12-30829674-T-G IPO8 c.640-153A>C - IntronicSNV - 5/24
3-54772441-C-T CACNA2D3 c.1168-14185C>T - IntronicSNV - 11/37
10-17064459-A-T CUBN c.4018-2477T>A - IntronicSNV - 27/66
8-15470543-G-C TUSC3 c.139-10046G>C - IntronicSNV - 1/10
10-17064459-A-G CUBN c.4018-2477T>C - IntronicSNV - 27/66
10-17032281-C-T CUBN c.4350+52G>A - IntronicSNV - 29/66
8-15427155-G-A TUSC3 c.138+29078G>A - IntronicSNV - 1/10
15-33775618-G-A RYR3 c.171+9879G>A - IntronicSNV - 2/103
8-73617600-A-G KCNB2 c.579+137052A>G - IntronicSNV - 2/2
10-16999451-T-C CUBN c.4696-2904A>G - IntronicSNV - 31/66
10-16934170-C-T CUBN c.8599-1644G>A - IntronicSNV - 54/66
8-15405959-C-A TUSC3 c.138+7882C>A - IntronicSNV - 1/10
2-40476866-T-G SLC8A1 c.1809-71233A>C - IntronicSNV - 2/10
7-81902131-A-T CACNA2D1 c.294+62320T>A - IntronicSNV - 3/38
10-82373279-G-T SH2D4B c.841+3972G>T - IntronicSNV - 6/6
2-40366301-G-A SLC8A1 c.2545+240C>T - IntronicSNV - 10/10
2-109579738-C-A EDAR c.-19+25678G>T - intron_variant - 1/11
20-19456569-A-G SLC24A3 c.272-39563A>G - IntronicSNV - 2/16
10-16996684-C-T CUBN c.4696-137G>A - IntronicSNV - 31/66
10-16939548-G-T CUBN c.8598+1447C>A - IntronicSNV - 54/66
10-16996966-C-T CUBN c.4696-419G>A - IntronicSNV - 31/66
10-82373279-G-A SH2D4B c.841+3972G>A - IntronicSNV - 6/6
9-73234776-G-T TRPM3 c.1640+216C>A - IntronicSNV - 15/24
8-73631168-C-G KCNB2 c.579+150620C>G - IntronicSNV - 2/2
8-73631168-C-T KCNB2 c.579+150620C>T - IntronicSNV - 2/2
8-15461996-G-A TUSC3 c.139-18593G>A - IntronicSNV - 1/10
15-28283441-A-G OCA2 c.228-6132T>C - IntronicSNV - 2/23
3-54795064-T-C CACNA2D3 c.1247-3181T>C - IntronicSNV - 12/37
7-81902131-A-C CACNA2D1 c.294+62320T>G - IntronicSNV - 3/38
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
2-40471407-A-G SLC8A1 c.1809-65774T>C - IntronicSNV - 2/10