PMID: 29963304

Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome-wide association studies in a Japanese population.

Biomedical reports
Y Yasukochi, J Sakuma, I Takeuchi, K Kato, M Oguri, T Fujimaki, H Horibe, Y Yamada
2018-08

293 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-50610321-T-C LIMA1 c.630+5483A>G - IntronicSNV - 4/10
20-50771635-C-A ZFP64 c.764-1668G>T - IntronicSNV - 5/5
12-50626065-A-G LIMA1 c.120-572T>C - IntronicSNV - 2/10
12-50626065-A-T LIMA1 c.120-572T>A - IntronicSNV - 2/10
12-50648960-A-T LIMA1 c.1-6426T>A - IntronicSNV - 1/10
12-50756275-C-A FAM186A c.412+653G>T - IntronicSNV - 2/7
20-50788577-C-T ZFP64 c.287-6013G>A - IntronicSNV - 2/5
12-50755545-A-T FAM186A c.413-836T>A - IntronicSNV - 2/7
12-50755545-A-G FAM186A c.413-836T>C - IntronicSNV - 2/7
18-60054857-A-C TNFRSF11A c.*2865A>C - 3-UTRSNV 9/9 -
18-60054857-A-T TNFRSF11A c.*2865A>T - 3-UTRSNV 9/9 -
12-50541127-A-G CERS5 c.198-3287T>C - IntronicSNV - 1/9
12-50662437-G-A LIMA1 c.-24+14766C>T - intron_variant - 1/10
20-50769183-G-A ZFP64 c.1548C>T p.Ala516Ala Synonymous 6/6 -
12-50611617-G-C LIMA1 c.630+4187C>G - IntronicSNV - 4/10
12-50671370-T-C LIMA1 c.-24+5833A>G - intron_variant - 1/10
19-14769339-C-A ADGRE3 c.379G>T p.Glu127* Nonsense 5/16 -
12-50776691-A-G FAM186A c.192+13385T>C - IntronicSNV - 1/7
19-14752863-G-A ADGRE3 c.1051-435C>T - IntronicSNV - 9/15
12-50751146-G-A FAM186A c.584-1115C>T - IntronicSNV - 3/7
20-50800289-G-A ZFP64 c.286+3082C>T - IntronicSNV - 2/5
12-50674753-C-T LIMA1 c.-24+2450G>A - intron_variant - 1/10
12-50593867-G-A LIMA1 c.972+693C>T - IntronicSNV - 7/10
12-50636940-T-C LIMA1 c.119+5476A>G - IntronicSNV - 2/10
12-50605758-C-CC LIMA1 c.631-5905_631-5905dup - IntronicInsertion - 4/10
12-50289657-T-C FAIM2 c.434+1157A>G - IntronicSNV - 5/11
19-14776900-C-T ADGRE3 c.77-2548G>A - IntronicSNV - 2/15
12-50677100-C-A LIMA1 c.-24+103G>T - intron_variant - 1/10
12-50677100-C-T LIMA1 c.-24+103G>A - intron_variant - 1/10
20-50785178-T-G ZFP64 c.287-2614A>C - IntronicSNV - 2/5
12-50756353-C-T FAM186A c.412+575G>A - IntronicSNV - 2/7
12-50611617-G-A LIMA1 c.630+4187C>T - IntronicSNV - 4/10
12-50621791-C-T LIMA1 c.165+3657G>A - IntronicSNV - 3/10
12-50630412-A-AA LIMA1 c.120-4919_120-4919dup - IntronicInsertion - 2/10
12-50280430-T-C FAIM2 c.801+739A>G - IntronicSNV - 11/11
12-50747005-T-C FAM186A c.3610A>G p.Arg1204Gly Missense 4/8 -
19-14753989-C-T ADGRE3 c.1050+931G>A - IntronicSNV - 9/15
12-50760443-C-G FAM186A c.193-3296G>C - IntronicSNV - 1/7
12-50760443-C-T FAM186A c.193-3296G>A - IntronicSNV - 1/7
12-50760443-C-A FAM186A c.193-3296G>T - IntronicSNV - 1/7
12-50621860-C-A LIMA1 c.165+3588G>T - IntronicSNV - 3/10
12-50756036-G-T FAM186A c.412+892C>A - IntronicSNV - 2/7
20-50780257-C-A ZFP64 c.511+977G>T - IntronicSNV - 4/5
12-50289667-G-A FAIM2 c.434+1147C>T - IntronicSNV - 5/11
12-50747005-T-A FAM186A c.3610A>T p.Arg1204Trp Missense 4/8 -
20-50783204-G-T ZFP64 c.287-640C>A - IntronicSNV - 2/5
12-50776003-T-G FAM186A c.192+14073A>C - IntronicSNV - 1/7
12-50611477-G-A LIMA1 c.630+4327C>T - IntronicSNV - 4/10
12-50727706-G-C FAM186A c.6684C>G p.His2228Gln Missense 5/8 -
12-50583150-A-G LIMA1 c.1140+3085T>C - IntronicSNV - 9/10
12-50752384-C-A FAM186A c.583+2155G>T - IntronicSNV - 3/7
12-50541127-A-C CERS5 c.198-3287T>G - IntronicSNV - 1/9
12-50619618-T-C LIMA1 c.166-3350A>G - IntronicSNV - 3/10
19-14755548-T-C ADGRE3 c.883-461A>G - IntronicSNV - 8/15
12-50616346-A-G LIMA1 c.166-78T>C - IntronicSNV - 3/10
12-50742502-C-T FAM186A c.6503+1610G>A - IntronicSNV - 4/7
12-50642314-A-G LIMA1 c.119+102T>C - IntronicSNV - 2/10
12-50623173-C-T LIMA1 c.165+2275G>A - IntronicSNV - 3/10
12-50657732-C-G LIMA1 c.1-15198G>C - IntronicSNV - 1/10
20-50768476-T-C ZFP64 c.*209A>G - 3-UTRSNV 6/6 -
12-50510462-C-G COX14 c.1-3365C>G - IntronicSNV - 1/1
12-50510462-C-T COX14 c.1-3365C>T - IntronicSNV - 1/1
12-50761118-T-A FAM186A c.193-3971A>T - IntronicSNV - 1/7
12-50510947-C-A COX14 c.1-2880C>A - IntronicSNV - 1/1
12-50611311-T-A LIMA1 c.630+4493A>T - IntronicSNV - 4/10
12-50663856-A-G LIMA1 c.-24+13347T>C - intron_variant - 1/10
12-50739205-C-T FAM186A c.6503+4907G>A - IntronicSNV - 4/7
12-50573500-A-G LIMA1 c.1275-1648T>C - IntronicSNV - 10/10
12-50604121-G-A LIMA1 c.631-4270C>T - IntronicSNV - 4/10
12-50670560-T-C LIMA1 c.-24+6643A>G - intron_variant - 1/10
20-50778947-T-C ZFP64 c.512-2034A>G - IntronicSNV - 4/5
12-50742041-C-T FAM186A c.6503+2071G>A - IntronicSNV - 4/7
20-50796187-G-T ZFP64 c.286+7184C>A - IntronicSNV - 2/5
20-50802144-A-T ZFP64 c.286+1227T>A - IntronicSNV - 2/5
12-50670560-T-G LIMA1 c.-24+6643A>C - intron_variant - 1/10
20-50782945-G-A ZFP64 c.287-381C>T - IntronicSNV - 2/5
12-50583204-C-T LIMA1 c.1140+3031G>A - IntronicSNV - 9/10
12-50580396-A-C LIMA1 c.1141-4576T>G - IntronicSNV - 9/10
19-14767574-T-C ADGRE3 c.394-1597A>G - IntronicSNV - 5/15
12-50761067-C-T FAM186A c.193-3920G>A - IntronicSNV - 1/7
20-50796187-G-A ZFP64 c.286+7184C>T - IntronicSNV - 2/5
20-50768406-T-C ZFP64 c.*279A>G - 3-UTRSNV 6/6 -
12-50752721-G-A FAM186A c.583+1818C>T - IntronicSNV - 3/7
12-50272671-G-GCG FAIM2 c.802-8235_802-8234insGC - IntronicInsertion - 11/11
12-50764711-G-A FAM186A c.193-7564C>T - IntronicSNV - 1/7
12-50533788-G-T CERS5 c.493-1388C>A - IntronicSNV - 4/9
12-50723626-G-A FAM186A c.7034+730C>T - IntronicSNV - 7/7
20-50779737-T-C ZFP64 c.511+1497A>G - IntronicSNV - 4/5
19-14776900-C-A ADGRE3 c.77-2548G>T - IntronicSNV - 2/15
12-50507709-C-T COX14 c.-9+1625C>T - intron_variant - 1/1
12-50604121-G-T LIMA1 c.631-4270C>A - IntronicSNV - 4/10
12-50744119-G-A FAM186A c.6496C>T p.His2166Tyr Missense 4/8 -
12-50263148-G-A FAIM2 c.*1139C>T - 3-UTRSNV 12/12 -
20-50783155-G-A ZFP64 c.287-591C>T - IntronicSNV - 2/5
12-50670560-T-A LIMA1 c.-24+6643A>T - intron_variant - 1/10
20-50799026-G-A ZFP64 c.286+4345C>T - IntronicSNV - 2/5
12-50614735-G-A LIMA1 c.630+1069C>T - IntronicSNV - 4/10
12-50614735-G-T LIMA1 c.630+1069C>A - IntronicSNV - 4/10
12-50573433-G-C LIMA1 c.1275-1581C>G - IntronicSNV - 10/10
12-50668144-G-A LIMA1 c.-24+9059C>T - intron_variant - 1/10
20-50779840-C-A ZFP64 c.511+1394G>T - IntronicSNV - 4/5
12-50744171-T-A FAM186A c.6444A>T p.Thr2148Thr Synonymous 4/8 -
20-50779840-C-T ZFP64 c.511+1394G>A - IntronicSNV - 4/5
12-50270855-T-G FAIM2 c.802-6419A>C - IntronicSNV - 11/11
12-50736265-A-T FAM186A c.6503+7847T>A - IntronicSNV - 4/7
12-50723565-G-A FAM186A c.7034+791C>T - IntronicSNV - 7/7
12-50652929-T-C LIMA1 c.1-10395A>G - IntronicSNV - 1/10
20-50769549-A-G ZFP64 c.1182T>C p.His394His Synonymous 6/6 -
12-50651456-T-A LIMA1 c.1-8922A>T - IntronicSNV - 1/10
12-50573506-A-C LIMA1 c.1275-1654T>G - IntronicSNV - 10/10
12-50523504-C-T CERS5 c.*824G>A - IntergenicSNV 10/10 -
12-50730243-C-T FAM186A c.6504-2357G>A - IntronicSNV - 4/7
12-50285061-T-C FAIM2 c.435-164A>G - IntronicSNV - 5/11
12-50552529-C-T CERS5 c.197+8355G>A - IntronicSNV - 1/9
12-50592613-A-T LIMA1 c.972+1947T>A - IntronicSNV - 7/10
20-50779832-A-G ZFP64 c.511+1402T>C - IntronicSNV - 4/5
12-50285780-T-G FAIM2 c.435-883A>C - IntronicSNV - 5/11
20-50771635-C-T ZFP64 c.764-1668G>A - IntronicSNV - 5/5
12-50730458-C-G FAM186A c.6504-2572G>C - IntronicSNV - 4/7
12-50730458-C-T FAM186A c.6504-2572G>A - IntronicSNV - 4/7
20-50780456-C-T ZFP64 c.511+778G>A - IntronicSNV - 4/5
12-50765733-T-C FAM186A c.193-8586A>G - IntronicSNV - 1/7
12-50643958-A-G LIMA1 c.1-1424T>C - IntronicSNV - 1/10
12-50643958-A-C LIMA1 c.1-1424T>G - IntronicSNV - 1/10
12-50725965-T-C FAM186A c.6697-361A>G - IntronicSNV - 5/7
19-14767260-T-C ADGRE3 c.394-1283A>G - IntronicSNV - 5/15
12-50546710-A-G CERS5 c.198-8870T>C - IntronicSNV - 1/9
12-50776691-A-T FAM186A c.192+13385T>A - IntronicSNV - 1/7
12-50746917-A-G FAM186A c.3698T>C p.Leu1233Pro Missense 4/8 -
19-14767260-T-A ADGRE3 c.394-1283A>T - IntronicSNV - 5/15
12-50595263-A-T LIMA1 c.865-596T>A - IntronicSNV - 6/10
20-50778856-A-G ZFP64 c.512-1943T>C - IntronicSNV - 4/5
12-50612686-A-C LIMA1 c.630+3118T>G - IntronicSNV - 4/10
12-50608041-G-GAA LIMA1 c.630+7762_630+7763insTT - IntronicInsertion - 4/10
12-50665946-G-T LIMA1 c.-24+11257C>A - intron_variant - 1/10
12-50734199-T-A FAM186A c.6504-6313A>T - IntronicSNV - 4/7
12-50602295-T-A LIMA1 c.631-2444A>T - IntronicSNV - 4/10
12-50753079-G-A FAM186A c.583+1460C>T - IntronicSNV - 3/7
12-50743913-C-T FAM186A c.6503+199G>A - IntronicSNV - 4/7
19-14766649-G-T ADGRE3 c.394-672C>A - IntronicSNV - 5/15
12-50672214-C-A LIMA1 c.-24+4989G>T - intron_variant - 1/10
20-50779277-G-A ZFP64 c.511+1957C>T - IntronicSNV - 4/5
12-50285562-C-T FAIM2 c.435-665G>A - IntronicSNV - 5/11
12-50636544-G-A LIMA1 c.119+5872C>T - IntronicSNV - 2/10
12-50755201-T-G FAM186A c.413-492A>C - IntronicSNV - 2/7
12-50601155-C-T LIMA1 c.631-1304G>A - IntronicSNV - 4/10
20-50770782-G-A ZFP64 c.764-815C>T - IntronicSNV - 5/5
12-50650564-G-A LIMA1 c.1-8030C>T - IntronicSNV - 1/10
12-50755201-T-C FAM186A c.413-492A>G - IntronicSNV - 2/7
20-50782608-G-T ZFP64 c.287-44C>A - IntronicSNV - 2/5
12-50772086-G-T FAM186A c.193-14939C>A - IntronicSNV - 1/7
12-50512975-G-A COX14 c.1-852G>A - IntronicSNV - 1/1
12-50625058-A-C LIMA1 c.165+390T>G - IntronicSNV - 3/10
12-50663386-G-A LIMA1 c.-24+13817C>T - intron_variant - 1/10
12-50662927-T-A LIMA1 c.-24+14276A>T - intron_variant - 1/10
12-50662927-T-C LIMA1 c.-24+14276A>G - intron_variant - 1/10
12-50614707-A-G LIMA1 c.630+1097T>C - IntronicSNV - 4/10
12-50757628-G-A FAM186A c.193-481C>T - IntronicSNV - 1/7
12-50275385-C-T FAIM2 c.801+5784G>A - IntronicSNV - 11/11
12-50552997-A-G CERS5 c.197+7887T>C - IntronicSNV - 1/9
19-14763856-T-G ADGRE3 c.578-1840A>C - IntronicSNV - 6/15
12-50763415-G-T FAM186A c.193-6268C>A - IntronicSNV - 1/7
12-50763415-G-A FAM186A c.193-6268C>T - IntronicSNV - 1/7
12-50771374-G-T FAM186A c.193-14227C>A - IntronicSNV - 1/7
12-50771374-G-C FAM186A c.193-14227C>G - IntronicSNV - 1/7
12-50612686-A-G LIMA1 c.630+3118T>C - IntronicSNV - 4/10
12-50513687-C-T COX14 c.1-140C>T - IntronicSNV - 1/1
20-50782608-G-A ZFP64 c.287-44C>T - IntronicSNV - 2/5
20-50775605-G-C ZFP64 c.763+1057C>G - IntronicSNV - 5/5
12-50646754-G-A LIMA1 c.1-4220C>T - IntronicSNV - 1/10
12-50751146-G-C FAM186A c.584-1115C>G - IntronicSNV - 3/7
12-50599219-A-G LIMA1 c.715+548T>C - IntronicSNV - 5/10
12-50544641-T-C CERS5 c.198-6801A>G - IntronicSNV - 1/9
12-50739205-C-G FAM186A c.6503+4907G>C - IntronicSNV - 4/7
12-50775814-T-G FAM186A c.192+14262A>C - IntronicSNV - 1/7
12-50739205-C-A FAM186A c.6503+4907G>T - IntronicSNV - 4/7
12-50750584-C-G FAM186A c.584-553G>C - IntronicSNV - 3/7
12-50581490-C-T LIMA1 c.1140+4745G>A - IntronicSNV - 9/10
12-50546125-G-T CERS5 c.198-8285C>A - IntronicSNV - 1/9
20-50780327-T-TT ZFP64 c.511+908_511+908dup - IntronicInsertion - 4/5
19-14777653-G-A ADGRE3 c.76+1961C>T - IntronicSNV - 2/15
19-14777653-G-C ADGRE3 c.76+1961C>G - IntronicSNV - 2/15
12-50654894-G-A LIMA1 c.1-12360C>T - IntronicSNV - 1/10
12-50581490-C-G LIMA1 c.1140+4745G>C - IntronicSNV - 9/10
12-50581490-C-A LIMA1 c.1140+4745G>T - IntronicSNV - 9/10
12-50668538-C-T LIMA1 c.-24+8665G>A - intron_variant - 1/10
12-50674049-C-T LIMA1 c.-24+3154G>A - intron_variant - 1/10
12-50756036-G-A FAM186A c.412+892C>T - IntronicSNV - 2/7
19-14755599-G-A ADGRE3 c.883-512C>T - IntronicSNV - 8/15
12-50743425-C-A FAM186A c.6503+687G>T - IntronicSNV - 4/7
12-50743425-C-G FAM186A c.6503+687G>C - IntronicSNV - 4/7
12-50756353-C-G FAM186A c.412+575G>C - IntronicSNV - 2/7
12-50778969-G-A FAM186A c.192+11107C>T - IntronicSNV - 1/7
12-50744171-T-G FAM186A c.6444A>C p.Thr2148Thr Synonymous 4/8 -
12-50744171-T-C FAM186A c.6444A>G p.Thr2148Thr Synonymous 4/8 -
12-50551158-G-A CERS5 c.197+9726C>T - IntronicSNV - 1/9
12-50525787-C-T CERS5 c.1030-1310G>A - IntronicSNV - 9/9
12-50525787-C-A CERS5 c.1030-1310G>T - IntronicSNV - 9/9
12-50649919-C-T LIMA1 c.1-7385G>A - IntronicSNV - 1/10
12-50534990-C-T CERS5 c.492+846G>A - IntronicSNV - 4/9
12-50761118-T-G FAM186A c.193-3971A>C - IntronicSNV - 1/7
12-50756506-A-G FAM186A c.412+422T>C - IntronicSNV - 2/7
12-50749294-A-G FAM186A c.1321T>C p.Leu441Leu Synonymous 4/8 -
12-50289657-T-G FAIM2 c.434+1157A>C - IntronicSNV - 5/11
20-50782102-T-C ZFP64 c.448+301A>G - IntronicSNV - 3/5
12-50750471-G-T FAM186A c.584-440C>A - IntronicSNV - 3/7
12-50529971-A-G CERS5 c.637-119T>C - IntronicSNV - 6/9
20-50779338-T-A ZFP64 c.511+1896A>T - IntronicSNV - 4/5
12-50270364-G-C FAIM2 c.802-5928C>G - IntronicSNV - 11/11
12-50723626-G-C FAM186A c.7034+730C>G - IntronicSNV - 7/7
12-50512632-T-C COX14 c.1-1195T>C - IntronicSNV - 1/1
12-50270364-G-T FAIM2 c.802-5928C>A - IntronicSNV - 11/11
12-50653975-T-C LIMA1 c.1-11441A>G - IntronicSNV - 1/10
20-50779420-C-T ZFP64 c.511+1814G>A - IntronicSNV - 4/5
12-50761067-C-G FAM186A c.193-3920G>C - IntronicSNV - 1/7
12-50768869-G-C FAM186A c.193-11722C>G - IntronicSNV - 1/7
20-50768412-C-T ZFP64 c.*273G>A - 3-UTRSNV 6/6 -
20-50781725-G-A ZFP64 c.449-429C>T - IntronicSNV - 3/5
20-50783449-T-C ZFP64 c.287-885A>G - IntronicSNV - 2/5
12-50756353-C-A FAM186A c.412+575G>T - IntronicSNV - 2/7
20-50780596-A-T ZFP64 c.511+638T>A - IntronicSNV - 4/5
12-50574763-C-T LIMA1 c.1274+924G>A - IntronicSNV - 10/10
19-14753770-G-T ADGRE3 c.1050+1150C>A - IntronicSNV - 9/15
12-50601941-G-T LIMA1 c.631-2090C>A - IntronicSNV - 4/10
20-50769379-C-T ZFP64 c.1352G>A p.Ser451Asn Missense 6/6 -
12-50261809-C-T FAIM2 c.*2478G>A - 3-UTRSNV 12/12 -
12-50763198-C-G FAM186A c.193-6051G>C - IntronicSNV - 1/7
20-50802144-A-G ZFP64 c.286+1227T>C - IntronicSNV - 2/5
12-50763198-C-T FAM186A c.193-6051G>A - IntronicSNV - 1/7
12-50583204-C-G LIMA1 c.1140+3031G>C - IntronicSNV - 9/10
19-14775366-T-A ADGRE3 c.77-1014A>T - IntronicSNV - 2/15
19-14775366-T-C ADGRE3 c.77-1014A>G - IntronicSNV - 2/15
12-50754563-T-G FAM186A c.559A>C p.Lys187Gln Missense 3/8 -
12-50510777-C-T COX14 c.1-3050C>T - IntronicSNV - 1/1
20-50783204-G-A ZFP64 c.287-640C>T - IntronicSNV - 2/5
12-50552997-A-T CERS5 c.197+7887T>A - IntronicSNV - 1/9
12-50624550-C-T LIMA1 c.165+898G>A - IntronicSNV - 3/10
19-14764742-G-A ADGRE3 c.577+1052C>T - IntronicSNV - 6/15
12-50641572-C-A LIMA1 c.119+844G>T - IntronicSNV - 2/10
12-50641572-C-T LIMA1 c.119+844G>A - IntronicSNV - 2/10
12-50756266-G-A FAM186A c.412+662C>T - IntronicSNV - 2/7
12-50511848-G-A COX14 c.1-1979G>A - IntronicSNV - 1/1
12-50511848-G-T COX14 c.1-1979G>T - IntronicSNV - 1/1
12-50511848-G-C COX14 c.1-1979G>C - IntronicSNV - 1/1
12-50645471-G-A LIMA1 c.1-2937C>T - IntronicSNV - 1/10
12-50610976-C-T LIMA1 c.630+4828G>A - IntronicSNV - 4/10
19-14757602-C-T ADGRE3 c.882+391G>A - IntronicSNV - 8/15
12-50762361-G-A FAM186A c.193-5214C>T - IntronicSNV - 1/7
12-50738602-A-T FAM186A c.6503+5510T>A - IntronicSNV - 4/7
12-50738602-A-G FAM186A c.6503+5510T>C - IntronicSNV - 4/7
20-50782343-C-A ZFP64 c.448+60G>T - IntronicSNV - 3/5
12-50273739-G-A FAIM2 c.801+7430C>T - IntronicSNV - 11/11
12-50509583-C-A COX14 c.-9+3499C>A - intron_variant - 1/1
12-50628910-T-C LIMA1 c.120-3417A>G - IntronicSNV - 2/10
12-50762489-G-A FAM186A c.193-5342C>T - IntronicSNV - 1/7
12-50764836-T-C FAM186A c.193-7689A>G - IntronicSNV - 1/7
12-50539419-T-G CERS5 c.198-1579A>C - IntronicSNV - 1/9
19-14779550-C-T ADGRE3 c.76+64G>A - IntronicSNV - 2/15
12-50648960-A-G LIMA1 c.1-6426T>C - IntronicSNV - 1/10
12-50761067-C-A FAM186A c.193-3920G>T - IntronicSNV - 1/7
12-50529736-G-A CERS5 c.753C>T p.Asp251Asp Synonymous 7/10 -
12-50629612-G-A LIMA1 c.120-4119C>T - IntronicSNV - 2/10
12-50665227-T-C LIMA1 c.-24+11976A>G - intron_variant - 1/10
19-14779550-C-A ADGRE3 c.76+64G>T - IntronicSNV - 2/15
12-50723626-G-T FAM186A c.7034+730C>A - IntronicSNV - 7/7
20-50780907-C-T ZFP64 c.511+327G>A - IntronicSNV - 4/5
12-50270855-T-C FAIM2 c.802-6419A>G - IntronicSNV - 11/11
12-50603714-G-A LIMA1 c.631-3863C>T - IntronicSNV - 4/10
12-50774935-C-A FAM186A c.192+15141G>T - IntronicSNV - 1/7
12-50653975-T-G LIMA1 c.1-11441A>C - IntronicSNV - 1/10
12-50602734-G-A LIMA1 c.631-2883C>T - IntronicSNV - 4/10
12-50539419-T-C CERS5 c.198-1579A>G - IntronicSNV - 1/9
12-50602734-G-T LIMA1 c.631-2883C>A - IntronicSNV - 4/10
12-50647224-C-T LIMA1 c.1-4690G>A - IntronicSNV - 1/10
12-50770862-G-A FAM186A c.193-13715C>T - IntronicSNV - 1/7
19-14763856-T-A ADGRE3 c.578-1840A>T - IntronicSNV - 6/15
12-50513519-G-T COX14 c.1-308G>T - IntronicSNV - 1/1
12-50651629-G-A LIMA1 c.1-9095C>T - IntronicSNV - 1/10
12-50751708-T-C FAM186A c.584-1677A>G - IntronicSNV - 3/7
12-50752721-G-C FAM186A c.583+1818C>G - IntronicSNV - 3/7
12-50751708-T-A FAM186A c.584-1677A>T - IntronicSNV - 3/7
12-50636364-A-G LIMA1 c.119+6052T>C - IntronicSNV - 2/10
12-50780032-C-CC FAM186A c.192+10044_192+10044dup - IntronicInsertion - 1/7
12-50623658-G-A LIMA1 c.165+1790C>T - IntronicSNV - 3/10
12-50669011-G-A LIMA1 c.-24+8192C>T - intron_variant - 1/10
12-50559128-A-G CERS5 c.197+1756T>C - IntronicSNV - 1/9
19-14769339-C-G ADGRE3 c.379G>C p.Glu127Gln Missense 5/16 -
12-50668199-G-A LIMA1 c.-24+9004C>T - intron_variant - 1/10
12-50768869-G-A FAM186A c.193-11722C>T - IntronicSNV - 1/7
12-50744753-T-C FAM186A c.5862A>G p.Lys1954Lys Synonymous 4/8 -
12-50637295-T-C LIMA1 c.119+5121A>G - IntronicSNV - 2/10
20-50777026-A-G ZFP64 c.512-113T>C - IntronicSNV - 4/5
12-50570519-G-A LIMA1 c.*328C>T - 3-UTRSNV 11/11 -