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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 27683230 27683232 CTT > - TRNAN-GUU MAP3K6 NM_004672.3:c.3373_3375del
NP_004663.3:p.Lys1125del
143/6955 0.01028 4 in_frame_indel Likely Benign
View 1 27684750 27684750 G > A TRNAN-GUU MAP3K6 NM_004672.3:c.2837C>T
NP_004663.3:p.Pro946Leu
45/6955 0.00324 4 Likely Benign
View 1 27877117 27877117 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1510G>A
NP_001025053.1:p.Val504Met
22/6955 0.00158 4 non_synonymous Likely Benign
View 1 27877216 27877216 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1411G>A
NP_001025053.1:p.Val471Met
122/6955 0.00884 4 non_synonymous Likely Benign
View 1 27877392 27877392 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1235G>A
NP_001025053.1:p.Arg412His
78/6955 0.00561 4 non_synonymous Likely Benign
View 1 27877816 27877816 G > C TRNAN-GUU AHDC1 NM_001029882.2:c.811C>G
NP_001025053.1:p.Pro271Ala
7/6955 0.0005 3 non_synonymous Likely Benign
View 1 27878341 27878341 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.286C>T
NP_001025053.1:p.Arg96Cys
5/6955 0.00036 4 non_synonymous Likely Benign
View 1 27878527 27878527 T > G TRNAN-GUU AHDC1 NM_001029882.2:c.100A>C
NP_001025053.1:p.Thr34Pro
113/6955 0.00812 4 non_synonymous Likely Benign
View 1 33478877 33478877 C > T AK2 TRNAN-GUU AK2 AK2 AK2 AK2 NM_001625.3:c.625G>A
NM_001199199.1:c.601G>A
NM_013411.4:c.625G>A
NR_037591.1:n.826G>A
NR_037592.1:n.826G>A
NP_001616.1:p.Ala209Thr
NP_001186128.1:p.Ala201Thr
NP_037543.1:p.Ala209Thr
117/6955 0.00855 4 non_synonymous Likely Benign
View 1 38006337 38006337 C > T TRNAN-GUU SNIP1 NM_024700.3:c.347G>A
NP_078976.2:p.Arg116Gln
9/6955 0.00065 4 non_synonymous Likely Benign
View 1 40546065 40546065 T > C TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.318+4A>G
NM_000310.3:c.627+4A>G
8/8745 0.00051 4 five_prime_flank Likely Benign
View 1 40557075 40557075 C > T TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.125-1891G>A
NM_000310.3:c.363-4G>A
85/8745 0.00492 4 Likely Benign
View 1 43896217 43896217 G > A TRNAN-GUU SZT2 NM_015284.3:c.4360G>A
NP_056099.3:p.Val1454Ile
67/6955 0.00482 4 non_synonymous Likely Benign
View 1 43897114 43897114 A > G TRNAN-GUU SZT2 NM_015284.3:c.4854-17A>G
21/6916 0.00152 4 Common ExAC MAF original cat: TYPE_3 - three_prime_flank Likely Benign
View 1 43900858 43900858 C > G TRNAN-GUU SZT2 NM_015284.3:c.5734-13C>G
3/6916 0.00022 4 polypyrimidine_tract Likely Benign
View 1 43907225 43907225 T > C TRNAN-GUU SZT2 NM_015284.3:c.7391T>C
NP_056099.3:p.Val2464Ala
76/6955 0.00561 4 non_synonymous Likely Benign
View 1 43907236 43907236 G > A TRNAN-GUU SZT2 NM_015284.3:c.7402G>A
NP_056099.3:p.Val2468Ile
21/6955 0.00151 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 43916939 43916939 A > C HYI TRNAN-GUU HYI HYI SZT2 NM_001190880.2:c.804T>G
NM_031207.5:c.*42T>G
NM_001243526.1:c.*42T>G
NM_015284.3:c.*788A>C
NP_001177809.1:p.Asp268Glu
27/6916 0.00195 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 43917601 43917601 C > T HYI TRNAN-GUU HYI HYI SZT2 NM_001190880.2:c.505+5G>A
NM_031207.5:c.505+5G>A
NM_001243526.1:c.580+5G>A
NM_015284.3:c.*1450C>T
33/6916 0.00239 4 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Likely Benign
View 1 43919066 43919066 C > T HYI TRNAN-GUU HYI HYI SZT2 NM_001190880.2:c.302G>A
NM_031207.5:c.302G>A
NM_001243526.1:c.284+18G>A
NM_015284.3:c.*2915C>T
NP_001177809.1:p.Gly101Asp
NP_112484.3:p.Gly101Asp
5/6916 0.00036 4 non_synonymous Likely Benign
View 1 45345481 45345481 T > C EIF2B3 TRNAN-GUU EIF2B3 EIF2B3 NM_020365.4:c.975+9A>G
NM_001166588.2:c.975+9A>G
NM_001261418.1:c.975+9A>G
57/6955 0.0041 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 45799121 45799121 G > A TRNAN-GUU MUTYH MUTYH MUTYH MUTYH MUTYH MUTYH NM_001128425.1:c.312C>T
NM_001048171.1:c.270C>T
NM_012222.2:c.303C>T
NM_001048172.1:c.231C>T
NM_001048173.1:c.228C>T
NM_001048174.1:c.228C>T
NP_001121897.1:p.Tyr104=
NP_001041636.1:p.Tyr90=
NP_036354.1:p.Tyr101=
NP_001041637.1:p.Tyr77=
NP_001041638.1:p.Tyr76=
NP_001041639.1:p.Tyr76=
20/6955 0.00144 4 Likely Benign
View 1 45808982 45808982 G > A TRNAN-GUU TOE1 NM_025077.3:c.1141G>A
NP_079353.3:p.Glu381Lys
32/6916 0.00231 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 47746113 47746113 T > C STIL TRNAN-GUU STIL NM_001048166.1:c.2017A>G
NM_003035.2:c.2017A>G
NP_001041631.1:p.Ser673Gly
NP_003026.2:p.Ser673Gly
46/6955 0.00338 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 47746675 47746675 C > G STIL TRNAN-GUU STIL NM_001048166.1:c.1455G>C
NM_003035.2:c.1455G>C
NP_001041631.1:p.Leu485Phe
NP_003026.2:p.Leu485Phe
40/6955 0.00288 4 Likely Benign
View 1 47753301 47753301 C > T STIL TRNAN-GUU STIL NM_001048166.1:c.1055G>A
NM_003035.2:c.1055G>A
NP_001041631.1:p.Arg352His
NP_003026.2:p.Arg352His
14/6955 0.00101 3 non_synonymous Likely Benign
View 1 47767215 47767215 G > A STIL TRNAN-GUU STIL NM_001048166.1:c.453+18C>T
NM_003035.2:c.453+18C>T
61/6917 0.00455 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 52840559 52840559 C > T ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.2314G>A
NM_004153.3:c.2314G>A
NM_001190819.1:c.2299G>A
NP_001177747.1:p.Val772Ile
NP_004144.2:p.Val772Ile
NP_001177748.1:p.Val767Ile
71/6955 0.0051 4 non_synonymous Likely Benign
View 1 52867839 52867839 C > G ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.57G>C
NM_004153.3:c.57G>C
NM_001190819.1:c.57G>C
NP_001177747.1:p.Arg19Ser
NP_004144.2:p.Arg19Ser
NP_001177748.1:p.Arg19Ser
111/6955 0.00812 4 non_synonymous Likely Benign
View 1 61872217 61872217 C > - NFIA TRNAN-GUU NFIA NFIA NFIA NM_001145512.1:c.1390-5del
NM_005595.4:c.1255-5del
NM_001134673.3:c.1255-5del
NM_001145511.1:c.1231-5del
247/6916 0.01865 4 three_prime_flank Likely Benign
View 1 61872217 61872218 CC > - NFIA TRNAN-GUU NFIA NFIA NFIA NM_001145512.1:c.1390-6_1390-5del
NM_005595.4:c.1255-6_1255-5del
NM_001134673.3:c.1255-6_1255-5del
NM_001145511.1:c.1231-6_1231-5del
70/6916 0.00528 4 three_prime_flank Likely Benign
View 1 63063616 63063616 C > T DOCK7 TRNAN-GUU DOCK7 ANGPTL3 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1683-11321G>A
NM_001271999.1:c.1683-11321G>A
NM_014495.3:c.379C>T
NM_033407.3:c.1683-11321G>A
NM_001272002.1:c.1683-11321G>A
NM_001272001.1:c.1683-11321G>A
NP_055310.1:p.Leu127Phe
91/6956 0.00661 4 non_synonymous Likely Benign
View 1 63091086 63091086 A > - DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1283-14del
NM_001271999.1:c.1283-14del
NM_033407.3:c.1283-14del
NM_001272002.1:c.1283-14del
NM_001272001.1:c.1283-14del
108/6916 0.00788 4 polypyrimidine_tract Likely Benign
View 1 63877667 63877667 A > G TRNAN-GUU ALG6 NM_013339.3:c.751A>G
NP_037471.2:p.Thr251Ala
47/8745 0.00274 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 64089432 64089432 G > A PGM1 TRNAN-GUU PGM1 PGM1 NM_001172818.1:c.300+1G>A
NM_002633.2:c.247-5664G>A
NM_001172819.1:c.-345-5664G>A
135/6955 0.00978 4 donor_site Likely Benign
View 1 65830300 65830300 T > G TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 NM_001256864.1:c.194-18T>G
NM_001256865.1:c.-17-18T>G
NM_014787.3:c.23-18T>G
59/6916 0.00528 4 three_prime_flank Likely Benign
View 1 65855298 65855298 C > T TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 NM_001256864.1:c.1456C>T
NM_001256865.1:c.1246C>T
NM_014787.3:c.1285C>T
NP_001243793.1:p.Leu486Phe
NP_001243794.1:p.Leu416Phe
NP_055602.1:p.Leu429Phe
40/6955 0.00288 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 78392589 78392589 T > A TRNAN-GUU NEXN NEXN NM_001172309.1:c.672+12T>A
NM_144573.3:c.864+12T>A
27/6916 0.00195 4 five_prime_intronic Likely Benign
View 1 92762951 92762951 T > C TRNAN-GUU GLMN NM_053274.2:c.165+10A>G
43/6955 0.00309 4 five_prime_intronic Likely Benign
View 1 93303114 93303114 A > G TRNAN-GUU RPL5 FAM69A NM_000969.3:c.629A>G
NM_001252273.1:c.475-4523T>C
NP_000960.2:p.Tyr210Cys
91/6955 0.00654 4 non_synonymous Likely Benign
View 1 95538424 95538424 C > T TRNAN-GUU ALG14 NM_144988.3:c.31G>A
NP_659425.1:p.Ala11Thr
114/6955 0.00827 4 non_synonymous Likely Benign
View 1 98144726 98144726 T > C DPYD TRNAN-GUU ENST00000370192.3:c.775A>G
ENSP00000359211.3:p.Lys259Glu
104/9143 0.00585 4 Likely Benign
View 1 100343254 100343254 G > A AGL AGL TRNAN-GUU AGL AGL AGL AGL NM_000642.2:c.1481G>A
NM_000643.2:c.1481G>A
NM_000644.2:c.1481G>A
NM_000645.2:c.1430G>A
NM_000646.2:c.1433G>A
NM_000028.2:c.1481G>A
NP_000633.2:p.Arg494His
NP_000634.2:p.Arg494His
NP_000635.2:p.Arg494His
NP_000636.2:p.Arg477His
NP_000637.2:p.Arg478His
NP_000019.2:p.Arg494His
108/8745 0.00617 4 Likely Benign
View 1 100382236 100382236 C > G AGL AGL TRNAN-GUU AGL AGL AGL AGL NM_000642.2:c.4430C>G
NM_000643.2:c.4430C>G
NM_000644.2:c.4430C>G
NM_000645.2:c.4379C>G
NM_000646.2:c.4382C>G
NM_000028.2:c.4430C>G
NP_000633.2:p.Thr1477Ser
NP_000634.2:p.Thr1477Ser
NP_000635.2:p.Thr1477Ser
NP_000636.2:p.Thr1460Ser
NP_000637.2:p.Thr1461Ser
NP_000019.2:p.Thr1477Ser
31/8745 0.00177 3 non_synonymous Likely Benign
View 1 100671780 100671780 A > C TRNAN-GUU DBT ENST00000370132.4:c.1281+6T>G
189/8745 0.01189 4 five_prime_flank Likely Benign
View 1 103428196 103428196 A > G COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.3060+13T>C
NM_001854.3:c.3024+13T>C
NM_001190709.1:c.2907+13T>C
NM_080630.3:c.2676+13T>C
12/6916 0.00087 4 five_prime_intronic Likely Benign
View 1 103463928 103463929 - > A COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.2179-10dupT
NM_001854.3:c.2143-10dupT
NM_001190709.1:c.2026-10dupT
NM_080630.3:c.1795-10dupT
30/6955 0.00216 4 polypyrimidine_tract Likely Benign
View 1 103471460 103471462 CAT > - COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.1828-12_1828-10del
NM_001854.3:c.1792-12_1792-10del
NM_001190709.1:c.1675-12_1675-10del
NM_080630.3:c.1444-12_1444-10del
3373/6946 0.36719 4 polypyrimidine_tract Likely Benign
View 1 103544374 103544374 C > G COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.328G>C
NM_001854.3:c.328G>C
NM_001190709.1:c.328G>C
NM_080630.3:c.328G>C
NP_542196.2:p.Gly110Arg
NP_001845.3:p.Gly110Arg
NP_001177638.1:p.Gly110Arg
NP_542197.3:p.Gly110Arg
13/6955 0.00093 4 non_synonymous Likely Benign
View 1 109472327 109472327 C > T TRNAN-GUU CLCC1 GPSM2 CLCC1 CLCC1 CLCC1 NM_001278202.1:c.*2842G>A
NM_013296.4:c.1820C>T
NM_001278203.1:c.*2842G>A
NM_015127.4:c.*2842G>A
NM_001048210.2:c.*2842G>A
NP_037428.3:p.Ser607Phe
29/6955 0.00208 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
Displaying 50 through 100 of 2,465 variants