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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 |