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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 | 27877216 | 27877216 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1411G>A |
NP_001025053.1:p.Val471Met |
110/6213 | 0.00893 | 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 |
66/6213 | 0.00531 | 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 |
6/6213 | 0.00048 | 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 |
4/6213 | 0.00032 | 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 |
100/6213 | 0.00805 | 4 | non_synonymous | Likely Benign |
| View | 1 | 33478877 | 33478877 | C > T | TRNAN-GUU AK2 AK2 AK2 AK2 AK2 |
NR_037591.1:n.826G>A NM_001625.3:c.625G>A NM_013411.4:c.625G>A NM_001199199.1:c.601G>A NR_037592.1:n.826G>A |
NP_001616.1:p.Ala209Thr NP_037543.1:p.Ala209Thr NP_001186128.1:p.Ala201Thr |
109/6213 | 0.00893 | 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 |
7/6213 | 0.00056 | 4 | non_synonymous | Likely Benign |
| View | 1 | 40546065 | 40546065 | T > C | TRNAN-GUU PPT1 PPT1 |
NM_000310.3:c.627+4A>G NM_001142604.1:c.318+4A>G |
8/8004 | 0.00056 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 40557075 | 40557075 | C > T | TRNAN-GUU PPT1 PPT1 |
NM_000310.3:c.363-4G>A NM_001142604.1:c.125-1891G>A |
64/8004 | 0.00406 | 4 | Likely Benign | ||
| View | 1 | 43896217 | 43896217 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.4360G>A |
NP_056099.3:p.Val1454Ile |
62/6213 | 0.00499 | 4 | non_synonymous | Likely Benign |
| View | 1 | 43897114 | 43897114 | A > G | TRNAN-GUU SZT2 |
NM_015284.3:c.4854-17A>G |
17/6174 | 0.00138 | 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 |
3/6174 | 0.00024 | 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 |
71/6213 | 0.00587 | 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 |
17/6213 | 0.00137 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 43916939 | 43916939 | A > C | TRNAN-GUU SZT2 HYI HYI HYI |
NM_015284.3:c.*788A>C NM_001190880.2:c.804T>G NM_001243526.1:c.*42T>G NM_031207.5:c.*42T>G |
NP_001177809.1:p.Asp268Glu |
20/6174 | 0.00162 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 43917601 | 43917601 | C > T | TRNAN-GUU SZT2 HYI HYI HYI |
NM_015284.3:c.*1450C>T NM_001190880.2:c.505+5G>A NM_001243526.1:c.580+5G>A NM_031207.5:c.505+5G>A |
28/6174 | 0.00227 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_flank | Likely Benign | |
| View | 1 | 43919066 | 43919066 | C > T | TRNAN-GUU SZT2 HYI HYI HYI |
NM_015284.3:c.*2915C>T NM_001190880.2:c.302G>A NM_001243526.1:c.284+18G>A NM_031207.5:c.302G>A |
NP_001177809.1:p.Gly101Asp NP_112484.3:p.Gly101Asp |
5/6174 | 0.0004 | 4 | non_synonymous | Likely Benign |
| View | 1 | 45345481 | 45345481 | T > C | TRNAN-GUU EIF2B3 EIF2B3 EIF2B3 |
NM_020365.4:c.975+9A>G NM_001166588.2:c.975+9A>G NM_001261418.1:c.975+9A>G |
45/6213 | 0.00362 | 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_001048171.1:c.270C>T NM_001048174.1:c.228C>T NM_001128425.1:c.312C>T NM_001048172.1:c.231C>T NM_001048173.1:c.228C>T NM_012222.2:c.303C>T |
NP_001041636.1:p.Tyr90= NP_001041639.1:p.Tyr76= NP_001121897.1:p.Tyr104= NP_001041637.1:p.Tyr77= NP_001041638.1:p.Tyr76= NP_036354.1:p.Tyr101= |
18/6213 | 0.00145 | 4 | Likely Benign | |
| View | 1 | 45808982 | 45808982 | G > A | TRNAN-GUU TOE1 |
NM_025077.3:c.1141G>A |
NP_079353.3:p.Glu381Lys |
28/6174 | 0.00227 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 47746113 | 47746113 | T > C | TRNAN-GUU STIL STIL |
NM_001048166.1:c.2017A>G NM_003035.2:c.2017A>G |
NP_001041631.1:p.Ser673Gly NP_003026.2:p.Ser673Gly |
43/6213 | 0.00354 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 47746675 | 47746675 | C > G | TRNAN-GUU STIL STIL |
NM_001048166.1:c.1455G>C NM_003035.2:c.1455G>C |
NP_001041631.1:p.Leu485Phe NP_003026.2:p.Leu485Phe |
35/6213 | 0.00282 | 4 | Likely Benign | |
| View | 1 | 47753301 | 47753301 | C > T | TRNAN-GUU STIL STIL |
NM_001048166.1:c.1055G>A NM_003035.2:c.1055G>A |
NP_001041631.1:p.Arg352His NP_003026.2:p.Arg352His |
12/6213 | 0.00097 | 3 | non_synonymous | Likely Benign |
| View | 1 | 47767215 | 47767215 | G > A | TRNAN-GUU STIL STIL |
NM_001048166.1:c.453+18C>T NM_003035.2:c.453+18C>T |
53/6175 | 0.00445 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |
| View | 1 | 52840559 | 52840559 | C > T | ORC1 ORC1 TRNAN-GUU ORC1 |
NM_001190819.1:c.2299G>A NM_001190818.1:c.2314G>A NM_004153.3:c.2314G>A |
NP_001177748.1:p.Val767Ile NP_001177747.1:p.Val772Ile NP_004144.2:p.Val772Ile |
57/6213 | 0.00459 | 4 | non_synonymous | Likely Benign |
| View | 1 | 52867839 | 52867839 | C > G | ORC1 ORC1 TRNAN-GUU ORC1 |
NM_001190819.1:c.57G>C NM_001190818.1:c.57G>C NM_004153.3:c.57G>C |
NP_001177748.1:p.Arg19Ser NP_001177747.1:p.Arg19Ser NP_004144.2:p.Arg19Ser |
102/6213 | 0.00837 | 4 | non_synonymous | Likely Benign |
| View | 1 | 61872217 | 61872217 | C > - | TRNAN-GUU NFIA NFIA NFIA NFIA |
NM_001145511.1:c.1231-5del NM_005595.4:c.1255-5del NM_001145512.1:c.1390-5del NM_001134673.3:c.1255-5del |
170/6174 | 0.01401 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 61872217 | 61872218 | CC > - | TRNAN-GUU NFIA NFIA NFIA NFIA |
NM_001145511.1:c.1231-6_1231-5del NM_005595.4:c.1255-6_1255-5del NM_001145512.1:c.1390-6_1390-5del NM_001134673.3:c.1255-6_1255-5del |
38/6174 | 0.00316 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 63063616 | 63063616 | C > T | TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 ANGPTL3 DOCK7 |
NM_033407.3:c.1683-11321G>A NM_001272000.1:c.1683-11321G>A NM_001271999.1:c.1683-11321G>A NM_001272001.1:c.1683-11321G>A NM_014495.3:c.379C>T NM_001272002.1:c.1683-11321G>A |
NP_055310.1:p.Leu127Phe |
82/6214 | 0.00668 | 4 | non_synonymous | Likely Benign |
| View | 1 | 63091086 | 63091086 | A > - | TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 DOCK7 |
NM_033407.3:c.1283-14del NM_001272000.1:c.1283-14del NM_001271999.1:c.1283-14del NM_001272001.1:c.1283-14del NM_001272002.1:c.1283-14del |
91/6174 | 0.00745 | 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 |
42/8004 | 0.00269 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 64089432 | 64089432 | G > A | PGM1 TRNAN-GUU PGM1 PGM1 |
NM_002633.2:c.247-5664G>A NM_001172819.1:c.-345-5664G>A NM_001172818.1:c.300+1G>A |
111/6213 | 0.00901 | 4 | donor_site | Likely Benign | |
| View | 1 | 65830300 | 65830300 | T > G | TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 |
NM_014787.3:c.23-18T>G NM_001256865.1:c.-17-18T>G NM_001256864.1:c.194-18T>G |
57/6174 | 0.00575 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 65855298 | 65855298 | C > T | TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 |
NM_014787.3:c.1285C>T NM_001256865.1:c.1246C>T NM_001256864.1:c.1456C>T |
NP_055602.1:p.Leu429Phe NP_001243794.1:p.Leu416Phe NP_001243793.1:p.Leu486Phe |
34/6213 | 0.00274 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 92762951 | 92762951 | T > C | TRNAN-GUU GLMN |
NM_053274.2:c.165+10A>G |
38/6213 | 0.00306 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 93303114 | 93303114 | A > G | TRNAN-GUU FAM69A RPL5 |
NM_001252273.1:c.475-4523T>C NM_000969.3:c.629A>G |
NP_000960.2:p.Tyr210Cys |
81/6213 | 0.00652 | 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 |
103/6213 | 0.00837 | 4 | non_synonymous | Likely Benign |
| View | 1 | 98144726 | 98144726 | T > C | TRNAN-GUU DPYD |
ENST00000370192.3:c.775A>G |
ENSP00000359211.3:p.Lys259Glu |
97/8412 | 0.00594 | 4 | Likely Benign | |
| View | 1 | 100343254 | 100343254 | G > A | AGL TRNAN-GUU AGL AGL AGL AGL AGL |
NM_000642.2:c.1481G>A NM_000644.2:c.1481G>A NM_000646.2:c.1433G>A NM_000645.2:c.1430G>A NM_000643.2:c.1481G>A NM_000028.2:c.1481G>A |
NP_000633.2:p.Arg494His NP_000635.2:p.Arg494His NP_000637.2:p.Arg478His NP_000636.2:p.Arg477His NP_000634.2:p.Arg494His NP_000019.2:p.Arg494His |
103/8004 | 0.00643 | 4 | Likely Benign | |
| View | 1 | 100382236 | 100382236 | C > G | AGL TRNAN-GUU AGL AGL AGL AGL AGL |
NM_000642.2:c.4430C>G NM_000644.2:c.4430C>G NM_000646.2:c.4382C>G NM_000645.2:c.4379C>G NM_000643.2:c.4430C>G NM_000028.2:c.4430C>G |
NP_000633.2:p.Thr1477Ser NP_000635.2:p.Thr1477Ser NP_000637.2:p.Thr1461Ser NP_000636.2:p.Thr1460Ser NP_000634.2:p.Thr1477Ser NP_000019.2:p.Thr1477Ser |
25/8004 | 0.00156 | 3 | non_synonymous | Likely Benign |
| View | 1 | 100671780 | 100671780 | A > C | TRNAN-GUU DBT |
ENST00000370132.4:c.1281+6T>G |
164/8004 | 0.01118 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 103428196 | 103428196 | A > G | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_001190709.1:c.2907+13T>C NM_080629.2:c.3060+13T>C NM_080630.3:c.2676+13T>C NM_001854.3:c.3024+13T>C |
12/6174 | 0.00097 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 103463928 | 103463929 | - > A | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_001190709.1:c.2026-10dupT NM_080629.2:c.2179-10dupT NM_080630.3:c.1795-10dupT NM_001854.3:c.2143-10dupT |
29/6213 | 0.00233 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 103544374 | 103544374 | C > G | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_001190709.1:c.328G>C NM_080629.2:c.328G>C NM_080630.3:c.328G>C NM_001854.3:c.328G>C |
NP_001177638.1:p.Gly110Arg NP_542196.2:p.Gly110Arg NP_542197.3:p.Gly110Arg NP_001845.3:p.Gly110Arg |
12/6213 | 0.00097 | 4 | non_synonymous | Likely Benign |
| View | 1 | 109472327 | 109472327 | C > T | TRNAN-GUU CLCC1 CLCC1 CLCC1 GPSM2 CLCC1 |
NM_001048210.2:c.*2842G>A NM_001278202.1:c.*2842G>A NM_001278203.1:c.*2842G>A NM_013296.4:c.1820C>T NM_015127.4:c.*2842G>A |
NP_037428.3:p.Ser607Phe |
23/6213 | 0.00185 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 110740918 | 110740918 | A > G | TRNAN-GUU SLC6A17 |
NM_001010898.2:c.2036A>G |
NP_001010898.1:p.Lys679Arg |
66/6213 | 0.00531 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 114380740 | 114380741 | - > ATT | PTPN22 TRNAN-GUU PTPN22 |
ENST00000359785.5:c.1279_1281dupAAT ENST00000528414.1:c.1114_1116dupAAT |
ENSP00000352833.5:p.Asn427dup ENSP00000435176.1:p.Asn372dup |
10/6213 | 0.0008 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 114438448 | 114438448 | T > C | AP4B1 TRNAN-GUU AP4B1 AP4B1-AS1 AP4B1 |
NM_001253852.1:c.1723A>G NM_001253853.1:c.1426A>G NR_037864.1:n.247-2042T>C NM_006594.3:c.1723A>G |
NP_001240781.1:p.Ile575Val NP_001240782.1:p.Ile476Val NP_006585.2:p.Ile575Val |
67/6213 | 0.00539 | 4 | non_synonymous | Likely Benign |
| View | 1 | 114445358 | 114445358 | T > C | AP4B1 TRNAN-GUU AP4B1 AP4B1 |
NM_001253852.1:c.240A>G NM_001253853.1:c.-56-2A>G NM_006594.3:c.240A>G |
NP_001240781.1:p.Pro80= NP_006585.2:p.Pro80= |
31/6214 | 0.00257 | 4 | acceptor_site | Likely Benign |
| View | 1 | 115226990 | 115226991 | - > A | TRNAN-GUU AMPD1 AMPD1 |
NM_000036.2:c.481-6dupT NM_001172626.1:c.469-6dupT |
97/6213 | 0.00781 | 4 | polypyrimidine_tract | Likely Benign |