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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 27100369 27100369 A > G ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4081A>G
NM_006015.4:c.4081A>G
NP_624361.1:p.Met1361Val
NP_006006.3:p.Met1361Val
5/8685 0.00029 4 non_synonymous Likely Benign
View 1 27105617 27105617 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4577C>T
NM_006015.4:c.5228C>T
NP_624361.1:p.Thr1526Met
NP_006006.3:p.Thr1743Met
4/8685 0.00023 4 non_synonymous Likely Benign
View 1 27105700 27105700 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4660C>T
NM_006015.4:c.5311C>T
NP_624361.1:p.Pro1554Ser
NP_006006.3:p.Pro1771Ser
2/8685 0.00012 4 non_synonymous Likely Benign
View 1 27106106 27106106 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.5066G>A
NM_006015.4:c.5717G>A
NP_624361.1:p.Arg1689Gln
NP_006006.3:p.Arg1906Gln
50/8685 0.00288 4 non_synonymous Likely Benign
View 1 27106333 27106333 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.5293G>A
NM_006015.4:c.5944G>A
NP_624361.1:p.Val1765Ile
NP_006006.3:p.Val1982Ile
4/8685 0.00023 4 Likely Benign
View 1 27121140 27121140 C > T PIGV TRNAN-GUU PIGV NM_001202554.1:c.615C>T
NM_017837.3:c.615C>T
NP_001189483.1:p.Asn205=
NP_060307.2:p.Asn205=
41/8685 0.00236 4 Likely Benign
View 1 27124222 27124222 C > T PIGV TRNAN-GUU PIGV NM_001202554.1:c.1369C>T
NM_017837.3:c.1369C>T
NP_001189483.1:p.Leu457Phe
NP_060307.2:p.Leu457Phe
6/8685 0.00035 4 Likely Benign
View 1 27683230 27683232 CTT > - TRNAN-GUU MAP3K6 NM_004672.3:c.3373_3375del
NP_004663.3:p.Lys1125del
171/8685 0.00984 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
57/8685 0.00328 4 Likely Benign
View 1 27875626 27875626 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.3001G>A
NP_001025053.1:p.Ala1001Thr
2/8685 0.00012 4 non_synonymous Likely Benign
View 1 27877117 27877117 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1510G>A
NP_001025053.1:p.Val504Met
36/8685 0.00207 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
146/8685 0.00846 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
95/8685 0.00547 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
7/8685 0.0004 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
11/8685 0.00063 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
113/8685 0.00651 4 non_synonymous Likely Benign
View 1 29527028 29527028 G > A TRNAN-GUU MECR MECR NM_016011.2:c.830C>T
NM_001024732.1:c.602C>T
NP_057095.2:p.Ala277Val
NP_001019903.1:p.Ala201Val
102/8646 0.00596 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
157/8685 0.00915 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
10/8685 0.00058 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
8/10521 0.00043 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
109/10521 0.00528 4 Likely Benign
View 1 43395555 43395555 C > T TRNAN-GUU SLC2A1 NM_006516.2:c.668G>A
NP_006507.2:p.Arg223Gln
2/8685 0.00012 4 Likely Benign
View 1 43396718 43396718 G > T TRNAN-GUU SLC2A1 NM_006516.2:c.274C>A
NP_006507.2:p.Arg92=
2/8685 0.00017 4 Likely Benign
View 1 43896217 43896217 G > A TRNAN-GUU SZT2 NM_015284.3:c.4360G>A
NP_056099.3:p.Val1454Ile
82/8685 0.00472 4 non_synonymous Likely Benign
View 1 43897114 43897114 A > G TRNAN-GUU SZT2 NM_015284.3:c.4854-17A>G
36/8646 0.00208 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
3/8646 0.00017 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
92/8685 0.00541 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
34/8685 0.00196 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
42/8646 0.00243 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
40/8646 0.00231 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
10/8646 0.00058 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
73/8685 0.0042 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=
24/8685 0.00138 4 Likely Benign
View 1 45808982 45808982 G > A TRNAN-GUU TOE1 NM_025077.3:c.1141G>A
NP_079353.3:p.Glu381Lys
44/8646 0.00254 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
63/8685 0.00374 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
43/8685 0.00248 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
22/8685 0.00127 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
80/8647 0.0048 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
93/8685 0.00535 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
127/8685 0.00743 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
452/8646 0.02706 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
180/8646 0.01093 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
113/8686 0.00656 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
126/8646 0.00734 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
54/10521 0.00266 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
185/8685 0.01071 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
66/8646 0.00463 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
58/8685 0.00334 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
37/8646 0.00214 4 five_prime_intronic Likely Benign
View 1 92762951 92762951 T > C TRNAN-GUU GLMN NM_053274.2:c.165+10A>G
53/8685 0.00305 4 five_prime_intronic Likely Benign
Displaying 50 through 100 of 2,719 variants