Download: Excel
| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 1 | 24123348 | 24123348 | C > T | GALE TRNAN-GUU GALE GALE |
NM_001008216.1:c.709+18G>A NM_000403.3:c.709+18G>A NM_001127621.1:c.709+18G>A |
50/11948 | 0.00213 | 4 | curation | Likely Benign | |
| View | 1 | 24181041 | 24181041 | C > T | TRNAN-GUU FUCA1 |
NM_000147.4:c.778G>A |
NP_000138.2:p.Val260Ile |
19/14969 | 0.00063 | 4 | curation | Likely Benign |
| View | 1 | 24194770 | 24194770 | C > G | TRNAN-GUU FUCA1 |
NM_000147.4:c.7G>C |
NP_000138.2:p.Ala3Pro |
347/14969 | 0.01192 | 4 | curation | Likely Benign |
| View | 1 | 24687371 | 24687371 | C > T | STPG1 STPG1 STPG1 GRHL3 TRNAN-GUU STPG1 |
NM_001199013.1:c.898G>A NM_001199012.1:c.898G>A NM_178122.4:c.757G>A NM_198174.2:c.1695-3304C>T NM_001199014.1:c.622G>A |
NP_001185942.1:p.Ala300Thr NP_001185941.1:p.Ala300Thr NP_835223.1:p.Ala253Thr NP_001185943.1:p.Ala208Thr |
167/13105 | 0.00645 | 4 | curation | Likely Benign |
| View | 1 | 27023008 | 27023013 | GGCGGC > - | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.123_128del NM_006015.4:c.123_128del |
NP_624361.1:p.Ala44_Ala45del NP_006006.3:p.Ala44_Ala45del |
2/13144 | 8.0e-05 | 4 | curation | Likely Benign |
| View | 1 | 27023366 | 27023366 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.472C>T NM_006015.4:c.472C>T |
NP_624361.1:p.Pro158Ser NP_006006.3:p.Pro158Ser |
44/13144 | 0.00175 | 4 | curation | Likely Benign |
| View | 1 | 27023759 | 27023759 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.865C>T NM_006015.4:c.865C>T |
NP_624361.1:p.Pro289Ser NP_006006.3:p.Pro289Ser |
5/13144 | 0.00019 | 4 | curation | Likely Benign |
| View | 1 | 27087500 | 27087500 | A > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.2074A>G NM_006015.4:c.2074A>G |
NP_624361.1:p.Ile692Val NP_006006.3:p.Ile692Val |
5/13144 | 0.00019 | 4 | curation | Likely Benign |
| View | 1 | 27100171 | 27100171 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.3967C>T NM_006015.4:c.3967C>T |
NP_624361.1:p.Arg1323Cys NP_006006.3:p.Arg1323Cys |
3/13144 | 0.00011 | 4 | curation | Likely Benign |
| View | 1 | 27100181 | 27100182 | - > GCA | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.3999_4001dupGCA NM_006015.4:c.3999_4001dupGCA |
NP_624361.1:p.Gln1334dup NP_006006.3:p.Gln1334dup |
45/13144 | 0.00175 | 4 | curation | Likely Benign |
| 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 |
5/13144 | 0.00019 | 4 | curation | Likely Benign |
| View | 1 | 27101396 | 27101396 | C > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4102-75C>G NM_006015.4:c.4678C>G |
NP_006006.3:p.Pro1560Ala |
2/13144 | 8.0e-05 | 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 |
4/13144 | 0.00015 | 4 | curation | 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 |
2/13144 | 8.0e-05 | 4 | curation | Likely Benign |
| View | 1 | 27105838 | 27105838 | G > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4798G>A NM_006015.4:c.5449G>A |
NP_624361.1:p.Val1600Ile NP_006006.3:p.Val1817Ile |
12/13144 | 0.00046 | 4 | curation | 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 |
76/13144 | 0.00289 | 4 | curation | 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 |
6/13144 | 0.00023 | 4 | curation | 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= |
67/13144 | 0.00255 | 4 | curation | 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 |
10/13144 | 0.00038 | 4 | curation | Likely Benign |
| View | 1 | 27683230 | 27683232 | CTT > - | TRNAN-GUU MAP3K6 |
NM_004672.3:c.3373_3375del |
NP_004663.3:p.Lys1125del |
287/13144 | 0.01092 | 4 | curation | Likely Benign |
| View | 1 | 27684750 | 27684750 | G > A | TRNAN-GUU MAP3K6 |
NM_004672.3:c.2837C>T |
NP_004663.3:p.Pro946Leu |
91/13144 | 0.00346 | 4 | curation | Likely Benign |
| View | 1 | 27875626 | 27875626 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.3001G>A |
NP_001025053.1:p.Ala1001Thr |
2/13144 | 8.0e-05 | 4 | curation | Likely Benign |
| View | 1 | 27877117 | 27877117 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1510G>A |
NP_001025053.1:p.Val504Met |
64/13144 | 0.00243 | 4 | curation | Likely Benign |
| View | 1 | 27877216 | 27877216 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1411G>A |
NP_001025053.1:p.Val471Met |
211/13144 | 0.00806 | 4 | curation | Likely Benign |
| View | 1 | 27877392 | 27877392 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1235G>A |
NP_001025053.1:p.Arg412His |
144/13144 | 0.00552 | 4 | curation | Likely Benign |
| View | 1 | 27877816 | 27877816 | G > C | TRNAN-GUU AHDC1 |
NM_001029882.2:c.811C>G |
NP_001025053.1:p.Pro271Ala |
16/13144 | 0.00061 | 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 |
19/13144 | 0.00072 | 4 | curation | Likely Benign |
| View | 1 | 27878527 | 27878527 | T > G | TRNAN-GUU AHDC1 |
NM_001029882.2:c.100A>C |
NP_001025053.1:p.Thr34Pro |
112/13144 | 0.0043 | 4 | curation | 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 |
171/13105 | 0.00656 | 4 | curation | 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 |
251/13144 | 0.00959 | 4 | curation | Likely Benign |
| View | 1 | 38006337 | 38006337 | C > T | TRNAN-GUU SNIP1 |
NM_024700.3:c.347G>A |
NP_078976.2:p.Arg116Gln |
19/13144 | 0.00072 | 4 | curation | 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 |
10/13810 | 0.0004 | 4 | curation | 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 |
156/13824 | 0.00571 | 4 | curation | Likely Benign | |
| View | 1 | 43395555 | 43395555 | C > T | TRNAN-GUU SLC2A1 |
NM_006516.2:c.668G>A |
NP_006507.2:p.Arg223Gln |
2/13144 | 8.0e-05 | 4 | curation | Likely Benign |
| View | 1 | 43396718 | 43396718 | G > T | TRNAN-GUU SLC2A1 |
NM_006516.2:c.274C>A |
NP_006507.2:p.Arg92= |
2/13144 | 0.00011 | 4 | curation | Likely Benign |
| View | 1 | 43896217 | 43896217 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.4360G>A |
NP_056099.3:p.Val1454Ile |
131/13144 | 0.00498 | 4 | curation | Likely Benign |
| View | 1 | 43897114 | 43897114 | A > G | TRNAN-GUU SZT2 |
NM_015284.3:c.4854-17A>G |
45/11949 | 0.00192 | 4 | curation | Likely Benign | |
| View | 1 | 43900858 | 43900858 | C > G | TRNAN-GUU SZT2 |
NM_015284.3:c.5734-13C>G |
6/11944 | 0.00025 | 4 | curation | Likely Benign | |
| View | 1 | 43907225 | 43907225 | T > C | TRNAN-GUU SZT2 |
NM_015284.3:c.7391T>C |
NP_056099.3:p.Val2464Ala |
131/13144 | 0.0051 | 4 | curation | Likely Benign |
| View | 1 | 43907236 | 43907236 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.7402G>A |
NP_056099.3:p.Val2468Ile |
43/13144 | 0.00167 | 4 | curation | 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 |
50/13105 | 0.00195 | 4 | curation | 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 |
62/11953 | 0.00259 | 4 | curation | 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 |
25/13105 | 0.00095 | 4 | curation | 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 |
122/12002 | 0.00508 | 4 | curation | 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= |
35/13144 | 0.00133 | 4 | curation | Likely Benign |
| View | 1 | 45808982 | 45808982 | G > A | TRNAN-GUU TOE1 |
NM_025077.3:c.1141G>A |
NP_079353.3:p.Glu381Lys |
58/13105 | 0.00221 | 4 | curation | 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 |
94/13144 | 0.00373 | 4 | curation | 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 |
72/13144 | 0.00274 | 4 | curation | 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 |
35/13144 | 0.00137 | 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 |
107/11953 | 0.00464 | 4 | curation | Likely Benign |