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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 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
Displaying 50 through 100 of 3,378 variants