regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMBT1_chr10_122555754_122648736 | 122570156 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(197): Show |
a0001a0003a0004others(59): Show | a0001c0001a0001c0004a0001c0027others(76): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(88): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(188): Show | 200 | 282 | 0.7092 | 0 | c.92- others(4): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 2/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122570157 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(197): Show |
a0001a0003a0004others(59): Show | a0001c0001a0001c0004a0001c0027others(76): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(88): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(188): Show | 200 | 282 | 0.7092 | 0 | c.92- others(4): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 2/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122570943 | G | A | splice_region_variant others(1): Show |
LOW | HG00673.hp1 HG02027.hp1 HG02129.hp2 others(19): Show |
a0002a0049a0050others(1): Show | a0002c0002a0002c0095a0002c0099others(3): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(3): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(17): Show | 22 | 282 | 0.0780 | 0 | c.187 others(5): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 4/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122582597 | T | C | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0087 | a0087c0085 | a0087c0085t0001 | a0087c0085t0001g0086 | 1 | 282 | 0.0036 | 0 | c.106 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 12/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122582600 | G | T | missense_variant others(1): Show |
MODERATE | HG02922.hp2 | a0087 | a0087c0085 | a0087c0085t0001 | a0087c0085t0001g0086 | 1 | 282 | 0.0036 | 0 | c.106 others(4): Show |
p.Gly others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 13/56 | 1084/7984 | 1067/7629 | 356/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122582602 | C | T | missense_variant others(1): Show |
MODERATE | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(41): Show |
a0002a0007a0018others(12): Show | a0002c0002a0002c0095a0002c0099others(15): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(15): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(38): Show | 44 | 282 | 0.1560 | 0 | c.106 others(4): Show |
p.Pro others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 13/56 | 1086/7984 | 1069/7629 | 357/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122585316 | A | T | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0087 | a0087c0085 | a0087c0085t0001 | a0087c0085t0001g0086 | 1 | 282 | 0.0036 | 0 | c.145 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122593598 | G | A | missense_variant others(1): Show |
MODERATE | HG03453.hp1 | a0081 | a0081c0058 | a0081c0058t0003 | a0081c0058t0003g0116 | 1 | 282 | 0.0036 | 0 | c.253 others(4): Show |
p.Asp others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 21/56 | 2547/7984 | 2530/7629 | 844/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122595305 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0002a0004others(58): Show | a0001c0001a0001c0004a0001c0027others(76): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(86): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(186): Show | 200 | 282 | 0.7092 | 0 | c.256 others(4): Show |
p.Pro others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 23/56 | 2583/7984 | 2566/7629 | 856/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122597059 | G | GA | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00673.hp1 others(58): Show |
a0002a0007a0015others(18): Show | a0002c0002a0002c0095a0002c0099others(22): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(23): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(53): Show | 61 | 282 | 0.2163 | 1 | c.291 others(14): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 24/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122597060 | T | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00673.hp1 others(58): Show |
a0002a0007a0015others(18): Show | a0002c0002a0002c0095a0002c0099others(22): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(23): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(53): Show | 61 | 282 | 0.2163 | 0 | c.291 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 24/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122597061 | C | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00673.hp1 others(58): Show |
a0002a0007a0015others(18): Show | a0002c0002a0002c0095a0002c0099others(22): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(23): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(53): Show | 61 | 282 | 0.2163 | 0 | c.291 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 24/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122598020 | T | A | splice_region_variant others(1): Show |
LOW | HG00673.hp1 HG02027.hp1 HG02129.hp2 others(19): Show |
a0002a0049a0050others(1): Show | a0002c0002a0002c0095a0002c0099others(3): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(3): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(17): Show | 22 | 282 | 0.0780 | 0 | c.295 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 25/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122599105 | T | C | splice_region_variant others(1): Show |
LOW | HG02738.hp1 HG03017.hp1 HG04184.hp2 others(2): Show |
a0015 | a0015c0014a0015c0044 | a0015c0014t0001a0015c0044t0002 | a0015c0014t0001g0087a0015c0014t0001g0089a0015c0014t0001g0112others(2): Show | 5 | 282 | 0.0177 | 0 | c.328 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 26/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122600064 | C | T | missense_variant others(1): Show |
MODERATE | NA18989.hp2 | a0051 | a0051c0098 | a0051c0098t0002 | a0051c0098t0002g0024 | 1 | 282 | 0.0036 | 0 | c.328 others(4): Show |
p.Ala others(7): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 27/56 | 3298/7984 | 3281/7629 | 1094/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122600066 | T | C | missense_variant others(1): Show |
MODERATE | HG00738.hp2 HG00741.hp2 HG01106.hp2 others(26): Show |
a0004a0018a0023others(7): Show | a0004c0003a0004c0082a0018c0020others(8): Show | a0004c0003t0001a0004c0003t0003a0004c0003t0004others(11): Show | a0004c0003t0001g0123a0004c0003t0001g0148a0004c0003t0003g0009others(23): Show | 29 | 282 | 0.1028 | 0 | c.328 others(4): Show |
p.Ser others(7): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 27/56 | 3300/7984 | 3283/7629 | 1095/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122600096 | G | A | splice_region_variant others(1): Show |
LOW | HG00738.hp2 HG00741.hp2 HG01106.hp2 others(26): Show |
a0004a0018a0023others(7): Show | a0004c0003a0004c0082a0018c0020others(8): Show | a0004c0003t0001a0004c0003t0003a0004c0003t0004others(11): Show | a0004c0003t0001g0123a0004c0003t0001g0148a0004c0003t0003g0009others(23): Show | 29 | 282 | 0.1028 | 0 | c.331 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 27/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122600992 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 | a0040 | a0040c0093 | a0040c0093t0001 | a0040c0093t0001g0048 | 1 | 282 | 0.0036 | 0 | c.331 others(4): Show |
p.Asp others(7): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 28/56 | 3329/7984 | 3312/7629 | 1104/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122617229 | C | T | splice_region_variant others(1): Show |
LOW | NA19090.hp2 | a0005 | a0005c0066 | a0005c0066t0002 | a0005c0066t0002g0216 | 1 | 282 | 0.0036 | 0 | c.486 others(4): Show |
p.Asp others(7): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 40/56 | 4877/7984 | 4860/7629 | 1620/2542 | chr10 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122617266 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 NA19240.hp2 |
a0076a0080 | a0076c0065a0080c0063 | a0076c0065t0001a0080c0063t0002 | a0076c0065t0001g0129a0080c0063t0002g0174 | 2 | 282 | 0.0071 | 0 | c.489 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 40/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122619304 | A | G | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG02723.hp1 HG03225.hp2 others(1): Show |
a0018a0073 | a0018c0020a0073c0054 | a0018c0020t0002a0073c0054t0001 | a0018c0020t0002g0051a0018c0020t0002g0052a0018c0020t0002g0053others(1): Show | 4 | 282 | 0.0142 | 0 | c.521 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 41/55 | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31875190 | T | G | missense_variant others(1): Show |
MODERATE | HG00642.hp1 HG00738.hp1 HG01099.hp1 others(24): Show |
a0004a0005a0008others(5): Show | a0004c0004a0004c0011a0004c0055others(11): Show | a0004c0004t0001a0004c0004t0002a0004c0011t0001others(16): Show | a0004c0004t0001g0006a0004c0004t0001g0041a0004c0004t0001g0064others(24): Show | 27 | 126 | 0.2143 | 0 | c.709 others(4): Show |
p.Lys others(7): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/79 | 7333/13992 | 7096/11058 | 2366/3685 | chrX | TogoVar | ||
DMD_chrX_31114222_33216549 | 32454654 | T | C | splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 0 | c.360 others(6): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32491521 | A | G | splice_region_variant others(1): Show |
LOW | HG00609.hp1 NA19066.hp1 |
a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0052a0007c0019t0001g0061 | 2 | 126 | 0.0159 | 0 | c.238 others(6): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 19/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79031002 | A | T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0066 | 1 | 372 | 0.0027 | 0 | c.151 others(6): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 9/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79055915 | A | C | splice_region_variant others(1): Show |
LOW | HG02970.hp2 NA21309.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0247a0004c0005t0001g0248 | 2 | 372 | 0.0054 | 0 | c.277 others(5): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45771064 | G | A | splice_region_variant others(1): Show |
LOW | HG02071.hp2 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0107a0001c0001t0018g0108 | 2 | 416 | 0.0048 | 0 | c.164 others(6): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 13/14 | chr19 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45777659 | G | A | splice_region_variant others(1): Show |
LOW | HG01361.hp1 HG01496.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0038 | a0001c0001t0002g0131a0001c0001t0003g0132a0001c0001t0038g0133 | 3 | 416 | 0.0072 | 0 | c.882 others(5): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 7/14 | chr19 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45778487 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(283): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0002g0013others(112): Show | 286 | 416 | 0.6875 | 0 | c.581 others(5): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 5/14 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 846952 | G | C | splice_region_variant others(1): Show |
LOW | HG02280.hp2 HG03139.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0142a0001c0001t0002g0205a0001c0001t0007g0206others(1): Show | 4 | 306 | 0.0131 | 0 | c.355 others(5): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 967980 | C | G | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086a0001c0001t0002g0087 | 2 | 306 | 0.0065 | 0 | c.968 others(5): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 967981 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(291): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0088others(291): Show | 294 | 306 | 0.9608 | 0 | c.968 others(5): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
DMRT2_chr9_1045357_1062552 | 1051567 | C | T | splice_region_variant others(1): Show |
LOW | HG02698.hp1 | a0003 | a0003c0004 | a0003c0004t0018 | a0003c0004t0018g0085 | 1 | 488 | 0.0021 | 0 | c.-44 others(5): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
DMRT3_chr9_971655_996732 | 991730 | G | A | splice_region_variant | LOW | HG02559.hp1 HG03098.hp1 NA18906.hp1 |
a0002 | a0002c0002a0002c0018 | a0002c0002t0009a0002c0018t0009 | a0002c0002t0009g0065a0002c0002t0009g0066a0002c0018t0009g0067 | 3 | 458 | 0.0066 | 0 | c.*72 others(4): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 2/2 | chr9 | TogoVar | ||||||
DMRTA1_chr9_22441824_22460740 | 22447740 | G | A | splice_region_variant others(1): Show |
LOW | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 412 | 0.0024 | 0 | c.667 others(5): Show |
DMRTA1 | ENSG00000176399.4 | transcript | ENST00000325870.3 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72847122 | CT | C | splice_region_variant others(1): Show |
LOW | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | -1 | c.319 others(6): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC2_chr19_41840042_41857333 | 41848535 | A | C | splice_region_variant others(1): Show |
LOW | HG03195.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 402 | 0.0050 | 0 | c.447 others(5): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 4/8 | chr19 | TogoVar | ||||||
DMTF1_chr7_87147453_87201325 | 87188300 | T | G | splice_region_variant others(1): Show |
LOW | NA19068.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0002 | 1 | 362 | 0.0028 | 0 | c.141 others(4): Show |
p.Val others(6): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 13/18 | 1644/3702 | 1410/2283 | 470/760 | chr7 | TogoVar | ||
DMTF1_chr7_87147453_87201325 | 87190947 | T | C | missense_variant others(1): Show |
MODERATE | NA18941.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0063 | 1 | 362 | 0.0028 | 0 | c.141 others(4): Show |
p.Ser others(6): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 14/18 | 1648/3702 | 1414/2283 | 472/760 | chr7 | TogoVar | ||
DMTN_chr8_22051814_22087525 | 22066706 | C | G | splice_region_variant | LOW | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0096 | 1 | 324 | 0.0031 | 0 | c.-17 others(4): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 2/16 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22067167 | C | A | splice_region_variant others(1): Show |
LOW | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 324 | 0.0031 | 0 | c.93+ others(4): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 3/15 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22080404 | C | A | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.901 others(5): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 11/15 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22080405 | T | A | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.901 others(5): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 11/15 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22080458 | C | A | missense_variant others(1): Show |
MODERATE | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.947 others(3): Show |
p.Pro others(6): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 12/16 | 1441/2774 | 947/1218 | 316/405 | chr8 | TogoVar | ||
DMTN_chr8_22051814_22087525 | 22080459 | A | G | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.948 others(3): Show |
p.Pro others(6): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 12/16 | 1442/2774 | 948/1218 | 316/405 | chr8 | TogoVar | ||
DMTN_chr8_22051814_22087525 | 22080613 | C | T | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.950 others(5): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22080629 | A | G | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.957 others(5): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22080631 | T | A | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.957 others(5): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22080633 | C | A | splice_region_variant others(1): Show |
LOW | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.957 others(5): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119133129 | T | C | splice_region_variant others(1): Show |
LOW | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 238 | 0.0042 | 0 | c.131 others(6): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 10/43 | chr5 | TogoVar |