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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View MT 8932 8932 C > T MT-ATP6 ENST00000361899.2:c.406C>T
ENSP00000354632.2:p.Pro136Ser
36/10482 0.00329 4 mitochondrial_gene_context Likely Benign
View MT 8943 8943 C > T MT-ATP6 ENST00000361899.2:c.417C>T
ENSP00000354632.2:p.Pro139=
3/10482 0.00029 4 mitochondrial_gene_context Likely Benign
View MT 9006 9006 A > G MT-ATP6 ENST00000361899.2:c.480A>G
ENSP00000354632.2:p.Leu160=
30/10482 0.00272 4 mitochondrial_gene_context Likely Benign
View MT 9072 9072 A > G MT-ATP6 ENST00000361899.2:c.546A>G
ENSP00000354632.2:p.Ser182=
93/10484 0.0083 4 mitochondrial_gene_context Likely Benign
View MT 9180 9180 A > G MT-ATP6 ENST00000361899.2:c.654A>G
ENSP00000354632.2:p.Val218=
27/10482 0.00239 4 mitochondrial_gene_context Likely Benign
View MT 9368 9368 A > G MT-CO3 ENST00000362079.2:c.162A>G
ENSP00000354982.2:p.Met54=
16/10482 0.00143 4 mitochondrial_gene_context Likely Benign
View MT 9467 9467 T > C MT-CO3 ENST00000362079.2:c.261T>C
ENSP00000354982.2:p.Ile87=
13/10483 0.00119 4 mitochondrial_gene_context Likely Benign
View MT 9667 9667 A > G MT-CO3 ENST00000362079.2:c.461A>G
ENSP00000354982.2:p.Asn154Ser
74/10482 0.00677 4 non_synonymous Likely Benign
View MT 9750 9750 T > C MT-CO3 ENST00000362079.2:c.544T>C
ENSP00000354982.2:p.Phe182Leu
3/10482 0.00029 4 non_synonymous Likely Benign
View MT 9861 9861 T > C MT-CO3 ENST00000362079.2:c.655T>C
ENSP00000354982.2:p.Phe219Leu
20/10482 0.00176 4 mitochondrial_gene_context Likely Benign
View MT 9966 9966 G > A MT-CO3 ENST00000362079.2:c.760G>A
ENSP00000354982.2:p.Val254Ile
74/10482 0.00658 4 mitochondrial_gene_context Likely Benign
View MT 10084 10084 T > C MT-ND3 ENST00000361227.2:c.26T>C
ENSP00000355206.2:p.Ile9Thr
86/10483 0.00768 4 mitochondrial_gene_context Likely Benign
View MT 10321 10321 T > C MT-ND3 ENST00000361227.2:c.263T>C
ENSP00000355206.2:p.Val88Ala
64/10482 0.00601 4 mitochondrial_gene_context Likely Benign
View MT 10335 10335 T > C MT-ND3 ENST00000361227.2:c.277T>C
ENSP00000355206.2:p.Leu93=
3/10482 0.00029 4 mitochondrial_gene_context Likely Benign
View MT 10632 10632 T > C MT-ND4L ENST00000361335.1:c.163T>C
ENSP00000354728.1:p.Leu55=
5/10482 0.00048 4 mitochondrial_gene_context Likely Benign
View MT 10798 10798 A > G MT-ND4 ENST00000361381.2:c.39A>G
ENSP00000354961.2:p.Pro13=
3/10482 0.00024 4 mitochondrial_gene_context Likely Benign
View MT 10882 10882 T > C MT-ND4 ENST00000361381.2:c.123T>C
ENSP00000354961.2:p.Phe41=
5/10482 0.00048 4 mitochondrial_gene_context Likely Benign
View MT 11151 11151 C > T MT-ND4 ENST00000361381.2:c.392C>T
ENSP00000354961.2:p.Ala131Val
20/10482 0.00186 4 non_synonymous Likely Benign
View MT 11167 11167 A > G MT-ND4 ENST00000361381.2:c.408A>G
ENSP00000354961.2:p.Trp136=
17/10482 0.00157 4 mitochondrial_gene_context Likely Benign
View MT 11254 11254 T > C MT-ND4 ENST00000361381.2:c.495T>C
ENSP00000354961.2:p.Ile165=
7/10482 0.00048 4 mitochondrial_gene_context Likely Benign
View MT 11428 11428 C > T MT-ND4 ENST00000361381.2:c.669C>T
ENSP00000354961.2:p.Ala223=
8/10482 0.00076 4 mitochondrial_gene_context Likely Benign
View MT 11560 11560 A > G MT-ND4 ENST00000361381.2:c.801A>G
ENSP00000354961.2:p.Trp267=
14/10482 0.00124 4 mitochondrial_gene_context Likely Benign
View MT 11593 11593 A > G MT-ND4 ENST00000361381.2:c.834A>G
ENSP00000354961.2:p.Arg278=
1/10482 0.0001 4 mitochondrial_gene_context Likely Benign
View MT 11840 11840 C > T MT-ND4 ENST00000361381.2:c.1081C>T
ENSP00000354961.2:p.Leu361=
90/10482 0.00844 4 mitochondrial_gene_context Likely Benign
View MT 11899 11899 T > C MT-ND4 ENST00000361381.2:c.1140T>C
ENSP00000354961.2:p.Ser380=
26/10482 0.00248 4 mitochondrial_gene_context Likely Benign
View MT 12026 12026 A > G MT-ND4 ENST00000361381.2:c.1267A>G
ENSP00000354961.2:p.Ile423Val
7/10482 0.00062 4 non_synonymous Likely Benign
View MT 12346 12346 C > T MT-ND5 ENST00000361567.2:c.10C>T
ENSP00000354813.2:p.His4Tyr
63/10482 0.00582 4 mitochondrial_gene_context Likely Benign
View MT 12651 12651 G > A MT-ND5 ENST00000361567.2:c.315G>A
ENSP00000354813.2:p.Leu105=
16/10482 0.00134 4 mitochondrial_gene_context Likely Benign
View MT 12681 12681 T > C MT-ND5 ENST00000361567.2:c.345T>C
ENSP00000354813.2:p.Asn115=
13/10482 0.00114 4 mitochondrial_gene_context Likely Benign
View MT 12810 12810 A > G MT-ND5 ENST00000361567.2:c.474A>G
ENSP00000354813.2:p.Trp158=
131/10482 0.01173 4 mitochondrial_gene_context Likely Benign
View MT 13116 13116 C > T MT-ND5 ENST00000361567.2:c.780C>T
ENSP00000354813.2:p.Leu260=
10/10482 0.00086 4 mitochondrial_gene_context Likely Benign
View MT 13191 13191 T > C MT-ND5 ENST00000361567.2:c.855T>C
ENSP00000354813.2:p.Thr285=
12/10482 0.00114 4 mitochondrial_gene_context Likely Benign
View MT 13212 13212 C > T MT-ND5 ENST00000361567.2:c.876C>T
ENSP00000354813.2:p.Ala292=
5/10482 0.00038 4 mitochondrial_gene_context Likely Benign
View MT 13485 13485 A > G MT-ND5 ENST00000361567.2:c.1149A>G
ENSP00000354813.2:p.Met383=
96/10484 0.00863 4 mitochondrial_gene_context Likely Benign
View MT 13488 13488 T > C MT-ND5 ENST00000361567.2:c.1152T>C
ENSP00000354813.2:p.Pro384=
20/10482 0.00176 3 mitochondrial_gene_context Likely Benign
View MT 13563 13563 A > G MT-ND5 ENST00000361567.2:c.1227A>G
ENSP00000354813.2:p.Leu409=
15/10482 0.00138 4 mitochondrial_gene_context Likely Benign
View MT 13635 13635 T > C MT-ND5 ENST00000361567.2:c.1299T>C
ENSP00000354813.2:p.Gly433=
20/10482 0.00186 4 mitochondrial_gene_context Likely Benign
View MT 14000 14000 T > A MT-ND5 ENST00000361567.2:c.1664T>A
ENSP00000354813.2:p.Leu555Gln
94/10484 0.00854 4 mitochondrial_gene_context Likely Benign
View MT 14002 14002 A > G MT-ND5 ENST00000361567.2:c.1666A>G
ENSP00000354813.2:p.Thr556Ala
37/10482 0.00339 4 mitochondrial_gene_context Likely Benign
View MT 14022 14022 A > G MT-ND5 ENST00000361567.2:c.1686A>G
ENSP00000354813.2:p.Leu562=
24/10482 0.0021 4 mitochondrial_gene_context Likely Benign
View MT 14040 14040 G > A MT-ND5 ENST00000361567.2:c.1704G>A
ENSP00000354813.2:p.Gln568=
51/10482 0.00453 4 mitochondrial_gene_context Likely Benign
View MT 14076 14076 A > G MT-ND5 ENST00000361567.2:c.1740A>G
ENSP00000354813.2:p.Gln580=
3/10482 0.00029 4 mitochondrial_gene_context Likely Benign
View MT 14148 14148 A > G MT-ND5 ENST00000361567.2:c.1812A>G
ENSP00000354813.2:p.Ter604=
83/10484 0.00758 4 mitochondrial_gene_context Likely Benign
View MT 14393 14393 A > G MT-ND6 ENST00000361681.2:c.281T>C
ENSP00000354665.2:p.Val94Ala
10/10482 0.00095 4 mitochondrial_gene_context Likely Benign
View MT 14470 14470 T > A MT-ND6 ENST00000361681.2:c.204A>T
ENSP00000354665.2:p.Gly68=
101/10483 0.00925 3 mitochondrial_gene_context Likely Benign
View MT 14911 14911 C > T MT-CYB ENST00000361789.2:c.165C>T
ENSP00000354554.2:p.Tyr55=
93/10483 0.00835 4 mitochondrial_gene_context Likely Benign
View MT 15071 15071 T > C MT-CYB ENST00000361789.2:c.325T>C
ENSP00000354554.2:p.Tyr109His
6/10482 0.00048 4 mitochondrial_gene_context Likely Benign
View MT 15100 15100 C > T MT-CYB ENST00000361789.2:c.354C>T
ENSP00000354554.2:p.Ile118=
4/10482 0.00038 4 mitochondrial_gene_context Likely Benign
View MT 15139 15139 T > C MT-CYB ENST00000361789.2:c.393T>C
ENSP00000354554.2:p.Tyr131=
7/10482 0.00062 4 mitochondrial_gene_context Likely Benign
View MT 15191 15191 T > C MT-CYB ENST00000361789.2:c.445T>C
ENSP00000354554.2:p.Leu149=
37/10483 0.00343 4 mitochondrial_gene_context Likely Benign
Displaying 2,450 through 2,500 of 2,719 variants