Data for reference DOI:10.1002/humu.24390

161 entries on 4 pages. Showing entries 1 - 50.
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Effect     

Chr     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. M - VUS m.183G>A - - - chrM_000079 - - - Unknown - heteroplasmy 0.105 - 0 - Qi Liu
?/. M - VUS m.183G>A - - - chrM_000079 - - - Germline - heteroplasmy 0.085 - 0 - Qi Liu
?/. M - VUS m.183G>A - - - chrM_000079 - - - Germline - heteroplasmy 0.081 - 0 - Qi Liu
?/. M - VUS m.183G>A - - - chrM_000079 - - - Germline - heteroplasmy 0.08 - 0 - Qi Liu
?/. M - VUS m.199C>T - - - chrM_000087 - - - De novo - heteroplasmy 0.023 - 0 - Qi Liu
?/. M - VUS m.199C>T - - - chrM_000087 - - - De novo - heteroplasmy 0.053 - 0 - Qi Liu
?/. M - VUS m.204C>T - - - chrM_000090 - - - De novo - heteroplasmy 0.033 - 0 - Qi Liu
?/. M - VUS m.204C>T - - - chrM_000090 - - - De novo - heteroplasmy 0.059 - 0 - Qi Liu
?/. M - VUS m.234G>A - - - chrM_000088 - - - Unknown - heteroplasmy 0.06 - 0 - Qi Liu
?/. M - VUS m.234G>A - - - chrM_000088 - - - De novo - heteroplasmy 0.036 - 0 - Qi Liu
?/. M - VUS m.234G>A - - - chrM_000088 - - - Germline - heteroplasmy 0.044 - 0 - Qi Liu
?/. M - VUS m.250C>T - - - chrM_000084 - - - Unknown - heteroplasmy 0.075 - 0 - Qi Liu
?/. M - VUS m.250C>T - - - chrM_000084 - - - Germline - heteroplasmy 0.121 - 0 - Qi Liu
?/. M - VUS m.250C>T - - - chrM_000084 - - - Germline - heteroplasmy 0.054 - 0 - Qi Liu
?/. M - VUS m.250C>T - - - chrM_000084 - - - Germline - heteroplasmy 0.03 - 0 - Qi Liu
?/. M - VUS m.499A>G - - - chrM_000080 - - - Unknown - heteroplasmy 0.041 - 0 - Qi Liu
?/. M - VUS m.499A>G - - - chrM_000080 - - - Germline - heteroplasmy 0.04 - 0 - Qi Liu
?/. M - VUS m.499A>G - - - chrM_000080 - - - Germline - heteroplasmy 0.061 - 0 - Qi Liu
?/. M - VUS m.499A>G - - - chrM_000080 - - - Germline - heteroplasmy 0.065 - 0 - Qi Liu
?/. M - VUS m.508G>A - - - chrM_000081 - - - Unknown - heteroplasmy 0.043 - 0 - Qi Liu
?/. M - VUS m.508G>A - - - chrM_000081 - - - Germline - heteroplasmy 0.045 - 0 - Qi Liu
?/. M - VUS m.508G>A - - - chrM_000081 - - - Germline - heteroplasmy 0.069 - 0 - Qi Liu
?/. M - VUS m.508G>A - - - chrM_000081 - - - Germline - heteroplasmy 0.068 - 0 - Qi Liu
?/. M - VUS m.1717T>C - - - chrM_000034 - - - Unknown - heteroplasmy 0.316 - 0 - Qi Liu
?/. M - VUS m.2235C>T - - - chrM_000035 - - - Unknown - heteroplasmy 0.174 - - - Qi Liu
?/. M - VUS m.2235C>T - - - chrM_000035 - - - Germline - heteroplasmy 0.122 - - - Qi Liu
?/. M - VUS m.3116T>C - - - chrM_000036 - - - Unknown - heteroplasmy 0.204 - - - Qi Liu
?/. M - VUS m.3116T>C - - - chrM_000036 - - - Germline - heteroplasmy 0.166 - - - Qi Liu
?/. M - VUS m.3116T>C - - - chrM_000036 - - - Germline - heteroplasmy 0.083 - - - Qi Liu
?/. M - VUS m.3116T>C - - - chrM_000036 - - - Germline - heteroplasmy 0.128 - - - Qi Liu
?/. M - VUS m.4649T>C - - - chrM_000037 - - - Unknown - heteroplasmy 0.18 - 0 - Qi Liu
?/. M - VUS m.4649T>C - - - chrM_000037 - - - De novo - heteroplasmy 0.031 - - - Qi Liu
?/. M - VUS m.4833G>A - - - chrM_000038 - - - De novo - heteroplasmy 0.03 - - - Qi Liu
?/. M - VUS m.4833G>A - - - chrM_000038 - - - Germline - heteroplasmy 0.059 - - - Qi Liu
?/. M - VUS m.4894T>C - - - chrM_000039 - - - De novo - heteroplasmy 0.085 - - - Qi Liu
?/. M - VUS m.4894T>C - - - chrM_000039 - - - Germline - heteroplasmy 0.035 - - - Qi Liu
?/. M - VUS m.5147A>G - - - chrM_000040 - - - Unknown - heteroplasmy 0.084 - - - Qi Liu
?/. M - VUS m.5147A>G - - - chrM_000040 - - - Germline - heteroplasmy 0.104 - - - Qi Liu
?/. M - VUS m.5147A>G - - - chrM_000040 - - - Germline - heteroplasmy 0.052 - - - Qi Liu
?/. M - VUS m.5147A>G - - - chrM_000040 - - - Germline - heteroplasmy 0.053 - - - Qi Liu
?/. M - VUS m.5458T>C - - - chrM_000041 - - - Unknown - heteroplasmy 0.104 - - - Qi Liu
?/. M - VUS m.5894A>C - - - chrM_000074 - - - Unknown - heteroplasmy 0.099 - 0 - Qi Liu
?/. M - VUS m.5894A>C - - - chrM_000074 - - - Germline - heteroplasmy 0.116 - 0 - Qi Liu
?/. M - VUS m.5894A>C - - - chrM_000074 - - - Germline - heteroplasmy 0.157 - 0 - Qi Liu
?/. M - VUS m.5894A>C - - - chrM_000074 - - - Germline - heteroplasmy 0.131 - 0 - Qi Liu
?/. M - VUS m.6620C>T - - - chrM_000042 - - - Unknown - heteroplasmy 0.059 - 0 - Qi Liu
?/. M - VUS m.6620C>T - - - chrM_000042 - - - De novo - heteroplasmy 0.032 - - - Qi Liu
?/. M - VUS m.7004G>A - - - chrM_000043 - - - Unknown - heteroplasmy 0.1 - - - Qi Liu
?/. M - VUS m.7004G>A - - - chrM_000043 - - - Germline - heteroplasmy 0.044 - - - Qi Liu
?/. M - VUS m.7004G>A - - - chrM_000043 - - - De novo - heteroplasmy 0.021 - - - Qi Liu
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52 entries on 2 pages. Showing entries 1 - 50.
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AscendingIndividual ID     

ID_report     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00405035 8_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-ND2 - 2 1 Qi Liu
00405089 8_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-ND2 - 2 1 Qi Liu
00405090 8_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB, MT-ND2 - 2 1 Qi Liu
00405091 8_OF_BL - ? - Pakistan - - - - - Healthy/Control - MT-CYB, MT-ND2 - 2 1 Qi Liu
00405092 18_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB, MT-ND5 - 8 1 Qi Liu
00405093 18_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB, MT-ND2, MT-ND5, MT-TS1 - 10 1 Qi Liu
00405094 18_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB, MT-ND2, MT-ND5 - 8 1 Qi Liu
00405096 18_OF_BS - F - Pakistan - - - - - Healthy/Control - MT-CYB, MT-ND5 - 6 1 Qi Liu
00405097 20_GGM_BL - F - Pakistan - - 0 - - Healthy/Control - MT-CO1, MT-CO2, MT-ND2, MT-ND5, MT-RNR2 MT-ATP6 7 1 Qi Liu
00405098 20_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-ND5 - 1 1 Qi Liu
00405099 20_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-ND5 - 1 1 Qi Liu
00405436 20_OF_BS - ? - Pakistan - - - - - Healthy/Control - MT-CO1, MT-CO2, MT-ND2, MT-ND5 - 6 1 Qi Liu
00405437 21_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-ATP6, MT-TP - 2 1 Qi Liu
00405438 21_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-ATP6 - 2 1 Qi Liu
00405439 21_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-TP - 2 1 Qi Liu
00405440 23_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-CO1, MT-CYB, MT-ND6 - 4 1 Qi Liu
00405441 23_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-CO1, MT-CYB - 6 1 Qi Liu
00405442 23_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB - 1 1 Qi Liu
00405443 23_OF_BS - ? - Pakistan - - - - - Healthy/Control - MT-CO1, MT-CYB - 4 1 Qi Liu
00405654 25_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-ND2, MT-ND5 - 2 1 Qi Liu
00405655 29_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-RNR2 - 1 1 Qi Liu
00405656 29_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-ND2, MT-RNR2 - 2 1 Qi Liu
00405657 29_OF_BL - F - Pakistan - - - - - Healthy/Control - MT-ND2 - 1 1 Qi Liu
00405658 37_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB - 1 1 Qi Liu
00405659 37_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB - 1 1 Qi Liu
00405660 37_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-CYB, MT-ND6 - 2 1 Qi Liu
00405661 37_OF_BS - ? - Pakistan - - - - - Healthy/Control - MT-CYB - 1 1 Qi Liu
00405662 42_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-CO2, MT-ND4 - 4 1 Qi Liu
00405663 42_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-CO2, MT-ND4 - 4 1 Qi Liu
00405664 42_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-CO2, MT-ND4 - 4 1 Qi Liu
00405665 42_OF_BS - ? - Pakistan - - - - - Healthy/Control - MT-CO2, MT-ND4 - 4 1 Qi Liu
00405666 43_GGM_BS - F - Pakistan - - - - - Healthy/Control - MT-ND5 - 1 1 Qi Liu
00405667 43_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-ND5 - 1 1 Qi Liu
00405668 43_MO_BL - F - Pakistan - - 0 - - Healthy/Control - MT-ND5 - 1 1 Qi Liu
00405669 43_OF_BS - ? - Pakistan - - - - - Healthy/Control - MT-ND5 - 1 1 Qi Liu
00405670 50_GGM_BL - F - Pakistan - - - - - Healthy/Control - MT-RNR2 - 8 1 Qi Liu
00405671 50_GM_BL - F - Pakistan - - - - - Healthy/Control - MT-RNR2 - 7 1 Qi Liu
00405672 50_MO_BL - F - Pakistan - - - - - Healthy/Control - MT-RNR2 - 7 1 Qi Liu
00405673 50_OF_BL - ? - Pakistan - - - - - Healthy/Control - MT-ND5, MT-RNR2 - 2 1 Qi Liu
00406482 19_GGM_BL - F - Pakistan - - 0 - - Healthy/Control - - - 1 1 Qi Liu
00406483 19_GM_BL - F - Pakistan - - 0 - - Healthy/Control - - - 1 1 Qi Liu
00406484 19_MO_BL - F - Pakistan - - 0 - - Healthy/Control - - - 1 1 Qi Liu
00406485 19_OF_BS - - - Pakistan - - 0 - - Healthy/Control - - - 1 1 Qi Liu
00406486 21_OF_BS - - - Pakistan - - 0 - - Healthy/Control - - - 1 1 Qi Liu
00406487 31_GGM_BL - F - Pakistan - - 0 - - Healthy/Control - - - 3 1 Qi Liu
00406488 31_GM_BL - F - Pakistan - - 0 - - Healthy/Control - - - 6 1 Qi Liu
00406489 31_MO_BL - F - Pakistan - - 0 - - Healthy/Control - - - 3 1 Qi Liu
00406490 31_OF_BS - - - Pakistan - - 0 - - Healthy/Control - - - 4 1 Qi Liu
00406491 47_GGM_BS - F - Pakistan - - 0 - - Healthy/Control - - - 1 1 Qi Liu
00406492 47_MO_BL - F - Pakistan - - 0 - - Healthy/Control - - - 1 1 Qi Liu
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