Category | HGMD Acc. No | Chr | Chrom. location | Strand | Disease | Gene | Mutation | HGVS (cDNA) nomenclature | HGVS (protein) nomenclature | Type |
---|---|---|---|---|---|---|---|---|---|---|
Covered by both the Neanderthal and the Denisovan sequencea | CM993347 | Chr1 | 67633930 | + | Atopy | IL12RB2 | A > G:GAA | NM_001559.2: c.2159A > G | NP_001550.1: p.H720R | Chimpanzee |
 | CM042258 | Chr1 | 94337039 | - | Stargardt disease | ABCA4 | T > G:GGT | NM_000350.2: c.667A > C | NP_000341.2: p.K223Q | Denisovan and chimpanzee |
 | CM070090 | Chr1 | 167765599 | - | Thrombosis? | F5 | C > T:CTC | NM_000130.4: c.5290G > A | NP_000121.2: p.V1764M | Denisovan |
 | CM099258 | Chr15 | 40468491 | + | Muscular dystrophy? | CAPN3 | G > A:AAA | NM_000070.2: c.706G > A | NP_000061.1: p.A236T | Human |
 | CM085365* | Chr15 | 43185730 | - | Hypothyroidism | DUOX2 | T > C:CCC | NM_014080.4: c.2033A > G | NP_054799.4: p.H678R | Human |
 | CM984025* | Chr19 | 18047618 | - | Mycobacterial infection | IL12RB1 | T > C:CCT | NM_005535.1: c.641A > G | NP_005526.1: p.Q214R | Denisovan and chimpanzee |
 | CM044918 | Chr19 | 41022117 | - | Congenital nephrotic syndrome, Finnish type | NPHS1 | C > G:GGG | NM_004646.1: c.2971G > C | NP_004637.1: p.V991L | Human |
 | CM064230 | Chr19 | 43656115 | + | Malignant hyperthermia | RYR1 | A > G:GAA | NM_000540.2: c.4024A > G | NP_000531.2: p.S1342G | Chimpanzee |
 | CM961339* | Chr22 | 30836050 | + | Glucose/galactose malabsorption | SLC5A1 | C > G:GGC | NM_000343.1: c.1845C > G | NP_000334.1: p.H615Q | Denisovan and chimpanzee |
 | CM980573 | Chr5 | 149341414 | + | Achondrogenesis 1B | SLC26A2 | A > T:TAT | NM_000112.3: c.2065A > T | NP_000103.2: p.T689S | Neanderthal and chimpanzee |
 | CM043093 | Chr6 | 25958824 | - | Glycogen storage disease 1c? | SLC17A3 | C > T:TCC | NM_006632.3: c.601G > A | NP_006623.2: p.G201R | Chimpanzee |
 | CM072814 | Chr7 | 86894112 | - | Intrahepatic cholestasis, familial progressive? | ABCB4 | T > C:CCC | NM_000443.3: c.1954A > G | NP_000434.1: p.R652G | Human |
 | CM050323 | Chr7 | 107129530 | + | Pendred syndrome? | SLC26A4 | T > G:GTG | NM_000441.1: c.1826T > G | NP_000432.1: p.V609G | Neanderthal and chimpanzee |
 | CM983990 | Chr8 | 22032655 | - | Alopecia universalis? | HR | T > C:CCC | NM_005144.3: c.3064A > G | NP_005135.2: p.T1022A | Human |
 | CM099178* | Chr8 | 118899878 | - | Multiple osteochondromas | EXT1 | C > T:TCC | NM_000127.2: c.1609G > A | NP_000118.2: p.V537I | Chimpanzee |
 | CM085353* | ChrX | 149390017 | + | Hypospadias | MAMLD1 | T > C:CYC | NM_005491.2: c.1514T > C | NP_005482.2: p.V505A | Others |
Covered only by the Denisovan sequenceb | CM043273 | Chr1 | 195670491 | + | Retinitis pigmentosa | CRB1 | G > A:AG | NM_201253.1: c.2875G > A | NP_957705.1: p.G959S | Chimpanzee |
 | CM067436 | Chr11 | 7020956 | + | Spermatogenic failure | NLRP14 | G > A:AG | NM_176822.3: c.1123G > A | NP_789792.1: p.A375T | Chimpanzee |
 | CM043536 | Chr11 | 47326617 | - | Cardiomyopathy, hypertrophic? | MYBPC3 | T > C:CT | NM_000256.3: c.706A > G | NP_000247.2: p.S236G | Chimpanzee |
 | CM082943 | Chr11 | 118720796 | - | Primary angle-closure glaucoma? | MFRP | C > T:TT | NM_031433.1: c.770G > A | NP_113621.1: p.R257H | Ancestral |
 | CM091988 | Chr12 | 32913201 | - | Arrhythmogenic right ventricular cardiomyopathy | PKP2 | A > G:GG | NM_004572.3: c.1097T > C | NP_004563.2: p.L366P | Ancestral |
 | CM044579 | Chr13 | 51413355 | - | Wilson disease? | ATP7B | A > G:GG | NM_000053.2: c.3419T > C | NP_000044.2: p.V1140A | Ancestral |
 | CM073339 | Chr17 | 24310977 | - | Febrile seizures? | SEZ6 | T > C:CC | NM_178860.4: c.1636A > G | NP_849191.3: p.T546A | Ancestral |
 | CM101950 | Chr2 | 98363138 | + | Progressive cone dystrophy? | CNGA3 | C > T:TC | NM_001298.2: c.284C > T | NP_001289.1: p.P95L | Chimpanzee |
 | CM961335 | Chr22 | 30817700 | + | Glucose/galactose malabsorption | SLC5A1 | G > A:AA | NM_000343.1: c.1231G > A | NP_000334.1: p.A411T | Ancestral |
 | CR080762 | Chr1 | 15645754 | + | Pancreatitis, chronic? | CTRC | T > C:CC | rs75456156:T > C | NA | Ancestral |
 | CR080761 | Chr1 | 15645757 | + | Pancreatitis, chronic? | CTRC | A > G:GG | rs760937:A > G | NA | Ancestral |
 | CR962526 | Chr8 | 41774321 | - | Spherocytosis | ANK1 | A > G:GA | rs77173848:A > G | NA | Chimpanzee |