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 |