2 | g.201078846C>A | CA2662610211 | NDUFB3 | c.-2-35C>A (n.-2-35C>A)
| gnomAD v4 |
2 | g.201078846C= | CA1320910980 | NDUFB3 | c.-2-35C= (n.-2-35C=)
| |
2 | g.201078846C>G | CA2052271 | NDUFB3 | c.-2-35C>G (n.-2-35C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078847A= | CA1320910981 | NDUFB3 | c.-2-34A= (n.-2-34A=)
| |
2 | g.201078847A>G | CA2052272 | NDUFB3 | c.-2-34A>G (n.-2-34A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078849A= | CA1320910983 | NDUFB3 | c.-2-32A= (n.-2-32A=)
| |
2 | g.201078849A>G | CA538928159 | NDUFB3 | c.-2-32A>G (n.-2-32A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078849_201078850delinsAT | CA1320910982 | NDUFB3 | c.-2-32_-2-31delinsAT (n.-2-32_-2-31delinsAT)
| |
2 | g.201078852del | CA1320910984 | NDUFB3 | c.-2-29del (n.-2-29del)
| dbSNP |
2 | g.201078851T>C | CA538928160 | NDUFB3 | c.-2-30T>C (n.-2-30T>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.201078851T= | CA1320910985 | NDUFB3 | c.-2-30T= (n.-2-30T=)
| |
2 | g.201078853C>A | CA2662610213 | NDUFB3 | c.-2-28C>A (n.-2-28C>A)
| gnomAD v4 |
2 | g.201078854T>C | CA2662610214 | NDUFB3 | c.-2-27T>C (n.-2-27T>C)
| gnomAD v4 |
2 | g.201078855C= | CA1320910986 | NDUFB3 | c.-2-26C= (n.-2-26C=)
| |
2 | g.201078855C>T | CA2052273 | NDUFB3 | c.-2-26C>T (n.-2-26C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201078856A>T | CA2662610215 | NDUFB3 | c.-2-25A>T (n.-2-25A>T)
| gnomAD v4 |
2 | g.201078857C>G | CA2577209087 | NDUFB3 | c.-2-24C>G (n.-2-24C>G)
| |
2 | g.201078857C>T | CA2662610216 | NDUFB3 | c.-2-24C>T (n.-2-24C>T)
| gnomAD v4 |
2 | g.201078859T>C | CA2662610217 | NDUFB3 | c.-2-22T>C (n.-2-22T>C)
| gnomAD v4 |
2 | g.201078860G>A | CA2753866671 | NDUFB3 | c.-2-21G>A (n.-2-21G>A)
| |
2 | g.201078860G= | CA1320910987 | NDUFB3 | c.-2-21G= (n.-2-21G=)
| |
2 | g.201078860G>T | CA538928161 | NDUFB3 | c.-2-21G>T (n.-2-21G>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.201078862G>A | CA763302523 | NDUFB3 | c.-2-19G>A (n.-2-19G>A)
| dbSNP gnomAD v4 |
2 | g.201078862G= | CA1320910988 | NDUFB3 | c.-2-19G= (n.-2-19G=)
| |
2 | g.201078864T>C | CA763302524 | NDUFB3 | c.-2-17T>C (n.-2-17T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.201078864T= | CA1320910989 | NDUFB3 | c.-2-17T= (n.-2-17T=)
| |
2 | g.201078866del | CA2577209088 | NDUFB3 | c.-2-15del (n.-2-15del)
| |
2 | g.201078866A>G | CA2662610218 | NDUFB3 | c.-2-15A>G (n.-2-15A>G)
| gnomAD v4 |
2 | g.201078872T>C | CA2662610219 | NDUFB3 | c.-2-9T>C (n.-2-9T>C)
| gnomAD v4 |
2 | g.201078873C= | CA1320910990 | NDUFB3 | c.-2-8C= (n.-2-8C=)
| |
2 | g.201078873C>G | CA763302525 | NDUFB3 | c.-2-8C>G (n.-2-8C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.201078873C>T | CA2662610220 | NDUFB3 | c.-2-8C>T (n.-2-8C>T)
| gnomAD v4 |
2 | g.201078875_201078889del | CA2577209089 | NDUFB3 | c.-2-6_7del
| |
2 | g.201078874C>A | CA2577209090 | NDUFB3 | c.-2-7C>A (n.-2-7C>A)
| |
2 | g.201078876T>C | CA1320910992 | NDUFB3 | c.-2-5T>C (n.-2-5T>C)
| dbSNP gnomAD v4 |
2 | g.201078876T>G | CA63864138 | NDUFB3 | c.-2-5T>G (n.-2-5T>G)
| dbSNP |
2 | g.201078876T= | CA1320910991 | NDUFB3 | c.-2-5T= (n.-2-5T=)
| |
2 | g.201078877A= | CA1320910993 | NDUFB3 | c.-2-4A= (n.-2-4A=)
| |
2 | g.201078877A>G | CA538928162 | NDUFB3 | c.-2-4A>G (n.-2-4A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078877A>T | CA63864157 | NDUFB3 | c.-2-4A>T (n.-2-4A>T)
| dbSNP |
2 | g.201078878C>A | CA63864161 | NDUFB3 | c.-2-3C>A (n.-2-3C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078878C= | CA1320910994 | NDUFB3 | c.-2-3C= (n.-2-3C=)
| |
2 | g.201078878C>G | CA2662610221 | NDUFB3 | c.-2-3C>G (n.-2-3C>G)
| gnomAD v4 |
2 | g.201078882C= | CA1320910995 | NDUFB3 | c.-1C= (n.-1C=)
| |
2 | g.201078882C>T | CA913089675 | NDUFB3 | c.-1C>T (n.-1C>T)
| dbSNP |
2 | g.201078883A>C | CA350268066 | NDUFB3 | c.1A>C (p.Met1Leu)
| |
2 | g.201078883A>G | CA350268068 | NDUFB3 | c.1A>G (p.Met1Val)
| gnomAD v4 |
2 | g.201078883A>T | CA350268067 | NDUFB3 | c.1A>T (p.Met1Leu)
| |
2 | g.201078884T>A | CA350268069 | NDUFB3 | c.2T>A (p.Met1Lys)
| |
2 | g.201078884T>C | CA350268070 | NDUFB3 | c.2T>C (p.Met1Thr)
| |
2 | g.201078884T>G | CA350268075 | NDUFB3 | c.2T>G (p.Met1Arg)
| |
2 | g.201078885G>A | CA350268077 | NDUFB3 | c.3G>A (p.Met1Ile)
| |
2 | g.201078885G>C | CA350268087 | NDUFB3 | c.3G>C (p.Met1Ile)
| |
2 | g.201078885G>T | CA350268094 | NDUFB3 | c.3G>T (p.Met1Ile)
| |
2 | g.201078886G>A | CA63864162 | NDUFB3 | c.4G>A (p.Ala2Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078886G>C | CA350268099 | NDUFB3 | c.4G>C (p.Ala2Pro)
| |
2 | g.201078886G= | CA1320910996 | NDUFB3 | c.4G= (p.Ala2=)
| |
2 | g.201078886G>T | CA350268104 | NDUFB3 | c.4G>T (p.Ala2Ser)
| COSMIC |
2 | g.201078887C>A | CA350268108 | NDUFB3 | c.5C>A (p.Ala2Asp)
| |
2 | g.201078887C>G | CA350268111 | NDUFB3 | c.5C>G (p.Ala2Gly)
| |
2 | g.201078887C>T | CA350268126 | NDUFB3 | c.5C>T (p.Ala2Val)
| |
2 | g.201078888C>A | CA430608097 | NDUFB3 | c.6C>A (p.Ala2=)
| |
2 | g.201078888C>G | CA430608100 | NDUFB3 | c.6C>G (p.Ala2=)
| |
2 | g.201078888C>T | CA430608099 | NDUFB3 | c.6C>T (p.Ala2=)
| |
2 | g.201078889C>A | CA350268132 | NDUFB3 | c.7C>A (p.His3Asn)
| |
2 | g.201078889C>G | CA350268129 | NDUFB3 | c.7C>G (p.His3Asp)
| |
2 | g.201078889C>T | CA350268130 | NDUFB3 | c.7C>T (p.His3Tyr)
| gnomAD v4 |
2 | g.201078890A= | CA1320910997 | NDUFB3 | c.8A= (p.His3=)
| |
2 | g.201078890A>C | CA350268134 | NDUFB3 | c.8A>C (p.His3Pro)
| |
2 | g.201078890A>G | CA2052274 | NDUFB3 | c.8A>G (p.His3Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078890A>T | CA350268139 | NDUFB3 | c.8A>T (p.His3Leu)
| |
2 | g.201078891T>A | CA350268146 | NDUFB3 | c.9T>A (p.His3Gln)
| ClinVar |
2 | g.201078891T>C | CA63864189 | NDUFB3 | c.9T>C (p.His3=)
| dbSNP gnomAD v4 |
2 | g.201078891T>G | CA350268149 | NDUFB3 | c.9T>G (p.His3Gln)
| |
2 | g.201078891T= | CA1320910998 | NDUFB3 | c.9T= (p.His3=)
| |
2 | g.201078892G>A | CA350268154 | NDUFB3 | c.10G>A (p.Glu4Lys)
| |
2 | g.201078892G>C | CA350268157 | NDUFB3 | c.10G>C (p.Glu4Gln)
| dbSNP gnomAD v4 |
2 | g.201078892G= | CA1320910999 | NDUFB3 | c.10G= (p.Glu4=)
| |
2 | g.201078892G>T | CA350268161 | NDUFB3 | c.10G>T (p.Glu4Ter)
| |
2 | g.201078893A>C | CA350268162 | NDUFB3 | c.11A>C (p.Glu4Ala)
| |
2 | g.201078893A>G | CA350268163 | NDUFB3 | c.11A>G (p.Glu4Gly)
| |
2 | g.201078893A>T | CA350268164 | NDUFB3 | c.11A>T (p.Glu4Val)
| |
2 | g.201078894A= | CA1320911000 | NDUFB3 | c.12A= (p.Glu4=)
| |
2 | g.201078894A>C | CA350268171 | NDUFB3 | c.12A>C (p.Glu4Asp)
| |
2 | g.201078894A>G | CA2052275 | NDUFB3 | c.12A>G (p.Glu4=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201078894A>T | CA350268168 | NDUFB3 | c.12A>T (p.Glu4Asp)
| |
2 | g.201078894_201078906delinsACATGGACATGAG | CA1320911001 | NDUFB3 | c.12_24delinsACATGGACATGAG (p.Glu4=)
| |
2 | g.201078895C>A | CA350268173 | NDUFB3 | c.13C>A (p.His5Asn)
| gnomAD v4 |
2 | g.201078895C>G | CA350268174 | NDUFB3 | c.13C>G (p.His5Asp)
| |
2 | g.201078895C>T | CA350268178 | NDUFB3 | c.13C>T (p.His5Tyr)
| ClinVar gnomAD v4 |
2 | g.201078904_201078915dup | CA538928163 | NDUFB3 | c.22_33dup (p.His11_His12insGluHisGlyHis)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078904_201078915del | CA538928164 | NDUFB3 | c.22_33del (p.Glu8_His11del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.201078896A= | CA1320911002 | NDUFB3 | c.14A= (p.His5=)
| |
2 | g.201078896A>C | CA350268183 | NDUFB3 | c.14A>C (p.His5Pro)
| |
2 | g.201078896A>G | CA2052276 | NDUFB3 | c.14A>G (p.His5Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201078896A>T | CA350268194 | NDUFB3 | c.14A>T (p.His5Leu)
| |
2 | g.201078897T>A | CA350268197 | NDUFB3 | c.15T>A (p.His5Gln)
| |
2 | g.201078897T>C | CA430608110 | NDUFB3 | c.15T>C (p.His5=)
| |
2 | g.201078897T>G | CA2052277 | NDUFB3 | c.15T>G (p.His5Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078897T= | CA1320911003 | NDUFB3 | c.15T= (p.His5=)
| |
2 | g.201078898G>A | CA350268201 | NDUFB3 | c.16G>A (p.Gly6Arg)
| |
2 | g.201078898G>C | CA350268205 | NDUFB3 | c.16G>C (p.Gly6Arg)
| |
2 | g.201078898G>T | CA350268209 | NDUFB3 | c.16G>T (p.Gly6Ter)
| |
2 | g.201078899G>A | CA350268214 | NDUFB3 | c.17G>A (p.Gly6Glu)
| gnomAD v4 |
2 | g.201078899G>C | CA350268216 | NDUFB3 | c.17G>C (p.Gly6Ala)
| |
2 | g.201078899G>T | CA350268218 | NDUFB3 | c.17G>T (p.Gly6Val)
| |
2 | g.201078900A>C | CA430608113 | NDUFB3 | c.18A>C (p.Gly6=)
| |
2 | g.201078900A>G | CA430608114 | NDUFB3 | c.18A>G (p.Gly6=)
| |
2 | g.201078900A>T | CA430608112 | NDUFB3 | c.18A>T (p.Gly6=)
| |
2 | g.201078901C>A | CA350268221 | NDUFB3 | c.19C>A (p.His7Asn)
| |
2 | g.201078901C= | CA1320911004 | NDUFB3 | c.19C= (p.His7=)
| |
2 | g.201078901C>G | CA350268225 | NDUFB3 | c.19C>G (p.His7Asp)
| |
2 | g.201078901C>T | CA320317 | NDUFB3 | c.19C>T (p.His7Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078902A= | CA1320911005 | NDUFB3 | c.20A= (p.His7=)
| |
2 | g.201078902A>C | CA63864245 | NDUFB3 | c.20A>C (p.His7Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078902A>G | CA350268231 | NDUFB3 | c.20A>G (p.His7Arg)
| gnomAD v4 |
2 | g.201078902A>T | CA350268241 | NDUFB3 | c.20A>T (p.His7Leu)
| |
2 | g.201078903T>A | CA350268244 | NDUFB3 | c.21T>A (p.His7Gln)
| |
2 | g.201078903T>C | CA430608116 | NDUFB3 | c.21T>C (p.His7=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078903T>G | CA350268247 | NDUFB3 | c.21T>G (p.His7Gln)
| |
2 | g.201078903T= | CA1320911006 | NDUFB3 | c.21T= (p.His7=)
| |
2 | g.201078904G>A | CA2052278 | NDUFB3 | c.22G>A (p.Glu8Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201078904G>C | CA350268254 | NDUFB3 | c.22G>C (p.Glu8Gln)
| |
2 | g.201078904G= | CA1320911007 | NDUFB3 | c.22G= (p.Glu8=)
| |
2 | g.201078904G>T | CA350268257 | NDUFB3 | c.22G>T (p.Glu8Ter)
| |
2 | g.201078905A>C | CA350268262 | NDUFB3 | c.23A>C (p.Glu8Ala)
| |
2 | g.201078905A>G | CA350268266 | NDUFB3 | c.23A>G (p.Glu8Gly)
| |
2 | g.201078905A>T | CA350268268 | NDUFB3 | c.23A>T (p.Glu8Val)
| |
2 | g.201078906G>A | CA430608120 | NDUFB3 | c.24G>A (p.Glu8=)
| |
2 | g.201078906G>C | CA350268272 | NDUFB3 | c.24G>C (p.Glu8Asp)
| |
2 | g.201078906G>T | CA350268270 | NDUFB3 | c.24G>T (p.Glu8Asp)
| |
2 | g.201078907C>A | CA350268278 | NDUFB3 | c.25C>A (p.His9Asn)
| |
2 | g.201078907C>G | CA350268287 | NDUFB3 | c.25C>G (p.His9Asp)
| gnomAD v4 |
2 | g.201078907C>T | CA350268281 | NDUFB3 | c.25C>T (p.His9Tyr)
| |
2 | g.201078908A>C | CA350268290 | NDUFB3 | c.26A>C (p.His9Pro)
| |
2 | g.201078908A>G | CA350268294 | NDUFB3 | c.26A>G (p.His9Arg)
| gnomAD v4 |
2 | g.201078908A>T | CA350268292 | NDUFB3 | c.26A>T (p.His9Leu)
| |
2 | g.201078909T>A | CA350268298 | NDUFB3 | c.27T>A (p.His9Gln)
| |
2 | g.201078909T>C | CA430608124 | NDUFB3 | c.27T>C (p.His9=)
| |
2 | g.201078909T>G | CA350268300 | NDUFB3 | c.27T>G (p.His9Gln)
| |
2 | g.201078910G>A | CA350268306 | NDUFB3 | c.28G>A (p.Gly10Arg)
| |
2 | g.201078910G>C | CA350268313 | NDUFB3 | c.28G>C (p.Gly10Arg)
| |
2 | g.201078910G>T | CA350268309 | NDUFB3 | c.28G>T (p.Gly10Ter)
| |
2 | g.201078911G>A | CA350268316 | NDUFB3 | c.29G>A (p.Gly10Glu)
| |
2 | g.201078911G>C | CA350268319 | NDUFB3 | c.29G>C (p.Gly10Ala)
| |
2 | g.201078911G>T | CA350268324 | NDUFB3 | c.29G>T (p.Gly10Val)
| |
2 | g.201078912A>C | CA430608127 | NDUFB3 | c.30A>C (p.Gly10=)
| |
2 | g.201078912A>G | CA430608128 | NDUFB3 | c.30A>G (p.Gly10=)
| |
2 | g.201078912A>T | CA430608129 | NDUFB3 | c.30A>T (p.Gly10=)
| |
2 | g.201078913C>A | CA350268326 | NDUFB3 | c.31C>A (p.His11Asn)
| |
2 | g.201078913C>G | CA350268329 | NDUFB3 | c.31C>G (p.His11Asp)
| |
2 | g.201078913C>T | CA350268332 | NDUFB3 | c.31C>T (p.His11Tyr)
| COSMIC |
2 | g.201078914A= | CA1320911008 | NDUFB3 | c.32A= (p.His11=)
| |
2 | g.201078914A>C | CA350268334 | NDUFB3 | c.32A>C (p.His11Pro)
| |
2 | g.201078914A>G | CA350268335 | NDUFB3 | c.32A>G (p.His11Arg)
| gnomAD v4 |
2 | g.201078914A>T | CA2052279 | NDUFB3 | c.32A>T (p.His11Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201078915T>A | CA350268339 | NDUFB3 | c.33T>A (p.His11Gln)
| |
2 | g.201078915T>C | CA430608130 | NDUFB3 | c.33T>C (p.His11=)
| |
2 | g.201078915T>G | CA350268341 | NDUFB3 | c.33T>G (p.His11Gln)
| |
2 | g.201078916C>A | CA350268343 | NDUFB3 | c.34C>A (p.His12Asn)
| |
2 | g.201078916C= | CA1320911009 | NDUFB3 | c.34C= (p.His12=)
| |
2 | g.201078916C>G | CA350268342 | NDUFB3 | c.34C>G (p.His12Asp)
| |
2 | g.201078916C>T | CA2052280 | NDUFB3 | c.34C>T (p.His12Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078917A= | CA1320911010 | NDUFB3 | c.35A= (p.His12=)
| |
2 | g.201078917A>C | CA350268345 | NDUFB3 | c.35A>C (p.His12Pro)
| |
2 | g.201078917A>G | CA350268347 | NDUFB3 | c.35A>G (p.His12Arg)
| gnomAD v4 |
2 | g.201078917A>T | CA350268349 | NDUFB3 | c.35A>T (p.His12Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.201078918T>A | CA350268353 | NDUFB3 | c.36T>A (p.His12Gln)
| |
2 | g.201078918T>C | CA430608135 | NDUFB3 | c.36T>C (p.His12=)
| |
2 | g.201078918T>G | CA350268355 | NDUFB3 | c.36T>G (p.His12Gln)
| |
2 | g.201078919A>C | CA350268360 | NDUFB3 | c.37A>C (p.Lys13Gln)
| |
2 | g.201078919A>G | CA350268363 | NDUFB3 | c.37A>G (p.Lys13Glu)
| gnomAD v4 |
2 | g.201078919A>T | CA350268367 | NDUFB3 | c.37A>T (p.Lys13Ter)
| |
2 | g.201078920A>C | CA350268372 | NDUFB3 | c.38A>C (p.Lys13Thr)
| |
2 | g.201078920A>G | CA350268375 | NDUFB3 | c.38A>G (p.Lys13Arg)
| gnomAD v4 |
2 | g.201078920A>T | CA350268378 | NDUFB3 | c.38A>T (p.Lys13Ile)
| |
2 | g.201078921A>C | CA350268383 | NDUFB3 | c.39A>C (p.Lys13Asn)
| |
2 | g.201078921A>G | CA430608137 | NDUFB3 | c.39A>G (p.Lys13=)
| |
2 | g.201078921A>T | CA350268387 | NDUFB3 | c.39A>T (p.Lys13Asn)
| |
2 | g.201078922A>C | CA350268391 | NDUFB3 | c.40A>C (p.Met14Leu)
| |
2 | g.201078922A>G | CA350268394 | NDUFB3 | c.40A>G (p.Met14Val)
| gnomAD v4 |
2 | g.201078922A>T | CA350268397 | NDUFB3 | c.40A>T (p.Met14Leu)
| |
2 | g.201078923T>A | CA350268404 | NDUFB3 | c.41T>A (p.Met14Lys)
| |
2 | g.201078923T>C | CA350268408 | NDUFB3 | c.41T>C (p.Met14Thr)
| |
2 | g.201078923T>G | CA350268412 | NDUFB3 | c.41T>G (p.Met14Arg)
| |
2 | g.201078924G>A | CA350268416 | NDUFB3 | c.42G>A (p.Met14Ile)
| |
2 | g.201078924G>C | CA350268420 | NDUFB3 | c.42G>C (p.Met14Ile)
| |
2 | g.201078924G>T | CA350268423 | NDUFB3 | c.42G>T (p.Met14Ile)
| |
2 | g.201078925G>A | CA350268427 | NDUFB3 | c.43G>A (p.Glu15Lys)
| |
2 | g.201078925G>C | CA350268429 | NDUFB3 | c.43G>C (p.Glu15Gln)
| |
2 | g.201078925G>T | CA350268433 | NDUFB3 | c.43G>T (p.Glu15Ter)
| |
2 | g.201078926A>C | CA350268442 | NDUFB3 | c.44A>C (p.Glu15Ala)
| |
2 | g.201078926A>G | CA350268437 | NDUFB3 | c.44A>G (p.Glu15Gly)
| |
2 | g.201078926A>T | CA350268440 | NDUFB3 | c.44A>T (p.Glu15Val)
| |
2 | g.201078927A>C | CA350268454 | NDUFB3 | c.45A>C (p.Glu15Asp)
| |
2 | g.201078927A>G | CA430608144 | NDUFB3 | c.45A>G (p.Glu15=)
| gnomAD v4 |
2 | g.201078927A>T | CA350268456 | NDUFB3 | c.45A>T (p.Glu15Asp)
| |
2 | g.201078928C>A | CA350268458 | NDUFB3 | c.46C>A (p.Leu16Ile)
| |
2 | g.201078928C>G | CA350268460 | NDUFB3 | c.46C>G (p.Leu16Val)
| |
2 | g.201078928C>T | CA350268462 | NDUFB3 | c.46C>T (p.Leu16Phe)
| |
2 | g.201078929T>A | CA350268466 | NDUFB3 | c.47T>A (p.Leu16His)
| |
2 | g.201078929T>C | CA350268468 | NDUFB3 | c.47T>C (p.Leu16Pro)
| |
2 | g.201078929T>G | CA350268469 | NDUFB3 | c.47T>G (p.Leu16Arg)
| |
2 | g.201078930T>A | CA430608145 | NDUFB3 | c.48T>A (p.Leu16=)
| |
2 | g.201078930T>C | CA430608146 | NDUFB3 | c.48T>C (p.Leu16=)
| |
2 | g.201078930T>G | CA430608148 | NDUFB3 | c.48T>G (p.Leu16=)
| |
2 | g.201078931C>A | CA350268472 | NDUFB3 | c.49C>A (p.Pro17Thr)
| gnomAD v4 |
2 | g.201078931C= | CA1320911011 | NDUFB3 | c.49C= (p.Pro17=)
| |
2 | g.201078931C>G | CA350268474 | NDUFB3 | c.49C>G (p.Pro17Ala)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.201078931C>T | CA350268476 | NDUFB3 | c.49C>T (p.Pro17Ser)
| dbSNP gnomAD v4 |
2 | g.201078932del | CA2662610224 | NDUFB3 | c.50del (p.Pro17GlnfsTer8)
| gnomAD v4 |
2 | g.201078932C>A | CA350268480 | NDUFB3 | c.50C>A (p.Pro17Gln)
| |
2 | g.201078932C>G | CA350268482 | NDUFB3 | c.50C>G (p.Pro17Arg)
| |
2 | g.201078932C>T | CA350268478 | NDUFB3 | c.50C>T (p.Pro17Leu)
| |
2 | g.201078933A= | CA1320911012 | NDUFB3 | c.51A= (p.Pro17=)
| |
2 | g.201078933A>C | CA430608149 | NDUFB3 | c.51A>C (p.Pro17=)
| |
2 | g.201078933A>G | CA63864257 | NDUFB3 | c.51A>G (p.Pro17=)
| dbSNP |
2 | g.201078933A>T | CA430608151 | NDUFB3 | c.51A>T (p.Pro17=)
| |
2 | g.201078934G>A | CA350268486 | NDUFB3 | c.52G>A (p.Asp18Asn)
| |
2 | g.201078934G>C | CA350268487 | NDUFB3 | c.52G>C (p.Asp18His)
| |
2 | g.201078934G>T | CA350268489 | NDUFB3 | c.52G>T (p.Asp18Tyr)
| |
2 | g.201078935A= | CA1320911013 | NDUFB3 | c.53A= (p.Asp18=)
| |
2 | g.201078935A>C | CA350268492 | NDUFB3 | c.53A>C (p.Asp18Ala)
| |
2 | g.201078935A>G | CA350268493 | NDUFB3 | c.53A>G (p.Asp18Gly)
| |
2 | g.201078935A>T | CA350268495 | NDUFB3 | c.53A>T (p.Asp18Val)
| dbSNP |
2 | g.201078936T>A | CA350268498 | NDUFB3 | c.54T>A (p.Asp18Glu)
| |
2 | g.201078936T>C | CA430608153 | NDUFB3 | c.54T>C (p.Asp18=)
| |
2 | g.201078936T>G | CA350268499 | NDUFB3 | c.54T>G (p.Asp18Glu)
| |
2 | g.201078937T>A | CA350268501 | NDUFB3 | c.55T>A (p.Tyr19Asn)
| |
2 | g.201078937T>C | CA350268503 | NDUFB3 | c.55T>C (p.Tyr19His)
| |
2 | g.201078937T>G | CA2052281 | NDUFB3 | c.55T>G (p.Tyr19Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078937T= | CA1320911014 | NDUFB3 | c.55T= (p.Tyr19=)
| |
2 | g.201078938A>C | CA350268507 | NDUFB3 | c.56A>C (p.Tyr19Ser)
| |
2 | g.201078938A>G | CA350268506 | NDUFB3 | c.56A>G (p.Tyr19Cys)
| |
2 | g.201078938A>T | CA350268504 | NDUFB3 | c.56A>T (p.Tyr19Phe)
| |
2 | g.201078939T>A | CA350268510 | NDUFB3 | c.57T>A (p.Tyr19Ter)
| |
2 | g.201078939T>C | CA430608155 | NDUFB3 | c.57T>C (p.Tyr19=)
| |
2 | g.201078939T>G | CA350268512 | NDUFB3 | c.57T>G (p.Tyr19Ter)
| |
2 | g.201078940A>C | CA430608158 | NDUFB3 | c.58A>C (p.Arg20=)
| |
2 | g.201078940A>G | CA350268514 | NDUFB3 | c.58A>G (p.Arg20Gly)
| |
2 | g.201078940A>T | CA350268515 | NDUFB3 | c.58A>T (p.Arg20Ter)
| |
2 | g.201078941G>A | CA350268517 | NDUFB3 | c.59G>A (p.Arg20Lys)
| |
2 | g.201078941G>C | CA350268519 | NDUFB3 | c.59G>C (p.Arg20Thr)
| |
2 | g.201078941G>T | CA350268520 | NDUFB3 | c.59G>T (p.Arg20Ile)
| |
2 | g.201078942A= | CA1320911015 | NDUFB3 | c.60A= (p.Arg20=)
| |
2 | g.201078942A>C | CA350268523 | NDUFB3 | c.60A>C (p.Arg20Ser)
| |
2 | g.201078942A>G | CA430608161 | NDUFB3 | c.60A>G (p.Arg20=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078942A>T | CA350268524 | NDUFB3 | c.60A>T (p.Arg20Ser)
| |
2 | g.201078943C>A | CA350268526 | NDUFB3 | c.61C>A (p.Gln21Lys)
| |
2 | g.201078943C>G | CA350268528 | NDUFB3 | c.61C>G (p.Gln21Glu)
| |
2 | g.201078943C>T | CA350268530 | NDUFB3 | c.61C>T (p.Gln21Ter)
| ClinVar dbSNP |
2 | g.201078944A= | CA1320911016 | NDUFB3 | c.62A= (p.Gln21=)
| |
2 | g.201078944A>C | CA350268534 | NDUFB3 | c.62A>C (p.Gln21Pro)
| |
2 | g.201078944A>G | CA350268536 | NDUFB3 | c.62A>G (p.Gln21Arg)
| dbSNP |
2 | g.201078944A>T | CA350268532 | NDUFB3 | c.62A>T (p.Gln21Leu)
| |
2 | g.201078945A>C | CA350268538 | NDUFB3 | c.63A>C (p.Gln21His)
| |
2 | g.201078945A>G | CA430608165 | NDUFB3 | c.63A>G (p.Gln21=)
| |
2 | g.201078945A>T | CA350268540 | NDUFB3 | c.63A>T (p.Gln21His)
| |
2 | g.201078946T>A | CA350268543 | NDUFB3 | c.64T>A (p.Trp22Arg)
| |
2 | g.201078946T>C | CA2052282 | NDUFB3 | c.64T>C (p.Trp22Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201078946T>G | CA350268544 | NDUFB3 | c.64T>G (p.Trp22Gly)
| |
2 | g.201078946T= | CA1320911017 | NDUFB3 | c.64T= (p.Trp22=)
| |