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Showing all entries involving gene α1 (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2252 | --BR | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
2555 | α12 (HBA2 gene conversion) | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
2561 | Triplicated α (anti-3.7) (ααα(anti-3.7)) | N/A | N/A | α2, α1 | Modifier | α-thalassaemia, Anaemia | NG_000006.1 | |
2569 | Triplicated α (anti-4.2) (ααα(anti-4.2)) | N/A | N/A | α2, α1 | Modifier | Anaemia | NG_000006.1 | |
3408 | --60.2 | N/A | NC_000016.9:g.197577_257872del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
3588 | --OY | N/A | NC_000016.10:g.0_318539del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
3622 | --71.8 (71.8 Kb deletion) | N/A | NC_000016.10:g.138971_210817del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
301 | -α4.2 | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
302 | -α2.4 | N/A | N/A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
307 | -α18 (18 kb deletion) | N/A | N/A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
316 | -(α)5.2 | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
322 | --CI (28+ kb deletion.) | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
324 | --115 | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
326 | --YEM | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
329 | --KOL | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
330 | --11.1 (11.1 kb deletion) | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
331 | --OH | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2230 | -α3.7 (type II) | N/A | N/A | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2231 | -α3.7 (type III) | N/A | N/A | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2235 | α-αΔ970 (970 bp deletion) | N/A | N/A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2236 | --DUTCH I | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2237 | --AW | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2238 | --BGS | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2239 | --CAMPANIA | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2240 | --FIL-2 (27.9 deletion) | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2241 | --ED | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2242 | --GP | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2253 | --ZW | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2254 | --JY | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2255 | --LC | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2256 | --VR | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2257 | --JT | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2258 | --AB | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2259 | --GZ | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2260 | Dutch II | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2261 | --MK | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2262 | --80 | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2263 | α-ZF | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2264 | --Brazil | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2265 | --PV | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2266 | --HN | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2267 | --FT | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2268 | --BA | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2269 | --TN | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2270 | --BO | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2271 | --IM | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2272 | --LIN | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2273 | --GS | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
2567 | BS duplication | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
2568 | FD duplication | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
2570 | Sardinian duplication | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3021 | --JAL | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3022 | --LOD | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3067 | --MEX1 | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3068 | --MEX2 | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3070 | αααα282 | N/A | N/A | HS40, ζ, α2, α1, NPRL3 | Causative | β-thalassaemia | NG_000006.1 | 0 |
3071 | --235 | N/A | N/A | HS40, ζ, α2, α1, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3076 | αααα391 | N/A | N/A | HS40, ζ, α2, α1 | Causative | β-thalassaemia | NG_000006.1 | 0 |
3214 | 44.6 kb deletion | N/A | NC_000016.9:g.194214_238840del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3215 | --Braz | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3244 | −KOZANI | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3255 | --MEX3 | N/A | NC_000016.10:g.151479_182582del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
3258 | --NFLD | N/A | NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3265 | α-globin cluster triplication | N/A | N/A | HS40, ζ, α2, α1, HBM | Causative | β-thalassaemia | NG_000006.1 | 0 |
3273 | --VS | N/A | N/A | HS40, ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3274 | --CBR | N/A | N/A | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
3283 | --JS | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
3284 | --PG | N/A | NG_000006.1:g.93628_542759del450131 | HS40, ζ, α2, α1, NPRL3, HBM, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3292 | 15 kb deletion | N/A | N/A | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3294 | 22 kb deletion | N/A | N/A | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3295 | 225 kb deletion | N/A | N/A | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3296 | --GB | N/A | N/A | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
3327 | --GX | N/A | N/A | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
3432 | Hkαα | N/A | N/A | α2, α1, α3.7 hybrid | Neutral | N/A | NG_000006.1 | 0 |
3433 | anti-Hkαα | N/A | N/A | α2, α1 | Neutral | N/A | NG_000006.1 | 0 |
3514 | 170 kb deletion | N/A | N/A | α2, α1, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
327 | --MC | N/A | NG_000006.1:g.164_43364del43201 | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 164 |
3607 | 63 Kb deletion | N/A | NC_000016.10:g.(143655_149367)_(181204_206338)del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 4518 |
3595 | --CR | Hb Chiang Rai | NC_000016.10:g.144215_188843del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 5078 |
323 | --CAL | N/A | NG_000006.1:g.8464_40664del32201 | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8464 |
313 | --MED II | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8726 |
3020 | --DANE | N/A | NG_000006.1: g.8800_40007del31208 | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 8800 |
310 | --THAI | N/A | NC_000016.10:g.149863_183312del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 10726 |
325 | --RT | N/A | NG_000006.1:g.12264_49164del36901 | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12264 |
311 | --FIL | N/A | NC_000016.10:g.151641_182316del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12504 |
321 | --CL | N/A | NG_000006.1:g.13314_124664del111351 | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 13314 |
320 | --BRIT | N/A | NG_000006.1:g.16364_45664del29301 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 16364 |
314 | -(α)20.5 | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18200 |
319 | --MA | N/A | NG_000006.1:g.18964_39864del20901 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18964 |
315 | --SA | N/A | NG_000006.1:g.19464_43064del23601 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 19464 |
312 | --MED I | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 23662 |
309 | --SEA | N/A | NG_000006.1:g.26264_45564del19301 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 26264 |
328 | --CANT | N/A | NC_000016.10:g.(168531_169756)_(182770_183028)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 29394 |
318 | --SPAN | N/A | NC_000016.10:g.(169756_170100)_(179044_181595)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30619 |
3018 | --NOR | N/A | NC_000016.10:g.170678_184085del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 31541 |
3360 | 9.7 kb deletion | N/A | NG_000006.1:g.32709_42418del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32709 |
317 | --GEO | N/A | NG_000006.1:g.32864_42264del9401 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32864 |
2499 | CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur) | Hb J-Paris-I | HBA1:c.38C>A | α1 | Causative | α-chain variant | NG_000006.1 | 33813 |
2500 | CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai) | Hb Hasharon | HBA1:c.142G>C | α1 | Causative | α-chain variant | NG_000006.1 | 34034 |
2501 | CD 50 CAC>CAA or CAG [His>Gln] | Hb Frankfurt | HBA1:c.153C>A | HBA1:c.153C>G | α1 | Causative | α-chain variant | NG_000006.1 | 34045 |
300 | -α3.7 (type I) (-α3.7) | N/A | NG_000006.1:g.34164_37967del3804 | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34164 |
2416 | CD 99 AAG>ATG [Lys>Met] | N/A | HBA1:c.299A>T | α1 | Causative | α-chain variant | NG_000006.1 | 34191 |
2991 | CD 108 ACC>AAC [Thr>Asn] | Hb Rogliano | HBA1:c.326C>A | α1 | Causative | α-chain variant | NG_000006.1 | 34360 |
398 | CD 109 (-C) | N/A | HBA1:c.328delC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34362 |
2571 | CD 109 CTG>CCG [Leu>Pro] | Hb Milano | HBA1:c.329T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34363 |
303 | -α2.7 | N/A | NG_000006.1:g.36664_39364del2701 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 36664 |
3072 | 125 bp deletion | N/A | NG_000006.1: g.37040_37164del | α1 | Neutral | N/A | NG_000006.1 | 37040 |
304 | -α3.5 | N/A | NG_000006.1:g.37464_40964del3501 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37464 |
3740 | -5 C>T | N/A | HBA1:c.-42C>T | α1 | Neutral | α-thalassaemia | NG_000006.1 | 37538 |
3614 | CAP +14 C>G | N/A | HBA1:c.-24C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37556 |
340 | CAP +22 T>C | N/A | HBA1:c.-16T>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37564 |
3735 | Cap +23 C>G | N/A | HBA1:c.-15C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37565 |
2203 | CAP +29 (G>C) | N/A | HBA1:c.-9G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37571 |
341 | Init CD ATG>GTG | N/A | HBA1:c.1A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37580 |
3147 | Init CD ATG>AAG [Met>Lys] | N/A | HBA1:c.2T>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37581 |
3250 | Init CD ATG>A-G | N/A | HBA1:c.2delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
3719 | Init CD ATG>ACG [Met>Thr] | N/A | HBA1:c.2T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
429 | CD 1 GTG>TTG [Val>Leu] | Hb Baldock | HBA1:c.4G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37583 |
3699 | CD 2 CTG>CCG [Leu>Pro] | Hb Kaiser West End | HBA1:c.8T>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37587 |
2352 | CD 2/3 +CTG [+Leu] | Hb Pittsburgh | HBA1:c.9_10insCTG | α1 | Causative | α-chain variant | NG_000006.1 | 37588 |
437 | CD 3 TCT>TTT [Ser>Phe] | Hb Douala | HBA1:c.11C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37590 |
442 | CD 6 GAC>TAC [Asp>Tyr] | Hb Woodville | HBA1:c.19G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37598 |
444 | CD 6 GAC>CAC [Asp>His] | Hb Galliera I | HBA1:c.19G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37598 |
2987 | CD 9 AAC>GAC [Asn>Asp] | Hb Farnborough | HBA1:c.28A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37607 |
453 | CD 9 AAC>AGC [Asn>Ser] | Hb Anadour | HBA1:c.29A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37608 |
456 | CD 9 AAC>AAG or AAA [Asn>Lys] | Hb Delfzicht | HBA1:c.30C>G | HBA1:c.30C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37609 |
2386 | CD 13 GCC>ACC [Ala>Thr] | Hb Olivet | HBA1:c.40G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37619 |
347 | CD 14 TGG>CGG [Trp>Arg] | Hb Evanston | HBA1:c.43T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37622 |
349 | CD 14 TGG>TAG [Trp>STOP] | N/A | HBA1:c.44G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37623 |
2380 | CD 14 TGG>TTG [Trp>Leu] | Hb Basel | HBA1:c.44G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37623 |
3615 | CD 14 TGG>TAG | N/A | HBA1:c.44G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37623 |
2365 | CD 15 GGT>TGT [Gly>Cys] | Hb St. Rose | HBA1:c.46G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37625 |
466 | cd 15 GGT>GAT [Gly>Asp] (Hb J-Oxford , Hb N-Cosenza) | Hb I-Interlaken | HBA1:c.47G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37626 |
2509 | CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington , Hb I-Philadelphia , Hb I-Skamania , Hb I-Texas) | HbI | HBA1:c.49A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37628 |
3395 | CD 16 AAG>TAG [Lys>STOP] | N/A | HBA1:c.49A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37628 |
471 | CD 18 GGC>CGC [Gly>Arg] | Hb Handsworth | HBA1:c.55G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
2353 | CD 18 GGC>TGC [Gly>Cys] | Hb Lima | HBA1:c.55G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
3000 | CD 18 GGC>AGC [ Gly>Ser] | Hb King Ecgbert | HBA1:c.55G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
2205 | CD 20 +T | N/A | HBA1:c.62_63insT | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37641 |
2285 | CD 20 CAC>CCC | Hb Fulton-Georgia | HBA1:c.62A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37641 |
2317 | CD 20 CAC>CAA [His>Gln] (Hb Le Lamentin) | Hb Brugg | HBA1:c.63C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37642 |
3266 | CD 22 GGC>GGT [Gly>Gly] | N/A | HBA1:c.69C>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37648 |
3267 | CD 23 GAG>TAG | N/A | HBA1:c.70G>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37649 |
491 | CD 24 TAT>TGT [Tyr>Cys] | Hb Ramona | HBA1:c.74A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37653 |
2510 | CD 27 GAG>GAC [Glu>Asp] | Hb Hekinan | HBA1:c.84G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37663 |
2983 | CD 27 GAG>GAT [Glu>Asp] | Hb Hekinan II | HBA1:c.84G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37663 |
2995 | CD 28 GCC>ACC [Ala>Thr] | Hb Bramall Lane | HBA1:c.85G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37664 |
3032 | CD 28 GCC>TCC [Ala>Ser] | N/A | HBA1:c.85G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37664 |
2313 | CD 28 GCC>GTC [Ala>Val] | Hb Nedlands | HBA1:c.86C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37665 |
2310 | CD 29 CTG>GTG [Leu>Val] | Hb Kosovo | HBA1:c.88C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37667 |
3030 | CD 30 GAG>TAG | N/A | HBA1:c.91G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37670 |
504 | CD 30 GAG>GCG [Glu>Ala] | Hb Bom Jesus da Lapa | HBA1:c.92A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37671 |
505 | CD 30 GAG>GTG [Glu>Val] | Hb Itapira | HBA1:c.92A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37671 |
365 | CD 31 AGG>--G | N/A | HBA1:c.92_93delAG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37673 |
2402 | CD 31 AGG>ACG [Arg>Thr] | Hb Mao | HBA1:c.95G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37674 |
358 | IVS I-1 AGGT>AGAT donor | N/A | HBA1:c.95+1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37675 |
3049 | IVS I-1 AGGT>AGCT donor | N/A | HBA1:c.95+1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37675 |
2204 | IVS I-4 A>G | N/A | HBA1:c.95+4A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37678 |
361 | IVS I-5 G>A | N/A | HBA1:c.95+5 G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37679 |
3431 | IVS I-38 C>T | N/A | HBA1:c.95+38C>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37712 |
2212 | IVS I-45 G>C | N/A | HBA1:c.95+45G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37719 |
2451 | IVS I-116 A>G | N/A | HBA1:c.96-2A>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37790 |
364 | IVS I-117 GCAGGA>GCAAGA acceptor | N/A | HBA1:c.96-1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37791 |
3251 | IVS I-117 GCAGGA>GCACGA acceptor | N/A | HBA1:c.96-1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37791 |
2381 | CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya) | Hb Queens Park | HBA1:c.98T>A | α1 | Causative | α-chain variant | NG_000006.1 | 37794 |
2986 | CD 32 ATG>ACG [Met>Thr] | Hb Bridlington | HBA1:c.98T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37794 |
3252 | CD 32 ATG>ATA [Met>Ile] | Hb Amsterdam-A1 | HBA1:c.99G>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37795 |
2968 | CD 36 TTC>TAC [ Phe>Tyr] | Hb Kempten | HBA1:c.110T>A | α1 | Causative | α-chain variant | NG_000006.1 | 37806 |
370 | CD 37 -CCC [-Pro) | Hb Heraklion | HBA1:c.112_114delCCC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37808 |
371 | CD 38/39 -ACC [-Thr] | Hb Taybe | HBA1:c.118_120delACC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37814 |
522 | CD 40 AAG>ACG [Lys>Thr] | Hb Pisa | HBA1:c.122A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37818 |
523 | CD 40 AAG>AAC [Lys>Asn] | Hb Saratoga Springs | HBA1:c.123G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37819 |
2385 | CD 42 TAC>TCC [Tyr>Ser] | Hb Erzeroum | HBA1:c.128A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37824 |
3557 | CD 43 TTC>CTC [Phe>Leu] | Hb Vanvitelli | HBA1:c.130T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37826 |
530 | CD 44 CCG>GCG [Pro>Ala] (Hb Milne) | Hb Hagerstown | HBA1:c.133C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37829 |
3264 | CD 44 CCG>TCG [Pro>Ser] | Hb Wiangpapao | HBA1:c.133C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37829 |
2468 | CD 44 +C | N/A | HBA1:c.134_135insC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37830 |
536 | CD 45 CAC>CGC [His>Arg] | Hb Fort de France | HBA1:c.137A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37833 |
3040 | CD 48 CTG>CGG [Leu>Arg] | Hb Montgomery | HBA1:c.146T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37842 |
3026 | CD 49 AGC>CGC [Ser>Arg] | Hb Puerta del Sol | HBA1:c.148A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37844 |
2993 | CD 49 AGC>AAC [Ser>Asn] | Hb Furuset | HBA1:c.149G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37845 |
2529 | CD 50 +GGAGCC | Hb Bakersfield | HBA1:c.151_152insGGAGCC | α1 | Causative | α-chain variant | NG_000006.1 | 37847 |
553 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton | HBA1:c.154G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
2502 | CD 51 GGC>CGC [Gly>Arg] | Hb Russ | HBA1:c.154G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
375 | CD 51-55 (-13 bp deletion) | N/A | HBA1:c.155_167delGCTCTGCCCAGGT | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37851 |
556 | CD 51-58 or 52-59 (-24bp) | Hb J-Biskra | HBA1:c.157_180del | α1 | Causative | α-chain variant | NG_000006.1 | 37853 |
3442 | CD 51-58 (+24 bp) | Hb Choisy | HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC | α1 | Causative | α-chain variant | NG_000006.1 | 37853 |
3560 | CD 52 TCT>TGT [Ser>Cys] | Hb Dongguan | HBA1:c.158C>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37854 |
3626 | CD 54 CAG>CAT [Gln>His] | Hb Goole | HBA1:c.165G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37861 |
561 | CD 55 GTT>CTT [Val>Leu] (Hb Poland) | Hb Roubaix | HBA1:c.166G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37862 |
562 | CD 55 GTT>GCT [Val>Ala] (Hb Gerland 1) | Hb Gerland | HBA1:c.167T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37863 |
3075 | CD 56/57 (+24bp) (HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH) | Hb Kaohsiung Veterans General Hospital | HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
3175 | CD 58 CAC>CTC [His>Leu] | Hb Kirklareli | HBA1:c.176A>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37872 |
573 | CD 59 GGC>AGC [Gly>Ser] | Hb Parma | HBA1:c.178G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37874 |
3280 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA1:c.178G>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37874 |
378 | CD 59 GGC>GAC [Gly>Asp] | Hb Adana | HBA1:c.179G>A | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37875 |
3624 | CD 60 AAG>GAG [Lys>Glu] | Hb Liuzhou | HBA1:c.182A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37878 |
380 | CD 60/61 -AAG [-Lys] | Hb Clinic | HBA1:c.184_186delAAG | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37880 |
3334 | CD 61 AAG>TAG [Lys>STOP] | N/A | HBA1:c.184A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
3717 | CD 61 AAG>-AG | N/A | HBA1:c.184del | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
2982 | CD 61 AAG>AGG [Lys>Arg] | Hb Derby | HBA1:c.185A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37881 |
381 | CD 62 -GTG [-Val] | Hb Aghia Sophia | HBA1:c.187_189delGTG | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37883 |
382 | CD 62 GTG>-TG | Hb Champaign | HBA1:c.187delG | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37883 |
2429 | CD 62 GTG>GCG [Val>Ala] | N/A | HBA1:c.188T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37884 |
2347 | CD 62 -G | N/A | HBA1:c.189delG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37885 |
3015 | CD 63 GCC>ACC [Ala>Thr] | Hb Greenville-NC | HBA1:c.190G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37886 |
383 | CD 64-74 (-33 bp) | N/A | HBA1:c.193_225del33 | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37889 |
587 | CD 64 GAC>CAC [Asp>His] | Hb Q-India | HBA1:c.193G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37889 |
2528 | CD 64 GAC>AAC [Asp>Asn] (Hb Burgos) | Hb Wädenswil | HBA1:c.193G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37889 |
2455 | CD 64 GAC>GCC [Asp>Ala] | Hb Lucan | HBA1:c.194A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37890 |
3373 | CD 67 ACC>-CC | N/A | HBA1:c.202delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37898 |
594 | CD 68 AAC>CAC [Asn>His] | Hb Jeddah | HBA1:c.205A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37901 |
597 | CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn] | Hb Esch | HBA1:c.207_208insGCGCTGACCAAC | α1 | Causative | α-chain variant | NG_000006.1 | 37904 |
599 | CD 70 GTG>ATG [Val>Met] | Hb Haaksbergen | HBA1:c.211G>A | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37907 |
385 | CD 74/75 -GAC [- Asp] | N/A | HBA1:c.212_214delGAC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37908 |
2358 | CD 71 GCG>GTG [Ala>Val] | Hb Allison Park | HBA1:c.215C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37911 |
3312 | CD 72 CAC>CAG [His>Gln] | Hb Madonie | HBA1:c.219C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37915 |
2996 | CD 73 GTG>ATG [Val>Met] | Hb Argenteuil | HBA1:c.220G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37916 |
3326 | CD 73 GTG>G-G | N/A | HBA1:c.221delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37917 |
607 | CD 74 GAC>CAC [Asp>His] (Hb Asabara , Hb G-Taichung , Hb Kurashiki-I , Hb Mahidol) | Hb Q-Thailand | HBA1:c.223G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37919 |
608 | CD 74 GAC>GTC [Asp>Val] | Hb Les Lilas | HBA1:c.224A>T | α1 | Causative | α-chain variant | NG_000006.1 | 37920 |
609 | CD 74 GAC>GGC [Asp>Gly] | Hb Chapel Hill | HBA1:c.224A>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37920 |
2503 | CD 75 GAC>TAC [Asp>Tyr] | Hb Winnipeg | HBA1:c.226G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37922 |
2485 | CD 77 CCC>TCC [Pro>Ser] | Hb Nile | HBA1:c.232C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37928 |
2504 | CD 77 CCC>CAC [Pro>His] | Hb Toulon | HBA1:c.233C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37929 |
625 | CD 78 AAC>CAC [Asn>His] | Hb Davenport | HBA1:c.235A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37931 |
386 | CD 78 -C | N/A | HBA1:c.237delC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37933 |
2505 | CD 78 AAC>AAG [Asn>Lys] | Hb Stanleyville-II | HBA1:c.237C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37933 |
387 | CD 82-84 (-9 bp) | N/A | HBA1:c.247_255del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37943 |
633 | CD 82 GCC>ACC (Ala>Thr) | Hb Hagley Park | HBA1:c.247G>A | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37943 |
641 | CD 85 GAC>CAC [Asp>His] | Hb Canuts | HBA1:c.256G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37952 |
2336 | CD 86 CTG>GTG [Leu>Val] | N/A | HBA1:c.259C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37955 |
647 | CD 87 CAC>GAC [His>Asp] | Hb Bonn | HBA1:c.262C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37958 |
2506 | CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee , Hb M-Oldenburg , Hb M-Sendai) | Hb M-Iwate | HBA1:c.262C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37958 |
3434 | CD 87 CAC>CAG [His>Gln] | Hb Lansing-Ramathibodi | HBA1:c.264C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37960 |
658 | CD 89 CAC>CAG [His>Gln] | Hb Buffalo | HBA1:c.270C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37966 |
3630 | CD 90 AAG>CAG [Lys>Gln] | Hb Luocheng | HBA1:c.271A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37967 |
662 | CD 90 AAG>AGG [Lys>Arg] | Hb Clinico Madrid II | HBA1:c.272A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37968 |
663 | CD 90 AAG>ACG | Hb J-Rajappen | HBA1:c.272A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37968 |
665 | CD 91 CTT>TTT [Leu>Phe] (Hb Grey Lynn) | Hb Vientiane | HBA1:c.274C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37970 |
390 | CD 93-99 (+21 bp) | N/A | HBA1:c.280_300ins21 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37976 |
672 | CD 93 GTG>GCG [Val>Ala] | Hb Die | HBA1:c.281T>C | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37977 |
2507 | CD 94 GAC>AAC [Asp>Asn] | Hb Titusville | HBA1:c.283G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37979 |
2539 | CD 94 (+21 bp duplication) | Hb SKMC | HBA1:c.283_300+3dup | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37979 |
678 | CD 94 GAC>GGC [Asp>Gly] | Hb Çapa | HBA1:c.284A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37980 |
684 | CD 95 CCG>CGG [Pro>Arg] | Hb St. Luke's | HBA1:c.287C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
685 | CD 95 CCG>CAG [Pro>Gln] | Hb Wichita | HBA1:c.287C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
3718 | CD 95 CCG>CTG [Pro>Leu] | Hb Georgia | HBA1:c.287C>T | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
2357 | CD 96 GTC>CTC [Val>Leu] | Hb Woodstock | HBA1:c.289G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37985 |
2467 | CD 99 AAG>TAG | N/A | HBA1:c.298A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37994 |
691 | CD 99 AAG>AAT [Lys>Asn] (Hb Harlow) | Hb Beziers | HBA1:c.300G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37996 |
3031 | IVS II-1 G>A | N/A | HBA1:c.300+1G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37997 |
3148 | IVS II-3 +21nt | N/A | HBA1:c.302_303insGACCCGGTCAACTTCAAGGTG | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 38000 |
3736 | IVS II-55 G>T | N/A | HBA1:c.300+55G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 38051 |
3737 | IVS II-58 G>A | N/A | HBA1:c.300+58G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 38054 |
3738 | IVS II-141 T>C | N/A | HBA1:c.301-9T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 38137 |
2222 | IVS II-147 C>G | N/A | HBA1:c.301-3C>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38143 |
393 | IVS II-148 A>G consensus | N/A | HBA1:c.301-2A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38144 |
2303 | CD 100 CTC>TTC (Leu>Phe) | Hb Weesp | HBA1:c.301C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38146 |
2305 | CD 100 CTC>CCC [Leu>Pro] | Hb Corsica | HBA1:c.302T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38147 |
2985 | CD 102 AGC>CGC [Ser>Arg] | Hb Manitoba IV | HBA1:c.307A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38152 |
693 | CD 102 AGC>AGA [Ser>Arg] | Hb Manitoba II | HBA1:c.309C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38154 |
695 | CD 103 CAC>TAC [His>Tyr] | Hb Charolles | HBA1:c.310C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38155 |
2532 | CD 103 CAC>GAC [His>Asp] | Hb Illinois | HBA1:c.310C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38155 |
395 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA1:c.313T>A | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38158 |
2340 | CD 104 TGC>TGG [Cys>Trp] | Hb Donnington | HBA1:c.315C>G | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38160 |
701 | CD 106 CTG>CCG [Leu>Pro] | Hb Charlieu | HBA1:c.320T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38165 |
2224 | CD 110-114 (-13 bp) | N/A | HBA1:c.333_345delCGCCCACCTCCCC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38178 |
2377 | CD 112 CAC>CAA [His>Gln] | Hb West Allis | HBA1:c.339C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38184 |
3378 | CD 114 CCC>CAC [Pro>His] | Hb Hubei | HBA1:c.344C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38189 |
2322 | CD 115 GCC>GTC [Ala>Val] | Hb Palmela | HBA1:c.347C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38192 |
720 | CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X, Hb Oliviere) | Hb O-Indonesia | HBA1:c.349G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38194 |
724 | CD 117/118 +ATC [+Ile] | Hb Phnom Penh | HBA1:c.354_355insATC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38199 |
3036 | CD 117/118 +TCA [+Ser] | Hb Wexham | HBA1:c.354_355insTCA | α1 | Causative | α-chain variant | NG_000006.1 | 38199 |
406 | CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda) | Hb Groene Hart | HBA1:c.358C>T | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38203 |
726 | CD 119 CCT>CTT [Pro>Leu] | Hb Diamant | HBA1:c.359C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38204 |
2508 | CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham) | Hb J-Meerut | HBA1:c.362C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38207 |
729 | CD 122 CAC>TAC [His>Tyr] | Hb Yanase | HBA1:c.367C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38212 |
3751 | CD 122 CAC>GAC [His>Asp] | Hb Daxin | HBA1:c.367C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38212 |
407 | CD 123 GCC >CCC [Ala>Pro] | Hb Voreppe | HBA1:c.370G>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38215 |
733 | CD 123 GCC>TCC [Ala>Ser] | Hb Mulhacen | HBA1:c.370G>T | α1 | Causative | α-chain variant | NG_000006.1 | 38215 |
3016 | CD 123 GCC>GTC [Ala>Val] | Hb Louisa | HBA1:c.371C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38216 |
2984 | CD124 TCC>TGC [Ser>Cys] | Hb Harehills | HBA1:c.374C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38219 |
2414 | CD 125 CTG>CCG [Leu>Pro] | Hb Quong Sze II | HBA1:c.377T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38222 |
738 | CD 126 GAC>CAC [Asp>His] | Hb Sassari | HBA1:c.379G>C | α1 | Causative | α-chain variant | NG_000006.1 | 38224 |
2408 | CD 126 GAC>GCC [Asp>Ala] | Hb Verdun | HBA1:c.380A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38225 |
743 | CD 126 GAC>GAG [Asp>Glu] | Hb Burlington | HBA1:c.381C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38226 |
3380 | CD 127 AAG>GAG [Lys>Glu] | Hb Shantou | HBA1:c.382A>G | α1 | Causative | α-chain variant | NG_000006.1 | 38227 |
411 | CD 129 CTG>CCG [Leu>Pro] | Hb Tunis-Bizerte | HBA1:c.391T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38236 |
749 | CD 130 GCT>GTT [Ala>Val] | Hb Westborough | HBA1:c.392C>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 38237 |
3281 | CD 130 (+T) | Hb Sichuan | HBA1:c.393_394insT | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38238 |
752 | CD 131 TCT>TTT | Hb Lusaka | HBA1:c.395C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38240 |
416 | CD 131 (+T) >175aa | Hb Pak Num Po | HBA1:c.396_397insT | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38241 |
753 | CD 131 TCT>TC- | Hb Fez | HBA1:c.396delT | α1 | Causative | α-chain variant | NG_000006.1 | 38241 |
3695 | CD 131 TCT>TCC [Ser>Ser] | N/A | HBA1:c.396T>C | α1 | Neutral | N/A | NG_000006.1 | 38241 |
2323 | CD 132 GTG>ATG [Val>Met] | Hb Portimão | HBA1:c.397G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38242 |
3723 | CD 132 GTG>GCG [Val>Ala] | N/A | HBA1:c.398T>C | α1 | Causative | α-chain variant | NG_000006.1 | 38243 |
760 | CD 134 -C | Hb Senlis | HBA1:c.404delC | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 38249 |
762 | CD 135 GTG>CTG [Val>Met] | Hb Trenton | HBA1:c.406G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38251 |
3724 | CD 136 CTG>CAG [Leu>Gln] | N/A | HBA1:c.410T>A | α1 | Causative | α-chain variant | NG_000006.1 | 38255 |
767 | CD 137 ACC>CCC [Thr>Pro] | Hb Verona | HBA1:c.412A>C | α1 | Causative | α-chain variant | NG_000006.1 | 38257 |
769 | CD 138 TCC>TGC [Ser>Cys] | Hb Ecuador | HBA1:c.416C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38261 |
771 | CD 139 AAA>GAA [Ala>Glu] | Hb Hanamaki-1 | HBA1:c.418A>G | α1 | Causative | α-chain variant | NG_000006.1 | 38263 |
3302 | +778 C>A | N/A | HBA1:c.*46C>A | α1 | Neutral | N/A | NG_000006.1 | 38320 |
2225 | Poly A (G>A) AATAAAG>AATAAAA | N/A | HBA1:c.*96G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38370 |
3739 | TTS +23 (+T) | N/A | HBA1:c.*134_*135insT | α1 | Causative | α-thalassaemia | NG_000006.1 | 38408 |
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IthaGenes was last updated on 2021-03-05 12:55:33