|
NC_000009.11:g.(?_111693257)_(111693446_?)dup
|
rs0 |
|
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile)
|
rs918763626 |
|
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
|
rs187183483 |
|
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe)
|
rs774132326 |
|
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val)
|
rs1564096412 |
|
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly)
|
rs766255360 |
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360 |
|
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser)
|
rs1273486554 |
|
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln)
|
rs369242781 |
|
NM_003640.5(ELP1):c.1251A>G (p.Gln417=)
|
rs763812233 |
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833 |
|
NM_003640.5(ELP1):c.1436_1438CTC[1] (p.Pro480del)
|
rs746116617 |
|
NM_003640.5(ELP1):c.1460+3A>G
|
rs1564093432 |
|
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu)
|
rs779307491 |
|
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu)
|
rs143494120 |
|
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)
|
rs766737737 |
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143 |
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070 |
|
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg)
|
rs886063347 |
|
NM_003640.5(ELP1):c.1854+3A>G
|
rs773379221 |
|
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)
|
rs764320309 |
|
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)
|
rs756120509 |
|
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu)
|
rs761858315 |
|
NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp)
|
rs0 |
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933 |
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658 |
|
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu)
|
rs1564085701 |
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233 |
|
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile)
|
rs182287137 |
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880 |
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264 |
|
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)
|
rs1587893028 |
|
NM_003640.5(ELP1):c.235G>C (p.Asp79His)
|
rs1554703582 |
|
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met)
|
rs201596987 |
|
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)
|
rs370041985 |
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151 |
|
NM_003640.5(ELP1):c.2588-6T>G
|
rs1350078150 |
|
NM_003640.5(ELP1):c.270A>T (p.Gly90=)
|
rs200640674 |
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635 |
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269 |
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807 |
|
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)
|
rs749200669 |
|
NM_003640.5(ELP1):c.303+3A>G
|
rs766433871 |
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377 |
|
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn)
|
rs1554694121 |
|
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)
|
rs972475636 |
|
NM_003640.5(ELP1):c.322G>A (p.Val108Ile)
|
rs192047457 |
|
NM_003640.5(ELP1):c.3285+6A>T
|
rs1465325866 |
|
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)
|
rs761896714 |
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754 |
|
NM_003640.5(ELP1):c.3572+5G>C
|
rs773132143 |
|
NM_003640.5(ELP1):c.3572+5G>T
|
rs773132143 |
|
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln)
|
rs764936574 |
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046 |
|
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
|
rs199813856 |
|
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg)
|
rs1554737851 |
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768 |
|
NM_003640.5(ELP1):c.3931+1G>A
|
rs143674809 |
|
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys)
|
rs1554735745 |
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768 |
|
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly)
|
rs758442235 |
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387 |
|
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro)
|
rs367552387 |
|
NM_003640.5(ELP1):c.649+3A>G
|
rs1554701323 |
|
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala)
|
rs1356812138 |
|
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
|
rs1274927283 |
|
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)
|
rs371587578 |
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523 |
|
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu)
|
rs770755917 |