NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_031427.4(DNAL1):c.*2923dup
|
rs568527612
|
0.00091
|
NM_031427.4(DNAL1):c.*6161_*6162insCA
|
rs886050720
|
0.00025
|
NM_031427.4(DNAL1):c.*5630del
|
rs746876867
|
0.00018
|
NM_031427.4(DNAL1):c.*2600_*2604del
|
rs770668475
|
0.00011
|
NM_031427.4(DNAL1):c.43-4A>G
|
rs748496499
|
0.00004
|
NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp)
|
rs774964160
|
0.00003
|
NM_031427.4(DNAL1):c.22_24del (p.Lys8del)
|
rs779309893
|
0.00002
|
NM_031427.4(DNAL1):c.221T>G (p.Ile74Arg)
|
rs781680294
|
0.00001
|
NM_031427.4(DNAL1):c.264+4G>C
|
rs773731641
|
0.00001
|
NM_031427.4(DNAL1):c.34G>A (p.Ala12Thr)
|
rs763932147
|
0.00001
|
NM_031427.4(DNAL1):c.35C>T (p.Ala12Val)
|
rs948104206
|
0.00001
|
NM_031427.4(DNAL1):c.490G>A (p.Glu164Lys)
|
rs190778454
|
0.00001
|
NC_000014.9:g.(?_73671542)_(73671597_?)del
|
|
|
NM_031427.4(DNAL1):c.*1823del
|
rs59065500
|
|
NM_031427.4(DNAL1):c.*1824del
|
rs886050695
|
|
NM_031427.4(DNAL1):c.*2570del
|
rs746527785
|
|
NM_031427.4(DNAL1):c.*3110_*3111dup
|
rs769560403
|
|
NM_031427.4(DNAL1):c.*334del
|
rs147394906
|
|
NM_031427.4(DNAL1):c.*3356del
|
rs529762916
|
|
NM_031427.4(DNAL1):c.*6137del
|
rs886050714
|
|
NM_031427.4(DNAL1):c.*6138TG[10]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[12]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[14]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[15]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6138TG[16]
|
rs10679978
|
|
NM_031427.4(DNAL1):c.*6147_*6148insCG
|
rs886050719
|
|
NM_031427.4(DNAL1):c.*6216dup
|
rs779734012
|
|
NM_031427.4(DNAL1):c.*6341_*6343del
|
rs886050724
|
|
NM_031427.4(DNAL1):c.*7017dup
|
rs367557905
|
|
NM_031427.4(DNAL1):c.*7414_*7419del
|
rs886050727
|
|
NM_031427.4(DNAL1):c.136A>G (p.Met46Val)
|
rs2140031013
|
|
NM_031427.4(DNAL1):c.16A>G (p.Thr6Ala)
|
|
|
NM_031427.4(DNAL1):c.181G>C (p.Glu61Gln)
|
rs1595207277
|
|
NM_031427.4(DNAL1):c.200A>G (p.Asn67Ser)
|
|
|
NM_031427.4(DNAL1):c.263T>C (p.Leu88Pro)
|
rs2140042513
|
|
NM_031427.4(DNAL1):c.286GAA[1] (p.Glu97del)
|
rs1595224083
|
|
NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser)
|
rs1595225843
|
|
NM_031427.4(DNAL1):c.503del (p.Lys168fs)
|
rs1294769916
|
|
NM_031427.4(DNAL1):c.516del (p.Lys172fs)
|
|
|
NM_031427.4(DNAL1):c.530A>G (p.Asp177Gly)
|
rs1892115500
|
|
NM_031427.4(DNAL1):c.533-2A>G
|
rs1555403597
|
|
NM_031427.4(DNAL1):c.559G>A (p.Glu187Lys)
|
|
|