NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
NM_052989.3(IFT122):c.272+1G>A
|
rs372483083
|
0.00007
|
NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys)
|
rs201638429
|
0.00005
|
NM_004260.4(RECQL4):c.2650del (p.Gln884fs)
|
rs1203766600
|
0.00005
|
NM_020779.4(WDR35):c.2415-2A>G
|
rs143550695
|
0.00005
|
NM_020779.4(WDR35):c.1255+1G>A
|
rs371669862
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
|
rs199622112
|
0.00004
|
NM_001142784.3(IL11RA):c.810G>A (p.Thr270=)
|
rs1258408605
|
0.00003
|
NM_004260.4(RECQL4):c.1259-1G>A
|
rs372380880
|
0.00003
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00003
|
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)
|
rs183758503
|
0.00003
|
NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe)
|
rs369630361
|
0.00002
|
NM_004260.4(RECQL4):c.3393+2T>G
|
rs557284122
|
0.00002
|
NM_004260.4(RECQL4):c.3394-1G>C
|
rs752301125
|
0.00002
|
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln)
|
rs200140363
|
0.00002
|
NM_052989.3(IFT122):c.1148-1G>C
|
rs755005244
|
0.00002
|
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg)
|
rs387906785
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_004260.4(RECQL4):c.1132-1G>A
|
rs751503394
|
0.00001
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00001
|
NM_004260.4(RECQL4):c.1704+2T>C
|
rs772896860
|
0.00001
|
NM_004260.4(RECQL4):c.1913T>C (p.Leu638Pro)
|
rs977450143
|
0.00001
|
NM_004260.4(RECQL4):c.2463+1G>A
|
rs1295396384
|
0.00001
|
NM_004260.4(RECQL4):c.2755+1G>A
|
rs373130543
|
0.00001
|
NM_004260.4(RECQL4):c.3056-2A>C
|
rs786200889
|
0.00001
|
NM_004260.4(RECQL4):c.3236+1G>A
|
rs1327061374
|
0.00001
|
NM_006494.4(ERF):c.247C>T (p.Arg83Trp)
|
rs766762597
|
0.00001
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
NM_025132.4(WDR19):c.2363+1G>A
|
rs886041912
|
0.00001
|
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)
|
rs587777351
|
0.00001
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro)
|
rs372355939
|
0.00001
|
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)
|
rs1185183557
|
0.00001
|
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3
|
|
|
GRCh37/hg19 2p25.2-25.1(chr2:5689487-7379378)x3
|
|
|
GRCh37/hg19 2q22.1(chr2:138458639-141918297)x1
|
|
|
GRCh37/hg19 7p21.1(chr7:17930686-19059254)x1
|
|
|
NC_000008.10:g.(?_145738591)_(145742902_?)dup
|
|
|
NC_000008.10:g.(?_145739619)_(145739814_?)del
|
|
|
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
|
|
|
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)
|
rs1057519042
|
|
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)
|
rs1057519044
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1084+3A>G
|
rs879253721
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
NM_000141.5(FGFR2):c.1570A>G (p.Thr524Ala)
|
rs1057520044
|
|
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)
|
rs121918507
|
|
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)
|
rs1057519045
|
|
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.1913A>C (p.Asn638Thr)
|
rs777169135
|
|
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)
|
rs1057519047
|
|
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)
|
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)
|
rs121918498
|
|
NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro)
|
|
|
NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe)
|
rs1850299732
|
|
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu)
|
rs1057519037
|
|
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)
|
rs1057519038
|
|
NM_000141.5:c.940-19_940-18insAlu
|
|
|
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys)
|
rs1721198491
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000474.4(TWIST1):c.171del (p.Gly59fs)
|
rs1788590614
|
|
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)
|
rs1085307555
|
|
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly)
|
rs1554442019
|
|
NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser)
|
rs1554442015
|
|
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly)
|
rs1554442015
|
|
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)
|
rs1233220987
|
|
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg)
|
rs2115396737
|
|
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
|
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)
|
rs1585616948
|
|
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser)
|
rs2115396651
|
|
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu)
|
rs1788580776
|
|
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)
|
rs1554441987
|
|
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)
|
rs1788580077
|
|
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
|
|
|
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)
|
rs104894059
|
|
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu)
|
rs2115396574
|
|
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu)
|
rs2115396572
|
|
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val)
|
rs1563159945
|
|
NM_000474.4(TWIST1):c.476T>A (p.Leu159His)
|
rs1585616825
|
|
NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)
|
rs1555103652
|
|
NM_001006657.2(WDR35):c.1195-2A>T
|
|
|
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
|
|
|
NM_001271938.2(MEGF8):c.1784_1788+3del
|
|
|
NM_001271938.2(MEGF8):c.3351-2A>C
|
rs2039397653
|
|
NM_001271938.2(MEGF8):c.3761+2T>C
|
|
|
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
|
|
|
NM_001271938.2(MEGF8):c.7005+1G>T
|
rs1224632697
|
|
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
|
|
|
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys)
|
rs2039109372
|
|
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del)
|
rs775004286
|
|
NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr)
|
rs1340215600
|
|
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs)
|
rs769407804
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg)
|
rs2116630442
|
|
NM_001448.3(GPC4):c.455del (p.Val152fs)
|
rs2124120705
|
|
NM_001903.5(CTNNA1):c.2572_2586dup (p.Ser858_Lys862dup)
|
rs2150359366
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.103C>G (p.Pro35Ala)
|
|
|
NM_003036.4(SKI):c.104C>A (p.Pro35Gln)
|
rs397514589
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003036.4(SKI):c.106G>C (p.Ala36Pro)
|
rs2100789569
|
|
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
|
rs387907303
|
|
NM_003036.4(SKI):c.350G>A (p.Gly117Asp)
|
rs2100790073
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_003036.4(SKI):c.539C>T (p.Thr180Met)
|
rs863223722
|
|
NM_003036.4(SKI):c.68A>C (p.Gln23Pro)
|
rs1557806222
|
|
NM_003108.4(SOX11):c.191G>A (p.Arg64His)
|
rs2103276364
|
|
NM_003221.4(TFAP2B):c.1144C>T (p.Arg382Ter)
|
rs2113960501
|
|
NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile)
|
rs2113920409
|
|
NM_003221.4(TFAP2B):c.601+2T>A
|
rs2113937986
|
|
NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg)
|
rs2113952620
|
|
NM_003412.4(ZIC1):c.1153G>T (p.Glu385Ter)
|
rs2087399510
|
|
NM_003995.4(NPR2):c.2162_2172del (p.Ser721fs)
|
rs1057518817
|
|
NM_003995.4(NPR2):c.779A>T (p.Glu260Val)
|
rs757744435
|
|
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs)
|
rs1586821679
|
|
NM_004260.4(RECQL4):c.1131+1G>A
|
rs1050860620
|
|
NM_004260.4(RECQL4):c.1131+2_1131+5del
|
|
|
NM_004260.4(RECQL4):c.1132-2A>G
|
|
|
NM_004260.4(RECQL4):c.118+2T>C
|
rs1586834813
|
|
NM_004260.4(RECQL4):c.119-2A>C
|
rs1815370807
|
|
NM_004260.4(RECQL4):c.119-2A>G
|
|
|
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter)
|
rs2130712164
|
|
NM_004260.4(RECQL4):c.1258+1G>A
|
rs2130711906
|
|
NM_004260.4(RECQL4):c.1390+1G>A
|
|
|
NM_004260.4(RECQL4):c.1390+1G>T
|
rs1085307090
|
|
NM_004260.4(RECQL4):c.1483+1G>A
|
rs1827970204
|
|
NM_004260.4(RECQL4):c.1614_1620+14del
|
|
|
NM_004260.4(RECQL4):c.1620+1G>A
|
rs2130702516
|
|
NM_004260.4(RECQL4):c.1621-2A>G
|
|
|
NM_004260.4(RECQL4):c.1704+1G>A
|
rs760363252
|
|
NM_004260.4(RECQL4):c.1704+2T>G
|
|
|
NM_004260.4(RECQL4):c.1705-1G>A
|
rs569948031
|
|
NM_004260.4(RECQL4):c.1705-1G>C
|
rs569948031
|
|
NM_004260.4(RECQL4):c.1705-1del
|
|
|
NM_004260.4(RECQL4):c.1879-1G>A
|
|
|
NM_004260.4(RECQL4):c.2058+2T>G
|
rs2130689994
|
|
NM_004260.4(RECQL4):c.214-2A>G
|
|
|
NM_004260.4(RECQL4):c.2200+1G>A
|
|
|
NM_004260.4(RECQL4):c.2200+1G>T
|
|
|
NM_004260.4(RECQL4):c.2200+2T>C
|
rs768749064
|
|
NM_004260.4(RECQL4):c.2201-1G>A
|
|
|
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)
|
rs766312203
|
|
NM_004260.4(RECQL4):c.2463+2T>C
|
rs2130676059
|
|
NM_004260.4(RECQL4):c.2756-1G>A
|
rs1564791894
|
|
NM_004260.4(RECQL4):c.2866_2885+19del
|
rs1554897134
|
|
NM_004260.4(RECQL4):c.2878_2885+14del
|
|
|
NM_004260.4(RECQL4):c.2885+1G>T
|
rs1176959485
|
|
NM_004260.4(RECQL4):c.2889del (p.Pro965fs)
|
rs1586795973
|
|
NM_004260.4(RECQL4):c.3055+1G>A
|
rs368585080
|
|
NM_004260.4(RECQL4):c.3055+1del
|
rs1586794620
|
|
NM_004260.4(RECQL4):c.3055+2T>C
|
rs2130661643
|
|
NM_004260.4(RECQL4):c.3056-1G>A
|
|
|
NM_004260.4(RECQL4):c.3056-1G>T
|
|
|
NM_004260.4(RECQL4):c.3056-2A>G
|
|
|
NM_004260.4(RECQL4):c.3056-4_3069del
|
|
|
NM_004260.4(RECQL4):c.3236+1G>C
|
|
|
NM_004260.4(RECQL4):c.3236G>T (p.Ser1079Ile)
|
rs2130657545
|
|
NM_004260.4(RECQL4):c.3237-1G>A
|
rs1586791945
|
|
NM_004260.4(RECQL4):c.3237-2A>G
|
|
|
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter)
|
rs868635592
|
|
NM_004260.4(RECQL4):c.3393+1G>A
|
rs1586790519
|
|
NM_004260.4(RECQL4):c.3393+61_3461delinsAG
|
|
|
NM_004260.4(RECQL4):c.3394-1G>A
|
rs752301125
|
|
NM_004260.4(RECQL4):c.355-1G>A
|
|
|
NM_004260.4(RECQL4):c.355-1G>T
|
rs1815108719
|
|
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs)
|
rs1586824938
|
|
NM_004260.4(RECQL4):c.84+1G>A
|
rs1815425378
|
|
NM_004260.4(RECQL4):c.84+2T>G
|
|
|
NM_004260.4(RECQL4):c.85-2A>G
|
rs1227874093
|
|
NM_006494.4(ERF):c.1049del (p.Leu350fs)
|
rs2036390617
|
|
NM_006494.4(ERF):c.110T>C (p.Leu37Pro)
|
rs2036426238
|
|
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs)
|
rs2146948133
|
|
NM_006494.4(ERF):c.286A>T (p.Lys96Ter)
|
rs1599823350
|
|
NM_006494.4(ERF):c.41G>A (p.Trp14Ter)
|
rs2036427390
|
|
NM_006494.4(ERF):c.517_521dup (p.Ala175fs)
|
rs2146950390
|
|
NM_006494.4(ERF):c.891_892del (p.Gly299fs)
|
rs587777007
|
|
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter)
|
rs1216061173
|
|
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
|
|
|
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
|
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter)
|
rs1211232252
|
|
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter)
|
rs1554680902
|
|
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)
|
rs886042000
|
|
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs)
|
rs1554680188
|
|
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter)
|
rs139494583
|
|
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
|
|
|
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs)
|
rs2150856658
|
|
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs)
|
rs1821721248
|
|
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
|
|
|
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
|
|
|
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
|
|
|
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)
|
rs1064794000
|
|
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn)
|
rs1821677301
|
|
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe)
|
rs1821677152
|
|
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
|
|
|
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer)
|
rs1554679726
|
|
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter)
|
rs2150855722
|
|
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs)
|
rs2150855326
|
|
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
|
|
|
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
|
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
|
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
|
NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)
|
rs1057518791
|
|
NM_014255.7(CNPY2):c.46_50del (p.Gly16fs)
|
rs1873865063
|
|
NM_016277.5(RAB23):c.156-1G>C
|
rs373724159
|
|
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
|
|
|
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG
|
rs2127998544
|
|
NM_016277.5(RAB23):c.481+1G>A
|
|
|
NM_016277.5(RAB23):c.482-1_486del
|
rs2127997697
|
|
NM_016277.5(RAB23):c.559del (p.Ser187fs)
|
rs2127997645
|
|
NM_019885.4(CYP26B1):c.86C>A (p.Ser29Ter)
|
|
|
NM_020779.4(WDR35):c.1255+1G>C
|
rs371669862
|
|
NM_020779.4(WDR35):c.1525-2A>T
|
|
|
NM_020779.4(WDR35):c.1846-30_1848del
|
rs1553317813
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg)
|
rs397515536
|
|
NM_020779.4(WDR35):c.570+2T>G
|
|
|
NM_021224.6(ZNF462):c.6631del (p.Arg2211fs)
|
rs1826656424
|
|
NM_023110.3(FGFR1):c.1081+1G>A
|
|
|
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
|
|
|
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)
|
rs121909641
|
|
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly)
|
rs1817052708
|
|
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
|
|
|
NM_023110.3(FGFR1):c.1855-2A>G
|
|
|
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
|
|
|
NM_023110.3(FGFR1):c.2049-1G>A
|
|
|
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)
|
rs1554570813
|
|
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
|
|
|
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)
|
rs1554570706
|
|
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg)
|
rs1260404537
|
|
NM_023110.3(FGFR1):c.448+1G>A
|
rs376416531
|
|
NM_023110.3(FGFR1):c.448+1G>C
|
rs376416531
|
|
NM_023110.3(FGFR1):c.449-6G>A
|
|
|
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
|
|
|
NM_023110.3(FGFR1):c.622-2A>G
|
rs2150866757
|
|
NM_023110.3(FGFR1):c.745+1G>T
|
|
|
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)
|
rs727505369
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)
|
rs775181779
|
|
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)
|
rs1421636172
|
|
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
|
|
|
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)
|
rs1401145684
|
|
NM_025132.4(WDR19):c.961+2T>C
|
rs1728876351
|
|
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)
|
rs2108328020
|
|
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)
|
rs2074912574
|
|
NM_052989.3(IFT122):c.273-281_273-271del
|
rs1559868433
|
|
NM_052989.3(IFT122):c.349+1G>A
|
rs1559869525
|
|
NM_052989.3(IFT122):c.416+2T>G
|
rs2108101855
|
|
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp)
|
rs2077955754
|
|
NM_207037.2(TCF12):c.1036-6G>A
|
|
|
NM_207037.2(TCF12):c.1606del (p.Thr536fs)
|
rs1597730335
|
|
NM_207037.2(TCF12):c.1746-8T>G
|
|
|
NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer)
|
rs1597816045
|
|
NM_207037.2(TCF12):c.1807C>T (p.Arg603Trp)
|
rs1191340189
|
|
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln)
|
rs1349009265
|
|
NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys)
|
rs1414251456
|
|
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
|
|
|
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter)
|
rs747222651
|
|
NM_207037.2(TCF12):c.325+2T>C
|
|
|
NM_207037.2(TCF12):c.655del (p.Ser219fs)
|
|
|
NM_207037.2(TCF12):c.778_779del (p.Met260fs)
|
rs2059175292
|
|
NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)
|
|
|