NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)
|
rs116938457
|
0.00053
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)
|
rs201120508
|
0.00020
|
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
|
rs200669099
|
0.00006
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)
|
rs794727103
|
0.00003
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
NM_012144.4(DNAI1):c.912C>G (p.Tyr304Ter)
|
rs878854968
|
0.00003
|
NM_012144.4(DNAI1):c.1019+5G>C
|
rs747121305
|
0.00001
|
NM_012144.4(DNAI1):c.1352T>A (p.Phe451Tyr)
|
rs148810969
|
0.00001
|
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)
|
rs751920647
|
0.00001
|
NM_012144.4(DNAI1):c.1569+1G>T
|
rs1465404366
|
0.00001
|
NM_012144.4(DNAI1):c.465_466del (p.Glu156fs)
|
rs1392661120
|
0.00001
|
NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter)
|
rs749302505
|
0.00001
|
NM_012144.4(DNAI1):c.598C>T (p.Gln200Ter)
|
rs763505357
|
0.00001
|
NM_012144.4(DNAI1):c.859G>T (p.Glu287Ter)
|
rs1290572246
|
0.00001
|
NC_000009.11:g.(?_34483426)_(34520754_?)del
|
|
|
NC_000009.11:g.(?_34489301)_(34491572_?)del
|
|
|
NC_000009.11:g.(?_34489311)_(34489457_?)del
|
|
|
NC_000009.11:g.(?_34513100)_(34514747_?)del
|
|
|
NM_012144.4(DNAI1):c.-1_4del (p.Met1fs)
|
|
|
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
|
|
|
NM_012144.4(DNAI1):c.1063+1G>A
|
rs1268770869
|
|
NM_012144.4(DNAI1):c.1063+1G>T
|
rs1268770869
|
|
NM_012144.4(DNAI1):c.1063+2T>C
|
|
|
NM_012144.4(DNAI1):c.1073_1076del (p.Met358fs)
|
|
|
NM_012144.4(DNAI1):c.1092dup (p.Leu365fs)
|
|
|
NM_012144.4(DNAI1):c.1127del (p.Pro376fs)
|
rs2132076740
|
|
NM_012144.4(DNAI1):c.1134C>G (p.Tyr378Ter)
|
|
|
NM_012144.4(DNAI1):c.1188del (p.Tyr397fs)
|
rs1060503515
|
|
NM_012144.4(DNAI1):c.1191_1193del (p.Tyr397_Leu398delinsTer)
|
rs2132076876
|
|
NM_012144.4(DNAI1):c.1202dup (p.Gly402fs)
|
rs2132076893
|
|
NM_012144.4(DNAI1):c.1239del (p.Lys414fs)
|
|
|
NM_012144.4(DNAI1):c.1289_1310dup (p.Val438fs)
|
|
|
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)
|
rs769284314
|
|
NM_012144.4(DNAI1):c.1319G>A (p.Trp440Ter)
|
|
|
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs)
|
rs867262419
|
|
NM_012144.4(DNAI1):c.1358_1359del (p.Ser453fs)
|
rs2132081341
|
|
NM_012144.4(DNAI1):c.1383_1384del (p.Ser462fs)
|
rs1370523337
|
|
NM_012144.4(DNAI1):c.139del (p.Ala47fs)
|
|
|
NM_012144.4(DNAI1):c.1463del (p.Pro488fs)
|
rs2132081705
|
|
NM_012144.4(DNAI1):c.146_149del (p.Val49fs)
|
rs2132057373
|
|
NM_012144.4(DNAI1):c.1490G>T (p.Gly497Val)
|
rs376252276
|
|
NM_012144.4(DNAI1):c.1498_1502del (p.Thr500fs)
|
|
|
NM_012144.4(DNAI1):c.1499dup (p.Ala501fs)
|
rs1825102855
|
|
NM_012144.4(DNAI1):c.1569+1G>A
|
rs1465404366
|
|
NM_012144.4(DNAI1):c.156del (p.Asp53fs)
|
rs1060503495
|
|
NM_012144.4(DNAI1):c.1591C>T (p.Gln531Ter)
|
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_012144.4(DNAI1):c.1638_1639del (p.Ser547fs)
|
|
|
NM_012144.4(DNAI1):c.163del (p.Leu55fs)
|
rs1196979432
|
|
NM_012144.4(DNAI1):c.1643G>A (p.Trp548Ter)
|
|
|
NM_012144.4(DNAI1):c.1644del (p.Ser547_Trp548insTer)
|
|
|
NM_012144.4(DNAI1):c.1653C>G (p.Tyr551Ter)
|
|
|
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr)
|
rs1335386227
|
|
NM_012144.4(DNAI1):c.1677C>A (p.Cys559Ter)
|
|
|
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
|
|
|
NM_012144.4(DNAI1):c.1720_1725delinsTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACACA (p.Thr574_Pro575delinsTer)
|
|
|
NM_012144.4(DNAI1):c.178dup (p.Ala60fs)
|
rs2132057423
|
|
NM_012144.4(DNAI1):c.1871del (p.Pro624fs)
|
rs1168493593
|
|
NM_012144.4(DNAI1):c.1887del (p.Asn630fs)
|
rs2132086495
|
|
NM_012144.4(DNAI1):c.1900dup (p.His634fs)
|
rs1825189052
|
|
NM_012144.4(DNAI1):c.193G>T (p.Glu65Ter)
|
|
|
NM_012144.4(DNAI1):c.1941_1942insCA (p.Asp648fs)
|
|
|
NM_012144.4(DNAI1):c.1A>G (p.Met1Val)
|
|
|
NM_012144.4(DNAI1):c.2001+1G>T
|
|
|
NM_012144.4(DNAI1):c.264del (p.Gly89fs)
|
rs2132060982
|
|
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)
|
|
|
NM_012144.4(DNAI1):c.336del (p.Asp114fs)
|
rs876657683
|
|
NM_012144.4(DNAI1):c.380T>A (p.Leu127Ter)
|
|
|
NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)
|
|
|
NM_012144.4(DNAI1):c.402_403insAT (p.Val135fs)
|
|
|
NM_012144.4(DNAI1):c.43A>T (p.Lys15Ter)
|
|
|
NM_012144.4(DNAI1):c.458T>A (p.Leu153Ter)
|
rs2132061817
|
|
NM_012144.4(DNAI1):c.484_485del (p.Asp162fs)
|
|
|
NM_012144.4(DNAI1):c.488_489dup (p.Pro164fs)
|
|
|
NM_012144.4(DNAI1):c.544C>T (p.Gln182Ter)
|
rs1824564325
|
|
NM_012144.4(DNAI1):c.556dup (p.Arg186fs)
|
rs1824564676
|
|
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer)
|
rs1405276816
|
|
NM_012144.4(DNAI1):c.622-2A>G
|
|
|
NM_012144.4(DNAI1):c.625C>T (p.Arg209Ter)
|
rs769224534
|
|
NM_012144.4(DNAI1):c.634C>T (p.Gln212Ter)
|
|
|
NM_012144.4(DNAI1):c.663_664del (p.Ala223fs)
|
rs2132063305
|
|
NM_012144.4(DNAI1):c.683G>A (p.Trp228Ter)
|
|
|
NM_012144.4(DNAI1):c.688_689del (p.Ile230fs)
|
rs2132065290
|
|
NM_012144.4(DNAI1):c.718A>T (p.Lys240Ter)
|
|
|
NM_012144.4(DNAI1):c.864del (p.Met289fs)
|
|
|
NM_012144.4(DNAI1):c.885_886dup (p.Asp296fs)
|
|
|
NM_012144.4(DNAI1):c.92C>G (p.Ser31Ter)
|
|
|
NM_012144.4(DNAI1):c.944_947dup (p.Thr318fs)
|
|
|
NM_012144.4(DNAI1):c.947dup (p.Thr318fs)
|
|
|