Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26473462_26473501delinsTCAGGGACGACTGCACCCCCTTCCCTGCACACTCGATGTCCA1239824159OTOFc.3475_3514delinsGACATCGAGTGTGCAGGGAAGGGGGTGCAGTCGTCCCTGA (p.Asp1159=)
c.1234_1273delinsGACATCGAGTGTGCAGGGAAGGGGGTGCAGTCGTCCCTGA (p.Asp412=)
c.1405_1444delinsGACATCGAGTGTGCAGGGAAGGGGGTGCAGTCGTCCCTGA (p.Asp469=)
c.41_80delinsGACATCGAGTGTGCAGGGAAGGGGGTGCAGTCGTCCCTGA
c.3520_3559delinsGACATCGAGTGTGCAGGGAAGGGGGTGCAGTCGTCCCTGA (p.Asp1174=)
2g.26473463C>ACA425203089OTOFc.3513G>T (p.Leu1171=)
c.1272G>T (p.Leu424=)
c.1443G>T (p.Leu481=)
c.79G>T
c.3558G>T (p.Leu1186=)
2g.26473463C=CA1239824161OTOFc.3513G= (p.Leu1171=)
c.1272G= (p.Leu424=)
c.1443G= (p.Leu481=)
c.79G=
c.3558G= (p.Leu1186=)
2g.26473463C>GCA425203090OTOFc.3513G>C (p.Leu1171=)
c.1272G>C (p.Leu424=)
c.1443G>C (p.Leu481=)
c.79G>C
c.3558G>C (p.Leu1186=)
2g.26473463C>TCA425203091OTOFc.3513G>A (p.Leu1171=)
c.1272G>A (p.Leu424=)
c.1443G>A (p.Leu481=)
c.79G>A
c.3558G>A (p.Leu1186=)
 dbSNP gnomAD v3 gnomAD v4
2g.26473465_26473503delCA531761953OTOFc.3475_3513del (p.Asp1159_Leu1171del)
c.1234_1272del (p.Asp412_Leu424del)
c.1405_1443del (p.Asp469_Leu481del)
c.41_79del
c.3520_3558del (p.Asp1174_Leu1186del)
 dbSNP gnomAD v2 gnomAD v4
2g.26473464A>CCA346104795OTOFc.3512T>G (p.Leu1171Arg)
c.1271T>G (p.Leu424Arg)
c.1442T>G (p.Leu481Arg)
c.78T>G
c.3557T>G (p.Leu1186Arg)
2g.26473464A>GCA346104798OTOFc.3512T>C (p.Leu1171Pro)
c.1271T>C (p.Leu424Pro)
c.1442T>C (p.Leu481Pro)
c.78T>C
c.3557T>C (p.Leu1186Pro)
2g.26473464A>TCA346104799OTOFc.3512T>A (p.Leu1171Gln)
c.1271T>A (p.Leu424Gln)
c.1442T>A (p.Leu481Gln)
c.78T>A
c.3557T>A (p.Leu1186Gln)
2g.26473465G>ACA425203092OTOFc.3511C>T (p.Leu1171=)
c.1270C>T (p.Leu424=)
c.1441C>T (p.Leu481=)
c.77C>T
c.3556C>T (p.Leu1186=)
2g.26473465G>CCA346104800OTOFc.3511C>G (p.Leu1171Val)
c.1270C>G (p.Leu424Val)
c.1441C>G (p.Leu481Val)
c.77C>G
c.3556C>G (p.Leu1186Val)
2g.26473465G>TCA346104802OTOFc.3511C>A (p.Leu1171Met)
c.1270C>A (p.Leu424Met)
c.1441C>A (p.Leu481Met)
c.77C>A
c.3556C>A (p.Leu1186Met)
2g.26473466G>ACA425203093OTOFc.3510C>T (p.Ser1170=)
c.1269C>T (p.Ser423=)
c.1440C>T (p.Ser480=)
c.76C>T
c.3555C>T (p.Ser1185=)
 dbSNP
2g.26473466G>CCA425203094OTOFc.3510C>G (p.Ser1170=)
c.1269C>G (p.Ser423=)
c.1440C>G (p.Ser480=)
c.76C>G
c.3555C>G (p.Ser1185=)
2g.26473466G=CA1239824163OTOFc.3510C= (p.Ser1170=)
c.1269C= (p.Ser423=)
c.1440C= (p.Ser480=)
c.76C=
c.3555C= (p.Ser1185=)
2g.26473466G>TCA425203095OTOFc.3510C>A (p.Ser1170=)
c.1269C>A (p.Ser423=)
c.1440C>A (p.Ser480=)
c.76C>A
c.3555C>A (p.Ser1185=)
2g.26473467G>ACA346104807OTOFc.3509C>T (p.Ser1170Phe)
c.1268C>T (p.Ser423Phe)
c.1439C>T (p.Ser480Phe)
c.75C>T
c.3554C>T (p.Ser1185Phe)
2g.26473467G>CCA346104817OTOFc.3509C>G (p.Ser1170Cys)
c.1268C>G (p.Ser423Cys)
c.1439C>G (p.Ser480Cys)
c.75C>G
c.3554C>G (p.Ser1185Cys)
 dbSNP
2g.26473467G=CA1239824164OTOFc.3509C= (p.Ser1170=)
c.1268C= (p.Ser423=)
c.1439C= (p.Ser480=)
c.75C=
c.3554C= (p.Ser1185=)
2g.26473467G>TCA346104809OTOFc.3509C>A (p.Ser1170Tyr)
c.1268C>A (p.Ser423Tyr)
c.1439C>A (p.Ser480Tyr)
c.75C>A
c.3554C>A (p.Ser1185Tyr)
 gnomAD v4
2g.26473468A=CA1239824166OTOFc.3508T= (p.Ser1170=)
c.1267T= (p.Ser423=)
c.1438T= (p.Ser480=)
c.74T=
c.3553T= (p.Ser1185=)
2g.26473468A>CCA346104821OTOFc.3508T>G (p.Ser1170Ala)
c.1267T>G (p.Ser423Ala)
c.1438T>G (p.Ser480Ala)
c.74T>G
c.3553T>G (p.Ser1185Ala)
2g.26473468A>GCA346104822OTOFc.3508T>C (p.Ser1170Pro)
c.1267T>C (p.Ser423Pro)
c.1438T>C (p.Ser480Pro)
c.74T>C
c.3553T>C (p.Ser1185Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.26473468A>TCA346104824OTOFc.3508T>A (p.Ser1170Thr)
c.1267T>A (p.Ser423Thr)
c.1438T>A (p.Ser480Thr)
c.74T>A
c.3553T>A (p.Ser1185Thr)
2g.26473469C>ACA425203096OTOFc.3507G>T (p.Ser1169=)
c.1266G>T (p.Ser422=)
c.1437G>T (p.Ser479=)
c.73G>T
c.3552G>T (p.Ser1184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26473469C=CA1239824168OTOFc.3507G= (p.Ser1169=)
c.1266G= (p.Ser422=)
c.1437G= (p.Ser479=)
c.73G=
c.3552G= (p.Ser1184=)
2g.26473469C>GCA425203097OTOFc.3507G>C (p.Ser1169=)
c.1266G>C (p.Ser422=)
c.1437G>C (p.Ser479=)
c.73G>C
c.3552G>C (p.Ser1184=)
2g.26473469C>TCA142854OTOFc.3507G>A (p.Ser1169=)
c.1266G>A (p.Ser422=)
c.1437G>A (p.Ser479=)
c.73G>A
c.3552G>A (p.Ser1184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26473470G>ACA1563535OTOFc.3506C>T (p.Ser1169Leu)
c.1265C>T (p.Ser422Leu)
c.1436C>T (p.Ser479Leu)
c.72C>T
c.3551C>T (p.Ser1184Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26473470G>CCA346104836OTOFc.3506C>G (p.Ser1169Trp)
c.1265C>G (p.Ser422Trp)
c.1436C>G (p.Ser479Trp)
c.72C>G
c.3551C>G (p.Ser1184Trp)
 gnomAD v4
2g.26473470G=CA1239824170OTOFc.3506C= (p.Ser1169=)
c.1265C= (p.Ser422=)
c.1436C= (p.Ser479=)
c.72C=
c.3551C= (p.Ser1184=)
2g.26473470G>TCA346104832OTOFc.3506C>A (p.Ser1169Ter)
c.1265C>A (p.Ser422Ter)
c.1436C>A (p.Ser479Ter)
c.72C>A
c.3551C>A (p.Ser1184Ter)
 gnomAD v4
2g.26473471delCA425203098OTOFc.3505del (p.Ser1169ArgfsTer3)
c.1264del (p.Ser422ArgfsTer3)
c.1435del (p.Ser479ArgfsTer3)
c.71del
c.3550del (p.Ser1184ArgfsTer3)
 COSMIC COSMIC
2g.26473471A>CCA346104837OTOFc.3505T>G (p.Ser1169Ala)
c.1264T>G (p.Ser422Ala)
c.1435T>G (p.Ser479Ala)
c.71T>G
c.3550T>G (p.Ser1184Ala)
2g.26473471A>GCA346104838OTOFc.3505T>C (p.Ser1169Pro)
c.1264T>C (p.Ser422Pro)
c.1435T>C (p.Ser479Pro)
c.71T>C
c.3550T>C (p.Ser1184Pro)
2g.26473471A>TCA346104840OTOFc.3505T>A (p.Ser1169Thr)
c.1264T>A (p.Ser422Thr)
c.1435T>A (p.Ser479Thr)
c.71T>A
c.3550T>A (p.Ser1184Thr)
 gnomAD v4
2g.26473472C>ACA346104842OTOFc.3504G>T (p.Gln1168His)
c.1263G>T (p.Gln421His)
c.1434G>T (p.Gln478His)
c.70G>T
c.3549G>T (p.Gln1183His)
2g.26473472C>GCA346104843OTOFc.3504G>C (p.Gln1168His)
c.1263G>C (p.Gln421His)
c.1434G>C (p.Gln478His)
c.70G>C
c.3549G>C (p.Gln1183His)
2g.26473472C>TCA425203099OTOFc.3504G>A (p.Gln1168=)
c.1263G>A (p.Gln421=)
c.1434G>A (p.Gln478=)
c.70G>A
c.3549G>A (p.Gln1183=)
2g.26473473T>ACA346104847OTOFc.3503A>T (p.Gln1168Leu)
c.1262A>T (p.Gln421Leu)
c.1433A>T (p.Gln478Leu)
c.69A>T
c.3548A>T (p.Gln1183Leu)
2g.26473473T>CCA346104849OTOFc.3503A>G (p.Gln1168Arg)
c.1262A>G (p.Gln421Arg)
c.1433A>G (p.Gln478Arg)
c.69A>G
c.3548A>G (p.Gln1183Arg)
2g.26473473T>GCA346104854OTOFc.3503A>C (p.Gln1168Pro)
c.1262A>C (p.Gln421Pro)
c.1433A>C (p.Gln478Pro)
c.69A>C
c.3548A>C (p.Gln1183Pro)
2g.26473473_26473474insCATCA645517899OTOFc.3503_3504insTGA (p.Gln1168delinsHisGlu)
c.1262_1263insTGA (p.Gln421delinsHisGlu)
c.1433_1434insTGA (p.Gln478delinsHisGlu)
c.69_70insTGA
c.3548_3549insTGA (p.Gln1183delinsHisGlu)
 COSMIC COSMIC
2g.26473474G>ACA346104860OTOFc.3502C>T (p.Gln1168Ter)
c.1261C>T (p.Gln421Ter)
c.1432C>T (p.Gln478Ter)
c.68C>T
c.3547C>T (p.Gln1183Ter)
2g.26473474G>CCA346104862OTOFc.3502C>G (p.Gln1168Glu)
c.1261C>G (p.Gln421Glu)
c.1432C>G (p.Gln478Glu)
c.68C>G
c.3547C>G (p.Gln1183Glu)
2g.26473474G>TCA346104865OTOFc.3502C>A (p.Gln1168Lys)
c.1261C>A (p.Gln421Lys)
c.1432C>A (p.Gln478Lys)
c.68C>A
c.3547C>A (p.Gln1183Lys)
2g.26473475C>ACA425203100OTOFc.3501G>T (p.Val1167=)
c.1260G>T (p.Val420=)
c.1431G>T (p.Val477=)
c.67G>T
c.3546G>T (p.Val1182=)
2g.26473475C=CA1239824172OTOFc.3501G= (p.Val1167=)
c.1260G= (p.Val420=)
c.1431G= (p.Val477=)
c.67G=
c.3546G= (p.Val1182=)
2g.26473475C>GCA425203101OTOFc.3501G>C (p.Val1167=)
c.1260G>C (p.Val420=)
c.1431G>C (p.Val477=)
c.67G>C
c.3546G>C (p.Val1182=)
2g.26473475C>TCA1563536OTOFc.3501G>A (p.Val1167=)
c.1260G>A (p.Val420=)
c.1431G>A (p.Val477=)
c.67G>A
c.3546G>A (p.Val1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched