Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26475965_26475987delinsGAGTCCGCTGCTGTCGGCGGCAACA1239827727OTOFc.2918_2940delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe973=)
c.677_699delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe226=)
c.848_870delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe283=)
c.2963_2985delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe988=)
2g.26475968_26475989delCA531761809OTOFc.2918_2939del (p.Phe973SerfsTer20)
c.677_698del (p.Phe226SerfsTer20)
c.848_869del (p.Phe283SerfsTer20)
c.2963_2984del (p.Phe988SerfsTer20)
 dbSNP gnomAD v2 gnomAD v4
2g.26475976_26475982delCA2658237139OTOFc.2925_2931del (p.Asp976AlafsTer22)
c.684_690del (p.Asp229AlafsTer22)
c.855_861del (p.Asp286AlafsTer22)
c.2970_2976del (p.Asp991AlafsTer22)
 gnomAD v4
2g.26475976T>ACA346113032OTOFc.2929A>T (p.Ser977Cys)
c.688A>T (p.Ser230Cys)
c.859A>T (p.Ser287Cys)
c.2974A>T (p.Ser992Cys)
2g.26475976T>CCA346113035OTOFc.2929A>G (p.Ser977Gly)
c.688A>G (p.Ser230Gly)
c.859A>G (p.Ser287Gly)
c.2974A>G (p.Ser992Gly)
2g.26475976T>GCA346113040OTOFc.2929A>C (p.Ser977Arg)
c.688A>C (p.Ser230Arg)
c.859A>C (p.Ser287Arg)
c.2974A>C (p.Ser992Arg)
2g.26475977G>ACA1563722OTOFc.2928C>T (p.Asp976=)
c.687C>T (p.Asp229=)
c.858C>T (p.Asp286=)
c.2973C>T (p.Asp991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475977G>CCA346113046OTOFc.2928C>G (p.Asp976Glu)
c.687C>G (p.Asp229Glu)
c.858C>G (p.Asp286Glu)
c.2973C>G (p.Asp991Glu)
2g.26475977G=CA1239827744OTOFc.2928C= (p.Asp976=)
c.687C= (p.Asp229=)
c.858C= (p.Asp286=)
c.2973C= (p.Asp991=)
2g.26475977G>TCA346113059OTOFc.2928C>A (p.Asp976Glu)
c.687C>A (p.Asp229Glu)
c.858C>A (p.Asp286Glu)
c.2973C>A (p.Asp991Glu)
 dbSNP
2g.26475978T>ACA346113066OTOFc.2927A>T (p.Asp976Val)
c.686A>T (p.Asp229Val)
c.857A>T (p.Asp286Val)
c.2972A>T (p.Asp991Val)
2g.26475978T>CCA346113073OTOFc.2927A>G (p.Asp976Gly)
c.686A>G (p.Asp229Gly)
c.857A>G (p.Asp286Gly)
c.2972A>G (p.Asp991Gly)
2g.26475978T>GCA346113089OTOFc.2927A>C (p.Asp976Ala)
c.686A>C (p.Asp229Ala)
c.857A>C (p.Asp286Ala)
c.2972A>C (p.Asp991Ala)
2g.26475979C>ACA346113106OTOFc.2926G>T (p.Asp976Tyr)
c.685G>T (p.Asp229Tyr)
c.856G>T (p.Asp286Tyr)
c.2971G>T (p.Asp991Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475979C=CA1239827747OTOFc.2926G= (p.Asp976=)
c.685G= (p.Asp229=)
c.856G= (p.Asp286=)
c.2971G= (p.Asp991=)
2g.26475979C>GCA346113105OTOFc.2926G>C (p.Asp976His)
c.685G>C (p.Asp229His)
c.856G>C (p.Asp286His)
c.2971G>C (p.Asp991His)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.26475979C>TCA1563723OTOFc.2926G>A (p.Asp976Asn)
c.685G>A (p.Asp229Asn)
c.856G>A (p.Asp286Asn)
c.2971G>A (p.Asp991Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475980G>ACA1563724OTOFc.2925C>T (p.Ala975=)
c.684C>T (p.Ala228=)
c.855C>T (p.Ala285=)
c.2970C>T (p.Ala990=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26475980G>CCA425359979OTOFc.2925C>G (p.Ala975=)
c.684C>G (p.Ala228=)
c.855C>G (p.Ala285=)
c.2970C>G (p.Ala990=)
2g.26475980G=CA1239827749OTOFc.2925C= (p.Ala975=)
c.684C= (p.Ala228=)
c.855C= (p.Ala285=)
c.2970C= (p.Ala990=)
2g.26475980G>TCA425359982OTOFc.2925C>A (p.Ala975=)
c.684C>A (p.Ala228=)
c.855C>A (p.Ala285=)
c.2970C>A (p.Ala990=)
 gnomAD v4
2g.26475981G>ACA44397837OTOFc.2924C>T (p.Ala975Val)
c.683C>T (p.Ala228Val)
c.854C>T (p.Ala285Val)
c.2969C>T (p.Ala990Val)
 ClinVar dbSNP gnomAD v4
2g.26475981G>CCA346113124OTOFc.2924C>G (p.Ala975Gly)
c.683C>G (p.Ala228Gly)
c.854C>G (p.Ala285Gly)
c.2969C>G (p.Ala990Gly)
2g.26475981G=CA1239827752OTOFc.2924C= (p.Ala975=)
c.683C= (p.Ala228=)
c.854C= (p.Ala285=)
c.2969C= (p.Ala990=)
2g.26475981G>TCA346113126OTOFc.2924C>A (p.Ala975Asp)
c.683C>A (p.Ala228Asp)
c.854C>A (p.Ala285Asp)
c.2969C>A (p.Ala990Asp)
2g.26475981_26476000delinsGCGGCAAAGAGGCTGCGGGCCA1239827751OTOFc.2905_2924delinsGCCCGCAGCCTCTTTGCCGC (p.Ala969=)
c.664_683delinsGCCCGCAGCCTCTTTGCCGC (p.Ala222=)
c.835_854delinsGCCCGCAGCCTCTTTGCCGC (p.Ala279=)
c.2950_2969delinsGCCCGCAGCCTCTTTGCCGC (p.Ala984=)
2g.26475982C>ACA346113129OTOFc.2923G>T (p.Ala975Ser)
c.682G>T (p.Ala228Ser)
c.853G>T (p.Ala285Ser)
c.2968G>T (p.Ala990Ser)
2g.26475982C=CA1239827754OTOFc.2923G= (p.Ala975=)
c.682G= (p.Ala228=)
c.853G= (p.Ala285=)
c.2968G= (p.Ala990=)
2g.26475982C>GCA346113136OTOFc.2923G>C (p.Ala975Pro)
c.682G>C (p.Ala228Pro)
c.853G>C (p.Ala285Pro)
c.2968G>C (p.Ala990Pro)
2g.26475982C>TCA1563725OTOFc.2923G>A (p.Ala975Thr)
c.682G>A (p.Ala228Thr)
c.853G>A (p.Ala285Thr)
c.2968G>A (p.Ala990Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475982_26476000delinsTGCGCTCGGAGCA345111OTOFc.2905_2923delinsCTCCGAGCGCA (p.Ala969LeufsTer30)
c.664_682delinsCTCCGAGCGCA (p.Ala222LeufsTer30)
c.835_853delinsCTCCGAGCGCA (p.Ala279LeufsTer30)
c.2950_2968delinsCTCCGAGCGCA (p.Ala984LeufsTer30)
 ClinVar dbSNP
2g.26475983G>ACA44397841OTOFc.2922C>T (p.Ala974=)
c.681C>T (p.Ala227=)
c.852C>T (p.Ala284=)
c.2967C>T (p.Ala989=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26475983G>CCA425359987OTOFc.2922C>G (p.Ala974=)
c.681C>G (p.Ala227=)
c.852C>G (p.Ala284=)
c.2967C>G (p.Ala989=)
 ClinVar dbSNP gnomAD v4
2g.26475983G=CA1239827758OTOFc.2922C= (p.Ala974=)
c.681C= (p.Ala227=)
c.852C= (p.Ala284=)
c.2967C= (p.Ala989=)
2g.26475983G>TCA1563726OTOFc.2922C>A (p.Ala974=)
c.681C>A (p.Ala227=)
c.852C>A (p.Ala284=)
c.2967C>A (p.Ala989=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475984delCA2576699412OTOFc.2922del (p.Ala975ProfsTer25)
c.681del (p.Ala228ProfsTer25)
c.852del (p.Ala285ProfsTer25)
c.2967del (p.Ala990ProfsTer25)
 gnomAD v4
2g.26475984G>ACA346113165OTOFc.2921C>T (p.Ala974Val)
c.680C>T (p.Ala227Val)
c.851C>T (p.Ala284Val)
c.2966C>T (p.Ala989Val)
 dbSNP gnomAD v2 gnomAD v4
2g.26475984G>CCA346113169OTOFc.2921C>G (p.Ala974Gly)
c.680C>G (p.Ala227Gly)
c.851C>G (p.Ala284Gly)
c.2966C>G (p.Ala989Gly)
2g.26475984G=CA1239827760OTOFc.2921C= (p.Ala974=)
c.680C= (p.Ala227=)
c.851C= (p.Ala284=)
c.2966C= (p.Ala989=)
2g.26475984G>TCA346113170OTOFc.2921C>A (p.Ala974Asp)
c.680C>A (p.Ala227Asp)
c.851C>A (p.Ala284Asp)
c.2966C>A (p.Ala989Asp)
2g.26475985C>ACA346113173OTOFc.2920G>T (p.Ala974Ser)
c.679G>T (p.Ala227Ser)
c.850G>T (p.Ala284Ser)
c.2965G>T (p.Ala989Ser)
2g.26475985C>GCA346113183OTOFc.2920G>C (p.Ala974Pro)
c.679G>C (p.Ala227Pro)
c.850G>C (p.Ala284Pro)
c.2965G>C (p.Ala989Pro)
2g.26475985C>TCA346113184OTOFc.2920G>A (p.Ala974Thr)
c.679G>A (p.Ala227Thr)
c.850G>A (p.Ala284Thr)
c.2965G>A (p.Ala989Thr)
2g.26475985_26475987delinsCAACA1239827762OTOFc.2918_2920delinsTTG (p.Phe973=)
c.677_679delinsTTG (p.Phe226=)
c.848_850delinsTTG (p.Phe283=)
c.2963_2965delinsTTG (p.Phe988=)
2g.26475986A=CA1239827764OTOFc.2919T= (p.Phe973=)
c.678T= (p.Phe226=)
c.849T= (p.Phe283=)
c.2964T= (p.Phe988=)
2g.26475986A>CCA346113185OTOFc.2919T>G (p.Phe973Leu)
c.678T>G (p.Phe226Leu)
c.849T>G (p.Phe283Leu)
c.2964T>G (p.Phe988Leu)
2g.26475986A>GCA44397842OTOFc.2919T>C (p.Phe973=)
c.678T>C (p.Phe226=)
c.849T>C (p.Phe283=)
c.2964T>C (p.Phe988=)
 dbSNP gnomAD v3 gnomAD v4
2g.26475986A>TCA346113186OTOFc.2919T>A (p.Phe973Leu)
c.678T>A (p.Phe226Leu)
c.849T>A (p.Phe283Leu)
c.2964T>A (p.Phe988Leu)
2g.26475988dupCA2586968812OTOFc.2919dup (p.Ala974CysfsTer28)
c.678dup (p.Ala227CysfsTer28)
c.849dup (p.Ala284CysfsTer28)
c.2964dup (p.Ala989CysfsTer28)
2g.26475987_26475988delCA346113188OTOFc.2918_2919del (p.Phe973CysfsTer28)
c.677_678del (p.Phe226CysfsTer28)
c.848_849del (p.Phe283CysfsTer28)
c.2963_2964del (p.Phe988CysfsTer28)
 dbSNP

Number of alleles fetched