Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.17065438T>CCA1893442203CUBNc.3139+70A>G (n.3139+70A>G)
dbSNP gnomAD v4
10g.17065438T>GCA592163179CUBNc.3139+70A>C (n.3139+70A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17065438T=CA1893442202CUBNc.3139+70A= (n.3139+70A=)
10g.17065439G>ACA2574521633CUBNc.3139+69C>T (n.3139+69C>T)
10g.17065439G>TCA2608400632CUBNc.3139+69C>A (n.3139+69C>A)
gnomAD v4
10g.17065441G>ACA1893442205CUBNc.3139+67C>T (n.3139+67C>T)
dbSNP
10g.17065441G=CA1893442204CUBNc.3139+67C= (n.3139+67C=)
10g.17065443_17065445delCA2608400633CUBNc.3139+64_3139+66del (n.3139+64_3139+66del)
gnomAD v4
10g.17065444T>CCA2608400634CUBNc.3139+64A>G (n.3139+64A>G)
gnomAD v4
10g.17065445T>CCA2786797706CUBNc.3139+63A>G (n.3139+63A>G)
10g.17065446A=CA1893442206CUBNc.3139+62T= (n.3139+62T=)
10g.17065446A>CCA1893442207CUBNc.3139+62T>G (n.3139+62T>G)
dbSNP
10g.17065447G>TCA2608400635CUBNc.3139+61C>A (n.3139+61C>A)
gnomAD v4
10g.17065448C>GCA2608400637CUBNc.3139+60G>C (n.3139+60G>C)
gnomAD v4
10g.17065448C>TCA2608400636CUBNc.3139+60G>A (n.3139+60G>A)
gnomAD v4
10g.17065450A=CA1893442208CUBNc.3139+58T= (n.3139+58T=)
10g.17065450A>GCA203630481CUBNc.3139+58T>C (n.3139+58T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17065452T>ACA2608400638CUBNc.3139+56A>T (n.3139+56A>T)
gnomAD v4
10g.17065454G>ACA203630486CUBNc.3139+54C>T (n.3139+54C>T)
dbSNP
10g.17065454G=CA1893442209CUBNc.3139+54C= (n.3139+54C=)
10g.17065454G>TCA2608400639CUBNc.3139+54C>A (n.3139+54C>A)
gnomAD v4
10g.17065455C>TCA2574521634CUBNc.3139+53G>A (n.3139+53G>A)
10g.17065459G>ACA5424744CUBNc.3139+49C>T (n.3139+49C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17065459G=CA1893442210CUBNc.3139+49C= (n.3139+49C=)
10g.17065461T>CCA2786797707CUBNc.3139+47A>G (n.3139+47A>G)
10g.17065463T>CCA203630497CUBNc.3139+45A>G (n.3139+45A>G)
dbSNP gnomAD v4
10g.17065463T=CA1893442211CUBNc.3139+45A= (n.3139+45A=)
10g.17065464G>ACA2608400640CUBNc.3139+44C>T (n.3139+44C>T)
gnomAD v4
10g.17065465C>ACA2608400641CUBNc.3139+43G>T (n.3139+43G>T)
gnomAD v4
10g.17065465C=CA1893442212CUBNc.3139+43G= (n.3139+43G=)
10g.17065465C>TCA5424745CUBNc.3139+43G>A (n.3139+43G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065467A>GCA2608400642CUBNc.3139+41T>C (n.3139+41T>C)
gnomAD v4
10g.17065468T>ACA2608400643CUBNc.3139+40A>T (n.3139+40A>T)
gnomAD v4
10g.17065468T>CCA592163182CUBNc.3139+40A>G (n.3139+40A>G)
dbSNP gnomAD v2 gnomAD v4
10g.17065468T=CA1893442214CUBNc.3139+40A= (n.3139+40A=)
10g.17065468_17065470delinsTGGCA1893442213CUBNc.3139+38_3139+40delinsCCA (n.3139+38_3139+40delinsCCA)
10g.17065469G>ACA2608400644CUBNc.3139+39C>T (n.3139+39C>T)
gnomAD v4
10g.17065469_17065470delCA5424746CUBNc.3139+38_3139+39del (n.3139+38_3139+39del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065469_17065487delinsGGAGTCAATAAAACCGAGTCA1893442215CUBNc.3139+21_3139+39delinsACTCGGTTTTATTGACTCC (n.3139+21_3139+39delinsACTCGGTTTTATTGACTCC)
10g.17065470G>CCA5424747CUBNc.3139+38C>G (n.3139+38C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065470G=CA1893442217CUBNc.3139+38C= (n.3139+38C=)
10g.17065470_17065487delCA1893442216CUBNc.3139+21_3139+38del (n.3139+21_3139+38del)
dbSNP
10g.17065471A>GCA2786797708CUBNc.3139+37T>C (n.3139+37T>C)
10g.17065472G>ACA592163184CUBNc.3139+36C>T (n.3139+36C>T)
dbSNP gnomAD v2 gnomAD v4
10g.17065472G>CCA5424748CUBNc.3139+36C>G (n.3139+36C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065472G=CA1893442218CUBNc.3139+36C= (n.3139+36C=)
10g.17065472G>TCA2608400645CUBNc.3139+36C>A (n.3139+36C>A)
gnomAD v4
10g.17065473T>CCA2608400646CUBNc.3139+35A>G (n.3139+35A>G)
gnomAD v4
10g.17065474C>ACA662376672CUBNc.3139+34G>T (n.3139+34G>T)
dbSNP gnomAD v3 gnomAD v4
10g.17065474C=CA1893442219CUBNc.3139+34G= (n.3139+34G=)
10g.17065475A>GCA2608400647CUBNc.3139+33T>C (n.3139+33T>C)
gnomAD v4
10g.17065476A=CA1893442220CUBNc.3139+32T= (n.3139+32T=)
10g.17065476A>GCA662376676CUBNc.3139+32T>C (n.3139+32T>C)
dbSNP gnomAD v4
10g.17065477T>CCA2608400648CUBNc.3139+31A>G (n.3139+31A>G)
gnomAD v4
10g.17065479A=CA1893442221CUBNc.3139+29T= (n.3139+29T=)
10g.17065479A>GCA5424749CUBNc.3139+29T>C (n.3139+29T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17065482C>ACA2608400649CUBNc.3139+26G>T (n.3139+26G>T)
gnomAD v4
10g.17065483C=CA1893442222CUBNc.3139+25G= (n.3139+25G=)
10g.17065483C>TCA925387537CUBNc.3139+25G>A (n.3139+25G>A)
dbSNP gnomAD v3 gnomAD v4
10g.17065484G>ACA5424750CUBNc.3139+24C>T (n.3139+24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065484G=CA1893442223CUBNc.3139+24C= (n.3139+24C=)
10g.17065484G>TCA2527792174CUBNc.3139+24C>A (n.3139+24C>A)
gnomAD v4
10g.17065485A=CA1893442224CUBNc.3139+23T= (n.3139+23T=)
10g.17065485A>TCA5424751CUBNc.3139+23T>A (n.3139+23T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17065486G>ACA2608400650CUBNc.3139+22C>T (n.3139+22C>T)
gnomAD v4
10g.17065487T>ACA5424752CUBNc.3139+21A>T (n.3139+21A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065487T>CCA2608400651CUBNc.3139+21A>G (n.3139+21A>G)
gnomAD v4
10g.17065487T=CA1893442225CUBNc.3139+21A= (n.3139+21A=)
10g.17065489T>CCA5424753CUBNc.3139+19A>G (n.3139+19A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065489T=CA1893442226CUBNc.3139+19A= (n.3139+19A=)
10g.17065491C>TCA2608400652CUBNc.3139+17G>A (n.3139+17G>A)
gnomAD v4
10g.17065492A=CA1893442227CUBNc.3139+16T= (n.3139+16T=)
10g.17065492A>CCA2608400653CUBNc.3139+16T>G (n.3139+16T>G)
gnomAD v4
10g.17065492A>GCA203630544CUBNc.3139+16T>C (n.3139+16T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17065493A=CA1893442228CUBNc.3139+15T= (n.3139+15T=)
10g.17065493A>GCA5424754CUBNc.3139+15T>C (n.3139+15T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.17065494T>ACA2608400654CUBNc.3139+14A>T (n.3139+14A>T)
gnomAD v4
10g.17065494T>CCA592163193CUBNc.3139+14A>G (n.3139+14A>G)
dbSNP gnomAD v2 gnomAD v4
10g.17065494T=CA1893442229CUBNc.3139+14A= (n.3139+14A=)
10g.17065498G=CA1893442230CUBNc.3139+10C= (n.3139+10C=)
10g.17065499T>CCA2608400655CUBNc.3139+9A>G (n.3139+9A>G)
gnomAD v4
10g.17065502dupCA592163194CUBNc.3139+9dup (n.3139+9dup)
dbSNP gnomAD v2 gnomAD v4
10g.17065501T>CCA2574521635CUBNc.3139+7A>G (n.3139+7A>G)
10g.17065501T>GCA2608400656CUBNc.3139+7A>C (n.3139+7A>C)
gnomAD v4
10g.17065503G>CCA5424755CUBNc.3139+5C>G (n.3139+5C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17065503G=CA1893442231CUBNc.3139+5C= (n.3139+5C=)
10g.17065503G>TCA203630562CUBNc.3139+5C>A (n.3139+5C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17065504T>CCA5424756CUBNc.3139+4A>G (n.3139+4A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065504T=CA1893442232CUBNc.3139+4A= (n.3139+4A=)
10g.17065505T>CCA5424757CUBNc.3139+3A>G (n.3139+3A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17065505T=CA1893442233CUBNc.3139+3A= (n.3139+3A=)
10g.17065506A>CCA376154094CUBNc.3139+2T>G (n.3139+2T>G)
10g.17065506A>GCA376154096CUBNc.3139+2T>C (n.3139+2T>C)
10g.17065506A>TCA376154097CUBNc.3139+2T>A (n.3139+2T>A)
10g.17065507C>ACA376154099CUBNc.3139+1G>T (n.3139+1G>T)
10g.17065507C>GCA376154101CUBNc.3139+1G>C (n.3139+1G>C)
10g.17065507C>TCA376154102CUBNc.3139+1G>A (n.3139+1G>A)
10g.17065508C>ACA376154108CUBNc.3139G>T (p.Ala1047Ser)
10g.17065508C>GCA376154104CUBNc.3139G>C (p.Ala1047Pro)
10g.17065508C>TCA376154106CUBNc.3139G>A (p.Ala1047Thr)
10g.17065509delCA2697558287CUBNc.3138del (p.Ala1047HisfsTer?)
ClinVar
10g.17065509T>ACA468302660CUBNc.3138A>T (p.Thr1046=)
10g.17065509T>CCA468302661CUBNc.3138A>G (p.Thr1046=)
10g.17065509T>GCA468302662CUBNc.3138A>C (p.Thr1046=)
10g.17065510G>ACA376154110CUBNc.3137C>T (p.Thr1046Ile)
dbSNP
10g.17065510G>CCA376154112CUBNc.3137C>G (p.Thr1046Arg)
10g.17065510G=CA1893442234CUBNc.3137C= (p.Thr1046=)
10g.17065510G>TCA376154114CUBNc.3137C>A (p.Thr1046Lys)
10g.17065511T>ACA376154116CUBNc.3136A>T (p.Thr1046Ser)
dbSNP gnomAD v4
10g.17065511T>CCA376154123CUBNc.3136A>G (p.Thr1046Ala)
10g.17065511T>GCA376154125CUBNc.3136A>C (p.Thr1046Pro)
10g.17065511T=CA1893442235CUBNc.3136A= (p.Thr1046=)
10g.17065512T>ACA468302663CUBNc.3135A>T (p.Ala1045=)
10g.17065512T>CCA468302664CUBNc.3135A>G (p.Ala1045=)
gnomAD v3 gnomAD v4
10g.17065512T>GCA468302665CUBNc.3135A>C (p.Ala1045=)
10g.17065513G>ACA376154127CUBNc.3134C>T (p.Ala1045Val)
10g.17065513G>CCA376154131CUBNc.3134C>G (p.Ala1045Gly)
10g.17065513G>TCA376154129CUBNc.3134C>A (p.Ala1045Glu)
10g.17065514C>ACA376154134CUBNc.3133G>T (p.Ala1045Ser)
10g.17065514C=CA1893442236CUBNc.3133G= (p.Ala1045=)
10g.17065514C>GCA376154135CUBNc.3133G>C (p.Ala1045Pro)
10g.17065514C>TCA5424758CUBNc.3133G>A (p.Ala1045Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17065515T>ACA468302666CUBNc.3132A>T (p.Ala1044=)
10g.17065515T>CCA468302667CUBNc.3132A>G (p.Ala1044=)
10g.17065515T>GCA468302668CUBNc.3132A>C (p.Ala1044=)
10g.17065516G>ACA376154141CUBNc.3131C>T (p.Ala1044Val)
10g.17065516G>CCA376154143CUBNc.3131C>G (p.Ala1044Gly)
10g.17065516G>TCA376154144CUBNc.3131C>A (p.Ala1044Glu)
10g.17065517C>ACA376154145CUBNc.3130G>T (p.Ala1044Ser)
10g.17065517C>GCA376154146CUBNc.3130G>C (p.Ala1044Pro)
10g.17065517C>TCA376154147CUBNc.3130G>A (p.Ala1044Thr)
10g.17065518A=CA1893442237CUBNc.3129T= (p.Ser1043=)
10g.17065518A>CCA376154148CUBNc.3129T>G (p.Ser1043Arg)
10g.17065518A>GCA5424759CUBNc.3129T>C (p.Ser1043=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065518A>TCA376154149CUBNc.3129T>A (p.Ser1043Arg)
10g.17065519C>ACA376154153CUBNc.3128G>T (p.Ser1043Ile)
10g.17065519C>GCA376154150CUBNc.3128G>C (p.Ser1043Thr)
10g.17065519C>TCA376154151CUBNc.3128G>A (p.Ser1043Asn)
COSMIC
10g.17065520T>ACA376154155CUBNc.3127A>T (p.Ser1043Cys)
10g.17065520T>CCA376154156CUBNc.3127A>G (p.Ser1043Gly)
gnomAD v4
10g.17065520T>GCA376154157CUBNc.3127A>C (p.Ser1043Arg)
10g.17065521G>ACA468302670CUBNc.3126C>T (p.Ile1042=)
10g.17065521G>CCA376154158CUBNc.3126C>G (p.Ile1042Met)
10g.17065521G>TCA468302669CUBNc.3126C>A (p.Ile1042=)
10g.17065522A>CCA376154159CUBNc.3125T>G (p.Ile1042Ser)
10g.17065522A>GCA376154160CUBNc.3125T>C (p.Ile1042Thr)
10g.17065522A>TCA376154161CUBNc.3125T>A (p.Ile1042Asn)
10g.17065523T>ACA376154162CUBNc.3124A>T (p.Ile1042Phe)
10g.17065523T>CCA376154164CUBNc.3124A>G (p.Ile1042Val)
gnomAD v4
10g.17065523T>GCA376154165CUBNc.3124A>C (p.Ile1042Leu)
10g.17065524T>ACA468302671CUBNc.3123A>T (p.Ala1041=)
10g.17065524T>CCA468302672CUBNc.3123A>G (p.Ala1041=)
dbSNP gnomAD v4
10g.17065524T>GCA468302673CUBNc.3123A>C (p.Ala1041=)
10g.17065524T=CA1893442238CUBNc.3123A= (p.Ala1041=)
10g.17065525G>ACA376154166CUBNc.3122C>T (p.Ala1041Val)
10g.17065525G>CCA376154167CUBNc.3122C>G (p.Ala1041Gly)
dbSNP gnomAD v2 gnomAD v4
10g.17065525G=CA1893442239CUBNc.3122C= (p.Ala1041=)
10g.17065525G>TCA376154168CUBNc.3122C>A (p.Ala1041Glu)
10g.17065526C>ACA376154173CUBNc.3121G>T (p.Ala1041Ser)
10g.17065526C=CA1893442240CUBNc.3121G= (p.Ala1041=)
10g.17065526C>GCA376154171CUBNc.3121G>C (p.Ala1041Pro)
10g.17065526C>TCA5424760CUBNc.3121G>A (p.Ala1041Thr)
dbSNP ExAC gnomAD v2
10g.17065527T>ACA376154175CUBNc.3120A>T (p.Glu1040Asp)
10g.17065527T>CCA468302674CUBNc.3120A>G (p.Glu1040=)
10g.17065527T>GCA203630615CUBNc.3120A>C (p.Glu1040Asp)
dbSNP gnomAD v4
10g.17065527T=CA1893442241CUBNc.3120A= (p.Glu1040=)
10g.17065528T>ACA376154177CUBNc.3119A>T (p.Glu1040Val)
10g.17065528T>CCA376154178CUBNc.3119A>G (p.Glu1040Gly)
10g.17065528T>GCA376154179CUBNc.3119A>C (p.Glu1040Ala)
10g.17065529C>ACA376154182CUBNc.3118G>T (p.Glu1040Ter)
10g.17065529C>GCA376154184CUBNc.3118G>C (p.Glu1040Gln)
10g.17065529C>TCA376154186CUBNc.3118G>A (p.Glu1040Lys)
10g.17065530A=CA1893442242CUBNc.3117T= (p.Tyr1039=)
10g.17065530A>CCA376154189CUBNc.3117T>G (p.Tyr1039Ter)
10g.17065530A>GCA468302675CUBNc.3117T>C (p.Tyr1039=)
dbSNP gnomAD v3 gnomAD v4
10g.17065530A>TCA376154191CUBNc.3117T>A (p.Tyr1039Ter)
dbSNP gnomAD v2
10g.17065531T>ACA376154193CUBNc.3116A>T (p.Tyr1039Phe)
10g.17065531T>CCA5424761CUBNc.3116A>G (p.Tyr1039Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17065531T>GCA376154196CUBNc.3116A>C (p.Tyr1039Ser)
dbSNP gnomAD v4
10g.17065531T=CA1893442243CUBNc.3116A= (p.Tyr1039=)
10g.17065532A>CCA376154206CUBNc.3115T>G (p.Tyr1039Asp)
10g.17065532A>GCA376154202CUBNc.3115T>C (p.Tyr1039His)
gnomAD v4
10g.17065532A>TCA376154200CUBNc.3115T>A (p.Tyr1039Asn)
10g.17065533G>ACA468302676CUBNc.3114C>T (p.Asn1038=)
10g.17065533G>CCA376154208CUBNc.3114C>G (p.Asn1038Lys)
10g.17065533G>TCA376154210CUBNc.3114C>A (p.Asn1038Lys)
10g.17065534T>ACA376154212CUBNc.3113A>T (p.Asn1038Ile)
10g.17065534T>CCA376154215CUBNc.3113A>G (p.Asn1038Ser)
10g.17065534T>GCA376154218CUBNc.3113A>C (p.Asn1038Thr)
10g.17065535T>ACA376154219CUBNc.3112A>T (p.Asn1038Tyr)
10g.17065535T>CCA376154221CUBNc.3112A>G (p.Asn1038Asp)
COSMIC
10g.17065535T>GCA376154222CUBNc.3112A>C (p.Asn1038His)
10g.17065536T>ACA468302678CUBNc.3111A>T (p.Ile1037=)
10g.17065536T>CCA376154225CUBNc.3111A>G (p.Ile1037Met)
gnomAD v4
10g.17065536T>GCA468302677CUBNc.3111A>C (p.Ile1037=)
10g.17065537A>CCA376154227CUBNc.3110T>G (p.Ile1037Arg)
10g.17065537A>GCA376154229CUBNc.3110T>C (p.Ile1037Thr)
COSMIC
10g.17065537A>TCA376154230CUBNc.3110T>A (p.Ile1037Lys)
10g.17065538T>ACA376154233CUBNc.3109A>T (p.Ile1037Leu)
10g.17065538T>CCA376154236CUBNc.3109A>G (p.Ile1037Val)
10g.17065538T>GCA376154237CUBNc.3109A>C (p.Ile1037Leu)

Number of alleles fetched