Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50180588_50180590dupCA2624772313SOS2c.951_953dup (p.Val318_Ala319insVal)
c.65_67dup
c.771_773dup (p.Val258_Ala259insVal)
c.912_914dup (p.Val305_Ala306insVal)
n.954-3199_954-3197dup
 gnomAD v4
14g.50180589C>ACA7177414SOS2c.952G>T (p.Val318Phe)
c.66G>T
c.772G>T (p.Val258Phe)
c.913G>T (p.Val305Phe)
n.954-3198C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50180589C=CA2136084595SOS2c.952G= (p.Val318=)
c.66G=
c.772G= (p.Val258=)
c.913G= (p.Val305=)
n.954-3198C=
14g.50180589C>GCA389646932SOS2c.952G>C (p.Val318Leu)
c.66G>C
c.772G>C (p.Val258Leu)
c.913G>C (p.Val305Leu)
n.954-3198C>G
 gnomAD v4
14g.50180589C>TCA389646933SOS2c.952G>A (p.Val318Ile)
c.66G>A
c.772G>A (p.Val258Ile)
c.913G>A (p.Val305Ile)
n.954-3198C>T
 gnomAD v4
14g.50180590T>ACA486169302SOS2c.951A>T (p.Ala317=)
c.65A>T
c.771A>T (p.Ala257=)
c.912A>T (p.Ala304=)
n.954-3197T>A
14g.50180590T>CCA486169304SOS2c.951A>G (p.Ala317=)
c.65A>G
c.771A>G (p.Ala257=)
c.912A>G (p.Ala304=)
n.954-3197T>C
 gnomAD v4
14g.50180590T>GCA486169307SOS2c.951A>C (p.Ala317=)
c.65A>C
c.771A>C (p.Ala257=)
c.912A>C (p.Ala304=)
n.954-3197T>G
14g.50180591G>ACA260706613SOS2c.950C>T (p.Ala317Val)
c.64C>T
c.770C>T (p.Ala257Val)
c.911C>T (p.Ala304Val)
n.954-3196G>A
 dbSNP gnomAD v4
14g.50180591G>CCA389646935SOS2c.950C>G (p.Ala317Gly)
c.64C>G
c.770C>G (p.Ala257Gly)
c.911C>G (p.Ala304Gly)
n.954-3196G>C
14g.50180591G=CA2136084598SOS2c.950C= (p.Ala317=)
c.64C=
c.770C= (p.Ala257=)
c.911C= (p.Ala304=)
n.954-3196G=
14g.50180591G>TCA389646934SOS2c.950C>A (p.Ala317Glu)
c.64C>A
c.770C>A (p.Ala257Glu)
c.911C>A (p.Ala304Glu)
n.954-3196G>T
 gnomAD v4
14g.50180592C>ACA389646936SOS2c.949G>T (p.Ala317Ser)
c.63G>T
c.769G>T (p.Ala257Ser)
c.910G>T (p.Ala304Ser)
n.954-3195C>A
 gnomAD v4
14g.50180592C>GCA389646938SOS2c.949G>C (p.Ala317Pro)
c.63G>C
c.769G>C (p.Ala257Pro)
c.910G>C (p.Ala304Pro)
n.954-3195C>G
14g.50180592C>TCA389646937SOS2c.949G>A (p.Ala317Thr)
c.63G>A
c.769G>A (p.Ala257Thr)
c.910G>A (p.Ala304Thr)
n.954-3195C>T
 ClinVar dbSNP gnomAD v4
14g.50180593A=CA2136084600SOS2c.948T= (p.Pro316=)
c.62T=
c.768T= (p.Pro256=)
c.909T= (p.Pro303=)
n.954-3194A=
14g.50180593A>CCA486169319SOS2c.948T>G (p.Pro316=)
c.62T>G
c.768T>G (p.Pro256=)
c.909T>G (p.Pro303=)
n.954-3194A>C
14g.50180593A>GCA486169331SOS2c.948T>C (p.Pro316=)
c.62T>C
c.768T>C (p.Pro256=)
c.909T>C (p.Pro303=)
n.954-3194A>G
 gnomAD v4
14g.50180593A>TCA486169321SOS2c.948T>A (p.Pro316=)
c.62T>A
c.768T>A (p.Pro256=)
c.909T>A (p.Pro303=)
n.954-3194A>T
 dbSNP gnomAD v4
14g.50180594G>ACA389646939SOS2c.947C>T (p.Pro316Leu)
c.61C>T
c.767C>T (p.Pro256Leu)
c.908C>T (p.Pro303Leu)
n.954-3193G>A
14g.50180594G>CCA389646940SOS2c.947C>G (p.Pro316Arg)
c.61C>G
c.767C>G (p.Pro256Arg)
c.908C>G (p.Pro303Arg)
n.954-3193G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.50180594G=CA2136084601SOS2c.947C= (p.Pro316=)
c.61C=
c.767C= (p.Pro256=)
c.908C= (p.Pro303=)
n.954-3193G=
14g.50180594G>TCA389646941SOS2c.947C>A (p.Pro316His)
c.61C>A
c.767C>A (p.Pro256His)
c.908C>A (p.Pro303His)
n.954-3193G>T
 gnomAD v4
14g.50180595G>ACA389646942SOS2c.946C>T (p.Pro316Ser)
c.60C>T
c.766C>T (p.Pro256Ser)
c.907C>T (p.Pro303Ser)
n.954-3192G>A
14g.50180595G>CCA389646943SOS2c.946C>G (p.Pro316Ala)
c.60C>G
c.766C>G (p.Pro256Ala)
c.907C>G (p.Pro303Ala)
n.954-3192G>C
14g.50180595G>TCA389646944SOS2c.946C>A (p.Pro316Thr)
c.60C>A
c.766C>A (p.Pro256Thr)
c.907C>A (p.Pro303Thr)
n.954-3192G>T
 gnomAD v4
14g.50180596T>ACA389646945SOS2c.945A>T (p.Arg315Ser)
c.59A>T
c.765A>T (p.Arg255Ser)
c.906A>T (p.Arg302Ser)
n.954-3191T>A
14g.50180596T>CCA486169353SOS2c.945A>G (p.Arg315=)
c.59A>G
c.765A>G (p.Arg255=)
c.906A>G (p.Arg302=)
n.954-3191T>C
 gnomAD v4
14g.50180596T>GCA389646946SOS2c.945A>C (p.Arg315Ser)
c.59A>C
c.765A>C (p.Arg255Ser)
c.906A>C (p.Arg302Ser)
n.954-3191T>G
14g.50180597C>ACA389646947SOS2c.944G>T (p.Arg315Ile)
c.58G>T
c.764G>T (p.Arg255Ile)
c.905G>T (p.Arg302Ile)
n.954-3190C>A
 gnomAD v4 COSMIC COSMIC
14g.50180597C>GCA389646948SOS2c.944G>C (p.Arg315Thr)
c.58G>C
c.764G>C (p.Arg255Thr)
c.905G>C (p.Arg302Thr)
n.954-3190C>G
 COSMIC COSMIC
14g.50180597C>TCA389646949SOS2c.944G>A (p.Arg315Lys)
c.58G>A
c.764G>A (p.Arg255Lys)
c.905G>A (p.Arg302Lys)
n.954-3190C>T
 ClinVar dbSNP
14g.50180598T>ACA389646950SOS2c.943A>T (p.Arg315Ter)
c.57A>T
c.763A>T (p.Arg255Ter)
c.904A>T (p.Arg302Ter)
n.954-3189T>A
14g.50180598T>CCA389646951SOS2c.943A>G (p.Arg315Gly)
c.57A>G
c.763A>G (p.Arg255Gly)
c.904A>G (p.Arg302Gly)
n.954-3189T>C
14g.50180598T>GCA486169363SOS2c.943A>C (p.Arg315=)
c.57A>C
c.763A>C (p.Arg255=)
c.904A>C (p.Arg302=)
n.954-3189T>G
14g.50180599G>ACA486169366SOS2c.942C>T (p.Ala314=)
c.56C>T
c.762C>T (p.Ala254=)
c.903C>T (p.Ala301=)
n.954-3188G>A
 gnomAD v4
14g.50180599G>CCA486169368SOS2c.942C>G (p.Ala314=)
c.56C>G
c.762C>G (p.Ala254=)
c.903C>G (p.Ala301=)
n.954-3188G>C
 ClinVar
14g.50180599G>TCA486169371SOS2c.942C>A (p.Ala314=)
c.56C>A
c.762C>A (p.Ala254=)
c.903C>A (p.Ala301=)
n.954-3188G>T
 gnomAD v4
14g.50180600G>ACA389646954SOS2c.941C>T (p.Ala314Val)
c.55C>T
c.761C>T (p.Ala254Val)
c.902C>T (p.Ala301Val)
n.954-3187G>A
 gnomAD v4
14g.50180600G>CCA389646953SOS2c.941C>G (p.Ala314Gly)
c.55C>G
c.761C>G (p.Ala254Gly)
c.902C>G (p.Ala301Gly)
n.954-3187G>C
 dbSNP gnomAD v2 gnomAD v4
14g.50180600G=CA2136084603SOS2c.941C= (p.Ala314=)
c.55C=
c.761C= (p.Ala254=)
c.902C= (p.Ala301=)
n.954-3187G=
14g.50180600G>TCA389646952SOS2c.941C>A (p.Ala314Asp)
c.55C>A
c.761C>A (p.Ala254Asp)
c.902C>A (p.Ala301Asp)
n.954-3187G>T
 gnomAD v4
14g.50180601C>ACA389646955SOS2c.940G>T (p.Ala314Ser)
c.54G>T
c.760G>T (p.Ala254Ser)
c.901G>T (p.Ala301Ser)
n.954-3186C>A
 gnomAD v4
14g.50180601C=CA2136084607SOS2c.940G= (p.Ala314=)
c.54G=
c.760G= (p.Ala254=)
c.901G= (p.Ala301=)
n.954-3186C=
14g.50180601C>GCA389646956SOS2c.940G>C (p.Ala314Pro)
c.54G>C
c.760G>C (p.Ala254Pro)
c.901G>C (p.Ala301Pro)
n.954-3186C>G
 gnomAD v4
14g.50180601C>TCA389646957SOS2c.940G>A (p.Ala314Thr)
c.54G>A
c.760G>A (p.Ala254Thr)
c.901G>A (p.Ala301Thr)
n.954-3186C>T
 ClinVar dbSNP gnomAD v4
14g.50180602C>ACA389646958SOS2c.939G>T (p.Met313Ile)
c.53G>T
c.759G>T (p.Met253Ile)
c.900G>T (p.Met300Ile)
n.954-3185C>A
14g.50180602C=CA2136084611SOS2c.939G= (p.Met313=)
c.53G=
c.759G= (p.Met253=)
c.900G= (p.Met300=)
n.954-3185C=
14g.50180602C>GCA389646959SOS2c.939G>C (p.Met313Ile)
c.53G>C
c.759G>C (p.Met253Ile)
c.900G>C (p.Met300Ile)
n.954-3185C>G
14g.50180602C>TCA389646960SOS2c.939G>A (p.Met313Ile)
c.53G>A
c.759G>A (p.Met253Ile)
c.900G>A (p.Met300Ile)
n.954-3185C>T
 dbSNP gnomAD v3 gnomAD v4
14g.50180603A>CCA389646961SOS2c.938T>G (p.Met313Arg)
c.52T>G
c.758T>G (p.Met253Arg)
c.899T>G (p.Met300Arg)
n.954-3184A>C
14g.50180603A>GCA389646962SOS2c.938T>C (p.Met313Thr)
c.52T>C
c.758T>C (p.Met253Thr)
c.899T>C (p.Met300Thr)
n.954-3184A>G
14g.50180603A>TCA389646963SOS2c.938T>A (p.Met313Lys)
c.52T>A
c.758T>A (p.Met253Lys)
c.899T>A (p.Met300Lys)
n.954-3184A>T
14g.50180604T>ACA389646964SOS2c.937A>T (p.Met313Leu)
c.51A>T
c.757A>T (p.Met253Leu)
c.898A>T (p.Met300Leu)
n.954-3183T>A
14g.50180604T>CCA389646965SOS2c.937A>G (p.Met313Val)
c.51A>G
c.757A>G (p.Met253Val)
c.898A>G (p.Met300Val)
n.954-3183T>C
 gnomAD v4
14g.50180604T>GCA389646966SOS2c.937A>C (p.Met313Leu)
c.51A>C
c.757A>C (p.Met253Leu)
c.898A>C (p.Met300Leu)
n.954-3183T>G
14g.50180605C>ACA389646967SOS2c.936G>T (p.Leu312Phe)
c.50G>T
c.756G>T (p.Leu252Phe)
c.897G>T (p.Leu299Phe)
n.954-3182C>A
14g.50180605C>GCA389646968SOS2c.936G>C (p.Leu312Phe)
c.50G>C
c.756G>C (p.Leu252Phe)
c.897G>C (p.Leu299Phe)
n.954-3182C>G
14g.50180605C>TCA486169411SOS2c.936G>A (p.Leu312=)
c.50G>A
c.756G>A (p.Leu252=)
c.897G>A (p.Leu299=)
n.954-3182C>T
 dbSNP
14g.50180606A>CCA389646970SOS2c.935T>G (p.Leu312Trp)
c.49T>G
c.755T>G (p.Leu252Trp)
c.896T>G (p.Leu299Trp)
n.954-3181A>C
14g.50180606A>GCA389646971SOS2c.935T>C (p.Leu312Ser)
c.49T>C
c.755T>C (p.Leu252Ser)
c.896T>C (p.Leu299Ser)
n.954-3181A>G
 gnomAD v4
14g.50180606A>TCA389646969SOS2c.935T>A (p.Leu312Ter)
c.49T>A
c.755T>A (p.Leu252Ter)
c.896T>A (p.Leu299Ter)
n.954-3181A>T
14g.50180607A=CA2136084613SOS2c.934T= (p.Leu312=)
c.48T=
c.754T= (p.Leu252=)
c.895T= (p.Leu299=)
n.954-3180A=
14g.50180607A>CCA389646972SOS2c.934T>G (p.Leu312Val)
c.48T>G
c.754T>G (p.Leu252Val)
c.895T>G (p.Leu299Val)
n.954-3180A>C
 dbSNP
14g.50180607A>GCA7177415SOS2c.934T>C (p.Leu312=)
c.48T>C
c.754T>C (p.Leu252=)
c.895T>C (p.Leu299=)
n.954-3180A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50180607A>TCA389646973SOS2c.934T>A (p.Leu312Met)
c.48T>A
c.754T>A (p.Leu252Met)
c.895T>A (p.Leu299Met)
n.954-3180A>T
14g.50180608T>ACA389646974SOS2c.933A>T (p.Lys311Asn)
c.47A>T
c.753A>T (p.Lys251Asn)
c.894A>T (p.Lys298Asn)
n.954-3179T>A
 dbSNP
14g.50180608T>CCA486169418SOS2c.933A>G (p.Lys311=)
c.47A>G
c.753A>G (p.Lys251=)
c.894A>G (p.Lys298=)
n.954-3179T>C
14g.50180608T>GCA389646975SOS2c.933A>C (p.Lys311Asn)
c.47A>C
c.753A>C (p.Lys251Asn)
c.894A>C (p.Lys298Asn)
n.954-3179T>G
14g.50180608T=CA2136084616SOS2c.933A= (p.Lys311=)
c.47A=
c.753A= (p.Lys251=)
c.894A= (p.Lys298=)
n.954-3179T=
14g.50180609T>ACA389646976SOS2c.932A>T (p.Lys311Ile)
c.46A>T
c.752A>T (p.Lys251Ile)
c.893A>T (p.Lys298Ile)
n.954-3178T>A
14g.50180609T>CCA389646977SOS2c.932A>G (p.Lys311Arg)
c.46A>G
c.752A>G (p.Lys251Arg)
c.893A>G (p.Lys298Arg)
n.954-3178T>C
14g.50180609T>GCA389646978SOS2c.932A>C (p.Lys311Thr)
c.46A>C
c.752A>C (p.Lys251Thr)
c.893A>C (p.Lys298Thr)
n.954-3178T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.50180610T>ACA260706640SOS2c.931A>T (p.Lys311Ter)
c.45A>T
c.751A>T (p.Lys251Ter)
c.892A>T (p.Lys298Ter)
n.954-3177T>A
 dbSNP
14g.50180610T>CCA389646979SOS2c.931A>G (p.Lys311Glu)
c.45A>G
c.751A>G (p.Lys251Glu)
c.892A>G (p.Lys298Glu)
n.954-3177T>C
14g.50180610T>GCA389646980SOS2c.931A>C (p.Lys311Gln)
c.45A>C
c.751A>C (p.Lys251Gln)
c.892A>C (p.Lys298Gln)
n.954-3177T>G
14g.50180610T=CA2136084618SOS2c.931A= (p.Lys311=)
c.45A=
c.751A= (p.Lys251=)
c.892A= (p.Lys298=)
n.954-3177T=
14g.50180611A>CCA389646981SOS2c.930T>G (p.Asn310Lys)
c.44T>G
c.750T>G (p.Asn250Lys)
c.891T>G (p.Asn297Lys)
n.954-3176A>C
14g.50180611A>GCA486169439SOS2c.930T>C (p.Asn310=)
c.44T>C
c.750T>C (p.Asn250=)
c.891T>C (p.Asn297=)
n.954-3176A>G
14g.50180611A>TCA389646982SOS2c.930T>A (p.Asn310Lys)
c.44T>A
c.750T>A (p.Asn250Lys)
c.891T>A (p.Asn297Lys)
n.954-3176A>T
14g.50180612T>ACA389646983SOS2c.929A>T (p.Asn310Ile)
c.43A>T
c.749A>T (p.Asn250Ile)
c.890A>T (p.Asn297Ile)
n.954-3175T>A
14g.50180612T>CCA7177416SOS2c.929A>G (p.Asn310Ser)
c.43A>G
c.749A>G (p.Asn250Ser)
c.890A>G (p.Asn297Ser)
n.954-3175T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50180612T>GCA389646984SOS2c.929A>C (p.Asn310Thr)
c.43A>C
c.749A>C (p.Asn250Thr)
c.890A>C (p.Asn297Thr)
n.954-3175T>G
14g.50180612T=CA2136084622SOS2c.929A= (p.Asn310=)
c.43A=
c.749A= (p.Asn250=)
c.890A= (p.Asn297=)
n.954-3175T=
14g.50180613T>ACA389646985SOS2c.928A>T (p.Asn310Tyr)
c.42A>T
c.748A>T (p.Asn250Tyr)
c.889A>T (p.Asn297Tyr)
n.954-3174T>A
14g.50180613T>CCA7177417SOS2c.928A>G (p.Asn310Asp)
c.42A>G
c.748A>G (p.Asn250Asp)
c.889A>G (p.Asn297Asp)
n.954-3174T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50180613T>GCA389646986SOS2c.928A>C (p.Asn310His)
c.42A>C
c.748A>C (p.Asn250His)
c.889A>C (p.Asn297His)
n.954-3174T>G
14g.50180613T=CA2136084625SOS2c.928A= (p.Asn310=)
c.42A=
c.748A= (p.Asn250=)
c.889A= (p.Asn297=)
n.954-3174T=
14g.50180614G>ACA486169460SOS2c.927C>T (p.Phe309=)
c.41C>T
c.747C>T (p.Phe249=)
c.888C>T (p.Phe296=)
n.954-3173G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50180614G>CCA389646987SOS2c.927C>G (p.Phe309Leu)
c.41C>G
c.747C>G (p.Phe249Leu)
c.888C>G (p.Phe296Leu)
n.954-3173G>C
 gnomAD v4
14g.50180614G=CA2136084629SOS2c.927C= (p.Phe309=)
c.41C=
c.747C= (p.Phe249=)
c.888C= (p.Phe296=)
n.954-3173G=
14g.50180614G>TCA389646988SOS2c.927C>A (p.Phe309Leu)
c.41C>A
c.747C>A (p.Phe249Leu)
c.888C>A (p.Phe296Leu)
n.954-3173G>T
 gnomAD v4
14g.50180615A>CCA389646989SOS2c.926T>G (p.Phe309Cys)
c.40T>G
c.746T>G (p.Phe249Cys)
c.887T>G (p.Phe296Cys)
n.954-3172A>C
14g.50180615A>GCA389646990SOS2c.926T>C (p.Phe309Ser)
c.40T>C
c.746T>C (p.Phe249Ser)
c.887T>C (p.Phe296Ser)
n.954-3172A>G
14g.50180615A>TCA389646991SOS2c.926T>A (p.Phe309Tyr)
c.40T>A
c.746T>A (p.Phe249Tyr)
c.887T>A (p.Phe296Tyr)
n.954-3172A>T
14g.50180616A>CCA389646992SOS2c.925T>G (p.Phe309Val)
c.39T>G
c.745T>G (p.Phe249Val)
c.886T>G (p.Phe296Val)
n.954-3171A>C
14g.50180616A>GCA389646993SOS2c.925T>C (p.Phe309Leu)
c.39T>C
c.745T>C (p.Phe249Leu)
c.886T>C (p.Phe296Leu)
n.954-3171A>G
14g.50180616A>TCA389646994SOS2c.925T>A (p.Phe309Ile)
c.39T>A
c.745T>A (p.Phe249Ile)
c.886T>A (p.Phe296Ile)
n.954-3171A>T
14g.50180617A>CCA389646995SOS2c.924T>G (p.His308Gln)
c.38T>G
c.744T>G (p.His248Gln)
c.885T>G (p.His295Gln)
n.954-3170A>C
14g.50180617A>GCA486169481SOS2c.924T>C (p.His308=)
c.38T>C
c.744T>C (p.His248=)
c.885T>C (p.His295=)
n.954-3170A>G
 gnomAD v4
14g.50180617A>TCA389646996SOS2c.924T>A (p.His308Gln)
c.38T>A
c.744T>A (p.His248Gln)
c.885T>A (p.His295Gln)
n.954-3170A>T
14g.50180618T>ACA389646997SOS2c.923A>T (p.His308Leu)
c.37A>T
c.743A>T (p.His248Leu)
c.884A>T (p.His295Leu)
n.954-3169T>A
14g.50180618T>CCA389646999SOS2c.923A>G (p.His308Arg)
c.37A>G
c.743A>G (p.His248Arg)
c.884A>G (p.His295Arg)
n.954-3169T>C
14g.50180618T>GCA389646998SOS2c.923A>C (p.His308Pro)
c.37A>C
c.743A>C (p.His248Pro)
c.884A>C (p.His295Pro)
n.954-3169T>G
14g.50180619G>ACA389647000SOS2c.922C>T (p.His308Tyr)
c.36C>T
c.742C>T (p.His248Tyr)
c.883C>T (p.His295Tyr)
n.954-3168G>A
14g.50180619G>CCA389647001SOS2c.922C>G (p.His308Asp)
c.36C>G
c.742C>G (p.His248Asp)
c.883C>G (p.His295Asp)
n.954-3168G>C
14g.50180619G>TCA389647002SOS2c.922C>A (p.His308Asn)
c.36C>A
c.742C>A (p.His248Asn)
c.883C>A (p.His295Asn)
n.954-3168G>T
14g.50180620T>ACA389647003SOS2c.921A>T (p.Glu307Asp)
c.35A>T
c.741A>T (p.Glu247Asp)
c.882A>T (p.Glu294Asp)
n.954-3167T>A
14g.50180620T>CCA7177418SOS2c.921A>G (p.Glu307=)
c.35A>G
c.741A>G (p.Glu247=)
c.882A>G (p.Glu294=)
n.954-3167T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50180620T>GCA389647004SOS2c.921A>C (p.Glu307Asp)
c.35A>C
c.741A>C (p.Glu247Asp)
c.882A>C (p.Glu294Asp)
n.954-3167T>G
14g.50180620T=CA2136084632SOS2c.921A= (p.Glu307=)
c.35A=
c.741A= (p.Glu247=)
c.882A= (p.Glu294=)
n.954-3167T=
14g.50180621T>ACA260706687SOS2c.920A>T (p.Glu307Val)
c.34A>T
c.740A>T (p.Glu247Val)
c.881A>T (p.Glu294Val)
n.954-3166T>A
 dbSNP
14g.50180621T>CCA389647005SOS2c.920A>G (p.Glu307Gly)
c.34A>G
c.740A>G (p.Glu247Gly)
c.881A>G (p.Glu294Gly)
n.954-3166T>C
14g.50180621T>GCA389647006SOS2c.920A>C (p.Glu307Ala)
c.34A>C
c.740A>C (p.Glu247Ala)
c.881A>C (p.Glu294Ala)
n.954-3166T>G
14g.50180621T=CA2136084634SOS2c.920A= (p.Glu307=)
c.34A=
c.740A= (p.Glu247=)
c.881A= (p.Glu294=)
n.954-3166T=
14g.50180622C>ACA389647007SOS2c.919G>T (p.Glu307Ter)
c.33G>T
c.739G>T (p.Glu247Ter)
c.880G>T (p.Glu294Ter)
n.954-3165C>A
 gnomAD v4
14g.50180622C=CA2136084638SOS2c.919G= (p.Glu307=)
c.33G=
c.739G= (p.Glu247=)
c.880G= (p.Glu294=)
n.954-3165C=
14g.50180622C>GCA389647008SOS2c.919G>C (p.Glu307Gln)
c.33G>C
c.739G>C (p.Glu247Gln)
c.880G>C (p.Glu294Gln)
n.954-3165C>G
14g.50180622C>TCA260706701SOS2c.919G>A (p.Glu307Lys)
c.33G>A
c.739G>A (p.Glu247Lys)
c.880G>A (p.Glu294Lys)
n.954-3165C>T
 dbSNP gnomAD v3 gnomAD v4
14g.50180623A=CA2136084640SOS2c.918T= (p.His306=)
c.32T=
c.738T= (p.His246=)
c.879T= (p.His293=)
n.954-3164A=
14g.50180623A>CCA389647009SOS2c.918T>G (p.His306Gln)
c.32T>G
c.738T>G (p.His246Gln)
c.879T>G (p.His293Gln)
n.954-3164A>C
14g.50180623A>GCA486169510SOS2c.918T>C (p.His306=)
c.32T>C
c.738T>C (p.His246=)
c.879T>C (p.His293=)
n.954-3164A>G
 dbSNP
14g.50180623A>TCA389647010SOS2c.918T>A (p.His306Gln)
c.32T>A
c.738T>A (p.His246Gln)
c.879T>A (p.His293Gln)
n.954-3164A>T
14g.50180624T>ACA389647011SOS2c.917A>T (p.His306Leu)
c.31A>T
c.737A>T (p.His246Leu)
c.878A>T (p.His293Leu)
n.954-3163T>A
14g.50180624T>CCA7177419SOS2c.917A>G (p.His306Arg)
c.31A>G
c.737A>G (p.His246Arg)
c.878A>G (p.His293Arg)
n.954-3163T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50180624T>GCA389647012SOS2c.917A>C (p.His306Pro)
c.31A>C
c.737A>C (p.His246Pro)
c.878A>C (p.His293Pro)
n.954-3163T>G
14g.50180624T=CA2136084643SOS2c.917A= (p.His306=)
c.31A=
c.737A= (p.His246=)
c.878A= (p.His293=)
n.954-3163T=
14g.50180625G>ACA389647013SOS2c.916C>T (p.His306Tyr)
c.30C>T
c.736C>T (p.His246Tyr)
c.877C>T (p.His293Tyr)
n.954-3162G>A
14g.50180625G>CCA389647014SOS2c.916C>G (p.His306Asp)
c.30C>G
c.736C>G (p.His246Asp)
c.877C>G (p.His293Asp)
n.954-3162G>C
14g.50180625G>TCA389647015SOS2c.916C>A (p.His306Asn)
c.30C>A
c.736C>A (p.His246Asn)
c.877C>A (p.His293Asn)
n.954-3162G>T
14g.50180626A>CCA389647016SOS2c.915T>G (p.Phe305Leu)
c.29T>G
c.735T>G (p.Phe245Leu)
c.876T>G (p.Phe292Leu)
n.954-3161A>C
14g.50180626A>GCA486169528SOS2c.915T>C (p.Phe305=)
c.29T>C
c.735T>C (p.Phe245=)
c.876T>C (p.Phe292=)
n.954-3161A>G
14g.50180626A>TCA389647017SOS2c.915T>A (p.Phe305Leu)
c.29T>A
c.735T>A (p.Phe245Leu)
c.876T>A (p.Phe292Leu)
n.954-3161A>T
14g.50180627A>CCA389647018SOS2c.914T>G (p.Phe305Cys)
c.28T>G
c.734T>G (p.Phe245Cys)
c.875T>G (p.Phe292Cys)
n.954-3160A>C
14g.50180627A>GCA389647019SOS2c.914T>C (p.Phe305Ser)
c.28T>C
c.734T>C (p.Phe245Ser)
c.875T>C (p.Phe292Ser)
n.954-3160A>G
14g.50180627A>TCA389647020SOS2c.914T>A (p.Phe305Tyr)
c.28T>A
c.734T>A (p.Phe245Tyr)
c.875T>A (p.Phe292Tyr)
n.954-3160A>T
14g.50180628A>CCA389647021SOS2c.913T>G (p.Phe305Val)
c.27T>G
c.733T>G (p.Phe245Val)
c.874T>G (p.Phe292Val)
n.954-3159A>C
14g.50180628A>GCA389647022SOS2c.913T>C (p.Phe305Leu)
c.27T>C
c.733T>C (p.Phe245Leu)
c.874T>C (p.Phe292Leu)
n.954-3159A>G
14g.50180628A>TCA389647023SOS2c.913T>A (p.Phe305Ile)
c.27T>A
c.733T>A (p.Phe245Ile)
c.874T>A (p.Phe292Ile)
n.954-3159A>T
14g.50180629C>ACA389647024SOS2c.912G>T (p.Glu304Asp)
c.26G>T
c.732G>T (p.Glu244Asp)
c.873G>T (p.Glu291Asp)
n.954-3158C>A
14g.50180629C>GCA389647025SOS2c.912G>C (p.Glu304Asp)
c.26G>C
c.732G>C (p.Glu244Asp)
c.873G>C (p.Glu291Asp)
n.954-3158C>G
14g.50180629C>TCA486169547SOS2c.912G>A (p.Glu304=)
c.26G>A
c.732G>A (p.Glu244=)
c.873G>A (p.Glu291=)
n.954-3158C>T
14g.50180630T>ACA389647026SOS2c.911A>T (p.Glu304Val)
c.25A>T
c.731A>T (p.Glu244Val)
c.872A>T (p.Glu291Val)
n.954-3157T>A
14g.50180630T>CCA389647027SOS2c.911A>G (p.Glu304Gly)
c.25A>G
c.731A>G (p.Glu244Gly)
c.872A>G (p.Glu291Gly)
n.954-3157T>C
 dbSNP gnomAD v2 gnomAD v4
14g.50180630T>GCA389647028SOS2c.911A>C (p.Glu304Ala)
c.25A>C
c.731A>C (p.Glu244Ala)
c.872A>C (p.Glu291Ala)
n.954-3157T>G
14g.50180630T=CA2136084646SOS2c.911A= (p.Glu304=)
c.25A=
c.731A= (p.Glu244=)
c.872A= (p.Glu291=)
n.954-3157T=
14g.50180631C>ACA389647029SOS2c.910G>T (p.Glu304Ter)
c.24G>T
c.730G>T (p.Glu244Ter)
c.871G>T (p.Glu291Ter)
n.954-3156C>A
14g.50180631C=CA2136084650SOS2c.910G= (p.Glu304=)
c.24G=
c.730G= (p.Glu244=)
c.871G= (p.Glu291=)
n.954-3156C=
14g.50180631C>GCA389647030SOS2c.910G>C (p.Glu304Gln)
c.24G>C
c.730G>C (p.Glu244Gln)
c.871G>C (p.Glu291Gln)
n.954-3156C>G
 dbSNP gnomAD v4
14g.50180631C>TCA389647031SOS2c.910G>A (p.Glu304Lys)
c.24G>A
c.730G>A (p.Glu244Lys)
c.871G>A (p.Glu291Lys)
n.954-3156C>T
14g.50180632T>ACA486169563SOS2c.909A>T (p.Pro303=)
c.23A>T
c.729A>T (p.Pro243=)
c.870A>T (p.Pro290=)
n.954-3155T>A
14g.50180632T>CCA486169566SOS2c.909A>G (p.Pro303=)
c.23A>G
c.729A>G (p.Pro243=)
c.870A>G (p.Pro290=)
n.954-3155T>C
 gnomAD v4
14g.50180632T>GCA486169568SOS2c.909A>C (p.Pro303=)
c.23A>C
c.729A>C (p.Pro243=)
c.870A>C (p.Pro290=)
n.954-3155T>G
14g.50180633G>ACA260706711SOS2c.908C>T (p.Pro303Leu)
c.22C>T
c.728C>T (p.Pro243Leu)
c.869C>T (p.Pro290Leu)
n.954-3154G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.50180633G>CCA389647032SOS2c.908C>G (p.Pro303Arg)
c.22C>G
c.728C>G (p.Pro243Arg)
c.869C>G (p.Pro290Arg)
n.954-3154G>C
14g.50180633G=CA2136084654SOS2c.908C= (p.Pro303=)
c.22C=
c.728C= (p.Pro243=)
c.869C= (p.Pro290=)
n.954-3154G=
14g.50180633G>TCA389647033SOS2c.908C>A (p.Pro303Gln)
c.22C>A
c.728C>A (p.Pro243Gln)
c.869C>A (p.Pro290Gln)
n.954-3154G>T
 dbSNP gnomAD v2 gnomAD v4
14g.50180634G>ACA389647034SOS2c.907C>T (p.Pro303Ser)
c.21C>T
c.727C>T (p.Pro243Ser)
c.868C>T (p.Pro290Ser)
n.954-3153G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.50180634G>CCA389647035SOS2c.907C>G (p.Pro303Ala)
c.21C>G
c.727C>G (p.Pro243Ala)
c.868C>G (p.Pro290Ala)
n.954-3153G>C
14g.50180634G=CA2136084658SOS2c.907C= (p.Pro303=)
c.21C=
c.727C= (p.Pro243=)
c.868C= (p.Pro290=)
n.954-3153G=
14g.50180634G>TCA389647036SOS2c.907C>A (p.Pro303Thr)
c.21C>A
c.727C>A (p.Pro243Thr)
c.868C>A (p.Pro290Thr)
n.954-3153G>T
14g.50180635T>ACA486169575SOS2c.906A>T (p.Ser302=)
c.20A>T
c.726A>T (p.Ser242=)
c.867A>T (p.Ser289=)
n.954-3152T>A
14g.50180635T>CCA486169579SOS2c.906A>G (p.Ser302=)
c.20A>G
c.726A>G (p.Ser242=)
c.867A>G (p.Ser289=)
n.954-3152T>C
14g.50180635T>GCA486169576SOS2c.906A>C (p.Ser302=)
c.20A>C
c.726A>C (p.Ser242=)
c.867A>C (p.Ser289=)
n.954-3152T>G
14g.50180636G>ACA389647038SOS2c.905C>T (p.Ser302Leu)
c.19C>T
c.725C>T (p.Ser242Leu)
c.866C>T (p.Ser289Leu)
n.954-3151G>A
 COSMIC COSMIC
14g.50180636G>CCA389647039SOS2c.905C>G (p.Ser302Ter)
c.19C>G
c.725C>G (p.Ser242Ter)
c.866C>G (p.Ser289Ter)
n.954-3151G>C
14g.50180636G>TCA389647037SOS2c.905C>A (p.Ser302Ter)
c.19C>A
c.725C>A (p.Ser242Ter)
c.866C>A (p.Ser289Ter)
n.954-3151G>T
14g.50180637A>CCA389647040SOS2c.904T>G (p.Ser302Ala)
c.18T>G
c.724T>G (p.Ser242Ala)
c.865T>G (p.Ser289Ala)
n.954-3150A>C
14g.50180637A>GCA389647041SOS2c.904T>C (p.Ser302Pro)
c.18T>C
c.724T>C (p.Ser242Pro)
c.865T>C (p.Ser289Pro)
n.954-3150A>G
14g.50180637A>TCA389647042SOS2c.904T>A (p.Ser302Thr)
c.18T>A
c.724T>A (p.Ser242Thr)
c.865T>A (p.Ser289Thr)
n.954-3150A>T
14g.50180638A>CCA486169595SOS2c.903T>G (p.Leu301=)
c.17T>G
c.723T>G (p.Leu241=)
c.864T>G (p.Leu288=)
n.954-3149A>C
14g.50180638A>GCA486169597SOS2c.903T>C (p.Leu301=)
c.17T>C
c.723T>C (p.Leu241=)
c.864T>C (p.Leu288=)
n.954-3149A>G
 gnomAD v4
14g.50180638A>TCA486169599SOS2c.903T>A (p.Leu301=)
c.17T>A
c.723T>A (p.Leu241=)
c.864T>A (p.Leu288=)
n.954-3149A>T
14g.50180639A>CCA389647043SOS2c.902T>G (p.Leu301Arg)
c.16T>G
c.722T>G (p.Leu241Arg)
c.863T>G (p.Leu288Arg)
n.954-3148A>C
14g.50180639A>GCA389647044SOS2c.902T>C (p.Leu301Pro)
c.16T>C
c.722T>C (p.Leu241Pro)
c.863T>C (p.Leu288Pro)
n.954-3148A>G
14g.50180639A>TCA389647045SOS2c.902T>A (p.Leu301His)
c.16T>A
c.722T>A (p.Leu241His)
c.863T>A (p.Leu288His)
n.954-3148A>T
 gnomAD v4
14g.50180640G>ACA389647046SOS2c.901C>T (p.Leu301Phe)
c.15C>T
c.721C>T (p.Leu241Phe)
c.862C>T (p.Leu288Phe)
n.954-3147G>A
14g.50180640G>CCA389647048SOS2c.901C>G (p.Leu301Val)
c.15C>G
c.721C>G (p.Leu241Val)
c.862C>G (p.Leu288Val)
n.954-3147G>C
14g.50180640G>TCA389647047SOS2c.901C>A (p.Leu301Ile)
c.15C>A
c.721C>A (p.Leu241Ile)
c.862C>A (p.Leu288Ile)
n.954-3147G>T
14g.50180641A>CCA389647049SOS2c.900T>G (p.Ile300Met)
c.14T>G
c.720T>G (p.Ile240Met)
c.861T>G (p.Ile287Met)
n.954-3146A>C
14g.50180641A>GCA486169612SOS2c.900T>C (p.Ile300=)
c.14T>C
c.720T>C (p.Ile240=)
c.861T>C (p.Ile287=)
n.954-3146A>G
 gnomAD v4
14g.50180641A>TCA486169614SOS2c.900T>A (p.Ile300=)
c.14T>A
c.720T>A (p.Ile240=)
c.861T>A (p.Ile287=)
n.954-3146A>T
14g.50180642A>CCA389647050SOS2c.899T>G (p.Ile300Ser)
c.13T>G
c.719T>G (p.Ile240Ser)
c.860T>G (p.Ile287Ser)
n.954-3145A>C
14g.50180642A>GCA389647051SOS2c.899T>C (p.Ile300Thr)
c.13T>C
c.719T>C (p.Ile240Thr)
c.860T>C (p.Ile287Thr)
n.954-3145A>G
 gnomAD v4
14g.50180642A>TCA389647052SOS2c.899T>A (p.Ile300Asn)
c.13T>A
c.719T>A (p.Ile240Asn)
c.860T>A (p.Ile287Asn)
n.954-3145A>T
14g.50180643T>ACA389647053SOS2c.898A>T (p.Ile300Phe)
c.12A>T
c.718A>T (p.Ile240Phe)
c.859A>T (p.Ile287Phe)
n.954-3144T>A
14g.50180643T>CCA389647055SOS2c.898A>G (p.Ile300Val)
c.12A>G
c.718A>G (p.Ile240Val)
c.859A>G (p.Ile287Val)
n.954-3144T>C
 ClinVar dbSNP gnomAD v2
14g.50180643T>GCA389647054SOS2c.898A>C (p.Ile300Leu)
c.12A>C
c.718A>C (p.Ile240Leu)
c.859A>C (p.Ile287Leu)
n.954-3144T>G
 gnomAD v4
14g.50180643T=CA2136084662SOS2c.898A= (p.Ile300=)
c.12A=
c.718A= (p.Ile240=)
c.859A= (p.Ile287=)
n.954-3144T=
14g.50180644G>ACA486169626SOS2c.897C>T (p.Asp299=)
c.11C>T
c.717C>T (p.Asp239=)
c.858C>T (p.Asp286=)
n.954-3143G>A
14g.50180644G>CCA389647056SOS2c.897C>G (p.Asp299Glu)
c.11C>G
c.717C>G (p.Asp239Glu)
c.858C>G (p.Asp286Glu)
n.954-3143G>C
14g.50180644G>TCA389647057SOS2c.897C>A (p.Asp299Glu)
c.11C>A
c.717C>A (p.Asp239Glu)
c.858C>A (p.Asp286Glu)
n.954-3143G>T
 gnomAD v4
14g.50180645T>ACA389647058SOS2c.896A>T (p.Asp299Val)
c.10A>T
c.716A>T (p.Asp239Val)
c.857A>T (p.Asp286Val)
n.954-3142T>A
14g.50180645T>CCA389647060SOS2c.896A>G (p.Asp299Gly)
c.10A>G
c.716A>G (p.Asp239Gly)
c.857A>G (p.Asp286Gly)
n.954-3142T>C
14g.50180645T>GCA389647059SOS2c.896A>C (p.Asp299Ala)
c.10A>C
c.716A>C (p.Asp239Ala)
c.857A>C (p.Asp286Ala)
n.954-3142T>G
14g.50180646C>ACA389647061SOS2c.895G>T (p.Asp299Tyr)
c.9G>T
c.715G>T (p.Asp239Tyr)
c.856G>T (p.Asp286Tyr)
n.954-3141C>A
14g.50180646C>GCA389647062SOS2c.895G>C (p.Asp299His)
c.9G>C
c.715G>C (p.Asp239His)
c.856G>C (p.Asp286His)
n.954-3141C>G
14g.50180646C>TCA389647063SOS2c.895G>A (p.Asp299Asn)
c.9G>A
c.715G>A (p.Asp239Asn)
c.856G>A (p.Asp286Asn)
n.954-3141C>T
14g.50180647C>ACA389647064SOS2c.894G>T (p.Gln298His)
c.8G>T
c.714G>T (p.Gln238His)
c.855G>T (p.Gln285His)
n.954-3140C>A
 COSMIC COSMIC
14g.50180647C=CA2136084664SOS2c.894G= (p.Gln298=)
c.8G=
c.714G= (p.Gln238=)
c.855G= (p.Gln285=)
n.954-3140C=
14g.50180647C>GCA389647065SOS2c.894G>C (p.Gln298His)
c.8G>C
c.714G>C (p.Gln238His)
c.855G>C (p.Gln285His)
n.954-3140C>G
14g.50180647C>TCA486169640SOS2c.894G>A (p.Gln298=)
c.8G>A
c.714G>A (p.Gln238=)
c.855G>A (p.Gln285=)
n.954-3140C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.50180648T>ACA389647066SOS2c.893A>T (p.Gln298Leu)
c.7A>T
c.713A>T (p.Gln238Leu)
c.854A>T (p.Gln285Leu)
n.954-3139T>A
14g.50180648T>CCA389647067SOS2c.893A>G (p.Gln298Arg)
c.7A>G
c.713A>G (p.Gln238Arg)
c.854A>G (p.Gln285Arg)
n.954-3139T>C
 gnomAD v4 COSMIC COSMIC
14g.50180648T>GCA389647068SOS2c.893A>C (p.Gln298Pro)
c.7A>C
c.713A>C (p.Gln238Pro)
c.854A>C (p.Gln285Pro)
n.954-3139T>G
14g.50180649G>ACA389647069SOS2c.892C>T (p.Gln298Ter)
c.6C>T
c.712C>T (p.Gln238Ter)
c.853C>T (p.Gln285Ter)
n.954-3138G>A
 ClinVar gnomAD v4
14g.50180649G>CCA389647070SOS2c.892C>G (p.Gln298Glu)
c.6C>G
c.712C>G (p.Gln238Glu)
c.853C>G (p.Gln285Glu)
n.954-3138G>C
14g.50180649G=CA2136084666SOS2c.892C= (p.Gln298=)
c.6C=
c.712C= (p.Gln238=)
c.853C= (p.Gln285=)
n.954-3138G=
14g.50180649G>TCA389647071SOS2c.892C>A (p.Gln298Lys)
c.6C>A
c.712C>A (p.Gln238Lys)
c.853C>A (p.Gln285Lys)
n.954-3138G>T
 dbSNP gnomAD v2 gnomAD v4
14g.50180650T>ACA486169647SOS2c.891A>T (p.Ser297=)
c.5A>T
c.711A>T (p.Ser237=)
c.852A>T (p.Ser284=)
n.954-3137T>A
 gnomAD v4
14g.50180650T>CCA486169648SOS2c.891A>G (p.Ser297=)
c.5A>G
c.711A>G (p.Ser237=)
c.852A>G (p.Ser284=)
n.954-3137T>C
 gnomAD v4
14g.50180650T>GCA486169649SOS2c.891A>C (p.Ser297=)
c.5A>C
c.711A>C (p.Ser237=)
c.852A>C (p.Ser284=)
n.954-3137T>G
14g.50180651G>ACA389647074SOS2c.890C>T (p.Ser297Leu)
c.4C>T
c.710C>T (p.Ser237Leu)
c.851C>T (p.Ser284Leu)
n.954-3136G>A
14g.50180651G>CCA389647072SOS2c.890C>G (p.Ser297Ter)
c.4C>G
c.710C>G (p.Ser237Ter)
c.851C>G (p.Ser284Ter)
n.954-3136G>C
 gnomAD v4
14g.50180651G>TCA389647073SOS2c.890C>A (p.Ser297Ter)
c.4C>A
c.710C>A (p.Ser237Ter)
c.851C>A (p.Ser284Ter)
n.954-3136G>T
 gnomAD v4 COSMIC COSMIC
14g.50180652A>CCA389647075SOS2c.889T>G (p.Ser297Ala)
c.3T>G
c.709T>G (p.Ser237Ala)
c.850T>G (p.Ser284Ala)
n.954-3135A>C
14g.50180652A>GCA389647076SOS2c.889T>C (p.Ser297Pro)
c.3T>C
c.709T>C (p.Ser237Pro)
c.850T>C (p.Ser284Pro)
n.954-3135A>G
14g.50180652A>TCA389647077SOS2c.889T>A (p.Ser297Thr)
c.3T>A
c.709T>A (p.Ser237Thr)
c.850T>A (p.Ser284Thr)
n.954-3135A>T
14g.50180653T>ACA389647078SOS2c.888A>T (p.Leu296Phe)
c.2A>T
c.708A>T (p.Leu236Phe)
c.849A>T (p.Leu283Phe)
n.954-3134T>A
14g.50180653T>CCA486169662SOS2c.888A>G (p.Leu296=)
c.2A>G
c.708A>G (p.Leu236=)
c.849A>G (p.Leu283=)
n.954-3134T>C
 gnomAD v4
14g.50180653T>GCA389647079SOS2c.888A>C (p.Leu296Phe)
c.2A>C
c.708A>C (p.Leu236Phe)
c.849A>C (p.Leu283Phe)
n.954-3134T>G
14g.50180654A>CCA389647080SOS2c.887T>G (p.Leu296Ter)
c.1T>G
c.707T>G (p.Leu236Ter)
c.848T>G (p.Leu283Ter)
n.954-3133A>C
14g.50180654A>GCA389647081SOS2c.887T>C (p.Leu296Ser)
c.1T>C
c.707T>C (p.Leu236Ser)
c.848T>C (p.Leu283Ser)
n.954-3133A>G
 gnomAD v4
14g.50180654A>TCA389647082SOS2c.887T>A (p.Leu296Ter)
c.1T>A
c.707T>A (p.Leu236Ter)
c.848T>A (p.Leu283Ter)
n.954-3133A>T
14g.50180655A>CCA389647083SOS2c.886T>G (p.Leu296Val)
c.706T>G (p.Leu236Val)
c.847T>G (p.Leu283Val)
n.954-3132A>C
14g.50180655A>GCA486169665SOS2c.886T>C (p.Leu296=)
c.706T>C (p.Leu236=)
c.847T>C (p.Leu283=)
n.954-3132A>G
14g.50180655A>TCA389647084SOS2c.886T>A (p.Leu296Ile)
c.706T>A (p.Leu236Ile)
c.847T>A (p.Leu283Ile)
n.954-3132A>T
14g.50180656T>ACA486169672SOS2c.885A>T (p.Thr295=)
c.705A>T (p.Thr235=)
c.846A>T (p.Thr282=)
n.954-3131T>A
14g.50180656T>CCA486169674SOS2c.885A>G (p.Thr295=)
c.705A>G (p.Thr235=)
c.846A>G (p.Thr282=)
n.954-3131T>C
14g.50180656T>GCA486169670SOS2c.885A>C (p.Thr295=)
c.705A>C (p.Thr235=)
c.846A>C (p.Thr282=)
n.954-3131T>G
14g.50180657G>ACA389647087SOS2c.884C>T (p.Thr295Ile)
c.704C>T (p.Thr235Ile)
c.845C>T (p.Thr282Ile)
n.954-3130G>A
 gnomAD v4
14g.50180657G>CCA389647086SOS2c.884C>G (p.Thr295Arg)
c.704C>G (p.Thr235Arg)
c.845C>G (p.Thr282Arg)
n.954-3130G>C
14g.50180657G>TCA389647085SOS2c.884C>A (p.Thr295Lys)
c.704C>A (p.Thr235Lys)
c.845C>A (p.Thr282Lys)
n.954-3130G>T
 gnomAD v4
14g.50180658T>ACA389647088SOS2c.883A>T (p.Thr295Ser)
c.703A>T (p.Thr235Ser)
c.844A>T (p.Thr282Ser)
n.954-3129T>A
14g.50180658T>CCA389647089SOS2c.883A>G (p.Thr295Ala)
c.703A>G (p.Thr235Ala)
c.844A>G (p.Thr282Ala)
n.954-3129T>C
14g.50180658T>GCA389647090SOS2c.883A>C (p.Thr295Pro)
c.703A>C (p.Thr235Pro)
c.844A>C (p.Thr282Pro)
n.954-3129T>G
14g.50180659T>ACA389647091SOS2c.882A>T (p.Glu294Asp)
c.702A>T (p.Glu234Asp)
c.843A>T (p.Glu281Asp)
n.954-3128T>A
14g.50180659T>CCA486169688SOS2c.882A>G (p.Glu294=)
c.702A>G (p.Glu234=)
c.843A>G (p.Glu281=)
n.954-3128T>C
 dbSNP gnomAD v4
14g.50180659T>GCA389647092SOS2c.882A>C (p.Glu294Asp)
c.702A>C (p.Glu234Asp)
c.843A>C (p.Glu281Asp)
n.954-3128T>G
14g.50180659T=CA2136084669SOS2c.882A= (p.Glu294=)
c.702A= (p.Glu234=)
c.843A= (p.Glu281=)
n.954-3128T=
14g.50180660T>ACA389647093SOS2c.881A>T (p.Glu294Val)
c.701A>T (p.Glu234Val)
c.842A>T (p.Glu281Val)
n.954-3127T>A
14g.50180660T>CCA389647094SOS2c.881A>G (p.Glu294Gly)
c.701A>G (p.Glu234Gly)
c.842A>G (p.Glu281Gly)
n.954-3127T>C
14g.50180660T>GCA389647095SOS2c.881A>C (p.Glu294Ala)
c.701A>C (p.Glu234Ala)
c.842A>C (p.Glu281Ala)
n.954-3127T>G
14g.50180661C>ACA389647096SOS2c.880G>T (p.Glu294Ter)
c.700G>T (p.Glu234Ter)
c.841G>T (p.Glu281Ter)
n.954-3126C>A
14g.50180661C>GCA389647097SOS2c.880G>C (p.Glu294Gln)
c.700G>C (p.Glu234Gln)
c.841G>C (p.Glu281Gln)
n.954-3126C>G
14g.50180661C>TCA389647098SOS2c.880G>A (p.Glu294Lys)
c.700G>A (p.Glu234Lys)
c.841G>A (p.Glu281Lys)
n.954-3126C>T
14g.50180662A=CA2136084672SOS2c.879T= (p.Tyr293=)
c.699T= (p.Tyr233=)
c.840T= (p.Tyr280=)
n.954-3125A=
14g.50180662A>CCA389647099SOS2c.879T>G (p.Tyr293Ter)
c.699T>G (p.Tyr233Ter)
c.840T>G (p.Tyr280Ter)
n.954-3125A>C
14g.50180662A>GCA486169698SOS2c.879T>C (p.Tyr293=)
c.699T>C (p.Tyr233=)
c.840T>C (p.Tyr280=)
n.954-3125A>G
 dbSNP gnomAD v4
14g.50180662A>TCA389647100SOS2c.879T>A (p.Tyr293Ter)
c.699T>A (p.Tyr233Ter)
c.840T>A (p.Tyr280Ter)
n.954-3125A>T
14g.50180663_50180664delCA2575539815SOS2c.878_879del (p.Tyr293Ter)
c.698_699del (p.Tyr233Ter)
c.839_840del (p.Tyr280Ter)
n.954-3124_954-3123del
14g.50180663T>ACA389647101SOS2c.878A>T (p.Tyr293Phe)
c.698A>T (p.Tyr233Phe)
c.839A>T (p.Tyr280Phe)
n.954-3124T>A
14g.50180663T>CCA7177420SOS2c.878A>G (p.Tyr293Cys)
c.698A>G (p.Tyr233Cys)
c.839A>G (p.Tyr280Cys)
n.954-3124T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50180663T>GCA389647102SOS2c.878A>C (p.Tyr293Ser)
c.698A>C (p.Tyr233Ser)
c.839A>C (p.Tyr280Ser)
n.954-3124T>G
14g.50180663T=CA2136084676SOS2c.878A= (p.Tyr293=)
c.698A= (p.Tyr233=)
c.839A= (p.Tyr280=)
n.954-3124T=
14g.50180664A>CCA389647103SOS2c.877T>G (p.Tyr293Asp)
c.697T>G (p.Tyr233Asp)
c.838T>G (p.Tyr280Asp)
n.954-3123A>C
14g.50180664A>GCA389647104SOS2c.877T>C (p.Tyr293His)
c.697T>C (p.Tyr233His)
c.838T>C (p.Tyr280His)
n.954-3123A>G
 gnomAD v4
14g.50180664A>TCA389647105SOS2c.877T>A (p.Tyr293Asn)
c.697T>A (p.Tyr233Asn)
c.838T>A (p.Tyr280Asn)
n.954-3123A>T
14g.50180665A>CCA486169704SOS2c.876T>G (p.Pro292=)
c.696T>G (p.Pro232=)
c.837T>G (p.Pro279=)
n.954-3122A>C
14g.50180665A>GCA486169706SOS2c.876T>C (p.Pro292=)
c.696T>C (p.Pro232=)
c.837T>C (p.Pro279=)
n.954-3122A>G
 gnomAD v4
14g.50180665A>TCA486169708SOS2c.876T>A (p.Pro292=)
c.696T>A (p.Pro232=)
c.837T>A (p.Pro279=)
n.954-3122A>T
14g.50180666G>ACA389647106SOS2c.875C>T (p.Pro292Leu)
c.695C>T (p.Pro232Leu)
c.836C>T (p.Pro279Leu)
n.954-3121G>A
14g.50180666G>CCA389647107SOS2c.875C>G (p.Pro292Arg)
c.695C>G (p.Pro232Arg)
c.836C>G (p.Pro279Arg)
n.954-3121G>C
14g.50180666G>TCA389647108SOS2c.875C>A (p.Pro292His)
c.695C>A (p.Pro232His)
c.836C>A (p.Pro279His)
n.954-3121G>T
 gnomAD v4
14g.50180667G>ACA389647109SOS2c.874C>T (p.Pro292Ser)
c.694C>T (p.Pro232Ser)
c.835C>T (p.Pro279Ser)
n.954-3120G>A
 ClinVar
14g.50180667G>CCA389647110SOS2c.874C>G (p.Pro292Ala)
c.694C>G (p.Pro232Ala)
c.835C>G (p.Pro279Ala)
n.954-3120G>C
14g.50180667G>TCA389647111SOS2c.874C>A (p.Pro292Thr)
c.694C>A (p.Pro232Thr)
c.835C>A (p.Pro279Thr)
n.954-3120G>T
 gnomAD v4
14g.50180668A>CCA389647112SOS2c.873T>G (p.Asp291Glu)
c.693T>G (p.Asp231Glu)
c.834T>G (p.Asp278Glu)
n.954-3119A>C
14g.50180668A>GCA486169725SOS2c.873T>C (p.Asp291=)
c.693T>C (p.Asp231=)
c.834T>C (p.Asp278=)
n.954-3119A>G
14g.50180668A>TCA389647113SOS2c.873T>A (p.Asp291Glu)
c.693T>A (p.Asp231Glu)
c.834T>A (p.Asp278Glu)
n.954-3119A>T
14g.50180669T>ACA389647115SOS2c.872A>T (p.Asp291Val)
c.692A>T (p.Asp231Val)
c.833A>T (p.Asp278Val)
n.954-3118T>A
14g.50180669T>CCA389647116SOS2c.872A>G (p.Asp291Gly)
c.692A>G (p.Asp231Gly)
c.833A>G (p.Asp278Gly)
n.954-3118T>C
14g.50180669T>GCA389647114SOS2c.872A>C (p.Asp291Ala)
c.692A>C (p.Asp231Ala)
c.833A>C (p.Asp278Ala)
n.954-3118T>G
 gnomAD v4
14g.50180670C>ACA389647119SOS2c.871G>T (p.Asp291Tyr)
c.691G>T (p.Asp231Tyr)
c.832G>T (p.Asp278Tyr)
n.954-3117C>A
14g.50180670C>GCA389647117SOS2c.871G>C (p.Asp291His)
c.691G>C (p.Asp231His)
c.832G>C (p.Asp278His)
n.954-3117C>G
 COSMIC COSMIC
14g.50180670C>TCA389647118SOS2c.871G>A (p.Asp291Asn)
c.691G>A (p.Asp231Asn)
c.832G>A (p.Asp278Asn)
n.954-3117C>T
14g.50180671A>CCA389647120SOS2c.870T>G (p.Phe290Leu)
c.690T>G (p.Phe230Leu)
c.831T>G (p.Phe277Leu)
n.954-3116A>C
14g.50180671A>GCA486169738SOS2c.870T>C (p.Phe290=)
c.690T>C (p.Phe230=)
c.831T>C (p.Phe277=)
n.954-3116A>G
 gnomAD v4
14g.50180671A>TCA389647121SOS2c.870T>A (p.Phe290Leu)
c.690T>A (p.Phe230Leu)
c.831T>A (p.Phe277Leu)
n.954-3116A>T
14g.50180672A>CCA389647122SOS2c.869T>G (p.Phe290Cys)
c.689T>G (p.Phe230Cys)
c.830T>G (p.Phe277Cys)
n.954-3115A>C
14g.50180672A>GCA389647123SOS2c.869T>C (p.Phe290Ser)
c.689T>C (p.Phe230Ser)
c.830T>C (p.Phe277Ser)
n.954-3115A>G
14g.50180672A>TCA389647124SOS2c.869T>A (p.Phe290Tyr)
c.689T>A (p.Phe230Tyr)
c.830T>A (p.Phe277Tyr)
n.954-3115A>T
 gnomAD v4
14g.50180672_50180673insGCATTTGATCCTTCA2624772439SOS2c.868_869insAAGGATCAAATGC (p.Phe290Ter)
c.688_689insAAGGATCAAATGC (p.Phe230Ter)
c.829_830insAAGGATCAAATGC (p.Phe277Ter)
n.954-3115_954-3114insGCATTTGATCCTT
 gnomAD v4
14g.50180673A>CCA389647125SOS2c.868T>G (p.Phe290Val)
c.688T>G (p.Phe230Val)
c.829T>G (p.Phe277Val)
n.954-3114A>C
14g.50180673A>GCA389647126SOS2c.868T>C (p.Phe290Leu)
c.688T>C (p.Phe230Leu)
c.829T>C (p.Phe277Leu)
n.954-3114A>G
 ClinVar
14g.50180673A>TCA389647127SOS2c.868T>A (p.Phe290Ile)
c.688T>A (p.Phe230Ile)
c.829T>A (p.Phe277Ile)
n.954-3114A>T
14g.50180674T>ACA486169747SOS2c.867A>T (p.Ala289=)
c.687A>T (p.Ala229=)
c.828A>T (p.Ala276=)
n.954-3113T>A
14g.50180674T>CCA486169750SOS2c.867A>G (p.Ala289=)
c.687A>G (p.Ala229=)
c.828A>G (p.Ala276=)
n.954-3113T>C
 dbSNP gnomAD v3 gnomAD v4
14g.50180674T>GCA486169751SOS2c.867A>C (p.Ala289=)
c.687A>C (p.Ala229=)
c.828A>C (p.Ala276=)
n.954-3113T>G
14g.50180674T=CA2136084678SOS2c.867A= (p.Ala289=)
c.687A= (p.Ala229=)
c.828A= (p.Ala276=)
n.954-3113T=
14g.50180675G>ACA389647128SOS2c.866C>T (p.Ala289Val)
c.686C>T (p.Ala229Val)
c.827C>T (p.Ala276Val)
n.954-3112G>A
 ClinVar gnomAD v4
14g.50180675G>CCA389647129SOS2c.866C>G (p.Ala289Gly)
c.686C>G (p.Ala229Gly)
c.827C>G (p.Ala276Gly)
n.954-3112G>C
14g.50180675G>TCA389647130SOS2c.866C>A (p.Ala289Glu)
c.686C>A (p.Ala229Glu)
c.827C>A (p.Ala276Glu)
n.954-3112G>T
 gnomAD v4
14g.50180676C>ACA389647133SOS2c.865G>T (p.Ala289Ser)
c.685G>T (p.Ala229Ser)
c.826G>T (p.Ala276Ser)
n.954-3111C>A
14g.50180676C>GCA389647131SOS2c.865G>C (p.Ala289Pro)
c.685G>C (p.Ala229Pro)
c.826G>C (p.Ala276Pro)
n.954-3111C>G
14g.50180676C>TCA389647132SOS2c.865G>A (p.Ala289Thr)
c.685G>A (p.Ala229Thr)
c.826G>A (p.Ala276Thr)
n.954-3111C>T
 gnomAD v4
14g.50180677T>ACA389647134SOS2c.864A>T (p.Gln288His)
c.684A>T (p.Gln228His)
c.825A>T (p.Gln275His)
n.954-3110T>A
14g.50180677T>CCA7177421SOS2c.864A>G (p.Gln288=)
c.684A>G (p.Gln228=)
c.825A>G (p.Gln275=)
n.954-3110T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50180677T>GCA389647135SOS2c.864A>C (p.Gln288His)
c.684A>C (p.Gln228His)
c.825A>C (p.Gln275His)
n.954-3110T>G
14g.50180677T=CA2136084680SOS2c.864A= (p.Gln288=)
c.684A= (p.Gln228=)
c.825A= (p.Gln275=)
n.954-3110T=
14g.50180678T>ACA389647136SOS2c.863A>T (p.Gln288Leu)
c.683A>T (p.Gln228Leu)
c.824A>T (p.Gln275Leu)
n.954-3109T>A
14g.50180678T>CCA389647137SOS2c.863A>G (p.Gln288Arg)
c.683A>G (p.Gln228Arg)
c.824A>G (p.Gln275Arg)
n.954-3109T>C
 COSMIC COSMIC
14g.50180678T>GCA389647138SOS2c.863A>C (p.Gln288Pro)
c.683A>C (p.Gln228Pro)
c.824A>C (p.Gln275Pro)
n.954-3109T>G
14g.50180679delCA2624772457SOS2c.862del (p.Gln288LysfsTer25)
c.682del (p.Gln228LysfsTer25)
c.823del (p.Gln275LysfsTer25)
n.954-3108del
 gnomAD v4
14g.50180679G>ACA389647139SOS2c.862C>T (p.Gln288Ter)
c.682C>T (p.Gln228Ter)
c.823C>T (p.Gln275Ter)
n.954-3108G>A
 gnomAD v4
14g.50180679G>CCA389647140SOS2c.862C>G (p.Gln288Glu)
c.682C>G (p.Gln228Glu)
c.823C>G (p.Gln275Glu)
n.954-3108G>C
14g.50180679G>TCA389647141SOS2c.862C>A (p.Gln288Lys)
c.682C>A (p.Gln228Lys)
c.823C>A (p.Gln275Lys)
n.954-3108G>T
 gnomAD v4
14g.50180679_50180682delinsGCTCCA2136084684SOS2c.859_862delinsGAGC (p.Glu287=)
c.679_682delinsGAGC (p.Glu227=)
c.820_823delinsGAGC (p.Glu274=)
n.954-3108_954-3105delinsGCTC
14g.50180680C>ACA389647142SOS2c.861G>T (p.Glu287Asp)
c.681G>T (p.Glu227Asp)
c.822G>T (p.Glu274Asp)
n.954-3107C>A
14g.50180680C>GCA389647143SOS2c.861G>C (p.Glu287Asp)
c.681G>C (p.Glu227Asp)
c.822G>C (p.Glu274Asp)
n.954-3107C>G
14g.50180680C>TCA486169774SOS2c.861G>A (p.Glu287=)
c.681G>A (p.Glu227=)
c.822G>A (p.Glu274=)
n.954-3107C>T
 gnomAD v4
14g.50180682_50180684delCA7177422SOS2c.859_861del
c.679_681del
c.820_822del
n.954-3105_954-3103del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50180681T>ACA389647146SOS2c.860A>T (p.Glu287Val)
c.680A>T (p.Glu227Val)
c.821A>T (p.Glu274Val)
n.954-3106T>A
14g.50180681T>CCA389647145SOS2c.860A>G (p.Glu287Gly)
c.680A>G (p.Glu227Gly)
c.821A>G (p.Glu274Gly)
n.954-3106T>C
 gnomAD v4
14g.50180681T>GCA389647144SOS2c.860A>C (p.Glu287Ala)
c.680A>C (p.Glu227Ala)
c.821A>C (p.Glu274Ala)
n.954-3106T>G
14g.50180682C>ACA389647147SOS2c.859G>T (p.Glu287Ter)
c.679G>T (p.Glu227Ter)
c.820G>T (p.Glu274Ter)
n.954-3105C>A
14g.50180682C>GCA389647148SOS2c.859G>C (p.Glu287Gln)
c.679G>C (p.Glu227Gln)
c.820G>C (p.Glu274Gln)
n.954-3105C>G
14g.50180682C>TCA389647149SOS2c.859G>A (p.Glu287Lys)
c.679G>A (p.Glu227Lys)
c.820G>A (p.Glu274Lys)
n.954-3105C>T
14g.50180683C>ACA389647150SOS2c.859-1G>T (n.859-1G>T)
c.679-1G>T (n.679-1G>T)
c.820-1G>T (n.820-1G>T)
n.954-3104C>A
 gnomAD v4
14g.50180683C>GCA389647151SOS2c.859-1G>C (n.859-1G>C)
c.679-1G>C (n.679-1G>C)
c.820-1G>C (n.820-1G>C)
n.954-3104C>G
14g.50180683C>TCA389647152SOS2c.859-1G>A (n.859-1G>A)
c.679-1G>A (n.679-1G>A)
c.820-1G>A (n.820-1G>A)
n.954-3104C>T
 gnomAD v4
14g.50180684T>ACA389647153SOS2c.859-2A>T (n.859-2A>T)
c.679-2A>T (n.679-2A>T)
c.820-2A>T (n.820-2A>T)
n.954-3103T>A
14g.50180684T>CCA389647154SOS2c.859-2A>G (n.859-2A>G)
c.679-2A>G (n.679-2A>G)
c.820-2A>G (n.820-2A>G)
n.954-3103T>C
 gnomAD v4
14g.50180684T>GCA389647155SOS2c.859-2A>C (n.859-2A>C)
c.679-2A>C (n.679-2A>C)
c.820-2A>C (n.820-2A>C)
n.954-3103T>G
14g.50180685A=CA2136084690SOS2c.859-3T= (n.859-3T=)
c.679-3T= (n.679-3T=)
c.820-3T= (n.820-3T=)
n.954-3102A=
14g.50180685A>GCA2136084691SOS2c.859-3T>C (n.859-3T>C)
c.679-3T>C (n.679-3T>C)
c.820-3T>C (n.820-3T>C)
n.954-3102A>G
 dbSNP gnomAD v4
14g.50180685_50180686delinsATCA2136084688SOS2c.859-4_859-3delinsAT (n.859-4_859-3delinsAT)
c.679-4_679-3delinsAT (n.679-4_679-3delinsAT)
c.820-4_820-3delinsAT (n.820-4_820-3delinsAT)
n.954-3102_954-3101delinsAT
14g.50180692dupCA2516422805SOS2c.859-4dup (n.859-4dup)
c.679-4dup (n.679-4dup)
c.820-4dup (n.820-4dup)
n.954-3095dup
 gnomAD v4
14g.50180692delCA7177423SOS2c.859-4del (n.859-4del)
c.679-4del (n.679-4del)
c.820-4del (n.820-4del)
n.954-3095del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50180691_50180692delCA2624772472SOS2c.859-5_859-4del (n.859-5_859-4del)
c.679-5_679-4del (n.679-5_679-4del)
c.820-5_820-4del (n.820-5_820-4del)
n.954-3096_954-3095del
 gnomAD v4
14g.50180687T>ACA2575539817SOS2c.859-5A>T (n.859-5A>T)
c.679-5A>T (n.679-5A>T)
c.820-5A>T (n.820-5A>T)
n.954-3100T>A
 gnomAD v4
14g.50180687T>CCA2624772474SOS2c.859-5A>G (n.859-5A>G)
c.679-5A>G (n.679-5A>G)
c.820-5A>G (n.820-5A>G)
n.954-3100T>C
 gnomAD v4
14g.50180688T>CCA2624772477SOS2c.859-6A>G (n.859-6A>G)
c.679-6A>G (n.679-6A>G)
c.820-6A>G (n.820-6A>G)
n.954-3099T>C
 gnomAD v4

Number of alleles fetched