Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.101412982_101412984delinsAGT | CA1274778593 | RFX8 | c.988_990delinsACT (p.Thr330=) c.649_651delinsACT (p.Thr217=) c.862_864delinsACT (p.Thr288=) c.775_777delinsACT (p.Thr259=) c.*365_*367delinsACT (n.*365_*367delinsACT) c.877_879delinsACT (p.Thr293=) c.559_561delinsACT (p.Thr187=) c.361_363delinsACT (p.Thr121=) c.*62_*64delinsACT (n.*62_*64delinsACT) n.932_934delinsACT c.136_138delinsACT (p.Thr46=) | |
2 | g.101412983_101412984del | CA535107060 | RFX8 | c.988_989del (p.Thr330PhefsTer2) c.649_650del (p.Thr217PhefsTer2) c.862_863del (p.Thr288PhefsTer2) c.775_776del (p.Thr259PhefsTer2) c.*365_*366del (n.*365_*366del) c.877_878del (p.Thr293PhefsTer2) c.559_560del (p.Thr187PhefsTer2) c.361_362del (p.Thr121PhefsTer2) c.*62_*63del (n.*62_*63del) n.932_933del c.136_137del (p.Thr46PhefsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412984T>A | CA347974406 | RFX8 | c.988A>T (p.Thr330Ser) c.649A>T (p.Thr217Ser) c.862A>T (p.Thr288Ser) c.775A>T (p.Thr259Ser) c.*365A>T (n.*365A>T) c.877A>T (p.Thr293Ser) c.559A>T (p.Thr187Ser) c.361A>T (p.Thr121Ser) c.*62A>T (n.*62A>T) n.932A>T c.136A>T (p.Thr46Ser) | gnomAD v4 |
2 | g.101412984T>C | CA347974408 | RFX8 | c.988A>G (p.Thr330Ala) c.649A>G (p.Thr217Ala) c.862A>G (p.Thr288Ala) c.775A>G (p.Thr259Ala) c.*365A>G (n.*365A>G) c.877A>G (p.Thr293Ala) c.559A>G (p.Thr187Ala) c.361A>G (p.Thr121Ala) c.*62A>G (n.*62A>G) n.932A>G c.136A>G (p.Thr46Ala) | gnomAD v4 |
2 | g.101412984T>G | CA347974407 | RFX8 | c.988A>C (p.Thr330Pro) c.649A>C (p.Thr217Pro) c.862A>C (p.Thr288Pro) c.775A>C (p.Thr259Pro) c.*365A>C (n.*365A>C) c.877A>C (p.Thr293Pro) c.559A>C (p.Thr187Pro) c.361A>C (p.Thr121Pro) c.*62A>C (n.*62A>C) n.932A>C c.136A>C (p.Thr46Pro) | gnomAD v4 |
2 | g.101412985A= | CA1274778594 | RFX8 | c.987T= (p.Ala329=) c.648T= (p.Ala216=) c.861T= (p.Ala287=) c.774T= (p.Ala258=) c.*364T= (n.*364T=) c.876T= (p.Ala292=) c.558T= (p.Ala186=) c.360T= (p.Ala120=) c.*61T= (n.*61T=) n.931T= c.135T= (p.Ala45=) | |
2 | g.101412985A>C | CA427793341 | RFX8 | c.987T>G (p.Ala329=) c.648T>G (p.Ala216=) c.861T>G (p.Ala287=) c.774T>G (p.Ala258=) c.*364T>G (n.*364T>G) c.876T>G (p.Ala292=) c.558T>G (p.Ala186=) c.360T>G (p.Ala120=) c.*61T>G (n.*61T>G) n.931T>G c.135T>G (p.Ala45=) | |
2 | g.101412985A>G | CA427793344 | RFX8 | c.987T>C (p.Ala329=) c.648T>C (p.Ala216=) c.861T>C (p.Ala287=) c.774T>C (p.Ala258=) c.*364T>C (n.*364T>C) c.876T>C (p.Ala292=) c.558T>C (p.Ala186=) c.360T>C (p.Ala120=) c.*61T>C (n.*61T>C) n.931T>C c.135T>C (p.Ala45=) | dbSNP |
2 | g.101412985A>T | CA427793348 | RFX8 | c.987T>A (p.Ala329=) c.648T>A (p.Ala216=) c.861T>A (p.Ala287=) c.774T>A (p.Ala258=) c.*364T>A (n.*364T>A) c.876T>A (p.Ala292=) c.558T>A (p.Ala186=) c.360T>A (p.Ala120=) c.*61T>A (n.*61T>A) n.931T>A c.135T>A (p.Ala45=) | |
2 | g.101412986G>A | CA1806430 | RFX8 | c.986C>T (p.Ala329Val) c.647C>T (p.Ala216Val) c.860C>T (p.Ala287Val) c.773C>T (p.Ala258Val) c.*363C>T (n.*363C>T) c.875C>T (p.Ala292Val) c.557C>T (p.Ala186Val) c.359C>T (p.Ala120Val) c.*60C>T (n.*60C>T) n.930C>T c.134C>T (p.Ala45Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412986G>C | CA347974410 | RFX8 | c.986C>G (p.Ala329Gly) c.647C>G (p.Ala216Gly) c.860C>G (p.Ala287Gly) c.773C>G (p.Ala258Gly) c.*363C>G (n.*363C>G) c.875C>G (p.Ala292Gly) c.557C>G (p.Ala186Gly) c.359C>G (p.Ala120Gly) c.*60C>G (n.*60C>G) n.930C>G c.134C>G (p.Ala45Gly) | |
2 | g.101412986G= | CA1274778595 | RFX8 | c.986C= (p.Ala329=) c.647C= (p.Ala216=) c.860C= (p.Ala287=) c.773C= (p.Ala258=) c.*363C= (n.*363C=) c.875C= (p.Ala292=) c.557C= (p.Ala186=) c.359C= (p.Ala120=) c.*60C= (n.*60C=) n.930C= c.134C= (p.Ala45=) | |
2 | g.101412986G>T | CA347974409 | RFX8 | c.986C>A (p.Ala329Asp) c.647C>A (p.Ala216Asp) c.860C>A (p.Ala287Asp) c.773C>A (p.Ala258Asp) c.*363C>A (n.*363C>A) c.875C>A (p.Ala292Asp) c.557C>A (p.Ala186Asp) c.359C>A (p.Ala120Asp) c.*60C>A (n.*60C>A) n.930C>A c.134C>A (p.Ala45Asp) | |
2 | g.101412987C>A | CA347974411 | RFX8 | c.985G>T (p.Ala329Ser) c.646G>T (p.Ala216Ser) c.859G>T (p.Ala287Ser) c.772G>T (p.Ala258Ser) c.*362G>T (n.*362G>T) c.874G>T (p.Ala292Ser) c.556G>T (p.Ala186Ser) c.358G>T (p.Ala120Ser) c.*59G>T (n.*59G>T) n.929G>T c.133G>T (p.Ala45Ser) | |
2 | g.101412987C>G | CA347974413 | RFX8 | c.985G>C (p.Ala329Pro) c.646G>C (p.Ala216Pro) c.859G>C (p.Ala287Pro) c.772G>C (p.Ala258Pro) c.*362G>C (n.*362G>C) c.874G>C (p.Ala292Pro) c.556G>C (p.Ala186Pro) c.358G>C (p.Ala120Pro) c.*59G>C (n.*59G>C) n.929G>C c.133G>C (p.Ala45Pro) | |
2 | g.101412987C>T | CA347974412 | RFX8 | c.985G>A (p.Ala329Thr) c.646G>A (p.Ala216Thr) c.859G>A (p.Ala287Thr) c.772G>A (p.Ala258Thr) c.*362G>A (n.*362G>A) c.874G>A (p.Ala292Thr) c.556G>A (p.Ala186Thr) c.358G>A (p.Ala120Thr) c.*59G>A (n.*59G>A) n.929G>A c.133G>A (p.Ala45Thr) | |
2 | g.101412988C>A | CA347974414 | RFX8 | c.984G>T (p.Leu328Phe) c.645G>T (p.Leu215Phe) c.858G>T (p.Leu286Phe) c.771G>T (p.Leu257Phe) c.*361G>T (n.*361G>T) c.873G>T (p.Leu291Phe) c.555G>T (p.Leu185Phe) c.357G>T (p.Leu119Phe) c.*58G>T (n.*58G>T) n.928G>T c.132G>T (p.Leu44Phe) | |
2 | g.101412988C>G | CA347974415 | RFX8 | c.984G>C (p.Leu328Phe) c.645G>C (p.Leu215Phe) c.858G>C (p.Leu286Phe) c.771G>C (p.Leu257Phe) c.*361G>C (n.*361G>C) c.873G>C (p.Leu291Phe) c.555G>C (p.Leu185Phe) c.357G>C (p.Leu119Phe) c.*58G>C (n.*58G>C) n.928G>C c.132G>C (p.Leu44Phe) | |
2 | g.101412988C>T | CA427793371 | RFX8 | c.984G>A (p.Leu328=) c.645G>A (p.Leu215=) c.858G>A (p.Leu286=) c.771G>A (p.Leu257=) c.*361G>A (n.*361G>A) c.873G>A (p.Leu291=) c.555G>A (p.Leu185=) c.357G>A (p.Leu119=) c.*58G>A (n.*58G>A) n.928G>A c.132G>A (p.Leu44=) | |
2 | g.101412989A= | CA1274778596 | RFX8 | c.983T= (p.Leu328=) c.644T= (p.Leu215=) c.857T= (p.Leu286=) c.770T= (p.Leu257=) c.*360T= (n.*360T=) c.872T= (p.Leu291=) c.554T= (p.Leu185=) c.356T= (p.Leu119=) c.*57T= (n.*57T=) n.927T= c.131T= (p.Leu44=) | |
2 | g.101412989A>C | CA347974416 | RFX8 | c.983T>G (p.Leu328Trp) c.644T>G (p.Leu215Trp) c.857T>G (p.Leu286Trp) c.770T>G (p.Leu257Trp) c.*360T>G (n.*360T>G) c.872T>G (p.Leu291Trp) c.554T>G (p.Leu185Trp) c.356T>G (p.Leu119Trp) c.*57T>G (n.*57T>G) n.927T>G c.131T>G (p.Leu44Trp) | |
2 | g.101412989A>G | CA347974417 | RFX8 | c.983T>C (p.Leu328Ser) c.644T>C (p.Leu215Ser) c.857T>C (p.Leu286Ser) c.770T>C (p.Leu257Ser) c.*360T>C (n.*360T>C) c.872T>C (p.Leu291Ser) c.554T>C (p.Leu185Ser) c.356T>C (p.Leu119Ser) c.*57T>C (n.*57T>C) n.927T>C c.131T>C (p.Leu44Ser) | dbSNP gnomAD v4 |
2 | g.101412989A>T | CA347974418 | RFX8 | c.983T>A (p.Leu328Ter) c.644T>A (p.Leu215Ter) c.857T>A (p.Leu286Ter) c.770T>A (p.Leu257Ter) c.*360T>A (n.*360T>A) c.872T>A (p.Leu291Ter) c.554T>A (p.Leu185Ter) c.356T>A (p.Leu119Ter) c.*57T>A (n.*57T>A) n.927T>A c.131T>A (p.Leu44Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412990A>C | CA347974419 | RFX8 | c.982T>G (p.Leu328Val) c.643T>G (p.Leu215Val) c.856T>G (p.Leu286Val) c.769T>G (p.Leu257Val) c.*359T>G (n.*359T>G) c.871T>G (p.Leu291Val) c.553T>G (p.Leu185Val) c.355T>G (p.Leu119Val) c.*56T>G (n.*56T>G) n.926T>G c.130T>G (p.Leu44Val) | |
2 | g.101412990A>G | CA427793383 | RFX8 | c.982T>C (p.Leu328=) c.643T>C (p.Leu215=) c.856T>C (p.Leu286=) c.769T>C (p.Leu257=) c.*359T>C (n.*359T>C) c.871T>C (p.Leu291=) c.553T>C (p.Leu185=) c.355T>C (p.Leu119=) c.*56T>C (n.*56T>C) n.926T>C c.130T>C (p.Leu44=) | |
2 | g.101412990A>T | CA347974420 | RFX8 | c.982T>A (p.Leu328Met) c.643T>A (p.Leu215Met) c.856T>A (p.Leu286Met) c.769T>A (p.Leu257Met) c.*359T>A (n.*359T>A) c.871T>A (p.Leu291Met) c.553T>A (p.Leu185Met) c.355T>A (p.Leu119Met) c.*56T>A (n.*56T>A) n.926T>A c.130T>A (p.Leu44Met) | |
2 | g.101412991A= | CA1274778597 | RFX8 | c.981T= (p.Thr327=) c.642T= (p.Thr214=) c.855T= (p.Thr285=) c.768T= (p.Thr256=) c.*358T= (n.*358T=) c.870T= (p.Thr290=) c.552T= (p.Thr184=) c.354T= (p.Thr118=) c.*55T= (n.*55T=) n.925T= c.129T= (p.Thr43=) | |
2 | g.101412991A>C | CA427793389 | RFX8 | c.981T>G (p.Thr327=) c.642T>G (p.Thr214=) c.855T>G (p.Thr285=) c.768T>G (p.Thr256=) c.*358T>G (n.*358T>G) c.870T>G (p.Thr290=) c.552T>G (p.Thr184=) c.354T>G (p.Thr118=) c.*55T>G (n.*55T>G) n.925T>G c.129T>G (p.Thr43=) | |
2 | g.101412991A>G | CA427793391 | RFX8 | c.981T>C (p.Thr327=) c.642T>C (p.Thr214=) c.855T>C (p.Thr285=) c.768T>C (p.Thr256=) c.*358T>C (n.*358T>C) c.870T>C (p.Thr290=) c.552T>C (p.Thr184=) c.354T>C (p.Thr118=) c.*55T>C (n.*55T>C) n.925T>C c.129T>C (p.Thr43=) | |
2 | g.101412991A>T | CA427793393 | RFX8 | c.981T>A (p.Thr327=) c.642T>A (p.Thr214=) c.855T>A (p.Thr285=) c.768T>A (p.Thr256=) c.*358T>A (n.*358T>A) c.870T>A (p.Thr290=) c.552T>A (p.Thr184=) c.354T>A (p.Thr118=) c.*55T>A (n.*55T>A) n.925T>A c.129T>A (p.Thr43=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412992G>A | CA347974423 | RFX8 | c.980C>T (p.Thr327Ile) c.641C>T (p.Thr214Ile) c.854C>T (p.Thr285Ile) c.767C>T (p.Thr256Ile) c.*357C>T (n.*357C>T) c.869C>T (p.Thr290Ile) c.551C>T (p.Thr184Ile) c.353C>T (p.Thr118Ile) c.*54C>T (n.*54C>T) n.924C>T c.128C>T (p.Thr43Ile) | |
2 | g.101412992G>C | CA347974421 | RFX8 | c.980C>G (p.Thr327Ser) c.641C>G (p.Thr214Ser) c.854C>G (p.Thr285Ser) c.767C>G (p.Thr256Ser) c.*357C>G (n.*357C>G) c.869C>G (p.Thr290Ser) c.551C>G (p.Thr184Ser) c.353C>G (p.Thr118Ser) c.*54C>G (n.*54C>G) n.924C>G c.128C>G (p.Thr43Ser) | dbSNP gnomAD v4 |
2 | g.101412992G= | CA1274778598 | RFX8 | c.980C= (p.Thr327=) c.641C= (p.Thr214=) c.854C= (p.Thr285=) c.767C= (p.Thr256=) c.*357C= (n.*357C=) c.869C= (p.Thr290=) c.551C= (p.Thr184=) c.353C= (p.Thr118=) c.*54C= (n.*54C=) n.924C= c.128C= (p.Thr43=) | |
2 | g.101412992G>T | CA347974422 | RFX8 | c.980C>A (p.Thr327Asn) c.641C>A (p.Thr214Asn) c.854C>A (p.Thr285Asn) c.767C>A (p.Thr256Asn) c.*357C>A (n.*357C>A) c.869C>A (p.Thr290Asn) c.551C>A (p.Thr184Asn) c.353C>A (p.Thr118Asn) c.*54C>A (n.*54C>A) n.924C>A c.128C>A (p.Thr43Asn) | |
2 | g.101412993T>A | CA347974424 | RFX8 | c.979A>T (p.Thr327Ser) c.640A>T (p.Thr214Ser) c.853A>T (p.Thr285Ser) c.766A>T (p.Thr256Ser) c.*356A>T (n.*356A>T) c.868A>T (p.Thr290Ser) c.550A>T (p.Thr184Ser) c.352A>T (p.Thr118Ser) c.*53A>T (n.*53A>T) n.923A>T c.127A>T (p.Thr43Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412993T>C | CA347974425 | RFX8 | c.979A>G (p.Thr327Ala) c.640A>G (p.Thr214Ala) c.853A>G (p.Thr285Ala) c.766A>G (p.Thr256Ala) c.*356A>G (n.*356A>G) c.868A>G (p.Thr290Ala) c.550A>G (p.Thr184Ala) c.352A>G (p.Thr118Ala) c.*53A>G (n.*53A>G) n.923A>G c.127A>G (p.Thr43Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412993T>G | CA347974426 | RFX8 | c.979A>C (p.Thr327Pro) c.640A>C (p.Thr214Pro) c.853A>C (p.Thr285Pro) c.766A>C (p.Thr256Pro) c.*356A>C (n.*356A>C) c.868A>C (p.Thr290Pro) c.550A>C (p.Thr184Pro) c.352A>C (p.Thr118Pro) c.*53A>C (n.*53A>C) n.923A>C c.127A>C (p.Thr43Pro) | |
2 | g.101412993T= | CA1274778599 | RFX8 | c.979A= (p.Thr327=) c.640A= (p.Thr214=) c.853A= (p.Thr285=) c.766A= (p.Thr256=) c.*356A= (n.*356A=) c.868A= (p.Thr290=) c.550A= (p.Thr184=) c.352A= (p.Thr118=) c.*53A= (n.*53A=) n.923A= c.127A= (p.Thr43=) | |
2 | g.101412994G>A | CA427793412 | RFX8 | c.978C>T (p.Gly326=) c.639C>T (p.Gly213=) c.852C>T (p.Gly284=) c.765C>T (p.Gly255=) c.*355C>T (n.*355C>T) c.867C>T (p.Gly289=) c.549C>T (p.Gly183=) c.351C>T (p.Gly117=) c.*52C>T (n.*52C>T) n.922C>T c.126C>T (p.Gly42=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412994G>C | CA427793417 | RFX8 | c.978C>G (p.Gly326=) c.639C>G (p.Gly213=) c.852C>G (p.Gly284=) c.765C>G (p.Gly255=) c.*355C>G (n.*355C>G) c.867C>G (p.Gly289=) c.549C>G (p.Gly183=) c.351C>G (p.Gly117=) c.*52C>G (n.*52C>G) n.922C>G c.126C>G (p.Gly42=) | |
2 | g.101412994G= | CA1274778600 | RFX8 | c.978C= (p.Gly326=) c.639C= (p.Gly213=) c.852C= (p.Gly284=) c.765C= (p.Gly255=) c.*355C= (n.*355C=) c.867C= (p.Gly289=) c.549C= (p.Gly183=) c.351C= (p.Gly117=) c.*52C= (n.*52C=) n.922C= c.126C= (p.Gly42=) | |
2 | g.101412994G>T | CA427793413 | RFX8 | c.978C>A (p.Gly326=) c.639C>A (p.Gly213=) c.852C>A (p.Gly284=) c.765C>A (p.Gly255=) c.*355C>A (n.*355C>A) c.867C>A (p.Gly289=) c.549C>A (p.Gly183=) c.351C>A (p.Gly117=) c.*52C>A (n.*52C>A) n.922C>A c.126C>A (p.Gly42=) | |
2 | g.101412995C>A | CA347974427 | RFX8 | c.977G>T (p.Gly326Val) c.638G>T (p.Gly213Val) c.851G>T (p.Gly284Val) c.764G>T (p.Gly255Val) c.*354G>T (n.*354G>T) c.866G>T (p.Gly289Val) c.548G>T (p.Gly183Val) c.350G>T (p.Gly117Val) c.*51G>T (n.*51G>T) n.921G>T c.125G>T (p.Gly42Val) | |
2 | g.101412995C= | CA1274778601 | RFX8 | c.977G= (p.Gly326=) c.638G= (p.Gly213=) c.851G= (p.Gly284=) c.764G= (p.Gly255=) c.*354G= (n.*354G=) c.866G= (p.Gly289=) c.548G= (p.Gly183=) c.350G= (p.Gly117=) c.*51G= (n.*51G=) n.921G= c.125G= (p.Gly42=) | |
2 | g.101412995C>G | CA347974428 | RFX8 | c.977G>C (p.Gly326Ala) c.638G>C (p.Gly213Ala) c.851G>C (p.Gly284Ala) c.764G>C (p.Gly255Ala) c.*354G>C (n.*354G>C) c.866G>C (p.Gly289Ala) c.548G>C (p.Gly183Ala) c.350G>C (p.Gly117Ala) c.*51G>C (n.*51G>C) n.921G>C c.125G>C (p.Gly42Ala) | ClinVar dbSNP |
2 | g.101412995C>T | CA347974429 | RFX8 | c.977G>A (p.Gly326Asp) c.638G>A (p.Gly213Asp) c.851G>A (p.Gly284Asp) c.764G>A (p.Gly255Asp) c.*354G>A (n.*354G>A) c.866G>A (p.Gly289Asp) c.548G>A (p.Gly183Asp) c.350G>A (p.Gly117Asp) c.*51G>A (n.*51G>A) n.921G>A c.125G>A (p.Gly42Asp) | dbSNP gnomAD v4 |
2 | g.101412996C>A | CA347974430 | RFX8 | c.976G>T (p.Gly326Cys) c.637G>T (p.Gly213Cys) c.850G>T (p.Gly284Cys) c.763G>T (p.Gly255Cys) c.*353G>T (n.*353G>T) c.865G>T (p.Gly289Cys) c.547G>T (p.Gly183Cys) c.349G>T (p.Gly117Cys) c.*50G>T (n.*50G>T) n.920G>T c.124G>T (p.Gly42Cys) | |
2 | g.101412996C>G | CA347974432 | RFX8 | c.976G>C (p.Gly326Arg) c.637G>C (p.Gly213Arg) c.850G>C (p.Gly284Arg) c.763G>C (p.Gly255Arg) c.*353G>C (n.*353G>C) c.865G>C (p.Gly289Arg) c.547G>C (p.Gly183Arg) c.349G>C (p.Gly117Arg) c.*50G>C (n.*50G>C) n.920G>C c.124G>C (p.Gly42Arg) | |
2 | g.101412996C>T | CA347974431 | RFX8 | c.976G>A (p.Gly326Ser) c.637G>A (p.Gly213Ser) c.850G>A (p.Gly284Ser) c.763G>A (p.Gly255Ser) c.*353G>A (n.*353G>A) c.865G>A (p.Gly289Ser) c.547G>A (p.Gly183Ser) c.349G>A (p.Gly117Ser) c.*50G>A (n.*50G>A) n.920G>A c.124G>A (p.Gly42Ser) | gnomAD v4 |
2 | g.101412996_101412998del | CA645513967 | RFX8 | c.974_976del (p.Gln325_Gly326delinsArg) c.635_637del (p.Gln212_Gly213delinsArg) c.848_850del (p.Gln283_Gly284delinsArg) c.761_763del (p.Gln254_Gly255delinsArg) c.*351_*353del (n.*351_*353del) c.863_865del (p.Gln288_Gly289delinsArg) c.545_547del (p.Gln182_Gly183delinsArg) c.347_349del (p.Gln116_Gly117delinsArg) c.*48_*50del (n.*48_*50del) n.918_920del c.122_124del (p.Gln41_Gly42delinsArg) | COSMIC COSMIC |
2 | g.101412997T>A | CA347974433 | RFX8 | c.975A>T (p.Gln325His) c.636A>T (p.Gln212His) c.849A>T (p.Gln283His) c.762A>T (p.Gln254His) c.*352A>T (n.*352A>T) c.864A>T (p.Gln288His) c.546A>T (p.Gln182His) c.348A>T (p.Gln116His) c.*49A>T (n.*49A>T) n.919A>T c.123A>T (p.Gln41His) | |
2 | g.101412997T>C | CA427793432 | RFX8 | c.975A>G (p.Gln325=) c.636A>G (p.Gln212=) c.849A>G (p.Gln283=) c.762A>G (p.Gln254=) c.*352A>G (n.*352A>G) c.864A>G (p.Gln288=) c.546A>G (p.Gln182=) c.348A>G (p.Gln116=) c.*49A>G (n.*49A>G) n.919A>G c.123A>G (p.Gln41=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412997T>G | CA347974434 | RFX8 | c.975A>C (p.Gln325His) c.636A>C (p.Gln212His) c.849A>C (p.Gln283His) c.762A>C (p.Gln254His) c.*352A>C (n.*352A>C) c.864A>C (p.Gln288His) c.546A>C (p.Gln182His) c.348A>C (p.Gln116His) c.*49A>C (n.*49A>C) n.919A>C c.123A>C (p.Gln41His) | |
2 | g.101412997T= | CA1274778602 | RFX8 | c.975A= (p.Gln325=) c.636A= (p.Gln212=) c.849A= (p.Gln283=) c.762A= (p.Gln254=) c.*352A= (n.*352A=) c.864A= (p.Gln288=) c.546A= (p.Gln182=) c.348A= (p.Gln116=) c.*49A= (n.*49A=) n.919A= c.123A= (p.Gln41=) | |
2 | g.101412998T>A | CA1806431 | RFX8 | c.974A>T (p.Gln325Leu) c.635A>T (p.Gln212Leu) c.848A>T (p.Gln283Leu) c.761A>T (p.Gln254Leu) c.*351A>T (n.*351A>T) c.863A>T (p.Gln288Leu) c.545A>T (p.Gln182Leu) c.347A>T (p.Gln116Leu) c.*48A>T (n.*48A>T) n.918A>T c.122A>T (p.Gln41Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412998T>C | CA347974435 | RFX8 | c.974A>G (p.Gln325Arg) c.635A>G (p.Gln212Arg) c.848A>G (p.Gln283Arg) c.761A>G (p.Gln254Arg) c.*351A>G (n.*351A>G) c.863A>G (p.Gln288Arg) c.545A>G (p.Gln182Arg) c.347A>G (p.Gln116Arg) c.*48A>G (n.*48A>G) n.918A>G c.122A>G (p.Gln41Arg) | |
2 | g.101412998T>G | CA347974436 | RFX8 | c.974A>C (p.Gln325Pro) c.635A>C (p.Gln212Pro) c.848A>C (p.Gln283Pro) c.761A>C (p.Gln254Pro) c.*351A>C (n.*351A>C) c.863A>C (p.Gln288Pro) c.545A>C (p.Gln182Pro) c.347A>C (p.Gln116Pro) c.*48A>C (n.*48A>C) n.918A>C c.122A>C (p.Gln41Pro) | dbSNP |
2 | g.101412998T= | CA1274778603 | RFX8 | c.974A= (p.Gln325=) c.635A= (p.Gln212=) c.848A= (p.Gln283=) c.761A= (p.Gln254=) c.*351A= (n.*351A=) c.863A= (p.Gln288=) c.545A= (p.Gln182=) c.347A= (p.Gln116=) c.*48A= (n.*48A=) n.918A= c.122A= (p.Gln41=) | |
2 | g.101412998_101412999delinsTG | CA1274778604 | RFX8 | c.973_974delinsCA (p.Gln325=) c.634_635delinsCA (p.Gln212=) c.847_848delinsCA (p.Gln283=) c.760_761delinsCA (p.Gln254=) c.*350_*351delinsCA (n.*350_*351delinsCA) c.862_863delinsCA (p.Gln288=) c.544_545delinsCA (p.Gln182=) c.346_347delinsCA (p.Gln116=) c.*47_*48delinsCA (n.*47_*48delinsCA) n.917_918delinsCA c.121_122delinsCA (p.Gln41=) | |
2 | g.101412999del | CA535107088 | RFX8 | c.973del (p.Gln325LysfsTer27) c.634del (p.Gln212LysfsTer27) c.847del (p.Gln283LysfsTer27) c.760del (p.Gln254LysfsTer27) c.*350del (n.*350del) c.862del (p.Gln288LysfsTer27) c.544del (p.Gln182LysfsTer27) c.346del (p.Gln116LysfsTer27) c.*47del (n.*47del) n.917del c.121del (p.Gln41LysfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412999G>A | CA347974437 | RFX8 | c.973C>T (p.Gln325Ter) c.634C>T (p.Gln212Ter) c.847C>T (p.Gln283Ter) c.760C>T (p.Gln254Ter) c.*350C>T (n.*350C>T) c.862C>T (p.Gln288Ter) c.544C>T (p.Gln182Ter) c.346C>T (p.Gln116Ter) c.*47C>T (n.*47C>T) n.917C>T c.121C>T (p.Gln41Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412999G>C | CA347974438 | RFX8 | c.973C>G (p.Gln325Glu) c.634C>G (p.Gln212Glu) c.847C>G (p.Gln283Glu) c.760C>G (p.Gln254Glu) c.*350C>G (n.*350C>G) c.862C>G (p.Gln288Glu) c.544C>G (p.Gln182Glu) c.346C>G (p.Gln116Glu) c.*47C>G (n.*47C>G) n.917C>G c.121C>G (p.Gln41Glu) | |
2 | g.101412999G= | CA1274778605 | RFX8 | c.973C= (p.Gln325=) c.634C= (p.Gln212=) c.847C= (p.Gln283=) c.760C= (p.Gln254=) c.*350C= (n.*350C=) c.862C= (p.Gln288=) c.544C= (p.Gln182=) c.346C= (p.Gln116=) c.*47C= (n.*47C=) n.917C= c.121C= (p.Gln41=) | |
2 | g.101412999G>T | CA347974439 | RFX8 | c.973C>A (p.Gln325Lys) c.634C>A (p.Gln212Lys) c.847C>A (p.Gln283Lys) c.760C>A (p.Gln254Lys) c.*350C>A (n.*350C>A) c.862C>A (p.Gln288Lys) c.544C>A (p.Gln182Lys) c.346C>A (p.Gln116Lys) c.*47C>A (n.*47C>A) n.917C>A c.121C>A (p.Gln41Lys) | |
2 | g.101413000A>C | CA347974440 | RFX8 | c.972T>G (p.Asn324Lys) c.633T>G (p.Asn211Lys) c.846T>G (p.Asn282Lys) c.759T>G (p.Asn253Lys) c.*349T>G (n.*349T>G) c.861T>G (p.Asn287Lys) c.543T>G (p.Asn181Lys) c.345T>G (p.Asn115Lys) c.*46T>G (n.*46T>G) n.916T>G c.120T>G (p.Asn40Lys) | |
2 | g.101413000A>G | CA427793450 | RFX8 | c.972T>C (p.Asn324=) c.633T>C (p.Asn211=) c.846T>C (p.Asn282=) c.759T>C (p.Asn253=) c.*349T>C (n.*349T>C) c.861T>C (p.Asn287=) c.543T>C (p.Asn181=) c.345T>C (p.Asn115=) c.*46T>C (n.*46T>C) n.916T>C c.120T>C (p.Asn40=) | gnomAD v4 |
2 | g.101413000A>T | CA347974441 | RFX8 | c.972T>A (p.Asn324Lys) c.633T>A (p.Asn211Lys) c.846T>A (p.Asn282Lys) c.759T>A (p.Asn253Lys) c.*349T>A (n.*349T>A) c.861T>A (p.Asn287Lys) c.543T>A (p.Asn181Lys) c.345T>A (p.Asn115Lys) c.*46T>A (n.*46T>A) n.916T>A c.120T>A (p.Asn40Lys) | |
2 | g.101413001T>A | CA347974442 | RFX8 | c.971A>T (p.Asn324Ile) c.632A>T (p.Asn211Ile) c.845A>T (p.Asn282Ile) c.758A>T (p.Asn253Ile) c.*348A>T (n.*348A>T) c.860A>T (p.Asn287Ile) c.542A>T (p.Asn181Ile) c.344A>T (p.Asn115Ile) c.*45A>T (n.*45A>T) n.915A>T c.119A>T (p.Asn40Ile) | |
2 | g.101413001T>C | CA1806432 | RFX8 | c.971A>G (p.Asn324Ser) c.632A>G (p.Asn211Ser) c.845A>G (p.Asn282Ser) c.758A>G (p.Asn253Ser) c.*348A>G (n.*348A>G) c.860A>G (p.Asn287Ser) c.542A>G (p.Asn181Ser) c.344A>G (p.Asn115Ser) c.*45A>G (n.*45A>G) n.915A>G c.119A>G (p.Asn40Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413001T>G | CA347974443 | RFX8 | c.971A>C (p.Asn324Thr) c.632A>C (p.Asn211Thr) c.845A>C (p.Asn282Thr) c.758A>C (p.Asn253Thr) c.*348A>C (n.*348A>C) c.860A>C (p.Asn287Thr) c.542A>C (p.Asn181Thr) c.344A>C (p.Asn115Thr) c.*45A>C (n.*45A>C) n.915A>C c.119A>C (p.Asn40Thr) | |
2 | g.101413001T= | CA1274778606 | RFX8 | c.971A= (p.Asn324=) c.632A= (p.Asn211=) c.845A= (p.Asn282=) c.758A= (p.Asn253=) c.*348A= (n.*348A=) c.860A= (p.Asn287=) c.542A= (p.Asn181=) c.344A= (p.Asn115=) c.*45A= (n.*45A=) n.915A= c.119A= (p.Asn40=) | |
2 | g.101413002T>A | CA347974444 | RFX8 | c.970A>T (p.Asn324Tyr) c.631A>T (p.Asn211Tyr) c.844A>T (p.Asn282Tyr) c.757A>T (p.Asn253Tyr) c.*347A>T (n.*347A>T) c.859A>T (p.Asn287Tyr) c.541A>T (p.Asn181Tyr) c.343A>T (p.Asn115Tyr) c.*44A>T (n.*44A>T) n.914A>T c.118A>T (p.Asn40Tyr) | |
2 | g.101413002T>C | CA347974446 | RFX8 | c.970A>G (p.Asn324Asp) c.631A>G (p.Asn211Asp) c.844A>G (p.Asn282Asp) c.757A>G (p.Asn253Asp) c.*347A>G (n.*347A>G) c.859A>G (p.Asn287Asp) c.541A>G (p.Asn181Asp) c.343A>G (p.Asn115Asp) c.*44A>G (n.*44A>G) n.914A>G c.118A>G (p.Asn40Asp) | |
2 | g.101413002T>G | CA347974445 | RFX8 | c.970A>C (p.Asn324His) c.631A>C (p.Asn211His) c.844A>C (p.Asn282His) c.757A>C (p.Asn253His) c.*347A>C (n.*347A>C) c.859A>C (p.Asn287His) c.541A>C (p.Asn181His) c.343A>C (p.Asn115His) c.*44A>C (n.*44A>C) n.914A>C c.118A>C (p.Asn40His) | |
2 | g.101413003G>A | CA427793467 | RFX8 | c.969C>T (p.Ile323=) c.630C>T (p.Ile210=) c.843C>T (p.Ile281=) c.756C>T (p.Ile252=) c.*346C>T (n.*346C>T) c.858C>T (p.Ile286=) c.540C>T (p.Ile180=) c.342C>T (p.Ile114=) c.*43C>T (n.*43C>T) n.913C>T c.117C>T (p.Ile39=) | |
2 | g.101413003G>C | CA347974447 | RFX8 | c.969C>G (p.Ile323Met) c.630C>G (p.Ile210Met) c.843C>G (p.Ile281Met) c.756C>G (p.Ile252Met) c.*346C>G (n.*346C>G) c.858C>G (p.Ile286Met) c.540C>G (p.Ile180Met) c.342C>G (p.Ile114Met) c.*43C>G (n.*43C>G) n.913C>G c.117C>G (p.Ile39Met) | |
2 | g.101413003G>T | CA427793472 | RFX8 | c.969C>A (p.Ile323=) c.630C>A (p.Ile210=) c.843C>A (p.Ile281=) c.756C>A (p.Ile252=) c.*346C>A (n.*346C>A) c.858C>A (p.Ile286=) c.540C>A (p.Ile180=) c.342C>A (p.Ile114=) c.*43C>A (n.*43C>A) n.913C>A c.117C>A (p.Ile39=) | |
2 | g.101413004A>C | CA347974448 | RFX8 | c.968T>G (p.Ile323Ser) c.629T>G (p.Ile210Ser) c.842T>G (p.Ile281Ser) c.755T>G (p.Ile252Ser) c.*345T>G (n.*345T>G) c.857T>G (p.Ile286Ser) c.539T>G (p.Ile180Ser) c.341T>G (p.Ile114Ser) c.*42T>G (n.*42T>G) n.912T>G c.116T>G (p.Ile39Ser) | |
2 | g.101413004A>G | CA347974449 | RFX8 | c.968T>C (p.Ile323Thr) c.629T>C (p.Ile210Thr) c.842T>C (p.Ile281Thr) c.755T>C (p.Ile252Thr) c.*345T>C (n.*345T>C) c.857T>C (p.Ile286Thr) c.539T>C (p.Ile180Thr) c.341T>C (p.Ile114Thr) c.*42T>C (n.*42T>C) n.912T>C c.116T>C (p.Ile39Thr) | gnomAD v4 |
2 | g.101413004A>T | CA347974450 | RFX8 | c.968T>A (p.Ile323Asn) c.629T>A (p.Ile210Asn) c.842T>A (p.Ile281Asn) c.755T>A (p.Ile252Asn) c.*345T>A (n.*345T>A) c.857T>A (p.Ile286Asn) c.539T>A (p.Ile180Asn) c.341T>A (p.Ile114Asn) c.*42T>A (n.*42T>A) n.912T>A c.116T>A (p.Ile39Asn) | |
2 | g.101413005T>A | CA347974451 | RFX8 | c.967A>T (p.Ile323Phe) c.628A>T (p.Ile210Phe) c.841A>T (p.Ile281Phe) c.754A>T (p.Ile252Phe) c.*344A>T (n.*344A>T) c.856A>T (p.Ile286Phe) c.538A>T (p.Ile180Phe) c.340A>T (p.Ile114Phe) c.*41A>T (n.*41A>T) n.911A>T c.115A>T (p.Ile39Phe) | |
2 | g.101413005T>C | CA347974452 | RFX8 | c.967A>G (p.Ile323Val) c.628A>G (p.Ile210Val) c.841A>G (p.Ile281Val) c.754A>G (p.Ile252Val) c.*344A>G (n.*344A>G) c.856A>G (p.Ile286Val) c.538A>G (p.Ile180Val) c.340A>G (p.Ile114Val) c.*41A>G (n.*41A>G) n.911A>G c.115A>G (p.Ile39Val) | gnomAD v4 |
2 | g.101413005T>G | CA347974453 | RFX8 | c.967A>C (p.Ile323Leu) c.628A>C (p.Ile210Leu) c.841A>C (p.Ile281Leu) c.754A>C (p.Ile252Leu) c.*344A>C (n.*344A>C) c.856A>C (p.Ile286Leu) c.538A>C (p.Ile180Leu) c.340A>C (p.Ile114Leu) c.*41A>C (n.*41A>C) n.911A>C c.115A>C (p.Ile39Leu) | |
2 | g.101413006G>A | CA427793491 | RFX8 | c.966C>T (p.Ile322=) c.627C>T (p.Ile209=) c.840C>T (p.Ile280=) c.753C>T (p.Ile251=) c.*343C>T (n.*343C>T) c.855C>T (p.Ile285=) c.537C>T (p.Ile179=) c.339C>T (p.Ile113=) c.*40C>T (n.*40C>T) n.910C>T c.114C>T (p.Ile38=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413006G>C | CA53230245 | RFX8 | c.966C>G (p.Ile322Met) c.627C>G (p.Ile209Met) c.840C>G (p.Ile280Met) c.753C>G (p.Ile251Met) c.*343C>G (n.*343C>G) c.855C>G (p.Ile285Met) c.537C>G (p.Ile179Met) c.339C>G (p.Ile113Met) c.*40C>G (n.*40C>G) n.910C>G c.114C>G (p.Ile38Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413006G= | CA1274778607 | RFX8 | c.966C= (p.Ile322=) c.627C= (p.Ile209=) c.840C= (p.Ile280=) c.753C= (p.Ile251=) c.*343C= (n.*343C=) c.855C= (p.Ile285=) c.537C= (p.Ile179=) c.339C= (p.Ile113=) c.*40C= (n.*40C=) n.910C= c.114C= (p.Ile38=) | |
2 | g.101413006G>T | CA427793495 | RFX8 | c.966C>A (p.Ile322=) c.627C>A (p.Ile209=) c.840C>A (p.Ile280=) c.753C>A (p.Ile251=) c.*343C>A (n.*343C>A) c.855C>A (p.Ile285=) c.537C>A (p.Ile179=) c.339C>A (p.Ile113=) c.*40C>A (n.*40C>A) n.910C>A c.114C>A (p.Ile38=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413007A>C | CA347974454 | RFX8 | c.965T>G (p.Ile322Ser) c.626T>G (p.Ile209Ser) c.839T>G (p.Ile280Ser) c.752T>G (p.Ile251Ser) c.*342T>G (n.*342T>G) c.854T>G (p.Ile285Ser) c.536T>G (p.Ile179Ser) c.338T>G (p.Ile113Ser) c.*39T>G (n.*39T>G) n.909T>G c.113T>G (p.Ile38Ser) | |
2 | g.101413007A>G | CA347974455 | RFX8 | c.965T>C (p.Ile322Thr) c.626T>C (p.Ile209Thr) c.839T>C (p.Ile280Thr) c.752T>C (p.Ile251Thr) c.*342T>C (n.*342T>C) c.854T>C (p.Ile285Thr) c.536T>C (p.Ile179Thr) c.338T>C (p.Ile113Thr) c.*39T>C (n.*39T>C) n.909T>C c.113T>C (p.Ile38Thr) | |
2 | g.101413007A>T | CA347974456 | RFX8 | c.965T>A (p.Ile322Asn) c.626T>A (p.Ile209Asn) c.839T>A (p.Ile280Asn) c.752T>A (p.Ile251Asn) c.*342T>A (n.*342T>A) c.854T>A (p.Ile285Asn) c.536T>A (p.Ile179Asn) c.338T>A (p.Ile113Asn) c.*39T>A (n.*39T>A) n.909T>A c.113T>A (p.Ile38Asn) | |
2 | g.101413008T>A | CA347974457 | RFX8 | c.964A>T (p.Ile322Phe) c.625A>T (p.Ile209Phe) c.838A>T (p.Ile280Phe) c.751A>T (p.Ile251Phe) c.*341A>T (n.*341A>T) c.853A>T (p.Ile285Phe) c.535A>T (p.Ile179Phe) c.337A>T (p.Ile113Phe) c.*38A>T (n.*38A>T) n.908A>T c.112A>T (p.Ile38Phe) | |
2 | g.101413008T>C | CA53230247 | RFX8 | c.964A>G (p.Ile322Val) c.625A>G (p.Ile209Val) c.838A>G (p.Ile280Val) c.751A>G (p.Ile251Val) c.*341A>G (n.*341A>G) c.853A>G (p.Ile285Val) c.535A>G (p.Ile179Val) c.337A>G (p.Ile113Val) c.*38A>G (n.*38A>G) n.908A>G c.112A>G (p.Ile38Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413008T>G | CA347974458 | RFX8 | c.964A>C (p.Ile322Leu) c.625A>C (p.Ile209Leu) c.838A>C (p.Ile280Leu) c.751A>C (p.Ile251Leu) c.*341A>C (n.*341A>C) c.853A>C (p.Ile285Leu) c.535A>C (p.Ile179Leu) c.337A>C (p.Ile113Leu) c.*38A>C (n.*38A>C) n.908A>C c.112A>C (p.Ile38Leu) | |
2 | g.101413008T= | CA1274778608 | RFX8 | c.964A= (p.Ile322=) c.625A= (p.Ile209=) c.838A= (p.Ile280=) c.751A= (p.Ile251=) c.*341A= (n.*341A=) c.853A= (p.Ile285=) c.535A= (p.Ile179=) c.337A= (p.Ile113=) c.*38A= (n.*38A=) n.908A= c.112A= (p.Ile38=) | |
2 | g.101413009G>A | CA427793513 | RFX8 | c.963C>T (p.Ala321=) c.624C>T (p.Ala208=) c.837C>T (p.Ala279=) c.750C>T (p.Ala250=) c.*340C>T (n.*340C>T) c.852C>T (p.Ala284=) c.534C>T (p.Ala178=) c.336C>T (p.Ala112=) c.*37C>T (n.*37C>T) n.907C>T c.111C>T (p.Ala37=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413009G>C | CA427793515 | RFX8 | c.963C>G (p.Ala321=) c.624C>G (p.Ala208=) c.837C>G (p.Ala279=) c.750C>G (p.Ala250=) c.*340C>G (n.*340C>G) c.852C>G (p.Ala284=) c.534C>G (p.Ala178=) c.336C>G (p.Ala112=) c.*37C>G (n.*37C>G) n.907C>G c.111C>G (p.Ala37=) | |
2 | g.101413009G= | CA1274778609 | RFX8 | c.963C= (p.Ala321=) c.624C= (p.Ala208=) c.837C= (p.Ala279=) c.750C= (p.Ala250=) c.*340C= (n.*340C=) c.852C= (p.Ala284=) c.534C= (p.Ala178=) c.336C= (p.Ala112=) c.*37C= (n.*37C=) n.907C= c.111C= (p.Ala37=) | |
2 | g.101413009G>T | CA427793519 | RFX8 | c.963C>A (p.Ala321=) c.624C>A (p.Ala208=) c.837C>A (p.Ala279=) c.750C>A (p.Ala250=) c.*340C>A (n.*340C>A) c.852C>A (p.Ala284=) c.534C>A (p.Ala178=) c.336C>A (p.Ala112=) c.*37C>A (n.*37C>A) n.907C>A c.111C>A (p.Ala37=) | |
2 | g.101413010G>A | CA347974459 | RFX8 | c.962C>T (p.Ala321Val) c.623C>T (p.Ala208Val) c.836C>T (p.Ala279Val) c.749C>T (p.Ala250Val) c.*339C>T (n.*339C>T) c.851C>T (p.Ala284Val) c.533C>T (p.Ala178Val) c.335C>T (p.Ala112Val) c.*36C>T (n.*36C>T) n.906C>T c.110C>T (p.Ala37Val) | gnomAD v4 |
2 | g.101413010G>C | CA347974461 | RFX8 | c.962C>G (p.Ala321Gly) c.623C>G (p.Ala208Gly) c.836C>G (p.Ala279Gly) c.749C>G (p.Ala250Gly) c.*339C>G (n.*339C>G) c.851C>G (p.Ala284Gly) c.533C>G (p.Ala178Gly) c.335C>G (p.Ala112Gly) c.*36C>G (n.*36C>G) n.906C>G c.110C>G (p.Ala37Gly) | |
2 | g.101413010G>T | CA347974460 | RFX8 | c.962C>A (p.Ala321Asp) c.623C>A (p.Ala208Asp) c.836C>A (p.Ala279Asp) c.749C>A (p.Ala250Asp) c.*339C>A (n.*339C>A) c.851C>A (p.Ala284Asp) c.533C>A (p.Ala178Asp) c.335C>A (p.Ala112Asp) c.*36C>A (n.*36C>A) n.906C>A c.110C>A (p.Ala37Asp) | |
2 | g.101413011C>A | CA347974462 | RFX8 | c.961G>T (p.Ala321Ser) c.622G>T (p.Ala208Ser) c.835G>T (p.Ala279Ser) c.748G>T (p.Ala250Ser) c.*338G>T (n.*338G>T) c.850G>T (p.Ala284Ser) c.532G>T (p.Ala178Ser) c.334G>T (p.Ala112Ser) c.*35G>T (n.*35G>T) n.905G>T c.109G>T (p.Ala37Ser) | |
2 | g.101413011C>G | CA347974463 | RFX8 | c.961G>C (p.Ala321Pro) c.622G>C (p.Ala208Pro) c.835G>C (p.Ala279Pro) c.748G>C (p.Ala250Pro) c.*338G>C (n.*338G>C) c.850G>C (p.Ala284Pro) c.532G>C (p.Ala178Pro) c.334G>C (p.Ala112Pro) c.*35G>C (n.*35G>C) n.905G>C c.109G>C (p.Ala37Pro) | |
2 | g.101413011C>T | CA347974464 | RFX8 | c.961G>A (p.Ala321Thr) c.622G>A (p.Ala208Thr) c.835G>A (p.Ala279Thr) c.748G>A (p.Ala250Thr) c.*338G>A (n.*338G>A) c.850G>A (p.Ala284Thr) c.532G>A (p.Ala178Thr) c.334G>A (p.Ala112Thr) c.*35G>A (n.*35G>A) n.905G>A c.109G>A (p.Ala37Thr) | gnomAD v4 |
2 | g.101413012C>A | CA347974465 | RFX8 | c.960G>T (p.Gln320His) c.621G>T (p.Gln207His) c.834G>T (p.Gln278His) c.747G>T (p.Gln249His) c.*337G>T (n.*337G>T) c.849G>T (p.Gln283His) c.531G>T (p.Gln177His) c.333G>T (p.Gln111His) c.*34G>T (n.*34G>T) n.904G>T c.108G>T (p.Gln36His) | dbSNP |
2 | g.101413012C= | CA1274778610 | RFX8 | c.960G= (p.Gln320=) c.621G= (p.Gln207=) c.834G= (p.Gln278=) c.747G= (p.Gln249=) c.*337G= (n.*337G=) c.849G= (p.Gln283=) c.531G= (p.Gln177=) c.333G= (p.Gln111=) c.*34G= (n.*34G=) n.904G= c.108G= (p.Gln36=) | |
2 | g.101413012C>G | CA347974466 | RFX8 | c.960G>C (p.Gln320His) c.621G>C (p.Gln207His) c.834G>C (p.Gln278His) c.747G>C (p.Gln249His) c.*337G>C (n.*337G>C) c.849G>C (p.Gln283His) c.531G>C (p.Gln177His) c.333G>C (p.Gln111His) c.*34G>C (n.*34G>C) n.904G>C c.108G>C (p.Gln36His) | |
2 | g.101413012C>T | CA427793539 | RFX8 | c.960G>A (p.Gln320=) c.621G>A (p.Gln207=) c.834G>A (p.Gln278=) c.747G>A (p.Gln249=) c.*337G>A (n.*337G>A) c.849G>A (p.Gln283=) c.531G>A (p.Gln177=) c.333G>A (p.Gln111=) c.*34G>A (n.*34G>A) n.904G>A c.108G>A (p.Gln36=) | gnomAD v4 |
2 | g.101413013T>A | CA347974467 | RFX8 | c.959A>T (p.Gln320Leu) c.620A>T (p.Gln207Leu) c.833A>T (p.Gln278Leu) c.746A>T (p.Gln249Leu) c.*336A>T (n.*336A>T) c.848A>T (p.Gln283Leu) c.530A>T (p.Gln177Leu) c.332A>T (p.Gln111Leu) c.*33A>T (n.*33A>T) n.903A>T c.107A>T (p.Gln36Leu) | |
2 | g.101413013T>C | CA347974468 | RFX8 | c.959A>G (p.Gln320Arg) c.620A>G (p.Gln207Arg) c.833A>G (p.Gln278Arg) c.746A>G (p.Gln249Arg) c.*336A>G (n.*336A>G) c.848A>G (p.Gln283Arg) c.530A>G (p.Gln177Arg) c.332A>G (p.Gln111Arg) c.*33A>G (n.*33A>G) n.903A>G c.107A>G (p.Gln36Arg) | |
2 | g.101413013T>G | CA347974469 | RFX8 | c.959A>C (p.Gln320Pro) c.620A>C (p.Gln207Pro) c.833A>C (p.Gln278Pro) c.746A>C (p.Gln249Pro) c.*336A>C (n.*336A>C) c.848A>C (p.Gln283Pro) c.530A>C (p.Gln177Pro) c.332A>C (p.Gln111Pro) c.*33A>C (n.*33A>C) n.903A>C c.107A>C (p.Gln36Pro) | |
2 | g.101413014G>A | CA347974470 | RFX8 | c.958C>T (p.Gln320Ter) c.619C>T (p.Gln207Ter) c.832C>T (p.Gln278Ter) c.745C>T (p.Gln249Ter) c.*335C>T (n.*335C>T) c.847C>T (p.Gln283Ter) c.529C>T (p.Gln177Ter) c.331C>T (p.Gln111Ter) c.*32C>T (n.*32C>T) n.902C>T c.106C>T (p.Gln36Ter) | gnomAD v4 |
2 | g.101413014G>C | CA347974471 | RFX8 | c.958C>G (p.Gln320Glu) c.619C>G (p.Gln207Glu) c.832C>G (p.Gln278Glu) c.745C>G (p.Gln249Glu) c.*335C>G (n.*335C>G) c.847C>G (p.Gln283Glu) c.529C>G (p.Gln177Glu) c.331C>G (p.Gln111Glu) c.*32C>G (n.*32C>G) n.902C>G c.106C>G (p.Gln36Glu) | |
2 | g.101413014G>T | CA347974472 | RFX8 | c.958C>A (p.Gln320Lys) c.619C>A (p.Gln207Lys) c.832C>A (p.Gln278Lys) c.745C>A (p.Gln249Lys) c.*335C>A (n.*335C>A) c.847C>A (p.Gln283Lys) c.529C>A (p.Gln177Lys) c.331C>A (p.Gln111Lys) c.*32C>A (n.*32C>A) n.902C>A c.106C>A (p.Gln36Lys) | |
2 | g.101413015T>A | CA427793557 | RFX8 | c.957A>T (p.Leu319=) c.618A>T (p.Leu206=) c.831A>T (p.Leu277=) c.744A>T (p.Leu248=) c.*334A>T (n.*334A>T) c.846A>T (p.Leu282=) c.528A>T (p.Leu176=) c.330A>T (p.Leu110=) c.*31A>T (n.*31A>T) n.901A>T c.105A>T (p.Leu35=) | |
2 | g.101413015T>C | CA427793559 | RFX8 | c.957A>G (p.Leu319=) c.618A>G (p.Leu206=) c.831A>G (p.Leu277=) c.744A>G (p.Leu248=) c.*334A>G (n.*334A>G) c.846A>G (p.Leu282=) c.528A>G (p.Leu176=) c.330A>G (p.Leu110=) c.*31A>G (n.*31A>G) n.901A>G c.105A>G (p.Leu35=) | gnomAD v4 |
2 | g.101413015T>G | CA427793556 | RFX8 | c.957A>C (p.Leu319=) c.618A>C (p.Leu206=) c.831A>C (p.Leu277=) c.744A>C (p.Leu248=) c.*334A>C (n.*334A>C) c.846A>C (p.Leu282=) c.528A>C (p.Leu176=) c.330A>C (p.Leu110=) c.*31A>C (n.*31A>C) n.901A>C c.105A>C (p.Leu35=) | |
2 | g.101413015_101413016dup | CA2660437696 | RFX8 | c.956_957dup (p.Gln320TyrfsTer?) c.617_618dup (p.Gln207TyrfsTer?) c.830_831dup (p.Gln278TyrfsTer?) c.743_744dup (p.Gln249TyrfsTer?) c.*333_*334dup (n.*333_*334dup) c.845_846dup (p.Gln283TyrfsTer?) c.527_528dup (p.Gln177TyrfsTer?) c.329_330dup (p.Gln111TyrfsTer?) c.*30_*31dup (n.*30_*31dup) n.900_901dup c.104_105dup (p.Gln36TyrfsTer?) | gnomAD v4 |
2 | g.101413016A>C | CA347974473 | RFX8 | c.956T>G (p.Leu319Arg) c.617T>G (p.Leu206Arg) c.830T>G (p.Leu277Arg) c.743T>G (p.Leu248Arg) c.*333T>G (n.*333T>G) c.845T>G (p.Leu282Arg) c.527T>G (p.Leu176Arg) c.329T>G (p.Leu110Arg) c.*30T>G (n.*30T>G) n.900T>G c.104T>G (p.Leu35Arg) | |
2 | g.101413016A>G | CA347974475 | RFX8 | c.956T>C (p.Leu319Pro) c.617T>C (p.Leu206Pro) c.830T>C (p.Leu277Pro) c.743T>C (p.Leu248Pro) c.*333T>C (n.*333T>C) c.845T>C (p.Leu282Pro) c.527T>C (p.Leu176Pro) c.329T>C (p.Leu110Pro) c.*30T>C (n.*30T>C) n.900T>C c.104T>C (p.Leu35Pro) | |
2 | g.101413016A>T | CA347974474 | RFX8 | c.956T>A (p.Leu319Gln) c.617T>A (p.Leu206Gln) c.830T>A (p.Leu277Gln) c.743T>A (p.Leu248Gln) c.*333T>A (n.*333T>A) c.845T>A (p.Leu282Gln) c.527T>A (p.Leu176Gln) c.329T>A (p.Leu110Gln) c.*30T>A (n.*30T>A) n.900T>A c.104T>A (p.Leu35Gln) | |
2 | g.101413017G>A | CA427793567 | RFX8 | c.955C>T (p.Leu319=) c.616C>T (p.Leu206=) c.829C>T (p.Leu277=) c.742C>T (p.Leu248=) c.*332C>T (n.*332C>T) c.844C>T (p.Leu282=) c.526C>T (p.Leu176=) c.328C>T (p.Leu110=) c.*29C>T (n.*29C>T) n.899C>T c.103C>T (p.Leu35=) | dbSNP gnomAD v2 |
2 | g.101413017G>C | CA347974476 | RFX8 | c.955C>G (p.Leu319Val) c.616C>G (p.Leu206Val) c.829C>G (p.Leu277Val) c.742C>G (p.Leu248Val) c.*332C>G (n.*332C>G) c.844C>G (p.Leu282Val) c.526C>G (p.Leu176Val) c.328C>G (p.Leu110Val) c.*29C>G (n.*29C>G) n.899C>G c.103C>G (p.Leu35Val) | dbSNP gnomAD v2 |
2 | g.101413017G= | CA1274778611 | RFX8 | c.955C= (p.Leu319=) c.616C= (p.Leu206=) c.829C= (p.Leu277=) c.742C= (p.Leu248=) c.*332C= (n.*332C=) c.844C= (p.Leu282=) c.526C= (p.Leu176=) c.328C= (p.Leu110=) c.*29C= (n.*29C=) n.899C= c.103C= (p.Leu35=) | |
2 | g.101413017G>T | CA347974477 | RFX8 | c.955C>A (p.Leu319Ile) c.616C>A (p.Leu206Ile) c.829C>A (p.Leu277Ile) c.742C>A (p.Leu248Ile) c.*332C>A (n.*332C>A) c.844C>A (p.Leu282Ile) c.526C>A (p.Leu176Ile) c.328C>A (p.Leu110Ile) c.*29C>A (n.*29C>A) n.899C>A c.103C>A (p.Leu35Ile) | dbSNP |
2 | g.101413018A>C | CA347974478 | RFX8 | c.954T>G (p.Asp318Glu) c.615T>G (p.Asp205Glu) c.828T>G (p.Asp276Glu) c.741T>G (p.Asp247Glu) c.*331T>G (n.*331T>G) c.843T>G (p.Asp281Glu) c.525T>G (p.Asp175Glu) c.327T>G (p.Asp109Glu) c.*28T>G (n.*28T>G) n.898T>G c.102T>G (p.Asp34Glu) | |
2 | g.101413018A>G | CA427793574 | RFX8 | c.954T>C (p.Asp318=) c.615T>C (p.Asp205=) c.828T>C (p.Asp276=) c.741T>C (p.Asp247=) c.*331T>C (n.*331T>C) c.843T>C (p.Asp281=) c.525T>C (p.Asp175=) c.327T>C (p.Asp109=) c.*28T>C (n.*28T>C) n.898T>C c.102T>C (p.Asp34=) | |
2 | g.101413018A>T | CA347974479 | RFX8 | c.954T>A (p.Asp318Glu) c.615T>A (p.Asp205Glu) c.828T>A (p.Asp276Glu) c.741T>A (p.Asp247Glu) c.*331T>A (n.*331T>A) c.843T>A (p.Asp281Glu) c.525T>A (p.Asp175Glu) c.327T>A (p.Asp109Glu) c.*28T>A (n.*28T>A) n.898T>A c.102T>A (p.Asp34Glu) | |
2 | g.101413019T>A | CA347974480 | RFX8 | c.953A>T (p.Asp318Val) c.614A>T (p.Asp205Val) c.827A>T (p.Asp276Val) c.740A>T (p.Asp247Val) c.*330A>T (n.*330A>T) c.842A>T (p.Asp281Val) c.524A>T (p.Asp175Val) c.326A>T (p.Asp109Val) c.*27A>T (n.*27A>T) n.897A>T c.101A>T (p.Asp34Val) | |
2 | g.101413019T>C | CA347974481 | RFX8 | c.953A>G (p.Asp318Gly) c.614A>G (p.Asp205Gly) c.827A>G (p.Asp276Gly) c.740A>G (p.Asp247Gly) c.*330A>G (n.*330A>G) c.842A>G (p.Asp281Gly) c.524A>G (p.Asp175Gly) c.326A>G (p.Asp109Gly) c.*27A>G (n.*27A>G) n.897A>G c.101A>G (p.Asp34Gly) | |
2 | g.101413019T>G | CA347974482 | RFX8 | c.953A>C (p.Asp318Ala) c.614A>C (p.Asp205Ala) c.827A>C (p.Asp276Ala) c.740A>C (p.Asp247Ala) c.*330A>C (n.*330A>C) c.842A>C (p.Asp281Ala) c.524A>C (p.Asp175Ala) c.326A>C (p.Asp109Ala) c.*27A>C (n.*27A>C) n.897A>C c.101A>C (p.Asp34Ala) | |
2 | g.101413020C>A | CA347974483 | RFX8 | c.952G>T (p.Asp318Tyr) c.613G>T (p.Asp205Tyr) c.826G>T (p.Asp276Tyr) c.739G>T (p.Asp247Tyr) c.*329G>T (n.*329G>T) c.841G>T (p.Asp281Tyr) c.523G>T (p.Asp175Tyr) c.325G>T (p.Asp109Tyr) c.*26G>T (n.*26G>T) n.896G>T c.100G>T (p.Asp34Tyr) | |
2 | g.101413020C= | CA1274778612 | RFX8 | c.952G= (p.Asp318=) c.613G= (p.Asp205=) c.826G= (p.Asp276=) c.739G= (p.Asp247=) c.*329G= (n.*329G=) c.841G= (p.Asp281=) c.523G= (p.Asp175=) c.325G= (p.Asp109=) c.*26G= (n.*26G=) n.896G= c.100G= (p.Asp34=) | |
2 | g.101413020C>G | CA347974484 | RFX8 | c.952G>C (p.Asp318His) c.613G>C (p.Asp205His) c.826G>C (p.Asp276His) c.739G>C (p.Asp247His) c.*329G>C (n.*329G>C) c.841G>C (p.Asp281His) c.523G>C (p.Asp175His) c.325G>C (p.Asp109His) c.*26G>C (n.*26G>C) n.896G>C c.100G>C (p.Asp34His) | |
2 | g.101413020C>T | CA347974485 | RFX8 | c.952G>A (p.Asp318Asn) c.613G>A (p.Asp205Asn) c.826G>A (p.Asp276Asn) c.739G>A (p.Asp247Asn) c.*329G>A (n.*329G>A) c.841G>A (p.Asp281Asn) c.523G>A (p.Asp175Asn) c.325G>A (p.Asp109Asn) c.*26G>A (n.*26G>A) n.896G>A c.100G>A (p.Asp34Asn) | dbSNP gnomAD v4 |
2 | g.101413021T>A | CA427793594 | RFX8 | c.951A>T (p.Ser317=) c.612A>T (p.Ser204=) c.825A>T (p.Ser275=) c.738A>T (p.Ser246=) c.*328A>T (n.*328A>T) c.840A>T (p.Ser280=) c.522A>T (p.Ser174=) c.324A>T (p.Ser108=) c.*25A>T (n.*25A>T) n.895A>T c.99A>T (p.Ser33=) | |
2 | g.101413021T>C | CA427793601 | RFX8 | c.951A>G (p.Ser317=) c.612A>G (p.Ser204=) c.825A>G (p.Ser275=) c.738A>G (p.Ser246=) c.*328A>G (n.*328A>G) c.840A>G (p.Ser280=) c.522A>G (p.Ser174=) c.324A>G (p.Ser108=) c.*25A>G (n.*25A>G) n.895A>G c.99A>G (p.Ser33=) | |
2 | g.101413021T>G | CA427793598 | RFX8 | c.951A>C (p.Ser317=) c.612A>C (p.Ser204=) c.825A>C (p.Ser275=) c.738A>C (p.Ser246=) c.*328A>C (n.*328A>C) c.840A>C (p.Ser280=) c.522A>C (p.Ser174=) c.324A>C (p.Ser108=) c.*25A>C (n.*25A>C) n.895A>C c.99A>C (p.Ser33=) | |
2 | g.101413022G>A | CA347974486 | RFX8 | c.950C>T (p.Ser317Leu) c.611C>T (p.Ser204Leu) c.824C>T (p.Ser275Leu) c.737C>T (p.Ser246Leu) c.*327C>T (n.*327C>T) c.839C>T (p.Ser280Leu) c.521C>T (p.Ser174Leu) c.323C>T (p.Ser108Leu) c.*24C>T (n.*24C>T) n.894C>T c.98C>T (p.Ser33Leu) | dbSNP gnomAD v4 |
2 | g.101413022G>C | CA347974487 | RFX8 | c.950C>G (p.Ser317Ter) c.611C>G (p.Ser204Ter) c.824C>G (p.Ser275Ter) c.737C>G (p.Ser246Ter) c.*327C>G (n.*327C>G) c.839C>G (p.Ser280Ter) c.521C>G (p.Ser174Ter) c.323C>G (p.Ser108Ter) c.*24C>G (n.*24C>G) n.894C>G c.98C>G (p.Ser33Ter) | |
2 | g.101413022G= | CA1274778613 | RFX8 | c.950C= (p.Ser317=) c.611C= (p.Ser204=) c.824C= (p.Ser275=) c.737C= (p.Ser246=) c.*327C= (n.*327C=) c.839C= (p.Ser280=) c.521C= (p.Ser174=) c.323C= (p.Ser108=) c.*24C= (n.*24C=) n.894C= c.98C= (p.Ser33=) | |
2 | g.101413022G>T | CA347974488 | RFX8 | c.950C>A (p.Ser317Ter) c.611C>A (p.Ser204Ter) c.824C>A (p.Ser275Ter) c.737C>A (p.Ser246Ter) c.*327C>A (n.*327C>A) c.839C>A (p.Ser280Ter) c.521C>A (p.Ser174Ter) c.323C>A (p.Ser108Ter) c.*24C>A (n.*24C>A) n.894C>A c.98C>A (p.Ser33Ter) | gnomAD v4 |
2 | g.101413023A>C | CA347974491 | RFX8 | c.949T>G (p.Ser317Ala) c.610T>G (p.Ser204Ala) c.823T>G (p.Ser275Ala) c.736T>G (p.Ser246Ala) c.*326T>G (n.*326T>G) c.838T>G (p.Ser280Ala) c.520T>G (p.Ser174Ala) c.322T>G (p.Ser108Ala) c.*23T>G (n.*23T>G) n.893T>G c.97T>G (p.Ser33Ala) | |
2 | g.101413023A>G | CA347974490 | RFX8 | c.949T>C (p.Ser317Pro) c.610T>C (p.Ser204Pro) c.823T>C (p.Ser275Pro) c.736T>C (p.Ser246Pro) c.*326T>C (n.*326T>C) c.838T>C (p.Ser280Pro) c.520T>C (p.Ser174Pro) c.322T>C (p.Ser108Pro) c.*23T>C (n.*23T>C) n.893T>C c.97T>C (p.Ser33Pro) | |
2 | g.101413023A>T | CA347974489 | RFX8 | c.949T>A (p.Ser317Thr) c.610T>A (p.Ser204Thr) c.823T>A (p.Ser275Thr) c.736T>A (p.Ser246Thr) c.*326T>A (n.*326T>A) c.838T>A (p.Ser280Thr) c.520T>A (p.Ser174Thr) c.322T>A (p.Ser108Thr) c.*23T>A (n.*23T>A) n.893T>A c.97T>A (p.Ser33Thr) | |
2 | g.101413024C>A | CA347974492 | RFX8 | c.948G>T (p.Lys316Asn) c.609G>T (p.Lys203Asn) c.822G>T (p.Lys274Asn) c.735G>T (p.Lys245Asn) c.*325G>T (n.*325G>T) c.837G>T (p.Lys279Asn) c.519G>T (p.Lys173Asn) c.321G>T (p.Lys107Asn) c.*22G>T (n.*22G>T) n.892G>T c.96G>T (p.Lys32Asn) | |
2 | g.101413024C= | CA1274778614 | RFX8 | c.948G= (p.Lys316=) c.609G= (p.Lys203=) c.822G= (p.Lys274=) c.735G= (p.Lys245=) c.*325G= (n.*325G=) c.837G= (p.Lys279=) c.519G= (p.Lys173=) c.321G= (p.Lys107=) c.*22G= (n.*22G=) n.892G= c.96G= (p.Lys32=) | |
2 | g.101413024C>G | CA347974493 | RFX8 | c.948G>C (p.Lys316Asn) c.609G>C (p.Lys203Asn) c.822G>C (p.Lys274Asn) c.735G>C (p.Lys245Asn) c.*325G>C (n.*325G>C) c.837G>C (p.Lys279Asn) c.519G>C (p.Lys173Asn) c.321G>C (p.Lys107Asn) c.*22G>C (n.*22G>C) n.892G>C c.96G>C (p.Lys32Asn) | |
2 | g.101413024C>T | CA427793624 | RFX8 | c.948G>A (p.Lys316=) c.609G>A (p.Lys203=) c.822G>A (p.Lys274=) c.735G>A (p.Lys245=) c.*325G>A (n.*325G>A) c.837G>A (p.Lys279=) c.519G>A (p.Lys173=) c.321G>A (p.Lys107=) c.*22G>A (n.*22G>A) n.892G>A c.96G>A (p.Lys32=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413025T>A | CA347974494 | RFX8 | c.947A>T (p.Lys316Met) c.608A>T (p.Lys203Met) c.821A>T (p.Lys274Met) c.734A>T (p.Lys245Met) c.*324A>T (n.*324A>T) c.836A>T (p.Lys279Met) c.518A>T (p.Lys173Met) c.320A>T (p.Lys107Met) c.*21A>T (n.*21A>T) n.891A>T c.95A>T (p.Lys32Met) | |
2 | g.101413025T>C | CA347974495 | RFX8 | c.947A>G (p.Lys316Arg) c.608A>G (p.Lys203Arg) c.821A>G (p.Lys274Arg) c.734A>G (p.Lys245Arg) c.*324A>G (n.*324A>G) c.836A>G (p.Lys279Arg) c.518A>G (p.Lys173Arg) c.320A>G (p.Lys107Arg) c.*21A>G (n.*21A>G) n.891A>G c.95A>G (p.Lys32Arg) | |
2 | g.101413025T>G | CA347974496 | RFX8 | c.947A>C (p.Lys316Thr) c.608A>C (p.Lys203Thr) c.821A>C (p.Lys274Thr) c.734A>C (p.Lys245Thr) c.*324A>C (n.*324A>C) c.836A>C (p.Lys279Thr) c.518A>C (p.Lys173Thr) c.320A>C (p.Lys107Thr) c.*21A>C (n.*21A>C) n.891A>C c.95A>C (p.Lys32Thr) | |
2 | g.101413026T>A | CA347974497 | RFX8 | c.946A>T (p.Lys316Ter) c.607A>T (p.Lys203Ter) c.820A>T (p.Lys274Ter) c.733A>T (p.Lys245Ter) c.*323A>T (n.*323A>T) c.835A>T (p.Lys279Ter) c.517A>T (p.Lys173Ter) c.319A>T (p.Lys107Ter) c.*20A>T (n.*20A>T) n.890A>T c.94A>T (p.Lys32Ter) | |
2 | g.101413026T>C | CA347974498 | RFX8 | c.946A>G (p.Lys316Glu) c.607A>G (p.Lys203Glu) c.820A>G (p.Lys274Glu) c.733A>G (p.Lys245Glu) c.*323A>G (n.*323A>G) c.835A>G (p.Lys279Glu) c.517A>G (p.Lys173Glu) c.319A>G (p.Lys107Glu) c.*20A>G (n.*20A>G) n.890A>G c.94A>G (p.Lys32Glu) | |
2 | g.101413026T>G | CA347974499 | RFX8 | c.946A>C (p.Lys316Gln) c.607A>C (p.Lys203Gln) c.820A>C (p.Lys274Gln) c.733A>C (p.Lys245Gln) c.*323A>C (n.*323A>C) c.835A>C (p.Lys279Gln) c.517A>C (p.Lys173Gln) c.319A>C (p.Lys107Gln) c.*20A>C (n.*20A>C) n.890A>C c.94A>C (p.Lys32Gln) | |
2 | g.101413027C>A | CA347974500 | RFX8 | c.945G>T (p.Leu315Phe) c.606G>T (p.Leu202Phe) c.819G>T (p.Leu273Phe) c.732G>T (p.Leu244Phe) c.*322G>T (n.*322G>T) c.834G>T (p.Leu278Phe) c.516G>T (p.Leu172Phe) c.318G>T (p.Leu106Phe) c.*19G>T (n.*19G>T) n.889G>T c.93G>T (p.Leu31Phe) | |
2 | g.101413027C= | CA1274778615 | RFX8 | c.945G= (p.Leu315=) c.606G= (p.Leu202=) c.819G= (p.Leu273=) c.732G= (p.Leu244=) c.*322G= (n.*322G=) c.834G= (p.Leu278=) c.516G= (p.Leu172=) c.318G= (p.Leu106=) c.*19G= (n.*19G=) n.889G= c.93G= (p.Leu31=) | |
2 | g.101413027C>G | CA1806433 | RFX8 | c.945G>C (p.Leu315Phe) c.606G>C (p.Leu202Phe) c.819G>C (p.Leu273Phe) c.732G>C (p.Leu244Phe) c.*322G>C (n.*322G>C) c.834G>C (p.Leu278Phe) c.516G>C (p.Leu172Phe) c.318G>C (p.Leu106Phe) c.*19G>C (n.*19G>C) n.889G>C c.93G>C (p.Leu31Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413027C>T | CA427793639 | RFX8 | c.945G>A (p.Leu315=) c.606G>A (p.Leu202=) c.819G>A (p.Leu273=) c.732G>A (p.Leu244=) c.*322G>A (n.*322G>A) c.834G>A (p.Leu278=) c.516G>A (p.Leu172=) c.318G>A (p.Leu106=) c.*19G>A (n.*19G>A) n.889G>A c.93G>A (p.Leu31=) | |
2 | g.101413028A>C | CA347974501 | RFX8 | c.944T>G (p.Leu315Trp) c.605T>G (p.Leu202Trp) c.818T>G (p.Leu273Trp) c.731T>G (p.Leu244Trp) c.*321T>G (n.*321T>G) c.833T>G (p.Leu278Trp) c.515T>G (p.Leu172Trp) c.317T>G (p.Leu106Trp) c.*18T>G (n.*18T>G) n.888T>G c.92T>G (p.Leu31Trp) | |
2 | g.101413028A>G | CA347974502 | RFX8 | c.944T>C (p.Leu315Ser) c.605T>C (p.Leu202Ser) c.818T>C (p.Leu273Ser) c.731T>C (p.Leu244Ser) c.*321T>C (n.*321T>C) c.833T>C (p.Leu278Ser) c.515T>C (p.Leu172Ser) c.317T>C (p.Leu106Ser) c.*18T>C (n.*18T>C) n.888T>C c.92T>C (p.Leu31Ser) | gnomAD v4 |
2 | g.101413028A>T | CA347974503 | RFX8 | c.944T>A (p.Leu315Ter) c.605T>A (p.Leu202Ter) c.818T>A (p.Leu273Ter) c.731T>A (p.Leu244Ter) c.*321T>A (n.*321T>A) c.833T>A (p.Leu278Ter) c.515T>A (p.Leu172Ter) c.317T>A (p.Leu106Ter) c.*18T>A (n.*18T>A) n.888T>A c.92T>A (p.Leu31Ter) | |
2 | g.101413029A>C | CA347974505 | RFX8 | c.943T>G (p.Leu315Val) c.604T>G (p.Leu202Val) c.817T>G (p.Leu273Val) c.730T>G (p.Leu244Val) c.*320T>G (n.*320T>G) c.832T>G (p.Leu278Val) c.514T>G (p.Leu172Val) c.316T>G (p.Leu106Val) c.*17T>G (n.*17T>G) n.887T>G c.91T>G (p.Leu31Val) | |
2 | g.101413029A>G | CA427793656 | RFX8 | c.943T>C (p.Leu315=) c.604T>C (p.Leu202=) c.817T>C (p.Leu273=) c.730T>C (p.Leu244=) c.*320T>C (n.*320T>C) c.832T>C (p.Leu278=) c.514T>C (p.Leu172=) c.316T>C (p.Leu106=) c.*17T>C (n.*17T>C) n.887T>C c.91T>C (p.Leu31=) | |
2 | g.101413029A>T | CA347974504 | RFX8 | c.943T>A (p.Leu315Met) c.604T>A (p.Leu202Met) c.817T>A (p.Leu273Met) c.730T>A (p.Leu244Met) c.*320T>A (n.*320T>A) c.832T>A (p.Leu278Met) c.514T>A (p.Leu172Met) c.316T>A (p.Leu106Met) c.*17T>A (n.*17T>A) n.887T>A c.91T>A (p.Leu31Met) | |
2 | g.101413030A>C | CA427793661 | RFX8 | c.942T>G (p.Val314=) c.603T>G (p.Val201=) c.816T>G (p.Val272=) c.729T>G (p.Val243=) c.*319T>G (n.*319T>G) c.831T>G (p.Val277=) c.513T>G (p.Val171=) c.315T>G (p.Val105=) c.*16T>G (n.*16T>G) n.886T>G c.90T>G (p.Val30=) | |
2 | g.101413030A>G | CA427793664 | RFX8 | c.942T>C (p.Val314=) c.603T>C (p.Val201=) c.816T>C (p.Val272=) c.729T>C (p.Val243=) c.*319T>C (n.*319T>C) c.831T>C (p.Val277=) c.513T>C (p.Val171=) c.315T>C (p.Val105=) c.*16T>C (n.*16T>C) n.886T>C c.90T>C (p.Val30=) | |
2 | g.101413030A>T | CA427793666 | RFX8 | c.942T>A (p.Val314=) c.603T>A (p.Val201=) c.816T>A (p.Val272=) c.729T>A (p.Val243=) c.*319T>A (n.*319T>A) c.831T>A (p.Val277=) c.513T>A (p.Val171=) c.315T>A (p.Val105=) c.*16T>A (n.*16T>A) n.886T>A c.90T>A (p.Val30=) | |
2 | g.101413031A>C | CA347974506 | RFX8 | c.941T>G (p.Val314Gly) c.602T>G (p.Val201Gly) c.815T>G (p.Val272Gly) c.728T>G (p.Val243Gly) c.*318T>G (n.*318T>G) c.830T>G (p.Val277Gly) c.512T>G (p.Val171Gly) c.314T>G (p.Val105Gly) c.*15T>G (n.*15T>G) n.885T>G c.89T>G (p.Val30Gly) | |
2 | g.101413031A>G | CA347974507 | RFX8 | c.941T>C (p.Val314Ala) c.602T>C (p.Val201Ala) c.815T>C (p.Val272Ala) c.728T>C (p.Val243Ala) c.*318T>C (n.*318T>C) c.830T>C (p.Val277Ala) c.512T>C (p.Val171Ala) c.314T>C (p.Val105Ala) c.*15T>C (n.*15T>C) n.885T>C c.89T>C (p.Val30Ala) | |
2 | g.101413031A>T | CA347974508 | RFX8 | c.941T>A (p.Val314Asp) c.602T>A (p.Val201Asp) c.815T>A (p.Val272Asp) c.728T>A (p.Val243Asp) c.*318T>A (n.*318T>A) c.830T>A (p.Val277Asp) c.512T>A (p.Val171Asp) c.314T>A (p.Val105Asp) c.*15T>A (n.*15T>A) n.885T>A c.89T>A (p.Val30Asp) | |
2 | g.101413032C>A | CA347974509 | RFX8 | c.940G>T (p.Val314Phe) c.601G>T (p.Val201Phe) c.814G>T (p.Val272Phe) c.727G>T (p.Val243Phe) c.*317G>T (n.*317G>T) c.829G>T (p.Val277Phe) c.511G>T (p.Val171Phe) c.313G>T (p.Val105Phe) c.*14G>T (n.*14G>T) n.884G>T c.88G>T (p.Val30Phe) | |
2 | g.101413032C= | CA1274778616 | RFX8 | c.940G= (p.Val314=) c.601G= (p.Val201=) c.814G= (p.Val272=) c.727G= (p.Val243=) c.*317G= (n.*317G=) c.829G= (p.Val277=) c.511G= (p.Val171=) c.313G= (p.Val105=) c.*14G= (n.*14G=) n.884G= c.88G= (p.Val30=) | |
2 | g.101413032C>G | CA347974510 | RFX8 | c.940G>C (p.Val314Leu) c.601G>C (p.Val201Leu) c.814G>C (p.Val272Leu) c.727G>C (p.Val243Leu) c.*317G>C (n.*317G>C) c.829G>C (p.Val277Leu) c.511G>C (p.Val171Leu) c.313G>C (p.Val105Leu) c.*14G>C (n.*14G>C) n.884G>C c.88G>C (p.Val30Leu) | |
2 | g.101413032C>T | CA53230250 | RFX8 | c.940G>A (p.Val314Ile) c.601G>A (p.Val201Ile) c.814G>A (p.Val272Ile) c.727G>A (p.Val243Ile) c.*317G>A (n.*317G>A) c.829G>A (p.Val277Ile) c.511G>A (p.Val171Ile) c.313G>A (p.Val105Ile) c.*14G>A (n.*14G>A) n.884G>A c.88G>A (p.Val30Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413033G>A | CA427793685 | RFX8 | c.939C>T (p.Ser313=) c.600C>T (p.Ser200=) c.813C>T (p.Ser271=) c.726C>T (p.Ser242=) c.*316C>T (n.*316C>T) c.828C>T (p.Ser276=) c.510C>T (p.Ser170=) c.312C>T (p.Ser104=) c.*13C>T (n.*13C>T) n.883C>T c.87C>T (p.Ser29=) | gnomAD v4 |
2 | g.101413033G>C | CA347974512 | RFX8 | c.939C>G (p.Ser313Arg) c.600C>G (p.Ser200Arg) c.813C>G (p.Ser271Arg) c.726C>G (p.Ser242Arg) c.*316C>G (n.*316C>G) c.828C>G (p.Ser276Arg) c.510C>G (p.Ser170Arg) c.312C>G (p.Ser104Arg) c.*13C>G (n.*13C>G) n.883C>G c.87C>G (p.Ser29Arg) | |
2 | g.101413033G>T | CA347974511 | RFX8 | c.939C>A (p.Ser313Arg) c.600C>A (p.Ser200Arg) c.813C>A (p.Ser271Arg) c.726C>A (p.Ser242Arg) c.*316C>A (n.*316C>A) c.828C>A (p.Ser276Arg) c.510C>A (p.Ser170Arg) c.312C>A (p.Ser104Arg) c.*13C>A (n.*13C>A) n.883C>A c.87C>A (p.Ser29Arg) | |
2 | g.101413034C>A | CA347974513 | RFX8 | c.938G>T (p.Ser313Ile) c.599G>T (p.Ser200Ile) c.812G>T (p.Ser271Ile) c.725G>T (p.Ser242Ile) c.*315G>T (n.*315G>T) c.827G>T (p.Ser276Ile) c.509G>T (p.Ser170Ile) c.311G>T (p.Ser104Ile) c.*12G>T (n.*12G>T) n.882G>T c.86G>T (p.Ser29Ile) | |
2 | g.101413034C>G | CA347974514 | RFX8 | c.938G>C (p.Ser313Thr) c.599G>C (p.Ser200Thr) c.812G>C (p.Ser271Thr) c.725G>C (p.Ser242Thr) c.*315G>C (n.*315G>C) c.827G>C (p.Ser276Thr) c.509G>C (p.Ser170Thr) c.311G>C (p.Ser104Thr) c.*12G>C (n.*12G>C) n.882G>C c.86G>C (p.Ser29Thr) | |
2 | g.101413034C>T | CA347974515 | RFX8 | c.938G>A (p.Ser313Asn) c.599G>A (p.Ser200Asn) c.812G>A (p.Ser271Asn) c.725G>A (p.Ser242Asn) c.*315G>A (n.*315G>A) c.827G>A (p.Ser276Asn) c.509G>A (p.Ser170Asn) c.311G>A (p.Ser104Asn) c.*12G>A (n.*12G>A) n.882G>A c.86G>A (p.Ser29Asn) | gnomAD v4 |
2 | g.101413035T>A | CA347974516 | RFX8 | c.937A>T (p.Ser313Cys) c.598A>T (p.Ser200Cys) c.811A>T (p.Ser271Cys) c.724A>T (p.Ser242Cys) c.*314A>T (n.*314A>T) c.826A>T (p.Ser276Cys) c.508A>T (p.Ser170Cys) c.310A>T (p.Ser104Cys) c.*11A>T (n.*11A>T) n.881A>T c.85A>T (p.Ser29Cys) | |
2 | g.101413035T>C | CA347974517 | RFX8 | c.937A>G (p.Ser313Gly) c.598A>G (p.Ser200Gly) c.811A>G (p.Ser271Gly) c.724A>G (p.Ser242Gly) c.*314A>G (n.*314A>G) c.826A>G (p.Ser276Gly) c.508A>G (p.Ser170Gly) c.310A>G (p.Ser104Gly) c.*11A>G (n.*11A>G) n.881A>G c.85A>G (p.Ser29Gly) | |
2 | g.101413035T>G | CA347974518 | RFX8 | c.937A>C (p.Ser313Arg) c.598A>C (p.Ser200Arg) c.811A>C (p.Ser271Arg) c.724A>C (p.Ser242Arg) c.*314A>C (n.*314A>C) c.826A>C (p.Ser276Arg) c.508A>C (p.Ser170Arg) c.310A>C (p.Ser104Arg) c.*11A>C (n.*11A>C) n.881A>C c.85A>C (p.Ser29Arg) | |
2 | g.101413036G>A | CA427793732 | RFX8 | c.936C>T (p.Val312=) c.597C>T (p.Val199=) c.810C>T (p.Val270=) c.723C>T (p.Val241=) c.*313C>T (n.*313C>T) c.825C>T (p.Val275=) c.507C>T (p.Val169=) c.309C>T (p.Val103=) c.*10C>T (n.*10C>T) n.880C>T c.84C>T (p.Val28=) | |
2 | g.101413036G>C | CA427793729 | RFX8 | c.936C>G (p.Val312=) c.597C>G (p.Val199=) c.810C>G (p.Val270=) c.723C>G (p.Val241=) c.*313C>G (n.*313C>G) c.825C>G (p.Val275=) c.507C>G (p.Val169=) c.309C>G (p.Val103=) c.*10C>G (n.*10C>G) n.880C>G c.84C>G (p.Val28=) | gnomAD v4 |
2 | g.101413036G>T | CA427793719 | RFX8 | c.936C>A (p.Val312=) c.597C>A (p.Val199=) c.810C>A (p.Val270=) c.723C>A (p.Val241=) c.*313C>A (n.*313C>A) c.825C>A (p.Val275=) c.507C>A (p.Val169=) c.309C>A (p.Val103=) c.*10C>A (n.*10C>A) n.880C>A c.84C>A (p.Val28=) | gnomAD v4 |
2 | g.101413037A= | CA1274778617 | RFX8 | c.935T= (p.Val312=) c.596T= (p.Val199=) c.809T= (p.Val270=) c.722T= (p.Val241=) c.*312T= (n.*312T=) c.824T= (p.Val275=) c.506T= (p.Val169=) c.308T= (p.Val103=) c.*9T= (n.*9T=) n.879T= c.83T= (p.Val28=) | |
2 | g.101413037A>C | CA347974519 | RFX8 | c.935T>G (p.Val312Gly) c.596T>G (p.Val199Gly) c.809T>G (p.Val270Gly) c.722T>G (p.Val241Gly) c.*312T>G (n.*312T>G) c.824T>G (p.Val275Gly) c.506T>G (p.Val169Gly) c.308T>G (p.Val103Gly) c.*9T>G (n.*9T>G) n.879T>G c.83T>G (p.Val28Gly) | |
2 | g.101413037A>G | CA347974521 | RFX8 | c.935T>C (p.Val312Ala) c.596T>C (p.Val199Ala) c.809T>C (p.Val270Ala) c.722T>C (p.Val241Ala) c.*312T>C (n.*312T>C) c.824T>C (p.Val275Ala) c.506T>C (p.Val169Ala) c.308T>C (p.Val103Ala) c.*9T>C (n.*9T>C) n.879T>C c.83T>C (p.Val28Ala) | gnomAD v4 |
2 | g.101413037A>T | CA347974520 | RFX8 | c.935T>A (p.Val312Asp) c.596T>A (p.Val199Asp) c.809T>A (p.Val270Asp) c.722T>A (p.Val241Asp) c.*312T>A (n.*312T>A) c.824T>A (p.Val275Asp) c.506T>A (p.Val169Asp) c.308T>A (p.Val103Asp) c.*9T>A (n.*9T>A) n.879T>A c.83T>A (p.Val28Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413038C>A | CA347974522 | RFX8 | c.934G>T (p.Val312Phe) c.595G>T (p.Val199Phe) c.808G>T (p.Val270Phe) c.721G>T (p.Val241Phe) c.*311G>T (n.*311G>T) c.823G>T (p.Val275Phe) c.505G>T (p.Val169Phe) c.307G>T (p.Val103Phe) c.*8G>T (n.*8G>T) n.878G>T c.82G>T (p.Val28Phe) | |
2 | g.101413038C>G | CA347974523 | RFX8 | c.934G>C (p.Val312Leu) c.595G>C (p.Val199Leu) c.808G>C (p.Val270Leu) c.721G>C (p.Val241Leu) c.*311G>C (n.*311G>C) c.823G>C (p.Val275Leu) c.505G>C (p.Val169Leu) c.307G>C (p.Val103Leu) c.*8G>C (n.*8G>C) n.878G>C c.82G>C (p.Val28Leu) | |
2 | g.101413038C>T | CA347974524 | RFX8 | c.934G>A (p.Val312Ile) c.595G>A (p.Val199Ile) c.808G>A (p.Val270Ile) c.721G>A (p.Val241Ile) c.*311G>A (n.*311G>A) c.823G>A (p.Val275Ile) c.505G>A (p.Val169Ile) c.307G>A (p.Val103Ile) c.*8G>A (n.*8G>A) n.878G>A c.82G>A (p.Val28Ile) | |
2 | g.101413039A= | CA1274778618 | RFX8 | c.933T= (p.Arg311=) c.594T= (p.Arg198=) c.807T= (p.Arg269=) c.720T= (p.Arg240=) c.*310T= (n.*310T=) c.822T= (p.Arg274=) c.504T= (p.Arg168=) c.306T= (p.Arg102=) c.*7T= (n.*7T=) n.877T= c.81T= (p.Arg27=) | |
2 | g.101413039A>C | CA427793748 | RFX8 | c.933T>G (p.Arg311=) c.594T>G (p.Arg198=) c.807T>G (p.Arg269=) c.720T>G (p.Arg240=) c.*310T>G (n.*310T>G) c.822T>G (p.Arg274=) c.504T>G (p.Arg168=) c.306T>G (p.Arg102=) c.*7T>G (n.*7T>G) n.877T>G c.81T>G (p.Arg27=) | |
2 | g.101413039A>G | CA427793756 | RFX8 | c.933T>C (p.Arg311=) c.594T>C (p.Arg198=) c.807T>C (p.Arg269=) c.720T>C (p.Arg240=) c.*310T>C (n.*310T>C) c.822T>C (p.Arg274=) c.504T>C (p.Arg168=) c.306T>C (p.Arg102=) c.*7T>C (n.*7T>C) n.877T>C c.81T>C (p.Arg27=) | |
2 | g.101413039A>T | CA427793752 | RFX8 | c.933T>A (p.Arg311=) c.594T>A (p.Arg198=) c.807T>A (p.Arg269=) c.720T>A (p.Arg240=) c.*310T>A (n.*310T>A) c.822T>A (p.Arg274=) c.504T>A (p.Arg168=) c.306T>A (p.Arg102=) c.*7T>A (n.*7T>A) n.877T>A c.81T>A (p.Arg27=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413040C>A | CA347974525 | RFX8 | c.932G>T (p.Arg311Leu) c.593G>T (p.Arg198Leu) c.806G>T (p.Arg269Leu) c.719G>T (p.Arg240Leu) c.*309G>T (n.*309G>T) c.821G>T (p.Arg274Leu) c.503G>T (p.Arg168Leu) c.305G>T (p.Arg102Leu) c.*6G>T (n.*6G>T) n.876G>T c.80G>T (p.Arg27Leu) | |
2 | g.101413040C= | CA1274778619 | RFX8 | c.932G= (p.Arg311=) c.593G= (p.Arg198=) c.806G= (p.Arg269=) c.719G= (p.Arg240=) c.*309G= (n.*309G=) c.821G= (p.Arg274=) c.503G= (p.Arg168=) c.305G= (p.Arg102=) c.*6G= (n.*6G=) n.876G= c.80G= (p.Arg27=) | |
2 | g.101413040C>G | CA347974526 | RFX8 | c.932G>C (p.Arg311Pro) c.593G>C (p.Arg198Pro) c.806G>C (p.Arg269Pro) c.719G>C (p.Arg240Pro) c.*309G>C (n.*309G>C) c.821G>C (p.Arg274Pro) c.503G>C (p.Arg168Pro) c.305G>C (p.Arg102Pro) c.*6G>C (n.*6G>C) n.876G>C c.80G>C (p.Arg27Pro) | |
2 | g.101413040C>T | CA53230252 | RFX8 | c.932G>A (p.Arg311His) c.593G>A (p.Arg198His) c.806G>A (p.Arg269His) c.719G>A (p.Arg240His) c.*309G>A (n.*309G>A) c.821G>A (p.Arg274His) c.503G>A (p.Arg168His) c.305G>A (p.Arg102His) c.*6G>A (n.*6G>A) n.876G>A c.80G>A (p.Arg27His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413041G>A | CA347974527 | RFX8 | c.931C>T (p.Arg311Cys) c.592C>T (p.Arg198Cys) c.805C>T (p.Arg269Cys) c.718C>T (p.Arg240Cys) c.*308C>T (n.*308C>T) c.820C>T (p.Arg274Cys) c.502C>T (p.Arg168Cys) c.304C>T (p.Arg102Cys) c.*5C>T (n.*5C>T) n.875C>T c.79C>T (p.Arg27Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413041G>C | CA347974528 | RFX8 | c.931C>G (p.Arg311Gly) c.592C>G (p.Arg198Gly) c.805C>G (p.Arg269Gly) c.718C>G (p.Arg240Gly) c.*308C>G (n.*308C>G) c.820C>G (p.Arg274Gly) c.502C>G (p.Arg168Gly) c.304C>G (p.Arg102Gly) c.*5C>G (n.*5C>G) n.875C>G c.79C>G (p.Arg27Gly) | |
2 | g.101413041G= | CA1274778620 | RFX8 | c.931C= (p.Arg311=) c.592C= (p.Arg198=) c.805C= (p.Arg269=) c.718C= (p.Arg240=) c.*308C= (n.*308C=) c.820C= (p.Arg274=) c.502C= (p.Arg168=) c.304C= (p.Arg102=) c.*5C= (n.*5C=) n.875C= c.79C= (p.Arg27=) | |
2 | g.101413041G>T | CA347974529 | RFX8 | c.931C>A (p.Arg311Ser) c.592C>A (p.Arg198Ser) c.805C>A (p.Arg269Ser) c.718C>A (p.Arg240Ser) c.*308C>A (n.*308C>A) c.820C>A (p.Arg274Ser) c.502C>A (p.Arg168Ser) c.304C>A (p.Arg102Ser) c.*5C>A (n.*5C>A) n.875C>A c.79C>A (p.Arg27Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413042C>A | CA347974530 | RFX8 | c.930G>T (p.Arg310Ser) c.591G>T (p.Arg197Ser) c.804G>T (p.Arg268Ser) c.717G>T (p.Arg239Ser) c.*307G>T (n.*307G>T) c.819G>T (p.Arg273Ser) c.501G>T (p.Arg167Ser) c.303G>T (p.Arg101Ser) c.*4G>T (n.*4G>T) n.874G>T c.78G>T (p.Arg26Ser) | |
2 | g.101413042C= | CA1274778621 | RFX8 | c.930G= (p.Arg310=) c.591G= (p.Arg197=) c.804G= (p.Arg268=) c.717G= (p.Arg239=) c.*307G= (n.*307G=) c.819G= (p.Arg273=) c.501G= (p.Arg167=) c.303G= (p.Arg101=) c.*4G= (n.*4G=) n.874G= c.78G= (p.Arg26=) | |
2 | g.101413042C>G | CA347974531 | RFX8 | c.930G>C (p.Arg310Ser) c.591G>C (p.Arg197Ser) c.804G>C (p.Arg268Ser) c.717G>C (p.Arg239Ser) c.*307G>C (n.*307G>C) c.819G>C (p.Arg273Ser) c.501G>C (p.Arg167Ser) c.303G>C (p.Arg101Ser) c.*4G>C (n.*4G>C) n.874G>C c.78G>C (p.Arg26Ser) | dbSNP |
2 | g.101413042C>T | CA427793782 | RFX8 | c.930G>A (p.Arg310=) c.591G>A (p.Arg197=) c.804G>A (p.Arg268=) c.717G>A (p.Arg239=) c.*307G>A (n.*307G>A) c.819G>A (p.Arg273=) c.501G>A (p.Arg167=) c.303G>A (p.Arg101=) c.*4G>A (n.*4G>A) n.874G>A c.78G>A (p.Arg26=) | gnomAD v4 |
2 | g.101413043C>A | CA347974532 | RFX8 | c.929G>T (p.Arg310Met) c.590G>T (p.Arg197Met) c.803G>T (p.Arg268Met) c.716G>T (p.Arg239Met) c.*306G>T (n.*306G>T) c.818G>T (p.Arg273Met) c.500G>T (p.Arg167Met) c.302G>T (p.Arg101Met) c.*3G>T (n.*3G>T) n.873G>T c.77G>T (p.Arg26Met) | |
2 | g.101413043C= | CA1274778622 | RFX8 | c.929G= (p.Arg310=) c.590G= (p.Arg197=) c.803G= (p.Arg268=) c.716G= (p.Arg239=) c.*306G= (n.*306G=) c.818G= (p.Arg273=) c.500G= (p.Arg167=) c.302G= (p.Arg101=) c.*3G= (n.*3G=) n.873G= c.77G= (p.Arg26=) | |
2 | g.101413043C>G | CA347974534 | RFX8 | c.929G>C (p.Arg310Thr) c.590G>C (p.Arg197Thr) c.803G>C (p.Arg268Thr) c.716G>C (p.Arg239Thr) c.*306G>C (n.*306G>C) c.818G>C (p.Arg273Thr) c.500G>C (p.Arg167Thr) c.302G>C (p.Arg101Thr) c.*3G>C (n.*3G>C) n.873G>C c.77G>C (p.Arg26Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413043C>T | CA347974533 | RFX8 | c.929G>A (p.Arg310Lys) c.590G>A (p.Arg197Lys) c.803G>A (p.Arg268Lys) c.716G>A (p.Arg239Lys) c.*306G>A (n.*306G>A) c.818G>A (p.Arg273Lys) c.500G>A (p.Arg167Lys) c.302G>A (p.Arg101Lys) c.*3G>A (n.*3G>A) n.873G>A c.77G>A (p.Arg26Lys) | |
2 | g.101413044T>A | CA347974535 | RFX8 | c.928A>T (p.Arg310Trp) c.589A>T (p.Arg197Trp) c.802A>T (p.Arg268Trp) c.715A>T (p.Arg239Trp) c.*305A>T (n.*305A>T) c.817A>T (p.Arg273Trp) c.499A>T (p.Arg167Trp) c.301A>T (p.Arg101Trp) c.*2A>T (n.*2A>T) n.872A>T c.76A>T (p.Arg26Trp) | |
2 | g.101413044T>C | CA347974536 | RFX8 | c.928A>G (p.Arg310Gly) c.589A>G (p.Arg197Gly) c.802A>G (p.Arg268Gly) c.715A>G (p.Arg239Gly) c.*305A>G (n.*305A>G) c.817A>G (p.Arg273Gly) c.499A>G (p.Arg167Gly) c.301A>G (p.Arg101Gly) c.*2A>G (n.*2A>G) n.872A>G c.76A>G (p.Arg26Gly) | |
2 | g.101413044T>G | CA427793796 | RFX8 | c.928A>C (p.Arg310=) c.589A>C (p.Arg197=) c.802A>C (p.Arg268=) c.715A>C (p.Arg239=) c.*305A>C (n.*305A>C) c.817A>C (p.Arg273=) c.499A>C (p.Arg167=) c.301A>C (p.Arg101=) c.*2A>C (n.*2A>C) n.872A>C c.76A>C (p.Arg26=) | |
2 | g.101413045C>A | CA347974537 | RFX8 | c.927G>T (p.Lys309Asn) c.588G>T (p.Lys196Asn) c.801G>T (p.Lys267Asn) c.714G>T (p.Lys238Asn) c.*304G>T (n.*304G>T) c.816G>T (p.Lys272Asn) c.498G>T (p.Lys166Asn) c.300G>T (p.Lys100Asn) c.*1G>T (n.*1G>T) n.871G>T c.75G>T (p.Lys25Asn) | |
2 | g.101413045C>G | CA347974538 | RFX8 | c.927G>C (p.Lys309Asn) c.588G>C (p.Lys196Asn) c.801G>C (p.Lys267Asn) c.714G>C (p.Lys238Asn) c.*304G>C (n.*304G>C) c.816G>C (p.Lys272Asn) c.498G>C (p.Lys166Asn) c.300G>C (p.Lys100Asn) c.*1G>C (n.*1G>C) n.871G>C c.75G>C (p.Lys25Asn) | |
2 | g.101413045C>T | CA427793801 | RFX8 | c.927G>A (p.Lys309=) c.588G>A (p.Lys196=) c.801G>A (p.Lys267=) c.714G>A (p.Lys238=) c.*304G>A (n.*304G>A) c.816G>A (p.Lys272=) c.498G>A (p.Lys166=) c.300G>A (p.Lys100=) c.*1G>A (n.*1G>A) n.871G>A c.75G>A (p.Lys25=) | |
2 | g.101413048_101413051del | CA427793805 | RFX8 | c.924_927del (p.Ser308ArgfsTer7) c.585_588del (p.Ser195ArgfsTer7) c.798_801del (p.Ser266ArgfsTer7) c.711_714del (p.Ser237ArgfsTer7) c.*301_*304del (n.*301_*304del) c.813_816del (p.Ser271ArgfsTer7) c.495_498del (p.Ser165ArgfsTer7) c.297_300del (p.Ser99ArgfsTer7) c.754_*1del (n.[c.754_*1del;Ter252ArgextTer?]) n.868_871del c.72_75del (p.Ser24ArgfsTer7) | |
2 | g.101413046T>A | CA347974539 | RFX8 | c.926A>T (p.Lys309Met) c.587A>T (p.Lys196Met) c.800A>T (p.Lys267Met) c.713A>T (p.Lys238Met) c.*303A>T (n.*303A>T) c.815A>T (p.Lys272Met) c.497A>T (p.Lys166Met) c.299A>T (p.Lys100Met) c.756A>T (p.Ter252Tyr) n.870A>T c.74A>T (p.Lys25Met) | |
2 | g.101413046T>C | CA347974540 | RFX8 | c.926A>G (p.Lys309Arg) c.587A>G (p.Lys196Arg) c.800A>G (p.Lys267Arg) c.713A>G (p.Lys238Arg) c.*303A>G (n.*303A>G) c.815A>G (p.Lys272Arg) c.497A>G (p.Lys166Arg) c.299A>G (p.Lys100Arg) c.756A>G (p.Ter252=) n.870A>G c.74A>G (p.Lys25Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413046T>G | CA347974541 | RFX8 | c.926A>C (p.Lys309Thr) c.587A>C (p.Lys196Thr) c.800A>C (p.Lys267Thr) c.713A>C (p.Lys238Thr) c.*303A>C (n.*303A>C) c.815A>C (p.Lys272Thr) c.497A>C (p.Lys166Thr) c.299A>C (p.Lys100Thr) c.756A>C (p.Ter252Tyr) n.870A>C c.74A>C (p.Lys25Thr) | |
2 | g.101413046T= | CA1274778623 | RFX8 | c.926A= (p.Lys309=) c.587A= (p.Lys196=) c.800A= (p.Lys267=) c.713A= (p.Lys238=) c.*303A= (n.*303A=) c.815A= (p.Lys272=) c.497A= (p.Lys166=) c.299A= (p.Lys100=) c.756A= (p.Ter252=) n.870A= c.74A= (p.Lys25=) | |
2 | g.101413047T>A | CA347974542 | RFX8 | c.925A>T (p.Lys309Ter) c.586A>T (p.Lys196Ter) c.799A>T (p.Lys267Ter) c.712A>T (p.Lys238Ter) c.*302A>T (n.*302A>T) c.814A>T (p.Lys272Ter) c.496A>T (p.Lys166Ter) c.298A>T (p.Lys100Ter) c.755A>T (p.Ter252Leu) n.869A>T c.73A>T (p.Lys25Ter) | |
2 | g.101413047T>C | CA347974543 | RFX8 | c.925A>G (p.Lys309Glu) c.586A>G (p.Lys196Glu) c.799A>G (p.Lys267Glu) c.712A>G (p.Lys238Glu) c.*302A>G (n.*302A>G) c.814A>G (p.Lys272Glu) c.496A>G (p.Lys166Glu) c.298A>G (p.Lys100Glu) c.755A>G (p.Ter252=) n.869A>G c.73A>G (p.Lys25Glu) | |
2 | g.101413047T>G | CA347974544 | RFX8 | c.925A>C (p.Lys309Gln) c.586A>C (p.Lys196Gln) c.799A>C (p.Lys267Gln) c.712A>C (p.Lys238Gln) c.*302A>C (n.*302A>C) c.814A>C (p.Lys272Gln) c.496A>C (p.Lys166Gln) c.298A>C (p.Lys100Gln) c.755A>C (p.Ter252Ser) n.869A>C c.73A>C (p.Lys25Gln) | |
2 | g.101413048A>C | CA347974545 | RFX8 | c.924T>G (p.Ser308Arg) c.585T>G (p.Ser195Arg) c.798T>G (p.Ser266Arg) c.711T>G (p.Ser237Arg) c.*301T>G (n.*301T>G) c.813T>G (p.Ser271Arg) c.495T>G (p.Ser165Arg) c.297T>G (p.Ser99Arg) c.754T>G (p.Ter252Glu) n.868T>G c.72T>G (p.Ser24Arg) | |
2 | g.101413048A>G | CA427793829 | RFX8 | c.924T>C (p.Ser308=) c.585T>C (p.Ser195=) c.798T>C (p.Ser266=) c.711T>C (p.Ser237=) c.*301T>C (n.*301T>C) c.813T>C (p.Ser271=) c.495T>C (p.Ser165=) c.297T>C (p.Ser99=) c.754T>C (p.Ter252Gln) n.868T>C c.72T>C (p.Ser24=) | |
2 | g.101413048A>T | CA347974546 | RFX8 | c.924T>A (p.Ser308Arg) c.585T>A (p.Ser195Arg) c.798T>A (p.Ser266Arg) c.711T>A (p.Ser237Arg) c.*301T>A (n.*301T>A) c.813T>A (p.Ser271Arg) c.495T>A (p.Ser165Arg) c.297T>A (p.Ser99Arg) c.754T>A (p.Ter252Lys) n.868T>A c.72T>A (p.Ser24Arg) | |
2 | g.101413049C>A | CA347974547 | RFX8 | c.923G>T (p.Ser308Ile) c.584G>T (p.Ser195Ile) c.797G>T (p.Ser266Ile) c.710G>T (p.Ser237Ile) c.*300G>T (n.*300G>T) c.812G>T (p.Ser271Ile) c.494G>T (p.Ser165Ile) c.296G>T (p.Ser99Ile) c.753G>T (p.Lys251Asn) n.867G>T c.71G>T (p.Ser24Ile) | gnomAD v4 |
2 | g.101413049C= | CA1274778624 | RFX8 | c.923G= (p.Ser308=) c.584G= (p.Ser195=) c.797G= (p.Ser266=) c.710G= (p.Ser237=) c.*300G= (n.*300G=) c.812G= (p.Ser271=) c.494G= (p.Ser165=) c.296G= (p.Ser99=) c.753G= (p.Lys251=) n.867G= c.71G= (p.Ser24=) | |
2 | g.101413049C>G | CA1806434 | RFX8 | c.923G>C (p.Ser308Thr) c.584G>C (p.Ser195Thr) c.797G>C (p.Ser266Thr) c.710G>C (p.Ser237Thr) c.*300G>C (n.*300G>C) c.812G>C (p.Ser271Thr) c.494G>C (p.Ser165Thr) c.296G>C (p.Ser99Thr) c.753G>C (p.Lys251Asn) n.867G>C c.71G>C (p.Ser24Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.101413049C>T | CA347974548 | RFX8 | c.923G>A (p.Ser308Asn) c.584G>A (p.Ser195Asn) c.797G>A (p.Ser266Asn) c.710G>A (p.Ser237Asn) c.*300G>A (n.*300G>A) c.812G>A (p.Ser271Asn) c.494G>A (p.Ser165Asn) c.296G>A (p.Ser99Asn) c.753G>A (p.Lys251=) n.867G>A c.71G>A (p.Ser24Asn) | |
2 | g.101413050T>A | CA347974551 | RFX8 | c.922A>T (p.Ser308Cys) c.583A>T (p.Ser195Cys) c.796A>T (p.Ser266Cys) c.709A>T (p.Ser237Cys) c.*299A>T (n.*299A>T) c.811A>T (p.Ser271Cys) c.493A>T (p.Ser165Cys) c.295A>T (p.Ser99Cys) c.752A>T (p.Lys251Met) n.866A>T c.70A>T (p.Ser24Cys) | |
2 | g.101413050T>C | CA347974550 | RFX8 | c.922A>G (p.Ser308Gly) c.583A>G (p.Ser195Gly) c.796A>G (p.Ser266Gly) c.709A>G (p.Ser237Gly) c.*299A>G (n.*299A>G) c.811A>G (p.Ser271Gly) c.493A>G (p.Ser165Gly) c.295A>G (p.Ser99Gly) c.752A>G (p.Lys251Arg) n.866A>G c.70A>G (p.Ser24Gly) | |
2 | g.101413050T>G | CA347974549 | RFX8 | c.922A>C (p.Ser308Arg) c.583A>C (p.Ser195Arg) c.796A>C (p.Ser266Arg) c.709A>C (p.Ser237Arg) c.*299A>C (n.*299A>C) c.811A>C (p.Ser271Arg) c.493A>C (p.Ser165Arg) c.295A>C (p.Ser99Arg) c.752A>C (p.Lys251Thr) n.866A>C c.70A>C (p.Ser24Arg) | |
2 | g.101413051T>A | CA347974552 | RFX8 | c.921A>T (p.Lys307Asn) c.582A>T (p.Lys194Asn) c.795A>T (p.Lys265Asn) c.708A>T (p.Lys236Asn) c.*298A>T (n.*298A>T) c.810A>T (p.Lys270Asn) c.492A>T (p.Lys164Asn) c.294A>T (p.Lys98Asn) c.751A>T (p.Lys251Ter) n.865A>T c.69A>T (p.Lys23Asn) | |
2 | g.101413051T>C | CA427793850 | RFX8 | c.921A>G (p.Lys307=) c.582A>G (p.Lys194=) c.795A>G (p.Lys265=) c.708A>G (p.Lys236=) c.*298A>G (n.*298A>G) c.810A>G (p.Lys270=) c.492A>G (p.Lys164=) c.294A>G (p.Lys98=) c.751A>G (p.Lys251Glu) n.865A>G c.69A>G (p.Lys23=) | |
2 | g.101413051T>G | CA347974553 | RFX8 | c.921A>C (p.Lys307Asn) c.582A>C (p.Lys194Asn) c.795A>C (p.Lys265Asn) c.708A>C (p.Lys236Asn) c.*298A>C (n.*298A>C) c.810A>C (p.Lys270Asn) c.492A>C (p.Lys164Asn) c.294A>C (p.Lys98Asn) c.751A>C (p.Lys251Gln) n.865A>C c.69A>C (p.Lys23Asn) | |
2 | g.101413052T>A | CA347974554 | RFX8 | c.920A>T (p.Lys307Ile) c.581A>T (p.Lys194Ile) c.794A>T (p.Lys265Ile) c.707A>T (p.Lys236Ile) c.*297A>T (n.*297A>T) c.809A>T (p.Lys270Ile) c.491A>T (p.Lys164Ile) c.293A>T (p.Lys98Ile) c.750A>T (p.Glu250Asp) n.864A>T c.68A>T (p.Lys23Ile) | |
2 | g.101413052T>C | CA347974555 | RFX8 | c.920A>G (p.Lys307Arg) c.581A>G (p.Lys194Arg) c.794A>G (p.Lys265Arg) c.707A>G (p.Lys236Arg) c.*297A>G (n.*297A>G) c.809A>G (p.Lys270Arg) c.491A>G (p.Lys164Arg) c.293A>G (p.Lys98Arg) c.750A>G (p.Glu250=) n.864A>G c.68A>G (p.Lys23Arg) | |
2 | g.101413052T>G | CA347974556 | RFX8 | c.920A>C (p.Lys307Thr) c.581A>C (p.Lys194Thr) c.794A>C (p.Lys265Thr) c.707A>C (p.Lys236Thr) c.*297A>C (n.*297A>C) c.809A>C (p.Lys270Thr) c.491A>C (p.Lys164Thr) c.293A>C (p.Lys98Thr) c.750A>C (p.Glu250Asp) n.864A>C c.68A>C (p.Lys23Thr) | |
2 | g.101413053T>A | CA347974557 | RFX8 | c.919A>T (p.Lys307Ter) c.580A>T (p.Lys194Ter) c.793A>T (p.Lys265Ter) c.706A>T (p.Lys236Ter) c.*296A>T (n.*296A>T) c.808A>T (p.Lys270Ter) c.490A>T (p.Lys164Ter) c.292A>T (p.Lys98Ter) c.749A>T (p.Glu250Val) n.863A>T c.67A>T (p.Lys23Ter) | |
2 | g.101413053T>C | CA347974558 | RFX8 | c.919A>G (p.Lys307Glu) c.580A>G (p.Lys194Glu) c.793A>G (p.Lys265Glu) c.706A>G (p.Lys236Glu) c.*296A>G (n.*296A>G) c.808A>G (p.Lys270Glu) c.490A>G (p.Lys164Glu) c.292A>G (p.Lys98Glu) c.749A>G (p.Glu250Gly) n.863A>G c.67A>G (p.Lys23Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413053T>G | CA347974559 | RFX8 | c.919A>C (p.Lys307Gln) c.580A>C (p.Lys194Gln) c.793A>C (p.Lys265Gln) c.706A>C (p.Lys236Gln) c.*296A>C (n.*296A>C) c.808A>C (p.Lys270Gln) c.490A>C (p.Lys164Gln) c.292A>C (p.Lys98Gln) c.749A>C (p.Glu250Ala) n.863A>C c.67A>C (p.Lys23Gln) | |
2 | g.101413053T= | CA1274778625 | RFX8 | c.919A= (p.Lys307=) c.580A= (p.Lys194=) c.793A= (p.Lys265=) c.706A= (p.Lys236=) c.*296A= (n.*296A=) c.808A= (p.Lys270=) c.490A= (p.Lys164=) c.292A= (p.Lys98=) c.749A= (p.Glu250=) n.863A= c.67A= (p.Lys23=) | |
2 | g.101413054C>A | CA347974560 | RFX8 | c.918G>T (p.Leu306Phe) c.579G>T (p.Leu193Phe) c.792G>T (p.Leu264Phe) c.705G>T (p.Leu235Phe) c.*295G>T (n.*295G>T) c.807G>T (p.Leu269Phe) c.489G>T (p.Leu163Phe) c.291G>T (p.Leu97Phe) c.748G>T (p.Glu250Ter) n.862G>T c.66G>T (p.Leu22Phe) | |
2 | g.101413054C>G | CA347974561 | RFX8 | c.918G>C (p.Leu306Phe) c.579G>C (p.Leu193Phe) c.792G>C (p.Leu264Phe) c.705G>C (p.Leu235Phe) c.*295G>C (n.*295G>C) c.807G>C (p.Leu269Phe) c.489G>C (p.Leu163Phe) c.291G>C (p.Leu97Phe) c.748G>C (p.Glu250Gln) n.862G>C c.66G>C (p.Leu22Phe) | |
2 | g.101413054C>T | CA427793866 | RFX8 | c.918G>A (p.Leu306=) c.579G>A (p.Leu193=) c.792G>A (p.Leu264=) c.705G>A (p.Leu235=) c.*295G>A (n.*295G>A) c.807G>A (p.Leu269=) c.489G>A (p.Leu163=) c.291G>A (p.Leu97=) c.748G>A (p.Glu250Lys) n.862G>A c.66G>A (p.Leu22=) | |
2 | g.101413055A= | CA1274778626 | RFX8 | c.917T= (p.Leu306=) c.578T= (p.Leu193=) c.791T= (p.Leu264=) c.704T= (p.Leu235=) c.*294T= (n.*294T=) c.806T= (p.Leu269=) c.488T= (p.Leu163=) c.290T= (p.Leu97=) c.747T= (p.Ile249=) n.861T= c.65T= (p.Leu22=) | |
2 | g.101413055A>C | CA347974562 | RFX8 | c.917T>G (p.Leu306Trp) c.578T>G (p.Leu193Trp) c.791T>G (p.Leu264Trp) c.704T>G (p.Leu235Trp) c.*294T>G (n.*294T>G) c.806T>G (p.Leu269Trp) c.488T>G (p.Leu163Trp) c.290T>G (p.Leu97Trp) c.747T>G (p.Ile249Met) n.861T>G c.65T>G (p.Leu22Trp) | ClinVar dbSNP gnomAD v4 |
2 | g.101413055A>G | CA53230255 | RFX8 | c.917T>C (p.Leu306Ser) c.578T>C (p.Leu193Ser) c.791T>C (p.Leu264Ser) c.704T>C (p.Leu235Ser) c.*294T>C (n.*294T>C) c.806T>C (p.Leu269Ser) c.488T>C (p.Leu163Ser) c.290T>C (p.Leu97Ser) c.747T>C (p.Ile249=) n.861T>C c.65T>C (p.Leu22Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413055A>T | CA347974563 | RFX8 | c.917T>A (p.Leu306Ter) c.578T>A (p.Leu193Ter) c.791T>A (p.Leu264Ter) c.704T>A (p.Leu235Ter) c.*294T>A (n.*294T>A) c.806T>A (p.Leu269Ter) c.488T>A (p.Leu163Ter) c.290T>A (p.Leu97Ter) c.747T>A (p.Ile249=) n.861T>A c.65T>A (p.Leu22Ter) | dbSNP gnomAD v4 |
2 | g.101413056A= | CA1274778627 | RFX8 | c.916T= (p.Leu306=) c.577T= (p.Leu193=) c.790T= (p.Leu264=) c.703T= (p.Leu235=) c.*293T= (n.*293T=) c.805T= (p.Leu269=) c.487T= (p.Leu163=) c.289T= (p.Leu97=) c.746T= (p.Ile249=) n.860T= c.64T= (p.Leu22=) | |
2 | g.101413056A>C | CA347974565 | RFX8 | c.916T>G (p.Leu306Val) c.577T>G (p.Leu193Val) c.790T>G (p.Leu264Val) c.703T>G (p.Leu235Val) c.*293T>G (n.*293T>G) c.805T>G (p.Leu269Val) c.487T>G (p.Leu163Val) c.289T>G (p.Leu97Val) c.746T>G (p.Ile249Ser) n.860T>G c.64T>G (p.Leu22Val) | |
2 | g.101413056A>G | CA53230257 | RFX8 | c.916T>C (p.Leu306=) c.577T>C (p.Leu193=) c.790T>C (p.Leu264=) c.703T>C (p.Leu235=) c.*293T>C (n.*293T>C) c.805T>C (p.Leu269=) c.487T>C (p.Leu163=) c.289T>C (p.Leu97=) c.746T>C (p.Ile249Thr) n.860T>C c.64T>C (p.Leu22=) | dbSNP gnomAD v4 |
2 | g.101413056A>T | CA347974564 | RFX8 | c.916T>A (p.Leu306Met) c.577T>A (p.Leu193Met) c.790T>A (p.Leu264Met) c.703T>A (p.Leu235Met) c.*293T>A (n.*293T>A) c.805T>A (p.Leu269Met) c.487T>A (p.Leu163Met) c.289T>A (p.Leu97Met) c.746T>A (p.Ile249Asn) n.860T>A c.64T>A (p.Leu22Met) | |
2 | g.101413057T>A | CA427793881 | RFX8 | c.915A>T (p.Val305=) c.576A>T (p.Val192=) c.789A>T (p.Val263=) c.702A>T (p.Val234=) c.*292A>T (n.*292A>T) c.804A>T (p.Val268=) c.486A>T (p.Val162=) c.288A>T (p.Val96=) c.745A>T (p.Ile249Phe) n.859A>T c.63A>T (p.Val21=) | |
2 | g.101413057T>C | CA427793884 | RFX8 | c.915A>G (p.Val305=) c.576A>G (p.Val192=) c.789A>G (p.Val263=) c.702A>G (p.Val234=) c.*292A>G (n.*292A>G) c.804A>G (p.Val268=) c.486A>G (p.Val162=) c.288A>G (p.Val96=) c.745A>G (p.Ile249Val) n.859A>G c.63A>G (p.Val21=) | |
2 | g.101413057T>G | CA427793887 | RFX8 | c.915A>C (p.Val305=) c.576A>C (p.Val192=) c.789A>C (p.Val263=) c.702A>C (p.Val234=) c.*292A>C (n.*292A>C) c.804A>C (p.Val268=) c.486A>C (p.Val162=) c.288A>C (p.Val96=) c.745A>C (p.Ile249Leu) n.859A>C c.63A>C (p.Val21=) | |
2 | g.101413058A>C | CA347974566 | RFX8 | c.914T>G (p.Val305Gly) c.575T>G (p.Val192Gly) c.788T>G (p.Val263Gly) c.701T>G (p.Val234Gly) c.*291T>G (n.*291T>G) c.803T>G (p.Val268Gly) c.485T>G (p.Val162Gly) c.287T>G (p.Val96Gly) c.744T>G (p.Gly248=) n.858T>G c.62T>G (p.Val21Gly) | |
2 | g.101413058A>G | CA347974567 | RFX8 | c.914T>C (p.Val305Ala) c.575T>C (p.Val192Ala) c.788T>C (p.Val263Ala) c.701T>C (p.Val234Ala) c.*291T>C (n.*291T>C) c.803T>C (p.Val268Ala) c.485T>C (p.Val162Ala) c.287T>C (p.Val96Ala) c.744T>C (p.Gly248=) n.858T>C c.62T>C (p.Val21Ala) | |
2 | g.101413058A>T | CA347974568 | RFX8 | c.914T>A (p.Val305Glu) c.575T>A (p.Val192Glu) c.788T>A (p.Val263Glu) c.701T>A (p.Val234Glu) c.*291T>A (n.*291T>A) c.803T>A (p.Val268Glu) c.485T>A (p.Val162Glu) c.287T>A (p.Val96Glu) c.744T>A (p.Gly248=) n.858T>A c.62T>A (p.Val21Glu) | |
2 | g.101413059C>A | CA347974569 | RFX8 | c.913G>T (p.Val305Leu) c.574G>T (p.Val192Leu) c.787G>T (p.Val263Leu) c.700G>T (p.Val234Leu) c.*290G>T (n.*290G>T) c.802G>T (p.Val268Leu) c.484G>T (p.Val162Leu) c.286G>T (p.Val96Leu) c.743G>T (p.Gly248Val) n.857G>T c.61G>T (p.Val21Leu) | gnomAD v4 |
2 | g.101413059C>G | CA347974570 | RFX8 | c.913G>C (p.Val305Leu) c.574G>C (p.Val192Leu) c.787G>C (p.Val263Leu) c.700G>C (p.Val234Leu) c.*290G>C (n.*290G>C) c.802G>C (p.Val268Leu) c.484G>C (p.Val162Leu) c.286G>C (p.Val96Leu) c.743G>C (p.Gly248Ala) n.857G>C c.61G>C (p.Val21Leu) | |
2 | g.101413059C>T | CA347974571 | RFX8 | c.913G>A (p.Val305Ile) c.574G>A (p.Val192Ile) c.787G>A (p.Val263Ile) c.700G>A (p.Val234Ile) c.*290G>A (n.*290G>A) c.802G>A (p.Val268Ile) c.484G>A (p.Val162Ile) c.286G>A (p.Val96Ile) c.743G>A (p.Gly248Asp) n.857G>A c.61G>A (p.Val21Ile) | |
2 | g.101413060C>A | CA347974572 | RFX8 | c.912G>T (p.Met304Ile) c.573G>T (p.Met191Ile) c.786G>T (p.Met262Ile) c.699G>T (p.Met233Ile) c.*289G>T (n.*289G>T) c.801G>T (p.Met267Ile) c.483G>T (p.Met161Ile) c.285G>T (p.Met95Ile) c.742G>T (p.Gly248Cys) n.856G>T c.60G>T (p.Met20Ile) | |
2 | g.101413060C= | CA1274778628 | RFX8 | c.912G= (p.Met304=) c.573G= (p.Met191=) c.786G= (p.Met262=) c.699G= (p.Met233=) c.*289G= (n.*289G=) c.801G= (p.Met267=) c.483G= (p.Met161=) c.285G= (p.Met95=) c.742G= (p.Gly248=) n.856G= c.60G= (p.Met20=) | |
2 | g.101413060C>G | CA1806435 | RFX8 | c.912G>C (p.Met304Ile) c.573G>C (p.Met191Ile) c.786G>C (p.Met262Ile) c.699G>C (p.Met233Ile) c.*289G>C (n.*289G>C) c.801G>C (p.Met267Ile) c.483G>C (p.Met161Ile) c.285G>C (p.Met95Ile) c.742G>C (p.Gly248Arg) n.856G>C c.60G>C (p.Met20Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413060C>T | CA347974573 | RFX8 | c.912G>A (p.Met304Ile) c.573G>A (p.Met191Ile) c.786G>A (p.Met262Ile) c.699G>A (p.Met233Ile) c.*289G>A (n.*289G>A) c.801G>A (p.Met267Ile) c.483G>A (p.Met161Ile) c.285G>A (p.Met95Ile) c.742G>A (p.Gly248Ser) n.856G>A c.60G>A (p.Met20Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413061A>C | CA347974574 | RFX8 | c.911T>G (p.Met304Arg) c.572T>G (p.Met191Arg) c.785T>G (p.Met262Arg) c.698T>G (p.Met233Arg) c.*288T>G (n.*288T>G) c.800T>G (p.Met267Arg) c.482T>G (p.Met161Arg) c.284T>G (p.Met95Arg) c.741T>G (p.Asn247Lys) n.855T>G c.59T>G (p.Met20Arg) | |
2 | g.101413061A>G | CA347974575 | RFX8 | c.911T>C (p.Met304Thr) c.572T>C (p.Met191Thr) c.785T>C (p.Met262Thr) c.698T>C (p.Met233Thr) c.*288T>C (n.*288T>C) c.800T>C (p.Met267Thr) c.482T>C (p.Met161Thr) c.284T>C (p.Met95Thr) c.741T>C (p.Asn247=) n.855T>C c.59T>C (p.Met20Thr) | |
2 | g.101413061A>T | CA347974576 | RFX8 | c.911T>A (p.Met304Lys) c.572T>A (p.Met191Lys) c.785T>A (p.Met262Lys) c.698T>A (p.Met233Lys) c.*288T>A (n.*288T>A) c.800T>A (p.Met267Lys) c.482T>A (p.Met161Lys) c.284T>A (p.Met95Lys) c.741T>A (p.Asn247Lys) n.855T>A c.59T>A (p.Met20Lys) | |
2 | g.101413062T>A | CA347974579 | RFX8 | c.910A>T (p.Met304Leu) c.571A>T (p.Met191Leu) c.784A>T (p.Met262Leu) c.697A>T (p.Met233Leu) c.*287A>T (n.*287A>T) c.799A>T (p.Met267Leu) c.481A>T (p.Met161Leu) c.283A>T (p.Met95Leu) c.740A>T (p.Asn247Ile) n.854A>T c.58A>T (p.Met20Leu) | |
2 | g.101413062T>C | CA347974577 | RFX8 | c.910A>G (p.Met304Val) c.571A>G (p.Met191Val) c.784A>G (p.Met262Val) c.697A>G (p.Met233Val) c.*287A>G (n.*287A>G) c.799A>G (p.Met267Val) c.481A>G (p.Met161Val) c.283A>G (p.Met95Val) c.740A>G (p.Asn247Ser) n.854A>G c.58A>G (p.Met20Val) | |
2 | g.101413062T>G | CA347974578 | RFX8 | c.910A>C (p.Met304Leu) c.571A>C (p.Met191Leu) c.784A>C (p.Met262Leu) c.697A>C (p.Met233Leu) c.*287A>C (n.*287A>C) c.799A>C (p.Met267Leu) c.481A>C (p.Met161Leu) c.283A>C (p.Met95Leu) c.740A>C (p.Asn247Thr) n.854A>C c.58A>C (p.Met20Leu) | |
2 | g.101413063T>A | CA427793973 | RFX8 | c.909A>T (p.Arg303=) c.570A>T (p.Arg190=) c.783A>T (p.Arg261=) c.696A>T (p.Arg232=) c.*286A>T (n.*286A>T) c.798A>T (p.Arg266=) c.480A>T (p.Arg160=) c.282A>T (p.Arg94=) c.739A>T (p.Asn247Tyr) n.853A>T c.57A>T (p.Arg19=) | |
2 | g.101413063T>C | CA427793968 | RFX8 | c.909A>G (p.Arg303=) c.570A>G (p.Arg190=) c.783A>G (p.Arg261=) c.696A>G (p.Arg232=) c.*286A>G (n.*286A>G) c.798A>G (p.Arg266=) c.480A>G (p.Arg160=) c.282A>G (p.Arg94=) c.739A>G (p.Asn247Asp) n.853A>G c.57A>G (p.Arg19=) | |
2 | g.101413063T>G | CA427793946 | RFX8 | c.909A>C (p.Arg303=) c.570A>C (p.Arg190=) c.783A>C (p.Arg261=) c.696A>C (p.Arg232=) c.*286A>C (n.*286A>C) c.798A>C (p.Arg266=) c.480A>C (p.Arg160=) c.282A>C (p.Arg94=) c.739A>C (p.Asn247His) n.853A>C c.57A>C (p.Arg19=) | dbSNP |
2 | g.101413063T= | CA1274778629 | RFX8 | c.909A= (p.Arg303=) c.570A= (p.Arg190=) c.783A= (p.Arg261=) c.696A= (p.Arg232=) c.*286A= (n.*286A=) c.798A= (p.Arg266=) c.480A= (p.Arg160=) c.282A= (p.Arg94=) c.739A= (p.Asn247=) n.853A= c.57A= (p.Arg19=) | |
2 | g.101413064C>A | CA347974580 | RFX8 | c.908G>T (p.Arg303Leu) c.569G>T (p.Arg190Leu) c.782G>T (p.Arg261Leu) c.695G>T (p.Arg232Leu) c.*285G>T (n.*285G>T) c.797G>T (p.Arg266Leu) c.479G>T (p.Arg160Leu) c.281G>T (p.Arg94Leu) c.738G>T (p.Ala246=) n.852G>T c.56G>T (p.Arg19Leu) | |
2 | g.101413064C= | CA1274778630 | RFX8 | c.908G= (p.Arg303=) c.569G= (p.Arg190=) c.782G= (p.Arg261=) c.695G= (p.Arg232=) c.*285G= (n.*285G=) c.797G= (p.Arg266=) c.479G= (p.Arg160=) c.281G= (p.Arg94=) c.738G= (p.Ala246=) n.852G= c.56G= (p.Arg19=) | |
2 | g.101413064C>G | CA347974581 | RFX8 | c.908G>C (p.Arg303Pro) c.569G>C (p.Arg190Pro) c.782G>C (p.Arg261Pro) c.695G>C (p.Arg232Pro) c.*285G>C (n.*285G>C) c.797G>C (p.Arg266Pro) c.479G>C (p.Arg160Pro) c.281G>C (p.Arg94Pro) c.738G>C (p.Ala246=) n.852G>C c.56G>C (p.Arg19Pro) | |
2 | g.101413064C>T | CA347974582 | RFX8 | c.908G>A (p.Arg303Gln) c.569G>A (p.Arg190Gln) c.782G>A (p.Arg261Gln) c.695G>A (p.Arg232Gln) c.*285G>A (n.*285G>A) c.797G>A (p.Arg266Gln) c.479G>A (p.Arg160Gln) c.281G>A (p.Arg94Gln) c.738G>A (p.Ala246=) n.852G>A c.56G>A (p.Arg19Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413065G>A | CA347974583 | RFX8 | c.907C>T (p.Arg303Ter) c.568C>T (p.Arg190Ter) c.781C>T (p.Arg261Ter) c.694C>T (p.Arg232Ter) c.*284C>T (n.*284C>T) c.796C>T (p.Arg266Ter) c.478C>T (p.Arg160Ter) c.280C>T (p.Arg94Ter) c.737C>T (p.Ala246Val) n.851C>T c.55C>T (p.Arg19Ter) | dbSNP gnomAD v4 |
2 | g.101413065G>C | CA347974584 | RFX8 | c.907C>G (p.Arg303Gly) c.568C>G (p.Arg190Gly) c.781C>G (p.Arg261Gly) c.694C>G (p.Arg232Gly) c.*284C>G (n.*284C>G) c.796C>G (p.Arg266Gly) c.478C>G (p.Arg160Gly) c.280C>G (p.Arg94Gly) c.737C>G (p.Ala246Gly) n.851C>G c.55C>G (p.Arg19Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413065G= | CA1274778631 | RFX8 | c.907C= (p.Arg303=) c.568C= (p.Arg190=) c.781C= (p.Arg261=) c.694C= (p.Arg232=) c.*284C= (n.*284C=) c.796C= (p.Arg266=) c.478C= (p.Arg160=) c.280C= (p.Arg94=) c.737C= (p.Ala246=) n.851C= c.55C= (p.Arg19=) | |
2 | g.101413065G>T | CA427793985 | RFX8 | c.907C>A (p.Arg303=) c.568C>A (p.Arg190=) c.781C>A (p.Arg261=) c.694C>A (p.Arg232=) c.*284C>A (n.*284C>A) c.796C>A (p.Arg266=) c.478C>A (p.Arg160=) c.280C>A (p.Arg94=) c.737C>A (p.Ala246Glu) n.851C>A c.55C>A (p.Arg19=) | gnomAD v4 |
2 | g.101413066C>A | CA347974585 | RFX8 | c.906G>T (p.Met302Ile) c.567G>T (p.Met189Ile) c.780G>T (p.Met260Ile) c.693G>T (p.Met231Ile) c.*283G>T (n.*283G>T) c.795G>T (p.Met265Ile) c.477G>T (p.Met159Ile) c.279G>T (p.Met93Ile) c.736G>T (p.Ala246Ser) n.850G>T c.54G>T (p.Met18Ile) | |
2 | g.101413066C= | CA1274778632 | RFX8 | c.906G= (p.Met302=) c.567G= (p.Met189=) c.780G= (p.Met260=) c.693G= (p.Met231=) c.*283G= (n.*283G=) c.795G= (p.Met265=) c.477G= (p.Met159=) c.279G= (p.Met93=) c.736G= (p.Ala246=) n.850G= c.54G= (p.Met18=) | |
2 | g.101413066C>G | CA347974586 | RFX8 | c.906G>C (p.Met302Ile) c.567G>C (p.Met189Ile) c.780G>C (p.Met260Ile) c.693G>C (p.Met231Ile) c.*283G>C (n.*283G>C) c.795G>C (p.Met265Ile) c.477G>C (p.Met159Ile) c.279G>C (p.Met93Ile) c.736G>C (p.Ala246Pro) n.850G>C c.54G>C (p.Met18Ile) | |
2 | g.101413066C>T | CA347974587 | RFX8 | c.906G>A (p.Met302Ile) c.567G>A (p.Met189Ile) c.780G>A (p.Met260Ile) c.693G>A (p.Met231Ile) c.*283G>A (n.*283G>A) c.795G>A (p.Met265Ile) c.477G>A (p.Met159Ile) c.279G>A (p.Met93Ile) c.736G>A (p.Ala246Thr) n.850G>A c.54G>A (p.Met18Ile) | dbSNP |
2 | g.101413067A= | CA1274778633 | RFX8 | c.905T= (p.Met302=) c.566T= (p.Met189=) c.779T= (p.Met260=) c.692T= (p.Met231=) c.*282T= (n.*282T=) c.794T= (p.Met265=) c.476T= (p.Met159=) c.278T= (p.Met93=) c.735T= (p.Tyr245=) n.849T= c.53T= (p.Met18=) | |
2 | g.101413067A>C | CA53230262 | RFX8 | c.905T>G (p.Met302Arg) c.566T>G (p.Met189Arg) c.779T>G (p.Met260Arg) c.692T>G (p.Met231Arg) c.*282T>G (n.*282T>G) c.794T>G (p.Met265Arg) c.476T>G (p.Met159Arg) c.278T>G (p.Met93Arg) c.735T>G (p.Tyr245Ter) n.849T>G c.53T>G (p.Met18Arg) | dbSNP gnomAD v4 |
2 | g.101413067A>G | CA347974588 | RFX8 | c.905T>C (p.Met302Thr) c.566T>C (p.Met189Thr) c.779T>C (p.Met260Thr) c.692T>C (p.Met231Thr) c.*282T>C (n.*282T>C) c.794T>C (p.Met265Thr) c.476T>C (p.Met159Thr) c.278T>C (p.Met93Thr) c.735T>C (p.Tyr245=) n.849T>C c.53T>C (p.Met18Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413067A>T | CA347974589 | RFX8 | c.905T>A (p.Met302Lys) c.566T>A (p.Met189Lys) c.779T>A (p.Met260Lys) c.692T>A (p.Met231Lys) c.*282T>A (n.*282T>A) c.794T>A (p.Met265Lys) c.476T>A (p.Met159Lys) c.278T>A (p.Met93Lys) c.735T>A (p.Tyr245Ter) n.849T>A c.53T>A (p.Met18Lys) | gnomAD v4 COSMIC COSMIC |
2 | g.101413068T>A | CA347974591 | RFX8 | c.904A>T (p.Met302Leu) c.565A>T (p.Met189Leu) c.778A>T (p.Met260Leu) c.691A>T (p.Met231Leu) c.*281A>T (n.*281A>T) c.793A>T (p.Met265Leu) c.475A>T (p.Met159Leu) c.277A>T (p.Met93Leu) c.734A>T (p.Tyr245Phe) n.848A>T c.52A>T (p.Met18Leu) | |
2 | g.101413068T>C | CA53230264 | RFX8 | c.904A>G (p.Met302Val) c.565A>G (p.Met189Val) c.778A>G (p.Met260Val) c.691A>G (p.Met231Val) c.*281A>G (n.*281A>G) c.793A>G (p.Met265Val) c.475A>G (p.Met159Val) c.277A>G (p.Met93Val) c.734A>G (p.Tyr245Cys) n.848A>G c.52A>G (p.Met18Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413068T>G | CA347974590 | RFX8 | c.904A>C (p.Met302Leu) c.565A>C (p.Met189Leu) c.778A>C (p.Met260Leu) c.691A>C (p.Met231Leu) c.*281A>C (n.*281A>C) c.793A>C (p.Met265Leu) c.475A>C (p.Met159Leu) c.277A>C (p.Met93Leu) c.734A>C (p.Tyr245Ser) n.848A>C c.52A>C (p.Met18Leu) | |
2 | g.101413068T= | CA1274778634 | RFX8 | c.904A= (p.Met302=) c.565A= (p.Met189=) c.778A= (p.Met260=) c.691A= (p.Met231=) c.*281A= (n.*281A=) c.793A= (p.Met265=) c.475A= (p.Met159=) c.277A= (p.Met93=) c.734A= (p.Tyr245=) n.848A= c.52A= (p.Met18=) | |
2 | g.101413069A>C | CA427794002 | RFX8 | c.903T>G (p.Thr301=) c.564T>G (p.Thr188=) c.777T>G (p.Thr259=) c.690T>G (p.Thr230=) c.*280T>G (n.*280T>G) c.792T>G (p.Thr264=) c.474T>G (p.Thr158=) c.276T>G (p.Thr92=) c.733T>G (p.Tyr245Asp) n.847T>G c.51T>G (p.Thr17=) | |
2 | g.101413069A>G | CA427794003 | RFX8 | c.903T>C (p.Thr301=) c.564T>C (p.Thr188=) c.777T>C (p.Thr259=) c.690T>C (p.Thr230=) c.*280T>C (n.*280T>C) c.792T>C (p.Thr264=) c.474T>C (p.Thr158=) c.276T>C (p.Thr92=) c.733T>C (p.Tyr245His) n.847T>C c.51T>C (p.Thr17=) | gnomAD v4 |
2 | g.101413069A>T | CA427794005 | RFX8 | c.903T>A (p.Thr301=) c.564T>A (p.Thr188=) c.777T>A (p.Thr259=) c.690T>A (p.Thr230=) c.*280T>A (n.*280T>A) c.792T>A (p.Thr264=) c.474T>A (p.Thr158=) c.276T>A (p.Thr92=) c.733T>A (p.Tyr245Asn) n.847T>A c.51T>A (p.Thr17=) | |
2 | g.101413070G>A | CA347974592 | RFX8 | c.902C>T (p.Thr301Ile) c.563C>T (p.Thr188Ile) c.776C>T (p.Thr259Ile) c.689C>T (p.Thr230Ile) c.*279C>T (n.*279C>T) c.791C>T (p.Thr264Ile) c.473C>T (p.Thr158Ile) c.275C>T (p.Thr92Ile) c.732C>T (p.Asp244=) n.846C>T c.50C>T (p.Thr17Ile) | |
2 | g.101413070G>C | CA347974594 | RFX8 | c.902C>G (p.Thr301Ser) c.563C>G (p.Thr188Ser) c.776C>G (p.Thr259Ser) c.689C>G (p.Thr230Ser) c.*279C>G (n.*279C>G) c.791C>G (p.Thr264Ser) c.473C>G (p.Thr158Ser) c.275C>G (p.Thr92Ser) c.732C>G (p.Asp244Glu) n.846C>G c.50C>G (p.Thr17Ser) | |
2 | g.101413070G= | CA1274778635 | RFX8 | c.902C= (p.Thr301=) c.563C= (p.Thr188=) c.776C= (p.Thr259=) c.689C= (p.Thr230=) c.*279C= (n.*279C=) c.791C= (p.Thr264=) c.473C= (p.Thr158=) c.275C= (p.Thr92=) c.732C= (p.Asp244=) n.846C= c.50C= (p.Thr17=) | |
2 | g.101413070G>T | CA347974593 | RFX8 | c.902C>A (p.Thr301Asn) c.563C>A (p.Thr188Asn) c.776C>A (p.Thr259Asn) c.689C>A (p.Thr230Asn) c.*279C>A (n.*279C>A) c.791C>A (p.Thr264Asn) c.473C>A (p.Thr158Asn) c.275C>A (p.Thr92Asn) c.732C>A (p.Asp244Glu) n.846C>A c.50C>A (p.Thr17Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413071T>A | CA347974595 | RFX8 | c.901A>T (p.Thr301Ser) c.562A>T (p.Thr188Ser) c.775A>T (p.Thr259Ser) c.688A>T (p.Thr230Ser) c.*278A>T (n.*278A>T) c.790A>T (p.Thr264Ser) c.472A>T (p.Thr158Ser) c.274A>T (p.Thr92Ser) c.731A>T (p.Asp244Val) n.845A>T c.49A>T (p.Thr17Ser) | |
2 | g.101413071T>C | CA1806436 | RFX8 | c.901A>G (p.Thr301Ala) c.562A>G (p.Thr188Ala) c.775A>G (p.Thr259Ala) c.688A>G (p.Thr230Ala) c.*278A>G (n.*278A>G) c.790A>G (p.Thr264Ala) c.472A>G (p.Thr158Ala) c.274A>G (p.Thr92Ala) c.731A>G (p.Asp244Gly) n.845A>G c.49A>G (p.Thr17Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.101413071T>G | CA53230267 | RFX8 | c.901A>C (p.Thr301Pro) c.562A>C (p.Thr188Pro) c.775A>C (p.Thr259Pro) c.688A>C (p.Thr230Pro) c.*278A>C (n.*278A>C) c.790A>C (p.Thr264Pro) c.472A>C (p.Thr158Pro) c.274A>C (p.Thr92Pro) c.731A>C (p.Asp244Ala) n.845A>C c.49A>C (p.Thr17Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413071T= | CA1274778636 | RFX8 | c.901A= (p.Thr301=) c.562A= (p.Thr188=) c.775A= (p.Thr259=) c.688A= (p.Thr230=) c.*278A= (n.*278A=) c.790A= (p.Thr264=) c.472A= (p.Thr158=) c.274A= (p.Thr92=) c.731A= (p.Asp244=) n.845A= c.49A= (p.Thr17=) | |
2 | g.101413072C>A | CA347974596 | RFX8 | c.901-1G>T (n.901-1G>T) c.562-1G>T (n.562-1G>T) c.775-1G>T (n.775-1G>T) c.688-1G>T (n.688-1G>T) c.*278-1G>T (n.*278-1G>T) c.790-1G>T (n.790-1G>T) c.472-1G>T (n.472-1G>T) c.274-1G>T (n.274-1G>T) c.731-1G>T (n.731-1G>T) n.845-1G>T c.49-1G>T (n.49-1G>T) | |
2 | g.101413072C= | CA1274778637 | RFX8 | c.901-1G= (n.901-1G=) c.562-1G= (n.562-1G=) c.775-1G= (n.775-1G=) c.688-1G= (n.688-1G=) c.*278-1G= (n.*278-1G=) c.790-1G= (n.790-1G=) c.472-1G= (n.472-1G=) c.274-1G= (n.274-1G=) c.731-1G= (n.731-1G=) n.845-1G= c.49-1G= (n.49-1G=) | |
2 | g.101413072C>G | CA347974597 | RFX8 | c.901-1G>C (n.901-1G>C) c.562-1G>C (n.562-1G>C) c.775-1G>C (n.775-1G>C) c.688-1G>C (n.688-1G>C) c.*278-1G>C (n.*278-1G>C) c.790-1G>C (n.790-1G>C) c.472-1G>C (n.472-1G>C) c.274-1G>C (n.274-1G>C) c.731-1G>C (n.731-1G>C) n.845-1G>C c.49-1G>C (n.49-1G>C) | |
2 | g.101413072C>T | CA53230269 | RFX8 | c.901-1G>A (n.901-1G>A) c.562-1G>A (n.562-1G>A) c.775-1G>A (n.775-1G>A) c.688-1G>A (n.688-1G>A) c.*278-1G>A (n.*278-1G>A) c.790-1G>A (n.790-1G>A) c.472-1G>A (n.472-1G>A) c.274-1G>A (n.274-1G>A) c.731-1G>A (n.731-1G>A) n.845-1G>A c.49-1G>A (n.49-1G>A) | dbSNP |
2 | g.101413073T>A | CA347974598 | RFX8 | c.901-2A>T (n.901-2A>T) c.562-2A>T (n.562-2A>T) c.775-2A>T (n.775-2A>T) c.688-2A>T (n.688-2A>T) c.*278-2A>T (n.*278-2A>T) c.790-2A>T (n.790-2A>T) c.472-2A>T (n.472-2A>T) c.274-2A>T (n.274-2A>T) c.731-2A>T (n.731-2A>T) n.845-2A>T c.49-2A>T (n.49-2A>T) | |
2 | g.101413073T>C | CA347974599 | RFX8 | c.901-2A>G (n.901-2A>G) c.562-2A>G (n.562-2A>G) c.775-2A>G (n.775-2A>G) c.688-2A>G (n.688-2A>G) c.*278-2A>G (n.*278-2A>G) c.790-2A>G (n.790-2A>G) c.472-2A>G (n.472-2A>G) c.274-2A>G (n.274-2A>G) c.731-2A>G (n.731-2A>G) n.845-2A>G c.49-2A>G (n.49-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413073T>G | CA347974600 | RFX8 | c.901-2A>C (n.901-2A>C) c.562-2A>C (n.562-2A>C) c.775-2A>C (n.775-2A>C) c.688-2A>C (n.688-2A>C) c.*278-2A>C (n.*278-2A>C) c.790-2A>C (n.790-2A>C) c.472-2A>C (n.472-2A>C) c.274-2A>C (n.274-2A>C) c.731-2A>C (n.731-2A>C) n.845-2A>C c.49-2A>C (n.49-2A>C) | |
2 | g.101413073T= | CA1274778638 | RFX8 | c.901-2A= (n.901-2A=) c.562-2A= (n.562-2A=) c.775-2A= (n.775-2A=) c.688-2A= (n.688-2A=) c.*278-2A= (n.*278-2A=) c.790-2A= (n.790-2A=) c.472-2A= (n.472-2A=) c.274-2A= (n.274-2A=) c.731-2A= (n.731-2A=) n.845-2A= c.49-2A= (n.49-2A=) | |
2 | g.101413076_101413101del | CA2571570376 | RFX8 | c.901-27_901-2del (n.901-27_901-2del) c.562-27_562-2del (n.562-27_562-2del) c.775-27_775-2del (n.775-27_775-2del) c.688-27_688-2del (n.688-27_688-2del) c.*278-27_*278-2del (n.*278-27_*278-2del) c.790-27_790-2del (n.790-27_790-2del) c.472-27_472-2del (n.472-27_472-2del) c.274-27_274-2del (n.274-27_274-2del) c.731-27_731-2del (n.731-27_731-2del) n.845-27_845-2del c.49-27_49-2del (n.49-27_49-2del) | |
2 | g.101413074A>G | CA2660437697 | RFX8 | c.901-3T>C (n.901-3T>C) c.562-3T>C (n.562-3T>C) c.775-3T>C (n.775-3T>C) c.688-3T>C (n.688-3T>C) c.*278-3T>C (n.*278-3T>C) c.790-3T>C (n.790-3T>C) c.472-3T>C (n.472-3T>C) c.274-3T>C (n.274-3T>C) c.731-3T>C (n.731-3T>C) n.845-3T>C c.49-3T>C (n.49-3T>C) | gnomAD v4 |
2 | g.101413075A= | CA1274778639 | RFX8 | c.901-4T= (n.901-4T=) c.562-4T= (n.562-4T=) c.775-4T= (n.775-4T=) c.688-4T= (n.688-4T=) c.*278-4T= (n.*278-4T=) c.790-4T= (n.790-4T=) c.472-4T= (n.472-4T=) c.274-4T= (n.274-4T=) c.731-4T= (n.731-4T=) n.845-4T= c.49-4T= (n.49-4T=) | |
2 | g.101413075A>C | CA53230271 | RFX8 | c.901-4T>G (n.901-4T>G) c.562-4T>G (n.562-4T>G) c.775-4T>G (n.775-4T>G) c.688-4T>G (n.688-4T>G) c.*278-4T>G (n.*278-4T>G) c.790-4T>G (n.790-4T>G) c.472-4T>G (n.472-4T>G) c.274-4T>G (n.274-4T>G) c.731-4T>G (n.731-4T>G) n.845-4T>G c.49-4T>G (n.49-4T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413075A>T | CA2751448464 | RFX8 | c.901-4T>A (n.901-4T>A) c.562-4T>A (n.562-4T>A) c.775-4T>A (n.775-4T>A) c.688-4T>A (n.688-4T>A) c.*278-4T>A (n.*278-4T>A) c.790-4T>A (n.790-4T>A) c.472-4T>A (n.472-4T>A) c.274-4T>A (n.274-4T>A) c.731-4T>A (n.731-4T>A) n.845-4T>A c.49-4T>A (n.49-4T>A) | |
2 | g.101413076A>G | CA2660437698 | RFX8 | c.901-5T>C (n.901-5T>C) c.562-5T>C (n.562-5T>C) c.775-5T>C (n.775-5T>C) c.688-5T>C (n.688-5T>C) c.*278-5T>C (n.*278-5T>C) c.790-5T>C (n.790-5T>C) c.472-5T>C (n.472-5T>C) c.274-5T>C (n.274-5T>C) c.731-5T>C (n.731-5T>C) n.845-5T>C c.49-5T>C (n.49-5T>C) | gnomAD v4 |
2 | g.101413077G>A | CA53230274 | RFX8 | c.901-6C>T (n.901-6C>T) c.562-6C>T (n.562-6C>T) c.775-6C>T (n.775-6C>T) c.688-6C>T (n.688-6C>T) c.*278-6C>T (n.*278-6C>T) c.790-6C>T (n.790-6C>T) c.472-6C>T (n.472-6C>T) c.274-6C>T (n.274-6C>T) c.731-6C>T (n.731-6C>T) n.845-6C>T c.49-6C>T (n.49-6C>T) | dbSNP |
2 | g.101413077G= | CA1274778640 | RFX8 | c.901-6C= (n.901-6C=) c.562-6C= (n.562-6C=) c.775-6C= (n.775-6C=) c.688-6C= (n.688-6C=) c.*278-6C= (n.*278-6C=) c.790-6C= (n.790-6C=) c.472-6C= (n.472-6C=) c.274-6C= (n.274-6C=) c.731-6C= (n.731-6C=) n.845-6C= c.49-6C= (n.49-6C=) | |
2 | g.101413078A= | CA1274778641 | RFX8 | c.901-7T= (n.901-7T=) c.562-7T= (n.562-7T=) c.775-7T= (n.775-7T=) c.688-7T= (n.688-7T=) c.*278-7T= (n.*278-7T=) c.790-7T= (n.790-7T=) c.472-7T= (n.472-7T=) c.274-7T= (n.274-7T=) c.731-7T= (n.731-7T=) n.845-7T= c.49-7T= (n.49-7T=) | |
2 | g.101413078A>G | CA2577054597 | RFX8 | c.901-7T>C (n.901-7T>C) c.562-7T>C (n.562-7T>C) c.775-7T>C (n.775-7T>C) c.688-7T>C (n.688-7T>C) c.*278-7T>C (n.*278-7T>C) c.790-7T>C (n.790-7T>C) c.472-7T>C (n.472-7T>C) c.274-7T>C (n.274-7T>C) c.731-7T>C (n.731-7T>C) n.845-7T>C c.49-7T>C (n.49-7T>C) | |
2 | g.101413078A>T | CA53230276 | RFX8 | c.901-7T>A (n.901-7T>A) c.562-7T>A (n.562-7T>A) c.775-7T>A (n.775-7T>A) c.688-7T>A (n.688-7T>A) c.*278-7T>A (n.*278-7T>A) c.790-7T>A (n.790-7T>A) c.472-7T>A (n.472-7T>A) c.274-7T>A (n.274-7T>A) c.731-7T>A (n.731-7T>A) n.845-7T>A c.49-7T>A (n.49-7T>A) | dbSNP |
2 | g.101413079T>C | CA535107089 | RFX8 | c.901-8A>G (n.901-8A>G) c.562-8A>G (n.562-8A>G) c.775-8A>G (n.775-8A>G) c.688-8A>G (n.688-8A>G) c.*278-8A>G (n.*278-8A>G) c.790-8A>G (n.790-8A>G) c.472-8A>G (n.472-8A>G) c.274-8A>G (n.274-8A>G) c.731-8A>G (n.731-8A>G) n.845-8A>G c.49-8A>G (n.49-8A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413079T= | CA1274778642 | RFX8 | c.901-8A= (n.901-8A=) c.562-8A= (n.562-8A=) c.775-8A= (n.775-8A=) c.688-8A= (n.688-8A=) c.*278-8A= (n.*278-8A=) c.790-8A= (n.790-8A=) c.472-8A= (n.472-8A=) c.274-8A= (n.274-8A=) c.731-8A= (n.731-8A=) n.845-8A= c.49-8A= (n.49-8A=) | |
2 | g.101413080A= | CA1274778643 | RFX8 | c.901-9T= (n.901-9T=) c.562-9T= (n.562-9T=) c.775-9T= (n.775-9T=) c.688-9T= (n.688-9T=) c.*278-9T= (n.*278-9T=) c.790-9T= (n.790-9T=) c.472-9T= (n.472-9T=) c.274-9T= (n.274-9T=) c.731-9T= (n.731-9T=) n.845-9T= c.49-9T= (n.49-9T=) | |
2 | g.101413080A>G | CA535107090 | RFX8 | c.901-9T>C (n.901-9T>C) c.562-9T>C (n.562-9T>C) c.775-9T>C (n.775-9T>C) c.688-9T>C (n.688-9T>C) c.*278-9T>C (n.*278-9T>C) c.790-9T>C (n.790-9T>C) c.472-9T>C (n.472-9T>C) c.274-9T>C (n.274-9T>C) c.731-9T>C (n.731-9T>C) n.845-9T>C c.49-9T>C (n.49-9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413081del | CA2751448465 | RFX8 | c.901-9del (n.901-9del) c.562-9del (n.562-9del) c.775-9del (n.775-9del) c.688-9del (n.688-9del) c.*278-9del (n.*278-9del) c.790-9del (n.790-9del) c.472-9del (n.472-9del) c.274-9del (n.274-9del) c.731-9del (n.731-9del) n.845-9del c.49-9del (n.49-9del) | |
2 | g.101413081A= | CA1274778644 | RFX8 | c.901-10T= (n.901-10T=) c.562-10T= (n.562-10T=) c.775-10T= (n.775-10T=) c.688-10T= (n.688-10T=) c.*278-10T= (n.*278-10T=) c.790-10T= (n.790-10T=) c.472-10T= (n.472-10T=) c.274-10T= (n.274-10T=) c.731-10T= (n.731-10T=) n.845-10T= c.49-10T= (n.49-10T=) | |
2 | g.101413081A>C | CA2581802055 | RFX8 | c.901-10T>G (n.901-10T>G) c.562-10T>G (n.562-10T>G) c.775-10T>G (n.775-10T>G) c.688-10T>G (n.688-10T>G) c.*278-10T>G (n.*278-10T>G) c.790-10T>G (n.790-10T>G) c.472-10T>G (n.472-10T>G) c.274-10T>G (n.274-10T>G) c.731-10T>G (n.731-10T>G) n.845-10T>G c.49-10T>G (n.49-10T>G) | |
2 | g.101413081A>G | CA1806437 | RFX8 | c.901-10T>C (n.901-10T>C) c.562-10T>C (n.562-10T>C) c.775-10T>C (n.775-10T>C) c.688-10T>C (n.688-10T>C) c.*278-10T>C (n.*278-10T>C) c.790-10T>C (n.790-10T>C) c.472-10T>C (n.472-10T>C) c.274-10T>C (n.274-10T>C) c.731-10T>C (n.731-10T>C) n.845-10T>C c.49-10T>C (n.49-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413081A>T | CA2581802056 | RFX8 | c.901-10T>A (n.901-10T>A) c.562-10T>A (n.562-10T>A) c.775-10T>A (n.775-10T>A) c.688-10T>A (n.688-10T>A) c.*278-10T>A (n.*278-10T>A) c.790-10T>A (n.790-10T>A) c.472-10T>A (n.472-10T>A) c.274-10T>A (n.274-10T>A) c.731-10T>A (n.731-10T>A) n.845-10T>A c.49-10T>A (n.49-10T>A) | |
2 | g.101413082C>A | CA1274778646 | RFX8 | c.901-11G>T (n.901-11G>T) c.562-11G>T (n.562-11G>T) c.775-11G>T (n.775-11G>T) c.688-11G>T (n.688-11G>T) c.*278-11G>T (n.*278-11G>T) c.790-11G>T (n.790-11G>T) c.472-11G>T (n.472-11G>T) c.274-11G>T (n.274-11G>T) c.731-11G>T (n.731-11G>T) n.845-11G>T c.49-11G>T (n.49-11G>T) | dbSNP |
2 | g.101413082C= | CA1274778645 | RFX8 | c.901-11G= (n.901-11G=) c.562-11G= (n.562-11G=) c.775-11G= (n.775-11G=) c.688-11G= (n.688-11G=) c.*278-11G= (n.*278-11G=) c.790-11G= (n.790-11G=) c.472-11G= (n.472-11G=) c.274-11G= (n.274-11G=) c.731-11G= (n.731-11G=) n.845-11G= c.49-11G= (n.49-11G=) | |
2 | g.101413082C>T | CA2699792612 | RFX8 | c.901-11G>A (n.901-11G>A) c.562-11G>A (n.562-11G>A) c.775-11G>A (n.775-11G>A) c.688-11G>A (n.688-11G>A) c.*278-11G>A (n.*278-11G>A) c.790-11G>A (n.790-11G>A) c.472-11G>A (n.472-11G>A) c.274-11G>A (n.274-11G>A) c.731-11G>A (n.731-11G>A) n.845-11G>A c.49-11G>A (n.49-11G>A) | dbSNP |
2 | g.101413083A= | CA1274778647 | RFX8 | c.901-12T= (n.901-12T=) c.562-12T= (n.562-12T=) c.775-12T= (n.775-12T=) c.688-12T= (n.688-12T=) c.*278-12T= (n.*278-12T=) c.790-12T= (n.790-12T=) c.472-12T= (n.472-12T=) c.274-12T= (n.274-12T=) c.731-12T= (n.731-12T=) n.845-12T= c.49-12T= (n.49-12T=) | |
2 | g.101413083A>C | CA535107091 | RFX8 | c.901-12T>G (n.901-12T>G) c.562-12T>G (n.562-12T>G) c.775-12T>G (n.775-12T>G) c.688-12T>G (n.688-12T>G) c.*278-12T>G (n.*278-12T>G) c.790-12T>G (n.790-12T>G) c.472-12T>G (n.472-12T>G) c.274-12T>G (n.274-12T>G) c.731-12T>G (n.731-12T>G) n.845-12T>G c.49-12T>G (n.49-12T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413083A>G | CA2660437699 | RFX8 | c.901-12T>C (n.901-12T>C) c.562-12T>C (n.562-12T>C) c.775-12T>C (n.775-12T>C) c.688-12T>C (n.688-12T>C) c.*278-12T>C (n.*278-12T>C) c.790-12T>C (n.790-12T>C) c.472-12T>C (n.472-12T>C) c.274-12T>C (n.274-12T>C) c.731-12T>C (n.731-12T>C) n.845-12T>C c.49-12T>C (n.49-12T>C) | gnomAD v4 |
2 | g.101413084G>A | CA535107092 | RFX8 | c.901-13C>T (n.901-13C>T) c.562-13C>T (n.562-13C>T) c.775-13C>T (n.775-13C>T) c.688-13C>T (n.688-13C>T) c.*278-13C>T (n.*278-13C>T) c.790-13C>T (n.790-13C>T) c.472-13C>T (n.472-13C>T) c.274-13C>T (n.274-13C>T) c.731-13C>T (n.731-13C>T) n.845-13C>T c.49-13C>T (n.49-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413084G>C | CA2660437700 | RFX8 | c.901-13C>G (n.901-13C>G) c.562-13C>G (n.562-13C>G) c.775-13C>G (n.775-13C>G) c.688-13C>G (n.688-13C>G) c.*278-13C>G (n.*278-13C>G) c.790-13C>G (n.790-13C>G) c.472-13C>G (n.472-13C>G) c.274-13C>G (n.274-13C>G) c.731-13C>G (n.731-13C>G) n.845-13C>G c.49-13C>G (n.49-13C>G) | gnomAD v4 |
2 | g.101413084G= | CA1274778648 | RFX8 | c.901-13C= (n.901-13C=) c.562-13C= (n.562-13C=) c.775-13C= (n.775-13C=) c.688-13C= (n.688-13C=) c.*278-13C= (n.*278-13C=) c.790-13C= (n.790-13C=) c.472-13C= (n.472-13C=) c.274-13C= (n.274-13C=) c.731-13C= (n.731-13C=) n.845-13C= c.49-13C= (n.49-13C=) |